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["Variant Info",{"$nulls":3},108981,{"$nulls":4},"RefSeq Genes 105 Interim v1, NCBI",{"$nulls":5},"Transcript Interactions RefSeq Genes 105 Interim v1, NCBI",null,null,"Aux Fields RefSeq Genes 105 Interim v1, NCBI",{"$nulls":13},"Summary of dbSNP 149, NCBI","dbSNP 149, NCBI",{"$nulls":6},"1kG Phase3 - Variant Frequencies 5a with Genotype Counts, GHI",{"$nulls":33},"Summary of 1kG Phase3 CNVs and Large Variants 5b V2, GHI","1kG Phase3 CNVs and Large Variants 5b V2, GHI",{"$nulls":35},"ClinVar 2019-04-01, NCBI"]
["Chr:Pos","Ref/Alt","Identifier","Filter","Variant Allele Freq","Allelic Depths (AD)","Read Depths (DP)","Genotype Qualities (GQ)","0/1 Genotypes (GT)","Gene Names","Sequence Ontology (Combined)","Effect (Combined)","Transcript Name (Clinically Relevant)","HGVS c. (Clinically Relevant)","HGVS p. (Clinically Relevant)","Transcript Name","Exon Number","% Dist of Tx","Gene Name","Transcript Name","Type","Transcript Type","Strand","Product ID","Protein ID","GeneID","HGNC","MIM","CCDS","HPRD","Summary of Product","LRG ID","In dbSNP?","Ref/Alt","Identifier","Flags","dbSNPBuildID","Variation Class (VC)","1kG Variant Frequencies (CAF)","Common?","Ref/Alt","Identifier","Flags","Read Depth (DP)","Allele Counts","Allele Frequencies","# Alleles","# Het","# HomoVar","AMR - Allele Counts","AMR - Allele Frequencies","AMR - # Alleles","AMR - # Het","AMR - # HomoVar","AFR - Allele Counts","AFR - Allele Frequencies","AFR - # Alleles","AFR - # Het","AFR - # HomoVar","SAS - Allele Counts","SAS - Allele Frequencies","SAS - # Alleles","SAS - # Het","SAS - # HomoVar","EUR - Allele Counts","EUR - Allele Frequencies","EUR - # Alleles","EUR - # Het","EUR - # HomoVar","EAS - Allele Counts","EAS - Allele Frequencies","EAS - # Alleles","EAS - # Het","EAS - # HomoVar","Matched?","Identifier","Type","CNV Alt Allele","Call Set","Flags","Total Read Depth","Allele Counts","Allele Frequencies","# Alleles","# Het","# HomoVar","AMR - Allele Counts","AMR - Allele Frequencies","AMR - # Alleles","AMR - # Het","AMR - # HomoVar","AFR - Allele Counts","AFR - Allele Frequencies","AFR - # Alleles","AFR - # Het","AFR - # HomoVar","SAS - Allele Counts","SAS - Allele Frequencies","SAS - # Alleles","SAS - # Het","SAS - # HomoVar","EUR - Allele Counts","EUR - Allele Frequencies","EUR - # Alleles","EUR - # Het","EUR - # HomoVar","EAS - Allele Counts","EAS - Allele Frequencies","EAS - # Alleles","EAS - # Het","EAS - # HomoVar","Ref/Alt","Variant ID","Classification","Clinical Significance","Aggregate of Interpretations from Submissions","Review Status","RSID","Gene Names","Gene IDs","HGVS g. Name","HGVS g. Name (GRCh38)","HGVS c. Name","HGVS p. Name","Per Condition Record Accessions","Conditions","Clinical Significance (per Condition)","Review Status (per Condition)","Date Last Evaluated (per Condition)"]
["1:881918","G/A",null,"PASS","0.462185","64,55",119,99,"0/1","NOC2L","missense_variant","Missense","NM_015658.3","NM_015658.3:c.1667C>T","NP_056473.2:p.Ser556Leu","NM_015658.3","15","74.0444","NOC2L","NM_015658.3","mRNA","mRNA","-","NP_056473.2","NP_056473.2","26155","24517","610770","CCDS3.1",null,"nucleolar complex protein 2 homolog",null,"True","G/A","rs35471880","RS orientation is reversed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","126","SNV","0.9706,0.02935","True","G/A","rs35471880","EX_TARGET",18072,"147","0.029353",5008,135,6,"18","0.0259366",694,14,2,"5","0.00378215",1322,5,0,"67","0.0685072",978,63,2,"57","0.05666",1006,53,2,"0","0",1008,0,0,"False"]
["1:909309","T/C",null,"PASS","0.54902","23,28",51,99,"0/1","PLEKHN1","missense_variant","Missense","NM_032129.2","NM_032129.2:c.1531T>C","NP_115505.2:p.Ser511Pro","NM_032129.2,NM_001160184.1","14,13","83.3333,82.3224","PLEKHN1,PLEKHN1","NM_032129.2,NM_001160184.1","mRNA,mRNA","mRNA,mRNA","+,+","NP_115505.2,NP_001153656.1","NP_115505.2,NP_001153656.1","84069,84069","25284,25284",",","CCDS4.1,CCDS53256.1",",","pleckstrin homology domain-containing family N member 1 isoform a,pleckstrin homology domain-containing family N member 1 isoform b",",","True","T/C","rs3829738","RS orientation is reversed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","107","SNV","0.7458,0.2542","True","T/C","rs3829738","EX_TARGET",14148,"1273","0.254193",5008,917,178,"156","0.224784",694,122,17,"316","0.239032",1322,238,39,"338","0.345603",978,200,69,"185","0.183897",1006,153,16,"278","0.275794",1008,204,37,"False"]
["1:911595","A/G",null,"PASS","0.606061","13,20",33,99,"0/1","PERM1","missense_variant","Missense","NM_001291366.1","NM_001291366.1:c.2330T>C","NP_001278295.1:p.Val777Ala","NM_001291367.1,NM_001291366.1","5,4","97.8957,98.1458","PERM1,PERM1","NM_001291367.1,NM_001291366.1","mRNA,mRNA","mRNA,mRNA","-,-","NP_001278296.1,NP_001278295.1","NP_001278296.1,NP_001278295.1","84808,84808","28208,28208","615921,615921",",CCDS76083.1",",","PGC-1 and ERR-induced regulator in muscle protein 1 isoform 2,PGC-1 and ERR-induced regulator in muscle protein 1 isoform 1",",","True","A/G","rs7417106","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","116","SNV","0.2897,0.7103","True","A/G","rs7417106",null,14471,"3557","0.710264",5008,823,1367,"556","0.801153",694,116,220,"541","0.409228",1322,311,115,"736","0.752556",978,162,287,"792","0.787276",1006,162,315,"932","0.924603",1008,72,430,"False"]
["1:914333","C/G",null,"PASS","0.475","21,19",40,99,"0/1","PERM1","missense_variant","Missense","NM_001291366.1","NM_001291366.1:c.2077G>C","NP_001278295.1:p.Glu693Gln","NM_001291367.1,NM_001291366.1","3,2","85.7963,87.4842","PERM1,PERM1","NM_001291367.1,NM_001291366.1","mRNA,mRNA","mRNA,mRNA","-,-","NP_001278296.1,NP_001278295.1","NP_001278296.1,NP_001278295.1","84808,84808","28208,28208","615921,615921",",CCDS76083.1",",","PGC-1 and ERR-induced regulator in muscle protein 1 isoform 2,PGC-1 and ERR-induced regulator in muscle protein 1 isoform 1",",","True","C/G","rs13302979","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","121","SNV","0.4437,0.5563","True","C/G","rs13302979",null,12459,"2786","0.55631",5008,992,897,"454","0.654179",694,152,151,"322","0.24357",1322,226,48,"591","0.604294",978,213,189,"607","0.60338",1006,241,183,"812","0.805556",1008,160,326,"False"]
["1:914852","G/C",null,"PASS","0.482759","30,28",58,99,"0/1","PERM1","missense_variant","Missense","NM_001291366.1","NM_001291366.1:c.1558C>G","NP_001278295.1:p.Gln520Glu","NM_001291367.1,NM_001291366.1","3,2","60.9756,65.6132","PERM1,PERM1","NM_001291367.1,NM_001291366.1","mRNA,mRNA","mRNA,mRNA","-,-","NP_001278296.1,NP_001278295.1","NP_001278296.1,NP_001278295.1","84808,84808","28208,28208","615921,615921",",CCDS76083.1",",","PGC-1 and ERR-induced regulator in muscle protein 1 isoform 2,PGC-1 and ERR-induced regulator in muscle protein 1 isoform 1",",","True","G/C","rs13303368","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","121","SNV","0.4874,0.5126","True","G/C","rs13303368",null,13116,"2567","0.51258",5008,1009,779,"426","0.613833",694,162,132,"237","0.179274",1322,197,20,"583","0.596115",978,213,185,"603","0.599404",1006,235,184,"718","0.712302",1008,202,258,"False"]
["1:935398","G/A",null,"PASS","0.5","2,2",4,67,"0/1","HES4","5_prime_UTR_variant","Other","NM_001142467.1","NM_001142467.1:c.-45C>T",null,"NM_021170.3,NM_001142467.1","1,1",",","HES4,HES4","NM_021170.3,NM_001142467.1","mRNA,mRNA","mRNA,mRNA","-,-","NP_066993.1,NP_001135939.1","NP_066993.1,NP_001135939.1","57801,57801","24149,24149","608060,608060","CCDS5.1,CCDS44034.1","16273,16273","transcription factor HES-4 isoform 2,transcription factor HES-4 isoform 1",",","True","G/A","rs146254088","Has SubmitterLinkOut,In 5' UTR,Is Assembly specific,Is Validated,1000 Genome phase 1,1000 Genome phase 3","134","SNV","0.9838,0.01617","True","G/A","rs146254088",null,5735,"81","0.0161741",5008,81,0,"22","0.0317003",694,22,0,"5","0.00378215",1322,5,0,"15","0.0153374",978,15,0,"38","0.0377734",1006,38,0,"1","0.000992064",1008,1,0,"False"]
["1:990380","C/T",null,"PASS","0.486239","56,53",109,99,"0/1","AGRN","3_prime_UTR_variant","Other","NM_198576.3","NM_198576.3:c.*19C>T",null,"NM_198576.3,NM_001305275.1","36,39",",","AGRN,AGRN","NM_198576.3,NM_001305275.1","mRNA,mRNA","mRNA,mRNA","+,+","NP_940978.2,NP_001292204.1","NP_940978.2,NP_001292204.1","375790,375790","329,329","103320,103320","CCDS30551.1,","10550,10550","agrin isoform 2 precursor,agrin isoform 1 precursor",",","True","C/T","rs3121561","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","103","SNV","0.6565,0.3435","True","C/T","rs3121561","EX_TARGET",16151,"1720","0.34345",5008,1014,353,"180","0.259366",694,120,30,"722","0.546142",1322,336,193,"333","0.340491",978,207,63,"311","0.309145",1006,211,50,"174","0.172619",1008,140,17,"False",{"$nulls":36},"C/T","263157","Benign","Benign","Benign (2)","(2 Stars) Criteria Provided, Multiple Submitters, No Conflicts","rs3121561","AGRN","375790","NC_000001.10:g.990380C>T","NC_000001.11:g.1055000C>T","NM_198576.3:c.*19C>T",null,"RCV000252490","not specified","Benign","(2 Stars) Criteria Provided, Multiple Submitters, No Conflicts","2016-02-01"]
["1:990417","T/C",null,"PASS","0.472527","48,43",91,99,"0/1","AGRN","3_prime_UTR_variant","Other","NM_198576.3","NM_198576.3:c.*56T>C",null,"NM_198576.3,NM_001305275.1","36,39",",","AGRN,AGRN","NM_198576.3,NM_001305275.1","mRNA,mRNA","mRNA,mRNA","+,+","NP_940978.2,NP_001292204.1","NP_940978.2,NP_001292204.1","375790,375790","329,329","103320,103320","CCDS30551.1,","10550,10550","agrin isoform 2 precursor,agrin isoform 1 precursor",",","True","T/C","rs2465136","RS orientation is reversed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","100","SNV","0.616,0.384","True","T/C","rs2465136",null,18036,"1923","0.383986",5008,997,463,"189","0.272334",694,123,33,"856","0.647504",1322,288,284,"375","0.383436",978,225,75,"323","0.321074",1006,219,52,"180","0.178571",1008,142,19,"False"]
["1:1017341","G/T",null,"SOR3","0.5","2,2",4,61,"0/1","C1orf159","3_prime_UTR_variant","Other","NM_001330306.1","NM_001330306.1:c.*932C>A",null,"NM_017891.4,NM_001330306.1","10,12",",","C1orf159,C1orf159","NM_017891.4,NM_001330306.1","mRNA,mRNA","mRNA,mRNA","-,-","NP_060361.4,NP_001317235.1","NP_060361.4,NP_001317235.1","54991,54991","26062,26062",",","CCDS7.2,CCDS81250.1",",","uncharacterized protein C1orf159 isoform 2 precursor,uncharacterized protein C1orf159 isoform 1 precursor",",","True","G/T","rs1133647","RS orientation is reversed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","86","SNV","0.1909,0.8091","True","G/T","rs1133647",null,14720,"4052","0.809105",5008,766,1643,"555","0.799712",694,113,221,"1090","0.824508",1322,194,448,"752","0.768916",978,178,287,"730","0.725646",1006,210,260,"925","0.917659",1008,71,427,"False"]
["1:1018144","T/C",null,"PASS","0.424528","61,45",106,99,"0/1","C1orf159","3_prime_UTR_variant","Other","NM_001330306.1","NM_001330306.1:c.*129A>G",null,"NM_017891.4,NM_001330306.1","10,12",",","C1orf159,C1orf159","NM_017891.4,NM_001330306.1","mRNA,mRNA","mRNA,mRNA","-,-","NP_060361.4,NP_001317235.1","NP_060361.4,NP_001317235.1","54991,54991","26062,26062",",","CCDS7.2,CCDS81250.1",",","uncharacterized protein C1orf159 isoform 2 precursor,uncharacterized protein C1orf159 isoform 1 precursor",",","True","T/C","rs9442395","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","119","SNV","0.4623,0.5377","True","T/C","rs9442395",null,14052,"2693","0.53774",5008,1011,841,"456","0.657061",694,134,161,"346","0.261725",1322,258,44,"532","0.543967",978,230,151,"562","0.558648",1006,234,164,"797","0.790675",1008,155,321,"False"]
["1:1115187","C/T",null,"PASS","0.516129","30,32",62,99,"0/1","TTLL10","5_prime_UTR_variant","Other","NM_001130045.1","NM_001130045.1:c.199+70C>T",null,"NM_001130045.1,NM_153254.2","5,1",",","TTLL10,TTLL10","NM_001130045.1,NM_153254.2","mRNA,mRNA","mRNA,mRNA","+,+","NP_001123517.1,NP_694986.2","NP_001123517.1,NP_694986.2","254173,254173","26693,26693",",","CCDS44036.1,CCDS8.1",",","inactive polyglycylase TTLL10 isoform 1,inactive polyglycylase TTLL10 isoform 2",",","True","C/G/T","rs116720897","In 5' UTR,In Intron,Is Assembly specific,Is Validated,1000 Genome phase 1,1000 Genome phase 3","132","SNV","0.9956,,0.004393","True","C/T","rs116720897",null,12545,"22","0.00439297",5008,22,0,"8","0.0115274",694,8,0,"0","0",1322,0,0,"1","0.00102249",978,1,0,"12","0.0119284",1006,12,0,"1","0.000992064",1008,1,0,"False"]
["1:1115210","G/A",null,"PASS","0.52381","30,33",63,99,"0/1","TTLL10","5_prime_UTR_variant","Other","NM_001130045.1","NM_001130045.1:c.199+93G>A",null,"NM_001130045.1,NM_153254.2","5,1",",","TTLL10,TTLL10","NM_001130045.1,NM_153254.2","mRNA,mRNA","mRNA,mRNA","+,+","NP_001123517.1,NP_694986.2","NP_001123517.1,NP_694986.2","254173,254173","26693,26693",",","CCDS44036.1,CCDS8.1",",","inactive polyglycylase TTLL10 isoform 1,inactive polyglycylase TTLL10 isoform 2",",","True","G/A","rs11260546","Has SubmitterLinkOut,In 5' UTR,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","120","SNV","0.6929,0.3071","True","G/A","rs11260546",null,13066,"1538","0.307109",5008,828,355,"246","0.354467",694,130,58,"186","0.140696",1322,154,16,"343","0.350716",978,217,63,"116","0.115308",1006,102,7,"647","0.641865",1008,225,211,"False"]
["1:1115213","G/T",null,"PASS","0.516129","30,32",62,99,"0/1","TTLL10","5_prime_UTR_variant","Other","NM_001130045.1","NM_001130045.1:c.199+96G>T",null,"NM_001130045.1,NM_153254.2","5,1",",","TTLL10,TTLL10","NM_001130045.1,NM_153254.2","mRNA,mRNA","mRNA,mRNA","+,+","NP_001123517.1,NP_694986.2","NP_001123517.1,NP_694986.2","254173,254173","26693,26693",",","CCDS44036.1,CCDS8.1",",","inactive polyglycylase TTLL10 isoform 1,inactive polyglycylase TTLL10 isoform 2",",","True","G/T","rs11260547","Has SubmitterLinkOut,In 5' UTR,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","120","SNV","0.7125,0.2875","True","G/T","rs11260547",null,12961,"1440","0.28754",5008,750,345,"242","0.348703",694,126,58,"91","0.0688351",1322,81,5,"344","0.351738",978,216,64,"116","0.115308",1006,102,7,"647","0.641865",1008,225,211,"False"]
["1:1116231","T/C",null,"PASS","0.483871","16,15",31,99,"0/1","TTLL10","missense_variant","Missense","NM_001130045.1","NM_001130045.1:c.746T>C","NP_001123517.1:p.Val249Ala","NM_001130045.1,NM_153254.2","8,4","36.8447,43.2922","TTLL10,TTLL10","NM_001130045.1,NM_153254.2","mRNA,mRNA","mRNA,mRNA","+,+","NP_001123517.1,NP_694986.2","NP_001123517.1,NP_694986.2","254173,254173","26693,26693",",","CCDS44036.1,CCDS8.1",",","inactive polyglycylase TTLL10 isoform 1,inactive polyglycylase TTLL10 isoform 2",",","True","T/C","rs13374146","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","121","SNV","0.7993,0.2007","True","T/C","rs13374146","EX_TARGET",6083,"1005","0.200679",5008,703,151,"89","0.128242",694,75,7,"559","0.422844",1322,325,117,"237","0.242331",978,185,26,"77","0.0765408",1006,77,0,"43","0.0426587",1008,41,1,"False"]
["1:1132938","G/A",null,"PASS","0.277778","13,5",18,99,"0/1","TTLL10","missense_variant","Missense","NM_001130045.1","NM_001130045.1:c.1733G>A","NP_001123517.1:p.Gly578Asp","NM_001130045.1","16","85.6578","TTLL10","NM_001130045.1","mRNA","mRNA","+","NP_001123517.1","NP_001123517.1","254173","26693",null,"CCDS44036.1",null,"inactive polyglycylase TTLL10 isoform 1",null,"True","G/A","rs2274791","RS orientation is reversed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","100","SNV","0.7518,0.2482","True","G/A","rs2274791",null,5693,"1243","0.248203",5008,641,301,"245","0.353026",694,131,57,"17","0.0128593",1322,17,0,"256","0.261759",978,178,39,"113","0.112326",1006,93,10,"612","0.607143",1008,222,195,"False"]
["1:1133254","G/A",null,"PASS","0.419355","18,13",31,99,"0/1","TTLL10","3_prime_UTR_variant","Other","NM_001130045.1","NM_001130045.1:c.*27G>A",null,"NM_001130045.1","16",null,"TTLL10","NM_001130045.1","mRNA","mRNA","+","NP_001123517.1","NP_001123517.1","254173","26693",null,"CCDS44036.1",null,"inactive polyglycylase TTLL10 isoform 1",null,"True","G/A","rs12026794","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","120","SNV","0.7446,0.2554","True","G/A","rs12026794",null,10303,"1279","0.255391",5008,677,301,"245","0.353026",694,131,57,"53","0.0400908",1322,53,0,"256","0.261759",978,178,39,"113","0.112326",1006,93,10,"612","0.607143",1008,222,195,"False"]
["1:1133273","T/C",null,"PASS","0.423077","15,11",26,99,"0/1","TTLL10","3_prime_UTR_variant","Other","NM_001130045.1","NM_001130045.1:c.*46T>C",null,"NM_001130045.1","16",null,"TTLL10","NM_001130045.1","mRNA","mRNA","+","NP_001123517.1","NP_001123517.1","254173","26693",null,"CCDS44036.1",null,"inactive polyglycylase TTLL10 isoform 1",null,"True","T/C","rs12031928","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","120","SNV","0.4708,0.5292","True","T/C","rs12031928",null,11001,"2650","0.529153",5008,1026,812,"356","0.512968",694,166,95,"709","0.536309",1322,315,197,"447","0.457055",978,259,94,"251","0.249503",1006,185,33,"887","0.87996",1008,101,393,"False"]
["1:1234719","A/G",null,"PASS","0.392405","48,31",79,99,"0/1","ACAP3","splice_region_variant","Other","NM_030649.2","NM_030649.2:c.750+6T>C",null,"NM_030649.2","10",null,"ACAP3","NM_030649.2","mRNA","mRNA","-","NP_085152.2","NP_085152.2","116983","16754",null,"CCDS19.2",null,"arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 3",null,"False",{"$nulls":41},"False"]
["1:1361641","C/T",null,"PASS","0.464286","15,13",28,99,"0/1","TMEM88B","missense_variant","Missense","NM_001146685.1","NM_001146685.1:c.134C>T","NP_001140157.1:p.Pro45Leu","NM_001146685.1","1","27.0325","TMEM88B","NM_001146685.1","mRNA","mRNA","+","NP_001140157.1","NP_001140157.1","643965","37099",null,"CCDS57964.1",null,"transmembrane protein 88B",null,"True","C/T","rs12030806","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","120","SNV","0.3187,0.6813","True","C/T","rs12030806",null,12040,"3412","0.68131",5008,660,1376,"376","0.541787",694,140,118,"1141","0.863086",1322,147,497,"680","0.695297",978,206,237,"218","0.2167",1006,156,31,"997","0.989087",1008,11,493,"False"]
["1:1375810","C/G",null,"PASS","0.478873","37,34",71,99,"0/1","VWA1","3_prime_UTR_variant","Other","NM_022834.4","NM_022834.4:c.*643C>G",null,"NM_199121.2,NM_022834.4","3,3",",","VWA1,VWA1","NM_199121.2,NM_022834.4","mRNA,mRNA","mRNA,mRNA","+,+","NP_954572.2,NP_073745.2","NP_954572.2,NP_073745.2","64856,64856","30910,30910","611901,611901","CCDS28.2,CCDS27.1","18292,18292","von Willebrand factor A domain-containing protein 1 isoform 2 precursor,von Willebrand factor A domain-containing protein 1 isoform 1 precursor",",","True","C/G","rs4590","RS orientation is reversed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","52","SNV","0.4179,0.5821","True","C/G","rs4590",null,13165,"2915","0.582069",5008,839,1038,"324","0.466859",694,148,88,"808","0.611195",1322,296,256,"612","0.625767",978,220,196,"190","0.188867",1006,148,21,"981","0.973214",1008,27,477,"False"]
["1:1376214","C/G",null,"SOR3","0.392857","17,11",28,99,"0/1","VWA1","3_prime_UTR_variant","Other","NM_022834.4","NM_022834.4:c.*1047C>G",null,"NM_199121.2,NM_022834.4","3,3",",","VWA1,VWA1","NM_199121.2,NM_022834.4","mRNA,mRNA","mRNA,mRNA","+,+","NP_954572.2,NP_073745.2","NP_954572.2,NP_073745.2","64856,64856","30910,30910","611901,611901","CCDS28.2,CCDS27.1","18292,18292","von Willebrand factor A domain-containing protein 1 isoform 2 precursor,von Willebrand factor A domain-containing protein 1 isoform 1 precursor",",","True","C/G/T","rs1240698","Has SubmitterLinkOut,In 3' UTR,In 5' gene region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","87","SNV","0.3131,0.6869,","True","C/G","rs1240698",null,18273,"3440","0.686901",5008,640,1400,"385","0.554755",694,149,118,"1175","0.888805",1322,121,527,"672","0.687117",978,206,233,"209","0.207753",1006,155,27,"999","0.991071",1008,9,495,"False"]
["1:1385211","A/G",null,"PASS","0.6","2,3",5,34,"0/1","ATAD3C","5_prime_UTR_variant","Other","NM_001039211.2","NM_001039211.2:c.-853A>G",null,"NM_001039211.2","1",null,"ATAD3C","NM_001039211.2","mRNA","mRNA","+","NP_001034300.2","NP_001034300.2","219293","32151","617227","CCDS44039.1",null,"ATPase family AAA domain-containing protein 3C",null,"True","A/G","rs1312568","Has SubmitterLinkOut,In 5' UTR,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","87","SNV","0.3257,0.6743","True","A/G","rs1312568",null,16605,"3377","0.674321",5008,629,1374,"382","0.550432",694,144,119,"1179","0.891831",1322,119,530,"633","0.647239",978,219,207,"184","0.182903",1006,138,23,"999","0.991071",1008,9,495,"False"]
["1:1386016","A/G",null,"PASS","0.37037","51,30",81,99,"0/1","ATAD3C","5_prime_UTR_variant","Other","NM_001039211.2","NM_001039211.2:c.-48A>G",null,"NM_001039211.2","1",null,"ATAD3C","NM_001039211.2","mRNA","mRNA","+","NP_001034300.2","NP_001034300.2","219293","32151","617227","CCDS44039.1",null,"ATPase family AAA domain-containing protein 3C",null,"True","A/G","rs34301361","RS orientation is reversed,Has SubmitterLinkOut,In 5' UTR,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","126","SNV","0.7274,0.2726","True","A/G","rs34301361",null,17419,"1365","0.272564",5008,903,231,"229","0.329971",694,141,44,"230","0.173979",1322,182,24,"372","0.380368",978,220,76,"149","0.148111",1006,119,15,"385","0.381944",1008,241,72,"False"]
["1:1387764","G/A",null,"PASS","0.534483","54,62",116,99,"0/1","ATAD3C","missense_variant","Missense","NM_001039211.2","NM_001039211.2:c.172G>A","NP_001034300.2:p.Gly58Arg","NM_001039211.2","3","13.835","ATAD3C","NM_001039211.2","mRNA","mRNA","+","NP_001034300.2","NP_001034300.2","219293","32151","617227","CCDS44039.1",null,"ATPase family AAA domain-containing protein 3C",null,"True","G/A","rs9793256","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","119","SNV","0.72,0.28","True","G/A","rs9793256","EX_TARGET",20431,"1402","0.279952",5008,920,241,"230","0.331412",694,138,46,"260","0.196672",1322,198,31,"366","0.374233",978,222,72,"158","0.157058",1006,124,17,"388","0.384921",1008,238,75,"False"]
["1:1391304","T/C",null,"PASS","0.518072","40,43",83,99,"0/1","ATAD3C","splice_region_variant","Other","NM_001039211.2","NM_001039211.2:c.564+8T>C",null,"NM_001039211.2","6",null,"ATAD3C","NM_001039211.2","mRNA","mRNA","+","NP_001034300.2","NP_001034300.2","219293","32151","617227","CCDS44039.1",null,"ATPase family AAA domain-containing protein 3C",null,"True","T/C","rs1695873","RS orientation is reversed,Has SubmitterLinkOut,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","89","SNV","0.5725,0.4275","True","T/C","rs1695873","EX_TARGET",16870,"2141","0.427516",5008,1083,529,"300","0.432277",694,154,73,"705","0.533283",1322,293,206,"441","0.45092",978,233,104,"189","0.187873",1006,139,25,"506","0.501984",1008,264,121,"True","esv3584995","Loss","<CN0>","DEL_union","EX_TARGET","19051","42","0.00838658","5008","40","1","4","0.00576369","694","4","0","13","0.00983359","1322","11","1","10","0.0102249","978","10","0","13","0.0129225","1006","13","0","2","0.00198413","1008","2","0"]
["1:1455577","G/A",null,"PASS","0.393939","60,39",99,99,"0/1","ATAD3A","missense_variant","Missense","NM_018188.3","NM_018188.3:c.715G>A","NP_060658.3:p.Ala239Thr","NM_018188.3,NM_001170535.1,NM_001170536.1","6,6,6","37.4803,32.368,21.8504","ATAD3A,ATAD3A,ATAD3A","NM_018188.3,NM_001170535.1,NM_001170536.1","mRNA,mRNA,mRNA","mRNA,mRNA,mRNA","+,+,+","NP_060658.3,NP_001164006.1,NP_001164007.1","NP_060658.3,NP_001164006.1,NP_001164007.1","55210,55210,55210","25567,25567,25567","612316,612316,612316","CCDS31.1,CCDS53259.1,CCDS53260.1",",,","ATPase family AAA domain-containing protein 3A isoform 1,ATPase family AAA domain-containing protein 3A isoform 2,ATPase family AAA domain-containing protein 3A isoform 3",",,","True","G/A","rs2986576","RS orientation is reversed,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific","101","SNV",{"$nulls":36},"True","esv3585000","Loss","<CN0>","DEL_union","EX_TARGET","16876","1","0.000199681","5008","1","0","0","0","694","0","0","0","0","1322","0","0","1","0.00102249","978","1","0","0","0","1006","0","0","0","0","1008","0","0"]
["1:1469546","G/A",null,"PASS","0.588785","44,63",107,99,"0/1","ATAD3A","3_prime_UTR_variant","Other","NM_018188.3","NM_018188.3:c.*94G>A",null,"NM_018188.3,NM_001170535.1,NM_001170536.1","16,16,16",",,","ATAD3A,ATAD3A,ATAD3A","NM_018188.3,NM_001170535.1,NM_001170536.1","mRNA,mRNA,mRNA","mRNA,mRNA,mRNA","+,+,+","NP_060658.3,NP_001164006.1,NP_001164007.1","NP_060658.3,NP_001164006.1,NP_001164007.1","55210,55210,55210","25567,25567,25567","612316,612316,612316","CCDS31.1,CCDS53259.1,CCDS53260.1",",,","ATPase family AAA domain-containing protein 3A isoform 1,ATPase family AAA domain-containing protein 3A isoform 2,ATPase family AAA domain-containing protein 3A isoform 3",",,","True","G/A","rs3128344","RS orientation is reversed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","103","SNV","0.1615,0.8385","True","G/A","rs3128344","EX_TARGET",12651,"4199","0.838458",5008,619,1790,"581","0.837176",694,101,240,"953","0.720877",1322,251,351,"926","0.94683",978,50,438,"738","0.733598",1006,210,264,"1001","0.993056",1008,7,497,"False"]
["1:1469782","G/C",null,"PASS","0.434783","13,10",23,99,"0/1","ATAD3A","3_prime_UTR_variant","Other","NM_018188.3","NM_018188.3:c.*330G>C",null,"NM_018188.3,NM_001170535.1,NM_001170536.1","16,16,16",",,","ATAD3A,ATAD3A,ATAD3A","NM_018188.3,NM_001170535.1,NM_001170536.1","mRNA,mRNA,mRNA","mRNA,mRNA,mRNA","+,+,+","NP_060658.3,NP_001164006.1,NP_001164007.1","NP_060658.3,NP_001164006.1,NP_001164007.1","55210,55210,55210","25567,25567,25567","612316,612316,612316","CCDS31.1,CCDS53259.1,CCDS53260.1",",,","ATPase family AAA domain-containing protein 3A isoform 1,ATPase family AAA domain-containing protein 3A isoform 2,ATPase family AAA domain-containing protein 3A isoform 3",",,","True","G/C","rs17161064","Has SubmitterLinkOut,In 3' UTR,In 3' gene region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","123","SNV","0.9073,0.09265","True","G/C","rs17161064",null,15610,"464","0.0926518",5008,412,26,"85","0.122478",694,77,4,"49","0.0370651",1322,47,1,"101","0.103272",978,91,5,"97","0.0964215",1006,87,5,"132","0.130952",1008,110,11,"False"]
["1:1534614","T/C",null,"PASS","0.631579","7,12",19,99,"0/1","FNDC10","3_prime_UTR_variant","Other","NM_001242659.1","NM_001242659.1:c.*101A>G",null,"NM_001242659.1","1",null,"FNDC10","NM_001242659.1","mRNA","mRNA","-","NP_001229588.1","NP_001229588.1","643988","42951",null,"CCDS55559.1",null,"fibronectin type III domain-containing protein 10 precursor",null,"True","T/C","rs11552172","RS orientation is reversed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","120","SNV","0.7218,0.2782","True","T/C","rs11552172",null,15226,"1393","0.278155",5008,969,212,"235","0.338617",694,143,46,"259","0.195915",1322,215,22,"381","0.389571",978,231,75,"231","0.229622",1006,177,27,"287","0.284722",1008,203,42,"False"]
["1:1534654","G/A",null,"PASS","0.571429","9,12",21,99,"0/1","FNDC10","3_prime_UTR_variant","Other","NM_001242659.1","NM_001242659.1:c.*61C>T",null,"NM_001242659.1","1",null,"FNDC10","NM_001242659.1","mRNA","mRNA","-","NP_001229588.1","NP_001229588.1","643988","42951",null,"CCDS55559.1",null,"fibronectin type III domain-containing protein 10 precursor",null,"True","G/A","rs534403099","In 3' UTR,Is Assembly specific,Is Validated,1000 Genome phase 3","142","SNV","0.9986,0.001398","True","G/A","rs534403099",null,14790,"7","0.00139776",5008,7,0,"0","0",694,0,0,"6","0.00453858",1322,6,0,"0","0",978,0,0,"1","0.000994036",1006,1,0,"0","0",1008,0,0,"False"]
["1:1551927","T/C",null,"PASS","0.431373","29,22",51,99,"0/1","MIB2","missense_variant","Missense","NM_080875.2","NM_080875.2:c.214T>C","NP_543151.2:p.Phe72Leu","NM_001170686.1,NM_001170688.1,NM_080875.2,NM_001170687.1,NM_001170689.1","2,2,2,2,2","6.65417,7.05765,6.62932,6.71712,","MIB2,MIB2,MIB2,MIB2,MIB2","NM_001170686.1,NM_001170688.1,NM_080875.2,NM_001170687.1,NM_001170689.1","mRNA,mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA,mRNA","+,+,+,+,+","NP_001164157.1,NP_001164159.1,NP_543151.2,NP_001164158.1,NP_001164160.1","NP_001164157.1,NP_001164159.1,NP_543151.2,NP_001164158.1,NP_001164160.1","142678,142678,142678,142678,142678","30577,30577,30577,30577,30577","611141,611141,611141,611141,611141","CCDS53261.1,CCDS53262.1,CCDS41224.2,CCDS53263.1,CCDS53264.1",",,,,","E3 ubiquitin-protein ligase MIB2 isoform 2,E3 ubiquitin-protein ligase MIB2 isoform 4,E3 ubiquitin-protein ligase MIB2 isoform 1,E3 ubiquitin-protein ligase MIB2 isoform 3,E3 ubiquitin-protein ligase MIB2 isoform 5",",,,,","True","T/C","rs7418389","RS orientation is reversed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,In 5' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","116","SNV","0.523,0.477","True","T/C","rs7418389","EX_TARGET",12794,"2389","0.477037",5008,1097,646,"334","0.481268",694,154,90,"711","0.537821",1322,341,185,"427","0.436605",978,225,101,"710","0.705765",1006,208,251,"207","0.205357",1008,169,19,"False"]
["1:1571841","A/C",null,"FS60,SOR3","0.166667","115,23",138,99,"0/1","CDK11B","missense_variant","Missense","NM_001291345.1","NM_001291345.1:c.1653T>G","NP_001278274.1:p.Asp551Glu","NM_033486.2,NM_001291345.1,NM_033487.2,NM_001787.2,NM_033489.2,NM_033490.2","16,16,14,16,17,15","79.4061,79.3468,72.802,79.7837,78.3484,74.6761","CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11B","NM_033486.2,NM_001291345.1,NM_033487.2,NM_001787.2,NM_033489.2,NM_033490.2","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","-,-,-,-,-,-","NP_277021.2,NP_001278274.1,NP_277022.1,NP_001778.2,NP_277024.2,NP_277025.1","NP_277021.2,NP_001278274.1,NP_277022.1,NP_001778.2,NP_277024.2,NP_277025.1","984,984,984,984,984,984","1729,1729,1729,1729,1729,1729","176873,176873,176873,176873,176873,176873","CCDS72684.1,,,CCDS72683.1,CCDS72682.1,",",,,,,","cyclin-dependent kinase 11B isoform 2,cyclin-dependent kinase 11B isoform 10,cyclin-dependent kinase 11B isoform 3,cyclin-dependent kinase 11B isoform 1,cyclin-dependent kinase 11B isoform 5,cyclin-dependent kinase 11B isoform 6",",,,,,","True","A/C","rs150949339","Has 3D structure,Has SubmitterLinkOut,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations","134","SNV",{"$nulls":36},"False"]
["1:1575784","C/T",null,"FS60,MQ40,QD2,SOR3","0.106195","101,12",113,86,"0/1","CDK11B","missense_variant","Missense","NM_001291345.1","NM_001291345.1:c.838G>A","NP_001278274.1:p.Gly280Arg","NM_033486.2,NM_001291345.1,NM_033487.2,NM_001787.2,NM_033489.2,NM_033490.2","9,9,7,9,10,8","40.3736,40.2017,21.2524,41.4669,37.3112,26.6784","CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11B","NM_033486.2,NM_001291345.1,NM_033487.2,NM_001787.2,NM_033489.2,NM_033490.2","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","-,-,-,-,-,-","NP_277021.2,NP_001278274.1,NP_277022.1,NP_001778.2,NP_277024.2,NP_277025.1","NP_277021.2,NP_001278274.1,NP_277022.1,NP_001778.2,NP_277024.2,NP_277025.1","984,984,984,984,984,984","1729,1729,1729,1729,1729,1729","176873,176873,176873,176873,176873,176873","CCDS72684.1,,,CCDS72683.1,CCDS72682.1,",",,,,,","cyclin-dependent kinase 11B isoform 2,cyclin-dependent kinase 11B isoform 10,cyclin-dependent kinase 11B isoform 3,cyclin-dependent kinase 11B isoform 1,cyclin-dependent kinase 11B isoform 5,cyclin-dependent kinase 11B isoform 6",",,,,,","True","C/T","rs200227742","Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations","137","SNV",{"$nulls":36},"False"]
["1:1576477","G/A",null,"MQ40,QD2","0.0958904","66,7",73,4,"0/1","CDK11B","splice_region_variant","Other","NM_001291345.1","NM_001291345.1:c.743-3C>T",null,"NM_033486.2,NM_001291345.1,NM_033487.2,NM_001787.2,NM_033489.2,NM_033490.2","8,8,6,8,9,7",",,,,,","CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11B","NM_033486.2,NM_001291345.1,NM_033487.2,NM_001787.2,NM_033489.2,NM_033490.2","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","-,-,-,-,-,-","NP_277021.2,NP_001278274.1,NP_277022.1,NP_001778.2,NP_277024.2,NP_277025.1","NP_277021.2,NP_001278274.1,NP_277022.1,NP_001778.2,NP_277024.2,NP_277025.1","984,984,984,984,984,984","1729,1729,1729,1729,1729,1729","176873,176873,176873,176873,176873,176873","CCDS72684.1,,,CCDS72683.1,CCDS72682.1,",",,,,,","cyclin-dependent kinase 11B isoform 2,cyclin-dependent kinase 11B isoform 10,cyclin-dependent kinase 11B isoform 3,cyclin-dependent kinase 11B isoform 1,cyclin-dependent kinase 11B isoform 5,cyclin-dependent kinase 11B isoform 6",",,,,,","True","G/A","rs28576122","Is Assembly specific,Is Validated","125","SNV",{"$nulls":36},"False"]
["1:1588717","G/A",null,"PASS","0.378882","200,122",322,99,"0/1","CDK11B","5_prime_UTR_variant","Other","NM_001291345.1","NM_001291345.1:c.111+108C>T",null,"NM_033486.2,NM_001291345.1,NM_033487.2,NM_001787.2,NM_033489.2,NM_033490.2","2,2,2,2,3,2",",,,,,","CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11B","NM_033486.2,NM_001291345.1,NM_033487.2,NM_001787.2,NM_033489.2,NM_033490.2","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","-,-,-,-,-,-","NP_277021.2,NP_001278274.1,NP_277022.1,NP_001778.2,NP_277024.2,NP_277025.1","NP_277021.2,NP_001278274.1,NP_277022.1,NP_001778.2,NP_277024.2,NP_277025.1","984,984,984,984,984,984","1729,1729,1729,1729,1729,1729","176873,176873,176873,176873,176873,176873","CCDS72684.1,,,CCDS72683.1,CCDS72682.1,",",,,,,","cyclin-dependent kinase 11B isoform 2,cyclin-dependent kinase 11B isoform 10,cyclin-dependent kinase 11B isoform 3,cyclin-dependent kinase 11B isoform 1,cyclin-dependent kinase 11B isoform 5,cyclin-dependent kinase 11B isoform 6",",,,,,","True","G/A","rs61774959","Has SubmitterLinkOut,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available","129","SNV",{"$nulls":36},"True","esv3585007","Loss","<CN0>","DEL_union","EX_TARGET","25490","2","0.000399361","5008","2","0","0","0","694","0","0","0","0","1322","0","0","1","0.00102249","978","1","0","0","0","1006","0","0","1","0.000992064","1008","1","0"]
["1:1588737","C/T",null,"PASS","0.389776","191,122",313,99,"0/1","CDK11B","5_prime_UTR_premature_start_codon_gain_variant","Missense","NM_001291345.1","NM_001291345.1:c.111+88G>A",null,"NM_033486.2,NM_001291345.1,NM_033487.2,NM_001787.2,NM_033489.2,NM_033490.2","2,2,2,2,3,2",",,,,,","CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11B","NM_033486.2,NM_001291345.1,NM_033487.2,NM_001787.2,NM_033489.2,NM_033490.2","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","-,-,-,-,-,-","NP_277021.2,NP_001278274.1,NP_277022.1,NP_001778.2,NP_277024.2,NP_277025.1","NP_277021.2,NP_001278274.1,NP_277022.1,NP_001778.2,NP_277024.2,NP_277025.1","984,984,984,984,984,984","1729,1729,1729,1729,1729,1729","176873,176873,176873,176873,176873,176873","CCDS72684.1,,,CCDS72683.1,CCDS72682.1,",",,,,,","cyclin-dependent kinase 11B isoform 2,cyclin-dependent kinase 11B isoform 10,cyclin-dependent kinase 11B isoform 3,cyclin-dependent kinase 11B isoform 1,cyclin-dependent kinase 11B isoform 5,cyclin-dependent kinase 11B isoform 6",",,,,,","True","C/T","rs61776760","Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available","129","SNV",{"$nulls":36},"True","esv3585007","Loss","<CN0>","DEL_union","EX_TARGET","25490","2","0.000399361","5008","2","0","0","0","694","0","0","0","0","1322","0","0","1","0.00102249","978","1","0","0","0","1006","0","0","1","0.000992064","1008","1","0"]
["1:1588743","A/T",null,"PASS","0.378641","192,117",309,99,"0/1","CDK11B","5_prime_UTR_variant","Other","NM_001291345.1","NM_001291345.1:c.111+82T>A",null,"NM_033486.2,NM_001291345.1,NM_033487.2,NM_001787.2,NM_033489.2,NM_033490.2","2,2,2,2,3,2",",,,,,","CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11B","NM_033486.2,NM_001291345.1,NM_033487.2,NM_001787.2,NM_033489.2,NM_033490.2","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","-,-,-,-,-,-","NP_277021.2,NP_001278274.1,NP_277022.1,NP_001778.2,NP_277024.2,NP_277025.1","NP_277021.2,NP_001278274.1,NP_277022.1,NP_001778.2,NP_277024.2,NP_277025.1","984,984,984,984,984,984","1729,1729,1729,1729,1729,1729","176873,176873,176873,176873,176873,176873","CCDS72684.1,,,CCDS72683.1,CCDS72682.1,",",,,,,","cyclin-dependent kinase 11B isoform 2,cyclin-dependent kinase 11B isoform 10,cyclin-dependent kinase 11B isoform 3,cyclin-dependent kinase 11B isoform 1,cyclin-dependent kinase 11B isoform 5,cyclin-dependent kinase 11B isoform 6",",,,,,","True","A/T","rs61776761","Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available","129","SNV",{"$nulls":36},"True","esv3585007","Loss","<CN0>","DEL_union","EX_TARGET","25490","2","0.000399361","5008","2","0","0","0","694","0","0","0","0","1322","0","0","1","0.00102249","978","1","0","0","0","1006","0","0","1","0.000992064","1008","1","0"]
["1:1599812","C/T",null,"MQ40","0.685714","33,72",105,99,"0/1","SLC35E2B","missense_variant","Missense","NM_001110781.2","NM_001110781.2:c.934G>A","NP_001104251.1:p.Val312Ile","NM_001290264.1,NM_001110781.2","9,8","76.601,76.601","SLC35E2B,SLC35E2B","NM_001290264.1,NM_001110781.2","mRNA,mRNA","mRNA,mRNA","-,-","NP_001277193.1,NP_001104251.1","NP_001277193.1,NP_001104251.1","728661,728661","33941,33941",",","CCDS44041.1,CCDS44041.1",",","solute carrier family 35 member E2B,solute carrier family 35 member E2B",",","True","C/T","rs12729295","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1","121","SNV",{"$nulls":36},"True","esv3585007,esv3585008;esv3585009,esv3585008;esv3585009","Loss,Loss,Gain","<CN0>,<CN0>,<CN2>","DEL_union,DUP_gs,DUP_gs","EX_TARGET,EX_TARGET,EX_TARGET","25490,12722,12722","2,9,25","0.000399361,0.00179712,0.00499201","5008,5008,5008","2,9,25","0,0,0","0,1,5","0,0.00144092,0.00720461","694,694,694","0,1,5","0,0,0","0,1,2","0,0.00075643,0.00151286","1322,1322,1322","0,1,2","0,0,0","1,2,3","0.00102249,0.00204499,0.00306748","978,978,978","1,2,3","0,0,0","0,2,4","0,0.00198807,0.00397614","1006,1006,1006","0,2,4","0,0,0","1,3,11","0.000992064,0.00297619,0.0109127","1008,1008,1008","1,3,11","0,0,0"]
["1:1608229","C/T",null,"MQ40","0.5","70,70",140,99,"0/1","SLC35E2B","5_prime_UTR_variant","Other","NM_001110781.2","NM_001110781.2:c.-91G>A",null,"NM_001290264.1,NM_001110781.2","3,2",",","SLC35E2B,SLC35E2B","NM_001290264.1,NM_001110781.2","mRNA,mRNA","mRNA,mRNA","-,-","NP_001277193.1,NP_001104251.1","NP_001277193.1,NP_001104251.1","728661,728661","33941,33941",",","CCDS44041.1,CCDS44041.1",",","solute carrier family 35 member E2B,solute carrier family 35 member E2B",",","True","C/T","rs61776790","In 5' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 3","129","SNV","0.7354,0.2646","True","C/T","rs61776790",null,13683,"1325","0.264577",5008,781,272,"239","0.34438",694,119,60,"131","0.0990923",1322,115,8,"248","0.253579",978,158,45,"489","0.486084",1006,223,133,"218","0.21627",1008,166,26,"True","esv3585007,esv3585008;esv3585009,esv3585008;esv3585009,esv3585010","Loss,Loss,Gain,Loss","<CN0>,<CN0>,<CN2>,<CN0>","DEL_union,DUP_gs,DUP_gs,DEL_union","EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET","25490,12722,12722,16005","2,9,25,3","0.000399361,0.00179712,0.00499201,0.000599042","5008,5008,5008,5008","2,9,25,3","0,0,0,0","0,1,5,0","0,0.00144092,0.00720461,0","694,694,694,694","0,1,5,0","0,0,0,0","0,1,2,1","0,0.00075643,0.00151286,0.00075643","1322,1322,1322,1322","0,1,2,1","0,0,0,0","1,2,3,2","0.00102249,0.00204499,0.00306748,0.00204499","978,978,978,978","1,2,3,2","0,0,0,0","0,2,4,0","0,0.00198807,0.00397614,0","1006,1006,1006,1006","0,2,4,0","0,0,0,0","1,3,11,0","0.000992064,0.00297619,0.0109127,0","1008,1008,1008,1008","1,3,11,0","0,0,0,0"]
["1:1623972","G/A",null,"PASS","0.184874","97,22",119,99,"0/1","SLC35E2B","5_prime_UTR_variant","Other","NM_001110781.2","NM_001110781.2:c.-232C>T",null,"NM_001290264.1,NM_001110781.2","1,1",",","SLC35E2B,SLC35E2B","NM_001290264.1,NM_001110781.2","mRNA,mRNA","mRNA,mRNA","-,-","NP_001277193.1,NP_001104251.1","NP_001277193.1,NP_001104251.1","728661,728661","33941,33941",",","CCDS44041.1,CCDS44041.1",",","solute carrier family 35 member E2B,solute carrier family 35 member E2B",",","False",{"$nulls":41},"True","esv3585007,esv3585010","Loss,Loss","<CN0>,<CN0>","DEL_union,DEL_union","EX_TARGET,EX_TARGET","25490,16005","2,3","0.000399361,0.000599042","5008,5008","2,3","0,0","0,0","0,0","694,694","0,0","0,0","0,1","0,0.00075643","1322,1322","0,1","0,0","1,2","0.00102249,0.00204499","978,978","1,2","0,0","0,0","0,0","1006,1006","0,0","0,0","1,0","0.000992064,0","1008,1008","1,0","0,0"]
["1:1635011","A/G",null,"FS60,SOR3","0.139535","111,18",129,99,"0/1","CDK11A","missense_variant","Missense","NM_001313896.1","NM_001313896.1:c.1973T>C","NP_001300825.1:p.Val658Ala","NM_033529.3,NM_001313896.1,NM_001313982.1,NM_024011.3","18,18,18,18","83.5711,83.8435,83.7607,83.7815","CDK11A,CDK11A,CDK11A,CDK11A","NM_033529.3,NM_001313896.1,NM_001313982.1,NM_024011.3","mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA","-,-,-,-","NP_277071.2,NP_001300825.1,NP_001300911.1,NP_076916.2","NP_277071.2,NP_001300825.1,NP_001300911.1,NP_076916.2","728642,728642,728642,728642","1730,1730,1730,1730","116951,116951,116951,116951","CCDS44043.1,CCDS81253.1,CCDS81254.1,CCDS44042.1",",,,","cyclin-dependent kinase 11A isoform 4,cyclin-dependent kinase 11A isoform 5,cyclin-dependent kinase 11A isoform 3,cyclin-dependent kinase 11A isoform 1",",,,","True","A/G","rs866149312","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 3","147","SNV","0.7258,0.2742","True","A/G","rs1059811","EX_TARGET",11580,"1373","0.274161",5008,449,462,"63","0.0907781",694,49,7,"942","0.712557",1322,162,390,"162","0.165644",978,96,33,"44","0.0437376",1006,36,4,"162","0.160714",1008,106,28,"True","esv3585007,esv3585010,esv3585013,esv3585014;esv3585015,esv3585014;esv3585015","Loss,Loss,Loss,Loss,Gain","<CN0>,<CN0>,<CN0>,<CN0>,<CN2>","DEL_union,DEL_union,DEL_union,DUP_gs,DUP_gs","EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET","25490,16005,15730,19623,19623","2,3,121,200,57","0.000399361,0.000599042,0.0241613,0.0399361,0.0113818","5008,5008,5008,5008,5008","2,3,115,194,55","0,0,3,3,1","0,0,16,29,9","0,0,0.0230548,0.0417867,0.0129683","694,694,694,694,694","0,0,16,29,9","0,0,0,0,0","0,1,20,42,9","0,0.00075643,0.0151286,0.03177,0.00680787","1322,1322,1322,1322,1322","0,1,20,42,9","0,0,0,0,0","1,2,41,52,6","0.00102249,0.00204499,0.0419223,0.0531697,0.00613497","978,978,978,978,978","1,2,37,48,6","0,0,2,2,0","0,0,24,44,24","0,0,0.0238569,0.0437376,0.0238569","1006,1006,1006,1006,1006","0,0,22,42,24","0,0,1,1,0","1,0,20,33,9","0.000992064,0,0.0198413,0.0327381,0.00892857","1008,1008,1008,1008,1008","1,0,20,33,7","0,0,0,0,1"]
["1:1638925","C/T",null,"PASS","0.237762","109,34",143,99,"0/1","CDK11A","missense_variant","Missense","NM_001313896.1","NM_001313896.1:c.1177G>A","NP_001300825.1:p.Asp393Asn","NM_033529.3,NM_001313896.1,NM_001313982.1,NM_024011.3","11,11,11,11","49.1569,50,49.7436,49.8079","CDK11A,CDK11A,CDK11A,CDK11A","NM_033529.3,NM_001313896.1,NM_001313982.1,NM_024011.3","mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA","-,-,-,-","NP_277071.2,NP_001300825.1,NP_001300911.1,NP_076916.2","NP_277071.2,NP_001300825.1,NP_001300911.1,NP_076916.2","728642,728642,728642,728642","1730,1730,1730,1730","116951,116951,116951,116951","CCDS44043.1,CCDS81253.1,CCDS81254.1,CCDS44042.1",",,,","cyclin-dependent kinase 11A isoform 4,cyclin-dependent kinase 11A isoform 5,cyclin-dependent kinase 11A isoform 3,cyclin-dependent kinase 11A isoform 1",",,,","True","C/T","rs200982240","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,1000 Genome phase 3","137","SNV","0.7722,0.2278","True","C/T","rs200982240","EX_TARGET",16575,"1141","0.227835",5008,709,216,"79","0.113833",694,67,6,"589","0.445537",1322,287,151,"199","0.203476",978,141,29,"64","0.0636183",1006,60,2,"210","0.208333",1008,154,28,"True","esv3585007,esv3585010,esv3585013,esv3585014;esv3585015,esv3585014;esv3585015","Loss,Loss,Loss,Loss,Gain","<CN0>,<CN0>,<CN0>,<CN0>,<CN2>","DEL_union,DEL_union,DEL_union,DUP_gs,DUP_gs","EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET","25490,16005,15730,19623,19623","2,3,121,200,57","0.000399361,0.000599042,0.0241613,0.0399361,0.0113818","5008,5008,5008,5008,5008","2,3,115,194,55","0,0,3,3,1","0,0,16,29,9","0,0,0.0230548,0.0417867,0.0129683","694,694,694,694,694","0,0,16,29,9","0,0,0,0,0","0,1,20,42,9","0,0.00075643,0.0151286,0.03177,0.00680787","1322,1322,1322,1322,1322","0,1,20,42,9","0,0,0,0,0","1,2,41,52,6","0.00102249,0.00204499,0.0419223,0.0531697,0.00613497","978,978,978,978,978","1,2,37,48,6","0,0,2,2,0","0,0,24,44,24","0,0,0.0238569,0.0437376,0.0238569","1006,1006,1006,1006,1006","0,0,22,42,24","0,0,1,1,0","1,0,20,33,9","0.000992064,0,0.0198413,0.0327381,0.00892857","1008,1008,1008,1008,1008","1,0,20,33,7","0,0,0,0,1"]
["1:1638994","C/T",null,"PASS","0.201493","107,27",134,99,"0/1","CDK11A","missense_variant","Missense","NM_001313896.1","NM_001313896.1:c.1108G>A","NP_001300825.1:p.Gly370Arg","NM_033529.3,NM_001313896.1,NM_001313982.1,NM_024011.3","11,11,11,11","46.1738,47.0663,46.7949,46.863","CDK11A,CDK11A,CDK11A,CDK11A","NM_033529.3,NM_001313896.1,NM_001313982.1,NM_024011.3","mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA","-,-,-,-","NP_277071.2,NP_001300825.1,NP_001300911.1,NP_076916.2","NP_277071.2,NP_001300825.1,NP_001300911.1,NP_076916.2","728642,728642,728642,728642","1730,1730,1730,1730","116951,116951,116951,116951","CCDS44043.1,CCDS81253.1,CCDS81254.1,CCDS44042.1",",,,","cyclin-dependent kinase 11A isoform 4,cyclin-dependent kinase 11A isoform 5,cyclin-dependent kinase 11A isoform 3,cyclin-dependent kinase 11A isoform 1",",,,","True","C/T","rs6658335","RS orientation is reversed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Has synonymous A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,1000 Genome phase 3","144","SNV","0.6563,0.3437","True","C/T","rs139262276","EX_TARGET",16816,"1721","0.34365",5008,547,587,"97","0.139769",694,77,10,"1163","0.879728",1322,125,519,"208","0.212679",978,148,30,"72","0.0715706",1006,64,4,"181","0.179563",1008,133,24,"True","esv3585007,esv3585010,esv3585013,esv3585014;esv3585015,esv3585014;esv3585015","Loss,Loss,Loss,Loss,Gain","<CN0>,<CN0>,<CN0>,<CN0>,<CN2>","DEL_union,DEL_union,DEL_union,DUP_gs,DUP_gs","EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET","25490,16005,15730,19623,19623","2,3,121,200,57","0.000399361,0.000599042,0.0241613,0.0399361,0.0113818","5008,5008,5008,5008,5008","2,3,115,194,55","0,0,3,3,1","0,0,16,29,9","0,0,0.0230548,0.0417867,0.0129683","694,694,694,694,694","0,0,16,29,9","0,0,0,0,0","0,1,20,42,9","0,0.00075643,0.0151286,0.03177,0.00680787","1322,1322,1322,1322,1322","0,1,20,42,9","0,0,0,0,0","1,2,41,52,6","0.00102249,0.00204499,0.0419223,0.0531697,0.00613497","978,978,978,978,978","1,2,37,48,6","0,0,2,2,0","0,0,24,44,24","0,0,0.0238569,0.0437376,0.0238569","1006,1006,1006,1006,1006","0,0,22,42,24","0,0,1,1,0","1,0,20,33,9","0.000992064,0,0.0198413,0.0327381,0.00892857","1008,1008,1008,1008,1008","1,0,20,33,7","0,0,0,0,1"]
["1:1639687","G/A",null,"MQ40,SOR3","0.231579","73,22",95,99,"0/1","CDK11A","splice_region_variant","Other","NM_001313896.1","NM_001313896.1:c.1013-3C>T",null,"NM_033529.3,NM_001313896.1,NM_001313982.1,NM_024011.3","10,10,10,10",",,,","CDK11A,CDK11A,CDK11A,CDK11A","NM_033529.3,NM_001313896.1,NM_001313982.1,NM_024011.3","mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA","-,-,-,-","NP_277071.2,NP_001300825.1,NP_001300911.1,NP_076916.2","NP_277071.2,NP_001300825.1,NP_001300911.1,NP_076916.2","728642,728642,728642,728642","1730,1730,1730,1730","116951,116951,116951,116951","CCDS44043.1,CCDS81253.1,CCDS81254.1,CCDS44042.1",",,,","cyclin-dependent kinase 11A isoform 4,cyclin-dependent kinase 11A isoform 5,cyclin-dependent kinase 11A isoform 3,cyclin-dependent kinase 11A isoform 1",",,,","True","G/A","rs56409248","Has SubmitterLinkOut,In Intron,Is Assembly specific,5% minor allele frequency in 1+ populations","129","SNV",{"$nulls":36},"True","esv3585007,esv3585010,esv3585013,esv3585014;esv3585015,esv3585014;esv3585015","Loss,Loss,Loss,Loss,Gain","<CN0>,<CN0>,<CN0>,<CN0>,<CN2>","DEL_union,DEL_union,DEL_union,DUP_gs,DUP_gs","EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET","25490,16005,15730,19623,19623","2,3,121,200,57","0.000399361,0.000599042,0.0241613,0.0399361,0.0113818","5008,5008,5008,5008,5008","2,3,115,194,55","0,0,3,3,1","0,0,16,29,9","0,0,0.0230548,0.0417867,0.0129683","694,694,694,694,694","0,0,16,29,9","0,0,0,0,0","0,1,20,42,9","0,0.00075643,0.0151286,0.03177,0.00680787","1322,1322,1322,1322,1322","0,1,20,42,9","0,0,0,0,0","1,2,41,52,6","0.00102249,0.00204499,0.0419223,0.0531697,0.00613497","978,978,978,978,978","1,2,37,48,6","0,0,2,2,0","0,0,24,44,24","0,0,0.0238569,0.0437376,0.0238569","1006,1006,1006,1006,1006","0,0,22,42,24","0,0,1,1,0","1,0,20,33,9","0.000992064,0,0.0198413,0.0327381,0.00892857","1008,1008,1008,1008,1008","1,0,20,33,7","0,0,0,0,1"]
["1:1647778","C/G",null,"PASS","0.253968","141,48",189,99,"0/1","CDK11A","splice_region_variant","Other","NM_001313896.1","NM_001313896.1:c.458+7G>C",null,"NM_033529.3,NM_001313896.1,NM_001313982.1,NM_024011.3","5,5,5,5",",,,","CDK11A,CDK11A,CDK11A,CDK11A","NM_033529.3,NM_001313896.1,NM_001313982.1,NM_024011.3","mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA","-,-,-,-","NP_277071.2,NP_001300825.1,NP_001300911.1,NP_076916.2","NP_277071.2,NP_001300825.1,NP_001300911.1,NP_076916.2","728642,728642,728642,728642","1730,1730,1730,1730","116951,116951,116951,116951","CCDS44043.1,CCDS81253.1,CCDS81254.1,CCDS44042.1",",,,","cyclin-dependent kinase 11A isoform 4,cyclin-dependent kinase 11A isoform 5,cyclin-dependent kinase 11A isoform 3,cyclin-dependent kinase 11A isoform 1",",,,","True","C/A/G","rs72901773","Has SubmitterLinkOut,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1","130","SNV",{"$nulls":36},"True","esv3585010,esv3585013,esv3585014;esv3585015,esv3585014;esv3585015","Loss,Loss,Loss,Gain","<CN0>,<CN0>,<CN0>,<CN2>","DEL_union,DEL_union,DUP_gs,DUP_gs","EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET","16005,15730,19623,19623","3,121,200,57","0.000599042,0.0241613,0.0399361,0.0113818","5008,5008,5008,5008","3,115,194,55","0,3,3,1","0,16,29,9","0,0.0230548,0.0417867,0.0129683","694,694,694,694","0,16,29,9","0,0,0,0","1,20,42,9","0.00075643,0.0151286,0.03177,0.00680787","1322,1322,1322,1322","1,20,42,9","0,0,0,0","2,41,52,6","0.00204499,0.0419223,0.0531697,0.00613497","978,978,978,978","2,37,48,6","0,2,2,0","0,24,44,24","0,0.0238569,0.0437376,0.0238569","1006,1006,1006,1006","0,22,42,24","0,1,1,0","0,20,33,9","0,0.0198413,0.0327381,0.00892857","1008,1008,1008,1008","0,20,33,7","0,0,0,1"]
["1:1650787","T/C",null,"PASS","0.373494","104,62",166,99,"0/1","CDK11A","missense_variant","Missense","NM_001313896.1","NM_001313896.1:c.325+10A>G",null,"NM_033529.3,NM_001313896.1,NM_001313982.1,NM_024011.3","4,4,4,4",",,,14.2552","CDK11A,CDK11A,CDK11A,CDK11A","NM_033529.3,NM_001313896.1,NM_001313982.1,NM_024011.3","mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA","-,-,-,-","NP_277071.2,NP_001300825.1,NP_001300911.1,NP_076916.2","NP_277071.2,NP_001300825.1,NP_001300911.1,NP_076916.2","728642,728642,728642,728642","1730,1730,1730,1730","116951,116951,116951,116951","CCDS44043.1,CCDS81253.1,CCDS81254.1,CCDS44042.1",",,,","cyclin-dependent kinase 11A isoform 4,cyclin-dependent kinase 11A isoform 5,cyclin-dependent kinase 11A isoform 3,cyclin-dependent kinase 11A isoform 1",",,,","True","T/C","rs1137003","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,In 5' UTR,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1","130","SNV",{"$nulls":36},"True","esv3585010,esv3585013,esv3585014;esv3585015,esv3585014;esv3585015","Loss,Loss,Loss,Gain","<CN0>,<CN0>,<CN0>,<CN2>","DEL_union,DEL_union,DUP_gs,DUP_gs","EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET","16005,15730,19623,19623","3,121,200,57","0.000599042,0.0241613,0.0399361,0.0113818","5008,5008,5008,5008","3,115,194,55","0,3,3,1","0,16,29,9","0,0.0230548,0.0417867,0.0129683","694,694,694,694","0,16,29,9","0,0,0,0","1,20,42,9","0.00075643,0.0151286,0.03177,0.00680787","1322,1322,1322,1322","1,20,42,9","0,0,0,0","2,41,52,6","0.00204499,0.0419223,0.0531697,0.00613497","978,978,978,978","2,37,48,6","0,2,2,0","0,24,44,24","0,0.0238569,0.0437376,0.0238569","1006,1006,1006,1006","0,22,42,24","0,1,1,0","0,20,33,9","0,0.0198413,0.0327381,0.00892857","1008,1008,1008,1008","0,20,33,7","0,0,0,1"]
["1:1650797","A/G",null,"PASS","0.406452","92,63",155,99,"0/1","CDK11A","missense_variant","Missense","NM_001313896.1","NM_001313896.1:c.325T>C","NP_001300825.1:p.Trp109Arg","NM_033529.3,NM_001313896.1,NM_001313982.1,NM_024011.3","4,4,4,4","14.0078,13.7755,13.8462,13.8284","CDK11A,CDK11A,CDK11A,CDK11A","NM_033529.3,NM_001313896.1,NM_001313982.1,NM_024011.3","mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA","-,-,-,-","NP_277071.2,NP_001300825.1,NP_001300911.1,NP_076916.2","NP_277071.2,NP_001300825.1,NP_001300911.1,NP_076916.2","728642,728642,728642,728642","1730,1730,1730,1730","116951,116951,116951,116951","CCDS44043.1,CCDS81253.1,CCDS81254.1,CCDS44042.1",",,,","cyclin-dependent kinase 11A isoform 4,cyclin-dependent kinase 11A isoform 5,cyclin-dependent kinase 11A isoform 3,cyclin-dependent kinase 11A isoform 1",",,,","True","A/G","rs1059830","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,In 5' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1","86","SNV",{"$nulls":36},"True","esv3585010,esv3585013,esv3585014;esv3585015,esv3585014;esv3585015","Loss,Loss,Loss,Gain","<CN0>,<CN0>,<CN0>,<CN2>","DEL_union,DEL_union,DUP_gs,DUP_gs","EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET","16005,15730,19623,19623","3,121,200,57","0.000599042,0.0241613,0.0399361,0.0113818","5008,5008,5008,5008","3,115,194,55","0,3,3,1","0,16,29,9","0,0.0230548,0.0417867,0.0129683","694,694,694,694","0,16,29,9","0,0,0,0","1,20,42,9","0.00075643,0.0151286,0.03177,0.00680787","1322,1322,1322,1322","1,20,42,9","0,0,0,0","2,41,52,6","0.00204499,0.0419223,0.0531697,0.00613497","978,978,978,978","2,37,48,6","0,2,2,0","0,24,44,24","0,0.0238569,0.0437376,0.0238569","1006,1006,1006,1006","0,22,42,24","0,1,1,0","0,20,33,9","0,0.0198413,0.0327381,0.00892857","1008,1008,1008,1008","0,20,33,7","0,0,0,1"]
["1:1650832","A/G",null,"PASS","0.43125","91,69",160,99,"0/1","CDK11A","missense_variant","Missense","NM_001313896.1","NM_001313896.1:c.290T>C","NP_001300825.1:p.Val97Ala","NM_033529.3,NM_001313896.1,NM_001313982.1,NM_024011.3","4,4,4,4","12.4946,12.2874,12.3504,12.3346","CDK11A,CDK11A,CDK11A,CDK11A","NM_033529.3,NM_001313896.1,NM_001313982.1,NM_024011.3","mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA","-,-,-,-","NP_277071.2,NP_001300825.1,NP_001300911.1,NP_076916.2","NP_277071.2,NP_001300825.1,NP_001300911.1,NP_076916.2","728642,728642,728642,728642","1730,1730,1730,1730","116951,116951,116951,116951","CCDS44043.1,CCDS81253.1,CCDS81254.1,CCDS44042.1",",,,","cyclin-dependent kinase 11A isoform 4,cyclin-dependent kinase 11A isoform 5,cyclin-dependent kinase 11A isoform 3,cyclin-dependent kinase 11A isoform 1",",,,","True","A/G","rs72909030","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,In 5' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1","130","SNV",{"$nulls":36},"True","esv3585010,esv3585013,esv3585014;esv3585015,esv3585014;esv3585015","Loss,Loss,Loss,Gain","<CN0>,<CN0>,<CN0>,<CN2>","DEL_union,DEL_union,DUP_gs,DUP_gs","EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET","16005,15730,19623,19623","3,121,200,57","0.000599042,0.0241613,0.0399361,0.0113818","5008,5008,5008,5008","3,115,194,55","0,3,3,1","0,16,29,9","0,0.0230548,0.0417867,0.0129683","694,694,694,694","0,16,29,9","0,0,0,0","1,20,42,9","0.00075643,0.0151286,0.03177,0.00680787","1322,1322,1322,1322","1,20,42,9","0,0,0,0","2,41,52,6","0.00204499,0.0419223,0.0531697,0.00613497","978,978,978,978","2,37,48,6","0,2,2,0","0,24,44,24","0,0.0238569,0.0437376,0.0238569","1006,1006,1006,1006","0,22,42,24","0,1,1,0","0,20,33,9","0,0.0198413,0.0327381,0.00892857","1008,1008,1008,1008","0,20,33,7","0,0,0,1"]
["1:1650845","G/A",null,"PASS","0.331288","109,54",163,99,"0/1","CDK11A","missense_variant","Missense","NM_001313896.1","NM_001313896.1:c.277C>T","NP_001300825.1:p.Arg93Trp","NM_033529.3,NM_001313896.1,NM_001313982.1,NM_024011.3","4,4,4,4","11.9326,11.7347,11.7949,11.7798","CDK11A,CDK11A,CDK11A,CDK11A","NM_033529.3,NM_001313896.1,NM_001313982.1,NM_024011.3","mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA","-,-,-,-","NP_277071.2,NP_001300825.1,NP_001300911.1,NP_076916.2","NP_277071.2,NP_001300825.1,NP_001300911.1,NP_076916.2","728642,728642,728642,728642","1730,1730,1730,1730","116951,116951,116951,116951","CCDS44043.1,CCDS81253.1,CCDS81254.1,CCDS44042.1",",,,","cyclin-dependent kinase 11A isoform 4,cyclin-dependent kinase 11A isoform 5,cyclin-dependent kinase 11A isoform 3,cyclin-dependent kinase 11A isoform 1",",,,","True","G/A","rs1059831","Variant is Precious,Links exist to PubMed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,In 5' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","86","SNV","0.2526,0.7474","True","G/A","rs1059831","EX_TARGET",18418,"3743","0.747404",5008,751,1496,"610","0.878963",694,70,270,"660","0.499244",1322,300,180,"761","0.778119",978,151,305,"927","0.921471",1006,69,429,"785","0.77877",1008,161,312,"True","esv3585010,esv3585013,esv3585014;esv3585015,esv3585014;esv3585015","Loss,Loss,Loss,Gain","<CN0>,<CN0>,<CN0>,<CN2>","DEL_union,DEL_union,DUP_gs,DUP_gs","EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET","16005,15730,19623,19623","3,121,200,57","0.000599042,0.0241613,0.0399361,0.0113818","5008,5008,5008,5008","3,115,194,55","0,3,3,1","0,16,29,9","0,0.0230548,0.0417867,0.0129683","694,694,694,694","0,16,29,9","0,0,0,0","1,20,42,9","0.00075643,0.0151286,0.03177,0.00680787","1322,1322,1322,1322","1,20,42,9","0,0,0,0","2,41,52,6","0.00204499,0.0419223,0.0531697,0.00613497","978,978,978,978","2,37,48,6","0,2,2,0","0,24,44,24","0,0.0238569,0.0437376,0.0238569","1006,1006,1006,1006","0,22,42,24","0,1,1,0","0,20,33,9","0,0.0198413,0.0327381,0.00892857","1008,1008,1008,1008","0,20,33,7","0,0,0,1"]
["1:1653028","C/T",null,"PASS","0.588608","65,93",158,99,"0/1","CDK11A","splice_region_variant","Other","NM_001313896.1","NM_001313896.1:c.227+7G>A",null,"NM_033529.3,NM_001313896.1,NM_001313982.1,NM_024011.3","3,3,3,3",",,,","CDK11A,CDK11A,CDK11A,CDK11A","NM_033529.3,NM_001313896.1,NM_001313982.1,NM_024011.3","mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA","-,-,-,-","NP_277071.2,NP_001300825.1,NP_001300911.1,NP_076916.2","NP_277071.2,NP_001300825.1,NP_001300911.1,NP_076916.2","728642,728642,728642,728642","1730,1730,1730,1730","116951,116951,116951,116951","CCDS44043.1,CCDS81253.1,CCDS81254.1,CCDS44042.1",",,,","cyclin-dependent kinase 11A isoform 4,cyclin-dependent kinase 11A isoform 5,cyclin-dependent kinase 11A isoform 3,cyclin-dependent kinase 11A isoform 1",",,,","True","C/T","rs16825265","Has SubmitterLinkOut,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","123","SNV","0.2526,0.7474","True","C/T","rs16825265","EX_TARGET",16028,"3743","0.747404",5008,749,1497,"610","0.878963",694,70,270,"659","0.498487",1322,299,180,"761","0.778119",978,151,305,"928","0.922465",1006,68,430,"785","0.77877",1008,161,312,"True","esv3585010,esv3585013,esv3585014;esv3585015,esv3585014;esv3585015","Loss,Loss,Loss,Gain","<CN0>,<CN0>,<CN0>,<CN2>","DEL_union,DEL_union,DUP_gs,DUP_gs","EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET","16005,15730,19623,19623","3,121,200,57","0.000599042,0.0241613,0.0399361,0.0113818","5008,5008,5008,5008","3,115,194,55","0,3,3,1","0,16,29,9","0,0.0230548,0.0417867,0.0129683","694,694,694,694","0,16,29,9","0,0,0,0","1,20,42,9","0.00075643,0.0151286,0.03177,0.00680787","1322,1322,1322,1322","1,20,42,9","0,0,0,0","2,41,52,6","0.00204499,0.0419223,0.0531697,0.00613497","978,978,978,978","2,37,48,6","0,2,2,0","0,24,44,24","0,0.0238569,0.0437376,0.0238569","1006,1006,1006,1006","0,22,42,24","0,1,1,0","0,20,33,9","0,0.0198413,0.0327381,0.00892857","1008,1008,1008,1008","0,20,33,7","0,0,0,1"]
["1:1662428","A/G",null,"QUAL30","0.666667","1,2",3,1,"0/1","SLC35E2","3_prime_UTR_variant","Other","NM_182838.2","NM_182838.2:c.*1466T>C",null,"NM_001199787.1,NM_182838.2","6,6",",","SLC35E2,SLC35E2","NM_001199787.1,NM_182838.2","mRNA,mRNA","mRNA,mRNA","-,-","NP_001186716.1,NP_878258.1","NP_001186716.1,NP_878258.1","9906,9906","20863,20863",",","CCDS55560.1,CCDS33.1","15374,15374","solute carrier family 35 member E2 isoform 2,solute carrier family 35 member E2 isoform 1",",","True","A/G","rs2281171","Has SubmitterLinkOut,In 3' UTR,In Intron,In 5' gene region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","100","SNV","0.3003,0.6997","True","A/G","rs2281171",null,14771,"3504","0.699681",5008,796,1354,"582","0.838617",694,88,247,"575","0.434947",1322,281,147,"663","0.677914",978,181,241,"913","0.907555",1006,79,417,"771","0.764881",1008,167,302,"True","esv3585010,esv3585013,esv3585014;esv3585015,esv3585014;esv3585015","Loss,Loss,Loss,Gain","<CN0>,<CN0>,<CN0>,<CN2>","DEL_union,DEL_union,DUP_gs,DUP_gs","EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET","16005,15730,19623,19623","3,121,200,57","0.000599042,0.0241613,0.0399361,0.0113818","5008,5008,5008,5008","3,115,194,55","0,3,3,1","0,16,29,9","0,0.0230548,0.0417867,0.0129683","694,694,694,694","0,16,29,9","0,0,0,0","1,20,42,9","0.00075643,0.0151286,0.03177,0.00680787","1322,1322,1322,1322","1,20,42,9","0,0,0,0","2,41,52,6","0.00204499,0.0419223,0.0531697,0.00613497","978,978,978,978","2,37,48,6","0,2,2,0","0,24,44,24","0,0.0238569,0.0437376,0.0238569","1006,1006,1006,1006","0,22,42,24","0,1,1,0","0,20,33,9","0,0.0198413,0.0327381,0.00892857","1008,1008,1008,1008","0,20,33,7","0,0,0,1"]
["1:1663605","A/G",null,"PASS","0.769231","3,10",13,84,"0/1","SLC35E2","3_prime_UTR_variant","Other","NM_182838.2","NM_182838.2:c.*289T>C",null,"NM_001199787.1,NM_182838.2","6,6",",","SLC35E2,SLC35E2","NM_001199787.1,NM_182838.2","mRNA,mRNA","mRNA,mRNA","-,-","NP_001186716.1,NP_878258.1","NP_001186716.1,NP_878258.1","9906,9906","20863,20863",",","CCDS55560.1,CCDS33.1","15374,15374","solute carrier family 35 member E2 isoform 2,solute carrier family 35 member E2 isoform 1",",","True","A/G","rs66653340","Has SubmitterLinkOut,In 3' UTR,In Intron,In 5' gene region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","130","SNV","0.2997,0.7003","True","A/G","rs66653340",null,12997,"3507","0.70028",5008,793,1357,"583","0.840058",694,87,248,"575","0.434947",1322,281,147,"664","0.678937",978,180,242,"913","0.907555",1006,79,417,"772","0.765873",1008,166,303,"True","esv3585010,esv3585013,esv3585014;esv3585015,esv3585014;esv3585015","Loss,Loss,Loss,Gain","<CN0>,<CN0>,<CN0>,<CN2>","DEL_union,DEL_union,DUP_gs,DUP_gs","EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET","16005,15730,19623,19623","3,121,200,57","0.000599042,0.0241613,0.0399361,0.0113818","5008,5008,5008,5008","3,115,194,55","0,3,3,1","0,16,29,9","0,0.0230548,0.0417867,0.0129683","694,694,694,694","0,16,29,9","0,0,0,0","1,20,42,9","0.00075643,0.0151286,0.03177,0.00680787","1322,1322,1322,1322","1,20,42,9","0,0,0,0","2,41,52,6","0.00204499,0.0419223,0.0531697,0.00613497","978,978,978,978","2,37,48,6","0,2,2,0","0,24,44,24","0,0.0238569,0.0437376,0.0238569","1006,1006,1006,1006","0,22,42,24","0,1,1,0","0,20,33,9","0,0.0198413,0.0327381,0.00892857","1008,1008,1008,1008","0,20,33,7","0,0,0,1"]
["1:1663851","G/C",null,"PASS","0.632813","47,81",128,99,"0/1","SLC35E2","3_prime_UTR_variant","Other","NM_182838.2","NM_182838.2:c.*43C>G",null,"NM_001199787.1,NM_182838.2","6,6",",","SLC35E2,SLC35E2","NM_001199787.1,NM_182838.2","mRNA,mRNA","mRNA,mRNA","-,-","NP_001186716.1,NP_878258.1","NP_001186716.1,NP_878258.1","9906,9906","20863,20863",",","CCDS55560.1,CCDS33.1","15374,15374","solute carrier family 35 member E2 isoform 2,solute carrier family 35 member E2 isoform 1",",","True","G/A/C","rs2294486","Has SubmitterLinkOut,In 3' UTR,In Intron,In 5' gene region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","100","SNV","0.6989,,0.3011","True","G/C","rs2294486",null,15690,"1508","0.301118",5008,862,323,"355","0.511527",694,163,96,"65","0.0491679",1322,53,6,"319","0.326176",978,189,65,"426","0.423459",1006,226,100,"343","0.340278",1008,231,56,"True","esv3585010,esv3585013,esv3585014;esv3585015,esv3585014;esv3585015","Loss,Loss,Loss,Gain","<CN0>,<CN0>,<CN0>,<CN2>","DEL_union,DEL_union,DUP_gs,DUP_gs","EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET","16005,15730,19623,19623","3,121,200,57","0.000599042,0.0241613,0.0399361,0.0113818","5008,5008,5008,5008","3,115,194,55","0,3,3,1","0,16,29,9","0,0.0230548,0.0417867,0.0129683","694,694,694,694","0,16,29,9","0,0,0,0","1,20,42,9","0.00075643,0.0151286,0.03177,0.00680787","1322,1322,1322,1322","1,20,42,9","0,0,0,0","2,41,52,6","0.00204499,0.0419223,0.0531697,0.00613497","978,978,978,978","2,37,48,6","0,2,2,0","0,24,44,24","0,0.0238569,0.0437376,0.0238569","1006,1006,1006,1006","0,22,42,24","0,1,1,0","0,20,33,9","0,0.0198413,0.0327381,0.00892857","1008,1008,1008,1008","0,20,33,7","0,0,0,1"]
["1:1663861","G/A",null,"PASS","0.659259","46,89",135,99,"0/1","SLC35E2","3_prime_UTR_variant","Other","NM_182838.2","NM_182838.2:c.*33C>T",null,"NM_001199787.1,NM_182838.2","6,6",",","SLC35E2,SLC35E2","NM_001199787.1,NM_182838.2","mRNA,mRNA","mRNA,mRNA","-,-","NP_001186716.1,NP_878258.1","NP_001186716.1,NP_878258.1","9906,9906","20863,20863",",","CCDS55560.1,CCDS33.1","15374,15374","solute carrier family 35 member E2 isoform 2,solute carrier family 35 member E2 isoform 1",",","True","G/A","rs2294487","Has SubmitterLinkOut,In 3' UTR,In Intron,In 5' gene region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","100","SNV","0.6989,0.3011","True","G/A","rs2294487",null,16021,"1508","0.301118",5008,862,323,"356","0.512968",694,164,96,"65","0.0491679",1322,53,6,"318","0.325153",978,188,65,"426","0.423459",1006,226,100,"343","0.340278",1008,231,56,"True","esv3585010,esv3585013,esv3585014;esv3585015,esv3585014;esv3585015","Loss,Loss,Loss,Gain","<CN0>,<CN0>,<CN0>,<CN2>","DEL_union,DEL_union,DUP_gs,DUP_gs","EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET","16005,15730,19623,19623","3,121,200,57","0.000599042,0.0241613,0.0399361,0.0113818","5008,5008,5008,5008","3,115,194,55","0,3,3,1","0,16,29,9","0,0.0230548,0.0417867,0.0129683","694,694,694,694","0,16,29,9","0,0,0,0","1,20,42,9","0.00075643,0.0151286,0.03177,0.00680787","1322,1322,1322,1322","1,20,42,9","0,0,0,0","2,41,52,6","0.00204499,0.0419223,0.0531697,0.00613497","978,978,978,978","2,37,48,6","0,2,2,0","0,24,44,24","0,0.0238569,0.0437376,0.0238569","1006,1006,1006,1006","0,22,42,24","0,1,1,0","0,20,33,9","0,0.0198413,0.0327381,0.00892857","1008,1008,1008,1008","0,20,33,7","0,0,0,1"]
["1:1666175","C/T",null,"MQ40","0.239024","156,49",205,99,"0/1","SLC35E2","missense_variant","Missense","NM_182838.2","NM_182838.2:c.686G>A","NP_878258.1:p.Arg229His","NM_001199787.1,NM_182838.2","6,5","92.4426,85.5181","SLC35E2,SLC35E2","NM_001199787.1,NM_182838.2","mRNA,mRNA","mRNA,mRNA","-,-","NP_001186716.1,NP_878258.1","NP_001186716.1,NP_878258.1","9906,9906","20863,20863",",","CCDS55560.1,CCDS33.1","15374,15374","solute carrier family 35 member E2 isoform 2,solute carrier family 35 member E2 isoform 1",",","True","C/T","rs61777509","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,In 3' gene region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,1000 Genome phase 1","129","SNV",{"$nulls":36},"True","esv3585010,esv3585013,esv3585014;esv3585015,esv3585014;esv3585015","Loss,Loss,Loss,Gain","<CN0>,<CN0>,<CN0>,<CN2>","DEL_union,DEL_union,DUP_gs,DUP_gs","EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET","16005,15730,19623,19623","3,121,200,57","0.000599042,0.0241613,0.0399361,0.0113818","5008,5008,5008,5008","3,115,194,55","0,3,3,1","0,16,29,9","0,0.0230548,0.0417867,0.0129683","694,694,694,694","0,16,29,9","0,0,0,0","1,20,42,9","0.00075643,0.0151286,0.03177,0.00680787","1322,1322,1322,1322","1,20,42,9","0,0,0,0","2,41,52,6","0.00204499,0.0419223,0.0531697,0.00613497","978,978,978,978","2,37,48,6","0,2,2,0","0,24,44,24","0,0.0238569,0.0437376,0.0238569","1006,1006,1006,1006","0,22,42,24","0,1,1,0","0,20,33,9","0,0.0198413,0.0327381,0.00892857","1008,1008,1008,1008","0,20,33,7","0,0,0,1"]
["1:1666251","G/A",null,"FS60,MQ40","0.405941","120,82",202,99,"0/1","SLC35E2","missense_variant","Missense","NM_182838.2","NM_182838.2:c.610C>T","NP_878258.1:p.Arg204Trp","NM_001199787.1,NM_182838.2","6,5","82.1862,76.03","SLC35E2,SLC35E2","NM_001199787.1,NM_182838.2","mRNA,mRNA","mRNA,mRNA","-,-","NP_001186716.1,NP_878258.1","NP_001186716.1,NP_878258.1","9906,9906","20863,20863",",","CCDS55560.1,CCDS33.1","15374,15374","solute carrier family 35 member E2 isoform 2,solute carrier family 35 member E2 isoform 1",",","True","G/A","rs77655487","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available","131","SNV",{"$nulls":36},"True","esv3585010,esv3585013,esv3585014;esv3585015,esv3585014;esv3585015","Loss,Loss,Loss,Gain","<CN0>,<CN0>,<CN0>,<CN2>","DEL_union,DEL_union,DUP_gs,DUP_gs","EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET","16005,15730,19623,19623","3,121,200,57","0.000599042,0.0241613,0.0399361,0.0113818","5008,5008,5008,5008","3,115,194,55","0,3,3,1","0,16,29,9","0,0.0230548,0.0417867,0.0129683","694,694,694,694","0,16,29,9","0,0,0,0","1,20,42,9","0.00075643,0.0151286,0.03177,0.00680787","1322,1322,1322,1322","1,20,42,9","0,0,0,0","2,41,52,6","0.00204499,0.0419223,0.0531697,0.00613497","978,978,978,978","2,37,48,6","0,2,2,0","0,24,44,24","0,0.0238569,0.0437376,0.0238569","1006,1006,1006,1006","0,22,42,24","0,1,1,0","0,20,33,9","0,0.0198413,0.0327381,0.00892857","1008,1008,1008,1008","0,20,33,7","0,0,0,1"]
["1:1683420","A/T",null,"MQ40,SOR3","0.245283","40,13",53,99,"0/1","NADK","3_prime_UTR_variant","Other","NM_001198994.1","NM_001198994.1:c.*923T>A",null,"NM_001198995.1,NM_023018.4,NM_001198993.1,NM_001198994.1","10,12,12,14",",,,","NADK,NADK,NADK,NADK","NM_001198995.1,NM_023018.4,NM_001198993.1,NM_001198994.1","mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA","-,-,-,-","NP_001185924.1,NP_075394.3,NP_001185922.1,NP_001185923.1","NP_001185924.1,NP_075394.3,NP_001185922.1,NP_001185923.1","65220,65220,65220,65220","29831,29831,29831,29831","611616,611616,611616,611616","CCDS55561.1,CCDS30565.1,CCDS30565.1,CCDS55562.1","16907,16907,16907,16907","NAD kinase isoform 3,NAD kinase isoform 1,NAD kinase isoform 1,NAD kinase isoform 2",",,,","True","A/T","rs8841","RS orientation is reversed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 3","52","SNV","0.6963,0.3037","True","A/T","rs8841",null,16484,"1521","0.303714",5008,933,294,"365","0.525937",694,177,94,"58","0.0438729",1322,54,2,"338","0.345603",978,218,60,"415","0.412525",1006,239,88,"345","0.342262",1008,245,50,"False"]
["1:1683900","G/A",null,"PASS","0.481481","14,13",27,99,"0/1","NADK","3_prime_UTR_variant","Other","NM_001198994.1","NM_001198994.1:c.*443C>T",null,"NM_001198995.1,NM_023018.4,NM_001198993.1,NM_001198994.1","10,12,12,14",",,,","NADK,NADK,NADK,NADK","NM_001198995.1,NM_023018.4,NM_001198993.1,NM_001198994.1","mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA","-,-,-,-","NP_001185924.1,NP_075394.3,NP_001185922.1,NP_001185923.1","NP_001185924.1,NP_075394.3,NP_001185922.1,NP_001185923.1","65220,65220,65220,65220","29831,29831,29831,29831","611616,611616,611616,611616","CCDS55561.1,CCDS30565.1,CCDS30565.1,CCDS55562.1","16907,16907,16907,16907","NAD kinase isoform 3,NAD kinase isoform 1,NAD kinase isoform 1,NAD kinase isoform 2",",,,","True","G/A","rs1062090","RS orientation is reversed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","86","SNV","0.6743,0.3257","True","G/A","rs1062090",null,17906,"1631","0.325679",5008,945,343,"388","0.559078",694,174,107,"62","0.0468986",1322,58,2,"347","0.354806",978,217,65,"489","0.486084",1006,249,120,"345","0.342262",1008,247,49,"False"]
["1:1684169","C/G",null,"PASS","0.480519","40,37",77,99,"0/1","NADK","3_prime_UTR_variant","Other","NM_001198994.1","NM_001198994.1:c.*174G>C",null,"NM_001198995.1,NM_023018.4,NM_001198993.1,NM_001198994.1","10,12,12,14",",,,","NADK,NADK,NADK,NADK","NM_001198995.1,NM_023018.4,NM_001198993.1,NM_001198994.1","mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA","-,-,-,-","NP_001185924.1,NP_075394.3,NP_001185922.1,NP_001185923.1","NP_001185924.1,NP_075394.3,NP_001185922.1,NP_001185923.1","65220,65220,65220,65220","29831,29831,29831,29831","611616,611616,611616,611616","CCDS55561.1,CCDS30565.1,CCDS30565.1,CCDS55562.1","16907,16907,16907,16907","NAD kinase isoform 3,NAD kinase isoform 1,NAD kinase isoform 1,NAD kinase isoform 2",",,,","True","C/G","rs7796","RS orientation is reversed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","52","SNV","0.6737,0.3263","True","C/G","rs7796",null,16135,"1634","0.326278",5008,944,345,"388","0.559078",694,174,107,"62","0.0468986",1322,58,2,"347","0.354806",978,217,65,"489","0.486084",1006,249,120,"348","0.345238",1008,246,51,"False"]
["1:1846582","A/G",null,"PASS","0.405405","22,15",37,99,"0/1","CALML6","5_prime_UTR_variant","Other","NM_138705.3","NM_138705.3:c.-138A>G",null,"NM_001330313.1,NM_138705.3","1,1",",","CALML6,CALML6","NM_001330313.1,NM_138705.3","mRNA,mRNA","mRNA,mRNA","+,+","NP_001317242.1,NP_619650.2","NP_001317242.1,NP_619650.2","163688,163688","24193,24193","610171,610171","CCDS81255.1,CCDS30566.1",",","calmodulin-like protein 6 isoform 2,calmodulin-like protein 6 isoform 1",",","True","A/G","rs2748987","RS orientation is reversed,Has SubmitterLinkOut,In 5' UTR,In 5' gene region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","100","SNV","0.1562,0.8438","True","A/G","rs2748987",null,19166,"4226","0.84385",5008,614,1806,"583","0.840058",694,101,241,"1258","0.951589",1322,60,599,"769","0.786299",978,143,313,"795","0.790258",1006,161,317,"821","0.814484",1008,149,336,"False"]
["1:1849529","A/G",null,"PASS","0.552941","38,47",85,99,"0/1","TMEM52","missense_variant","Missense","NM_178545.3","NM_178545.3:c.422T>C","NP_848640.1:p.Met141Thr","NM_178545.3","5","66.8254","TMEM52","NM_178545.3","mRNA","mRNA","-","NP_848640.1","NP_848640.1","339456","27916",null,"CCDS35.1","14166","transmembrane protein 52 precursor",null,"True","A/G/T","rs28640257","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","125","SNV","0.648,0.352,","True","A/G","rs28640257","EX_TARGET",19495,"1763","0.352037",5008,983,390,"352","0.507205",694,184,84,"70","0.0529501",1322,64,3,"382","0.390593",978,212,85,"493","0.49006",1006,247,123,"466","0.462302",1008,276,95,"False"]
["1:1861582","C/T",null,"PASS","0.409091","39,27",66,99,"0/1","CFAP74","missense_variant","Missense","NM_001304360.1","NM_001304360.1:c.3205G>A","NP_001291289.1:p.Gly1069Arg","NM_001304360.1","26","65.1219","CFAP74","NM_001304360.1","mRNA","mRNA","-","NP_001291289.1","NP_001291289.1","85452","29368",{"$nulls":3},"cilia- and flagella-associated protein 74",null,"True","C/T","rs2803295","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","100","SNV","0.6442,0.3558","True","C/T","rs2803295",null,18173,"1782","0.355831",5008,988,397,"349","0.502882",694,185,82,"76","0.0574887",1322,68,4,"384","0.392638",978,216,84,"494","0.491054",1006,246,124,"479","0.475198",1008,273,103,"False"]
["1:1873525","T/C",null,"PASS","0.492308","66,64",130,99,"0/1","CFAP74","missense_variant","Missense","NM_001304360.1","NM_001304360.1:c.2557A>G","NP_001291289.1:p.Lys853Glu","NM_001304360.1","22","51.9512","CFAP74","NM_001304360.1","mRNA","mRNA","-","NP_001291289.1","NP_001291289.1","85452","29368",{"$nulls":3},"cilia- and flagella-associated protein 74",null,"True","T/C","rs2803327","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","100","SNV","0.4075,0.5925","True","T/C","rs2803327",null,17123,"2967","0.592452",5008,1201,883,"424","0.610951",694,172,126,"724","0.547655",1322,344,190,"642","0.656442",978,198,222,"534","0.530815",1006,250,142,"643","0.637897",1008,237,203,"False"]
["1:1875858","C/G",null,"PASS","0.52","36,39",75,99,"0/1","CFAP74","missense_variant","Missense","NM_001304360.1","NM_001304360.1:c.2398G>C","NP_001291289.1:p.Val800Leu","NM_001304360.1","21","48.7195","CFAP74","NM_001304360.1","mRNA","mRNA","-","NP_001291289.1","NP_001291289.1","85452","29368",{"$nulls":3},"cilia- and flagella-associated protein 74",null,"True","C/G","rs2803336","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","100","SNV","0.615,0.385","True","C/G","rs2803336",null,16263,"1928","0.384984",5008,1062,433,"357","0.514409",694,177,90,"191","0.144478",1322,165,13,"399","0.407975",978,203,98,"498","0.49503",1006,250,124,"483","0.479167",1008,267,108,"False"]
["1:1900186","T/C",null,"PASS","0.436782","49,38",87,99,"0/1","CFAP74","missense_variant","Missense","NM_001304360.1","NM_001304360.1:c.1133A>G","NP_001291289.1:p.Lys378Arg","NM_001304360.1","11","23.0081","CFAP74","NM_001304360.1","mRNA","mRNA","-","NP_001291289.1","NP_001291289.1","85452","29368",{"$nulls":3},"cilia- and flagella-associated protein 74",null,"True","T/C","rs35269416","RS orientation is reversed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","126","SNV","0.846,0.154","True","T/C","rs35269416","EX_TARGET",19340,"771","0.153954",5008,623,74,"152","0.21902",694,124,14,"112","0.0847201",1322,102,5,"201","0.205521",978,147,27,"195","0.193837",1006,155,20,"111","0.110119",1008,95,8,"False"]
["1:2118339","A/G",null,"PASS","0.5","14,14",28,99,"0/1","FAAP20","5_prime_UTR_variant","Other","NM_001146310.1","NM_001146310.1:c.458-1387T>C",null,"NM_001282673.1,NM_001282672.1,NM_001256945.1,NM_001282671.1,NM_001146310.1","4,5,3,6,8",",,,,","FAAP20,FAAP20,FAAP20,FAAP20,FAAP20","NM_001282673.1,NM_001282672.1,NM_001256945.1,NM_001282671.1,NM_001146310.1","mRNA,mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA,mRNA","-,-,-,-,-","NP_001269602.1,NP_001269601.1,NP_001243874.1,NP_001269600.1,NP_001139782.1","NP_001269602.1,NP_001269601.1,NP_001243874.1,NP_001269600.1,NP_001139782.1","199990,199990,199990,199990,199990","26428,26428,26428,26428,26428","615183,615183,615183,615183,615183","CCDS72687.1,,CCDS72686.1,,",",,,,","Fanconi anemia core complex-associated protein 20 isoform 8,Fanconi anemia core complex-associated protein 20 isoform 7,Fanconi anemia core complex-associated protein 20 isoform 3,Fanconi anemia core complex-associated protein 20 isoform 7,Fanconi anemia core complex-associated protein 20 isoform 1",",,,,","True","A/G","rs262685","RS orientation is reversed,Has SubmitterLinkOut,In 5' UTR,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","79","SNV","0.618,0.382","True","A/G","rs262685",null,17975,"1913","0.381989",5008,1139,387,"297","0.427954",694,157,70,"537","0.406203",1322,309,114,"415","0.424335",978,233,91,"391","0.388668",1006,227,82,"273","0.270833",1008,213,30,"False"]
["1:2118359","A/G",null,"SOR3","0.545455","15,18",33,99,"0/1","FAAP20","5_prime_UTR_variant","Other","NM_001146310.1","NM_001146310.1:c.458-1407T>C",null,"NM_001282673.1,NM_001282672.1,NM_001256945.1,NM_001282671.1,NM_001146310.1","4,5,3,6,8",",,,,","FAAP20,FAAP20,FAAP20,FAAP20,FAAP20","NM_001282673.1,NM_001282672.1,NM_001256945.1,NM_001282671.1,NM_001146310.1","mRNA,mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA,mRNA","-,-,-,-,-","NP_001269602.1,NP_001269601.1,NP_001243874.1,NP_001269600.1,NP_001139782.1","NP_001269602.1,NP_001269601.1,NP_001243874.1,NP_001269600.1,NP_001139782.1","199990,199990,199990,199990,199990","26428,26428,26428,26428,26428","615183,615183,615183,615183,615183","CCDS72687.1,,CCDS72686.1,,",",,,,","Fanconi anemia core complex-associated protein 20 isoform 8,Fanconi anemia core complex-associated protein 20 isoform 7,Fanconi anemia core complex-associated protein 20 isoform 3,Fanconi anemia core complex-associated protein 20 isoform 7,Fanconi anemia core complex-associated protein 20 isoform 1",",,,,","True","A/G","rs262684","RS orientation is reversed,Has SubmitterLinkOut,In 5' UTR,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","79","SNV","0.6182,0.3818","True","A/G","rs262684",null,17877,"1912","0.381789",5008,1138,387,"297","0.427954",694,157,70,"538","0.406959",1322,308,115,"414","0.423313",978,234,90,"391","0.388668",1006,227,82,"272","0.269841",1008,212,30,"False"]
["1:2118539","T/C",null,"PASS","0.580153","55,76",131,99,"0/1","FAAP20","5_prime_UTR_variant","Other","NM_001146310.1","NM_001146310.1:c.458-1587A>G",null,"NM_001282673.1,NM_001282672.1,NM_001256945.1,NM_001282671.1,NM_001146310.1","4,5,3,6,8",",,,,","FAAP20,FAAP20,FAAP20,FAAP20,FAAP20","NM_001282673.1,NM_001282672.1,NM_001256945.1,NM_001282671.1,NM_001146310.1","mRNA,mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA,mRNA","-,-,-,-,-","NP_001269602.1,NP_001269601.1,NP_001243874.1,NP_001269600.1,NP_001139782.1","NP_001269602.1,NP_001269601.1,NP_001243874.1,NP_001269600.1,NP_001139782.1","199990,199990,199990,199990,199990","26428,26428,26428,26428,26428","615183,615183,615183,615183,615183","CCDS72687.1,,CCDS72686.1,,",",,,,","Fanconi anemia core complex-associated protein 20 isoform 8,Fanconi anemia core complex-associated protein 20 isoform 7,Fanconi anemia core complex-associated protein 20 isoform 3,Fanconi anemia core complex-associated protein 20 isoform 7,Fanconi anemia core complex-associated protein 20 isoform 1",",,,,","True","T/C","rs2503699","Has SubmitterLinkOut,In 5' UTR,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","100","SNV","0.1428,0.8572","True","T/C","rs2503699",null,11781,"4293","0.857228",5008,535,1879,"565","0.814121",694,99,233,"1263","0.955371",1322,57,603,"845","0.864008",978,115,365,"679","0.67495",1006,201,239,"941","0.933532",1008,63,439,"False"]
["1:2121118","C/T",null,"PASS","0.466667","48,42",90,99,"0/1","FAAP20","3_prime_UTR_variant","Other","NM_001282670.1","NM_001282670.1:c.*30G>A",null,"NM_001282673.1,NM_001282672.1,NM_001256945.1,NM_001282671.1,NM_001146310.1,NM_001256947.1,NM_182533.2,NM_001282670.1","3,4,2,5,7,3,4,8",",,,,,,,","FAAP20,FAAP20,FAAP20,FAAP20,FAAP20,FAAP20,FAAP20,FAAP20","NM_001282673.1,NM_001282672.1,NM_001256945.1,NM_001282671.1,NM_001146310.1,NM_001256947.1,NM_182533.2,NM_001282670.1","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","-,-,-,-,-,-,-,-","NP_001269602.1,NP_001269601.1,NP_001243874.1,NP_001269600.1,NP_001139782.1,NP_001243876.1,NP_872339.2,NP_001269599.1","NP_001269602.1,NP_001269601.1,NP_001243874.1,NP_001269600.1,NP_001139782.1,NP_001243876.1,NP_872339.2,NP_001269599.1","199990,199990,199990,199990,199990,199990,199990,199990","26428,26428,26428,26428,26428,26428,26428,26428","615183,615183,615183,615183,615183,615183,615183,615183","CCDS72687.1,,CCDS72686.1,,,CCDS57965.1,CCDS38.2,",",,,,,,,","Fanconi anemia core complex-associated protein 20 isoform 8,Fanconi anemia core complex-associated protein 20 isoform 7,Fanconi anemia core complex-associated protein 20 isoform 3,Fanconi anemia core complex-associated protein 20 isoform 7,Fanconi anemia core complex-associated protein 20 isoform 1,Fanconi anemia core complex-associated protein 20 isoform 5,Fanconi anemia core complex-associated protein 20 isoform 2,Fanconi anemia core complex-associated protein 20 isoform 6",",,,,,,,","True","C/T","rs2503701","Has SubmitterLinkOut,In 3' UTR,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","100","SNV","0.2979,0.7021","True","C/T","rs2503701","EX_TARGET",9620,"3516","0.702077",5008,964,1276,"448","0.645533",694,154,147,"765","0.578669",1322,333,216,"820","0.838446",978,128,346,"612","0.60835",1006,230,191,"871","0.864087",1008,119,376,"False"]
["1:2125172","G/A",null,"PASS","0.522222","43,47",90,99,"0/1","FAAP20","missense_variant","Missense","NM_001282670.1","NM_001282670.1:c.685C>T","NP_001269599.1:p.Pro229Ser","NM_001282673.1,NM_001282672.1,NM_001256945.1,NM_001282671.1,NM_001146310.1,NM_001256947.1,NM_182533.2,NM_001282670.1,NM_001256946.1","3,3,2,3,7,2,3,7,3","73.0994,,41.9298,,52.2367,70.5015,69.0608,80.2817,63.7755","FAAP20,FAAP20,FAAP20,FAAP20,FAAP20,FAAP20,FAAP20,FAAP20,FAAP20","NM_001282673.1,NM_001282672.1,NM_001256945.1,NM_001282671.1,NM_001146310.1,NM_001256947.1,NM_182533.2,NM_001282670.1,NM_001256946.1","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","-,-,-,-,-,-,-,-,-","NP_001269602.1,NP_001269601.1,NP_001243874.1,NP_001269600.1,NP_001139782.1,NP_001243876.1,NP_872339.2,NP_001269599.1,NP_001243875.1","NP_001269602.1,NP_001269601.1,NP_001243874.1,NP_001269600.1,NP_001139782.1,NP_001243876.1,NP_872339.2,NP_001269599.1,NP_001243875.1","199990,199990,199990,199990,199990,199990,199990,199990,199990","26428,26428,26428,26428,26428,26428,26428,26428,26428","615183,615183,615183,615183,615183,615183,615183,615183,615183","CCDS72687.1,,CCDS72686.1,,,CCDS57965.1,CCDS38.2,,",",,,,,,,,","Fanconi anemia core complex-associated protein 20 isoform 8,Fanconi anemia core complex-associated protein 20 isoform 7,Fanconi anemia core complex-associated protein 20 isoform 3,Fanconi anemia core complex-associated protein 20 isoform 7,Fanconi anemia core complex-associated protein 20 isoform 1,Fanconi anemia core complex-associated protein 20 isoform 5,Fanconi anemia core complex-associated protein 20 isoform 2,Fanconi anemia core complex-associated protein 20 isoform 6,Fanconi anemia core complex-associated protein 20 isoform 4",",,,,,,,,","True","G/A","rs1058411","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Has synonymous A coding region,In 5' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","86","SNV","0.7921,0.2079","True","G/A","rs1058411","EX_TARGET",12708,"1041","0.207867",5008,643,199,"58","0.0835735",694,54,2,"698","0.527988",1322,342,178,"122","0.124744",978,102,10,"101","0.100398",1006,87,7,"62","0.0615079",1008,58,2,"False"]
["1:2252759","A/G",null,"PASS","0.541667","11,13",24,99,"0/1","MORN1","3_prime_UTR_variant","Other","NM_024848.2","NM_024848.2:c.*63T>C",null,"NM_024848.2","14",null,"MORN1","NM_024848.2","mRNA","mRNA","-","NP_079124.1","NP_079124.1","79906","25852",null,"CCDS40.1","07843","MORN repeat-containing protein 1 isoform 1",null,"True","A/G","rs35513983","RS orientation is reversed,Has SubmitterLinkOut,In 3' UTR,In 3' gene region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","126","SNV","0.5164,0.4836","True","A/G","rs35513983",null,16634,"2422","0.483626",5008,1136,643,"237","0.341499",694,157,40,"873","0.660363",1322,299,287,"567","0.579755",978,233,167,"317","0.315109",1006,207,55,"428","0.424603",1008,240,94,"False"]
["1:2338015","T/C",null,"PASS","0.45","33,27",60,99,"0/1","PEX10","missense_variant","Missense","NM_153818.1","NM_153818.1:c.880A>G","NP_722540.1:p.Thr294Ala","NM_002617.3,NM_153818.1","5,5","83.4862,84.438","PEX10,PEX10","NM_002617.3,NM_153818.1","mRNA,mRNA","mRNA,mRNA","-,-","NP_002608.1,NP_722540.1","NP_002608.1,NP_722540.1","5192,5192","8851,8851","602859,602859","CCDS44045.1,CCDS41.1","04175,04175","peroxisome biogenesis factor 10 isoform 2,peroxisome biogenesis factor 10 isoform 1",",","True","T/C","rs34154371","RS orientation is reversed,Variant is Precious,Links exist to PubMed,Has 3D structure,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3,Submitted from a locus-specific database","126","SNV","0.9914,0.008586","True","T/C","rs34154371","EX_TARGET",16987,"43","0.00858626",5008,39,2,"9","0.0129683",694,7,1,"2","0.00151286",1322,2,0,"9","0.00920245",978,7,1,"23","0.0228628",1006,23,0,"0","0",1008,0,0,"False",{"$nulls":36},"T/C","197887","Likely Benign","Benign/Likely Benign","Benign/Likely benign (3),Benign (1)","(2 Stars) Criteria Provided, Multiple Submitters, No Conflicts","rs34154371","PEX10","5192","NC_000001.10:g.2338015T>C","NC_000001.11:g.2406576T>C","NM_153818.1:c.880A>G","NP_722540.1:p.Thr294Ala","RCV000179027,RCV000538777","not specified,Peroxisome biogenesis disorder, complementation group 7","Benign/Likely Benign,Benign","(2 Stars) Criteria Provided, Multiple Submitters, No Conflicts,(1 Stars) Criteria Provided, Single Submitter","2016-03-29,2017-06-09"]
["1:2433986","G/A",null,"PASS","0.354839","20,11",31,99,"0/1","PLCH2","missense_variant","Missense","NM_014638.3","NM_014638.3:c.2959+138G>A",null,"NM_001303012.1,NM_001303013.1,NM_014638.3","21,21,21","88.938,,","PLCH2,PLCH2,PLCH2","NM_001303012.1,NM_001303013.1,NM_014638.3","mRNA,mRNA,mRNA","mRNA,mRNA,mRNA","+,+,+","NP_001289941.1,NP_001289942.1,NP_055453.2","NP_001289941.1,NP_001289942.1,NP_055453.2","9651,9651,9651","29037,29037,29037","612836,612836,612836",",,CCDS59959.1",",,","1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-2 isoform 2,1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-2 isoform 3,1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-2 isoform 1",",,","True","G/A","rs765311142","Has non-synonymous missense A coding region,Has reference A coding region,In Intron,Is Assembly specific","144","SNV",{"$nulls":36},"False"]
["1:3697291","C/T",null,"PASS","0.75","1,3",4,24,"0/1","LRRC47","3_prime_UTR_variant","Other","NM_020710.2","NM_020710.2:c.*361G>A",null,"NM_020710.2","7",null,"LRRC47","NM_020710.2","mRNA","mRNA","-","NP_065761.1","NP_065761.1","57470","29207",null,"CCDS51.1","13837","leucine-rich repeat-containing protein 47",null,"True","C/T","rs2996428","RS orientation is reversed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","101","SNV","0.8766,0.1234","True","C/T","rs2996428",null,16770,"618","0.123403",5008,508,55,"91","0.131124",694,75,8,"169","0.127837",1322,145,12,"140","0.143149",978,118,11,"216","0.214712",1006,168,24,"2","0.00198413",1008,2,0,"True","esv3585042","Gain","<CN2>","DUP_delly","IMPRECISE,EX_TARGET","29070","2","0.000399361","5008","2","0","0","0","694","0","0","1","0.00075643","1322","1","0","1","0.00102249","978","1","0","0","0","1006","0","0","0","0","1008","0","0"]
["1:3745924","G/A",null,"PASS","0.507937","62,64",126,99,"0/1","CEP104","missense_variant","Missense","NM_014704.3","NM_014704.3:c.2057C>T","NP_055519.1:p.Ala686Val","NM_014704.3","15","74.0101","CEP104","NM_014704.3","mRNA","mRNA","-","NP_055519.1","NP_055519.1","9731","24866","616690","CCDS30571.1","11091","centrosomal protein of 104 kDa",null,"True","G/A","rs2275831","RS orientation is reversed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","100","SNV","0.7895,0.2105","True","G/A","rs2275831","EX_TARGET",17124,"1054","0.210463",5008,664,195,"91","0.131124",694,73,9,"106","0.0801815",1322,104,1,"276","0.282209",978,184,46,"56","0.055666",1006,54,1,"525","0.520833",1008,249,138,"True","esv3585042,esv3585052","Gain,Gain","<CN2>,<CN2>","DUP_delly,DUP_gs","IMPRECISE,EX_TARGET,EX_TARGET","29070,18617","2,2","0.000399361,0.000399361","5008,5008","2,2","0,0","0,0","0,0","694,694","0,0","0,0","1,1","0.00075643,0.00075643","1322,1322","1,1","0,0","1,1","0.00102249,0.00102249","978,978","1,1","0,0","0,0","0,0","1006,1006","0,0","0,0","0,0","0,0","1008,1008","0,0","0,0"]
["1:3747603","T/C",null,"PASS","0.472973","39,35",74,99,"0/1","CEP104","splice_region_variant","Other","NM_014704.3","NM_014704.3:c.1836+7A>G",null,"NM_014704.3","13",null,"CEP104","NM_014704.3","mRNA","mRNA","-","NP_055519.1","NP_055519.1","9731","24866","616690","CCDS30571.1","11091","centrosomal protein of 104 kDa",null,"True","T/C","rs6413779","Has SubmitterLinkOut,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","116","SNV","0.2105,0.7895","True","T/C","rs6413779","EX_TARGET",15969,"3954","0.789537",5008,664,1645,"603","0.868876",694,73,265,"1216","0.919818",1322,104,556,"702","0.717791",978,184,259,"950","0.944334",1006,54,448,"483","0.479167",1008,249,117,"True","esv3585042,esv3585052","Gain,Gain","<CN2>,<CN2>","DUP_delly,DUP_gs","IMPRECISE,EX_TARGET,EX_TARGET","29070,18617","2,2","0.000399361,0.000399361","5008,5008","2,2","0,0","0,0","0,0","694,694","0,0","0,0","1,1","0.00075643,0.00075643","1322,1322","1,1","0,0","1,1","0.00102249,0.00102249","978,978","1,1","0,0","0,0","0,0","1006,1006","0,0","0,0","0,0","0,0","1008,1008","0,0","0,0"]
["1:3773718","A/G",null,"PASS","0.6","2,3",5,57,"0/1","CEP104","5_prime_UTR_variant","Other","NM_014704.3","NM_014704.3:c.-280T>C",null,"NM_014704.3","1",null,"CEP104","NM_014704.3","mRNA","mRNA","-","NP_055519.1","NP_055519.1","9731","24866","616690","CCDS30571.1","11091","centrosomal protein of 104 kDa",null,"True","A/G","rs4648428","Has SubmitterLinkOut,In 5' UTR,In 5' gene region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","111","SNV","0.1979,0.8021","True","A/G","rs4648428",null,9834,"4017","0.802117",5008,643,1687,"602","0.867435",694,74,264,"1236","0.934947",1322,86,575,"734","0.750511",978,176,279,"948","0.942346",1006,56,446,"497","0.493056",1008,251,123,"True","esv3585042,esv3585052","Gain,Gain","<CN2>,<CN2>","DUP_delly,DUP_gs","IMPRECISE,EX_TARGET,EX_TARGET","29070,18617","2,2","0.000399361,0.000399361","5008,5008","2,2","0,0","0,0","0,0","694,694","0,0","0,0","1,1","0.00075643,0.00075643","1322,1322","1,1","0,0","1,1","0.00102249,0.00102249","978,978","1,1","0,0","0,0","0,0","1006,1006","0,0","0,0","0,0","0,0","1008,1008","0,0","0,0"]
["1:3800454","T/C",null,"PASS","0.454545","12,10",22,99,"0/1","DFFB","3_prime_UTR_variant","Other","NM_001282669.1","NM_001282669.1:c.*149T>C",null,"NM_001282669.1,NM_001320132.1,NM_004402.3,NM_001320136.1","7,7,7,7",",,,","DFFB,DFFB,DFFB,DFFB","NM_001282669.1,NM_001320132.1,NM_004402.3,NM_001320136.1","mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA","+,+,+,+","NP_001269598.1,NP_001307061.1,NP_004393.1,NP_001307065.1","NP_001269598.1,NP_001307061.1,NP_004393.1,NP_001307065.1","1677,1677,1677,1677","2773,2773,2773,2773","601883,601883,601883,601883","CCDS72693.1,,CCDS52.1,","03532,03532,03532,03532","DNA fragmentation factor subunit beta isoform 1,DNA fragmentation factor subunit beta isoform 4,DNA fragmentation factor subunit beta isoform 2,DNA fragmentation factor subunit beta isoform 5",",,,","False",{"$nulls":41},"True","esv3585042,esv3585052","Gain,Gain","<CN2>,<CN2>","DUP_delly,DUP_gs","IMPRECISE,EX_TARGET,EX_TARGET","29070,18617","2,2","0.000399361,0.000399361","5008,5008","2,2","0,0","0,0","0,0","694,694","0,0","0,0","1,1","0.00075643,0.00075643","1322,1322","1,1","0,0","1,1","0.00102249,0.00102249","978,978","1,1","0,0","0,0","0,0","1006,1006","0,0","0,0","0,0","0,0","1008,1008","0,0","0,0"]
