Mercurial > repos > bgruening > pharmcat

comparison test-data/test_2.json @ 0:d67642a21a1d draft

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"planemo upload for repository https://github.com/bgruening/galaxytools/tree/master/tools/pharmcat commit c6a098eb0cbfa87b0feaebf10ef6b24da659fa54"
author bgruening
date Fri, 28 Jan 2022 21:18:23 +0000
parents
children 891283e0ee89
comparison
equal deleted inserted replaced
-1:000000000000 0:d67642a21a1d
1 {
2 "metadata": {
3 "namedAlleleMatcherVersion": "1.0.0",
4 "genomeBuild": "GRCh38.p13",
5 "inputFilename": "input.vcf",
6 "timestamp": "Jan 27, 2022, 11:53:07 PM"
7 },
8 "results": [
9 {
10 "alleleDefinitionVersion": "01/10/22",
11 "chromosome": "chr1",
12 "gene": "CACNA1S",
13 "diplotypes": [
14 {
15 "name": "Reference/Reference",
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17 "name": "Reference",
18 "sequences": [
19 "201060815:C;201091993:G;"
20 ]
21 },
22 "haplotype2": {
23 "name": "Reference",
24 "sequences": [
25 "201060815:C;201091993:G;"
26 ]
27 },
28 "score": 4
29 }
30 ],
31 "haplotypes": [
32 {
33 "name": "Reference",
34 "sequences": [
35 "201060815:C;201091993:G;"
36 ]
37 }
38 ],
39 "phased": true,
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46 {
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49 "vcfCall": "G|G"
50 }
51 ],
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56 },
57 "uncallableHaplotypes": [],
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59 },
60 {
61 "alleleDefinitionVersion": "01/10/22",
62 "chromosome": "chr7",
63 "gene": "CFTR",
64 "diplotypes": [
65 {
66 "name": "ivacaftor non-responsive CFTR sequence/ivacaftor non-responsive CFTR sequence",
67 "haplotype1": {
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69 "sequences": [
70 "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;"
71 ]
72 },
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77 ]
78 },
79 "score": 78
80 }
81 ],
82 "haplotypes": [
83 {
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87 ]
88 }
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296 {
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307 ]
308 },
309 "haplotype2": {
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313 ]
314 },
315 "score": 70
316 }
317 ],
318 "haplotypes": [
319 {
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322 "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;"
323 ]
324 }
325 ],
326 "phased": true,
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332 },
333 {
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337 },
338 {
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340 "rsid": "rs8192709",
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342 },
343 {
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348 {
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352 },
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357 },
358 {
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363 {
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373 {
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378 {
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383 {
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388 {
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392 },
393 {
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397 },
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399 "position": 41004406,
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418 {
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438 {
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440 "rsid": "rs139029625",
441 "vcfCall": "G|G"
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443 {
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448 {
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457 },
458 {
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493 {
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498 {
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504 "variantsOfInterest": [],
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509 "uncallableHaplotypes": [],
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511 },
512 {
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515 "gene": "CYP2C19",
516 "diplotypes": [
517 {
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519 "haplotype1": {
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523 ]
524 },
525 "haplotype2": {
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529 ]
530 },
531 "score": 68
532 }
533 ],
534 "haplotypes": [
535 {
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537 "sequences": [
538 "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;"
539 ]
540 }
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549 {
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554 {
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559 {
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563 },
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568 },
569 {
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573 },
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614 {
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634 {
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637 "vcfCall": "G|G"
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648 },
649 {
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652 "vcfCall": "C|C"
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660 "position": 94781944,
661 "rsid": "rs375781227",
662 "vcfCall": "G|G"
663 },
664 {
665 "position": 94781999,
666 "rsid": "rs72558186",
667 "vcfCall": "T|T"
668 },
669 {
670 "position": 94842861,
671 "rsid": "rs138142612",
672 "vcfCall": "G|G"
673 },
674 {
675 "position": 94842866,
676 "rsid": "rs3758581",
677 "vcfCall": "A|A"
678 },
679 {
680 "position": 94842879,
681 "rsid": "rs118203757",
682 "vcfCall": "G|G"
683 },
684 {
685 "position": 94842995,
686 "rsid": "rs113934938",
687 "vcfCall": "G|G"
688 },
689 {
690 "position": 94849995,
691 "rsid": "rs17879685",
692 "vcfCall": "C|C"
