Mercurial > repos > bgruening > pharmcat
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"planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit dddf99b20ed9b07334505917f362785e3dace3b9"
| author | bgruening |
|---|---|
| date | Thu, 05 May 2022 20:27:17 +0000 |
| parents | d67642a21a1d |
| children |
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{ "metadata": { "namedAlleleMatcherVersion": "1.0.0", "genomeBuild": "GRCh38.p13", "inputFilename": "input.vcf", "timestamp": "May 4, 2022, 8:57:03 PM" }, "results": [ { "alleleDefinitionVersion": "04/20/22", "chromosome": "chr4", "gene": "ABCG2", "diplotypes": [], "haplotypes": [], "phased": true, "variants": [], "variantsOfInterest": [], "matchData": { "missingPositions": [ { "chromosome": "chr4", "position": 88131171, "cpicPosition": 88131171, "rsid": "rs2231142", "chromosomeHgvsName": "g.88131171G\u003eT", "cpicAlleles": [ "G", "T" ], "cpicToVcfAlleleMap": { "T": "T", "G": "G" }, "ref": "G", "alts": [ "T" ] } ], "mismatchedAlleles": [] }, "uncallableHaplotypes": [ "rs2231142 variant (T)", "rs2231142 reference (G)" ], "ignoredHaplotypes": [] }, { "alleleDefinitionVersion": "04/20/22", "chromosome": "chr1", "gene": "CACNA1S", "diplotypes": [ { "name": "Reference/Reference", "haplotype1": { "name": "Reference", "sequences": [ "201060815:C;201091993:G;" ] }, "haplotype2": { "name": "Reference", "sequences": [ "201060815:C;201091993:G;" ] }, "score": 4 } ], "haplotypes": [ { "name": "Reference", "sequences": [ "201060815:C;201091993:G;" ] } ], "phased": true, "variants": [ { "position": 201060815, "rsid": "rs1800559", "vcfCall": "C|C" }, { "position": 201091993, "rsid": "rs772226819", "vcfCall": "G|G" } ], "variantsOfInterest": [], "matchData": { "missingPositions": [], "mismatchedAlleles": [] }, "uncallableHaplotypes": [], "ignoredHaplotypes": [] }, { "alleleDefinitionVersion": "04/20/22", "chromosome": "chr7", "gene": "CFTR", "diplotypes": [ { "name": "ivacaftor non-responsive CFTR sequence/ivacaftor non-responsive CFTR sequence", "haplotype1": { "name": "ivacaftor non-responsive CFTR sequence", "sequences": [ "117509035:G;117509069:C;117509089:C;117530953:G;117530955:C;117530974:C;117530975:G;117534318:G;117534363:G;117534368:A;117535285:T;117540270:G;117540285:G;117548795:C;117587799:A;117587800:G;117587801:T;117587805:G;117587806:G;117590409:A;117594930:G;117602868:G;117603708:C;117606695:C;117611555:A;117611595:T;117611620:A;117611640:G;117611646:G;117611649:C;117611650:G;117611663:T;117614699:G;117639961:C;117642451:G;117642472:G;117642483:T;117642528:G;117664770:G;" ] }, "haplotype2": { "name": "ivacaftor non-responsive CFTR sequence", "sequences": [ "117509035:G;117509069:C;117509089:C;117530953:G;117530955:C;117530974:C;117530975:G;117534318:G;117534363:G;117534368:A;117535285:T;117540270:G;117540285:G;117548795:C;117587799:A;117587800:G;117587801:T;117587805:G;117587806:G;117590409:A;117594930:G;117602868:G;117603708:C;117606695:C;117611555:A;117611595:T;117611620:A;117611640:G;117611646:G;117611649:C;117611650:G;117611663:T;117614699:G;117639961:C;117642451:G;117642472:G;117642483:T;117642528:G;117664770:G;" ] }, "score": 78 } ], "haplotypes": [ { "name": "ivacaftor non-responsive CFTR sequence", "sequences": [ "117509035:G;117509069:C;117509089:C;117530953:G;117530955:C;117530974:C;117530975:G;117534318:G;117534363:G;117534368:A;117535285:T;117540270:G;117540285:G;117548795:C;117587799:A;117587800:G;117587801:T;117587805:G;117587806:G;117590409:A;117594930:G;117602868:G;117603708:C;117606695:C;117611555:A;117611595:T;117611620:A;117611640:G;117611646:G;117611649:C;117611650:G;117611663:T;117614699:G;117639961:C;117642451:G;117642472:G;117642483:T;117642528:G;117664770:G;" ] } ], "phased": true, "variants": [ { "position": 117509035, "rsid": "rs397508256", "vcfCall": "G|G" }, { "position": 117509069, "rsid": "rs368505753", "vcfCall": "C|C" }, { "position": 117509089, "rsid": "rs115545701", "vcfCall": "C|C" }, { "position": 117530953, "rsid": "rs113993958", "vcfCall": "G|G" }, { "position": 