["1:3800480","G/T",null,"PASS","0.25","9,3",12,41,"0/1","DFFB","3_prime_UTR_variant","Other","NM_001282669.1","NM_001282669.1:c.*175G>T",null,"NM_001282669.1,NM_001320132.1,NM_004402.3,NM_001320136.1","7,7,7,7",",,,","DFFB,DFFB,DFFB,DFFB","NM_001282669.1,NM_001320132.1,NM_004402.3,NM_001320136.1","mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA","+,+,+,+","NP_001269598.1,NP_001307061.1,NP_004393.1,NP_001307065.1","NP_001269598.1,NP_001307061.1,NP_004393.1,NP_001307065.1","1677,1677,1677,1677","2773,2773,2773,2773","601883,601883,601883,601883","CCDS72693.1,,CCDS52.1,","03532,03532,03532,03532","DNA fragmentation factor subunit beta isoform 1,DNA fragmentation factor subunit beta isoform 4,DNA fragmentation factor subunit beta isoform 2,DNA fragmentation factor subunit beta isoform 5",",,,","True","G/T","rs7555538","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","116","SNV","0.6444,0.3556","True","G/T","rs7555538",null,18681,"1781","0.355631",5008,1163,309,"227","0.327089",694,135,46,"410","0.310136",1322,286,62,"380","0.388548",978,240,70,"413","0.410537",1006,265,74,"351","0.348214",1008,237,57,"True","esv3585042,esv3585052","Gain,Gain","<CN2>,<CN2>","DUP_delly,DUP_gs","IMPRECISE,EX_TARGET,EX_TARGET","29070,18617","2,2","0.000399361,0.000399361","5008,5008","2,2","0,0","0,0","0,0","694,694","0,0","0,0","1,1","0.00075643,0.00075643","1322,1322","1,1","0,0","1,1","0.00102249,0.00102249","978,978","1,1","0,0","0,0","0,0","1006,1006","0,0","0,0","0,0","0,0","1008,1008","0,0","0,0"]
["1:3806074","G/A",null,"PASS","0.6","2,3",5,64,"0/1","C1orf174","3_prime_UTR_variant","Other","NM_207356.2","NM_207356.2:c.*450C>T",null,"NM_207356.2","4",null,"C1orf174","NM_207356.2","mRNA","mRNA","-","NP_997239.2","NP_997239.2","339448","27915",null,"CCDS53.1",null,"UPF0688 protein C1orf174",null,"True","G/A","rs4075974","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","108","SNV","0.3223,0.6777","True","G/A","rs4075974",null,15190,"3394","0.677716",5008,1060,1167,"435","0.626801",694,155,140,"1012","0.765507",1322,246,383,"604","0.617587",978,214,195,"724","0.719682",1006,206,259,"619","0.614087",1008,239,190,"True","esv3585042,esv3585052","Gain,Gain","<CN2>,<CN2>","DUP_delly,DUP_gs","IMPRECISE,EX_TARGET,EX_TARGET","29070,18617","2,2","0.000399361,0.000399361","5008,5008","2,2","0,0","0,0","0,0","694,694","0,0","0,0","1,1","0.00075643,0.00075643","1322,1322","1,1","0,0","1,1","0.00102249,0.00102249","978,978","1,1","0,0","0,0","0,0","1006,1006","0,0","0,0","0,0","0,0","1008,1008","0,0","0,0"]
["1:3806336","A/C",null,"PASS","0.48","26,24",50,99,"0/1","C1orf174","3_prime_UTR_variant","Other","NM_207356.2","NM_207356.2:c.*188T>G",null,"NM_207356.2","4",null,"C1orf174","NM_207356.2","mRNA","mRNA","-","NP_997239.2","NP_997239.2","339448","27915",null,"CCDS53.1",null,"UPF0688 protein C1orf174",null,"False",{"$nulls":41},"True","esv3585042,esv3585052","Gain,Gain","<CN2>,<CN2>","DUP_delly,DUP_gs","IMPRECISE,EX_TARGET,EX_TARGET","29070,18617","2,2","0.000399361,0.000399361","5008,5008","2,2","0,0","0,0","0,0","694,694","0,0","0,0","1,1","0.00075643,0.00075643","1322,1322","1,1","0,0","1,1","0.00102249,0.00102249","978,978","1,1","0,0","0,0","0,0","1006,1006","0,0","0,0","0,0","0,0","1008,1008","0,0","0,0"]
["1:6111757","G/A",null,"PASS","0.55814","19,24",43,99,"0/1","KCNAB2","missense_variant","Missense","NM_001199862.1","NM_001199862.1:c.161G>A","NP_001186791.1:p.Arg54His","NM_001199861.1,NM_172130.2,NM_003636.3,NM_001199860.1,NM_001199862.1,NM_001199863.1","3,2,3,3,2,1",",,,,12.8205,","KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2","NM_001199861.1,NM_172130.2,NM_003636.3,NM_001199860.1,NM_001199862.1,NM_001199863.1","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","+,+,+,+,+,+","NP_001186790.1,NP_742128.1,NP_003627.1,NP_001186789.1,NP_001186791.1,NP_001186792.1","NP_001186790.1,NP_742128.1,NP_003627.1,NP_001186789.1,NP_001186791.1,NP_001186792.1","8514,8514,8514,8514,8514,8514","6229,6229,6229,6229,6229,6229","601142,601142,601142,601142,601142,601142","CCDS55.1,CCDS56.1,CCDS55.1,CCDS55.1,CCDS55570.1,CCDS55571.1","03090,03090,03090,03090,03090,03090","voltage-gated potassium channel subunit beta-2 isoform 1,voltage-gated potassium channel subunit beta-2 isoform 2,voltage-gated potassium channel subunit beta-2 isoform 1,voltage-gated potassium channel subunit beta-2 isoform 1,voltage-gated potassium channel subunit beta-2 isoform 3,voltage-gated potassium channel subunit beta-2 isoform 4",",,,,,","True","G/A","rs11589347","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,In Intron,Is Assembly specific,Is Validated,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","120","SNV","0.9834,0.01657","True","G/A","rs11589347",null,15833,"83","0.0165735",5008,81,1,"26","0.037464",694,24,1,"1","0.00075643",1322,1,0,"9","0.00920245",978,9,0,"46","0.0457256",1006,46,0,"1","0.000992064",1008,1,0,"False"]
["1:6453623","C/T",null,"PASS","0.666667","1,2",3,23,"0/1","ACOT7","5_prime_UTR_variant","Other","NM_007274.3","NM_007274.3:c.-164G>A",null,"NM_007274.3","1",null,"ACOT7","NM_007274.3","mRNA","mRNA","-","NP_009205.3","NP_009205.3","11332","24157","602587","CCDS30573.1",null,"cytosolic acyl coenzyme A thioester hydrolase isoform hBACHa",null,"True","C/T","rs56933792","Has SubmitterLinkOut,In 5' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","129","SNV","0.857,0.143","True","C/T","rs56933792",null,5437,"716","0.142971",5008,548,84,"63","0.0907781",694,59,2,"434","0.32829",1322,298,68,"124","0.126789",978,106,9,"75","0.0745527",1006,65,5,"20","0.0198413",1008,20,0,"False"]
["1:6479925","A/T",null,"PASS","0.285714","20,8",28,99,"0/1","HES2","5_prime_UTR_variant","Other","NM_019089.4","NM_019089.4:c.-45T>A",null,"NM_019089.4","1",null,"HES2","NM_019089.4","mRNA","mRNA","-","NP_061962.2","NP_061962.2","54626","16005","609970","CCDS30574.1","13649","transcription factor HES-2",null,"True","A/T","rs112408380","Has SubmitterLinkOut,In 5' UTR,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","132","SNV","0.9319,0.06809","True","A/T","rs112408380",null,8255,"341","0.0680911",5008,305,18,"38","0.054755",694,38,0,"159","0.120272",1322,139,10,"86","0.0879346",978,72,7,"58","0.0576541",1006,56,1,"0","0",1008,0,0,"False"]
["1:6479938","A/G",null,"PASS","0.344828","19,10",29,99,"0/1","HES2","5_prime_UTR_variant","Other","NM_019089.4","NM_019089.4:c.-58T>C",null,"NM_019089.4","1",null,"HES2","NM_019089.4","mRNA","mRNA","-","NP_061962.2","NP_061962.2","54626","16005","609970","CCDS30574.1","13649","transcription factor HES-2",null,"True","A/G","rs12074131","Has SubmitterLinkOut,In 5' UTR,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","120","SNV","0.8405,0.1595","True","A/G","rs12074131",null,8288,"799","0.159545",5008,629,85,"74","0.106628",694,64,5,"346","0.261725",1322,252,47,"137","0.140082",978,115,11,"92","0.0914513",1006,82,5,"150","0.14881",1008,116,17,"False"]
["1:6520312","C/T",null,"PASS","0.477477","58,53",111,99,"0/1","ESPN","3_prime_UTR_variant","Other","NM_031475.2","NM_031475.2:c.*106C>T",null,"NM_031475.2","13",null,"ESPN","NM_031475.2","mRNA","mRNA","+","NP_113663.2","NP_113663.2","83715","13281","606351","CCDS70.1",null,"espin",null,"True","C/T","rs3138158","RS orientation is reversed,Has SubmitterLinkOut,In 3' UTR,In 3' gene region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","104","SNV","0.9708,0.02915","True","C/T","rs3138158",null,10455,"146","0.0291534",5008,138,4,"20","0.0288184",694,20,0,"9","0.00680787",1322,9,0,"22","0.0224949",978,22,0,"94","0.0934394",1006,86,4,"1","0.000992064",1008,1,0,"False"]
["1:6526183","G/A",null,"PASS","0.666667","7,14",21,99,"0/1","PLEKHG5,TNFRSF25","3_prime_UTR_variant","Other","NM_020631.4,NM_148965.1","NM_020631.4:c.*1440C>T,NM_148965.1:c.-16C>T",",","NM_148965.1,NM_003790.2,NM_148966.1,NM_148967.1,NM_148970.1,NM_001039664.1,NM_001265593.1,NM_001042665.1,NM_001042664.1,NM_001265594.1,NM_020631.4,NM_001265592.1,NM_001042663.1,NM_198681.3","1,1,1,1,1,1,21,21,21,22,21,22,22,22",",,,,,,,,,,,,,","TNFRSF25,TNFRSF25,TNFRSF25,TNFRSF25,TNFRSF25,TNFRSF25,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5","NM_148965.1,NM_003790.2,NM_148966.1,NM_148967.1,NM_148970.1,NM_001039664.1,NM_001265593.1,NM_001042665.1,NM_001042664.1,NM_001265594.1,NM_020631.4,NM_001265592.1,NM_001042663.1,NM_198681.3","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","-,-,-,-,-,-,-,-,-,-,-,-,-,-","NP_683866.1,NP_003781.1,NP_683867.1,NP_683868.1,NP_683871.1,NP_001034753.1,NP_001252522.1,NP_001036130.1,NP_001036129.1,NP_001252523.1,NP_065682.2,NP_001252521.1,NP_001036128.1,NP_941374.2","NP_683866.1,NP_003781.1,NP_683867.1,NP_683868.1,NP_683871.1,NP_001034753.1,NP_001252522.1,NP_001036130.1,NP_001036129.1,NP_001252523.1,NP_065682.2,NP_001252521.1,NP_001036128.1,NP_941374.2","8718,8718,8718,8718,8718,8718,57449,57449,57449,57449,57449,57449,57449,57449","11910,11910,11910,11910,11910,11910,29105,29105,29105,29105,29105,29105,29105,29105","603366,603366,603366,603366,603366,603366,611101,611101,611101,611101,611101,611101,611101,611101","CCDS72.1,CCDS71.1,CCDS73.1,CCDS74.1,CCDS75.1,,CCDS57968.1,CCDS79.1,CCDS79.1,CCDS57967.1,CCDS79.1,CCDS57969.1,CCDS41241.1,CCDS41240.1","04532,04532,04532,04532,04532,04532,,,,,,,,","tumor necrosis factor receptor superfamily member 25 isoform 1 precursor,tumor necrosis factor receptor superfamily member 25 isoform 2 precursor,tumor necrosis factor receptor superfamily member 25 isoform 3 precursor,tumor necrosis factor receptor superfamily member 25 isoform 4 precursor,tumor necrosis factor receptor superfamily member 25 isoform 7 precursor,tumor necrosis factor receptor superfamily member 25 isoform 12 precursor,pleckstrin homology domain-containing family G member 5 isoform e,pleckstrin homology domain-containing family G member 5 isoform a,pleckstrin homology domain-containing family G member 5 isoform a,pleckstrin homology domain-containing family G member 5 isoform f,pleckstrin homology domain-containing family G member 5 isoform a,pleckstrin homology domain-containing family G member 5 isoform d,pleckstrin homology domain-containing family G member 5 isoform c,pleckstrin homology domain-containing family G member 5 isoform b",",,,,,,,,,,,,,","True","G/A","rs3007417","Has SubmitterLinkOut,Has reference A coding region,Has synonymous A coding region,In 3' UTR,In 5' UTR,In 5' gene region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","101","SNV","0.7977,0.2023","True","G/A","rs3007417","EX_TARGET",9493,"1013","0.202276",5008,517,248,"63","0.0907781",694,59,2,"784","0.593041",1322,314,235,"92","0.0940695",978,76,8,"73","0.0725646",1006,67,3,"1","0.000992064",1008,1,0,"False",{"$nulls":36},"G/A","297904","Benign","Benign","Benign (1)","(1 Stars) Criteria Provided, Single Submitter","rs3007417","TNFRSF25,PLEKHG5","8718,57449","NC_000001.10:g.6526183G>A","NC_000001.11:g.6466123G>A","NM_020631.4:c.*1440C>T",null,"RCV000399468","Distal spinal muscular atrophy","Benign","(1 Stars) Criteria Provided, Single Submitter","2016-06-14"]
["1:6526633","G/A",null,"PASS","0.6","4,6",10,94,"0/1","PLEKHG5","3_prime_UTR_variant","Other","NM_020631.4","NM_020631.4:c.*990C>T",null,"NM_001265593.1,NM_001042665.1,NM_001042664.1,NM_001265594.1,NM_020631.4,NM_001265592.1,NM_001042663.1,NM_198681.3","21,21,21,22,21,22,22,22",",,,,,,,","PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5","NM_001265593.1,NM_001042665.1,NM_001042664.1,NM_001265594.1,NM_020631.4,NM_001265592.1,NM_001042663.1,NM_198681.3","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","-,-,-,-,-,-,-,-","NP_001252522.1,NP_001036130.1,NP_001036129.1,NP_001252523.1,NP_065682.2,NP_001252521.1,NP_001036128.1,NP_941374.2","NP_001252522.1,NP_001036130.1,NP_001036129.1,NP_001252523.1,NP_065682.2,NP_001252521.1,NP_001036128.1,NP_941374.2","57449,57449,57449,57449,57449,57449,57449,57449","29105,29105,29105,29105,29105,29105,29105,29105","611101,611101,611101,611101,611101,611101,611101,611101","CCDS57968.1,CCDS79.1,CCDS79.1,CCDS57967.1,CCDS79.1,CCDS57969.1,CCDS41241.1,CCDS41240.1",",,,,,,,","pleckstrin homology domain-containing family G member 5 isoform e,pleckstrin homology domain-containing family G member 5 isoform a,pleckstrin homology domain-containing family G member 5 isoform a,pleckstrin homology domain-containing family G member 5 isoform f,pleckstrin homology domain-containing family G member 5 isoform a,pleckstrin homology domain-containing family G member 5 isoform d,pleckstrin homology domain-containing family G member 5 isoform c,pleckstrin homology domain-containing family G member 5 isoform b",",,,,,,,","True","G/A","rs3007418","Has SubmitterLinkOut,In 3' UTR,In 5' UTR,In 5' gene region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","101","SNV","0.7989,0.2011","True","G/A","rs3007418",null,11968,"1007","0.201078",5008,513,247,"63","0.0907781",694,59,2,"787","0.59531",1322,319,234,"93","0.095092",978,77,8,"63","0.0626243",1006,57,3,"1","0.000992064",1008,1,0,"False",{"$nulls":36},"G/A","297916","Benign","Benign","Benign (1)","(1 Stars) Criteria Provided, Single Submitter","rs3007418","PLEKHG5","57449","NC_000001.10:g.6526633G>A","NC_000001.11:g.6466573G>A","NM_020631.4:c.*990C>T",null,"RCV000289591","Distal spinal muscular atrophy","Benign","(1 Stars) Criteria Provided, Single Submitter","2016-06-14"]
["1:6527333","A/G",null,"PASS","0.494505","46,45",91,99,"0/1","PLEKHG5","3_prime_UTR_variant","Other","NM_020631.4","NM_020631.4:c.*290T>C",null,"NM_001265593.1,NM_001042665.1,NM_001042664.1,NM_001265594.1,NM_020631.4,NM_001265592.1,NM_001042663.1,NM_198681.3","21,21,21,22,21,22,22,22",",,,,,,,","PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5","NM_001265593.1,NM_001042665.1,NM_001042664.1,NM_001265594.1,NM_020631.4,NM_001265592.1,NM_001042663.1,NM_198681.3","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","-,-,-,-,-,-,-,-","NP_001252522.1,NP_001036130.1,NP_001036129.1,NP_001252523.1,NP_065682.2,NP_001252521.1,NP_001036128.1,NP_941374.2","NP_001252522.1,NP_001036130.1,NP_001036129.1,NP_001252523.1,NP_065682.2,NP_001252521.1,NP_001036128.1,NP_941374.2","57449,57449,57449,57449,57449,57449,57449,57449","29105,29105,29105,29105,29105,29105,29105,29105","611101,611101,611101,611101,611101,611101,611101,611101","CCDS57968.1,CCDS79.1,CCDS79.1,CCDS57967.1,CCDS79.1,CCDS57969.1,CCDS41241.1,CCDS41240.1",",,,,,,,","pleckstrin homology domain-containing family G member 5 isoform e,pleckstrin homology domain-containing family G member 5 isoform a,pleckstrin homology domain-containing family G member 5 isoform a,pleckstrin homology domain-containing family G member 5 isoform f,pleckstrin homology domain-containing family G member 5 isoform a,pleckstrin homology domain-containing family G member 5 isoform d,pleckstrin homology domain-containing family G member 5 isoform c,pleckstrin homology domain-containing family G member 5 isoform b",",,,,,,,","True","A/G","rs14708","RS orientation is reversed,Has SubmitterLinkOut,In 3' UTR,In 5' UTR,In 5' gene region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","52","SNV","0.733,0.267","True","A/G","rs14708",null,16491,"1337","0.266973",5008,645,346,"101","0.145533",694,83,9,"901","0.681543",1322,279,311,"178","0.182004",978,142,18,"148","0.147117",1006,132,8,"9","0.00892857",1008,9,0,"False",{"$nulls":36},"A/G","297928","Benign","Benign","Benign (1)","(1 Stars) Criteria Provided, Single Submitter","rs14708","PLEKHG5","57449","NC_000001.10:g.6527333A>G","NC_000001.11:g.6467273A>G","NM_020631.4:c.*290T>C",null,"RCV000311319","Distal spinal muscular atrophy","Benign","(1 Stars) Criteria Provided, Single Submitter","2016-06-14"]
["1:6531589","C/T",null,"PASS","0.4375","9,7",16,99,"0/1","PLEKHG5","missense_variant","Missense","NM_020631.4","NM_020631.4:c.1240G>A","NP_065682.2:p.Ala414Thr","NM_001265593.1,NM_001042665.1,NM_001042664.1,NM_001265594.1,NM_020631.4,NM_001265592.1,NM_001042663.1,NM_198681.3","12,12,12,12,12,13,13,13","44.7955,41.0129,41.0129,44.3609,41.0129,45.3039,44.1204,45.203","PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5","NM_001265593.1,NM_001042665.1,NM_001042664.1,NM_001265594.1,NM_020631.4,NM_001265592.1,NM_001042663.1,NM_198681.3","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","-,-,-,-,-,-,-,-","NP_001252522.1,NP_001036130.1,NP_001036129.1,NP_001252523.1,NP_065682.2,NP_001252521.1,NP_001036128.1,NP_941374.2","NP_001252522.1,NP_001036130.1,NP_001036129.1,NP_001252523.1,NP_065682.2,NP_001252521.1,NP_001036128.1,NP_941374.2","57449,57449,57449,57449,57449,57449,57449,57449","29105,29105,29105,29105,29105,29105,29105,29105","611101,611101,611101,611101,611101,611101,611101,611101","CCDS57968.1,CCDS79.1,CCDS79.1,CCDS57967.1,CCDS79.1,CCDS57969.1,CCDS41241.1,CCDS41240.1",",,,,,,,","pleckstrin homology domain-containing family G member 5 isoform e,pleckstrin homology domain-containing family G member 5 isoform a,pleckstrin homology domain-containing family G member 5 isoform a,pleckstrin homology domain-containing family G member 5 isoform f,pleckstrin homology domain-containing family G member 5 isoform a,pleckstrin homology domain-containing family G member 5 isoform d,pleckstrin homology domain-containing family G member 5 isoform c,pleckstrin homology domain-containing family G member 5 isoform b",",,,,,,,","True","C/T","rs74809741","Has 3D structure,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),1000 Genome phase 1,1000 Genome phase 3","131","SNV","0.9447,0.05531","True","C/T","rs74809741","EX_TARGET",12520,"277","0.0553115",5008,261,8,"35","0.0504323",694,35,0,"125","0.0945537",1322,115,5,"61","0.0623722",978,59,1,"56","0.055666",1006,52,2,"0","0",1008,0,0,"False",{"$nulls":36},"C/T","297959","Likely Benign","Likely Benign","Likely benign (1)","(1 Stars) Criteria Provided, Single Submitter","rs74809741","PLEKHG5","57449","NC_000001.10:g.6531589C>T","NC_000001.11:g.6471529C>T","NM_020631.4:c.1240G>A","NP_065682.2:p.Ala414Thr","RCV000317056","Distal spinal muscular atrophy","Likely Benign","(1 Stars) Criteria Provided, Single Submitter","2016-06-14"]
["1:6533393","G/C",null,"PASS","0.435897","22,17",39,99,"0/1","PLEKHG5","missense_variant","Missense","NM_020631.4","NM_020631.4:c.713C>G","NP_065682.2:p.Thr238Ser","NM_001265593.1,NM_001042665.1,NM_001042664.1,NM_001265594.1,NM_020631.4,NM_001265592.1,NM_001042663.1,NM_198681.3","8,8,8,8,8,9,9,9","28.4696,23.5684,23.5684,25.4923,23.5684,29.1283,27.5949,28.9975","PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5","NM_001265593.1,NM_001042665.1,NM_001042664.1,NM_001265594.1,NM_020631.4,NM_001265592.1,NM_001042663.1,NM_198681.3","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","-,-,-,-,-,-,-,-","NP_001252522.1,NP_001036130.1,NP_001036129.1,NP_001252523.1,NP_065682.2,NP_001252521.1,NP_001036128.1,NP_941374.2","NP_001252522.1,NP_001036130.1,NP_001036129.1,NP_001252523.1,NP_065682.2,NP_001252521.1,NP_001036128.1,NP_941374.2","57449,57449,57449,57449,57449,57449,57449,57449","29105,29105,29105,29105,29105,29105,29105,29105","611101,611101,611101,611101,611101,611101,611101,611101","CCDS57968.1,CCDS79.1,CCDS79.1,CCDS57967.1,CCDS79.1,CCDS57969.1,CCDS41241.1,CCDS41240.1",",,,,,,,","pleckstrin homology domain-containing family G member 5 isoform e,pleckstrin homology domain-containing family G member 5 isoform a,pleckstrin homology domain-containing family G member 5 isoform a,pleckstrin homology domain-containing family G member 5 isoform f,pleckstrin homology domain-containing family G member 5 isoform a,pleckstrin homology domain-containing family G member 5 isoform d,pleckstrin homology domain-containing family G member 5 isoform c,pleckstrin homology domain-containing family G member 5 isoform b",",,,,,,,","True","G/C","rs61741379","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","129","SNV","0.7143,0.2857","True","G/C","rs61741379","EX_TARGET",14243,"1431","0.285743",5008,613,409,"104","0.149856",694,88,8,"981","0.742058",1322,241,370,"188","0.192229",978,142,23,"149","0.148111",1006,133,8,"9","0.00892857",1008,9,0,"False",{"$nulls":36},"G/C","198895","Benign","Benign","Benign (3)","(2 Stars) Criteria Provided, Multiple Submitters, No Conflicts","rs61741379","PLEKHG5","57449","NC_000001.10:g.6533393G>C","NC_000001.11:g.6473333G>C","NM_020631.4:c.713C>G","NP_065682.2:p.Thr238Ser","RCV000180356,RCV000346358","not specified,Distal spinal muscular atrophy","Benign,Benign","(2 Stars) Criteria Provided, Multiple Submitters, No Conflicts,(1 Stars) Criteria Provided, Single Submitter","2014-10-31,2016-06-14"]
["1:6579607","C/T",null,"PASS","0.540984","28,33",61,99,"0/1","PLEKHG5","5_prime_UTR_variant","Other","NM_198681.3","NM_198681.3:c.-36G>A",null,"NM_198681.3","1",null,"PLEKHG5","NM_198681.3","mRNA","mRNA","-","NP_941374.2","NP_941374.2","57449","29105","611101","CCDS41240.1",null,"pleckstrin homology domain-containing family G member 5 isoform b",null,"True","C/T","rs1556035","Has SubmitterLinkOut,In 5' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","88","SNV","0.254,0.746","True","C/T","rs1556035",null,17595,"3736","0.746006",5008,806,1465,"601","0.865994",694,75,263,"599","0.453101",1322,345,127,"837","0.855828",978,115,361,"885","0.879722",1006,113,386,"814","0.80754",1008,158,328,"False",{"$nulls":36},"C/T","380860","Benign","Benign","Benign (1)","(1 Stars) Criteria Provided, Single Submitter","rs1556035","PLEKHG5","57449","NC_000001.10:g.6579607C>T","NC_000001.11:g.6519547C>T","NM_020631.4:c.-27998G>A",null,"RCV000433228","not specified","Benign","(1 Stars) Criteria Provided, Single Submitter","2016-01-06"]
["1:6579653","G/C",null,"PASS","0.4","24,16",40,99,"0/1","PLEKHG5","5_prime_UTR_variant","Other","NM_198681.3","NM_198681.3:c.-82C>G",null,"NM_198681.3","1",null,"PLEKHG5","NM_198681.3","mRNA","mRNA","-","NP_941374.2","NP_941374.2","57449","29105","611101","CCDS41240.1",null,"pleckstrin homology domain-containing family G member 5 isoform b",null,"True","G/A/C","rs41278014","Has SubmitterLinkOut,In 5' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","127","SNV","0.8283,,0.1717","True","G/C","rs41278014",null,17935,"860","0.171725",5008,694,83,"80","0.115274",694,68,6,"365","0.276097",1322,269,48,"138","0.141104",978,112,13,"114","0.11332",1006,106,4,"163","0.161706",1008,139,12,"False"]
["1:6579843","C/T",null,"PASS","0.666667","3,6",9,69,"0/1","PLEKHG5","5_prime_UTR_variant","Other","NM_198681.3","NM_198681.3:c.-272G>A",null,"NM_198681.3","1",null,"PLEKHG5","NM_198681.3","mRNA","mRNA","-","NP_941374.2","NP_941374.2","57449","29105","611101","CCDS41240.1",null,"pleckstrin homology domain-containing family G member 5 isoform b",null,"True","C/T","rs1010584","Has SubmitterLinkOut,In 5' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","86","SNV","0.2646,0.7354","True","C/T","rs1010584",null,19525,"3683","0.735423",5008,835,1424,"593","0.854467",694,81,256,"597","0.451589",1322,347,125,"829","0.847648",978,119,355,"865","0.859841",1006,127,369,"799","0.792659",1008,161,319,"False"]
["1:6585804","C/T",null,"PASS","0.513889","35,37",72,99,"0/1","NOL9","3_prime_UTR_variant","Other","NM_024654.4","NM_024654.4:c.*110G>A",null,"NM_024654.4","12",null,"NOL9","NM_024654.4","mRNA","mRNA","-","NP_078930.3","NP_078930.3","79707","26265",null,"CCDS80.1","08667","polynucleotide 5'-hydroxyl-kinase NOL9",null,"True","C/T","rs13513","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","52","SNV","0.2584,0.7416","True","C/T","rs13513",null,20549,"3714","0.741613",5008,856,1429,"597","0.860231",694,77,260,"666","0.503782",1322,352,157,"788","0.805726",978,138,325,"865","0.859841",1006,127,369,"798","0.791667",1008,162,318,"False"]
["1:6649228","T/G",null,"PASS","0.511628","42,44",86,99,"0/1","ZBTB48","missense_variant","Missense","NM_005341.3","NM_005341.3:c.2023T>G","NP_005332.1:p.Ser675Ala","NM_001278647.1,NM_005341.3,NM_001278648.1","11,11,11","97.8229,97.8229,97.8229","ZBTB48,ZBTB48,ZBTB48","NM_001278647.1,NM_005341.3,NM_001278648.1","mRNA,mRNA,mRNA","mRNA,mRNA,mRNA","+,+,+","NP_001265576.1,NP_005332.1,NP_001265577.1","NP_001265576.1,NP_005332.1,NP_001265577.1","3104,3104,3104","4930,4930,4930","165270,165270,165270","CCDS84.1,CCDS84.1,CCDS84.1",",,","zinc finger and BTB domain-containing protein 48,zinc finger and BTB domain-containing protein 48,zinc finger and BTB domain-containing protein 48",",,","True","T/G","rs2229330","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","98","SNV","0.9653,0.03474","True","T/G","rs2229330","EX_TARGET",18572,"174","0.0347444",5008,150,12,"44","0.0634006",694,40,2,"6","0.00453858",1322,6,0,"51","0.0521472",978,43,4,"72","0.0715706",1006,60,6,"1","0.000992064",1008,1,0,"False"]
["1:7737799","A/G",null,"PASS","0.460674","48,41",89,99,"0/1","CAMTA1","splice_region_variant","Other","NM_015215.3","NM_015215.3:c.2914+6A>G",null,"NM_015215.3","11",null,"CAMTA1","NM_015215.3","mRNA","mRNA","+","NP_056030.1","NP_056030.1","23261","18806","611501","CCDS30576.1",null,"calmodulin-binding transcription activator 1 isoform 1",null,"True","A/G","rs3011926","Has SubmitterLinkOut,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","101","SNV","0.4083,0.5917","True","A/G","rs3011926","EX_TARGET",20085,"2963","0.591653",5008,1215,874,"373","0.537464",694,179,97,"774","0.585477",1322,332,221,"580","0.593047",978,232,174,"572","0.568588",1006,252,160,"664","0.65873",1008,220,222,"False"]
["1:7797503","C/G",null,"PASS","0.52381","20,22",42,99,"0/1","CAMTA1","missense_variant","Missense","NM_015215.3","NM_015215.3:c.3531C>G","NP_056030.1:p.Asn1177Lys","NM_015215.3","15","70.2907","CAMTA1","NM_015215.3","mRNA","mRNA","+","NP_056030.1","NP_056030.1","23261","18806","611501","CCDS30576.1",null,"calmodulin-binding transcription activator 1 isoform 1",null,"True","C/G","rs41278952","Variant is Precious,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3,Submitted from a locus-specific database","127","SNV","0.8996,0.1004","True","C/G","rs41278952","EX_TARGET",17819,"503","0.100439",5008,417,43,"145","0.208934",694,103,21,"18","0.0136157",1322,18,0,"145","0.148262",978,121,12,"117","0.116302",1006,109,4,"78","0.077381",1008,66,6,"False",{"$nulls":36},"C/G","128565","Likely Benign","Likely Benign","Likely benign (1)","(0 Stars) No Assertion Criteria Provided","rs41278952","CAMTA1","23261","NC_000001.10:g.7797503C>G","NC_000001.11:g.7737443C>G","NM_015215.3:c.3531C>G","NP_056030.1:p.Asn1177Lys","RCV000116537","not specified","Likely Benign","(0 Stars) No Assertion Criteria Provided"]
["1:7840698","A/G",null,"PASS","0.68","8,17",25,99,"0/1","VAMP3","3_prime_UTR_variant","Other","NM_004781.3","NM_004781.3:c.*993A>G",null,"NM_004781.3","5",null,"VAMP3","NM_004781.3","mRNA","mRNA","+","NP_004772.1","NP_004772.1","9341","12644","603657","CCDS88.1","04711","vesicle-associated membrane protein 3",null,"True","A/G","rs35024711","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","126","SNV","0.9371,0.0629","True","A/G","rs35024711",null,20665,"315","0.0628994",5008,269,23,"55","0.0792507",694,45,5,"13","0.00983359",1322,13,0,"34","0.0347648",978,32,1,"157","0.156064",1006,127,15,"56","0.0555556",1008,52,2,"False"]
["1:7840769","A/G",null,"PASS","0.625","3,5",8,93,"0/1","VAMP3","3_prime_UTR_variant","Other","NM_004781.3","NM_004781.3:c.*1064A>G",null,"NM_004781.3","5",null,"VAMP3","NM_004781.3","mRNA","mRNA","+","NP_004772.1","NP_004772.1","9341","12644","603657","CCDS88.1","04711","vesicle-associated membrane protein 3",null,"True","A/G","rs66781032","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","130","SNV","0.9371,0.0629","True","A/G","rs66781032",null,22410,"315","0.0628994",5008,269,23,"55","0.0792507",694,45,5,"13","0.00983359",1322,13,0,"34","0.0347648",978,32,1,"157","0.156064",1006,127,15,"56","0.0555556",1008,52,2,"False"]
["1:7880683","T/G",null,"PASS","0.414634","72,51",123,99,"0/1","PER3","missense_variant","Missense","NM_001289862.1","NM_001289862.1:c.1940T>G","NP_001276791.1:p.Val647Gly","NM_001289864.1,NM_016831.2,NM_001289862.1,NM_001289863.1,NM_001289861.1","16,16,16,16,16","36.7377,53.1059,53.3719,53.9522,54.2226","PER3,PER3,PER3,PER3,PER3","NM_001289864.1,NM_016831.2,NM_001289862.1,NM_001289863.1,NM_001289861.1","mRNA,mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA,mRNA","+,+,+,+,+","NP_001276793.1,NP_058515.1,NP_001276791.1,NP_001276792.1,NP_001276790.1","NP_001276793.1,NP_058515.1,NP_001276791.1,NP_001276792.1,NP_001276790.1","8863,8863,8863,8863,8863","8847,8847,8847,8847,8847","603427,603427,603427,603427,603427",",CCDS89.1,CCDS72695.1,,CCDS76097.1",",,,,","period circadian protein homolog 3 isoform 5,period circadian protein homolog 3 isoform 4,period circadian protein homolog 3 isoform 1,period circadian protein homolog 3 isoform 3,period circadian protein homolog 3 isoform 2",",,,,","True","T/G","rs10462020","Variant is Precious,Links exist to PubMed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","119","SNV","0.8794,0.1206","True","T/G","rs10462020","EX_TARGET",18504,"604","0.120607",5008,506,49,"148","0.213256",694,112,18,"92","0.0695915",1322,88,2,"158","0.161554",978,134,12,"198","0.196819",1006,164,17,"8","0.00793651",1008,8,0,"False"]
["1:7890117","T/C",null,"PASS","0.595588","55,81",136,99,"0/1","PER3","missense_variant","Missense","NM_001289862.1","NM_001289862.1:c.3110T>C","NP_001276791.1:p.Met1037Thr","NM_001289864.1,NM_016831.2,NM_001289862.1,NM_001289863.1,NM_001289861.1","19,19,19,20,20","80.3966,85.4687,85.5767,85.2602,85.3468","PER3,PER3,PER3,PER3,PER3","NM_001289864.1,NM_016831.2,NM_001289862.1,NM_001289863.1,NM_001289861.1","mRNA,mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA,mRNA","+,+,+,+,+","NP_001276793.1,NP_058515.1,NP_001276791.1,NP_001276792.1,NP_001276790.1","NP_001276793.1,NP_058515.1,NP_001276791.1,NP_001276792.1,NP_001276790.1","8863,8863,8863,8863,8863","8847,8847,8847,8847,8847","603427,603427,603427,603427,603427",",CCDS89.1,CCDS72695.1,,CCDS76097.1",",,,,","period circadian protein homolog 3 isoform 5,period circadian protein homolog 3 isoform 4,period circadian protein homolog 3 isoform 1,period circadian protein homolog 3 isoform 3,period circadian protein homolog 3 isoform 2",",,,,","True","T/C","rs2640909","Variant is Precious,Links exist to PubMed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","123","SNV","0.8147,0.1853","True","T/C","rs2640909","EX_TARGET",17789,"928","0.185304",5008,722,103,"198","0.285303",694,138,30,"128","0.096823",1322,120,4,"256","0.261759",978,200,28,"295","0.293241",1006,215,40,"51","0.0505952",1008,49,1,"False"]
["1:7897133","A/G",null,"PASS","0.550562","80,98",178,99,"0/1","PER3","missense_variant","Missense","NM_001289862.1","NM_001289862.1:c.3473A>G","NP_001276791.1:p.His1158Arg","NM_001289864.1,NM_016831.2,NM_001289862.1,NM_001289863.1,NM_001289861.1","21,21,21,22,22","93.9768,95.5352,95.5684,95.4712,95.4978","PER3,PER3,PER3,PER3,PER3","NM_001289864.1,NM_016831.2,NM_001289862.1,NM_001289863.1,NM_001289861.1","mRNA,mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA,mRNA","+,+,+,+,+","NP_001276793.1,NP_058515.1,NP_001276791.1,NP_001276792.1,NP_001276790.1","NP_001276793.1,NP_058515.1,NP_001276791.1,NP_001276792.1,NP_001276790.1","8863,8863,8863,8863,8863","8847,8847,8847,8847,8847","603427,603427,603427,603427,603427",",CCDS89.1,CCDS72695.1,,CCDS76097.1",",,,,","period circadian protein homolog 3 isoform 5,period circadian protein homolog 3 isoform 4,period circadian protein homolog 3 isoform 1,period circadian protein homolog 3 isoform 3,period circadian protein homolog 3 isoform 2",",,,,","True","A/G","rs10462021","Variant is Precious,Links exist to PubMed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","119","SNV","0.879,0.121","True","A/G","rs10462021","EX_TARGET",9049,"606","0.121006",5008,508,49,"148","0.213256",694,112,18,"94","0.0711044",1322,90,2,"158","0.161554",978,134,12,"198","0.196819",1006,164,17,"8","0.00793651",1008,8,0,"False"]
["1:7903440","A/G",null,"PASS","0.481481","14,13",27,99,"0/1","PER3","3_prime_UTR_variant","Other","NM_001289862.1","NM_001289862.1:c.*625A>G",null,"NM_001289864.1,NM_016831.2,NM_001289862.1,NM_001289863.1,NM_001289861.1","22,22,22,23,23",",,,,","PER3,PER3,PER3,PER3,PER3","NM_001289864.1,NM_016831.2,NM_001289862.1,NM_001289863.1,NM_001289861.1","mRNA,mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA,mRNA","+,+,+,+,+","NP_001276793.1,NP_058515.1,NP_001276791.1,NP_001276792.1,NP_001276790.1","NP_001276793.1,NP_058515.1,NP_001276791.1,NP_001276792.1,NP_001276790.1","8863,8863,8863,8863,8863","8847,8847,8847,8847,8847","603427,603427,603427,603427,603427",",CCDS89.1,CCDS72695.1,,CCDS76097.1",",,,,","period circadian protein homolog 3 isoform 5,period circadian protein homolog 3 isoform 4,period circadian protein homolog 3 isoform 1,period circadian protein homolog 3 isoform 3,period circadian protein homolog 3 isoform 2",",,,,","False",{"$nulls":41},"False"]
["1:8404093","C/T",null,"PASS","0.514286","17,18",35,99,"0/1","SLC45A1","3_prime_UTR_variant","Other","NM_001080397.2","NM_001080397.2:c.*20C>T",null,"NM_001080397.2","9",null,"SLC45A1","NM_001080397.2","mRNA","mRNA","+","NP_001073866.2","NP_001073866.2","50651","17939","605763","CCDS30577.2",null,"proton-associated sugar transporter A",null,"True","C/T","rs1055236","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","86","SNV","0.8129,0.1871","True","C/T","rs1055236","EX_TARGET",16473,"937","0.187101",5008,733,102,"132","0.190202",694,104,14,"139","0.105144",1322,123,8,"231","0.236196",978,193,19,"308","0.306163",1006,212,48,"127","0.125992",1008,101,13,"False"]
["1:8931149","C/T",null,"PASS","0.416667","7,5",12,99,"0/1","ENO1","5_prime_UTR_premature_start_codon_gain_variant","Missense","NM_001428.3","NM_001428.3:c.182-580G>A",null,"NM_001201483.1,NM_001428.3","1,4",",","ENO1,ENO1","NM_001201483.1,NM_001428.3","mRNA,mRNA","mRNA,mRNA","-,-","NP_001188412.1,NP_001419.1","NP_001188412.1,NP_001419.1","2023,2023","3350,3350","172430,172430",",CCDS97.1","01400,01400","c-myc promoter-binding protein-1 isoform MBP-1,alpha-enolase isoform 1",",","True","C/T","rs2274971","RS orientation is reversed,Has SubmitterLinkOut,In 5' UTR,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","100","SNV","0.6536,0.3464","True","C/T","rs2274971",null,22052,"1735","0.346446",5008,873,431,"288","0.414986",694,156,66,"174","0.131619",1322,156,9,"278","0.284254",978,186,46,"247","0.245527",1006,181,33,"748","0.742063",1008,194,277,"False"]
["1:9017204","A/G",null,"PASS","0.481928","43,40",83,99,"0/1","CA6","missense_variant","Missense","NM_001270500.1","NM_001270500.1:c.268A>G","NP_001257429.1:p.Ser90Gly","NM_001270500.1,NM_001270501.1,NM_001270502.1,NM_001215.3","3,2,2,3","28.3439,11.6466,,28.8026","CA6,CA6,CA6,CA6","NM_001270500.1,NM_001270501.1,NM_001270502.1,NM_001215.3","mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA","+,+,+,+","NP_001257429.1,NP_001257430.1,NP_001257431.1,NP_001206.2","NP_001257429.1,NP_001257430.1,NP_001257431.1,NP_001206.2","765,765,765,765","1380,1380,1380,1380","114780,114780,114780,114780","CCDS57970.1,CCDS57971.1,,CCDS30578.1",",,,","carbonic anhydrase 6 isoform 2 precursor,carbonic anhydrase 6 isoform 3 precursor,carbonic anhydrase 6 isoform 4,carbonic anhydrase 6 isoform 1 precursor",",,,","True","A/G","rs2274333","Variant is Precious,Links exist to PubMed,Has 3D structure,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","100","SNV","0.6562,0.3438","True","A/G","rs2274333","EX_TARGET",20770,"1722","0.34385",5008,976,373,"272","0.391931",694,162,55,"150","0.113464",1322,142,4,"445","0.45501",978,233,106,"293","0.291252",1006,185,54,"562","0.55754",1008,254,154,"False"]
["1:9034421","G/A",null,"PASS","0.375","65,39",104,99,"0/1","CA6","missense_variant","Missense","NM_001270500.1","NM_001270500.1:c.860G>A","NP_001257429.1:p.Gly287Glu","NM_001270500.1,NM_001270501.1,NM_001270502.1,NM_001215.3","8,7,6,8","91.189,,,","CA6,CA6,CA6,CA6","NM_001270500.1,NM_001270501.1,NM_001270502.1,NM_001215.3","mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA","+,+,+,+","NP_001257429.1,NP_001257430.1,NP_001257431.1,NP_001206.2","NP_001257429.1,NP_001257430.1,NP_001257431.1,NP_001206.2","765,765,765,765","1380,1380,1380,1380","114780,114780,114780,114780","CCDS57970.1,CCDS57971.1,,CCDS30578.1",",,,","carbonic anhydrase 6 isoform 2 precursor,carbonic anhydrase 6 isoform 3 precursor,carbonic anhydrase 6 isoform 4,carbonic anhydrase 6 isoform 1 precursor",",,,","True","G/A","rs3765964","RS orientation is reversed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","107","SNV","0.5399,0.4601","True","G/A","rs3765964","EX_TARGET",17753,"2304","0.460064",5008,1174,565,"296","0.426513",694,188,54,"426","0.322239",1322,298,64,"504","0.515337",978,240,132,"391","0.388668",1006,225,83,"687","0.681548",1008,223,232,"False"]
["1:9074932","G/A",null,"PASS","0.435185","61,47",108,99,"0/1","SLC2A7","splice_region_variant","Other","NM_207420.2","NM_207420.2:c.716-5C>T",null,"NM_207420.2","7",null,"SLC2A7","NM_207420.2","mRNA","mRNA","-","NP_997303.2","NP_997303.2","155184","13445","610371","CCDS98.2",null,"solute carrier family 2, facilitated glucose transporter member 7",null,"True","G/A","rs1556757","RS orientation is reversed,Has SubmitterLinkOut,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","88","SNV","0.5535,0.4465","True","G/A","rs1556757","EX_TARGET",15052,"2236","0.446486",5008,1146,545,"369","0.5317",694,157,106,"638","0.482602",1322,318,160,"321","0.328221",978,229,46,"360","0.357853",1006,218,71,"548","0.543651",1008,224,162,"False"]
["1:9165685","G/A",null,"PASS","0.517241","28,30",58,99,"0/1","GPR157","missense_variant","Missense","NM_024980.4","NM_024980.4:c.652C>T","NP_079256.4:p.Arg218Cys","NM_024980.4","3","64.5833","GPR157","NM_024980.4","mRNA","mRNA","-","NP_079256.4","NP_079256.4","80045","23687",null,"CCDS100.2",null,"probable G-protein coupled receptor 157",null,"True","G/A","rs72637739","Variant is Precious,Links exist to PubMed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","130","SNV","0.853,0.147","True","G/A","rs72637739","EX_TARGET",19730,"736","0.146965",5008,590,73,"184","0.26513",694,134,25,"15","0.0113464",1322,15,0,"129","0.131902",978,107,11,"216","0.214712",1006,174,21,"192","0.190476",1008,160,16,"False"]
["1:9323910","G/A",null,"PASS","0.462687","36,31",67,99,"0/1","H6PD","missense_variant","Missense","NM_001282587.1","NM_001282587.1:c.1391G>A","NP_001269516.1:p.Arg464Gln","NM_004285.3,NM_001282587.1","5,5","57.1128,57.7003","H6PD,H6PD","NM_004285.3,NM_001282587.1","mRNA,mRNA","mRNA,mRNA","+,+","NP_004276.2,NP_001269516.1","NP_004276.2,NP_001269516.1","9563,9563","4795,4795","138090,138090","CCDS101.1,CCDS72697.1",",","GDH/6PGL endoplasmic bifunctional protein isoform 2 precursor,GDH/6PGL endoplasmic bifunctional protein isoform 1 precursor",",","True","G/A/C","rs6688832","Variant is Precious,Links exist to PubMed,Has 3D structure,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3,Has OMIM/OMIA","116","SNV","0.6104,0.3896,","True","G/A","rs6688832","EX_TARGET",18364,"1951","0.389577",5008,1159,396,"259","0.373199",694,157,51,"652","0.493192",1322,346,153,"305","0.311861",978,213,46,"250","0.248509",1006,180,35,"485","0.481151",1008,263,111,"True","esv3585168","Gain","<CN2>","DUP_gs","EX_TARGET","37553","9","0.00179712","5008","9","0","0","0","694","0","0","0","0","1322","0","0","4","0.00408998","978","4","0","4","0.00397614","1006","4","0","1","0.000992064","1008","1","0","G/A","16131","Uncertain Significance","Uncertain Significance","Uncertain significance (1)","(0 Stars) No Assertion Criteria Provided","rs6688832","H6PD","9563","NC_000001.10:g.9323910G>A","NC_000001.11:g.9263851G>A","NM_004285.3:c.1358G>A","NP_004276.2:p.Arg453Gln","RCV000017511","Cortisone reductase deficiency 1","Uncertain Significance","(0 Stars) No Assertion Criteria Provided","2008-10-01"]
["1:9330479","C/T",null,"PASS","0.421053","11,8",19,99,"0/1","H6PD","3_prime_UTR_variant","Other","NM_001282587.1","NM_001282587.1:c.*5551C>T",null,"NM_004285.3,NM_001282587.1","5,5",",","H6PD,H6PD","NM_004285.3,NM_001282587.1","mRNA,mRNA","mRNA,mRNA","+,+","NP_004276.2,NP_001269516.1","NP_004276.2,NP_001269516.1","9563,9563","4795,4795","138090,138090","CCDS101.1,CCDS72697.1",",","GDH/6PGL endoplasmic bifunctional protein isoform 2 precursor,GDH/6PGL endoplasmic bifunctional protein isoform 1 precursor",",","True","C/T","rs11121356","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","120","SNV","0.9589,0.04113","True","C/T","rs11121356",null,18730,"206","0.0411342",5008,190,8,"51","0.073487",694,47,2,"43","0.0325265",1322,43,0,"10","0.0102249",978,10,0,"102","0.101392",1006,90,6,"0","0",1008,0,0,"True","esv3585168","Gain","<CN2>","DUP_gs","EX_TARGET","37553","9","0.00179712","5008","9","0","0","0","694","0","0","0","0","1322","0","0","4","0.00408998","978","4","0","4","0.00397614","1006","4","0","1","0.000992064","1008","1","0"]
["1:9427842","A/G",null,"PASS","0.7","9,21",30,99,"0/1","SPSB1","3_prime_UTR_variant","Other","NM_025106.3","NM_025106.3:c.*208A>G",null,"NM_025106.3","3",null,"SPSB1","NM_025106.3","mRNA","mRNA","+","NP_079382.2","NP_079382.2","80176","30628","611657","CCDS102.1","18106","SPRY domain-containing SOCS box protein 1",null,"True","A/G","rs2275458","RS orientation is reversed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","100","SNV","0.6466,0.3534","True","A/G","rs2275458",null,18992,"1770","0.353435",5008,1032,369,"318","0.458213",694,180,69,"160","0.121029",1322,136,12,"477","0.48773",978,241,118,"452","0.449304",1006,248,102,"363","0.360119",1008,227,68,"False"]
["1:9787840","G/T",null,"PASS","0.571429","6,8",14,99,"0/1","PIK3CD","3_prime_UTR_variant","Other","NM_005026.3","NM_005026.3:c.*736G>T",null,"NM_005026.3","24",null,"PIK3CD","NM_005026.3","mRNA","mRNA","+","NP_005017.3","NP_005017.3","5293","8977","602839","CCDS104.1",null,"phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform","LRG_191t1","True","G/T","rs1135427","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","86","SNV","0.6364,0.3636","True","G/T","rs1135427",null,16940,"1821","0.363618",5008,1015,403,"303","0.436599",694,175,64,"183","0.138427",1322,161,11,"243","0.248466",978,193,25,"567","0.563618",1006,243,162,"525","0.520833",1008,243,141,"False"]
["1:10490285","T/C",null,"PASS","0.8","3,12",15,69,"0/1","APITD1-CORT,CENPS","5_prime_UTR_variant","Other","NM_198544.3,NM_199294.2","NM_198544.3:c.-290T>C,NM_199294.2:c.-290T>C",",","NM_199294.2,NM_198544.3,NM_001270517.1,NM_199006.2","1,1,1,1",",,,","CENPS,APITD1-CORT,APITD1-CORT,APITD1-CORT","NM_199294.2,NM_198544.3,NM_001270517.1,NM_199006.2","mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA","+,+,+,+","NP_954988.1,NP_940946.1,NP_001257446.1,NP_950171.2","NP_954988.1,NP_940946.1,NP_001257446.1,NP_950171.2","378708,100526739,100526739,100526739","23163,38843,38843,38843","609130,,,","CCDS115.1,CCDS114.1,CCDS115.1,CCDS53266.1",",,,","centromere protein S,APITD1-CORT protein isoform 1,APITD1-CORT protein isoform 4,APITD1-CORT protein isoform 2",",,,","True","T/C","rs649639","Has SubmitterLinkOut,In 5' UTR,In 5' gene region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","83","SNV","0.406,0.594","True","T/C","rs649639",null,17099,"2975","0.59405",5008,1123,926,"424","0.610951",694,154,135,"1012","0.765507",1322,242,385,"575","0.587935",978,241,167,"496","0.493042",1006,252,122,"468","0.464286",1008,234,117,"False"]
["1:10697392","C/T",null,"PASS","0.577778","38,52",90,99,"0/1","CASZ1","3_prime_UTR_variant","Other","NM_001079843.2","NM_001079843.2:c.*1607G>A",null,"NM_001079843.2","21",null,"CASZ1","NM_001079843.2","mRNA","mRNA","-","NP_001073312.1","NP_001073312.1","54897","26002","609895","CCDS41246.1",null,"zinc finger protein castor homolog 1 isoform a",null,"True","C/T","rs72641442","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),1000 Genome phase 1,1000 Genome phase 3","130","SNV","0.9469,0.05312","True","C/T","rs72641442",null,15900,"266","0.053115",5008,240,13,"40","0.0576369",694,38,1,"20","0.0151286",1322,20,0,"30","0.0306748",978,28,1,"105","0.104374",1006,91,7,"71","0.0704365",1008,63,4,"False"]
["1:10725587","C/T",null,"PASS","0.467391","49,43",92,99,"0/1","CASZ1","missense_variant","Missense","NM_001079843.2","NM_001079843.2:c.58G>A","NP_001073312.1:p.Ala20Thr","NM_001079843.2,NM_017766.4","5,5","1.07955,1.62811","CASZ1,CASZ1","NM_001079843.2,NM_017766.4","mRNA,mRNA","mRNA,mRNA","-,-","NP_001073312.1,NP_060236.3","NP_001073312.1,NP_060236.3","54897,54897","26002,26002","609895,609895","CCDS41246.1,CCDS120.2",",","zinc finger protein castor homolog 1 isoform a,zinc finger protein castor homolog 1 isoform b",",","True","C/A/T","rs76910492","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,Marker on high density genotype kit (50K+),1000 Genome phase 1,1000 Genome phase 3","131","SNV","0.9896,0.005192,0.005192","True","C/T","rs76910492","MULTI_ALLELIC,EX_TARGET",15223,"26","0.00519169",5008,26,0,"8","0.0115274",694,8,0,"2","0.00151286",1322,2,0,"1","0.00102249",978,1,0,"12","0.0119284",1006,12,0,"3","0.00297619",1008,3,0,"False"]
["1:11322565","C/G",null,"PASS","0.47619","11,10",21,99,"0/1","MTOR","5_prime_UTR_variant","Other","NM_004958.3","NM_004958.3:c.-78G>C",null,"NM_004958.3","1",null,"MTOR","NM_004958.3","mRNA","mRNA","-","NP_004949.1","NP_004949.1","2475","3942","601231","CCDS127.1","03134","serine/threonine-protein kinase mTOR","LRG_734t1","True","C/G","rs2295079","RS orientation is reversed,Has SubmitterLinkOut,In 5' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","100","SNV","0.4619,0.5381","True","C/G","rs2295079",null,12030,"2695","0.538139",5008,849,923,"473","0.681556",694,141,166,"123","0.0930408",1322,111,6,"617","0.630879",978,209,204,"694","0.689861",1006,198,248,"788","0.781746",1008,190,299,"False"]
["1:11561164","G/A",null,"PASS","0.545455","50,60",110,99,"0/1","DISP3","missense_variant","Missense","NM_020780.1","NM_020780.1:c.115G>A","NP_065831.1:p.Gly39Arg","NM_020780.1","2","2.72793","DISP3","NM_020780.1","mRNA","mRNA","+","NP_065831.1","NP_065831.1","57540","29251","611251","CCDS41247.1",null,"protein dispatched homolog 3",null,"True","G/A","rs41274528","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","127","SNV","0.8173,0.1827","True","G/A","rs41274528","EX_TARGET",16504,"915","0.182708",5008,637,139,"53","0.0763689",694,45,4,"538","0.406959",1322,326,106,"218","0.222904",978,162,28,"58","0.0576541",1006,56,1,"48","0.047619",1008,48,0,"False"]
["1:11561593","G/A",null,"PASS","0.488889","23,22",45,99,"0/1","DISP3","missense_variant","Missense","NM_020780.1","NM_020780.1:c.544G>A","NP_065831.1:p.Gly182Ser","NM_020780.1","2","12.9935","DISP3","NM_020780.1","mRNA","mRNA","+","NP_065831.1","NP_065831.1","57540","29251","611251","CCDS41247.1",null,"protein dispatched homolog 3",null,"True","G/A","rs2817580","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","100","SNV","0.6282,0.3718","True","G/A","rs2817580","EX_TARGET",13855,"1862","0.371805",5008,908,477,"438","0.631124",694,144,147,"189","0.142965",1322,161,14,"298","0.304703",978,184,57,"663","0.659046",1006,217,223,"274","0.271825",1008,202,36,"False"]
["1:11579470","G/A",null,"PASS","0.515625","31,33",64,99,"0/1","DISP3","missense_variant","Missense","NM_020780.1","NM_020780.1:c.1948G>A","NP_065831.1:p.Ala650Thr","NM_020780.1","8","46.5901","DISP3","NM_020780.1","mRNA","mRNA","+","NP_065831.1","NP_065831.1","57540","29251","611251","CCDS41247.1",null,"protein dispatched homolog 3",null,"True","G/A","rs2072994","RS orientation is reversed,Variant is Precious,Links exist to PubMed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","96","SNV","0.6402,0.3598","True","G/A","rs2072994","EX_TARGET",18315,"1802","0.359824",5008,828,487,"455","0.65562",694,147,154,"72","0.0544629",1322,70,1,"352","0.359918",978,196,78,"651","0.647117",1006,213,219,"272","0.269841",1008,202,35,"False"]
["1:11596762","C/T",null,"PASS","0.545455","45,54",99,99,"0/1","DISP3","3_prime_UTR_variant","Other","NM_020780.1","NM_020780.1:c.*19C>T",null,"NM_020780.1","21",null,"DISP3","NM_020780.1","mRNA","mRNA","+","NP_065831.1","NP_065831.1","57540","29251","611251","CCDS41247.1",null,"protein dispatched homolog 3",null,"True","C/T","rs2235666","RS orientation is reversed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","98","SNV","0.5196,0.4804","True","C/T","rs2235666","EX_TARGET",16381,"2406","0.480431",5008,882,762,"139","0.200288",694,107,16,"1172","0.886536",1322,140,516,"421","0.43047",978,225,98,"171","0.16998",1006,147,12,"503","0.499008",1008,263,120,"False"]
["1:11766424","C/T",null,"PASS","0.52809","42,47",89,99,"0/1","DRAXIN","missense_variant","Missense","NM_198545.3","NM_198545.3:c.109C>T","NP_940947.3:p.Leu37Phe","NM_198545.3","2","10.2857","DRAXIN","NM_198545.3","mRNA","mRNA","+","NP_940947.3","NP_940947.3","374946","25054","612682","CCDS135.1",null,"draxin precursor",null,"True","C/T","rs11121804","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","120","SNV","0.849,0.151","True","C/T","rs11121804","EX_TARGET",14876,"756","0.150958",5008,638,59,"104","0.149856",694,80,12,"102","0.0771558",1322,94,4,"110","0.112474",978,102,4,"156","0.15507",1006,132,12,"284","0.281746",1008,230,27,"False"]
["1:11779762","C/T",null,"PASS","0.41","59,41",100,99,"0/1","DRAXIN","3_prime_UTR_variant","Other","NM_198545.3","NM_198545.3:c.*9C>T",null,"NM_198545.3","7",null,"DRAXIN","NM_198545.3","mRNA","mRNA","+","NP_940947.3","NP_940947.3","374946","25054","612682","CCDS135.1",null,"draxin precursor",null,"True","C/T","rs12117076","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","120","SNV","0.8325,0.1675","True","C/T","rs12117076",null,18652,"839","0.167532",5008,605,117,"156","0.224784",694,118,19,"92","0.0695915",1322,86,3,"217","0.221881",978,161,28,"347","0.34493",1006,213,67,"27","0.0267857",1008,27,0,"False"]
["1:11810674","G/A",null,"PASS","0.5","2,2",4,63,"0/1","AGTRAP","3_prime_UTR_variant","Other","NM_020350.4","NM_020350.4:c.*425G>A",null,"NM_001040195.1,NM_001040196.1,NM_001040197.1,NM_001040194.1,NM_020350.4","4,6,6,5,5",",,,,","AGTRAP,AGTRAP,AGTRAP,AGTRAP,AGTRAP","NM_001040195.1,NM_001040196.1,NM_001040197.1,NM_001040194.1,NM_020350.4","mRNA,mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA,mRNA","+,+,+,+,+","NP_001035285.1,NP_001035286.1,NP_001035287.1,NP_001035284.1,NP_065083.3","NP_001035285.1,NP_001035286.1,NP_001035287.1,NP_001035284.1,NP_065083.3","57085,57085,57085,57085,57085","13539,13539,13539,13539,13539","608729,608729,608729,608729,608729","CCDS30586.1,CCDS44056.1,CCDS41248.1,CCDS30585.1,CCDS136.1",",,,,","type-1 angiotensin II receptor-associated protein isoform c,type-1 angiotensin II receptor-associated protein isoform d,type-1 angiotensin II receptor-associated protein isoform e,type-1 angiotensin II receptor-associated protein isoform b,type-1 angiotensin II receptor-associated protein isoform a",",,,,","True","G/A","rs1128059","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","86","SNV","0.7698,0.2302","True","G/A","rs1128059",null,19054,"1153","0.230232",5008,811,171,"201","0.289625",694,141,30,"63","0.0476551",1322,63,0,"239","0.244376",978,181,29,"313","0.311133",1006,213,50,"337","0.334325",1008,213,62,"False"]
["1:11810691","C/T",null,"PASS","0.666667","1,2",3,23,"0/1","AGTRAP","3_prime_UTR_variant","Other","NM_020350.4","NM_020350.4:c.*442C>T",null,"NM_001040195.1,NM_001040196.1,NM_001040197.1,NM_001040194.1,NM_020350.4","4,6,6,5,5",",,,,","AGTRAP,AGTRAP,AGTRAP,AGTRAP,AGTRAP","NM_001040195.1,NM_001040196.1,NM_001040197.1,NM_001040194.1,NM_020350.4","mRNA,mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA,mRNA","+,+,+,+,+","NP_001035285.1,NP_001035286.1,NP_001035287.1,NP_001035284.1,NP_065083.3","NP_001035285.1,NP_001035286.1,NP_001035287.1,NP_001035284.1,NP_065083.3","57085,57085,57085,57085,57085","13539,13539,13539,13539,13539","608729,608729,608729,608729,608729","CCDS30586.1,CCDS44056.1,CCDS41248.1,CCDS30585.1,CCDS136.1",",,,,","type-1 angiotensin II receptor-associated protein isoform c,type-1 angiotensin II receptor-associated protein isoform d,type-1 angiotensin II receptor-associated protein isoform e,type-1 angiotensin II receptor-associated protein isoform b,type-1 angiotensin II receptor-associated protein isoform a",",,,,","True","C/T","rs1128065","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","86","SNV","0.7706,0.2294","True","C/T","rs1128065",null,19417,"1149","0.229433",5008,813,168,"201","0.289625",694,141,30,"63","0.0476551",1322,63,0,"239","0.244376",978,181,29,"311","0.309145",1006,215,48,"335","0.332341",1008,213,61,"False"]
["1:11826630","C/T",null,"PASS","0.53211","51,58",109,99,"0/1","C1orf167","missense_variant","Missense","NM_001010881.1","NM_001010881.1:c.787C>T","NP_001010881.1:p.Pro263Ser","NM_001010881.1","3","18.069","C1orf167","NM_001010881.1","mRNA","mRNA","+","NP_001010881.1","NP_001010881.1","284498","25262",{"$nulls":3},"uncharacterized protein C1orf167",null,"True","C/T","rs6668699","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","116","SNV","0.3704,0.6296","True","C/T","rs6668699",null,14515,"3153","0.629593",5008,1069,1042,"538","0.775216",694,106,216,"718","0.543117",1322,332,193,"461","0.47137",978,219,121,"700","0.695825",1006,210,245,"736","0.730159",1008,202,267,"False"]
["1:11828238","G/A",null,"PASS","0.533333","49,56",105,99,"0/1","C1orf167","missense_variant","Missense","NM_001010881.1","NM_001010881.1:c.1448G>A","NP_001010881.1:p.Arg483Gln","NM_001010881.1","5","33.2644","C1orf167","NM_001010881.1","mRNA","mRNA","+","NP_001010881.1","NP_001010881.1","284498","25262",{"$nulls":3},"uncharacterized protein C1orf167",null,"True","G/A","rs4845880","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","111","SNV","0.3894,0.6106","True","G/A","rs4845880",null,15991,"3058","0.610623",5008,1084,987,"537","0.773775",694,107,215,"626","0.473525",1322,344,141,"461","0.47137",978,221,120,"699","0.694831",1006,209,245,"735","0.729167",1008,203,266,"False"]
["1:11828319","G/A",null,"PASS","0.53271","50,57",107,99,"0/1","C1orf167","missense_variant","Missense","NM_001010881.1","NM_001010881.1:c.1529G>A","NP_001010881.1:p.Arg510Gln","NM_001010881.1","5","35.1264","C1orf167","NM_001010881.1","mRNA","mRNA","+","NP_001010881.1","NP_001010881.1","284498","25262",{"$nulls":3},"uncharacterized protein C1orf167",null,"True","G/A","rs4845881","Variant is Precious,Links exist to PubMed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","111","SNV","0.3882,0.6118","True","G/A","rs4845881",null,17485,"3064","0.611821",5008,1088,988,"535","0.770893",694,109,213,"634","0.479576",1322,346,144,"461","0.47137",978,221,120,"699","0.694831",1006,209,245,"735","0.729167",1008,203,266,"False"]
["1:11831595","G/A",null,"PASS","0.537313","31,36",67,99,"0/1","C1orf167","missense_variant","Missense","NM_001010881.1","NM_001010881.1:c.1712G>A","NP_001010881.1:p.Arg571Lys","NM_001010881.1","7","39.3333","C1orf167","NM_001010881.1","mRNA","mRNA","+","NP_001010881.1","NP_001010881.1","284498","25262",{"$nulls":3},"uncharacterized protein C1orf167",null,"True","G/A","rs55990971","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),1000 Genome phase 1,1000 Genome phase 3","129","SNV","0.9421,0.05791","True","G/A","rs55990971",null,14739,"290","0.0579073",5008,272,9,"38","0.054755",694,34,2,"95","0.0718608",1322,91,2,"83","0.0848671",978,77,3,"65","0.0646123",1006,61,2,"9","0.00892857",1008,9,0,"False"]
["1:11831615","C/T",null,"PASS","0.478261","36,33",69,99,"0/1","C1orf167","missense_variant","Missense","NM_001010881.1","NM_001010881.1:c.1732C>T","NP_001010881.1:p.Arg578Trp","NM_001010881.1","7","39.7931","C1orf167","NM_001010881.1","mRNA","mRNA","+","NP_001010881.1","NP_001010881.1","284498","25262",{"$nulls":3},"uncharacterized protein C1orf167",null,"True","C/T","rs6667720","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","116","SNV","0.3037,0.6963","True","C/T","rs6667720",null,15180,"3487","0.696286",5008,963,1262,"565","0.814121",694,101,232,"682","0.515885",1322,334,174,"625","0.639059",978,213,206,"728","0.723658",1006,200,264,"887","0.87996",1008,115,386,"False"]
["1:11836628","T/C",null,"PASS","0.533333","42,48",90,99,"0/1","C1orf167","missense_variant","Missense","NM_001010881.1","NM_001010881.1:c.2272T>C","NP_001010881.1:p.Trp758Arg","NM_001010881.1","10","52.2069","C1orf167","NM_001010881.1","mRNA","mRNA","+","NP_001010881.1","NP_001010881.1","284498","25262",{"$nulls":3},"uncharacterized protein C1orf167",null,"True","T/C","rs6699881","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","116","SNV","0.2999,0.7001","True","T/C","rs6699881",null,16001,"3506","0.70008",5008,958,1274,"567","0.817003",694,99,234,"684","0.517398",1322,336,174,"631","0.645194",978,211,210,"733","0.728628",1006,201,266,"891","0.883929",1008,111,390,"False"]
["1:11836682","C/T",null,"PASS","0.528736","41,46",87,99,"0/1","C1orf167","missense_variant","Missense","NM_001010881.1","NM_001010881.1:c.2326C>T","NP_001010881.1:p.Arg776Cys","NM_001010881.1","10","53.4483","C1orf167","NM_001010881.1","mRNA","mRNA","+","NP_001010881.1","NP_001010881.1","284498","25262",{"$nulls":3},"uncharacterized protein C1orf167",null,"True","C/T","rs7538516","Variant is Precious,Links exist to PubMed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,In 3' gene region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","116","SNV","0.4295,0.5705","True","C/T","rs7538516",null,17157,"2857","0.570487",5008,1077,890,"527","0.759366",694,119,204,"504","0.381241",1322,310,97,"421","0.43047",978,223,99,"629","0.625248",1006,237,196,"776","0.769841",1008,188,294,"False"]
["1:11838848","G/T",null,"PASS","0.438776","55,43",98,99,"0/1","C1orf167","missense_variant","Missense","NM_001010881.1","NM_001010881.1:c.2471G>T","NP_001010881.1:p.Ser824Ile","NM_001010881.1","11","56.7816","C1orf167","NM_001010881.1","mRNA","mRNA","+","NP_001010881.1","NP_001010881.1","284498","25262",{"$nulls":3},"uncharacterized protein C1orf167",null,"True","G/T","rs6697244","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","116","SNV","0.4293,0.5707","True","G/T","rs6697244",null,14977,"2858","0.570687",5008,1078,890,"527","0.759366",694,119,204,"506","0.382753",1322,310,98,"420","0.429448",978,224,98,"629","0.625248",1006,237,196,"776","0.769841",1008,188,294,"False"]
["1:11839966","G/A",null,"PASS","0.609756","16,25",41,99,"0/1","C1orf167","missense_variant","Missense","NM_001010881.1","NM_001010881.1:c.2759G>A","NP_001010881.1:p.Arg920His","NM_001010881.1","13","63.4023","C1orf167","NM_001010881.1","mRNA","mRNA","+","NP_001010881.1","NP_001010881.1","284498","25262",{"$nulls":3},"uncharacterized protein C1orf167",null,"True","G/A","rs4846043","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,In 5' gene region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","111","SNV","0.4301,0.5699","True","G/A","rs4846043",null,16352,"2854","0.569888",5008,1080,887,"527","0.759366",694,119,204,"506","0.382753",1322,310,98,"422","0.431493",978,222,100,"628","0.624254",1006,238,195,"771","0.764881",1008,191,290,"False"]
["1:11839971","C/T",null,"PASS","0.390244","25,16",41,99,"0/1","C1orf167","missense_variant","Missense","NM_001010881.1","NM_001010881.1:c.2764C>T","NP_001010881.1:p.Arg922Trp","NM_001010881.1","13","63.5172","C1orf167","NM_001010881.1","mRNA","mRNA","+","NP_001010881.1","NP_001010881.1","284498","25262",{"$nulls":3},"uncharacterized protein C1orf167",null,"True","C/T","rs41275460","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,In 5' gene region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,1000 Genome phase 1,1000 Genome phase 3","127","SNV","0.9437,0.05631","True","C/T","rs41275460",null,16166,"282","0.0563099",5008,264,9,"40","0.0576369",694,36,2,"93","0.070348",1322,87,3,"72","0.0736196",978,66,3,"70","0.0695825",1006,68,1,"7","0.00694444",1008,7,0,"False"]
["1:11844454","A/C",null,"PASS","0.475","21,19",40,99,"0/1","C1orf167","missense_variant","Missense","NM_001010881.1","NM_001010881.1:c.3229A>C","NP_001010881.1:p.Lys1077Gln","NM_001010881.1","15","74.2069","C1orf167","NM_001010881.1","mRNA","mRNA","+","NP_001010881.1","NP_001010881.1","284498","25262",{"$nulls":3},"uncharacterized protein C1orf167",null,"True","A/C","rs41275464","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),1000 Genome phase 1,1000 Genome phase 3","127","SNV","0.9405,0.0595","True","A/C","rs41275464",null,16006,"298","0.0595048",5008,280,9,"40","0.0576369",694,36,2,"100","0.075643",1322,94,3,"78","0.0797546",978,72,3,"73","0.0725646",1006,71,1,"7","0.00694444",1008,7,0,"False"]
["1:11847436","T/C",null,"PASS","0.533333","56,64",120,99,"0/1","C1orf167,MTHFR","3_prime_UTR_variant","Other","NM_001010881.1,NM_005957.4","NM_001010881.1:c.3568-9T>C,NM_005957.4:c.*3301A>G",",","NM_001010881.1,NM_001330358.1,NM_005957.4","17,12,12",",,","C1orf167,MTHFR,MTHFR","NM_001010881.1,NM_001330358.1,NM_005957.4","mRNA,mRNA,mRNA","mRNA,mRNA,mRNA","+,-,-","NP_001010881.1,NP_001317287.1,NP_005948.3","NP_001010881.1,NP_001317287.1,NP_005948.3","284498,4524,4524","25262,7436,7436",",607093,607093",",,CCDS137.1",",,","uncharacterized protein C1orf167,methylenetetrahydrofolate reductase isoform 1,methylenetetrahydrofolate reductase isoform 2",",,LRG_726t1","True","T/C","rs2184226","RS orientation is reversed,Variant is Precious,Links exist to PubMed,Has SubmitterLinkOut,In 3' UTR,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","96","SNV","0.9403,0.0597","True","T/C","rs2184226",null,16174,"299","0.0597045",5008,283,8,"40","0.0576369",694,36,2,"111","0.0839637",1322,107,2,"77","0.0787321",978,71,3,"71","0.0705765",1006,69,1,"0","0",1008,0,0,"False",{"$nulls":36},"T/C","292172","Likely Benign","Likely Benign","Likely benign (1)","(1 Stars) Criteria Provided, Single Submitter","rs2184226","MTHFR,C1orf167","4524,284498","NC_000001.10:g.11847436T>C","NC_000001.11:g.11787379T>C","NM_005957.4:c.*3301A>G",null,"RCV000280183","Neural tube defects, folate-sensitive","Likely Benign","(1 Stars) Criteria Provided, Single Submitter","2016-06-14"]
["1:11847759","C/T",null,"PASS","0.414634","24,17",41,99,"0/1","C1orf167,MTHFR","3_prime_UTR_variant","Other","NM_001010881.1,NM_005957.4","NM_001010881.1:c.3674-171C>T,NM_005957.4:c.*2978G>A",",","NM_001010881.1,NM_001330358.1,NM_005957.4","18,12,12",",,","C1orf167,MTHFR,MTHFR","NM_001010881.1,NM_001330358.1,NM_005957.4","mRNA,mRNA,mRNA","mRNA,mRNA,mRNA","+,-,-","NP_001010881.1,NP_001317287.1,NP_005948.3","NP_001010881.1,NP_001317287.1,NP_005948.3","284498,4524,4524","25262,7436,7436",",607093,607093",",,CCDS137.1",",,","uncharacterized protein C1orf167,methylenetetrahydrofolate reductase isoform 1,methylenetetrahydrofolate reductase isoform 2",",,LRG_726t1","True","C/T","rs3737966","RS orientation is reversed,Has SubmitterLinkOut,In 3' UTR,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","107","SNV","0.4415,0.5585","True","C/T","rs3737966",null,19402,"2797","0.558506",5008,1093,852,"515","0.742075",694,121,197,"468","0.354009",1322,304,82,"405","0.41411",978,235,85,"629","0.625248",1006,243,193,"780","0.77381",1008,190,295,"False",{"$nulls":36},"C/T","292181","Likely Benign","Likely Benign","Likely benign (1)","(1 Stars) Criteria Provided, Single Submitter","rs3737966","MTHFR,C1orf167","4524,284498","NC_000001.10:g.11847759C>T","NC_000001.11:g.11787702C>T","NM_005957.4:c.*2978G>A",null,"RCV000309373","Neural tube defects, folate-sensitive","Likely Benign","(1 Stars) Criteria Provided, Single Submitter","2016-06-14"]
["1:11856378","G/A",null,"PASS","0.413793","51,36",87,99,"0/1","MTHFR","missense_variant","Missense","NM_005957.4","NM_005957.4:c.665C>T","NP_005948.3:p.Ala222Val","NM_001330358.1,NM_005957.4","5,5","37.5836,33.6885","MTHFR,MTHFR","NM_001330358.1,NM_005957.4","mRNA,mRNA","mRNA,mRNA","-,-","NP_001317287.1,NP_005948.3","NP_001317287.1,NP_005948.3","4524,4524","7436,7436","607093,607093",",CCDS137.1",",","methylenetetrahydrofolate reductase isoform 1,methylenetetrahydrofolate reductase isoform 2",",LRG_726t1","True","G/A","rs1801133","RS orientation is reversed,Variant is Precious,Provisional Third Party Annotation(TPA),Links exist to PubMed,Has 3D structure,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3,Submitted from a locus-specific database,Microattribution/third-party annotation(TPA:GWAS,PAGE),Has OMIM/OMIA","89","SNV","0.7546,0.2454","True","G/A","rs1801133","EX_TARGET",21284,"1229","0.245407",5008,819,205,"329","0.474063",694,183,73,"119","0.0900151",1322,105,7,"116","0.118609",978,108,4,"367","0.364811",1006,231,68,"298","0.295635",1008,192,53,"False",{"$nulls":36},"G/A","3520","Other","Drug Response","drug response (3),Uncertain significance (2),not provided (1),Likely benign (1),Benign (1),Uncertain significance, other (2),Conflicting interpretations of pathogenicity (2)","(3 Stars) Reviewed By Expert Panel","rs1801133","MTHFR","4524","NC_000001.10:g.11856378G>A","NC_000001.11:g.11796321G>A","NM_005957.4:c.665C>T","NP_005948.3:p.Ala222Val","RCV000003697,RCV000144921,RCV000153516,RCV000211133,RCV000211336,RCV000259890,RCV000417131,RCV000427078,RCV000428048,RCV000761447","MTHFR deficiency, thermolabile type,Gastrointestinal stroma tumor,not provided,cyclophosphamide response - Toxicity/ADR,carboplatin response - Efficacy,Neural tube defects, folate-sensitive,methotrexate response - Dosage, Efficacy, Toxicity/ADR,Neoplasm of stomach,not specified,Venous thrombosis","Conflicting Interpretations Of Pathogenicity,Uncertain Significance,Uncertain Significance, Other,Drug Response,Drug Response,Likely Benign,Drug Response,Not Provided,Benign,Uncertain Significance","(0 Stars) No Assertion Criteria Provided,(0 Stars) No Assertion Criteria Provided,(2 Stars) Criteria Provided, Multiple Submitters, No Conflicts,(3 Stars) Reviewed By Expert Panel,(3 Stars) Reviewed By Expert Panel,(1 Stars) Criteria Provided, Single Submitter,(3 Stars) Reviewed By Expert Panel,(0 Stars) No Assertion Provided,(1 Stars) Criteria Provided, Single Submitter,(0 Stars) No Assertion Criteria Provided","2017-02-28,,2017-05-02,2016-07-11,2016-07-11,2016-06-14,2018-05-14,2016-03-10,2016-04-25,2017-12-30"]
["1:11900385","C/T",null,"PASS","0.5","11,11",22,99,"0/1","CLCN6","3_prime_UTR_variant","Other","NM_001286.3","NM_001286.3:c.*105C>T",null,"NM_001286.3,NM_001256959.1","23,22",",","CLCN6,CLCN6","NM_001286.3,NM_001256959.1","mRNA,mRNA","mRNA,mRNA","+,+","NP_001277.1,NP_001243888.1","NP_001277.1,NP_001243888.1","1185,1185","2024,2024","602726,602726","CCDS138.1,CCDS57972.1","04102,04102","chloride transport protein 6 isoform 1,chloride transport protein 6 isoform 2",",","True","C/T","rs198411","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","79","SNV","0.8381,0.1619","True","C/T","rs198411",null,16588,"811","0.161941",5008,591,110,"74","0.106628",694,58,8,"485","0.366868",1322,311,87,"124","0.126789",978,102,11,"115","0.114314",1006,107,4,"13","0.0128968",1008,13,0,"False"]
["1:11900437","T/C",null,"PASS","0.444444","10,8",18,99,"0/1","CLCN6","3_prime_UTR_variant","Other","NM_001286.3","NM_001286.3:c.*157T>C",null,"NM_001286.3,NM_001256959.1","23,22",",","CLCN6,CLCN6","NM_001286.3,NM_001256959.1","mRNA,mRNA","mRNA,mRNA","+,+","NP_001277.1,NP_001243888.1","NP_001277.1,NP_001243888.1","1185,1185","2024,2024","602726,602726","CCDS138.1,CCDS57972.1","04102,04102","chloride transport protein 6 isoform 1,chloride transport protein 6 isoform 2",",","True","T/C","rs198412","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","79","SNV","0.88,0.12","True","T/C","rs198412",null,17627,"601","0.120008",5008,471,65,"56","0.0806916",694,48,4,"373","0.282148",1322,265,54,"91","0.093047",978,81,5,"73","0.0725646",1006,69,2,"8","0.00793651",1008,8,0,"False"]
["1:11901592","T/C",null,"PASS","0.454545","6,5",11,99,"0/1","CLCN6","3_prime_UTR_variant","Other","NM_001286.3","NM_001286.3:c.*1312T>C",null,"NM_001286.3,NM_001256959.1","23,22",",","CLCN6,CLCN6","NM_001286.3,NM_001256959.1","mRNA,mRNA","mRNA,mRNA","+,+","NP_001277.1,NP_001243888.1","NP_001277.1,NP_001243888.1","1185,1185","2024,2024","602726,602726","CCDS138.1,CCDS57972.1","04102,04102","chloride transport protein 6 isoform 1,chloride transport protein 6 isoform 2",",","True","T/C","rs198415","Has SubmitterLinkOut,In 3' UTR,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","79","SNV","0.8381,0.1619","True","T/C","rs198415",null,22453,"811","0.161941",5008,591,110,"74","0.106628",694,58,8,"485","0.366868",1322,311,87,"124","0.126789",978,102,11,"115","0.114314",1006,107,4,"13","0.0128968",1008,13,0,"False"]
["1:11905981","A/G",null,"PASS","0.481013","41,38",79,99,"0/1","NPPA","3_prime_UTR_variant","Other","NM_006172.3","NM_006172.3:c.*85T>C",null,"NM_006172.3","3",null,"NPPA","NM_006172.3","mRNA","mRNA","-","NP_006163.1","NP_006163.1","4878","7939","108780","CCDS139.1","00164","natriuretic peptides A preproprotein","LRG_751t1","True","A/G/T","rs5067","Variant is Precious,Provisional Third Party Annotation(TPA),Links exist to PubMed,Has SubmitterLinkOut,In 3' UTR,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","52","SNV","0.8209,0.1791,","True","A/G","rs5067",null,20312,"897","0.179113",5008,609,144,"79","0.113833",694,63,8,"553","0.418306",1322,315,119,"128","0.130879",978,104,12,"124","0.12326",1006,114,5,"13","0.0128968",1008,13,0,"False"]
["1:11906068","A/G",null,"PASS","0.479592","51,47",98,99,"0/1","NPPA","stop_lost","LoF","NM_006172.3","NM_006172.3:c.454T>C","NP_006163.1:p.Ter152Argext*2","NM_006172.3","3","99.3421","NPPA","NM_006172.3","mRNA","mRNA","-","NP_006163.1","NP_006163.1","4878","7939","108780","CCDS139.1","00164","natriuretic peptides A preproprotein","LRG_751t1","True","A/G","rs5065","Variant is Precious,Provisional Third Party Annotation(TPA),Links exist to PubMed,Has SubmitterLinkOut,Has reference A coding region,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","52","SNV","0.8209,0.1791","True","A/G","rs5065","EX_TARGET",18871,"897","0.179113",5008,609,144,"79","0.113833",694,63,8,"553","0.418306",1322,315,119,"128","0.130879",978,104,12,"124","0.12326",1006,114,5,"13","0.0128968",1008,13,0,"False",{"$nulls":36},"A/G","226855","Benign","Benign","Benign (2)","(2 Stars) Criteria Provided, Multiple Submitters, No Conflicts","rs5065","NPPA,NPPA-AS1","4878,100379251","NC_000001.10:g.11906068A>G","NC_000001.11:g.11846011A>G","NM_006172.3:c.454T>C","NP_006163.1:p.Ter152Arg","RCV000220174","not specified","Benign","(2 Stars) Criteria Provided, Multiple Submitters, No Conflicts","2017-06-09"]
["1:11979869","C/T",null,"PASS","0.75","1,3",4,28,"0/1","KIAA2013","3_prime_UTR_variant","Other","NM_138346.2","NM_138346.2:c.*503G>A",null,"NM_138346.2","3",null,"KIAA2013","NM_138346.2","mRNA","mRNA","-","NP_612355.1","NP_612355.1","90231","28513",null,"CCDS141.1","14576","uncharacterized protein KIAA2013 precursor",null,"True","C/A/T","rs8247","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","52","SNV","0.9079,,0.09205","True","C/T","rs8247",null,13027,"461","0.0920527",5008,425,18,"51","0.073487",694,45,3,"163","0.123298",1322,153,5,"66","0.0674847",978,60,3,"114","0.11332",1006,106,4,"67","0.0664683",1008,61,3,"False"]
["1:12071680","A/G",null,"PASS","0.528455","58,65",123,99,"0/1","MFN2","3_prime_UTR_variant","Other","NM_014874.3","NM_014874.3:c.*58A>G",null,"NM_001127660.1,NM_014874.3","18,19",",","MFN2,MFN2","NM_001127660.1,NM_014874.3","mRNA,mRNA","mRNA,mRNA","+,+","NP_001121132.1,NP_055689.1","NP_001121132.1,NP_055689.1","9927,9927","16877,16877","608507,608507","CCDS30587.1,CCDS30587.1","08495,08495","mitofusin-2,mitofusin-2",",LRG_255t1","True","A/G","rs1042842","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","86","SNV","0.2676,0.7324","True","A/G","rs1042842",null,17072,"3668","0.732428",5008,922,1373,"408","0.587896",694,172,118,"1177","0.890318",1322,135,521,"697","0.712679",978,195,251,"681","0.676938",1006,211,235,"705","0.699405",1008,209,248,"False",{"$nulls":36},"A/G","292381","Benign","Benign","Benign (2)","(1 Stars) Criteria Provided, Single Submitter","rs1042842","MFN2","9927","NC_000001.10:g.12071680A>G","NC_000001.11:g.12011623A>G","LRG_255t1:c.*58A>G",null,"RCV000275398,RCV000330515","Hereditary motor and sensory neuropathy,Charcot-Marie-Tooth disease, type 2","Benign,Benign","(1 Stars) Criteria Provided, Single Submitter,(1 Stars) Criteria Provided, Single Submitter","2016-06-14,2016-06-14"]
["1:12082926","A/G",null,"PASS","0.517647","41,44",85,99,"0/1","MIIP","missense_variant","Missense","NM_021933.3","NM_021933.3:c.499A>G","NP_068752.2:p.Lys167Glu","NM_021933.3","4","42.6735","MIIP","NM_021933.3","mRNA","mRNA","+","NP_068752.2","NP_068752.2","60672","25715","608772","CCDS143.1",null,"migration and invasion-inhibitory protein",null,"True","A/G","rs2295283","Variant is Precious,Links exist to PubMed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","100","SNV","0.3307,0.6693","True","A/G","rs2295283","EX_TARGET",18996,"3352","0.669329",5008,1042,1155,"415","0.597983",694,169,123,"1051","0.795008",1322,213,419,"598","0.611452",978,232,183,"732","0.727634",1006,194,269,"556","0.551587",1008,234,161,"False"]
["1:12252955","T/G",null,"PASS","0.450704","39,32",71,99,"0/1","TNFRSF1B","missense_variant","Missense","NM_001066.2","NM_001066.2:c.587T>G","NP_001057.1:p.Met196Arg","NM_001066.2","6","42.2799","TNFRSF1B","NM_001066.2","mRNA","mRNA","+","NP_001057.1","NP_001057.1","7133","11917","191191","CCDS145.1","01862","tumor necrosis factor receptor superfamily member 1B precursor",null,"True","T/G","rs1061622","Variant is Precious,Links exist to PubMed,Has 3D structure,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","86","SNV","0.8053,0.1947","True","T/G","rs1061622","EX_TARGET",15660,"975","0.194688",5008,791,92,"88","0.126801",694,70,9,"247","0.186838",1322,209,19,"270","0.276074",978,204,33,"219","0.217694",1006,185,17,"151","0.149802",1008,123,14,"False"]
["1:12267265","A/G",null,"PASS","0.714286","2,5",7,62,"0/1","TNFRSF1B","3_prime_UTR_variant","Other","NM_001066.2","NM_001066.2:c.*188A>G",null,"NM_001066.2","10",null,"TNFRSF1B","NM_001066.2","mRNA","mRNA","+","NP_001057.1","NP_001057.1","7133","11917","191191","CCDS145.1","01862","tumor necrosis factor receptor superfamily member 1B precursor",null,"True","A/G","rs1061624","Variant is Precious,Provisional Third Party Annotation(TPA),Links exist to PubMed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","86","SNV","0.5435,0.4565","True","A/G","rs1061624",null,18840,"2286","0.45647",5008,1212,537,"386","0.556196",694,170,108,"400","0.302572",1322,286,57,"450","0.460123",978,246,102,"535","0.531809",1006,253,141,"515","0.510913",1008,257,129,"False"]
["1:12339619","A/T",null,"PASS","0.401408","85,57",142,99,"0/1","VPS13D","missense_variant","Missense","NM_015378.3","NM_015378.3:c.4514A>T","NP_056193.2:p.Glu1505Val","NM_015378.3,NM_018156.3","20,20","34.2751,34.4714","VPS13D,VPS13D","NM_015378.3,NM_018156.3","mRNA,mRNA","mRNA,mRNA","+,+","NP_056193.2,NP_060626.2","NP_056193.2,NP_060626.2","55187,55187","23595,23595","608877,608877","CCDS30588.1,CCDS30589.1","10593,10593","vacuolar protein sorting-associated protein 13D isoform 1,vacuolar protein sorting-associated protein 13D isoform 2",",","True","A/T","rs4845898","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","111","SNV","0.8389,0.1611","True","A/T","rs4845898","EX_TARGET",16353,"807","0.161142",5008,641,83,"147","0.211816",694,121,13,"20","0.0151286",1322,20,0,"205","0.209611",978,155,25,"237","0.235586",1006,171,33,"198","0.196429",1008,174,12,"False"]
["1:12776134","C/A",null,"PASS","0.52","24,26",50,99,"0/1","AADACL3","5_prime_UTR_variant","Other","NM_001103170.2","NM_001103170.2:c.-46C>A",null,"NM_001103170.2","1",null,"AADACL3","NM_001103170.2","mRNA","mRNA","+","NP_001096640.2","NP_001096640.2","126767","32037",null,"CCDS41253.2",null,"arylacetamide deacetylase-like 3",null,"True","C/A","rs3010874","Has SubmitterLinkOut,In 5' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","101","SNV","0.2915,0.7085","True","C/A","rs3010874",null,19271,"3548","0.708466",5008,950,1299,"605","0.871758",694,77,264,"761","0.575643",1322,315,223,"732","0.748466",978,172,280,"826","0.821074",1006,140,343,"624","0.619048",1008,246,189,"False"]
["1:12776218","A/C",null,"PASS","0.5","41,41",82,99,"0/1","AADACL3","missense_variant","Missense","NM_001103170.2","NM_001103170.2:c.39A>C","NP_001096640.2:p.Ter13Cys","NM_001103170.2","1","3.10458","AADACL3","NM_001103170.2","mRNA","mRNA","+","NP_001096640.2","NP_001096640.2","126767","32037",null,"CCDS41253.2",null,"arylacetamide deacetylase-like 3",null,"True","A/C","rs3000860","RS orientation is reversed,Has SubmitterLinkOut,Has non-synonymous nonsense A coding region,Has reference A coding region,In 5' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","101","SNV","0.1436,0.8564","True","A/C","rs3000860",null,20140,"4289","0.85643",5008,587,1851,"621","0.894813",694,65,278,"1165","0.881241",1322,137,514,"896","0.916155",978,66,415,"869","0.863817",1006,115,377,"738","0.732143",1008,204,267,"False"]
["1:12779618","T/C",null,"PASS","0.471074","64,57",121,99,"0/1","AADACL3","missense_variant","Missense","NM_001103170.2","NM_001103170.2:c.310T>C","NP_001096640.2:p.Ser104Pro","NM_001103170.2","2","25.2451","AADACL3","NM_001103170.2","mRNA","mRNA","+","NP_001096640.2","NP_001096640.2","126767","32037",null,"CCDS41253.2",null,"arylacetamide deacetylase-like 3",null,"True","T/C","rs3010877","Has 3D structure,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","101","SNV","0.152,0.848","True","T/C","rs3010877","EX_TARGET",18666,"4247","0.848043",5008,617,1815,"610","0.878963",694,68,271,"1220","0.922844",1322,96,562,"798","0.815951",978,142,328,"831","0.826044",1006,141,345,"788","0.781746",1008,170,309,"False"]
["1:12785494","G/T",null,"PASS","0.53012","39,44",83,99,"0/1","AADACL3","missense_variant","Missense","NM_001103170.2","NM_001103170.2:c.755G>T","NP_001096640.2:p.Cys252Phe","NM_001103170.2","4","61.6013","AADACL3","NM_001103170.2","mRNA","mRNA","+","NP_001096640.2","NP_001096640.2","126767","32037",null,"CCDS41253.2",null,"arylacetamide deacetylase-like 3",null,"True","G/T","rs7513079","Has 3D structure,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","116","SNV","0.3177,0.6823","True","G/T","rs7513079","EX_TARGET",20711,"3417","0.682308",5008,993,1212,"538","0.775216",694,102,218,"641","0.484871",1322,339,151,"718","0.734151",978,190,264,"734","0.729622",1006,194,270,"786","0.779762",1008,168,309,"False"]
["1:12786070","A/G",null,"PASS","0.346154","17,9",26,99,"0/1","AADACL3","3_prime_UTR_variant","Other","NM_001103170.2","NM_001103170.2:c.*107A>G",null,"NM_001103170.2","4",null,"AADACL3","NM_001103170.2","mRNA","mRNA","+","NP_001096640.2","NP_001096640.2","126767","32037",null,"CCDS41253.2",null,"arylacetamide deacetylase-like 3",null,"True","A/G","rs3000930","RS orientation is reversed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","101","SNV","0.2364,0.7636","True","A/G","rs3000930",null,20768,"3824","0.763578",5008,872,1476,"554","0.798271",694,98,228,"1033","0.781392",1322,221,406,"715","0.731084",978,191,262,"736","0.73161",1006,194,271,"786","0.779762",1008,168,309,"False"]
["1:12820870","T/C",null,"PASS","0.433962","30,23",53,99,"0/1","C1orf158","missense_variant","Missense","NM_152290.3","NM_152290.3:c.571T>C","NP_689503.3:p.Phe191Leu","NM_152290.3,NM_001330361.1","4,3","97.4359,96.8153","C1orf158,C1orf158","NM_152290.3,NM_001330361.1","mRNA,mRNA","mRNA,mRNA","+,+","NP_689503.3,NP_001317290.1","NP_689503.3,NP_001317290.1","93190,93190","28567,28567",",","CCDS147.1,CCDS81264.1",",","uncharacterized protein C1orf158 isoform 1,uncharacterized protein C1orf158 isoform 2",",","True","T/C","rs1132185","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","86","SNV","0.1765,0.8235","True","T/C","rs1132185","EX_TARGET",18125,"4124","0.823482",5008,704,1710,"593","0.854467",694,87,253,"1210","0.91528",1322,106,552,"742","0.758691",978,174,284,"792","0.787276",1006,170,311,"787","0.780754",1008,167,310,"False"]
["1:12854068","T/C",null,"PASS","0.27619","228,87",315,99,"0/1","PRAMEF1","missense_variant","Missense","NM_023013.4","NM_023013.4:c.292T>C","NP_075389.2:p.Trp98Arg","NM_023013.4","3","20.4211","PRAMEF1","NM_023013.4","mRNA","mRNA","+","NP_075389.2","NP_075389.2","65121","28840",null,"CCDS148.1",null,"PRAME family member 1 isoform 1",null,"True","T/C","rs75216843","Has non-synonymous missense A coding region,Has reference A coding region,In 5' gene region,Is Assembly specific,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available","131","SNV",{"$nulls":36},"False"]
["1:12854090","T/A",null,"PASS","0.236923","248,77",325,99,"0/1","PRAMEF1","stop_gained","LoF","NM_023013.4","NM_023013.4:c.314T>A","NP_075389.2:p.Leu105Ter","NM_023013.4","3","21.9649","PRAMEF1","NM_023013.4","mRNA","mRNA","+","NP_075389.2","NP_075389.2","65121","28840",null,"CCDS148.1",null,"PRAME family member 1 isoform 1",null,"True","T/A","rs79698223","Has SubmitterLinkOut,Has non-synonymous nonsense A coding region,Has reference A coding region,In 5' gene region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available","131","SNV",{"$nulls":36},"False"]
["1:12854105","A/G",null,"PASS","0.22508","241,70",311,99,"0/1","PRAMEF1","missense_variant","Missense","NM_023013.4","NM_023013.4:c.329A>G","NP_075389.2:p.Glu110Gly","NM_023013.4","3","23.0175","PRAMEF1","NM_023013.4","mRNA","mRNA","+","NP_075389.2","NP_075389.2","65121","28840",null,"CCDS148.1",null,"PRAME family member 1 isoform 1",null,"True","A/G","rs76648802","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,In 5' gene region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available","131","SNV",{"$nulls":36},"False",{"$nulls":36},"A/G","403339","Benign","Benign","Benign (1)","(1 Stars) Criteria Provided, Single Submitter","rs76648802","PRAMEF1","65121","NC_000001.10:g.12854105A>G","NC_000001.11:g.12793956A>G","NM_023013.4:c.329A>G","NP_075389.2:p.Glu110Gly","RCV000455883","not specified","Benign","(1 Stars) Criteria Provided, Single Submitter","2016-03-29"]
["1:12854162","C/T",null,"MQRankSum-12.5","0.357664","176,98",274,99,"0/1","PRAMEF1","missense_variant","Missense","NM_023013.4","NM_023013.4:c.386C>T","NP_075389.2:p.Thr129Met","NM_023013.4","3","27.0175","PRAMEF1","NM_023013.4","mRNA","mRNA","+","NP_075389.2","NP_075389.2","65121","28840",null,"CCDS148.1",null,"PRAME family member 1 isoform 1",null,"True","C/T","rs199893374","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,In 5' gene region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations","137","SNV",{"$nulls":36},"False"]
["1:12854188","T/C",null,"MQRankSum-12.5","0.412752","175,123",298,99,"0/1","PRAMEF1","missense_variant","Missense","NM_023013.4","NM_023013.4:c.412T>C","NP_075389.2:p.Cys138Arg","NM_023013.4","3","28.8421","PRAMEF1","NM_023013.4","mRNA","mRNA","+","NP_075389.2","NP_075389.2","65121","28840",null,"CCDS148.1",null,"PRAME family member 1 isoform 1",null,"True","T/C","rs76030350","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,In 5' gene region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available","131","SNV",{"$nulls":36},"False"]
["1:12854356","T/C",null,"MQRankSum-12.5","0.248252","215,71",286,99,"0/1","PRAMEF1","missense_variant","Missense","NM_023013.4","NM_023013.4:c.580T>C","NP_075389.2:p.Tyr194His","NM_023013.4","3","40.6316","PRAMEF1","NM_023013.4","mRNA","mRNA","+","NP_075389.2","NP_075389.2","65121","28840",null,"CCDS148.1",null,"PRAME family member 1 isoform 1",null,"True","T/C/G","rs61775051","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,In 5' gene region,Is Assembly specific,Is Validated,Genotypes available","129","SNV",{"$nulls":36},"False"]
["1:12854414","G/A",null,"MQRankSum-12.5,SOR3","0.240175","174,55",229,99,"0/1","PRAMEF1","missense_variant","Missense","NM_023013.4","NM_023013.4:c.638G>A","NP_075389.2:p.Arg213His","NM_023013.4","3","44.7018","PRAMEF1","NM_023013.4","mRNA","mRNA","+","NP_075389.2","NP_075389.2","65121","28840",null,"CCDS148.1",null,"PRAME family member 1 isoform 1",null,"True","G/A/T","rs1063769","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,In 5' gene region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Genotypes available","86","SNV",{"$nulls":36},"False"]
["1:12854428","C/T",null,"PASS","0.331776","143,71",214,99,"0/1","PRAMEF1","missense_variant","Missense","NM_023013.4","NM_023013.4:c.652C>T","NP_075389.2:p.Pro218Ser","NM_023013.4","3","45.6842","PRAMEF1","NM_023013.4","mRNA","mRNA","+","NP_075389.2","NP_075389.2","65121","28840",null,"CCDS148.1",null,"PRAME family member 1 isoform 1",null,"True","C/T","rs1769774","RS orientation is reversed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,In 5' gene region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1","89","SNV",{"$nulls":36},"False"]
["1:12854474","A/C",null,"SOR3","0.125581","188,27",215,99,"0/1","PRAMEF1","missense_variant","Missense","NM_023013.4","NM_023013.4:c.698A>C","NP_075389.2:p.Asn233Thr","NM_023013.4","3","48.9123","PRAMEF1","NM_023013.4","mRNA","mRNA","+","NP_075389.2","NP_075389.2","65121","28840",null,"CCDS148.1",null,"PRAME family member 1 isoform 1",null,"True","A/C/G","rs1063774","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,In 5' gene region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Genotypes available","86","SNV",{"$nulls":36},"False"]
["1:12854479","C/G",null,"SOR3","0.120773","182,25",207,99,"0/1","PRAMEF1","missense_variant","Missense","NM_023013.4","NM_023013.4:c.703C>G","NP_075389.2:p.Arg235Gly","NM_023013.4","3","49.2632","PRAMEF1","NM_023013.4","mRNA","mRNA","+","NP_075389.2","NP_075389.2","65121","28840",null,"CCDS148.1",null,"PRAME family member 1 isoform 1",null,"True","C/G/T","rs1063775","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,In 5' gene region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 3","86","SNV","0.8928,0.1002,0.006989","True","C/G","rs1063775","MULTI_ALLELIC,EX_TARGET",29731,"502","0.10024",5008,502,0,"36","0.0518732",694,36,0,"152","0.114977",1322,152,0,"166","0.169734",978,166,0,"79","0.0785288",1006,79,0,"69","0.0684524",1008,69,0,"False"]
["1:12854842","G/C",null,"PASS","0.391304","70,45",117,99,"0/1","PRAMEF1","5_prime_UTR_variant","Other","NM_023013.4","NM_023013.4:c.866+200G>C",null,"NM_023013.4,NM_001294139.1","3,1",",","PRAMEF1,PRAMEF1","NM_023013.4,NM_001294139.1","mRNA,mRNA","mRNA,mRNA","+,+","NP_075389.2,NP_001281068.1","NP_075389.2,NP_001281068.1","65121,65121","28840,28840",",","CCDS148.1,",",","PRAME family member 1 isoform 1,PRAME family member 1 isoform 2",",","True","G/C","rs11121980","Has SubmitterLinkOut,In 5' UTR,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","120","SNV","0.5972,0.4028","True","G/C","rs11121980",null,27713,"2017","0.402756",5008,1201,408,"371","0.534582",694,177,97,"562","0.425113",1322,336,113,"358","0.366053",978,220,69,"481","0.478131",1006,273,104,"245","0.243056",1008,195,25,"False"]
["1:12854930","T/G",null,"PASS","0.369128","94,55",149,99,"0/1","PRAMEF1","5_prime_UTR_variant","Other","NM_023013.4","NM_023013.4:c.866+288T>G",null,"NM_023013.4,NM_001294139.1","3,1",",","PRAMEF1,PRAMEF1","NM_023013.4,NM_001294139.1","mRNA,mRNA","mRNA,mRNA","+,+","NP_075389.2,NP_001281068.1","NP_075389.2,NP_001281068.1","65121,65121","28840,28840",",","CCDS148.1,",",","PRAME family member 1 isoform 1,PRAME family member 1 isoform 2",",","True","T/G","rs2744046","RS orientation is reversed,Has SubmitterLinkOut,In 5' UTR,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","100","SNV","0.7125,0.2875","True","T/G","rs2744046",null,27249,"1440","0.28754",5008,1176,132,"184","0.26513",694,166,9,"207","0.156581",1322,187,10,"343","0.350716",978,245,49,"311","0.309145",1006,247,32,"395","0.391865",1008,331,32,"True","esv3585241","Loss","<CN0>","DEL_union","EX_TARGET","28417","163","0.0325479","5008","159","2","23","0.0331412","694","23","0","14","0.01059","1322","14","0","48","0.0490798","978","44","2","29","0.028827","1006","29","0","49","0.0486111","1008","49","0"]
["1:12855004","C/T",null,"QD2","0.201149","139,35",174,99,"0/1","PRAMEF1","missense_variant","Missense","NM_023013.4","NM_023013.4:c.866+362C>T",null,"NM_023013.4,NM_001294139.1","3,1",",2.31884","PRAMEF1,PRAMEF1","NM_023013.4,NM_001294139.1","mRNA,mRNA","mRNA,mRNA","+,+","NP_075389.2,NP_001281068.1","NP_075389.2,NP_001281068.1","65121,65121","28840,28840",",","CCDS148.1,",",","PRAME family member 1 isoform 1,PRAME family member 1 isoform 2",",","True","C/T","rs200225858","Has non-synonymous missense A coding region,Has reference A coding region,In Intron,Is Assembly specific,Is Validated","137","SNV",{"$nulls":36},"True","esv3585241","Loss","<CN0>","DEL_union","EX_TARGET","28417","163","0.0325479","5008","159","2","23","0.0331412","694","23","0","14","0.01059","1322","14","0","48","0.0490798","978","44","2","29","0.028827","1006","29","0","49","0.0486111","1008","49","0"]
["1:12855878","A/C",null,"PASS","0.335404","107,54",161,99,"0/1","PRAMEF1","missense_variant","Missense","NM_023013.4","NM_023013.4:c.1158A>C","NP_075389.2:p.Arg386Ser","NM_023013.4,NM_001294139.1","4,2","81.193,61.1594","PRAMEF1,PRAMEF1","NM_023013.4,NM_001294139.1","mRNA,mRNA","mRNA,mRNA","+,+","NP_075389.2,NP_001281068.1","NP_075389.2,NP_001281068.1","65121,65121","28840,28840",",","CCDS148.1,",",","PRAME family member 1 isoform 1,PRAME family member 1 isoform 2",",","True","A/C/T","rs1052908","RS orientation is reversed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Genotypes available","92","SNV",{"$nulls":36},"True","esv3585241","Loss","<CN0>","DEL_union","EX_TARGET","28417","163","0.0325479","5008","159","2","23","0.0331412","694","23","0","14","0.01059","1322","14","0","48","0.0490798","978","44","2","29","0.028827","1006","29","0","49","0.0486111","1008","49","0"]
["1:12855893","T/G",null,"FS60,SOR3","0.2","140,35",175,99,"0/1","PRAMEF1","missense_variant","Missense","NM_023013.4","NM_023013.4:c.1173T>G","NP_075389.2:p.Ile391Met","NM_023013.4,NM_001294139.1","4,2","82.2456,63.3333","PRAMEF1,PRAMEF1","NM_023013.4,NM_001294139.1","mRNA,mRNA","mRNA,mRNA","+,+","NP_075389.2,NP_001281068.1","NP_075389.2,NP_001281068.1","65121,65121","28840,28840",",","CCDS148.1,",",","PRAME family member 1 isoform 1,PRAME family member 1 isoform 2",",","True","T/A/G","rs77615669","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Has synonymous A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,1000 Genome phase 1","131","SNV",{"$nulls":36},"True","esv3585241","Loss","<CN0>","DEL_union","EX_TARGET","28417","163","0.0325479","5008","159","2","23","0.0331412","694","23","0","14","0.01059","1322","14","0","48","0.0490798","978","44","2","29","0.028827","1006","29","0","49","0.0486111","1008","49","0"]
["1:12855895","A/G",null,"FS60,SOR3","0.216374","134,37",171,99,"0/1","PRAMEF1","missense_variant","Missense","NM_023013.4","NM_023013.4:c.1175A>G","NP_075389.2:p.Asp392Gly","NM_023013.4,NM_001294139.1","4,2","82.386,63.6232","PRAMEF1,PRAMEF1","NM_023013.4,NM_001294139.1","mRNA,mRNA","mRNA,mRNA","+,+","NP_075389.2,NP_001281068.1","NP_075389.2,NP_001281068.1","65121,65121","28840,28840",",","CCDS148.1,",",","PRAME family member 1 isoform 1,PRAME family member 1 isoform 2",",","True","A/G","rs200548257","Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated","137","SNV",{"$nulls":36},"True","esv3585241","Loss","<CN0>","DEL_union","EX_TARGET","28417","163","0.0325479","5008","159","2","23","0.0331412","694","23","0","14","0.01059","1322","14","0","48","0.0490798","978","44","2","29","0.028827","1006","29","0","49","0.0486111","1008","49","0"]
["1:12856010","C/G",null,"PASS","0.138408","249,40",289,99,"0/1","PRAMEF1","missense_variant","Missense","NM_023013.4","NM_023013.4:c.1290C>G","NP_075389.2:p.Phe430Leu","NM_023013.4,NM_001294139.1","4,2","90.4561,80.2899","PRAMEF1,PRAMEF1","NM_023013.4,NM_001294139.1","mRNA,mRNA","mRNA,mRNA","+,+","NP_075389.2,NP_001281068.1","NP_075389.2,NP_001281068.1","65121,65121","28840,28840",",","CCDS148.1,",",","PRAME family member 1 isoform 1,PRAME family member 1 isoform 2",",","True","C/G","rs61775053","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations","129","SNV",{"$nulls":36},"True","esv3585241","Loss","<CN0>","DEL_union","EX_TARGET","28417","163","0.0325479","5008","159","2","23","0.0331412","694","23","0","14","0.01059","1322","14","0","48","0.0490798","978","44","2","29","0.028827","1006","29","0","49","0.0486111","1008","49","0"]
["1:12856111","C/T",null,"PASS","0.444882","141,113",254,99,"0/1","PRAMEF1","missense_variant","Missense","NM_023013.4","NM_023013.4:c.1391C>T","NP_075389.2:p.Pro464Leu","NM_023013.4,NM_001294139.1","4,2","97.5439,94.9275","PRAMEF1,PRAMEF1","NM_023013.4,NM_001294139.1","mRNA,mRNA","mRNA,mRNA","+,+","NP_075389.2,NP_001281068.1","NP_075389.2,NP_001281068.1","65121,65121","28840,28840",",","CCDS148.1,",",","PRAME family member 1 isoform 1,PRAME family member 1 isoform 2",",","True","C/G/T","rs61775054","Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations","129","SNV",{"$nulls":36},"True","esv3585241","Loss","<CN0>","DEL_union","EX_TARGET","28417","163","0.0325479","5008","159","2","23","0.0331412","694","23","0","14","0.01059","1322","14","0","48","0.0490798","978","44","2","29","0.028827","1006","29","0","49","0.0486111","1008","49","0"]