693 },
694 {
695 "position": 94852738,
696 "rsid": "rs56337013",
697 "vcfCall": "C|C"
698 },
699 {
700 "position": 94852765,
701 "rsid": "rs192154563",
702 "vcfCall": "C|C"
703 },
704 {
705 "position": 94852785,
706 "rsid": "rs118203759",
707 "vcfCall": "C|C"
708 },
709 {
710 "position": 94852914,
711 "rsid": "rs55640102",
712 "vcfCall": "A|A"
713 }
714 ],
715 "variantsOfInterest": [],
716 "matchData": {
717 "missingPositions": [],
718 "mismatchedAlleles": []
719 },
720 "uncallableHaplotypes": [],
721 "ignoredHaplotypes": []
722 },
723 {
724 "alleleDefinitionVersion": "01/10/22",
725 "chromosome": "chr10",
726 "gene": "CYP2C9",
727 "diplotypes": [
728 {
729 "name": "*1/*1",
730 "haplotype1": {
731 "name": "*1",
732 "sequences": [
733 "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;"
734 ]
735 },
736 "haplotype2": {
737 "name": "*1",
738 "sequences": [
739 "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;"
740 ]
741 },
742 "score": 132
743 }
744 ],
745 "haplotypes": [
746 {
747 "name": "*1",
748 "sequences": [
749 "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;"
750 ]
751 }
752 ],
753 "phased": true,
754 "variants": [
755 {
756 "position": 94938683,
757 "rsid": "rs114071557",
758 "vcfCall": "A|A"
759 },
760 {
761 "position": 94938737,
762 "rsid": "rs67807361",
763 "vcfCall": "C|C"
764 },
765 {
766 "position": 94938771,
767 "rsid": "rs142240658",
768 "vcfCall": "C|C"
769 },
770 {
771 "position": 94938803,
772 "rsid": "rs2031308986",
773 "vcfCall": "A|A"
774 },
775 {
776 "position": 94938828,
777 "rsid": "rs564813580",
778 "vcfCall": "A|A"
779 },
780 {
781 "position": 94941897,
782 "rsid": "rs371055887",
783 "vcfCall": "G|G"
784 },
785 {
786 "position": 94941915,
787 "rsid": null,
788 "vcfCall": "G|G"
789 },
790 {
791 "position": 94941958,
792 "rsid": "rs72558187",
793 "vcfCall": "T|T"
794 },
795 {
796 "position": 94941976,
797 "rsid": null,
798 "vcfCall": "G|G"
799 },
800 {
801 "position": 94941982,
802 "rsid": "rs762239445",
803 "vcfCall": "G|G"
804 },
805 {
806 "position": 94942018,
807 "rsid": null,
808 "vcfCall": "T|T"
809 },
810 {
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812 "rsid": "rs1304490498",
813 "vcfCall": "CAATGGAAAGA|CAATGGAAAGA"
814 },
815 {
816 "position": 94942216,
817 "rsid": "rs774607211",
818 "vcfCall": "A|A"
819 },
820 {
821 "position": 94942230,
822 "rsid": "rs767576260",
823 "vcfCall": "C|C"
824 },
825 {
826 "position": 94942231,
827 "rsid": "rs12414460",
828 "vcfCall": "G|G"
829 },
830 {
831 "position": 94942233,
832 "rsid": "rs375805362",
833 "vcfCall": "C|C"
834 },
835 {
836 "position": 94942234,
837 "rsid": "rs72558189",
838 "vcfCall": "G|G"
839 },
840 {
841 "position": 94942249,
842 "rsid": "rs200965026",
843 "vcfCall": "C|C"
844 },
845 {
846 "position": 94942254,
847 "rsid": "rs199523631",
848 "vcfCall": "C|C"
849 },
850 {
851 "position": 94942255,
852 "rsid": "rs200183364",
853 "vcfCall": "G|G"
854 },
855 {
856 "position": 94942290,
857 "rsid": "rs1799853",
858 "vcfCall": "C|C"
859 },
860 {
861 "position": 94942291,
862 "rsid": "rs141489852",
863 "vcfCall": "G|G"
864 },
865 {
866 "position": 94942305,
867 "rsid": "rs754487195",
868 "vcfCall": "G|G"
869 },
870 {
871 "position": 94942309,
872 "rsid": "rs7900194",
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874 },
875 {
876 "position": 94947782,
877 "rsid": "rs72558190",
878 "vcfCall": "C|C"
879 },
880 {
881 "position": 94947785,
882 "rsid": "rs774550549",
883 "vcfCall": "C|C"
884 },
885 {
886 "position": 94947869,
887 "rsid": null,
888 "vcfCall": "A|A"
889 },
890 {
891 "position": 94947907,
892 "rsid": null,
893 "vcfCall": "A|A"
894 },
895 {
896 "position": 94947917,
897 "rsid": "rs1326630788",
898 "vcfCall": "T|T"
899 },
900 {
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902 "rsid": "rs2031531005",
903 "vcfCall": "A|A"
904 },
905 {
906 "position": 94949129,
907 "rsid": null,
908 "vcfCall": "A|A"
909 },
910 {
911 "position": 94949144,
912 "rsid": null,
913 "vcfCall": "C|C"
914 },
915 {
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917 "rsid": "rs2256871",
918 "vcfCall": "A|A"
919 },
920 {
921 "position": 94949280,
922 "rsid": "rs9332130",
923 "vcfCall": "A|A"
924 },
925 {
926 "position": 94949281,
927 "rsid": "rs9332131",
928 "vcfCall": "GA|GA"
929 },
930 {
931 "position": 94972119,
932 "rsid": "rs182132442",
933 "vcfCall": "C|C"
934 },
935 {
936 "position": 94972123,
937 "rsid": null,
938 "vcfCall": "C|C"
939 },
940 {
941 "position": 94972134,
942 "rsid": null,
943 "vcfCall": "A|A"
944 },
945 {
946 "position": 94972179,
947 "rsid": "rs72558192",
948 "vcfCall": "A|A"
949 },
950 {
951 "position": 94972180,
952 "rsid": "rs988617574",
953 "vcfCall": "C|C"
954 },
955 {
956 "position": 94972233,
957 "rsid": "rs1237225311",
958 "vcfCall": "C|C"
959 },
960 {
961 "position": 94981199,
962 "rsid": null,
963 "vcfCall": "G|G"
964 },
965 {
966 "position": 94981201,
967 "rsid": "rs57505750",
968 "vcfCall": "T|T"
969 },
970 {
971 "position": 94981224,
972 "rsid": "rs28371685",
973 "vcfCall": "C|C"
974 },
975 {
976 "position": 94981225,
977 "rsid": "rs367826293",
978 "vcfCall": "G|G"
979 },
980 {
981 "position": 94981230,
982 "rsid": "rs1274535931",
983 "vcfCall": "C|C"
984 },
985 {
986 "position": 94981250,
987 "rsid": "rs750820937",
988 "vcfCall": "C|C"
989 },
990 {
991 "position": 94981281,
992 "rsid": "rs749060448",
993 "vcfCall": "G|G"
994 },
995 {
996 "position": 94981296,
997 "rsid": "rs1057910",
998 "vcfCall": "A|A"
999 },
1000 {
1001 "position": 94981297,
1002 "rsid": "rs56165452",
1003 "vcfCall": "T|T"
1004 },
1005 {
1006 "position": 94981301,
1007 "rsid": "rs28371686",
1008 "vcfCall": "C|C"
1009 },
1010 {
1011 "position": 94981302,
1012 "rsid": "rs1250577724",
1013 "vcfCall": "C|C"
1014 },
1015 {
1016 "position": 94981305,
1017 "rsid": "rs578144976",
1018 "vcfCall": "C|C"
1019 },
1020 {
1021 "position": 94981365,
1022 "rsid": null,
1023 "vcfCall": "C|C"
1024 },
1025 {
1026 "position": 94981371,
1027 "rsid": "rs542577750",
1028 "vcfCall": "G|G"
1029 },
1030 {
1031 "position": 94986042,
