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view gfapts/gfap_r1.0_known_var_finder.xml @ 0:f753b30013e6 draft
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| author | rdaveau |
|---|---|
| date | Fri, 29 Jun 2012 10:20:55 -0400 |
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<tool id="gfap_r1.0_known_var_finder" name="Known variants finder"> <description>Search the GFAP database for known variants</description> <command interpreter="perl">gfap_r1.0_known_var_finder.pl -varfile=$varfile -buildver=$buildver -outdir=$__new_file_path__/gfap -dir_1000g=db/1000g -dir_dbsnp=db/dbsnp -dir_cosmic=db/cosmic -release_1000g=$release_1000g -release_dbsnp=$release_dbsnp -release_cosmic=$release_cosmic -outfile=$outfile</command> <inputs> <param name="varfile" format="txt" type="data" label="Input VAR file" /> <param name="buildver" type="select" label="Human reference genome assembly"> <option value="hg19">GRCh37 ie. hg19</option> </param> <param name="release_1000g" type="select" label="1000 Genomes data release"> <option value="phase1_20101123">phase 1 r20101123 </option> </param> <param name="release_dbsnp" type="select" label="dbSNP data release"> <option value="v135">v135</option> </param> <param name="release_cosmic" type="select" label="COSMIC data release"> <option value="v56">v56</option> </param> </inputs> <outputs> <data format="txt" name="outfile" label="${varfile.name}.dbi" /> </outputs> <help> .. class:: infomark **What it does** Annotate a VAR-file with **1000G**, **dbSNP** and **COSMIC** data. - This VAR-file has to be generated by the **SAMVCF_data_parser** gfap utility. - Included in the gfap archive, variant databases mentioned ahead consist in **built-in pre-processed flat files**. .. class:: infomark **Third-party resources** - 1000G: http://www.1000genomes.org - dbSNP: http://www.ncbi.nlm.nih.gov/projects/SNP - COSMIC: http://www.sanger.ac.uk/genetics/CGP/cosmic ---- **Input .var file**:: #chr start end ref alt ann QC NRF NRR NAF NAR VCF.FILTER P.str P.ref P.alt DP AD AF VAR.FILTER chr1 14907 14907 A G het 9 4 0 0 3 NONE 3.33e-01 4.17e-02 8.33e-02 7 3 0.4290 SKIP chr1 14930 14930 A G het 37 4 2 0 5 NONE 1.83e-01 2.29e-01 2.08e-02 11 5 0.4550 SKIP chr1 68896 68896 G A hom 18 0 0 3 0 NONE 8.33e-02 3.33e-01 8.33e-02 3 3 1.0000 SKIP chr1 69270 69270 A G hom 179 0 0 31 0 NONE 3.10e-10 3.33e-01 3.10e-10 31 31 1.0000 SKIP chr1 69511 69511 A G hom 222 0 0 13 12 NONE 3.33e-01 3.33e-01 3.33e-01 25 25 1.0000 PASS chr1 69897 69897 T C het 14 1 0 0 3 NONE 2.08e-01 3.33e-01 8.33e-02 4 3 0.7500 SKIP chr1 129285 129285 G A het 56 0 4 0 4 NONE 2.60e-03 4.17e-02 4.17e-02 8 4 0.5000 SKIP chr1 567697 567697 G A hom 30 0 0 0 2 NONE 1.67e-01 3.33e-01 1.67e-01 2 2 1.0000 SKIP chr1 569803 569803 G A hom 50 0 0 4 0 NONE 4.17e-02 3.33e-01 4.17e-02 4 4 1.0000 SKIP chr1 808631 808631 G A hom 142 0 0 7 1 NONE 2.34e-02 3.33e-01 2.34e-02 8 8 1.0000 SKIP chr1 808922 808922 G A hom 222 0 0 15 26 NONE 3.91e-02 3.33e-01 3.91e-02 41 41 1.0000 PASS chr1 808928 808928 C T hom 222 0 0 14 31 NONE 5.36e-03 3.33e-01 5.36e-03 45 45 1.0000 PASS chr1 816725 816725 A G hom 22 0 0 2 0 NONE 1.67e-01 3.33e-01 