117530955, "rsid": "rs397508537", "vcfCall": "C|C" }, { "position": 117530974, "rsid": "rs77834169", "vcfCall": "C|C" }, { "position": 117530975, "rsid": "rs78655421", "vcfCall": "G|G" }, { "position": 117534318, "rsid": "rs80282562", "vcfCall": "G|G" }, { "position": 117534363, "rsid": "rs397508759", "vcfCall": "G|G" }, { "position": 117534368, "rsid": "rs397508761", "vcfCall": "A|A" }, { "position": 117535285, "rsid": "rs121908752", "vcfCall": "T|T" }, { "position": 117540270, "rsid": "rs77932196", "vcfCall": "G|G" }, { "position": 117540285, "rsid": "rs121908753", "vcfCall": "G|G" }, { "position": 117548795, "rsid": "rs74551128", "vcfCall": "C|C" }, { "position": 117587799, "rsid": "rs121908757", "vcfCall": "A|A" }, { "position": 117587800, "rsid": "rs121908755", "vcfCall": "G|G" }, { "position": 117587801, "rsid": "rs121909005", "vcfCall": "T|T" }, { "position": 117587805, "rsid": "rs121909013", "vcfCall": "G|G" }, { "position": 117587806, "rsid": "rs75527207", "vcfCall": "G|G" }, { "position": 117590409, "rsid": "rs397508288", "vcfCall": "A|A" }, { "position": 117594930, "rsid": "rs397508387", "vcfCall": "G|G" }, { "position": 117602868, "rsid": "rs80224560", "vcfCall": "G|G" }, { "position": 117603708, "rsid": "rs397508442", "vcfCall": "C|C" }, { "position": 117606695, "rsid": "rs141033578", "vcfCall": "C|C" }, { "position": 117611555, "rsid": "rs76151804", "vcfCall": "A|A" }, { "position": 117611595, "rsid": "rs150212784", "vcfCall": "T|T" }, { "position": 117611620, "rsid": "rs397508513", "vcfCall": "A|A" }, { "position": 117611640, "rsid": "rs121909020", "vcfCall": "G|G" }, { "position": 117611646, "rsid": "rs200321110", "vcfCall": "G|G" }, { "position": 117611649, "rsid": "rs202179988", "vcfCall": "C|C" }, { "position": 117611650, "rsid": "rs78769542", "vcfCall": "G|G" }, { "position": 117611663, "rsid": "rs186045772", "vcfCall": "T|T" }, { "position": 117614699, "rsid": "rs75541969", "vcfCall": "G|G" }, { "position": 117639961, "rsid": "rs75039782", "vcfCall": "C|C" }, { "position": 117642451, "rsid": "rs267606723", "vcfCall": "G|G" }, { "position": 117642472, "rsid": "rs74503330", "vcfCall": "G|G" }, { "position": 117642483, "rsid": "rs121909041", "vcfCall": "T|T" }, { "position": 117642528, "rsid": "rs11971167", "vcfCall": "G|G" }, { "position": 117664770, "rsid": "rs193922525", "vcfCall": "G|G" } ], "variantsOfInterest": [], "matchData": { "missingPositions": [], "mismatchedAlleles": [] }, "uncallableHaplotypes": [], "ignoredHaplotypes": [] }, { "alleleDefinitionVersion": "04/20/22", "chromosome": "chr19", "gene": "CYP2B6", "diplotypes": [ { "name": "*1/*1", "haplotype1": { "name": "*1", "sequences": [ "40991224:T;40991367:A;40991369:C;40991381:A;40991388:A;40991390:C;40991391:G;40991441:A;41004015:T;41004125:G;41004158:G;41004303:T;41004377:A;41004381:G;41004406:G;41006919:C;41006923:C;41006936:G;41006968:T;41007013:T;41009350:C;41009358:A;41010006:G;41010088:C;41010108:C;41012316:T;41012339:C;41012465:C;41012693:T;41012740:G;41012803:C;41016726:A;41016778:G;41016805:A;41016810:C;" ] }, "haplotype2": { "name": "*1", "sequences": [ "40991224:T;40991367:A;40991369:C;40991381:A;40991388:A;40991390:C;40991391:G;40991441:A;41004015:T;41004125:G;41004158:G;41004303:T;41004377:A;41004381:G;41004406:G;41006919:C;41006923:C;41006936:G;41006968:T;41007013:T;41009350:C;41009358:A;41010006:G;41010088:C;41010108:C;41012316:T;41012339:C;41012465:C;41012693:T;41012740:G;41012803:C;41016726:A;41016778:G;41016805:A;41016810:C;" ] }, "score": 70 } ], "haplotypes": [ { "name": "*1", "sequences": [ "40991224:T;40991367:A;40991369:C;40991381:A;40991388:A;40991390:C;40991391:G;40991441:A;41004015:T;41004125:G;41004158:G;41004303:T;41004377:A;41004381:G;41004406:G;41006919:C;41006923:C;41006936:G;41006968:T;41007013:T;41009350:C;41009358:A;41010006:G;41010088:C;41010108:C;41012316:T;41012339:C;41012465:C;41012693:T;41012740:G;41012803:C;41016726:A;41016778:G;41016805:A;41016810:C;" ] } ], "phased": true, "variants": [ { "position": 40991224, "rsid": "rs34223104", "vcfCall": "T|T" }, { "position": 