1032 "rsid": "rs764211126",
1033 "vcfCall": "A|A"
1034 },
1035 {
1036 "position": 94986073,
1037 "rsid": "rs72558193",
1038 "vcfCall": "A|A"
1039 },
1040 {
1041 "position": 94988852,
1042 "rsid": "rs776908257",
1043 "vcfCall": "C|C"
1044 },
1045 {
1046 "position": 94988855,
1047 "rsid": null,
1048 "vcfCall": "A|A"
1049 },
1050 {
1051 "position": 94988880,
1052 "rsid": null,
1053 "vcfCall": "G|G"
1054 },
1055 {
1056 "position": 94988917,
1057 "rsid": "rs769942899",
1058 "vcfCall": "G|G"
1059 },
1060 {
1061 "position": 94988925,
1062 "rsid": "rs202201137",
1063 "vcfCall": "A|A"
1064 },
1065 {
1066 "position": 94988955,
1067 "rsid": "rs767284820",
1068 "vcfCall": "T|T"
1069 },
1070 {
1071 "position": 94988984,
1072 "rsid": "rs781583846",
1073 "vcfCall": "G|G"
1074 },
1075 {
1076 "position": 94989020,
1077 "rsid": "rs9332239",
1078 "vcfCall": "C|C"
1079 },
1080 {
1081 "position": 94989023,
1082 "rsid": "rs868182778",
1083 "vcfCall": "G|G"
1084 }
1085 ],
1086 "variantsOfInterest": [
1087 {
1088 "position": 94645745,
1089 "rsid": "rs12777823",
1090 "vcfCall": "G|G"
1091 }
1092 ],
1093 "matchData": {
1094 "missingPositions": [
1095 {
1096 "chromosome": "chr10",
1097 "position": 94942306,
1098 "cpicPosition": 94942306,
1099 "rsid": "rs1289704600",
1100 "chromosomeHgvsName": "g.94942306C\u003eT",
1101 "cpicAlleles": [
1102 "C",
1103 "T"
1104 ],
1105 "cpicToVcfAlleleMap": {
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1107 "T": "T"
1108 },
1109 "ref": "C",
1110 "alts": [
1111 "T"
1112 ]
1113 },
1114 {
1115 "chromosome": "chr10",
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1117 "cpicPosition": 94942308,
1118 "rsid": "rs17847037",
1119 "chromosomeHgvsName": "g.94942308C\u003eT",
1120 "cpicAlleles": [
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1122 "T"
1123 ],
1124 "cpicToVcfAlleleMap": {
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1126 "T": "T"
1127 },
1128 "ref": "C",
1129 "alts": [
1130 "T"
1131 ]
1132 },
1133 {
1134 "chromosome": "chr10",
1135 "position": 94947439,
1136 "cpicPosition": 94947439,
1137 "rsid": null,
1138 "chromosomeHgvsName": "g.94947439G\u003eT",
1139 "cpicAlleles": [
1140 "G",
1141 "T"
1142 ],
1143 "cpicToVcfAlleleMap": {
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1145 "G": "G"
1146 },
1147 "ref": "G",
1148 "alts": [
1149 "T"
1150 ]
1151 },
1152 {
1153 "chromosome": "chr10",
1154 "position": 94986136,
1155 "cpicPosition": 94986136,
1156 "rsid": "rs1254213342",
1157 "chromosomeHgvsName": "g.94986136A\u003eC",
1158 "cpicAlleles": [
1159 "A",
1160 "C"
1161 ],
1162 "cpicToVcfAlleleMap": {
1163 "A": "A",
1164 "C": "C"
1165 },
1166 "ref": "A",
1167 "alts": [
1168 "C"
1169 ]
1170 }
1171 ],
1172 "mismatchedAlleles": []
1173 },
1174 "uncallableHaplotypes": [
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1176 "*73",
1177 "*74",
1178 "*75"
1179 ],
1180 "ignoredHaplotypes": []
1181 },
1182 {
1183 "alleleDefinitionVersion": "01/10/22",
1184 "chromosome": "chr7",
1185 "gene": "CYP3A5",
1186 "diplotypes": [
1187 {
1188 "name": "*1/*1",
1189 "haplotype1": {
1190 "name": "*1",
1191 "sequences": [
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1193 ]
1194 },
1195 "haplotype2": {
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1197 "sequences": [
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1199 ]
1200 },
1201 "score": 16
1202 }
1203 ],
1204 "haplotypes": [
1205 {
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1207 "sequences": [
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1209 ]
1210 }
1211 ],
1212 "phased": true,
1213 "variants": [
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1216 "rsid": "rs28365083",
1217 "vcfCall": "G|G"
1218 },
1219 {
1220 "position": 99652770,
1221 "rsid": "rs41303343",
1222 "vcfCall": "T|T"
1223 },
1224 {
1225 "position": 99660516,
1226 "rsid": "rs28383479",
1227 "vcfCall": "C|C"
1228 },
1229 {
1230 "position": 99665212,
1231 "rsid": "rs10264272",
1232 "vcfCall": "C|C"
1233 },
1234 {
1235 "position": 99665237,
1236 "rsid": "rs56411402",
1237 "vcfCall": "T|T"
1238 },
1239 {
1240 "position": 99666950,
1241 "rsid": "rs55965422",
1242 "vcfCall": "A|A"
1243 },
1244 {
1245 "position": 99672916,
1246 "rsid": "rs776746",
1247 "vcfCall": "T|T"
1248 },
1249 {
1250 "position": 99676198,
1251 "rsid": "rs55817950",
1252 "vcfCall": "G|G"
1253 }
1254 ],
1255 "variantsOfInterest": [],
1256 "matchData": {
1257 "missingPositions": [],
1258 "mismatchedAlleles": []
1259 },
1260 "uncallableHaplotypes": [],
1261 "ignoredHaplotypes": []
1262 },
1263 {
1264 "alleleDefinitionVersion": "01/10/22",
1265 "chromosome": "chr19",
1266 "gene": "CYP4F2",
1267 "diplotypes": [
1268 {
1269 "name": "*1/*1",
1270 "haplotype1": {
1271 "name": "*1",
1272 "sequences": [
1273 "15879621:C;15897578:A;"
1274 ]
1275 },
1276 "haplotype2": {
1277 "name": "*1",
1278 "sequences": [
1279 "15879621:C;15897578:A;"
1280 ]
1281 },
1282 "score": 4
1283 }
1284 ],
1285 "haplotypes": [
1286 {
1287 "name": "*1",
1288 "sequences": [
1289 "15879621:C;15897578:A;"
1290 ]
1291 }
1292 ],
1293 "phased": true,
1294 "variants": [
1295 {
1296 "position": 15879621,
1297 "rsid": "rs2108622",
1298 "vcfCall": "C|C"
1299 },
1300 {
1301 "position": 15897578,
1302 "rsid": "rs3093105",
1303 "vcfCall": "A|A"
1304 }
1305 ],
1306 "variantsOfInterest": [],
1307 "matchData": {
1308 "missingPositions": [],
1309 "mismatchedAlleles": []
1310 },
1311 "uncallableHaplotypes": [],
1312 "ignoredHaplotypes": []
1313 },
1314 {
1315 "alleleDefinitionVersion": "01/10/22",
1316 "chromosome": "chr1",
1317 "gene": "DPYD",
1318 "diplotypes": [
1319 {
1320 "name": "Reference/Reference",
1321 "haplotype1": {
1322 "name": "Reference",
1323 "sequences": [