1.67e-01 2 2 1.0000 SKIP chr1 821030 821030 G T hom 36 0 0 2 0 NONE 1.67e-01 3.33e-01 1.67e-01 2 2 1.0000 SKIP chr1 821143 821143 G T hom 8 0 0 0 2 NONE 1.67e-01 3.33e-01 1.67e-01 2 2 1.0000 SKIP ---- **Output .dbi file**:: #From [chr] to [VAR.FILTER] = VAR file header; DPT.FILTER = check for heterogeneous depth in substituted blocks #AF_ALL = global AF in phase1_20101123 1000g data #AF_AFR = AF in AFR phase1_20101123 1000g data #AF_AMR = AF in AMR phase1_20101123 1000g data #AF_ASN = AF in ASN phase1_20101123 1000g data #AF_EUR = AF in EUR phase1_20101123 1000g data #AF_COS = AF in v56 cosmic data #cid = cosmic mutation identifier from v56 release #rs = dbsnp rs identifier(s) from v135 release #dbsnp = dbsnp build version(s) from v135 release #chr start end ref alt NRF NRR NAF NAR DP AD AF QC P.str P.ref P.alt VCF.FILTER DPT.FILTER VAR.FILTER AF_ALL AF_AFR AF_AMR AF_ASN AF_EUR AF_COS cid rs dbsnp chr1 14907 14907 A G 4 0 0 3 7 3 0.4290 9 3.33e-01 4.17e-02 8.33e-02 NONE PASS SKIP 0.00000 0.00000 0.00000 0.00000 0.00000 0.00000 na na na chr1 14930 14930 A G 4 2 0 5 11 5 0.4550 37 1.83e-01 2.29e-01 2.08e-02 NONE PASS SKIP 0.00000 0.00000 0.00000 0.00000 0.00000 0.00000 na na na chr1 68896 68896 G A 0 0 3 0 3 3 1.0000 18 8.33e-02 3.33e-01 8.33e-02 NONE PASS SKIP 0.00000 0.00000 0.00000 0.00000 0.00000 0.00000 na na na chr1 69270 69270 A G 0 0 31 0 31 31 1.0000 179 3.10e-10 3.33e-01 3.10e-10 NONE PASS SKIP 0.00000 0.00000 0.00000 0.00000 0.00000 0.00000 na na na chr1 69511 69511 A G 0 0 13 12 25 25 1.0000 222 3.33e-01 3.33e-01 3.33e-01 NONE PASS PASS 0.00000 0.00000 0.00000 0.00000 0.00000 0.00000 na na na chr1 69897 69897 T C 1 0 0 3 4 3 0.7500 14 2.08e-01 3.33e-01 8.33e-02 NONE PASS SKIP 0.00000 0.00000 0.00000 0.00000 0.00000 0.00000 na na na chr1 129285 129285 G A 0 4 0 4 8 4 0.5000 56 2.60e-03 4.17e-02 4.17e-02 NONE PASS SKIP 0.00000 0.00000 0.00000 0.00000 0.00000 0.00000 na na na chr1 567697 567697 G A 0 0 0 2 2 2 1.0000 30 1.67e-01 3.33e-01 1.67e-01 NONE PASS SKIP 0.00000 0.00000 0.00000 0.00000 0.00000 0.00000 na na na chr1 569803 569803 G A 0 0 4 0 4 4 1.0000 50 4.17e-02 3.33e-01 4.17e-02 NONE PASS SKIP 0.00000 0.00000 0.00000 0.00000 0.00000 0.00000 na na na chr1 808631 808631 G A 0 0 7 1 8 8 1.0000 142 2.34e-02 3.33e-01 2.34e-02 NONE PASS SKIP 0.00000 0.00000 0.00000 0.00000 0.00000 0.00000 na na na chr1 808922 808922 G A 0 0 15 26 41 41 1.0000 222 3.91e-02 3.33e-01 3.91e-02 NONE PASS PASS 0.00000 0.00000 0.00000 0.00000 0.00000 0.00000 na na na chr1 808928 808928 C T 0 0 14 31 45 45 1.0000 222 5.36e-03 3.33e-01 5.36e-03 NONE PASS PASS 0.00000 0.00000 0.00000 0.00000 0.00000 0.00000 na na na chr1 816725 816725 A G 0 0 2 0 2 2 1.0000 22 1.67e-01 3.33e-01 1.67e-01 NONE PASS SKIP 0.00000 0.00000 0.00000 0.00000 0.00000 0.00000 na na na chr1 821030 821030 G T 0 0 2 0 2 2 1.0000 36 1.67e-01 3.33e-01 1.67e-01 NONE PASS SKIP 0.00000 0.00000 0.00000 0.00000 0.00000 0.00000 na na na chr1 821143 821143 G T 0 0 0 2 2 2 1.0000 8 1.67e-01 3.33e-01 1.67e-01 NONE PASS SKIP 0.00000 0.00000 0.00000 0.00000 0.00000 0.00000 na na na ---- .. class:: infomark **Feedback**: romain.daveau@curie.fr </help> </tool>