["1:12856146","G/A",null,"PASS","0.147059","174,30",204,99,"0/1","PRAMEF1","3_prime_UTR_variant","Other","NM_023013.4","NM_023013.4:c.*1G>A",null,"NM_023013.4,NM_001294139.1","4,2",",","PRAMEF1,PRAMEF1","NM_023013.4,NM_001294139.1","mRNA,mRNA","mRNA,mRNA","+,+","NP_075389.2,NP_001281068.1","NP_075389.2,NP_001281068.1","65121,65121","28840,28840",",","CCDS148.1,",",","PRAME family member 1 isoform 1,PRAME family member 1 isoform 2",",","True","G/A/T","rs1974302","RS orientation is reversed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1","92","SNV",{"$nulls":36},"True","esv3585241","Loss","<CN0>","DEL_union","EX_TARGET","28417","163","0.0325479","5008","159","2","23","0.0331412","694","23","0","14","0.01059","1322","14","0","48","0.0490798","978","44","2","29","0.028827","1006","29","0","49","0.0486111","1008","49","0"]
["1:12856153","G/A",null,"SOR3","0.264865","136,49",185,99,"0/1","PRAMEF1","3_prime_UTR_variant","Other","NM_023013.4","NM_023013.4:c.*8G>A",null,"NM_023013.4,NM_001294139.1","4,2",",","PRAMEF1,PRAMEF1","NM_023013.4,NM_001294139.1","mRNA,mRNA","mRNA,mRNA","+,+","NP_075389.2,NP_001281068.1","NP_075389.2,NP_001281068.1","65121,65121","28840,28840",",","CCDS148.1,",",","PRAME family member 1 isoform 1,PRAME family member 1 isoform 2",",","True","G/A","rs61775055","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations","129","SNV",{"$nulls":36},"True","esv3585241","Loss","<CN0>","DEL_union","EX_TARGET","28417","163","0.0325479","5008","159","2","23","0.0331412","694","23","0","14","0.01059","1322","14","0","48","0.0490798","978","44","2","29","0.028827","1006","29","0","49","0.0486111","1008","49","0"]
["1:12856219","G/A",null,"PASS","0.225806","72,21",93,99,"0/1","PRAMEF1","3_prime_UTR_variant","Other","NM_023013.4","NM_023013.4:c.*74G>A",null,"NM_023013.4,NM_001294139.1","4,2",",","PRAMEF1,PRAMEF1","NM_023013.4,NM_001294139.1","mRNA,mRNA","mRNA,mRNA","+,+","NP_075389.2,NP_001281068.1","NP_075389.2,NP_001281068.1","65121,65121","28840,28840",",","CCDS148.1,",",","PRAME family member 1 isoform 1,PRAME family member 1 isoform 2",",","True","G/A","rs1769781","RS orientation is reversed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available","89","SNV",{"$nulls":36},"True","esv3585241","Loss","<CN0>","DEL_union","EX_TARGET","28417","163","0.0325479","5008","159","2","23","0.0331412","694","23","0","14","0.01059","1322","14","0","48","0.0490798","978","44","2","29","0.028827","1006","29","0","49","0.0486111","1008","49","0"]
["1:12856273","A/C",null,"PASS","0.422222","26,19",45,99,"0/1","PRAMEF1","3_prime_UTR_variant","Other","NM_023013.4","NM_023013.4:c.*128A>C",null,"NM_023013.4,NM_001294139.1","4,2",",","PRAMEF1,PRAMEF1","NM_023013.4,NM_001294139.1","mRNA,mRNA","mRNA,mRNA","+,+","NP_075389.2,NP_001281068.1","NP_075389.2,NP_001281068.1","65121,65121","28840,28840",",","CCDS148.1,",",","PRAME family member 1 isoform 1,PRAME family member 1 isoform 2",",","True","A/C","rs2493877","RS orientation is reversed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 3","100","SNV","0.6575,0.3425","True","A/C","rs2493877",null,16576,"1715","0.342452",5008,1023,346,"214","0.308357",694,140,37,"291","0.220121",1322,213,39,"378","0.386503",978,212,83,"343","0.340954",1006,219,62,"489","0.485119",1008,239,125,"True","esv3585241","Loss","<CN0>","DEL_union","EX_TARGET","28417","163","0.0325479","5008","159","2","23","0.0331412","694","23","0","14","0.01059","1322","14","0","48","0.0490798","978","44","2","29","0.028827","1006","29","0","49","0.0486111","1008","49","0"]
["1:12887549","T/C",null,"PASS","0.469072","103,91",194,99,"0/1","PRAMEF11","missense_variant","Missense","NM_001146344.2","NM_001146344.2:c.431A>G","NP_001139816.2:p.Glu144Gly","NM_001146344.2","4","29.9861","PRAMEF11","NM_001146344.2","mRNA","mRNA","-","NP_001139816.2","NP_001139816.2","440560","14086",null,"CCDS53268.2",null,"PRAME family member 11",null,"True","T/C","rs2994114","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 3","101","SNV","0.2155,0.7845","True","T/C","rs2994114","EX_TARGET",18387,"3929","0.784545",5008,697,1616,"504","0.726225",694,130,187,"778","0.588502",1322,312,233,"865","0.884458",978,91,387,"776","0.771372",1006,162,307,"1006","0.998016",1008,2,502,"True","esv3585241,esv3585242;esv3585243,esv3585242;esv3585243,esv3585244","Loss,Loss,Gain,Loss","<CN0>,<CN0>,<CN2>,<CN0>","DEL_union,DUP_gs,DUP_gs,DEL_union","EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET","28417,18557,18557,13465","163,239,70,175","0.0325479,0.0477236,0.0139776,0.0349441","5008,5008,5008,5008","159,225,66,171","2,7,2,2","23,29,10,68","0.0331412,0.0417867,0.0144092,0.0979827","694,694,694,694","23,29,10,68","0,0,0,0","14,28,28,42","0.01059,0.02118,0.02118,0.03177","1322,1322,1322,1322","14,28,28,40","0,0,0,1","48,62,10,27","0.0490798,0.0633947,0.0102249,0.0276074","978,978,978,978","44,56,10,25","2,3,0,1","29,33,8,25","0.028827,0.0328032,0.00795229,0.0248509","1006,1006,1006,1006","29,33,6,25","0,0,1,0","49,87,14,13","0.0486111,0.0863095,0.0138889,0.0128968","1008,1008,1008,1008","49,79,12,13","0,4,1,0"]
["1:12888629","A/G",null,"FS60","0.317597","159,74",233,99,"0/1","PRAMEF11","missense_variant","Missense","NM_001146344.2","NM_001146344.2:c.20T>C","NP_001139816.2:p.Ile7Thr","NM_001146344.2","2","1.32497","PRAMEF11","NM_001146344.2","mRNA","mRNA","-","NP_001139816.2","NP_001139816.2","440560","14086",null,"CCDS53268.2",null,"PRAME family member 11",null,"True","A/G","rs76312011","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 3","131","SNV","0.9966,0.003395","True","A/G","rs76312011",null,14340,"17","0.00339457",5008,11,3,"2","0.00288184",694,2,0,"1","0.00075643",1322,1,0,"6","0.00613497",978,6,0,"0","0",1006,0,0,"8","0.00793651",1008,2,3,"True","esv3585241,esv3585242;esv3585243,esv3585242;esv3585243,esv3585244","Loss,Loss,Gain,Loss","<CN0>,<CN0>,<CN2>,<CN0>","DEL_union,DUP_gs,DUP_gs,DEL_union","EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET","28417,18557,18557,13465","163,239,70,175","0.0325479,0.0477236,0.0139776,0.0349441","5008,5008,5008,5008","159,225,66,171","2,7,2,2","23,29,10,68","0.0331412,0.0417867,0.0144092,0.0979827","694,694,694,694","23,29,10,68","0,0,0,0","14,28,28,42","0.01059,0.02118,0.02118,0.03177","1322,1322,1322,1322","14,28,28,40","0,0,0,1","48,62,10,27","0.0490798,0.0633947,0.0102249,0.0276074","978,978,978,978","44,56,10,25","2,3,0,1","29,33,8,25","0.028827,0.0328032,0.00795229,0.0248509","1006,1006,1006,1006","29,33,6,25","0,0,1,0","49,87,14,13","0.0486111,0.0863095,0.0138889,0.0128968","1008,1008,1008,1008","49,79,12,13","0,4,1,0"]
["1:12907284","T/C",null,"PASS","0.393305","145,94",239,99,"0/1","HNRNPCL1","missense_variant","Missense","NM_001013631.2","NM_001013631.2:c.859A>G","NP_001013653.1:p.Thr287Ala","NM_001013631.2","2","97.2789","HNRNPCL1","NM_001013631.2","mRNA","mRNA","-","NP_001013653.1","NP_001013653.1","343069","29295",null,"CCDS30591.1","15466","heterogeneous nuclear ribonucleoprotein C-like 1",null,"True","T/C","rs149796618","Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations","134","SNV",{"$nulls":36},"True","esv3585241,esv3585244,esv3585245,esv3585246,esv3585247;esv3585248;esv3585249,esv3585247;esv3585248;esv3585249,esv3585247;esv3585248;esv3585249","Loss,Loss,Loss,Loss,Loss,Gain,Gain","<CN0>,<CN0>,<CN0>,<CN0>,<CN0>,<CN2>,<CN3>","DEL_union,DEL_union,DEL_union,DEL_union,DUP_gs,DUP_gs,DUP_gs","EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET","28417,13465,23432,19121,20982,20982,20982","163,175,234,228,334,409,5","0.0325479,0.0349441,0.0467252,0.0455272,0.0666933,0.0816693,0.000998403","5008,5008,5008,5008,5008,5008,5008","159,171,208,198,304,371,5","2,2,13,15,15,19,0","23,68,96,97,110,14,0","0.0331412,0.0979827,0.138329,0.139769,0.158501,0.0201729,0","694,694,694,694,694,694,694","23,68,80,77,90,14,0","0,0,8,10,10,0,0","14,42,41,37,71,54,0","0.01059,0.03177,0.0310136,0.0279879,0.0537065,0.0408472,0","1322,1322,1322,1322,1322,1322,1322","14,40,37,33,67,54,0","0,1,2,2,2,0,0","48,27,39,39,53,67,0","0.0490798,0.0276074,0.0398773,0.0398773,0.0541922,0.0685072,0","978,978,978,978,978,978,978","44,25,33,33,47,63,0","2,1,3,3,3,2,0","29,25,32,31,39,39,1","0.028827,0.0248509,0.0318091,0.0308151,0.0387674,0.0387674,0.000994036","1006,1006,1006,1006,1006,1006,1006","29,25,32,31,39,37,1","0,0,0,0,0,1,0","49,13,26,24,61,235,4","0.0486111,0.0128968,0.0257937,0.0238095,0.0605159,0.233135,0.00396825","1008,1008,1008,1008,1008,1008,1008","49,13,26,24,61,203,4","0,0,0,0,0,16,0"]
["1:12907285","G/C",null,"PASS","0.39916","143,95",238,99,"0/1","HNRNPCL1","missense_variant","Missense","NM_001013631.2","NM_001013631.2:c.858C>G","NP_001013653.1:p.Ser286Arg","NM_001013631.2","2","97.1655","HNRNPCL1","NM_001013631.2","mRNA","mRNA","-","NP_001013653.1","NP_001013653.1","343069","29295",null,"CCDS30591.1","15466","heterogeneous nuclear ribonucleoprotein C-like 1",null,"True","G/A/C","rs148930640","Has non-synonymous missense A coding region,Has reference A coding region,Has synonymous A coding region,Is Assembly specific,Is Validated","134","SNV",{"$nulls":36},"True","esv3585241,esv3585244,esv3585245,esv3585246,esv3585247;esv3585248;esv3585249,esv3585247;esv3585248;esv3585249,esv3585247;esv3585248;esv3585249","Loss,Loss,Loss,Loss,Loss,Gain,Gain","<CN0>,<CN0>,<CN0>,<CN0>,<CN0>,<CN2>,<CN3>","DEL_union,DEL_union,DEL_union,DEL_union,DUP_gs,DUP_gs,DUP_gs","EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET","28417,13465,23432,19121,20982,20982,20982","163,175,234,228,334,409,5","0.0325479,0.0349441,0.0467252,0.0455272,0.0666933,0.0816693,0.000998403","5008,5008,5008,5008,5008,5008,5008","159,171,208,198,304,371,5","2,2,13,15,15,19,0","23,68,96,97,110,14,0","0.0331412,0.0979827,0.138329,0.139769,0.158501,0.0201729,0","694,694,694,694,694,694,694","23,68,80,77,90,14,0","0,0,8,10,10,0,0","14,42,41,37,71,54,0","0.01059,0.03177,0.0310136,0.0279879,0.0537065,0.0408472,0","1322,1322,1322,1322,1322,1322,1322","14,40,37,33,67,54,0","0,1,2,2,2,0,0","48,27,39,39,53,67,0","0.0490798,0.0276074,0.0398773,0.0398773,0.0541922,0.0685072,0","978,978,978,978,978,978,978","44,25,33,33,47,63,0","2,1,3,3,3,2,0","29,25,32,31,39,39,1","0.028827,0.0248509,0.0318091,0.0308151,0.0387674,0.0387674,0.000994036","1006,1006,1006,1006,1006,1006,1006","29,25,32,31,39,37,1","0,0,0,0,0,1,0","49,13,26,24,61,235,4","0.0486111,0.0128968,0.0257937,0.0238095,0.0605159,0.233135,0.00396825","1008,1008,1008,1008,1008,1008,1008","49,13,26,24,61,203,4","0,0,0,0,0,16,0"]
["1:12907316","T/C",null,"MQRankSum-12.5","0.380952","143,88",231,99,"0/1","HNRNPCL1","missense_variant","Missense","NM_001013631.2","NM_001013631.2:c.827A>G","NP_001013653.1:p.Glu276Gly","NM_001013631.2","2","93.6508","HNRNPCL1","NM_001013631.2","mRNA","mRNA","-","NP_001013653.1","NP_001013653.1","343069","29295",null,"CCDS30591.1","15466","heterogeneous nuclear ribonucleoprotein C-like 1",null,"True","T/C","rs112607517","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available","132","SNV",{"$nulls":36},"True","esv3585241,esv3585244,esv3585245,esv3585246,esv3585247;esv3585248;esv3585249,esv3585247;esv3585248;esv3585249,esv3585247;esv3585248;esv3585249","Loss,Loss,Loss,Loss,Loss,Gain,Gain","<CN0>,<CN0>,<CN0>,<CN0>,<CN0>,<CN2>,<CN3>","DEL_union,DEL_union,DEL_union,DEL_union,DUP_gs,DUP_gs,DUP_gs","EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET","28417,13465,23432,19121,20982,20982,20982","163,175,234,228,334,409,5","0.0325479,0.0349441,0.0467252,0.0455272,0.0666933,0.0816693,0.000998403","5008,5008,5008,5008,5008,5008,5008","159,171,208,198,304,371,5","2,2,13,15,15,19,0","23,68,96,97,110,14,0","0.0331412,0.0979827,0.138329,0.139769,0.158501,0.0201729,0","694,694,694,694,694,694,694","23,68,80,77,90,14,0","0,0,8,10,10,0,0","14,42,41,37,71,54,0","0.01059,0.03177,0.0310136,0.0279879,0.0537065,0.0408472,0","1322,1322,1322,1322,1322,1322,1322","14,40,37,33,67,54,0","0,1,2,2,2,0,0","48,27,39,39,53,67,0","0.0490798,0.0276074,0.0398773,0.0398773,0.0541922,0.0685072,0","978,978,978,978,978,978,978","44,25,33,33,47,63,0","2,1,3,3,3,2,0","29,25,32,31,39,39,1","0.028827,0.0248509,0.0318091,0.0308151,0.0387674,0.0387674,0.000994036","1006,1006,1006,1006,1006,1006,1006","29,25,32,31,39,37,1","0,0,0,0,0,1,0","49,13,26,24,61,235,4","0.0486111,0.0128968,0.0257937,0.0238095,0.0605159,0.233135,0.00396825","1008,1008,1008,1008,1008,1008,1008","49,13,26,24,61,203,4","0,0,0,0,0,16,0"]
["1:12907350","C/T",null,"MQRankSum-12.5","0.394737","138,90",228,99,"0/1","HNRNPCL1","missense_variant","Missense","NM_001013631.2","NM_001013631.2:c.793G>A","NP_001013653.1:p.Asp265Asn","NM_001013631.2","2","89.7959","HNRNPCL1","NM_001013631.2","mRNA","mRNA","-","NP_001013653.1","NP_001013653.1","343069","29295",null,"CCDS30591.1","15466","heterogeneous nuclear ribonucleoprotein C-like 1",null,"True","C/T","rs2359486","RS orientation is reversed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available","100","SNV",{"$nulls":36},"True","esv3585241,esv3585244,esv3585245,esv3585246,esv3585247;esv3585248;esv3585249,esv3585247;esv3585248;esv3585249,esv3585247;esv3585248;esv3585249","Loss,Loss,Loss,Loss,Loss,Gain,Gain","<CN0>,<CN0>,<CN0>,<CN0>,<CN0>,<CN2>,<CN3>","DEL_union,DEL_union,DEL_union,DEL_union,DUP_gs,DUP_gs,DUP_gs","EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET","28417,13465,23432,19121,20982,20982,20982","163,175,234,228,334,409,5","0.0325479,0.0349441,0.0467252,0.0455272,0.0666933,0.0816693,0.000998403","5008,5008,5008,5008,5008,5008,5008","159,171,208,198,304,371,5","2,2,13,15,15,19,0","23,68,96,97,110,14,0","0.0331412,0.0979827,0.138329,0.139769,0.158501,0.0201729,0","694,694,694,694,694,694,694","23,68,80,77,90,14,0","0,0,8,10,10,0,0","14,42,41,37,71,54,0","0.01059,0.03177,0.0310136,0.0279879,0.0537065,0.0408472,0","1322,1322,1322,1322,1322,1322,1322","14,40,37,33,67,54,0","0,1,2,2,2,0,0","48,27,39,39,53,67,0","0.0490798,0.0276074,0.0398773,0.0398773,0.0541922,0.0685072,0","978,978,978,978,978,978,978","44,25,33,33,47,63,0","2,1,3,3,3,2,0","29,25,32,31,39,39,1","0.028827,0.0248509,0.0318091,0.0308151,0.0387674,0.0387674,0.000994036","1006,1006,1006,1006,1006,1006,1006","29,25,32,31,39,37,1","0,0,0,0,0,1,0","49,13,26,24,61,235,4","0.0486111,0.0128968,0.0257937,0.0238095,0.0605159,0.233135,0.00396825","1008,1008,1008,1008,1008,1008,1008","49,13,26,24,61,203,4","0,0,0,0,0,16,0"]
["1:12907370","A/T",null,"MQRankSum-12.5","0.36019","135,76",211,99,"0/1","HNRNPCL1","missense_variant","Missense","NM_001013631.2","NM_001013631.2:c.773T>A","NP_001013653.1:p.Val258Asp","NM_001013631.2","2","87.5283","HNRNPCL1","NM_001013631.2","mRNA","mRNA","-","NP_001013653.1","NP_001013653.1","343069","29295",null,"CCDS30591.1","15466","heterogeneous nuclear ribonucleoprotein C-like 1",null,"True","A/T","rs2076063","RS orientation is reversed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Genotypes available","96","SNV",{"$nulls":36},"True","esv3585241,esv3585244,esv3585245,esv3585246,esv3585247;esv3585248;esv3585249,esv3585247;esv3585248;esv3585249,esv3585247;esv3585248;esv3585249","Loss,Loss,Loss,Loss,Loss,Gain,Gain","<CN0>,<CN0>,<CN0>,<CN0>,<CN0>,<CN2>,<CN3>","DEL_union,DEL_union,DEL_union,DEL_union,DUP_gs,DUP_gs,DUP_gs","EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET","28417,13465,23432,19121,20982,20982,20982","163,175,234,228,334,409,5","0.0325479,0.0349441,0.0467252,0.0455272,0.0666933,0.0816693,0.000998403","5008,5008,5008,5008,5008,5008,5008","159,171,208,198,304,371,5","2,2,13,15,15,19,0","23,68,96,97,110,14,0","0.0331412,0.0979827,0.138329,0.139769,0.158501,0.0201729,0","694,694,694,694,694,694,694","23,68,80,77,90,14,0","0,0,8,10,10,0,0","14,42,41,37,71,54,0","0.01059,0.03177,0.0310136,0.0279879,0.0537065,0.0408472,0","1322,1322,1322,1322,1322,1322,1322","14,40,37,33,67,54,0","0,1,2,2,2,0,0","48,27,39,39,53,67,0","0.0490798,0.0276074,0.0398773,0.0398773,0.0541922,0.0685072,0","978,978,978,978,978,978,978","44,25,33,33,47,63,0","2,1,3,3,3,2,0","29,25,32,31,39,39,1","0.028827,0.0248509,0.0318091,0.0308151,0.0387674,0.0387674,0.000994036","1006,1006,1006,1006,1006,1006,1006","29,25,32,31,39,37,1","0,0,0,0,0,1,0","49,13,26,24,61,235,4","0.0486111,0.0128968,0.0257937,0.0238095,0.0605159,0.233135,0.00396825","1008,1008,1008,1008,1008,1008,1008","49,13,26,24,61,203,4","0,0,0,0,0,16,0"]
["1:12907379","T/C",null,"PASS","0.356436","130,72",202,99,"0/1","HNRNPCL1","missense_variant","Missense","NM_001013631.2","NM_001013631.2:c.764A>G","NP_001013653.1:p.Asp255Gly","NM_001013631.2","2","86.5079","HNRNPCL1","NM_001013631.2","mRNA","mRNA","-","NP_001013653.1","NP_001013653.1","343069","29295",null,"CCDS30591.1","15466","heterogeneous nuclear ribonucleoprotein C-like 1",null,"True","T/C","rs74055698","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","130","SNV","0.768,0.232","True","T/C","rs74055698","EX_TARGET",19624,"1162","0.232029",5008,832,165,"82","0.118156",694,52,15,"508","0.384266",1322,302,103,"131","0.133947",978,111,10,"136","0.135189",1006,104,16,"305","0.302579",1008,263,21,"True","esv3585241,esv3585244,esv3585245,esv3585246,esv3585247;esv3585248;esv3585249,esv3585247;esv3585248;esv3585249,esv3585247;esv3585248;esv3585249","Loss,Loss,Loss,Loss,Loss,Gain,Gain","<CN0>,<CN0>,<CN0>,<CN0>,<CN0>,<CN2>,<CN3>","DEL_union,DEL_union,DEL_union,DEL_union,DUP_gs,DUP_gs,DUP_gs","EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET","28417,13465,23432,19121,20982,20982,20982","163,175,234,228,334,409,5","0.0325479,0.0349441,0.0467252,0.0455272,0.0666933,0.0816693,0.000998403","5008,5008,5008,5008,5008,5008,5008","159,171,208,198,304,371,5","2,2,13,15,15,19,0","23,68,96,97,110,14,0","0.0331412,0.0979827,0.138329,0.139769,0.158501,0.0201729,0","694,694,694,694,694,694,694","23,68,80,77,90,14,0","0,0,8,10,10,0,0","14,42,41,37,71,54,0","0.01059,0.03177,0.0310136,0.0279879,0.0537065,0.0408472,0","1322,1322,1322,1322,1322,1322,1322","14,40,37,33,67,54,0","0,1,2,2,2,0,0","48,27,39,39,53,67,0","0.0490798,0.0276074,0.0398773,0.0398773,0.0541922,0.0685072,0","978,978,978,978,978,978,978","44,25,33,33,47,63,0","2,1,3,3,3,2,0","29,25,32,31,39,39,1","0.028827,0.0248509,0.0318091,0.0308151,0.0387674,0.0387674,0.000994036","1006,1006,1006,1006,1006,1006,1006","29,25,32,31,39,37,1","0,0,0,0,0,1,0","49,13,26,24,61,235,4","0.0486111,0.0128968,0.0257937,0.0238095,0.0605159,0.233135,0.00396825","1008,1008,1008,1008,1008,1008,1008","49,13,26,24,61,203,4","0,0,0,0,0,16,0"]
["1:12907380","C/A",null,"MQRankSum-12.5","0.344828","133,70",203,99,"0/1","HNRNPCL1","missense_variant","Missense","NM_001013631.2","NM_001013631.2:c.763G>T","NP_001013653.1:p.Asp255Tyr","NM_001013631.2","2","86.3946","HNRNPCL1","NM_001013631.2","mRNA","mRNA","-","NP_001013653.1","NP_001013653.1","343069","29295",null,"CCDS30591.1","15466","heterogeneous nuclear ribonucleoprotein C-like 1",null,"True","C/A","rs141207681","Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated","134","SNV",{"$nulls":36},"True","esv3585241,esv3585244,esv3585245,esv3585246,esv3585247;esv3585248;esv3585249,esv3585247;esv3585248;esv3585249,esv3585247;esv3585248;esv3585249","Loss,Loss,Loss,Loss,Loss,Gain,Gain","<CN0>,<CN0>,<CN0>,<CN0>,<CN0>,<CN2>,<CN3>","DEL_union,DEL_union,DEL_union,DEL_union,DUP_gs,DUP_gs,DUP_gs","EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET","28417,13465,23432,19121,20982,20982,20982","163,175,234,228,334,409,5","0.0325479,0.0349441,0.0467252,0.0455272,0.0666933,0.0816693,0.000998403","5008,5008,5008,5008,5008,5008,5008","159,171,208,198,304,371,5","2,2,13,15,15,19,0","23,68,96,97,110,14,0","0.0331412,0.0979827,0.138329,0.139769,0.158501,0.0201729,0","694,694,694,694,694,694,694","23,68,80,77,90,14,0","0,0,8,10,10,0,0","14,42,41,37,71,54,0","0.01059,0.03177,0.0310136,0.0279879,0.0537065,0.0408472,0","1322,1322,1322,1322,1322,1322,1322","14,40,37,33,67,54,0","0,1,2,2,2,0,0","48,27,39,39,53,67,0","0.0490798,0.0276074,0.0398773,0.0398773,0.0541922,0.0685072,0","978,978,978,978,978,978,978","44,25,33,33,47,63,0","2,1,3,3,3,2,0","29,25,32,31,39,39,1","0.028827,0.0248509,0.0318091,0.0308151,0.0387674,0.0387674,0.000994036","1006,1006,1006,1006,1006,1006,1006","29,25,32,31,39,37,1","0,0,0,0,0,1,0","49,13,26,24,61,235,4","0.0486111,0.0128968,0.0257937,0.0238095,0.0605159,0.233135,0.00396825","1008,1008,1008,1008,1008,1008,1008","49,13,26,24,61,203,4","0,0,0,0,0,16,0"]
["1:12907385","G/A",null,"MQRankSum-12.5","0.321244","131,62",193,99,"0/1","HNRNPCL1","missense_variant","Missense","NM_001013631.2","NM_001013631.2:c.758C>T","NP_001013653.1:p.Pro253Leu","NM_001013631.2","2","85.8277","HNRNPCL1","NM_001013631.2","mRNA","mRNA","-","NP_001013653.1","NP_001013653.1","343069","29295",null,"CCDS30591.1","15466","heterogeneous nuclear ribonucleoprotein C-like 1",null,"True","G/A","rs150590256","Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations","134","SNV",{"$nulls":36},"True","esv3585241,esv3585244,esv3585245,esv3585246,esv3585247;esv3585248;esv3585249,esv3585247;esv3585248;esv3585249,esv3585247;esv3585248;esv3585249","Loss,Loss,Loss,Loss,Loss,Gain,Gain","<CN0>,<CN0>,<CN0>,<CN0>,<CN0>,<CN2>,<CN3>","DEL_union,DEL_union,DEL_union,DEL_union,DUP_gs,DUP_gs,DUP_gs","EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET","28417,13465,23432,19121,20982,20982,20982","163,175,234,228,334,409,5","0.0325479,0.0349441,0.0467252,0.0455272,0.0666933,0.0816693,0.000998403","5008,5008,5008,5008,5008,5008,5008","159,171,208,198,304,371,5","2,2,13,15,15,19,0","23,68,96,97,110,14,0","0.0331412,0.0979827,0.138329,0.139769,0.158501,0.0201729,0","694,694,694,694,694,694,694","23,68,80,77,90,14,0","0,0,8,10,10,0,0","14,42,41,37,71,54,0","0.01059,0.03177,0.0310136,0.0279879,0.0537065,0.0408472,0","1322,1322,1322,1322,1322,1322,1322","14,40,37,33,67,54,0","0,1,2,2,2,0,0","48,27,39,39,53,67,0","0.0490798,0.0276074,0.0398773,0.0398773,0.0541922,0.0685072,0","978,978,978,978,978,978,978","44,25,33,33,47,63,0","2,1,3,3,3,2,0","29,25,32,31,39,39,1","0.028827,0.0248509,0.0318091,0.0308151,0.0387674,0.0387674,0.000994036","1006,1006,1006,1006,1006,1006,1006","29,25,32,31,39,37,1","0,0,0,0,0,1,0","49,13,26,24,61,235,4","0.0486111,0.0128968,0.0257937,0.0238095,0.0605159,0.233135,0.00396825","1008,1008,1008,1008,1008,1008,1008","49,13,26,24,61,203,4","0,0,0,0,0,16,0"]
["1:12907400","G/A",null,"MQRankSum-12.5","0.315508","128,59",187,99,"0/1","HNRNPCL1","missense_variant","Missense","NM_001013631.2","NM_001013631.2:c.743C>T","NP_001013653.1:p.Ala248Val","NM_001013631.2","2","84.127","HNRNPCL1","NM_001013631.2","mRNA","mRNA","-","NP_001013653.1","NP_001013653.1","343069","29295",null,"CCDS30591.1","15466","heterogeneous nuclear ribonucleoprotein C-like 1",null,"True","G/A","rs149302457","Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations","134","SNV",{"$nulls":36},"True","esv3585241,esv3585244,esv3585245,esv3585246,esv3585247;esv3585248;esv3585249,esv3585247;esv3585248;esv3585249,esv3585247;esv3585248;esv3585249","Loss,Loss,Loss,Loss,Loss,Gain,Gain","<CN0>,<CN0>,<CN0>,<CN0>,<CN0>,<CN2>,<CN3>","DEL_union,DEL_union,DEL_union,DEL_union,DUP_gs,DUP_gs,DUP_gs","EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET","28417,13465,23432,19121,20982,20982,20982","163,175,234,228,334,409,5","0.0325479,0.0349441,0.0467252,0.0455272,0.0666933,0.0816693,0.000998403","5008,5008,5008,5008,5008,5008,5008","159,171,208,198,304,371,5","2,2,13,15,15,19,0","23,68,96,97,110,14,0","0.0331412,0.0979827,0.138329,0.139769,0.158501,0.0201729,0","694,694,694,694,694,694,694","23,68,80,77,90,14,0","0,0,8,10,10,0,0","14,42,41,37,71,54,0","0.01059,0.03177,0.0310136,0.0279879,0.0537065,0.0408472,0","1322,1322,1322,1322,1322,1322,1322","14,40,37,33,67,54,0","0,1,2,2,2,0,0","48,27,39,39,53,67,0","0.0490798,0.0276074,0.0398773,0.0398773,0.0541922,0.0685072,0","978,978,978,978,978,978,978","44,25,33,33,47,63,0","2,1,3,3,3,2,0","29,25,32,31,39,39,1","0.028827,0.0248509,0.0318091,0.0308151,0.0387674,0.0387674,0.000994036","1006,1006,1006,1006,1006,1006,1006","29,25,32,31,39,37,1","0,0,0,0,0,1,0","49,13,26,24,61,235,4","0.0486111,0.0128968,0.0257937,0.0238095,0.0605159,0.233135,0.00396825","1008,1008,1008,1008,1008,1008,1008","49,13,26,24,61,203,4","0,0,0,0,0,16,0"]
["1:12907408","T/A",null,"MQRankSum-12.5","0.317204","127,59",186,99,"0/1","HNRNPCL1","missense_variant","Missense","NM_001013631.2","NM_001013631.2:c.735A>T","NP_001013653.1:p.Glu245Asp","NM_001013631.2","2","83.22","HNRNPCL1","NM_001013631.2","mRNA","mRNA","-","NP_001013653.1","NP_001013653.1","343069","29295",null,"CCDS30591.1","15466","heterogeneous nuclear ribonucleoprotein C-like 1",null,"True","T/A/G","rs146075045","Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations","134","SNV",{"$nulls":36},"True","esv3585241,esv3585244,esv3585245,esv3585246,esv3585247;esv3585248;esv3585249,esv3585247;esv3585248;esv3585249,esv3585247;esv3585248;esv3585249","Loss,Loss,Loss,Loss,Loss,Gain,Gain","<CN0>,<CN0>,<CN0>,<CN0>,<CN0>,<CN2>,<CN3>","DEL_union,DEL_union,DEL_union,DEL_union,DUP_gs,DUP_gs,DUP_gs","EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET","28417,13465,23432,19121,20982,20982,20982","163,175,234,228,334,409,5","0.0325479,0.0349441,0.0467252,0.0455272,0.0666933,0.0816693,0.000998403","5008,5008,5008,5008,5008,5008,5008","159,171,208,198,304,371,5","2,2,13,15,15,19,0","23,68,96,97,110,14,0","0.0331412,0.0979827,0.138329,0.139769,0.158501,0.0201729,0","694,694,694,694,694,694,694","23,68,80,77,90,14,0","0,0,8,10,10,0,0","14,42,41,37,71,54,0","0.01059,0.03177,0.0310136,0.0279879,0.0537065,0.0408472,0","1322,1322,1322,1322,1322,1322,1322","14,40,37,33,67,54,0","0,1,2,2,2,0,0","48,27,39,39,53,67,0","0.0490798,0.0276074,0.0398773,0.0398773,0.0541922,0.0685072,0","978,978,978,978,978,978,978","44,25,33,33,47,63,0","2,1,3,3,3,2,0","29,25,32,31,39,39,1","0.028827,0.0248509,0.0318091,0.0308151,0.0387674,0.0387674,0.000994036","1006,1006,1006,1006,1006,1006,1006","29,25,32,31,39,37,1","0,0,0,0,0,1,0","49,13,26,24,61,235,4","0.0486111,0.0128968,0.0257937,0.0238095,0.0605159,0.233135,0.00396825","1008,1008,1008,1008,1008,1008,1008","49,13,26,24,61,203,4","0,0,0,0,0,16,0"]
["1:12907446","C/T",null,"PASS","0.329412","114,56",170,99,"0/1","HNRNPCL1","missense_variant","Missense","NM_001013631.2","NM_001013631.2:c.697G>A","NP_001013653.1:p.Glu233Lys","NM_001013631.2","2","78.9116","HNRNPCL1","NM_001013631.2","mRNA","mRNA","-","NP_001013653.1","NP_001013653.1","343069","29295",null,"CCDS30591.1","15466","heterogeneous nuclear ribonucleoprotein C-like 1",null,"True","C/T","rs116578678","Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated","134","SNV",{"$nulls":36},"True","esv3585241,esv3585244,esv3585245,esv3585246,esv3585247;esv3585248;esv3585249,esv3585247;esv3585248;esv3585249,esv3585247;esv3585248;esv3585249","Loss,Loss,Loss,Loss,Loss,Gain,Gain","<CN0>,<CN0>,<CN0>,<CN0>,<CN0>,<CN2>,<CN3>","DEL_union,DEL_union,DEL_union,DEL_union,DUP_gs,DUP_gs,DUP_gs","EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET","28417,13465,23432,19121,20982,20982,20982","163,175,234,228,334,409,5","0.0325479,0.0349441,0.0467252,0.0455272,0.0666933,0.0816693,0.000998403","5008,5008,5008,5008,5008,5008,5008","159,171,208,198,304,371,5","2,2,13,15,15,19,0","23,68,96,97,110,14,0","0.0331412,0.0979827,0.138329,0.139769,0.158501,0.0201729,0","694,694,694,694,694,694,694","23,68,80,77,90,14,0","0,0,8,10,10,0,0","14,42,41,37,71,54,0","0.01059,0.03177,0.0310136,0.0279879,0.0537065,0.0408472,0","1322,1322,1322,1322,1322,1322,1322","14,40,37,33,67,54,0","0,1,2,2,2,0,0","48,27,39,39,53,67,0","0.0490798,0.0276074,0.0398773,0.0398773,0.0541922,0.0685072,0","978,978,978,978,978,978,978","44,25,33,33,47,63,0","2,1,3,3,3,2,0","29,25,32,31,39,39,1","0.028827,0.0248509,0.0318091,0.0308151,0.0387674,0.0387674,0.000994036","1006,1006,1006,1006,1006,1006,1006","29,25,32,31,39,37,1","0,0,0,0,0,1,0","49,13,26,24,61,235,4","0.0486111,0.0128968,0.0257937,0.0238095,0.0605159,0.233135,0.00396825","1008,1008,1008,1008,1008,1008,1008","49,13,26,24,61,203,4","0,0,0,0,0,16,0"]
["1:12907457","A/G",null,"PASS","0.331325","111,55",166,99,"0/1","HNRNPCL1","missense_variant","Missense","NM_001013631.2","NM_001013631.2:c.686T>C","NP_001013653.1:p.Met229Thr","NM_001013631.2","2","77.6644","HNRNPCL1","NM_001013631.2","mRNA","mRNA","-","NP_001013653.1","NP_001013653.1","343069","29295",null,"CCDS30591.1","15466","heterogeneous nuclear ribonucleoprotein C-like 1",null,"True","A/C/G","rs9724654","Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,1000 Genome phase 3","119","SNV","0.9986,,0.001398","True","A/G","rs9724654","EX_TARGET",20600,"7","0.00139776",5008,7,0,"0","0",694,0,0,"1","0.00075643",1322,1,0,"0","0",978,0,0,"6","0.00596421",1006,6,0,"0","0",1008,0,0,"True","esv3585241,esv3585244,esv3585245,esv3585246,esv3585247;esv3585248;esv3585249,esv3585247;esv3585248;esv3585249,esv3585247;esv3585248;esv3585249","Loss,Loss,Loss,Loss,Loss,Gain,Gain","<CN0>,<CN0>,<CN0>,<CN0>,<CN0>,<CN2>,<CN3>","DEL_union,DEL_union,DEL_union,DEL_union,DUP_gs,DUP_gs,DUP_gs","EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET","28417,13465,23432,19121,20982,20982,20982","163,175,234,228,334,409,5","0.0325479,0.0349441,0.0467252,0.0455272,0.0666933,0.0816693,0.000998403","5008,5008,5008,5008,5008,5008,5008","159,171,208,198,304,371,5","2,2,13,15,15,19,0","23,68,96,97,110,14,0","0.0331412,0.0979827,0.138329,0.139769,0.158501,0.0201729,0","694,694,694,694,694,694,694","23,68,80,77,90,14,0","0,0,8,10,10,0,0","14,42,41,37,71,54,0","0.01059,0.03177,0.0310136,0.0279879,0.0537065,0.0408472,0","1322,1322,1322,1322,1322,1322,1322","14,40,37,33,67,54,0","0,1,2,2,2,0,0","48,27,39,39,53,67,0","0.0490798,0.0276074,0.0398773,0.0398773,0.0541922,0.0685072,0","978,978,978,978,978,978,978","44,25,33,33,47,63,0","2,1,3,3,3,2,0","29,25,32,31,39,39,1","0.028827,0.0248509,0.0318091,0.0308151,0.0387674,0.0387674,0.000994036","1006,1006,1006,1006,1006,1006,1006","29,25,32,31,39,37,1","0,0,0,0,0,1,0","49,13,26,24,61,235,4","0.0486111,0.0128968,0.0257937,0.0238095,0.0605159,0.233135,0.00396825","1008,1008,1008,1008,1008,1008,1008","49,13,26,24,61,203,4","0,0,0,0,0,16,0"]
["1:12907458","T/A",null,"PASS","0.323171","111,53",164,99,"0/1","HNRNPCL1","missense_variant","Missense","NM_001013631.2","NM_001013631.2:c.685A>T","NP_001013653.1:p.Met229Leu","NM_001013631.2","2","77.551","HNRNPCL1","NM_001013631.2","mRNA","mRNA","-","NP_001013653.1","NP_001013653.1","343069","29295",null,"CCDS30591.1","15466","heterogeneous nuclear ribonucleoprotein C-like 1",null,"True","T/A/C","rs200282759","Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations","137","SNV",{"$nulls":36},"True","esv3585241,esv3585244,esv3585245,esv3585246,esv3585247;esv3585248;esv3585249,esv3585247;esv3585248;esv3585249,esv3585247;esv3585248;esv3585249","Loss,Loss,Loss,Loss,Loss,Gain,Gain","<CN0>,<CN0>,<CN0>,<CN0>,<CN0>,<CN2>,<CN3>","DEL_union,DEL_union,DEL_union,DEL_union,DUP_gs,DUP_gs,DUP_gs","EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET","28417,13465,23432,19121,20982,20982,20982","163,175,234,228,334,409,5","0.0325479,0.0349441,0.0467252,0.0455272,0.0666933,0.0816693,0.000998403","5008,5008,5008,5008,5008,5008,5008","159,171,208,198,304,371,5","2,2,13,15,15,19,0","23,68,96,97,110,14,0","0.0331412,0.0979827,0.138329,0.139769,0.158501,0.0201729,0","694,694,694,694,694,694,694","23,68,80,77,90,14,0","0,0,8,10,10,0,0","14,42,41,37,71,54,0","0.01059,0.03177,0.0310136,0.0279879,0.0537065,0.0408472,0","1322,1322,1322,1322,1322,1322,1322","14,40,37,33,67,54,0","0,1,2,2,2,0,0","48,27,39,39,53,67,0","0.0490798,0.0276074,0.0398773,0.0398773,0.0541922,0.0685072,0","978,978,978,978,978,978,978","44,25,33,33,47,63,0","2,1,3,3,3,2,0","29,25,32,31,39,39,1","0.028827,0.0248509,0.0318091,0.0308151,0.0387674,0.0387674,0.000994036","1006,1006,1006,1006,1006,1006,1006","29,25,32,31,39,37,1","0,0,0,0,0,1,0","49,13,26,24,61,235,4","0.0486111,0.0128968,0.0257937,0.0238095,0.0605159,0.233135,0.00396825","1008,1008,1008,1008,1008,1008,1008","49,13,26,24,61,203,4","0,0,0,0,0,16,0"]
["1:12907469","C/G",null,"PASS","0.319018","111,52",163,99,"0/1","HNRNPCL1","missense_variant","Missense","NM_001013631.2","NM_001013631.2:c.674G>C","NP_001013653.1:p.Ser225Thr","NM_001013631.2","2","76.3039","HNRNPCL1","NM_001013631.2","mRNA","mRNA","-","NP_001013653.1","NP_001013653.1","343069","29295",null,"CCDS30591.1","15466","heterogeneous nuclear ribonucleoprotein C-like 1",null,"True","C/G","rs200710956","Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated","137","SNV",{"$nulls":36},"True","esv3585241,esv3585244,esv3585245,esv3585246,esv3585247;esv3585248;esv3585249,esv3585247;esv3585248;esv3585249,esv3585247;esv3585248;esv3585249","Loss,Loss,Loss,Loss,Loss,Gain,Gain","<CN0>,<CN0>,<CN0>,<CN0>,<CN0>,<CN2>,<CN3>","DEL_union,DEL_union,DEL_union,DEL_union,DUP_gs,DUP_gs,DUP_gs","EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET","28417,13465,23432,19121,20982,20982,20982","163,175,234,228,334,409,5","0.0325479,0.0349441,0.0467252,0.0455272,0.0666933,0.0816693,0.000998403","5008,5008,5008,5008,5008,5008,5008","159,171,208,198,304,371,5","2,2,13,15,15,19,0","23,68,96,97,110,14,0","0.0331412,0.0979827,0.138329,0.139769,0.158501,0.0201729,0","694,694,694,694,694,694,694","23,68,80,77,90,14,0","0,0,8,10,10,0,0","14,42,41,37,71,54,0","0.01059,0.03177,0.0310136,0.0279879,0.0537065,0.0408472,0","1322,1322,1322,1322,1322,1322,1322","14,40,37,33,67,54,0","0,1,2,2,2,0,0","48,27,39,39,53,67,0","0.0490798,0.0276074,0.0398773,0.0398773,0.0541922,0.0685072,0","978,978,978,978,978,978,978","44,25,33,33,47,63,0","2,1,3,3,3,2,0","29,25,32,31,39,39,1","0.028827,0.0248509,0.0318091,0.0308151,0.0387674,0.0387674,0.000994036","1006,1006,1006,1006,1006,1006,1006","29,25,32,31,39,37,1","0,0,0,0,0,1,0","49,13,26,24,61,235,4","0.0486111,0.0128968,0.0257937,0.0238095,0.0605159,0.233135,0.00396825","1008,1008,1008,1008,1008,1008,1008","49,13,26,24,61,203,4","0,0,0,0,0,16,0"]
["1:12907508","T/C",null,"PASS","0.268966","106,39",145,99,"0/1","HNRNPCL1","missense_variant","Missense","NM_001013631.2","NM_001013631.2:c.635A>G","NP_001013653.1:p.Glu212Gly","NM_001013631.2","2","71.8821","HNRNPCL1","NM_001013631.2","mRNA","mRNA","-","NP_001013653.1","NP_001013653.1","343069","29295",null,"CCDS30591.1","15466","heterogeneous nuclear ribonucleoprotein C-like 1",null,"True","T/C","rs138145027","Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,1000 Genome phase 3","137","SNV","0.9257,0.07428","True","T/C","rs138145027","EX_TARGET",20779,"372","0.0742811",5008,364,4,"12","0.0172911",694,10,1,"22","0.0166415",1322,22,0,"73","0.0746421",978,71,1,"39","0.0387674",1006,39,0,"226","0.224206",1008,222,2,"True","esv3585241,esv3585244,esv3585245,esv3585246,esv3585247;esv3585248;esv3585249,esv3585247;esv3585248;esv3585249,esv3585247;esv3585248;esv3585249","Loss,Loss,Loss,Loss,Loss,Gain,Gain","<CN0>,<CN0>,<CN0>,<CN0>,<CN0>,<CN2>,<CN3>","DEL_union,DEL_union,DEL_union,DEL_union,DUP_gs,DUP_gs,DUP_gs","EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET","28417,13465,23432,19121,20982,20982,20982","163,175,234,228,334,409,5","0.0325479,0.0349441,0.0467252,0.0455272,0.0666933,0.0816693,0.000998403","5008,5008,5008,5008,5008,5008,5008","159,171,208,198,304,371,5","2,2,13,15,15,19,0","23,68,96,97,110,14,0","0.0331412,0.0979827,0.138329,0.139769,0.158501,0.0201729,0","694,694,694,694,694,694,694","23,68,80,77,90,14,0","0,0,8,10,10,0,0","14,42,41,37,71,54,0","0.01059,0.03177,0.0310136,0.0279879,0.0537065,0.0408472,0","1322,1322,1322,1322,1322,1322,1322","14,40,37,33,67,54,0","0,1,2,2,2,0,0","48,27,39,39,53,67,0","0.0490798,0.0276074,0.0398773,0.0398773,0.0541922,0.0685072,0","978,978,978,978,978,978,978","44,25,33,33,47,63,0","2,1,3,3,3,2,0","29,25,32,31,39,39,1","0.028827,0.0248509,0.0318091,0.0308151,0.0387674,0.0387674,0.000994036","1006,1006,1006,1006,1006,1006,1006","29,25,32,31,39,37,1","0,0,0,0,0,1,0","49,13,26,24,61,235,4","0.0486111,0.0128968,0.0257937,0.0238095,0.0605159,0.233135,0.00396825","1008,1008,1008,1008,1008,1008,1008","49,13,26,24,61,203,4","0,0,0,0,0,16,0"]
["1:12907518","T/A",null,"PASS","0.276596","102,39",141,99,"0/1","HNRNPCL1","missense_variant","Missense","NM_001013631.2","NM_001013631.2:c.625A>T","NP_001013653.1:p.Ser209Cys","NM_001013631.2","2","70.7483","HNRNPCL1","NM_001013631.2","mRNA","mRNA","-","NP_001013653.1","NP_001013653.1","343069","29295",null,"CCDS30591.1","15466","heterogeneous nuclear ribonucleoprotein C-like 1",null,"True","T/A","rs201750607","Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated","137","SNV",{"$nulls":36},"True","esv3585241,esv3585244,esv3585245,esv3585246,esv3585247;esv3585248;esv3585249,esv3585247;esv3585248;esv3585249,esv3585247;esv3585248;esv3585249","Loss,Loss,Loss,Loss,Loss,Gain,Gain","<CN0>,<CN0>,<CN0>,<CN0>,<CN0>,<CN2>,<CN3>","DEL_union,DEL_union,DEL_union,DEL_union,DUP_gs,DUP_gs,DUP_gs","EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET","28417,13465,23432,19121,20982,20982,20982","163,175,234,228,334,409,5","0.0325479,0.0349441,0.0467252,0.0455272,0.0666933,0.0816693,0.000998403","5008,5008,5008,5008,5008,5008,5008","159,171,208,198,304,371,5","2,2,13,15,15,19,0","23,68,96,97,110,14,0","0.0331412,0.0979827,0.138329,0.139769,0.158501,0.0201729,0","694,694,694,694,694,694,694","23,68,80,77,90,14,0","0,0,8,10,10,0,0","14,42,41,37,71,54,0","0.01059,0.03177,0.0310136,0.0279879,0.0537065,0.0408472,0","1322,1322,1322,1322,1322,1322,1322","14,40,37,33,67,54,0","0,1,2,2,2,0,0","48,27,39,39,53,67,0","0.0490798,0.0276074,0.0398773,0.0398773,0.0541922,0.0685072,0","978,978,978,978,978,978,978","44,25,33,33,47,63,0","2,1,3,3,3,2,0","29,25,32,31,39,39,1","0.028827,0.0248509,0.0318091,0.0308151,0.0387674,0.0387674,0.000994036","1006,1006,1006,1006,1006,1006,1006","29,25,32,31,39,37,1","0,0,0,0,0,1,0","49,13,26,24,61,235,4","0.0486111,0.0128968,0.0257937,0.0238095,0.0605159,0.233135,0.00396825","1008,1008,1008,1008,1008,1008,1008","49,13,26,24,61,203,4","0,0,0,0,0,16,0"]
["1:12907519","C/A",null,"PASS","0.276596","102,39",141,99,"0/1","HNRNPCL1","missense_variant","Missense","NM_001013631.2","NM_001013631.2:c.624G>T","NP_001013653.1:p.Gln208His","NM_001013631.2","2","70.6349","HNRNPCL1","NM_001013631.2","mRNA","mRNA","-","NP_001013653.1","NP_001013653.1","343069","29295",null,"CCDS30591.1","15466","heterogeneous nuclear ribonucleoprotein C-like 1",null,"True","C/A","rs6702447","Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,Marker on high density genotype kit (50K+),Genotypes available","116","SNV",{"$nulls":36},"True","esv3585241,esv3585244,esv3585245,esv3585246,esv3585247;esv3585248;esv3585249,esv3585247;esv3585248;esv3585249,esv3585247;esv3585248;esv3585249","Loss,Loss,Loss,Loss,Loss,Gain,Gain","<CN0>,<CN0>,<CN0>,<CN0>,<CN0>,<CN2>,<CN3>","DEL_union,DEL_union,DEL_union,DEL_union,DUP_gs,DUP_gs,DUP_gs","EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET","28417,13465,23432,19121,20982,20982,20982","163,175,234,228,334,409,5","0.0325479,0.0349441,0.0467252,0.0455272,0.0666933,0.0816693,0.000998403","5008,5008,5008,5008,5008,5008,5008","159,171,208,198,304,371,5","2,2,13,15,15,19,0","23,68,96,97,110,14,0","0.0331412,0.0979827,0.138329,0.139769,0.158501,0.0201729,0","694,694,694,694,694,694,694","23,68,80,77,90,14,0","0,0,8,10,10,0,0","14,42,41,37,71,54,0","0.01059,0.03177,0.0310136,0.0279879,0.0537065,0.0408472,0","1322,1322,1322,1322,1322,1322,1322","14,40,37,33,67,54,0","0,1,2,2,2,0,0","48,27,39,39,53,67,0","0.0490798,0.0276074,0.0398773,0.0398773,0.0541922,0.0685072,0","978,978,978,978,978,978,978","44,25,33,33,47,63,0","2,1,3,3,3,2,0","29,25,32,31,39,39,1","0.028827,0.0248509,0.0318091,0.0308151,0.0387674,0.0387674,0.000994036","1006,1006,1006,1006,1006,1006,1006","29,25,32,31,39,37,1","0,0,0,0,0,1,0","49,13,26,24,61,235,4","0.0486111,0.0128968,0.0257937,0.0238095,0.0605159,0.233135,0.00396825","1008,1008,1008,1008,1008,1008,1008","49,13,26,24,61,203,4","0,0,0,0,0,16,0"]
["1:12907781","T/C",null,"FS60,MQRankSum-12.5,SOR3","0.376884","124,75",199,99,"0/1","HNRNPCL1","missense_variant","Missense","NM_001013631.2","NM_001013631.2:c.362A>G","NP_001013653.1:p.Asp121Gly","NM_001013631.2","2","40.9297","HNRNPCL1","NM_001013631.2","mRNA","mRNA","-","NP_001013653.1","NP_001013653.1","343069","29295",null,"CCDS30591.1","15466","heterogeneous nuclear ribonucleoprotein C-like 1",null,"True","T/C","rs28441396","Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 3","125","SNV","0.9994,0.000599","False","T/C","rs28441396","EX_TARGET",18869,"3","0.000599042",5008,3,0,"1","0.00144092",694,1,0,"0","0",1322,0,0,"0","0",978,0,0,"0","0",1006,0,0,"2","0.00198413",1008,2,0,"True","esv3585241,esv3585244,esv3585245,esv3585246,esv3585247;esv3585248;esv3585249,esv3585247;esv3585248;esv3585249,esv3585247;esv3585248;esv3585249","Loss,Loss,Loss,Loss,Loss,Gain,Gain","<CN0>,<CN0>,<CN0>,<CN0>,<CN0>,<CN2>,<CN3>","DEL_union,DEL_union,DEL_union,DEL_union,DUP_gs,DUP_gs,DUP_gs","EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET","28417,13465,23432,19121,20982,20982,20982","163,175,234,228,334,409,5","0.0325479,0.0349441,0.0467252,0.0455272,0.0666933,0.0816693,0.000998403","5008,5008,5008,5008,5008,5008,5008","159,171,208,198,304,371,5","2,2,13,15,15,19,0","23,68,96,97,110,14,0","0.0331412,0.0979827,0.138329,0.139769,0.158501,0.0201729,0","694,694,694,694,694,694,694","23,68,80,77,90,14,0","0,0,8,10,10,0,0","14,42,41,37,71,54,0","0.01059,0.03177,0.0310136,0.0279879,0.0537065,0.0408472,0","1322,1322,1322,1322,1322,1322,1322","14,40,37,33,67,54,0","0,1,2,2,2,0,0","48,27,39,39,53,67,0","0.0490798,0.0276074,0.0398773,0.0398773,0.0541922,0.0685072,0","978,978,978,978,978,978,978","44,25,33,33,47,63,0","2,1,3,3,3,2,0","29,25,32,31,39,39,1","0.028827,0.0248509,0.0318091,0.0308151,0.0387674,0.0387674,0.000994036","1006,1006,1006,1006,1006,1006,1006","29,25,32,31,39,37,1","0,0,0,0,0,1,0","49,13,26,24,61,235,4","0.0486111,0.0128968,0.0257937,0.0238095,0.0605159,0.233135,0.00396825","1008,1008,1008,1008,1008,1008,1008","49,13,26,24,61,203,4","0,0,0,0,0,16,0"]
["1:12907798","A/C",null,"FS60,SOR3","0.457014","120,101",221,99,"0/1","HNRNPCL1","missense_variant","Missense","NM_001013631.2","NM_001013631.2:c.345T>G","NP_001013653.1:p.Phe115Leu","NM_001013631.2","2","39.0023","HNRNPCL1","NM_001013631.2","mRNA","mRNA","-","NP_001013653.1","NP_001013653.1","343069","29295",null,"CCDS30591.1","15466","heterogeneous nuclear ribonucleoprotein C-like 1",null,"True","A/C","rs150096254","Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations","134","SNV",{"$nulls":36},"True","esv3585241,esv3585244,esv3585245,esv3585246,esv3585247;esv3585248;esv3585249,esv3585247;esv3585248;esv3585249,esv3585247;esv3585248;esv3585249","Loss,Loss,Loss,Loss,Loss,Gain,Gain","<CN0>,<CN0>,<CN0>,<CN0>,<CN0>,<CN2>,<CN3>","DEL_union,DEL_union,DEL_union,DEL_union,DUP_gs,DUP_gs,DUP_gs","EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET","28417,13465,23432,19121,20982,20982,20982","163,175,234,228,334,409,5","0.0325479,0.0349441,0.0467252,0.0455272,0.0666933,0.0816693,0.000998403","5008,5008,5008,5008,5008,5008,5008","159,171,208,198,304,371,5","2,2,13,15,15,19,0","23,68,96,97,110,14,0","0.0331412,0.0979827,0.138329,0.139769,0.158501,0.0201729,0","694,694,694,694,694,694,694","23,68,80,77,90,14,0","0,0,8,10,10,0,0","14,42,41,37,71,54,0","0.01059,0.03177,0.0310136,0.0279879,0.0537065,0.0408472,0","1322,1322,1322,1322,1322,1322,1322","14,40,37,33,67,54,0","0,1,2,2,2,0,0","48,27,39,39,53,67,0","0.0490798,0.0276074,0.0398773,0.0398773,0.0541922,0.0685072,0","978,978,978,978,978,978,978","44,25,33,33,47,63,0","2,1,3,3,3,2,0","29,25,32,31,39,39,1","0.028827,0.0248509,0.0318091,0.0308151,0.0387674,0.0387674,0.000994036","1006,1006,1006,1006,1006,1006,1006","29,25,32,31,39,37,1","0,0,0,0,0,1,0","49,13,26,24,61,235,4","0.0486111,0.0128968,0.0257937,0.0238095,0.0605159,0.233135,0.00396825","1008,1008,1008,1008,1008,1008,1008","49,13,26,24,61,203,4","0,0,0,0,0,16,0"]
["1:12907800","A/G",null,"PASS","0.143498","191,32",223,99,"0/1","HNRNPCL1","missense_variant","Missense","NM_001013631.2","NM_001013631.2:c.343T>C","NP_001013653.1:p.Phe115Leu","NM_001013631.2","2","38.7755","HNRNPCL1","NM_001013631.2","mRNA","mRNA","-","NP_001013653.1","NP_001013653.1","343069","29295",null,"CCDS30591.1","15466","heterogeneous nuclear ribonucleoprotein C-like 1",null,"True","A/G","rs201112865","Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated","137","SNV",{"$nulls":36},"True","esv3585241,esv3585244,esv3585245,esv3585246,esv3585247;esv3585248;esv3585249,esv3585247;esv3585248;esv3585249,esv3585247;esv3585248;esv3585249","Loss,Loss,Loss,Loss,Loss,Gain,Gain","<CN0>,<CN0>,<CN0>,<CN0>,<CN0>,<CN2>,<CN3>","DEL_union,DEL_union,DEL_union,DEL_union,DUP_gs,DUP_gs,DUP_gs","EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET","28417,13465,23432,19121,20982,20982,20982","163,175,234,228,334,409,5","0.0325479,0.0349441,0.0467252,0.0455272,0.0666933,0.0816693,0.000998403","5008,5008,5008,5008,5008,5008,5008","159,171,208,198,304,371,5","2,2,13,15,15,19,0","23,68,96,97,110,14,0","0.0331412,0.0979827,0.138329,0.139769,0.158501,0.0201729,0","694,694,694,694,694,694,694","23,68,80,77,90,14,0","0,0,8,10,10,0,0","14,42,41,37,71,54,0","0.01059,0.03177,0.0310136,0.0279879,0.0537065,0.0408472,0","1322,1322,1322,1322,1322,1322,1322","14,40,37,33,67,54,0","0,1,2,2,2,0,0","48,27,39,39,53,67,0","0.0490798,0.0276074,0.0398773,0.0398773,0.0541922,0.0685072,0","978,978,978,978,978,978,978","44,25,33,33,47,63,0","2,1,3,3,3,2,0","29,25,32,31,39,39,1","0.028827,0.0248509,0.0318091,0.0308151,0.0387674,0.0387674,0.000994036","1006,1006,1006,1006,1006,1006,1006","29,25,32,31,39,37,1","0,0,0,0,0,1,0","49,13,26,24,61,235,4","0.0486111,0.0128968,0.0257937,0.0238095,0.0605159,0.233135,0.00396825","1008,1008,1008,1008,1008,1008,1008","49,13,26,24,61,203,4","0,0,0,0,0,16,0"]
["1:12907802","C/T",null,"FS60,SOR3","0.462222","121,104",225,99,"0/1","HNRNPCL1","missense_variant","Missense","NM_001013631.2","NM_001013631.2:c.341G>A","NP_001013653.1:p.Gly114Asp","NM_001013631.2","2","38.5488","HNRNPCL1","NM_001013631.2","mRNA","mRNA","-","NP_001013653.1","NP_001013653.1","343069","29295",null,"CCDS30591.1","15466","heterogeneous nuclear ribonucleoprotein C-like 1",null,"True","C/T","rs138087690","Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations","134","SNV",{"$nulls":36},"True","esv3585241,esv3585244,esv3585245,esv3585246,esv3585247;esv3585248;esv3585249,esv3585247;esv3585248;esv3585249,esv3585247;esv3585248;esv3585249","Loss,Loss,Loss,Loss,Loss,Gain,Gain","<CN0>,<CN0>,<CN0>,<CN0>,<CN0>,<CN2>,<CN3>","DEL_union,DEL_union,DEL_union,DEL_union,DUP_gs,DUP_gs,DUP_gs","EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET","28417,13465,23432,19121,20982,20982,20982","163,175,234,228,334,409,5","0.0325479,0.0349441,0.0467252,0.0455272,0.0666933,0.0816693,0.000998403","5008,5008,5008,5008,5008,5008,5008","159,171,208,198,304,371,5","2,2,13,15,15,19,0","23,68,96,97,110,14,0","0.0331412,0.0979827,0.138329,0.139769,0.158501,0.0201729,0","694,694,694,694,694,694,694","23,68,80,77,90,14,0","0,0,8,10,10,0,0","14,42,41,37,71,54,0","0.01059,0.03177,0.0310136,0.0279879,0.0537065,0.0408472,0","1322,1322,1322,1322,1322,1322,1322","14,40,37,33,67,54,0","0,1,2,2,2,0,0","48,27,39,39,53,67,0","0.0490798,0.0276074,0.0398773,0.0398773,0.0541922,0.0685072,0","978,978,978,978,978,978,978","44,25,33,33,47,63,0","2,1,3,3,3,2,0","29,25,32,31,39,39,1","0.028827,0.0248509,0.0318091,0.0308151,0.0387674,0.0387674,0.000994036","1006,1006,1006,1006,1006,1006,1006","29,25,32,31,39,37,1","0,0,0,0,0,1,0","49,13,26,24,61,235,4","0.0486111,0.0128968,0.0257937,0.0238095,0.0605159,0.233135,0.00396825","1008,1008,1008,1008,1008,1008,1008","49,13,26,24,61,203,4","0,0,0,0,0,16,0"]
["1:12907803","C/T",null,"FS60,SOR3","0.462222","121,104",225,99,"0/1","HNRNPCL1","missense_variant","Missense","NM_001013631.2","NM_001013631.2:c.340G>A","NP_001013653.1:p.Gly114Ser","NM_001013631.2","2","38.4354","HNRNPCL1","NM_001013631.2","mRNA","mRNA","-","NP_001013653.1","NP_001013653.1","343069","29295",null,"CCDS30591.1","15466","heterogeneous nuclear ribonucleoprotein C-like 1",null,"True","C/T","rs141460546","Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated","134","SNV",{"$nulls":36},"True","esv3585241,esv3585244,esv3585245,esv3585246,esv3585247;esv3585248;esv3585249,esv3585247;esv3585248;esv3585249,esv3585247;esv3585248;esv3585249","Loss,Loss,Loss,Loss,Loss,Gain,Gain","<CN0>,<CN0>,<CN0>,<CN0>,<CN0>,<CN2>,<CN3>","DEL_union,DEL_union,DEL_union,DEL_union,DUP_gs,DUP_gs,DUP_gs","EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET","28417,13465,23432,19121,20982,20982,20982","163,175,234,228,334,409,5","0.0325479,0.0349441,0.0467252,0.0455272,0.0666933,0.0816693,0.000998403","5008,5008,5008,5008,5008,5008,5008","159,171,208,198,304,371,5","2,2,13,15,15,19,0","23,68,96,97,110,14,0","0.0331412,0.0979827,0.138329,0.139769,0.158501,0.0201729,0","694,694,694,694,694,694,694","23,68,80,77,90,14,0","0,0,8,10,10,0,0","14,42,41,37,71,54,0","0.01059,0.03177,0.0310136,0.0279879,0.0537065,0.0408472,0","1322,1322,1322,1322,1322,1322,1322","14,40,37,33,67,54,0","0,1,2,2,2,0,0","48,27,39,39,53,67,0","0.0490798,0.0276074,0.0398773,0.0398773,0.0541922,0.0685072,0","978,978,978,978,978,978,978","44,25,33,33,47,63,0","2,1,3,3,3,2,0","29,25,32,31,39,39,1","0.028827,0.0248509,0.0318091,0.0308151,0.0387674,0.0387674,0.000994036","1006,1006,1006,1006,1006,1006,1006","29,25,32,31,39,37,1","0,0,0,0,0,1,0","49,13,26,24,61,235,4","0.0486111,0.0128968,0.0257937,0.0238095,0.0605159,0.233135,0.00396825","1008,1008,1008,1008,1008,1008,1008","49,13,26,24,61,203,4","0,0,0,0,0,16,0"]
["1:12908236","G/T",null,"PASS","0.642857","70,126",196,99,"0/1","HNRNPCL1","5_prime_UTR_variant","Other","NM_001013631.2","NM_001013631.2:c.-94C>A",null,"NM_001013631.2","2",null,"HNRNPCL1","NM_001013631.2","mRNA","mRNA","-","NP_001013653.1","NP_001013653.1","343069","29295",null,"CCDS30591.1","15466","heterogeneous nuclear ribonucleoprotein C-like 1",null,"True","G/T","rs1736809","RS orientation is reversed,Has SubmitterLinkOut,In 5' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Genotypes available","89","SNV",{"$nulls":36},"True","esv3585241,esv3585244,esv3585245,esv3585246,esv3585247;esv3585248;esv3585249,esv3585247;esv3585248;esv3585249,esv3585247;esv3585248;esv3585249","Loss,Loss,Loss,Loss,Loss,Gain,Gain","<CN0>,<CN0>,<CN0>,<CN0>,<CN0>,<CN2>,<CN3>","DEL_union,DEL_union,DEL_union,DEL_union,DUP_gs,DUP_gs,DUP_gs","EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET","28417,13465,23432,19121,20982,20982,20982","163,175,234,228,334,409,5","0.0325479,0.0349441,0.0467252,0.0455272,0.0666933,0.0816693,0.000998403","5008,5008,5008,5008,5008,5008,5008","159,171,208,198,304,371,5","2,2,13,15,15,19,0","23,68,96,97,110,14,0","0.0331412,0.0979827,0.138329,0.139769,0.158501,0.0201729,0","694,694,694,694,694,694,694","23,68,80,77,90,14,0","0,0,8,10,10,0,0","14,42,41,37,71,54,0","0.01059,0.03177,0.0310136,0.0279879,0.0537065,0.0408472,0","1322,1322,1322,1322,1322,1322,1322","14,40,37,33,67,54,0","0,1,2,2,2,0,0","48,27,39,39,53,67,0","0.0490798,0.0276074,0.0398773,0.0398773,0.0541922,0.0685072,0","978,978,978,978,978,978,978","44,25,33,33,47,63,0","2,1,3,3,3,2,0","29,25,32,31,39,39,1","0.028827,0.0248509,0.0318091,0.0308151,0.0387674,0.0387674,0.000994036","1006,1006,1006,1006,1006,1006,1006","29,25,32,31,39,37,1","0,0,0,0,0,1,0","49,13,26,24,61,235,4","0.0486111,0.0128968,0.0257937,0.0238095,0.0605159,0.233135,0.00396825","1008,1008,1008,1008,1008,1008,1008","49,13,26,24,61,203,4","0,0,0,0,0,16,0"]
["1:12908243","A/G",null,"PASS","0.640449","64,114",178,99,"0/1","HNRNPCL1","5_prime_UTR_variant","Other","NM_001013631.2","NM_001013631.2:c.-101T>C",null,"NM_001013631.2","2",null,"HNRNPCL1","NM_001013631.2","mRNA","mRNA","-","NP_001013653.1","NP_001013653.1","343069","29295",null,"CCDS30591.1","15466","heterogeneous nuclear ribonucleoprotein C-like 1",null,"True","A/G","rs1736808","RS orientation is reversed,Has SubmitterLinkOut,In 5' UTR,Is Assembly specific,Is Validated,Genotypes available","89","SNV",{"$nulls":36},"True","esv3585241,esv3585244,esv3585245,esv3585246,esv3585247;esv3585248;esv3585249,esv3585247;esv3585248;esv3585249,esv3585247;esv3585248;esv3585249","Loss,Loss,Loss,Loss,Loss,Gain,Gain","<CN0>,<CN0>,<CN0>,<CN0>,<CN0>,<CN2>,<CN3>","DEL_union,DEL_union,DEL_union,DEL_union,DUP_gs,DUP_gs,DUP_gs","EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET","28417,13465,23432,19121,20982,20982,20982","163,175,234,228,334,409,5","0.0325479,0.0349441,0.0467252,0.0455272,0.0666933,0.0816693,0.000998403","5008,5008,5008,5008,5008,5008,5008","159,171,208,198,304,371,5","2,2,13,15,15,19,0","23,68,96,97,110,14,0","0.0331412,0.0979827,0.138329,0.139769,0.158501,0.0201729,0","694,694,694,694,694,694,694","23,68,80,77,90,14,0","0,0,8,10,10,0,0","14,42,41,37,71,54,0","0.01059,0.03177,0.0310136,0.0279879,0.0537065,0.0408472,0","1322,1322,1322,1322,1322,1322,1322","14,40,37,33,67,54,0","0,1,2,2,2,0,0","48,27,39,39,53,67,0","0.0490798,0.0276074,0.0398773,0.0398773,0.0541922,0.0685072,0","978,978,978,978,978,978,978","44,25,33,33,47,63,0","2,1,3,3,3,2,0","29,25,32,31,39,39,1","0.028827,0.0248509,0.0318091,0.0308151,0.0387674,0.0387674,0.000994036","1006,1006,1006,1006,1006,1006,1006","29,25,32,31,39,37,1","0,0,0,0,0,1,0","49,13,26,24,61,235,4","0.0486111,0.0128968,0.0257937,0.0238095,0.0605159,0.233135,0.00396825","1008,1008,1008,1008,1008,1008,1008","49,13,26,24,61,203,4","0,0,0,0,0,16,0"]
["1:12919574","T/A",null,"FS60,QD2,SOR3","0.0947867","191,20",211,99,"0/1","PRAMEF2","stop_gained","LoF","NM_023014.1","NM_023014.1:c.314T>A","NP_075390.1:p.Leu105Ter","NM_023014.1","3","21.9649","PRAMEF2","NM_023014.1","mRNA","mRNA","+","NP_075390.1","NP_075390.1","65122","28841",null,"CCDS149.1","11273","PRAME family member 2",null,"True","T/A","rs78738981","Has non-synonymous nonsense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,Genotypes available","131","SNV",{"$nulls":36},"True","esv3585244,esv3585245,esv3585246,esv3585247;esv3585248;esv3585249,esv3585247;esv3585248;esv3585249,esv3585247;esv3585248;esv3585249","Loss,Loss,Loss,Loss,Gain,Gain","<CN0>,<CN0>,<CN0>,<CN0>,<CN2>,<CN3>","DEL_union,DEL_union,DEL_union,DUP_gs,DUP_gs,DUP_gs","EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET","13465,23432,19121,20982,20982,20982","175,234,228,334,409,5","0.0349441,0.0467252,0.0455272,0.0666933,0.0816693,0.000998403","5008,5008,5008,5008,5008,5008","171,208,198,304,371,5","2,13,15,15,19,0","68,96,97,110,14,0","0.0979827,0.138329,0.139769,0.158501,0.0201729,0","694,694,694,694,694,694","68,80,77,90,14,0","0,8,10,10,0,0","42,41,37,71,54,0","0.03177,0.0310136,0.0279879,0.0537065,0.0408472,0","1322,1322,1322,1322,1322,1322","40,37,33,67,54,0","1,2,2,2,0,0","27,39,39,53,67,0","0.0276074,0.0398773,0.0398773,0.0541922,0.0685072,0","978,978,978,978,978,978","25,33,33,47,63,0","1,3,3,3,2,0","25,32,31,39,39,1","0.0248509,0.0318091,0.0308151,0.0387674,0.0387674,0.000994036","1006,1006,1006,1006,1006,1006","25,32,31,39,37,1","0,0,0,0,1,0","13,26,24,61,235,4","0.0128968,0.0257937,0.0238095,0.0605159,0.233135,0.00396825","1008,1008,1008,1008,1008,1008","13,26,24,61,203,4","0,0,0,0,16,0"]
["1:12919589","A/G",null,"QD2,SOR3","0.088785","195,19",214,99,"0/1","PRAMEF2","missense_variant","Missense","NM_023014.1","NM_023014.1:c.329A>G","NP_075390.1:p.Glu110Gly","NM_023014.1","3","23.0175","PRAMEF2","NM_023014.1","mRNA","mRNA","+","NP_075390.1","NP_075390.1","65122","28841",null,"CCDS149.1","11273","PRAME family member 2",null,"True","A/G","rs367740116","Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,1000 Genome phase 3","138","SNV","0.9852,0.01478","True","A/G","rs367740116","EX_TARGET",20210,"74","0.0147764",5008,68,3,"32","0.0461095",694,26,3,"4","0.00302572",1322,4,0,"6","0.00613497",978,6,0,"16","0.0159046",1006,16,0,"16","0.015873",1008,16,0,"True","esv3585244,esv3585245,esv3585246,esv3585247;esv3585248;esv3585249,esv3585247;esv3585248;esv3585249,esv3585247;esv3585248;esv3585249","Loss,Loss,Loss,Loss,Gain,Gain","<CN0>,<CN0>,<CN0>,<CN0>,<CN2>,<CN3>","DEL_union,DEL_union,DEL_union,DUP_gs,DUP_gs,DUP_gs","EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET","13465,23432,19121,20982,20982,20982","175,234,228,334,409,5","0.0349441,0.0467252,0.0455272,0.0666933,0.0816693,0.000998403","5008,5008,5008,5008,5008,5008","171,208,198,304,371,5","2,13,15,15,19,0","68,96,97,110,14,0","0.0979827,0.138329,0.139769,0.158501,0.0201729,0","694,694,694,694,694,694","68,80,77,90,14,0","0,8,10,10,0,0","42,41,37,71,54,0","0.03177,0.0310136,0.0279879,0.0537065,0.0408472,0","1322,1322,1322,1322,1322,1322","40,37,33,67,54,0","1,2,2,2,0,0","27,39,39,53,67,0","0.0276074,0.0398773,0.0398773,0.0541922,0.0685072,0","978,978,978,978,978,978","25,33,33,47,63,0","1,3,3,3,2,0","25,32,31,39,39,1","0.0248509,0.0318091,0.0308151,0.0387674,0.0387674,0.000994036","1006,1006,1006,1006,1006,1006","25,32,31,39,37,1","0,0,0,0,1,0","13,26,24,61,235,4","0.0128968,0.0257937,0.0238095,0.0605159,0.233135,0.00396825","1008,1008,1008,1008,1008,1008","13,26,24,61,203,4","0,0,0,0,16,0"]
["1:12919642","G/A",null,"FS60,SOR3","0.15","204,36",240,99,"0/1","PRAMEF2","missense_variant","Missense","NM_023014.1","NM_023014.1:c.382G>A","NP_075390.1:p.Ala128Thr","NM_023014.1","3","26.7368","PRAMEF2","NM_023014.1","mRNA","mRNA","+","NP_075390.1","NP_075390.1","65122","28841",null,"CCDS149.1","11273","PRAME family member 2",null,"True","G/A","rs142476002","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,1000 Genome phase 3","137","SNV","0.9902,0.009784","True","G/A","rs142476002","EX_TARGET",22498,"49","0.00978434",5008,47,1,"16","0.0230548",694,14,1,"8","0.00605144",1322,8,0,"4","0.00408998",978,4,0,"9","0.00894632",1006,9,0,"12","0.0119048",1008,12,0,"True","esv3585244,esv3585245,esv3585246,esv3585247;esv3585248;esv3585249,esv3585247;esv3585248;esv3585249,esv3585247;esv3585248;esv3585249","Loss,Loss,Loss,Loss,Gain,Gain","<CN0>,<CN0>,<CN0>,<CN0>,<CN2>,<CN3>","DEL_union,DEL_union,DEL_union,DUP_gs,DUP_gs,DUP_gs","EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET","13465,23432,19121,20982,20982,20982","175,234,228,334,409,5","0.0349441,0.0467252,0.0455272,0.0666933,0.0816693,0.000998403","5008,5008,5008,5008,5008,5008","171,208,198,304,371,5","2,13,15,15,19,0","68,96,97,110,14,0","0.0979827,0.138329,0.139769,0.158501,0.0201729,0","694,694,694,694,694,694","68,80,77,90,14,0","0,8,10,10,0,0","42,41,37,71,54,0","0.03177,0.0310136,0.0279879,0.0537065,0.0408472,0","1322,1322,1322,1322,1322,1322","40,37,33,67,54,0","1,2,2,2,0,0","27,39,39,53,67,0","0.0276074,0.0398773,0.0398773,0.0541922,0.0685072,0","978,978,978,978,978,978","25,33,33,47,63,0","1,3,3,3,2,0","25,32,31,39,39,1","0.0248509,0.0318091,0.0308151,0.0387674,0.0387674,0.000994036","1006,1006,1006,1006,1006,1006","25,32,31,39,37,1","0,0,0,0,1,0","13,26,24,61,235,4","0.0128968,0.0257937,0.0238095,0.0605159,0.233135,0.00396825","1008,1008,1008,1008,1008,1008","13,26,24,61,203,4","0,0,0,0,16,0"]
["1:12919672","T/C",null,"FS60,SOR3","0.133065","215,33",248,99,"0/1","PRAMEF2","missense_variant","Missense","NM_023014.1","NM_023014.1:c.412T>C","NP_075390.1:p.Cys138Arg","NM_023014.1","3","28.8421","PRAMEF2","NM_023014.1","mRNA","mRNA","+","NP_075390.1","NP_075390.1","65122","28841",null,"CCDS149.1","11273","PRAME family member 2",null,"True","T/C","rs139382628","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated","137","SNV",{"$nulls":36},"True","esv3585244,esv3585245,esv3585246,esv3585247;esv3585248;esv3585249,esv3585247;esv3585248;esv3585249,esv3585247;esv3585248;esv3585249","Loss,Loss,Loss,Loss,Gain,Gain","<CN0>,<CN0>,<CN0>,<CN0>,<CN2>,<CN3>","DEL_union,DEL_union,DEL_union,DUP_gs,DUP_gs,DUP_gs","EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET","13465,23432,19121,20982,20982,20982","175,234,228,334,409,5","0.0349441,0.0467252,0.0455272,0.0666933,0.0816693,0.000998403","5008,5008,5008,5008,5008,5008","171,208,198,304,371,5","2,13,15,15,19,0","68,96,97,110,14,0","0.0979827,0.138329,0.139769,0.158501,0.0201729,0","694,694,694,694,694,694","68,80,77,90,14,0","0,8,10,10,0,0","42,41,37,71,54,0","0.03177,0.0310136,0.0279879,0.0537065,0.0408472,0","1322,1322,1322,1322,1322,1322","40,37,33,67,54,0","1,2,2,2,0,0","27,39,39,53,67,0","0.0276074,0.0398773,0.0398773,0.0541922,0.0685072,0","978,978,978,978,978,978","25,33,33,47,63,0","1,3,3,3,2,0","25,32,31,39,39,1","0.0248509,0.0318091,0.0308151,0.0387674,0.0387674,0.000994036","1006,1006,1006,1006,1006,1006","25,32,31,39,37,1","0,0,0,0,1,0","13,26,24,61,235,4","0.0128968,0.0257937,0.0238095,0.0605159,0.233135,0.00396825","1008,1008,1008,1008,1008,1008","13,26,24,61,203,4","0,0,0,0,16,0"]
["1:12919682","C/T",null,"FS60,SOR3","0.123506","220,31",251,99,"0/1","PRAMEF2","missense_variant","Missense","NM_023014.1","NM_023014.1:c.422C>T","NP_075390.1:p.Thr141Met","NM_023014.1","3","29.5439","PRAMEF2","NM_023014.1","mRNA","mRNA","+","NP_075390.1","NP_075390.1","65122","28841",null,"CCDS149.1","11273","PRAME family member 2",null,"True","C/T","rs17038667","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,1000 Genome phase 3","123","SNV","0.9948,0.005192","True","C/T","rs202143308","EX_TARGET",21797,"26","0.00519169",5008,26,0,"9","0.0129683",694,9,0,"2","0.00151286",1322,2,0,"6","0.00613497",978,6,0,"5","0.00497018",1006,5,0,"4","0.00396825",1008,4,0,"True","esv3585244,esv3585245,esv3585246,esv3585247;esv3585248;esv3585249,esv3585247;esv3585248;esv3585249,esv3585247;esv3585248;esv3585249","Loss,Loss,Loss,Loss,Gain,Gain","<CN0>,<CN0>,<CN0>,<CN0>,<CN2>,<CN3>","DEL_union,DEL_union,DEL_union,DUP_gs,DUP_gs,DUP_gs","EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET","13465,23432,19121,20982,20982,20982","175,234,228,334,409,5","0.0349441,0.0467252,0.0455272,0.0666933,0.0816693,0.000998403","5008,5008,5008,5008,5008,5008","171,208,198,304,371,5","2,13,15,15,19,0","68,96,97,110,14,0","0.0979827,0.138329,0.139769,0.158501,0.0201729,0","694,694,694,694,694,694","68,80,77,90,14,0","0,8,10,10,0,0","42,41,37,71,54,0","0.03177,0.0310136,0.0279879,0.0537065,0.0408472,0","1322,1322,1322,1322,1322,1322","40,37,33,67,54,0","1,2,2,2,0,0","27,39,39,53,67,0","0.0276074,0.0398773,0.0398773,0.0541922,0.0685072,0","978,978,978,978,978,978","25,33,33,47,63,0","1,3,3,3,2,0","25,32,31,39,39,1","0.0248509,0.0318091,0.0308151,0.0387674,0.0387674,0.000994036","1006,1006,1006,1006,1006,1006","25,32,31,39,37,1","0,0,0,0,1,0","13,26,24,61,235,4","0.0128968,0.0257937,0.0238095,0.0605159,0.233135,0.00396825","1008,1008,1008,1008,1008,1008","13,26,24,61,203,4","0,0,0,0,16,0"]
["1:12921600","C/T",null,"PASS","0.213439","199,54",253,99,"0/1","PRAMEF2","missense_variant","Missense","NM_023014.1","NM_023014.1:c.1391C>T","NP_075390.1:p.Pro464Leu","NM_023014.1","4","97.5439","PRAMEF2","NM_023014.1","mRNA","mRNA","+","NP_075390.1","NP_075390.1","65122","28841",null,"CCDS149.1","11273","PRAME family member 2",null,"True","C/T","rs2982215","RS orientation is reversed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated","101","SNV",{"$nulls":36},"True","esv3585244,esv3585245,esv3585246","Loss,Loss,Loss","<CN0>,<CN0>,<CN0>","DEL_union,DEL_union,DEL_union","EX_TARGET,EX_TARGET,EX_TARGET","13465,23432,19121","175,234,228","0.0349441,0.0467252,0.0455272","5008,5008,5008","171,208,198","2,13,15","68,96,97","0.0979827,0.138329,0.139769","694,694,694","68,80,77","0,8,10","42,41,37","0.03177,0.0310136,0.0279879","1322,1322,1322","40,37,33","1,2,2","27,39,39","0.0276074,0.0398773,0.0398773","978,978,978","25,33,33","1,3,3","25,32,31","0.0248509,0.0318091,0.0308151","1006,1006,1006","25,32,31","0,0,0","13,26,24","0.0128968,0.0257937,0.0238095","1008,1008,1008","13,26,24","0,0,0"]
["1:12921642","G/A",null,"PASS","0.205645","197,51",248,99,"0/1","PRAMEF2","3_prime_UTR_variant","Other","NM_023014.1","NM_023014.1:c.*8G>A",null,"NM_023014.1","4",null,"PRAMEF2","NM_023014.1","mRNA","mRNA","+","NP_075390.1","NP_075390.1","65122","28841",null,"CCDS149.1","11273","PRAME family member 2",null,"True","G/A","rs2994093","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available","101","SNV",{"$nulls":36},"True","esv3585244,esv3585245,esv3585246","Loss,Loss,Loss","<CN0>,<CN0>,<CN0>","DEL_union,DEL_union,DEL_union","EX_TARGET,EX_TARGET,EX_TARGET","13465,23432,19121","175,234,228","0.0349441,0.0467252,0.0455272","5008,5008,5008","171,208,198","2,13,15","68,96,97","0.0979827,0.138329,0.139769","694,694,694","68,80,77","0,8,10","42,41,37","0.03177,0.0310136,0.0279879","1322,1322,1322","40,37,33","1,2,2","27,39,39","0.0276074,0.0398773,0.0398773","978,978,978","25,33,33","1,3,3","25,32,31","0.0248509,0.0318091,0.0308151","1006,1006,1006","25,32,31","0,0,0","13,26,24","0.0128968,0.0257937,0.0238095","1008,1008,1008","13,26,24","0,0,0"]
["1:12921716","A/G",null,"PASS","0.359223","132,74",206,99,"0/1","PRAMEF2","3_prime_UTR_variant","Other","NM_023014.1","NM_023014.1:c.*82A>G",null,"NM_023014.1","4",null,"PRAMEF2","NM_023014.1","mRNA","mRNA","+","NP_075390.1","NP_075390.1","65122","28841",null,"CCDS149.1","11273","PRAME family member 2",null,"True","A/G","rs2994094","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific","101","SNV",{"$nulls":36},"True","esv3585244,esv3585245,esv3585246","Loss,Loss,Loss","<CN0>,<CN0>,<CN0>","DEL_union,DEL_union,DEL_union","EX_TARGET,EX_TARGET,EX_TARGET","13465,23432,19121","175,234,228","0.0349441,0.0467252,0.0455272","5008,5008,5008","171,208,198","2,13,15","68,96,97","0.0979827,0.138329,0.139769","694,694,694","68,80,77","0,8,10","42,41,37","0.03177,0.0310136,0.0279879","1322,1322,1322","40,37,33","1,2,2","27,39,39","0.0276074,0.0398773,0.0398773","978,978,978","25,33,33","1,3,3","25,32,31","0.0248509,0.0318091,0.0308151","1006,1006,1006","25,32,31","0,0,0","13,26,24","0.0128968,0.0257937,0.0238095","1008,1008,1008","13,26,24","0,0,0"]
["1:12939159","C/T",null,"MQ40","0.147541","52,9",61,70,"0/1","PRAMEF4","3_prime_UTR_variant","Other","NM_001009611.4","NM_001009611.4:c.*206G>A",null,"NM_001009611.4","4",null,"PRAMEF4","NM_001009611.4","mRNA","mRNA","-","NP_001009611.2","NP_001009611.2","400735","31971",null,"CCDS30592.1",null,"PRAME family member 4",null,"True","C/T","rs909650","RS orientation is reversed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,Genotypes available,1000 Genome phase 1","92","SNV",{"$nulls":36},"True","esv3585245,esv3585250","Loss,Loss","<CN0>,<CN0>","DEL_union,DEL_union","EX_TARGET,EX_TARGET","23432,17628","234,55","0.0467252,0.0109824","5008,5008","208,55","13,0","96,2","0.138329,0.00288184","694,694","80,2","8,0","41,46","0.0310136,0.0347958","1322,1322","37,46","2,0","39,2","0.0398773,0.00204499","978,978","33,2","3,0","32,0","0.0318091,0","1006,1006","32,0","0,0","26,5","0.0257937,0.00496032","1008,1008","26,5","0,0"]
["1:12939210","G/T",null,"MQ40","0.174603","52,11",63,99,"0/1","PRAMEF4","3_prime_UTR_variant","Other","NM_001009611.4","NM_001009611.4:c.*155C>A",null,"NM_001009611.4","4",null,"PRAMEF4","NM_001009611.4","mRNA","mRNA","-","NP_001009611.2","NP_001009611.2","400735","31971",null,"CCDS30592.1",null,"PRAME family member 4",null,"True","G/A/T","rs909649","RS orientation is reversed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,Genotypes available,1000 Genome phase 3","92","SNV","0.9113,,0.08866","True","G/T","rs4992639",null,21154,"444","0.0886581",5008,340,52,"33","0.0475504",694,27,3,"279","0.211044",1322,193,43,"63","0.0644172",978,61,1,"61","0.0606362",1006,53,4,"8","0.00793651",1008,6,1,"True","esv3585245,esv3585250","Loss,Loss","<CN0>,<CN0>","DEL_union,DEL_union","EX_TARGET,EX_TARGET","23432,17628","234,55","0.0467252,0.0109824","5008,5008","208,55","13,0","96,2","0.138329,0.00288184","694,694","80,2","8,0","41,46","0.0310136,0.0347958","1322,1322","37,46","2,0","39,2","0.0398773,0.00204499","978,978","33,2","3,0","32,0","0.0318091,0","1006,1006","32,0","0,0","26,5","0.0257937,0.00496032","1008,1008","26,5","0,0"]
["1:12942173","C/G",null,"QD2,SOR3","0.0829694","210,19",229,99,"0/1","PRAMEF4","missense_variant","Missense","NM_001009611.4","NM_001009611.4:c.377G>C","NP_001009611.2:p.Cys126Ser","NM_001009611.4","3","26.1656","PRAMEF4","NM_001009611.4","mRNA","mRNA","-","NP_001009611.2","NP_001009611.2","400735","31971",null,"CCDS30592.1",null,"PRAME family member 4",null,"True","C/A/G/T","rs201789683","Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,RS cluster has non-overlapping allele sets","137","SNV",{"$nulls":36},"True","esv3585245,esv3585250","Loss,Loss","<CN0>,<CN0>","DEL_union,DEL_union","EX_TARGET,EX_TARGET","23432,17628","234,55","0.0467252,0.0109824","5008,5008","208,55","13,0","96,2","0.138329,0.00288184","694,694","80,2","8,0","41,46","0.0310136,0.0347958","1322,1322","37,46","2,0","39,2","0.0398773,0.00204499","978,978","33,2","3,0","32,0","0.0318091,0","1006,1006","32,0","0,0","26,5","0.0257937,0.00496032","1008,1008","26,5","0,0"]
["1:12942179","T/C",null,"FS60,QD2,SOR3","0.0877193","208,20",228,99,"0/1","PRAMEF4","missense_variant","Missense","NM_001009611.4","NM_001009611.4:c.371A>G","NP_001009611.2:p.His124Arg","NM_001009611.4","3","25.7481","PRAMEF4","NM_001009611.4","mRNA","mRNA","-","NP_001009611.2","NP_001009611.2","400735","31971",null,"CCDS30592.1",null,"PRAME family member 4",null,"True","T/C/G","rs2486697","RS orientation is reversed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,5% minor allele frequency in 1+ populations,Genotypes available","111","SNV",{"$nulls":36},"True","esv3585245,esv3585250","Loss,Loss","<CN0>,<CN0>","DEL_union,DEL_union","EX_TARGET,EX_TARGET","23432,17628","234,55","0.0467252,0.0109824","5008,5008","208,55","13,0","96,2","0.138329,0.00288184","694,694","80,2","8,0","41,46","0.0310136,0.0347958","1322,1322","37,46","2,0","39,2","0.0398773,0.00204499","978,978","33,2","3,0","32,0","0.0318091,0","1006,1006","32,0","0,0","26,5","0.0257937,0.00496032","1008,1008","26,5","0,0"]
["1:13001186","C/T",null,"MQ40","0.641732","91,163",254,99,"0/1","PRAMEF6","missense_variant","Missense","NM_001010889.2","NM_001010889.2:c.497G>A","NP_001010889.1:p.Cys166Tyr","NM_001010889.2","3","34.6611","PRAMEF6","NM_001010889.2","mRNA","mRNA","-","NP_001010889.1","NP_001010889.1","440561","30583",null,"CCDS30594.1","17358","PRAME family member 6",null,"True","C/T","rs7419099","RS orientation is reversed,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations","116","SNV",{"$nulls":36},"True","esv3585250","Loss","<CN0>","DEL_union","EX_TARGET","17628","55","0.0109824","5008","55","0","2","0.00288184","694","2","0","46","0.0347958","1322","46","0","2","0.00204499","978","2","0","0","0","1006","0","0","5","0.00496032","1008","5","0"]
["1:13001312","C/G",null,"PASS","0.629938","178,303",481,99,"0/1","PRAMEF6","missense_variant","Missense","NM_001010889.2","NM_001010889.2:c.371G>C","NP_001010889.1:p.Cys124Ser","NM_001010889.2","3","25.856","PRAMEF6","NM_001010889.2","mRNA","mRNA","-","NP_001010889.1","NP_001010889.1","440561","30583",null,"CCDS30594.1","17358","PRAME family member 6",null,"True","C/G","rs61779367","Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations","129","SNV",{"$nulls":36},"True","esv3585250","Loss","<CN0>","DEL_union","EX_TARGET","17628","55","0.0109824","5008","55","0","2","0.00288184","694","2","0","46","0.0347958","1322","46","0","2","0.00204499","978","2","0","0","0","1006","0","0","5","0.00496032","1008","5","0"]
["1:13036294","G/T",null,"QD2,SOR3","0.178571","46,10",56,99,"0/1","PRAMEF18","missense_variant","Missense","NM_001099850.2","NM_001099850.2:c.360G>T","NP_001093320.2:p.Arg120Ser","NM_001099850.2","2","24.9306","PRAMEF18","NM_001099850.2","mRNA","mRNA","+","NP_001093320.2","NP_001093320.2","391003","30693",null,"CCDS41258.1",null,"PRAME family member 18",null,"True","G/T","rs74527051","Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Genotypes available,1000 Genome phase 3","131","SNV","0.9908,0.009185","True","G/T","rs200761485","EX_TARGET",13318,"46","0.0091853",5008,46,0,"12","0.0172911",694,12,0,"0","0",1322,0,0,"4","0.00408998",978,4,0,"24","0.0238569",1006,24,0,"6","0.00595238",1008,6,0,"True","esv3585250","Loss","<CN0>","DEL_union","EX_TARGET","17628","55","0.0109824","5008","55","0","2","0.00288184","694","2","0","46","0.0347958","1322","46","0","2","0.00204499","978","2","0","0","0","1006","0","0","5","0.00496032","1008","5","0"]
["1:13036296","C/T",null,"FS60,MQ40,SOR3","0.615385","20,32",52,99,"0/1","PRAMEF18","missense_variant","Missense","NM_001099850.2","NM_001099850.2:c.362C>T","NP_001093320.2:p.Pro121Leu","NM_001099850.2","2","25.0694","PRAMEF18","NM_001099850.2","mRNA","mRNA","+","NP_001093320.2","NP_001093320.2","391003","30693",null,"CCDS41258.1",null,"PRAME family member 18",null,"True","C/T","rs80264629","Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 3","131","SNV","0.9169,0.08307","True","C/T","rs201492352","EX_TARGET",12781,"416","0.0830671",5008,398,9,"31","0.0446686",694,29,1,"107","0.080938",1322,103,2,"102","0.104294",978,100,1,"69","0.0685885",1006,67,1,"107","0.106151",1008,99,4,"True","esv3585250","Loss","<CN0>","DEL_union","EX_TARGET","17628","55","0.0109824","5008","55","0","2","0.00288184","694","2","0","46","0.0347958","1322","46","0","2","0.00204499","978","2","0","0","0","1006","0","0","5","0.00496032","1008","5","0"]
["1:13038350","T/C",null,"MQ40","0.333333","12,6",18,99,"0/1","PRAMEF18","missense_variant","Missense","NM_001099850.2","NM_001099850.2:c.1409T>C","NP_001093320.2:p.Phe470Ser","NM_001099850.2","3","97.7778","PRAMEF18","NM_001099850.2","mRNA","mRNA","+","NP_001093320.2","NP_001093320.2","391003","30693",null,"CCDS41258.1",null,"PRAME family member 18",null,"False",{"$nulls":41},"True","esv3585250","Loss","<CN0>","DEL_union","EX_TARGET","17628","55","0.0109824","5008","55","0","2","0.00288184","694","2","0","46","0.0347958","1322","46","0","2","0.00204499","978","2","0","0","0","1006","0","0","5","0.00496032","1008","5","0"]
["1:13183014","T/C",null,"SOR3","0.145349","147,25",172,99,"0/1","HNRNPCL2","missense_variant","Missense","NM_001136561.3","NM_001136561.3:c.859A>G","NP_001130033.3:p.Thr287Ala","NM_001136561.3","2","97.2789","HNRNPCL2","NM_001136561.3","mRNA","mRNA","-","NP_001130033.3","NP_001130033.3","440563","48813",null,"CCDS76105.1",null,"heterogeneous nuclear ribonucleoprotein C-like 2",null,"True","T/C","rs143348790","Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,1000 Genome phase 3","134","SNV","0.9994,0.000599","True","T/C","rs143348790",null,20214,"3","0.000599042",5008,3,0,"0","0",694,0,0,"2","0.00151286",1322,2,0,"0","0",978,0,0,"0","0",1006,0,0,"1","0.000992064",1008,1,0,"True","esv3585255,esv3585256;esv3585257,esv3585256;esv3585257","Loss,Loss,Gain","<CN0>,<CN0>,<CN2>","DEL_union,DUP_gs,DUP_gs","EX_TARGET,EX_TARGET,EX_TARGET","23400,20114,20114","41,65,18","0.0081869,0.0129792,0.00359425","5008,5008,5008","39,63,16","1,1,1","0,1,0","0,0.00144092,0","694,694,694","0,1,0","0,0,0","33,49,5","0.0249622,0.0370651,0.00378215","1322,1322,1322","31,47,5","1,1,0","3,6,8","0.00306748,0.00613497,0.00817996","978,978,978","3,6,6","0,0,1","2,4,1","0.00198807,0.00397614,0.000994036","1006,1006,1006","2,4,1","0,0,0","3,5,4","0.00297619,0.00496032,0.00396825","1008,1008,1008","3,5,4","0,0,0"]
["1:13183015","G/C",null,"SOR3","0.138728","149,24",173,99,"0/1","HNRNPCL2","missense_variant","Missense","NM_001136561.3","NM_001136561.3:c.858C>G","NP_001130033.3:p.Ser286Arg","NM_001136561.3","2","97.1655","HNRNPCL2","NM_001136561.3","mRNA","mRNA","-","NP_001130033.3","NP_001130033.3","440563","48813",null,"CCDS76105.1",null,"heterogeneous nuclear ribonucleoprotein C-like 2",null,"True","G/C","rs140373284","Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,Marker on high density genotype kit (50K+),1000 Genome phase 3","134","SNV","0.9994,0.000599","True","G/C","rs140373284",null,20136,"3","0.000599042",5008,3,0,"0","0",694,0,0,"2","0.00151286",1322,2,0,"0","0",978,0,0,"0","0",1006,0,0,"1","0.000992064",1008,1,0,"True","esv3585255,esv3585256;esv3585257,esv3585256;esv3585257","Loss,Loss,Gain","<CN0>,<CN0>,<CN2>","DEL_union,DUP_gs,DUP_gs","EX_TARGET,EX_TARGET,EX_TARGET","23400,20114,20114","41,65,18","0.0081869,0.0129792,0.00359425","5008,5008,5008","39,63,16","1,1,1","0,1,0","0,0.00144092,0","694,694,694","0,1,0","0,0,0","33,49,5","0.0249622,0.0370651,0.00378215","1322,1322,1322","31,47,5","1,1,0","3,6,8","0.00306748,0.00613497,0.00817996","978,978,978","3,6,6","0,0,1","2,4,1","0.00198807,0.00397614,0.000994036","1006,1006,1006","2,4,1","0,0,0","3,5,4","0.00297619,0.00496032,0.00396825","1008,1008,1008","3,5,4","0,0,0"]
["1:13183026","T/C",null,"QD2,SOR3","0.111765","151,19",170,99,"0/1","HNRNPCL2","missense_variant","Missense","NM_001136561.3","NM_001136561.3:c.847A>G","NP_001130033.3:p.Asn283Asp","NM_001136561.3","2","95.9184","HNRNPCL2","NM_001136561.3","mRNA","mRNA","-","NP_001130033.3","NP_001130033.3","440563","48813",null,"CCDS76105.1",null,"heterogeneous nuclear ribonucleoprotein C-like 2",null,"True","T/C","rs114277542","Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,1000 Genome phase 3","134","SNV","0.9994,0.000599","True","T/C","rs114277542",null,20110,"3","0.000599042",5008,3,0,"0","0",694,0,0,"2","0.00151286",1322,2,0,"0","0",978,0,0,"0","0",1006,0,0,"1","0.000992064",1008,1,0,"True","esv3585255,esv3585256;esv3585257,esv3585256;esv3585257","Loss,Loss,Gain","<CN0>,<CN0>,<CN2>","DEL_union,DUP_gs,DUP_gs","EX_TARGET,EX_TARGET,EX_TARGET","23400,20114,20114","41,65,18","0.0081869,0.0129792,0.00359425","5008,5008,5008","39,63,16","1,1,1","0,1,0","0,0.00144092,0","694,694,694","0,1,0","0,0,0","33,49,5","0.0249622,0.0370651,0.00378215","1322,1322,1322","31,47,5","1,1,0","3,6,8","0.00306748,0.00613497,0.00817996","978,978,978","3,6,6","0,0,1","2,4,1","0.00198807,0.00397614,0.000994036","1006,1006,1006","2,4,1","0,0,0","3,5,4","0.00297619,0.00496032,0.00396825","1008,1008,1008","3,5,4","0,0,0"]
["1:13183109","T/C",null,"QD2","0.12766","123,18",141,99,"0/1","HNRNPCL2","missense_variant","Missense","NM_001136561.3","NM_001136561.3:c.764A>G","NP_001130033.3:p.Asp255Gly","NM_001136561.3","2","86.5079","HNRNPCL2","NM_001136561.3","mRNA","mRNA","-","NP_001130033.3","NP_001130033.3","440563","48813",null,"CCDS76105.1",null,"heterogeneous nuclear ribonucleoprotein C-like 2",null,"True","T/C","rs369043510","Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations","138","SNV",{"$nulls":36},"True","esv3585255,esv3585256;esv3585257,esv3585256;esv3585257","Loss,Loss,Gain","<CN0>,<CN0>,<CN2>","DEL_union,DUP_gs,DUP_gs","EX_TARGET,EX_TARGET,EX_TARGET","23400,20114,20114","41,65,18","0.0081869,0.0129792,0.00359425","5008,5008,5008","39,63,16","1,1,1","0,1,0","0,0.00144092,0","694,694,694","0,1,0","0,0,0","33,49,5","0.0249622,0.0370651,0.00378215","1322,1322,1322","31,47,5","1,1,0","3,6,8","0.00306748,0.00613497,0.00817996","978,978,978","3,6,6","0,0,1","2,4,1","0.00198807,0.00397614,0.000994036","1006,1006,1006","2,4,1","0,0,0","3,5,4","0.00297619,0.00496032,0.00396825","1008,1008,1008","3,5,4","0,0,0"]
["1:13183110","C/A",null,"QD2","0.12766","123,18",141,99,"0/1","HNRNPCL2","missense_variant","Missense","NM_001136561.3","NM_001136561.3:c.763G>T","NP_001130033.3:p.Asp255Tyr","NM_001136561.3","2","86.3946","HNRNPCL2","NM_001136561.3","mRNA","mRNA","-","NP_001130033.3","NP_001130033.3","440563","48813",null,"CCDS76105.1",null,"heterogeneous nuclear ribonucleoprotein C-like 2",null,"True","C/A","rs371451661","Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations","138","SNV",{"$nulls":36},"True","esv3585255,esv3585256;esv3585257,esv3585256;esv3585257","Loss,Loss,Gain","<CN0>,<CN0>,<CN2>","DEL_union,DUP_gs,DUP_gs","EX_TARGET,EX_TARGET,EX_TARGET","23400,20114,20114","41,65,18","0.0081869,0.0129792,0.00359425","5008,5008,5008","39,63,16","1,1,1","0,1,0","0,0.00144092,0","694,694,694","0,1,0","0,0,0","33,49,5","0.0249622,0.0370651,0.00378215","1322,1322,1322","31,47,5","1,1,0","3,6,8","0.00306748,0.00613497,0.00817996","978,978,978","3,6,6","0,0,1","2,4,1","0.00198807,0.00397614,0.000994036","1006,1006,1006","2,4,1","0,0,0","3,5,4","0.00297619,0.00496032,0.00396825","1008,1008,1008","3,5,4","0,0,0"]
["1:13183115","G/A",null,"QD2,SOR3","0.136691","120,19",139,99,"0/1","HNRNPCL2","missense_variant","Missense","NM_001136561.3","NM_001136561.3:c.758C>T","NP_001130033.3:p.Pro253Leu","NM_001136561.3","2","85.8277","HNRNPCL2","NM_001136561.3","mRNA","mRNA","-","NP_001130033.3","NP_001130033.3","440563","48813",null,"CCDS76105.1",null,"heterogeneous nuclear ribonucleoprotein C-like 2",null,"True","G/A","rs111369527","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available","132","SNV",{"$nulls":36},"True","esv3585255,esv3585256;esv3585257,esv3585256;esv3585257","Loss,Loss,Gain","<CN0>,<CN0>,<CN2>","DEL_union,DUP_gs,DUP_gs","EX_TARGET,EX_TARGET,EX_TARGET","23400,20114,20114","41,65,18","0.0081869,0.0129792,0.00359425","5008,5008,5008","39,63,16","1,1,1","0,1,0","0,0.00144092,0","694,694,694","0,1,0","0,0,0","33,49,5","0.0249622,0.0370651,0.00378215","1322,1322,1322","31,47,5","1,1,0","3,6,8","0.00306748,0.00613497,0.00817996","978,978,978","3,6,6","0,0,1","2,4,1","0.00198807,0.00397614,0.000994036","1006,1006,1006","2,4,1","0,0,0","3,5,4","0.00297619,0.00496032,0.00396825","1008,1008,1008","3,5,4","0,0,0"]
["1:13183130","G/A",null,"SOR3","0.18705","113,26",139,99,"0/1","HNRNPCL2","missense_variant","Missense","NM_001136561.3","NM_001136561.3:c.743C>T","NP_001130033.3:p.Ala248Val","NM_001136561.3","2","84.127","HNRNPCL2","NM_001136561.3","mRNA","mRNA","-","NP_001130033.3","NP_001130033.3","440563","48813",null,"CCDS76105.1",null,"heterogeneous nuclear ribonucleoprotein C-like 2",null,"True","G/A","rs376039645","Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations","138","SNV",{"$nulls":36},"True","esv3585255,esv3585256;esv3585257,esv3585256;esv3585257","Loss,Loss,Gain","<CN0>,<CN0>,<CN2>","DEL_union,DUP_gs,DUP_gs","EX_TARGET,EX_TARGET,EX_TARGET","23400,20114,20114","41,65,18","0.0081869,0.0129792,0.00359425","5008,5008,5008","39,63,16","1,1,1","0,1,0","0,0.00144092,0","694,694,694","0,1,0","0,0,0","33,49,5","0.0249622,0.0370651,0.00378215","1322,1322,1322","31,47,5","1,1,0","3,6,8","0.00306748,0.00613497,0.00817996","978,978,978","3,6,6","0,0,1","2,4,1","0.00198807,0.00397614,0.000994036","1006,1006,1006","2,4,1","0,0,0","3,5,4","0.00297619,0.00496032,0.00396825","1008,1008,1008","3,5,4","0,0,0"]
["1:13183138","T/A",null,"SOR3","0.2","116,29",145,99,"0/1","HNRNPCL2","missense_variant","Missense","NM_001136561.3","NM_001136561.3:c.735A>T","NP_001130033.3:p.Glu245Asp","NM_001136561.3","2","83.22","HNRNPCL2","NM_001136561.3","mRNA","mRNA","-","NP_001130033.3","NP_001130033.3","440563","48813",null,"CCDS76105.1",null,"heterogeneous nuclear ribonucleoprotein C-like 2",null,"True","T/A","rs369308948","Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations","138","SNV",{"$nulls":36},"True","esv3585255,esv3585256;esv3585257,esv3585256;esv3585257","Loss,Loss,Gain","<CN0>,<CN0>,<CN2>","DEL_union,DUP_gs,DUP_gs","EX_TARGET,EX_TARGET,EX_TARGET","23400,20114,20114","41,65,18","0.0081869,0.0129792,0.00359425","5008,5008,5008","39,63,16","1,1,1","0,1,0","0,0.00144092,0","694,694,694","0,1,0","0,0,0","33,49,5","0.0249622,0.0370651,0.00378215","1322,1322,1322","31,47,5","1,1,0","3,6,8","0.00306748,0.00613497,0.00817996","978,978,978","3,6,6","0,0,1","2,4,1","0.00198807,0.00397614,0.000994036","1006,1006,1006","2,4,1","0,0,0","3,5,4","0.00297619,0.00496032,0.00396825","1008,1008,1008","3,5,4","0,0,0"]
["1:13183176","C/T",null,"FS60,SOR3","0.319444","98,46",144,99,"0/1","HNRNPCL2","missense_variant","Missense","NM_001136561.3","NM_001136561.3:c.697G>A","NP_001130033.3:p.Glu233Lys","NM_001136561.3","2","78.9116","HNRNPCL2","NM_001136561.3","mRNA","mRNA","-","NP_001130033.3","NP_001130033.3","440563","48813",null,"CCDS76105.1",null,"heterogeneous nuclear ribonucleoprotein C-like 2",null,"True","C/T","rs115395118","Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations","134","SNV",{"$nulls":36},"True","esv3585255,esv3585256;esv3585257,esv3585256;esv3585257","Loss,Loss,Gain","<CN0>,<CN0>,<CN2>","DEL_union,DUP_gs,DUP_gs","EX_TARGET,EX_TARGET,EX_TARGET","23400,20114,20114","41,65,18","0.0081869,0.0129792,0.00359425","5008,5008,5008","39,63,16","1,1,1","0,1,0","0,0.00144092,0","694,694,694","0,1,0","0,0,0","33,49,5","0.0249622,0.0370651,0.00378215","1322,1322,1322","31,47,5","1,1,0","3,6,8","0.00306748,0.00613497,0.00817996","978,978,978","3,6,6","0,0,1","2,4,1","0.00198807,0.00397614,0.000994036","1006,1006,1006","2,4,1","0,0,0","3,5,4","0.00297619,0.00496032,0.00396825","1008,1008,1008","3,5,4","0,0,0"]
["1:13183187","A/G",null,"FS60,SOR3","0.319444","98,46",144,99,"0/1","HNRNPCL2","missense_variant","Missense","NM_001136561.3","NM_001136561.3:c.686T>C","NP_001130033.3:p.Met229Thr","NM_001136561.3","2","77.6644","HNRNPCL2","NM_001136561.3","mRNA","mRNA","-","NP_001130033.3","NP_001130033.3","440563","48813",null,"CCDS76105.1",null,"heterogeneous nuclear ribonucleoprotein C-like 2",null,"True","A/G","rs149345149","Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations","134","SNV",{"$nulls":36},"True","esv3585255,esv3585256;esv3585257,esv3585256;esv3585257","Loss,Loss,Gain","<CN0>,<CN0>,<CN2>","DEL_union,DUP_gs,DUP_gs","EX_TARGET,EX_TARGET,EX_TARGET","23400,20114,20114","41,65,18","0.0081869,0.0129792,0.00359425","5008,5008,5008","39,63,16","1,1,1","0,1,0","0,0.00144092,0","694,694,694","0,1,0","0,0,0","33,49,5","0.0249622,0.0370651,0.00378215","1322,1322,1322","31,47,5","1,1,0","3,6,8","0.00306748,0.00613497,0.00817996","978,978,978","3,6,6","0,0,1","2,4,1","0.00198807,0.00397614,0.000994036","1006,1006,1006","2,4,1","0,0,0","3,5,4","0.00297619,0.00496032,0.00396825","1008,1008,1008","3,5,4","0,0,0"]
["1:13183188","T/A",null,"FS60,SOR3","0.319444","98,46",144,99,"0/1","HNRNPCL2","missense_variant","Missense","NM_001136561.3","NM_001136561.3:c.685A>T","NP_001130033.3:p.Met229Leu","NM_001136561.3","2","77.551","HNRNPCL2","NM_001136561.3","mRNA","mRNA","-","NP_001130033.3","NP_001130033.3","440563","48813",null,"CCDS76105.1",null,"heterogeneous nuclear ribonucleoprotein C-like 2",null,"True","T/A","rs144308453","Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated","134","SNV",{"$nulls":36},"True","esv3585255,esv3585256;esv3585257,esv3585256;esv3585257","Loss,Loss,Gain","<CN0>,<CN0>,<CN2>","DEL_union,DUP_gs,DUP_gs","EX_TARGET,EX_TARGET,EX_TARGET","23400,20114,20114","41,65,18","0.0081869,0.0129792,0.00359425","5008,5008,5008","39,63,16","1,1,1","0,1,0","0,0.00144092,0","694,694,694","0,1,0","0,0,0","33,49,5","0.0249622,0.0370651,0.00378215","1322,1322,1322","31,47,5","1,1,0","3,6,8","0.00306748,0.00613497,0.00817996","978,978,978","3,6,6","0,0,1","2,4,1","0.00198807,0.00397614,0.000994036","1006,1006,1006","2,4,1","0,0,0","3,5,4","0.00297619,0.00496032,0.00396825","1008,1008,1008","3,5,4","0,0,0"]
["1:13183199","C/G",null,"FS60,SOR3","0.329032","104,51",155,99,"0/1","HNRNPCL2","missense_variant","Missense","NM_001136561.3","NM_001136561.3:c.674G>C","NP_001130033.3:p.Ser225Thr","NM_001136561.3","2","76.3039","HNRNPCL2","NM_001136561.3","mRNA","mRNA","-","NP_001130033.3","NP_001130033.3","440563","48813",null,"CCDS76105.1",null,"heterogeneous nuclear ribonucleoprotein C-like 2",null,"True","C/A/G","rs146955784","Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations","134","SNV",{"$nulls":36},"True","esv3585255,esv3585256;esv3585257,esv3585256;esv3585257","Loss,Loss,Gain","<CN0>,<CN0>,<CN2>","DEL_union,DUP_gs,DUP_gs","EX_TARGET,EX_TARGET,EX_TARGET","23400,20114,20114","41,65,18","0.0081869,0.0129792,0.00359425","5008,5008,5008","39,63,16","1,1,1","0,1,0","0,0.00144092,0","694,694,694","0,1,0","0,0,0","33,49,5","0.0249622,0.0370651,0.00378215","1322,1322,1322","31,47,5","1,1,0","3,6,8","0.00306748,0.00613497,0.00817996","978,978,978","3,6,6","0,0,1","2,4,1","0.00198807,0.00397614,0.000994036","1006,1006,1006","2,4,1","0,0,0","3,5,4","0.00297619,0.00496032,0.00396825","1008,1008,1008","3,5,4","0,0,0"]
["1:13183238","T/C",null,"FS60","0.467836","91,80",171,99,"0/1","HNRNPCL2","missense_variant","Missense","NM_001136561.3","NM_001136561.3:c.635A>G","NP_001130033.3:p.Glu212Gly","NM_001136561.3","2","71.8821","HNRNPCL2","NM_001136561.3","mRNA","mRNA","-","NP_001130033.3","NP_001130033.3","440563","48813",null,"CCDS76105.1",null,"heterogeneous nuclear ribonucleoprotein C-like 2",null,"False",{"$nulls":41},"True","esv3585255,esv3585256;esv3585257,esv3585256;esv3585257","Loss,Loss,Gain","<CN0>,<CN0>,<CN2>","DEL_union,DUP_gs,DUP_gs","EX_TARGET,EX_TARGET,EX_TARGET","23400,20114,20114","41,65,18","0.0081869,0.0129792,0.00359425","5008,5008,5008","39,63,16","1,1,1","0,1,0","0,0.00144092,0","694,694,694","0,1,0","0,0,0","33,49,5","0.0249622,0.0370651,0.00378215","1322,1322,1322","31,47,5","1,1,0","3,6,8","0.00306748,0.00613497,0.00817996","978,978,978","3,6,6","0,0,1","2,4,1","0.00198807,0.00397614,0.000994036","1006,1006,1006","2,4,1","0,0,0","3,5,4","0.00297619,0.00496032,0.00396825","1008,1008,1008","3,5,4","0,0,0"]
["1:13183248","T/A",null,"FS60","0.480663","94,87",181,99,"0/1","HNRNPCL2","missense_variant","Missense","NM_001136561.3","NM_001136561.3:c.625A>T","NP_001130033.3:p.Ser209Cys","NM_001136561.3","2","70.7483","HNRNPCL2","NM_001136561.3","mRNA","mRNA","-","NP_001130033.3","NP_001130033.3","440563","48813",null,"CCDS76105.1",null,"heterogeneous nuclear ribonucleoprotein C-like 2",null,"True","T/A","rs79256404","Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available","131","SNV",{"$nulls":36},"True","esv3585255,esv3585256;esv3585257,esv3585256;esv3585257","Loss,Loss,Gain","<CN0>,<CN0>,<CN2>","DEL_union,DUP_gs,DUP_gs","EX_TARGET,EX_TARGET,EX_TARGET","23400,20114,20114","41,65,18","0.0081869,0.0129792,0.00359425","5008,5008,5008","39,63,16","1,1,1","0,1,0","0,0.00144092,0","694,694,694","0,1,0","0,0,0","33,49,5","0.0249622,0.0370651,0.00378215","1322,1322,1322","31,47,5","1,1,0","3,6,8","0.00306748,0.00613497,0.00817996","978,978,978","3,6,6","0,0,1","2,4,1","0.00198807,0.00397614,0.000994036","1006,1006,1006","2,4,1","0,0,0","3,5,4","0.00297619,0.00496032,0.00396825","1008,1008,1008","3,5,4","0,0,0"]
["1:13183249","C/A",null,"FS60","0.480874","95,88",183,99,"0/1","HNRNPCL2","missense_variant","Missense","NM_001136561.3","NM_001136561.3:c.624G>T","NP_001130033.3:p.Gln208His","NM_001136561.3","2","70.6349","HNRNPCL2","NM_001136561.3","mRNA","mRNA","-","NP_001130033.3","NP_001130033.3","440563","48813",null,"CCDS76105.1",null,"heterogeneous nuclear ribonucleoprotein C-like 2",null,"True","C/A","rs139566100","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,1000 Genome phase 3","134","SNV","0.988,0.01198","True","C/A","rs139566100","EX_TARGET",20200,"60","0.0119808",5008,58,1,"13","0.018732",694,13,0,"1","0.00075643",1322,1,0,"14","0.0143149",978,14,0,"31","0.0308151",1006,29,1,"1","0.000992064",1008,1,0,"True","esv3585255,esv3585256;esv3585257,esv3585256;esv3585257","Loss,Loss,Gain","<CN0>,<CN0>,<CN2>","DEL_union,DUP_gs,DUP_gs","EX_TARGET,EX_TARGET,EX_TARGET","23400,20114,20114","41,65,18","0.0081869,0.0129792,0.00359425","5008,5008,5008","39,63,16","1,1,1","0,1,0","0,0.00144092,0","694,694,694","0,1,0","0,0,0","33,49,5","0.0249622,0.0370651,0.00378215","1322,1322,1322","31,47,5","1,1,0","3,6,8","0.00306748,0.00613497,0.00817996","978,978,978","3,6,6","0,0,1","2,4,1","0.00198807,0.00397614,0.000994036","1006,1006,1006","2,4,1","0,0,0","3,5,4","0.00297619,0.00496032,0.00396825","1008,1008,1008","3,5,4","0,0,0"]
["1:13183511","T/C",null,"PASS","0.530864","114,129",243,99,"0/1","HNRNPCL2","missense_variant","Missense","NM_001136561.3","NM_001136561.3:c.362A>G","NP_001130033.3:p.Asp121Gly","NM_001136561.3","2","40.9297","HNRNPCL2","NM_001136561.3","mRNA","mRNA","-","NP_001130033.3","NP_001130033.3","440563","48813",null,"CCDS76105.1",null,"heterogeneous nuclear ribonucleoprotein C-like 2",null,"True","T/C","rs1737105","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available","89","SNV",{"$nulls":36},"True","esv3585255,esv3585256;esv3585257,esv3585256;esv3585257","Loss,Loss,Gain","<CN0>,<CN0>,<CN2>","DEL_union,DUP_gs,DUP_gs","EX_TARGET,EX_TARGET,EX_TARGET","23400,20114,20114","41,65,18","0.0081869,0.0129792,0.00359425","5008,5008,5008","39,63,16","1,1,1","0,1,0","0,0.00144092,0","694,694,694","0,1,0","0,0,0","33,49,5","0.0249622,0.0370651,0.00378215","1322,1322,1322","31,47,5","1,1,0","3,6,8","0.00306748,0.00613497,0.00817996","978,978,978","3,6,6","0,0,1","2,4,1","0.00198807,0.00397614,0.000994036","1006,1006,1006","2,4,1","0,0,0","3,5,4","0.00297619,0.00496032,0.00396825","1008,1008,1008","3,5,4","0,0,0"]
["1:13183528","A/C",null,"PASS","0.486239","112,106",218,99,"0/1","HNRNPCL2","missense_variant","Missense","NM_001136561.3","NM_001136561.3:c.345T>G","NP_001130033.3:p.Phe115Leu","NM_001136561.3","2","39.0023","HNRNPCL2","NM_001136561.3","mRNA","mRNA","-","NP_001130033.3","NP_001130033.3","440563","48813",null,"CCDS76105.1",null,"heterogeneous nuclear ribonucleoprotein C-like 2",null,"True","A/C","rs76937665","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available","131","SNV",{"$nulls":36},"True","esv3585255,esv3585256;esv3585257,esv3585256;esv3585257","Loss,Loss,Gain","<CN0>,<CN0>,<CN2>","DEL_union,DUP_gs,DUP_gs","EX_TARGET,EX_TARGET,EX_TARGET","23400,20114,20114","41,65,18","0.0081869,0.0129792,0.00359425","5008,5008,5008","39,63,16","1,1,1","0,1,0","0,0.00144092,0","694,694,694","0,1,0","0,0,0","33,49,5","0.0249622,0.0370651,0.00378215","1322,1322,1322","31,47,5","1,1,0","3,6,8","0.00306748,0.00613497,0.00817996","978,978,978","3,6,6","0,0,1","2,4,1","0.00198807,0.00397614,0.000994036","1006,1006,1006","2,4,1","0,0,0","3,5,4","0.00297619,0.00496032,0.00396825","1008,1008,1008","3,5,4","0,0,0"]