1324 "97078987:G;97078993:C;97079005:C;97079071:C;97079076:A;97079077:G;97079121:T;97079133:T;97079139:T;97082365:T;97082391:T;97098598:C;97098599:G;97098616:C;97098632:T;97193109:T;97193209:C;97234958:G;97234991:G;97305279:G;97305363:A;97305364:C;97305372:G;97306195:C;97373598:C;97373629:C;97382461:T;97450058:C;97450059:G;97450065:TG;97450068:A;97450168:A;97450187:C;97450189:C;97450190:G;97515784:C;97515787:A;97515839:T;97515851:C;97515865:C;97515889:G;97515923:C;97549565:C;97549600:T;97549609:G;97549681:G;97549713:G;97549726:G;97549735:G;97573785:A;97573805:C;97573821:C;97573839:A;97573863:C;97573881:C;97573918:C;97573919:G;97573943:C;97579893:G;97593238:T;97593289:G;97593322:C;97593343:C;97593379:C;97595083:G;97595088:A;97595149:T;97679170:T;97691776:G;97699399:T;97699430:T;97699474:T;97699506:C;97699533:C;97699535:T;97721542:T;97721650:T;97740400:C;97740410:GATGA;97883329:A;97883352:C;97883353:G;97883368:G;"
1325 ]
1326 },
1327 "haplotype2": {
1328 "name": "Reference",
1329 "sequences": [
1330 "97078987:G;97078993:C;97079005:C;97079071:C;97079076:A;97079077:G;97079121:T;97079133:T;97079139:T;97082365:T;97082391:T;97098598:C;97098599:G;97098616:C;97098632:T;97193109:T;97193209:C;97234958:G;97234991:G;97305279:G;97305363:A;97305364:C;97305372:G;97306195:C;97373598:C;97373629:C;97382461:T;97450058:C;97450059:G;97450065:TG;97450068:A;97450168:A;97450187:C;97450189:C;97450190:G;97515784:C;97515787:A;97515839:T;97515851:C;97515865:C;97515889:G;97515923:C;97549565:C;97549600:T;97549609:G;97549681:G;97549713:G;97549726:G;97549735:G;97573785:A;97573805:C;97573821:C;97573839:A;97573863:C;97573881:C;97573918:C;97573919:G;97573943:C;97579893:G;97593238:T;97593289:G;97593322:C;97593343:C;97593379:C;97595083:G;97595088:A;97595149:T;97679170:T;97691776:G;97699399:T;97699430:T;97699474:T;97699506:C;97699533:C;97699535:T;97721542:T;97721650:T;97740400:C;97740410:GATGA;97883329:A;97883352:C;97883353:G;97883368:G;"
1331 ]
1332 },
1333 "score": 166
1334 }
1335 ],
1336 "haplotypes": [
1337 {
1338 "name": "Reference",
1339 "sequences": [
1340 "97078987:G;97078993:C;97079005:C;97079071:C;97079076:A;97079077:G;97079121:T;97079133:T;97079139:T;97082365:T;97082391:T;97098598:C;97098599:G;97098616:C;97098632:T;97193109:T;97193209:C;97234958:G;97234991:G;97305279:G;97305363:A;97305364:C;97305372:G;97306195:C;97373598:C;97373629:C;97382461:T;97450058:C;97450059:G;97450065:TG;97450068:A;97450168:A;97450187:C;97450189:C;97450190:G;97515784:C;97515787:A;97515839:T;97515851:C;97515865:C;97515889:G;97515923:C;97549565:C;97549600:T;97549609:G;97549681:G;97549713:G;97549726:G;97549735:G;97573785:A;97573805:C;97573821:C;97573839:A;97573863:C;97573881:C;97573918:C;97573919:G;97573943:C;97579893:G;97593238:T;97593289:G;97593322:C;97593343:C;97593379:C;97595083:G;97595088:A;97595149:T;97679170:T;97691776:G;97699399:T;97699430:T;97699474:T;97699506:C;97699533:C;97699535:T;97721542:T;97721650:T;97740400:C;97740410:GATGA;97883329:A;97883352:C;97883353:G;97883368:G;"
1341 ]
1342 }
1343 ],
1344 "phased": true,
1345 "variants": [
1346 {
1347 "position": 97078987,
1348 "rsid": "rs114096998",
1349 "vcfCall": "G|G"
1350 },
1351 {
1352 "position": 97078993,
1353 "rsid": "rs148799944",
1354 "vcfCall": "C|C"
1355 },
1356 {
1357 "position": 97079005,
1358 "rsid": "rs140114515",
1359 "vcfCall": "C|C"
1360 },
1361 {
1362 "position": 97079071,
1363 "rsid": "rs1801268",
1364 "vcfCall": "C|C"
1365 },
1366 {
1367 "position": 97079076,
1368 "rsid": "rs139459586",
1369 "vcfCall": "A|A"
1370 },
1371 {
1372 "position": 97079077,
1373 "rsid": "rs202144771",
1374 "vcfCall": "G|G"
1375 },
1376 {
1377 "position": 97079121,
1378 "rsid": "rs72547601",
1379 "vcfCall": "T|T"
1380 },
1381 {
1382 "position": 97079133,
1383 "rsid": "rs72547602",
1384 "vcfCall": "T|T"
1385 },
1386 {
1387 "position": 97079139,
1388 "rsid": "rs145529148",
1389 "vcfCall": "T|T"
1390 },
1391 {
1392 "position": 97082365,
1393 "rsid": "rs141044036",
1394 "vcfCall": "T|T"
1395 },
1396 {
1397 "position": 97082391,
1398 "rsid": "rs67376798",
1399 "vcfCall": "T|T"
1400 },
1401 {
1402 "position": 97098598,
1403 "rsid": "rs1801267",
1404 "vcfCall": "C|C"
1405 },
1406 {
1407 "position": 97098599,
1408 "rsid": "rs147545709",
1409 "vcfCall": "G|G"
1410 },
1411 {
1412 "position": 97098616,
1413 "rsid": "rs55674432",
1414 "vcfCall": "C|C"
1415 },
1416 {
1417 "position": 97098632,
1418 "rsid": "rs201035051",
1419 "vcfCall": "T|T"
1420 },
1421 {
1422 "position": 97193109,
1423 "rsid": "rs60139309",
1424 "vcfCall": "T|T"
1425 },
1426 {
1427 "position": 97193209,
1428 "rsid": "rs200687447",
1429 "vcfCall": "C|C"
1430 },
1431 {
1432 "position": 97234958,
1433 "rsid": "rs199634007",
1434 "vcfCall": "G|G"
1435 },
1436 {
1437 "position": 97234991,
1438 "rsid": "rs56005131",
1439 "vcfCall": "G|G"
1440 },
1441 {
1442 "position": 97305279,
1443 "rsid": "rs112766203",
1444 "vcfCall": "G|G"
1445 },
1446 {
1447 "position": 97305363,
1448 "rsid": "rs60511679",
1449 "vcfCall": "A|A"
1450 },
1451 {
1452 "position": 97305364,
1453 "rsid": "rs1801160",
1454 "vcfCall": "C|C"
1455 },
1456 {
1457 "position": 97305372,
1458 "rsid": "rs146529561",
1459 "vcfCall": "G|G"
1460 },
1461 {
1462 "position": 97306195,
1463 "rsid": "rs145548112",
1464 "vcfCall": "C|C"
1465 },
1466 {
1467 "position": 97373598,
1468 "rsid": "rs137999090",
1469 "vcfCall": "C|C"
1470 },
1471 {
1472 "position": 97373629,
1473 "rsid": "rs138545885",
1474 "vcfCall": "C|C"
1475 },
1476 {
1477 "position": 97382461,
1478 "rsid": "rs55971861",
1479 "vcfCall": "T|T"
1480 },
1481 {
1482 "position": 97450058,
1483 "rsid": "rs3918290",
1484 "vcfCall": "C|C"
1485 },
1486 {
1487 "position": 97450059,
1488 "rsid": "rs3918289",
1489 "vcfCall": "G|G"
1490 },
1491 {
1492 "position": 97450065,
1493 "rsid": "rs72549303",
1494 "vcfCall": "TG|TG"
1495 },
1496 {
1497 "position": 97450068,
1498 "rsid": "rs17376848",
1499 "vcfCall": "A|A"
1500 },
1501 {
1502 "position": 97450168,
1503 "rsid": "rs147601618",
1504 "vcfCall": "A|A"
1505 },
1506 {
1507 "position": 97450187,
1508 "rsid": "rs145773863",
1509 "vcfCall": "C|C"
1510 },
1511 {
1512 "position": 97450189,
1513 "rsid": "rs138616379",
1514 "vcfCall": "C|C"
1515 },
1516 {
1517 "position": 97450190,
1518 "rsid": "rs59086055",
1519 "vcfCall": "G|G"
1520 },
1521 {
1522 "position": 97515784,
1523 "rsid": "rs201615754",
1524 "vcfCall": "C|C"
1525 },
1526 {
1527 "position": 97515787,