40991367, "rsid": "rs34883432", "vcfCall": "A|A" }, { "position": 40991369, "rsid": "rs8192709", "vcfCall": "C|C" }, { "position": 40991381, "rsid": "rs33973337", "vcfCall": "A|A" }, { "position": 40991388, "rsid": "rs33980385", "vcfCall": "A|A" }, { "position": 40991390, "rsid": "rs33926104", "vcfCall": "C|C" }, { "position": 40991391, "rsid": "rs34284776", "vcfCall": "G|G" }, { "position": 40991441, "rsid": "rs35303484", "vcfCall": "A|A" }, { "position": 41004015, "rsid": "rs281864907", "vcfCall": "T|T" }, { "position": 41004125, "rsid": "rs36060847", "vcfCall": "G|G" }, { "position": 41004158, "rsid": "rs186335453", "vcfCall": "G|G" }, { "position": 41004303, "rsid": "rs139801276", "vcfCall": "T|T" }, { "position": 41004377, "rsid": "rs12721655", "vcfCall": "A|A" }, { "position": 41004381, "rsid": "rs35773040", "vcfCall": "G|G" }, { "position": 41004406, "rsid": "rs145884402", "vcfCall": "G|G" }, { "position": 41006919, "rsid": "rs3826711", "vcfCall": "C|C" }, { "position": 41006923, "rsid": "rs36056539", "vcfCall": "C|C" }, { "position": 41006936, "rsid": "rs3745274", "vcfCall": "G|G" }, { "position": 41006968, "rsid": "rs373489637", "vcfCall": "T|T" }, { "position": 41007013, "rsid": "rs36079186", "vcfCall": "T|T" }, { "position": 41009350, "rsid": "rs45482602", "vcfCall": "C|C" }, { "position": 41009358, "rsid": "rs2279343", "vcfCall": "A|A" }, { "position": 41010006, "rsid": "rs139029625", "vcfCall": "G|G" }, { "position": 41010088, "rsid": "rs34698757", "vcfCall": "C|C" }, { "position": 41010108, "rsid": "rs193922917", "vcfCall": "C|C" }, { "position": 41012316, "rsid": "rs28399499", "vcfCall": "T|T" }, { "position": 41012339, "rsid": "rs34826503", "vcfCall": "C|C" }, { "position": 41012465, "rsid": "rs34097093", "vcfCall": "C|C" }, { "position": 41012693, "rsid": "rs35979566", "vcfCall": "T|T" }, { "position": 41012740, "rsid": "rs193922918", "vcfCall": "G|G" }, { "position": 41012803, "rsid": "rs35010098", "vcfCall": "C|C" }, { "position": 41016726, "rsid": "rs3211369", "vcfCall": "A|A" }, { "position": 41016778, "rsid": "rs564083989", "vcfCall": "G|G" }, { "position": 41016805, "rsid": null, "vcfCall": "A|A" }, { "position": 41016810, "rsid": "rs3211371", "vcfCall": "C|C" } ], "variantsOfInterest": [], "matchData": { "missingPositions": [], "mismatchedAlleles": [] }, "uncallableHaplotypes": [], "ignoredHaplotypes": [] }, { "alleleDefinitionVersion": "04/20/22", "chromosome": "chr10", "gene": "CYP2C19", "diplotypes": [ { "name": "*38/*38", "haplotype1": { "name": "*38", "sequences": [ "94761900:C;94762706:A;94762712:C;94762715:T;94762755:T;94762760:A;94762788:A;94762856:A;94775106:C;94775121:C;94775160:G;94775185:A;94775367:A;94775416:T;94775423:A;94775453:G;94775489:G;94775507:G;94780574:G;94780579:G;94780653:G;94781858:C;94781859:G;94781944:G;94781999:T;94842861:G;94842866:A;94842879:G;94842995:G;94849995:C;94852738:C;94852765:C;94852785:C;94852914:A;" ] }, "haplotype2": { "name": "*38", "sequences": [ "94761900:C;94762706:A;94762712:C;94762715:T;94762755:T;94762760:A;94762788:A;94762856:A;94775106:C;94775121:C;94775160:G;94775185:A;94775367:A;94775416:T;94775423:A;94775453:G;94775489:G;94775507:G;94780574:G;94780579:G;94780653:G;94781858:C;94781859:G;94781944:G;94781999:T;94842861:G;94842866:A;94842879:G;94842995:G;94849995:C;94852738:C;94852765:C;94852785:C;94852914:A;" ] }, "score": 68 } ], "haplotypes": [ { "name": "*38", "sequences": [ "94761900:C;94762706:A;94762712:C;94762715:T;94762755:T;94762760:A;94762788:A;94762856:A;94775106:C;94775121:C;94775160:G;94775185:A;94775367:A;94775416:T;94775423:A;94775453:G;94775489:G;94775507:G;94780574:G;94780579:G;94780653:G;94781858:C;94781859:G;94781944:G;94781999:T;94842861:G;94842866:A;94842879:G;94842995:G;94849995:C;94852738:C;94852765:C;94852785:C;94852914:A;" ] } ], "phased": true, "variants": [ { "position": 94761900, "rsid": "rs12248560", "vcfCall": "C|C" }, { "position": 94762706, "rsid": "rs28399504", "vcfCall": "A|A" }, { "position": 94762712, "rsid": "rs367543002", "vcfCall": "C|C" }, { "position": 94762715, "rsid": "rs367543003", "vcfCall": "T|T" }, { "position": 