["1:13183530","A/G",null,"PASS","0.102326","193,22",215,99,"0/1","HNRNPCL2","missense_variant","Missense","NM_001136561.3","NM_001136561.3:c.343T>C","NP_001130033.3:p.Phe115Leu","NM_001136561.3","2","38.7755","HNRNPCL2","NM_001136561.3","mRNA","mRNA","-","NP_001130033.3","NP_001130033.3","440563","48813",null,"CCDS76105.1",null,"heterogeneous nuclear ribonucleoprotein C-like 2",null,"True","A/G","rs200046163","Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations","137","SNV",{"$nulls":36},"True","esv3585255,esv3585256;esv3585257,esv3585256;esv3585257","Loss,Loss,Gain","<CN0>,<CN0>,<CN2>","DEL_union,DUP_gs,DUP_gs","EX_TARGET,EX_TARGET,EX_TARGET","23400,20114,20114","41,65,18","0.0081869,0.0129792,0.00359425","5008,5008,5008","39,63,16","1,1,1","0,1,0","0,0.00144092,0","694,694,694","0,1,0","0,0,0","33,49,5","0.0249622,0.0370651,0.00378215","1322,1322,1322","31,47,5","1,1,0","3,6,8","0.00306748,0.00613497,0.00817996","978,978,978","3,6,6","0,0,1","2,4,1","0.00198807,0.00397614,0.000994036","1006,1006,1006","2,4,1","0,0,0","3,5,4","0.00297619,0.00496032,0.00396825","1008,1008,1008","3,5,4","0,0,0"]
["1:13183532","C/T",null,"PASS","0.470046","115,102",217,99,"0/1","HNRNPCL2","missense_variant","Missense","NM_001136561.3","NM_001136561.3:c.341G>A","NP_001130033.3:p.Gly114Asp","NM_001136561.3","2","38.5488","HNRNPCL2","NM_001136561.3","mRNA","mRNA","-","NP_001130033.3","NP_001130033.3","440563","48813",null,"CCDS76105.1",null,"heterogeneous nuclear ribonucleoprotein C-like 2",null,"True","C/T","rs77505369","Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available","131","SNV",{"$nulls":36},"True","esv3585255,esv3585256;esv3585257,esv3585256;esv3585257","Loss,Loss,Gain","<CN0>,<CN0>,<CN2>","DEL_union,DUP_gs,DUP_gs","EX_TARGET,EX_TARGET,EX_TARGET","23400,20114,20114","41,65,18","0.0081869,0.0129792,0.00359425","5008,5008,5008","39,63,16","1,1,1","0,1,0","0,0.00144092,0","694,694,694","0,1,0","0,0,0","33,49,5","0.0249622,0.0370651,0.00378215","1322,1322,1322","31,47,5","1,1,0","3,6,8","0.00306748,0.00613497,0.00817996","978,978,978","3,6,6","0,0,1","2,4,1","0.00198807,0.00397614,0.000994036","1006,1006,1006","2,4,1","0,0,0","3,5,4","0.00297619,0.00496032,0.00396825","1008,1008,1008","3,5,4","0,0,0"]
["1:13183533","C/T",null,"PASS","0.471963","113,101",214,99,"0/1","HNRNPCL2","missense_variant","Missense","NM_001136561.3","NM_001136561.3:c.340G>A","NP_001130033.3:p.Gly114Ser","NM_001136561.3","2","38.4354","HNRNPCL2","NM_001136561.3","mRNA","mRNA","-","NP_001130033.3","NP_001130033.3","440563","48813",null,"CCDS76105.1",null,"heterogeneous nuclear ribonucleoprotein C-like 2",null,"True","C/T","rs77556803","Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available","131","SNV",{"$nulls":36},"True","esv3585255,esv3585256;esv3585257,esv3585256;esv3585257","Loss,Loss,Gain","<CN0>,<CN0>,<CN2>","DEL_union,DUP_gs,DUP_gs","EX_TARGET,EX_TARGET,EX_TARGET","23400,20114,20114","41,65,18","0.0081869,0.0129792,0.00359425","5008,5008,5008","39,63,16","1,1,1","0,1,0","0,0.00144092,0","694,694,694","0,1,0","0,0,0","33,49,5","0.0249622,0.0370651,0.00378215","1322,1322,1322","31,47,5","1,1,0","3,6,8","0.00306748,0.00613497,0.00817996","978,978,978","3,6,6","0,0,1","2,4,1","0.00198807,0.00397614,0.000994036","1006,1006,1006","2,4,1","0,0,0","3,5,4","0.00297619,0.00496032,0.00396825","1008,1008,1008","3,5,4","0,0,0"]
["1:13183631","A/T",null,"FS60,SOR3","0.143939","113,19",132,99,"0/1","HNRNPCL2","missense_variant","Missense","NM_001136561.3","NM_001136561.3:c.242T>A","NP_001130033.3:p.Val81Asp","NM_001136561.3","2","27.3243","HNRNPCL2","NM_001136561.3","mRNA","mRNA","-","NP_001130033.3","NP_001130033.3","440563","48813",null,"CCDS76105.1",null,"heterogeneous nuclear ribonucleoprotein C-like 2",null,"True","A/T","rs80009603","Has 3D structure,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 3","131","SNV","0.9671,0.03295","True","A/T","rs80009603","EX_TARGET",17952,"165","0.0329473",5008,135,15,"12","0.0172911",694,12,0,"7","0.00529501",1322,7,0,"20","0.0204499",978,18,1,"35","0.0347913",1006,31,2,"91","0.0902778",1008,67,12,"True","esv3585255,esv3585256;esv3585257,esv3585256;esv3585257","Loss,Loss,Gain","<CN0>,<CN0>,<CN2>","DEL_union,DUP_gs,DUP_gs","EX_TARGET,EX_TARGET,EX_TARGET","23400,20114,20114","41,65,18","0.0081869,0.0129792,0.00359425","5008,5008,5008","39,63,16","1,1,1","0,1,0","0,0.00144092,0","694,694,694","0,1,0","0,0,0","33,49,5","0.0249622,0.0370651,0.00378215","1322,1322,1322","31,47,5","1,1,0","3,6,8","0.00306748,0.00613497,0.00817996","978,978,978","3,6,6","0,0,1","2,4,1","0.00198807,0.00397614,0.000994036","1006,1006,1006","2,4,1","0,0,0","3,5,4","0.00297619,0.00496032,0.00396825","1008,1008,1008","3,5,4","0,0,0"]
["1:13183634","G/A",null,"FS60,SOR3","0.141791","115,19",134,99,"0/1","HNRNPCL2","missense_variant","Missense","NM_001136561.3","NM_001136561.3:c.239C>T","NP_001130033.3:p.Ala80Val","NM_001136561.3","2","26.9841","HNRNPCL2","NM_001136561.3","mRNA","mRNA","-","NP_001130033.3","NP_001130033.3","440563","48813",null,"CCDS76105.1",null,"heterogeneous nuclear ribonucleoprotein C-like 2",null,"True","G/A","rs2982225","Has 3D structure,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 3","101","SNV","0.9671,0.03295","True","G/A","rs2982225","EX_TARGET",17919,"165","0.0329473",5008,135,15,"12","0.0172911",694,12,0,"7","0.00529501",1322,7,0,"20","0.0204499",978,18,1,"35","0.0347913",1006,31,2,"91","0.0902778",1008,67,12,"True","esv3585255,esv3585256;esv3585257,esv3585256;esv3585257","Loss,Loss,Gain","<CN0>,<CN0>,<CN2>","DEL_union,DUP_gs,DUP_gs","EX_TARGET,EX_TARGET,EX_TARGET","23400,20114,20114","41,65,18","0.0081869,0.0129792,0.00359425","5008,5008,5008","39,63,16","1,1,1","0,1,0","0,0.00144092,0","694,694,694","0,1,0","0,0,0","33,49,5","0.0249622,0.0370651,0.00378215","1322,1322,1322","31,47,5","1,1,0","3,6,8","0.00306748,0.00613497,0.00817996","978,978,978","3,6,6","0,0,1","2,4,1","0.00198807,0.00397614,0.000994036","1006,1006,1006","2,4,1","0,0,0","3,5,4","0.00297619,0.00496032,0.00396825","1008,1008,1008","3,5,4","0,0,0"]
["1:13219149","G/A",null,"MQ40","0.261566","415,147",562,99,"0/1","PRAMEF25","missense_variant","Missense","NM_001310134.1","NM_001310134.1:c.436C>T","NP_001297063.1:p.?","NM_001310134.1","1","37.925","PRAMEF25","NM_001310134.1","mRNA","mRNA","-","NP_001297063.1","NP_001297063.1","441873","49179",null,"CCDS81265.1",null,"pRAME family member 25",null,"True","G/A,G/A","rs2023352,rs61780824","RS orientation is reversed,Has reference A coding region,Has synonymous A coding region,Has other variant with exactly the same set of mapped positions on NCBI refernce assembly,Is Assembly specific,Has reference A coding region,Has synonymous A coding region,Has other variant with exactly the same set of mapped positions on NCBI refernce assembly,Is Assembly specific,Is Validated","124,129","SNV,SNV",null,",",{"$nulls":34},"False"]
["1:13366043","T/C",null,"MQ40","0.8","2,8",10,29,"0/1","PRAMEF5","missense_variant","Missense","NM_001013407.2","NM_001013407.2:c.487T>C","NP_001013425.2:p.Tyr163His","NM_001013407.2","3","33.9623","PRAMEF5","NM_001013407.2","mRNA","mRNA","+","NP_001013425.2","NP_001013425.2","343068","27995",null,"CCDS72708.1",null,"PRAME family member 5",null,"True","T/C","rs796209113","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific","146","SNV",{"$nulls":36},"False"]
["1:13368530","G/C",null,"MQ40","0.8","1,4",5,15,"0/1","PRAMEF5","missense_variant","Missense","NM_001013407.2","NM_001013407.2:c.1228G>C","NP_001013425.2:p.Val410Leu","NM_001013407.2","4","85.7442","PRAMEF5","NM_001013407.2","mRNA","mRNA","+","NP_001013425.2","NP_001013425.2","343068","27995",null,"CCDS72708.1",null,"PRAME family member 5",null,"False",{"$nulls":41},"False"]
["1:13413926","A/G",null,"MQ40","0.759259","13,41",54,99,"0/1","PRAMEF33P","missense_variant","Missense","NM_001291381.1","NM_001291381.1:c.869A>G","NP_001278310.1:p.Tyr290Cys","NM_001291381.1","4","60.9123","PRAMEF33P","NM_001291381.1","mRNA","mRNA","+","NP_001278310.1","NP_001278310.1","645382","49193",{"$nulls":3},"PRAME family member 33, pseudogene",null,"True","A/G","rs866085728","Has SubmitterLinkOut,Is Assembly specific,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,1000 Genome phase 3","147","SNV","0.6152,0.3848","True","A/G","rs202107783","EX_TARGET",19052,"1927","0.384784",5008,1365,281,"307","0.442363",694,233,37,"252","0.19062",1322,234,9,"416","0.425358",978,306,55,"473","0.470179",1006,301,86,"479","0.475198",1008,291,94,"False"]
["1:13447650","C/T",null,"MQ40,QUAL30","0.333333","4,2",6,45,"0/1","PRAMEF13","3_prime_UTR_variant","Other","NM_001291380.1","NM_001291380.1:c.*400G>A",null,"NM_001291380.1","4",null,"PRAMEF13","NM_001291380.1","mRNA","mRNA","-","NP_001278309.1","NP_001278309.1","400736","13262",{"$nulls":3},"PRAME family member-like",null,"True","C/T","rs78339578","In 3' UTR,Is Assembly specific,Genotypes available","131","SNV",{"$nulls":36},"False"]
["1:13447737","T/C",null,"MQ40","0.5","3,3",6,99,"0/1","PRAMEF13","3_prime_UTR_variant","Other","NM_001291380.1","NM_001291380.1:c.*313A>G",null,"NM_001291380.1","4",null,"PRAMEF13","NM_001291380.1","mRNA","mRNA","-","NP_001278309.1","NP_001278309.1","400736","13262",{"$nulls":3},"PRAME family member-like",null,"True","T/C","rs2359282","In 3' UTR,Is Assembly specific,Is Validated,1000 Genome phase 3","100","SNV","0.9992,0.0007987","False","T/C","rs2359282",null,12686,"4","0.000798722",5008,4,0,"0","0",694,0,0,"0","0",1322,0,0,"3","0.00306748",978,3,0,"0","0",1006,0,0,"1","0.000992064",1008,1,0,"False"]
["1:13447844","T/C",null,"MQ40","0.5","4,4",8,99,"0/1","PRAMEF13","3_prime_UTR_variant","Other","NM_001291380.1","NM_001291380.1:c.*206A>G",null,"NM_001291380.1","4",null,"PRAMEF13","NM_001291380.1","mRNA","mRNA","-","NP_001278309.1","NP_001278309.1","400736","13262",{"$nulls":3},"PRAME family member-like",null,"False",{"$nulls":41},"False"]
["1:13447968","T/C",null,"MQ40","0.75","1,3",4,20,"0/1","PRAMEF13","3_prime_UTR_variant","Other","NM_001291380.1","NM_001291380.1:c.*82A>G",null,"NM_001291380.1","4",null,"PRAMEF13","NM_001291380.1","mRNA","mRNA","-","NP_001278309.1","NP_001278309.1","400736","13262",{"$nulls":3},"PRAME family member-like",null,"False",{"$nulls":41},"False"]
["1:13448034","G/A",null,"FS60,MQ40,SOR3","0.666667","2,4",6,63,"0/1","PRAMEF13","3_prime_UTR_variant","Other","NM_001291380.1","NM_001291380.1:c.*16C>T",null,"NM_001291380.1","4",null,"PRAMEF13","NM_001291380.1","mRNA","mRNA","-","NP_001278309.1","NP_001278309.1","400736","13262",{"$nulls":3},"PRAME family member-like",null,"True","G/A","rs6673689","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available","116","SNV",{"$nulls":36},"False"]
["1:13448037","A/G",null,"FS60,MQ40,SOR3","0.666667","2,4",6,63,"0/1","PRAMEF13","3_prime_UTR_variant","Other","NM_001291380.1","NM_001291380.1:c.*13T>C",null,"NM_001291380.1","4",null,"PRAMEF13","NM_001291380.1","mRNA","mRNA","-","NP_001278309.1","NP_001278309.1","400736","13262",{"$nulls":3},"PRAME family member-like",null,"False",{"$nulls":41},"False"]
["1:13448042","C/T",null,"FS60,MQ40,SOR3","0.75","2,6",8,57,"0/1","PRAMEF13","3_prime_UTR_variant","Other","NM_001291380.1","NM_001291380.1:c.*8G>A",null,"NM_001291380.1","4",null,"PRAMEF13","NM_001291380.1","mRNA","mRNA","-","NP_001278309.1","NP_001278309.1","400736","13262",{"$nulls":3},"PRAME family member-like",null,"True","C/T","rs6700521","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available","116","SNV",{"$nulls":36},"False"]
["1:13448084","G/A",null,"FS60,MQ40,SOR3","0.866667","2,13",15,18,"0/1","PRAMEF13","missense_variant","Missense","NM_001291380.1","NM_001291380.1:c.1391C>T","NP_001278309.1:p.Pro464Leu","NM_001291380.1","4","97.5439","PRAMEF13","NM_001291380.1","mRNA","mRNA","-","NP_001278309.1","NP_001278309.1","400736","13262",{"$nulls":3},"PRAME family member-like",null,"False",{"$nulls":41},"False"]
["1:13448185","G/C",null,"MQ40","0.230769","30,9",39,99,"0/1","PRAMEF13","missense_variant","Missense","NM_001291380.1","NM_001291380.1:c.1290C>G","NP_001278309.1:p.Phe430Leu","NM_001291380.1","4","90.4561","PRAMEF13","NM_001291380.1","mRNA","mRNA","-","NP_001278309.1","NP_001278309.1","400736","13262",{"$nulls":3},"PRAME family member-like",null,"True","G/C","rs574843281","Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,1000 Genome phase 3","142","SNV","0.4133,0.5867","True","G/C","rs574843281","EX_TARGET",8791,"2938","0.586661",5008,1162,888,"522","0.752161",694,140,191,"335","0.253404",1322,255,40,"619","0.632924",978,281,169,"717","0.712724",1006,257,230,"745","0.739087",1008,229,258,"False"]
["1:13668897","C/T",null,"MQ40","0.5","16,16",32,99,"0/1","PRAMEF14","3_prime_UTR_variant","Other","NM_001024661.2","NM_001024661.2:c.*8G>A",null,"NM_001024661.2","4",null,"PRAMEF14","NM_001024661.2","mRNA","mRNA","-","NP_001019832.2","NP_001019832.2","729528","13576",null,"CCDS76109.1",null,"PRAME family member 14",null,"True","C/T","rs201889405","In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,1000 Genome phase 3","137","SNV","0.9491,0.05092","True","C/T","rs201889405","EX_TARGET",9272,"255","0.0509185",5008,201,27,"22","0.0317003",694,20,1,"7","0.00529501",1322,5,1,"167","0.170757",978,125,21,"28","0.027833",1006,26,1,"31","0.030754",1008,25,3,"False"]
["1:13802224","G/A",null,"PASS","0.363636","42,24",66,99,"0/1","LRRC38","3_prime_UTR_variant","Other","NM_001010847.1","NM_001010847.1:c.*90C>T",null,"NM_001010847.1","2",null,"LRRC38","NM_001010847.1","mRNA","mRNA","-","NP_001010847.1","NP_001010847.1","126755","27005","615212","CCDS53269.1",null,"leucine-rich repeat-containing protein 38 precursor",null,"True","G/A","rs3795750","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","107","SNV","0.6522,0.3478","True","G/A","rs3795750",null,21081,"1742","0.347843",5008,1024,359,"200","0.288184",694,144,28,"237","0.179274",1322,189,24,"326","0.333333",978,228,49,"356","0.353877",1006,224,66,"623","0.618056",1008,239,192,"True","esv3585258","Loss","<CN0>","DEL_union",null,"14802","1","0.000199681","5008","1","0","0","0","694","0","0","0","0","1322","0","0","0","0","978","0","0","0","0","1006","0","0","1","0.000992064","1008","1","0"]
["1:13802325","T/C",null,"PASS","0.417582","53,38",91,99,"0/1","LRRC38","missense_variant","Missense","NM_001010847.1","NM_001010847.1:c.874A>G","NP_001010847.1:p.Lys292Glu","NM_001010847.1","2","98.6441","LRRC38","NM_001010847.1","mRNA","mRNA","-","NP_001010847.1","NP_001010847.1","126755","27005","615212","CCDS53269.1",null,"leucine-rich repeat-containing protein 38 precursor",null,"True","T/C","rs3013105","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","101","SNV","0.5379,0.4621","True","T/C","rs3013105",null,20308,"2314","0.462061",5008,1216,549,"233","0.335735",694,153,40,"693","0.524206",1322,355,169,"377","0.385481",978,235,71,"386","0.383698",1006,236,75,"625","0.62004",1008,237,194,"True","esv3585258","Loss","<CN0>","DEL_union",null,"14802","1","0.000199681","5008","1","0","0","0","694","0","0","0","0","1322","0","0","0","0","978","0","0","0","0","1006","0","0","1","0.000992064","1008","1","0"]
["1:14105139","T/A",null,"PASS","0.388889","44,28",72,99,"0/1","PRDM2","missense_variant","Missense","NM_012231.4","NM_012231.4:c.849T>A","NP_036363.2:p.Asp283Glu","NM_001135610.1,NM_015866.4,NM_012231.4,NM_001007257.2","6,8,8,3",",16.7954,16.4437,5.51057","PRDM2,PRDM2,PRDM2,PRDM2","NM_001135610.1,NM_015866.4,NM_012231.4,NM_001007257.2","mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA","+,+,+,+","NP_001129082.1,NP_056950.2,NP_036363.2,NP_001007258.1","NP_001129082.1,NP_056950.2,NP_036363.2,NP_001007258.1","7799,7799,7799,7799","9347,9347,9347,9347","601196,601196,601196,601196","CCDS44061.1,CCDS151.1,CCDS150.1,CCDS30603.1","03120,03120,03120,03120","PR domain zinc finger protein 2 isoform d,PR domain zinc finger protein 2 isoform b,PR domain zinc finger protein 2 isoform a,PR domain zinc finger protein 2 isoform c",",,,","True","T/A","rs2076324","RS orientation is reversed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","96","SNV","0.6288,0.3712","True","T/A","rs2076324","EX_TARGET",20316,"1859","0.371206",5008,1089,385,"373","0.537464",694,159,107,"275","0.208018",1322,233,21,"480","0.490798",978,256,112,"329","0.327038",1006,217,56,"402","0.39881",1008,224,89,"False"]
["1:14107012","G/A",null,"PASS","0.444444","55,44",99,99,"0/1","PRDM2","missense_variant","Missense","NM_012231.4","NM_012231.4:c.2722G>A","NP_036363.2:p.Asp908Asn","NM_001135610.1,NM_015866.4,NM_012231.4,NM_001007257.2","6,8,8,3",",53.8919,52.7632,47.6383","PRDM2,PRDM2,PRDM2,PRDM2","NM_001135610.1,NM_015866.4,NM_012231.4,NM_001007257.2","mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA","+,+,+,+","NP_001129082.1,NP_056950.2,NP_036363.2,NP_001007258.1","NP_001129082.1,NP_056950.2,NP_036363.2,NP_001007258.1","7799,7799,7799,7799","9347,9347,9347,9347","601196,601196,601196,601196","CCDS44061.1,CCDS151.1,CCDS150.1,CCDS30603.1","03120,03120,03120,03120","PR domain zinc finger protein 2 isoform d,PR domain zinc finger protein 2 isoform b,PR domain zinc finger protein 2 isoform a,PR domain zinc finger protein 2 isoform c",",,,","False",{"$nulls":41},"False"]
["1:14143003","A/G",null,"PASS","0.518987","38,41",79,99,"0/1","PRDM2","missense_variant","Missense","NM_012231.4","NM_012231.4:c.5118A>G","NP_036363.2:p.Pro1706=","NM_001135610.1,NM_012231.4","7,9","86.931,99.2243","PRDM2,PRDM2","NM_001135610.1,NM_012231.4","mRNA,mRNA","mRNA,mRNA","+,+","NP_001129082.1,NP_036363.2","NP_001129082.1,NP_036363.2","7799,7799","9347,9347","601196,601196","CCDS44061.1,CCDS150.1","03120,03120","PR domain zinc finger protein 2 isoform d,PR domain zinc finger protein 2 isoform a",",","True","A/G","rs1046331","RS orientation is reversed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Has synonymous A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","86","SNV","0.1787,0.8213","True","A/G","rs1046331","EX_TARGET",18792,"4113","0.821286",5008,695,1709,"595","0.857349",694,71,262,"1232","0.931921",1322,80,576,"711","0.726994",978,203,254,"862","0.856859",1006,126,368,"713","0.707341",1008,215,249,"False"]
["1:14149844","T/A",null,"PASS","0.5","43,43",86,99,"0/1","PRDM2","3_prime_UTR_variant","Other","NM_012231.4","NM_012231.4:c.*214T>A",null,"NM_001135610.1,NM_012231.4","8,10",",","PRDM2,PRDM2","NM_001135610.1,NM_012231.4","mRNA,mRNA","mRNA,mRNA","+,+","NP_001129082.1,NP_036363.2","NP_001129082.1,NP_036363.2","7799,7799","9347,9347","601196,601196","CCDS44061.1,CCDS150.1","03120,03120","PR domain zinc finger protein 2 isoform d,PR domain zinc finger protein 2 isoform a",",","True","T/A","rs1046333","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1","86","SNV",{"$nulls":36},"False"]
["1:14150032","C/T",null,"PASS","0.597701","35,52",87,99,"0/1","PRDM2","3_prime_UTR_variant","Other","NM_012231.4","NM_012231.4:c.*402C>T",null,"NM_001135610.1,NM_012231.4","8,10",",","PRDM2,PRDM2","NM_001135610.1,NM_012231.4","mRNA,mRNA","mRNA,mRNA","+,+","NP_001129082.1,NP_036363.2","NP_001129082.1,NP_036363.2","7799,7799","9347,9347","601196,601196","CCDS44061.1,CCDS150.1","03120,03120","PR domain zinc finger protein 2 isoform d,PR domain zinc finger protein 2 isoform a",",","True","C/T","rs2697967","RS orientation is reversed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","100","SNV","0.3407,0.6593","True","C/T","rs2697967",null,19182,"3302","0.659345",5008,1086,1108,"520","0.74928",694,112,204,"960","0.726172",1322,258,351,"501","0.51227",978,269,116,"740","0.735586",1006,204,268,"581","0.576389",1008,243,169,"False"]
["1:14150116","C/T",null,"PASS","0.586207","24,34",58,99,"0/1","PRDM2","3_prime_UTR_variant","Other","NM_012231.4","NM_012231.4:c.*486C>T",null,"NM_001135610.1,NM_012231.4","8,10",",","PRDM2,PRDM2","NM_001135610.1,NM_012231.4","mRNA,mRNA","mRNA,mRNA","+,+","NP_001129082.1,NP_036363.2","NP_001129082.1,NP_036363.2","7799,7799","9347,9347","601196,601196","CCDS44061.1,CCDS150.1","03120,03120","PR domain zinc finger protein 2 isoform d,PR domain zinc finger protein 2 isoform a",",","True","C/T","rs2697966","RS orientation is reversed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","100","SNV","0.2853,0.7147","True","C/T","rs2697966",null,18359,"3579","0.714657",5008,1019,1280,"536","0.772334",694,108,214,"963","0.728442",1322,257,353,"659","0.673824",978,245,207,"794","0.789264",1006,172,311,"627","0.622024",1008,237,195,"False"]
["1:14150505","T/C",null,"PASS","0.52381","20,22",42,99,"0/1","PRDM2","3_prime_UTR_variant","Other","NM_012231.4","NM_012231.4:c.*875T>C",null,"NM_001135610.1,NM_012231.4","8,10",",","PRDM2,PRDM2","NM_001135610.1,NM_012231.4","mRNA,mRNA","mRNA,mRNA","+,+","NP_001129082.1,NP_036363.2","NP_001129082.1,NP_036363.2","7799,7799","9347,9347","601196,601196","CCDS44061.1,CCDS150.1","03120,03120","PR domain zinc finger protein 2 isoform d,PR domain zinc finger protein 2 isoform a",",","True","T/C","rs2697965","RS orientation is reversed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","100","SNV","0.2843,0.7157","True","T/C","rs2697965",null,20484,"3584","0.715655",5008,1018,1283,"538","0.775216",694,110,214,"965","0.729955",1322,255,355,"659","0.673824",978,245,207,"794","0.789264",1006,172,311,"628","0.623016",1008,236,196,"False"]
["1:14150709","C/T",null,"PASS","0.486957","59,56",115,99,"0/1","PRDM2","3_prime_UTR_variant","Other","NM_012231.4","NM_012231.4:c.*1079C>T",null,"NM_001135610.1,NM_012231.4","8,10",",","PRDM2,PRDM2","NM_001135610.1,NM_012231.4","mRNA,mRNA","mRNA,mRNA","+,+","NP_001129082.1,NP_036363.2","NP_001129082.1,NP_036363.2","7799,7799","9347,9347","601196,601196","CCDS44061.1,CCDS150.1","03120,03120","PR domain zinc finger protein 2 isoform d,PR domain zinc finger protein 2 isoform a",",","True","C/T","rs2697964","RS orientation is reversed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","100","SNV","0.1807,0.8193","True","C/T","rs2697964",null,17010,"4103","0.819289",5008,725,1689,"595","0.857349",694,73,261,"1137","0.860061",1322,149,494,"704","0.719836",978,216,244,"853","0.847913",1006,135,359,"814","0.80754",1008,152,331,"False"]
["1:14150714","G/A",null,"PASS","0.482143","58,54",112,99,"0/1","PRDM2","3_prime_UTR_variant","Other","NM_012231.4","NM_012231.4:c.*1084G>A",null,"NM_001135610.1,NM_012231.4","8,10",",","PRDM2,PRDM2","NM_001135610.1,NM_012231.4","mRNA,mRNA","mRNA,mRNA","+,+","NP_001129082.1,NP_036363.2","NP_001129082.1,NP_036363.2","7799,7799","9347,9347","601196,601196","CCDS44061.1,CCDS150.1","03120,03120","PR domain zinc finger protein 2 isoform d,PR domain zinc finger protein 2 isoform a",",","True","G/A/T","rs2744680","RS orientation is reversed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","100","SNV","0.1807,0.8193,","True","G/A","rs2744680",null,17288,"4103","0.819289",5008,725,1689,"595","0.857349",694,73,261,"1137","0.860061",1322,149,494,"704","0.719836",978,216,244,"853","0.847913",1006,135,359,"814","0.80754",1008,152,331,"False"]
["1:14150740","G/T",null,"PASS","0.504673","53,54",107,99,"0/1","PRDM2","3_prime_UTR_variant","Other","NM_012231.4","NM_012231.4:c.*1110G>T",null,"NM_001135610.1,NM_012231.4","8,10",",","PRDM2,PRDM2","NM_001135610.1,NM_012231.4","mRNA,mRNA","mRNA,mRNA","+,+","NP_001129082.1,NP_036363.2","NP_001129082.1,NP_036363.2","7799,7799","9347,9347","601196,601196","CCDS44061.1,CCDS150.1","03120,03120","PR domain zinc finger protein 2 isoform d,PR domain zinc finger protein 2 isoform a",",","True","G/T","rs2697963","RS orientation is reversed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","100","SNV","0.1809,0.8191","True","G/T","rs2697963",null,17604,"4102","0.819089",5008,726,1688,"594","0.855908",694,74,260,"1137","0.860061",1322,149,494,"704","0.719836",978,216,244,"853","0.847913",1006,135,359,"814","0.80754",1008,152,331,"False"]
["1:14150992","T/C",null,"PASS","0.533333","7,8",15,99,"0/1","PRDM2","3_prime_UTR_variant","Other","NM_012231.4","NM_012231.4:c.*1362T>C",null,"NM_001135610.1,NM_012231.4","8,10",",","PRDM2,PRDM2","NM_001135610.1,NM_012231.4","mRNA,mRNA","mRNA,mRNA","+,+","NP_001129082.1,NP_036363.2","NP_001129082.1,NP_036363.2","7799,7799","9347,9347","601196,601196","CCDS44061.1,CCDS150.1","03120,03120","PR domain zinc finger protein 2 isoform d,PR domain zinc finger protein 2 isoform a",",","True","T/C","rs2697962","RS orientation is reversed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","100","SNV","0.1821,0.8179","True","T/C","rs2697962",null,18043,"4096","0.817891",5008,730,1683,"594","0.855908",694,74,260,"1132","0.856278",1322,152,490,"704","0.719836",978,216,244,"852","0.846918",1006,136,358,"814","0.80754",1008,152,331,"False"]
["1:15495110","A/G",null,"PASS","0.432203","67,51",118,99,"0/1","C1orf195,TMEM51","missense_variant","Missense","NM_001278501.1,NM_018022.2","NM_001278501.1:c.262T>C,NM_018022.2:c.-194+14660A>G","NP_001265430.1:p.Tyr88His,","NM_001136216.1,NM_001136217.1,NM_001319665.1,NM_018022.2,NM_001136218.1,NM_001278502.1,NM_001278501.1","1,1,1,1,1,2,3",",,,,,,68.5039","TMEM51,TMEM51,TMEM51,TMEM51,TMEM51,C1orf195,C1orf195","NM_001136216.1,NM_001136217.1,NM_001319665.1,NM_018022.2,NM_001136218.1,NM_001278502.1,NM_001278501.1","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","+,+,+,+,+,-,-","NP_001129688.1,NP_001129689.1,NP_001306594.1,NP_060492.1,NP_001129690.1,NP_001265431.1,NP_001265430.1","NP_001129688.1,NP_001129689.1,NP_001306594.1,NP_060492.1,NP_001129690.1,NP_001265431.1,NP_001265430.1","55092,55092,55092,55092,55092,727684,727684","25488,25488,25488,25488,25488,32332,32332",",,,,,,","CCDS154.1,CCDS154.1,CCDS81266.1,CCDS154.1,CCDS154.1,,","07651,07651,07651,07651,07651,,","transmembrane protein 51 isoform 1,transmembrane protein 51 isoform 1,transmembrane protein 51 isoform 2,transmembrane protein 51 isoform 1,transmembrane protein 51 isoform 1,putative uncharacterized protein C1orf195 isoform 2,putative uncharacterized protein C1orf195 isoform 1",",,,,,,","True","A/G","rs78615461","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),1000 Genome phase 1,1000 Genome phase 3","131","SNV","0.7147,0.2853","True","A/G","rs78615461",null,19754,"1429","0.285343",5008,999,215,"178","0.256484",694,142,18,"479","0.36233",1322,309,85,"245","0.250511",978,169,38,"179","0.177932",1006,153,13,"348","0.345238",1008,226,61,"False"]
["1:15541407","C/T",null,"PASS","0.642857","5,9",14,99,"0/1","TMEM51","5_prime_UTR_variant","Other","NM_018022.2","NM_018022.2:c.-177C>T",null,"NM_001136216.1,NM_001136217.1,NM_001319665.1,NM_018022.2,NM_001136218.1","3,2,3,2,3",",,,,","TMEM51,TMEM51,TMEM51,TMEM51,TMEM51","NM_001136216.1,NM_001136217.1,NM_001319665.1,NM_018022.2,NM_001136218.1","mRNA,mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA,mRNA","+,+,+,+,+","NP_001129688.1,NP_001129689.1,NP_001306594.1,NP_060492.1,NP_001129690.1","NP_001129688.1,NP_001129689.1,NP_001306594.1,NP_060492.1,NP_001129690.1","55092,55092,55092,55092,55092","25488,25488,25488,25488,25488",",,,,","CCDS154.1,CCDS154.1,CCDS81266.1,CCDS154.1,CCDS154.1","07651,07651,07651,07651,07651","transmembrane protein 51 isoform 1,transmembrane protein 51 isoform 1,transmembrane protein 51 isoform 2,transmembrane protein 51 isoform 1,transmembrane protein 51 isoform 1",",,,,","True","C/T","rs3753316","RS orientation is reversed,Has SubmitterLinkOut,In 5' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","107","SNV","0.5877,0.4123","True","C/T","rs3753316",null,18734,"2065","0.41234",5008,1163,451,"352","0.507205",694,158,97,"460","0.347958",1322,306,77,"354","0.361963",978,212,71,"351","0.348907",1006,235,58,"548","0.543651",1008,252,148,"False"]
["1:15616139","G/A",null,"PASS","0.548673","51,62",113,99,"0/1","FHAD1","missense_variant","Missense","NM_052929.1","NM_052929.1:c.545G>A","NP_443161.1:p.Arg182His","NM_052929.1","4","12.8332","FHAD1","NM_052929.1","mRNA","mRNA","+","NP_443161.1","NP_443161.1","114827","29408",{"$nulls":3},"forkhead-associated domain-containing protein 1",null,"True","G/A","rs486557","RS orientation is reversed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","83","SNV","0.7919,0.2081","True","G/A","rs486557",null,16676,"1042","0.208067",5008,774,134,"145","0.208934",694,107,19,"274","0.207262",1322,222,26,"253","0.258691",978,187,33,"328","0.326044",1006,216,56,"42","0.0416667",1008,42,0,"False"]
["1:15724033","A/G",null,"PASS","0.509804","25,26",51,99,"0/1","FHAD1","3_prime_UTR_variant","Other","NM_052929.1","NM_052929.1:c.*124A>G",null,"NM_052929.1","31",null,"FHAD1","NM_052929.1","mRNA","mRNA","+","NP_443161.1","NP_443161.1","114827","29408",{"$nulls":3},"forkhead-associated domain-containing protein 1",null,"True","A/G","rs2253372","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","100","SNV","0.255,0.745","True","A/G","rs2253372",null,18864,"3731","0.745008",5008,873,1429,"403","0.580692",694,179,112,"1198","0.906203",1322,114,542,"678","0.693252",978,202,238,"740","0.735586",1006,176,282,"712","0.706349",1008,202,255,"False"]
["1:15755248","C/T",null,"PASS","0.465753","39,34",73,99,"0/1","EFHD2","3_prime_UTR_variant","Other","NM_024329.5","NM_024329.5:c.*28C>T",null,"NM_024329.5","4",null,"EFHD2","NM_024329.5","mRNA","mRNA","+","NP_077305.2","NP_077305.2","79180","28670","616450","CCDS155.1","13266","EF-hand domain-containing protein D2",null,"True","C/T","rs3765372","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","107","SNV","0.8299,0.1701","True","C/T","rs3765372","EX_TARGET",13122,"852","0.170128",5008,630,111,"116","0.167147",694,94,11,"56","0.0423601",1322,50,3,"281","0.287321",978,189,46,"151","0.150099",1006,129,11,"248","0.246032",1008,168,40,"False"]
["1:16060678","T/C",null,"PASS","0.166667","15,3",18,40,"0/1","PLEKHM2","3_prime_UTR_variant","Other","NM_015164.2","NM_015164.2:c.*249T>C",null,"NM_015164.2","20",null,"PLEKHM2","NM_015164.2","mRNA","mRNA","+","NP_055979.2","NP_055979.2","23207","29131","609613","CCDS44063.1",null,"pleckstrin homology domain-containing family M member 2",null,"True","T/C","rs7553242","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","116","SNV","0.7989,0.2011","True","T/C","rs7553242",null,17303,"1007","0.201078",5008,753,127,"153","0.220461",694,111,21,"430","0.325265",1322,286,72,"165","0.168712",978,145,10,"214","0.212724",1006,168,23,"45","0.0446429",1008,43,1,"True","esv3585317,.;esv3585319","Gain,Gain","<CN2>,<CN2>","DUP_delly,DUP_gs","IMPRECISE,EX_TARGET,EX_TARGET","15596,13543","11,11","0.00219649,0.00219649","5008,5008","11,11","0,0","0,0","0,0","694,694","0,0","0,0","0,0","0,0","1322,1322","0,0","0,0","11,11","0.0112474,0.0112474","978,978","11,11","0,0","0,0","0,0","1006,1006","0,0","0,0","0,0","0,0","1008,1008","0,0","0,0"]
["1:16061035","G/C",null,"PASS","0.666667","1,2",3,33,"0/1","PLEKHM2","3_prime_UTR_variant","Other","NM_015164.2","NM_015164.2:c.*606G>C",null,"NM_015164.2","20",null,"PLEKHM2","NM_015164.2","mRNA","mRNA","+","NP_055979.2","NP_055979.2","23207","29131","609613","CCDS44063.1",null,"pleckstrin homology domain-containing family M member 2",null,"True","G/C","rs7748","RS orientation is reversed,Has SubmitterLinkOut,In 3' UTR,In 5' gene region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","52","SNV","0.6885,0.3115","True","G/C","rs7748",null,15870,"1560","0.311502",5008,766,397,"184","0.26513",694,124,30,"927","0.70121",1322,265,331,"163","0.166667",978,143,10,"213","0.21173",1006,167,23,"73","0.0724206",1008,67,3,"True","esv3585317,.;esv3585319","Gain,Gain","<CN2>,<CN2>","DUP_delly,DUP_gs","IMPRECISE,EX_TARGET,EX_TARGET","15596,13543","11,11","0.00219649,0.00219649","5008,5008","11,11","0,0","0,0","0,0","694,694","0,0","0,0","0,0","0,0","1322,1322","0,0","0,0","11,11","0.0112474,0.0112474","978,978","11,11","0,0","0,0","0,0","1006,1006","0,0","0,0","0,0","0,0","1008,1008","0,0","0,0"]
["1:16069525","C/T",null,"PASS","0.573913","49,66",115,99,"0/1","TMEM82","missense_variant","Missense","NM_001013641.2","NM_001013641.2:c.172C>T","NP_001013663.1:p.Arg58Trp","NM_001013641.2","3","16.5698","TMEM82","NM_001013641.2","mRNA","mRNA","+","NP_001013663.1","NP_001013663.1","388595","32350",null,"CCDS30608.1","18383","transmembrane protein 82",null,"True","C/T","rs41268336","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,Marker on high density genotype kit (50K+),1000 Genome phase 1,1000 Genome phase 3","127","SNV","0.9938,0.00619","True","C/T","rs41268336","EX_TARGET",13926,"31","0.0061901",5008,31,0,"2","0.00288184",694,2,0,"2","0.00151286",1322,2,0,"8","0.00817996",978,8,0,"10","0.00994036",1006,10,0,"9","0.00892857",1008,9,0,"True","esv3585317,.;esv3585319","Gain,Gain","<CN2>,<CN2>","DUP_delly,DUP_gs","IMPRECISE,EX_TARGET,EX_TARGET","15596,13543","11,11","0.00219649,0.00219649","5008,5008","11,11","0,0","0,0","0,0","694,694","0,0","0,0","0,0","0,0","1322,1322","0,0","0,0","11,11","0.0112474,0.0112474","978,978","11,11","0,0","0,0","0,0","1006,1006","0,0","0,0","0,0","0,0","1008,1008","0,0","0,0"]
["1:16070871","C/T",null,"PASS","0.44898","27,22",49,99,"0/1","TMEM82","missense_variant","Missense","NM_001013641.2","NM_001013641.2:c.553C>T","NP_001013663.1:p.Arg185Cys","NM_001013641.2","4","53.4884","TMEM82","NM_001013641.2","mRNA","mRNA","+","NP_001013663.1","NP_001013663.1","388595","32350",null,"CCDS30608.1","18383","transmembrane protein 82",null,"True","C/T","rs7511651","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","116","SNV","0.8944,0.1056","True","C/T","rs7511651","EX_TARGET",16957,"529","0.105631",5008,409,60,"62","0.0893372",694,52,5,"329","0.248865",1322,239,45,"26","0.0265849",978,22,2,"102","0.101392",1006,86,8,"10","0.00992064",1008,10,0,"True","esv3585317,.;esv3585319","Gain,Gain","<CN2>,<CN2>","DUP_delly,DUP_gs","IMPRECISE,EX_TARGET,EX_TARGET","15596,13543","11,11","0.00219649,0.00219649","5008,5008","11,11","0,0","0,0","0,0","694,694","0,0","0,0","0,0","0,0","1322,1322","0,0","0,0","11,11","0.0112474,0.0112474","978,978","11,11","0,0","0,0","0,0","1006,1006","0,0","0,0","0,0","0,0","1008,1008","0,0","0,0"]
["1:16133838","A/T",null,"PASS","0.478261","48,44",92,99,"0/1","UQCRHL","3_prime_UTR_variant","Other","NM_001089591.1","NM_001089591.1:c.*31T>A",null,"NM_001089591.1","1",null,"UQCRHL","NM_001089591.1","mRNA","mRNA","-","NP_001083060.1","NP_001083060.1","440567","51714",null,"CCDS76112.1",null,"cytochrome b-c1 complex subunit 6-like, mitochondrial",null,"True","A/T","rs66673012","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","130","SNV","0.8538,0.1462","True","A/T","rs66673012",null,18688,"732","0.146166",5008,524,104,"67","0.0965418",694,63,2,"481","0.363843",1322,289,96,"74","0.0756646",978,70,2,"100","0.0994036",1006,92,4,"10","0.00992064",1008,10,0,"False"]
["1:16133987","T/C",null,"PASS","0.540323","57,67",124,99,"0/1","UQCRHL","missense_variant","Missense","NM_001089591.1","NM_001089591.1:c.158A>G","NP_001083060.1:p.Tyr53Cys","NM_001089591.1","1","56.8841","UQCRHL","NM_001089591.1","mRNA","mRNA","-","NP_001083060.1","NP_001083060.1","440567","51714",null,"CCDS76112.1",null,"cytochrome b-c1 complex subunit 6-like, mitochondrial",null,"True","T/C","rs7417535","Has 3D structure,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","116","SNV","0.8536,0.1464","True","T/C","rs7417535",null,16739,"733","0.146366",5008,523,105,"67","0.0965418",694,63,2,"482","0.364599",1322,288,97,"74","0.0756646",978,70,2,"100","0.0994036",1006,92,4,"10","0.00992064",1008,10,0,"False"]
["1:16134072","C/T",null,"PASS","0.548673","51,62",113,99,"0/1","UQCRHL","missense_variant","Missense","NM_001089591.1","NM_001089591.1:c.73G>A","NP_001083060.1:p.Glu25Lys","NM_001089591.1","1","26.087","UQCRHL","NM_001089591.1","mRNA","mRNA","-","NP_001083060.1","NP_001083060.1","440567","51714",null,"CCDS76112.1",null,"cytochrome b-c1 complex subunit 6-like, mitochondrial",null,"True","C/T","rs61744357","Has 3D structure,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","129","SNV","0.8538,0.1462","True","C/T","rs61744357",null,17878,"732","0.146166",5008,524,104,"67","0.0965418",694,63,2,"481","0.363843",1322,289,96,"74","0.0756646",978,70,2,"100","0.0994036",1006,92,4,"10","0.00992064",1008,10,0,"False"]
["1:16256007","T/C",null,"PASS","0.54023","40,47",87,99,"0/1","SPEN","missense_variant","Missense","NM_015001.2","NM_015001.2:c.3272T>C","NP_055816.2:p.Leu1091Pro","NM_015001.2","11","29.7499","SPEN","NM_015001.2","mRNA","mRNA","+","NP_055816.2","NP_055816.2","23013","17575","613484","CCDS164.1","10230","msx2-interacting protein",null,"True","T/C","rs848209","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","86","SNV","0.351,0.649","True","T/C","rs848209","EX_TARGET",18084,"3250","0.648962",5008,894,1178,"494","0.711816",694,154,170,"1290","0.975794",1322,30,630,"581","0.59407",978,243,169,"561","0.557654",1006,251,155,"324","0.321429",1008,216,54,"False"]
["1:16259813","A/G",null,"PASS","0.509434","26,27",53,99,"0/1","SPEN","missense_variant","Missense","NM_015001.2","NM_015001.2:c.7078A>G","NP_055816.2:p.Asn2360Asp","NM_015001.2","11","64.3656","SPEN","NM_015001.2","mRNA","mRNA","+","NP_055816.2","NP_055816.2","23013","17575","613484","CCDS164.1","10230","msx2-interacting protein",null,"True","A/G/T","rs848210","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","86","SNV","0.351,0.649,","True","A/G","rs848210","EX_TARGET",17756,"3250","0.648962",5008,894,1178,"494","0.711816",694,154,170,"1290","0.975794",1322,30,630,"581","0.59407",978,243,169,"561","0.557654",1006,251,155,"324","0.321429",1008,216,54,"False"]
["1:16262465","A/C",null,"FS60,SOR3","0.1","18,2",20,24,"0/1","SPEN","missense_variant","Missense","NM_015001.2","NM_015001.2:c.9730A>C","NP_055816.2:p.Thr3244Pro","NM_015001.2","11","88.4857","SPEN","NM_015001.2","mRNA","mRNA","+","NP_055816.2","NP_055816.2","23013","17575","613484","CCDS164.1","10230","msx2-interacting protein",null,"True","A/C/G","rs776474446","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated","144","SNV",{"$nulls":36},"False",{"$nulls":36},"A/C","403485","Benign","Benign","Benign (1)","(1 Stars) Criteria Provided, Single Submitter","rs776474446","SPEN","23013","NC_000001.10:g.16262465A>C","NC_000001.11:g.15935970A>C","NM_015001.2:c.9730A>C","NP_055816.2:p.Thr3244Pro","RCV000454962","not specified","Benign","(1 Stars) Criteria Provided, Single Submitter","2016-03-29"]
["1:16262471","A/C",null,"FS60,SOR3","0.0769231","24,2",26,9,"0/1","SPEN","missense_variant","Missense","NM_015001.2","NM_015001.2:c.9736A>C","NP_055816.2:p.Thr3246Pro","NM_015001.2","11","88.5402","SPEN","NM_015001.2","mRNA","mRNA","+","NP_055816.2","NP_055816.2","23013","17575","613484","CCDS164.1","10230","msx2-interacting protein",null,"True","A/C/G","rs769360962","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated","144","SNV",{"$nulls":36},"False",{"$nulls":36},"A/C","403486","Benign","Benign","Benign (1)","(1 Stars) Criteria Provided, Single Submitter","rs769360962","SPEN","23013","NC_000001.10:g.16262471A>C","NC_000001.11:g.15935976A>C","NM_015001.2:c.9736A>C","NP_055816.2:p.Thr3246Pro","RCV000455639","not specified","Benign","(1 Stars) Criteria Provided, Single Submitter","2016-03-29"]
["1:16341650","C/T",null,"PASS","0.5","4,4",8,99,"0/1","HSPB7","3_prime_UTR_variant","Other","NM_014424.4","NM_014424.4:c.*425G>A",null,"NM_014424.4","3",null,"HSPB7","NM_014424.4","mRNA","mRNA","-","NP_055239.1","NP_055239.1","27129","5249","610692","CCDS30611.1","13684","heat shock protein beta-7",null,"True","C/T","rs77577644","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,1000 Genome phase 1,1000 Genome phase 3","132","SNV","0.9772,0.02276","True","C/T","rs77577644",null,18393,"114","0.0227636",5008,106,4,"32","0.0461095",694,32,0,"3","0.00226929",1322,3,0,"8","0.00817996",978,8,0,"71","0.0705765",1006,63,4,"0","0",1008,0,0,"False"]
["1:16344625","C/G",null,"PASS","0.470588","45,40",85,99,"0/1","HSPB7","5_prime_UTR_variant","Other","NM_014424.4","NM_014424.4:c.-167G>C",null,"NM_014424.4","1",null,"HSPB7","NM_014424.4","mRNA","mRNA","-","NP_055239.1","NP_055239.1","27129","5249","610692","CCDS30611.1","13684","heat shock protein beta-7",null,"True","C/G","rs945417","Variant is Precious,Links exist to PubMed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,In 5' UTR,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","86","SNV","0.3518,0.6482","True","C/G","rs945417",null,15911,"3246","0.648163",5008,1070,1088,"313","0.451009",694,163,75,"979","0.740545",1322,261,359,"614","0.627812",978,224,195,"572","0.568588",1006,250,161,"768","0.761905",1008,172,298,"False"]
["1:16344664","G/A",null,"PASS","0.465753","39,34",73,99,"0/1","HSPB7","5_prime_UTR_variant","Other","NM_014424.4","NM_014424.4:c.-206C>T",null,"NM_014424.4","1",null,"HSPB7","NM_014424.4","mRNA","mRNA","-","NP_055239.1","NP_055239.1","27129","5249","610692","CCDS30611.1","13684","heat shock protein beta-7",null,"True","G/A","rs872222","RS orientation is reversed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,In 5' UTR,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","86","SNV","0.5639,0.4361","True","G/A","rs872222",null,15251,"2184","0.436102",5008,1160,512,"214","0.308357",694,152,31,"463","0.350227",1322,301,81,"407","0.416155",978,247,80,"421","0.418489",1006,249,86,"679","0.673611",1008,211,234,"False"]
["1:16344858","C/T",null,"PASS","0.75","3,9",12,52,"0/1","HSPB7","5_prime_UTR_variant","Other","NM_014424.4","NM_014424.4:c.-400G>A",null,"NM_014424.4","1",null,"HSPB7","NM_014424.4","mRNA","mRNA","-","NP_055239.1","NP_055239.1","27129","5249","610692","CCDS30611.1","13684","heat shock protein beta-7",null,"True","C/T","rs945419","Has SubmitterLinkOut,In 5' UTR,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","86","SNV","0.3614,0.6386","True","C/T","rs945419",null,19819,"3198","0.638578",5008,1086,1056,"309","0.445245",694,161,74,"934","0.706505",1322,280,327,"615","0.628834",978,223,196,"572","0.568588",1006,250,161,"768","0.761905",1008,172,298,"False"]
["1:16345208","G/A",null,"PASS","0.5","2,2",4,53,"0/1","HSPB7","5_prime_UTR_variant","Other","NM_014424.4","NM_014424.4:c.-750C>T",null,"NM_014424.4","1",null,"HSPB7","NM_014424.4","mRNA","mRNA","-","NP_055239.1","NP_055239.1","27129","5249","610692","CCDS30611.1","13684","heat shock protein beta-7",null,"True","G/A","rs945420","Has SubmitterLinkOut,In 5' UTR,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","86","SNV","0.3514,0.6486","True","G/A","rs945420",null,18862,"3248","0.648562",5008,1068,1090,"313","0.451009",694,163,75,"980","0.741301",1322,260,360,"615","0.628834",978,223,196,"572","0.568588",1006,250,161,"768","0.761905",1008,172,298,"False"]
["1:16351275","A/G",null,"PASS","0.45","55,45",100,99,"0/1","CLCNKA","missense_variant","Missense","NM_004070.3","NM_004070.3:c.247A>G","NP_004061.3:p.Arg83Gly","NM_001042704.1,NM_001257139.1,NM_004070.3","4,3,4","11.936,,11.9186","CLCNKA,CLCNKA,CLCNKA","NM_001042704.1,NM_001257139.1,NM_004070.3","mRNA,mRNA,mRNA","mRNA,mRNA,mRNA","+,+,+","NP_001036169.1,NP_001244068.1,NP_004061.3","NP_001036169.1,NP_001244068.1,NP_004061.3","1187,1187,1187","2026,2026,2026","602024,602024,602024","CCDS41269.1,CCDS57973.1,CCDS167.1",",,","chloride channel protein ClC-Ka isoform 2,chloride channel protein ClC-Ka isoform 3,chloride channel protein ClC-Ka isoform 1",",,","True","A/G","rs10927887","Variant is Precious,Links exist to PubMed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","120","SNV","0.357,0.643","True","A/G","rs10927887","EX_TARGET",9165,"3220","0.642971",5008,1076,1072,"310","0.446686",694,160,75,"952","0.720121",1322,264,344,"616","0.629857",978,226,195,"567","0.563618",1006,255,156,"775","0.768849",1008,171,302,"True","esv3585326;esv3585327,esv3585326;esv3585327","Gain,Gain","<CN2>,<CN3>","DUP_gs,DUP_gs","EX_TARGET,EX_TARGET","20274,20274","117,1","0.0233626,0.000199681","5008,5008","99,1","9,0","4,0","0.00576369,0","694,694","4,0","0,0","113,1","0.0854765,0.00075643","1322,1322","95,1","9,0","0,0","0,0","978,978","0,0","0,0","0,0","0,0","1006,1006","0,0","0,0","0,0","0,0","1008,1008","0,0","0,0","A/G","585697","Benign","Benign","Benign (1)","(1 Stars) Criteria Provided, Single Submitter",null,"CLCNKA,LOC106501712","1187,106501712","NC_000001.10:g.16351275A>G","NC_000001.11:g.16024780A>G","NM_004070.3:c.247A>G","NP_004061.3:p.Arg83Gly","RCV000711245","not provided","Benign","(1 Stars) Criteria Provided, Single Submitter","2018-05-07"]
["1:16354590","A/T",null,"PASS","0.367816","55,32",87,99,"0/1","CLCNKA","missense_variant","Missense","NM_004070.3","NM_004070.3:c.944A>T","NP_004061.3:p.Tyr315Phe","NM_001042704.1,NM_001257139.1,NM_004070.3","10,9,10","45.7545,42.0672,45.688","CLCNKA,CLCNKA,CLCNKA","NM_001042704.1,NM_001257139.1,NM_004070.3","mRNA,mRNA,mRNA","mRNA,mRNA,mRNA","+,+,+","NP_001036169.1,NP_001244068.1,NP_004061.3","NP_001036169.1,NP_001244068.1,NP_004061.3","1187,1187,1187","2026,2026,2026","602024,602024,602024","CCDS41269.1,CCDS57973.1,CCDS167.1",",,","chloride channel protein ClC-Ka isoform 2,chloride channel protein ClC-Ka isoform 3,chloride channel protein ClC-Ka isoform 1",",,","True","A/G/T","rs12126269","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","120","SNV","0.8454,,0.1546","True","A/T","rs12126269","EX_TARGET",16650,"774","0.154553",5008,634,70,"136","0.195965",694,102,17,"134","0.101362",1322,114,10,"101","0.103272",978,81,10,"189","0.187873",1006,167,11,"214","0.212302",1008,170,22,"True","esv3585326;esv3585327,esv3585326;esv3585327","Gain,Gain","<CN2>,<CN3>","DUP_gs,DUP_gs","EX_TARGET,EX_TARGET","20274,20274","117,1","0.0233626,0.000199681","5008,5008","99,1","9,0","4,0","0.00576369,0","694,694","4,0","0,0","113,1","0.0854765,0.00075643","1322,1322","95,1","9,0","0,0","0,0","978,978","0,0","0,0","0,0","0,0","1006,1006","0,0","0,0","0,0","0,0","1008,1008","0,0","0,0"]
["1:16355287","C/G",null,"PASS","0.702703","22,52",74,99,"0/1","CLCNKA","missense_variant","Missense","NM_004070.3","NM_004070.3:c.1000C>G","NP_004061.3:p.Leu334Val","NM_001042704.1,NM_001257139.1,NM_004070.3","11,10,11","48.4716,44.9612,48.4012","CLCNKA,CLCNKA,CLCNKA","NM_001042704.1,NM_001257139.1,NM_004070.3","mRNA,mRNA,mRNA","mRNA,mRNA,mRNA","+,+,+","NP_001036169.1,NP_001244068.1,NP_004061.3","NP_001036169.1,NP_001244068.1,NP_004061.3","1187,1187,1187","2026,2026,2026","602024,602024,602024","CCDS41269.1,CCDS57973.1,CCDS167.1",",,","chloride channel protein ClC-Ka isoform 2,chloride channel protein ClC-Ka isoform 3,chloride channel protein ClC-Ka isoform 1",",,","True","C/G","rs45588635","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","127","SNV","0.9898,0.01018","True","C/G","rs45588635","EX_TARGET",15106,"51","0.0101837",5008,51,0,"7","0.0100865",694,7,0,"3","0.00226929",1322,3,0,"14","0.0143149",978,14,0,"25","0.0248509",1006,25,0,"2","0.00198413",1008,2,0,"True","esv3585326;esv3585327,esv3585326;esv3585327","Gain,Gain","<CN2>,<CN3>","DUP_gs,DUP_gs","EX_TARGET,EX_TARGET","20274,20274","117,1","0.0233626,0.000199681","5008,5008","99,1","9,0","4,0","0.00576369,0","694,694","4,0","0,0","113,1","0.0854765,0.00075643","1322,1322","95,1","9,0","0,0","0,0","978,978","0,0","0,0","0,0","0,0","1006,1006","0,0","0,0","0,0","0,0","1008,1008","0,0","0,0"]
["1:16356501","G/A",null,"PASS","0.518987","38,41",79,99,"0/1","CLCNKA","missense_variant","Missense","NM_004070.3","NM_004070.3:c.1339G>A","NP_004061.3:p.Ala447Thr","NM_001042704.1,NM_001257139.1,NM_004070.3","14,13,14","64.9199,62.4806,64.8256","CLCNKA,CLCNKA,CLCNKA","NM_001042704.1,NM_001257139.1,NM_004070.3","mRNA,mRNA,mRNA","mRNA,mRNA,mRNA","+,+,+","NP_001036169.1,NP_001244068.1,NP_004061.3","NP_001036169.1,NP_001244068.1,NP_004061.3","1187,1187,1187","2026,2026,2026","602024,602024,602024","CCDS41269.1,CCDS57973.1,CCDS167.1",",,","chloride channel protein ClC-Ka isoform 2,chloride channel protein ClC-Ka isoform 3,chloride channel protein ClC-Ka isoform 1",",,","True","G/A","rs1805152","Variant is Precious,Links exist to PubMed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3,Microattribution/third-party annotation(TPA:GWAS,PAGE)","89","SNV","0.3514,0.6486","True","G/A","rs1805152","EX_TARGET",17134,"3248","0.648562",5008,1050,1099,"310","0.446686",694,160,75,"991","0.749622",1322,237,377,"613","0.626789",978,225,194,"561","0.557654",1006,257,152,"773","0.766865",1008,171,301,"True","esv3585326;esv3585327,esv3585326;esv3585327","Gain,Gain","<CN2>,<CN3>","DUP_gs,DUP_gs","EX_TARGET,EX_TARGET","20274,20274","117,1","0.0233626,0.000199681","5008,5008","99,1","9,0","4,0","0.00576369,0","694,694","4,0","0,0","113,1","0.0854765,0.00075643","1322,1322","95,1","9,0","0,0","0,0","978,978","0,0","0,0","0,0","0,0","1006,1006","0,0","0,0","0,0","0,0","1008,1008","0,0","0,0"]
["1:16360316","A/T",null,"PASS","0.404255","56,38",94,99,"0/1","CLCNKA","3_prime_UTR_variant","Other","NM_004070.3","NM_004070.3:c.*163A>T",null,"NM_001042704.1,NM_001257139.1,NM_004070.3","20,19,20",",,","CLCNKA,CLCNKA,CLCNKA","NM_001042704.1,NM_001257139.1,NM_004070.3","mRNA,mRNA,mRNA","mRNA,mRNA,mRNA","+,+,+","NP_001036169.1,NP_001244068.1,NP_004061.3","NP_001036169.1,NP_001244068.1,NP_004061.3","1187,1187,1187","2026,2026,2026","602024,602024,602024","CCDS41269.1,CCDS57973.1,CCDS167.1",",,","chloride channel protein ClC-Ka isoform 2,chloride channel protein ClC-Ka isoform 3,chloride channel protein ClC-Ka isoform 1",",,","True","A/T","rs57537563","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,1000 Genome phase 3","129","SNV","0.4107,0.5893","True","A/T","rs57537563",null,15198,"2951","0.589257",5008,1119,916,"278","0.400576",694,164,57,"875","0.661876",1322,275,300,"559","0.571575",978,245,157,"481","0.478131",1006,255,113,"758","0.751984",1008,180,289,"True","esv3585326;esv3585327,esv3585326;esv3585327,esv3585328","Gain,Gain,Loss","<CN2>,<CN3>,<CN0>","DUP_gs,DUP_gs,DEL_union","EX_TARGET,EX_TARGET,EX_TARGET","20274,20274,12762","117,1,3","0.0233626,0.000199681,0.000599042","5008,5008,5008","99,1,3","9,0,0","4,0,0","0.00576369,0,0","694,694,694","4,0,0","0,0,0","113,1,1","0.0854765,0.00075643,0.00075643","1322,1322,1322","95,1,1","9,0,0","0,0,0","0,0,0","978,978,978","0,0,0","0,0,0","0,0,0","0,0,0","1006,1006,1006","0,0,0","0,0,0","0,0,2","0,0,0.00198413","1008,1008,1008","0,0,2","0,0,0"]
["1:16360424","G/C",null,"PASS","0.146667","64,11",75,99,"0/1","CLCNKA","3_prime_UTR_variant","Other","NM_004070.3","NM_004070.3:c.*271G>C",null,"NM_001042704.1,NM_001257139.1,NM_004070.3","20,19,20",",,","CLCNKA,CLCNKA,CLCNKA","NM_001042704.1,NM_001257139.1,NM_004070.3","mRNA,mRNA,mRNA","mRNA,mRNA,mRNA","+,+,+","NP_001036169.1,NP_001244068.1,NP_004061.3","NP_001036169.1,NP_001244068.1,NP_004061.3","1187,1187,1187","2026,2026,2026","602024,602024,602024","CCDS41269.1,CCDS57973.1,CCDS167.1",",,","chloride channel protein ClC-Ka isoform 2,chloride channel protein ClC-Ka isoform 3,chloride channel protein ClC-Ka isoform 1",",,","True","G/C","rs58783141","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific","129","SNV",{"$nulls":36},"True","esv3585326;esv3585327,esv3585326;esv3585327,esv3585328","Gain,Gain,Loss","<CN2>,<CN3>,<CN0>","DUP_gs,DUP_gs,DEL_union","EX_TARGET,EX_TARGET,EX_TARGET","20274,20274,12762","117,1,3","0.0233626,0.000199681,0.000599042","5008,5008,5008","99,1,3","9,0,0","4,0,0","0.00576369,0,0","694,694,694","4,0,0","0,0,0","113,1,1","0.0854765,0.00075643,0.00075643","1322,1322,1322","95,1,1","9,0,0","0,0,0","0,0,0","978,978,978","0,0,0","0,0,0","0,0,0","0,0,0","1006,1006,1006","0,0,0","0,0,0","0,0,2","0,0,0.00198413","1008,1008,1008","0,0,2","0,0,0"]
["1:16383547","T/C",null,"FS60,QD2,SOR3","0.115044","100,13",113,99,"0/1","CLCNKB","3_prime_UTR_variant","Other","NM_000085.4","NM_000085.4:c.*136T>C",null,"NM_000085.4,NM_001165945.2","20,13",",","CLCNKB,CLCNKB","NM_000085.4,NM_001165945.2","mRNA,mRNA","mRNA,mRNA","+,+","NP_000076.2,NP_001159417.2","NP_000076.2,NP_001159417.2","1188,1188","2027,2027","602023,602023","CCDS168.1,CCDS57974.1",",","chloride channel protein ClC-Kb isoform 1,chloride channel protein ClC-Kb isoform 2",",","True","T/C","rs1057839","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available","86","SNV",{"$nulls":36},"False"]
["1:16383574","A/T",null,"FS60,SOR3","0.142857","96,16",112,99,"0/1","CLCNKB","3_prime_UTR_variant","Other","NM_000085.4","NM_000085.4:c.*163A>T",null,"NM_000085.4,NM_001165945.2","20,13",",","CLCNKB,CLCNKB","NM_000085.4,NM_001165945.2","mRNA,mRNA","mRNA,mRNA","+,+","NP_000076.2,NP_001159417.2","NP_000076.2,NP_001159417.2","1188,1188","2027,2027","602023,602023","CCDS168.1,CCDS57974.1",",","chloride channel protein ClC-Kb isoform 1,chloride channel protein ClC-Kb isoform 2",",","True","A/T","rs1057841","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available","86","SNV",{"$nulls":36},"False"]
["1:16383581","G/T",null,"PASS","0.345133","74,39",113,99,"0/1","CLCNKB","3_prime_UTR_variant","Other","NM_000085.4","NM_000085.4:c.*170G>T",null,"NM_000085.4,NM_001165945.2","20,13",",","CLCNKB,CLCNKB","NM_000085.4,NM_001165945.2","mRNA,mRNA","mRNA,mRNA","+,+","NP_000076.2,NP_001159417.2","NP_000076.2,NP_001159417.2","1188,1188","2027,2027","602023,602023","CCDS168.1,CCDS57974.1",",","chloride channel protein ClC-Kb isoform 1,chloride channel protein ClC-Kb isoform 2",",","True","G/T","rs1057844","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available","86","SNV",{"$nulls":36},"False"]
["1:16383605","A/G",null,"PASS","0.342342","73,38",111,99,"0/1","CLCNKB","3_prime_UTR_variant","Other","NM_000085.4","NM_000085.4:c.*194A>G",null,"NM_000085.4,NM_001165945.2","20,13",",","CLCNKB,CLCNKB","NM_000085.4,NM_001165945.2","mRNA,mRNA","mRNA,mRNA","+,+","NP_000076.2,NP_001159417.2","NP_000076.2,NP_001159417.2","1188,1188","2027,2027","602023,602023","CCDS168.1,CCDS57974.1",",","chloride channel protein ClC-Kb isoform 1,chloride channel protein ClC-Kb isoform 2",",","True","A/G","rs1057845","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available","86","SNV",{"$nulls":36},"False"]
["1:16383682","G/C",null,"PASS","0.290323","110,45",155,99,"0/1","CLCNKB","3_prime_UTR_variant","Other","NM_000085.4","NM_000085.4:c.*271G>C",null,"NM_000085.4,NM_001165945.2","20,13",",","CLCNKB,CLCNKB","NM_000085.4,NM_001165945.2","mRNA,mRNA","mRNA,mRNA","+,+","NP_000076.2,NP_001159417.2","NP_000076.2,NP_001159417.2","1188,1188","2027,2027","602023,602023","CCDS168.1,CCDS57974.1",",","chloride channel protein ClC-Kb isoform 1,chloride channel protein ClC-Kb isoform 2",",","True","G/C","rs1057854","Provisional Third Party Annotation(TPA),Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available","86","SNV",{"$nulls":36},"False",{"$nulls":36},"G/C","402540","Benign","Benign","Benign (1)","(1 Stars) Criteria Provided, Single Submitter","rs1057854","CLCNKB,LOC106501713","1188,106501713","NC_000001.10:g.16383682G>C","NC_000001.11:g.16057187G>C","NM_000085.4:c.*271G>C",null,"RCV000455305","not specified","Benign","(1 Stars) Criteria Provided, Single Submitter","2016-03-28"]
["1:16383742","C/G",null,"PASS","0.666667","61,122",183,99,"0/1","CLCNKB","3_prime_UTR_variant","Other","NM_000085.4","NM_000085.4:c.*331C>G",null,"NM_000085.4,NM_001165945.2","20,13",",","CLCNKB,CLCNKB","NM_000085.4,NM_001165945.2","mRNA,mRNA","mRNA,mRNA","+,+","NP_000076.2,NP_001159417.2","NP_000076.2,NP_001159417.2","1188,1188","2027,2027","602023,602023","CCDS168.1,CCDS57974.1",",","chloride channel protein ClC-Kb isoform 1,chloride channel protein ClC-Kb isoform 2",",","True","C/G","rs1057857","Provisional Third Party Annotation(TPA),Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Genotypes available","86","SNV",{"$nulls":36},"False"]
["1:16384353","T/C",null,"PASS","0.5","2,2",4,38,"0/1","FAM131C","3_prime_UTR_variant","Other","NM_182623.2","NM_182623.2:c.*579A>G",null,"NM_182623.2","7",null,"FAM131C","NM_182623.2","mRNA","mRNA","-","NP_872429.2","NP_872429.2","348487","26717",null,"CCDS41270.1",null,"protein FAM131C",null,"True","T/C","rs2863442","Provisional Third Party Annotation(TPA),Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1","101","SNV",{"$nulls":36},"False"]
["1:16384499","C/A",null,"PASS","0.6","2,3",5,66,"0/1","FAM131C","3_prime_UTR_variant","Other","NM_182623.2","NM_182623.2:c.*433G>T",null,"NM_182623.2","7",null,"FAM131C","NM_182623.2","mRNA","mRNA","-","NP_872429.2","NP_872429.2","348487","26717",null,"CCDS41270.1",null,"protein FAM131C",null,"True","C/A","rs1055081","RS orientation is reversed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,Marker on high density genotype kit (50K+),Genotypes available","86","SNV",{"$nulls":36},"False"]
["1:16384784","A/G",null,"PASS","0.719512","23,59",82,99,"0/1","FAM131C","3_prime_UTR_variant","Other","NM_182623.2","NM_182623.2:c.*148T>C",null,"NM_182623.2","7",null,"FAM131C","NM_182623.2","mRNA","mRNA","-","NP_872429.2","NP_872429.2","348487","26717",null,"CCDS41270.1",null,"protein FAM131C",null,"True","A/G","rs2019490","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","92","SNV","0.2226,0.7774","True","A/G","rs2019490",null,22681,"3893","0.777356",5008,965,1464,"571","0.822767",694,117,227,"854","0.645991",1322,388,233,"817","0.835378",978,147,335,"787","0.782306",1006,179,304,"864","0.857143",1008,134,365,"False"]
["1:16384801","C/T",null,"PASS","0.706522","27,65",92,99,"0/1","FAM131C","3_prime_UTR_variant","Other","NM_182623.2","NM_182623.2:c.*131G>A",null,"NM_182623.2","7",null,"FAM131C","NM_182623.2","mRNA","mRNA","-","NP_872429.2","NP_872429.2","348487","26717",null,"CCDS41270.1",null,"protein FAM131C",null,"True","C/A/T","rs6656097","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Genotypes available,1000 Genome phase 1","116","SNV",{"$nulls":36},"False"]
["1:16384868","G/A",null,"PASS","0.319444","98,46",144,99,"0/1","FAM131C","3_prime_UTR_variant","Other","NM_182623.2","NM_182623.2:c.*64C>T",null,"NM_182623.2","7",null,"FAM131C","NM_182623.2","mRNA","mRNA","-","NP_872429.2","NP_872429.2","348487","26717",null,"CCDS41270.1",null,"protein FAM131C",null,"True","G/A","rs12756288","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Genotypes available,1000 Genome phase 1","121","SNV",{"$nulls":36},"False"]
["1:16384999","G/A",null,"PASS","0.257732","144,50",194,99,"0/1","FAM131C","missense_variant","Missense","NM_182623.2","NM_182623.2:c.776C>T","NP_872429.2:p.Pro259Leu","NM_182623.2","7","91.9336","FAM131C","NM_182623.2","mRNA","mRNA","-","NP_872429.2","NP_872429.2","348487","26717",null,"CCDS41270.1",null,"protein FAM131C",null,"True","G/A/C","rs1807284","RS orientation is reversed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","123","SNV","0.6232,0.3768,","True","G/A","rs1807284","EX_TARGET",19329,"1887","0.376797",5008,1815,36,"194","0.279539",694,184,5,"533","0.403177",1322,511,11,"387","0.395706",978,383,2,"338","0.335984",1006,332,3,"435","0.431548",1008,405,15,"False"]
["1:16385042","G/A",null,"PASS","0.225131","148,43",191,99,"0/1","FAM131C","missense_variant","Missense","NM_182623.2","NM_182623.2:c.733C>T","NP_872429.2:p.Arg245Trp","NM_182623.2","7","86.8327","FAM131C","NM_182623.2","mRNA","mRNA","-","NP_872429.2","NP_872429.2","348487","26717",null,"CCDS41270.1",null,"protein FAM131C",null,"True","G/A","rs77667563","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1","131","SNV",{"$nulls":36},"False"]
["1:16385131","C/A",null,"PASS","0.317568","101,47",148,99,"0/1","FAM131C","missense_variant","Missense","NM_182623.2","NM_182623.2:c.644G>T","NP_872429.2:p.Ser215Ile","NM_182623.2","7","76.2752","FAM131C","NM_182623.2","mRNA","mRNA","-","NP_872429.2","NP_872429.2","348487","26717",null,"CCDS41270.1",null,"protein FAM131C",null,"True","C/A","rs1832151","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1","92","SNV",{"$nulls":36},"False"]
["1:16386495","C/T",null,"PASS","0.448718","43,35",78,99,"0/1","FAM131C","missense_variant","Missense","NM_182623.2","NM_182623.2:c.320G>A","NP_872429.2:p.Arg107Gln","NM_182623.2","5","37.841","FAM131C","NM_182623.2","mRNA","mRNA","-","NP_872429.2","NP_872429.2","348487","26717",null,"CCDS41270.1",null,"protein FAM131C",null,"True","C/G/T","rs71510977","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 3","130","SNV","0.603,,0.397","True","C/T","rs71510977","EX_TARGET",9232,"1988","0.396965",5008,806,591,"240","0.345821",694,146,47,"74","0.0559758",1322,64,5,"431","0.440695",978,221,105,"440","0.437376",1006,230,105,"803","0.796627",1008,145,329,"False"]
["1:16532498","G/A",null,"PASS","0.488372","22,21",43,99,"0/1","ARHGEF19","missense_variant","Missense","NM_153213.4","NM_153213.4:c.1379C>T","NP_694945.2:p.Pro460Leu","NM_153213.4","8","57.2022","ARHGEF19","NM_153213.4","mRNA","mRNA","-","NP_694945.2","NP_694945.2","128272","26604","612496","CCDS170.1","10659","rho guanine nucleotide exchange factor 19",null,"True","G/A","rs41269185","Has 3D structure,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","127","SNV","0.9635,0.03654","True","G/A","rs41269185","EX_TARGET",16369,"183","0.0365415",5008,161,11,"43","0.0619597",694,39,2,"5","0.00378215",1322,5,0,"31","0.0316973",978,27,2,"104","0.10338",1006,90,7,"0","0",1008,0,0,"False"]
["1:16576836","A/G",null,"PASS","0.383333","37,23",60,99,"0/1","FBXO42","3_prime_UTR_variant","Other","NM_018994.2","NM_018994.2:c.*329T>C",null,"NM_018994.2","10",null,"FBXO42","NM_018994.2","mRNA","mRNA","-","NP_061867.1","NP_061867.1","54455","29249","609109","CCDS30613.1",null,"F-box only protein 42",null,"True","A/G","rs7536390","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","116","SNV","0.7294,0.2706","True","A/G","rs7536390",null,9711,"1355","0.270567",5008,869,243,"148","0.213256",694,106,21,"569","0.430408",1322,301,134,"126","0.128834",978,100,13,"336","0.333996",1006,224,56,"176","0.174603",1008,138,19,"True","esv3585334","Gain","<CN2>","DUP_gs","EX_TARGET","18451","1","0.000199681","5008","1","0","0","0","694","0","0","0","0","1322","0","0","0","0","978","0","0","1","0.000994036","1006","1","0","0","0","1008","0","0"]
["1:16577908","G/C",null,"PASS","0.472","66,59",125,99,"0/1","FBXO42","missense_variant","Missense","NM_018994.2","NM_018994.2:c.1411C>G","NP_061867.1:p.Pro471Ala","NM_018994.2","10","65.4596","FBXO42","NM_018994.2","mRNA","mRNA","-","NP_061867.1","NP_061867.1","54455","29249","609109","CCDS30613.1",null,"F-box only protein 42",null,"True","G/C","rs12069239","Variant is Precious,Links exist to PubMed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","120","SNV","0.7292,0.2708","True","G/C","rs12069239","EX_TARGET",18995,"1356","0.270767",5008,868,244,"148","0.213256",694,106,21,"570","0.431165",1322,300,135,"126","0.128834",978,100,13,"336","0.333996",1006,224,56,"176","0.174603",1008,138,19,"True","esv3585334","Gain","<CN2>","DUP_gs","EX_TARGET","18451","1","0.000199681","5008","1","0","0","0","694","0","0","0","0","1322","0","0","0","0","978","0","0","1","0.000994036","1006","1","0","0","0","1008","0","0"]
["1:16736327","G/A",null,"PASS","0.54955","50,61",111,99,"0/1","SPATA21","missense_variant","Missense","NM_198546.1","NM_198546.1:c.356C>T","NP_940948.1:p.Pro119Leu","NM_198546.1","6","25.1773","SPATA21","NM_198546.1","mRNA","mRNA","-","NP_940948.1","NP_940948.1","374955","28026",null,"CCDS172.1","14190","spermatogenesis-associated protein 21",null,"True","G/A","rs41269197","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),1000 Genome phase 1,1000 Genome phase 3","127","SNV","0.9768,0.02316","True","G/A","rs41269197","EX_TARGET",13933,"116","0.0231629",5008,98,9,"24","0.0345821",694,22,1,"2","0.00151286",1322,2,0,"20","0.0204499",978,14,3,"69","0.0685885",1006,59,5,"1","0.000992064",1008,1,0,"False"]
["1:16736546","C/T",null,"PASS","0.59322","24,35",59,99,"0/1","SPATA21","splice_region_variant","Other","NM_198546.1","NM_198546.1:c.145-8G>A",null,"NM_198546.1","6",null,"SPATA21","NM_198546.1","mRNA","mRNA","-","NP_940948.1","NP_940948.1","374955","28026",null,"CCDS172.1","14190","spermatogenesis-associated protein 21",null,"True","C/T","rs10907226","Has SubmitterLinkOut,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","120","SNV","0.3794,0.6206","True","C/T","rs10907226","EX_TARGET",15554,"3108","0.620607",5008,1014,1047,"371","0.534582",694,159,106,"787","0.59531",1322,311,238,"387","0.395706",978,219,84,"646","0.642147",1006,238,204,"917","0.909722",1008,87,415,"False"]
["1:16865268","A/G",null,"PASS","0.533333","7,8",15,99,"0/1","FAM231B","5_prime_UTR_variant","Other","NM_001310155.1","NM_001310155.1:c.-293A>G",null,"NM_001310155.1","1",null,"FAM231B","NM_001310155.1","mRNA","mRNA","+","NP_001297084.1","NP_001297084.1","100133301","49506",null,"CCDS81270.1",null,"protein FAM231B",null,"True","A/G","rs200174302","Has SubmitterLinkOut,In 5' UTR,In 5' gene region,Is Assembly specific","137","SNV",{"$nulls":36},"False"]
["1:16865423","G/T",null,"PASS","0.333333","52,26",78,99,"0/1","FAM231B","5_prime_UTR_variant","Other","NM_001310155.1","NM_001310155.1:c.-138G>T",null,"NM_001310155.1","1",null,"FAM231B","NM_001310155.1","mRNA","mRNA","+","NP_001297084.1","NP_001297084.1","100133301","49506",null,"CCDS81270.1",null,"protein FAM231B",null,"True","G/T","rs61769549","In 5' UTR,In 5' gene region,Is Assembly specific","129","SNV",{"$nulls":36},"False"]
["1:16865452","A/G",null,"PASS","0.233333","69,21",90,99,"0/1","FAM231B","5_prime_UTR_variant","Other","NM_001310155.1","NM_001310155.1:c.-109A>G",null,"NM_001310155.1","1",null,"FAM231B","NM_001310155.1","mRNA","mRNA","+","NP_001297084.1","NP_001297084.1","100133301","49506",null,"CCDS81270.1",null,"protein FAM231B",null,"True","A/C/G","rs4661369","Has SubmitterLinkOut,In 5' UTR,In 5' gene region,Is Assembly specific","111","SNV",{"$nulls":36},"False"]
["1:16865501","T/C",null,"FS60,QD2,SOR3","0.168317","84,17",101,99,"0/1","FAM231B","5_prime_UTR_variant","Other","NM_001310155.1","NM_001310155.1:c.-60T>C",null,"NM_001310155.1","1",null,"FAM231B","NM_001310155.1","mRNA","mRNA","+","NP_001297084.1","NP_001297084.1","100133301","49506",null,"CCDS81270.1",null,"protein FAM231B",null,"True","T/C","rs746802","In 5' UTR,In 5' gene region,Is Assembly specific","111","SNV",{"$nulls":36},"False"]
["1:16865533","C/G",null,"FS60,SOR3","0.159664","100,19",119,99,"0/1","FAM231B","5_prime_UTR_variant","Other","NM_001310155.1","NM_001310155.1:c.-28C>G",null,"NM_001310155.1","1",null,"FAM231B","NM_001310155.1","mRNA","mRNA","+","NP_001297084.1","NP_001297084.1","100133301","49506",null,"CCDS81270.1",null,"protein FAM231B",null,"True","C/G","rs371646160","In 5' UTR,In 5' gene region,Is Assembly specific,Is Validated","138","SNV",{"$nulls":36},"False"]
["1:16866033","C/T",null,"PASS","0.504065","61,62",123,99,"0/1","FAM231B","missense_variant","Missense","NM_001310155.1","NM_001310155.1:c.473C>T","NP_001297084.1:p.Pro158Leu","NM_001310155.1","1","92.549","FAM231B","NM_001310155.1","mRNA","mRNA","+","NP_001297084.1","NP_001297084.1","100133301","49506",null,"CCDS81270.1",null,"protein FAM231B",null,"True","C/T","rs156880","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 3","79","SNV","0.4147,0.5853","True","C/T","rs147443431",null,19756,"2931","0.585264",5008,1067,932,"310","0.446686",694,156,77,"596","0.450832",1322,332,132,"573","0.58589",978,245,164,"541","0.537773",1006,241,150,"911","0.90377",1008,93,409,"False"]
["1:16866297","T/A",null,"MQ40","0.411765","10,7",17,99,"0/1","FAM231B","3_prime_UTR_variant","Other","NM_001310155.1","NM_001310155.1:c.*227T>A",null,"NM_001310155.1","1",null,"FAM231B","NM_001310155.1","mRNA","mRNA","+","NP_001297084.1","NP_001297084.1","100133301","49506",null,"CCDS81270.1",null,"protein FAM231B",null,"True","T/A","rs156881","RS orientation is reversed,Has SubmitterLinkOut,In 3' UTR,In 3' gene region,Is Assembly specific,Is Validated,Genotypes available,1000 Genome phase 3","79","SNV","0.3363,0.6637","True","T/A","rs200136456",null,19764,"3324","0.663738",5008,982,1171,"348","0.501441",694,158,95,"803","0.607413",1322,313,245,"591","0.604294",978,247,172,"593","0.589463",1006,245,174,"989","0.981151",1008,19,485,"False"]
["1:16889985","T/C",null,"PASS","0.166667","20,4",24,92,"0/1","NBPF1","3_prime_UTR_variant","Other","NM_017940.4","NM_017940.4:c.*453A>G",null,"NM_017940.4","28",null,"NBPF1","NM_017940.4","mRNA","mRNA","-","NP_060410.2","NP_060410.2","55672","26088","610501",null,null,"neuroblastoma breakpoint family member 1",null,"True","T/C","rs6603880","Has SubmitterLinkOut,Is Assembly specific,Is Validated,Genotypes available","116","SNV",{"$nulls":36},"False"]
["1:16890071","G/A",null,"QD2","0.173913","38,8",46,99,"0/1","NBPF1","3_prime_UTR_variant","Other","NM_017940.4","NM_017940.4:c.*367C>T",null,"NM_017940.4","28",null,"NBPF1","NM_017940.4","mRNA","mRNA","-","NP_060410.2","NP_060410.2","55672","26088","610501",null,null,"neuroblastoma breakpoint family member 1",null,"True","G/A","rs4090176","Has SubmitterLinkOut,Is Assembly specific,Is Validated,Genotypes available","108","SNV",{"$nulls":36},"False"]
["1:16890130","A/C",null,"PASS","0.567164","29,38",67,99,"0/1","NBPF1","3_prime_UTR_variant","Other","NM_017940.4","NM_017940.4:c.*308T>G",null,"NM_017940.4","28",null,"NBPF1","NM_017940.4","mRNA","mRNA","-","NP_060410.2","NP_060410.2","55672","26088","610501",null,null,"neuroblastoma breakpoint family member 1",null,"True","A/C","rs1043523","RS orientation is reversed,Has SubmitterLinkOut,Is Assembly specific,Is Validated,Genotypes available","113","SNV",{"$nulls":36},"False"]
["1:16890176","A/C",null,"PASS","0.628571","39,66",105,99,"0/1","NBPF1","3_prime_UTR_variant","Other","NM_017940.4","NM_017940.4:c.*262T>G",null,"NM_017940.4","28",null,"NBPF1","NM_017940.4","mRNA","mRNA","-","NP_060410.2","NP_060410.2","55672","26088","610501",null,null,"neuroblastoma breakpoint family member 1",null,"True","A/C/T","rs3868814","Has SubmitterLinkOut,Is Assembly specific,Is Validated,Genotypes available,1000 Genome phase 3","108","SNV","0.4661,0.5335,0.0003994","True","A/C","rs3868814","MULTI_ALLELIC",67087,"2672","0.533546",5008,2266,203,"376","0.541787",694,314,31,"658","0.497731",1322,632,13,"559","0.571575",978,415,72,"570","0.5666",1006,424,73,"509","0.50496",1008,481,14,"False"]
["1:16890189","A/G",null,"QD2","0.135593","102,16",118,99,"0/1","NBPF1","3_prime_UTR_variant","Other","NM_017940.4","NM_017940.4:c.*249T>C",null,"NM_017940.4","28",null,"NBPF1","NM_017940.4","mRNA","mRNA","-","NP_060410.2","NP_060410.2","55672","26088","610501",null,null,"neuroblastoma breakpoint family member 1",null,"True","A/G","rs867966700","Has SubmitterLinkOut,Is Assembly specific","147","SNV",{"$nulls":36},"False"]
["1:16890383","C/T",null,"PASS","0.170782","403,83",486,99,"0/1","NBPF1","3_prime_UTR_variant","Other","NM_017940.4","NM_017940.4:c.*55G>A",null,"NM_017940.4","28",null,"NBPF1","NM_017940.4","mRNA","mRNA","-","NP_060410.2","NP_060410.2","55672","26088","610501",null,null,"neuroblastoma breakpoint family member 1",null,"True","C/G/T","rs3981536","RS orientation is reversed,Has SubmitterLinkOut,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Genotypes available","108","SNV",{"$nulls":36},"False"]
["1:16890421","G/A",null,"PASS","0.149047","491,86",577,99,"0/1","NBPF1","3_prime_UTR_variant","Other","NM_017940.4","NM_017940.4:c.*17C>T",null,"NM_017940.4","28",null,"NBPF1","NM_017940.4","mRNA","mRNA","-","NP_060410.2","NP_060410.2","55672","26088","610501",null,null,"neuroblastoma breakpoint family member 1",null,"True","G/A","rs2990549","Has SubmitterLinkOut,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available","101","SNV",{"$nulls":36},"False"]
["1:16890484","G/C",null,"PASS","0.293313","465,193",658,99,"0/1","NBPF1","missense_variant","Missense","NM_017940.4","NM_017940.4:c.3323C>G","NP_060410.2:p.Thr1108Arg","NM_017940.4","28","98.6049","NBPF1","NM_017940.4","mRNA","mRNA","-","NP_060410.2","NP_060410.2","55672","26088","610501",null,null,"neuroblastoma breakpoint family member 1",null,"True","G/A/C/T","rs12117084","Has SubmitterLinkOut,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Genotypes available,RS cluster has non-overlapping allele sets","120","SNV",{"$nulls":36},"False"]
["1:16890598","T/A",null,"PASS","0.557292","255,321",576,99,"0/1","NBPF1","missense_variant","Missense","NM_017940.4","NM_017940.4:c.3209A>T","NP_060410.2:p.Tyr1070Phe","NM_017940.4","28","95.2211","NBPF1","NM_017940.4","mRNA","mRNA","-","NP_060410.2","NP_060410.2","55672","26088","610501",null,null,"neuroblastoma breakpoint family member 1",null,"True","T/A","rs2990550","Has SubmitterLinkOut,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available","101","SNV",{"$nulls":36},"False"]
["1:16890602","T/G",null,"PASS","0.108997","515,63",578,99,"0/1","NBPF1","missense_variant","Missense","NM_017940.4","NM_017940.4:c.3205A>C","NP_060410.2:p.Met1069Leu","NM_017940.4","28","95.1024","NBPF1","NM_017940.4","mRNA","mRNA","-","NP_060410.2","NP_060410.2","55672","26088","610501",null,null,"neuroblastoma breakpoint family member 1",null,"True","T/C/G","rs2990551","Has SubmitterLinkOut,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Genotypes available","101","SNV",{"$nulls":36},"False"]
["1:16890644","C/T",null,"PASS","0.278293","389,150",539,99,"0/1","NBPF1","missense_variant","Missense","NM_017940.4","NM_017940.4:c.3163G>A","NP_060410.2:p.Val1055Ile","NM_017940.4","28","93.8557","NBPF1","NM_017940.4","mRNA","mRNA","-","NP_060410.2","NP_060410.2","55672","26088","610501",null,null,"neuroblastoma breakpoint family member 1",null,"True","C/T","rs2992339","RS orientation is reversed,Has SubmitterLinkOut,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available","101","SNV",{"$nulls":36},"False"]
["1:16890671","T/C",null,"PASS","0.674952","170,353",523,99,"0/1","NBPF1","missense_variant","Missense","NM_017940.4","NM_017940.4:c.3136A>G","NP_060410.2:p.Met1046Val","NM_017940.4","28","93.0543","NBPF1","NM_017940.4","mRNA","mRNA","-","NP_060410.2","NP_060410.2","55672","26088","610501",null,null,"neuroblastoma breakpoint family member 1",null,"True","T/C","rs2419526","RS orientation is reversed,Has SubmitterLinkOut,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 3","100","SNV","0.4539,0.5461","True","T/C","rs2419526","EX_TARGET",81242,"2735","0.546126",5008,2271,232,"388","0.559078",694,306,41,"673","0.509077",1322,647,13,"561","0.57362",978,417,72,"592","0.588469",1006,414,89,"521","0.516865",1008,487,17,"False"]
["1:16891333","C/T",null,"QD2","0.0945584","1015,106",1121,99,"0/1","NBPF1","missense_variant","Missense","NM_017940.4","NM_017940.4:c.3094G>A","NP_060410.2:p.Gly1032Arg","NM_017940.4","27","91.8077","NBPF1","NM_017940.4","mRNA","mRNA","-","NP_060410.2","NP_060410.2","55672","26088","610501",null,null,"neuroblastoma breakpoint family member 1",null,"True","C/T","rs3872309","RS orientation is reversed,Has SubmitterLinkOut,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available","108","SNV",{"$nulls":36},"False"]
["1:16892310","T/G",null,"FS60,SOR3","0.466667","16,14",30,99,"0/1","NBPF1","splice_region_variant","Other","NM_017940.4","NM_017940.4:c.2839-8A>C",null,"NM_017940.4","26",null,"NBPF1","NM_017940.4","mRNA","mRNA","-","NP_060410.2","NP_060410.2","55672","26088","610501",null,null,"neuroblastoma breakpoint family member 1",null,"True","T/G","rs61771015","Has SubmitterLinkOut,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations","129","SNV",{"$nulls":36},"False"]
["1:16893721","A/C",null,"QD2","0.0912606","1175,118",1293,99,"0/1","NBPF1","missense_variant","Missense","NM_017940.4","NM_017940.4:c.2792T>G","NP_060410.2:p.Phe931Cys","NM_017940.4","25","82.8436","NBPF1","NM_017940.4","mRNA","mRNA","-","NP_060410.2","NP_060410.2","55672","26088","610501",null,null,"neuroblastoma breakpoint family member 1",null,"True","A/C","rs201533998","Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations","137","SNV",{"$nulls":36},"False"]
["1:16893841","C/T",null,"PASS","0.351209","617,334",951,99,"0/1","NBPF1","missense_variant","Missense","NM_017940.4","NM_017940.4:c.2672G>A","NP_060410.2:p.Ser891Asn","NM_017940.4","25","79.2817","NBPF1","NM_017940.4","mRNA","mRNA","-","NP_060410.2","NP_060410.2","55672","26088","610501",null,null,"neuroblastoma breakpoint family member 1",null,"True","C/T","rs77284342","Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Genotypes available","131","SNV",{"$nulls":36},"False"]
["1:16895586","T/C",null,"QD2","0.126582","483,70",553,99,"0/1","NBPF1","missense_variant","Missense","NM_017940.4","NM_017940.4:c.2596A>G","NP_060410.2:p.Met866Val","NM_017940.4","23","77.0258","NBPF1","NM_017940.4","mRNA","mRNA","-","NP_060410.2","NP_060410.2","55672","26088","610501",null,null,"neuroblastoma breakpoint family member 1",null,"True","T/C/G","rs78194517","Has SubmitterLinkOut,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Genotypes available","131","SNV",{"$nulls":36},"False"]
["1:16895634","T/G",null,"MQ40","0.592803","215,313",528,99,"0/1","NBPF1","missense_variant","Missense","NM_017940.4","NM_017940.4:c.2548A>C","NP_060410.2:p.Lys850Gln","NM_017940.4","23","75.6011","NBPF1","NM_017940.4","mRNA","mRNA","-","NP_060410.2","NP_060410.2","55672","26088","610501",null,null,"neuroblastoma breakpoint family member 1",null,"True","T/G","rs849614","Has other variant with exactly the same set of mapped positions on NCBI refernce assembly,Is Assembly specific","86","SNV",{"$nulls":36},"False"]
["1:16899644","A/G",null,"MQ40,QD2","0.130952","73,11",84,99,"0/1","NBPF1","missense_variant","Missense","NM_017940.4","NM_017940.4:c.2443T>C","NP_060410.2:p.Ser815Pro","NM_017940.4","22","72.4844","NBPF1","NM_017940.4","mRNA","mRNA","-","NP_060410.2","NP_060410.2","55672","26088","610501",null,null,"neuroblastoma breakpoint family member 1",null,"False",{"$nulls":41},"False"]
["1:16901021","A/G",null,"QD2","0.128205","510,75",585,99,"0/1","NBPF1","missense_variant","Missense","NM_017940.4","NM_017940.4:c.2359T>C","NP_060410.2:p.Ser787Pro","NM_017940.4","21","69.9911","NBPF1","NM_017940.4","mRNA","mRNA","-","NP_060410.2","NP_060410.2","55672","26088","610501",null,null,"neuroblastoma breakpoint family member 1",null,"True","A/G","rs200611498","Is Assembly specific,Is Validated","137","SNV",{"$nulls":36},"False"]
["1:16901179","G/T",null,"QD2","0.114943","231,30",261,99,"0/1","NBPF1","missense_variant","Missense","NM_017940.4","NM_017940.4:c.2201C>A","NP_060410.2:p.Pro734Gln","NM_017940.4","21","65.3013","NBPF1","NM_017940.4","mRNA","mRNA","-","NP_060410.2","NP_060410.2","55672","26088","610501",null,null,"neuroblastoma breakpoint family member 1",null,"True","G/T","rs9727080","Is Assembly specific,Is Validated,Genotypes available","119","SNV",{"$nulls":36},"False"]
["1:16901710","C/G",null,"PASS","0.343318","285,149",434,99,"0/1","NBPF1","missense_variant","Missense","NM_017940.4","NM_017940.4:c.2134G>C","NP_060410.2:p.Asp712His","NM_017940.4","20","63.3126","NBPF1","NM_017940.4","mRNA","mRNA","-","NP_060410.2","NP_060410.2","55672","26088","610501",null,null,"neuroblastoma breakpoint family member 1",null,"True","C/G","rs3901680","Has SubmitterLinkOut,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available","108","SNV",{"$nulls":36},"False"]
["1:16902894","A/G",null,"MQ40,MQRankSum-12.5","0.688811","178,394",572,99,"0/1","NBPF1","missense_variant","Missense","NM_017940.4","NM_017940.4:c.1987T>C","NP_060410.2:p.Cys663Arg","NM_017940.4","19","58.9492","NBPF1","NM_017940.4","mRNA","mRNA","-","NP_060410.2","NP_060410.2","55672","26088","610501",null,null,"neuroblastoma breakpoint family member 1",null,"True","A/C/G/T","rs28453011","Has SubmitterLinkOut,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 3,RS cluster has non-overlapping allele sets","125","SNV","0.3185,,0.6815,","True","A/G","rs28453011","EX_TARGET",30785,"3413","0.68151",5008,1521,946,"448","0.645533",694,232,108,"965","0.729955",1322,335,315,"572","0.584867",978,372,100,"622","0.61829",1006,380,121,"806","0.799603",1008,202,302,"False"]
["1:16903912","T/A",null,"FS60,SOR3","0.492188","130,126",256,99,"0/1","NBPF1","missense_variant","Missense","NM_017940.4","NM_017940.4:c.1804A>T","NP_060410.2:p.Asn602Tyr","NM_017940.4","18","53.5174","NBPF1","NM_017940.4","mRNA","mRNA","-","NP_060410.2","NP_060410.2","55672","26088","610501",null,null,"neuroblastoma breakpoint family member 1",null,"True","T/A","rs61772344","Has SubmitterLinkOut,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1","129","SNV",{"$nulls":36},"False"]
["1:16905718","A/C",null,"MQ40,SOR3","0.270073","100,37",137,99,"0/1","NBPF1","missense_variant","Missense","NM_017940.4","NM_017940.4:c.1771T>G","NP_060410.2:p.Cys591Gly","NM_017940.4","17","52.5378","NBPF1","NM_017940.4","mRNA","mRNA","-","NP_060410.2","NP_060410.2","55672","26088","610501",null,null,"neuroblastoma breakpoint family member 1",null,"True","A/C","rs3738661","Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations","110","SNV",{"$nulls":36},"False"]
["1:16905789","T/C",null,"FS60,MQ40,SOR3","0.242718","78,25",103,99,"0/1","NBPF1","missense_variant","Missense","NM_017940.4","NM_017940.4:c.1700A>G","NP_060410.2:p.His567Arg","NM_017940.4","17","50.4304","NBPF1","NM_017940.4","mRNA","mRNA","-","NP_060410.2","NP_060410.2","55672","26088","610501",null,null,"neuroblastoma breakpoint family member 1",null,"True","T/C","rs4127115","Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available","120","SNV",{"$nulls":36},"False"]
["1:16905803","G/C",null,"FS60,MQ40,SOR3","0.216981","83,23",106,99,"0/1","NBPF1","missense_variant","Missense","NM_017940.4","NM_017940.4:c.1686C>G","NP_060410.2:p.Ile562Met","NM_017940.4","17","50.0148","NBPF1","NM_017940.4","mRNA","mRNA","-","NP_060410.2","NP_060410.2","55672","26088","610501",null,null,"neuroblastoma breakpoint family member 1",null,"True","G/C","rs10796417","Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available","120","SNV",{"$nulls":36},"False"]
["1:16909129","T/C",null,"MQ40,SOR3","0.422819","86,63",149,99,"0/1","NBPF1","missense_variant","Missense","NM_017940.4","NM_017940.4:c.1216A>G","NP_060410.2:p.Lys406Glu","NM_017940.4","14","36.0641","NBPF1","NM_017940.4","mRNA","mRNA","-","NP_060410.2","NP_060410.2","55672","26088","610501",null,null,"neuroblastoma breakpoint family member 1",null,"True","T/C/G","rs4996328","Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Genotypes available","129","SNV",{"$nulls":36},"False"]
["1:16912014","A/C",null,"MQ40","0.29798","139,59",198,99,"0/1","NBPF1","missense_variant","Missense","NM_017940.4","NM_017940.4:c.958T>G","NP_060410.2:p.Cys320Gly","NM_017940.4","12","28.4061","NBPF1","NM_017940.4","mRNA","mRNA","-","NP_060410.2","NP_060410.2","55672","26088","610501",null,null,"neuroblastoma breakpoint family member 1",null,"True","A/C","rs10909417","Has SubmitterLinkOut,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 3","120","SNV","0.596,0.404","True","A/C","rs143097321","EX_TARGET",59018,"2023","0.403954",5008,1993,15,"282","0.40634",694,278,2,"493","0.37292",1322,491,1,"404","0.413088",978,396,4,"392","0.389662",1006,390,1,"452","0.448413",1008,438,7,"False"]
["1:16912085","T/C",null,"MQ40,QD2","0.10303","148,17",165,99,"0/1","NBPF1","missense_variant","Missense","NM_017940.4","NM_017940.4:c.887A>G","NP_060410.2:p.His296Arg","NM_017940.4","12","26.2986","NBPF1","NM_017940.4","mRNA","mRNA","-","NP_060410.2","NP_060410.2","55672","26088","610501",null,null,"neuroblastoma breakpoint family member 1",null,"True","T/C","rs201157551","Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,1000 Genome phase 3","137","SNV","0.976,0.02396","True","T/C","rs201157551","EX_TARGET",50722,"120","0.0239617",5008,120,0,"8","0.0115274",694,8,0,"69","0.0521936",1322,69,0,"16","0.0163599",978,16,0,"22","0.0218688",1006,22,0,"5","0.00496032",1008,5,0,"False"]
["1:16912099","G/C",null,"MQ40,QD2,SOR3","0.1","144,16",160,99,"0/1","NBPF1","missense_variant","Missense","NM_017940.4","NM_017940.4:c.873C>G","NP_060410.2:p.Ile291Met","NM_017940.4","12","25.8831","NBPF1","NM_017940.4","mRNA","mRNA","-","NP_060410.2","NP_060410.2","55672","26088","610501",null,null,"neuroblastoma breakpoint family member 1",null,"True","G/A/C","rs146111334","Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,1000 Genome phase 3","134","SNV","0.9649,,0.03514","True","G/C","rs146111334","EX_TARGET",51123,"176","0.0351438",5008,176,0,"14","0.0201729",694,14,0,"107","0.080938",1322,107,0,"18","0.0184049",978,18,0,"29","0.028827",1006,29,0,"8","0.00793651",1008,8,0,"False"]
["1:16915365","G/T",null,"MQ40","0.192857","113,27",140,99,"0/1","NBPF1","missense_variant","Missense","NM_017940.4","NM_017940.4:c.472C>A","NP_060410.2:p.Leu158Ile","NM_017940.4","9","13.9804","NBPF1","NM_017940.4","mRNA","mRNA","-","NP_060410.2","NP_060410.2","55672","26088","610501",null,null,"neuroblastoma breakpoint family member 1",null,"True","G/T","rs200168962","Has SubmitterLinkOut,Is Assembly specific,Is Validated,1000 Genome phase 3","137","SNV","0.9882,0.01178","True","G/T","rs200168962","EX_TARGET",28454,"59","0.0117812",5008,57,1,"5","0.00720461",694,5,0,"1","0.00075643",1322,1,0,"7","0.00715746",978,7,0,"45","0.0447316",1006,43,1,"1","0.000992064",1008,1,0,"False"]
["1:16915434","T/C",null,"FS60,MQ40,SOR3","0.208696","91,24",115,99,"0/1","NBPF1","missense_variant","Missense","NM_017940.4","NM_017940.4:c.403A>G","NP_060410.2:p.Lys135Glu","NM_017940.4","9","11.9323","NBPF1","NM_017940.4","mRNA","mRNA","-","NP_060410.2","NP_060410.2","55672","26088","610501",null,null,"neuroblastoma breakpoint family member 1",null,"True","T/C/G","rs202129231","Has SubmitterLinkOut,Is Assembly specific,Is Validated","137","SNV",{"$nulls":36},"False"]
["1:16918424","G/C",null,"MQRankSum-12.5","0.195988","521,127",648,99,"0/1","NBPF1","missense_variant","Missense","NM_017940.4","NM_017940.4:c.93C>G","NP_060410.2:p.Asn31Lys","NM_017940.4","7","2.73078","NBPF1","NM_017940.4","mRNA","mRNA","-","NP_060410.2","NP_060410.2","55672","26088","610501",null,null,"neuroblastoma breakpoint family member 1",null,"True","G/C","rs9730077","Has SubmitterLinkOut,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations","119","SNV",{"$nulls":36},"False"]
["1:16918457","G/C",null,"MQRankSum-12.5","0.0871795","534,51",585,99,"0/1","NBPF1","missense_variant","Missense","NM_017940.4","NM_017940.4:c.60C>G","NP_060410.2:p.Ile20Met","NM_017940.4","7","1.75126","NBPF1","NM_017940.4","mRNA","mRNA","-","NP_060410.2","NP_060410.2","55672","26088","610501",null,null,"neuroblastoma breakpoint family member 1",null,"True","G/C","rs9730080","Is Assembly specific,Is Validated","119","SNV",{"$nulls":36},"False"]
["1:16918462","C/T",null,"MQRankSum-12.5,QD2","0.0894454","509,50",559,99,"0/1","NBPF1","missense_variant","Missense","NM_017940.4","NM_017940.4:c.55G>A","NP_060410.2:p.Glu19Lys","NM_017940.4","7","1.60285","NBPF1","NM_017940.4","mRNA","mRNA","-","NP_060410.2","NP_060410.2","55672","26088","610501",null,null,"neuroblastoma breakpoint family member 1",null,"True","C/T","rs770962092","Is Assembly specific","144","SNV",{"$nulls":36},"False"]
["1:16918486","C/T",null,"QD2","0.122288","445,62",507,99,"0/1","NBPF1","missense_variant","Missense","NM_017940.4","NM_017940.4:c.31G>A","NP_060410.2:p.Glu11Lys","NM_017940.4","7","0.890472","NBPF1","NM_017940.4","mRNA","mRNA","-","NP_060410.2","NP_060410.2","55672","26088","610501",null,null,"neuroblastoma breakpoint family member 1",null,"True","C/A/G/T","rs199564458","Has SubmitterLinkOut,Is Assembly specific,Is Validated,1000 Genome phase 3,RS cluster has non-overlapping allele sets","137","SNV","0.9848,,0.002196,0.01298","True","C/T","rs199564458","MULTI_ALLELIC,EX_TARGET",65953,"65","0.0129792",5008,65,0,"11","0.0158501",694,11,0,"3","0.00226929",1322,3,0,"14","0.0143149",978,14,0,"37","0.0367793",1006,37,0,"0","0",1008,0,0,"False"]
["1:16918717","C/T",null,"PASS","0.153374","138,25",163,99,"0/1","NBPF1","5_prime_UTR_variant","Other","NM_017940.4","NM_017940.4:c.-99G>A",null,"NM_017940.4","6",null,"NBPF1","NM_017940.4","mRNA","mRNA","-","NP_060410.2","NP_060410.2","55672","26088","610501",null,null,"neuroblastoma breakpoint family member 1",null,"True","C/T","rs3872321","Has SubmitterLinkOut,Is Assembly specific,Is Validated,Genotypes available","108","SNV",{"$nulls":36},"False"]
["1:16918734","G/C",null,"PASS","0.145833","123,21",144,99,"0/1","NBPF1","5_prime_UTR_variant","Other","NM_017940.4","NM_017940.4:c.-116C>G",null,"NM_017940.4","6",null,"NBPF1","NM_017940.4","mRNA","mRNA","-","NP_060410.2","NP_060410.2","55672","26088","610501",null,null,"neuroblastoma breakpoint family member 1",null,"True","G/C","rs3928093","Has SubmitterLinkOut,Is Assembly specific,Is Validated,Genotypes available","108","SNV",{"$nulls":36},"False"]
["1:16935059","G/A",null,"QD2","0.117117","196,26",222,99,"0/1","NBPF1","5_prime_UTR_variant","Other","NM_017940.4","NM_017940.4:c.-523C>T",null,"NM_017940.4","2",null,"NBPF1","NM_017940.4","mRNA","mRNA","-","NP_060410.2","NP_060410.2","55672","26088","610501",null,null,"neuroblastoma breakpoint family member 1",null,"False",{"$nulls":41},"False"]
["1:16935130","C/T",null,"PASS","0.151203","247,44",291,99,"0/1","NBPF1","5_prime_UTR_variant","Other","NM_017940.4","NM_017940.4:c.-594G>A",null,"NM_017940.4","2",null,"NBPF1","NM_017940.4","mRNA","mRNA","-","NP_060410.2","NP_060410.2","55672","26088","610501",null,null,"neuroblastoma breakpoint family member 1",null,"True","C/T","rs1762921","Has SubmitterLinkOut,Is Assembly specific,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available","89","SNV",{"$nulls":36},"False"]
["1:16935197","A/G",null,"QD2","0.105919","287,34",321,99,"0/1","NBPF1","5_prime_UTR_variant","Other","NM_017940.4","NM_017940.4:c.-661T>C",null,"NM_017940.4","2",null,"NBPF1","NM_017940.4","mRNA","mRNA","-","NP_060410.2","NP_060410.2","55672","26088","610501",null,null,"neuroblastoma breakpoint family member 1",null,"True","A/G","rs201118874","Has SubmitterLinkOut,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),1000 Genome phase 3","137","SNV","0.9726,0.02736","True","A/G","rs201118874",null,74656,"137","0.0273562",5008,137,0,"30","0.0432277",694,30,0,"9","0.00680787",1322,9,0,"25","0.0255624",978,25,0,"73","0.0725646",1006,73,0,"0","0",1008,0,0,"False"]
["1:16940079","A/C",null,"PASS","0.6","2,3",5,64,"0/1","NBPF1","5_prime_UTR_variant","Other","NM_017940.4","NM_017940.4:c.-985T>G",null,"NM_017940.4","1",null,"NBPF1","NM_017940.4","mRNA","mRNA","-","NP_060410.2","NP_060410.2","55672","26088","610501",null,null,"neuroblastoma breakpoint family member 1",null,"True","A/C","rs1759197","Has SubmitterLinkOut,Is Assembly specific,Is Validated,Genotypes available","89","SNV",{"$nulls":36},"False"]
["1:17081571","T/C",null,"MQ40,QUAL30","0.666667","1,2",3,30,"0/1","MST1L","3_prime_UTR_variant","Other","NM_001271733.1","NM_001271733.1:c.*2156A>G",null,"NM_001271733.1","15",null,"MST1L","NM_001271733.1","mRNA","mRNA","-","NP_001258662.1","NP_001258662.1","11223","7390",{"$nulls":3},"putative macrophage stimulating 1-like protein",null,"True","T/C","rs4233555","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific","111","SNV",{"$nulls":36},"False"]
["1:17083485","A/G",null,"QD2","0.185185","22,5",27,81,"0/1","MST1L","3_prime_UTR_variant","Other","NM_001271733.1","NM_001271733.1:c.*242T>C",null,"NM_001271733.1","15",null,"MST1L","NM_001271733.1","mRNA","mRNA","-","NP_001258662.1","NP_001258662.1","11223","7390",{"$nulls":3},"putative macrophage stimulating 1-like protein",null,"True","A/G","rs371742490","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific","138","SNV",{"$nulls":36},"False"]
["1:17083568","G/A",null,"PASS","0.351648","59,32",91,99,"0/1","MST1L","3_prime_UTR_variant","Other","NM_001271733.1","NM_001271733.1:c.*159C>T",null,"NM_001271733.1","15",null,"MST1L","NM_001271733.1","mRNA","mRNA","-","NP_001258662.1","NP_001258662.1","11223","7390",{"$nulls":3},"putative macrophage stimulating 1-like protein",null,"True","G/A","rs10159208","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,Genotypes available","119","SNV",{"$nulls":36},"False"]
["1:17083671","C/G",null,"PASS","0.282609","165,65",230,99,"0/1","MST1L","3_prime_UTR_variant","Other","NM_001271733.1","NM_001271733.1:c.*56G>C",null,"NM_001271733.1","15",null,"MST1L","NM_001271733.1","mRNA","mRNA","-","NP_001258662.1","NP_001258662.1","11223","7390",{"$nulls":3},"putative macrophage stimulating 1-like protein",null,"True","C/G","rs1057420","RS orientation is reversed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,Genotypes available","86","SNV",{"$nulls":36},"False"]
["1:17083685","C/A",null,"PASS","0.262712","174,62",236,99,"0/1","MST1L","3_prime_UTR_variant","Other","NM_001271733.1","NM_001271733.1:c.*42G>T",null,"NM_001271733.1","15",null,"MST1L","NM_001271733.1","mRNA","mRNA","-","NP_001258662.1","NP_001258662.1","11223","7390",{"$nulls":3},"putative macrophage stimulating 1-like protein",null,"True","C/A","rs3197973","RS orientation is reversed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available","105","SNV",{"$nulls":36},"False"]
["1:17083714","G/A",null,"PASS","0.195219","202,49",251,99,"0/1","MST1L","3_prime_UTR_variant","Other","NM_001271733.1","NM_001271733.1:c.*13C>T",null,"NM_001271733.1","15",null,"MST1L","NM_001271733.1","mRNA","mRNA","-","NP_001258662.1","NP_001258662.1","11223","7390",{"$nulls":3},"putative macrophage stimulating 1-like protein",null,"True","G/A","rs145347758","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated","134","SNV",{"$nulls":36},"False"]
["1:17083807","T/C",null,"MQ40,MQRankSum-12.5","0.688073","68,150",218,99,"0/1","MST1L","missense_variant","Missense","NM_001271733.1","NM_001271733.1:c.1990A>G","NP_001258662.1:p.Thr664Ala","NM_001271733.1","15","96.087","MST1L","NM_001271733.1","mRNA","mRNA","-","NP_001258662.1","NP_001258662.1","11223","7390",{"$nulls":3},"putative macrophage stimulating 1-like protein",null,"True","T/A/C","rs1057346","RS orientation is reversed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 3","86","SNV","0.3103,,0.6897","True","T/C","rs1057346",null,27344,"3454","0.689696",5008,1190,1132,"516","0.743516",694,144,186,"733","0.554463",1322,397,168,"633","0.647239",978,281,176,"683","0.678926",1006,251,216,"889","0.881944",1008,117,386,"False"]