1528 "rsid": "rs55886062",
1529 "vcfCall": "A|A"
1530 },
1531 {
1532 "position": 97515839,
1533 "rsid": "rs1801159",
1534 "vcfCall": "T|T"
1535 },
1536 {
1537 "position": 97515851,
1538 "rsid": "rs142619737",
1539 "vcfCall": "C|C"
1540 },
1541 {
1542 "position": 97515865,
1543 "rsid": "rs1801158",
1544 "vcfCall": "C|C"
1545 },
1546 {
1547 "position": 97515889,
1548 "rsid": "rs190951787",
1549 "vcfCall": "G|G"
1550 },
1551 {
1552 "position": 97515923,
1553 "rsid": "rs148994843",
1554 "vcfCall": "C|C"
1555 },
1556 {
1557 "position": 97549565,
1558 "rsid": "rs138391898",
1559 "vcfCall": "C|C"
1560 },
1561 {
1562 "position": 97549600,
1563 "rsid": "rs111858276",
1564 "vcfCall": "T|T"
1565 },
1566 {
1567 "position": 97549609,
1568 "rsid": "rs72549304",
1569 "vcfCall": "G|G"
1570 },
1571 {
1572 "position": 97549681,
1573 "rsid": "rs199549923",
1574 "vcfCall": "G|G"
1575 },
1576 {
1577 "position": 97549713,
1578 "rsid": "rs57918000",
1579 "vcfCall": "G|G"
1580 },
1581 {
1582 "position": 97549726,
1583 "rsid": "rs144395748",
1584 "vcfCall": "G|G"
1585 },
1586 {
1587 "position": 97549735,
1588 "rsid": "rs72975710",
1589 "vcfCall": "G|G"
1590 },
1591 {
1592 "position": 97573785,
1593 "rsid": "rs186169810",
1594 "vcfCall": "A|A"
1595 },
1596 {
1597 "position": 97573805,
1598 "rsid": "rs142512579",
1599 "vcfCall": "C|C"
1600 },
1601 {
1602 "position": 97573821,
1603 "rsid": "rs764666241",
1604 "vcfCall": "C|C"
1605 },
1606 {
1607 "position": 97573839,
1608 "rsid": "rs200064537",
1609 "vcfCall": "A|A"
1610 },
1611 {
1612 "position": 97573863,
1613 "rsid": "rs56038477",
1614 "vcfCall": "C|C"
1615 },
1616 {
1617 "position": 97573881,
1618 "rsid": "rs61622928",
1619 "vcfCall": "C|C"
1620 },
1621 {
1622 "position": 97573918,
1623 "rsid": "rs143815742",
1624 "vcfCall": "C|C"
1625 },
1626 {
1627 "position": 97573919,
1628 "rsid": "rs140602333",
1629 "vcfCall": "G|G"
1630 },
1631 {
1632 "position": 97573943,
1633 "rsid": "rs78060119",
1634 "vcfCall": "C|C"
1635 },
1636 {
1637 "position": 97579893,
1638 "rsid": "rs75017182",
1639 "vcfCall": "G|G"
1640 },
1641 {
1642 "position": 97593238,
1643 "rsid": "rs72549305",
1644 "vcfCall": "T|T"
1645 },
1646 {
1647 "position": 97593289,
1648 "rsid": "rs143154602",
1649 "vcfCall": "G|G"
1650 },
1651 {
1652 "position": 97593322,
1653 "rsid": "rs183385770",
1654 "vcfCall": "C|C"
1655 },
1656 {
1657 "position": 97593343,
1658 "rsid": "rs72549306",
1659 "vcfCall": "C|C"
1660 },
1661 {
1662 "position": 97593379,
1663 "rsid": "rs201018345",
1664 "vcfCall": "C|C"
1665 },
1666 {
1667 "position": 97595083,
1668 "rsid": "rs145112791",
1669 "vcfCall": "G|G"
1670 },
1671 {
1672 "position": 97595088,
1673 "rsid": "rs150437414",
1674 "vcfCall": "A|A"
1675 },
1676 {
1677 "position": 97595149,
1678 "rsid": "rs146356975",
1679 "vcfCall": "T|T"
1680 },
1681 {
1682 "position": 97679170,
1683 "rsid": "rs45589337",
1684 "vcfCall": "T|T"
1685 },
1686 {
1687 "position": 97691776,
1688 "rsid": "rs1801266",
1689 "vcfCall": "G|G"
1690 },
1691 {
1692 "position": 97699399,
1693 "rsid": "rs72549307",
1694 "vcfCall": "T|T"
1695 },
1696 {
1697 "position": 97699430,
1698 "rsid": "rs72549308",
1699 "vcfCall": "T|T"
1700 },
1701 {
1702 "position": 97699474,
1703 "rsid": "rs115232898",
1704 "vcfCall": "T|T"
1705 },
1706 {
1707 "position": 97699506,
1708 "rsid": "rs6670886",
1709 "vcfCall": "C|C"
1710 },
1711 {
1712 "position": 97699533,
1713 "rsid": "rs139834141",
1714 "vcfCall": "C|C"
1715 },
1716 {
1717 "position": 97699535,
1718 "rsid": "rs2297595",
1719 "vcfCall": "T|T"
1720 },
1721 {
1722 "position": 97721542,
1723 "rsid": "rs200562975",
1724 "vcfCall": "T|T"
1725 },
1726 {
1727 "position": 97721650,
1728 "rsid": "rs141462178",
1729 "vcfCall": "T|T"
1730 },
1731 {
1732 "position": 97740400,
1733 "rsid": "rs150385342",
1734 "vcfCall": "C|C"
1735 },
1736 {
1737 "position": 97740410,
1738 "rsid": "rs72549309",
1739 "vcfCall": "GATGA|GATGA"
1740 },
1741 {
1742 "position": 97883329,
1743 "rsid": "rs1801265",
1744 "vcfCall": "A|A"
1745 },
1746 {
1747 "position": 97883352,
1748 "rsid": "rs80081766",
1749 "vcfCall": "C|C"
1750 },
1751 {
1752 "position": 97883353,
1753 "rsid": "rs72549310",
1754 "vcfCall": "G|G"
1755 },
1756 {
1757 "position": 97883368,
1758 "rsid": "rs150036960",
1759 "vcfCall": "G|G"
1760 }
1761 ],
1762 "variantsOfInterest": [],
1763 "matchData": {
1764 "missingPositions": [],
1765 "mismatchedAlleles": []
1766 },
1767 "uncallableHaplotypes": [],
1768 "ignoredHaplotypes": []
1769 },
1770 {
1771 "alleleDefinitionVersion": "01/10/22",
1772 "chromosome": "chr19",
1773 "gene": "IFNL3",
1774 "diplotypes": [
1775 {
1776 "name": "rs12979860 reference (C)/rs12979860 reference (C)",
1777 "haplotype1": {
1778 "name": "rs12979860 reference (C)",
1779 "sequences": [
1780 "39248147:C;"
1781 ]
1782 },
1783 "haplotype2": {
1784 "name": "rs12979860 reference (C)",
1785 "sequences": [
1786 "39248147:C;"
1787 ]
1788 },
1789 "score": 2
1790 }
1791 ],
1792 "haplotypes": [
1793 {
1794 "name": "rs12979860 reference (C)",
1795 "sequences": [
1796 "39248147:C;"
1797 ]
1798 }
1799 ],
1800 "phased": true,
1801 "variants": [
1802 {
1803 "position": 39248147,
1804 "rsid": "rs12979860",
1805 "vcfCall": "C|C"
1806 }
1807 ],
1808 "variantsOfInterest": [],
1809 "matchData": {
1810 "missingPositions": [],
1811 "mismatchedAlleles": []
1812 },
1813 "uncallableHaplotypes": [],
1814 "ignoredHaplotypes": []
1815 },
1816 {
1817 "alleleDefinitionVersion": "01/10/22",
1818 "chromosome": "chr13",
1819 "gene": "NUDT15",
1820 "diplotypes": [
1821 {
1822 "name": "*1/*1",
1823 "haplotype1": {
1824 "name": "*1",
1825 "sequences": [
1826 "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;"
1827 ]
1828 },
1829 "haplotype2": {
1830 "name": "*1",
1831 "sequences": [
1832 "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;"
1833 ]
1834 },
1835 "score": 34
1836 }
1837 ],
1838 "haplotypes": [
1839 {
1840 "name": "*1",
1841 "sequences": [
1842 "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;"
1843 ]
1844 }
1845 ],
1846 "phased": true,
1847 "variants": [