94762755, "rsid": "rs55752064", "vcfCall": "T|T" }, { "position": 94762760, "rsid": "rs17882687", "vcfCall": "A|A" }, { "position": 94762788, "rsid": "rs1564656981", "vcfCall": "A|A" }, { "position": 94762856, "rsid": "rs1564657013", "vcfCall": "A|A" }, { "position": 94775106, "rsid": "rs145328984", "vcfCall": "C|C" }, { "position": 94775121, "rsid": "rs1564660997", "vcfCall": "C|C" }, { "position": 94775160, "rsid": "rs118203756", "vcfCall": "G|G" }, { "position": 94775185, "rsid": "rs1288601658", "vcfCall": "A|A" }, { "position": 94775367, "rsid": "rs12769205", "vcfCall": "A|A" }, { "position": 94775416, "rsid": "rs41291556", "vcfCall": "T|T" }, { "position": 94775423, "rsid": "rs17885179", "vcfCall": "A|A" }, { "position": 94775453, "rsid": "rs72552267", "vcfCall": "G|G" }, { "position": 94775489, "rsid": "rs17884712", "vcfCall": "G|G" }, { "position": 94775507, "rsid": "rs58973490", "vcfCall": "G|G" }, { "position": 94780574, "rsid": "rs140278421", "vcfCall": "G|G" }, { "position": 94780579, "rsid": "rs370803989", "vcfCall": "G|G" }, { "position": 94780653, "rsid": "rs4986893", "vcfCall": "G|G" }, { "position": 94781858, "rsid": "rs6413438", "vcfCall": "C|C" }, { "position": 94781859, "rsid": "rs4244285", "vcfCall": "G|G" }, { "position": 94781944, "rsid": "rs375781227", "vcfCall": "G|G" }, { "position": 94781999, "rsid": "rs72558186", "vcfCall": "T|T" }, { "position": 94842861, "rsid": "rs138142612", "vcfCall": "G|G" }, { "position": 94842866, "rsid": "rs3758581", "vcfCall": "A|A" }, { "position": 94842879, "rsid": "rs118203757", "vcfCall": "G|G" }, { "position": 94842995, "rsid": "rs113934938", "vcfCall": "G|G" }, { "position": 94849995, "rsid": "rs17879685", "vcfCall": "C|C" }, { "position": 94852738, "rsid": "rs56337013", "vcfCall": "C|C" }, { "position": 94852765, "rsid": "rs192154563", "vcfCall": "C|C" }, { "position": 94852785, "rsid": "rs118203759", "vcfCall": "C|C" }, { "position": 94852914, "rsid": "rs55640102", "vcfCall": "A|A" } ], "variantsOfInterest": [], "matchData": { "missingPositions": [], "mismatchedAlleles": [] }, "uncallableHaplotypes": [], "ignoredHaplotypes": [] }, { "alleleDefinitionVersion": "04/20/22", "chromosome": "chr10", "gene": "CYP2C9", "diplotypes": [ { "name": "*1/*1", "haplotype1": { "name": "*1", "sequences": [ "94938683:A;94938737:C;94938771:C;94938803:A;94938828:A;94941897:G;94941915:G;94941958:T;94941976:G;94941982:G;94942018:T;94942205:CAATGGAAAGA;94942216:A;94942230:C;94942231:G;94942233:C;94942234:G;94942249:C;94942254:C;94942255:G;94942290:C;94942291:G;94942305:G;94942309:G;94947782:C;94947785:C;94947869:A;94947907:A;94947917:T;94947938:A;94949129:A;94949144:C;94949217:A;94949280:A;94949281:GA;94972119:C;94972123:C;94972134:A;94972179:A;94972180:C;94972233:C;94981199:G;94981201:T;94981224:C;94981225:G;94981230:C;94981250:C;94981281:G;94981296:A;94981297:T;94981301:C;94981302:C;94981305:C;94981365:C;94981371:G;94986042:A;94986073:A;94988852:C;94988855:A;94988880:G;94988917:G;94988925:A;94988955:T;94988984:G;94989020:C;94989023:G;" ] }, "haplotype2": { "name": "*1", "sequences": [ "94938683:A;94938737:C;94938771:C;94938803:A;94938828:A;94941897:G;94941915:G;94941958:T;94941976:G;94941982:G;94942018:T;94942205:CAATGGAAAGA;94942216:A;94942230:C;94942231:G;94942233:C;94942234:G;94942249:C;94942254:C;94942255:G;94942290:C;94942291:G;94942305:G;94942309:G;94947782:C;94947785:C;94947869:A;94947907:A;94947917:T;94947938:A;94949129:A;94949144:C;94949217:A;94949280:A;94949281:GA;94972119:C;94972123:C;94972134:A;94972179:A;94972180:C;94972233:C;94981199:G;94981201:T;94981224:C;94981225:G;94981230:C;94981250:C;94981281:G;94981296:A;94981297:T;94981301:C;94981302:C;94981305:C;94981365:C;94981371:G;94986042:A;94986073:A;94988852:C;94988855:A;94988880:G;94988917:G;94988925:A;94988955:T;94988984:G;94989020:C;94989023:G;" ] }, "score": 132 } ], "haplotypes": [ { "name": "*1", "sequences": [ 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"haplotype2": { "name": "*1", "sequences": [ "15879621:C;15897578:A;" ] }, "score": 4 } ], "haplotypes": [ { "name": "*1", "sequences": [ "15879621:C;15897578:A;" ] } ], "phased": true, "variants": [ { "position": 15879621, "rsid": "rs2108622", "vcfCall": "C|C" }, { "position": 15897578, "rsid": "rs3093105", "vcfCall": "A|A" } ], "variantsOfInterest": [], "matchData": { "missingPositions": [], "mismatchedAlleles": [] }, "uncallableHaplotypes": [], "ignoredHaplotypes": [] }, { "alleleDefinitionVersion": "04/20/22", "chromosome": "chr1", "gene": "DPYD", "diplotypes": [ { "name": "Reference/Reference", "haplotype1": { "name": "Reference", "sequences": [ 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"rs114096998", "vcfCall": "G|G" }, { "position": 97078993, "rsid": "rs148799944", "vcfCall": "C|C" }, { "position": 97079005, "rsid": "rs140114515", "vcfCall": "C|C" }, { "position": 97079071, "rsid": "rs1801268", "vcfCall": "C|C" }, { "position": 97079076, "rsid": "rs139459586", "vcfCall": "A|A" }, { "position": 97079077, "rsid": "rs202144771", "vcfCall": "G|G" }, { "position": 97079121, "rsid": "rs72547601", "vcfCall": "T|T" }, { "position": 97079133, "rsid": "rs72547602", "vcfCall": "T|T" }, { "position": 97079139, "rsid": "rs145529148", "vcfCall": "T|T" }, { "position": 97082365, "rsid": "rs141044036", "vcfCall": "T|T" }, { "position": 97082391, "rsid": "rs67376798", "vcfCall": "T|T" }, { "position": 97098598, "rsid": "rs1801267", "vcfCall": "C|C" }, { "position": 97098599, "rsid": "rs147545709", "vcfCall": "G|G" }, { "position": 97098616, "rsid": "rs55674432", "vcfCall": "C|C" }, { "position": 97098632, "rsid": "rs201035051", "vcfCall": "T|T" }, { "position": 97193109, "rsid": "rs60139309", "vcfCall": "T|T" }, { "position": 97193209, "rsid": "rs200687447", "vcfCall": "C|C" }, { "position": 97234958, "rsid": "rs199634007", "vcfCall": "G|G" }, { "position": 97234991, "rsid": "rs56005131", "vcfCall": "G|G" }, { "position": 97305279, "rsid": "rs112766203", "vcfCall": "G|G" }, { "position": 97305363, "rsid": "rs60511679", "vcfCall": "A|A" }, { "position": 97305364, "rsid": "rs1801160", "vcfCall": "C|C" }, { "position": 97305372, "rsid": "rs146529561", "vcfCall": "G|G" }, { "position": 97306195, "rsid": "rs145548112", "vcfCall": "C|C" }, { "position": 97373598, "rsid": "rs137999090", "vcfCall": "C|C" }, { "position": 97373629, "rsid": "rs138545885", "vcfCall": "C|C" }, { "position": 97382461, "rsid": "rs55971861", "vcfCall": "T|T" }, { "position": 97450058, "rsid": "rs3918290", "vcfCall": "C|C" }, { "position": 97450059, "rsid": "rs3918289", "vcfCall": "G|G" }, { "position": 97450065, "rsid": "rs72549303", "vcfCall": "TG|TG" }, { "position": 97450068, "rsid": "rs17376848", "vcfCall": "A|A" }, { "position": 97450168, "rsid": "rs147601618", "vcfCall": "A|A" }, { "position": 97450187, "rsid": "rs145773863", "vcfCall": "C|C" }, { "position": 97450189, "rsid": "rs138616379", "vcfCall": "C|C" }, { "position": 97450190, "rsid": "rs59086055", "vcfCall": "G|G" }, { "position": 97515784, "rsid": "rs201615754", "vcfCall": "C|C" }, { "position": 97515787, "rsid": "rs55886062", "vcfCall": "A|A" }, { "position": 97515839, "rsid": "rs1801159", "vcfCall": "T|T" }, { "position": 97515851, "rsid": "rs142619737", "vcfCall": "C|C" }, { "position": 97515865, "rsid": "rs1801158", "vcfCall": "C|C" }, { "position": 97515889, "rsid": "rs190951787", "vcfCall": "G|G" }, { "position": 97515923, "rsid": "rs148994843", "vcfCall": "C|C" }, { "position": 97549565, "rsid": "rs138391898", "vcfCall": "C|C" }, { "position": 97549600, "rsid": "rs111858276", "vcfCall": "T|T" }, { "position": 97549609, "rsid": "rs72549304", "vcfCall": "G|G" }, { "position": 97549681, "rsid": "rs199549923", "vcfCall": "G|G" }, { "position": 97549713, "rsid": "rs57918000", "vcfCall": "G|G" }, { "position": 97549726, "rsid": "rs144395748", "vcfCall": "G|G" }, { "position": 97549735, "rsid": "rs72975710", "vcfCall": "G|G" }, { "position": 97573785, "rsid": "rs186169810", "vcfCall": "A|A" }, { "position": 97573805, "rsid": "rs142512579", "vcfCall": "C|C" }, { "position": 97573821, "rsid": "rs764666241", "vcfCall": "C|C" }, { "position": 