["1:17083837","T/C",null,"MQ40","0.172","207,43",250,99,"0/1","MST1L","missense_variant","Missense","NM_001271733.1","NM_001271733.1:c.1960A>G","NP_001258662.1:p.Lys654Glu","NM_001271733.1","15","94.6377","MST1L","NM_001271733.1","mRNA","mRNA","-","NP_001258662.1","NP_001258662.1","11223","7390",{"$nulls":3},"putative macrophage stimulating 1-like protein",null,"True","T/C","rs7798","RS orientation is reversed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 3","114","SNV","0.8411,0.1589","True","T/C","rs7798","EX_TARGET",39830,"796","0.158946",5008,742,27,"102","0.146974",694,98,2,"455","0.344175",1322,409,23,"106","0.108384",978,106,0,"119","0.11829",1006,115,2,"14","0.0138889",1008,14,0,"False"]
["1:17084006","C/T",null,"MQ40","0.338658","207,106",313,99,"0/1","MST1L","splice_region_variant","Other","NM_001271733.1","NM_001271733.1:c.1908+7G>A",null,"NM_001271733.1","14",null,"MST1L","NM_001271733.1","mRNA","mRNA","-","NP_001258662.1","NP_001258662.1","11223","7390",{"$nulls":3},"putative macrophage stimulating 1-like protein",null,"True","C/T","rs2446544","RS orientation is reversed,Has SubmitterLinkOut,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations","100","SNV",{"$nulls":36},"False"]
["1:17084021","C/G",null,"QD2","0.122324","287,40",327,99,"0/1","MST1L","missense_variant","Missense","NM_001271733.1","NM_001271733.1:c.1900G>C","NP_001258662.1:p.Ala634Pro","NM_001271733.1","14","91.7391","MST1L","NM_001271733.1","mRNA","mRNA","-","NP_001258662.1","NP_001258662.1","11223","7390",{"$nulls":3},"putative macrophage stimulating 1-like protein",null,"True","C/G","rs2446543","RS orientation is reversed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Genotypes available","100","SNV",{"$nulls":36},"False"]
["1:17084361","A/G",null,"PASS","0.15678","199,37",236,99,"0/1","MST1L","splice_region_variant","Other","NM_001271733.1","NM_001271733.1:c.1662-6T>C",null,"NM_001271733.1","13",null,"MST1L","NM_001271733.1","mRNA","mRNA","-","NP_001258662.1","NP_001258662.1","11223","7390",{"$nulls":3},"putative macrophage stimulating 1-like protein",null,"True","A/G","rs2260181","RS orientation is reversed,In Intron,Is Assembly specific,Is Validated","100","SNV",{"$nulls":36},"False"]
["1:17084968","G/C",null,"PASS","0.163551","179,35",214,99,"0/1","MST1L","missense_variant","Missense","NM_001271733.1","NM_001271733.1:c.1507C>G","NP_001258662.1:p.Arg503Gly","NM_001271733.1","11","72.7536","MST1L","NM_001271733.1","mRNA","mRNA","-","NP_001258662.1","NP_001258662.1","11223","7390",{"$nulls":3},"putative macrophage stimulating 1-like protein",null,"True","G/C","rs2761533","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available","100","SNV",{"$nulls":36},"False"]
["1:17085046","C/G",null,"PASS","0.179487","160,35",195,99,"0/1","MST1L","missense_variant","Missense","NM_001271733.1","NM_001271733.1:c.1429G>C","NP_001258662.1:p.Asp477His","NM_001271733.1","11","68.9855","MST1L","NM_001271733.1","mRNA","mRNA","-","NP_001258662.1","NP_001258662.1","11223","7390",{"$nulls":3},"putative macrophage stimulating 1-like protein",null,"True","C/G","rs200838083","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated","137","SNV",{"$nulls":36},"False"]
["1:17085412","C/T",null,"PASS","0.304636","210,92",302,99,"0/1","MST1L","missense_variant","Missense","NM_001271733.1","NM_001271733.1:c.1279G>A","NP_001258662.1:p.Ala427Thr","NM_001271733.1","10","61.7391","MST1L","NM_001271733.1","mRNA","mRNA","-","NP_001258662.1","NP_001258662.1","11223","7390",{"$nulls":3},"putative macrophage stimulating 1-like protein",null,"True","C/T","rs872964","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 3","86","SNV","0.5401,0.4599","True","C/T","rs872964",null,53359,"2303","0.459864",5008,2283,10,"323","0.465418",694,323,0,"636","0.481089",1322,616,10,"465","0.47546",978,465,0,"420","0.417495",1006,420,0,"459","0.455357",1008,459,0,"False"]
["1:17085427","T/C",null,"MQRankSum-12.5","0.333333","216,108",324,99,"0/1","MST1L","missense_variant","Missense","NM_001271733.1","NM_001271733.1:c.1264A>G","NP_001258662.1:p.Ile422Val","NM_001271733.1","10","61.0145","MST1L","NM_001271733.1","mRNA","mRNA","-","NP_001258662.1","NP_001258662.1","11223","7390",{"$nulls":3},"putative macrophage stimulating 1-like protein",null,"True","T/C","rs2002186","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available","92","SNV",{"$nulls":36},"False"]
["1:17085502","T/C",null,"PASS","0.586103","137,194",331,99,"0/1","MST1L","missense_variant","Missense","NM_001271733.1","NM_001271733.1:c.1189A>G","NP_001258662.1:p.Met397Val","NM_001271733.1","10","57.3913","MST1L","NM_001271733.1","mRNA","mRNA","-","NP_001258662.1","NP_001258662.1","11223","7390",{"$nulls":3},"putative macrophage stimulating 1-like protein",null,"True","T/C","rs2329006","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available","114","SNV",{"$nulls":36},"False"]
["1:17085564","A/G",null,"PASS","0.314381","205,94",299,99,"0/1","MST1L","missense_variant","Missense","NM_001271733.1","NM_001271733.1:c.1157T>C","NP_001258662.1:p.Leu386Pro","NM_001271733.1","9","55.8454","MST1L","NM_001271733.1","mRNA","mRNA","-","NP_001258662.1","NP_001258662.1","11223","7390",{"$nulls":3},"putative macrophage stimulating 1-like protein",null,"True","A/G","rs3851921","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available","108","SNV",{"$nulls":36},"False"]
["1:17085589","A/C",null,"PASS","0.16996","210,43",253,99,"0/1","MST1L","missense_variant","Missense","NM_001271733.1","NM_001271733.1:c.1132T>G","NP_001258662.1:p.Trp378Gly","NM_001271733.1","9","54.6377","MST1L","NM_001271733.1","mRNA","mRNA","-","NP_001258662.1","NP_001258662.1","11223","7390",{"$nulls":3},"putative macrophage stimulating 1-like protein",null,"True","A/C","rs3863807","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,Genotypes available","108","SNV",{"$nulls":36},"False"]
["1:17085671","C/G",null,"PASS","0.201794","178,45",223,99,"0/1","MST1L","splice_region_variant","Other","NM_001271733.1","NM_001271733.1:c.1058-8G>C",null,"NM_001271733.1","9",null,"MST1L","NM_001271733.1","mRNA","mRNA","-","NP_001258662.1","NP_001258662.1","11223","7390",{"$nulls":3},"putative macrophage stimulating 1-like protein",null,"True","C/G","rs3863806","Has SubmitterLinkOut,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available","108","SNV",{"$nulls":36},"False"]
["1:17085865","A/G",null,"QD2","0.0932203","107,11",118,14,"0/1","MST1L","missense_variant","Missense","NM_001271733.1","NM_001271733.1:c.956T>C","NP_001258662.1:p.Leu319Pro","NM_001271733.1","8","46.1353","MST1L","NM_001271733.1","mRNA","mRNA","-","NP_001258662.1","NP_001258662.1","11223","7390",{"$nulls":3},"putative macrophage stimulating 1-like protein",null,"True","A/C/G","rs1057378","RS orientation is reversed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,Genotypes available","104","SNV",{"$nulls":36},"False"]
["1:17085872","A/G",null,"PASS","0.123894","99,14",113,99,"0/1","MST1L","missense_variant","Missense","NM_001271733.1","NM_001271733.1:c.949T>C","NP_001258662.1:p.Trp317Arg","NM_001271733.1","8","45.7971","MST1L","NM_001271733.1","mRNA","mRNA","-","NP_001258662.1","NP_001258662.1","11223","7390",{"$nulls":3},"putative macrophage stimulating 1-like protein",null,"True","A/C/G","rs1806514","RS orientation is reversed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,Genotypes available","92","SNV",{"$nulls":36},"False"]
["1:17086439","C/T",null,"MQ40","0.327586","78,38",116,99,"0/1","MST1L","stop_gained","LoF","NM_001271733.1","NM_001271733.1:c.660G>A","NP_001258662.1:p.Trp220Ter","NM_001271733.1","6","31.8358","MST1L","NM_001271733.1","mRNA","mRNA","-","NP_001258662.1","NP_001258662.1","11223","7390",{"$nulls":3},"putative macrophage stimulating 1-like protein",null,"True","C/T","rs199717911","Has SubmitterLinkOut,Has non-synonymous nonsense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,Genotypes available","137","SNV",{"$nulls":36},"False"]
["1:17086450","C/G",null,"MQ40","0.346154","68,36",104,99,"0/1","MST1L","missense_variant","Missense","NM_001271733.1","NM_001271733.1:c.649G>C","NP_001258662.1:p.Glu217Gln","NM_001271733.1","6","31.3043","MST1L","NM_001271733.1","mRNA","mRNA","-","NP_001258662.1","NP_001258662.1","11223","7390",{"$nulls":3},"putative macrophage stimulating 1-like protein",null,"True","C/G","rs2761540","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,Genotypes available","100","SNV",{"$nulls":36},"False"]
["1:17086464","T/C",null,"MQ40","0.347826","60,32",92,99,"0/1","MST1L","missense_variant","Missense","NM_001271733.1","NM_001271733.1:c.635A>G","NP_001258662.1:p.Asn212Ser","NM_001271733.1","6","30.628","MST1L","NM_001271733.1","mRNA","mRNA","-","NP_001258662.1","NP_001258662.1","11223","7390",{"$nulls":3},"putative macrophage stimulating 1-like protein",null,"True","T/C","rs2761541","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,Genotypes available","100","SNV",{"$nulls":36},"False"]
["1:17086651","C/T",null,"MQ40","0.30137","51,22",73,99,"0/1","MST1L","missense_variant","Missense","NM_001271733.1","NM_001271733.1:c.592G>A","NP_001258662.1:p.Gly198Ser","NM_001271733.1","5","28.5507","MST1L","NM_001271733.1","mRNA","mRNA","-","NP_001258662.1","NP_001258662.1","11223","7390",{"$nulls":3},"putative macrophage stimulating 1-like protein",null,"True","C/A/T","rs569755712","Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,1000 Genome phase 3","142","SNV","0.9671,,0.03295","True","C/T","rs569755712","EX_TARGET",40849,"165","0.0329473",5008,165,0,"13","0.018732",694,13,0,"62","0.0468986",1322,62,0,"32","0.0327198",978,32,0,"57","0.05666",1006,57,0,"1","0.000992064",1008,1,0,"False"]
["1:17086870","T/C",null,"PASS","0.19337","146,35",181,99,"0/1","MST1L","missense_variant","Missense","NM_001271733.1","NM_001271733.1:c.454A>G","NP_001258662.1:p.Ser152Gly","NM_001271733.1","4","21.8841","MST1L","NM_001271733.1","mRNA","mRNA","-","NP_001258662.1","NP_001258662.1","11223","7390",{"$nulls":3},"putative macrophage stimulating 1-like protein",null,"True","T/C/G","rs2261727","RS orientation is reversed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 3","100","SNV","0.4996,0.5004,","True","T/C","rs2261727",null,18293,"2506","0.500399",5008,1198,654,"316","0.455331",694,182,67,"459","0.347201",1322,293,83,"432","0.441718",978,256,88,"506","0.502982",1006,286,110,"793","0.786706",1008,181,306,"False"]
["1:17086941","C/T",null,"PASS","0.19802","162,40",202,99,"0/1","MST1L","missense_variant","Missense","NM_001271733.1","NM_001271733.1:c.383G>A","NP_001258662.1:p.Arg128His","NM_001271733.1","4","18.4541","MST1L","NM_001271733.1","mRNA","mRNA","-","NP_001258662.1","NP_001258662.1","11223","7390",{"$nulls":3},"putative macrophage stimulating 1-like protein",null,"True","C/A/T","rs28462251","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,1000 Genome phase 3","125","SNV","0.8181,,0.1819","True","C/T","rs28462251","EX_TARGET",35567,"911","0.181909",5008,907,2,"135","0.194524",694,135,0,"164","0.124054",1322,160,2,"198","0.202454",978,198,0,"205","0.203777",1006,205,0,"209","0.207341",1008,209,0,"False"]
["1:17087262","C/T",null,"PASS","0.372881","222,132",354,99,"0/1","MST1L","missense_variant","Missense","NM_001271733.1","NM_001271733.1:c.322G>A","NP_001258662.1:p.Glu108Lys","NM_001271733.1","3","15.5072","MST1L","NM_001271733.1","mRNA","mRNA","-","NP_001258662.1","NP_001258662.1","11223","7390",{"$nulls":3},"putative macrophage stimulating 1-like protein",null,"True","C/T","rs2926375","RS orientation is reversed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available","101","SNV",{"$nulls":36},"False"]
["1:17087465","G/A",null,"PASS","0.137662","332,53",385,99,"0/1","MST1L","missense_variant","Missense","NM_001271733.1","NM_001271733.1:c.200C>T","NP_001258662.1:p.Pro67Leu","NM_001271733.1","2","9.61353","MST1L","NM_001271733.1","mRNA","mRNA","-","NP_001258662.1","NP_001258662.1","11223","7390",{"$nulls":3},"putative macrophage stimulating 1-like protein",null,"True","G/A","rs11260924","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available","120","SNV",{"$nulls":36},"False"]
["1:17087582","G/A",null,"MQRankSum-12.5","0.432836","152,116",268,99,"0/1","MST1L","missense_variant","Missense","NM_001271733.1","NM_001271733.1:c.83C>T","NP_001258662.1:p.Ser28Leu","NM_001271733.1","2","3.96135","MST1L","NM_001271733.1","mRNA","mRNA","-","NP_001258662.1","NP_001258662.1","11223","7390",{"$nulls":3},"putative macrophage stimulating 1-like protein",null,"True","G/A/C","rs10907280","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Genotypes available","120","SNV",{"$nulls":36},"False"]
["1:17248500","A/G",null,"PASS","0.264368","64,23",87,99,"0/1","CROCC","5_prime_UTR_variant","Other","NM_014675.4","NM_014675.4:c.-14A>G",null,"NM_014675.4","1",null,"CROCC","NM_014675.4","mRNA","mRNA","+","NP_055490.4","NP_055490.4","9696","21299","615776","CCDS30616.1",null,"rootletin",null,"True","A/G","rs6683035","Has SubmitterLinkOut,In 5' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1","116","SNV",{"$nulls":36},"True","esv3585353;esv3585354,esv3585353;esv3585354","Gain,Gain","<CN2>,<CN3>","DUP_gs,DUP_gs","EX_TARGET,EX_TARGET","31002,31002","2410,75","0.48123,0.014976","5008,5008","1186,71","612,2","313,8","0.451009,0.0115274","694,694","153,8","80,0","698,54","0.527988,0.0408472","1322,1322","332,50","183,2","313,2","0.320041,0.00204499","978,978","221,2","46,0","465,7","0.462227,0.00695825","1006,1006","243,7","111,0","621,4","0.616071,0.00396825","1008,1008","237,4","192,0"]
["1:17257840","C/G",null,"PASS","0.285714","85,34",119,99,"0/1","CROCC","missense_variant","Missense","NM_014675.4","NM_014675.4:c.904C>G","NP_055490.4:p.Gln302Glu","NM_014675.4","8","14.9158","CROCC","NM_014675.4","mRNA","mRNA","+","NP_055490.4","NP_055490.4","9696","21299","615776","CCDS30616.1",null,"rootletin",null,"True","C/A/G","rs143501240","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),1000 Genome phase 1,1000 Genome phase 3","134","SNV","0.9802,,0.01977","True","C/G","rs143501240","EX_TARGET",30269,"99","0.0197684",5008,99,0,"23","0.0331412",694,23,0,"5","0.00378215",1322,5,0,"14","0.0143149",978,14,0,"57","0.05666",1006,57,0,"0","0",1008,0,0,"True","esv3585353;esv3585354,esv3585353;esv3585354","Gain,Gain","<CN2>,<CN3>","DUP_gs,DUP_gs","EX_TARGET,EX_TARGET","31002,31002","2410,75","0.48123,0.014976","5008,5008","1186,71","612,2","313,8","0.451009,0.0115274","694,694","153,8","80,0","698,54","0.527988,0.0408472","1322,1322","332,50","183,2","313,2","0.320041,0.00204499","978,978","221,2","46,0","465,7","0.462227,0.00695825","1006,1006","243,7","111,0","621,4","0.616071,0.00396825","1008,1008","237,4","192,0"]
["1:17265416","G/T",null,"PASS","0.3","28,12",40,99,"0/1","CROCC","missense_variant","Missense","NM_014675.4","NM_014675.4:c.1387G>T","NP_055490.4:p.Asp463Tyr","NM_014675.4","12","22.894","CROCC","NM_014675.4","mRNA","mRNA","+","NP_055490.4","NP_055490.4","9696","21299","615776","CCDS30616.1",null,"rootletin",null,"True","G/T","rs114323849","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,Marker on high density genotype kit (50K+),1000 Genome phase 1,1000 Genome phase 3","132","SNV","0.9836,0.01637","True","G/T","rs114323849","EX_TARGET",18158,"82","0.0163738",5008,82,0,"21","0.0302594",694,21,0,"5","0.00378215",1322,5,0,"11","0.0112474",978,11,0,"45","0.0447316",1006,45,0,"0","0",1008,0,0,"True","esv3585353;esv3585354,esv3585353;esv3585354,esv3585355;esv3585356,esv3585355;esv3585356","Gain,Gain,Gain,Gain","<CN2>,<CN3>,<CN2>,<CN3>","DUP_gs,DUP_gs,DUP_gs,DUP_gs","EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET","31002,31002,25870,25870","2410,75,2399,79","0.48123,0.014976,0.479034,0.0157748","5008,5008,5008,5008","1186,71,1199,77","612,2,600,1","313,8,308,12","0.451009,0.0115274,0.443804,0.0172911","694,694,694,694","153,8,158,12","80,0,75,0","698,54,697,56","0.527988,0.0408472,0.527231,0.0423601","1322,1322,1322,1322","332,50,331,54","183,2,183,1","313,2,315,1","0.320041,0.00204499,0.322086,0.00102249","978,978,978,978","221,2,223,1","46,0,46,0","465,7,466,6","0.462227,0.00695825,0.463221,0.00596421","1006,1006,1006,1006","243,7,240,6","111,0,113,0","621,4,613,4","0.616071,0.00396825,0.608135,0.00396825","1008,1008,1008,1008","237,4,247,4","192,0,183,0"]
["1:17271989","G/A",null,"PASS","0.263158","84,30",114,99,"0/1","CROCC","missense_variant","Missense","NM_014675.4","NM_014675.4:c.2024G>A","NP_055490.4:p.Arg675His","NM_014675.4","15","33.4159","CROCC","NM_014675.4","mRNA","mRNA","+","NP_055490.4","NP_055490.4","9696","21299","615776","CCDS30616.1",null,"rootletin",null,"True","G/A","rs147139590","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,1000 Genome phase 1","137","SNV",{"$nulls":36},"True","esv3585355;esv3585356,esv3585355;esv3585356","Gain,Gain","<CN2>,<CN3>","DUP_gs,DUP_gs","EX_TARGET,EX_TARGET","25870,25870","2399,79","0.479034,0.0157748","5008,5008","1199,77","600,1","308,12","0.443804,0.0172911","694,694","158,12","75,0","697,56","0.527231,0.0423601","1322,1322","331,54","183,1","315,1","0.322086,0.00102249","978,978","223,1","46,0","466,6","0.463221,0.00596421","1006,1006","240,6","113,0","613,4","0.608135,0.00396825","1008,1008","247,4","183,0"]
["1:17272037","G/A",null,"PASS","0.306306","77,34",111,99,"0/1","CROCC","missense_variant","Missense","NM_014675.4","NM_014675.4:c.2072G>A","NP_055490.4:p.Arg691His","NM_014675.4","15","34.2088","CROCC","NM_014675.4","mRNA","mRNA","+","NP_055490.4","NP_055490.4","9696","21299","615776","CCDS30616.1",null,"rootletin",null,"True","G/A","rs142404824","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,1000 Genome phase 1","137","SNV",{"$nulls":36},"True","esv3585355;esv3585356,esv3585355;esv3585356","Gain,Gain","<CN2>,<CN3>","DUP_gs,DUP_gs","EX_TARGET,EX_TARGET","25870,25870","2399,79","0.479034,0.0157748","5008,5008","1199,77","600,1","308,12","0.443804,0.0172911","694,694","158,12","75,0","697,56","0.527231,0.0423601","1322,1322","331,54","183,1","315,1","0.322086,0.00102249","978,978","223,1","46,0","466,6","0.463221,0.00596421","1006,1006","240,6","113,0","613,4","0.608135,0.00396825","1008,1008","247,4","183,0"]
["1:17273443","C/T",null,"PASS","0.320388","70,33",103,99,"0/1","CROCC","missense_variant","Missense","NM_014675.4","NM_014675.4:c.2471C>T","NP_055490.4:p.Thr824Met","NM_014675.4","17","40.7995","CROCC","NM_014675.4","mRNA","mRNA","+","NP_055490.4","NP_055490.4","9696","21299","615776","CCDS30616.1",null,"rootletin",null,"True","C/T","rs74657070","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","131","SNV","0.9698,0.03015","True","C/T","rs74657070","EX_TARGET",20767,"151","0.0301518",5008,151,0,"26","0.037464",694,26,0,"62","0.0468986",1322,62,0,"9","0.00920245",978,9,0,"54","0.0536779",1006,54,0,"0","0",1008,0,0,"True","esv3585355;esv3585356,esv3585355;esv3585356","Gain,Gain","<CN2>,<CN3>","DUP_gs,DUP_gs","EX_TARGET,EX_TARGET","25870,25870","2399,79","0.479034,0.0157748","5008,5008","1199,77","600,1","308,12","0.443804,0.0172911","694,694","158,12","75,0","697,56","0.527231,0.0423601","1322,1322","331,54","183,1","315,1","0.322086,0.00102249","978,978","223,1","46,0","466,6","0.463221,0.00596421","1006,1006","240,6","113,0","613,4","0.608135,0.00396825","1008,1008","247,4","183,0"]
["1:17273493","A/C",null,"PASS","0.690141","22,49",71,99,"0/1","CROCC","splice_region_variant","Other","NM_014675.4","NM_014675.4:c.2514+7A>C",null,"NM_014675.4","17",null,"CROCC","NM_014675.4","mRNA","mRNA","+","NP_055490.4","NP_055490.4","9696","21299","615776","CCDS30616.1",null,"rootletin",null,"True","A/C","rs7537563","Has SubmitterLinkOut,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1","116","SNV",{"$nulls":36},"True","esv3585355;esv3585356,esv3585355;esv3585356","Gain,Gain","<CN2>,<CN3>","DUP_gs,DUP_gs","EX_TARGET,EX_TARGET","25870,25870","2399,79","0.479034,0.0157748","5008,5008","1199,77","600,1","308,12","0.443804,0.0172911","694,694","158,12","75,0","697,56","0.527231,0.0423601","1322,1322","331,54","183,1","315,1","0.322086,0.00102249","978,978","223,1","46,0","466,6","0.463221,0.00596421","1006,1006","240,6","113,0","613,4","0.608135,0.00396825","1008,1008","247,4","183,0"]
["1:17275018","C/A",null,"PASS","0.355932","38,21",59,99,"0/1","CROCC","missense_variant","Missense","NM_014675.4","NM_014675.4:c.2707C>A","NP_055490.4:p.Arg903Ser","NM_014675.4","18","44.6977","CROCC","NM_014675.4","mRNA","mRNA","+","NP_055490.4","NP_055490.4","9696","21299","615776","CCDS30616.1",null,"rootletin",null,"True","C/A/T","rs114863724","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),1000 Genome phase 1,1000 Genome phase 3","132","SNV","0.981,0.01897,","True","C/A","rs114863724","EX_TARGET",24307,"95","0.0189696",5008,95,0,"21","0.0302594",694,21,0,"4","0.00302572",1322,4,0,"14","0.0143149",978,14,0,"56","0.055666",1006,56,0,"0","0",1008,0,0,"False"]
["1:17281235","G/A",null,"PASS","0.276596","34,13",47,99,"0/1","CROCC","missense_variant","Missense","NM_014675.4","NM_014675.4:c.3328G>A","NP_055490.4:p.Val1110Met","NM_014675.4","23","54.9554","CROCC","NM_014675.4","mRNA","mRNA","+","NP_055490.4","NP_055490.4","9696","21299","615776","CCDS30616.1",null,"rootletin",null,"True","G/A","rs41272737","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","127","SNV","0.9607,0.03934","True","G/A","rs41272737","EX_TARGET",17120,"197","0.0393371",5008,187,5,"11","0.0158501",694,11,0,"126","0.0953101",1322,118,4,"11","0.0112474",978,11,0,"48","0.0477137",1006,46,1,"1","0.000992064",1008,1,0,"False"]
["1:17287301","A/G",null,"PASS","0.5","23,23",46,99,"0/1","CROCC","missense_variant","Missense","NM_014675.4","NM_014675.4:c.4081A>G","NP_055490.4:p.Thr1361Ala","NM_014675.4","27","67.3935","CROCC","NM_014675.4","mRNA","mRNA","+","NP_055490.4","NP_055490.4","9696","21299","615776","CCDS30616.1",null,"rootletin",null,"True","A/G","rs76576326","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","131","SNV","0.9337,0.06629","True","A/G","rs76576326","EX_TARGET",11781,"332","0.0662939",5008,300,16,"17","0.0244957",694,15,1,"243","0.183812",1322,215,14,"22","0.0224949",978,22,0,"49","0.0487078",1006,47,1,"1","0.000992064",1008,1,0,"False"]
["1:17292223","G/A",null,"PASS","0.410714","66,46",112,99,"0/1","CROCC","missense_variant","Missense","NM_014675.4","NM_014675.4:c.4411G>A","NP_055490.4:p.Gly1471Arg","NM_014675.4","28","72.8444","CROCC","NM_014675.4","mRNA","mRNA","+","NP_055490.4","NP_055490.4","9696","21299","615776","CCDS30616.1",null,"rootletin",null,"True","G/A","rs78888579","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","131","SNV","0.9625,0.03754","True","G/A","rs78888579","EX_TARGET",15645,"188","0.0375399",5008,182,3,"11","0.0158501",694,11,0,"104","0.0786687",1322,100,2,"22","0.0224949",978,22,0,"50","0.0497018",1006,48,1,"1","0.000992064",1008,1,0,"False"]
["1:17295764","A/G",null,"PASS","0.506329","39,40",79,99,"0/1","CROCC","missense_variant","Missense","NM_014675.4","NM_014675.4:c.5230A>G","NP_055490.4:p.Ser1744Gly","NM_014675.4","32","86.3726","CROCC","NM_014675.4","mRNA","mRNA","+","NP_055490.4","NP_055490.4","9696","21299","615776","CCDS30616.1",null,"rootletin",null,"True","A/G","rs56278097","Has 3D structure,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","129","SNV","0.906,0.09405","True","A/G","rs56278097","EX_TARGET",16898,"471","0.0940495",5008,353,59,"28","0.0403458",694,28,0,"379","0.286687",1322,263,58,"12","0.0122699",978,12,0,"51","0.0506958",1006,49,1,"1","0.000992064",1008,1,0,"False"]
["1:17299014","A/C",null,"PASS","0.77193","13,44",57,99,"0/1","CROCC","3_prime_UTR_variant","Other","NM_014675.4","NM_014675.4:c.*73A>C",null,"NM_014675.4","37",null,"CROCC","NM_014675.4","mRNA","mRNA","+","NP_055490.4","NP_055490.4","9696","21299","615776","CCDS30616.1",null,"rootletin",null,"True","A/C/G","rs6661019","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,Genotypes available,1000 Genome phase 3","116","SNV","0.4483,0.5511,0.000599","True","A/C","rs6661019","MULTI_ALLELIC",13472,"2760","0.551118",5008,2158,301,"364","0.524496",694,308,28,"727","0.549924",1322,553,87,"543","0.555215",978,435,54,"566","0.562624",1006,422,72,"560","0.555556",1008,440,60,"False"]
["1:17312743","C/T",null,"PASS","0.525","19,21",40,99,"0/1","ATP13A2","missense_variant","Missense","NM_022089.3","NM_022089.3:c.3516G>A","NP_071372.1:p.Pro1172=","NM_001141974.2,NM_022089.3,NM_001141973.2","27,29,29","92.4072,99.2097,99.2063","ATP13A2,ATP13A2,ATP13A2","NM_001141974.2,NM_022089.3,NM_001141973.2","mRNA,mRNA,mRNA","mRNA,mRNA,mRNA","-,-,-","NP_001135446.1,NP_071372.1,NP_001135445.1","NP_001135446.1,NP_071372.1,NP_001135445.1","23400,23400,23400","30213,30213,30213","610513,610513,610513","CCDS44072.1,CCDS175.1,CCDS44073.1",",,","probable cation-transporting ATPase 13A2 isoform 3,probable cation-transporting ATPase 13A2 isoform 1,probable cation-transporting ATPase 13A2 isoform 2",",,","True","C/T","rs3170740","RS orientation is reversed,Variant is Precious,Links exist to PubMed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Has synonymous A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3,Submitted from a locus-specific database","105","SNV","0.6687,0.3313","True","C/T","rs3170740","EX_TARGET",12200,"1659","0.33127",5008,979,340,"316","0.455331",694,172,72,"191","0.144478",1322,163,14,"391","0.399796",978,209,91,"513","0.50994",1006,237,138,"248","0.246032",1008,198,25,"False",{"$nulls":36},"C/T","128475","Benign","Benign","Benign (8)","(2 Stars) Criteria Provided, Multiple Submitters, No Conflicts","rs3170740","ATP13A2","23400","NC_000001.10:g.17312743C>T","NC_000001.11:g.16986248C>T","NM_022089.3:c.3516G>A","NP_071372.1:p.Pro1172=","RCV000116444,RCV000336632,RCV000675885,RCV000715153","not specified,Parkinson disease 9,not provided,History of neurodevelopmental disorder","Benign,Benign,Benign,Benign","(2 Stars) Criteria Provided, Multiple Submitters, No Conflicts,(1 Stars) Criteria Provided, Single Submitter,(1 Stars) Criteria Provided, Single Submitter,(1 Stars) Criteria Provided, Single Submitter","2016-02-13,2016-06-14,2017-04-20,2016-01-08"]
["1:17394374","C/A",null,"PASS","0.695652","7,16",23,99,"0/1","PADI2","3_prime_UTR_variant","Other","NM_007365.2","NM_007365.2:c.*1165G>T",null,"NM_007365.2","16",null,"PADI2","NM_007365.2","mRNA","mRNA","-","NP_031391.2","NP_031391.2","11240","18341","607935","CCDS177.1",null,"protein-arginine deiminase type-2",null,"True","C/A","rs12133334","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","120","SNV","0.5585,0.4415","True","C/A","rs12133334",null,19166,"2211","0.441494",5008,1163,524,"372","0.536023",694,180,96,"393","0.297277",1322,287,53,"455","0.465235",978,215,120,"594","0.590457",1006,242,176,"397","0.393849",1008,239,79,"False"]
["1:17394775","G/A",null,"PASS","0.528571","33,37",70,99,"0/1","PADI2","3_prime_UTR_variant","Other","NM_007365.2","NM_007365.2:c.*764C>T",null,"NM_007365.2","16",null,"PADI2","NM_007365.2","mRNA","mRNA","-","NP_031391.2","NP_031391.2","11240","18341","607935","CCDS177.1",null,"protein-arginine deiminase type-2",null,"True","G/A","rs2235927","RS orientation is reversed,Variant is Precious,Links exist to PubMed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","98","SNV","0.5723,0.4277","True","G/A","rs2235927",null,19213,"2142","0.427716",5008,1164,489,"268","0.386167",694,174,47,"536","0.405446",1322,330,103,"444","0.453988",978,212,116,"302","0.300199",1006,206,48,"592","0.587302",1008,242,175,"False"]
["1:17395281","T/C",null,"PASS","0.333333","6,3",9,87,"0/1","PADI2","3_prime_UTR_variant","Other","NM_007365.2","NM_007365.2:c.*258A>G",null,"NM_007365.2","16",null,"PADI2","NM_007365.2","mRNA","mRNA","-","NP_031391.2","NP_031391.2","11240","18341","607935","CCDS177.1",null,"protein-arginine deiminase type-2",null,"True","T/C","rs2235926","RS orientation is reversed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","98","SNV","0.5887,0.4113","True","T/C","rs2235926",null,19825,"2060","0.411342",5008,1142,459,"267","0.384726",694,173,47,"456","0.344932",1322,310,73,"444","0.453988",978,212,116,"301","0.299205",1006,205,48,"592","0.587302",1008,242,175,"False"]
["1:17395480","G/A",null,"PASS","0.421053","33,24",57,99,"0/1","PADI2","3_prime_UTR_variant","Other","NM_007365.2","NM_007365.2:c.*59C>T",null,"NM_007365.2","16",null,"PADI2","NM_007365.2","mRNA","mRNA","-","NP_031391.2","NP_031391.2","11240","18341","607935","CCDS177.1",null,"protein-arginine deiminase type-2",null,"True","G/A","rs2076599","RS orientation is reversed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","96","SNV","0.5585,0.4415","True","G/A","rs2076599",null,18933,"2211","0.441494",5008,1163,524,"372","0.536023",694,180,96,"393","0.297277",1322,287,53,"455","0.465235",978,215,120,"594","0.590457",1006,242,176,"397","0.393849",1008,239,79,"False"]
["1:17395521","G/A",null,"PASS","0.416667","49,35",84,99,"0/1","PADI2","3_prime_UTR_variant","Other","NM_007365.2","NM_007365.2:c.*18C>T",null,"NM_007365.2","16",null,"PADI2","NM_007365.2","mRNA","mRNA","-","NP_031391.2","NP_031391.2","11240","18341","607935","CCDS177.1",null,"protein-arginine deiminase type-2",null,"True","G/A","rs2076598","RS orientation is reversed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","96","SNV","0.5585,0.4415","True","G/A","rs2076598","EX_TARGET",19502,"2211","0.441494",5008,1163,524,"372","0.536023",694,180,96,"393","0.297277",1322,287,53,"455","0.465235",978,215,120,"594","0.590457",1006,242,176,"397","0.393849",1008,239,79,"False"]
["1:17405916","C/T",null,"PASS","0.51145","64,67",131,99,"0/1","PADI2","splice_region_variant","Other","NM_007365.2","NM_007365.2:c.1159-6G>A",null,"NM_007365.2","11",null,"PADI2","NM_007365.2","mRNA","mRNA","-","NP_031391.2","NP_031391.2","11240","18341","607935","CCDS177.1",null,"protein-arginine deiminase type-2",null,"True","C/T","rs2057095","RS orientation is reversed,Has SubmitterLinkOut,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","94","SNV","0.5659,0.4341","True","C/T","rs2057095","EX_TARGET",16209,"2174","0.434105",5008,1178,498,"365","0.525937",694,181,92,"388","0.293495",1322,288,50,"454","0.464213",978,228,113,"576","0.572565",1006,244,166,"391","0.387897",1008,237,77,"True","esv3585359","Gain","<CN2>","DUP_gs","EX_TARGET","17295","1","0.000199681","5008","1","0","1","0.00144092","694","1","0","0","0","1322","0","0","0","0","978","0","0","0","0","1006","0","0","0","0","1008","0","0"]
["1:17657534","G/A",null,"PASS","0.495652","58,57",115,99,"0/1","PADI4","missense_variant","Missense","NM_012387.2","NM_012387.2:c.163G>A","NP_036519.2:p.Gly55Ser","NM_012387.2","2","8.13253","PADI4","NM_012387.2","mRNA","mRNA","+","NP_036519.2","NP_036519.2","23569","18368","605347","CCDS180.1",null,"protein-arginine deiminase type-4",null,"True","G/A","rs11203366","Variant is Precious,Links exist to PubMed,Has 3D structure,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","120","SNV","0.4754,0.5246","True","G/A","rs11203366","EX_TARGET",19625,"2627","0.524561",5008,1221,703,"377","0.543228",694,181,98,"596","0.450832",1322,320,138,"507","0.518405",978,225,141,"579","0.575547",1006,257,161,"568","0.563492",1008,238,165,"False"]
["1:17657616","T/C",null,"PASS","0.449541","60,49",109,99,"0/1","PADI4","missense_variant","Missense","NM_012387.2","NM_012387.2:c.245T>C","NP_036519.2:p.Val82Ala","NM_012387.2","2","12.249","PADI4","NM_012387.2","mRNA","mRNA","+","NP_036519.2","NP_036519.2","23569","18368","605347","CCDS180.1",null,"protein-arginine deiminase type-4",null,"True","T/C","rs11203367","Variant is Precious,Links exist to PubMed,Has 3D structure,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","120","SNV","0.4667,0.5333","True","T/C","rs11203367","EX_TARGET",20194,"2671","0.533347",5008,1227,722,"380","0.54755",694,180,100,"634","0.479576",1322,326,154,"513","0.52454",978,223,145,"576","0.572565",1006,260,158,"568","0.563492",1008,238,165,"False"]
["1:17660499","G/C",null,"PASS","0.572581","53,71",124,99,"0/1","PADI4","missense_variant","Missense","NM_012387.2","NM_012387.2:c.335G>C","NP_036519.2:p.Gly112Ala","NM_012387.2","3","16.7671","PADI4","NM_012387.2","mRNA","mRNA","+","NP_036519.2","NP_036519.2","23569","18368","605347","CCDS180.1",null,"protein-arginine deiminase type-4",null,"True","G/C","rs874881","Variant is Precious,Links exist to PubMed,Has 3D structure,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","86","SNV","0.478,0.522","True","G/C","rs874881","EX_TARGET",17445,"2614","0.521965",5008,1228,693,"375","0.540346",694,179,98,"609","0.460666",1322,323,143,"510","0.521472",978,226,142,"557","0.553678",1006,263,147,"563","0.558532",1008,237,163,"False"]
["1:17698725","C/T",null,"PASS","0.445783","46,37",83,99,"0/1","PADI6","5_prime_UTR_variant","Other","NM_207421.4","NM_207421.4:c.-16C>T",null,"NM_207421.4","1",null,"PADI6","NM_207421.4","mRNA","mRNA","+","NP_997304.3","NP_997304.3","353238","20449","610363","CCDS72715.1",null,"protein-arginine deiminase type-6",null,"True","C/T","rs1204873","RS orientation is reversed,Has SubmitterLinkOut,In 5' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","87","SNV","0.7386,0.2614","True","C/T","rs1204873",null,15785,"1309","0.261382",5008,921,194,"109","0.157061",694,93,8,"496","0.375189",1322,312,92,"197","0.201431",978,147,25,"196","0.194831",1006,152,22,"311","0.308532",1008,217,47,"True","esv3585366","Gain","<CN2>","DUP_gs","EX_TARGET","16656","1","0.000199681","5008","1","0","0","0","694","0","0","0","0","1322","0","0","0","0","978","0","0","1","0.000994036","1006","1","0","0","0","1008","0","0"]
["1:17728119","A/G",null,"PASS","0.578947","8,11",19,99,"0/1","PADI6","3_prime_UTR_variant","Other","NM_207421.4","NM_207421.4:c.*185A>G",null,"NM_207421.4","17",null,"PADI6","NM_207421.4","mRNA","mRNA","+","NP_997304.3","NP_997304.3","353238","20449","610363","CCDS72715.1",null,"protein-arginine deiminase type-6",null,"True","A/G","rs2526830","RS orientation is reversed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","100","SNV","0.3658,0.6342","True","A/G","rs2526830",null,19529,"3176","0.634185",5008,1154,1011,"454","0.654179",694,146,154,"915","0.692133",1322,295,310,"646","0.660532",978,224,211,"614","0.610338",1006,240,187,"547","0.542659",1008,249,149,"False"]
["1:17733996","G/A",null,"PASS","0.522727","21,23",44,99,"0/1","RCC2","3_prime_UTR_variant","Other","NM_018715.3","NM_018715.3:c.*1590C>T",null,"NM_001136204.2,NM_018715.3","12,13",",","RCC2,RCC2","NM_001136204.2,NM_018715.3","mRNA,mRNA","mRNA,mRNA","-,-","NP_001129676.1,NP_061185.1","NP_001129676.1,NP_061185.1","55920,55920","30297,30297","609587,609587","CCDS181.1,CCDS181.1","18171,18171","protein RCC2,protein RCC2",",","True","G/A","rs3193024","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","105","SNV","0.8794,0.1206","True","G/A","rs3193024",null,18803,"604","0.120607",5008,486,59,"58","0.0835735",694,54,2,"11","0.00832073",1322,11,0,"146","0.149284",978,122,12,"97","0.0964215",1006,85,6,"292","0.289683",1008,214,39,"False"]
["1:17735266","G/A",null,"PASS","0.482759","15,14",29,99,"0/1","RCC2","3_prime_UTR_variant","Other","NM_018715.3","NM_018715.3:c.*320C>T",null,"NM_001136204.2,NM_018715.3","12,13",",","RCC2,RCC2","NM_001136204.2,NM_018715.3","mRNA,mRNA","mRNA,mRNA","-,-","NP_001129676.1,NP_061185.1","NP_001129676.1,NP_061185.1","55920,55920","30297,30297","609587,609587","CCDS181.1,CCDS181.1","18171,18171","protein RCC2,protein RCC2",",","True","G/A","rs750636","RS orientation is reversed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","86","SNV","0.6717,0.3283","True","G/A","rs750636",null,14524,"1644","0.328275",5008,1092,276,"256","0.368876",694,158,49,"472","0.357035",1322,338,67,"378","0.386503",978,224,77,"373","0.370775",1006,237,68,"165","0.16369",1008,135,15,"False"]
["1:19071752","T/C",null,"SOR3","0.666667","3,6",9,90,"0/1","PAX7","3_prime_UTR_variant","Other","NM_001135254.1","NM_001135254.1:c.*329T>C",null,"NM_001135254.1","9",null,"PAX7","NM_001135254.1","mRNA","mRNA","+","NP_001128726.1","NP_001128726.1","5081","8621","167410","CCDS44074.1",null,"paired box protein Pax-7 isoform 3",null,"True","T/C","rs1010113","RS orientation is reversed,Has SubmitterLinkOut,In 3' UTR,In 3' gene region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","86","SNV","0.3345,0.6655","True","T/C","rs1010113",null,18497,"3333","0.665535",5008,1013,1160,"404","0.582133",694,160,122,"1126","0.85174",1322,160,483,"663","0.677914",978,223,220,"615","0.611332",1006,231,192,"525","0.520833",1008,239,143,"False"]
["1:19166893","C/T",null,"PASS","0.352941","55,30",85,99,"0/1","TAS1R2","missense_variant","Missense","NM_152232.2","NM_152232.2:c.1720G>A","NP_689418.2:p.Ala574Thr","NM_152232.2","6","68.2143","TAS1R2","NM_152232.2","mRNA","mRNA","-","NP_689418.2","NP_689418.2","80834","14905","606226","CCDS187.1",null,"taste receptor type 1 member 2 precursor",null,"True","C/T","rs6662276","Variant is Precious,Links exist to PubMed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","116","SNV","0.9089,0.09105","True","C/T","rs6662276","EX_TARGET",18237,"456","0.0910543",5008,376,40,"19","0.0273775",694,17,1,"76","0.0574887",1322,66,5,"190","0.194274",978,146,22,"56","0.055666",1006,46,5,"115","0.114087",1008,101,7,"False"]
["1:19175846","T/C",null,"PASS","0.45614","31,26",57,99,"0/1","TAS1R2","missense_variant","Missense","NM_152232.2","NM_152232.2:c.1456A>G","NP_689418.2:p.Ile486Val","NM_152232.2","4","57.7381","TAS1R2","NM_152232.2","mRNA","mRNA","-","NP_689418.2","NP_689418.2","80834","14905","606226","CCDS187.1",null,"taste receptor type 1 member 2 precursor",null,"True","T/C","rs28374389","Variant is Precious,Links exist to PubMed,Has 3D structure,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","125","SNV","0.874,0.126","True","T/C","rs28374389","EX_TARGET",14893,"631","0.125998",5008,515,58,"170","0.244957",694,134,18,"181","0.136914",1322,155,13,"68","0.0695297",978,64,2,"210","0.208748",1006,160,25,"2","0.00198413",1008,2,0,"False"]
["1:19176005","C/T",null,"PASS","0.523077","31,34",65,99,"0/1","TAS1R2","missense_variant","Missense","NM_152232.2","NM_152232.2:c.1297G>A","NP_689418.2:p.Asp433Asn","NM_152232.2","4","51.4286","TAS1R2","NM_152232.2","mRNA","mRNA","-","NP_689418.2","NP_689418.2","80834","14905","606226","CCDS187.1",null,"taste receptor type 1 member 2 precursor",null,"True","C/T","rs114026861","Has 3D structure,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,Marker on high density genotype kit (50K+),1000 Genome phase 1,1000 Genome phase 3","132","SNV","0.9988,0.001198","True","C/T","rs114026861","EX_TARGET",17705,"6","0.00119808",5008,6,0,"0","0",694,0,0,"0","0",1322,0,0,"0","0",978,0,0,"6","0.00596421",1006,6,0,"0","0",1008,0,0,"False"]
["1:19186129","G/C",null,"PASS","0.456693","69,58",127,99,"0/1","TAS1R2","missense_variant","Missense","NM_152232.2","NM_152232.2:c.26C>G","NP_689418.2:p.Ser9Cys","NM_152232.2","1","0.992064","TAS1R2","NM_152232.2","mRNA","mRNA","-","NP_689418.2","NP_689418.2","80834","14905","606226","CCDS187.1",null,"taste receptor type 1 member 2 precursor",null,"True","G/C","rs9701796","Variant is Precious,Links exist to PubMed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","119","SNV","0.2021,0.7979","True","G/C","rs9701796","EX_TARGET",19772,"3996","0.797923",5008,780,1608,"584","0.841499",694,84,250,"1085","0.820726",1322,197,444,"758","0.775051",978,160,299,"788","0.7833",1006,178,305,"781","0.774802",1008,161,310,"False"]
["1:19199221","C/T",null,"PASS","0.576923","11,15",26,99,"0/1","ALDH4A1","3_prime_UTR_variant","Other","NM_003748.3","NM_003748.3:c.*118G>A",null,"NM_001161504.1,NM_001319218.1,NM_170726.2,NM_003748.3","15,14,15,15",",,,","ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1","NM_001161504.1,NM_001319218.1,NM_170726.2,NM_003748.3","mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA","-,-,-,-","NP_001154976.1,NP_001306147.1,NP_733844.1,NP_003739.2","NP_001154976.1,NP_001306147.1,NP_733844.1,NP_003739.2","8659,8659,8659,8659","406,406,406,406","606811,606811,606811,606811","CCDS53272.1,CCDS81273.1,CCDS188.1,CCDS188.1","06009,06009,06009,06009","delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial isoform b,delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial isoform c precursor,delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial isoform a precursor,delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial isoform a precursor",",,,","True","C/T","rs11740","RS orientation is reversed,Variant is Precious,Links exist to PubMed,Has SubmitterLinkOut,In 3' UTR,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","52","SNV","0.5286,0.4714","True","C/T","rs11740",null,19464,"2361","0.471446",5008,1043,659,"383","0.551873",694,163,110,"262","0.198185",1322,216,23,"600","0.613497",978,212,194,"454","0.451292",1006,240,107,"662","0.656746",1008,212,225,"False",{"$nulls":36},"C/T","294359","Likely Benign","Likely Benign","Likely benign (1)","(1 Stars) Criteria Provided, Single Submitter","rs11740","ALDH4A1","8659","NC_000001.10:g.19199221C>T","NC_000001.11:g.18872727C>T","NM_003748.3:c.*118G>A",null,"RCV000402241","Hyperprolinemia","Likely Benign","(1 Stars) Criteria Provided, Single Submitter","2016-06-14"]
["1:19201919","T/C",null,"PASS","0.446281","67,54",121,99,"0/1","ALDH4A1","missense_variant","Missense","NM_003748.3","NM_003748.3:c.1417A>G","NP_003739.2:p.Thr473Ala","NM_001161504.1,NM_001319218.1,NM_170726.2,NM_003748.3","13,12,13,13","81.746,82.0663,83.6879,83.6879","ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1","NM_001161504.1,NM_001319218.1,NM_170726.2,NM_003748.3","mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA","-,-,-,-","NP_001154976.1,NP_001306147.1,NP_733844.1,NP_003739.2","NP_001154976.1,NP_001306147.1,NP_733844.1,NP_003739.2","8659,8659,8659,8659","406,406,406,406","606811,606811,606811,606811","CCDS53272.1,CCDS81273.1,CCDS188.1,CCDS188.1","06009,06009,06009,06009","delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial isoform b,delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial isoform c precursor,delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial isoform a precursor,delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial isoform a precursor",",,,","True","T/C","rs6695033","Variant is Precious,Has 3D structure,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3,Microattribution/third-party annotation(TPA:GWAS,PAGE)","116","SNV","0.9345,0.0655","True","T/C","rs6695033","EX_TARGET",18822,"328","0.0654952",5008,276,26,"25","0.0360231",694,25,0,"258","0.195159",1322,208,25,"17","0.0173824",978,15,1,"28","0.027833",1006,28,0,"0","0",1008,0,0,"False",{"$nulls":36},"T/C","294366","Likely Benign","Benign/Likely Benign","Benign (1),Likely benign (1)","(2 Stars) Criteria Provided, Multiple Submitters, No Conflicts","rs6695033","ALDH4A1","8659","NC_000001.10:g.19201919T>C","NC_000001.11:g.18875425T>C","NM_003748.3:c.1417A>G","NP_003739.2:p.Thr473Ala","RCV000324874,RCV000549340","Hyperprolinemia,Deficiency of pyrroline-5-carboxylate reductase","Likely Benign,Benign","(1 Stars) Criteria Provided, Single Submitter,(1 Stars) Criteria Provided, Single Submitter","2016-06-14,2017-04-28"]
["1:19201928","C/T",null,"PASS","0.557252","58,73",131,99,"0/1","ALDH4A1","missense_variant","Missense","NM_003748.3","NM_003748.3:c.1408G>A","NP_003739.2:p.Val470Ile","NM_001161504.1,NM_001319218.1,NM_170726.2,NM_003748.3","13,12,13,13","81.1508,81.4815,83.156,83.156","ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1","NM_001161504.1,NM_001319218.1,NM_170726.2,NM_003748.3","mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA","-,-,-,-","NP_001154976.1,NP_001306147.1,NP_733844.1,NP_003739.2","NP_001154976.1,NP_001306147.1,NP_733844.1,NP_003739.2","8659,8659,8659,8659","406,406,406,406","606811,606811,606811,606811","CCDS53272.1,CCDS81273.1,CCDS188.1,CCDS188.1","06009,06009,06009,06009","delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial isoform b,delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial isoform c precursor,delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial isoform a precursor,delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial isoform a precursor",",,,","True","C/T","rs2230709","RS orientation is reversed,Variant is Precious,Provisional Third Party Annotation(TPA),Links exist to PubMed,Has 3D structure,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","98","SNV","0.9521,0.04792","True","C/T","rs2230709","EX_TARGET",19146,"240","0.0479233",5008,218,11,"47","0.0677233",694,45,1,"28","0.02118",1322,26,1,"24","0.0245399",978,24,0,"140","0.139165",1006,122,9,"1","0.000992064",1008,1,0,"False",{"$nulls":36},"C/T","294367","Likely Benign","Likely Benign","Likely benign (1)","(1 Stars) Criteria Provided, Single Submitter","rs2230709","ALDH4A1","8659","NC_000001.10:g.19201928C>T","NC_000001.11:g.18875434C>T","NM_003748.3:c.1408G>A","NP_003739.2:p.Val470Ile","RCV000379383","Hyperprolinemia","Likely Benign","(1 Stars) Criteria Provided, Single Submitter","2016-06-14"]
["1:19468217","C/G",null,"PASS","0.492537","34,33",67,99,"0/1","UBR4","missense_variant","Missense","NM_020765.2","NM_020765.2:c.8234G>C","NP_065816.2:p.Gly2745Ala","NM_020765.2","56","52.9385","UBR4","NM_020765.2","mRNA","mRNA","-","NP_065816.2","NP_065816.2","23352","30313","609890","CCDS189.1",null,"E3 ubiquitin-protein ligase UBR4",null,"True","C/G","rs41273195","Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,Marker on high density genotype kit (50K+),1000 Genome phase 1,1000 Genome phase 3","127","SNV","0.9992,0.0007987","True","C/G","rs41273195","EX_TARGET",22954,"4","0.000798722",5008,4,0,"1","0.00144092",694,1,0,"0","0",1322,0,0,"0","0",978,0,0,"3","0.00298211",1006,3,0,"0","0",1008,0,0,"False"]
["1:19499560","T/C",null,"PASS","0.50505","49,50",99,99,"0/1","UBR4","missense_variant","Missense","NM_020765.2","NM_020765.2:c.3319A>G","NP_065816.2:p.Thr1107Ala","NM_020765.2","25","21.3349","UBR4","NM_020765.2","mRNA","mRNA","-","NP_065816.2","NP_065816.2","23352","30313","609890","CCDS189.1",null,"E3 ubiquitin-protein ligase UBR4",null,"True","T/C","rs16862578","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","123","SNV","0.8614,0.1386","True","T/C","rs16862578","EX_TARGET",21057,"694","0.138578",5008,540,77,"116","0.167147",694,104,6,"372","0.281392",1322,254,59,"30","0.0306748",978,28,1,"165","0.164016",1006,143,11,"11","0.0109127",1008,11,0,"False"]
["1:19565344","C/G",null,"PASS","0.543689","47,56",103,99,"0/1","EMC1","missense_variant","Missense","NM_015047.2","NM_015047.2:c.1034G>C","NP_055862.1:p.Ser345Thr","NM_001271427.1,NM_001271429.1,NM_015047.2,NM_001271428.1","10,9,10,10","34.5754,33.1619,34.6412,34.6761","EMC1,EMC1,EMC1,EMC1","NM_001271427.1,NM_001271429.1,NM_015047.2,NM_001271428.1","mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA","-,-,-,-","NP_001258356.1,NP_001258358.1,NP_055862.1,NP_001258357.1","NP_001258356.1,NP_001258358.1,NP_055862.1,NP_001258357.1","23065,23065,23065,23065","28957,28957,28957,28957","616846,616846,616846,616846","CCDS59191.1,CCDS59190.1,CCDS190.1,","08306,08306,08306,08306","ER membrane protein complex subunit 1 isoform 2 precursor,ER membrane protein complex subunit 1 isoform 4 precursor,ER membrane protein complex subunit 1 isoform 1 precursor,ER membrane protein complex subunit 1 isoform 3 precursor",",,,","True","C/G","rs709683","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","86","SNV","0.4277,0.5723","True","C/G","rs709683","EX_TARGET",18872,"2866","0.572284",5008,1108,879,"354","0.510086",694,176,89,"967","0.731467",1322,263,352,"450","0.460123",978,248,101,"349","0.346918",1006,233,58,"746","0.740079",1008,188,279,"False"]
["1:19568972","A/G",null,"PASS","0.413043","54,38",92,99,"0/1","EMC1","splice_region_variant","Other","NM_015047.2","NM_015047.2:c.381-5T>C",null,"NM_001271427.1,NM_001271429.1,NM_015047.2,NM_001271428.1","5,4,5,5",",,,","EMC1,EMC1,EMC1,EMC1","NM_001271427.1,NM_001271429.1,NM_015047.2,NM_001271428.1","mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA","-,-,-,-","NP_001258356.1,NP_001258358.1,NP_055862.1,NP_001258357.1","NP_001258356.1,NP_001258358.1,NP_055862.1,NP_001258357.1","23065,23065,23065,23065","28957,28957,28957,28957","616846,616846,616846,616846","CCDS59191.1,CCDS59190.1,CCDS190.1,","08306,08306,08306,08306","ER membrane protein complex subunit 1 isoform 2 precursor,ER membrane protein complex subunit 1 isoform 4 precursor,ER membrane protein complex subunit 1 isoform 1 precursor,ER membrane protein complex subunit 1 isoform 3 precursor",",,,","True","A/G/T","rs710865","RS orientation is reversed,Variant is Precious,Links exist to PubMed,Has SubmitterLinkOut,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3,Microattribution/third-party annotation(TPA:GWAS,PAGE)","86","SNV","0.4181,0.5819,","True","A/G","rs710865","EX_TARGET",22613,"2914","0.581869",5008,1078,918,"355","0.511527",694,173,91,"1008","0.762481",1322,240,384,"452","0.462168",978,246,103,"353","0.350895",1006,231,61,"746","0.740079",1008,188,279,"False"]
["1:19578053","C/G",null,"PASS","0.424242","38,28",66,99,"0/1","EMC1","5_prime_UTR_variant","Other","NM_015047.2","NM_015047.2:c.-50G>C",null,"NM_001271427.1,NM_001271429.1,NM_015047.2,NM_001271428.1","1,1,1,1",",,,","EMC1,EMC1,EMC1,EMC1","NM_001271427.1,NM_001271429.1,NM_015047.2,NM_001271428.1","mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA","-,-,-,-","NP_001258356.1,NP_001258358.1,NP_055862.1,NP_001258357.1","NP_001258356.1,NP_001258358.1,NP_055862.1,NP_001258357.1","23065,23065,23065,23065","28957,28957,28957,28957","616846,616846,616846,616846","CCDS59191.1,CCDS59190.1,CCDS190.1,","08306,08306,08306,08306","ER membrane protein complex subunit 1 isoform 2 precursor,ER membrane protein complex subunit 1 isoform 4 precursor,ER membrane protein complex subunit 1 isoform 1 precursor,ER membrane protein complex subunit 1 isoform 3 precursor",",,,","True","C/G","rs6680255","Has SubmitterLinkOut,In 5' UTR,In 5' gene region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","116","SNV","0.8576,0.1424","True","C/G","rs6680255",null,13041,"713","0.142372",5008,485,114,"64","0.092219",694,58,3,"538","0.406959",1322,328,105,"10","0.0102249",978,10,0,"101","0.100398",1006,89,6,"0","0",1008,0,0,"False"]
["1:19578192","G/A",null,"PASS","0.826087","4,19",23,87,"0/1","MRTO4","5_prime_UTR_variant","Other","NM_016183.3","NM_016183.3:c.-138G>A",null,"NM_016183.3","1",null,"MRTO4","NM_016183.3","mRNA","mRNA","+","NP_057267.2","NP_057267.2","51154","18477",null,"CCDS191.1","12725","mRNA turnover protein 4 homolog",null,"True","G/A","rs2294942","RS orientation is reversed,Has SubmitterLinkOut,In 5' UTR,In 5' gene region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","100","SNV","0.3546,0.6454","True","G/A","rs2294942",null,13130,"3232","0.645367",5008,1058,1087,"485","0.698847",694,147,169,"555","0.419818",1322,337,109,"727","0.743354",978,173,277,"632","0.628231",1006,250,191,"833","0.826389",1008,151,341,"False"]
["1:19612477","C/T",null,"PASS","0.519231","50,54",104,99,"0/1","AKR7A3","missense_variant","Missense","NM_012067.2","NM_012067.2:c.412G>A","NP_036199.2:p.Val138Met","NM_012067.2","3","41.2651","AKR7A3","NM_012067.2","mRNA","mRNA","-","NP_036199.2","NP_036199.2","22977","390","608477","CCDS193.1",null,"aflatoxin B1 aldehyde reductase member 3",null,"True","C/T","rs2231198","RS orientation is reversed,Has 3D structure,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","123","SNV","0.5367,0.4633","True","C/T","rs2231198","EX_TARGET",19169,"2320","0.463259",5008,1144,588,"377","0.543228",694,167,105,"482","0.364599",1322,282,100,"381","0.389571",978,237,72,"384","0.38171",1006,242,71,"696","0.690476",1008,216,240,"True","esv3585392,esv3585393","Loss,Loss","<CN0>,<CN0>","DEL_union,DEL_union","EX_TARGET,EX_TARGET","17947,19614","59,52","0.0117812,0.0103834","5008,5008","57,50","1,1","1,0","0.00144092,0","694,694","1,0","0,0","57,52","0.0431165,0.0393343","1322,1322","55,50","1,1","0,0","0,0","978,978","0,0","0,0","0,0","0,0","1006,1006","0,0","0,0","1,0","0.000992064,0","1008,1008","1,0","0,0"]
["1:19635011","C/T",null,"PASS","0.458333","52,44",96,99,"0/1","AKR7A2","missense_variant","Missense","NM_003689.3","NM_003689.3:c.424G>A","NP_003680.2:p.Ala142Thr","NM_003689.3,NM_001320979.1","2,2","39.1667,43.3846","AKR7A2,AKR7A2","NM_003689.3,NM_001320979.1","mRNA,mRNA","mRNA,mRNA","-,-","NP_003680.2,NP_001307908.1","NP_003680.2,NP_001307908.1","8574,8574","389,389","603418,603418","CCDS194.1,",",","aflatoxin B1 aldehyde reductase member 2 isoform 1,aflatoxin B1 aldehyde reductase member 2 isoform 2",",","True","C/T","rs1043657","RS orientation is reversed,Has 3D structure,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","86","SNV","0.9625,0.03754","True","C/T","rs1043657","EX_TARGET",18086,"188","0.0375399",5008,176,6,"42","0.0605187",694,40,1,"34","0.0257186",1322,34,0,"11","0.0112474",978,11,0,"98","0.0974155",1006,88,5,"3","0.00297619",1008,3,0,"False"]
["1:19652874","G/A",null,"PASS","0.488095","43,41",84,99,"0/1","PQLC2","missense_variant","Missense","NM_017765.2","NM_017765.2:c.518G>A","NP_060235.2:p.Gly173Asp","NM_001040125.1,NM_017765.2,NM_001040126.1,NM_001287531.1","5,6,5,5","59.0183,59.0183,47.2834,33.8858","PQLC2,PQLC2,PQLC2,PQLC2","NM_001040125.1,NM_017765.2,NM_001040126.1,NM_001287531.1","mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA","+,+,+,+","NP_001035214.1,NP_060235.2,NP_001035215.1,NP_001274460.1","NP_001035214.1,NP_060235.2,NP_001035215.1,NP_001274460.1","54896,54896,54896,54896","26001,26001,26001,26001","614760,614760,614760,614760","CCDS195.2,CCDS195.2,CCDS30618.1,",",,,","lysosomal amino acid transporter 1 homolog isoform 1,lysosomal amino acid transporter 1 homolog isoform 1,lysosomal amino acid transporter 1 homolog isoform 2,lysosomal amino acid transporter 1 homolog isoform 3",",,,","True","G/A","rs41264079","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","127","SNV","0.9505,0.04952","True","G/A","rs41264079","EX_TARGET",15617,"248","0.0495208",5008,226,11,"31","0.0446686",694,29,1,"8","0.00605144",1322,8,0,"75","0.0766871",978,67,4,"125","0.124254",1006,113,6,"9","0.00892857",1008,9,0,"False"]
["1:19984346","A/G",null,"PASS","0.417722","46,33",79,99,"0/1","MINOS1-NBL1,NBL1","3_prime_UTR_variant","Other","NM_001204088.1,NM_182744.3","NM_001204088.1:c.*724A>G,NM_182744.3:c.*724A>G",",","NM_001204089.1,NM_001204088.1,NM_182744.3,NM_001278164.1,NM_001278165.1,NM_001204084.2,NM_005380.7,NM_001204085.1,NM_001204086.2,NM_001278166.1","4,5,4,4,4,4,4,4,4,4",",,,,,,,,,","MINOS1-NBL1,MINOS1-NBL1,NBL1,NBL1,NBL1,NBL1,NBL1,NBL1,NBL1,NBL1","NM_001204089.1,NM_001204088.1,NM_182744.3,NM_001278164.1,NM_001278165.1,NM_001204084.2,NM_005380.7,NM_001204085.1,NM_001204086.2,NM_001278166.1","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","+,+,+,+,+,+,+,+,+,+","NP_001191018.1,NP_001191017.1,NP_877421.2,NP_001265093.1,NP_001265094.1,NP_001191013.1,NP_005371.2,NP_001191014.1,NP_001191015.1,NP_001265095.1","NP_001191018.1,NP_001191017.1,NP_877421.2,NP_001265093.1,NP_001265094.1,NP_001191013.1,NP_005371.2,NP_001191014.1,NP_001191015.1,NP_001265095.1","100532736,100532736,4681,4681,4681,4681,4681,4681,4681,4681","48338,48338,7650,7650,7650,7650,7650,7650,7650,7650",",,600613,600613,600613,600613,600613,600613,600613,600613","CCDS196.2,,CCDS41278.1,CCDS196.2,CCDS196.2,CCDS196.2,CCDS196.2,CCDS196.2,CCDS72720.1,CCDS196.2",",,,,,,,,,","C1orf151-NBL1 read-through protein isoform b precursor,C1orf151-NBL1 read-through protein isoform a,neuroblastoma suppressor of tumorigenicity 1 isoform 1,neuroblastoma suppressor of tumorigenicity 1 isoform 2 precursor,neuroblastoma suppressor of tumorigenicity 1 isoform 2 precursor,neuroblastoma suppressor of tumorigenicity 1 isoform 2 precursor,neuroblastoma suppressor of tumorigenicity 1 isoform 2 precursor,neuroblastoma suppressor of tumorigenicity 1 isoform 2 precursor,neuroblastoma suppressor of tumorigenicity 1 isoform 3,neuroblastoma suppressor of tumorigenicity 1 isoform 2 precursor",",,,,,,,,,","True","A/G","rs1049959","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","86","SNV","0.8239,0.1761","True","A/G","rs1049959",null,15741,"882","0.176118",5008,694,94,"81","0.116715",694,75,3,"287","0.217095",1322,209,39,"188","0.192229",978,150,19,"114","0.11332",1006,104,5,"212","0.210317",1008,156,28,"False"]
["1:19992066","T/C",null,"PASS","0.606061","13,20",33,99,"0/1","HTR6","5_prime_UTR_variant","Other","NM_000871.2","NM_000871.2:c.-181T>C",null,"NM_000871.2","1",null,"HTR6","NM_000871.2","mRNA","mRNA","+","NP_000862.1","NP_000862.1","3362","5301","601109","CCDS197.1","03066","5-hydroxytryptamine receptor 6",null,"True","T/C","rs10917509","Has SubmitterLinkOut,In 5' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","120","SNV","0.5617,0.4383","True","T/C","rs10917509",null,11483,"2195","0.438299",5008,1065,565,"361","0.520173",694,181,90,"512","0.387292",1322,298,107,"482","0.492843",978,232,125,"659","0.65507",1006,217,221,"181","0.179563",1008,137,22,"False"]
["1:20020994","C/T",null,"PASS","0.534351","61,70",131,99,"0/1","TMCO4","missense_variant","Missense","NM_181719.4","NM_181719.4:c.1433G>A","NP_859070.3:p.Arg478His","NM_181719.4","15","75.1706","TMCO4","NM_181719.4","mRNA","mRNA","-","NP_859070.3","NP_859070.3","255104","27393",null,"CCDS198.1",null,"transmembrane and coiled-coil domain-containing protein 4",null,"True","C/T","rs4515815","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","120","SNV","0.5699,0.4301","True","C/T","rs4515815","EX_TARGET",19125,"2154","0.430112",5008,1002,576,"374","0.538905",694,166,104,"245","0.185325",1322,191,27,"576","0.588957",978,210,183,"673","0.668986",1006,221,226,"286","0.28373",1008,214,36,"False"]
["1:20301927","A/T",null,"PASS","0.368421","12,7",19,99,"0/1","PLA2G2A","3_prime_UTR_variant","Other","NM_000300.3","NM_000300.3:c.*267T>A",null,"NM_001161729.1,NM_001161727.1,NM_000300.3,NM_001161728.1","5,6,6,5",",,,","PLA2G2A,PLA2G2A,PLA2G2A,PLA2G2A","NM_001161729.1,NM_001161727.1,NM_000300.3,NM_001161728.1","mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA","-,-,-,-","NP_001155201.1,NP_001155199.1,NP_000291.1,NP_001155200.1","NP_001155201.1,NP_001155199.1,NP_000291.1,NP_001155200.1","5320,5320,5320,5320","9031,9031,9031,9031","172411,172411,172411,172411","CCDS201.1,CCDS201.1,CCDS201.1,CCDS201.1","01397,01397,01397,01397","phospholipase A2, membrane associated precursor,phospholipase A2, membrane associated precursor,phospholipase A2, membrane associated precursor,phospholipase A2, membrane associated precursor",",,,","True","A/T","rs876018","Variant is Precious,Links exist to PubMed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","86","SNV","0.8185,0.1815","True","A/T","rs876018",null,19783,"909","0.18151",5008,711,99,"169","0.243516",694,123,23,"358","0.270802",1322,258,50,"112","0.114519",978,106,3,"160","0.159046",1006,136,12,"110","0.109127",1008,88,11,"False"]
["1:20301964","G/A",null,"PASS","0.59375","13,19",32,99,"0/1","PLA2G2A","3_prime_UTR_variant","Other","NM_000300.3","NM_000300.3:c.*230C>T",null,"NM_001161729.1,NM_001161727.1,NM_000300.3,NM_001161728.1","5,6,6,5",",,,","PLA2G2A,PLA2G2A,PLA2G2A,PLA2G2A","NM_001161729.1,NM_001161727.1,NM_000300.3,NM_001161728.1","mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA","-,-,-,-","NP_001155201.1,NP_001155199.1,NP_000291.1,NP_001155200.1","NP_001155201.1,NP_001155199.1,NP_000291.1,NP_001155200.1","5320,5320,5320,5320","9031,9031,9031,9031","172411,172411,172411,172411","CCDS201.1,CCDS201.1,CCDS201.1,CCDS201.1","01397,01397,01397,01397","phospholipase A2, membrane associated precursor,phospholipase A2, membrane associated precursor,phospholipase A2, membrane associated precursor,phospholipase A2, membrane associated precursor",",,,","True","G/A","rs11677","RS orientation is reversed,Variant is Precious,Links exist to PubMed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","52","SNV","0.8786,0.1214","True","G/A","rs11677",null,18987,"608","0.121406",5008,508,50,"114","0.164265",694,100,7,"6","0.00453858",1322,6,0,"198","0.202454",978,154,22,"108","0.107356",1006,102,3,"182","0.180556",1008,146,18,"False"]
["1:20519316","G/C",null,"PASS","0.505882","42,43",85,99,"0/1","UBXN10","3_prime_UTR_variant","Other","NM_152376.4","NM_152376.4:c.*1419G>C",null,"NM_152376.4","2",null,"UBXN10","NM_152376.4","mRNA","mRNA","+","NP_689589.1","NP_689589.1","127733","26354","616783","CCDS205.1","18255","UBX domain-containing protein 10",null,"True","G/C","rs61768687","In 3' UTR,Is Assembly specific,Is Validated,1000 Genome phase 1,1000 Genome phase 3","129","SNV","0.9994,0.000599","False","G/C","rs61768687",null,20341,"3","0.000599042",5008,3,0,"0","0",694,0,0,"1","0.00075643",1322,1,0,"0","0",978,0,0,"2","0.00198807",1006,2,0,"0","0",1008,0,0,"False"]
["1:20519808","G/A",null,"PASS","0.536723","82,95",177,99,"0/1","UBXN10","3_prime_UTR_variant","Other","NM_152376.4","NM_152376.4:c.*1911G>A",null,"NM_152376.4","2",null,"UBXN10","NM_152376.4","mRNA","mRNA","+","NP_689589.1","NP_689589.1","127733","26354","616783","CCDS205.1","18255","UBX domain-containing protein 10",null,"True","G/A","rs1061588","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","86","SNV","0.6494,0.3506","True","G/A","rs1061588",null,19441,"1756","0.350639",5008,1090,333,"196","0.282421",694,142,27,"573","0.433434",1322,325,124,"387","0.395706",978,241,73,"188","0.186879",1006,146,21,"412","0.40873",1008,236,88,"False"]
["1:20520732","T/C",null,"PASS","0.604839","49,75",124,99,"0/1","UBXN10","3_prime_UTR_variant","Other","NM_152376.4","NM_152376.4:c.*2835T>C",null,"NM_152376.4","2",null,"UBXN10","NM_152376.4","mRNA","mRNA","+","NP_689589.1","NP_689589.1","127733","26354","616783","CCDS205.1","18255","UBX domain-containing protein 10",null,"True","T/C/G","rs7542020","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","116","SNV","0.5737,0.4263,","True","T/C","rs7542020",null,21953,"2135","0.426318",5008,1131,502,"231","0.332853",694,163,34,"800","0.605144",1322,318,241,"463","0.473415",978,249,107,"225","0.223658",1006,163,31,"416","0.412698",1008,238,89,"False"]
["1:20520732","T/C/G",null,"PASS","0.604839,0","49,75,0",124,99,"0/1","UBXN10","3_prime_UTR_variant","Other","NM_152376.4","NM_152376.4:c.*2835T>C",null,"NM_152376.4,NM_152376.4","2,2",",","UBXN10,UBXN10","NM_152376.4,NM_152376.4","mRNA,mRNA","mRNA,mRNA","+,+","NP_689589.1,NP_689589.1","NP_689589.1,NP_689589.1","127733,127733","26354,26354","616783,616783","CCDS205.1,CCDS205.1","18255,18255","UBX domain-containing protein 10,UBX domain-containing protein 10",",","True","T/C/G","rs7542020","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","116","SNV","0.5737,0.4263,","True",{"$nulls":34},"False"]
["1:20826685","T/A",null,"PASS","0.666667","1,2",3,70,"0/1","MUL1","3_prime_UTR_variant","Other","NM_024544.2","NM_024544.2:c.*498A>T",null,"NM_024544.2","4",null,"MUL1","NM_024544.2","mRNA","mRNA","-","NP_078820.2","NP_078820.2","79594","25762","612037","CCDS208.1",null,"mitochondrial ubiquitin ligase activator of NFKB 1",null,"True","T/A","rs582984","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","83","SNV","0.8468,0.1532","True","T/A","rs582984",null,18433,"767","0.153155",5008,593,87,"108","0.15562",694,88,10,"310","0.234493",1322,228,41,"105","0.107362",978,93,6,"244","0.242545",1006,184,30,"0","0",1008,0,0,"False"]
["1:20826686","C/A",null,"PASS","0.666667","1,2",3,70,"0/1","MUL1","3_prime_UTR_variant","Other","NM_024544.2","NM_024544.2:c.*497G>T",null,"NM_024544.2","4",null,"MUL1","NM_024544.2","mRNA","mRNA","-","NP_078820.2","NP_078820.2","79594","25762","612037","CCDS208.1",null,"mitochondrial ubiquitin ligase activator of NFKB 1",null,"True","C/A","rs583346","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","86","SNV","0.8468,0.1532","True","C/A","rs583346",null,18427,"767","0.153155",5008,593,87,"108","0.15562",694,88,10,"310","0.234493",1322,228,41,"105","0.107362",978,93,6,"244","0.242545",1006,184,30,"0","0",1008,0,0,"False"]
["1:20826910","G/A",null,"PASS","0.285714","5,2",7,60,"0/1","MUL1","3_prime_UTR_variant","Other","NM_024544.2","NM_024544.2:c.*273C>T",null,"NM_024544.2","4",null,"MUL1","NM_024544.2","mRNA","mRNA","-","NP_078820.2","NP_078820.2","79594","25762","612037","CCDS208.1",null,"mitochondrial ubiquitin ligase activator of NFKB 1",null,"True","G/A","rs529974","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","83","SNV","0.7792,0.2208","True","G/A","rs529974",null,19639,"1106","0.220847",5008,786,160,"141","0.20317",694,109,16,"316","0.239032",1322,228,44,"197","0.201431",978,149,24,"360","0.357853",1006,222,69,"92","0.0912698",1008,78,7,"False"]
["1:20829761","A/C",null,"PASS","0.484211","49,46",95,99,"0/1","MUL1","missense_variant","Missense","NM_024544.2","NM_024544.2:c.162T>G","NP_078820.2:p.Ile54Met","NM_024544.2","2","15.203","MUL1","NM_024544.2","mRNA","mRNA","-","NP_078820.2","NP_078820.2","79594","25762","612037","CCDS208.1",null,"mitochondrial ubiquitin ligase activator of NFKB 1",null,"True","A/C","rs150868809","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,In 5' UTR,Is Assembly specific,Is Validated,Marker on high density genotype kit (50K+),1000 Genome phase 1,1000 Genome phase 3","134","SNV","0.992,0.007987","True","A/C","rs150868809","EX_TARGET",17687,"40","0.00798722",5008,40,0,"10","0.0144092",694,10,0,"1","0.00075643",1322,1,0,"11","0.0112474",978,11,0,"18","0.0178926",1006,18,0,"0","0",1008,0,0,"False"]
["1:20879156","A/G",null,"PASS","0.666667","1,2",3,30,"0/1","FAM43B","5_prime_UTR_variant","Other","NM_207334.2","NM_207334.2:c.-311A>G",null,"NM_207334.2","1",null,"FAM43B","NM_207334.2","mRNA","mRNA","+","NP_997217.1","NP_997217.1","163933","31791",null,"CCDS209.1","16881","protein FAM43B",null,"True","A/G","rs111802442","Has SubmitterLinkOut,In 5' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","132","SNV","0.754,0.246","True","A/G","rs111802442",null,10333,"1232","0.246006",5008,882,175,"128","0.184438",694,94,17,"374","0.282905",1322,258,58,"297","0.303681",978,185,56,"189","0.187873",1006,149,20,"244","0.242063",1008,196,24,"False"]
["1:20880905","A/G",null,"PASS","0.430556","41,31",72,99,"0/1","FAM43B","3_prime_UTR_variant","Other","NM_207334.2","NM_207334.2:c.*449A>G",null,"NM_207334.2","1",null,"FAM43B","NM_207334.2","mRNA","mRNA","+","NP_997217.1","NP_997217.1","163933","31791",null,"CCDS209.1","16881","protein FAM43B",null,"True","A/G","rs74058407","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","130","SNV","0.7542,0.2458","True","A/G","rs74058407",null,14441,"1231","0.245807",5008,881,175,"128","0.184438",694,94,17,"375","0.283661",1322,259,58,"298","0.304703",978,186,56,"189","0.187873",1006,149,20,"241","0.239087",1008,193,24,"False"]
["1:20881309","T/A",null,"PASS","0.476923","68,62",130,99,"0/1","FAM43B","3_prime_UTR_variant","Other","NM_207334.2","NM_207334.2:c.*853T>A",null,"NM_207334.2","1",null,"FAM43B","NM_207334.2","mRNA","mRNA","+","NP_997217.1","NP_997217.1","163933","31791",null,"CCDS209.1","16881","protein FAM43B",null,"True","T/A","rs3795509","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","107","SNV","0.7542,0.2458","True","T/A","rs3795509",null,18045,"1231","0.245807",5008,883,174,"128","0.184438",694,94,17,"375","0.283661",1322,261,57,"298","0.304703",978,186,56,"189","0.187873",1006,149,20,"241","0.239087",1008,193,24,"False"]
["1:20915531","A/G",null,"PASS","0.492308","66,64",130,99,"0/1","CDA","5_prime_UTR_variant","Other","NM_001785.2","NM_001785.2:c.-92A>G",null,"NM_001785.2","1",null,"CDA","NM_001785.2","mRNA","mRNA","+","NP_001776.1","NP_001776.1","978","1712","123920","CCDS210.1","11744","cytidine deaminase",null,"True","A/G","rs602950","RS orientation is reversed,Provisional Third Party Annotation(TPA),Has SubmitterLinkOut,In 5' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","83","SNV","0.8113,0.1887","True","A/G","rs602950",null,17846,"945","0.188698",5008,729,108,"214","0.308357",694,160,27,"86","0.0650529",1322,84,1,"217","0.221881",978,161,28,"305","0.303181",1006,213,46,"123","0.122024",1008,111,6,"False"]
["1:20915701","A/C",null,"PASS","0.439655","65,51",116,99,"0/1","CDA","missense_variant","Missense","NM_001785.2","NM_001785.2:c.79A>C","NP_001776.1:p.Lys27Gln","NM_001785.2","1","17.6871","CDA","NM_001785.2","mRNA","mRNA","+","NP_001776.1","NP_001776.1","978","1712","123920","CCDS210.1","11744","cytidine deaminase",null,"True","A/C","rs2072671","Variant is Precious,Provisional Third Party Annotation(TPA),Links exist to PubMed,Has 3D structure,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","96","SNV","0.8073,0.1927","True","A/C","rs2072671","EX_TARGET",18529,"965","0.192692",5008,743,111,"212","0.305476",694,158,27,"89","0.0673222",1322,85,2,"225","0.230061",978,167,29,"316","0.314115",1006,222,47,"123","0.122024",1008,111,6,"False"]
["1:20977000","A/C",null,"PASS","0.5","43,43",86,99,"0/1","PINK1","missense_variant","Missense","NM_032409.2","NM_032409.2:c.1562A>C","NP_115785.1:p.Asn521Thr","NM_032409.2","8","89.4044","PINK1","NM_032409.2","mRNA","mRNA","+","NP_115785.1","NP_115785.1","65018","14581","608309","CCDS211.1","10514","serine/threonine-protein kinase PINK1, mitochondrial precursor",null,"True","A/C","rs1043424","Variant is Precious,Links exist to PubMed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","86","SNV","0.6995,0.3005","True","A/C","rs1043424","EX_TARGET",21372,"1505","0.300519",5008,1041,232,"134","0.193084",694,118,8,"325","0.24584",1322,247,39,"392","0.400818",978,236,78,"294","0.292247",1006,214,40,"360","0.357143",1008,226,67,"False",{"$nulls":36},"A/C","295006","Likely Benign","Benign/Likely Benign","Benign (1),Likely benign (2)","(2 Stars) Criteria Provided, Multiple Submitters, No Conflicts","rs1043424","DDOST,PINK1,PINK1-AS","1650,65018,100861548","NC_000001.10:g.20977000A>C","NC_000001.11:g.20650507A>C","NM_032409.2:c.1562A>C","NP_115785.1:p.Asn521Thr","RCV000362537,RCV000408170,RCV000595549","Congenital disorder of glycosylation,Parkinson Disease, Recessive,not specified","Likely Benign,Likely Benign,Benign","(1 Stars) Criteria Provided, Single Submitter,(1 Stars) Criteria Provided, Single Submitter,(1 Stars) Criteria Provided, Single Submitter","2016-06-14,2016-06-14,2017-02-07"]
["1:20977380","T/C",null,"PASS","0.6","2,3",5,66,"0/1","PINK1","3_prime_UTR_variant","Other","NM_032409.2","NM_032409.2:c.*196T>C",null,"NM_032409.2","8",null,"PINK1","NM_032409.2","mRNA","mRNA","+","NP_115785.1","NP_115785.1","65018","14581","608309","CCDS211.1","10514","serine/threonine-protein kinase PINK1, mitochondrial precursor",null,"True","T/C","rs1043443","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","86","SNV","0.6999,0.3001","True","T/C","rs1043443",null,23317,"1503","0.30012",5008,1041,231,"133","0.191643",694,117,8,"324","0.245083",1322,248,38,"392","0.400818",978,236,78,"294","0.292247",1006,214,40,"360","0.357143",1008,226,67,"False",{"$nulls":36},"T/C","295014","Likely Benign","Likely Benign","Likely benign (2)","(1 Stars) Criteria Provided, Single Submitter","rs1043443","DDOST,PINK1,PINK1-AS","1650,65018,100861548","NC_000001.10:g.20977380T>C","NC_000001.11:g.20650887T>C","NM_032409.2:c.*196T>C",null,"RCV000359766,RCV000384143","Parkinson Disease, Recessive,Congenital disorder of glycosylation","Likely Benign,Likely Benign","(1 Stars) Criteria Provided, Single Submitter,(1 Stars) Criteria Provided, Single Submitter","2016-06-14,2016-06-14"]
["1:20990905","G/A",null,"PASS","0.428571","12,9",21,99,"0/1","KIF17","3_prime_UTR_variant","Other","NM_020816.3","NM_020816.3:c.*172C>T",null,"NM_001287212.1,NM_020816.3,NM_001122819.2","15,15,15",",,","KIF17,KIF17,KIF17","NM_001287212.1,NM_020816.3,NM_001122819.2","mRNA,mRNA,mRNA","mRNA,mRNA,mRNA","-,-,-","NP_001274141.1,NP_065867.2,NP_001116291.1","NP_001274141.1,NP_065867.2,NP_001116291.1","57576,57576,57576","19167,19167,19167","605037,605037,605037","CCDS72722.1,CCDS213.1,CCDS44079.1",",,","kinesin-like protein KIF17 isoform c,kinesin-like protein KIF17 isoform a,kinesin-like protein KIF17 isoform b",",,","True","G/A","rs10799659","Has SubmitterLinkOut,In 3' UTR,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","120","SNV","0.8409,0.1591","True","G/A","rs10799659",null,16560,"797","0.159145",5008,663,67,"85","0.122478",694,77,4,"260","0.196672",1322,216,22,"152","0.155419",978,124,14,"223","0.22167",1006,179,22,"77","0.0763889",1008,67,5,"False"]
["1:21024901","C/T",null,"PASS","0.390805","53,34",87,99,"0/1","KIF17","missense_variant","Missense","NM_020816.3","NM_020816.3:c.1204G>A","NP_065867.2:p.Val402Met","NM_001287212.1,NM_020816.3,NM_001122819.2","6,6,6","32.3656,38.932,38.9699","KIF17,KIF17,KIF17","NM_001287212.1,NM_020816.3,NM_001122819.2","mRNA,mRNA,mRNA","mRNA,mRNA,mRNA","-,-,-","NP_001274141.1,NP_065867.2,NP_001116291.1","NP_001274141.1,NP_065867.2,NP_001116291.1","57576,57576,57576","19167,19167,19167","605037,605037,605037","CCDS72722.1,CCDS213.1,CCDS44079.1",",,","kinesin-like protein KIF17 isoform c,kinesin-like protein KIF17 isoform a,kinesin-like protein KIF17 isoform b",",,","True","C/T","rs522496","Variant is Precious,Links exist to PubMed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","83","SNV","0.4032,0.5968","True","C/T","rs522496","EX_TARGET",17649,"2989","0.596845",5008,1149,920,"499","0.71902",694,147,176,"589","0.445537",1322,323,133,"555","0.567485",978,247,154,"691","0.686879",1006,215,238,"655","0.649802",1008,217,219,"False"]
["1:21042094","G/A",null,"PASS","0.627119","22,37",59,99,"0/1","KIF17","5_prime_UTR_premature_start_codon_gain_variant","Missense","NM_020816.3","NM_020816.3:c.270C>T","NP_065867.2:p.Tyr90=","NM_001287212.1,NM_020816.3,NM_001122819.2","2,2,2",",8.7055,8.71396","KIF17,KIF17,KIF17","NM_001287212.1,NM_020816.3,NM_001122819.2","mRNA,mRNA,mRNA","mRNA,mRNA,mRNA","-,-,-","NP_001274141.1,NP_065867.2,NP_001116291.1","NP_001274141.1,NP_065867.2,NP_001116291.1","57576,57576,57576","19167,19167,19167","605037,605037,605037","CCDS72722.1,CCDS213.1,CCDS44079.1",",,","kinesin-like protein KIF17 isoform c,kinesin-like protein KIF17 isoform a,kinesin-like protein KIF17 isoform b",",,","True","G/A/T","rs12046928","Has 3D structure,Has SubmitterLinkOut,Has reference A coding region,Has synonymous A coding region,In 5' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","120","SNV","0.7196,0.2804,","True","G/A","rs12046928","EX_TARGET",19859,"1404","0.280351",5008,708,348,"112","0.161383",694,96,8,"98","0.0741301",1322,86,6,"319","0.326176",978,199,60,"146","0.145129",1006,122,12,"729","0.723214",1008,205,262,"False"]
["1:21671943","T/G",null,"PASS","0.666667","2,4",6,67,"0/1","ECE1","5_prime_UTR_variant","Other","NM_001113348.1","NM_001113348.1:c.-72A>C",null,"NM_001113348.1","1",null,"ECE1","NM_001113348.1","mRNA","mRNA","-","NP_001106819.1","NP_001106819.1","1889","3146","600423","CCDS44081.1","02690","endothelin-converting enzyme 1 isoform 4",null,"True","T/G","rs2072654","RS orientation is reversed,Has SubmitterLinkOut,In 5' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","96","SNV","0.389,0.611","True","T/G","rs2072654",null,6173,"3060","0.611022",5008,1060,1000,"342","0.492795",694,168,87,"1072","0.810893",1322,196,438,"661","0.675869",978,215,223,"565","0.56163",1006,245,160,"420","0.416667",1008,236,92,"False"]
["1:21904206","C/T",null,"PASS","0.584906","22,31",53,99,"0/1","ALPL","3_prime_UTR_variant","Other","NM_000478.5","NM_000478.5:c.*65C>T",null,"NM_000478.5,NM_001177520.2,NM_001127501.3","12,10,11",",,","ALPL,ALPL,ALPL","NM_000478.5,NM_001177520.2,NM_001127501.3","mRNA,mRNA,mRNA","mRNA,mRNA,mRNA","+,+,+","NP_000469.3,NP_001170991.1,NP_001120973.2","NP_000469.3,NP_001170991.1,NP_001120973.2","249,249,249","438,438,438","171760,171760,171760","CCDS217.1,CCDS53274.1,CCDS53275.1",",,","alkaline phosphatase, tissue-nonspecific isozyme isoform 1 preproprotein,alkaline phosphatase, tissue-nonspecific isozyme isoform 3,alkaline phosphatase, tissue-nonspecific isozyme isoform 2",",,","True","C/A/T","rs1697405","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","89","SNV","0.6504,0.01298,0.3367","True","C/T","rs1697405","MULTI_ALLELIC",14724,"1686","0.336661",5008,1104,291,"266","0.383285",694,146,60,"318","0.240545",1322,238,40,"410","0.419223",978,256,77,"376","0.373757",1006,250,63,"316","0.313492",1008,214,51,"False",{"$nulls":36},"C/T","295558","Benign","Benign","Benign (1)","(1 Stars) Criteria Provided, Single Submitter","rs1697405","ALPL","249","NC_000001.10:g.21904206C>T","NC_000001.11:g.21577713C>T","NM_000478.5:c.*65C>T",null,"RCV000370356","Hypophosphatasia","Benign","(1 Stars) Criteria Provided, Single Submitter","2016-06-14"]
["1:21904267","A/G",null,"PASS","0.468085","25,22",47,99,"0/1","ALPL","3_prime_UTR_variant","Other","NM_000478.5","NM_000478.5:c.*126A>G",null,"NM_000478.5,NM_001177520.2,NM_001127501.3","12,10,11",",,","ALPL,ALPL,ALPL","NM_000478.5,NM_001177520.2,NM_001127501.3","mRNA,mRNA,mRNA","mRNA,mRNA,mRNA","+,+,+","NP_000469.3,NP_001170991.1,NP_001120973.2","NP_000469.3,NP_001170991.1,NP_001120973.2","249,249,249","438,438,438","171760,171760,171760","CCDS217.1,CCDS53274.1,CCDS53275.1",",,","alkaline phosphatase, tissue-nonspecific isozyme isoform 1 preproprotein,alkaline phosphatase, tissue-nonspecific isozyme isoform 3,alkaline phosphatase, tissue-nonspecific isozyme isoform 2",",,","True","A/G","rs1697406","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","89","SNV","0.1318,0.8682","True","A/G","rs1697406",null,14625,"4348","0.868211",5008,588,1880,"630","0.907781",694,56,287,"1131","0.855522",1322,171,480,"911","0.931493",978,63,424,"869","0.863817",1006,125,372,"807","0.800595",1008,173,317,"False",{"$nulls":36},"A/G","295561","Benign","Benign","Benign (1)","(1 Stars) Criteria Provided, Single Submitter","rs1697406","ALPL","249","NC_000001.10:g.21904267A>G","NC_000001.11:g.21577774A>G","NM_000478.5:c.*126A>G",null,"RCV000382769","Hypophosphatasia","Benign","(1 Stars) Criteria Provided, Single Submitter","2016-06-14"]
["1:21904529","C/T",null,"PASS","0.444444","30,24",54,99,"0/1","ALPL","3_prime_UTR_variant","Other","NM_000478.5","NM_000478.5:c.*388C>T",null,"NM_000478.5,NM_001177520.2,NM_001127501.3","12,10,11",",,","ALPL,ALPL,ALPL","NM_000478.5,NM_001177520.2,NM_001127501.3","mRNA,mRNA,mRNA","mRNA,mRNA,mRNA","+,+,+","NP_000469.3,NP_001170991.1,NP_001120973.2","NP_000469.3,NP_001170991.1,NP_001120973.2","249,249,249","438,438,438","171760,171760,171760","CCDS217.1,CCDS53274.1,CCDS53275.1",",,","alkaline phosphatase, tissue-nonspecific isozyme isoform 1 preproprotein,alkaline phosphatase, tissue-nonspecific isozyme isoform 3,alkaline phosphatase, tissue-nonspecific isozyme isoform 2",",,","True","C/T","rs2242420","Variant is Precious,Links exist to PubMed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3,Microattribution/third-party annotation(TPA:GWAS,PAGE)","98","SNV","0.8828,0.1172","True","C/T","rs2242420",null,16971,"587","0.117212",5008,537,25,"60","0.0864553",694,54,3,"120","0.0907716",1322,120,0,"66","0.0674847",978,62,2,"140","0.139165",1006,130,5,"201","0.199405",1008,171,15,"False",{"$nulls":36},"C/T","295566","Likely Benign","Likely Benign","Likely benign (1)","(1 Stars) Criteria Provided, Single Submitter","rs2242420","ALPL","249","NC_000001.10:g.21904529C>T","NC_000001.11:g.21578036C>T","NM_000478.5:c.*388C>T",null,"RCV000342056","Hypophosphatasia","Likely Benign","(1 Stars) Criteria Provided, Single Submitter","2016-06-14"]
["1:21904838","C/T",null,"PASS","0.528736","41,46",87,99,"0/1","ALPL","3_prime_UTR_variant","Other","NM_000478.5","NM_000478.5:c.*697C>T",null,"NM_000478.5,NM_001177520.2,NM_001127501.3","12,10,11",",,","ALPL,ALPL,ALPL","NM_000478.5,NM_001177520.2,NM_001127501.3","mRNA,mRNA,mRNA","mRNA,mRNA,mRNA","+,+,+","NP_000469.3,NP_001170991.1,NP_001120973.2","NP_000469.3,NP_001170991.1,NP_001120973.2","249,249,249","438,438,438","171760,171760,171760","CCDS217.1,CCDS53274.1,CCDS53275.1",",,","alkaline phosphatase, tissue-nonspecific isozyme isoform 1 preproprotein,alkaline phosphatase, tissue-nonspecific isozyme isoform 3,alkaline phosphatase, tissue-nonspecific isozyme isoform 2",",,","True","C/T","rs41265991","In 3' UTR,Is Assembly specific,Is Validated,Genotypes available,1000 Genome phase 3","127","SNV","0.9992,0.0007987","True","C/T","rs41265991",null,19159,"4","0.000798722",5008,4,0,"0","0",694,0,0,"0","0",1322,0,0,"0","0",978,0,0,"4","0.00397614",1006,4,0,"0","0",1008,0,0,"False",{"$nulls":36},"C/T","295573","Uncertain Significance","Uncertain Significance","Uncertain significance (1)","(1 Stars) Criteria Provided, Single Submitter","rs41265991","ALPL","249","NC_000001.10:g.21904838C>T","NC_000001.11:g.21578345C>T","NM_000478.5:c.*697C>T",null,"RCV000406516","Hypophosphatasia","Uncertain Significance","(1 Stars) Criteria Provided, Single Submitter","2016-06-14"]
["1:21935433","G/T",null,"PASS","0.567308","45,59",104,99,"0/1","RAP1GAP","splice_region_variant","Other","NM_001330383.1","NM_001330383.1:c.1072-4C>A",null,"NM_001145658.1,NM_001145657.1,NM_002885.2,NM_001330383.1","16,17,16,17",",,,","RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP","NM_001145658.1,NM_001145657.1,NM_002885.2,NM_001330383.1","mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA","-,-,-,-","NP_001139130.1,NP_001139129.1,NP_002876.2,NP_001317312.1","NP_001139130.1,NP_001139129.1,NP_002876.2,NP_001317312.1","5909,5909,5909,5909","9858,9858,9858,9858","600278,600278,600278,600278","CCDS53277.1,CCDS53276.1,CCDS218.1,CCDS81276.1",",,,","rap1 GTPase-activating protein 1 isoform a,rap1 GTPase-activating protein 1 isoform b,rap1 GTPase-activating protein 1 isoform c,rap1 GTPase-activating protein 1 isoform d",",,,","True","G/C/T","rs861212","Has SubmitterLinkOut,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","86","SNV","0.5453,,0.4547","True","G/T","rs861212","EX_TARGET",19807,"2277","0.454673",5008,1099,589,"354","0.510086",694,156,99,"292","0.220877",1322,226,33,"518","0.529652",978,228,145,"456","0.45328",1006,268,94,"657","0.651786",1008,221,218,"False"]
["1:22005671","A/C",null,"FS60,QD2,SOR3","0.177083","79,17",96,99,"0/1","USP48","3_prime_UTR_variant","Other","NM_032236.6","NM_032236.6:c.*239T>G",null,"NM_032236.6,NM_001330394.1","27,26",",","USP48,USP48","NM_032236.6,NM_001330394.1","mRNA,mRNA","mRNA,mRNA","-,-","NP_115612.4,NP_001317323.1","NP_115612.4,NP_001317323.1","84196,84196","18533,18533",",","CCDS30623.1,CCDS81277.1","15637,15637","ubiquitin carboxyl-terminal hydrolase 48 isoform a,ubiquitin carboxyl-terminal hydrolase 48 isoform c",",","False",{"$nulls":41},"False"]
["1:22155353","G/A",null,"PASS","0.440367","61,48",109,99,"0/1","HSPG2","missense_variant","Missense","NM_005529.6","NM_005529.6:c.12212C>T","NP_005520.4:p.Ala4071Val","NM_005529.6,NM_001291860.1","88,88","92.6761,92.6777","HSPG2,HSPG2","NM_005529.6,NM_001291860.1","mRNA,mRNA","mRNA,mRNA","-,-","NP_005520.4,NP_001278789.1","NP_005520.4,NP_001278789.1","3339,3339","5273,5273","142461,142461","CCDS30625.1,",",","basement membrane-specific heparan sulfate proteoglycan core protein isoform b precursor,basement membrane-specific heparan sulfate proteoglycan core protein isoform a precursor",",","True","G/A","rs74859884","Has 3D structure,Has non-synonymous missense A coding region,Has reference A coding region,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),1000 Genome phase 1,1000 Genome phase 3","132","SNV","0.9866,0.01338","True","G/A","rs74859884","EX_TARGET",16566,"67","0.0133786",5008,63,2,"14","0.0201729",694,14,0,"0","0",1322,0,0,"10","0.0102249",978,10,0,"43","0.0427435",1006,39,2,"0","0",1008,0,0,"False",{"$nulls":36},"G/A","295708","Likely Benign","Likely Benign","Likely benign (2)","(1 Stars) Criteria Provided, Single Submitter","rs74859884","HSPG2","3339","NC_000001.10:g.22155353G>A","NC_000001.11:g.21828860G>A","NM_005529.6:c.12212C>T","NP_005520.4:p.Ala4071Val","RCV000261134,RCV000323342","Dyssegmental Dysplasia,Schwartz Jampel syndrome type 1","Likely Benign,Likely Benign","(1 Stars) Criteria Provided, Single Submitter,(1 Stars) Criteria Provided, Single Submitter","2016-06-14,2016-06-14"]
["1:22418286","G/T",null,"PASS","0.75","1,3",4,34,"0/1","CDC42","3_prime_UTR_variant","Other","NM_001791.3","NM_001791.3:c.*276G>T",null,"NM_001791.3,NM_001039802.1","6,7",",","CDC42,CDC42","NM_001791.3,NM_001039802.1","mRNA,mRNA","mRNA,mRNA","+,+","NP_001782.1,NP_001034891.1","NP_001782.1,NP_001034891.1","998,998","1736,1736","116952,116952","CCDS221.1,CCDS221.1",",","cell division control protein 42 homolog isoform 1 precursor,cell division control protein 42 homolog isoform 1 precursor",",","True","G/T","rs12723634","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 3","121","SNV","0.1683,0.8317","True","G/T","rs12723634",null,13022,"4165","0.831669",5008,801,1682,"562","0.809798",694,124,219,"1031","0.779879",1322,269,381,"863","0.882413",978,113,375,"813","0.808151",1006,185,314,"896","0.888889",1008,110,393,"False"]
["1:22445991","C/T",null,"PASS","0.588235","7,10",17,99,"0/1","WNT4","3_prime_UTR_variant","Other","NM_030761.4","NM_030761.4:c.*552G>A",null,"NM_030761.4","5",null,"WNT4","NM_030761.4","mRNA","mRNA","-","NP_110388.2","NP_110388.2","54361","12783","603490","CCDS223.1","04601","protein Wnt-4 precursor",null,"True","C/T","rs3765351","RS orientation is reversed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","107","SNV","0.5677,0.4323","True","C/T","rs3765351",null,19458,"2165","0.432308",5008,1167,499,"242","0.348703",694,148,47,"663","0.501513",1322,345,159,"509","0.52045",978,259,125,"552","0.548708",1006,262,145,"199","0.197421",1008,153,23,"False"]
["1:22852904","G/A",null,"PASS","0.467742","33,29",62,99,"0/1","ZBTB40","3_prime_UTR_variant","Other","NM_014870.3","NM_014870.3:c.*15G>A",null,"NM_014870.3,NM_001330398.1,NM_001083621.1","18,16,19",",,","ZBTB40,ZBTB40,ZBTB40","NM_014870.3,NM_001330398.1,NM_001083621.1","mRNA,mRNA,mRNA","mRNA,mRNA,mRNA","+,+,+","NP_055685.3,NP_001317327.1,NP_001077090.1","NP_055685.3,NP_001317327.1,NP_001077090.1","9923,9923,9923","29045,29045,29045","612106,612106,612106","CCDS224.1,CCDS81278.1,CCDS224.1",",,","zinc finger and BTB domain-containing protein 40 isoform a,zinc finger and BTB domain-containing protein 40 isoform b,zinc finger and BTB domain-containing protein 40 isoform a",",,","True","G/A","rs2281355","RS orientation is reversed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","100","SNV","0.8852,0.1148","True","G/A","rs2281355","EX_TARGET",20863,"575","0.114816",5008,385,95,"135","0.194524",694,93,21,"7","0.00529501",1322,7,0,"52","0.0531697",978,46,3,"22","0.0218688",1006,22,0,"359","0.356151",1008,217,71,"False"]
["1:22853141","G/A",null,"PASS","0.4","3,2",5,66,"0/1","ZBTB40","3_prime_UTR_variant","Other","NM_014870.3","NM_014870.3:c.*252G>A",null,"NM_014870.3,NM_001330398.1,NM_001083621.1","18,16,19",",,","ZBTB40,ZBTB40,ZBTB40","NM_014870.3,NM_001330398.1,NM_001083621.1","mRNA,mRNA,mRNA","mRNA,mRNA,mRNA","+,+,+","NP_055685.3,NP_001317327.1,NP_001077090.1","NP_055685.3,NP_001317327.1,NP_001077090.1","9923,9923,9923","29045,29045,29045","612106,612106,612106","CCDS224.1,CCDS81278.1,CCDS224.1",",,","zinc finger and BTB domain-containing protein 40 isoform a,zinc finger and BTB domain-containing protein 40 isoform b,zinc finger and BTB domain-containing protein 40 isoform a",",,","True","G/A","rs2281354","RS orientation is reversed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","100","SNV","0.7622,0.2378","True","G/A","rs2281354",null,20068,"1191","0.237819",5008,783,204,"108","0.15562",694,78,15,"26","0.0196672",1322,26,0,"374","0.382413",978,224,75,"359","0.356859",1006,247,56,"324","0.321429",1008,208,58,"False"]
["1:22929376","A/G",null,"PASS","0.43038","45,34",79,99,"0/1","EPHA8","3_prime_UTR_variant","Other","NM_020526.4","NM_020526.4:c.*1142A>G",null,"NM_020526.4","17",null,"EPHA8","NM_020526.4","mRNA","mRNA","+","NP_065387.1","NP_065387.1","2046","3391","176945","CCDS225.1","01493","ephrin type-A receptor 8 isoform 1 precursor",null,"True","A/G","rs209697","RS orientation is reversed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","79","SNV","0.8237,0.1763","True","A/G","rs209697",null,14752,"883","0.176318",5008,695,94,"107","0.154179",694,99,4,"366","0.276853",1322,258,54,"157","0.160532",978,121,18,"134","0.133201",1006,114,10,"119","0.118056",1008,103,8,"False"]
["1:22970292","C/T",null,"PASS","0.647059","6,11",17,99,"0/1","C1QC","5_prime_UTR_variant","Other","NM_172369.4","NM_172369.4:c.-14+85C>T",null,"NM_172369.4,NM_001114101.2,NM_001347620.1,NM_001347619.1","1,1,1,1",",,,","C1QC,C1QC,C1QC,C1QC","NM_172369.4,NM_001114101.2,NM_001347620.1,NM_001347619.1","mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA","+,+,+,+","NP_758957.2,NP_001107573.1,NP_001334549.1,NP_001334548.1","NP_758957.2,NP_001107573.1,NP_001334549.1,NP_001334548.1","714,714,714,714","1245,1245,1245,1245","120575,120575,120575,120575","CCDS227.1,CCDS227.1,,",",,,","complement C1q subcomponent subunit C isoform 1 precursor,complement C1q subcomponent subunit C isoform 1 precursor,complement C1q subcomponent subunit C isoform 2,complement C1q subcomponent subunit C isoform 1 precursor",",,,","True","C/T","rs149682412","In Intron,Is Assembly specific,Is Validated,Marker on high density genotype kit (50K+),1000 Genome phase 1,1000 Genome phase 3","134","SNV","0.996,0.003994","True","C/T","rs149682412",null,16126,"20","0.00399361",5008,20,0,"3","0.00432277",694,3,0,"3","0.00226929",1322,3,0,"3","0.00306748",978,3,0,"11","0.0109344",1006,11,0,"0","0",1008,0,0,"False"]
["1:22974076","G/A",null,"PASS","0.465517","31,27",58,99,"0/1","C1QC","missense_variant","Missense","NM_172369.4","NM_172369.4:c.538G>A","NP_758957.2:p.Val180Met","NM_172369.4,NM_001114101.2,NM_001347620.1,NM_001347619.1","3,3,2,3","72.7642,72.7642,57.3248,72.7642","C1QC,C1QC,C1QC,C1QC","NM_172369.4,NM_001114101.2,NM_001347620.1,NM_001347619.1","mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA","+,+,+,+","NP_758957.2,NP_001107573.1,NP_001334549.1,NP_001334548.1","NP_758957.2,NP_001107573.1,NP_001334549.1,NP_001334548.1","714,714,714,714","1245,1245,1245,1245","120575,120575,120575,120575","CCDS227.1,CCDS227.1,,",",,,","complement C1q subcomponent subunit C isoform 1 precursor,complement C1q subcomponent subunit C isoform 1 precursor,complement C1q subcomponent subunit C isoform 2,complement C1q subcomponent subunit C isoform 1 precursor",",,,","True","G/A","rs200292688","Has 3D structure,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated","137","SNV",{"$nulls":36},"False"]
["1:22974297","C/A",null,"PASS","0.45614","31,26",57,99,"0/1","C1QC","3_prime_UTR_variant","Other","NM_172369.4","NM_172369.4:c.*21C>A",null,"NM_172369.4,NM_001114101.2,NM_001347620.1,NM_001347619.1","3,3,2,3",",,,","C1QC,C1QC,C1QC,C1QC","NM_172369.4,NM_001114101.2,NM_001347620.1,NM_001347619.1","mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA","+,+,+,+","NP_758957.2,NP_001107573.1,NP_001334549.1,NP_001334548.1","NP_758957.2,NP_001107573.1,NP_001334549.1,NP_001334548.1","714,714,714,714","1245,1245,1245,1245","120575,120575,120575,120575","CCDS227.1,CCDS227.1,,",",,,","complement C1q subcomponent subunit C isoform 1 precursor,complement C1q subcomponent subunit C isoform 1 precursor,complement C1q subcomponent subunit C isoform 2,complement C1q subcomponent subunit C isoform 1 precursor",",,,","True","C/A/T","rs9434","RS orientation is reversed,Variant is Precious,Links exist to PubMed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","52","SNV","0.4123,0.5877,","True","C/A","rs9434","EX_TARGET",11969,"2943","0.58766",5008,989,977,"344","0.495677",694,186,79,"1176","0.889561",1322,118,529,"411","0.420245",978,235,88,"385","0.382704",1006,225,80,"627","0.622024",1008,225,201,"False"]
["1:23280424","G/T",null,"PASS","0.507692","32,33",65,99,"0/1","LACTBL1","missense_variant","Missense","NM_001289974.1","NM_001289974.1:c.852C>A","NP_001276903.1:p.Asn284Lys","NM_001289974.1","7","48.908","LACTBL1","NM_001289974.1","mRNA","mRNA","-","NP_001276903.1","NP_001276903.1","646262","35445",{"$nulls":3},"putative beta-lactamase-like 1",null,"True","G/T","rs12048993","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","120","SNV","0.6056,0.3944","True","G/T","rs12048993",null,13429,"1975","0.394369",5008,1183,396,"333","0.479827",694,183,75,"307","0.232224",1322,257,25,"403","0.412065",978,241,81,"367","0.364811",1006,239,64,"565","0.560516",1008,263,151,"False"]
["1:23410138","T/G",null,"PASS","0.5","1,1",2,19,"0/1","KDM1A","3_prime_UTR_variant","Other","NM_001009999.2","NM_001009999.2:c.*281T>G",null,"NM_001009999.2,NM_015013.3","21,19",",","KDM1A,KDM1A","NM_001009999.2,NM_015013.3","mRNA,mRNA","mRNA,mRNA","+,+","NP_001009999.1,NP_055828.2","NP_001009999.1,NP_055828.2","23028,23028","29079,29079","609132,609132","CCDS53278.1,CCDS30627.1",",","lysine-specific histone demethylase 1A isoform a,lysine-specific histone demethylase 1A isoform b",",","True","T/G","rs12137204","Has SubmitterLinkOut,In 3' UTR,In 3' gene region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 3","120","SNV","0.4345,0.5655","True","T/G","rs12137204",null,18007,"2832","0.565495",5008,1570,631,"346","0.498559",694,208,69,"838","0.633888",1322,402,218,"450","0.460123",978,280,85,"625","0.621272",1006,323,151,"573","0.568452",1008,357,108,"False"]
["1:23518524","T/C",null,"QUAL30","0.285714","5,2",7,58,"0/1","HTR1D","3_prime_UTR_variant","Other","NM_000864.4","NM_000864.4:c.*1055A>G",null,"NM_000864.4","1",null,"HTR1D","NM_000864.4","mRNA","mRNA","-","NP_000855.1","NP_000855.1","3352","5289","182133","CCDS231.1","01636","5-hydroxytryptamine receptor 1D",null,"True","T/C","rs605367","Variant is Precious,Links exist to PubMed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","83","SNV","0.6468,0.3532","True","T/C","rs605367",null,16817,"1769","0.353235",5008,1065,352,"189","0.272334",694,147,21,"715","0.540847",1322,341,187,"242","0.247444",978,150,46,"357","0.354871",1006,221,68,"266","0.263889",1008,206,30,"False"]