1848 {
1849 "position": 48037748,
1850 "rsid": "rs769369441",
1851 "vcfCall": "T|T"
1852 },
1853 {
1854 "position": 48037749,
1855 "rsid": null,
1856 "vcfCall": "G|G"
1857 },
1858 {
1859 "position": 48037782,
1860 "rsid": "rs746071566",
1861 "vcfCall": "AGGAGTC|AGGAGTC"
1862 },
1863 {
1864 "position": 48037798,
1865 "rsid": "rs186364861",
1866 "vcfCall": "G|G"
1867 },
1868 {
1869 "position": 48037825,
1870 "rsid": "rs777311140",
1871 "vcfCall": "C|C"
1872 },
1873 {
1874 "position": 48037834,
1875 "rsid": "rs1202487323",
1876 "vcfCall": "C|C"
1877 },
1878 {
1879 "position": 48037847,
1880 "rsid": "rs766023281",
1881 "vcfCall": "G|G"
1882 },
1883 {
1884 "position": 48037849,
1885 "rsid": null,
1886 "vcfCall": "A|A"
1887 },
1888 {
1889 "position": 48037885,
1890 "rsid": "rs1950545307",
1891 "vcfCall": "G|G"
1892 },
1893 {
1894 "position": 48037902,
1895 "rsid": "rs149436418",
1896 "vcfCall": "C|C"
1897 },
1898 {
1899 "position": 48040977,
1900 "rsid": "rs1457579126",
1901 "vcfCall": "GA|GA"
1902 },
1903 {
1904 "position": 48041103,
1905 "rsid": "rs761191455",
1906 "vcfCall": "T|T"
1907 },
1908 {
1909 "position": 48041113,
1910 "rsid": "rs1368252918",
1911 "vcfCall": "G|G"
1912 },
1913 {
1914 "position": 48045690,
1915 "rsid": "rs768324690",
1916 "vcfCall": "C|C"
1917 },
1918 {
1919 "position": 48045719,
1920 "rsid": "rs116855232",
1921 "vcfCall": "C|C"
1922 },
1923 {
1924 "position": 48045720,
1925 "rsid": "rs147390019",
1926 "vcfCall": "G|G"
1927 },
1928 {
1929 "position": 48045771,
1930 "rsid": "rs139551410",
1931 "vcfCall": "T|T"
1932 }
1933 ],
1934 "variantsOfInterest": [],
1935 "matchData": {
1936 "missingPositions": [],
1937 "mismatchedAlleles": []
1938 },
1939 "uncallableHaplotypes": [],
1940 "ignoredHaplotypes": []
1941 },
1942 {
1943 "alleleDefinitionVersion": "01/10/22",
1944 "chromosome": "chr19",
1945 "gene": "RYR1",
1946 "diplotypes": [
1947 {
1948 "name": "Reference/Reference",
1949 "haplotype1": {
1950 "name": "Reference",
1951 "sequences": [
1952 "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;"
1953 ]
1954 },
1955 "haplotype2": {
1956 "name": "Reference",
1957 "sequences": [
1958 "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;"
1959 ]
1960 },
1961 "score": 88
1962 }
1963 ],
1964 "haplotypes": [
1965 {
1966 "name": "Reference",
1967 "sequences": [
1968 "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;"
1969 ]
1970 }
1971 ],
1972 "phased": true,
1973 "variants": [
1974 {
1975 "position": 38440802,
1976 "rsid": "rs193922747",
1977 "vcfCall": "T|T"
1978 },
1979 {
1980 "position": 38440829,
1981 "rsid": "rs193922748",
1982 "vcfCall": "C|C"
1983 },
1984 {
1985 "position": 38444211,
1986 "rsid": "rs118192161",
1987 "vcfCall": "C|C"
1988 },
1989 {
1990 "position": 38444212,
1991 "rsid": "rs193922753",
1992 "vcfCall": "G|G"
1993 },
1994 {
1995 "position": 38446710,
1996 "rsid": "rs1801086",
1997 "vcfCall": "G|G"
1998 },
1999 {
2000 "position": 38448673,
2001 "rsid": "rs193922762",
2002 "vcfCall": "C|C"
2003 },
2004 {
2005 "position": 38448712,
2006 "rsid": "rs121918592",
2007 "vcfCall": "G|G"
2008 },
2009 {
2010 "position": 38451842,
2011 "rsid": "rs193922764",
2012 "vcfCall": "C|C"
2013 },
2014 {
2015 "position": 38451850,
2016 "rsid": "rs118192116",
2017 "vcfCall": "C|C"
2018 },
2019 {
2020 "position": 38455359,
2021 "rsid": "rs118192162",
2022 "vcfCall": "A|A"
2023 },
2024 {
2025 "position": 38455463,
2026 "rsid": "rs111888148",
2027 "vcfCall": "G|G"
2028 },
2029 {
2030 "position": 38455471,
2031 "rsid": "rs193922768",
2032 "vcfCall": "C|C"
2033 },
2034 {
2035 "position": 38455472,
2036 "rsid": "rs144336148",
2037 "vcfCall": "G|G"
2038 },
2039 {
2040 "position": 38455528,
2041 "rsid": "rs193922770",
2042 "vcfCall": "C|C"
2043 },
2044 {
2045 "position": 38457545,
2046 "rsid": "rs118192172",
2047 "vcfCall": "C|C"
2048 },
2049 {
2050 "position": 38457546,
2051 "rsid": "rs193922772",
2052 "vcfCall": "G|G"
2053 },
2054 {
2055 "position": 38494564,
2056 "rsid": "rs118192175",
2057 "vcfCall": "C|C"
2058 },
2059 {
2060 "position": 38494565,
2061 "rsid": "rs118192163",
2062 "vcfCall": "G|G"
2063 },
2064 {
2065 "position": 38494579,
2066 "rsid": "rs118192176",
2067 "vcfCall": "G|G"
2068 },
2069 {
2070 "position": 38496283,
2071 "rsid": "rs118192177",
2072 "vcfCall": "C|C"
2073 },
2074 {
2075 "position": 38499223,
2076 "rsid": "rs112563513",
2077 "vcfCall": "G|G"
2078 },
2079 {
2080 "position": 38499644,
2081 "rsid": "rs121918596",
2082 "vcfCall": "TGGA|TGGA"
2083 },
2084 {
2085 "position": 38499655,
2086 "rsid": "rs193922802",
2087 "vcfCall": "G|G"
2088 },
2089 {
2090 "position": 38499670,
2091 "rsid": "rs193922803",
2092 "vcfCall": "C|C"
2093 },
2094 {
2095 "position": 38499731,
2096 "rsid": "rs193922807",
2097 "vcfCall": "G|G"
2098 },
2099 {
2100 "position": 38499975,
2101 "rsid": "rs193922809",
2102 "vcfCall": "G|G"
2103 },
2104 {
2105 "position": 38499993,
2106 "rsid": "rs121918593",
2107 "vcfCall": "G|G"
2108 },
2109 {
2110 "position": 38499997,
2111 "rsid": "rs28933396",
2112 "vcfCall": "G|G"
2113 },
2114 {
2115 "position": 38500636,
2116 "rsid": "rs118192124",
2117 "vcfCall": "C|C"
2118 },
2119 {
2120 "position": 38500642,
2121 "rsid": "rs193922816",
2122 "vcfCall": "C|C"
2123 },
2124 {
2125 "position": 38500643,
2126 "rsid": "rs118192122",
2127 "vcfCall": "G|G"
2128 },
2129 {
2130 "position": 38500654,
2131 "rsid": "rs28933397",
2132 "vcfCall": "C|C"
2133 },
2134 {
2135 "position": 38500655,
2136 "rsid": "rs121918594",
2137 "vcfCall": "G|G"
2138 },
2139 {
2140 "position": 38500898,
2141 "rsid": "rs118192178",
2142 "vcfCall": "C|C"
2143 },
2144 {
2145 "position": 38500899,
2146 "rsid": "rs193922818",
2147 "vcfCall": "G|G"
2148 },
2149 {
2150 "position": 38512321,
2151 "rsid": "rs193922832",
2152 "vcfCall": "G|G"
2153 },
2154 {
2155 "position": 38543832,
2156 "rsid": "rs193922843",
2157 "vcfCall": "G|G"
2158 },
2159 {
2160 "position": 38580004,
2161 "rsid": "rs118192167",
2162 "vcfCall": "A|A"
2163 },
2164 {
2165 "position": 38580094,
2166 "rsid": "rs121918595",
2167 "vcfCall": "C|C"