97573839, "rsid": "rs200064537", "vcfCall": "A|A" }, { "position": 97573863, "rsid": "rs56038477", "vcfCall": "C|C" }, { "position": 97573881, "rsid": "rs61622928", "vcfCall": "C|C" }, { "position": 97573918, "rsid": "rs143815742", "vcfCall": "C|C" }, { "position": 97573919, "rsid": "rs140602333", "vcfCall": "G|G" }, { "position": 97573943, "rsid": "rs78060119", "vcfCall": "C|C" }, { "position": 97579893, "rsid": "rs75017182", "vcfCall": "G|G" }, { "position": 97593238, "rsid": "rs72549305", "vcfCall": "T|T" }, { "position": 97593289, "rsid": "rs143154602", "vcfCall": "G|G" }, { "position": 97593322, "rsid": "rs183385770", "vcfCall": "C|C" }, { "position": 97593343, "rsid": "rs72549306", "vcfCall": "C|C" }, { "position": 97593379, "rsid": "rs201018345", "vcfCall": "C|C" }, { "position": 97595083, "rsid": "rs145112791", "vcfCall": "G|G" }, { "position": 97595088, "rsid": "rs150437414", "vcfCall": "A|A" }, { "position": 97595149, "rsid": "rs146356975", "vcfCall": "T|T" }, { "position": 97679170, "rsid": "rs45589337", "vcfCall": "T|T" }, { "position": 97691776, "rsid": "rs1801266", "vcfCall": "G|G" }, { "position": 97699399, "rsid": "rs72549307", "vcfCall": "T|T" }, { "position": 97699430, "rsid": "rs72549308", "vcfCall": "T|T" }, { "position": 97699474, "rsid": "rs115232898", "vcfCall": "T|T" }, { "position": 97699506, "rsid": "rs6670886", "vcfCall": "C|C" }, { "position": 97699533, "rsid": "rs139834141", "vcfCall": "C|C" }, { "position": 97699535, "rsid": "rs2297595", "vcfCall": "T|T" }, { "position": 97721542, "rsid": "rs200562975", "vcfCall": "T|T" }, { "position": 97721650, "rsid": "rs141462178", "vcfCall": "T|T" }, { "position": 97740400, "rsid": "rs150385342", "vcfCall": "C|C" }, { "position": 97740410, "rsid": "rs72549309", "vcfCall": "GATGA|GATGA" }, { "position": 97883329, "rsid": "rs1801265", "vcfCall": "A|A" }, { "position": 97883352, "rsid": "rs80081766", "vcfCall": "C|C" }, { "position": 97883353, "rsid": "rs72549310", "vcfCall": "G|G" }, { "position": 97883368, "rsid": "rs150036960", "vcfCall": "G|G" } ], "variantsOfInterest": [], "matchData": { "missingPositions": [], "mismatchedAlleles": [] }, "uncallableHaplotypes": [], "ignoredHaplotypes": [] }, { "alleleDefinitionVersion": "04/20/22", "chromosome": "chr19", "gene": "IFNL3", "diplotypes": [ { "name": "rs12979860 reference (C)/rs12979860 reference (C)", "haplotype1": { "name": "rs12979860 reference (C)", "sequences": [ "39248147:C;" ] }, "haplotype2": { "name": "rs12979860 reference (C)", "sequences": [ "39248147:C;" ] }, "score": 2 } ], "haplotypes": [ { "name": "rs12979860 reference (C)", "sequences": [ "39248147:C;" ] } ], "phased": true, "variants": [ { "position": 39248147, "rsid": "rs12979860", "vcfCall": "C|C" } ], "variantsOfInterest": [], "matchData": { "missingPositions": [], "mismatchedAlleles": [] }, "uncallableHaplotypes": [], "ignoredHaplotypes": [] }, { "alleleDefinitionVersion": "04/20/22", "chromosome": "chr13", "gene": "NUDT15", "diplotypes": [ { "name": "*1/*1", "haplotype1": { "name": "*1", "sequences": [ "48037748:T;48037749:G;48037782:AGGAGTC;48037798:G;48037825:C;48037834:C;48037847:G;48037849:A;48037885:G;48037902:C;48040977:GA;48041103:T;48041113:G;48045690:C;48045719:C;48045720:G;48045771:T;" ] }, "haplotype2": { "name": "*1", "sequences": [ "48037748:T;48037749:G;48037782:AGGAGTC;48037798:G;48037825:C;48037834:C;48037847:G;48037849:A;48037885:G;48037902:C;48040977:GA;48041103:T;48041113:G;48045690:C;48045719:C;48045720:G;48045771:T;" ] }, "score": 34 } ], "haplotypes": [ { "name": "*1", "sequences": [ "48037748:T;48037749:G;48037782:AGGAGTC;48037798:G;48037825:C;48037834:C;48037847:G;48037849:A;48037885:G;48037902:C;48040977:GA;48041103:T;48041113:G;48045690:C;48045719:C;48045720:G;48045771:T;" ] } ], "phased": true, "variants": [ { "position": 48037748, "rsid": "rs769369441", "vcfCall": "T|T" }, { "position": 48037749, "rsid": null, "vcfCall": "G|G" }, { "position": 48037782, "rsid": "rs746071566", "vcfCall": "AGGAGTC|AGGAGTC" }, { "position": 48037798, "rsid": "rs186364861", "vcfCall": "G|G" }, { "position": 