["1:23519477","C/T",null,"PASS","0.222222","7,2",9,46,"0/1","HTR1D","3_prime_UTR_variant","Other","NM_000864.4","NM_000864.4:c.*102G>A",null,"NM_000864.4","1",null,"HTR1D","NM_000864.4","mRNA","mRNA","-","NP_000855.1","NP_000855.1","3352","5289","182133","CCDS231.1","01636","5-hydroxytryptamine receptor 1D",null,"True","C/T","rs623988","RS orientation is reversed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","83","SNV","0.6575,0.3425","True","C/T","rs623988",null,13148,"1715","0.342452",5008,1059,328,"183","0.263689",694,145,19,"667","0.504539",1322,337,165,"242","0.247444",978,150,46,"356","0.353877",1006,220,68,"267","0.264881",1008,207,30,"False"]
["1:23670803","G/C",null,"PASS","0.378788","41,25",66,99,"0/1","HNRNPR","5_prime_UTR_premature_start_codon_gain_variant","Missense","NM_001102398.2","NM_001102398.2:c.-109C>G","NP_001095868.1:p.Met1ext-37","NM_001102398.2,NM_005826.4,NM_001102399.2,NM_001297620.1,NM_001297621.1,NM_001102397.2,NM_001297622.1","1,1,1,1,1,1,1",",,,,,,","HNRNPR,HNRNPR,HNRNPR,HNRNPR,HNRNPR,HNRNPR,HNRNPR","NM_001102398.2,NM_005826.4,NM_001102399.2,NM_001297620.1,NM_001297621.1,NM_001102397.2,NM_001297622.1","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","-,-,-,-,-,-,-","NP_001095868.1,NP_005817.1,NP_001095869.1,NP_001284549.1,NP_001284550.1,NP_001095867.1,NP_001284551.1","NP_001095868.1,NP_005817.1,NP_001095869.1,NP_001284549.1,NP_001284550.1,NP_001095867.1,NP_001284551.1","10236,10236,10236,10236,10236,10236,10236","5047,5047,5047,5047,5047,5047,5047","607201,607201,607201,607201,607201,607201,607201","CCDS44085.1,CCDS232.1,CCDS60020.1,CCDS72727.1,,,CCDS72726.1",",,,,,,","heterogeneous nuclear ribonucleoprotein R isoform 1,heterogeneous nuclear ribonucleoprotein R isoform 2,heterogeneous nuclear ribonucleoprotein R isoform 3,heterogeneous nuclear ribonucleoprotein R isoform 5,heterogeneous nuclear ribonucleoprotein R isoform 7,heterogeneous nuclear ribonucleoprotein R isoform 4,heterogeneous nuclear ribonucleoprotein R isoform 6",",,,,,,","True","G/C","rs12409193","Has SubmitterLinkOut,In 5' UTR,In 5' gene region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","120","SNV","0.6534,0.3466","True","G/C","rs12409193",null,9883,"1736","0.346645",5008,988,374,"310","0.446686",694,172,69,"811","0.613464",1322,327,242,"220","0.224949",978,160,30,"181","0.17992",1006,153,14,"214","0.212302",1008,176,19,"False"]
["1:23686777","C/T",null,"PASS","0.333333","4,2",6,63,"0/1","ZNF436","3_prime_UTR_variant","Other","NM_030634.2","NM_030634.2:c.*1685G>A",null,"NM_030634.2,NM_001077195.1","3,4",",","ZNF436,ZNF436","NM_030634.2,NM_001077195.1","mRNA,mRNA","mRNA,mRNA","-,-","NP_085137.1,NP_001070663.1","NP_085137.1,NP_001070663.1","80818,80818","20814,20814","611703,611703","CCDS233.1,CCDS233.1",",","zinc finger protein 436,zinc finger protein 436",",","True","C/T","rs17437528","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","123","SNV","0.9227,0.07728","True","C/T","rs17437528",null,19826,"387","0.0772764",5008,351,18,"76","0.10951",694,66,5,"56","0.0423601",1322,54,1,"36","0.0368098",978,36,0,"123","0.122266",1006,105,9,"96","0.0952381",1008,90,3,"False"]
["1:23686798","A/G",null,"PASS","0.375","5,3",8,80,"0/1","ZNF436","3_prime_UTR_variant","Other","NM_030634.2","NM_030634.2:c.*1664T>C",null,"NM_030634.2,NM_001077195.1","3,4",",","ZNF436,ZNF436","NM_030634.2,NM_001077195.1","mRNA,mRNA","mRNA,mRNA","-,-","NP_085137.1,NP_001070663.1","NP_085137.1,NP_001070663.1","80818,80818","20814,20814","611703,611703","CCDS233.1,CCDS233.1",",","zinc finger protein 436,zinc finger protein 436",",","True","A/G","rs601786","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","83","SNV","0.9193,0.08067","True","A/G","rs601786",null,20088,"404","0.0806709",5008,364,20,"76","0.10951",694,66,5,"73","0.0552194",1322,67,3,"36","0.0368098",978,36,0,"123","0.122266",1006,105,9,"96","0.0952381",1008,90,3,"False"]
["1:23687827","T/C",null,"PASS","0.425926","93,69",162,99,"0/1","ZNF436","3_prime_UTR_variant","Other","NM_030634.2","NM_030634.2:c.*635A>G",null,"NM_030634.2,NM_001077195.1","3,4",",","ZNF436,ZNF436","NM_030634.2,NM_001077195.1","mRNA,mRNA","mRNA,mRNA","-,-","NP_085137.1,NP_001070663.1","NP_085137.1,NP_001070663.1","80818,80818","20814,20814","611703,611703","CCDS233.1,CCDS233.1",",","zinc finger protein 436,zinc finger protein 436",",","True","T/C","rs644749","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","83","SNV","0.7258,0.2742","True","T/C","rs644749",null,23116,"1373","0.274161",5008,987,193,"166","0.239193",694,130,18,"435","0.329047",1322,295,70,"304","0.310838",978,200,52,"192","0.190855",1006,162,15,"276","0.27381",1008,200,38,"False"]
["1:23694639","G/A",null,"PASS","0.4375","18,14",32,99,"0/1","ZNF436","5_prime_UTR_variant","Other","NM_030634.2","NM_030634.2:c.-141C>T",null,"NM_030634.2,NM_001077195.1","1,2",",","ZNF436,ZNF436","NM_030634.2,NM_001077195.1","mRNA,mRNA","mRNA,mRNA","-,-","NP_085137.1,NP_001070663.1","NP_085137.1,NP_001070663.1","80818,80818","20814,20814","611703,611703","CCDS233.1,CCDS233.1",",","zinc finger protein 436,zinc finger protein 436",",","True","G/A","rs683204","RS orientation is reversed,Has SubmitterLinkOut,In 5' UTR,In Intron,In 5' gene region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","83","SNV","0.9191,0.08087","True","G/A","rs683204",null,16824,"405","0.0808706",5008,365,20,"77","0.110951",694,67,5,"73","0.0552194",1322,67,3,"36","0.0368098",978,36,0,"123","0.122266",1006,105,9,"96","0.0952381",1008,90,3,"False"]
["1:23884661","G/A",null,"PASS","0.521739","66,72",138,99,"0/1","ID3","3_prime_UTR_variant","Other","NM_002167.4","NM_002167.4:c.*271C>T",null,"NM_002167.4","3",null,"ID3","NM_002167.4","mRNA","mRNA","-","NP_002158.3","NP_002158.3","3399","5362","600277","CCDS237.1",null,"DNA-binding protein inhibitor ID-3",null,"True","G/A","rs1050096","RS orientation is reversed,Variant is Precious,Links exist to PubMed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","86","SNV","0.2644,0.7356","True","G/A","rs1050096",null,15351,"3684","0.735623",5008,946,1369,"446","0.642651",694,162,142,"950","0.718608",1322,278,336,"740","0.756646",978,198,271,"635","0.631213",1006,225,205,"913","0.905754",1008,83,415,"False"]
["1:23885498","T/C",null,"PASS","0.388235","52,33",85,99,"0/1","ID3","missense_variant","Missense","NM_002167.4","NM_002167.4:c.313A>G","NP_002158.3:p.Thr105Ala","NM_002167.4","2","86.6667","ID3","NM_002167.4","mRNA","mRNA","-","NP_002158.3","NP_002158.3","3399","5362","600277","CCDS237.1",null,"DNA-binding protein inhibitor ID-3",null,"True","T/C","rs11574","RS orientation is reversed,Variant is Precious,Links exist to PubMed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","52","SNV","0.1096,0.8904","True","T/C","rs11574","EX_TARGET",19174,"4459","0.890375",5008,423,2018,"513","0.739193",694,129,192,"1308","0.98941",1322,14,647,"899","0.919223",978,73,413,"762","0.757455",1006,178,292,"977","0.969246",1008,29,474,"False"]
["1:23886073","T/C",null,"PASS","0.5","10,10",20,99,"0/1","ID3","5_prime_UTR_variant","Other","NM_002167.4","NM_002167.4:c.-156A>G",null,"NM_002167.4","1",null,"ID3","NM_002167.4","mRNA","mRNA","-","NP_002158.3","NP_002158.3","3399","5362","600277","CCDS237.1",null,"DNA-binding protein inhibitor ID-3",null,"True","T/C","rs2742946","Variant is Precious,Links exist to PubMed,Has SubmitterLinkOut,In 5' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","100","SNV","0.5649,0.4351","True","T/C","rs2742946",null,12756,"2179","0.435104",5008,1143,518,"275","0.396254",694,153,61,"503","0.380484",1322,291,106,"316","0.323108",978,204,56,"483","0.480119",1006,243,120,"602","0.597222",1008,252,175,"False"]
["1:24447116","C/T",null,"PASS","0.666667","10,20",30,99,"0/1","IL22RA1","3_prime_UTR_variant","Other","NM_021258.3","NM_021258.3:c.*179G>A",null,"NM_021258.3","7",null,"IL22RA1","NM_021258.3","mRNA","mRNA","-","NP_067081.2","NP_067081.2","58985","13700","605457","CCDS247.1","16108","interleukin-22 receptor subunit alpha-1 precursor",null,"True","C/T","rs3795302","RS orientation is reversed,Variant is Precious,Links exist to PubMed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","107","SNV","0.5132,0.4868","True","C/T","rs3795302",null,19870,"2438","0.486821",5008,1116,661,"382","0.550432",694,150,116,"372","0.281392",1322,254,59,"540","0.552147",978,260,140,"412","0.409543",1006,262,75,"732","0.72619",1008,190,271,"False"]
["1:24447214","G/A",null,"PASS","0.54","23,27",50,99,"0/1","IL22RA1","3_prime_UTR_variant","Other","NM_021258.3","NM_021258.3:c.*81C>T",null,"NM_021258.3","7",null,"IL22RA1","NM_021258.3","mRNA","mRNA","-","NP_067081.2","NP_067081.2","58985","13700","605457","CCDS247.1","16108","interleukin-22 receptor subunit alpha-1 precursor",null,"True","G/A","rs3795300","RS orientation is reversed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","107","SNV","0.2829,0.7171","True","G/A","rs3795300",null,19240,"3591","0.717053",5008,973,1309,"396","0.570605",694,168,114,"1051","0.795008",1322,215,418,"783","0.800614",978,169,307,"627","0.62326",1006,235,196,"734","0.728175",1008,186,274,"False"]
["1:24447468","G/C",null,"PASS","0.513889","35,37",72,99,"0/1","IL22RA1","missense_variant","Missense","NM_021258.3","NM_021258.3:c.1552C>G","NP_067081.2:p.Arg518Gly","NM_021258.3","7","89.913","IL22RA1","NM_021258.3","mRNA","mRNA","-","NP_067081.2","NP_067081.2","58985","13700","605457","CCDS247.1","16108","interleukin-22 receptor subunit alpha-1 precursor",null,"True","G/C","rs3795299","RS orientation is reversed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","107","SNV","0.5337,0.4663","True","G/C","rs3795299","EX_TARGET",19250,"2335","0.466254",5008,1123,606,"280","0.403458",694,158,61,"380","0.287443",1322,262,59,"542","0.554192",978,260,141,"402","0.399602",1006,254,74,"731","0.725198",1008,189,271,"False"]
["1:24690764","T/A",null,"PASS","0.53913","53,62",115,99,"0/1","GRHL3,STPG1","missense_variant","Missense","NM_198174.2,NM_001199012.1","NM_198174.2:c.1784T>A,NM_001199012.1:c.738-3233A>T","NP_937817.3:p.Met595Lys,","NM_198174.2,NM_178122.4,NM_001199013.1,NM_001199014.1,NM_001199012.1","16,7,8,9,8","94.79,,,,","GRHL3,STPG1,STPG1,STPG1,STPG1","NM_198174.2,NM_178122.4,NM_001199013.1,NM_001199014.1,NM_001199012.1","mRNA,mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA,mRNA","+,-,-,-,-","NP_937817.3,NP_835223.1,NP_001185942.1,NP_001185943.1,NP_001185941.1","NP_937817.3,NP_835223.1,NP_001185942.1,NP_001185943.1,NP_001185941.1","57822,90529,90529,90529,90529","25839,28070,28070,28070,28070","608317,615826,615826,615826,615826","CCDS252.2,CCDS253.1,CCDS55581.1,,CCDS55581.1","12210,,,,","grainyhead-like protein 3 homolog isoform 3,O(6)-methylguanine-induced apoptosis 2 isoform 2,O(6)-methylguanine-induced apoptosis 2 isoform 1,O(6)-methylguanine-induced apoptosis 2 isoform 3,O(6)-methylguanine-induced apoptosis 2 isoform 1",",,,,","True","T/A","rs545809","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","83","SNV","0.7011,0.2989","True","T/A","rs545809",null,15454,"1497","0.298922",5008,1011,243,"160","0.230548",694,124,18,"297","0.22466",1322,235,31,"349","0.356851",978,225,62,"275","0.27336",1006,189,43,"416","0.412698",1008,238,89,"False"]
["1:24706292","T/C",null,"PASS","0.476923","34,31",65,99,"0/1","STPG1","missense_variant","Missense","NM_001199012.1","NM_001199012.1:c.313A>G","NP_001185941.1:p.Ile105Val","NM_178122.4,NM_001199013.1,NM_001199014.1,NM_001199012.1","4,5,6,5","19.7917,31.0448,4.93827,31.0448","STPG1,STPG1,STPG1,STPG1","NM_178122.4,NM_001199013.1,NM_001199014.1,NM_001199012.1","mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA","-,-,-,-","NP_835223.1,NP_001185942.1,NP_001185943.1,NP_001185941.1","NP_835223.1,NP_001185942.1,NP_001185943.1,NP_001185941.1","90529,90529,90529,90529","28070,28070,28070,28070","615826,615826,615826,615826","CCDS253.1,CCDS55581.1,,CCDS55581.1",",,,","O(6)-methylguanine-induced apoptosis 2 isoform 2,O(6)-methylguanine-induced apoptosis 2 isoform 1,O(6)-methylguanine-induced apoptosis 2 isoform 3,O(6)-methylguanine-induced apoptosis 2 isoform 1",",,,","True","T/C","rs1142057","RS orientation is reversed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","110","SNV","0.6344,0.3656","True","T/C","rs1142057","EX_TARGET",20191,"1831","0.365615",5008,1095,368,"336","0.48415",694,168,84,"408","0.308623",1322,278,65,"282","0.288344",978,174,54,"357","0.354871",1006,223,67,"448","0.444444",1008,252,98,"False"]
["1:26487940","A/G",null,"PASS","0.535354","46,53",99,99,"0/1","FAM110D","missense_variant","Missense","NM_024869.2","NM_024869.2:c.158A>G","NP_079145.2:p.His53Arg","NM_024869.2","2","19.2402","FAM110D","NM_024869.2","mRNA","mRNA","+","NP_079145.2","NP_079145.2","79927","25860",null,"CCDS41285.1",null,"protein FAM110D",null,"True","A/G","rs3748856","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","107","SNV","0.8123,0.1877","True","A/G","rs3748856","EX_TARGET",14600,"940","0.1877",5008,724,108,"160","0.230548",694,132,14,"53","0.0400908",1322,49,2,"126","0.128834",978,114,6,"327","0.32505",1006,225,51,"274","0.271825",1008,204,35,"False"]
["1:26671144","T/C",null,"PASS","0.433333","34,26",60,99,"0/1","AIM1L","missense_variant","Missense","NM_001039775.3","NM_001039775.3:c.2005A>G","NP_001034864.2:p.Ile669Val","NM_001039775.3","2","40.1925","AIM1L","NM_001039775.3","mRNA","mRNA","-","NP_001034864.2","NP_001034864.2","55057","17295",{"$nulls":3},"absent in melanoma 1-like protein",null,"True","T/C","rs35433596","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","126","SNV","0.9876,0.01238","True","T/C","rs35433596",null,20235,"62","0.0123802",5008,60,1,"14","0.0201729",694,14,0,"1","0.00075643",1322,1,0,"9","0.00920245",978,9,0,"36","0.0357853",1006,34,1,"2","0.00198413",1008,2,0,"False"]
["1:31230668","C/T",null,"PASS","0.422222","26,19",45,99,"0/1","LAPTM5","5_prime_UTR_variant","Other","NM_006762.2","NM_006762.2:c.-76G>A",null,"NM_006762.2","1",null,"LAPTM5","NM_006762.2","mRNA","mRNA","-","NP_006753.1","NP_006753.1","7805","29612","601476","CCDS337.1","03280","lysosomal-associated transmembrane protein 5",null,"True","C/T","rs2273979","RS orientation is reversed,Has SubmitterLinkOut,In 5' UTR,In 5' gene region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","100","SNV","0.7408,0.2592","True","C/T","rs2273979",null,15048,"1298","0.259185",5008,896,201,"289","0.416427",694,161,64,"451","0.34115",1322,297,77,"125","0.127812",978,113,6,"174","0.172962",1006,146,14,"259","0.256944",1008,179,40,"False"]
["1:32829261","A/G",null,"PASS","0.545455","20,24",44,99,"0/1","TSSK3","missense_variant","Missense","NM_052841.3","NM_052841.3:c.211A>G","NP_443073.1:p.Ile71Val","NM_052841.3","2","26.0223","TSSK3","NM_052841.3","mRNA","mRNA","+","NP_443073.1","NP_443073.1","81629","15473","607660","CCDS362.1","09635","testis-specific serine/threonine-protein kinase 3",null,"True","A/G","rs35508255","Has 3D structure,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,In 5' UTR,In 5' gene region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","126","SNV","0.9838,0.01617","True","A/G","rs35508255","EX_TARGET",19728,"81","0.0161741",5008,79,1,"4","0.00576369",694,4,0,"77","0.0582451",1322,75,1,"0","0",978,0,0,"0","0",1006,0,0,"0","0",1008,0,0,"False"]
["1:33476292","A/G",null,"PASS","0.532544","79,90",169,99,"0/1","AK2","3_prime_UTR_variant","Other","NM_013411.4","NM_013411.4:c.*138T>C",null,"NM_001319141.1,NM_001319139.1,NM_001199199.1,NM_013411.4,NM_001319142.1","8,8,7,7,6",",,,,","AK2,AK2,AK2,AK2,AK2","NM_001319141.1,NM_001319139.1,NM_001199199.1,NM_013411.4,NM_001319142.1","mRNA,mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA,mRNA","-,-,-,-,-","NP_001306070.1,NP_001306068.1,NP_001186128.1,NP_037543.1,NP_001306071.1","NP_001306070.1,NP_001306068.1,NP_001186128.1,NP_037543.1,NP_001306071.1","204,204,204,204,204","362,362,362,362,362","103020,103020,103020,103020,103020","CCDS81296.1,,,CCDS373.1,CCDS81294.1","00047,00047,00047,00047,00047","adenylate kinase 2, mitochondrial isoform f,adenylate kinase 2, mitochondrial isoform d,adenylate kinase 2, mitochondrial isoform c,adenylate kinase 2, mitochondrial isoform b,adenylate kinase 2, mitochondrial isoform g",",,,,","True","A/G","rs74066439","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available","130","SNV",{"$nulls":36},"False"]
["1:38002068","C/T",null,"PASS","0.454545","18,15",33,99,"0/1","SNIP1","3_prime_UTR_variant","Other","NM_024700.3","NM_024700.3:c.*1281G>A",null,"NM_024700.3","4",null,"SNIP1","NM_024700.3","mRNA","mRNA","-","NP_078976.2","NP_078976.2","79753","30587","608241","CCDS419.1","06999","smad nuclear-interacting protein 1",null,"True","C/T","rs41267303","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","127","SNV","0.8065,0.1935","True","C/T","rs41267303",null,19303,"969","0.19349",5008,715,127,"131","0.188761",694,109,11,"58","0.0438729",1322,58,0,"183","0.187117",978,143,20,"245","0.243539",1006,197,24,"352","0.349206",1008,208,72,"False"]
["1:43201216","A/C",null,"PASS","0.6","8,12",20,99,"0/1","CLDN19","3_prime_UTR_variant","Other","NM_148960.2","NM_148960.2:c.626+333T>G",null,"NM_001123395.1,NM_148960.2,NM_001185117.1","4,4,3",",,","CLDN19,CLDN19,CLDN19","NM_001123395.1,NM_148960.2,NM_001185117.1","mRNA,mRNA,mRNA","mRNA,mRNA,mRNA","-,-,-","NP_001116867.1,NP_683763.2,NP_001172046.1","NP_001116867.1,NP_683763.2,NP_001172046.1","149461,149461,149461","2040,2040,2040","610036,610036,610036","CCDS44125.1,CCDS471.1,CCDS53306.1",",,","claudin-19 isoform b,claudin-19 isoform a,claudin-19 isoform c",",,","True","A/C","rs12141833","Has SubmitterLinkOut,In 3' UTR,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","120","SNV","0.4431,0.5569","True","A/C","rs12141833",null,19125,"2789","0.556909",5008,1159,815,"423","0.60951",694,169,127,"454","0.343419",1322,302,76,"637","0.651329",978,233,202,"602","0.59841",1006,236,183,"673","0.667659",1008,219,227,"False"]
["1:45797505","C/G",null,"PASS","0.520833","23,25",48,99,"0/1","MUTYH","missense_variant","Missense","NM_001128425.1","NM_001128425.1:c.1014G>C","NP_001121897.1:p.Gln338His","NM_001293191.1,NM_001048174.1,NM_001293195.1,NM_001048172.1,NM_001048173.1,NM_001293196.1,NM_012222.2,NM_001293190.1,NM_001048171.1,NM_001293192.1,NM_001128425.1","12,12,13,12,12,12,12,12,12,12,12","60.1626,59.3231,59.3231,59.4009,59.3231,50.6202,61.1822,60.4593,60.3856,50.6202,61.3939","MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH","NM_001293191.1,NM_001048174.1,NM_001293195.1,NM_001048172.1,NM_001048173.1,NM_001293196.1,NM_012222.2,NM_001293190.1,NM_001048171.1,NM_001293192.1,NM_001128425.1","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","-,-,-,-,-,-,-,-,-,-,-","NP_001280120.1,NP_001041639.1,NP_001280124.1,NP_001041637.1,NP_001041638.1,NP_001280125.1,NP_036354.1,NP_001280119.1,NP_001041636.1,NP_001280121.1,NP_001121897.1","NP_001280120.1,NP_001041639.1,NP_001280124.1,NP_001041637.1,NP_001041638.1,NP_001280125.1,NP_036354.1,NP_001280119.1,NP_001041636.1,NP_001280121.1,NP_001121897.1","4595,4595,4595,4595,4595,4595,4595,4595,4595,4595,4595","7527,7527,7527,7527,7527,7527,7527,7527,7527,7527,7527","604933,604933,604933,604933,604933,604933,604933,604933,604933,604933,604933","CCDS72776.1,CCDS41322.1,CCDS41322.1,CCDS41321.1,CCDS41322.1,,CCDS520.1,CCDS72777.1,CCDS41320.1,,","05380,05380,05380,05380,05380,05380,05380,05380,05380,05380,05380","adenine DNA glycosylase isoform 7,adenine DNA glycosylase isoform 4,adenine DNA glycosylase isoform 4,adenine DNA glycosylase isoform 3,adenine DNA glycosylase isoform 4,adenine DNA glycosylase isoform 8,adenine DNA glycosylase isoform 1,adenine DNA glycosylase isoform 6,adenine DNA glycosylase isoform 2,adenine DNA glycosylase isoform 8,adenine DNA glycosylase isoform 5",",,,,,,,,,,LRG_220t1","True","C/G","rs3219489","RS orientation is reversed,Variant is Precious,Links exist to PubMed,Has 3D structure,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","106","SNV","0.6865,0.3135","True","C/G","rs3219489","EX_TARGET",17085,"1570","0.313498",5008,1010,280,"336","0.48415",694,160,88,"341","0.257942",1322,245,48,"253","0.258691",978,183,35,"246","0.244533",1006,184,31,"394","0.390873",1008,238,78,"False",{"$nulls":36},"C/G","41767","Benign","Benign","Benign (13)","(2 Stars) Criteria Provided, Multiple Submitters, No Conflicts","rs3219489","MUTYH","4595","NC_000001.10:g.45797505C>G","NC_000001.11:g.45331833C>G","LRG_220t1:c.1014G>C","LRG_220p1:p.Gln338His","RCV000034684,RCV000079500,RCV000131427,RCV000144634,RCV000299432","not provided,not specified,Hereditary cancer-predisposing syndrome,Carcinoma of colon,MYH-associated polyposis","Benign,Benign,Benign,Benign,Benign","(1 Stars) Criteria Provided, Single Submitter,(2 Stars) Criteria Provided, Multiple Submitters, No Conflicts,(2 Stars) Criteria Provided, Multiple Submitters, No Conflicts,(0 Stars) No Assertion Criteria Provided,(2 Stars) Criteria Provided, Multiple Submitters, No Conflicts","2017-05-01,2017-05-12,2015-03-27,2014-07-24,2017-07-10"]
["1:47080679","G/A",null,"PASS","0.43662","80,62",142,99,"0/1","MOB3C","stop_gained","LoF","NM_145279.4","NM_145279.4:c.70C>T","NP_660322.2:p.Arg24Ter","NM_145279.4,NM_201403.2","1,2","8.55019,","MOB3C,MOB3C","NM_145279.4,NM_201403.2","mRNA,mRNA","mRNA,mRNA","-,-","NP_660322.2,NP_958805.1","NP_660322.2,NP_958805.1","148932,148932","29800,29800",",","CCDS539.1,CCDS540.1","17584,17584","MOB kinase activator 3C isoform 1,MOB kinase activator 3C isoform 2",",","True","G/A/C","rs6671527","Has SubmitterLinkOut,Has non-synonymous nonsense A coding region,Has reference A coding region,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","116","SNV","0.3578,0.6422,","True","G/A","rs6671527","EX_TARGET",15802,"3216","0.642173",5008,1010,1103,"361","0.520173",694,173,94,"746","0.564297",1322,310,218,"698","0.713701",978,200,249,"478","0.475149",1006,252,113,"933","0.925595",1008,75,429,"False"]
["1:53680090","G/A",null,"PASS","0.708333","7,17",24,99,"0/1","C1orf123","3_prime_UTR_variant","Other","NM_017887.2","NM_017887.2:c.*241C>T",null,"NM_017887.2,NM_001304759.1,NM_001304760.1","8,7,6",",,","C1orf123,C1orf123,C1orf123","NM_017887.2,NM_001304759.1,NM_001304760.1","mRNA,mRNA,mRNA","mRNA,mRNA,mRNA","-,-,-","NP_060357.1,NP_001291688.1,NP_001291689.1","NP_060357.1,NP_001291688.1,NP_001291689.1","54987,54987,54987","26059,26059,26059",",,","CCDS576.1,,",",,","UPF0587 protein C1orf123 isoform 1,UPF0587 protein C1orf123 isoform 2,UPF0587 protein C1orf123 isoform 3",",,","True","G/A","rs1056425","RS orientation is reversed,Variant is Precious,Links exist to PubMed,Has SubmitterLinkOut,In 3' UTR,In 3' gene region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","86","SNV","0.7764,0.2236","True","G/A","rs1056425",null,20551,"1120","0.223642",5008,746,187,"123","0.177233",694,97,13,"76","0.0574887",1322,76,0,"138","0.141104",978,118,10,"313","0.311133",1006,209,52,"470","0.46627",1008,246,112,"False"]
["1:55307693","C/A",null,"PASS","0.511628","21,22",43,99,"0/1","LEXM","3_prime_UTR_variant","Other","NM_001110533.1","NM_001110533.1:c.*147C>A",null,"NM_001110533.1,NM_152607.2","10,11",",","LEXM,LEXM","NM_001110533.1,NM_152607.2","mRNA,mRNA","mRNA,mRNA","+,+","NP_001104003.1,NP_689820.2","NP_001104003.1,NP_689820.2","163747,163747","26854,26854","616446,616446","CCDS44153.1,CCDS599.1",",","lymphocyte expansion molecule isoform 2,lymphocyte expansion molecule isoform 1",",","True","C/A","rs17111100","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","123","SNV","0.7732,0.2268","True","C/A","rs17111100",null,19514,"1136","0.226837",5008,798,169,"192","0.276657",694,130,31,"198","0.149773",1322,176,11,"80","0.0817996",978,74,3,"222","0.220676",1006,176,23,"444","0.440476",1008,242,101,"False"]
["1:62261168","A/G",null,"PASS","0.456376","81,68",149,99,"0/1","PATJ","missense_variant","Missense","NM_176877.2","NM_176877.2:c.1198A>G","NP_795352.2:p.Ile400Val","NM_176877.2","10","22.1421","PATJ","NM_176877.2","mRNA","mRNA","+","NP_795352.2","NP_795352.2","10207","28881","603199","CCDS617.2",null,"inaD-like protein",null,"True","A/G","rs7516332","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","116","SNV","0.5651,0.4349","True","A/G","rs7516332","EX_TARGET",17382,"2178","0.434904",5008,1068,555,"391","0.563401",694,165,113,"239","0.180787",1322,183,28,"597","0.610429",978,221,188,"496","0.493042",1006,258,119,"455","0.451389",1008,241,107,"True","esv3586222","Loss","<CN0>","DEL_union","EX_TARGET","16950","1","0.000199681","5008","1","0","1","0.00144092","694","1","0","0","0","1322","0","0","0","0","978","0","0","0","0","1006","0","0","0","0","1008","0","0"]
["1:67288045","C/T",null,"PASS","0.548781","37,45",82,99,"0/1","WDR78","missense_variant","Missense","NM_024763.4","NM_024763.4:c.2495G>A","NP_079039.4:p.Arg832Gln","NM_024763.4","16","97.9191","WDR78","NM_024763.4","mRNA","mRNA","-","NP_079039.4","NP_079039.4","79819","26252",null,"CCDS635.1",null,"WD repeat-containing protein 78 isoform 1",null,"True","C/T","rs482082","RS orientation is reversed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","83","SNV","0.4852,0.5148","True","C/T","rs482082","EX_TARGET",14916,"2578","0.514776",5008,1220,679,"378","0.544669",694,180,99,"732","0.553707",1322,334,199,"342","0.349693",978,238,52,"479","0.476143",1006,247,116,"647","0.641865",1008,221,213,"False"]
["1:78025551","C/T",null,"PASS","0.489362","48,46",94,99,"0/1","AK5","3_prime_UTR_variant","Other","NM_174858.2","NM_174858.2:c.*1196C>T",null,"NM_174858.2,NM_012093.3","14,14",",","AK5,AK5","NM_174858.2,NM_012093.3","mRNA,mRNA","mRNA,mRNA","+,+","NP_777283.1,NP_036225.2","NP_777283.1,NP_036225.2","26289,26289","365,365","608009,608009","CCDS675.1,CCDS676.1","10472,10472","adenylate kinase isoenzyme 5 isoform 1,adenylate kinase isoenzyme 5 isoform 2",",","True","C/T","rs3509","RS orientation is reversed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","36","SNV","0.3876,0.6124","True","C/T","rs3509",null,17577,"3067","0.61242",5008,1047,1010,"556","0.801153",694,110,223,"509","0.385023",1322,299,105,"508","0.519427",978,238,135,"749","0.744533",1006,199,275,"745","0.739087",1008,201,272,"False"]
["1:89449434","T/C",null,"PASS","0.346939","96,51",147,99,"0/1","KYAT3,RBMXL1","missense_variant","Missense","NM_001008661.2,NM_019610.5","NM_001008661.2:c.99+4501A>G,NM_019610.5:c.76A>G",",NP_062556.2:p.Thr26Ala","NM_001008662.2,NM_001008661.2,NM_001162536.2,NM_019610.5","1,2,3,2",",,6.39386,6.39386","KYAT3,KYAT3,RBMXL1,RBMXL1","NM_001008662.2,NM_001008661.2,NM_001162536.2,NM_019610.5","mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA","-,-,-,-","NP_001008662.1,NP_001008661.1,NP_001156008.1,NP_062556.2","NP_001008662.1,NP_001008661.1,NP_001156008.1,NP_062556.2","56267,56267,494115,494115","33238,33238,25073,25073","610656,610656,,","CCDS30767.1,CCDS30766.1,CCDS716.1,CCDS716.1","13752,13752,17417,17417","kynurenine--oxoglutarate transaminase 3 isoform 2,kynurenine--oxoglutarate transaminase 3 isoform 1,RNA binding motif protein, X-linked-like-1,RNA binding motif protein, X-linked-like-1",",,,","True","T/C","rs2893084","Has 3D structure,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available","101","SNV",{"$nulls":36},"False"]
["1:89478868","G/A",null,"PASS","0.54717","48,58",106,99,"0/1","GBP3","missense_variant","Missense","NM_018284.2","NM_018284.2:c.868C>T","NP_060754.2:p.Arg290Cys","NM_018284.2,NM_001319180.1,NM_001319179.1,NM_001319181.1","6,6,7,6","48.4899,33.5498,40.619,53.0275","GBP3,GBP3,GBP3,GBP3","NM_018284.2,NM_001319180.1,NM_001319179.1,NM_001319181.1","mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA","-,-,-,-","NP_060754.2,NP_001306109.1,NP_001306108.1,NP_001306110.1","NP_060754.2,NP_001306109.1,NP_001306108.1,NP_001306110.1","2635,2635,2635,2635","4184,4184,4184,4184","600413,600413,600413,600413","CCDS717.2,,,",",,,","guanylate-binding protein 3 isoform 1,guanylate-binding protein 3 isoform 3,guanylate-binding protein 3 isoform 2,guanylate-binding protein 3 isoform 4",",,,","True","G/A","rs113490655","Has 3D structure,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","132","SNV","0.865,0.135","True","G/A","rs113490655","EX_TARGET",19236,"676","0.134984",5008,558,59,"105","0.151297",694,89,8,"13","0.00983359",1322,13,0,"200","0.204499",978,164,18,"189","0.187873",1006,157,16,"169","0.167659",1008,135,17,"False"]
["1:99358358","G/T",null,"PASS","0.6","6,9",15,99,"0/1","PLPPR5","3_prime_UTR_variant","Other","NM_001037317.1","NM_001037317.1:c.*270C>A",null,"NM_001037317.1,NM_001010861.2","6,6",",","PLPPR5,PLPPR5","NM_001037317.1,NM_001010861.2","mRNA,mRNA","mRNA,mRNA","-,-","NP_001032394.1,NP_001010861.1","NP_001032394.1,NP_001010861.1","163404,163404","31703,31703","617287,617287","CCDS30778.1,CCDS30779.1",",","phospholipid phosphatase-related protein type 5 isoform 1,phospholipid phosphatase-related protein type 5 isoform 2",",","True","G/T","rs984271","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","86","SNV","0.4329,0.5671","True","G/T","rs984271",null,14601,"2840","0.567093",5008,1144,848,"414","0.596542",694,172,121,"492","0.372163",1322,302,95,"538","0.550102",978,246,146,"643","0.639165",1006,241,201,"753","0.747024",1008,183,285,"False"]
["1:109369915","G/T",null,"PASS","0.56962","34,45",79,99,"0/1","AKNAD1","missense_variant","Missense","NM_152763.4","NM_152763.4:c.1848C>A","NP_689976.2:p.Asn616Lys","NM_152763.4","11","73.5564","AKNAD1","NM_152763.4","mRNA","mRNA","-","NP_689976.2","NP_689976.2","254268","28398",null,"CCDS791.2",null,"protein AKNAD1",null,"True","G/T","rs7551421","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","116","SNV","0.4968,0.5032","True","G/T","rs7551421","EX_TARGET",16967,"2520","0.503195",5008,1040,740,"367","0.528818",694,153,107,"837","0.633132",1322,317,260,"465","0.47546",978,197,134,"584","0.580517",1006,222,181,"267","0.264881",1008,151,58,"True","esv3587138","Loss","<CN0>","DEL_union","EX_TARGET","19600","206","0.0411342","5008","192","7","45","0.0648415","694","45","0","1","0.00075643","1322","1","0","47","0.0480573","978","47","0","25","0.0248509","1006","25","0","88","0.0873016","1008","74","7"]
["1:110944087","A/G",null,"PASS","0.475248","53,48",101,99,"0/1","LAMTOR5","3_prime_UTR_variant","Other","NM_006402.2","NM_006402.2:c.*58T>C",null,"NM_006402.2","4",null,"LAMTOR5","NM_006402.2","mRNA","mRNA","-","NP_006393.2","NP_006393.2","10542","17955","608521","CCDS824.1","09773","ragulator complex protein LAMTOR5",null,"True","A/G/T","rs1161","RS orientation is reversed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","36","SNV","0.9954,0.004593,","True","A/G","rs1161",null,18595,"23","0.00459265",5008,21,1,"1","0.00144092",694,1,0,"0","0",1322,0,0,"3","0.00306748",978,3,0,"19","0.0188867",1006,17,1,"0","0",1008,0,0,"False"]
["1:112298378","T/C",null,"PASS","0.528736","41,46",87,99,"0/1","DDX20,FAM212B","5_prime_UTR_variant","Other","NM_007204.4,NM_198926.2","NM_007204.4:c.-169T>C,NM_198926.2:c.-44A>G",",","NM_198926.2,NM_007204.4","1,1",",","FAM212B,DDX20","NM_198926.2,NM_007204.4","mRNA,mRNA","mRNA,mRNA","-,+","NP_945120.1,NP_009135.4","NP_945120.1,NP_009135.4","55924,11218","28045,2743",",606168","CCDS44195.1,CCDS842.1","14246,","protein FAM212B isoform 2,probable ATP-dependent RNA helicase DDX20",",","True","T/C","rs28372703","Has SubmitterLinkOut,In 5' UTR,In 5' gene region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","125","SNV","0.8554,0.1446","True","T/C","rs28372703","EX_TARGET",15869,"724","0.144569",5008,602,61,"156","0.224784",694,112,22,"118","0.0892587",1322,112,3,"113","0.115542",978,95,9,"155","0.154076",1006,127,14,"182","0.180556",1008,156,13,"False"]
["1:117617705","A/G",null,"PASS","0.522222","43,47",90,99,"0/1","TTF2","missense_variant","Missense","NM_003594.3","NM_003594.3:c.499A>G","NP_003585.3:p.Lys167Glu","NM_003594.3","5","14.2734","TTF2","NM_003594.3","mRNA","mRNA","+","NP_003585.3","NP_003585.3","8458","12398","604718","CCDS892.1","05280","transcription termination factor 2",null,"True","A/G","rs998532","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","86","SNV","0.4854,0.5146","True","A/G","rs998532","EX_TARGET",18261,"2577","0.514577",5008,947,815,"463","0.667147",694,155,154,"153","0.115734",1322,127,13,"590","0.603272",978,224,183,"597","0.593439",1006,253,172,"774","0.767857",1008,188,293,"False"]
["1:120163247","T/C",null,"PASS","0.484277","82,77",159,99,"0/1","ZNF697","3_prime_UTR_variant","Other","NM_001080470.1","NM_001080470.1:c.*2081A>G",null,"NM_001080470.1","3",null,"ZNF697","NM_001080470.1","mRNA","mRNA","-","NP_001073939.1","NP_001073939.1","90874","32034",null,"CCDS44202.1",null,"zinc finger protein 697",null,"True","T/C","rs10737756","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","120","SNV","0.2833,0.7167","True","T/C","rs10737756",null,19373,"3589","0.716653",5008,935,1327,"450","0.648415",694,160,145,"1121","0.847958",1322,163,479,"651","0.665644",978,195,228,"587","0.583499",1006,243,172,"780","0.77381",1008,174,303,"False"]
["1:120934573","C/T",null,"MQ40","0.384615","8,5",13,99,"0/1","FCGR1B","missense_variant","Missense","NM_001017986.3","NM_001017986.3:c.115G>A","NP_001017986.1:p.Val39Ile","NM_001017986.3,NM_001004340.3,NM_001244910.1","3,1,3","13.5231,,16.8889","FCGR1B,FCGR1B,FCGR1B","NM_001017986.3,NM_001004340.3,NM_001244910.1","mRNA,mRNA,mRNA","mRNA,mRNA,mRNA","-,-,-","NP_001017986.1,NP_001004340.2,NP_001231839.1","NP_001017986.1,NP_001004340.2,NP_001231839.1","2210,2210,2210","3614,3614,3614","601502,601502,601502","CCDS72845.1,CCDS72846.1,CCDS72844.1","14225,14225,14225","high affinity immunoglobulin gamma Fc receptor IB isoform 1 precursor,high affinity immunoglobulin gamma Fc receptor IB isoform 2 precursor,high affinity immunoglobulin gamma Fc receptor IB isoform 3 precursor",",,","True","C/T","rs201922049","Has 3D structure,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,1000 Genome phase 1,1000 Genome phase 3","137","SNV","0.8578,0.1422","True","C/T","rs201922049","EX_TARGET",18366,"712","0.142173",5008,550,81,"100","0.144092",694,86,7,"9","0.00680787",1322,9,0,"314","0.321063",978,202,56,"131","0.130219",1006,111,10,"158","0.156746",1008,142,8,"False"]
["1:144851848","G/A",null,"PASS","0.4","3,2",5,48,"0/1","PDE4DIP","3_prime_UTR_variant","Other","NM_001198834.3","NM_001198834.3:c.*506C>T",null,"NM_001198834.3,NM_014644.5,NM_001198832.2","44,44,46",",,","PDE4DIP,PDE4DIP,PDE4DIP","NM_001198834.3,NM_014644.5,NM_001198832.2","mRNA,mRNA,mRNA","mRNA,mRNA,mRNA","-,-,-","NP_001185763.3,NP_055459.5,NP_001185761.2","NP_001185763.3,NP_055459.5,NP_001185761.2","9659,9659,9659","15580,15580,15580","608117,608117,608117","CCDS72892.1,CCDS72891.1,CCDS72888.1",",,","myomegalin isoform 9,myomegalin isoform 1,myomegalin isoform 8",",,","True","G/A","rs1055360","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available","86","SNV",{"$nulls":36},"False"]
["1:144931330","C/T",null,"PASS","0.476923","68,62",130,99,"0/1","PDE4DIP","missense_variant","Missense","NM_001198834.3","NM_001198834.3:c.637-7509G>A",null,"NM_001198834.3,NM_014644.5,NM_001198832.2,NM_001002811.2,NM_001002812.2","6,6,9,1,6",",,,11.1209,","PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP","NM_001198834.3,NM_014644.5,NM_001198832.2,NM_001002811.2,NM_001002812.2","mRNA,mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA,mRNA","-,-,-,-,-","NP_001185763.3,NP_055459.5,NP_001185761.2,NP_001002811.2,NP_001002812.2","NP_001185763.3,NP_055459.5,NP_001185761.2,NP_001002811.2,NP_001002812.2","9659,9659,9659,9659,9659","15580,15580,15580,15580,15580","608117,608117,608117,608117,608117","CCDS72892.1,CCDS72891.1,CCDS72888.1,CCDS72894.1,CCDS72890.1",",,,,","myomegalin isoform 9,myomegalin isoform 1,myomegalin isoform 8,myomegalin isoform 5,myomegalin isoform 2",",,,,","True","C/T","rs2762745","RS orientation is reversed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1","100","SNV",{"$nulls":36},"True","esv3587398;esv3587399,esv3587398;esv3587399","Gain,Gain","<CN2>,<CN3>","DUP_gs,DUP_gs","EX_TARGET,EX_TARGET","31118,31118","4995,13","0.997404,0.00259585","5008,5008","13,13","2491,0","692,2","0.997118,0.00288184","694,694","2,2","345,0","1321,1","0.999244,0.00075643","1322,1322","1,1","660,0","976,2","0.997955,0.00204499","978,978","2,2","487,0","998,8","0.992048,0.00795229","1006,1006","8,8","495,0","1008,0","1,0","1008,1008","0,0","504,0"]
["1:145281633","C/A",null,"PASS","0.0915663","377,38",415,99,"0/1","NOTCH2NL","missense_variant","Missense","NM_203458.4","NM_203458.4:c.563C>A","NP_982283.2:p.Pro188His","NM_203458.4","4","79.0436","NOTCH2NL","NM_203458.4","mRNA","mRNA","+","NP_982283.2","NP_982283.2","388677","31862",null,"CCDS72880.1","14833","notch homolog 2 N-terminal-like protein",null,"True","C/A","rs28576333","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available","125","SNV",{"$nulls":36},"False"]
["1:145282498","A/G",null,"MQRankSum-12.5,QD2","0.135647","274,43",317,99,"0/1","NOTCH2NL","3_prime_UTR_variant","Other","NM_203458.4","NM_203458.4:c.*467A>G",null,"NM_203458.4","5",null,"NOTCH2NL","NM_203458.4","mRNA","mRNA","+","NP_982283.2","NP_982283.2","388677","31862",null,"CCDS72880.1","14833","notch homolog 2 N-terminal-like protein",null,"True","A/C/G/T","rs2691743","RS orientation is reversed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Genotypes available,RS cluster has non-overlapping allele sets","100","SNV",{"$nulls":36},"False"]
["1:148568796","G/C",null,"MQ40,SOR3","0.211538","41,11",52,99,"0/1","NBPF15","5_prime_UTR_variant","Other","NM_173638.4","NM_173638.4:c.-272G>C",null,"NM_001170755.2,NM_173638.4","4,3",",","NBPF15,NBPF15","NM_001170755.2,NM_173638.4","mRNA,mRNA","mRNA,mRNA","+,+","NP_001164226.1,NP_775909.2","NP_001164226.1,NP_775909.2","284565,284565","28791,28791","614005,614005","CCDS72852.1,CCDS72852.1",",","neuroblastoma breakpoint family member 15,neuroblastoma breakpoint family member 15",",","True","G/C","rs201541735","In 5' UTR,Is Assembly specific","137","SNV",{"$nulls":36},"True","esv3587457;esv3587458,esv3587457;esv3587458","Loss,Gain","<CN0>,<CN2>","DUP_gs,DUP_gs",null,"18774,18774","31,15","0.0061901,0.00299521","5008,5008","31,15","0,0","6,1","0.00864553,0.00144092","694,694","6,1","0,0","8,3","0.00605144,0.00226929","1322,1322","8,3","0,0","4,2","0.00408998,0.00204499","978,978","4,2","0,0","7,3","0.00695825,0.00298211","1006,1006","7,3","0,0","6,6","0.00595238,0.00595238","1008,1008","6,6","0,0"]
["1:149982478","C/T",null,"PASS","0.410256","23,16",39,99,"0/1","OTUD7B","5_prime_UTR_variant","Other","NM_020205.3","NM_020205.3:c.-148G>A",null,"NM_020205.3","1",null,"OTUD7B","NM_020205.3","mRNA","mRNA","-","NP_064590.2","NP_064590.2","56957","16683","611748","CCDS72903.1",null,"OTU domain-containing protein 7B",null,"True","C/T","rs115650695","Has SubmitterLinkOut,In 5' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,1000 Genome phase 1,1000 Genome phase 3","132","SNV","0.9724,0.02756","True","C/T","rs115650695",null,10854,"138","0.0275559",5008,122,8,"26","0.037464",694,26,0,"2","0.00151286",1322,2,0,"8","0.00817996",978,8,0,"101","0.100398",1006,85,8,"1","0.000992064",1008,1,0,"False"]
["1:150526044","G/C",null,"PASS","0.370968","78,46",124,99,"0/1","ADAMTSL4","missense_variant","Missense","NM_019032.5","NM_019032.5:c.577G>C","NP_061905.2:p.Ala193Pro","NM_025008.4,NM_001288607.1,NM_019032.5,NM_001288608.1","6,6,6,6","21.8679,18.5328,17.8605,17.4863","ADAMTSL4,ADAMTSL4,ADAMTSL4,ADAMTSL4","NM_025008.4,NM_001288607.1,NM_019032.5,NM_001288608.1","mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA","+,+,+,+","NP_079284.2,NP_001275536.1,NP_061905.2,NP_001275537.1","NP_079284.2,NP_001275536.1,NP_061905.2,NP_001275537.1","54507,54507,54507,54507","19706,19706,19706,19706","610113,610113,610113,610113","CCDS30852.1,,CCDS955.1,CCDS72908.1","18237,18237,18237,18237","ADAMTS-like protein 4 isoform 2 precursor,ADAMTS-like protein 4 isoform 3 precursor,ADAMTS-like protein 4 isoform 1 precursor,ADAMTS-like protein 4 isoform 4 precursor",",,,","True","G/C","rs41317515","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","127","SNV","0.4716,0.5284","True","G/C","rs41317515","EX_TARGET",15288,"2646","0.528355",5008,1178,734,"301","0.433718",694,163,69,"803","0.607413",1322,307,248,"433","0.44274",978,221,106,"537","0.533797",1006,249,144,"572","0.56746",1008,238,167,"False",{"$nulls":36},"G/C","261079","Benign","Benign","Benign (3)","(2 Stars) Criteria Provided, Multiple Submitters, No Conflicts","rs41317515","ADAMTSL4","54507","NC_000001.10:g.150526044G>C","NC_000001.11:g.150553568G>C","NM_019032.5:c.577G>C","NP_061905.2:p.Ala193Pro","RCV000252416,RCV000290467","not specified,Ectopia lentis","Benign,Benign","(2 Stars) Criteria Provided, Multiple Submitters, No Conflicts,(1 Stars) Criteria Provided, Single Submitter","2017-11-20,2016-06-14"]
["1:151503071","G/A",null,"PASS","0.692308","28,63",91,99,"0/1","CGN","missense_variant","Missense","NM_020770.2","NM_020770.2:c.2420G>A","NP_065821.1:p.Arg807Gln","NM_020770.2","13","66.9712","CGN","NM_020770.2","mRNA","mRNA","+","NP_065821.1","NP_065821.1","57530","17429","609473","CCDS999.1","10827","cingulin",null,"True","G/A/C","rs138238589","Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,Marker on high density genotype kit (50K+),1000 Genome phase 1,1000 Genome phase 3","134","SNV","0.9964,0.003594,","True","G/A","rs138238589","EX_TARGET",15583,"18","0.00359425",5008,16,1,"4","0.00576369",694,4,0,"0","0",1322,0,0,"0","0",978,0,0,"14","0.0139165",1006,12,1,"0","0",1008,0,0,"False"]
["1:152692472","A/C",null,"PASS","0.64","45,80",125,99,"0/1","C1orf68","missense_variant","Missense","NM_001024679.2","NM_001024679.2:c.475A>C","NP_001019850.1:p.Thr159Pro","NM_001024679.2","1","62.9482","C1orf68","NM_001024679.2","mRNA","mRNA","+","NP_001019850.1","NP_001019850.1","100129271","29468",null,"CCDS44226.1",null,"skin-specific protein 32",null,"True","A/C","rs873775","RS orientation is reversed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","86","SNV","0.6508,0.3492","True","A/C","rs873775",null,19221,"1749","0.349241",5008,1073,338,"264","0.380403",694,154,55,"722","0.546142",1322,334,194,"227","0.232106",978,183,22,"363","0.360835",1006,253,55,"173","0.171627",1008,149,12,"True","esv3587568","Gain","<CN2>","DUP_gs","EX_TARGET","19639","1","0.000199681","5008","1","0","0","0","694","0","0","0","0","1322","0","0","0","0","978","0","0","1","0.000994036","1006","1","0","0","0","1008","0","0"]
["1:152777964","G/A",null,"PASS","0.641975","58,104",162,99,"0/1","LCE1C","5_prime_UTR_variant","Other","NM_178351.3","NM_178351.3:c.-10C>T",null,"NM_178351.3,NM_001276331.1","2,2",",","LCE1C,LCE1C","NM_178351.3,NM_001276331.1","mRNA,mRNA","mRNA,mRNA","-,-","NP_848128.1,NP_001263260.1","NP_848128.1,NP_001263260.1","353133,353133","29464,29464","612605,612605","CCDS1026.1,",",","late cornified envelope protein 1C isoform 1,late cornified envelope protein 1C isoform 2",",","True","G/A","rs17624493","Has SubmitterLinkOut,In 5' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","123","SNV","0.8403,0.1597","True","G/A","rs17624493",null,14087,"800","0.159744",5008,630,85,"151","0.217579",694,109,21,"93","0.070348",1322,89,2,"160","0.163599",978,150,5,"361","0.358847",1006,247,57,"35","0.0347222",1008,35,0,"False"]
["1:154321663","C/T",null,"PASS","0.636364","40,70",110,99,"0/1","ATP8B2","3_prime_UTR_variant","Other","NM_020452.3","NM_020452.3:c.*69C>T",null,"NM_020452.3","28",null,"ATP8B2","NM_020452.3","mRNA","mRNA","+","NP_065185.1","NP_065185.1","57198","13534","605867","CCDS1066.1","05794","phospholipid-transporting ATPase ID isoform a",null,"True","C/T","rs12729561","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","121","SNV","0.87,0.13","True","C/T","rs12729561",null,18377,"651","0.129992",5008,555,48,"57","0.0821326",694,57,0,"235","0.177761",1322,187,24,"127","0.129857",978,109,9,"138","0.137177",1006,116,11,"94","0.093254",1008,86,4,"False"]
["1:155735012","T/C",null,"PASS","0.443396","59,47",106,99,"0/1","GON4L","missense_variant","Missense","NM_001282856.1","NM_001282856.1:c.4252A>G","NP_001269785.1:p.Met1418Val","NM_001282860.1,NM_001282858.1,NM_001282856.1,NM_032292.5,NM_001282861.1","21,21,21,21,21","63.2025,63.2307,63.2025,92.6144,92.6144","GON4L,GON4L,GON4L,GON4L,GON4L","NM_001282860.1,NM_001282858.1,NM_001282856.1,NM_032292.5,NM_001282861.1","mRNA,mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA,mRNA","-,-,-,-,-","NP_001269789.1,NP_001269787.1,NP_001269785.1,NP_115668.4,NP_001269790.1","NP_001269789.1,NP_001269787.1,NP_001269785.1,NP_115668.4,NP_001269790.1","54856,54856,54856,54856,54856","25973,25973,25973,25973,25973","610393,610393,610393,610393,610393","CCDS60296.1,CCDS44242.1,CCDS60296.1,CCDS1121.1,CCDS1121.1",",,,,","GON-4-like protein isoform c,GON-4-like protein isoform a,GON-4-like protein isoform c,GON-4-like protein isoform b,GON-4-like protein isoform b",",,,,","True","T/C","rs2297775","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","100","SNV","0.6458,0.3542","True","T/C","rs2297775","EX_TARGET",21690,"1774","0.354233",5008,986,394,"226","0.325648",694,134,46,"240","0.181543",1322,210,15,"317","0.324131",978,223,47,"299","0.297217",1006,197,51,"692","0.686508",1008,222,235,"True","esv3587633","Loss","<CN0>","DEL_union","EX_TARGET","17224","1","0.000199681","5008","1","0","0","0","694","0","0","0","0","1322","0","0","0","0","978","0","0","1","0.000994036","1006","1","0","0","0","1008","0","0"]
["1:158066669","G/A",null,"PASS","0.415094","62,44",106,99,"0/1","KIRREL","3_prime_UTR_variant","Other","NM_018240.6","NM_018240.6:c.*1759G>A",null,"NM_001286349.1,NM_018240.6","13,15",",","KIRREL,KIRREL","NM_001286349.1,NM_018240.6","mRNA,mRNA","mRNA,mRNA","+,+","NP_001273278.1,NP_060710.3","NP_001273278.1,NP_060710.3","55243,55243","15734,15734","607428,607428","CCDS72952.1,CCDS1172.2",",","kin of IRRE-like protein 1 isoform 2 precursor,kin of IRRE-like protein 1 isoform 1 precursor",",","True","G/A","rs41273471","Has SubmitterLinkOut,Has reference A coding region,Has synonymous A coding region,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","127","SNV","0.9291,0.07089","True","G/A","rs41273471",null,19277,"355","0.0708866",5008,317,19,"29","0.0417867",694,27,1,"157","0.118759",1322,139,9,"80","0.0817996",978,68,6,"68","0.0675944",1006,64,2,"21","0.0208333",1008,19,1,"False"]
["1:159277868","G/A",null,"PASS","0.306452","43,19",62,99,"0/1","FCER1A","3_prime_UTR_variant","Other","NM_002001.3","NM_002001.3:c.*146G>A",null,"NM_002001.3","7",null,"FCER1A","NM_002001.3","mRNA","mRNA","+","NP_001992.1","NP_001992.1","2205","3609","147140","CCDS1184.1","00917","high affinity immunoglobulin epsilon receptor subunit alpha precursor",null,"True","G/A","rs7549785","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","116","SNV","0.9107,0.08926","True","G/A","rs7549785",null,19865,"447","0.0892572",5008,379,34,"138","0.198847",694,100,19,"26","0.0196672",1322,24,1,"97","0.099182",978,91,3,"162","0.161034",1006,140,11,"24","0.0238095",1008,24,0,"False"]
["1:160851826","A/T",null,"PASS","0.296482","140,59",199,99,"0/1","ITLN1","missense_variant","Missense","NM_017625.2","NM_017625.2:c.326T>A","NP_060095.2:p.Val109Asp","NM_017625.2","4","34.5011","ITLN1","NM_017625.2","mRNA","mRNA","-","NP_060095.2","NP_060095.2","55600","18259","609873","CCDS1211.1","17165","intelectin-1 precursor",null,"True","A/T","rs2274907","Variant is Precious,Links exist to PubMed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","100","SNV","0.4187,0.5813","True","A/T","rs2274907","EX_TARGET",17183,"2911","0.58127",5008,1155,878,"483","0.695965",694,159,162,"433","0.327534",1322,285,74,"614","0.627812",978,236,189,"682","0.677932",1006,248,217,"699","0.693452",1008,227,236,"False"]
["1:161332672","C/G",null,"QD2","0.0862069","53,5",58,47,"0/1","SDHC","3_prime_UTR_variant","Other","NM_003001.3","NM_003001.3:c.*449C>G",null,"NM_001278172.1,NM_001035513.1,NM_001035511.1,NM_001035512.1,NM_003001.3","4,4,5,5,6",",,,,","SDHC,SDHC,SDHC,SDHC,SDHC","NM_001278172.1,NM_001035513.1,NM_001035511.1,NM_001035512.1,NM_003001.3","mRNA,mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA,mRNA","+,+,+,+,+","NP_001265101.1,NP_001030590.1,NP_001030588.1,NP_001030589.1,NP_002992.1","NP_001265101.1,NP_001030590.1,NP_001030588.1,NP_001030589.1,NP_002992.1","6391,6391,6391,6391,6391","10682,10682,10682,10682,10682","602413,602413,602413,602413,602413","CCDS60330.1,CCDS41432.1,CCDS41431.1,CCDS44263.1,CCDS1230.1",",,,,","succinate dehydrogenase cytochrome b560 subunit, mitochondrial isoform 5 precursor,succinate dehydrogenase cytochrome b560 subunit, mitochondrial isoform 4 precursor,succinate dehydrogenase cytochrome b560 subunit, mitochondrial isoform 2 precursor,succinate dehydrogenase cytochrome b560 subunit, mitochondrial isoform 3 precursor,succinate dehydrogenase cytochrome b560 subunit, mitochondrial isoform 1 precursor",",,,,LRG_317t1","True","C/G","rs796803737","In 3' UTR,Is Assembly specific","146","SNV",{"$nulls":36},"False"]
["1:162039835","G/A",null,"PASS","0.457143","19,16",35,99,"0/1","NOS1AP","5_prime_UTR_variant","Other","NM_014697.2","NM_014697.2:c.-133G>A",null,"NM_014697.2,NM_001164757.1","1,1",",","NOS1AP,NOS1AP","NM_014697.2,NM_001164757.1","mRNA,mRNA","mRNA,mRNA","+,+","NP_055512.1,NP_001158229.1","NP_055512.1,NP_001158229.1","9722,9722","16859,16859","605551,605551","CCDS1237.1,CCDS53421.1",",","carboxyl-terminal PDZ ligand of neuronal nitric oxide synthase protein isoform 1,carboxyl-terminal PDZ ligand of neuronal nitric oxide synthase protein isoform 3",",","True","G/A","rs757132488","In 5' UTR,Is Assembly specific","144","SNV",{"$nulls":36},"False"]
["1:165370400","G/C",null,"PASS","0.4","45,30",75,99,"0/1","RXRG","3_prime_UTR_variant","Other","NM_006917.4","NM_006917.4:c.*100C>G",null,"NM_001256571.1,NM_001256570.1,NM_006917.4","9,11,10",",,","RXRG,RXRG,RXRG","NM_001256571.1,NM_001256570.1,NM_006917.4","mRNA,mRNA,mRNA","mRNA,mRNA,mRNA","-,-,-","NP_001243500.1,NP_001243499.1,NP_008848.1","NP_001243500.1,NP_001243499.1,NP_008848.1","6258,6258,6258","10479,10479,10479","180247,180247,180247","CCDS72970.1,CCDS72970.1,CCDS1248.1",",,","retinoic acid receptor RXR-gamma isoform c,retinoic acid receptor RXR-gamma isoform c,retinoic acid receptor RXR-gamma isoform a",",,","True","G/C","rs56362364","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),1000 Genome phase 1,1000 Genome phase 3","129","SNV","0.9157,0.08427","True","G/C","rs56362364",null,14846,"422","0.0842652",5008,364,29,"89","0.128242",694,77,6,"112","0.0847201",1322,100,6,"35","0.0357873",978,33,1,"185","0.183897",1006,153,16,"1","0.000992064",1008,1,0,"False"]
["1:168511321","C/T",null,"PASS","0.365079","40,23",63,99,"0/1","XCL2","missense_variant","Missense","NM_003175.3","NM_003175.3:c.86G>A","NP_003166.1:p.Arg29Lys","NM_003175.3","2","24.6377","XCL2","NM_003175.3","mRNA","mRNA","-","NP_003166.1","NP_003166.1","6846","10646","604828","CCDS1273.1","05317","cytokine SCM-1 beta precursor",null,"True","C/T","rs4501820","Has 3D structure,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","111","SNV","0.8804,0.1196","True","C/T","rs4501820","EX_TARGET",12017,"599","0.119609",5008,161,219,"111","0.159942",694,33,39,"16","0.0121029",1322,14,1,"80","0.0817996",978,32,24,"64","0.0636183",1006,36,14,"328","0.325397",1008,46,141,"False"]
["1:179526214","C/T",null,"PASS","0.4375","72,56",128,99,"0/1","NPHS2","missense_variant","Missense","NM_014625.3","NM_014625.3:c.686G>A","NP_055440.1:p.Arg229Gln","NM_001297575.1,NM_014625.3","5,5",",59.4618","NPHS2,NPHS2","NM_001297575.1,NM_014625.3","mRNA,mRNA","mRNA,mRNA","-,-","NP_001284504.1,NP_055440.1","NP_001284504.1,NP_055440.1","7827,7827","13394,13394","604766,604766","CCDS72988.1,CCDS1331.1","05303,05303","podocin isoform 2,podocin isoform 1",",LRG_887t1","True","C/T","rs61747728","Variant is Precious,Links exist to PubMed,Has 3D structure,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,In Intron,Is Assembly specific,Is Validated,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3,Submitted from a locus-specific database,Has OMIM/OMIA","129","SNV","0.9854,0.01458","True","C/T","rs61747728","EX_TARGET",20498,"73","0.0145767",5008,67,3,"9","0.0129683",694,9,0,"4","0.00302572",1322,4,0,"18","0.0184049",978,18,0,"42","0.0417495",1006,36,3,"0","0",1008,0,0,"False",{"$nulls":36},"C/T","5370","Conflicting","Conflicting Interpretations Of Pathogenicity, Risk Factor","Likely Pathogenic(1),Pathogenic(2),Uncertain Significance(2)","(1 Star) Criteria Provided, Conflicting Interpretations","rs61747728","NPHS2","7827","NC_000001.10:g.179526214C>T","NC_000001.11:g.179557079C>T","LRG_887t1:c.686G>A","LRG_887p1:p.Arg229Gln","RCV000005701,RCV000157404,RCV000576535,RCV000590501","Nephrotic syndrome, type 2, susceptibility to,Proteinuria,Nephrotic syndrome, idiopathic, steroid-resistant,not provided","Risk Factor,Uncertain Significance,Likely Pathogenic,Conflicting Interpretations Of Pathogenicity","(0 Stars) No Assertion Criteria Provided,(1 Stars) Criteria Provided, Single Submitter,(1 Stars) Criteria Provided, Single Submitter,(1 Star) Criteria Provided, Conflicting Interpretations","2014-03-01,2015-11-11,2016-07-27,2017-06-05"]
["1:179561683","A/T",null,"PASS","0.428571","40,30",70,99,"0/1","TDRD5","5_prime_UTR_variant","Other","NM_001199085.1","NM_001199085.1:c.-14-54A>T",null,"NM_001199091.1,NM_173533.3,NM_001199085.1,NM_001199089.1","2,2,2,2",",,,","TDRD5,TDRD5,TDRD5,TDRD5","NM_001199091.1,NM_173533.3,NM_001199085.1,NM_001199089.1","mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA","+,+,+,+","NP_001186020.1,NP_775804.2,NP_001186014.1,NP_001186018.1","NP_001186020.1,NP_775804.2,NP_001186014.1,NP_001186018.1","163589,163589,163589,163589","20614,20614,20614,20614",",,,","CCDS1332.1,CCDS1332.1,CCDS55663.1,CCDS55663.1",",,,","tudor domain-containing protein 5 isoform 2,tudor domain-containing protein 5 isoform 2,tudor domain-containing protein 5 isoform 1,tudor domain-containing protein 5 isoform 1",",,,","True","A/T","rs4652419","Has SubmitterLinkOut,In 5' UTR,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","111","SNV","0.2252,0.7748","True","A/T","rs4652419",null,18866,"3880","0.77476",5008,842,1519,"578","0.832853",694,84,247,"901","0.681543",1322,297,302,"740","0.756646",978,188,276,"750","0.745527",1006,186,282,"911","0.90377",1008,87,412,"False"]
["1:183213281","G/T",null,"PASS","0.666667","5,10",15,99,"0/1","LAMC2","3_prime_UTR_variant","Other","NM_005562.2","NM_005562.2:c.*746G>T",null,"NM_005562.2","23",null,"LAMC2","NM_005562.2","mRNA","mRNA","+","NP_005553.2","NP_005553.2","3918","6493","150292","CCDS1352.1",null,"laminin subunit gamma-2 isoform a precursor",null,"True","G/T","rs587387","RS orientation is reversed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","83","SNV","0.9788,0.02117","True","G/T","rs587387",null,23459,"106","0.0211661",5008,98,4,"28","0.0403458",694,26,1,"4","0.00302572",1322,4,0,"13","0.0132924",978,13,0,"61","0.0606362",1006,55,3,"0","0",1008,0,0,"False",{"$nulls":36},"G/T","294032","Likely Benign","Likely Benign","Likely benign (1)","(1 Stars) Criteria Provided, Single Submitter","rs587387","LAMC2","3918","NC_000001.10:g.183213281G>T","NC_000001.11:g.183244146G>T","NM_005562.2:c.*746G>T",null,"RCV000374847","Epidermolysis bullosa, junctional","Likely Benign","(1 Stars) Criteria Provided, Single Submitter","2016-06-14"]
["1:197070697","T/C",null,"PASS","0.635135","54,94",148,99,"0/1","ASPM","missense_variant","Missense","NM_018136.4","NM_018136.4:c.7684A>G","NP_060606.3:p.Ser2562Gly","NM_001206846.1,NM_018136.4","18,18",",73.6343","ASPM,ASPM","NM_001206846.1,NM_018136.4","mRNA,mRNA","mRNA,mRNA","-,-","NP_001193775.1,NP_060606.3","NP_001193775.1,NP_060606.3","259266,259266","19048,19048","605481,605481","CCDS55672.1,CCDS1389.1",",","abnormal spindle-like microcephaly-associated protein isoform 2,abnormal spindle-like microcephaly-associated protein isoform 1",",","True","T/C","rs41310927","Variant is Precious,Links exist to PubMed,Has 3D structure,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3,Submitted from a locus-specific database","127","SNV","0.7857,0.2143","True","T/C","rs41310927","EX_TARGET",18944,"1073","0.214257",5008,735,169,"158","0.227666",694,126,16,"57","0.0431165",1322,57,0,"280","0.286299",978,184,48,"413","0.410537",1006,241,86,"165","0.16369",1008,127,19,"False",{"$nulls":36},"T/C","21605","Benign","Benign","Benign (6)","(2 Stars) Criteria Provided, Multiple Submitters, No Conflicts","rs41310927","ASPM","259266","NC_000001.10:g.197070697T>C","NC_000001.11:g.197101567T>C","NM_001206846.1:c.4066-5403A>G",null,"RCV000020795,RCV000145195,RCV000361880,RCV000710084","Primary autosomal recessive microcephaly 5,not specified,Primary Microcephaly, Recessive,not provided","Benign,Benign,Benign,Benign","(0 Stars) No Assertion Criteria Provided,(2 Stars) Criteria Provided, Multiple Submitters, No Conflicts,(1 Stars) Criteria Provided, Single Submitter,(1 Stars) Criteria Provided, Single Submitter","2009-09-01,2013-02-08,2016-06-14,2017-08-02"]
["1:201175274","A/G",null,"PASS","0.681416","36,77",113,99,"0/1","IGFN1","missense_variant","Missense","NM_001164586.1","NM_001164586.1:c.1253A>G","NP_001158058.1:p.Gln418Arg","NM_001164586.1","12","11.2519","IGFN1","NM_001164586.1","mRNA","mRNA","+","NP_001158058.1","NP_001158058.1","91156","24607",null,"CCDS53455.1",null,"immunoglobulin-like and fibronectin type III domain-containing protein 1",null,"True","A/C/G","rs9651057","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","119","SNV","0.6242,,0.3758","True","A/G","rs9651057",null,18973,"1882","0.375799",5008,1044,419,"282","0.40634",694,172,55,"194","0.146747",1322,170,12,"326","0.333333",978,216,55,"485","0.482107",1006,249,118,"595","0.590278",1008,237,179,"False"]
["1:201860626","A/G",null,"PASS","0.661417","43,84",127,99,"0/1","SHISA4","missense_variant","Missense","NM_198149.2","NM_198149.2:c.477A>G","NP_937792.2:p.Ile159Met","NM_198149.2","4","80.1347","SHISA4","NM_198149.2","mRNA","mRNA","+","NP_937792.2","NP_937792.2","149345","27139",null,"CCDS1416.1",null,"protein shisa-4 precursor",null,"True","A/G","rs2250377","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","100","SNV","0.2157,0.7843","True","A/G","rs2250377","EX_TARGET",16314,"3928","0.784345",5008,820,1554,"539","0.776657",694,111,214,"1063","0.804085",1322,225,419,"718","0.734151",978,186,266,"703","0.698807",1006,207,248,"905","0.897817",1008,91,407,"False"]
["1:202887295","G/A",null,"PASS","0.716814","32,81",113,99,"0/1","KLHL12","splice_region_variant","Other","NM_001303051.1","NM_001303051.1:c.681+4C>T",null,"NM_021633.3,NM_001303109.1,NM_001303051.1","4,4,4",",,","KLHL12,KLHL12,KLHL12","NM_021633.3,NM_001303109.1,NM_001303051.1","mRNA,mRNA,mRNA","mRNA,mRNA,mRNA","-,-,-","NP_067646.1,NP_001290038.1,NP_001289980.1","NP_067646.1,NP_001290038.1,NP_001289980.1","59349,59349,59349","19360,19360,19360","614522,614522,614522","CCDS1429.1,,",",,","kelch-like protein 12 isoform 2,kelch-like protein 12 isoform 3,kelch-like protein 12 isoform 1",",,","True","G/A","rs2275734","RS orientation is reversed,Has SubmitterLinkOut,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","100","SNV","0.5617,0.4383","True","G/A","rs2275734","EX_TARGET",22281,"2195","0.438299",5008,1187,504,"351","0.505764",694,189,81,"522","0.394856",1322,300,111,"392","0.400818",978,240,76,"619","0.615308",1006,241,189,"311","0.308532",1008,217,47,"False"]
["1:205633983","C/T",null,"PASS","0.485714","18,17",35,99,"0/1","SLC45A3","5_prime_UTR_premature_start_codon_gain_variant","Missense","NM_033102.2","NM_033102.2:c.-199G>A","NP_149093.1:p.Met1ext-66","NM_033102.2","2",null,"SLC45A3","NM_033102.2","mRNA","mRNA","-","NP_149093.1","NP_149093.1","85414","8642","605097","CCDS1458.1","16312","solute carrier family 45 member 3",null,"True","C/T","rs111407522","Has SubmitterLinkOut,In 5' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","132","SNV","0.9702,0.02975","True","C/T","rs111407522",null,17383,"149","0.0297524",5008,135,7,"22","0.0317003",694,22,0,"103","0.0779123",1322,89,7,"4","0.00408998",978,4,0,"20","0.0198807",1006,20,0,"0","0",1008,0,0,"False"]
["1:206761938","T/C",null,"PASS","0.7","3,7",10,93,"0/1","RASSF5","3_prime_UTR_variant","Other","NM_182663.3","NM_182663.3:c.*1628T>C",null,"NM_182664.3,NM_182663.3,NM_182665.3","5,6,5",",,","RASSF5,RASSF5,RASSF5","NM_182664.3,NM_182663.3,NM_182665.3","mRNA,mRNA,mRNA","mRNA,mRNA,mRNA","+,+,+","NP_872605.1,NP_872604.1,NP_872606.1","NP_872605.1,NP_872604.1,NP_872606.1","83593,83593,83593","17609,17609,17609","607020,607020,607020","CCDS1463.1,CCDS30998.1,CCDS1464.1",",,","ras association domain-containing protein 5 isoform B,ras association domain-containing protein 5 isoform A,ras association domain-containing protein 5 isoform C",",,","True","T/C","rs11589","RS orientation is reversed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","52","SNV","0.7218,0.2782","True","T/C","rs11589",null,18763,"1393","0.278155",5008,993,200,"156","0.224784",694,112,22,"434","0.32829",1322,300,67,"270","0.276074",978,186,42,"278","0.276342",1006,206,36,"255","0.252976",1008,189,33,"False"]
["1:211918244","T/A",null,"PASS","0.684211","42,91",133,99,"0/1","LPGAT1","3_prime_UTR_variant","Other","NM_014873.2","NM_014873.2:c.*4997A>T",null,"NM_001320808.1,NM_014873.2","8,8",",","LPGAT1,LPGAT1","NM_001320808.1,NM_014873.2","mRNA,mRNA","mRNA,mRNA","-,-","NP_001307737.1,NP_055688.1","NP_001307737.1,NP_055688.1","9926,9926","28985,28985","610473,610473","CCDS31018.1,CCDS31018.1",",","acyl-CoA:lysophosphatidylglycerol acyltransferase 1,acyl-CoA:lysophosphatidylglycerol acyltransferase 1",",","True","T/A","rs11119805","Variant is Precious,Links exist to PubMed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3,Microattribution/third-party annotation(TPA:GWAS,PAGE)","120","SNV","0.8431,0.1569","True","T/A","rs11119805",null,17613,"786","0.156949",5008,646,70,"126","0.181556",694,104,11,"124","0.0937973",1322,104,10,"220","0.224949",978,172,24,"131","0.130219",1006,117,7,"185","0.183532",1008,149,18,"True","esv3588735","Gain","<CN2>","DUP_delly","IMPRECISE","14885","1","0.000199681","5008","1","0","0","0","694","0","0","0","0","1322","0","0","0","0","978","0","0","0","0","1006","0","0","1","0.000992064","1008","1","0"]
["1:220960240","C/T",null,"PASS","0.75","3,9",12,81,"0/1","MARC1","5_prime_UTR_variant","Other","NM_022746.3","NM_022746.3:c.-47C>T",null,"NM_022746.3","1",null,"MARC1","NM_022746.3","mRNA","mRNA","+","NP_073583.3","NP_073583.3","64757","26189","614126","CCDS1526.1",null,"mitochondrial amidoxime-reducing component 1 precursor",null,"True","C/T","rs3738176","Has SubmitterLinkOut,In 5' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","107","SNV","0.898,0.102","True","C/T","rs3738176",null,8615,"511","0.102037",5008,421,45,"19","0.0273775",694,19,0,"174","0.131619",1322,150,12,"53","0.0541922",978,45,4,"45","0.0447316",1006,43,1,"220","0.218254",1008,164,28,"False"]
["1:228399482","C/G",null,"PASS","0.605442","58,89",147,99,"0/1","OBSCN","5_prime_UTR_variant","Other","NM_001271223.2","NM_001271223.2:c.-3C>G",null,"NM_052843.3,NM_001271223.2,NM_001098623.2","2,2,2",",,","OBSCN,OBSCN,OBSCN","NM_052843.3,NM_001271223.2,NM_001098623.2","mRNA,mRNA,mRNA","mRNA,mRNA,mRNA","+,+,+","NP_443075.3,NP_001258152.2,NP_001092093.2","NP_443075.3,NP_001258152.2,NP_001092093.2","84033,84033,84033","15719,15719,15719","608616,608616,608616","CCDS1570.2,CCDS59204.1,CCDS58065.1",",,","obscurin isoform a,obscurin isoform IC,obscurin isoform b",",,","True","C/G","rs11804508","Has SubmitterLinkOut,In 5' UTR,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","120","SNV","0.279,0.721","True","C/G","rs11804508","EX_TARGET",13643,"3611","0.721046",5008,979,1316,"446","0.642651",694,160,143,"901","0.681543",1322,291,305,"786","0.803681",978,162,312,"640","0.636183",1006,224,208,"838","0.831349",1008,142,348,"False"]
["1:228412228","G/A",null,"PASS","0.305556","100,44",144,99,"0/1","OBSCN","missense_variant","Missense","NM_001271223.2","NM_001271223.2:c.2998G>A","NP_001258152.2:p.Ala1000Thr","NM_052843.3,NM_001271223.2,NM_001098623.2","9,10,9","13.6988,11.1945,11.3816","OBSCN,OBSCN,OBSCN","NM_052843.3,NM_001271223.2,NM_001098623.2","mRNA,mRNA,mRNA","mRNA,mRNA,mRNA","+,+,+","NP_443075.3,NP_001258152.2,NP_001092093.2","NP_443075.3,NP_001258152.2,NP_001092093.2","84033,84033,84033","15719,15719,15719","608616,608616,608616","CCDS1570.2,CCDS59204.1,CCDS58065.1",",,","obscurin isoform a,obscurin isoform IC,obscurin isoform b",",,","True","G/A","rs1757153","RS orientation is reversed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","89","SNV","0.7159,0.2841","True","G/A","rs1757153","EX_TARGET",17550,"1423","0.284145",5008,981,221,"247","0.355908",694,161,43,"443","0.335098",1322,295,74,"192","0.196319",978,162,15,"364","0.361829",1006,220,72,"177","0.175595",1008,143,17,"False"]
["1:233086456","T/C",null,"PASS","0.664063","43,85",128,99,"0/1","NTPCR","5_prime_UTR_variant","Other","NM_032324.2","NM_032324.2:c.-1T>C",null,"NM_001329453.1,NM_032324.2,NM_001329452.1","1,1,1",",,","NTPCR,NTPCR,NTPCR","NM_001329453.1,NM_032324.2,NM_001329452.1","mRNA,mRNA,mRNA","mRNA,mRNA,mRNA","+,+,+","NP_001316382.1,NP_115700.1,NP_001316381.1","NP_001316382.1,NP_115700.1,NP_001316381.1","84284,84284,84284","28204,28204,28204",",,",",CCDS1597.1,",",,","cancer-related nucleoside-triphosphatase isoform 3,cancer-related nucleoside-triphosphatase isoform 1,cancer-related nucleoside-triphosphatase isoform 2",",,","True","T/A/C/G","rs13381","Has SubmitterLinkOut,In 5' UTR,In 5' gene region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","52","SNV","0.7728,,0.2272,","True","T/C","rs13381","EX_TARGET",12286,"1138","0.227236",5008,874,132,"105","0.151297",694,91,7,"441","0.333585",1322,309,66,"208","0.212679",978,158,25,"200","0.198807",1006,166,17,"184","0.18254",1008,150,17,"False"]
["1:240492734","G/A",null,"PASS","0.46","27,23",50,99,"0/1","FMN2","missense_variant","Missense","NM_020066.4","NM_020066.4:c.4403G>A","NP_064450.3:p.Arg1468His","NM_001348094.1,NM_001305424.1,NM_020066.4","8,11,10","77.5108,85.1959,85.1615","FMN2,FMN2,FMN2","NM_001348094.1,NM_001305424.1,NM_020066.4","mRNA,mRNA,mRNA","mRNA,mRNA,mRNA","+,+,+","NP_001335023.1,NP_001292353.1,NP_064450.3","NP_001335023.1,NP_001292353.1,NP_064450.3","56776,56776,56776","14074,14074,14074","606373,606373,606373",",,CCDS31069.2",",,","formin-2 isoform 3,formin-2 isoform 1,formin-2 isoform 2",",,","True","G/A","rs3795677","Has 3D structure,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","107","SNV","0.6791,0.3209","True","G/A","rs3795677","EX_TARGET",18670,"1607","0.320887",5008,1089,259,"249","0.35879",694,161,44,"447","0.338124",1322,295,76,"300","0.306748",978,206,47,"290","0.28827",1006,206,42,"321","0.318452",1008,221,50,"False"]
["1:247040531","T/C",null,"PASS","0.739394","43,122",165,99,"0/1","AHCTF1","missense_variant","Missense","NM_015446.4","NM_015446.4:c.2761A>G","NP_056261.4:p.Met921Val","NM_015446.4,NM_001323343.1,NM_001323342.1","22,22,22","40.4218,41.1287,40.1853","AHCTF1,AHCTF1,AHCTF1","NM_015446.4,NM_001323343.1,NM_001323342.1","mRNA,mRNA,mRNA","mRNA,mRNA,mRNA","-,-,-","NP_056261.4,NP_001310272.1,NP_001310271.1","NP_056261.4,NP_001310272.1,NP_001310271.1","25909,25909,25909","24618,24618,24618","610853,610853,610853","CCDS1629.2,,",",,","protein ELYS isoform 1,protein ELYS isoform 3,protein ELYS isoform 2",",,","True","T/C","rs147658943","Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,1000 Genome phase 1,1000 Genome phase 3","134","SNV","0.9916,0.008387","True","T/C","rs147658943","EX_TARGET",17148,"42","0.00838658",5008,40,1,"12","0.0172911",694,10,1,"1","0.00075643",1322,1,0,"3","0.00306748",978,3,0,"23","0.0228628",1006,23,0,"3","0.00297619",1008,3,0,"False"]
["1:247614407","G/A",null,"PASS","0.753769","49,150",199,99,"0/1","OR2B11","missense_variant","Missense","NM_001004492.1","NM_001004492.1:c.878C>T","NP_001004492.1:p.Thr293Ile","NM_001004492.1","1","91.9287","OR2B11","NM_001004492.1","mRNA","mRNA","-","NP_001004492.1","NP_001004492.1","127623","31249",null,"CCDS31090.1","14937","olfactory receptor 2B11",null,"True","G/A","rs12065526","Variant is Precious,Links exist to PubMed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","120","SNV","0.8882,0.1118","True","G/A","rs12065526","EX_TARGET",18555,"560","0.111821",5008,472,44,"122","0.175793",694,100,11,"260","0.196672",1322,208,26,"42","0.0429448",978,38,2,"135","0.134195",1006,125,5,"1","0.000992064",1008,1,0,"False"]
["1:248458676","T/C",null,"PASS","0.201389","230,58",288,99,"0/1","OR2T12","missense_variant","Missense","NM_001004692.1","NM_001004692.1:c.205A>G","NP_001004692.1:p.Met69Val","NM_001004692.1","1","21.1838","OR2T12","NM_001004692.1","mRNA","mRNA","-","NP_001004692.1","NP_001004692.1","127064","19592",null,"CCDS31110.1","14951","olfactory receptor 2T12",null,"True","T/A/C/G","rs6678138","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Genotypes available,RS cluster has non-overlapping allele sets","116","SNV",{"$nulls":36},"False"]
["2:3502398","C/T",null,"PASS","0.588235","7,10",17,99,"0/1","ADI1","3_prime_UTR_variant","Other","NM_018269.3","NM_018269.3:c.*336G>A",null,"NM_001306077.1,NM_018269.3","4,4",",","ADI1,ADI1","NM_001306077.1,NM_018269.3","mRNA,mRNA","mRNA,mRNA","-,-","NP_001293006.1,NP_060739.2","NP_001293006.1,NP_060739.2","55256,55256","30576,30576","613400,613400","CCDS77380.1,CCDS1653.1",",","1,2-dihydroxy-3-keto-5-methylthiopentene dioxygenase isoform 2,1,2-dihydroxy-3-keto-5-methylthiopentene dioxygenase isoform 1",",","True","C/T","rs1130165","RS orientation is reversed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","86","SNV","0.6579,0.3421","True","C/T","rs1130165",null,18459,"1713","0.342053",5008,913,400,"219","0.315562",694,155,32,"902","0.6823",1322,290,306,"196","0.200409",978,150,23,"170","0.168986",1006,134,18,"226","0.224206",1008,184,21,"True","esv3589660","Gain","<CN2>","DUP_gs","EX_TARGET","20195","1","0.000199681","5008","1","0","0","0","694","0","0","1","0.00075643","1322","1","0","0","0","978","0","0","0","0","1006","0","0","0","0","1008","0","0"]
["2:9630231","C/T",null,"PASS","0.5125","78,82",160,99,"0/1","ADAM17","3_prime_UTR_variant","Other","NM_003183.5","NM_003183.5:c.*75G>A",null,"NM_003183.5","19",null,"ADAM17","NM_003183.5","mRNA","mRNA","-","NP_003174.3","NP_003174.3","6868","195","603639","CCDS1665.1",null,"disintegrin and metalloproteinase domain-containing protein 17 preproprotein",null,"True","C/T","rs6705408","Variant is Precious,Links exist to PubMed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","116","SNV","0.5393,0.4607","True","C/T","rs6705408",null,19825,"2307","0.460663",5008,989,659,"278","0.400576",694,142,68,"936","0.708018",1322,282,327,"411","0.420245",978,223,94,"588","0.584493",1006,262,163,"94","0.093254",1008,80,7,"False"]
["2:15731859","A/C",null,"PASS","0.428571","16,12",28,99,"0/1","DDX1","5_prime_UTR_variant","Other","NM_004939.2","NM_004939.2:c.-199A>C",null,"NM_004939.2","1",null,"DDX1","NM_004939.2","mRNA","mRNA","+","NP_004930.1","NP_004930.1","1653","2734","601257","CCDS1686.1","03158","ATP-dependent RNA helicase DDX1",null,"True","A/C","rs10153729","Has SubmitterLinkOut,In 5' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","119","SNV","0.2402,0.7598","True","A/C","rs10153729",null,15018,"3805","0.759784",5008,835,1485,"451","0.649856",694,141,155,"1123","0.84947",1322,161,481,"774","0.791411",978,166,304,"581","0.577535",1006,251,165,"876","0.869048",1008,116,380,"False"]
["2:27323198","T/C",null,"PASS","0.5","31,31",62,99,"0/1","CGREF1,KHK","3_prime_UTR_variant","Other","NM_001166240.1,NM_000221.2","NM_001166240.1:c.343-490A>G,NM_000221.2:c.*580T>C",",","NM_000221.2,NM_006488.2,NM_001166240.1,NM_001301324.1","8,8,6,5",",,,","KHK,KHK,CGREF1,CGREF1","NM_000221.2,NM_006488.2,NM_001166240.1,NM_001301324.1","mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA","+,+,-,-","NP_000212.1,NP_006479.1,NP_001159712.1,NP_001288253.1","NP_000212.1,NP_006479.1,NP_001159712.1,NP_001288253.1","3795,3795,10669,10669","6315,6315,16962,16962","614058,614058,606137,606137","CCDS1734.1,CCDS1735.1,CCDS54339.1,",",,,","ketohexokinase isoform a,ketohexokinase isoform b,cell growth regulator with EF hand domain protein 1 isoform b precursor,cell growth regulator with EF hand domain protein 1 isoform d",",,,","True","T/C","rs7573066","Has SubmitterLinkOut,In 3' UTR,In Intron,In 3' gene region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","116","SNV","0.9776,0.02236","True","T/C","rs7573066",null,18909,"112","0.0223642",5008,108,2,"37","0.0533141",694,33,2,"1","0.00075643",1322,1,0,"7","0.00715746",978,7,0,"67","0.0666004",1006,67,0,"0","0",1008,0,0,"True","esv3590133","Loss","<CN0>","DEL_union","EX_TARGET","20610","2","0.000399361","5008","2","0","0","0","694","0","0","0","0","1322","0","0","0","0","978","0","0","2","0.00198807","1006","2","0","0","0","1008","0","0","T/C","335513","Likely Benign","Likely Benign","Likely benign (1)","(1 Stars) Criteria Provided, Single Submitter","rs7573066","KHK,CGREF1","3795,10669","NC_000002.11:g.27323198T>C","NC_000002.12:g.27100330T>C","NM_000221.2:c.*580T>C",null,"RCV000338970","Fructosuria, essential","Likely Benign","(1 Stars) Criteria Provided, Single Submitter","2016-06-14"]
["2:36668395","T/A",null,"PASS","0.540541","51,60",111,99,"0/1","CRIM1","splice_region_variant","Other","NM_016441.2","NM_016441.2:c.506-6T>A",null,"NM_016441.2","3",null,"CRIM1","NM_016441.2","mRNA","mRNA","+","NP_057525.1","NP_057525.1","51232","2359","606189","CCDS1783.1","08392","cysteine-rich motor neuron 1 protein precursor",null,"True","T/A","rs2276673","RS orientation is reversed,Has SubmitterLinkOut,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","100","SNV","0.6997,0.3003","True","T/A","rs2276673","EX_TARGET",20149,"1504","0.300319",5008,952,276,"201","0.289625",694,119,41,"319","0.241301",1322,245,37,"267","0.273006",978,201,33,"150","0.149105",1006,128,11,"567","0.5625",1008,259,154,"False"]
["2:42670398","A/T",null,"PASS","0.540541","34,40",74,99,"0/1","KCNG3","3_prime_UTR_variant","Other","NM_133329.5","NM_133329.5:c.*676T>A",null,"NM_172344.2,NM_133329.5","2,2",",","KCNG3,KCNG3","NM_172344.2,NM_133329.5","mRNA,mRNA","mRNA,mRNA","-,-","NP_758847.1,NP_579875.1","NP_758847.1,NP_579875.1","170850,170850","18306,18306","606767,606767","CCDS42674.1,CCDS1809.1","16232,16232","potassium voltage-gated channel subfamily G member 3 isoform 2,potassium voltage-gated channel subfamily G member 3 isoform 1",",","True","A/T","rs11691584","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","120","SNV","0.6412,0.3588","True","A/T","rs11691584",null,18049,"1797","0.358826",5008,1061,368,"414","0.596542",694,162,126,"374","0.282905",1322,256,59,"389","0.39775",978,215,87,"403","0.400596",1006,249,77,"217","0.215278",1008,179,19,"False"]
["2:46414434","C/A",null,"PASS","0.568627","22,29",51,99,"0/1","PRKCE","3_prime_UTR_variant","Other","NM_005400.2","NM_005400.2:c.*2414C>A",null,"NM_005400.2","15",null,"PRKCE","NM_005400.2","mRNA","mRNA","+","NP_005391.1","NP_005391.1","5581","9401","176975","CCDS1824.1","01500","protein kinase C epsilon type",null,"True","C/A","rs3738893","RS orientation is reversed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","107","SNV","0.9169,0.08307","True","C/A","rs3738893",null,18353,"416","0.0830671",5008,352,32,"36","0.0518732",694,36,0,"110","0.0832073",1322,98,6,"13","0.0132924",978,13,0,"9","0.00894632",1006,9,0,"248","0.246032",1008,196,26,"False"]
["2:54369308","G/A",null,"PASS","0.8","1,4",5,21,"0/1","ACYP2","3_prime_UTR_variant","Other","NM_001320586.1","NM_001320586.1:c.404+3423G>A",null,"NM_001320586.1,NM_001320587.1,NM_001320590.1,NM_001320589.1,NM_138448.3,NM_001320588.1","6,5,4,3,3,3",",,,,,","ACYP2,ACYP2,ACYP2,ACYP2,ACYP2,ACYP2","NM_001320586.1,NM_001320587.1,NM_001320590.1,NM_001320589.1,NM_138448.3,NM_001320588.1","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","+,+,+,+,+,+","NP_001307515.1,NP_001307516.1,NP_001307519.1,NP_001307518.1,NP_612457.1,NP_001307517.1","NP_001307515.1,NP_001307516.1,NP_001307519.1,NP_001307518.1,NP_612457.1,NP_001307517.1","98,98,98,98,98,98","180,180,180,180,180,180","102595,102595,102595,102595,102595,102595","CCDS82452.1,,,,CCDS1850.1,",",,,,,","acylphosphatase-2 isoform 1,acylphosphatase-2 isoform 2,acylphosphatase-2 isoform 6,acylphosphatase-2 isoform 5,acylphosphatase-2 isoform 3,acylphosphatase-2 isoform 4",",,,,,","True","G/A","rs56696975","Has SubmitterLinkOut,In 3' UTR,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,1000 Genome phase 1,1000 Genome phase 3","129","SNV","0.8814,0.1186","True","G/A","rs56696975",null,16297,"594","0.11861",5008,494,50,"63","0.0907781",694,61,1,"65","0.0491679",1322,65,0,"114","0.116564",978,102,6,"57","0.05666",1006,55,1,"295","0.292659",1008,211,42,"False"]
["2:65216743","C/T",null,"PASS","0.521277","45,49",94,99,"0/1","SLC1A4","5_prime_UTR_variant","Other","NM_003038.4","NM_003038.4:c.-35C>T",null,"NM_001193493.1,NM_003038.4","1,1",",","SLC1A4,SLC1A4","NM_001193493.1,NM_003038.4","mRNA,mRNA","mRNA,mRNA","+,+","NP_001180422.1,NP_003029.2","NP_001180422.1,NP_003029.2","6509,6509","10942,10942","600229,600229","CCDS54362.1,CCDS1879.1","02576,02576","neutral amino acid transporter A isoform 2 precursor,neutral amino acid transporter A isoform 1",",","True","C/T","rs77796333","Has SubmitterLinkOut,In 5' UTR,In Intron,Is Assembly specific,Is Validated,Marker on high density genotype kit (50K+),1000 Genome phase 1,1000 Genome phase 3","132","SNV","0.9854,0.01458","True","C/T","rs77796333","EX_TARGET",10821,"73","0.0145767",5008,69,2,"19","0.0273775",694,19,0,"3","0.00226929",1322,3,0,"2","0.00204499",978,2,0,"49","0.0487078",1006,45,2,"0","0",1008,0,0,"False"]
["2:69691602","C/A",null,"PASS","0.607143","55,85",140,99,"0/1","AAK1","3_prime_UTR_variant","Other","NM_014911.3","NM_014911.3:c.*11399G>T",null,"NM_014911.3","22",null,"AAK1","NM_014911.3","mRNA","mRNA","-","NP_055726.3","NP_055726.3","22848","19679","616405","CCDS1893.2",null,"AP2-associated protein kinase 1",null,"True","C/A","rs55902961","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","129","SNV","0.6673,0.3327","True","C/A","rs55902961",null,20824,"1666","0.332668",5008,1084,291,"276","0.397695",694,164,56,"341","0.257942",1322,263,39,"393","0.40184",978,233,80,"437","0.434394",1006,257,90,"219","0.217262",1008,167,26,"False"]
["2:71215025","G/A",null,"PASS","0.646465","35,64",99,99,"0/1","TEX261","3_prime_UTR_variant","Other","NM_144582.2","NM_144582.2:c.*705C>T",null,"NM_144582.2","6",null,"TEX261","NM_144582.2","mRNA","mRNA","-","NP_653183.2","NP_653183.2","113419","30712",null,"CCDS1914.1","15491","protein TEX261",null,"True","G/A","rs11556871","RS orientation is reversed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","120","SNV","0.8524,0.1476","True","G/A","rs11556871",null,17256,"739","0.147564",5008,601,69,"89","0.128242",694,71,9,"173","0.130862",1322,163,5,"87","0.0889571",978,75,6,"229","0.227634",1006,171,29,"161","0.159722",1008,121,20,"False"]
["2:73301687","G/A",null,"PASS","0.531646","37,42",79,99,"0/1","RAB11FIP5","3_prime_UTR_variant","Other","NM_015470.2","NM_015470.2:c.*962C>T",null,"NM_015470.2","5",null,"RAB11FIP5","NM_015470.2","mRNA","mRNA","-","NP_056285.1","NP_056285.1","26056","24845","605536","CCDS1923.1","16117","rab11 family-interacting protein 5",null,"True","G/A","rs1046186","RS orientation is reversed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","86","SNV","0.6058,0.3942","True","G/A","rs1046186",null,18634,"1974","0.394169",5008,1080,447,"197","0.283862",694,135,31,"717","0.54236",1322,311,203,"276","0.282209",978,212,32,"221","0.219682",1006,181,20,"563","0.558532",1008,241,161,"False"]
["2:75907351","T/C",null,"PASS","0.524887","105,116",221,99,"0/1","GCFC2","missense_variant","Missense","NM_003203.4","NM_003203.4:c.1780A>G","NP_003194.3:p.Thr594Ala","NM_001201334.1,NM_003203.4","12,12","69.168,75.8312","GCFC2,GCFC2","NM_001201334.1,NM_003203.4","mRNA,mRNA","mRNA,mRNA","-,-","NP_001188263.1,NP_003194.3","NP_001188263.1,NP_003194.3","6936,6936","1317,1317","189901,189901",",CCDS1961.1",",","GC-rich sequence DNA-binding factor 2 isoform 2,GC-rich sequence DNA-binding factor 2 isoform 1",",","True","T/C","rs6722682","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","116","SNV","0.7959,0.2041","True","T/C","rs6722682","EX_TARGET",17008,"1022","0.204073",5008,594,214,"57","0.0821326",694,53,2,"696","0.526475",1322,292,202,"58","0.0593047",978,54,2,"131","0.130219",1006,121,5,"80","0.0793651",1008,74,3,"True","esv3591303","Gain","<CN2>","DUP_delly","IMPRECISE,EX_TARGET","15322","1","0.000199681","5008","1","0","0","0","694","0","0","0","0","1322","0","0","0","0","978","0","0","0","0","1006","0","0","1","0.000992064","1008","1","0"]
["2:85981761","T/C",null,"PASS","0.584158","42,59",101,99,"0/1","ATOH8","missense_variant","Missense","NM_032827.6","NM_032827.6:c.449T>C","NP_116216.2:p.Leu150Pro","NM_032827.6","1","46.3768","ATOH8","NM_032827.6","mRNA","mRNA","+","NP_116216.2","NP_116216.2","84913","24126",null,"CCDS1985.1",null,"protein atonal homolog 8",null,"True","T/A/C","rs17851881","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","123","SNV","0.4289,,0.5711","True","T/C","rs17851881","EX_TARGET",10130,"2860","0.571086",5008,1148,856,"443","0.638329",694,167,138,"629","0.475794",1322,319,155,"427","0.436605",978,229,99,"613","0.609344",1006,239,187,"748","0.742063",1008,194,277,"False"]
["2:96525652","T/C",null,"PASS","0.689371","301,668",969,99,"0/1","ANKRD36C","missense_variant","Missense","NM_001310154.1","NM_001310154.1:c.4951A>G","NP_001297083.1:p.Lys1651Glu","NM_001310154.1","82","76.9231","ANKRD36C","NM_001310154.1","mRNA","mRNA","-","NP_001297083.1","NP_001297083.1","400986","32946",{"$nulls":3},"ankyrin repeat domain-containing protein 36C",null,"True","T/C","rs77710257","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available","131","SNV",{"$nulls":36},"True","esv3591674","Gain","<CN2>","DUP_gs","EX_TARGET","17331","1","0.000199681","5008","1","0","0","0","694","0","0","0","0","1322","0","0","0","0","978","0","0","0","0","1006","0","0","1","0.000992064","1008","1","0"]
["2:96610413","C/T",null,"MQRankSum-12.5","0.16129","156,30",186,99,"0/1","ANKRD36C","missense_variant","Missense","NM_001310154.1","NM_001310154.1:c.1453G>A","NP_001297083.1:p.Glu485Lys","NM_001310154.1","19","22.5641","ANKRD36C","NM_001310154.1","mRNA","mRNA","-","NP_001297083.1","NP_001297083.1","400986","32946",{"$nulls":3},"ankyrin repeat domain-containing protein 36C",null,"True","C/G/T","rs74491979","Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Genotypes available","131","SNV",{"$nulls":36},"False"]
["2:96850885","T/C",null,"PASS","0.634921","23,40",63,99,"0/1","STARD7","3_prime_UTR_variant","Other","NM_020151.3","NM_020151.3:c.*1583A>G",null,"NM_020151.3","8",null,"STARD7","NM_020151.3","mRNA","mRNA","-","NP_064536.2","NP_064536.2","56910","18063","616712","CCDS2017.2",null,"stAR-related lipid transfer protein 7, mitochondrial precursor",null,"True","T/C","rs4826","RS orientation is reversed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","52","SNV","0.8658,0.1342","True","T/C","rs4826",null,21425,"672","0.134185",5008,568,52,"99","0.142651",694,85,7,"71","0.0537065",1322,67,2,"234","0.239264",978,192,21,"181","0.17992",1006,145,18,"87","0.0863095",1008,79,4,"False"]
["2:97833468","G/A",null,"PASS","0.141914","260,43",303,99,"0/1","ANKRD36","missense_variant","Missense","NM_001164315.1","NM_001164315.1:c.1597G>A","NP_001157787.1:p.Ala533Thr","NM_001164315.1","22","27.3944","ANKRD36","NM_001164315.1","mRNA","mRNA","+","NP_001157787.1","NP_001157787.1","375248","24079",null,"CCDS54379.1",null,"ankyrin repeat domain-containing protein 36A",null,"True","G/A","rs71209863","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,In 5' UTR,Is Assembly specific,Is Validated,Genotypes available","130","SNV",{"$nulls":36},"True","esv3591699","Loss","<CN0>","DEL_union","EX_TARGET","18467","44","0.00878594","5008","44","0","28","0.0403458","694","28","0","1","0.00075643","1322","1","0","13","0.0132924","978","13","0","1","0.000994036","1006","1","0","1","0.000992064","1008","1","0"]
["2:98273290","C/T",null,"PASS","0.55814","19,24",43,99,"0/1","ACTR1B","3_prime_UTR_variant","Other","NM_005735.3","NM_005735.3:c.*31G>A",null,"NM_005735.3","11",null,"ACTR1B","NM_005735.3","mRNA","mRNA","-","NP_005726.1","NP_005726.1","10120","168","605144","CCDS2033.1","05508","beta-centractin",null,"True","C/A/G/T","rs11547232","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","120","SNV","0.6985,,,0.3015","True","C/T","rs11547232",null,17621,"1510","0.301518",5008,838,336,"289","0.416427",694,167,61,"146","0.110439",1322,124,11,"188","0.192229",978,148,20,"645","0.641153",1006,219,213,"242","0.240079",1008,180,31,"True","esv3591717","Gain","<CN2>","DUP_gs","EX_TARGET","12977","1","0.000199681","5008","1","0","0","0","694","0","0","0","0","1322","0","0","0","0","978","0","0","1","0.000994036","1006","1","0","0","0","1008","0","0"]
["2:101014363","C/T",null,"PASS","0.452632","52,43",95,99,"0/1","CHST10","splice_region_variant","Other","NM_004854.4","NM_004854.4:c.427+7G>A",null,"NM_004854.4","5",null,"CHST10","NM_004854.4","mRNA","mRNA","-","NP_004845.1","NP_004845.1","9486","19650","606376","CCDS2047.1","07332","carbohydrate sulfotransferase 10 precursor",null,"True","C/T","rs2241809","RS orientation is reversed,Has SubmitterLinkOut,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","98","SNV","0.633,0.367","True","C/T","rs2241809",null,17948,"1838","0.367013",5008,878,480,"312","0.449568",694,170,71,"41","0.0310136",1322,39,1,"280","0.286299",978,210,35,"490","0.487078",1006,268,111,"715","0.709325",1008,191,262,"False"]
["2:107040564","C/T",null,"PASS","0.512397","59,62",121,99,"0/1","RGPD3","missense_variant","Missense","NM_001144013.1","NM_001144013.1:c.3859G>A","NP_001137485.1:p.Glu1287Lys","NM_001144013.1","20","73.1097","RGPD3","NM_001144013.1","mRNA","mRNA","-","NP_001137485.1","NP_001137485.1","653489","32416","612706","CCDS46379.1",null,"ranBP2-like and GRIP domain-containing protein 3",null,"True","C/T","rs3898279","RS orientation is reversed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),1000 Genome phase 1,1000 Genome phase 3","111","SNV","0.8574,0.1426","True","C/T","rs55993306","EX_TARGET",15360,"714","0.142572",5008,442,136,"76","0.10951",694,48,14,"135","0.102118",1322,87,24,"206","0.210634",978,148,29,"224","0.222664",1006,130,47,"73","0.0724206",1008,29,22,"True","esv3591865","Loss","<CN0>","DEL_union","EX_TARGET","12728","2","0.000399361","5008","2","0","0","0","694","0","0","0","0","1322","0","0","0","0","978","0","0","1","0.000994036","1006","1","0","1","0.000992064","1008","1","0"]
["2:111887754","T/G",null,"PASS","0.655172","10,19",29,99,"0/1","BCL2L11","missense_variant","Missense","NM_001204108.1","NM_001204108.1:c.394+6038T>G",null,"NM_001204113.1,NM_207003.2,NM_138627.3,NM_001204110.1,NM_001204106.1,NM_138622.3,NM_138624.3,NM_138625.3,NM_001204107.1,NM_138623.3,NM_006538.4,NM_001204112.1,NM_001204111.1,NM_001204108.1,NM_138621.4,NM_001204109.1,NM_138626.3","3,2,2,2,2,2,2,3,2,3,3,3,3,2,2,2,2",",,,,,,,74.1228,,,,,,,,,","BCL2L11,BCL2L11,BCL2L11,BCL2L11,BCL2L11,BCL2L11,BCL2L11,BCL2L11,BCL2L11,BCL2L11,BCL2L11,BCL2L11,BCL2L11,BCL2L11,BCL2L11,BCL2L11,BCL2L11","NM_001204113.1,NM_207003.2,NM_138627.3,NM_001204110.1,NM_001204106.1,NM_138622.3,NM_138624.3,NM_138625.3,NM_001204107.1,NM_138623.3,NM_006538.4,NM_001204112.1,NM_001204111.1,NM_001204108.1,NM_138621.4,NM_001204109.1,NM_138626.3","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","+,+,+,+,+,+,+,+,+,+,+,+,+,+,+,+,+","NP_001191042.1,NP_996886.1,NP_619533.1,NP_001191039.1,NP_001191035.1,NP_619528.1,NP_619530.1,NP_619531.1,NP_001191036.1,NP_619529.1,NP_006529.1,NP_001191041.1,NP_001191040.1,NP_001191037.1,NP_619527.1,NP_001191038.1,NP_619532.1","NP_001191042.1,NP_996886.1,NP_619533.1,NP_001191039.1,NP_001191035.1,NP_619528.1,NP_619530.1,NP_619531.1,NP_001191036.1,NP_619529.1,NP_006529.1,NP_001191041.1,NP_001191040.1,NP_001191037.1,NP_619527.1,NP_001191038.1,NP_619532.1","10018,10018,10018,10018,10018,10018,10018,10018,10018,10018,10018,10018,10018,10018,10018,10018,10018","994,994,994,994,994,994,994,994,994,994,994,994,994,994,994,994,994","603827,603827,603827,603827,603827,603827,603827,603827,603827,603827,603827,603827,603827,603827,603827,603827,603827","CCDS74559.1,,,CCDS56133.1,,CCDS74560.1,CCDS56134.1,,CCDS56132.1,,CCDS42731.1,CCDS56131.1,,CCDS56135.1,CCDS2089.1,CCDS56136.1,CCDS74561.1","04828,04828,04828,04828,04828,04828,04828,04828,04828,04828,04828,04828,04828,04828,04828,04828,04828","bcl-2-like protein 11 isoform 18,bcl-2-like protein 11 isoform 10,bcl-2-like protein 11 isoform 8,bcl-2-like protein 11 isoform 15,bcl-2-like protein 11 isoform 11,bcl-2-like protein 11 isoform 2,bcl-2-like protein 11 isoform 4,bcl-2-like protein 11 isoform 5,bcl-2-like protein 11 isoform 12,bcl-2-like protein 11 isoform 3,bcl-2-like protein 11 isoform 6,bcl-2-like protein 11 isoform 17,bcl-2-like protein 11 isoform 16,bcl-2-like protein 11 isoform 13,bcl-2-like protein 11 isoform 1,bcl-2-like protein 11 isoform 14,bcl-2-like protein 11 isoform 7","LRG_620t3,,,,,,,LRG_620t4,LRG_620t1,,,,,LRG_620t2,,,","True","T/G","rs113135335","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","132","SNV","0.9485,0.05152","True","T/G","rs113135335",null,15450,"258","0.0515176",5008,236,11,"40","0.0576369",694,38,1,"74","0.0559758",1322,70,2,"26","0.0265849",978,24,1,"118","0.117296",1006,104,7,"0","0",1008,0,0,"False"]
["2:114386172","A/G",null,"MQ40","0.212766","37,10",47,99,"0/1","RABL2A","5_prime_UTR_variant","Other","NM_001306160.1","NM_001306160.1:c.-12A>G",null,"NM_007082.4,NM_013412.3,NM_001306161.1,NM_001306159.1,NM_001306158.1,NM_001306160.1","2,2,2,2,2,1",",,,,,","RABL2A,RABL2A,RABL2A,RABL2A,RABL2A,RABL2A","NM_007082.4,NM_013412.3,NM_001306161.1,NM_001306159.1,NM_001306158.1,NM_001306160.1","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","+,+,+,+,+,+","NP_009013.1,NP_038198.1,NP_001293090.1,NP_001293088.1,NP_001293087.1,NP_001293089.1","NP_009013.1,NP_038198.1,NP_001293090.1,NP_001293088.1,NP_001293087.1,NP_001293089.1","11159,11159,11159,11159,11159,11159","9799,9799,9799,9799,9799,9799","605412,605412,605412,605412,605412,605412","CCDS2118.1,CCDS2118.1,CCDS77456.1,CCDS77454.1,CCDS77454.1,CCDS77455.1",",,,,,","rab-like protein 2A isoform 1,rab-like protein 2A isoform 1,rab-like protein 2A isoform 4,rab-like protein 2A isoform 2,rab-like protein 2A isoform 2,rab-like protein 2A isoform 3",",,,,,","True","A/G","rs1665303","RS orientation is reversed,Has SubmitterLinkOut,In 5' UTR,In 5' gene region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations","89","SNV",{"$nulls":36},"True","esv3592016","Gain","<CN2>","DUP_delly","IMPRECISE,EX_TARGET","9527","1","0.000199681","5008","1","0","0","0","694","0","0","0","0","1322","0","0","1","0.00102249","978","1","0","0","0","1006","0","0","0","0","1008","0","0"]
["2:128604232","A/T",null,"PASS","0.642857","5,9",14,99,"0/1","POLR2D","3_prime_UTR_variant","Other","NM_004805.3","NM_004805.3:c.*1449T>A",null,"NM_004805.3","4",null,"POLR2D","NM_004805.3","mRNA","mRNA","-","NP_004796.1","NP_004796.1","5433","9191","606017","CCDS2151.1","16191","DNA-directed RNA polymerase II subunit RPB4",null,"True","A/T","rs1061056","RS orientation is reversed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","86","SNV","0.6368,0.3632","True","A/T","rs1061056",null,17320,"1819","0.363219",5008,905,457,"276","0.397695",694,152,62,"110","0.0832073",1322,100,5,"693","0.708589",978,195,249,"414","0.411531",1006,230,92,"326","0.323413",1008,228,49,"False"]
["2:133076206","C/T",null,"PASS","0.558621","128,162",290,99,"0/1","ZNF806","missense_variant","Missense","NM_001304449.1","NM_001304449.1:c.1667C>T","NP_001291378.1:p.Ala556Val","NM_001304449.1","4","94.1243","ZNF806","NM_001304449.1","mRNA","mRNA","+","NP_001291378.1","NP_001291378.1","646915","33228",{"$nulls":3},"zinc finger protein 806",null,"True","C/T","rs2598807","RS orientation is reversed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,Genotypes available","100","SNV",{"$nulls":36},"False"]
["2:148687061","A/T",null,"PASS","0.533333","21,24",45,99,"0/1","ACVR2A","3_prime_UTR_variant","Other","NM_001616.4","NM_001616.4:c.*2218A>T",null,"NM_001278580.1,NM_001278579.1,NM_001616.4","11,12,11",",,","ACVR2A,ACVR2A,ACVR2A","NM_001278580.1,NM_001278579.1,NM_001616.4","mRNA,mRNA,mRNA","mRNA,mRNA,mRNA","+,+,+","NP_001265509.1,NP_001265508.1,NP_001607.1","NP_001265509.1,NP_001265508.1,NP_001607.1","92,92,92","173,173,173","102581,102581,102581","CCDS63030.1,CCDS33301.1,CCDS33301.1",",,","activin receptor type-2A isoform 2,activin receptor type-2A isoform 1 precursor,activin receptor type-2A isoform 1 precursor",",,","True","A/T","rs13430086","Variant is Precious,Links exist to PubMed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","121","SNV","0.6993,0.3007","True","A/T","rs13430086",null,14233,"1506","0.300719",5008,900,303,"202","0.291066",694,152,25,"48","0.0363086",1322,44,2,"494","0.505112",978,236,129,"353","0.350895",1006,223,65,"409","0.405754",1008,245,82,"False"]