2168 },
2169 {
2170 "position": 38580114,
2171 "rsid": "rs193922876",
2172 "vcfCall": "C|C"
2173 },
2174 {
2175 "position": 38580370,
2176 "rsid": "rs193922878",
2177 "vcfCall": "C|C"
2178 },
2179 {
2180 "position": 38580403,
2181 "rsid": "rs118192168",
2182 "vcfCall": "G|G"
2183 },
2184 {
2185 "position": 38580440,
2186 "rsid": "rs63749869",
2187 "vcfCall": "G|G"
2188 },
2189 {
2190 "position": 38584989,
2191 "rsid": "rs118192170",
2192 "vcfCall": "T|T"
2193 }
2194 ],
2195 "variantsOfInterest": [],
2196 "matchData": {
2197 "missingPositions": [],
2198 "mismatchedAlleles": []
2199 },
2200 "uncallableHaplotypes": [],
2201 "ignoredHaplotypes": []
2202 },
2203 {
2204 "alleleDefinitionVersion": "01/10/22",
2205 "chromosome": "chr12",
2206 "gene": "SLCO1B1",
2207 "diplotypes": [
2208 {
2209 "name": "*1/*1",
2210 "haplotype1": {
2211 "name": "*1",
2212 "sequences": [
2213 "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;"
2214 ]
2215 },
2216 "haplotype2": {
2217 "name": "*1",
2218 "sequences": [
2219 "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;"
2220 ]
2221 },
2222 "score": 48
2223 }
2224 ],
2225 "haplotypes": [
2226 {
2227 "name": "*1",
2228 "sequences": [
2229 "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;"
2230 ]
2231 }
2232 ],
2233 "phased": true,
2234 "variants": [
2235 {
2236 "position": 21172734,
2237 "rsid": "rs139257324",
2238 "vcfCall": "C|C"
2239 },
2240 {
2241 "position": 21172776,
2242 "rsid": "rs373327528",
2243 "vcfCall": "G|G"
2244 },
2245 {
2246 "position": 21172782,
2247 "rsid": "rs56101265",
2248 "vcfCall": "T|T"
2249 },
2250 {
2251 "position": 21174595,
2252 "rsid": "rs56061388",
2253 "vcfCall": "T|T"
2254 },
2255 {
2256 "position": 21176804,
2257 "rsid": "rs2306283",
2258 "vcfCall": "A|A"
2259 },
2260 {
2261 "position": 21176868,
2262 "rsid": "rs2306282",
2263 "vcfCall": "A|A"
2264 },
2265 {
2266 "position": 21176879,
2267 "rsid": "rs11045819",
2268 "vcfCall": "C|C"
2269 },
2270 {
2271 "position": 21176883,
2272 "rsid": "rs72559745",
2273 "vcfCall": "A|A"
2274 },
2275 {
2276 "position": 21178615,
2277 "rsid": "rs4149056",
2278 "vcfCall": "T|T"
2279 },
2280 {
2281 "position": 21178957,
2282 "rsid": "rs79135870",
2283 "vcfCall": "A|A"
2284 },
2285 {
2286 "position": 21196951,
2287 "rsid": "rs11045852",
2288 "vcfCall": "A|A"
2289 },
2290 {
2291 "position": 21196976,
2292 "rsid": "rs11045853",
2293 "vcfCall": "G|G"
2294 },
2295 {
2296 "position": 21200595,
2297 "rsid": "rs55901008",
2298 "vcfCall": "T|T"
2299 },
2300 {
2301 "position": 21202553,
2302 "rsid": "rs1228465562",
2303 "vcfCall": "T|T"
2304 },
2305 {
2306 "position": 21202555,
2307 "rsid": "rs59113707",
2308 "vcfCall": "C|C"
2309 },
2310 {
2311 "position": 21202649,
2312 "rsid": "rs56387224",
2313 "vcfCall": "A|A"
2314 },
2315 {
2316 "position": 21202664,
2317 "rsid": "rs142965323",
2318 "vcfCall": "G|G"
2319 },
2320 {
2321 "position": 21205921,
2322 "rsid": "rs72559748",
2323 "vcfCall": "A|A"
2324 },
2325 {
2326 "position": 21205999,
2327 "rsid": "rs59502379",
2328 "vcfCall": "G|G"
2329 },
2330 {
2331 "position": 21239042,
2332 "rsid": "rs34671512",
2333 "vcfCall": "A|A"
2334 },
2335 {
2336 "position": 21239077,
2337 "rsid": "rs56199088",
2338 "vcfCall": "A|A"
2339 },
2340 {
2341 "position": 21239113,
2342 "rsid": "rs55737008",
2343 "vcfCall": "A|A"
2344 },
2345 {
2346 "position": 21239145,
2347 "rsid": "rs200995543",
2348 "vcfCall": "C|C"
2349 },
2350 {
2351 "position": 21239158,
2352 "rsid": "rs140790673",
2353 "vcfCall": "C|C"
2354 }
2355 ],
2356 "variantsOfInterest": [],
2357 "matchData": {
2358 "missingPositions": [
2359 {
2360 "chromosome": "chr12",
2361 "position": 21176871,
2362 "cpicPosition": 21176871,
2363 "rsid": null,
2364 "chromosomeHgvsName": "g.21176871G\u003eA",
2365 "cpicAlleles": [
2366 "A",
2367 "G"
2368 ],
2369 "cpicToVcfAlleleMap": {
2370 "A": "A",
2371 "G": "G"
2372 },
2373 "ref": "G",
2374 "alts": [
2375 "A"
2376 ]
2377 },
2378 {
2379 "chromosome": "chr12",
2380 "position": 21176898,
2381 "cpicPosition": 21176898,
2382 "rsid": "rs77271279",
2383 "chromosomeHgvsName": "g.21176898G\u003eT",
2384 "cpicAlleles": [
2385 "G",
2386 "T"
2387 ],
2388 "cpicToVcfAlleleMap": {
2389 "T": "T",
2390 "G": "G"
2391 },
2392 "ref": "G",
2393 "alts": [
2394 "T"
2395 ]
2396 },
2397 {
2398 "chromosome": "chr12",
2399 "position": 21178612,
2400 "cpicPosition": 21178612,
2401 "rsid": "rs141467543",
2402 "chromosomeHgvsName": "g.21178612A\u003eG",
2403 "cpicAlleles": [
2404 "A",
2405 "G"
2406 ],
2407 "cpicToVcfAlleleMap": {
2408 "A": "A",
2409 "G": "G"
2410 },
2411 "ref": "A",
2412 "alts": [
2413 "G"
2414 ]
2415 },
2416 {
2417 "chromosome": "chr12",
2418 "position": 21196975,
2419 "cpicPosition": 21196975,
2420 "rsid": "rs183501729",
2421 "chromosomeHgvsName": "g.21196975C\u003eT",
2422 "cpicAlleles": [
2423 "C",
2424 "T"
2425 ],
2426 "cpicToVcfAlleleMap": {
2427 "C": "C",
2428 "T": "T"
2429 },
2430 "ref": "C",
2431 "alts": [
2432 "T"
2433 ]
2434 },
2435 {
2436 "chromosome": "chr12",
2437 "position": 21200544,
2438 "cpicPosition": 21200544,
2439 "rsid": "rs72559747",
2440 "chromosomeHgvsName": "g.21200544C\u003eG",
2441 "cpicAlleles": [
2442 "C",
2443 "G"
2444 ],
2445 "cpicToVcfAlleleMap": {
2446 "C": "C",
2447 "G": "G"
2448 },
2449 "ref": "C",
2450 "alts": [
2451 "G"
2452 ]
2453 },
2454 {
2455 "chromosome": "chr12",
2456 "position": 21206031,
2457 "cpicPosition": 21206031,
2458 "rsid": "rs74064213",
2459 "chromosomeHgvsName": "g.21206031A\u003eG",
2460 "cpicAlleles": [
2461 "A",
2462 "G"
2463 ],
2464 "cpicToVcfAlleleMap": {
2465 "A": "A",
2466 "G": "G"
2467 },
2468 "ref": "A",
2469 "alts": [
2470 "G"
2471 ]
2472 },
2473 {
2474 "chromosome": "chr12",
2475 "position": 21222355,
2476 "cpicPosition": 21222355,
2477 "rsid": "rs71581941",
2478 "chromosomeHgvsName": "g.21222355C\u003eT",
2479 "cpicAlleles": [
2480 "C",
2481 "T"
2482 ],
2483 "cpicToVcfAlleleMap": {
2484 "C": "C",
2485 "T": "T"
2486 },
2487 "ref": "C",
2488 "alts": [
2489 "T"
2490 ]
2491 }
2492 ],
2493 "mismatchedAlleles": []
2494 },
2495 "uncallableHaplotypes": [