48037825, "rsid": "rs777311140", "vcfCall": "C|C" }, { "position": 48037834, "rsid": "rs1202487323", "vcfCall": "C|C" }, { "position": 48037847, "rsid": "rs766023281", "vcfCall": "G|G" }, { "position": 48037849, "rsid": null, "vcfCall": "A|A" }, { "position": 48037885, "rsid": "rs1950545307", "vcfCall": "G|G" }, { "position": 48037902, "rsid": "rs149436418", "vcfCall": "C|C" }, { "position": 48040977, "rsid": "rs1457579126", "vcfCall": "GA|GA" }, { "position": 48041103, "rsid": "rs761191455", "vcfCall": "T|T" }, { "position": 48041113, "rsid": "rs1368252918", "vcfCall": "G|G" }, { "position": 48045690, "rsid": "rs768324690", "vcfCall": "C|C" }, { "position": 48045719, "rsid": "rs116855232", "vcfCall": "C|C" }, { "position": 48045720, "rsid": "rs147390019", "vcfCall": "G|G" }, { "position": 48045771, "rsid": "rs139551410", "vcfCall": "T|T" } ], "variantsOfInterest": [], "matchData": { "missingPositions": [], "mismatchedAlleles": [] }, "uncallableHaplotypes": [], "ignoredHaplotypes": [] }, { "alleleDefinitionVersion": "04/20/22", "chromosome": "chr19", "gene": "RYR1", "diplotypes": [ { "name": "Reference/Reference", "haplotype1": { "name": "Reference", "sequences": [ "38440802:T;38440829:C;38444211:C;38444212:G;38446710:G;38448673:C;38448712:G;38451842:C;38451850:C;38455359:A;38455463:G;38455471:C;38455472:G;38455528:C;38457545:C;38457546:G;38494564:C;38494565:G;38494579:G;38496283:C;38499223:G;38499644:TGGA;38499655:G;38499670:C;38499731:G;38499975:G;38499993:G;38499997:G;38500636:C;38500642:C;38500643:G;38500654:C;38500655:G;38500898:C;38500899:G;38512321:G;38543832:G;38580004:A;38580094:C;38580114:C;38580370:C;38580403:G;38580440:G;38584989:T;" ] }, "haplotype2": { "name": "Reference", "sequences": [ "38440802:T;38440829:C;38444211:C;38444212:G;38446710:G;38448673:C;38448712:G;38451842:C;38451850:C;38455359:A;38455463:G;38455471:C;38455472:G;38455528:C;38457545:C;38457546:G;38494564:C;38494565:G;38494579:G;38496283:C;38499223:G;38499644:TGGA;38499655:G;38499670:C;38499731:G;38499975:G;38499993:G;38499997:G;38500636:C;38500642:C;38500643:G;38500654:C;38500655:G;38500898:C;38500899:G;38512321:G;38543832:G;38580004:A;38580094:C;38580114:C;38580370:C;38580403:G;38580440:G;38584989:T;" ] }, "score": 88 } ], "haplotypes": [ { "name": "Reference", "sequences": [ "38440802:T;38440829:C;38444211:C;38444212:G;38446710:G;38448673:C;38448712:G;38451842:C;38451850:C;38455359:A;38455463:G;38455471:C;38455472:G;38455528:C;38457545:C;38457546:G;38494564:C;38494565:G;38494579:G;38496283:C;38499223:G;38499644:TGGA;38499655:G;38499670:C;38499731:G;38499975:G;38499993:G;38499997:G;38500636:C;38500642:C;38500643:G;38500654:C;38500655:G;38500898:C;38500899:G;38512321:G;38543832:G;38580004:A;38580094:C;38580114:C;38580370:C;38580403:G;38580440:G;38584989:T;" ] } ], "phased": true, "variants": [ { "position": 38440802, "rsid": "rs193922747", "vcfCall": "T|T" }, { "position": 38440829, "rsid": "rs193922748", "vcfCall": "C|C" }, { "position": 38444211, "rsid": "rs118192161", "vcfCall": "C|C" }, { "position": 38444212, "rsid": "rs193922753", "vcfCall": "G|G" }, { "position": 38446710, "rsid": "rs1801086", "vcfCall": "G|G" }, { "position": 38448673, "rsid": "rs193922762", "vcfCall": "C|C" }, { "position": 38448712, "rsid": "rs121918592", "vcfCall": "G|G" }, { "position": 38451842, "rsid": "rs193922764", "vcfCall": "C|C" }, { "position": 38451850, "rsid": "rs118192116", "vcfCall": "C|C" }, { "position": 38455359, "rsid": "rs118192162", "vcfCall": "A|A" }, { "position": 38455463, "rsid": "rs111888148", "vcfCall": "G|G" }, { "position": 38455471, "rsid": "rs193922768", "vcfCall": "C|C" }, { "position": 38455472, "rsid": "rs144336148", "vcfCall": "G|G" }, { "position": 38455528, "rsid": "rs193922770", "vcfCall": "C|C" }, { "position": 38457545, "rsid": "rs118192172", "vcfCall": "C|C" }, { "position": 38457546, "rsid": "rs193922772", "vcfCall": "G|G" }, { "position": 38494564, "rsid": "rs118192175", "vcfCall": "C|C" }, { "position": 38494565, "rsid": "rs118192163", "vcfCall": "G|G" }, { "position": 