diff --git a/test/data/local-wgs1/README.md b/test/data/local-wgs1/README.md new file mode 100644 index 0000000..3199cb4 --- /dev/null +++ b/test/data/local-wgs1/README.md @@ -0,0 +1,48 @@ +# local-wgs1 benchmark + +This dataset contains small BAMs and FASTQs overlapping reasonably +high-confidence variants from a patient with high quality whole genome +sequencing. This can be used to measure sensitivity. + +The data was derived from the guacamole cancer-wgs1 test data, which came from +an australian ovarian cancer study (AOCS) patient. It contains reads +overlapping ~320 called variants that were published with this dataset. The +AOCS uses their own pipeline: https://sourceforge.net/projects/adamajava/ + +The published calls are in [published_calls.csv](published_calls.csv) in +varlens format. These are mostly only the calls that were validated using an +orthogonal method, although the details of the validation are not clear. Many +other calls were made for this patient that were not attempted for validation +and are not included here. Note this is whole genome sequencing. + +Reads overlapping the selected variants were extracted from the original BAM +(aligned by the AOCS project) and written to the small BAMs included here. + +There are two tumor samples (primary and recurrence) and one normal sample. The +published calls are a union of calls for both. It would probably be reasonable +to just merge the primary.fastq and recurrence.fastq into one file and use that +as the tumor sample. Or could call separately on each and merge. I created a +merged fastq for by running: + +``` +zcat primary.fastq.gz recurrence.fastq.gz | gzip - > tumor_combined.fastq.gz +``` + +The original AOCS data was aligned to a nonstandard reference that seems to be +b37 but with "chr" prefixes (but is not hg19 since mitochondria and some other +contigs are named as in b37). This is an issue if we want to use this data to +run from the BAM file. Running variant calling using these BAMs against hg19 +may work though, if we ignore mitochondrial variants. + +FASTQs were generated from the BAMs using this +[bam2fastq](https://github.com/jts/bam2fastq) tool with `--all-to-stdout` +option. However, read mates were lost, so it is possible that some reads in +these FASTQs will not align to their correct locus. + +## To get data + +``` +mkdir downloaded +wget https://www.dropbox.com/sh/naqgsi744z9ccqp/AADMEoLnHPupbXhLwHOz8MyDa?dl=1 -O downloaded/downloaded.zip +unzip downloaded/downloaded.zip -d downloaded/ +``` diff --git a/test/data/local-wgs1/published_calls.csv b/test/data/local-wgs1/published_calls.csv new file mode 100644 index 0000000..687d70a --- /dev/null +++ b/test/data/local-wgs1/published_calls.csv @@ -0,0 +1,323 @@ +patient,genome,contig,interbase_start,interbase_end,ref,alt,validation +PT1,GRCh37,chr1,10719783,10719784,T,G,untested +PT1,GRCh37,chr1,11137693,11137694,G,A,verified +PT1,GRCh37,chr1,11826130,11826131,A,T,verified +PT1,GRCh37,chr1,17664605,17664606,C,G,verified +PT1,GRCh37,chr1,26670492,26670493,G,T,verified +PT1,GRCh37,chr1,44057207,44057208,C,G,verified +PT1,GRCh37,chr1,46489580,46489581,C,G,verified +PT1,GRCh37,chr1,57140101,57140112,ATAGACAGAAG,,Unknown +PT1,GRCh37,chr1,64015185,64015186,G,T,verified +PT1,GRCh37,chr1,70452020,70452021,G,A,verified +PT1,GRCh37,chr1,119584926,119584927,T,C,untested +PT1,GRCh37,chr1,150256908,150256909,G,A,verified +PT1,GRCh37,chr1,152278669,152278670,C,A,verified +PT1,GRCh37,chr1,152944534,152944535,A,T,verified +PT1,GRCh37,chr1,160788016,160788017,G,A,verified +PT1,GRCh37,chr1,165513832,165513833,C,A,verified +PT1,GRCh37,chr1,167023590,167023591,G,C,verified +PT1,GRCh37,chr1,167190149,167190150,G,A,verified +PT1,GRCh37,chr1,181721310,181721311,A,G,verified +PT1,GRCh37,chr1,186135986,186135987,G,A,verified +PT1,GRCh37,chr1,197069826,197069847,ACACAGCCATCTGAAGGAAGA,,Unknown +PT1,GRCh37,chr1,206858744,206858745,C,G,verified +PT1,GRCh37,chr1,227843240,227843241,G,C,verified +PT1,GRCh37,chr1,228505168,228505169,C,G,verified +PT1,GRCh37,chr1,235916566,235916567,G,A,verified +PT1,GRCh37,chr1,244238664,244238682,GGTCTGGTAAGCAGAGAG,,Unknown +PT1,GRCh37,chr1,248570052,248570053,G,C,verified +PT1,GRCh37,chr1,248570285,248570286,C,T,verified +PT1,GRCh37,chr1,248756582,248756583,C,T,verified +PT1,GRCh37,chr10,5014385,5014386,T,G,untested +PT1,GRCh37,chr10,5435899,5435900,G,T,verified +PT1,GRCh37,chr10,14995969,14995970,T,C,verified +PT1,GRCh37,chr10,27024249,27024250,G,T,verified +PT1,GRCh37,chr10,37508752,37508753,G,T,verified +PT1,GRCh37,chr10,63852134,63852135,G,A,verified +PT1,GRCh37,chr10,64159321,64159322,C,T,verified +PT1,GRCh37,chr10,67457860,67457861,A,G,verified +PT1,GRCh37,chr10,70432665,70432666,G,T,verified +PT1,GRCh37,chr10,71146161,71146162,A,T,verified +PT1,GRCh37,chr10,76788384,76788385,G,C,verified +PT1,GRCh37,chr10,76994373,76994374,G,C,verified +PT1,GRCh37,chr10,98082448,98082449,A,C,verified +PT1,GRCh37,chr10,99696104,99696105,C,G,verified +PT1,GRCh37,chr10,129690930,129690931,C,A,verified +PT1,GRCh37,chr10,133949442,133949443,G,C,verified +PT1,GRCh37,chr11,499541,499542,C,T,verified +PT1,GRCh37,chr11,598389,598390,C,T,verified +PT1,GRCh37,chr11,1083058,1083059,T,G,verified +PT1,GRCh37,chr11,1093332,1093333,A,T,mixed +PT1,GRCh37,chr11,2797245,2797246,C,G,untested +PT1,GRCh37,chr11,5510676,5510677,C,T,verified +PT1,GRCh37,chr11,26552834,26552835,A,T,verified +PT1,GRCh37,chr11,33564047,33564048,T,A,verified +PT1,GRCh37,chr11,45267964,45267965,G,A,verified +PT1,GRCh37,chr11,58170667,58170668,G,A,verified +PT1,GRCh37,chr11,59860958,59860959,C,T,verified +PT1,GRCh37,chr11,62457876,62457877,C,G,verified +PT1,GRCh37,chr11,65124264,65124265,C,A,verified +PT1,GRCh37,chr11,65164360,65164361,C,G,verified +PT1,GRCh37,chr11,70338442,70338443,C,G,verified +PT1,GRCh37,chr11,71629944,71629945,C,A,verified +PT1,GRCh37,chr11,71671885,71671886,G,T,verified +PT1,GRCh37,chr11,85396260,85396261,C,T,verified +PT1,GRCh37,chr11,124670267,124670268,C,T,verified +PT1,GRCh37,chr12,419096,419097,C,T,verified +PT1,GRCh37,chr12,4479731,4479732,G,A,untested +PT1,GRCh37,chr12,4699921,4699922,G,T,verified +PT1,GRCh37,chr12,9307258,9307259,A,C,verified +PT1,GRCh37,chr12,20893237,20893238,A,T,verified +PT1,GRCh37,chr12,49957213,49957214,G,C,verified +PT1,GRCh37,chr12,53207530,53207531,G,T,untested +PT1,GRCh37,chr12,53293816,53293817,G,C,verified +PT1,GRCh37,chr12,57858943,57858944,C,A,verified +PT1,GRCh37,chr12,65857040,65857041,G,C,verified +PT1,GRCh37,chr12,70091489,70091508,TTGTAGATGCTGCCTCTCC,,Unknown +PT1,GRCh37,chr12,100489605,100489606,A,T,verified +PT1,GRCh37,chr12,104064514,104064515,G,A,verified +PT1,GRCh37,chr12,113633528,113633529,C,T,verified +PT1,GRCh37,chr12,113796642,113796671,CACCCTGACGCCGTGGCCTGGGCCAACCT,,Unknown +PT1,GRCh37,chr12,120270566,120270567,T,C,verified +PT1,GRCh37,chr12,121079139,121079140,C,T,verified +PT1,GRCh37,chr12,123186764,123186765,A,T,verified +PT1,GRCh37,chr13,20641109,20641117,AACTAGGC,,Unknown +PT1,GRCh37,chr13,20797199,20797200,G,T,untested +PT1,GRCh37,chr13,32886023,32886024,C,T,verified +PT1,GRCh37,chr13,35770373,35770374,C,G,verified +PT1,GRCh37,chr14,50089216,50089220,CTAA,,Unknown +PT1,GRCh37,chr14,53522608,53522609,T,C,verified +PT1,GRCh37,chr14,62541992,62541993,G,T,verified +PT1,GRCh37,chr14,63174522,63174523,G,C,verified +PT1,GRCh37,chr14,64194172,64194173,C,A,verified +PT1,GRCh37,chr14,103371590,103371591,A,T,mixed +PT1,GRCh37,chr14,104639548,104639549,G,A,verified +PT1,GRCh37,chr14,107034732,107034733,G,A,verified +PT1,GRCh37,chr15,24921480,24921481,G,A,verified +PT1,GRCh37,chr15,24922417,24922418,C,T,verified +PT1,GRCh37,chr15,33795857,33795858,C,G,verified +PT1,GRCh37,chr15,38786967,38786968,G,T,verified +PT1,GRCh37,chr15,41803482,41803483,C,T,untested +PT1,GRCh37,chr15,41961538,41961539,A,T,verified +PT1,GRCh37,chr15,54307133,54307134,T,G,verified +PT1,GRCh37,chr15,69006941,69006942,C,T,verified +PT1,GRCh37,chr15,74483307,74483308,C,A,verified +PT1,GRCh37,chr15,74836598,74836599,G,C,verified +PT1,GRCh37,chr15,77906499,77906500,G,A,verified +PT1,GRCh37,chr15,91488158,91488159,G,A,verified +PT1,GRCh37,chr16,2264505,2264506,C,G,verified +PT1,GRCh37,chr16,2817194,2817195,C,T,verified +PT1,GRCh37,chr16,3024163,3024164,G,A,verified +PT1,GRCh37,chr16,48138191,48138192,C,T,verified +PT1,GRCh37,chr16,51174707,51174708,C,A,verified +PT1,GRCh37,chr16,53907775,53907776,A,T,verified +PT1,GRCh37,chr16,55774441,55774455,GGTTTCTTCCAACA,,Unknown +PT1,GRCh37,chr16,67986305,67986306,G,A,verified +PT1,GRCh37,chr16,68679327,68679328,G,C,verified +PT1,GRCh37,chr16,84494335,84494336,G,T,verified +PT1,GRCh37,chr16,89199586,89199587,G,T,verified +PT1,GRCh37,chr17,1616218,1616219,G,C,verified +PT1,GRCh37,chr17,5323562,5323563,C,G,untested +PT1,GRCh37,chr17,7577021,7577028,GCTTAGT,,Unknown +PT1,GRCh37,chr17,10432004,10432005,A,T,verified +PT1,GRCh37,chr17,18419818,18419846,CCAGGCACAGTGGCTCACACCTGTAATC,,Unknown +PT1,GRCh37,chr17,20799159,20799160,G,A,verified +PT1,GRCh37,chr17,21730474,21730475,G,T,verified +PT1,GRCh37,chr17,28809927,28809928,C,G,verified +PT1,GRCh37,chr17,36666550,36666551,T,C,verified +PT1,GRCh37,chr17,37046746,37046747,T,C,verified +PT1,GRCh37,chr17,39334187,39334188,G,A,verified +PT1,GRCh37,chr17,43138646,43138647,A,G,verified +PT1,GRCh37,chr17,48764978,48764979,G,A,verified +PT1,GRCh37,chr17,56404074,56404075,C,A,verified +PT1,GRCh37,chr17,61457158,61457159,A,G,verified +PT1,GRCh37,chr17,76480980,76480981,G,A,verified +PT1,GRCh37,chr18,5406808,5406809,A,G,verified +PT1,GRCh37,chr18,20334509,20334510,C,T,verified +PT1,GRCh37,chr18,72589260,72589261,G,A,verified +PT1,GRCh37,chr19,1114315,1114316,T,C,verified +PT1,GRCh37,chr19,6714237,6714238,T,C,verified +PT1,GRCh37,chr19,12576106,12576107,G,T,verified +PT1,GRCh37,chr19,15061116,15061117,G,A,verified +PT1,GRCh37,chr19,17416686,17416687,G,A,verified +PT1,GRCh37,chr19,32896426,32896427,A,C,verified +PT1,GRCh37,chr19,33116792,33116793,T,A,verified +PT1,GRCh37,chr19,34887269,34887270,G,A,verified +PT1,GRCh37,chr19,40542362,40542363,G,C,verified +PT1,GRCh37,chr19,42777872,42777873,C,A,verified +PT1,GRCh37,chr19,45926579,45926580,G,A,verified +PT1,GRCh37,chr19,47575305,47575341,GCCCATTGGCCCTGGGGGTCCCATGTTGGGCCCAGG,,Unknown +PT1,GRCh37,chr19,49573448,49573449,G,T,verified +PT1,GRCh37,chr19,54760590,54760591,A,T,verified +PT1,GRCh37,chr19,54760592,54760593,C,A,verified +PT1,GRCh37,chr19,55558784,55558785,G,A,verified +PT1,GRCh37,chr19,56515108,56515109,T,G,verified +PT1,GRCh37,chr2,5832939,5832940,C,T,verified +PT1,GRCh37,chr2,37450448,37450449,C,T,verified +PT1,GRCh37,chr2,46237515,46237516,G,C,verified +PT1,GRCh37,chr2,55570791,55570792,A,T,verified +PT1,GRCh37,chr2,56145066,56145067,G,T,verified +PT1,GRCh37,chr2,56411922,56411923,G,C,untested +PT1,GRCh37,chr2,73339826,73339827,G,A,verified +PT1,GRCh37,chr2,74475587,74475588,G,A,verified +PT1,GRCh37,chr2,86705035,86705036,G,A,verified +PT1,GRCh37,chr2,95463677,95463678,A,G,verified +PT1,GRCh37,chr2,121744171,121744172,C,G,untested +PT1,GRCh37,chr2,151326647,151326648,T,G,verified +PT1,GRCh37,chr2,167262767,167262768,G,T,verified +PT1,GRCh37,chr2,171323193,171323194,G,A,verified +PT1,GRCh37,chr2,175006585,175006586,C,T,verified +PT1,GRCh37,chr2,179604105,179604106,C,T,verified +PT1,GRCh37,chr2,185801443,185801444,T,C,verified +PT1,GRCh37,chr2,191383877,191383878,A,G,verified +PT1,GRCh37,chr2,204081997,204081998,G,A,verified +PT1,GRCh37,chr2,207615703,207615704,C,A,verified +PT1,GRCh37,chr2,207615704,207615705,C,A,verified +PT1,GRCh37,chr2,210761124,210761125,G,C,verified +PT1,GRCh37,chr2,217142481,217142482,A,G,verified +PT1,GRCh37,chr2,219487537,219487538,G,C,verified +PT1,GRCh37,chr2,220264156,220264157,C,A,verified +PT1,GRCh37,chr2,228884191,228884192,C,T,verified +PT1,GRCh37,chr2,228886422,228886423,T,A,verified +PT1,GRCh37,chr2,231774876,231774877,G,A,verified +PT1,GRCh37,chr20,333853,333855,AT,,Unknown +PT1,GRCh37,chr20,2593850,2593851,G,A,verified +PT1,GRCh37,chr20,3673779,3673780,T,C,verified +PT1,GRCh37,chr20,3731465,3731466,G,A,verified +PT1,GRCh37,chr20,23016997,23016998,A,G,verified +PT1,GRCh37,chr20,23731454,23731467,CAGCTAGGGTGGC,,Unknown +PT1,GRCh37,chr20,34328749,34328750,T,C,verified +PT1,GRCh37,chr20,35740723,35740724,T,A,verified +PT1,GRCh37,chr20,36869699,36869700,A,G,verified +PT1,GRCh37,chr20,40790161,40790162,G,A,verified +PT1,GRCh37,chr20,43753035,43753036,A,G,verified +PT1,GRCh37,chr20,44469508,44469509,C,A,verified +PT1,GRCh37,chr20,50406607,50406608,G,T,verified +PT1,GRCh37,chr20,60927308,60927309,C,G,verified +PT1,GRCh37,chr20,61299105,61299125,CGAAGGCCACCTGAACCTAA,,Unknown +PT1,GRCh37,chr21,31988890,31988891,G,C,verified +PT1,GRCh37,chr21,33057463,33057464,C,A,verified +PT1,GRCh37,chr22,19371171,19371188,CGTGATTCTTCTCCGGC,,Unknown +PT1,GRCh37,chr22,19443206,19443207,T,C,verified +PT1,GRCh37,chr22,20710291,20710292,G,C,untested +PT1,GRCh37,chr22,26902901,26902902,C,A,verified +PT1,GRCh37,chr22,30770081,30770082,T,C,untested +PT1,GRCh37,chr22,31668672,31668673,C,T,verified +PT1,GRCh37,chr22,39218619,39218620,C,G,verified +PT1,GRCh37,chr22,42229324,42229325,G,A,verified +PT1,GRCh37,chr22,43831000,43831001,G,A,verified +PT1,GRCh37,chr3,12942424,12942425,C,T,verified +PT1,GRCh37,chr3,27346335,27346336,G,T,verified +PT1,GRCh37,chr3,40285956,40285962,TGTGTA,,Unknown +PT1,GRCh37,chr3,49928622,49928623,C,T,verified +PT1,GRCh37,chr3,58155493,58155494,C,A,verified +PT1,GRCh37,chr3,62187208,62187209,G,T,verified +PT1,GRCh37,chr3,64672444,64672445,G,C,untested +PT1,GRCh37,chr3,97593807,97593808,A,C,verified +PT1,GRCh37,chr3,99569128,99569151,CTCTCCAGTTCTTGAGACAACTG,,Unknown +PT1,GRCh37,chr3,100949811,100949812,C,A,verified +PT1,GRCh37,chr3,111835678,111835679,C,G,untested +PT1,GRCh37,chr3,111981904,111981905,C,A,verified +PT1,GRCh37,chr3,114069382,114069383,G,T,verified +PT1,GRCh37,chr3,121207858,121207859,G,A,verified +PT1,GRCh37,chr3,130107720,130107721,C,G,verified +PT1,GRCh37,chr3,158015820,158015821,A,,Unknown +PT1,GRCh37,chr3,165547351,165547352,A,T,verified +PT1,GRCh37,chr3,179131315,179131316,C,G,verified +PT1,GRCh37,chr3,184298247,184298248,C,T,verified +PT1,GRCh37,chr3,190374284,190374285,T,C,verified +PT1,GRCh37,chr3,197672556,197672557,C,A,verified +PT1,GRCh37,chr4,2958424,2958425,G,A,verified +PT1,GRCh37,chr4,10446117,10446141,CCAGGCTGTTGAGATCTATCTTCT,,Unknown +PT1,GRCh37,chr4,18023343,18023344,C,T,verified +PT1,GRCh37,chr4,47939451,47939452,A,G,verified +PT1,GRCh37,chr4,68691575,68691576,C,A,verified +PT1,GRCh37,chr4,70596299,70596300,T,C,verified +PT1,GRCh37,chr4,71115214,71115215,A,G,verified +PT1,GRCh37,chr4,95158102,95158103,T,A,verified +PT1,GRCh37,chr4,99273744,99273745,C,A,verified +PT1,GRCh37,chr4,119951454,119951455,A,C,verified +PT1,GRCh37,chr4,120371197,120371198,G,C,verified +PT1,GRCh37,chr4,123317522,123317523,A,G,verified +PT1,GRCh37,chr4,174450191,174450192,C,T,verified +PT1,GRCh37,chr4,184932254,184932255,C,G,verified +PT1,GRCh37,chr4,186548051,186548052,C,T,verified +PT1,GRCh37,chr5,1887480,1887481,G,T,verified +PT1,GRCh37,chr5,38964930,38964931,T,G,verified +PT1,GRCh37,chr5,82649008,82649017,CTTTAGAAA,,Unknown +PT1,GRCh37,chr5,82833487,82833488,G,A,verified +PT1,GRCh37,chr5,93722085,93722086,A,C,verified +PT1,GRCh37,chr5,112676430,112676431,A,C,verified +PT1,GRCh37,chr5,166802401,166802424,CGGCCTGTCCAGTCGTGAAAACT,,Unknown +PT1,GRCh37,chr5,166802421,166802422,A,T,verified +PT1,GRCh37,chr5,172113843,172113844,C,G,verified +PT1,GRCh37,chr6,15507437,15507438,C,A,verified +PT1,GRCh37,chr6,22294816,22294817,C,A,verified +PT1,GRCh37,chr6,25913628,25913629,G,T,untested +PT1,GRCh37,chr6,33156301,33156302,C,A,verified +PT1,GRCh37,chr6,43018956,43018957,C,T,verified +PT1,GRCh37,chr6,49754163,49754164,T,G,verified +PT1,GRCh37,chr6,56044888,56044889,C,G,verified +PT1,GRCh37,chr6,56329526,56329527,C,A,verified +PT1,GRCh37,chr6,70098600,70098601,C,G,verified +PT1,GRCh37,chr6,117686273,117686274,A,G,verified +PT1,GRCh37,chr6,133070834,133070835,T,G,verified +PT1,GRCh37,chr6,157803193,157803194,C,G,verified +PT1,GRCh37,chr6,158923395,158923396,T,G,verified +PT1,GRCh37,chr6,159029363,159029364,G,C,verified +PT1,GRCh37,chr6,159653715,159653716,G,T,untested +PT1,GRCh37,chr7,11415436,11415437,C,A,verified +PT1,GRCh37,chr7,22672428,22672429,A,G,verified +PT1,GRCh37,chr7,25176007,25176008,G,C,verified +PT1,GRCh37,chr7,28763887,28763888,C,T,verified +PT1,GRCh37,chr7,31867957,31867958,A,G,verified +PT1,GRCh37,chr7,31918657,31918658,G,A,verified +PT1,GRCh37,chr7,43506136,43506137,C,T,verified +PT1,GRCh37,chr7,45002399,45002400,G,A,verified +PT1,GRCh37,chr7,50135686,50135687,T,G,verified +PT1,GRCh37,chr7,50444418,50444419,C,A,untested +PT1,GRCh37,chr7,73604590,73604591,C,T,verified +PT1,GRCh37,chr7,92821621,92821622,T,G,verified +PT1,GRCh37,chr7,129913548,129913549,A,T,verified +PT1,GRCh37,chr7,130418732,130418733,A,C,verified +PT1,GRCh37,chr7,133689665,133689666,G,T,verified +PT1,GRCh37,chr7,141333727,141333728,A,G,verified +PT1,GRCh37,chr7,141952125,141952126,C,G,verified +PT1,GRCh37,chr7,143053769,143053770,C,T,untested +PT1,GRCh37,chr7,143806725,143806726,G,A,verified +PT1,GRCh37,chr7,144288596,144288597,A,T,verified +PT1,GRCh37,chr8,17434805,17434806,G,T,untested +PT1,GRCh37,chr8,18541353,18541354,C,A,verified +PT1,GRCh37,chr8,20068079,20068080,G,A,verified +PT1,GRCh37,chr8,22009087,22009088,G,A,verified +PT1,GRCh37,chr8,35093350,35093351,T,A,untested +PT1,GRCh37,chr8,53079508,53079509,C,T,verified +PT1,GRCh37,chr8,66637134,66637135,T,A,verified +PT1,GRCh37,chr8,74868000,74868001,C,G,verified +PT1,GRCh37,chr8,75227439,75227440,A,G,verified +PT1,GRCh37,chr8,87560624,87560625,C,A,verified +PT1,GRCh37,chr8,104068134,104068135,A,T,verified +PT1,GRCh37,chr8,120118150,120118151,G,A,verified +PT1,GRCh37,chr8,124368622,124368623,T,A,verified +PT1,GRCh37,chr8,125058088,125058089,C,G,verified +PT1,GRCh37,chr8,131146567,131146568,C,T,verified +PT1,GRCh37,chr8,133627338,133627339,C,G,verified +PT1,GRCh37,chr8,133912521,133912535,CCTGGTGTGTGGAC,,Unknown +PT1,GRCh37,chr8,145675790,145675791,G,A,verified +PT1,GRCh37,chr8,146108009,146108010,T,A,verified +PT1,GRCh37,chr9,1056216,1056255,CTATCGCCCCATTCCAGCGGAGACTTATGTAGGAGGGAC,,Unknown +PT1,GRCh37,chr9,34835280,34835281,T,G,verified +PT1,GRCh37,chr9,104124964,104124965,T,C,verified +PT1,GRCh37,chr9,119461676,119461677,T,C,verified +PT1,GRCh37,chr9,119625866,119625867,A,T,verified +PT1,GRCh37,chr9,124989722,124989723,T,G,verified +PT1,GRCh37,chr9,133304935,133304936,C,A,verified +PT1,GRCh37,chr9,136202947,136202948,C,A,verified +PT1,GRCh37,chr9,138413389,138413390,T,A,untested +PT1,GRCh37,chr9,138591245,138591246,C,A,verified +PT1,GRCh37,chr9,139739298,139739299,G,T,untested +PT1,GRCh37,chr9,139749098,139749110,GCCGTGACCACA,,Unknown +PT1,GRCh37,chr9,139889269,139889309,GGCGGAAGTGCGCGCACACCGTCTGCGGGCAGGATCGCGG,,Unknown +PT1,GRCh37,chrMT,4963,4964,C,T,verified +PT1,GRCh37,chrMT,10906,10907,T,C,verified +PT1,GRCh37,chrMT,11039,11040,T,C,verified