2496 "*41",
2497 "*45",
2498 "*38"
2499 ],
2500 "ignoredHaplotypes": []
2501 },
2502 {
2503 "alleleDefinitionVersion": "01/10/22",
2504 "chromosome": "chr6",
2505 "gene": "TPMT",
2506 "diplotypes": [
2507 {
2508 "name": "*1/*1",
2509 "haplotype1": {
2510 "name": "*1",
2511 "sequences": [
2512 "18130687:T;18130694:T;18130725:A;18130729:C;18130758:A;18130762:C;18130772:A;18130781:C;18132136:A;18132147:A;18132163:C;18133845:T;18133847:C;18133870:A;18133884:G;18133887:T;18133890:C;18138969:C;18138970:G;18138997:C;18139027:C;18139689:C;18139710:G;18143597:T;18143606:T;18143613:C;18143622:C;18143643:A;18143700:C;18143718:G;18143724:C;18143728:C;18147838:G;18147845:C;18147851:G;18147856:A;18147910:A;18149004:G;18149022:C;18149032:C;18149045:T;18149126:A;18149127:T;"
2513 ]
2514 },
2515 "haplotype2": {
2516 "name": "*1",
2517 "sequences": [
2518 "18130687:T;18130694:T;18130725:A;18130729:C;18130758:A;18130762:C;18130772:A;18130781:C;18132136:A;18132147:A;18132163:C;18133845:T;18133847:C;18133870:A;18133884:G;18133887:T;18133890:C;18138969:C;18138970:G;18138997:C;18139027:C;18139689:C;18139710:G;18143597:T;18143606:T;18143613:C;18143622:C;18143643:A;18143700:C;18143718:G;18143724:C;18143728:C;18147838:G;18147845:C;18147851:G;18147856:A;18147910:A;18149004:G;18149022:C;18149032:C;18149045:T;18149126:A;18149127:T;"
2519 ]
2520 },
2521 "score": 86
2522 }
2523 ],
2524 "haplotypes": [
2525 {
2526 "name": "*1",
2527 "sequences": [
2528 "18130687:T;18130694:T;18130725:A;18130729:C;18130758:A;18130762:C;18130772:A;18130781:C;18132136:A;18132147:A;18132163:C;18133845:T;18133847:C;18133870:A;18133884:G;18133887:T;18133890:C;18138969:C;18138970:G;18138997:C;18139027:C;18139689:C;18139710:G;18143597:T;18143606:T;18143613:C;18143622:C;18143643:A;18143700:C;18143718:G;18143724:C;18143728:C;18147838:G;18147845:C;18147851:G;18147856:A;18147910:A;18149004:G;18149022:C;18149032:C;18149045:T;18149126:A;18149127:T;"
2529 ]
2530 }
2531 ],
2532 "phased": true,
2533 "variants": [
2534 {
2535 "position": 18130687,
2536 "rsid": "rs1142345",
2537 "vcfCall": "T|T"
2538 },
2539 {
2540 "position": 18130694,
2541 "rsid": "rs150900439",
2542 "vcfCall": "T|T"
2543 },
2544 {
2545 "position": 18130725,
2546 "rsid": "rs72552736",
2547 "vcfCall": "A|A"
2548 },
2549 {
2550 "position": 18130729,
2551 "rsid": "rs139392616",
2552 "vcfCall": "C|C"
2553 },
2554 {
2555 "position": 18130758,
2556 "rsid": "rs398122996",
2557 "vcfCall": "A|A"
2558 },
2559 {
2560 "position": 18130762,
2561 "rsid": "rs56161402",
2562 "vcfCall": "C|C"
2563 },
2564 {
2565 "position": 18130772,
2566 "rsid": "rs377085266",
2567 "vcfCall": "A|A"
2568 },
2569 {
2570 "position": 18130781,
2571 "rsid": "rs1800584",
2572 "vcfCall": "C|C"
2573 },
2574 {
2575 "position": 18132136,
2576 "rsid": "rs72556347",
2577 "vcfCall": "A|A"
2578 },
2579 {
2580 "position": 18132147,
2581 "rsid": "rs79901429",
2582 "vcfCall": "A|A"
2583 },
2584 {
2585 "position": 18132163,
2586 "rsid": null,
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2628 },
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2633 },
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2638 },
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2668 },
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2673 },
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2678 },
2679 {
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2683 },
2684 {
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2688 },
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2693 },
2694 {
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2703 },
2704 {
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2707 "vcfCall": "G|G"
2708 },
2709 {
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2712 "vcfCall": "A|A"
2713 },
2714 {
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2718 },
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2722 "vcfCall": "G|G"
2723 },
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2728 },
2729 {
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2732 "vcfCall": "C|C"
2733 },
2734 {
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2738 },
2739 {
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2743 },
2744 {
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2746 "rsid": "rs9333569",
2747 "vcfCall": "T|T"
2748 }
2749 ],
2750 "variantsOfInterest": [],
2751 "matchData": {
2752 "missingPositions": [],
2753 "mismatchedAlleles": []
2754 },
2755 "uncallableHaplotypes": [],
2756 "ignoredHaplotypes": []
2757 },
2758 {
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2761 "gene": "UGT1A1",
2762 "diplotypes": [
2763 {
2764 "name": "*1/*1",
2765 "haplotype1": {
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2769 ]
2770 },
2771 "haplotype2": {
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2778 }
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2780 "haplotypes": [
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2785 ]
2786 }
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2794 },
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2799 },
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2809 }
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2817 "ignoredHaplotypes": []
2818 },
2819 {
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2823 "diplotypes": [
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2829 "31096368:C;"
2830 ]
2831 },
2832 "haplotype2": {
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2835 "31096368:C;"
2836 ]
2837 },
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2839 }
2840 ],
2841 "haplotypes": [
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2845 "31096368:C;"
2846 ]
2847 }
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2850 "variants": [
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2855 }
2856 ],
2857 "variantsOfInterest": [],
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2861 },
2862 "uncallableHaplotypes": [],
2863 "ignoredHaplotypes": []
2864 }
2865 ],
2866 "vcfWarnings": {}
2867 }