38494579, "rsid": "rs118192176", "vcfCall": "G|G" }, { "position": 38496283, "rsid": "rs118192177", "vcfCall": "C|C" }, { "position": 38499223, "rsid": "rs112563513", "vcfCall": "G|G" }, { "position": 38499644, "rsid": "rs121918596", "vcfCall": "TGGA|TGGA" }, { "position": 38499655, "rsid": "rs193922802", "vcfCall": "G|G" }, { "position": 38499670, "rsid": "rs193922803", "vcfCall": "C|C" }, { "position": 38499731, "rsid": "rs193922807", "vcfCall": "G|G" }, { "position": 38499975, "rsid": "rs193922809", "vcfCall": "G|G" }, { "position": 38499993, "rsid": "rs121918593", "vcfCall": "G|G" }, { "position": 38499997, "rsid": "rs28933396", "vcfCall": "G|G" }, { "position": 38500636, "rsid": "rs118192124", "vcfCall": "C|C" }, { "position": 38500642, "rsid": "rs193922816", "vcfCall": "C|C" }, { "position": 38500643, "rsid": "rs118192122", "vcfCall": "G|G" }, { "position": 38500654, "rsid": "rs28933397", "vcfCall": "C|C" }, { "position": 38500655, "rsid": "rs121918594", "vcfCall": "G|G" }, { "position": 38500898, "rsid": "rs118192178", "vcfCall": "C|C" }, { "position": 38500899, "rsid": "rs193922818", "vcfCall": "G|G" }, { "position": 38512321, "rsid": "rs193922832", "vcfCall": "G|G" }, { "position": 38543832, "rsid": "rs193922843", "vcfCall": "G|G" }, { "position": 38580004, "rsid": "rs118192167", "vcfCall": "A|A" }, { "position": 38580094, "rsid": "rs121918595", "vcfCall": "C|C" }, { "position": 38580114, "rsid": "rs193922876", "vcfCall": "C|C" }, { "position": 38580370, "rsid": "rs193922878", "vcfCall": "C|C" }, { "position": 38580403, "rsid": "rs118192168", "vcfCall": "G|G" }, { "position": 38580440, "rsid": "rs63749869", "vcfCall": "G|G" }, { "position": 38584989, "rsid": "rs118192170", "vcfCall": "T|T" } ], "variantsOfInterest": [], "matchData": { "missingPositions": [], "mismatchedAlleles": [] }, "uncallableHaplotypes": [], "ignoredHaplotypes": [] }, { "alleleDefinitionVersion": "04/20/22", "chromosome": "chr12", "gene": "SLCO1B1", "diplotypes": [ { "name": "*1/*1", "haplotype1": { "name": "*1", "sequences": [ "21172734:C;21172776:G;21172782:T;21174595:T;21176804:A;21176868:A;21176879:C;21176883:A;21178615:T;21178957:A;21196951:A;21196976:G;21200595:T;21202553:T;21202555:C;21202649:A;21202664:G;21205921:A;21205999:G;21239042:A;21239077:A;21239113:A;21239145:C;21239158:C;" ] }, "haplotype2": { "name": "*1", "sequences": [ "21172734:C;21172776:G;21172782:T;21174595:T;21176804:A;21176868:A;21176879:C;21176883:A;21178615:T;21178957:A;21196951:A;21196976:G;21200595:T;21202553:T;21202555:C;21202649:A;21202664:G;21205921:A;21205999:G;21239042:A;21239077:A;21239113:A;21239145:C;21239158:C;" ] }, "score": 48 } ], "haplotypes": [ { "name": "*1", "sequences": [ "21172734:C;21172776:G;21172782:T;21174595:T;21176804:A;21176868:A;21176879:C;21176883:A;21178615:T;21178957:A;21196951:A;21196976:G;21200595:T;21202553:T;21202555:C;21202649:A;21202664:G;21205921:A;21205999:G;21239042:A;21239077:A;21239113:A;21239145:C;21239158:C;" ] } ], "phased": true, "variants": [ { "position": 21172734, "rsid": "rs139257324", "vcfCall": "C|C" }, { "position": 21172776, "rsid": "rs373327528", "vcfCall": "G|G" }, { "position": 21172782, "rsid": "rs56101265", "vcfCall": "T|T" }, { "position": 21174595, "rsid": "rs56061388", "vcfCall": "T|T" }, { "position": 21176804, "rsid": "rs2306283", "vcfCall": "A|A" }, { "position": 21176868, "rsid": "rs2306282", "vcfCall": "A|A" }, { "position": 21176879, "rsid": "rs11045819", "vcfCall": "C|C" }, { "position": 21176883, "rsid": "rs72559745", "vcfCall": "A|A" }, { "position": 21178615, "rsid": "rs4149056", "vcfCall": "T|T" }, { "position": 21178957, "rsid": "rs79135870", "vcfCall": "A|A" }, { "position": 21196951, "rsid": "rs11045852", "vcfCall": "A|A" }, { "position": 21196976, "rsid": "rs11045853", "vcfCall": "G|G" }, { "position": 21200595, "rsid": "rs55901008", "vcfCall": "T|T" }, { "position": 21202553, "rsid": "rs1228465562", "vcfCall": "T|T" }, { "position": 21202555, "rsid": "rs59113707", "vcfCall": "C|C" }, { "position": 21202649, "rsid": 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