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reproduce_setup/pgx-main/pgx_results/CAN-NA24385-2-29Mar2025_S23_pgx_result/matcher.json

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{
"metadata": {
"namedAlleleMatcherVersion": "1.0.0",
"genomeBuild": "GRCh38.p13",
"inputFilename": "pharmcat.vcf",
"timestamp": "Aug 15, 2025, 2:22:44 PM"
},
"results": [
{
"alleleDefinitionVersion": "05/05/22",
"chromosome": "chr4",
"gene": "ABCG2",
"diplotypes": [
{
"name": "rs2231142 reference (G)/rs2231142 reference (G)",
"haplotype1": {
"name": "rs2231142 reference (G)",
"sequences": [
"88131171:G;"
]
},
"haplotype2": {
"name": "rs2231142 reference (G)",
"sequences": [
"88131171:G;"
]
},
"score": 2
}
],
"haplotypes": [
{
"name": "rs2231142 reference (G)",
"sequences": [
"88131171:G;"
]
}
],
"phased": true,
"variants": [
{
"position": 88131171,
"rsid": "rs2231142",
"vcfCall": "G|G"
}
],
"variantsOfInterest": [],
"matchData": {
"missingPositions": [],
"mismatchedAlleles": []
},
"uncallableHaplotypes": [],
"ignoredHaplotypes": []
},
{
"alleleDefinitionVersion": "05/05/22",
"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,
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{
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{
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{
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{
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{
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{
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}
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"uncallableHaplotypes": [],
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},
{
"alleleDefinitionVersion": "08/05/22",
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{
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{
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},
{
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{
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},
{
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{
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},
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},
{
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},
{
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},
{
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},
{
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},
{
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},
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},
{
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],
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{
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{
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]
},
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]
},
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],
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]
},
{
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]
}
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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},
{
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{
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{
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{
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{
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},
{
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},
{
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{
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{
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{
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{
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},
{
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{
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{
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{
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{
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{
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{
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],
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},
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},
{
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{
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]
},
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]
},
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}
],
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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},
{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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]
},
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}
],
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]
}
],
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{
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{
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{
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{
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{
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{
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{
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},
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},
{
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{
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]
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{
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{
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{
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{
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],
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},
{
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]
},
"score": 88
}
],
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{
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]
}
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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},
{
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{
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{
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{
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},
{
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{
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{
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{
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{
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{
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{
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{
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{
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},
{
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{
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},
{
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},
{
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},
{
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},
{
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{
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{
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},
{
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},
{
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},
{
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},
{
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{
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{
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},
{
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},
{
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},
{
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},
{
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}
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{
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]
},
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]
},
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}
],
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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},
{
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{
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},
{
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],
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{
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{
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{
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],
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},
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},
{
"alleleDefinitionVersion": "05/05/22",
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{
"name": "rs9923231 variant (T)/rs9923231 variant (T)",
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]
},
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},
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],
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],
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},
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"ignoredHaplotypes": []
}
],
"vcfWarnings": {
"chr8:18400593": [
"Invalid allelic depth (AD) field: 410,328,."
],
"chr8:18400806": [
"Invalid allelic depth (AD) field: 0,640,.,."
]
}
}
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