["2:152659624","G/T",null,"PASS","0.593909","80,117",197,99,"0/1","ARL5A","3_prime_UTR_variant","Other","NM_012097.3","NM_012097.3:c.*166C>A",null,"NM_001037174.1,NM_012097.3,NM_177985.2","6,6,6",",,","ARL5A,ARL5A,ARL5A","NM_001037174.1,NM_012097.3,NM_177985.2","mRNA,mRNA,mRNA","mRNA,mRNA,mRNA","-,-,-","NP_001032251.1,NP_036229.1,NP_817114.2","NP_001032251.1,NP_036229.1,NP_817114.2","26225,26225,26225","696,696,696","608960,608960,608960","CCDS46425.1,CCDS2195.1,CCDS46425.1","12343,12343,12343","ADP-ribosylation factor-like protein 5A isoform 2,ADP-ribosylation factor-like protein 5A isoform 1,ADP-ribosylation factor-like protein 5A isoform 2",",,","True","G/T","rs149953668","RS orientation is reversed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,1000 Genome phase 1,1000 Genome phase 3","134","SNV","0.9882,0.01178","True","G/T","rs149953668",null,16527,"59","0.0117812",5008,59,0,"2","0.00288184",694,2,0,"6","0.00453858",1322,6,0,"25","0.0255624",978,25,0,"19","0.0188867",1006,19,0,"7","0.00694444",1008,7,0,"True","esv3592922","Loss","<CN0>","DEL_union","EX_TARGET","16415","1","0.000199681","5008","1","0","0","0","694","0","0","1","0.00075643","1322","1","0","0","0","978","0","0","0","0","1006","0","0","0","0","1008","0","0"]
["2:160569020","T/G",null,"PASS","0.533333","7,8",15,99,"0/1","MARCH7","5_prime_UTR_variant","Other","NM_022826.3","NM_022826.3:c.-112T>G",null,"NM_001282806.1,NM_001282805.1,NM_022826.3","1,1,1",",,","MARCH7,MARCH7,MARCH7","NM_001282806.1,NM_001282805.1,NM_022826.3","mRNA,mRNA,mRNA","mRNA,mRNA,mRNA","+,+,+","NP_001269735.1,NP_001269734.1,NP_073737.1","NP_001269735.1,NP_001269734.1,NP_073737.1","64844,64844,64844","17393,17393,17393","613334,613334,613334","CCDS63038.1,CCDS2210.1,CCDS2210.1",",,","E3 ubiquitin-protein ligase MARCH7 isoform b,E3 ubiquitin-protein ligase MARCH7 isoform a,E3 ubiquitin-protein ligase MARCH7 isoform a",",,","True","T/G","rs28365982","Has SubmitterLinkOut,In 5' UTR,In 5' gene region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","125","SNV","0.9501,0.04992","True","T/G","rs28365982",null,12878,"250","0.0499201",5008,234,8,"31","0.0446686",694,31,0,"16","0.0121029",1322,16,0,"42","0.0429448",978,40,1,"24","0.0238569",1006,24,0,"137","0.135913",1008,123,7,"False"]
["2:169779896","T/C",null,"PASS","0.428571","4,3",7,96,"0/1","ABCB11","3_prime_UTR_variant","Other","NM_003742.2","NM_003742.2:c.*236A>G",null,"NM_003742.2","28",null,"ABCB11","NM_003742.2","mRNA","mRNA","-","NP_003733.2","NP_003733.2","8647","42","603201","CCDS46444.1","04436","bile salt export pump",null,"True","T/A/C/G","rs473351","RS orientation is reversed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","83","SNV","0.2708,,0.7292,","True","T/C","rs473351",null,19142,"3652","0.729233",5008,892,1380,"429","0.618156",694,159,135,"935","0.707262",1322,279,328,"785","0.802658",978,153,316,"551","0.547714",1006,245,153,"952","0.944444",1008,56,448,"False",{"$nulls":36},"T/C","332018","Benign","Benign","Benign (1)","(1 Stars) Criteria Provided, Single Submitter","rs473351","ABCB11","8647","NC_000002.11:g.169779896T>C","NC_000002.12:g.168923386T>C","LRG_1199t1:c.*236A>G",null,"RCV000304818","Familial Intrahepatic Cholestasis","Benign","(1 Stars) Criteria Provided, Single Submitter","2016-06-14"]
["2:173339808","G/A",null,"PASS","0.32","85,40",125,99,"0/1","ITGA6","missense_variant","Missense","NM_000210.3","NM_000210.3:c.1138G>A","NP_000201.2:p.Ala380Thr","NM_001316306.1,NM_000210.3,NM_001079818.2","7,7,7","27.2251,35.2886,34.707","ITGA6,ITGA6,ITGA6","NM_001316306.1,NM_000210.3,NM_001079818.2","mRNA,mRNA,mRNA","mRNA,mRNA,mRNA","+,+,+","NP_001303235.1,NP_000201.2,NP_001073286.1","NP_001303235.1,NP_000201.2,NP_001073286.1","3655,3655,3655","6142,6142,6142","147556,147556,147556","CCDS82534.1,CCDS2249.1,CCDS46451.1",",,","integrin alpha-6 isoform c,integrin alpha-6 isoform b preproprotein,integrin alpha-6 isoform a preproprotein",",,","True","G/A","rs11895564","Variant is Precious,Links exist to PubMed,Has 3D structure,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","120","SNV","0.7484,0.2516","True","G/A","rs11895564","EX_TARGET",18864,"1260","0.251597",5008,918,171,"156","0.224784",694,108,24,"430","0.325265",1322,300,65,"299","0.305726",978,221,39,"281","0.279324",1006,209,36,"94","0.093254",1008,80,7,"False",{"$nulls":36},"G/A","332360","Benign","Benign","Benign (1)","(1 Stars) Criteria Provided, Single Submitter","rs11895564","ITGA6,ITGA6-AS1","3655,101929947","NC_000002.11:g.173339808G>A","NC_000002.12:g.172475080G>A","NM_000210.3:c.1138G>A","NP_000201.2:p.Ala380Thr","RCV000279397","Epidermolysis bullosa junctionalis with pyloric atresia","Benign","(1 Stars) Criteria Provided, Single Submitter","2016-06-14"]
["2:176046363","C/A",null,"PASS","0.705882","5,12",17,99,"0/1","ATP5G3","5_prime_UTR_variant","Other","NM_001689.4","NM_001689.4:c.-74+21G>T",null,"NM_001002258.4,NM_001689.4,NM_001190329.1","1,1,1",",,","ATP5G3,ATP5G3,ATP5G3","NM_001002258.4,NM_001689.4,NM_001190329.1","mRNA,mRNA,mRNA","mRNA,mRNA,mRNA","-,-,-","NP_001002258.1,NP_001680.1,NP_001177258.1","NP_001002258.1,NP_001680.1,NP_001177258.1","518,518,518","843,843,843","602736,602736,602736","CCDS2263.1,CCDS2263.1,",",,","ATP synthase F(0) complex subunit C3, mitochondrial isoform A precursor,ATP synthase F(0) complex subunit C3, mitochondrial isoform A precursor,ATP synthase F(0) complex subunit C3, mitochondrial isoform B precursor",",,","True","C/A","rs147943553","Has SubmitterLinkOut,In 5' UTR,In Intron,Is Assembly specific,Is Validated,1000 Genome phase 1,1000 Genome phase 3","134","SNV","0.991,0.008986","True","C/A","rs147943553",null,14042,"45","0.00898562",5008,45,0,"7","0.0100865",694,7,0,"1","0.00075643",1322,1,0,"12","0.0122699",978,12,0,"25","0.0248509",1006,25,0,"0","0",1008,0,0,"False"]
["2:179549131","C/T",null,"PASS","0.396694","73,48",121,99,"0/1","TTN","missense_variant","Missense","NM_001267550.2","NM_001267550.2:c.32648G>A","NP_001254479.2:p.Arg10883Lys","NM_001267550.2,NM_001256850.1,NM_133378.4,NM_133432.3,NM_133437.4,NM_003319.4","132,130,129,48,48,47","30.2354,30.757,28.8366,,,","TTN,TTN,TTN,TTN,TTN,TTN","NM_001267550.2,NM_001256850.1,NM_133378.4,NM_133432.3,NM_133437.4,NM_003319.4","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","-,-,-,-,-,-","NP_001254479.2,NP_001243779.1,NP_596869.4,NP_597676.3,NP_597681.4,NP_003310.4","NP_001254479.2,NP_001243779.1,NP_596869.4,NP_597676.3,NP_597681.4,NP_003310.4","7273,7273,7273,7273,7273,7273","12403,12403,12403,12403,12403,12403","188840,188840,188840,188840,188840,188840","CCDS59435.1,CCDS74610.1,CCDS54424.1,CCDS54423.1,CCDS54422.1,CCDS54421.1",",,,,,","titin isoform IC,titin isoform N2BA,titin isoform N2-A,titin isoform novex-1,titin isoform novex-2,titin isoform N2-B",",,,,,","True","C/T","rs116676813","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,In Intron,Is Assembly specific,Is Validated,Marker on high density genotype kit (50K+),1000 Genome phase 1,1000 Genome phase 3","132","SNV","0.9946,0.005391","True","C/T","rs116676813","EX_TARGET",17513,"27","0.00539137",5008,27,0,"0","0",694,0,0,"2","0.00151286",1322,2,0,"1","0.00102249",978,1,0,"24","0.0238569",1006,24,0,"0","0",1008,0,0,"False",{"$nulls":36},"C/T","46874","Likely Benign","Benign/Likely Benign","Benign (7),Likely benign (6)","(2 Stars) Criteria Provided, Multiple Submitters, No Conflicts","rs116676813","TTN","7273","NC_000002.11:g.179549131C>T","NC_000002.12:g.178684404C>T","NM_001267550.2:c.32648G>A","NP_001254479.2:p.Arg10883Lys","RCV000040144,RCV000204673,RCV000246469,RCV000276756,RCV000291980,RCV000328201,RCV000331726,RCV000382632,RCV000386297","not specified,Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J,Cardiovascular phenotype,Limb-Girdle Muscular Dystrophy, Recessive,Dilated Cardiomyopathy, Dominant,Hereditary myopathy with early respiratory failure,Myopathy, early-onset, with fatal cardiomyopathy,Distal myopathy Markesbery-Griggs type,Hypertrophic cardiomyopathy","Benign,Benign,Benign,Likely Benign,Likely Benign,Likely Benign,Likely Benign,Likely Benign,Likely Benign","(2 Stars) Criteria Provided, Multiple Submitters, No Conflicts,(1 Stars) Criteria Provided, Single Submitter,(1 Stars) Criteria Provided, Single Submitter,(1 Stars) Criteria Provided, Single Submitter,(1 Stars) Criteria Provided, Single Submitter,(1 Stars) Criteria Provided, Single Submitter,(1 Stars) Criteria Provided, Single Submitter,(1 Stars) Criteria Provided, Single Submitter,(1 Stars) Criteria Provided, Single Submitter","2013-06-24,2017-08-03,2013-03-29,2016-06-14,2016-06-14,2016-06-14,2016-06-14,2016-06-14,2016-06-14"]
["2:191064776","C/T",null,"PASS","0.430657","78,59",137,99,"0/1","C2orf88","missense_variant","Missense","NM_032321.2","NM_032321.2:c.190C>T","NP_115697.2:p.Arg64Cys","NM_001042521.1,NM_001042520.1,NM_001042519.1,NM_032321.2","3,2,2,2","65.625,65.625,65.625,65.625","C2orf88,C2orf88,C2orf88,C2orf88","NM_001042521.1,NM_001042520.1,NM_001042519.1,NM_032321.2","mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA","+,+,+,+","NP_001035986.1,NP_001035985.1,NP_001035984.1,NP_115697.2","NP_001035986.1,NP_001035985.1,NP_001035984.1,NP_115697.2","84281,84281,84281,84281","28191,28191,28191,28191","615117,615117,615117,615117","CCDS42792.1,CCDS42792.1,CCDS42792.1,CCDS42792.1",",,,","small membrane A-kinase anchor protein,small membrane A-kinase anchor protein,small membrane A-kinase anchor protein,small membrane A-kinase anchor protein",",,,","True","C/T","rs773138134","Has non-synonymous missense A coding region,Has reference A coding region,In 3' UTR,Is Assembly specific,Is Validated","144","SNV",{"$nulls":36},"False"]
["2:202400832","C/T",null,"PASS","0.587156","45,64",109,99,"0/1","ALS2CR11","missense_variant","Missense","NM_001168221.1","NM_001168221.1:c.1418G>A","NP_001161693.1:p.Arg473Lys","NM_152525.5,NM_001168216.1,NM_001168221.1,NM_001168217.1","13,11,13,13","75.6944,,25.9381,85.7229","ALS2CR11,ALS2CR11,ALS2CR11,ALS2CR11","NM_152525.5,NM_001168216.1,NM_001168221.1,NM_001168217.1","mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA","-,-,-,-","NP_689738.3,NP_001161688.1,NP_001161693.1,NP_001161689.1","NP_689738.3,NP_001161688.1,NP_001161693.1,NP_001161689.1","151254,151254,151254,151254","14438,14438,14438,14438",",,,","CCDS2349.1,CCDS54428.1,CCDS54430.1,CCDS54429.1",",,,","amyotrophic lateral sclerosis 2 chromosomal region candidate gene 11 protein isoform 2,amyotrophic lateral sclerosis 2 chromosomal region candidate gene 11 protein isoform 4,amyotrophic lateral sclerosis 2 chromosomal region candidate gene 11 protein isoform 1,amyotrophic lateral sclerosis 2 chromosomal region candidate gene 11 protein isoform 3",",,,","True","C/T","rs78719588","Has non-synonymous missense A coding region,Has reference A coding region,In Intron,Is Assembly specific,Is Validated,Marker on high density genotype kit (50K+),1000 Genome phase 1,1000 Genome phase 3","131","SNV","0.9982,0.001797","True","C/T","rs78719588","EX_TARGET",18644,"9","0.00179712",5008,9,0,"1","0.00144092",694,1,0,"0","0",1322,0,0,"2","0.00204499",978,2,0,"6","0.00596421",1006,6,0,"0","0",1008,0,0,"False"]
["2:202571562","C/T",null,"PASS","0.457143","76,64",140,99,"0/1","ALS2","splice_region_variant","Other","NM_020919.3","NM_020919.3:c.4580+7G>A",null,"NM_020919.3","29",null,"ALS2","NM_020919.3","mRNA","mRNA","-","NP_065970.2","NP_065970.2","57679","443","606352","CCDS42800.1",null,"alsin isoform 1",null,"True","C/T","rs3219169","RS orientation is reversed,Has SubmitterLinkOut,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","106","SNV","0.7346,0.2654","True","C/T","rs3219169","EX_TARGET",13708,"1329","0.265375",5008,909,210,"80","0.115274",694,70,5,"269","0.20348",1322,213,28,"401","0.41002",978,229,86,"189","0.187873",1006,153,18,"390","0.386905",1008,244,73,"False",{"$nulls":36},"C/T","261378","Benign","Benign","Benign (4)","(2 Stars) Criteria Provided, Multiple Submitters, No Conflicts","rs3219169","ALS2","57679","NC_000002.11:g.202571562C>T","NC_000002.12:g.201706839C>T","NM_020919.3:c.4580+7G>A",null,"RCV000242163,RCV000306834,RCV000391745","not specified,Amyotrophic Lateral Sclerosis, Recessive,ALS2-Related Disorders","Benign,Benign,Benign","(2 Stars) Criteria Provided, Multiple Submitters, No Conflicts,(1 Stars) Criteria Provided, Single Submitter,(1 Stars) Criteria Provided, Single Submitter","2017-02-02,2016-06-14,2016-06-14"]
["2:212812344","G/A",null,"PASS","0.605634","56,86",142,99,"0/1","ERBB4","splice_region_variant","Other","NM_005235.2","NM_005235.2:c.235-3C>T",null,"NM_005235.2,NM_001042599.1","3,3",",","ERBB4,ERBB4","NM_005235.2,NM_001042599.1","mRNA,mRNA","mRNA,mRNA","-,-","NP_005226.1,NP_001036064.1","NP_005226.1,NP_001036064.1","2066,2066","3432,3432","600543,600543","CCDS2394.1,CCDS42811.1",",","receptor tyrosine-protein kinase erbB-4 isoform JM-a/CVT-1 precursor,receptor tyrosine-protein kinase erbB-4 isoform JM-a/CVT-2 precursor",",","False",{"$nulls":41},"True","esv3594180,esv3594186","Gain,Gain","<CN2>,<CN2>","DUP_uwash,DUP_gs","EX_TARGET,EX_TARGET","17355,16102","1,1","0.000199681,0.000199681","5008,5008","1,1","0,0","0,0","0,0","694,694","0,0","0,0","0,0","0,0","1322,1322","0,0","0,0","0,0","0,0","978,978","0,0","0,0","0,0","0,0","1006,1006","0,0","0,0","1,1","0.000992064,0.000992064","1008,1008","1,1","0,0"]
["2:218668732","C/T",null,"PASS","0.689655","9,20",29,99,"0/1","TNS1","3_prime_UTR_variant","Other","NM_022648.5","NM_022648.5:c.*450G>A",null,"NM_001308023.1,NM_001308022.1,NM_022648.5","30,31,33",",,","TNS1,TNS1,TNS1","NM_001308023.1,NM_001308022.1,NM_022648.5","mRNA,mRNA,mRNA","mRNA,mRNA,mRNA","-,-,-","NP_001294952.1,NP_001294951.1,NP_072174.3","NP_001294952.1,NP_001294951.1,NP_072174.3","7145,7145,7145","11973,11973,11973","600076,600076,600076","CCDS77528.1,CCDS77529.1,CCDS2407.1",",,","tensin-1 isoform 3,tensin-1 isoform 2,tensin-1 isoform 1",",,","True","C/T","rs1063281","RS orientation is reversed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","86","SNV","0.4257,0.5743","True","C/T","rs1063281",null,20024,"2876","0.574281",5008,1184,846,"402","0.579251",694,176,113,"798","0.603631",1322,312,243,"476","0.486708",978,228,124,"589","0.585487",1006,237,176,"611","0.606151",1008,231,190,"True","esv3594325","Gain","<CN2>","DUP_gs","EX_TARGET","15596","1","0.000199681","5008","1","0","0","0","694","0","0","1","0.00075643","1322","1","0","0","0","978","0","0","0","0","1006","0","0","0","0","1008","0","0"]
["2:219602499","G/C",null,"PASS","0.634615","38,66",104,99,"0/1","TTLL4","missense_variant","Missense","NM_014640.4","NM_014640.4:c.100G>C","NP_055455.3:p.Glu34Gln","NM_014640.4","3","2.75","TTLL4","NM_014640.4","mRNA","mRNA","+","NP_055455.3","NP_055455.3","9654","28976",null,"CCDS2422.1",null,"tubulin polyglutamylase TTLL4",null,"True","G/C","rs3731877","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","107","SNV","0.5966,0.4034","True","G/C","rs3731877","EX_TARGET",19525,"2020","0.403355",5008,1044,488,"293","0.42219",694,163,65,"794","0.600605",1322,326,234,"322","0.329243",978,202,60,"469","0.466203",1006,239,115,"142","0.140873",1008,114,14,"False"]
["2:224620222","A/G",null,"PASS","0.449367","87,71",158,99,"0/1","AP1S3","3_prime_UTR_variant","Other","NM_001039569.1","NM_001039569.1:c.*3210T>C",null,"NM_001039569.1","5",null,"AP1S3","NM_001039569.1","mRNA","mRNA","-","NP_001034658.1","NP_001034658.1","130340","18971","615781","CCDS42827.1",null,"AP-1 complex subunit sigma-3",null,"True","A/G","rs12151380","Has SubmitterLinkOut,In 3' UTR,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","120","SNV","0.9038,0.09625","True","A/G","rs12151380",null,13693,"482","0.096246",5008,406,38,"117","0.168588",694,97,10,"24","0.0181543",1322,22,1,"116","0.118609",978,106,5,"201","0.199801",1006,159,21,"24","0.0238095",1008,22,1,"False"]
["2:230901647","A/G",null,"PASS","0.5","4,4",8,99,"0/1","SLC16A14","3_prime_UTR_variant","Other","NM_152527.4","NM_152527.4:c.*449T>C",null,"NM_152527.4","5",null,"SLC16A14","NM_152527.4","mRNA","mRNA","-","NP_689740.2","NP_689740.2","151473","26417",null,"CCDS2473.1",null,"monocarboxylate transporter 14",null,"True","A/G","rs13432082","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","121","SNV","0.7151,0.2849","True","A/G","rs13432082",null,19445,"1427","0.284944",5008,847,290,"221","0.318444",694,147,37,"700","0.529501",1322,308,196,"108","0.110429",978,100,4,"301","0.299205",1006,209,46,"97","0.0962302",1008,83,7,"True","esv3594584;esv3594585,esv3594584;esv3594585,esv3594594","Loss,Gain,Gain","<CN0>,<CN2>,<CN2>","DUP_uwash,DUP_uwash,DUP_gs","EX_TARGET,EX_TARGET,EX_TARGET","18788,18788,16131","2,1,1","0.000399361,0.000199681,0.000199681","5008,5008,5008","2,1,1","0,0,0","0,0,0","0,0,0","694,694,694","0,0,0","0,0,0","1,0,0","0.00075643,0,0","1322,1322,1322","1,0,0","0,0,0","0,0,0","0,0,0","978,978,978","0,0,0","0,0,0","1,1,1","0.000994036,0.000994036,0.000994036","1006,1006,1006","1,1,1","0,0,0","0,0,0","0,0,0","1008,1008,1008","0,0,0","0,0,0"]
["2:232672932","C/T",null,"PASS","0.361111","69,39",108,99,"0/1","COPS7B","3_prime_UTR_variant","Other","NM_001308381.1","NM_001308381.1:c.*603C>T",null,"NM_001282949.2,NM_001282951.2,NM_001308381.1,NM_001282952.2,NM_022730.3,NM_001282950.2","6,5,8,6,7,8",",,,,,","COPS7B,COPS7B,COPS7B,COPS7B,COPS7B,COPS7B","NM_001282949.2,NM_001282951.2,NM_001308381.1,NM_001282952.2,NM_022730.3,NM_001282950.2","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","+,+,+,+,+,+","NP_001269878.1,NP_001269880.1,NP_001295310.1,NP_001269881.1,NP_073567.1,NP_001269879.1","NP_001269878.1,NP_001269880.1,NP_001295310.1,NP_001269881.1,NP_073567.1,NP_001269879.1","64708,64708,64708,64708,64708,64708","16760,16760,16760,16760,16760,16760","616010,616010,616010,616010,616010,616010","CCDS63152.1,CCDS74668.1,CCDS77539.1,CCDS63154.1,CCDS2488.1,CCDS63153.1",",,,,,","COP9 signalosome complex subunit 7b isoform c,COP9 signalosome complex subunit 7b isoform d,COP9 signalosome complex subunit 7b isoform f,COP9 signalosome complex subunit 7b isoform e,COP9 signalosome complex subunit 7b isoform b,COP9 signalosome complex subunit 7b isoform a",",,,,,","True","C/T","rs1246014","Variant is Precious,Links exist to PubMed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","87","SNV","0.6036,0.3964","True","C/T","rs1246014",null,21681,"1985","0.396366",5008,765,610,"318","0.458213",694,136,91,"53","0.0400908",1322,49,2,"441","0.45092",978,245,98,"310","0.308151",1006,208,51,"863","0.856151",1008,127,368,"False"]
["2:234602191","A/G",null,"PASS","0.448276","64,52",116,99,"0/1","UGT1A6,UGT1A7,UGT1A8,UGT1A9,UGT1A10","missense_variant","Missense","NM_019075.2,NM_001072.3,NM_019077.2,NM_019076.4,NM_021027.2","NM_019075.2:c.855+56168A>G,NM_001072.3:c.541A>G,NM_019077.2:c.855+10753A>G,NM_019076.4:c.856-73489A>G,NM_021027.2:c.855+20756A>G",",NP_001063.2:p.Thr181Ala,,,","NM_019076.4,NM_019075.2,NM_021027.2,NM_019077.2,NM_205862.1,NM_001072.3","2,1,1,1,2,1",",,,,,33.7711","UGT1A8,UGT1A10,UGT1A9,UGT1A7,UGT1A6,UGT1A6","NM_019076.4,NM_019075.2,NM_021027.2,NM_019077.2,NM_205862.1,NM_001072.3","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","+,+,+,+,+,+","NP_061949.3,NP_061948.1,NP_066307.1,NP_061950.2,NP_995584.1,NP_001063.2","NP_061949.3,NP_061948.1,NP_066307.1,NP_061950.2,NP_995584.1,NP_001063.2","54576,54575,54600,54577,54578,54578","12540,12531,12541,12539,12538,12538","606433,606435,606434,606432,606431,606431","CCDS33402.1,CCDS33403.1,CCDS2505.1,CCDS2506.1,CCDS2508.1,CCDS2507.1",",,,,,","UDP-glucuronosyltransferase 1-8 precursor,UDP-glucuronosyltransferase 1-10 precursor,UDP-glucuronosyltransferase 1-9 precursor,UDP-glucuronosyltransferase 1-7 precursor,UDP-glucuronosyltransferase 1-6 isoform 2,UDP-glucuronosyltransferase 1-6 isoform 1 precursor",",,,,,","True","A/G","rs2070959","Variant is Precious,Provisional Third Party Annotation(TPA),Links exist to PubMed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","96","SNV","0.7224,0.2776","True","A/G","rs2070959","EX_TARGET",19575,"1390","0.277556",5008,982,204,"155","0.223343",694,115,20,"316","0.239032",1322,238,39,"409","0.4182",978,247,81,"312","0.310139",1006,216,48,"198","0.196429",1008,166,16,"False",{"$nulls":36},"A/G","440381","Benign","Benign","Benign (1)","(1 Stars) Criteria Provided, Single Submitter","rs2070959","UGT1A,UGT1A10,UGT1A8,UGT1A7,UGT1A6,UGT1A9","7361,54575,54576,54577,54578,54600","NC_000002.11:g.234602191A>G","NC_000002.12:g.233693545A>G","NM_001072.3:c.541A>G","NP_001063.2:p.Thr181Ala","RCV000507301","not specified","Benign","(1 Stars) Criteria Provided, Single Submitter","2017-04-11"]
["2:239007563","C/T",null,"PASS","0.4375","9,7",16,99,"0/1","SCLY","3_prime_UTR_variant","Other","NM_016510.5","NM_016510.5:c.*567C>T",null,"NM_016510.5","12",null,"SCLY","NM_016510.5","mRNA","mRNA","+","NP_057594.4","NP_057594.4","51540","18161","611056","CCDS2524.2",null,"selenocysteine lyase",null,"True","C/T","rs62196011","Has SubmitterLinkOut,In 3' UTR,In 5' gene region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","129","SNV","0.8115,0.1885","True","C/T","rs62196011",null,14707,"944","0.188498",5008,716,114,"146","0.210375",694,124,11,"164","0.124054",1322,150,7,"354","0.361963",978,224,65,"248","0.246521",1006,186,31,"32","0.031746",1008,32,0,"False"]
["2:242077496","C/T",null,"PASS","0.393443","74,48",122,99,"0/1","PASK","missense_variant","Missense","NM_001252119.1","NM_001252119.1:c.748G>A","NP_001239048.1:p.Val250Ile","NM_001252122.1,NM_015148.3,NM_001252119.1,NM_001252120.1,NM_001252124.1","6,6,6,7,6",",18.8066,18.7077,18.8066,21.7657","PASK,PASK,PASK,PASK,PASK","NM_001252122.1,NM_015148.3,NM_001252119.1,NM_001252120.1,NM_001252124.1","mRNA,mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA,mRNA","-,-,-,-,-","NP_001239051.1,NP_055963.2,NP_001239048.1,NP_001239049.1,NP_001239053.1","NP_001239051.1,NP_055963.2,NP_001239048.1,NP_001239049.1,NP_001239053.1","23178,23178,23178,23178,23178","17270,17270,17270,17270,17270","607505,607505,607505,607505,607505",",CCDS2545.1,CCDS58759.1,CCDS2545.1,CCDS58758.1",",,,,","PAS domain-containing serine/threonine-protein kinase isoform 3,PAS domain-containing serine/threonine-protein kinase isoform 2,PAS domain-containing serine/threonine-protein kinase isoform 1,PAS domain-containing serine/threonine-protein kinase isoform 2,PAS domain-containing serine/threonine-protein kinase isoform 4",",,,,","True","C/T","rs1470414","RS orientation is reversed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","88","SNV","0.7776,0.2224","True","C/T","rs1470414","EX_TARGET",21641,"1114","0.222444",5008,806,154,"207","0.298271",694,137,35,"152","0.114977",1322,140,6,"207","0.211656",978,159,24,"375","0.372763",1006,225,75,"173","0.171627",1008,145,14,"False"]
["3:3084653","C/T",null,"PASS","0.461538","28,24",52,99,"0/1","CNTN4","splice_region_variant","Other","NM_175607.2","NM_175607.2:c.2512-8C>T",null,"NM_175607.2,NM_001206955.1,NM_001206956.1,NM_175613.2","22,21,13,13",",,,","CNTN4,CNTN4,CNTN4,CNTN4","NM_175607.2,NM_001206955.1,NM_001206956.1,NM_175613.2","mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA","+,+,+,+","NP_783200.1,NP_001193884.1,NP_001193885.1,NP_783302.1","NP_783200.1,NP_001193884.1,NP_001193885.1,NP_783302.1","152330,152330,152330,152330","2174,2174,2174,2174","607280,607280,607280,607280","CCDS43041.1,CCDS43041.1,,CCDS2558.1","16239,16239,16239,16239","contactin-4 isoform a precursor,contactin-4 isoform a precursor,contactin-4 isoform d,contactin-4 isoform c",",,,","True","C/T","rs6800354","Has SubmitterLinkOut,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","116","SNV","0.7786,0.2214","True","C/T","rs6800354","EX_TARGET",20220,"1109","0.221446",5008,843,133,"144","0.207493",694,122,11,"433","0.327534",1322,303,65,"161","0.164622",978,127,17,"258","0.256461",1006,190,34,"113","0.112103",1008,101,6,"False"]
["3:5258431","G/A",null,"PASS","0.443182","49,39",88,99,"0/1","EDEM1","3_prime_UTR_variant","Other","NM_014674.2","NM_014674.2:c.*828G>A",null,"NM_014674.2","12",null,"EDEM1","NM_014674.2","mRNA","mRNA","+","NP_055489.1","NP_055489.1","9695","18967","607673","CCDS33686.1","09644","ER degradation-enhancing alpha-mannosidase-like protein 1",null,"True","G/A","rs370476","RS orientation is reversed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","80","SNV","0.1737,0.8263","True","G/A","rs370476",null,21006,"4138","0.826278",5008,696,1721,"596","0.85879",694,80,258,"1010","0.763994",1322,240,385,"778","0.795501",978,156,311,"810","0.805169",1006,158,326,"944","0.936508",1008,62,441,"False"]
["3:10088343","A/G",null,"PASS","0.241379","154,49",203,99,"0/1","FANCD2","missense_variant","Missense","NM_033084.4","NM_033084.4:c.1214A>G","NP_149075.2:p.Asn405Ser","NM_033084.4,NM_001018115.2,NM_001319984.1","15,15,15","27.4683,27.8466,27.8466","FANCD2,FANCD2,FANCD2","NM_033084.4,NM_001018115.2,NM_001319984.1","mRNA,mRNA,mRNA","mRNA,mRNA,mRNA","+,+,+","NP_149075.2,NP_001018125.1,NP_001306913.1","NP_149075.2,NP_001018125.1,NP_001306913.1","2177,2177,2177","3585,3585,3585","613984,613984,613984","CCDS2595.1,CCDS33696.1,CCDS33696.1","01968,01968,01968","Fanconi anemia group D2 protein isoform a,Fanconi anemia group D2 protein isoform b,Fanconi anemia group D2 protein isoform b",",,","True","A/G","rs73126218","Has 3D structure,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,In 5' gene region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1","131","SNV",{"$nulls":36},"False",{"$nulls":36},"A/G","342263","Benign","Benign","Benign (2)","(2 Stars) Criteria Provided, Multiple Submitters, No Conflicts","rs73126218","FANCD2,LOC107303338","2177,107303338","NC_000003.11:g.10088343A>G","NC_000003.12:g.10046659A>G","NM_033084.4:c.1214A>G","NP_149075.2:p.Asn405Ser","RCV000352188","Fanconi anemia","Benign","(2 Stars) Criteria Provided, Multiple Submitters, No Conflicts","2017-08-11"]
["3:13361391","A/G",null,"PASS","0.575949","67,91",158,99,"0/1","NUP210","missense_variant","Missense","NM_024923.3","NM_024923.3:c.5255T>C","NP_079199.2:p.Leu1752Ser","NM_024923.3","37","92.7613","NUP210","NM_024923.3","mRNA","mRNA","-","NP_079199.2","NP_079199.2","23225","30052","607703","CCDS33704.1","06368","nuclear pore membrane glycoprotein 210 precursor",null,"True","A/G","rs354479","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","79","SNV","0.1092,0.8908","True","A/G","rs354479","EX_TARGET",16988,"4461","0.890775",5008,443,2009,"590","0.850144",694,90,250,"1277","0.965961",1322,41,618,"862","0.881391",978,106,378,"737","0.732604",1006,193,272,"995","0.987103",1008,13,491,"False"]
["3:14713058","G/T",null,"PASS","0.666667","1,2",3,31,"0/1","CCDC174","3_prime_UTR_variant","Other","NM_016474.4","NM_016474.4:c.*357G>T",null,"NM_016474.4","11",null,"CCDC174","NM_016474.4","mRNA","mRNA","+","NP_057558.3","NP_057558.3","51244","28033","616735","CCDS2620.2",null,"coiled-coil domain-containing protein 174",null,"True","G/T","rs11717438","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","120","SNV","0.653,0.347","True","G/T","rs11717438",null,20225,"1738","0.347045",5008,1058,340,"317","0.456772",694,157,80,"617","0.466717",1322,331,143,"223","0.228016",978,169,27,"352","0.349901",1006,226,63,"229","0.227183",1008,175,27,"False"]
["3:27332820","A/G",null,"PASS","0.46","54,46",100,99,"0/1","NEK10","missense_variant","Missense","NM_152534.4","NM_152534.4:c.1538T>C","NP_689747.3:p.Leu513Ser","NM_152534.4,NM_199347.3","19,19","43.6772,71.856","NEK10,NEK10","NM_152534.4,NM_199347.3","mRNA,mRNA","mRNA,mRNA","-,-","NP_689747.3,NP_955379.2","NP_689747.3,NP_955379.2","152110,152110","18592,18592",",",",CCDS46781.1","08135,08135","serine/threonine-protein kinase Nek10 isoform 2,serine/threonine-protein kinase Nek10 isoform 3",",","True","A/G","rs10510592","RS orientation is reversed,Variant is Precious,Links exist to PubMed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","119","SNV","0.7885,0.2115","True","A/G","rs10510592","EX_TARGET",18497,"1059","0.211462",5008,797,131,"245","0.353026",694,155,45,"159","0.120272",1322,151,4,"278","0.284254",978,188,45,"276","0.274354",1006,216,30,"101","0.100198",1008,87,7,"True","esv3595661,esv3595667","Gain,Gain","<CN2>,<CN2>","DUP_uwash,DUP_gs","EX_TARGET,EX_TARGET","15399,19051","1,1","0.000199681,0.000199681","5008,5008","1,1","0,0","0,0","0,0","694,694","0,0","0,0","1,1","0.00075643,0.00075643","1322,1322","1,1","0,0","0,0","0,0","978,978","0,0","0,0","0,0","0,0","1006,1006","0,0","0,0","0,0","0,0","1008,1008","0,0","0,0"]
["3:32533246","T/C",null,"PASS","0.492063","64,62",126,99,"0/1","CMTM6","missense_variant","Missense","NM_017801.2","NM_017801.2:c.271A>G","NP_060271.1:p.Thr91Ala","NM_017801.2","2","48.913","CMTM6","NM_017801.2","mRNA","mRNA","-","NP_060271.1","NP_060271.1","54918","19177","607889","CCDS2653.1","06987","CKLF-like MARVEL transmembrane domain-containing protein 6",null,"True","T/C","rs35574803","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","126","SNV","0.993,0.006989","True","T/C","rs35574803","EX_TARGET",20013,"35","0.00698882",5008,35,0,"5","0.00720461",694,5,0,"0","0",1322,0,0,"6","0.00613497",978,6,0,"24","0.0238569",1006,24,0,"0","0",1008,0,0,"False"]
["3:40558150","G/C",null,"PASS","0.516393","59,63",122,99,"0/1","ZNF620","missense_variant","Missense","NM_175888.3","NM_175888.3:c.1065G>C","NP_787084.1:p.Gln355His","NM_001256167.1,NM_175888.3,NM_001256168.1","3,5,3","77.8857,83.8456,77.8857","ZNF620,ZNF620,ZNF620","NM_001256167.1,NM_175888.3,NM_001256168.1","mRNA,mRNA,mRNA","mRNA,mRNA,mRNA","+,+,+","NP_001243096.1,NP_787084.1,NP_001243097.1","NP_001243096.1,NP_787084.1,NP_001243097.1","253639,253639,253639","28742,28742,28742",",,","CCDS58825.1,CCDS33740.1,CCDS58825.1","15878,15878,15878","zinc finger protein 620 isoform b,zinc finger protein 620 isoform a,zinc finger protein 620 isoform b",",,","True","G/C","rs74970181","Has 3D structure,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","131","SNV","0.9429,0.05711","True","G/C","rs74970181","EX_TARGET",23388,"286","0.0571086",5008,264,11,"17","0.0244957",694,17,0,"60","0.0453858",1322,56,2,"110","0.112474",978,94,8,"14","0.0139165",1006,14,0,"85","0.0843254",1008,83,1,"False"]
["3:42578026","A/C",null,"PASS","0.666667","2,4",6,52,"0/1","VIPR1","3_prime_UTR_variant","Other","NM_004624.3","NM_004624.3:c.*253A>C",null,"NM_001251882.1,NM_001251885.1,NM_004624.3,NM_001251884.1,NM_001251883.1","14,13,13,12,10",",,,,","VIPR1,VIPR1,VIPR1,VIPR1,VIPR1","NM_001251882.1,NM_001251885.1,NM_004624.3,NM_001251884.1,NM_001251883.1","mRNA,mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA,mRNA","+,+,+,+,+","NP_001238811.1,NP_001238814.1,NP_004615.2,NP_001238813.1,NP_001238812.1","NP_001238811.1,NP_001238814.1,NP_004615.2,NP_001238813.1,NP_001238812.1","7433,7433,7433,7433,7433","12694,12694,12694,12694,12694","192321,192321,192321,192321,192321","CCDS58828.1,,CCDS2698.1,CCDS58827.1,CCDS58829.1","01890,01890,01890,01890,01890","vasoactive intestinal polypeptide receptor 1 isoform 2,vasoactive intestinal polypeptide receptor 1 isoform 5,vasoactive intestinal polypeptide receptor 1 isoform 1 precursor,vasoactive intestinal polypeptide receptor 1 isoform 4,vasoactive intestinal polypeptide receptor 1 isoform 3",",,,,","True","A/C","rs7636205","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),1000 Genome phase 1,1000 Genome phase 3","116","SNV","0.9139,0.08606","True","A/C","rs7636205",null,16444,"431","0.0860623",5008,395,18,"47","0.0677233",694,39,4,"129","0.0975794",1322,121,4,"124","0.126789",978,116,4,"122","0.121272",1006,110,6,"9","0.00892857",1008,9,0,"False"]
["3:46619238","T/A",null,"PASS","0.416667","14,10",24,99,"0/1","TDGF1","5_prime_UTR_variant","Other","NM_003212.3","NM_003212.3:c.-222T>A",null,"NM_001174136.1,NM_003212.3","2,1",",","TDGF1,TDGF1","NM_001174136.1,NM_003212.3","mRNA,mRNA","mRNA,mRNA","+,+","NP_001167607.1,NP_003203.1","NP_001167607.1,NP_003203.1","6997,6997","11701,11701","187395,187395","CCDS54575.1,CCDS2742.1","01757,01757","teratocarcinoma-derived growth factor 1 isoform 2,teratocarcinoma-derived growth factor 1 isoform 1 precursor",",","True","T/A","rs80045772","Has SubmitterLinkOut,In 5' UTR,In Intron,Is Assembly specific,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","131","SNV","0.8265,0.1735","True","T/A","rs112481213",null,15932,"869","0.173522",5008,643,113,"137","0.197406",694,107,15,"37","0.0279879",1322,37,0,"281","0.287321",978,185,48,"271","0.269384",1006,191,40,"143","0.141865",1008,123,10,"False"]
["3:49053219","A/G",null,"PASS","0.419355","36,26",62,99,"0/1","DALRD3,WDR6","3_prime_UTR_variant","Other","NM_001009996.2,NM_018031.4","NM_001009996.2:c.1512+18T>C,NM_018031.4:c.*498A>G",",","NM_001320546.1,NM_018031.4,NM_001320547.1,NM_001009996.2,NM_001276405.1,NM_018114.5","6,6,6,11,11,11",",,,,,","WDR6,WDR6,WDR6,DALRD3,DALRD3,DALRD3","NM_001320546.1,NM_018031.4,NM_001320547.1,NM_001009996.2,NM_001276405.1,NM_018114.5","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","+,+,+,-,-,-","NP_001307475.1,NP_060501.3,NP_001307476.1,NP_001009996.1,NP_001263334.1,NP_060584.3","NP_001307475.1,NP_060501.3,NP_001307476.1,NP_001009996.1,NP_001263334.1,NP_060584.3","11180,11180,11180,55152,55152,55152","12758,12758,12758,25536,25536,25536","606031,606031,606031,,,",",CCDS2782.2,CCDS82772.1,CCDS33754.1,CCDS63632.1,CCDS2783.1",",,,,,","WD repeat-containing protein 6 isoform 2,WD repeat-containing protein 6 isoform 1,WD repeat-containing protein 6 isoform 3,DALR anticodon-binding domain-containing protein 3 isoform 1,DALR anticodon-binding domain-containing protein 3 isoform 3,DALR anticodon-binding domain-containing protein 3 isoform 2",",,,,,","True","A/G","rs7100","RS orientation is reversed,Has SubmitterLinkOut,Has reference A coding region,Has synonymous A coding region,In 3' UTR,In Intron,In 3' gene region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","52","SNV","0.09465,0.9054","True","A/G","rs7100","EX_TARGET",20046,"4534","0.905351",5008,396,2069,"600","0.864553",694,80,260,"1194","0.903177",1322,114,540,"941","0.962168",978,37,452,"791","0.786282",1006,165,313,"1008","1",1008,0,504,"False"]
["3:51420421","A/C",null,"PASS","0.541667","11,13",24,99,"0/1","DOCK3","3_prime_UTR_variant","Other","NM_004947.4","NM_004947.4:c.*1431A>C",null,"NM_004947.4","53",null,"DOCK3","NM_004947.4","mRNA","mRNA","+","NP_004938.1","NP_004938.1","1795","2989","603123","CCDS46835.1","10341","dedicator of cytokinesis protein 3",null,"True","A/C","rs4441646","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","111","SNV","0.8139,0.1861","True","A/C","rs4441646",null,18455,"932","0.186102",5008,702,115,"87","0.12536",694,75,6,"51","0.0385779",1322,51,0,"366","0.374233",978,244,61,"217","0.215706",1006,171,23,"211","0.209325",1008,161,25,"False"]
["3:54952383","G/T",null,"SOR3","0.333333","6,3",9,99,"0/1","CACNA2D3,LRTM1","3_prime_UTR_variant","Other","NM_018398.2,NM_020678.3","NM_018398.2:c.2449+18488G>T,NM_020678.3:c.*103C>A",",","NM_018398.2,NM_020678.3,NM_001304389.1","27,3,3",",,","CACNA2D3,LRTM1,LRTM1","NM_018398.2,NM_020678.3,NM_001304389.1","mRNA,mRNA,mRNA","mRNA,mRNA,mRNA","+,-,-","NP_060868.2,NP_065729.1,NP_001291318.1","NP_060868.2,NP_065729.1,NP_001291318.1","55799,57408,57408","15460,25023,25023","606399,,","CCDS54598.1,CCDS2876.1,CCDS77753.1",",13718,13718","voltage-dependent calcium channel subunit alpha-2/delta-3 precursor,leucine-rich repeat and transmembrane domain-containing protein 1 isoform 1 precursor,leucine-rich repeat and transmembrane domain-containing protein 1 isoform 2",",,","False",{"$nulls":41},"False"]
["3:57494138","A/C",null,"PASS","0.439024","46,36",82,99,"0/1","DNAH12","missense_variant","Missense","NM_001291661.1","NM_001291661.1:c.672T>G","NP_001278590.1:p.Asp224Glu","NM_001291661.1,NM_198564.3","7,7","7.1988,48.8355","DNAH12,DNAH12","NM_001291661.1,NM_198564.3","mRNA,mRNA","mRNA,mRNA","-,-","NP_001278590.1,NP_940966.2","NP_001278590.1,NP_940966.2","201625,201625","2943,2943","603340,603340",",CCDS33771.1",",","dynein heavy chain 12, axonemal isoform 3,dynein heavy chain 12, axonemal isoform 2",",","True","A/C","rs6445902","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","116","SNV","0.7644,0.2356","True","A/C","rs6445902","EX_TARGET",16893,"1180","0.235623",5008,736,222,"108","0.15562",694,88,10,"654","0.494705",1322,304,175,"171","0.174847",978,133,19,"165","0.164016",1006,137,14,"82","0.0813492",1008,74,4,"False",{"$nulls":36},"A/C","402643","Benign","Benign","Benign (1)","(1 Stars) Criteria Provided, Single Submitter","rs6445902","DNAH12","201625","NC_000003.11:g.57494138A>C","NC_000003.12:g.57508411A>C","NM_198564.3:c.672T>G","NP_940966.2:p.Asp224Glu","RCV000455207","not specified","Benign","(1 Stars) Criteria Provided, Single Submitter","2016-03-29"]
["3:58410554","C/T",null,"PASS","0.462687","36,31",67,99,"0/1","PXK","missense_variant","Missense","NM_017771.4","NM_017771.4:c.1604C>T","NP_060241.2:p.Ala535Val","NM_001289101.1,NM_001289096.1,NM_001289100.1,NM_001289095.1,NM_001289099.1,NM_017771.4,NM_001289098.1","15,16,17,18,18,18,19","89.8944,91.8193,,93.5579,90.9946,92.2856,","PXK,PXK,PXK,PXK,PXK,PXK,PXK","NM_001289101.1,NM_001289096.1,NM_001289100.1,NM_001289095.1,NM_001289099.1,NM_017771.4,NM_001289098.1","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","+,+,+,+,+,+,+","NP_001276030.1,NP_001276025.1,NP_001276029.1,NP_001276024.1,NP_001276028.1,NP_060241.2,NP_001276027.1","NP_001276030.1,NP_001276025.1,NP_001276029.1,NP_001276024.1,NP_001276028.1,NP_060241.2,NP_001276027.1","54899,54899,54899,54899,54899,54899,54899","23326,23326,23326,23326,23326,23326,23326","611450,611450,611450,611450,611450,611450,611450",",,CCDS74955.1,CCDS74954.1,,CCDS2889.1,CCDS74952.1",",,,,,,","PX domain-containing protein kinase-like protein isoform 7,PX domain-containing protein kinase-like protein isoform 3,PX domain-containing protein kinase-like protein isoform 6,PX domain-containing protein kinase-like protein isoform 2,PX domain-containing protein kinase-like protein isoform 5,PX domain-containing protein kinase-like protein isoform 1,PX domain-containing protein kinase-like protein isoform 4",",,,,,,","True","C/T","rs34579268","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Has synonymous A coding region,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","126","SNV","0.7945,0.2055","True","C/T","rs34579268","EX_TARGET",17867,"1029","0.205471",5008,715,157,"197","0.283862",694,133,32,"283","0.21407",1322,223,30,"168","0.171779",978,138,15,"380","0.377734",1006,220,80,"1","0.000992064",1008,1,0,"False"]
["3:68781025","A/C",null,"SOR3","0.615385","5,8",13,99,"0/1","FAM19A4","3_prime_UTR_variant","Other","NM_182522.4","NM_182522.4:c.*1268T>G",null,"NM_182522.4,NM_001005527.2","6,6",",","FAM19A4,FAM19A4","NM_182522.4,NM_001005527.2","mRNA,mRNA","mRNA,mRNA","-,-","NP_872328.1,NP_001005527.1","NP_872328.1,NP_001005527.1","151647,151647","21591,21591",",","CCDS2907.1,CCDS2907.1","08343,08343","protein FAM19A4 precursor,protein FAM19A4 precursor",",","True","A/C","rs1504299","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","88","SNV","0.3562,0.6438","True","A/C","rs1504299",null,14839,"3224","0.64377",5008,1006,1109,"397","0.572046",694,161,118,"564","0.426626",1322,332,116,"822","0.840491",978,122,350,"636","0.632207",1006,228,204,"805","0.798611",1008,163,321,"False"]
["3:75786202","T/C",null,"MQ40","0.111111","16,2",18,36,"0/1","ZNF717","missense_variant","Missense","NM_001128223.2","NM_001128223.2:c.2572A>G","NP_001121695.1:p.Ser858Gly","NM_001324027.1,NM_001324028.1,NM_001324026.1,NM_001290210.1,NM_001128223.2,NM_001290209.1,NM_001290208.1","5,4,5,4,5,5,5",",,,,93.6612,93.2948,93.6612","ZNF717,ZNF717,ZNF717,ZNF717,ZNF717,ZNF717,ZNF717","NM_001324027.1,NM_001324028.1,NM_001324026.1,NM_001290210.1,NM_001128223.2,NM_001290209.1,NM_001290208.1","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","-,-,-,-,-,-,-","NP_001310956.1,NP_001310957.1,NP_001310955.1,NP_001277139.1,NP_001121695.1,NP_001277138.1,NP_001277137.1","NP_001310956.1,NP_001310957.1,NP_001310955.1,NP_001277139.1,NP_001121695.1,NP_001277138.1,NP_001277137.1","100131827,100131827,100131827,100131827,100131827,100131827,100131827","29448,29448,29448,29448,29448,29448,29448",",,,,,,",",,CCDS77774.1,CCDS77774.1,,CCDS77773.1,",",,,,,,","zinc finger protein 717 isoform d,zinc finger protein 717 isoform e,zinc finger protein 717 isoform c,zinc finger protein 717 isoform c,zinc finger protein 717 isoform a,zinc finger protein 717 isoform b,zinc finger protein 717 isoform a",",,,,,,","False",{"$nulls":41},"False"]
["3:88041190","T/C",null,"PASS","0.509804","75,78",153,99,"0/1","HTR1F","3_prime_UTR_variant","Other","NM_000866.4","NM_000866.4:c.*190T>C",null,"NM_001322209.1,NM_001322210.1,NM_001322208.1,NM_000866.4","3,3,3,2",",,,","HTR1F,HTR1F,HTR1F,HTR1F","NM_001322209.1,NM_001322210.1,NM_001322208.1,NM_000866.4","mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA","+,+,+,+","NP_001309138.1,NP_001309139.1,NP_001309137.1,NP_000857.1","NP_001309138.1,NP_001309139.1,NP_001309137.1,NP_000857.1","3355,3355,3355,3355","5292,5292,5292,5292","182134,182134,182134,182134","CCDS2920.1,CCDS2920.1,CCDS2920.1,CCDS2920.1",",,,","5-hydroxytryptamine receptor 1F,5-hydroxytryptamine receptor 1F,5-hydroxytryptamine receptor 1F,5-hydroxytryptamine receptor 1F",",,,","True","T/C","rs116444262","In 3' UTR,Is Assembly specific,Is Validated,Marker on high density genotype kit (50K+),1000 Genome phase 1,1000 Genome phase 3","132","SNV","0.9974,0.002596","True","T/C","rs116444262",null,13516,"13","0.00259585",5008,13,0,"1","0.00144092",694,1,0,"1","0.00075643",1322,1,0,"0","0",978,0,0,"11","0.0109344",1006,11,0,"0","0",1008,0,0,"False"]
["3:88042615","G/A",null,"PASS","0.555556","36,45",81,99,"0/1","HTR1F","3_prime_UTR_variant","Other","NM_000866.4","NM_000866.4:c.*1615G>A",null,"NM_001322209.1,NM_001322210.1,NM_001322208.1,NM_000866.4","3,3,3,2",",,,","HTR1F,HTR1F,HTR1F,HTR1F","NM_001322209.1,NM_001322210.1,NM_001322208.1,NM_000866.4","mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA","+,+,+,+","NP_001309138.1,NP_001309139.1,NP_001309137.1,NP_000857.1","NP_001309138.1,NP_001309139.1,NP_001309137.1,NP_000857.1","3355,3355,3355,3355","5292,5292,5292,5292","182134,182134,182134,182134","CCDS2920.1,CCDS2920.1,CCDS2920.1,CCDS2920.1",",,,","5-hydroxytryptamine receptor 1F,5-hydroxytryptamine receptor 1F,5-hydroxytryptamine receptor 1F,5-hydroxytryptamine receptor 1F",",,,","True","G/A","rs77582751","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,Marker on high density genotype kit (50K+),1000 Genome phase 1,1000 Genome phase 3","132","SNV","0.9872,0.01278","True","G/A","rs77582751",null,18042,"64","0.0127796",5008,58,3,"17","0.0244957",694,17,0,"1","0.00075643",1322,1,0,"1","0.00102249",978,1,0,"45","0.0447316",1006,39,3,"0","0",1008,0,0,"False"]
["3:100084020","T/A",null,"PASS","0.238095","48,15",63,99,"0/1","TOMM70","3_prime_UTR_variant","Other","NM_014820.4","NM_014820.4:c.*388A>T",null,"NM_014820.4","12",null,"TOMM70","NM_014820.4","mRNA","mRNA","-","NP_055635.3","NP_055635.3","9868","11985","606081","CCDS33807.1","16194","mitochondrial import receptor subunit TOM70",null,"True","T/A","rs1045610","RS orientation is reversed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","86","SNV","0.8818,0.1182","True","T/A","rs1045610",null,18737,"592","0.118211",5008,480,56,"82","0.118156",694,70,6,"87","0.0658094",1322,79,4,"148","0.151329",978,120,14,"250","0.248509",1006,186,32,"25","0.0248016",1008,25,0,"False"]
["3:112081360","G/A",null,"PASS","0.771429","16,54",70,99,"0/1","CD200","3_prime_UTR_variant","Other","NM_001004196.3","NM_001004196.3:c.*963G>A",null,"NM_001318828.1,NM_001318830.1,NM_005944.6,NM_001318826.1,NM_001004196.3","5,5,6,6,7",",,,,","CD200,CD200,CD200,CD200,CD200","NM_001318828.1,NM_001318830.1,NM_005944.6,NM_001318826.1,NM_001004196.3","mRNA,mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA,mRNA","+,+,+,+,+","NP_001305757.1,NP_001305759.1,NP_005935.4,NP_001305755.1,NP_001004196.2","NP_001305757.1,NP_001305759.1,NP_005935.4,NP_001305755.1,NP_001004196.2","4345,4345,4345,4345,4345","7203,7203,7203,7203,7203","155970,155970,155970,155970,155970","CCDS82819.1,,CCDS2965.1,,CCDS33818.1",",,,,","OX-2 membrane glycoprotein isoform d,OX-2 membrane glycoprotein isoform c,OX-2 membrane glycoprotein isoform a precursor,OX-2 membrane glycoprotein isoform c,OX-2 membrane glycoprotein isoform b",",,,,","True","G/A","rs189800177","In 3' UTR,Is Assembly specific,Is Validated,1000 Genome phase 1,1000 Genome phase 3","135","SNV","0.9996,0.0003994","True","G/A","rs189800177",null,16210,"2","0.000399361",5008,2,0,"2","0.00288184",694,2,0,"0","0",1322,0,0,"0","0",978,0,0,"0","0",1006,0,0,"0","0",1008,0,0,"False"]
["3:119013558","G/A",null,"PASS","0.282609","33,13",46,99,"0/1","ARHGAP31","5_prime_UTR_variant","Other","NM_020754.3","NM_020754.3:c.-194G>A",null,"NM_020754.3","1",null,"ARHGAP31","NM_020754.3","mRNA","mRNA","+","NP_065805.2","NP_065805.2","57514","29216","610911","CCDS43135.1",null,"rho GTPase-activating protein 31",null,"True","G/A","rs4687994","Has SubmitterLinkOut,In 5' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","111","SNV","0.6963,0.3037","True","G/A","rs4687994",null,11486,"1521","0.303714",5008,977,272,"192","0.276657",694,134,29,"270","0.204236",1322,212,29,"393","0.40184",978,223,85,"408","0.405567",1006,230,89,"258","0.255952",1008,178,40,"False",{"$nulls":36},"G/A","342620","Benign","Benign","Benign (1)","(1 Stars) Criteria Provided, Single Submitter","rs4687994","ARHGAP31","57514","NC_000003.11:g.119013558G>A","NC_000003.12:g.119294711G>A","NM_020754.3:c.-194G>A",null,"RCV000361208","Adams-Oliver syndrome","Benign","(1 Stars) Criteria Provided, Single Submitter","2016-06-14"]
["3:121154974","T/C",null,"PASS","0.692308","52,117",169,99,"0/1","POLQ","missense_variant","Missense","NM_199420.3","NM_199420.3:c.7538A>G","NP_955452.3:p.Gln2513Arg","NM_199420.3","28","96.9638","POLQ","NM_199420.3","mRNA","mRNA","-","NP_955452.3","NP_955452.3","10721","9186","604419","CCDS33833.1",null,"DNA polymerase theta",null,"True","T/C","rs1381057","Variant is Precious,Links exist to PubMed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","88","SNV","0.2548,0.7452","True","T/C","rs1381057","EX_TARGET",20710,"3732","0.745208",5008,918,1407,"482","0.694524",694,150,166,"834","0.630862",1322,324,255,"860","0.879346",978,102,379,"672","0.667992",1006,232,220,"884","0.876984",1008,110,387,"True","esv3597587","Gain","<CN2>","DUP_gs","EX_TARGET","17249","1","0.000199681","5008","1","0","0","0","694","0","0","0","0","1322","0","0","0","0","978","0","0","0","0","1006","0","0","1","0.000992064","1008","1","0"]
["3:122630346","T/C",null,"PASS","0.383178","66,41",107,99,"0/1","SEMA5B","missense_variant","Missense","NM_001256347.1","NM_001256347.1:c.3245A>G","NP_001243276.1:p.Asp1082Gly","NM_001256347.1,NM_001256346.1,NM_001031702.3,NM_001256348.1","21,21,21,20","89.6628,89.1782,89.1782,88.2168","SEMA5B,SEMA5B,SEMA5B,SEMA5B","NM_001256347.1,NM_001256346.1,NM_001031702.3,NM_001256348.1","mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA","-,-,-,-","NP_001243276.1,NP_001243275.1,NP_001026872.2,NP_001243277.1","NP_001243276.1,NP_001243275.1,NP_001026872.2,NP_001243277.1","54437,54437,54437,54437","10737,10737,10737,10737","609298,609298,609298,609298","CCDS58848.1,CCDS35491.1,CCDS35491.1,CCDS74995.1",",,,","semaphorin-5B isoform 2,semaphorin-5B isoform 1,semaphorin-5B isoform 1,semaphorin-5B isoform 3 precursor",",,,","True","T/C","rs2303983","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","100","SNV","0.3922,0.6078","True","T/C","rs2303983","EX_TARGET",19505,"3044","0.607827",5008,1036,1004,"434","0.62536",694,144,145,"737","0.557489",1322,331,203,"699","0.714724",978,197,251,"814","0.809145",1006,154,330,"360","0.357143",1008,210,75,"False"]
["3:125648283","A/G",null,"PASS","0.344828","152,80",232,99,"0/1","ALG1L","missense_variant","Missense","NM_001195223.1","NM_001195223.1:c.536T>C","NP_001182152.1:p.Ile179Thr","NM_001195223.1,NM_001015050.2","7,6","85.7372,84.2199","ALG1L,ALG1L","NM_001195223.1,NM_001015050.2","mRNA,mRNA","mRNA,mRNA","-,-","NP_001182152.1,NP_001015050.2","NP_001182152.1,NP_001015050.2","200810,200810","33721,33721",",","CCDS74998.1,CCDS33840.1",",","putative glycosyltransferase ALG1-like isoform 1,putative glycosyltransferase ALG1-like isoform 2",",","True","A/G","rs3811679","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","107","SNV","0.7678,0.2322","True","A/G","rs3811679","EX_TARGET",15424,"1163","0.232228",5008,775,194,"105","0.151297",694,89,8,"634","0.479576",1322,330,152,"144","0.147239",978,116,14,"172","0.170974",1006,148,12,"108","0.107143",1008,92,8,"False"]
["3:128847686","G/T",null,"QUAL30","0.666667","1,2",3,32,"0/1","ISY1,ISY1-RAB43","3_prime_UTR_variant","Other","NM_001199469.1,NM_001204890.1","NM_001199469.1:c.*1238C>A,NM_001204890.1:c.851+1245C>A",",","NM_001204890.1,NM_001199469.1,NM_020701.3","11,12,11",",,","ISY1-RAB43,ISY1,ISY1","NM_001204890.1,NM_001199469.1,NM_020701.3","mRNA,mRNA,mRNA","mRNA,mRNA,mRNA","-,-,-","NP_001191819.1,NP_001186398.1,NP_065752.1","NP_001191819.1,NP_001186398.1,NP_065752.1","100534599,57461,57461","42969,29201,29201",",612764,612764","CCDS56276.1,CCDS56277.1,CCDS43149.1",",13834,13834","ISY1-RAB43 protein,pre-mRNA-splicing factor ISY1 homolog isoform 1,pre-mRNA-splicing factor ISY1 homolog isoform 2",",,","False",{"$nulls":41},"False"]
["3:134075326","G/C",null,"PASS","0.704225","42,100",142,99,"0/1","AMOTL2","3_prime_UTR_variant","Other","NM_001278683.1","NM_001278683.1:c.*1221C>G",null,"NM_001278685.1,NM_016201.3,NM_001278683.1","10,10,10",",,","AMOTL2,AMOTL2,AMOTL2","NM_001278685.1,NM_016201.3,NM_001278683.1","mRNA,mRNA,mRNA","mRNA,mRNA,mRNA","-,-,-","NP_001265614.1,NP_057285.3,NP_001265612.1","NP_001265614.1,NP_057285.3,NP_001265612.1","51421,51421,51421","17812,17812,17812","614658,614658,614658","CCDS63783.1,CCDS33860.1,CCDS63784.1","16485,16485,16485","angiomotin-like protein 2 isoform 3,angiomotin-like protein 2 isoform 2,angiomotin-like protein 2 isoform 1",",,","True","G/C","rs9450","RS orientation is reversed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","52","SNV","0.1849,0.8151","True","G/C","rs9450",null,16725,"4082","0.815096",5008,666,1708,"501","0.721902",694,143,179,"1265","0.956883",1322,51,607,"771","0.788344",978,161,305,"612","0.60835",1006,246,183,"933","0.925595",1008,65,434,"False"]
["3:150280445","C/G",null,"PASS","0.362637","116,66",182,99,"0/1","EIF2A","missense_variant","Missense","NM_032025.4","NM_032025.4:c.290C>G","NP_114414.2:p.Thr97Ser","NM_001319044.1,NM_001319046.1,NM_032025.4,NM_001319043.1,NM_001319045.1","4,4,4,3,4","18.3492,,16.4391,12.7154,15.72","EIF2A,EIF2A,EIF2A,EIF2A,EIF2A","NM_001319044.1,NM_001319046.1,NM_032025.4,NM_001319043.1,NM_001319045.1","mRNA,mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA,mRNA","+,+,+,+,+","NP_001305973.1,NP_001305975.1,NP_114414.2,NP_001305972.1,NP_001305974.1","NP_001305973.1,NP_001305975.1,NP_114414.2,NP_001305972.1,NP_001305974.1","83939,83939,83939,83939,83939","3254,3254,3254,3254,3254","609234,609234,609234,609234,609234","CCDS82859.1,,CCDS46935.1,CCDS82861.1,CCDS82860.1","11739,11739,11739,11739,11739","eukaryotic translation initiation factor 2A isoform 3,eukaryotic translation initiation factor 2A isoform 5,eukaryotic translation initiation factor 2A isoform 1,eukaryotic translation initiation factor 2A isoform 2,eukaryotic translation initiation factor 2A isoform 4",",,,,","True","C/G","rs1132979","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,In 5' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","86","SNV","0.6458,0.3542","True","C/G","rs1132979","EX_TARGET",16648,"1774","0.354233",5008,1032,371,"252","0.363112",694,166,43,"213","0.16112",1322,177,18,"458","0.468303",978,234,112,"361","0.358847",1006,221,70,"490","0.486111",1008,234,128,"False"]
["3:158362391","C/T",null,"PASS","0.38835","63,40",103,99,"0/1","GFM1","5_prime_UTR_variant","Other","NM_024996.5","NM_024996.5:c.-33C>T",null,"NM_001308166.1,NM_001308164.1,NM_024996.5","1,1,1",",,","GFM1,GFM1,GFM1","NM_001308166.1,NM_001308164.1,NM_024996.5","mRNA,mRNA,mRNA","mRNA,mRNA,mRNA","+,+,+","NP_001295095.1,NP_001295093.1,NP_079272.4","NP_001295095.1,NP_001295093.1,NP_079272.4","85476,85476,85476","13780,13780,13780","606639,606639,606639","CCDS82867.1,CCDS77851.1,CCDS33885.1","07365,07365,07365","elongation factor G, mitochondrial isoform 3,elongation factor G, mitochondrial isoform 1,elongation factor G, mitochondrial isoform 2",",,","True","C/T","rs28372852","Has SubmitterLinkOut,In 5' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","125","SNV","0.8526,0.1474","True","C/T","rs28372852",null,13223,"738","0.147364",5008,630,54,"98","0.14121",694,82,8,"141","0.106657",1322,133,4,"151","0.154397",978,127,12,"222","0.220676",1006,180,21,"126","0.125",1008,108,9,"False",{"$nulls":36},"C/T","343918","Likely Benign","Likely Benign","Likely benign (1)","(1 Stars) Criteria Provided, Single Submitter","rs28372852","GFM1","85476","NC_000003.11:g.158362391C>T","NC_000003.12:g.158644602C>T","NM_024996.5:c.-33C>T",null,"RCV000295077","Combined oxidative phosphorylation deficiency","Likely Benign","(1 Stars) Criteria Provided, Single Submitter","2016-06-14"]
["3:158390395","A/T",null,"PASS","0.245283","40,13",53,99,"0/1","GFM1,LXN","5_prime_UTR_variant","Other","NM_024996.5,NM_020169.3","NM_024996.5:c.1601+6220A>T,NM_020169.3:c.-128T>A",",","NM_001308166.1,NM_001308164.1,NM_024996.5,NM_020169.3","13,14,13,1",",,,","GFM1,GFM1,GFM1,LXN","NM_001308166.1,NM_001308164.1,NM_024996.5,NM_020169.3","mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA","+,+,+,-","NP_001295095.1,NP_001295093.1,NP_079272.4,NP_064554.3","NP_001295095.1,NP_001295093.1,NP_079272.4,NP_064554.3","85476,85476,85476,56925","13780,13780,13780,13347","606639,606639,606639,609305","CCDS82867.1,CCDS77851.1,CCDS33885.1,CCDS3183.1","07365,07365,07365,","elongation factor G, mitochondrial isoform 3,elongation factor G, mitochondrial isoform 1,elongation factor G, mitochondrial isoform 2,latexin",",,,","True","A/T","rs9841","RS orientation is reversed,Has SubmitterLinkOut,In 5' UTR,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","52","SNV","0.5909,0.4091","True","A/T","rs9841",null,17072,"2049","0.409145",5008,1047,501,"235","0.338617",694,143,46,"845","0.639183",1322,297,274,"395","0.403885",978,225,85,"387","0.384692",1006,233,77,"187","0.185516",1008,149,19,"False"]
["3:179504569","C/T",null,"PASS","0.375","5,3",8,91,"0/1","USP13","3_prime_UTR_variant","Other","NM_003940.2","NM_003940.2:c.*2640C>T",null,"NM_003940.2","21",null,"USP13","NM_003940.2","mRNA","mRNA","+","NP_003931.2","NP_003931.2","8975","12611","603591","CCDS3235.1",null,"ubiquitin carboxyl-terminal hydrolase 13",null,"False",{"$nulls":41},"False"]
["3:184064105","T/C",null,"PASS","0.416667","7,5",12,99,"0/1","CLCN2","3_prime_UTR_variant","Other","NM_004366.5","NM_004366.5:c.*289A>G",null,"NM_004366.5,NM_001171089.2,NM_001171087.2,NM_001171088.2","24,23,24,23",",,,","CLCN2,CLCN2,CLCN2,CLCN2","NM_004366.5,NM_001171089.2,NM_001171087.2,NM_001171088.2","mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA","-,-,-,-","NP_004357.3,NP_001164560.1,NP_001164558.1,NP_001164559.1","NP_004357.3,NP_001164560.1,NP_001164558.1,NP_001164559.1","1181,1181,1181,1181","2020,2020,2020,2020","600570,600570,600570,600570","CCDS3263.1,CCDS54692.1,CCDS54691.1,CCDS54690.1",",,,","chloride channel protein 2 isoform 1,chloride channel protein 2 isoform 4,chloride channel protein 2 isoform 2,chloride channel protein 2 isoform 3",",,,","True","T/C","rs184669660","In 3' UTR,In Intron,In 3' gene region,Is Assembly specific,Is Validated,1000 Genome phase 1,1000 Genome phase 3","135","SNV","0.9976,0.002396","True","T/C","rs184669660",null,16985,"12","0.00239617",5008,12,0,"0","0",694,0,0,"0","0",1322,0,0,"0","0",978,0,0,"12","0.0119284",1006,12,0,"0","0",1008,0,0,"False"]
["3:187088926","G/A",null,"PASS","0.742857","54,156",210,99,"0/1","RTP4","missense_variant","Missense","NM_022147.2","NM_022147.2:c.506G>A","NP_071430.2:p.Cys169Tyr","NM_022147.2","2","68.1511","RTP4","NM_022147.2","mRNA","mRNA","+","NP_071430.2","NP_071430.2","64108","23992","609350","CCDS33910.1","17136","receptor-transporting protein 4",null,"True","G/A","rs1533594","RS orientation is reversed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","88","SNV","0.1983,0.8017","True","G/A","rs1533594","EX_TARGET",6352,"4015","0.801717",5008,713,1651,"602","0.867435",694,78,262,"800","0.605144",1322,312,244,"820","0.838446",978,128,346,"824","0.819085",1006,156,334,"969","0.96131",1008,39,465,"False"]
["3:191093384","A/G",null,"PASS","0.270073","100,37",137,99,"0/1","CCDC50","splice_region_variant","Other","NM_178335.2","NM_178335.2:c.976+6A>G",null,"NM_174908.3,NM_178335.2","6,6",",","CCDC50,CCDC50","NM_174908.3,NM_178335.2","mRNA,mRNA","mRNA,mRNA","+,+","NP_777568.1,NP_848018.1","NP_777568.1,NP_848018.1","152137,152137","18111,18111","611051,611051","CCDS33913.1,CCDS33912.1","06463,06463","coiled-coil domain-containing protein 50 short isoform,coiled-coil domain-containing protein 50 long isoform",",","True","A/G","rs4677729","Has SubmitterLinkOut,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","111","SNV","0.4984,0.5016","True","A/G","rs4677729","EX_TARGET",21084,"2512","0.501597",5008,1148,682,"325","0.4683",694,175,75,"956","0.723147",1322,254,351,"344","0.351738",978,226,59,"413","0.410537",1006,241,86,"474","0.470238",1008,252,111,"True","esv3599095;esv3599096,esv3599095;esv3599096","Loss,Gain","<CN0>,<CN2>","DUP_uwash,DUP_uwash","EX_TARGET,EX_TARGET","19340,19340","1,1","0.000199681,0.000199681","5008,5008","1,1","0,0","1,0","0.00144092,0","694,694","1,0","0,0","0,1","0,0.00075643","1322,1322","0,1","0,0","0,0","0,0","978,978","0,0","0,0","0,0","0,0","1006,1006","0,0","0,0","0,0","0,0","1008,1008","0,0","0,0","A/G","48160","Benign","Benign","Benign (3)","(2 Stars) Criteria Provided, Multiple Submitters, No Conflicts","rs4677729","CCDC50","152137","NC_000003.11:g.191093384A>G","NC_000003.12:g.191375595A>G","NM_178335.2:c.976+6A>G",null,"RCV000041450","not specified","Benign","(2 Stars) Criteria Provided, Multiple Submitters, No Conflicts","2017-05-09"]
["3:195242593","T/G",null,"PASS","0.2","12,3",15,52,"0/1","PPP1R2","3_prime_UTR_variant","Other","NM_001291504.1","NM_001291504.1:c.*1101A>C",null,"NM_001316325.1,NM_001291505.1,NM_001291504.1,NM_006241.7","7,5,6,6",",,,","PPP1R2,PPP1R2,PPP1R2,PPP1R2","NM_001316325.1,NM_001291505.1,NM_001291504.1,NM_006241.7","mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA","-,-,-,-","NP_001303254.1,NP_001278434.1,NP_001278433.1,NP_006232.1","NP_001303254.1,NP_001278434.1,NP_001278433.1,NP_006232.1","5504,5504,5504,5504","9288,9288,9288,9288","601792,601792,601792,601792",",,,CCDS3309.1",",,,","protein phosphatase inhibitor 2 isoform 4,protein phosphatase inhibitor 2 isoform 3,protein phosphatase inhibitor 2 isoform 1,protein phosphatase inhibitor 2 isoform 2",",,,","True","T/G","rs1136","RS orientation is reversed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","36","SNV","0.6851,0.3149","True","T/G","rs1136",null,18285,"1577","0.314896",5008,913,332,"383","0.551873",694,139,122,"71","0.0537065",1322,65,3,"346","0.353783",978,238,54,"305","0.303181",1006,219,43,"472","0.468254",1008,252,110,"False"]
["3:195473757","G/T",null,"MQ40","0.421053","22,16",38,99,"0/1","MUC4","3_prime_UTR_variant","Other","NM_018406.6","NM_018406.6:c.*290C>A",null,"NM_018406.6,NM_138297.4,NM_004532.5","25,23,24",",,","MUC4,MUC4,MUC4","NM_018406.6,NM_138297.4,NM_004532.5","mRNA,mRNA,mRNA","mRNA,mRNA,mRNA","-,-,-","NP_060876.5,NP_612154.2,NP_004523.3","NP_060876.5,NP_612154.2,NP_004523.3","4585,4585,4585","7514,7514,7514","158372,158372,158372","CCDS54700.1,CCDS3311.1,CCDS3310.1",",,","mucin-4 isoform a precursor,mucin-4 isoform e precursor,mucin-4 isoform d precursor",",,","True","G/T","rs2641726","RS orientation is reversed,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 3","100","SNV","0.5268,0.4732","True","G/T","rs2641726",null,29778,"2370","0.473243",5008,1418,476,"316","0.455331",694,246,35,"327","0.247352",1322,293,17,"505","0.51636",978,319,93,"450","0.447316",1006,346,52,"772","0.765873",1008,214,279,"False"]
["3:195507827","G/A",null,"MQ40,QD2,QUAL30","0.654472","85,161",252,39,"0/1","MUC4","missense_variant","Missense","NM_018406.6","NM_018406.6:c.10624C>T","NP_060876.5:p.Leu3542Phe","NM_018406.6,NM_138297.4,NM_004532.5","2,2,2","65.4166,,","MUC4,MUC4,MUC4","NM_018406.6,NM_138297.4,NM_004532.5","mRNA,mRNA,mRNA","mRNA,mRNA,mRNA","-,-,-","NP_060876.5,NP_612154.2,NP_004523.3","NP_060876.5,NP_612154.2,NP_004523.3","4585,4585,4585","7514,7514,7514","158372,158372,158372","CCDS54700.1,CCDS3311.1,CCDS3310.1",",,","mucin-4 isoform a precursor,mucin-4 isoform e precursor,mucin-4 isoform d precursor",",,","True","G/A/T","rs879682876","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Has synonymous A coding region,In Intron,Is Assembly specific,5% minor allele frequency in 1+ populations,1000 Genome phase 3","149","SNV","0.4702,0.5298,","True","G/A","rs373469782",null,12177,"2653","0.529752",5008,853,900,"313","0.451009",694,115,99,"735","0.555976",1322,207,264,"447","0.457055",978,211,118,"505","0.501988",1006,157,174,"653","0.647817",1008,163,245,"False"]
["3:195515003","T/C",null,"MQ40","0.952381","2,40",42,99,"0/1","MUC4","missense_variant","Missense","NM_018406.6","NM_018406.6:c.3448A>G","NP_060876.5:p.Thr1150Ala","NM_018406.6,NM_138297.4,NM_004532.5","2,2,2","21.2267,,","MUC4,MUC4,MUC4","NM_018406.6,NM_138297.4,NM_004532.5","mRNA,mRNA,mRNA","mRNA,mRNA,mRNA","-,-,-","NP_060876.5,NP_612154.2,NP_004523.3","NP_060876.5,NP_612154.2,NP_004523.3","4585,4585,4585","7514,7514,7514","158372,158372,158372","CCDS54700.1,CCDS3311.1,CCDS3310.1",",,","mucin-4 isoform a precursor,mucin-4 isoform e precursor,mucin-4 isoform d precursor",",,","True","T/C","rs76196931","Has non-synonymous missense A coding region,Has reference A coding region,Has synonymous A coding region,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","131","SNV","0.8832,0.1168","True","T/C","rs76196931",null,12213,"585","0.116813",5008,379,103,"71","0.102305",694,51,10,"48","0.0363086",1322,36,6,"123","0.125767",978,77,23,"136","0.135189",1006,92,22,"207","0.205357",1008,123,42,"False"]
["4:1642374","A/G",null,"PASS","0.571429","3,4",7,74,"0/1","FAM53A","3_prime_UTR_variant","Other","NM_001013622.3","NM_001013622.3:c.*646T>C",null,"NM_001013622.3,NM_001297435.1,NM_001174070.2","5,6,5",",,","FAM53A,FAM53A,FAM53A","NM_001013622.3,NM_001297435.1,NM_001174070.2","mRNA,mRNA,mRNA","mRNA,mRNA,mRNA","-,-,-","NP_001013644.1,NP_001284364.1,NP_001167541.1","NP_001013644.1,NP_001284364.1,NP_001167541.1","152877,152877,152877","31860,31860,31860","617229,617229,617229","CCDS33939.1,CCDS75091.1,CCDS33939.1",",,","protein FAM53A isoform 1,protein FAM53A isoform 2,protein FAM53A isoform 1",",,","True","A/G","rs7376928","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","126","SNV","0.3594,0.6406","True","A/G","rs7376928",null,17431,"3208","0.640575",5008,944,1132,"464","0.668588",694,154,155,"1243","0.940242",1322,71,586,"524","0.535787",978,260,132,"647","0.643141",1006,233,207,"330","0.327381",1008,226,52,"False"]
["4:3514237","A/C",null,"PASS","0.4","3,2",5,75,"0/1","LRPAP1","3_prime_UTR_variant","Other","NM_002337.3","NM_002337.3:c.*464T>G",null,"NM_002337.3","8",null,"LRPAP1","NM_002337.3","mRNA","mRNA","-","NP_002328.1","NP_002328.1","4043","6701","104225","CCDS3371.1","00082","alpha-2-macroglobulin receptor-associated protein precursor",null,"True","A/C","rs1794438","RS orientation is reversed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","89","SNV","0.2446,0.7554","True","A/C","rs1794438",null,16714,"3783","0.755391",5008,897,1443,"562","0.809798",694,108,227,"840","0.635401",1322,330,255,"785","0.802658",978,155,315,"674","0.66998",1006,224,225,"922","0.914683",1008,80,421,"False"]
["4:6324803","T/C",null,"SOR3","0.75","2,6",8,57,"0/1","PPP2R2C","3_prime_UTR_variant","Other","NM_020416.3","NM_020416.3:c.*226A>G",null,"NM_181876.2,NM_001206996.1,NM_020416.3,NM_001206995.1,NM_001206994.1","9,10,9,10,10",",,,,","PPP2R2C,PPP2R2C,PPP2R2C,PPP2R2C,PPP2R2C","NM_181876.2,NM_001206996.1,NM_020416.3,NM_001206995.1,NM_001206994.1","mRNA,mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA,mRNA","-,-,-,-,-","NP_870991.1,NP_001193925.1,NP_065149.2,NP_001193924.1,NP_001193923.1","NP_870991.1,NP_001193925.1,NP_065149.2,NP_001193924.1,NP_001193923.1","5522,5522,5522,5522,5522","9306,9306,9306,9306,9306","605997,605997,605997,605997,605997","CCDS3388.1,CCDS56304.1,CCDS3387.1,CCDS56305.1,CCDS56305.1","09345,09345,09345,09345,09345","protein phosphatase 2, regulatory subunit B, gamma isoform b,protein phosphatase 2, regulatory subunit B, gamma isoform d,protein phosphatase 2, regulatory subunit B, gamma isoform a,protein phosphatase 2, regulatory subunit B, gamma isoform c,protein phosphatase 2, regulatory subunit B, gamma isoform c",",,,,","True","T/C","rs3796400","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","107","SNV","0.3235,0.6765","True","T/C","rs3796400",null,19340,"3388","0.676518",5008,954,1217,"463","0.667147",694,137,163,"638","0.482602",1322,344,147,"748","0.764826",978,170,289,"589","0.585487",1006,253,168,"950","0.94246",1008,50,450,"False"]
["4:8602798","G/C",null,"PASS","0.554054","33,41",74,99,"0/1","CPZ","5_prime_UTR_variant","Other","NM_001014447.2","NM_001014447.2:c.122-52G>C",null,"NM_001014447.2,NM_003652.3,NM_001014448.2","3,2,3",",,","CPZ,CPZ,CPZ","NM_001014447.2,NM_003652.3,NM_001014448.2","mRNA,mRNA,mRNA","mRNA,mRNA,mRNA","+,+,+","NP_001014447.1,NP_003643.2,NP_001014448.1","NP_001014447.1,NP_003643.2,NP_001014448.1","8532,8532,8532","2333,2333,2333","603105,603105,603105","CCDS33953.1,CCDS3404.1,CCDS43212.1",",,","carboxypeptidase Z isoform 1 precursor,carboxypeptidase Z isoform 2 precursor,carboxypeptidase Z isoform 3",",,","True","G/C","rs2241069","RS orientation is reversed,Has SubmitterLinkOut,In 5' UTR,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","98","SNV","0.3722,0.6278","True","G/C","rs2241069","EX_TARGET",16937,"3144","0.627796",5008,1098,1023,"380","0.54755",694,178,101,"747","0.565053",1322,295,226,"729","0.745399",978,191,269,"594","0.590457",1006,226,184,"694","0.688492",1008,208,243,"False"]
["4:15937526","G/A",null,"PASS","0.526316","27,30",57,99,"0/1","FGFBP1","3_prime_UTR_variant","Other","NM_005130.4","NM_005130.4:c.*25C>T",null,"NM_005130.4","3",null,"FGFBP1","NM_005130.4","mRNA","mRNA","-","NP_005121.1","NP_005121.1","9982","19695","607737","CCDS3418.1","06371","fibroblast growth factor-binding protein 1 precursor",null,"True","G/A","rs1042510","RS orientation is reversed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","86","SNV","0.7123,0.2877","True","G/A","rs1042510","EX_TARGET",20263,"1441","0.28774",5008,915,263,"181","0.260807",694,123,29,"415","0.313918",1322,295,60,"477","0.48773",978,229,124,"319","0.317097",1006,223,48,"49","0.0486111",1008,45,2,"True","esv3599744","Gain","<CN2>","DUP_gs","EX_TARGET","17525","1","0.000199681","5008","1","0","0","0","694","0","0","0","0","1322","0","0","1","0.00102249","978","1","0","0","0","1006","0","0","0","0","1008","0","0"]
["4:17910840","T/C",null,"PASS","0.5","43,43",86,99,"0/1","LCORL","missense_variant","Missense","NM_001166139.2","NM_001166139.2:c.559A>G","NP_001159611.1:p.Ile187Val","NM_153686.8,NM_001166139.2","5,5","58.3072,30.8458","LCORL,LCORL","NM_153686.8,NM_001166139.2","mRNA,mRNA","mRNA,mRNA","-,-","NP_710153.2,NP_001159611.1","NP_710153.2,NP_001159611.1","254251,254251","30776,30776","611799,611799","CCDS3425.1,CCDS54749.1",",","ligand-dependent nuclear receptor corepressor-like protein isoform 2,ligand-dependent nuclear receptor corepressor-like protein isoform 1",",","True","T/C","rs61731457","Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","129","SNV","0.998,0.001997","True","T/C","rs61731457","EX_TARGET",14835,"10","0.00199681",5008,10,0,"6","0.00864553",694,6,0,"1","0.00075643",1322,1,0,"0","0",978,0,0,"3","0.00298211",1006,3,0,"0","0",1008,0,0,"False"]
["4:39254828","A/C",null,"PASS","0.573529","58,78",136,99,"0/1","WDR19","missense_variant","Missense","NM_025132.3","NM_025132.3:c.2792A>C","NP_079408.3:p.Tyr931Ser","NM_001317924.1,NM_025132.3","24,25","65.1169,69.2728","WDR19,WDR19","NM_001317924.1,NM_025132.3","mRNA,mRNA","mRNA,mRNA","+,+","NP_001304853.1,NP_079408.3","NP_001304853.1,NP_079408.3","57728,57728","18340,18340","608151,608151",",CCDS47042.1","10489,10489","WD repeat-containing protein 19 isoform 2,WD repeat-containing protein 19 isoform 1",",","True","A/C","rs187546086","Variant is Precious,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,Marker on high density genotype kit (50K+),1000 Genome phase 1,1000 Genome phase 3,Submitted from a locus-specific database","135","SNV","0.9998,0.0001997","False","A/C","rs187546086","EX_TARGET",15957,"1","0.000199681",5008,1,0,"1","0.00144092",694,1,0,"0","0",1322,0,0,"0","0",978,0,0,"0","0",1006,0,0,"0","0",1008,0,0,"False",{"$nulls":36},"A/C","167843","Conflicting","Conflicting Interpretations Of Pathogenicity","Benign(1),Likely Benign(1),Uncertain Significance(3)","(1 Star) Criteria Provided, Conflicting Interpretations","rs187546086","WDR19","57728","NC_000004.11:g.39254828A>C","NC_000004.12:g.39253208A>C","NM_025132.3:c.2792A>C","NP_079408.3:p.Tyr931Ser","RCV000154140,RCV000278329,RCV000317115,RCV000653253,RCV000723861","not specified,Jeune thoracic dystrophy,Cranioectodermal dysplasia,Asphyxiating thoracic dystrophy 5;Senior-Loken syndrome 8,not provided","Likely Benign,Uncertain Significance,Uncertain Significance,Benign,Uncertain Significance","(1 Stars) Criteria Provided, Single Submitter,(1 Stars) Criteria Provided, Single Submitter,(1 Stars) Criteria Provided, Single Submitter,(1 Stars) Criteria Provided, Single Submitter,(1 Stars) Criteria Provided, Single Submitter","2015-10-15,2016-06-14,2016-06-14,2017-09-16,2014-04-03"]
["4:47849766","T/A",null,"PASS","0.375566","138,83",221,99,"0/1","NFXL1","3_prime_UTR_variant","Other","NM_152995.5","NM_152995.5:c.*414A>T",null,"NM_001278624.1,NM_152995.5,NM_001278623.1","23,23,23",",,","NFXL1,NFXL1,NFXL1","NM_001278624.1,NM_152995.5,NM_001278623.1","mRNA,mRNA,mRNA","mRNA,mRNA,mRNA","-,-,-","NP_001265553.1,NP_694540.3,NP_001265552.1","NP_001265553.1,NP_694540.3,NP_001265552.1","152518,152518,152518","18726,18726,18726",",,","CCDS3478.2,CCDS3478.2,CCDS3478.2",",,","NF-X1-type zinc finger protein NFXL1,NF-X1-type zinc finger protein NFXL1,NF-X1-type zinc finger protein NFXL1",",,","True","T/A","rs10517201","Has SubmitterLinkOut,In 3' UTR,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","119","SNV","0.7492,0.2508","True","T/A","rs10517201",null,16524,"1256","0.250799",5008,782,237,"269","0.387608",694,155,57,"60","0.0453858",1322,58,1,"415","0.424335",978,231,92,"424","0.421471",1006,260,82,"88","0.0873016",1008,78,5,"False"]
["4:55991731","T/C",null,"PASS","0.526316","9,10",19,99,"0/1","KDR","5_prime_UTR_variant","Other","NM_002253.2","NM_002253.2:c.-271A>G",null,"NM_002253.2","1",null,"KDR","NM_002253.2","mRNA","mRNA","-","NP_002244.1","NP_002244.1","3791","6307","191306","CCDS3497.1","01867","vascular endothelial growth factor receptor 2 precursor",null,"True","T/C","rs7667298","Variant is Precious,Links exist to PubMed,Has SubmitterLinkOut,In 5' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","116","SNV","0.5014,0.4986","True","T/C","rs7667298",null,11479,"2497","0.498602",5008,1161,668,"456","0.657061",694,152,152,"381","0.2882",1322,275,53,"443","0.452965",978,249,97,"556","0.552684",1006,254,151,"661","0.655754",1008,231,215,"False"]
["4:71201653","G/A",null,"PASS","0.369369","70,41",111,99,"0/1","CABS1","missense_variant","Missense","NM_033122.3","NM_033122.3:c.897G>A","NP_149113.3:p.Met299Ile","NM_033122.3","1","75.4209","CABS1","NM_033122.3","mRNA","mRNA","+","NP_149113.3","NP_149113.3","85438","30710",null,"CCDS3539.1",null,"calcium-binding and spermatid-specific protein 1",null,"False",{"$nulls":41},"False"]
["4:77958765","A/G",null,"PASS","0.285714","10,4",14,99,"0/1","SEPT11","3_prime_UTR_variant","Other","NM_001306147.1","NM_001306147.1:c.*3100A>G",null,"NM_001306147.1,NM_018243.3","12,10",",","SEPT11,SEPT11","NM_001306147.1,NM_018243.3","mRNA,mRNA","mRNA,mRNA","+,+","NP_001293076.1,NP_060713.1","NP_001293076.1,NP_060713.1","55752,55752","25589,25589","612887,612887","CCDS77931.1,CCDS34018.1","08555,08555","septin-11 isoform 1,septin-11 isoform 2",",","True","A/G","rs1127595","Has SubmitterLinkOut,In 3' UTR,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","86","SNV","0.4537,0.5463","True","A/G","rs1127595",null,17958,"2736","0.546326",5008,1118,809,"372","0.536023",694,162,105,"895","0.677005",1322,287,304,"435","0.444785",978,213,111,"386","0.383698",1006,232,77,"648","0.642857",1008,224,212,"False"]
["4:88312293","A/T",null,"PASS","0.5625","14,18",32,99,"0/1","HSD17B11","5_prime_UTR_variant","Other","NM_016245.4","NM_016245.4:c.-71T>A",null,"NM_016245.4","1",null,"HSD17B11","NM_016245.4","mRNA","mRNA","-","NP_057329.3","NP_057329.3","51170","22960","612831","CCDS3619.1",null,"estradiol 17-beta-dehydrogenase 11 precursor",null,"True","A/T","rs28654511","Has SubmitterLinkOut,In 5' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","125","SNV","0.5895,0.4105","True","A/T","rs28654511",null,15579,"2056","0.410543",5008,1162,447,"334","0.481268",694,184,75,"505","0.381997",1322,291,107,"358","0.366053",978,232,63,"514","0.510934",1006,238,138,"345","0.342262",1008,217,64,"True","esv3601271,esv3601274","Loss,Loss","<CN0>,<CN0>","DUP_uwash,DEL_union","EX_TARGET,EX_TARGET","14776,14845","1,1","0.000199681,0.000199681","5008,5008","1,1","0,0","0,0","0,0","694,694","0,0","0,0","1,1","0.00075643,0.00075643","1322,1322","1,1","0,0","0,0","0,0","978,978","0,0","0,0","0,0","0,0","1006,1006","0,0","0,0","0,0","0,0","1008,1008","0,0","0,0"]
["4:100228945","T/C",null,"PASS","0.431655","79,60",139,99,"0/1","ADH1B","3_prime_UTR_variant","Other","NM_000668.5","NM_000668.5:c.*52A>G",null,"NM_000668.5,NM_001286650.1","9,10",",","ADH1B,ADH1B","NM_000668.5,NM_001286650.1","mRNA,mRNA","mRNA,mRNA","-,-","NP_000659.2,NP_001273579.1","NP_000659.2,NP_001273579.1","125,125","250,250","103720,103720","CCDS34033.1,CCDS68761.1",",","alcohol dehydrogenase 1B isoform 1,alcohol dehydrogenase 1B isoform 2",",","True","T/C","rs17033","RS orientation is reversed,Variant is Precious,Links exist to PubMed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","60","SNV","0.891,0.109","True","T/C","rs17033","EX_TARGET",19604,"546","0.109026",5008,420,63,"230","0.331412",694,122,54,"96","0.0726172",1322,90,3,"37","0.0378323",978,37,0,"94","0.0934394",1006,86,4,"89","0.0882936",1008,85,2,"False"]
["4:103174321","C/T",null,"PASS","0.47619","11,10",21,99,"0/1","SLC39A8","3_prime_UTR_variant","Other","NM_001135147.1","NM_001135147.1:c.*258G>A",null,"NM_001135147.1","11",null,"SLC39A8","NM_001135147.1","mRNA","mRNA","-","NP_001128619.1","NP_001128619.1","64116","20862","608732","CCDS47117.1",null,"zinc transporter ZIP8 isoform b precursor",null,"True","C/G/T","rs35608353","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,1000 Genome phase 3","126","SNV","0.5016,,0.4984","True","C/T","rs35608353",null,18514,"2496","0.498403",5008,1246,625,"344","0.495677",694,180,82,"743","0.562027",1322,335,204,"407","0.416155",978,223,92,"563","0.559642",1006,251,156,"439","0.435516",1008,257,91,"False"]
["4:106196829","T/G",null,"PASS","0.512821","38,40",78,99,"0/1","TET2","missense_variant","Missense","NM_001127208.2","NM_001127208.2:c.5162T>G","NP_001120680.1:p.Leu1721Trp","NM_001127208.2","11","85.8878","TET2","NM_001127208.2","mRNA","mRNA","+","NP_001120680.1","NP_001120680.1","54790","25941","612839","CCDS47120.1",null,"methylcytosine dioxygenase TET2 isoform a","LRG_626t1","True","T/G","rs34402524","Variant is Precious,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3,Submitted from a locus-specific database","126","SNV","0.9083,0.09165","True","T/G","rs34402524",null,23039,"459","0.0916534",5008,413,23,"62","0.0893372",694,56,3,"121","0.091528",1322,113,4,"88","0.0899796",978,76,6,"141","0.140159",1006,123,9,"47","0.046627",1008,45,1,"False",{"$nulls":36},"T/G","135300","Other","Not Provided","not provided (1)","(0 Stars) No Assertion Provided","rs34402524","TET2,TET2-AS1","54790,104384744","NC_000004.11:g.106196829T>G","NC_000004.12:g.105275672T>G","NM_001127208.2:c.5162T>G","NP_001120680.1:p.Leu1721Trp","RCV000122115","not specified","Not Provided","(0 Stars) No Assertion Provided","2013-09-19"]
["4:113198805","G/C",null,"SOR3","0.666667","3,6",9,92,"0/1","TIFA","3_prime_UTR_variant","Other","NM_052864.2","NM_052864.2:c.*213C>G",null,"NM_052864.2","2",null,"TIFA","NM_052864.2","mRNA","mRNA","-","NP_443096.1","NP_443096.1","92610","19075","609028","CCDS34051.1","09835","TRAF-interacting protein with FHA domain-containing protein A",null,"True","G/C","rs701758","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","86","SNV","0.3504,0.6496","True","G/C","rs701758",null,19556,"3253","0.649561",5008,921,1166,"439","0.632565",694,149,145,"1180","0.892587",1322,128,526,"368","0.376278",978,206,81,"509","0.505964",1006,247,131,"757","0.750992",1008,191,283,"False"]
["4:120239878","G/A",null,"PASS","0.4","3,2",5,64,"0/1","FABP2","3_prime_UTR_variant","Other","NM_000134.3","NM_000134.3:c.*318C>T",null,"NM_000134.3","4",null,"FABP2","NM_000134.3","mRNA","mRNA","-","NP_000125.2","NP_000125.2","2169","3556","134640","CCDS3712.1",null,"fatty acid-binding protein, intestinal",null,"True","G/A","rs11724758","Variant is Precious,Links exist to PubMed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","120","SNV","0.5613,0.4387","True","G/A","rs11724758",null,15981,"2197","0.438698",5008,1193,502,"283","0.407781",694,167,58,"745","0.56354",1322,313,216,"276","0.282209",978,194,41,"451","0.44831",1006,261,95,"442","0.438492",1008,258,92,"True","esv3601966","Gain","<CN2>","DUP_gs","EX_TARGET","18430","2","0.000399361","5008","2","0","0","0","694","0","0","0","0","1322","0","0","0","0","978","0","0","0","0","1006","0","0","2","0.00198413","1008","2","0"]
["4:128814964","G/T",null,"PASS","0.595506","36,53",89,99,"0/1","PLK4","missense_variant","Missense","NM_014264.4","NM_014264.4:c.2490G>T","NP_055079.3:p.Glu830Asp","NM_014264.4,NM_001190799.1,NM_001190801.1","13,12,13","85.4446,84.9485,84.8029","PLK4,PLK4,PLK4","NM_014264.4,NM_001190799.1,NM_001190801.1","mRNA,mRNA,mRNA","mRNA,mRNA,mRNA","+,+,+","NP_055079.3,NP_001177728.1,NP_001177730.1","NP_055079.3,NP_001177728.1,NP_001177730.1","10733,10733,10733","11397,11397,11397","605031,605031,605031","CCDS3735.1,CCDS54803.1,CCDS54804.1",",,","serine/threonine-protein kinase PLK4 isoform 1,serine/threonine-protein kinase PLK4 isoform 2,serine/threonine-protein kinase PLK4 isoform 3",",,","True","G/T","rs17012739","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","123","SNV","0.2576,0.7424","True","G/T","rs17012739","EX_TARGET",18817,"3718","0.742412",5008,936,1391,"537","0.773775",694,125,206,"1057","0.799546",1322,207,425,"756","0.773006",978,180,288,"689","0.684891",1006,197,246,"679","0.673611",1008,227,226,"False"]
["4:154514965","T/C",null,"PASS","0.375","60,36",96,99,"0/1","KIAA0922","missense_variant","Missense","NM_001131007.1","NM_001131007.1:c.1937T>C","NP_001124479.1:p.Met646Thr","NM_001131007.1,NM_015196.3","19,19","40.0579,40.0207","KIAA0922,KIAA0922","NM_001131007.1,NM_015196.3","mRNA,mRNA","mRNA,mRNA","+,+","NP_001124479.1,NP_056011.3","NP_001124479.1,NP_056011.3","23240,23240","29146,29146","616243,616243","CCDS47148.1,CCDS3783.2",",","transmembrane protein 131-like isoform 1 precursor,transmembrane protein 131-like isoform 2 precursor",",","True","T/C","rs17370297","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","123","SNV","0.7738,0.2262","True","T/C","rs17370297","EX_TARGET",17835,"1133","0.226238",5008,873,130,"150","0.216138",694,108,21,"197","0.149017",1322,173,12,"238","0.243354",978,186,26,"309","0.307157",1006,209,50,"239","0.237103",1008,197,21,"False"]
["4:154669886","C/G",null,"PASS","0.515152","32,34",66,99,"0/1","RNF175","missense_variant","Missense","NM_173662.2","NM_173662.2:c.157G>C","NP_775933.1:p.Val53Leu","NM_173662.2","3","15.8055","RNF175","NM_173662.2","mRNA","mRNA","-","NP_775933.1","NP_775933.1","285533","27735",null,"CCDS47149.1","15262","RING finger protein 175",null,"True","C/G","rs34803482","RS orientation is reversed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,In Intron,Is Assembly specific,Is Validated,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","126","SNV","0.9928,0.007188","True","C/G","rs34803482","EX_TARGET",17785,"36","0.0071885",5008,34,1,"6","0.00864553",694,6,0,"4","0.00302572",1322,4,0,"5","0.00511247",978,3,1,"21","0.0208748",1006,21,0,"0","0",1008,0,0,"False"]
["4:159894277","T/C",null,"PASS","0.511628","42,44",86,99,"0/1","C4orf45","missense_variant","Missense","NM_152543.2","NM_152543.2:c.251A>G","NP_689756.2:p.Tyr84Cys","NM_152543.2","2","44.5633","C4orf45","NM_152543.2","mRNA","mRNA","-","NP_689756.2","NP_689756.2","152940","26342",null,"CCDS47156.1",null,"uncharacterized protein C4orf45",null,"True","T/C","rs17037858","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","123","SNV","0.9173,0.08267","True","T/C","rs17037858","EX_TARGET",17528,"414","0.0826677",5008,362,26,"19","0.0273775",694,17,1,"109","0.0824508",1322,99,5,"30","0.0306748",978,28,1,"34","0.0337972",1006,30,2,"222","0.220238",1008,188,17,"False"]
["4:169606649","C/A",null,"PASS","0.572519","56,75",131,99,"0/1","PALLD","missense_variant","Missense","NM_001166108.1","NM_001166108.1:c.1274C>A","NP_001159580.1:p.Thr425Asn","NM_001166108.1,NM_016081.3,NM_001166109.1","6,6,5","37.7521,38.3318,5.4413","PALLD,PALLD,PALLD","NM_001166108.1,NM_016081.3,NM_001166109.1","mRNA,mRNA,mRNA","mRNA,mRNA,mRNA","+,+,+","NP_001159580.1,NP_057165.3,NP_001159581.1","NP_001159580.1,NP_057165.3,NP_001159581.1","23022,23022,23022","17068,17068,17068","608092,608092,608092","CCDS54818.1,CCDS34098.1,CCDS54819.1",",,","palladin isoform 1,palladin isoform 2,palladin isoform 3",",,","True","C/A","rs62333891","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","129","SNV","0.871,0.129","True","C/A","rs62333891","EX_TARGET",19036,"646","0.128994",5008,534,56,"136","0.195965",694,98,19,"275","0.208018",1322,223,26,"75","0.0766871",978,65,5,"79","0.0785288",1006,71,4,"81","0.0803571",1008,77,2,"False",{"$nulls":36},"C/A","348036","Benign","Benign","Benign (1)","(1 Stars) Criteria Provided, Single Submitter","rs62333891","PALLD","23022","NC_000004.11:g.169606649C>A","NC_000004.12:g.168685498C>A","NM_001166108.1:c.1274C>A","NP_001159580.1:p.Thr425Asn","RCV000332460","Carcinoma of pancreas","Benign","(1 Stars) Criteria Provided, Single Submitter","2016-06-14"]
["4:185616167","A/C",null,"PASS","0.333333","8,4",12,98,"0/1","CENPU","3_prime_UTR_variant","Other","NM_024629.3","NM_024629.3:c.*275T>G",null,"NM_024629.3","13",null,"CENPU","NM_024629.3","mRNA","mRNA","-","NP_078905.2","NP_078905.2","79682","21348","611511","CCDS3838.1","14722","centromere protein U",null,"True","A/C","rs6826883","Has SubmitterLinkOut,In 3' UTR,In Intron,In 3' gene region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","116","SNV","0.854,0.146","True","A/C","rs6826883",null,18117,"731","0.145966",5008,557,87,"96","0.138329",694,82,7,"395","0.29879",1322,275,60,"90","0.0920245",978,80,5,"149","0.148111",1006,119,15,"1","0.000992064",1008,1,0,"False"]
["4:187078785","A/G",null,"PASS","0.42236","93,68",161,99,"0/1","FAM149A","missense_variant","Missense","NM_015398.2","NM_015398.2:c.641A>G","NP_056213.1:p.His214Arg","NM_015398.2,NM_001006655.2","8,7","44.1684,44.1684","FAM149A,FAM149A","NM_015398.2,NM_001006655.2","mRNA,mRNA","mRNA,mRNA","+,+","NP_056213.1,NP_001006656.1","NP_056213.1,NP_001006656.1","25854,25854","24527,24527",",","CCDS34117.1,CCDS34117.1","16810,16810","protein FAM149A,protein FAM149A",",","True","A/G","rs2276924","RS orientation is reversed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","100","SNV","0.1104,0.8896","True","A/G","rs2276924","EX_TARGET",16832,"4455","0.889577",5008,473,1991,"597","0.860231",694,91,253,"1268","0.959153",1322,50,609,"859","0.878323",978,101,379,"900","0.894632",1006,88,406,"831","0.824405",1008,143,344,"True","esv3603517,esv3603518;esv3603519,esv3603518;esv3603519","Gain,Gain,Gain","<CN2>,<CN2>,<CN3>","DUP_delly,DUP_uwash,DUP_uwash","IMPRECISE,EX_TARGET,EX_TARGET,EX_TARGET","20617,18433,18433","11,2,10","0.00219649,0.000399361,0.00199681","5008,5008,5008","9,2,10","1,0,0","0,1,0","0,0.00144092,0","694,694,694","0,1,0","0,0,0","0,0,0","0,0,0","1322,1322,1322","0,0,0","0,0,0","11,1,10","0.0112474,0.00102249,0.0102249","978,978,978","9,1,10","1,0,0","0,0,0","0,0,0","1006,1006,1006","0,0,0","0,0,0","0,0,0","0,0,0","1008,1008,1008","0,0,0","0,0,0"]
["5:14509521","A/G",null,"FS60,SOR3","0.19403","54,13",67,99,"0/1","TRIO","3_prime_UTR_variant","Other","NM_007118.3","NM_007118.3:c.*990A>G",null,"NM_007118.3","57",null,"TRIO","NM_007118.3","mRNA","mRNA","+","NP_009049.2","NP_009049.2","7204","12303","601893","CCDS3883.1",null,"triple functional domain protein",null,"False",{"$nulls":41},"False"]
["6:351156","C/T",null,"PASS","0.533333","7,8",15,99,"0/1","DUSP22","3_prime_UTR_variant","Other","NM_001286555.1","NM_001286555.1:c.*2205C>T",null,"NM_001286555.1,NM_020185.4","7,8",",","DUSP22,DUSP22","NM_001286555.1,NM_020185.4","mRNA,mRNA","mRNA,mRNA","+,+","NP_001273484.1,NP_064570.1","NP_001273484.1,NP_064570.1","56940,56940","16077,16077","616778,616778","CCDS69035.1,CCDS4468.1",",","dual specificity protein phosphatase 22 isoform a,dual specificity protein phosphatase 22 isoform b",",","True","C/T","rs1046656","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available","86","SNV",{"$nulls":36},"True","esv3607835,esv3607848;esv3607849;esv3607850,esv3607848;esv3607849;esv3607850,esv3607848;esv3607849;esv3607850","Loss,Gain,Gain,Gain","<CN0>,<CN2>,<CN3>,<CN4>","DUP_uwash,DUP_gs,DUP_gs,DUP_gs","EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET","5702,35797,35797,35797","1,4155,75,9","0.000199681,0.829673,0.014976,0.00179712","5008,5008,5008,5008","1,713,75,9","0,1721,0,0","0,543,12,3","0,0.782421,0.0172911,0.00432277","694,694,694,694","0,123,12,3","0,210,0,0","0,1182,15,0","0,0.8941,0.0113464,0","1322,1322,1322,1322","0,130,15,0","0,526,0,0","1,859,11,0","0.00102249,0.878323,0.0112474,0","978,978,978,978","1,101,11,0","0,379,0,0","0,802,22,4","0,0.797217,0.0218688,0.00397614","1006,1006,1006,1006","0,174,22,4","0,314,0,0","0,769,15,2","0,0.762897,0.014881,0.00198413","1008,1008,1008,1008","0,185,15,2","0,292,0,0"]
["6:57398270","C/T",null,"PASS","0.244604","105,34",139,99,"0/1","PRIM2","stop_gained","LoF","NM_000947.4","NM_000947.4:c.973C>T","NP_000938.2:p.Gln325Ter","NM_000947.4","10","63.5294","PRIM2","NM_000947.4","mRNA","mRNA","+","NP_000938.2","NP_000938.2","5558","9370","176636","CCDS75476.1",null,"DNA primase large subunit isoform a",null,"True","C/T","rs62398999","Has SubmitterLinkOut,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available","129","SNV",{"$nulls":36},"True","esv3609130;esv3609131,esv3609130;esv3609131","Loss,Gain","<CN0>,<CN2>","DUP_gs,DUP_gs","EX_TARGET,EX_TARGET","9470,9470","1,6","0.000199681,0.00119808","5008,5008","1,6","0,0","1,1","0.00144092,0.00144092","694,694","1,1","0,0","0,3","0,0.00226929","1322,1322","0,3","0,0","0,0","0,0","978,978","0,0","0,0","0,2","0,0.00198807","1006,1006","0,2","0,0","0,0","0,0","1008,1008","0,0","0,0"]
["6:126250397","T/A",null,"PASS","0.585714","29,41",70,99,"0/1","NCOA7","3_prime_UTR_variant","Other","NM_181782.4","NM_181782.4:c.*480T>A",null,"NM_001199619.1,NM_001199620.1,NM_001122842.2,NM_181782.4,NM_001199621.1,NM_001199622.1","17,18,16,16,15,6",",,,,,","NCOA7,NCOA7,NCOA7,NCOA7,NCOA7,NCOA7","NM_001199619.1,NM_001199620.1,NM_001122842.2,NM_181782.4,NM_001199621.1,NM_001199622.1","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","+,+,+,+,+,+","NP_001186548.1,NP_001186549.1,NP_001116314.1,NP_861447.3,NP_001186550.1,NP_001186551.1","NP_001186548.1,NP_001186549.1,NP_001116314.1,NP_861447.3,NP_001186550.1,NP_001186551.1","135112,135112,135112,135112,135112,135112","21081,21081,21081,21081,21081,21081","609752,609752,609752,609752,609752,609752","CCDS5132.1,CCDS5132.1,,CCDS5132.1,CCDS56448.1,CCDS83125.1",",,,,,","nuclear receptor coactivator 7 isoform 1,nuclear receptor coactivator 7 isoform 1,nuclear receptor coactivator 7 isoform 2,nuclear receptor coactivator 7 isoform 1,nuclear receptor coactivator 7 isoform 3,nuclear receptor coactivator 7 isoform 4",",,,,,","True","T/A","rs1138820","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,1000 Genome phase 3","108","SNV","0.3766,0.6234","True","T/A","rs1138820",null,11342,"3122","0.623403",5008,1192,965,"451","0.649856",694,165,143,"892","0.674735",1322,326,283,"445","0.45501",978,241,102,"622","0.61829",1006,246,188,"712","0.706349",1008,214,249,"False"]
["7:299976","G/A",null,"PASS","0.626168","40,67",107,99,"0/1","FAM20C","3_prime_UTR_variant","Other","NM_020223.3","NM_020223.3:c.*30G>A",null,"NM_020223.3","10",null,"FAM20C","NM_020223.3","mRNA","mRNA","+","NP_064608.2","NP_064608.2","56975","22140","611061","CCDS47522.1",null,"extracellular serine/threonine protein kinase FAM20C precursor",null,"True","G/A","rs36173075","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,1000 Genome phase 1,1000 Genome phase 3","126","SNV","0.7794,0.2206","True","G/A","rs36173075",null,13473,"1105","0.220647",5008,757,174,"128","0.184438",694,98,15,"33","0.0249622",1322,27,3,"290","0.296524",978,208,41,"363","0.360835",1006,219,72,"291","0.28869",1008,205,43,"True","esv3611754,esv3611764,esv3611765;esv3611766,esv3611765;esv3611766","Gain,Gain,Loss,Gain","<CN2>,<CN2>,<CN0>,<CN2>","DUP_delly,DUP_uwash,DUP_gs,DUP_gs","IMPRECISE,EX_TARGET","21532,18117,17077,17077","1,2,9,1","0.000199681,0.000399361,0.00179712,0.000199681","5008,5008,5008,5008","1,2,9,1","0,0,0,0","0,1,0,0","0,0.00144092,0,0","694,694,694,694","0,1,0,0","0,0,0,0","0,0,1,0","0,0,0.00075643,0","1322,1322,1322,1322","0,0,1,0","0,0,0,0","0,0,1,0","0,0,0.00102249,0","978,978,978,978","0,0,1,0","0,0,0,0","0,0,4,0","0,0,0.00397614,0","1006,1006,1006,1006","0,0,4,0","0,0,0,0","1,1,3,1","0.000992064,0.000992064,0.00297619,0.000992064","1008,1008,1008,1008","1,1,3,1","0,0,0,0"]
["7:4832442","C/T",null,"QUAL30","0.666667","1,2",3,31,"0/1","AP5Z1","3_prime_UTR_variant","Other","NM_014855.2","NM_014855.2:c.*1426C>T",null,"NM_014855.2","17",null,"AP5Z1","NM_014855.2","mRNA","mRNA","+","NP_055670.1","NP_055670.1","9907","22197","613653","CCDS47528.1",null,"AP-5 complex subunit zeta-1",null,"False",{"$nulls":41},"True","esv3611949","Loss","<CN0>","DEL_union","EX_TARGET","18380","2","0.000399361","5008","2","0","0","0","694","0","0","2","0.00151286","1322","2","0","0","0","978","0","0","0","0","1006","0","0","0","0","1008","0","0"]
["7:6683454","A/G",null,"PASS","0.507353","67,69",136,99,"0/1","ZNF316","missense_variant","Missense","NM_001278559.1","NM_001278559.1:c.467A>G","NP_001265488.1:p.Glu156Gly","NM_001278559.1","7","15.4561","ZNF316","NM_001278559.1","mRNA","mRNA","+","NP_001265488.1","NP_001265488.1","100131017","13843",null,"CCDS75563.1",null,"zinc finger protein 316",null,"True","A/G","rs2253869","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","100","SNV","0.2903,0.7097","True","A/G","rs2253869",null,20253,"3554","0.709665",5008,936,1309,"433","0.623919",694,169,132,"944","0.71407",1322,264,340,"824","0.842536",978,132,346,"510","0.506958",1006,240,135,"843","0.83631",1008,131,356,"False"]
["7:12271666","G/T",null,"PASS","0.586538","43,61",104,99,"0/1","TMEM106B","3_prime_UTR_variant","Other","NM_018374.3","NM_018374.3:c.*65G>T",null,"NM_018374.3,NM_001134232.1","9,8",",","TMEM106B,TMEM106B","NM_018374.3,NM_001134232.1","mRNA,mRNA","mRNA,mRNA","+,+","NP_060844.2,NP_001127704.1","NP_060844.2,NP_001127704.1","54664,54664","22407,22407","613413,613413","CCDS5358.1,CCDS5358.1","07745,07745","transmembrane protein 106B,transmembrane protein 106B",",","True","G/T","rs1042946","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","86","SNV","0.9712,0.02875","True","G/T","rs1042946",null,8954,"144","0.028754",5008,132,6,"38","0.054755",694,36,1,"9","0.00680787",1322,9,0,"16","0.0163599",978,16,0,"81","0.0805169",1006,71,5,"0","0",1008,0,0,"True","esv3612244,esv3612245","Gain,Gain","<CN2>,<CN2>","DUP_gs,DUP_uwash","EX_TARGET,EX_TARGET","18953,16760","2,1","0.000399361,0.000199681","5008,5008","2,1","0,0","0,0","0,0","694,694","0,0","0,0","0,0","0,0","1322,1322","0,0","0,0","0,0","0,0","978,978","0,0","0,0","0,0","0,0","1006,1006","0,0","0,0","2,1","0.00198413,0.000992064","1008,1008","2,1","0,0"]
["7:20198440","G/A",null,"PASS","0.427586","83,62",145,99,"0/1","MACC1","missense_variant","Missense","NM_182762.3","NM_182762.3:c.1544C>T","NP_877439.3:p.Ser515Leu","NM_182762.3","5","60.297","MACC1","NM_182762.3","mRNA","mRNA","-","NP_877439.3","NP_877439.3","346389","30215","612646","CCDS5369.1",null,"metastasis-associated in colon cancer protein 1",null,"True","G/A","rs975263","RS orientation is reversed,Variant is Precious,Links exist to PubMed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","86","SNV","0.5745,0.4255","True","G/A","rs975263","EX_TARGET",19058,"2131","0.425519",5008,1029,551,"226","0.325648",694,158,34,"370","0.279879",1322,268,51,"499","0.510225",978,229,135,"246","0.244533",1006,208,19,"790","0.78373",1008,166,312,"False"]
["7:22459324","G/A",null,"PASS","0.496599","74,73",147,99,"0/1","STEAP1B","3_prime_UTR_variant","Other","NM_207342.2","NM_207342.2:c.*99C>T",null,"NM_207342.2","5",null,"STEAP1B","NM_207342.2","mRNA","mRNA","-","NP_997225.1","NP_997225.1","256227","41907",null,"CCDS55094.1",null,"STEAP family member 1B isoform 2",null,"True","G/A","rs2177142","RS orientation is reversed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","96","SNV","0.513,0.487","True","G/A","rs2177142",null,20094,"2439","0.487021",5008,1281,579,"277","0.399135",694,169,54,"624","0.472012",1322,344,140,"483","0.493865",978,241,121,"474","0.471173",1006,284,95,"581","0.576389",1008,243,169,"True","esv3612512,esv3612518,esv3612520","Loss,Loss,Loss","<CN0>,<CN0>,<CN0>","DEL_union,DUP_uwash,DEL_union","EX_TARGET","21234,21094,23007","1,1,2","0.000199681,0.000199681,0.000399361","5008,5008,5008","1,1,2","0,0,0","0,0,0","0,0,0","694,694,694","0,0,0","0,0,0","0,0,0","0,0,0","1322,1322,1322","0,0,0","0,0,0","0,0,0","0,0,0","978,978,978","0,0,0","0,0,0","0,0,1","0,0,0.000994036","1006,1006,1006","0,0,1","0,0,0","1,1,1","0.000992064,0.000992064,0.000992064","1008,1008,1008","1,1,1","0,0,0"]
["7:26404071","G/A",null,"PASS","0.563636","48,62",110,99,"0/1","SNX10","5_prime_UTR_variant","Other","NM_001318198.1","NM_001318198.1:c.190-84G>A",null,"NM_013322.2,NM_001318198.1,NM_001199835.1,NM_001318199.1,NM_001199837.1,NM_001199838.1","4,5,4,4,2,1",",,,,,","SNX10,SNX10,SNX10,SNX10,SNX10,SNX10","NM_013322.2,NM_001318198.1,NM_001199835.1,NM_001318199.1,NM_001199837.1,NM_001199838.1","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","+,+,+,+,+,+","NP_037454.2,NP_001305127.1,NP_001186764.1,NP_001305128.1,NP_001186766.1,NP_001186767.1","NP_037454.2,NP_001305127.1,NP_001186764.1,NP_001305128.1,NP_001186766.1,NP_001186767.1","29887,29887,29887,29887,29887,29887","14974,14974,14974,14974,14974,14974","614780,614780,614780,614780,614780,614780","CCDS5399.1,,CCDS5399.1,CCDS5399.1,,CCDS56470.1","15409,15409,15409,15409,15409,15409","sorting nexin-10 isoform 1,sorting nexin-10 isoform 4,sorting nexin-10 isoform 1,sorting nexin-10 isoform 1,sorting nexin-10 isoform 2,sorting nexin-10 isoform 3",",,,,,","True","G/A","rs2253569","Has SubmitterLinkOut,In 5' UTR,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","100","SNV","0.5521,0.4479","True","G/A","rs2253569",null,19175,"2243","0.447883",5008,1137,553,"308","0.443804",694,162,73,"333","0.251891",1322,253,40,"606","0.619632",978,202,202,"534","0.530815",1006,260,137,"462","0.458333",1008,260,101,"False"]
["7:30795288","A/G",null,"PASS","0.449367","87,71",158,99,"0/1","INMT","missense_variant","Missense","NM_006774.4","NM_006774.4:c.613A>G","NP_006765.4:p.Met205Val","NM_006774.4,NM_001199219.1","3,3","77.2727,77.1863","INMT,INMT","NM_006774.4,NM_001199219.1","mRNA,mRNA","mRNA,mRNA","+,+","NP_006765.4,NP_001186148.1","NP_006765.4,NP_001186148.1","11185,11185","6069,6069","604854,604854","CCDS5430.1,CCDS56479.1",",","indolethylamine N-methyltransferase isoform 1,indolethylamine N-methyltransferase isoform 2",",","True","A/G","rs2302339","Has 3D structure,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","100","SNV","0.7536,0.2464","True","A/G","rs2302339","EX_TARGET",20761,"1234","0.246406",5008,854,190,"170","0.244957",694,118,26,"171","0.129349",1322,149,11,"372","0.380368",978,222,75,"352","0.349901",1006,230,61,"169","0.167659",1008,135,17,"False"]
["7:38269668","G/A",null,"PASS","0.440367","61,48",109,99,"0/1","STARD3NL","3_prime_UTR_variant","Other","NM_032016.3","NM_032016.3:c.*162G>A",null,"NM_032016.3","9",null,"STARD3NL","NM_032016.3","mRNA","mRNA","+","NP_114405.1","NP_114405.1","83930","19169","611759","CCDS5455.1","18117","MLN64 N-terminal domain homolog",null,"True","G/A","rs8163","RS orientation is reversed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","52","SNV","0.8023,0.1977","True","G/A","rs8163",null,18565,"990","0.197684",5008,772,109,"111","0.159942",694,93,9,"265","0.200454",1322,211,27,"193","0.197342",978,153,20,"230","0.228628",1006,164,33,"191","0.189484",1008,151,20,"False"]
["7:42956933","G/A",null,"PASS","0.456853","107,90",197,99,"0/1","PSMA2","3_prime_UTR_variant","Other","NM_002787.4","NM_002787.4:c.*240C>T",null,"NM_002787.4","8",null,"PSMA2","NM_002787.4","mRNA","mRNA","-","NP_002778.1","NP_002778.1","5683","9531","176842","CCDS5467.1","08907","proteasome subunit alpha type-2",null,"True","G/A","rs1060304","RS orientation is reversed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","86","SNV","0.9453,0.05471","True","G/A","rs1060304",null,19455,"274","0.0547125",5008,250,12,"63","0.0907781",694,55,4,"117","0.0885023",1322,107,5,"10","0.0102249",978,10,0,"83","0.082505",1006,77,3,"1","0.000992064",1008,1,0,"False"]
["7:45124465","A/T",null,"PASS","0.441558","86,68",154,99,"0/1","NACAD","missense_variant","Missense","NM_001146334.1","NM_001146334.1:c.1314T>A","NP_001139806.1:p.Asp438Glu","NM_001146334.1","2","28.0017","NACAD","NM_001146334.1","mRNA","mRNA","-","NP_001139806.1","NP_001139806.1","23148","22196",null,"CCDS47582.1",null,"NAC-alpha domain-containing protein 1",null,"True","A/T","rs3735495","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","107","SNV","0.7222,0.2778","True","A/T","rs3735495",null,20664,"1391","0.277756",5008,973,209,"279","0.402017",694,159,60,"208","0.157337",1322,180,14,"280","0.286299",978,188,46,"336","0.333996",1006,230,53,"288","0.285714",1008,216,36,"False"]
["7:57188718","T/C",null,"PASS","0.556604","141,177",318,99,"0/1","ZNF479","missense_variant","Missense","NM_033273.2","NM_033273.2:c.404A>G","NP_150376.1:p.Tyr135Cys","NM_033273.2","5","25.5873","ZNF479","NM_033273.2","mRNA","mRNA","-","NP_150376.1","NP_150376.1","90827","23258",null,"CCDS43590.1",null,"zinc finger protein 479",null,"True","T/C","rs62464802","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","129","SNV","0.6723,0.3277","True","T/C","rs62464802","EX_TARGET",17489,"1641","0.327676",5008,955,343,"263","0.378963",694,159,52,"152","0.114977",1322,142,5,"386","0.394683",978,230,78,"293","0.291252",1006,189,52,"547","0.542659",1008,235,156,"False"]
["7:72193868","G/A",null,"PASS","0.503876","128,130",258,99,"0/1","TYW1B","missense_variant","Missense","NM_001145440.2","NM_001145440.2:c.1114C>T","NP_001138912.2:p.Arg372Trp","NM_001145440.2","10","55.4559","TYW1B","NM_001145440.2","mRNA","mRNA","-","NP_001138912.2","NP_001138912.2","441250","33908",null,"CCDS69309.1",null,"S-adenosyl-L-methionine-dependent tRNA 4-demethylwyosine synthase",null,"True","G/A","rs2960999","RS orientation is reversed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Has synonymous A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","101","SNV","0.6132,0.3868","True","G/A","rs2960999",null,19187,"1937","0.386781",5008,1107,415,"248","0.357349",694,164,42,"582","0.440242",1322,310,136,"310","0.316973",978,204,53,"236","0.234592",1006,190,23,"561","0.556548",1008,239,161,"True","esv3613667;esv3613668,esv3613667;esv3613668","Loss,Gain","<CN0>,<CN2>","DUP_gs,DUP_gs","EX_TARGET,EX_TARGET","12313,12313","1,7","0.000199681,0.00139776","5008,5008","1,5","0,1","0,1","0,0.00144092","694,694","0,1","0,0","0,0","0,0","1322,1322","0,0","0,0","1,0","0.00102249,0","978,978","1,0","0,0","0,0","0,0","1006,1006","0,0","0,0","0,6","0,0.00595238","1008,1008","0,4","0,1"]
["7:75046592","T/G",null,"PASS","0.5","69,69",138,99,"0/1","POM121C","3_prime_UTR_variant","Other","NM_001099415.2","NM_001099415.2:c.*1487A>C",null,"NM_001099415.2","15",null,"POM121C","NM_001099415.2","mRNA","mRNA","-","NP_001092885.2","NP_001092885.2","100101267","34005","615754","CCDS47617.1",null,"nuclear envelope pore membrane protein POM 121C",null,"True","T/G","rs113975841","Has SubmitterLinkOut,In 3' UTR,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,1000 Genome phase 1,1000 Genome phase 3","132","SNV","0.8425,0.1575","True","T/G","rs113975841",null,16336,"789","0.157548",5008,595,97,"71","0.102305",694,61,5,"441","0.333585",1322,295,73,"145","0.148262",978,115,15,"130","0.129225",1006,122,4,"2","0.00198413",1008,2,0,"False"]
["7:77200392","A/T",null,"PASS","0.446154","108,87",195,99,"0/1","PTPN12","splice_region_variant","Other","NM_002835.3","NM_002835.3:c.100-3A>T",null,"NM_002835.3,NM_001131009.1,NM_001131008.1","2,2,2",",,","PTPN12,PTPN12,PTPN12","NM_002835.3,NM_001131009.1,NM_001131008.1","mRNA,mRNA,mRNA","mRNA,mRNA,mRNA","+,+,+","NP_002826.3,NP_001124481.1,NP_001124480.1","NP_002826.3,NP_001124481.1,NP_001124480.1","5782,5782,5782","9645,9645,9645","600079,600079,600079","CCDS5592.1,CCDS47620.1,CCDS47619.1",",,","tyrosine-protein phosphatase non-receptor type 12 isoform 1,tyrosine-protein phosphatase non-receptor type 12 isoform 3,tyrosine-protein phosphatase non-receptor type 12 isoform 2",",,","True","A/T","rs17155183","Has SubmitterLinkOut,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","123","SNV","0.7458,0.2542","True","A/T","rs17155183","EX_TARGET",15967,"1273","0.254193",5008,955,159,"166","0.239193",694,136,15,"342","0.258699",1322,248,47,"274","0.280164",978,192,41,"311","0.309145",1006,225,43,"180","0.178571",1008,154,13,"False"]
["7:89912301","G/A",null,"PASS","0.465455","147,128",275,99,"0/1","CFAP69","missense_variant","Missense","NM_001039706.2","NM_001039706.2:c.1468G>A","NP_001034795.2:p.Val490Met","NM_001160138.1,NM_001039706.2","13,13","50.974,51.9108","CFAP69,CFAP69","NM_001160138.1,NM_001039706.2","mRNA,mRNA","mRNA,mRNA","+,+","NP_001153610.1,NP_001034795.2","NP_001153610.1,NP_001034795.2","79846,79846","26107,26107",",","CCDS55122.1,CCDS43613.2",",","cilia- and flagella-associated protein 69 isoform 2,cilia- and flagella-associated protein 69 isoform 1",",","True","G/A","rs1029365","Variant is Precious,Links exist to PubMed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","86","SNV","0.1158,0.8842","True","G/A","rs1029365","EX_TARGET",15026,"4428","0.884185",5008,492,1968,"590","0.850144",694,92,249,"1165","0.881241",1322,149,508,"877","0.896728",978,89,394,"793","0.78827",1006,157,318,"1003","0.99504",1008,5,499,"False"]
["7:93623458","A/G",null,"PASS","0.453202","111,92",203,99,"0/1","BET1","3_prime_UTR_variant","Other","NM_005868.5","NM_005868.5:c.*84T>C",null,"NM_001317739.1,NM_005868.5","4,4",",","BET1,BET1","NM_001317739.1,NM_005868.5","mRNA,mRNA","mRNA,mRNA","-,-","NP_001304668.1,NP_005859.1","NP_001304668.1,NP_005859.1","10282,10282","14562,14562","605456,605456","CCDS83203.1,CCDS5635.1","16107,16107","BET1 homolog isoform 2,BET1 homolog isoform 1",",","True","A/G","rs2286845","Has SubmitterLinkOut,In 3' UTR,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","100","SNV","0.7051,0.2949","True","A/G","rs2286845",null,18697,"1477","0.294928",5008,955,261,"186","0.268012",694,132,27,"154","0.11649",1322,130,12,"335","0.342536",978,211,62,"332","0.33002",1006,232,50,"470","0.46627",1008,250,110,"False"]
["7:99632982","T/C",null,"PASS","0.666667","2,4",6,62,"0/1","ZKSCAN1","3_prime_UTR_variant","Other","NM_003439.3","NM_003439.3:c.*1162T>C",null,"NM_001346581.1,NM_001287055.2,NM_003439.3,NM_001346580.1,NM_001287054.2,NM_001346579.1","7,4,6,7,8,5",",,,,,","ZKSCAN1,ZKSCAN1,ZKSCAN1,ZKSCAN1,ZKSCAN1,ZKSCAN1","NM_001346581.1,NM_001287055.2,NM_003439.3,NM_001346580.1,NM_001287054.2,NM_001346579.1","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","+,+,+,+,+,+","NP_001333510.1,NP_001273984.1,NP_003430.1,NP_001333509.1,NP_001273983.1,NP_001333508.1","NP_001333510.1,NP_001273984.1,NP_003430.1,NP_001333509.1,NP_001273983.1,NP_001333508.1","7586,7586,7586,7586,7586,7586","13101,13101,13101,13101,13101,13101","601260,601260,601260,601260,601260,601260",",CCDS75640.1,CCDS34698.1,,CCDS69349.1,","03161,03161,03161,03161,03161,03161","zinc finger protein with KRAB and SCAN domains 1 isoform a,zinc finger protein with KRAB and SCAN domains 1 isoform c,zinc finger protein with KRAB and SCAN domains 1 isoform a,zinc finger protein with KRAB and SCAN domains 1 isoform b,zinc finger protein with KRAB and SCAN domains 1 isoform b,zinc finger protein with KRAB and SCAN domains 1 isoform d",",,,,,","True","T/C","rs1133790","Has SubmitterLinkOut,In 3' UTR,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","86","SNV","0.6633,0.3367","True","T/C","rs1133790",null,21739,"1686","0.336661",5008,962,362,"309","0.445245",694,147,81,"185","0.139939",1322,157,14,"366","0.374233",978,210,78,"352","0.349901",1006,218,67,"474","0.470238",1008,230,122,"False"]
["7:100547173","T/C",null,"PASS","0.289796","174,71",245,99,"0/1","MUC3A","5_prime_UTR_variant","Other","NM_005960.1","NM_005960.1:c.-84T>C",null,"NM_005960.1","1",null,"MUC3A","NM_005960.1","mRNA","mRNA","+","NP_005951.1","NP_005951.1","4584","7513","158371","CCDS78262.1",null,"mucin-3A precursor",null,"True","T/C","rs75482949","In 5' UTR,Is Assembly specific,Genotypes available","131","SNV",{"$nulls":36},"False"]
["7:100549583","G/A",null,"PASS","0.432143","159,121",280,99,"0/1","MUC3A","missense_variant","Missense","NM_005960.1","NM_005960.1:c.164G>A","NP_005951.1:p.Gly55Glu","NM_005960.1","2","3.66128","MUC3A","NM_005960.1","mRNA","mRNA","+","NP_005951.1","NP_005951.1","4584","7513","158371","CCDS78262.1",null,"mucin-3A precursor",null,"True","G/A","rs73163749","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available","130","SNV",{"$nulls":36},"False"]
["7:100550510","A/T",null,"PASS","0.201835","144,44",218,99,"0/1","MUC3A","missense_variant","Missense","NM_005960.1","NM_005960.1:c.1091A>T","NP_005951.1:p.Glu364Val","NM_005960.1","2","24.4834","MUC3A","NM_005960.1","mRNA","mRNA","+","NP_005951.1","NP_005951.1","4584","7513","158371","CCDS78262.1",null,"mucin-3A precursor",null,"True","A/C/T","rs796842434","Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific","146","SNV",{"$nulls":36},"False"]
["7:100552384","A/G",null,"PASS","0.404092","233,158",391,99,"0/1","MUC3A","missense_variant","Missense","NM_005960.1","NM_005960.1:c.2956A>G","NP_005951.1:p.Thr986Ala","NM_005960.1","5","66.3747","MUC3A","NM_005960.1","mRNA","mRNA","+","NP_005951.1","NP_005951.1","4584","7513","158371","CCDS78262.1",null,"mucin-3A precursor",null,"True","A/G","rs75597914","Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available","131","SNV",{"$nulls":36},"False"]
["7:101989035","G/A",null,"MQ40,QD2","0.164589","670,132",802,99,"0/1","SPDYE6","missense_variant","Missense","NM_001146210.2","NM_001146210.2:c.838C>T","NP_001139682.2:p.Arg280Cys","NM_001146210.2","6","69.2308","SPDYE6","NM_001146210.2","mRNA","mRNA","-","NP_001139682.2","NP_001139682.2","729597","35465",null,"CCDS78265.1",null,"putative speedy protein E6",null,"True","G/A","rs371255090","Has non-synonymous missense A coding region,Has reference A coding region,In Intron,Is Assembly specific,Is Validated","138","SNV",{"$nulls":36},"True","esv3614348","Gain","<CN2>","DUP_gs","EX_TARGET","17792","2","0.000399361","5008","2","0","0","0","694","0","0","2","0.00151286","1322","2","0","0","0","978","0","0","0","0","1006","0","0","0","0","1008","0","0"]
["7:102277852","T/-",null,"MQ40","0.375","5,3",8,71,"0/1","POLR2J2,UPK3BL","3_prime_UTR_variant","Other","NM_032959.5,NM_001114403.2","NM_032959.5:c.*854delA,NM_001114403.2:c.*120delA",",","NM_032959.5,NM_001114403.2","9,6",",","POLR2J2,UPK3BL","NM_032959.5,NM_001114403.2","mRNA,mRNA","mRNA,mRNA","-,-","NP_116581.3,NP_001107875.1","NP_116581.3,NP_001107875.1","246721,100134938","23208,37278","609881,","CCDS43627.1,CCDS47675.1","17878,","DNA-directed RNA polymerase II subunit RPB11-b1,uroplakin-3b-like protein precursor",",","True","T/-","rs774184484","In 3' UTR,Is Assembly specific","144","DIV",{"$nulls":36},"False"]
["7:106299404","A/G",null,"PASS","0.594595","30,44",74,99,"0/1","CCDC71L","3_prime_UTR_variant","Other","NM_175884.5","NM_175884.5:c.*1231T>C",null,"NM_175884.5","1",null,"CCDC71L","NM_175884.5","mRNA","mRNA","-","NP_787080.2","NP_787080.2","168455","26685",null,"CCDS55151.1",null,"coiled-coil domain-containing protein 71L",null,"True","A/G","rs2190093","Variant is Precious,Links exist to PubMed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3,Microattribution/third-party annotation(TPA:GWAS,PAGE)","96","SNV","0.7594,0.2406","True","A/G","rs2190093",null,2325,"1205","0.240615",5008,755,225,"139","0.200288",694,117,11,"61","0.0461422",1322,51,5,"350","0.357873",978,216,67,"137","0.136183",1006,125,6,"518","0.513889",1008,246,136,"False"]
["7:116437606","G/A",null,"PASS","0.434783","104,80",184,99,"0/1","MET","3_prime_UTR_variant","Other","NM_001127500.2","NM_001127500.2:c.*1428G>A",null,"NM_001324402.1,NM_000245.3,NM_001127500.2","20,21,21",",,","MET,MET,MET","NM_001324402.1,NM_000245.3,NM_001127500.2","mRNA,mRNA,mRNA","mRNA,mRNA,mRNA","+,+,+","NP_001311331.1,NP_000236.2,NP_001120972.1","NP_001311331.1,NP_000236.2,NP_001120972.1","4233,4233,4233","7029,7029,7029","164860,164860,164860",",CCDS43636.1,CCDS47689.1",",,","hepatocyte growth factor receptor isoform d,hepatocyte growth factor receptor isoform b preproprotein,hepatocyte growth factor receptor isoform a preproprotein",",,","True","G/A","rs1621","Variant is Precious,Links exist to PubMed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","36","SNV","0.2935,0.7065","True","G/A","rs1621",null,17114,"3538","0.70647",5008,908,1315,"487","0.701729",694,141,173,"667","0.504539",1322,319,174,"833","0.851738",978,127,353,"685","0.680915",1006,205,240,"866","0.859127",1008,116,375,"False",{"$nulls":36},"G/A","358717","Benign","Benign","Benign (1)","(1 Stars) Criteria Provided, Single Submitter","rs1621","MET","4233","NC_000007.13:g.116437606G>A","NC_000007.14:g.116797552G>A","NM_001127500.2:c.*1428G>A",null,"RCV000300643","Renal cell carcinoma, papillary, 1","Benign","(1 Stars) Criteria Provided, Single Submitter","2016-06-14"]
["7:127881349","G/A",null,"PASS","0.39645","102,67",169,99,"0/1","LEP","5_prime_UTR_variant","Other","NM_000230.2","NM_000230.2:c.-39G>A",null,"NM_000230.2","1",null,"LEP","NM_000230.2","mRNA","mRNA","+","NP_000221.1","NP_000221.1","3952","6553","164160","CCDS5800.1","01249","leptin precursor",null,"True","G/A","rs2167270","Variant is Precious,Links exist to PubMed,Has SubmitterLinkOut,In 5' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","96","SNV","0.6591,0.3409","True","G/A","rs2167270",null,14618,"1707","0.340855",5008,1097,305,"282","0.40634",694,154,64,"585","0.442511",1322,341,122,"269","0.275051",978,209,30,"372","0.369781",1006,244,64,"199","0.197421",1008,149,25,"False",{"$nulls":36},"G/A","358814","Likely Benign","Likely Benign","Likely benign (2)","(1 Stars) Criteria Provided, Single Submitter","rs2167270","LEP,LOC106728418","3952,106728418","NC_000007.13:g.127881349G>A","NC_000007.14:g.128241296G>A","NM_000230.2:c.-39G>A",null,"RCV000329981,RCV000375354","Leptin deficiency or dysfunction,Monogenic Non-Syndromic Obesity","Likely Benign,Likely Benign","(1 Stars) Criteria Provided, Single Submitter,(1 Stars) Criteria Provided, Single Submitter","2016-06-14,2016-06-14"]
["7:128409225","A/G",null,"PASS","0.468531","76,67",143,99,"0/1","CALU","3_prime_UTR_variant","Other","NM_001199671.1","NM_001199671.1:c.*4A>G",null,"NM_001199672.1,NM_001199671.1,NM_001219.4,NM_001199673.1,NM_001130674.2","8,8,7,6,7",",,,,","CALU,CALU,CALU,CALU,CALU","NM_001199672.1,NM_001199671.1,NM_001219.4,NM_001199673.1,NM_001130674.2","mRNA,mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA,mRNA","+,+,+,+,+","NP_001186601.1,NP_001186600.1,NP_001210.1,NP_001186602.1,NP_001124146.1","NP_001186601.1,NP_001186600.1,NP_001210.1,NP_001186602.1,NP_001124146.1","813,813,813,813,813","1458,1458,1458,1458,1458","603420,603420,603420,603420,603420","CCDS56507.1,CCDS56506.1,CCDS5805.1,CCDS56508.1,CCDS47703.1","04569,04569,04569,04569,04569","calumenin isoform d precursor,calumenin isoform c precursor,calumenin isoform a precursor,calumenin isoform e precursor,calumenin isoform b precursor",",,,,","True","A/G","rs1043550","Variant is Precious,Links exist to PubMed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","86","SNV","0.8091,0.1909","True","A/G","rs1043550","EX_TARGET",18017,"956","0.190895",5008,680,138,"165","0.237752",694,113,26,"150","0.113464",1322,134,8,"153","0.156442",978,133,10,"420","0.417495",1006,236,92,"68","0.0674603",1008,64,2,"False"]
["7:131185995","C/A",null,"PASS","0.470588","108,96",204,99,"0/1","PODXL","3_prime_UTR_variant","Other","NM_001018111.2","NM_001018111.2:c.*3075G>T",null,"NM_001018111.2,NM_005397.3","9,8",",","PODXL,PODXL","NM_001018111.2,NM_005397.3","mRNA,mRNA","mRNA,mRNA","-,-","NP_001018121.1,NP_005388.2","NP_001018121.1,NP_005388.2","5420,5420","9171,9171","602632,602632","CCDS34755.1,CCDS47714.1",",","podocalyxin isoform 1 precursor,podocalyxin isoform 2 precursor",",","True","C/A","rs1733860","RS orientation is reversed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","89","SNV","0.6346,0.3654","True","C/A","rs1733860",null,18010,"1830","0.365415",5008,1128,351,"249","0.35879",694,157,46,"434","0.32829",1322,294,70,"292","0.298569",978,210,41,"342","0.33996",1006,224,59,"513","0.508929",1008,243,135,"False"]
["7:139257533","T/-",null,"MQ40,SOR3","0.5","12,12",24,99,"0/1","HIPK2","3_prime_UTR_variant","Other","NM_022740.4","NM_022740.4:c.*140delA",null,"NM_001113239.2,NM_022740.4","15,15",",","HIPK2,HIPK2","NM_001113239.2,NM_022740.4","mRNA,mRNA","mRNA,mRNA","-,-","NP_001106710.1,NP_073577.3","NP_001106710.1,NP_073577.3","28996,28996","14402,14402","606868,606868","CCDS75666.1,CCDS75667.1",",","homeodomain-interacting protein kinase 2 isoform 2,homeodomain-interacting protein kinase 2 isoform 1",",","False",{"$nulls":41},"False"]
["7:142460369","G/A",null,"PASS","0.420588","197,143",340,99,"0/1","PRSS1","missense_variant","Missense","NM_002769.4","NM_002769.4:c.542G>A","NP_002760.1:p.Ser181Asn","NM_002769.4","4","72.7151","PRSS1","NM_002769.4","mRNA","mRNA","+","NP_002760.1","NP_002760.1","5644","9475","276000","CCDS5872.1",null,"trypsin-1 preproprotein",null,"True","G/A","rs201719096","Has 3D structure,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations","137","SNV",{"$nulls":36},"True","esv3615288","Loss","<CN0>","DEL_union","EX_TARGET","19781","11","0.00219649","5008","11","0","1","0.00144092","694","1","0","2","0.00151286","1322","2","0","0","0","978","0","0","6","0.00596421","1006","6","0","2","0.00198413","1008","2","0","G/A","518382","Benign","Benign","Benign (1)","(0 Stars) No Assertion Criteria Provided","rs201719096","PRSS1,TRB","5644,6957","NC_000007.13:g.142460369G>A","NC_000007.14:g.142752518G>A","NM_002769.4:c.542G>A","NP_002760.1:p.Ser181Asn","RCV000601108","Hereditary pancreatitis","Benign","(0 Stars) No Assertion Criteria Provided"]
["7:142460744","G/C",null,"MQRankSum-12.5","0.153846","253,46",301,99,"0/1","PRSS1","missense_variant","Missense","NM_002769.4","NM_002769.4:c.617G>C","NP_002760.1:p.Cys206Ser","NM_002769.4","5","82.7957","PRSS1","NM_002769.4","mRNA","mRNA","+","NP_002760.1","NP_002760.1","5644","9475","276000","CCDS5872.1",null,"trypsin-1 preproprotein",null,"True","G/C","rs150930992","Has 3D structure,Has non-synonymous missense A coding region,Has reference A coding region,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),1000 Genome phase 1","137","SNV",{"$nulls":36},"True","esv3615288","Loss","<CN0>","DEL_union","EX_TARGET","19781","11","0.00219649","5008","11","0","1","0.00144092","694","1","0","2","0.00151286","1322","2","0","0","0","978","0","0","6","0.00596421","1006","6","0","2","0.00198413","1008","2","0"]
["7:149461487","T/G",null,"PASS","0.472826","97,87",184,99,"0/1","ZNF467","3_prime_UTR_variant","Other","NM_207336.2","NM_207336.2:c.*316A>C",null,"NM_207336.2,NM_001329856.1","5,5",",","ZNF467,ZNF467","NM_207336.2,NM_001329856.1","mRNA,mRNA","mRNA,mRNA","-,-","NP_997219.1,NP_001316785.1","NP_997219.1,NP_001316785.1","168544,168544","23154,23154","614040,614040","CCDS5899.1,",",","zinc finger protein 467 isoform 1,zinc finger protein 467 isoform 2",",","True","T/G","rs73168053","Has SubmitterLinkOut,In 3' UTR,In 3' gene region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),1000 Genome phase 1,1000 Genome phase 3","130","SNV","0.9271,0.07288","True","T/G","rs73168053",null,15968,"365","0.0728834",5008,309,28,"20","0.0288184",694,18,1,"95","0.0718608",1322,85,5,"140","0.143149",978,106,17,"52","0.0516899",1006,48,2,"58","0.0575397",1008,52,3,"False"]
["7:150501516","A/G",null,"PASS","0.391304","98,63",161,99,"0/1","TMEM176A","missense_variant","Missense","NM_018487.2","NM_018487.2:c.622A>G","NP_060957.2:p.Thr208Ala","NM_018487.2","6","87.7119","TMEM176A","NM_018487.2","mRNA","mRNA","+","NP_060957.2","NP_060957.2","55365","24930","610334","CCDS5909.1","13635","transmembrane protein 176A",null,"True","A/G","rs9088","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","52","SNV","0.2574,0.7426","True","A/G","rs9088","EX_TARGET",21297,"3719","0.742612",5008,907,1406,"447","0.644092",694,149,149,"1049","0.793495",1322,215,417,"773","0.790389",978,143,315,"684","0.67992",1006,222,231,"766","0.759921",1008,178,294,"False"]
["7:152345436","G/A",null,"PASS","0.4","9,6",15,99,"0/1","XRCC2","3_prime_UTR_variant","Other","NM_005431.1","NM_005431.1:c.*291C>T",null,"NM_005431.1","3",null,"XRCC2","NM_005431.1","mRNA","mRNA","-","NP_005422.1","NP_005422.1","7516","12829","600375","CCDS5933.1","02656","DNA repair protein XRCC2",null,"True","G/A","rs3218542","RS orientation is reversed,In 3' UTR,Is Assembly specific,Is Validated,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","106","SNV","0.9982,0.001797","True","G/A","rs3218542",null,15183,"9","0.00179712",5008,9,0,"3","0.00432277",694,3,0,"4","0.00302572",1322,4,0,"0","0",978,0,0,"2","0.00198807",1006,2,0,"0","0",1008,0,0,"False"]
["7:157151234","C/T",null,"PASS","0.543956","83,99",182,99,"0/1","DNAJB6","splice_region_variant","Other","NM_058246.3","NM_058246.3:c.-26-7C>T",null,"NM_005494.2,NM_058246.3","2,2",",","DNAJB6,DNAJB6","NM_005494.2,NM_058246.3","mRNA,mRNA","mRNA,mRNA","+,+","NP_005485.1,NP_490647.1","NP_005485.1,NP_490647.1","10049,10049","14888,14888","611332,611332","CCDS47755.1,CCDS5946.1",",","dnaJ homolog subfamily B member 6 isoform b,dnaJ homolog subfamily B member 6 isoform a",",","True","C/T","rs3802100","RS orientation is reversed,Has SubmitterLinkOut,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","107","SNV","0.4309,0.5691","True","C/T","rs3802100",null,21287,"2850","0.569089",5008,1148,851,"419","0.603746",694,159,130,"556","0.420575",1322,318,119,"545","0.55726",978,227,159,"578","0.574553",1006,256,161,"752","0.746032",1008,188,282,"True","esv3615688,esv3615695","Gain,Gain","<CN2>,<CN2>","DUP_delly,DUP_gs","IMPRECISE,EX_TARGET,EX_TARGET","16363,13675","1,1","0.000199681,0.000199681","5008,5008","1,1","0,0","0,0","0,0","694,694","0,0","0,0","1,1","0.00075643,0.00075643","1322,1322","1,1","0,0","0,0","0,0","978,978","0,0","0,0","0,0","0,0","1006,1006","0,0","0,0","0,0","0,0","1008,1008","0,0","0,0","C/T","262304","Benign","Benign","Benign (4)","(2 Stars) Criteria Provided, Multiple Submitters, No Conflicts","rs3802100","DNAJB6","10049","NC_000007.13:g.157151234C>T","NC_000007.14:g.157358540C>T","NM_058246.3:c.-26-7C>T",null,"RCV000245218,RCV000272144,RCV000385262","not specified,Limb-Girdle Muscular Dystrophy, Dominant,Myofibrillar Myopathy, Dominant","Benign,Benign,Benign","(2 Stars) Criteria Provided, Multiple Submitters, No Conflicts,(1 Stars) Criteria Provided, Single Submitter,(1 Stars) Criteria Provided, Single Submitter","2016-01-19,2016-06-14,2016-06-14"]
["8:92971670","G/A",null,"QD2","0.105263","34,4",38,4,"0/1","RUNX1T1","3_prime_UTR_variant","Other","NM_001198679.1","NM_001198679.1:c.*800C>T",null,"NM_175636.2,NM_004349.3,NM_001198632.1,NM_175635.2,NM_001198629.1,NM_001198630.1,NM_001198626.1,NM_001198679.1,NM_001198625.1,NM_001198627.1,NM_001198634.1,NM_001198631.1,NM_001198628.1,NM_175634.2,NM_001198633.1","10,11,12,11,12,13,13,12,15,14,11,12,12,12,11",",,,,,,,,,,,,,,","RUNX1T1,RUNX1T1,RUNX1T1,RUNX1T1,RUNX1T1,RUNX1T1,RUNX1T1,RUNX1T1,RUNX1T1,RUNX1T1,RUNX1T1,RUNX1T1,RUNX1T1,RUNX1T1,RUNX1T1","NM_175636.2,NM_004349.3,NM_001198632.1,NM_175635.2,NM_001198629.1,NM_001198630.1,NM_001198626.1,NM_001198679.1,NM_001198625.1,NM_001198627.1,NM_001198634.1,NM_001198631.1,NM_001198628.1,NM_175634.2,NM_001198633.1","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","-,-,-,-,-,-,-,-,-,-,-,-,-,-,-","NP_783554.1,NP_004340.1,NP_001185561.1,NP_783553.1,NP_001185558.1,NP_001185559.1,NP_001185555.1,NP_001185608.1,NP_001185554.1,NP_001185556.1,NP_001185563.1,NP_001185560.1,NP_001185557.1,NP_783552.1,NP_001185562.1","NP_783554.1,NP_004340.1,NP_001185561.1,NP_783553.1,NP_001185558.1,NP_001185559.1,NP_001185555.1,NP_001185608.1,NP_001185554.1,NP_001185556.1,NP_001185563.1,NP_001185560.1,NP_001185557.1,NP_783552.1,NP_001185562.1","862,862,862,862,862,862,862,862,862,862,862,862,862,862,862","1535,1535,1535,1535,1535,1535,1535,1535,1535,1535,1535,1535,1535,1535,1535","133435,133435,133435,133435,133435,133435,133435,133435,133435,133435,133435,133435,133435,133435,133435","CCDS6257.1,CCDS47891.1,CCDS47891.1,CCDS6257.1,CCDS6256.1,CCDS6256.1,CCDS6256.1,CCDS75766.1,CCDS47891.1,CCDS6256.1,CCDS56544.1,CCDS6256.1,CCDS6256.1,CCDS6256.1,CCDS75767.1","00590,00590,00590,00590,00590,00590,00590,00590,00590,00590,00590,00590,00590,00590,00590","protein CBFA2T1 isoform C,protein CBFA2T1 isoform A,protein CBFA2T1 isoform A,protein CBFA2T1 isoform C,protein CBFA2T1 isoform B,protein CBFA2T1 isoform B,protein CBFA2T1 isoform B,protein CBFA2T1 isoform F,protein CBFA2T1 isoform A,protein CBFA2T1 isoform B,protein CBFA2T1 isoform E,protein CBFA2T1 isoform B,protein CBFA2T1 isoform B,protein CBFA2T1 isoform B,protein CBFA2T1 isoform D",",,,,,,,,,,,,,,","True","G/A","rs78145244","In 3' UTR,Is Assembly specific,Genotypes available","131","SNV",{"$nulls":36},"False"]
["8:101721727","G/A",null,"QD2","0.0985222","183,20",203,60,"0/1","PABPC1","missense_variant","Missense","NM_002568.3","NM_002568.3:c.1205C>T","NP_002559.2:p.Pro402Leu","NM_002568.3","8","63.0037","PABPC1","NM_002568.3","mRNA","mRNA","-","NP_002559.2","NP_002559.2","26986","8554","604679","CCDS6289.1",null,"polyadenylate-binding protein 1",null,"True","G/A/T","rs139094790","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+)","137","SNV",{"$nulls":36},"False"]
["9:33385358","C/G",null,"PASS","0.26875","117,43",160,99,"0/1","AQP7","3_prime_UTR_variant","Other","NM_001170.2","NM_001170.2:c.744-70G>C",null,"NM_001318158.1,NM_001170.2,NM_001318157.1,NM_001318156.1","7,8,7,7",",,,","AQP7,AQP7,AQP7,AQP7","NM_001318158.1,NM_001170.2,NM_001318157.1,NM_001318156.1","mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA","-,-,-,-","NP_001305087.1,NP_001161.1,NP_001305086.1,NP_001305085.1","NP_001305087.1,NP_001161.1,NP_001305086.1,NP_001305085.1","364,364,364,364","640,640,640,640","602974,602974,602974,602974","CCDS83356.1,CCDS6541.1,CCDS83354.1,CCDS83353.1","04277,04277,04277,04277","aquaporin-7 isoform 4,aquaporin-7 isoform 1,aquaporin-7 isoform 3,aquaporin-7 isoform 2",",,,","True","C/G","rs117805411","In 3' UTR,In Intron,Is Assembly specific","134","SNV",{"$nulls":36},"False"]
["9:33395321","G/C",null,"QD2,SOR3","0.1","72,8",80,99,"0/1","AQP7","5_prime_UTR_variant","Other","NM_001170.2","NM_001170.2:c.27-128C>G",null,"NM_001318158.1,NM_001170.2,NM_001318157.1,NM_001318156.1","3,3,3,2",",,,","AQP7,AQP7,AQP7,AQP7","NM_001318158.1,NM_001170.2,NM_001318157.1,NM_001318156.1","mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA","-,-,-,-","NP_001305087.1,NP_001161.1,NP_001305086.1,NP_001305085.1","NP_001305087.1,NP_001161.1,NP_001305086.1,NP_001305085.1","364,364,364,364","640,640,640,640","602974,602974,602974,602974","CCDS83356.1,CCDS6541.1,CCDS83354.1,CCDS83353.1","04277,04277,04277,04277","aquaporin-7 isoform 4,aquaporin-7 isoform 1,aquaporin-7 isoform 3,aquaporin-7 isoform 2",",,,","True","G/A/C","rs74914808","In 5' UTR,In Intron,Is Assembly specific,Marker on high density genotype kit (50K+)","131","SNV",{"$nulls":36},"False"]
["9:33799026","C/G",null,"MQRankSum-12.5","0.22449","114,33",147,99,"0/1","PRSS3","missense_variant","Missense","NM_007343.3","NM_007343.3:c.763C>G","NP_031369.2:p.Arg255Gly","NM_001197097.2,NM_007343.3,NM_001197098.1,NM_002771.3","6,5,5,5","80.5343,83.2787,78.8382,79.4355","PRSS3,PRSS3,PRSS3,PRSS3","NM_001197097.2,NM_007343.3,NM_001197098.1,NM_002771.3","mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA","+,+,+,+","NP_001184026.2,NP_031369.2,NP_001184027.1,NP_002762.2","NP_001184026.2,NP_031369.2,NP_001184027.1,NP_002762.2","5646,5646,5646,5646","9486,9486,9486,9486","613578,613578,613578,613578","CCDS56571.1,CCDS47958.1,CCDS56570.1,CCDS6545.1",",,,","trypsin-3 isoform 3 preproprotein,trypsin-3 isoform 1 preproprotein,trypsin-3 isoform 4 preproprotein,trypsin-3 isoform 2 preproprotein",",,,","True","C/G/T","rs148495550","Has 3D structure,Has non-synonymous missense A coding region,Has reference A coding region,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,1000 Genome phase 3","134","SNV","0.9998,,0.0001997","False",{"$nulls":34},"False"]
["9:35958047","T/C",null,"PASS","0.333333","58,29",87,99,"0/1","OR2S2","missense_variant","Missense","NM_019897.2","NM_019897.2:c.49A>G","NP_063950.2:p.Arg17Gly","NM_019897.2","1","5","OR2S2","NM_019897.2","mRNA","mRNA","-","NP_063950.2","NP_063950.2","56656","8276",null,"CCDS6596.2",null,"olfactory receptor 2S2",null,"True","T/C","rs2233558","RS orientation is reversed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","98","SNV","0.6548,0.3452","True","T/C","rs2233558","EX_TARGET",21441,"1729","0.345248",5008,1111,309,"206","0.29683",694,138,34,"653","0.493949",1322,343,155,"287","0.293456",978,195,46,"281","0.279324",1006,203,39,"302","0.299603",1008,232,35,"False"]
["9:36109947","C/A",null,"PASS","0.319149","96,45",141,99,"0/1","RECK","splice_region_variant","Other","NM_021111.2","NM_021111.2:c.1766-7C>A",null,"NM_001316345.1,NM_021111.2","17,15",",","RECK,RECK","NM_001316345.1,NM_021111.2","mRNA,mRNA","mRNA,mRNA","+,+","NP_001303274.1,NP_066934.1","NP_001303274.1,NP_066934.1","8434,8434","11345,11345","605227,605227",",CCDS6597.1","05567,05567","reversion-inducing cysteine-rich protein with Kazal motifs isoform 2,reversion-inducing cysteine-rich protein with Kazal motifs isoform 1 precursor",",","True","C/A","rs10972726","Has SubmitterLinkOut,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","120","SNV","0.7542,0.2458","True","C/A","rs10972726","EX_TARGET",21814,"1231","0.245807",5008,831,200,"165","0.237752",694,121,22,"62","0.0468986",1322,52,5,"331","0.338446",978,215,58,"365","0.362823",1006,241,62,"308","0.305556",1008,202,53,"False"]
["9:70176294","A/G",null,"MQ40","0.166667","10,2",12,17,"0/1","FOXD4L5","3_prime_UTR_variant","Other","NM_001126334.1","NM_001126334.1:c.*439T>C",null,"NM_001126334.1","1",null,"FOXD4L5","NM_001126334.1","mRNA","mRNA","-","NP_001119806.1","NP_001119806.1","653427","18522",null,"CCDS47977.1",null,"forkhead box protein D4-like 5",null,"False",{"$nulls":41},"False"]
["9:74305020","C/T",null,"PASS","0.26875","117,43",160,99,"0/1","TMEM2","missense_variant","Missense","NM_013390.2","NM_013390.2:c.3839G>A","NP_037522.1:p.Gly1280Asp","NM_013390.2,NM_001135820.1","22,21","92.4374,92.0767","TMEM2,TMEM2","NM_013390.2,NM_001135820.1","mRNA,mRNA","mRNA,mRNA","-,-","NP_037522.1,NP_001129292.1","NP_037522.1,NP_001129292.1","23670,23670","11869,11869","605835,605835","CCDS6638.1,CCDS47979.1","09317,09317","transmembrane protein 2 isoform a,transmembrane protein 2 isoform b",",","True","C/T","rs17475375","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","123","SNV","0.988,0.01198","True","C/T","rs17475375","EX_TARGET",20649,"60","0.0119808",5008,58,1,"15","0.0216138",694,15,0,"0","0",1322,0,0,"8","0.00817996",978,8,0,"37","0.0367793",1006,35,1,"0","0",1008,0,0,"False"]
["9:79318677","T/C",null,"PASS","0.214765","117,32",149,99,"0/1","PRUNE2","missense_variant","Missense","NM_015225.2","NM_015225.2:c.7852A>G","NP_056040.2:p.Ser2618Gly","NM_015225.2,NM_001308047.1,NM_001308048.1","9,9,9","84.72,85.4391,85.4112","PRUNE2,PRUNE2,PRUNE2","NM_015225.2,NM_001308047.1,NM_001308048.1","mRNA,mRNA,mRNA","mRNA,mRNA,mRNA","-,-,-","NP_056040.2,NP_001294976.1,NP_001294977.1","NP_056040.2,NP_001294976.1,NP_001294977.1","158471,158471,158471","25209,25209,25209","610691,610691,610691","CCDS47982.1,CCDS78407.1,",",,","protein prune homolog 2 isoform 1,protein prune homolog 2 isoform 2,protein prune homolog 2 isoform 3",",,","True","T/C","rs561970","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","83","SNV","0.2155,0.7845","True","T/C","rs561970","EX_TARGET",19900,"3929","0.784545",5008,799,1565,"571","0.822767",694,105,233,"914","0.691377",1322,280,317,"748","0.764826",978,166,291,"776","0.771372",1006,174,301,"920","0.912698",1008,74,423,"False"]
["9:86571611","A/G",null,"PASS","0.655172","10,19",29,99,"0/1","C9orf64","5_prime_UTR_variant","Other","NM_032307.4","NM_032307.4:c.-196T>C",null,"NM_032307.4,NM_001317997.1","1,1",",","C9orf64,C9orf64","NM_032307.4,NM_001317997.1","mRNA,mRNA","mRNA,mRNA","-,-","NP_115683.3,NP_001304926.1","NP_115683.3,NP_001304926.1","84267,84267","28144,28144","611342,611342","CCDS6666.2,CCDS83381.1",",","UPF0553 protein C9orf64 isoform 1,UPF0553 protein C9orf64 isoform 2",",","True","A/G","rs1572030","Has SubmitterLinkOut,In 5' UTR,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","88","SNV","0.4489,0.5511","True","A/G","rs1572030",null,15113,"2760","0.551118",5008,1114,823,"271","0.39049",694,157,57,"991","0.749622",1322,221,385,"521","0.53272",978,245,138,"562","0.558648",1006,234,164,"415","0.411706",1008,257,79,"False"]
["9:94486321","C/T",null,"PASS","0.641975","29,52",81,99,"0/1","ROR2","missense_variant","Missense","NM_004560.3","NM_004560.3:c.2455G>A","NP_004551.2:p.Val819Ile","NM_004560.3","9","86.6525","ROR2","NM_004560.3","mRNA","mRNA","-","NP_004551.2","NP_004551.2","4920","10257","602337","CCDS6691.1","03822","tyrosine-protein kinase transmembrane receptor ROR2 isoform 1 precursor",null,"True","C/T","rs10761129","Variant is Precious,Links exist to PubMed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3,Submitted from a locus-specific database","120","SNV","0.252,0.748","True","C/T","rs10761129","EX_TARGET",14910,"3746","0.748003",5008,892,1427,"536","0.772334",694,118,209,"1028","0.77761",1322,240,394,"569","0.5818",978,227,171,"692","0.687873",1006,232,230,"921","0.91369",1008,75,423,"False",{"$nulls":36},"C/T","159818","Benign","Benign","Benign (5)","(2 Stars) Criteria Provided, Multiple Submitters, No Conflicts","rs10761129","ROR2","4920","NC_000009.11:g.94486321C>T","NC_000009.12:g.91724039C>T","NM_004560.3:c.2455G>A","NP_004551.2:p.Val819Ile","RCV000147389,RCV000344414,RCV000382446","not specified,Brachydactyly,Robinow syndrome","Benign,Benign,Benign","(2 Stars) Criteria Provided, Multiple Submitters, No Conflicts,(1 Stars) Criteria Provided, Single Submitter,(1 Stars) Criteria Provided, Single Submitter","2016-04-13,2016-06-14,2016-06-14"]
["9:97088075","G/C",null,"PASS","0.315789","130,60",190,99,"0/1","NUTM2F","missense_variant","Missense","NM_017561.1","NM_017561.1:c.158C>G","NP_060031.1:p.Pro53Arg","NM_017561.1","2","6.91325","NUTM2F","NM_017561.1","mRNA","mRNA","-","NP_060031.1","NP_060031.1","54754","23450",null,"CCDS47994.1",null,"NUT family member 2F",null,"True","G/C","rs767682956","Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated","144","SNV",{"$nulls":36},"True","esv3621113,esv3621117;esv3621118,esv3621117;esv3621118,esv3621119","Gain,Gain,Gain,Gain","<CN2>,<CN2>,<CN3>,<CN2>","DUP_delly,DUP_uwash,DUP_uwash,DUP_gs","IMPRECISE,EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET","20882,19925,19925,15563","1,5007,1,1","0.000199681,0.9998,0.000199681,0.000199681","5008,5008,5008,5008","1,1,1,1","0,2503,0,0","0,694,0,0","0,1,0,0","694,694,694,694","0,0,0,0","0,347,0,0","0,1322,0,0","0,1,0,0","1322,1322,1322,1322","0,0,0,0","0,661,0,0","0,977,1,1","0,0.998977,0.00102249,0.00102249","978,978,978,978","0,1,1,1","0,488,0,0","1,1006,0,0","0.000994036,1,0,0","1006,1006,1006,1006","1,0,0,0","0,503,0,0","0,1008,0,0","0,1,0,0","1008,1008,1008,1008","0,0,0,0","0,504,0,0"]
["9:100995721","A/G",null,"PASS","0.74","26,74",100,99,"0/1","TBC1D2","missense_variant","Missense","NM_001267571.1","NM_001267571.1:c.758T>C","NP_001254500.1:p.Leu253Ser","NM_001267571.1,NM_018421.3","4,4","27.1618,27.4873","TBC1D2,TBC1D2","NM_001267571.1,NM_018421.3","mRNA,mRNA","mRNA,mRNA","-,-","NP_001254500.1,NP_060891.3","NP_001254500.1,NP_060891.3","55357,55357","18026,18026","609871,609871","CCDS75865.1,CCDS35080.1",",","TBC1 domain family member 2A isoform 1,TBC1 domain family member 2A isoform 2",",","True","A/C/G/T","rs879369","RS orientation is reversed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","86","SNV","0.5877,,0.4123,","True","A/G","rs879369","EX_TARGET",19660,"2065","0.41234",5008,903,581,"234","0.337176",694,146,44,"1059","0.801059",1322,209,425,"254","0.259714",978,184,35,"341","0.338966",1006,219,61,"177","0.175595",1008,145,16,"True","esv3621201","Gain","<CN2>","DUP_delly","IMPRECISE,EX_TARGET","17610","1","0.000199681","5008","1","0","0","0","694","0","0","0","0","1322","0","0","0","0","978","0","0","1","0.000994036","1006","1","0","0","0","1008","0","0"]
["9:112899361","A/C",null,"PASS","0.720721","31,80",111,99,"0/1","AKAP2,PALM2-AKAP2","missense_variant","Missense","NM_001198656.1,NM_007203.4","NM_001198656.1:c.1111A>C,NM_007203.4:c.1537A>C","NP_001185585.1:p.Lys371Gln,NP_009134.1:p.Lys513Gln","NM_147150.2,NM_007203.4,NM_001004065.4,NM_001198656.1,NM_001136562.2","8,8,2,2,2","46.9294,46.3768,38.9884,38.4615,32.6744","PALM2-AKAP2,PALM2-AKAP2,AKAP2,AKAP2,AKAP2","NM_147150.2,NM_007203.4,NM_001004065.4,NM_001198656.1,NM_001136562.2","mRNA,mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA,mRNA","+,+,+,+,+","NP_671492.1,NP_009134.1,NP_001004065.2,NP_001185585.1,NP_001130034.1","NP_671492.1,NP_009134.1,NP_001004065.2,NP_001185585.1,NP_001130034.1","445815,445815,11217,11217,11217","33529,33529,372,372,372",",,604582,604582,604582","CCDS35101.1,CCDS35100.1,CCDS43861.1,CCDS56581.1,CCDS48003.1","18661,18661,,,","PALM2-AKAP2 protein isoform 2,PALM2-AKAP2 protein isoform 1,A-kinase anchor protein 2 isoform 1,A-kinase anchor protein 2 isoform 3,A-kinase anchor protein 2 isoform 2",",,,,","True","A/C","rs4978872","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","111","SNV","0.06689,0.9331","True","A/C","rs4978872","EX_TARGET",18184,"4673","0.933107",5008,275,2199,"617","0.889049",694,71,273,"1313","0.993192",1322,9,652,"918","0.93865",978,56,431,"819","0.814115",1006,137,341,"1006","0.998016",1008,2,502,"True","esv3621449,esv3621453","Gain,Gain","<CN2>,<CN2>","DUP_delly,DUP_uwash","IMPRECISE,EX_TARGET,EX_TARGET","13869,21582","4,1","0.000798722,0.000199681","5008,5008","4,1","0,0","0,0","0,0","694,694","0,0","0,0","2,1","0.00151286,0.00075643","1322,1322","2,1","0,0","0,0","0,0","978,978","0,0","0,0","2,0","0.00198807,0","1006,1006","2,0","0,0","0,0","0,0","1008,1008","0,0","0,0"]
["9:114982798","T/G",null,"PASS","0.5","3,3",6,91,"0/1","PTBP3","3_prime_UTR_variant","Other","NM_001244898.1","NM_001244898.1:c.*3333A>C",null,"NM_001244898.1,NM_005156.6,NM_001163788.2,NM_001163790.2,NM_001244897.1,NM_001244896.1","14,15,14,15,14,13",",,,,,","PTBP3,PTBP3,PTBP3,PTBP3,PTBP3,PTBP3","NM_001244898.1,NM_005156.6,NM_001163788.2,NM_001163790.2,NM_001244897.1,NM_001244896.1","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","-,-,-,-,-,-","NP_001231827.1,NP_005147.3,NP_001157260.1,NP_001157262.1,NP_001231826.1,NP_001231825.1","NP_001231827.1,NP_005147.3,NP_001157260.1,NP_001157262.1,NP_001231826.1,NP_001231825.1","9991,9991,9991,9991,9991,9991","10253,10253,10253,10253,10253,10253","607527,607527,607527,607527,607527,607527","CCDS59141.1,CCDS6784.1,CCDS55332.1,CCDS55333.1,,CCDS59140.1","09603,09603,09603,09603,09603,09603","polypyrimidine tract-binding protein 3 isoform 6,polypyrimidine tract-binding protein 3 isoform 1,polypyrimidine tract-binding protein 3 isoform 2,polypyrimidine tract-binding protein 3 isoform 3,polypyrimidine tract-binding protein 3 isoform 5,polypyrimidine tract-binding protein 3 isoform 4",",,,,,","True","T/G","rs7859107","Has SubmitterLinkOut,In 3' UTR,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","116","SNV","0.4327,0.5673","True","T/G","rs7859107",null,17446,"2841","0.567292",5008,1031,905,"313","0.451009",694,169,72,"1147","0.867625",1322,157,495,"508","0.519427",978,224,142,"475","0.472167",1006,247,114,"398","0.394841",1008,234,82,"False"]
["9:116856481","C/A",null,"PASS","0.616279","33,53",86,99,"0/1","KIF12","missense_variant","Missense","NM_138424.1","NM_138424.1:c.879G>T","NP_612433.1:p.Met293Ile","NM_138424.1","10","56.939","KIF12","NM_138424.1","mRNA","mRNA","-","NP_612433.1","NP_612433.1","113220","21495","611278","CCDS6801.1","13914","kinesin-like protein KIF12",null,"True","C/A","rs35719524","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","126","SNV","0.9032,0.09685","True","C/A","rs35719524","EX_TARGET",16353,"485","0.096845",5008,419,33,"73","0.105187",694,67,3,"161","0.121785",1322,141,10,"85","0.0869121",978,77,4,"165","0.164016",1006,133,16,"1","0.000992064",1008,1,0,"True","esv3621549","Gain","<CN2>","DUP_delly","IMPRECISE,EX_TARGET","13874","1","0.000199681","5008","1","0","0","0","694","0","0","0","0","1322","0","0","0","0","978","0","0","1","0.000994036","1006","1","0","0","0","1008","0","0"]
["9:119163989","A/G",null,"PASS","0.218447","161,45",206,99,"0/1","PAPPA","3_prime_UTR_variant","Other","NM_002581.4","NM_002581.4:c.*5094A>G",null,"NM_002581.4","22",null,"PAPPA","NM_002581.4","mRNA","mRNA","+","NP_002572.2","NP_002572.2","5069","8602","176385","CCDS6813.1",null,"pappalysin-1 preproprotein",null,"True","A/G","rs6548","Has SubmitterLinkOut,In 3' UTR,In 5' gene region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","52","SNV","0.6993,0.3007","True","A/G","rs6548",null,10564,"1506","0.300719",5008,1004,251,"316","0.455331",694,162,77,"214","0.161876",1322,190,12,"333","0.340491",978,215,59,"274","0.272366",1006,198,38,"369","0.366071",1008,239,65,"False"]
["9:129647028","A/G",null,"PASS","0.676056","46,96",142,99,"0/1","ZBTB34","3_prime_UTR_variant","Other","NM_001099270.1","NM_001099270.1:c.*3835A>G",null,"NM_001099270.1","2",null,"ZBTB34","NM_001099270.1","mRNA","mRNA","+","NP_001092740.1","NP_001092740.1","403341","31446","611692","CCDS48023.1",null,"zinc finger and BTB domain-containing protein 34",null,"True","A/G","rs571606","RS orientation is reversed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","83","SNV","0.9297,0.07029","True","A/G","rs571606",null,17106,"352","0.0702875",5008,312,20,"87","0.12536",694,77,5,"120","0.0907716",1322,108,6,"19","0.0194274",978,17,1,"121","0.120278",1006,105,8,"5","0.00496032",1008,5,0,"True","esv3621766","Gain","<CN2>","DUP_delly","IMPRECISE,EX_TARGET","17291","1","0.000199681","5008","1","0","0","0","694","0","0","0","0","1322","0","0","0","0","978","0","0","1","0.000994036","1006","1","0","0","0","1008","0","0"]
["9:130703789","G/A",null,"PASS","0.632653","36,62",98,99,"0/1","FAM102A","3_prime_UTR_variant","Other","NM_001035254.2","NM_001035254.2:c.*1682C>T",null,"NM_203305.2,NM_001035254.2","8,11",",","FAM102A,FAM102A","NM_203305.2,NM_001035254.2","mRNA,mRNA","mRNA,mRNA","-,-","NP_976050.1,NP_001030331.1","NP_976050.1,NP_001030331.1","399665,399665","31419,31419","610891,610891","CCDS6888.1,CCDS35150.1","13262,13262","protein FAM102A isoform b,protein FAM102A isoform a",",","True","G/A","rs6478803","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","116","SNV","0.3161,0.6839","True","G/A","rs6478803",null,17890,"3425","0.683906",5008,965,1230,"593","0.854467",694,89,252,"856","0.647504",1322,296,280,"647","0.661554",978,225,211,"876","0.870775",1006,112,382,"453","0.449405",1008,243,105,"False"]
["9:132484782","T/C",null,"PASS","0.359375","41,23",64,99,"0/1","PRRX2","3_prime_UTR_variant","Other","NM_016307.3","NM_016307.3:c.*151T>C",null,"NM_016307.3","4",null,"PRRX2","NM_016307.3","mRNA","mRNA","+","NP_057391.1","NP_057391.1","51450","21338","604675","CCDS6926.1","05244","paired mesoderm homeobox protein 2",null,"True","T/C","rs1051445","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","86","SNV","0.7965,0.2035","True","T/C","rs1051445",null,14227,"1019","0.203474",5008,735,142,"59","0.0850144",694,57,1,"502","0.379728",1322,300,101,"187","0.191207",978,149,19,"84","0.083499",1006,78,3,"187","0.185516",1008,151,18,"True","esv3621839;esv3621840,esv3621839;esv3621840","Loss,Gain","<CN0>,<CN2>","DUP_uwash,DUP_uwash","EX_TARGET,EX_TARGET","25589,25589","313,2","0.0625,0.000399361","5008,5008","311,2","1,0","51,1","0.073487,0.00144092","694,694","51,1","0,0","16,1","0.0121029,0.00075643","1322,1322","16,1","0,0","207,0","0.211656,0","978,978","205,0","1,0","4,0","0.00397614,0","1006,1006","4,0","0,0","35,0","0.0347222,0","1008,1008","35,0","0,0"]
["9:133996439","C/T",null,"PASS","0.705882","25,60",85,99,"0/1","AIF1L","3_prime_UTR_variant","Other","NM_001185095.1","NM_001185095.1:c.*730C>T",null,"NM_001185095.1,NM_001185096.1,NM_031426.3","7,6,6",",,","AIF1L,AIF1L,AIF1L","NM_001185095.1,NM_001185096.1,NM_031426.3","mRNA,mRNA,mRNA","mRNA,mRNA,mRNA","+,+,+","NP_001172024.1,NP_001172025.1,NP_113614.1","NP_001172024.1,NP_001172025.1,NP_113614.1","83543,83543,83543","28904,28904,28904",",,","CCDS55348.1,CCDS55349.1,CCDS6939.1",",,","allograft inflammatory factor 1-like isoform 3,allograft inflammatory factor 1-like isoform 4,allograft inflammatory factor 1-like isoform 1",",,","True","C/T","rs2281906","RS orientation is reversed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","100","SNV","0.6991,0.3009","True","C/T","rs2281906",null,19366,"1507","0.300919",5008,1011,248,"126","0.181556",694,100,13,"457","0.345688",1322,285,86,"300","0.306748",978,206,47,"248","0.246521",1006,198,25,"376","0.373016",1008,222,77,"True","esv3621866","Gain","<CN2>","DUP_delly","IMPRECISE,EX_TARGET","15722","1","0.000199681","5008","1","0","0","0","694","0","0","0","0","1322","0","0","0","0","978","0","0","1","0.000994036","1006","1","0","0","0","1008","0","0"]
["9:138523332","C/A",null,"PASS","0.730496","38,103",141,99,"0/1","GLT6D1","splice_region_variant","Other","NM_182974.2","NM_182974.2:c.72-8G>T",null,"NM_182974.2","3",null,"GLT6D1","NM_182974.2","mRNA","mRNA","-","NP_892019.2","NP_892019.2","360203","23671","613699","CCDS43900.1",null,"glycosyltransferase 6 domain-containing protein 1 precursor",null,"True","C/A","rs1333234","RS orientation is reversed,Has SubmitterLinkOut,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","88","SNV","0.1911,0.8089","True","C/A","rs1333234","EX_TARGET",18498,"4051","0.808906",5008,721,1665,"561","0.808357",694,101,230,"1036","0.783661",1322,218,409,"783","0.800614",978,161,311,"720","0.715706",1006,190,265,"951","0.943452",1008,51,450,"False"]
["9:139008803","T/G",null,"PASS","0.658537","14,27",41,99,"0/1","C9orf69","5_prime_UTR_variant","Other","NM_152833.2","NM_152833.2:c.-57A>C",null,"NM_001256526.1,NM_152833.2","2,2",",","C9orf69,C9orf69","NM_001256526.1,NM_152833.2","mRNA,mRNA","mRNA,mRNA","-,-","NP_001243455.1,NP_690046.3","NP_001243455.1,NP_690046.3","90120,90120","31009,31009",",","CCDS59155.1,CCDS59155.1",",","protein C9orf69,protein C9orf69",",","True","T/G","rs3739466","Has SubmitterLinkOut,In 5' UTR,In 5' gene region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","107","SNV","0.5517,0.4483","True","T/G","rs3739466",null,9467,"2245","0.448283",5008,1183,531,"299","0.430836",694,147,76,"699","0.528744",1322,313,193,"381","0.389571",978,243,69,"487","0.484095",1006,243,122,"379","0.375992",1008,237,71,"False"]
["9:139740010","T/C",null,"PASS","0.4","48,32",80,99,"0/1","C9orf172","missense_variant","Missense","NM_001080482.2","NM_001080482.2:c.1144T>C","NP_001073951.2:p.Tyr382His","NM_001080482.2","1","38.9969","C9orf172","NM_001080482.2","mRNA","mRNA","+","NP_001073951.2","NP_001073951.2","389813","37284",null,"CCDS48059.1",null,"uncharacterized protein C9orf172",null,"True","T/C","rs201654604","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,1000 Genome phase 3","137","SNV","0.994,0.00599","True","T/C","rs201654604","EX_TARGET",12075,"30","0.00599042",5008,28,1,"0","0",694,0,0,"28","0.02118",1322,26,1,"1","0.00102249",978,1,0,"1","0.000994036",1006,1,0,"0","0",1008,0,0,"True","esv3622017","Gain","<CN2>","DUP_gs","EX_TARGET","9500","69","0.013778","5008","69","0","11","0.0158501","694","11","0","29","0.0219365","1322","29","0","7","0.00715746","978","7","0","8","0.00795229","1006","8","0","14","0.0138889","1008","14","0"]
["10:3200292","G/A",null,"PASS","0.758621","28,88",116,99,"0/1","PITRM1","missense_variant","Missense","NM_001242307.1","NM_001242307.1:c.1190C>T","NP_001229236.1:p.Ala397Val","NM_001347730.1,NM_001347729.1,NM_001242307.1,NM_001347725.1,NM_001347728.1,NM_014889.3,NM_001347727.1,NM_001347726.1,NM_001242309.1","11,11,11,11,11,11,11,11,10","40.2835,37.7023,38.1457,40.775,,38.1824,22.9692,24.9457,38.7589","PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1,PITRM1","NM_001347730.1,NM_001347729.1,NM_001242307.1,NM_001347725.1,NM_001347728.1,NM_014889.3,NM_001347727.1,NM_001347726.1,NM_001242309.1","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","-,-,-,-,-,-,-,-,-","NP_001334659.1,NP_001334658.1,NP_001229236.1,NP_001334654.1,NP_001334657.1,NP_055704.2,NP_001334656.1,NP_001334655.1,NP_001229238.1","NP_001334659.1,NP_001334658.1,NP_001229236.1,NP_001334654.1,NP_001334657.1,NP_055704.2,NP_001334656.1,NP_001334655.1,NP_001229238.1","10531,10531,10531,10531,10531,10531,10531,10531,10531","17663,17663,17663,17663,17663,17663,17663,17663,17663",",,,,,,,,",",,CCDS55699.1,,,CCDS59208.1,,,CCDS55700.1",",,,,,,,,","presequence protease, mitochondrial isoform 9,presequence protease, mitochondrial isoform 8,presequence protease, mitochondrial isoform 1 precursor,presequence protease, mitochondrial isoform 4 precursor,presequence protease, mitochondrial isoform 7,presequence protease, mitochondrial isoform 2 precursor,presequence protease, mitochondrial isoform 6,presequence protease, mitochondrial isoform 5,presequence protease, mitochondrial isoform 3",",,,,,,,,","True","G/A","rs3182535","RS orientation is reversed,Has 3D structure,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","105","SNV","0.374,0.626","True","G/A","rs3182535","EX_TARGET",17501,"3135","0.625998",5008,1145,995,"394","0.567723",694,176,109,"756","0.571861",1322,310,223,"664","0.678937",978,214,225,"714","0.709742",1006,212,251,"607","0.602183",1008,233,187,"True","esv3622167","Gain","<CN2>","DUP_gs","EX_TARGET","17370","1","0.000199681","5008","1","0","0","0","694","0","0","0","0","1322","0","0","0","0","978","0","0","0","0","1006","0","0","1","0.000992064","1008","1","0"]
["10:13239651","A/G",null,"PASS","0.632743","83,143",226,99,"0/1","MCM10","missense_variant","Missense","NM_182751.2","NM_182751.2:c.2006A>G","NP_877428.1:p.Lys669Arg","NM_182751.2,NM_018518.4","15,15","76.2938,76.2667","MCM10,MCM10","NM_182751.2,NM_018518.4","mRNA,mRNA","mRNA,mRNA","+,+","NP_877428.1,NP_060988.3","NP_877428.1,NP_060988.3","55388,55388","18043,18043","609357,609357","CCDS7096.1,CCDS7095.1","11297,11297","protein MCM10 homolog isoform 1,protein MCM10 homolog isoform 2",",","True","A/G","rs2274110","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","100","SNV","0.8908,0.1092","True","A/G","rs2274110","EX_TARGET",16861,"547","0.109225",5008,451,48,"93","0.134006",694,75,9,"17","0.0128593",1322,15,1,"140","0.143149",978,118,11,"196","0.194831",1006,160,18,"101","0.100198",1008,83,9,"False"]
["10:17024503","G/A",null,"PASS","0.385135","91,57",148,99,"0/1","CUBN","missense_variant","Missense","NM_001081.3","NM_001081.3:c.4675C>T","NP_001072.2:p.Pro1559Ser","NM_001081.3","31","42.9912","CUBN","NM_001081.3","mRNA","mRNA","-","NP_001072.2","NP_001072.2","8029","2548","602997","CCDS7113.1",null,"cubilin precursor","LRG_540t1","True","G/A","rs1801231","RS orientation is reversed,Has 3D structure,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","89","SNV","0.3866,0.6134","True","G/A","rs1801231","EX_TARGET",18767,"3072","0.613419",5008,968,1052,"435","0.626801",694,161,137,"462","0.34947",1322,290,86,"739","0.755624",978,169,285,"873","0.867793",1006,111,381,"563","0.558532",1008,237,163,"False",{"$nulls":36},"G/A","299479","Benign","Benign","Benign (1)","(1 Stars) Criteria Provided, Single Submitter","rs1801231","CUBN","8029","NC_000010.10:g.17024503G>A","NC_000010.11:g.16982504G>A","NM_001081.3:c.4675C>T","NP_001072.2:p.Pro1559Ser","RCV000282079","Megaloblastic anemia","Benign","(1 Stars) Criteria Provided, Single Submitter","2016-06-14"]
["10:18828670","T/-",null,"MQ40","0.8125","6,26",69,99,"0/1","CACNB2","3_prime_UTR_variant","Other","NM_201590.2","NM_201590.2:c.*35delT",null,"NM_201596.2,NM_201597.2,NM_201593.2,NM_001167945.1,NM_201571.3,NM_201572.3,NM_001330060.1,NM_000724.3,NM_201590.2,NM_201570.2","14,14,14,14,14,14,13,13,13,13",",,,,,,,,,","CACNB2,CACNB2,CACNB2,CACNB2,CACNB2,CACNB2,CACNB2,CACNB2,CACNB2,CACNB2","NM_201596.2,NM_201597.2,NM_201593.2,NM_001167945.1,NM_201571.3,NM_201572.3,NM_001330060.1,NM_000724.3,NM_201590.2,NM_201570.2","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","+,+,+,+,+,+,+,+,+,+","NP_963890.2,NP_963891.1,NP_963887.2,NP_001161417.1,NP_963865.2,NP_963866.2,NP_001316989.1,NP_000715.2,NP_963884.2,NP_963864.1","NP_963890.2,NP_963891.1,NP_963887.2,NP_001161417.1,NP_963865.2,NP_963866.2,NP_001316989.1,NP_000715.2,NP_963884.2,NP_963864.1","783,783,783,783,783,783,783,783,783,783","1402,1402,1402,1402,1402,1402,1402,1402,1402,1402","600003,600003,600003,600003,600003,600003,600003,600003,600003,600003","CCDS7125.1,CCDS7126.1,,,CCDS7127.1,CCDS41493.1,CCDS81442.1,CCDS7128.1,CCDS41494.1,CCDS7129.1",",,,,,,,,,","voltage-dependent L-type calcium channel subunit beta-2 isoform 2,voltage-dependent L-type calcium channel subunit beta-2 isoform 4,voltage-dependent L-type calcium channel subunit beta-2 isoform 5,voltage-dependent L-type calcium channel subunit beta-2 isoform 9,voltage-dependent L-type calcium channel subunit beta-2 isoform 6,voltage-dependent L-type calcium channel subunit beta-2 isoform 8,voltage-dependent L-type calcium channel subunit beta-2 isoform 10,voltage-dependent L-type calcium channel subunit beta-2 isoform 1,voltage-dependent L-type calcium channel subunit beta-2 isoform 3,voltage-dependent L-type calcium channel subunit beta-2 isoform 7",",,,,,,,,,","True","T/-,T/-","rs773659864,rs869038568","In 3' UTR,Is Assembly specific,In 3' UTR,Is Assembly specific","144,147","DIV,DIV",null,",",{"$nulls":34},"False",{"$nulls":36},"T/-","522256","Benign","Benign","Benign (1)","(1 Stars) Criteria Provided, Single Submitter","rs34022725","CACNB2,NSUN6","783,221078","NC_000010.10:g.18828671delT","NC_000010.11:g.18539742delT","NM_000724.3:c.*18delT",null,"RCV000625137","Brugada syndrome 4","Benign","(1 Stars) Criteria Provided, Single Submitter","2016-12-13"]
["10:27400861","G/A",null,"PASS","0.678161","56,118",174,99,"0/1","YME1L1","3_prime_UTR_variant","Other","NM_139312.2","NM_139312.2:c.*45C>T",null,"NM_139312.2,NM_014263.3,NM_001253866.1","20,19,18",",,","YME1L1,YME1L1,YME1L1","NM_139312.2,NM_014263.3,NM_001253866.1","mRNA,mRNA,mRNA","mRNA,mRNA,mRNA","-,-,-","NP_647473.1,NP_055078.1,NP_001240795.1","NP_647473.1,NP_055078.1,NP_001240795.1","10730,10730,10730","12843,12843,12843","607472,607472,607472","CCDS7152.1,CCDS7151.1,CCDS58072.1","06981,06981,06981","ATP-dependent zinc metalloprotease YME1L1 isoform 1,ATP-dependent zinc metalloprotease YME1L1 isoform 3,ATP-dependent zinc metalloprotease YME1L1 isoform 4",",,","True","G/A","rs9833","RS orientation is reversed,Variant is Precious,Links exist to PubMed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","52","SNV","0.1276,0.8724","True","G/A","rs9833","EX_TARGET",18211,"4369","0.872404",5008,513,1928,"497","0.716138",694,141,178,"1177","0.890318",1322,127,525,"865","0.884458",978,101,382,"834","0.829026",1006,132,351,"996","0.988095",1008,12,492,"True","esv3622707","Gain","<CN2>","DUP_gs","EX_TARGET","15375","1","0.000199681","5008","1","0","0","0","694","0","0","0","0","1322","0","0","1","0.00102249","978","1","0","0","0","1006","0","0","0","0","1008","0","0"]
["10:29746905","C/T",null,"PASS","0.32","17,8",25,99,"0/1","SVIL","3_prime_UTR_variant","Other","NM_021738.2","NM_021738.2:c.*271G>A",null,"NM_021738.2,NM_003174.3,NM_001323600.1,NM_001323599.1","38,36,37,39",",,,","SVIL,SVIL,SVIL,SVIL","NM_021738.2,NM_003174.3,NM_001323600.1,NM_001323599.1","mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA","-,-,-,-","NP_068506.2,NP_003165.2,NP_001310529.1,NP_001310528.1","NP_068506.2,NP_003165.2,NP_001310529.1,NP_001310528.1","6840,6840,6840,6840","11480,11480,11480,11480","604126,604126,604126,604126","CCDS7164.1,CCDS7163.1,,",",,,","supervillin isoform 2,supervillin isoform 1,supervillin isoform 4,supervillin isoform 3",",,,","True","C/T","rs67207304","Has SubmitterLinkOut,In 3' UTR,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","130","SNV","0.9495,0.05052","True","C/T","rs67207304",null,13147,"253","0.0505192",5008,229,12,"37","0.0533141",694,37,0,"49","0.0370651",1322,47,1,"29","0.0296524",978,25,2,"137","0.136183",1006,119,9,"1","0.000992064",1008,1,0,"False"]
["10:43624833","T/C",null,"PASS","0.350746","87,47",134,99,"0/1","RET","3_prime_UTR_variant","Other","NM_020975.4","NM_020975.4:c.*1116T>C",null,"NM_020975.4","20",null,"RET","NM_020975.4","mRNA","mRNA","+","NP_066124.1","NP_066124.1","5979","9967","164761","CCDS7200.1","01266","proto-oncogene tyrosine-protein kinase receptor Ret isoform a precursor","LRG_518t1","True","T/C","rs2435355","Variant is Precious,Links exist to PubMed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","100","SNV","0.8101,0.1899","True","T/C","rs2435355",null,21561,"951","0.189896",5008,759,96,"146","0.210375",694,112,17,"196","0.14826",1322,170,13,"170","0.173824",978,130,20,"237","0.235586",1006,179,29,"202","0.200397",1008,168,17,"False",{"$nulls":36},"T/C","299925","Likely Benign","Likely Benign","Likely benign (4)","(1 Stars) Criteria Provided, Single Submitter","rs2435355","RET","5979","NC_000010.10:g.43624833T>C","NC_000010.11:g.43129385T>C","NM_020975.5:c.*1116T>C",null,"RCV000260152,RCV000284603,RCV000324757,RCV000379318","Multiple endocrine neoplasia,Hirschsprung Disease, Dominant,Pheochromocytoma,Renal adysplasia","Likely Benign,Likely Benign,Likely Benign,Likely Benign","(1 Stars) Criteria Provided, Single Submitter,(1 Stars) Criteria Provided, Single Submitter,(1 Stars) Criteria Provided, Single Submitter,(1 Stars) Criteria Provided, Single Submitter","2016-06-14,2016-06-14,2016-06-14,2016-06-14"]
["10:47000321","G/A",null,"PASS","0.497758","112,111",223,99,"0/1","GPRIN2","3_prime_UTR_variant","Other","NM_014696.3","NM_014696.3:c.*64G>A",null,"NM_014696.3","3",null,"GPRIN2","NM_014696.3","mRNA","mRNA","+","NP_055511.2","NP_055511.2","9721","23730","611240","CCDS73101.1",null,"G protein-regulated inducer of neurite outgrowth 2",null,"True","G/A","rs28689656","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,Genotypes available","125","SNV",{"$nulls":36},"True","esv3623112;esv3623113;esv3623114,esv3623112;esv3623113;esv3623114,esv3623112;esv3623113;esv3623114","Gain,Gain,Gain","<CN2>,<CN3>,<CN4>","DUP_gs,DUP_gs,DUP_gs","EX_TARGET,EX_TARGET,EX_TARGET","34410,34410,34410","4472,357,91","0.892971,0.0712859,0.0181709","5008,5008,5008","456,323,85","2008,17,3","629,42,14","0.90634,0.0605187,0.0201729","694,694,694","57,38,14","286,2,0","1184,94,13","0.895613,0.0711044,0.00983359","1322,1322,1322","126,90,11","529,2,1","867,76,23","0.886503,0.0777096,0.0235174","978,978,978","97,68,19","385,4,2","830,109,39","0.82505,0.10835,0.0387674","1006,1006,1006","134,91,39","348,9,0","962,36,2","0.954365,0.0357143,0.00198413","1008,1008,1008","42,36,2","460,0,0"]
["10:51612914","T/C",null,"MQ40","0.833333","1,5",6,14,"0/1","TIMM23,TIMM23B","missense_variant","Missense","NM_006327.3,NM_001290117.1","NM_006327.3:c.334A>G,NM_001290117.1:c.515-119858T>C","NP_006318.1:p.Arg112Gly,","NM_001290118.1,NM_001290117.1,NM_006327.3","5,7,4",",,52.8571","TIMM23B,TIMM23B,TIMM23","NM_001290118.1,NM_001290117.1,NM_006327.3","mRNA,mRNA,mRNA","mRNA,mRNA,mRNA","+,+,-","NP_001277047.1,NP_001277046.1,NP_006318.1","NP_001277047.1,NP_001277046.1,NP_006318.1","100652748,100652748,100287932","23581,23581,17312",",,605034","CCDS76301.1,CCDS73131.1,CCDS73091.1",",,16089","putative mitochondrial import inner membrane translocase subunit Tim23B isoform 2,putative mitochondrial import inner membrane translocase subunit Tim23B isoform 1,mitochondrial import inner membrane translocase subunit Tim23",",,","True","T/C","rs61849498","RS orientation is reversed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,In Intron,Is Assembly specific,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available","129","SNV",{"$nulls":36},"True","esv3623189;esv3623190,esv3623189;esv3623190","Gain,Gain","<CN2>,<CN3>","DUP_uwash,DUP_uwash","EX_TARGET,EX_TARGET","11155,11155","4983,23","0.995008,0.00459265","5008,5008","21,19","2481,2","691,2","0.995677,0.00288184","694,694","3,2","344,0","1300,21","0.983359,0.015885","1322,1322","18,17","641,2","978,0","1,0","978,978","0,0","489,0","1006,0","1,0","1006,1006","0,0","503,0","1008,0","1,0","1008,1008","0,0","504,0"]
["10:51623147","C/T",null,"MQ40","0.543269","95,113",208,99,"0/1","TIMM23,TIMM23B","missense_variant","Missense","NM_006327.3,NM_001290117.1","NM_006327.3:c.68G>A,NM_001290117.1:c.515-109625C>T","NP_006318.1:p.Gly23Glu,","NM_001290118.1,NM_001290117.1,NM_006327.3","5,7,1",",,10.6349","TIMM23B,TIMM23B,TIMM23","NM_001290118.1,NM_001290117.1,NM_006327.3","mRNA,mRNA,mRNA","mRNA,mRNA,mRNA","+,+,-","NP_001277047.1,NP_001277046.1,NP_006318.1","NP_001277047.1,NP_001277046.1,NP_006318.1","100652748,100652748,100287932","23581,23581,17312",",,605034","CCDS76301.1,CCDS73131.1,CCDS73091.1",",,16089","putative mitochondrial import inner membrane translocase subunit Tim23B isoform 2,putative mitochondrial import inner membrane translocase subunit Tim23B isoform 1,mitochondrial import inner membrane translocase subunit Tim23",",,","True","C/T","rs4935252","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,In Intron,In 5' gene region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available","111","SNV",{"$nulls":36},"True","esv3623189;esv3623190,esv3623189;esv3623190","Gain,Gain","<CN2>,<CN3>","DUP_uwash,DUP_uwash","EX_TARGET,EX_TARGET","11155,11155","4983,23","0.995008,0.00459265","5008,5008","21,19","2481,2","691,2","0.995677,0.00288184","694,694","3,2","344,0","1300,21","0.983359,0.015885","1322,1322","18,17","641,2","978,0","1,0","978,978","0,0","489,0","1006,0","1,0","1006,1006","0,0","503,0","1008,0","1,0","1008,1008","0,0","504,0"]
["10:70101417","G/C",null,"PASS","0.512195","40,42",82,99,"0/1","HNRNPH3","missense_variant","Missense","NM_012207.2","NM_012207.2:c.851G>C","NP_036339.1:p.Gly284Ala","NM_001322445.1,NM_001322438.1,NM_001322443.1,NM_012207.2,NM_001322442.1,NM_001322434.1,NM_001322448.1,NM_001322439.1,NM_001322453.1,NM_001322450.1,NM_021644.3,NM_001322446.1,NM_001322452.1,NM_001322444.1,NM_001322436.1,NM_001322440.1,NM_001322447.1,NM_001322451.1,NM_001322437.1,NM_001322441.1,NM_001322449.1","7,8,8,8,8,8,7,8,7,7,8,7,7,6,8,8,7,7,8,8,7","70.5247,80.8233,81.3294,81.6523,81.3294,81.6523,70.5247,80.8233,64.2322,69.6825,80.8233,70.5247,64.2322,73.3612,81.6523,80.8233,70.5247,64.2322,81.6523,80.8233,70.5247","HNRNPH3,HNRNPH3,HNRNPH3,HNRNPH3,HNRNPH3,HNRNPH3,HNRNPH3,HNRNPH3,HNRNPH3,HNRNPH3,HNRNPH3,HNRNPH3,HNRNPH3,HNRNPH3,HNRNPH3,HNRNPH3,HNRNPH3,HNRNPH3,HNRNPH3,HNRNPH3,HNRNPH3","NM_001322445.1,NM_001322438.1,NM_001322443.1,NM_012207.2,NM_001322442.1,NM_001322434.1,NM_001322448.1,NM_001322439.1,NM_001322453.1,NM_001322450.1,NM_021644.3,NM_001322446.1,NM_001322452.1,NM_001322444.1,NM_001322436.1,NM_001322440.1,NM_001322447.1,NM_001322451.1,NM_001322437.1,NM_001322441.1,NM_001322449.1","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","+,+,+,+,+,+,+,+,+,+,+,+,+,+,+,+,+,+,+,+,+","NP_001309374.1,NP_001309367.1,NP_001309372.1,NP_036339.1,NP_001309371.1,NP_001309363.1,NP_001309377.1,NP_001309368.1,NP_001309382.1,NP_001309379.1,NP_067676.2,NP_001309375.1,NP_001309381.1,NP_001309373.1,NP_001309365.1,NP_001309369.1,NP_001309376.1,NP_001309380.1,NP_001309366.1,NP_001309370.1,NP_001309378.1","NP_001309374.1,NP_001309367.1,NP_001309372.1,NP_036339.1,NP_001309371.1,NP_001309363.1,NP_001309377.1,NP_001309368.1,NP_001309382.1,NP_001309379.1,NP_067676.2,NP_001309375.1,NP_001309381.1,NP_001309373.1,NP_001309365.1,NP_001309369.1,NP_001309376.1,NP_001309380.1,NP_001309366.1,NP_001309370.1,NP_001309378.1","3189,3189,3189,3189,3189,3189,3189,3189,3189,3189,3189,3189,3189,3189,3189,3189,3189,3189,3189,3189,3189","5043,5043,5043,5043,5043,5043,5043,5043,5043,5043,5043,5043,5043,5043,5043,5043,5043,5043,5043,5043,5043","602324,602324,602324,602324,602324,602324,602324,602324,602324,602324,602324,602324,602324,602324,602324,602324,602324,602324,602324,602324,602324",",CCDS7279.1,,CCDS7278.1,,CCDS7278.1,,CCDS7279.1,,,CCDS7279.1,,,,CCDS7278.1,CCDS7279.1,,,CCDS7278.1,CCDS7279.1,",",,,,,,,,,,,,,,,,,,,,","heterogeneous nuclear ribonucleoprotein H3 isoform e,heterogeneous nuclear ribonucleoprotein H3 isoform b,heterogeneous nuclear ribonucleoprotein H3 isoform c,heterogeneous nuclear ribonucleoprotein H3 isoform a,heterogeneous nuclear ribonucleoprotein H3 isoform c,heterogeneous nuclear ribonucleoprotein H3 isoform a,heterogeneous nuclear ribonucleoprotein H3 isoform e,heterogeneous nuclear ribonucleoprotein H3 isoform b,heterogeneous nuclear ribonucleoprotein H3 isoform g,heterogeneous nuclear ribonucleoprotein H3 isoform f,heterogeneous nuclear ribonucleoprotein H3 isoform b,heterogeneous nuclear ribonucleoprotein H3 isoform e,heterogeneous nuclear ribonucleoprotein H3 isoform g,heterogeneous nuclear ribonucleoprotein H3 isoform d,heterogeneous nuclear ribonucleoprotein H3 isoform a,heterogeneous nuclear ribonucleoprotein H3 isoform b,heterogeneous nuclear ribonucleoprotein H3 isoform e,heterogeneous nuclear ribonucleoprotein H3 isoform g,heterogeneous nuclear ribonucleoprotein H3 isoform a,heterogeneous nuclear ribonucleoprotein H3 isoform b,heterogeneous nuclear ribonucleoprotein H3 isoform e",",,,,,,,,,,,,,,,,,,,,","True","G/C","rs16925347","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","123","SNV","0.9635,0.03654","True","G/C","rs16925347","EX_TARGET",17232,"183","0.0365415",5008,157,13,"68","0.0979827",694,52,8,"4","0.00302572",1322,4,0,"25","0.0255624",978,23,1,"85","0.084493",1006,77,4,"1","0.000992064",1008,1,0,"False"]
["10:72518009","A/G",null,"PASS","0.527473","43,48",91,99,"0/1","ADAMTS14","missense_variant","Missense","NM_139155.3","NM_139155.3:c.3155A>G","NP_631894.2:p.Glu1052Gly","NM_139155.3,NM_080722.4","21,21","85.6832,85.6481","ADAMTS14,ADAMTS14","NM_139155.3,NM_080722.4","mRNA,mRNA","mRNA,mRNA","+,+","NP_631894.2,NP_542453.2","NP_631894.2,NP_542453.2","140766,140766","14899,14899","607506,607506","CCDS7307.1,CCDS7306.1",",","A disintegrin and metalloproteinase with thrombospondin motifs 14 isoform 1 precursor,A disintegrin and metalloproteinase with thrombospondin motifs 14 isoform 2 preproprotein",",","True","A/G","rs4747096","Variant is Precious,Links exist to PubMed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","111","SNV","0.7819,0.2181","True","A/G","rs4747096","EX_TARGET",21129,"1092","0.218051",5008,818,137,"160","0.230548",694,128,16,"224","0.16944",1322,188,18,"149","0.152352",978,123,13,"186","0.184891",1006,158,14,"373","0.37004",1008,221,76,"False"]
["10:75434641","G/A",null,"MQ40","0.272727","160,60",220,99,"0/1","AGAP5","missense_variant","Missense","NM_001144000.1","NM_001144000.1:c.1777C>T","NP_001137472.1:p.Arg593Trp","NM_001144000.1","8","86.1718","AGAP5","NM_001144000.1","mRNA","mRNA","-","NP_001137472.1","NP_001137472.1","729092","23467",null,"CCDS44439.1",null,"arf-GAP with GTPase, ANK repeat and PH domain-containing protein 5",null,"True","G/A","rs3957125","RS orientation is reversed,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations","108","SNV",{"$nulls":36},"False"]
["10:81114060","G/A",null,"PASS","0.453488","47,39",86,99,"0/1","PPIF","3_prime_UTR_variant","Other","NM_005729.3","NM_005729.3:c.*462G>A",null,"NM_005729.3","6",null,"PPIF","NM_005729.3","mRNA","mRNA","+","NP_005720.1","NP_005720.1","10105","9259","604486","CCDS7358.1","06839","peptidyl-prolyl cis-trans isomerase F, mitochondrial precursor",null,"True","G/A","rs7332","RS orientation is reversed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","52","SNV","0.3504,0.6496","True","G/A","rs7332",null,22285,"3253","0.649561",5008,987,1133,"462","0.665706",694,144,159,"1156","0.874433",1322,144,506,"453","0.46319",978,221,116,"530","0.526839",1006,258,136,"652","0.646825",1008,220,216,"False"]
["10:82280137","T/G",null,"PASS","0.5","15,15",30,99,"0/1","TSPAN14","3_prime_UTR_variant","Other","NM_030927.2","NM_030927.2:c.*2405T>G",null,"NM_030927.2,NM_001128309.1","9,6",",","TSPAN14,TSPAN14","NM_030927.2,NM_001128309.1","mRNA,mRNA","mRNA,mRNA","+,+","NP_112189.2,NP_001121781.1","NP_112189.2,NP_001121781.1","81619,81619","23303,23303",",","CCDS7369.1,CCDS44448.1",",","tetraspanin-14 isoform 1,tetraspanin-14 isoform 2",",","True","T/G","rs1878036","RS orientation is reversed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","92","SNV","0.07568,0.9243","True","T/G","rs1878036",null,18795,"4629","0.924321",5008,317,2156,"617","0.889049",694,59,279,"1280","0.96823",1322,40,620,"919","0.939673",978,57,431,"820","0.815109",1006,148,336,"993","0.985119",1008,13,490,"False"]
["10:88768253","A/G",null,"PASS","0.478873","111,102",213,99,"0/1","AGAP11","missense_variant","Missense","NM_133447.1","NM_133447.1:c.244A>G","NP_597704.1:p.Ile82Val","NM_133447.1","12","14.7005","AGAP11","NM_133447.1","mRNA","mRNA","+","NP_597704.1","NP_597704.1","119385","29421",{"$nulls":3},"arf-GAP with GTPase, ANK repeat and PH domain-containing protein 11",null,"True","A/G","rs2641563","RS orientation is reversed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","100","SNV","0.2089,0.7911","True","A/G","rs2641563","EX_TARGET",17889,"3962","0.791134",5008,764,1599,"522","0.752161",694,126,198,"1135","0.858548",1322,161,487,"656","0.670757",978,214,221,"709","0.704771",1006,199,255,"940","0.93254",1008,64,438,"False"]
["10:91007339","C/T",null,"PASS","0.491379","59,57",116,99,"0/1","LIPA","missense_variant","Missense","NM_000235.3","NM_000235.3:c.67G>A","NP_000226.2:p.Gly23Arg","NM_001127605.2,NM_000235.3,NM_001288979.1","2,2,1","5.5,5.5,","LIPA,LIPA,LIPA","NM_001127605.2,NM_000235.3,NM_001288979.1","mRNA,mRNA,mRNA","mRNA,mRNA,mRNA","-,-,-","NP_001121077.1,NP_000226.2,NP_001275908.1","NP_001121077.1,NP_000226.2,NP_001275908.1","3988,3988,3988","6617,6617,6617","613497,613497,613497","CCDS7401.1,CCDS7401.1,CCDS73160.1",",,","lysosomal acid lipase/cholesteryl ester hydrolase isoform 1 precursor,lysosomal acid lipase/cholesteryl ester hydrolase isoform 1 precursor,lysosomal acid lipase/cholesteryl ester hydrolase isoform 2",",,","True","C/T","rs1051339","RS orientation is reversed,Variant is Precious,Links exist to PubMed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","86","SNV","0.88,0.12","True","C/T","rs1051339","EX_TARGET",11955,"601","0.120008",5008,491,55,"59","0.0850144",694,51,4,"310","0.234493",1322,238,36,"66","0.0674847",978,56,5,"103","0.102386",1006,87,8,"63","0.0625",1008,59,2,"False",{"$nulls":36},"C/T","255612","Likely Benign","Benign/Likely Benign","Benign (2),Likely benign (2)","(2 Stars) Criteria Provided, Multiple Submitters, No Conflicts","rs1051339","LIPA","3988","NC_000010.10:g.91007339C>T","NC_000010.11:g.89247582C>T","NM_001288979.1:c.-120+4155G>A",null,"RCV000252335,RCV000280849,RCV000675917","not specified,Wolman disease,not provided","Benign,Likely Benign,Benign","(1 Stars) Criteria Provided, Single Submitter,(1 Stars) Criteria Provided, Single Submitter,(0 Stars) No Assertion Criteria Provided",",2016-06-14,2015-12-15"]
["10:96361776","C/T",null,"PASS","0.32","51,24",75,99,"0/1","HELLS","3_prime_UTR_variant","Other","NM_001289067.1","NM_001289067.1:c.*397C>T",null,"NM_001289068.1,NM_001289073.1,NM_001289072.1,NM_001289069.1,NM_001289074.1,NM_001289070.1,NM_001289075.1,NM_018063.4,NM_001289067.1,NM_001289071.1","22,21,20,22,23,20,21,22,23,23",",,,,,,,,,","HELLS,HELLS,HELLS,HELLS,HELLS,HELLS,HELLS,HELLS,HELLS,HELLS","NM_001289068.1,NM_001289073.1,NM_001289072.1,NM_001289069.1,NM_001289074.1,NM_001289070.1,NM_001289075.1,NM_018063.4,NM_001289067.1,NM_001289071.1","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","+,+,+,+,+,+,+,+,+,+","NP_001275997.1,NP_001276002.1,NP_001276001.1,NP_001275998.1,NP_001276003.1,NP_001275999.1,NP_001276004.1,NP_060533.2,NP_001275996.1,NP_001276000.1","NP_001275997.1,NP_001276002.1,NP_001276001.1,NP_001275998.1,NP_001276003.1,NP_001275999.1,NP_001276004.1,NP_060533.2,NP_001275996.1,NP_001276000.1","3070,3070,3070,3070,3070,3070,3070,3070,3070,3070","4861,4861,4861,4861,4861,4861,4861,4861,4861,4861","603946,603946,603946,603946,603946,603946,603946,603946,603946,603946",",CCDS73164.1,,,,CCDS73163.1,,CCDS7434.1,CCDS73162.1,CCDS73165.1","07232,07232,07232,07232,07232,07232,07232,07232,07232,07232","lymphoid-specific helicase isoform 3,lymphoid-specific helicase isoform 8,lymphoid-specific helicase isoform 7,lymphoid-specific helicase isoform 4,lymphoid-specific helicase isoform 9,lymphoid-specific helicase isoform 5,lymphoid-specific helicase isoform 10,lymphoid-specific helicase isoform 1,lymphoid-specific helicase isoform 2,lymphoid-specific helicase isoform 6",",,,,,,,,,","True","C/T","rs1048196","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","86","SNV","0.759,0.241","True","C/T","rs1048196",null,19953,"1207","0.241014",5008,877,165,"85","0.122478",694,77,4,"230","0.173979",1322,176,27,"361","0.369121",978,211,75,"206","0.204771",1006,168,19,"325","0.322421",1008,245,40,"False"]
["10:99504630","G/T",null,"PASS","0.52","24,26",50,99,"0/1","ZFYVE27","missense_variant","Missense","NM_001002261.3","NM_001002261.3:c.413G>T","NP_001002261.1:p.Gly138Val","NM_001174119.1,NM_001174122.1,NM_001174121.1,NM_144588.6,NM_001174120.1,NM_001002262.3,NM_001002261.3","3,3,2,4,3,4,3","28.2395,,12.6068,33.3333,,33.9095,32.9337","ZFYVE27,ZFYVE27,ZFYVE27,ZFYVE27,ZFYVE27,ZFYVE27,ZFYVE27","NM_001174119.1,NM_001174122.1,NM_001174121.1,NM_144588.6,NM_001174120.1,NM_001002262.3,NM_001002261.3","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","+,+,+,+,+,+,+","NP_001167590.1,NP_001167593.1,NP_001167592.1,NP_653189.3,NP_001167591.1,NP_001002262.1,NP_001002261.1","NP_001167590.1,NP_001167593.1,NP_001167592.1,NP_653189.3,NP_001167591.1,NP_001002262.1,NP_001002261.1","118813,118813,118813,118813,118813,118813,118813","26559,26559,26559,26559,26559,26559,26559","610243,610243,610243,610243,610243,610243,610243","CCDS53562.1,CCDS53564.1,CCDS53565.1,CCDS31263.1,CCDS53563.1,CCDS31264.1,CCDS31262.1",",,,,,,","protrudin isoform d,protrudin isoform g,protrudin isoform f,protrudin isoform b,protrudin isoform e,protrudin isoform c,protrudin isoform a",",,,,,,","True","G/T","rs10882993","Variant is Precious,Links exist to PubMed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3,Submitted from a locus-specific database","120","SNV","0.3035,0.6965","True","G/T","rs10882993","EX_TARGET",17951,"3488","0.696486",5008,992,1248,"418","0.602305",694,154,132,"1026","0.776097",1322,220,403,"696","0.711656",978,196,250,"801","0.796223",1006,165,318,"547","0.542659",1008,257,145,"False",{"$nulls":36},"G/T","130787","Benign","Benign","Benign (3)","(2 Stars) Criteria Provided, Multiple Submitters, No Conflicts","rs10882993","ZFYVE27","118813","NC_000010.10:g.99504630G>T","NC_000010.11:g.97744873G>T","NM_001002261.3:c.413G>T","NP_001002261.1:p.Gly138Val","RCV000118905,RCV000290843","not specified,Spastic paraplegia, autosomal dominant","Benign,Benign","(1 Stars) Criteria Provided, Single Submitter,(1 Stars) Criteria Provided, Single Submitter","2016-05-02,2016-06-14"]
["10:101654696","T/C",null,"PASS","0.487179","60,57",117,99,"0/1","DNMBP","splice_region_variant","Other","NM_015221.3","NM_015221.3:c.3156+7A>G",null,"NM_001318327.1,NM_001318326.1,NM_015221.3","8,8,11",",,","DNMBP,DNMBP,DNMBP","NM_001318327.1,NM_001318326.1,NM_015221.3","mRNA,mRNA,mRNA","mRNA,mRNA,mRNA","-,-,-","NP_001305256.1,NP_001305255.1,NP_056036.1","NP_001305256.1,NP_001305255.1,NP_056036.1","23268,23268,23268","30373,30373,30373","611282,611282,611282","CCDS81494.1,CCDS81495.1,CCDS7485.1","10918,10918,10918","dynamin-binding protein isoform c,dynamin-binding protein isoform b,dynamin-binding protein isoform a",",,","True","T/C","rs3758394","RS orientation is reversed,Has SubmitterLinkOut,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","107","SNV","0.5439,0.4561","True","T/C","rs3758394","EX_TARGET",19243,"2284","0.45607",5008,1176,554,"332","0.478386",694,182,75,"615","0.465204",1322,325,145,"477","0.48773",978,231,123,"577","0.573559",1006,245,166,"283","0.280754",1008,193,45,"False"]
["10:103901713","C/T",null,"PASS","0.571429","48,64",112,99,"0/1","PPRC1","missense_variant","Missense","NM_015062.4","NM_015062.4:c.3448C>T","NP_055877.3:p.Arg1150Cys","NM_001288728.1,NM_001288727.1,NM_015062.4","5,5,5","66.6883,82.0128,69.009","PPRC1,PPRC1,PPRC1","NM_001288728.1,NM_001288727.1,NM_015062.4","mRNA,mRNA,mRNA","mRNA,mRNA,mRNA","+,+,+","NP_001275657.1,NP_001275656.1,NP_055877.3","NP_001275657.1,NP_001275656.1,NP_055877.3","23082,23082,23082","30025,30025,30025",",,",",CCDS73186.1,CCDS7529.1","15173,15173,15173","peroxisome proliferator-activated receptor gamma coactivator-related protein 1 isoform 3,peroxisome proliferator-activated receptor gamma coactivator-related protein 1 isoform 2,peroxisome proliferator-activated receptor gamma coactivator-related protein 1 isoform 1",",,","True","C/G/T","rs200141759","Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,Marker on high density genotype kit (50K+)","137","SNV",{"$nulls":36},"False"]
["10:105253930","C/T",null,"PASS","0.285714","15,6",21,99,"0/1","NEURL1","5_prime_UTR_variant","Other","NM_004210.4","NM_004210.4:c.-215C>T",null,"NM_004210.4","1",null,"NEURL1","NM_004210.4","mRNA","mRNA","+","NP_004201.3","NP_004201.3","9148","7761","603804","CCDS7551.1",null,"E3 ubiquitin-protein ligase NEURL1",null,"True","C/T","rs3014203","Has SubmitterLinkOut,In 5' UTR,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","101","SNV","0.08466,0.9153","True","C/T","rs3014203",null,7309,"4584","0.915335",5008,348,2118,"579","0.834294",694,91,244,"1293","0.978064",1322,29,632,"907","0.927403",978,63,422,"798","0.793241",1006,164,317,"1007","0.999008",1008,1,503,"False"]
["10:114925803","A/C",null,"QD2,SOR3","0.1875","13,3",16,20,"0/1","TCF7L2","3_prime_UTR_variant","Other","NM_001146274.1","NM_001146274.1:c.*72A>C",null,"NM_001198530.1,NM_001198529.1,NM_001146285.1,NM_001198526.1,NM_001146286.1,NM_001198525.1,NM_001146283.1,NM_001198531.1,NM_001146274.1,NM_001198527.1,NM_030756.4,NM_001198528.1,NM_001146284.1","11,13,13,13,12,15,13,13,14,15,14,15,13",",,,,,,,,,,,,","TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2,TCF7L2","NM_001198530.1,NM_001198529.1,NM_001146285.1,NM_001198526.1,NM_001146286.1,NM_001198525.1,NM_001146283.1,NM_001198531.1,NM_001146274.1,NM_001198527.1,NM_030756.4,NM_001198528.1,NM_001146284.1","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","+,+,+,+,+,+,+,+,+,+,+,+,+","NP_001185459.1,NP_001185458.1,NP_001139757.1,NP_001185455.1,NP_001139758.1,NP_001185454.1,NP_001139755.1,NP_001185460.1,NP_001139746.1,NP_001185456.1,NP_110383.2,NP_001185457.1,NP_001139756.1","NP_001185459.1,NP_001185458.1,NP_001139757.1,NP_001185455.1,NP_001139758.1,NP_001185454.1,NP_001139755.1,NP_001185460.1,NP_001139746.1,NP_001185456.1,NP_110383.2,NP_001185457.1,NP_001139756.1","6934,6934,6934,6934,6934,6934,6934,6934,6934,6934,6934,6934,6934","11641,11641,11641,11641,11641,11641,11641,11641,11641,11641,11641,11641,11641","602228,602228,602228,602228,602228,602228,602228,602228,602228,602228,602228,602228,602228","CCDS73198.1,,CCDS73197.1,,,CCDS73196.1,CCDS53578.1,,CCDS53577.1,CCDS81504.1,CCDS7576.1,CCDS55729.1,",",,,,,,,,,,,,","transcription factor 7-like 2 isoform 12,transcription factor 7-like 2 isoform 11,transcription factor 7-like 2 isoform 5,transcription factor 7-like 2 isoform 8,transcription factor 7-like 2 isoform 6,transcription factor 7-like 2 isoform 7,transcription factor 7-like 2 isoform 3,transcription factor 7-like 2 isoform 13,transcription factor 7-like 2 isoform 1,transcription factor 7-like 2 isoform 9,transcription factor 7-like 2 isoform 2,transcription factor 7-like 2 isoform 10,transcription factor 7-like 2 isoform 4",",,,,,,,,,,,,","False",{"$nulls":41},"False"]
["10:116055417","C/T",null,"PASS","0.666667","4,8",12,99,"0/1","AFAP1L2","3_prime_UTR_variant","Other","NM_001287824.1","NM_001287824.1:c.*384G>A",null,"NM_032550.3,NM_001001936.2,NM_001287824.1","19,19,20",",,","AFAP1L2,AFAP1L2,AFAP1L2","NM_032550.3,NM_001001936.2,NM_001287824.1","mRNA,mRNA,mRNA","mRNA,mRNA,mRNA","-,-,-","NP_115939.1,NP_001001936.1,NP_001274753.1","NP_115939.1,NP_001001936.1,NP_001274753.1","84632,84632,84632","25901,25901,25901","612420,612420,612420","CCDS31287.1,CCDS31286.1,",",,","actin filament-associated protein 1-like 2 isoform 2,actin filament-associated protein 1-like 2 isoform 1,actin filament-associated protein 1-like 2 isoform 3",",,","True","C/T","rs3750821","RS orientation is reversed,Has SubmitterLinkOut,In 3' UTR,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","107","SNV","0.403,0.597","True","C/T","rs3750821",null,19235,"2990","0.597045",5008,906,1042,"566","0.815562",694,102,232,"268","0.202723",1322,210,29,"629","0.643149",978,227,201,"827","0.822068",1006,141,343,"700","0.694444",1008,226,237,"False"]
["10:123842523","G/A",null,"PASS","0.483333","31,29",60,99,"0/1","TACC2","missense_variant","Missense","NM_206862.3","NM_206862.3:c.508G>A","NP_996744.3:p.Val170Ile","NM_206861.2,NM_001291877.1,NM_206862.3,NM_001291876.1","3,4,4,4",",5.87622,5.73076,5.97807","TACC2,TACC2,TACC2,TACC2","NM_206861.2,NM_001291877.1,NM_206862.3,NM_001291876.1","mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA","+,+,+,+","NP_996743.1,NP_001278806.1,NP_996744.3,NP_001278805.1","NP_996743.1,NP_001278806.1,NP_996744.3,NP_001278805.1","10579,10579,10579,10579","11523,11523,11523,11523","605302,605302,605302,605302","CCDS7625.1,CCDS76349.1,CCDS7626.1,CCDS76348.1",",,,","transforming acidic coiled-coil-containing protein 2 isoform b,transforming acidic coiled-coil-containing protein 2 isoform f,transforming acidic coiled-coil-containing protein 2 isoform a,transforming acidic coiled-coil-containing protein 2 isoform e",",,,","True","G/A","rs11200385","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","120","SNV","0.7947,0.2053","True","G/A","rs11200385","EX_TARGET",18513,"1028","0.205272",5008,726,151,"132","0.190202",694,100,16,"410","0.310136",1322,258,76,"176","0.179959",978,124,26,"210","0.208748",1006,158,26,"100","0.0992064",1008,86,7,"False"]
["10:126677120","G/A",null,"PASS","0.247059","64,21",85,99,"0/1","CTBP2","3_prime_UTR_variant","Other","NM_022802.2","NM_022802.2:c.*967C>T",null,"NM_022802.2,NM_001321014.1,NM_001321013.1,NM_001290215.2,NM_001321012.1,NM_001290214.2,NM_001329.3,NM_001083914.2","9,11,10,11,11,11,11,11",",,,,,,,","CTBP2,CTBP2,CTBP2,CTBP2,CTBP2,CTBP2,CTBP2,CTBP2","NM_022802.2,NM_001321014.1,NM_001321013.1,NM_001290215.2,NM_001321012.1,NM_001290214.2,NM_001329.3,NM_001083914.2","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","-,-,-,-,-,-,-,-","NP_073713.2,NP_001307943.1,NP_001307942.1,NP_001277144.1,NP_001307941.1,NP_001277143.1,NP_001320.1,NP_001077383.1","NP_073713.2,NP_001307943.1,NP_001307942.1,NP_001277144.1,NP_001307941.1,NP_001277143.1,NP_001320.1,NP_001077383.1","1488,1488,1488,1488,1488,1488,1488,1488","2495,2495,2495,2495,2495,2495,2495,2495","602619,602619,602619,602619,602619,602619,602619,602619","CCDS7644.1,CCDS7643.1,CCDS7643.1,CCDS7643.1,CCDS7643.1,CCDS7643.1,CCDS7643.1,CCDS7643.1",",,,,,,,","C-terminal-binding protein 2 isoform 2,C-terminal-binding protein 2 isoform 1,C-terminal-binding protein 2 isoform 1,C-terminal-binding protein 2 isoform 1,C-terminal-binding protein 2 isoform 1,C-terminal-binding protein 2 isoform 1,C-terminal-binding protein 2 isoform 1,C-terminal-binding protein 2 isoform 1",",,,,,,,","True","G/A","rs79384578","In 3' UTR,Is Assembly specific,Genotypes available","131","SNV",{"$nulls":36},"False"]
["10:126677366","C/T",null,"PASS","0.314286","96,44",140,99,"0/1","CTBP2","3_prime_UTR_variant","Other","NM_022802.2","NM_022802.2:c.*721G>A",null,"NM_022802.2,NM_001321014.1,NM_001321013.1,NM_001290215.2,NM_001321012.1,NM_001290214.2,NM_001329.3,NM_001083914.2","9,11,10,11,11,11,11,11",",,,,,,,","CTBP2,CTBP2,CTBP2,CTBP2,CTBP2,CTBP2,CTBP2,CTBP2","NM_022802.2,NM_001321014.1,NM_001321013.1,NM_001290215.2,NM_001321012.1,NM_001290214.2,NM_001329.3,NM_001083914.2","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","-,-,-,-,-,-,-,-","NP_073713.2,NP_001307943.1,NP_001307942.1,NP_001277144.1,NP_001307941.1,NP_001277143.1,NP_001320.1,NP_001077383.1","NP_073713.2,NP_001307943.1,NP_001307942.1,NP_001277144.1,NP_001307941.1,NP_001277143.1,NP_001320.1,NP_001077383.1","1488,1488,1488,1488,1488,1488,1488,1488","2495,2495,2495,2495,2495,2495,2495,2495","602619,602619,602619,602619,602619,602619,602619,602619","CCDS7644.1,CCDS7643.1,CCDS7643.1,CCDS7643.1,CCDS7643.1,CCDS7643.1,CCDS7643.1,CCDS7643.1",",,,,,,,","C-terminal-binding protein 2 isoform 2,C-terminal-binding protein 2 isoform 1,C-terminal-binding protein 2 isoform 1,C-terminal-binding protein 2 isoform 1,C-terminal-binding protein 2 isoform 1,C-terminal-binding protein 2 isoform 1,C-terminal-binding protein 2 isoform 1,C-terminal-binding protein 2 isoform 1",",,,,,,,","True","C/T","rs78349795","In 3' UTR,Is Assembly specific,Genotypes available","131","SNV",{"$nulls":36},"False"]
["10:126678087","C/T",null,"PASS","0.25","84,28",112,99,"0/1","CTBP2","stop_retained_variant","Other","NM_022802.2","NM_022802.2:c.2958G>A","NP_073713.2:p.Ter986=","NM_022802.2,NM_001321014.1,NM_001321013.1,NM_001290215.2,NM_001321012.1,NM_001290214.2,NM_001329.3,NM_001083914.2","9,11,10,11,11,11,11,11","99.9662,99.9253,99.9253,99.9253,99.9253,99.9253,99.9253,99.9253","CTBP2,CTBP2,CTBP2,CTBP2,CTBP2,CTBP2,CTBP2,CTBP2","NM_022802.2,NM_001321014.1,NM_001321013.1,NM_001290215.2,NM_001321012.1,NM_001290214.2,NM_001329.3,NM_001083914.2","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","-,-,-,-,-,-,-,-","NP_073713.2,NP_001307943.1,NP_001307942.1,NP_001277144.1,NP_001307941.1,NP_001277143.1,NP_001320.1,NP_001077383.1","NP_073713.2,NP_001307943.1,NP_001307942.1,NP_001277144.1,NP_001307941.1,NP_001277143.1,NP_001320.1,NP_001077383.1","1488,1488,1488,1488,1488,1488,1488,1488","2495,2495,2495,2495,2495,2495,2495,2495","602619,602619,602619,602619,602619,602619,602619,602619","CCDS7644.1,CCDS7643.1,CCDS7643.1,CCDS7643.1,CCDS7643.1,CCDS7643.1,CCDS7643.1,CCDS7643.1",",,,,,,,","C-terminal-binding protein 2 isoform 2,C-terminal-binding protein 2 isoform 1,C-terminal-binding protein 2 isoform 1,C-terminal-binding protein 2 isoform 1,C-terminal-binding protein 2 isoform 1,C-terminal-binding protein 2 isoform 1,C-terminal-binding protein 2 isoform 1,C-terminal-binding protein 2 isoform 1",",,,,,,,","True","C/T","rs78981424","Has SubmitterLinkOut,Has reference A coding region,Has synonymous A coding region,Is Assembly specific,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available","131","SNV",{"$nulls":36},"False"]
["10:129883370","A/G",null,"QUAL30","0.5","2,2",4,43,"0/1","PTPRE","3_prime_UTR_variant","Other","NM_001323355.1","NM_001323355.1:c.*2200A>G",null,"NM_001323355.1,NM_001323356.1,NM_001316676.1,NM_006504.5,NM_001316677.1,NM_001323354.1,NM_001323357.1,NM_130435.4","20,20,22,21,21,20,17,18",",,,,,,,","PTPRE,PTPRE,PTPRE,PTPRE,PTPRE,PTPRE,PTPRE,PTPRE","NM_001323355.1,NM_001323356.1,NM_001316676.1,NM_006504.5,NM_001316677.1,NM_001323354.1,NM_001323357.1,NM_130435.4","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","+,+,+,+,+,+,+,+","NP_001310284.1,NP_001310285.1,NP_001303605.1,NP_006495.1,NP_001303606.1,NP_001310283.1,NP_001310286.1,NP_569119.1","NP_001310284.1,NP_001310285.1,NP_001303605.1,NP_006495.1,NP_001303606.1,NP_001310283.1,NP_001310286.1,NP_569119.1","5791,5791,5791,5791,5791,5791,5791,5791","9669,9669,9669,9669,9669,9669,9669,9669","600926,600926,600926,600926,600926,600926,600926,600926",",,,CCDS7657.1,CCDS7657.1,CCDS7657.1,,CCDS7658.1",",,,,,,,","receptor-type tyrosine-protein phosphatase epsilon isoform 4,receptor-type tyrosine-protein phosphatase epsilon isoform 5,receptor-type tyrosine-protein phosphatase epsilon isoform 3 precursor,receptor-type tyrosine-protein phosphatase epsilon isoform 1 precursor,receptor-type tyrosine-protein phosphatase epsilon isoform 1 precursor,receptor-type tyrosine-protein phosphatase epsilon isoform 1 precursor,receptor-type tyrosine-protein phosphatase epsilon isoform 6,receptor-type tyrosine-protein phosphatase epsilon isoform 2",",,,,,,,","True","A/G","rs1129205","Has SubmitterLinkOut,In 3' UTR,In 3' gene region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","86","SNV","0.4535,0.5465","True","A/G","rs1129205",null,18195,"2737","0.546526",5008,1229,754,"457","0.658501",694,157,150,"784","0.593041",1322,334,225,"478","0.488753",978,248,115,"534","0.530815",1006,248,143,"484","0.480159",1008,242,121,"False"]
["10:135440270","G/A",null,"MQ40","0.258929","249,87",336,99,"0/1","FRG2B","5_prime_UTR_variant","Other","NM_001080998.1","NM_001080998.1:c.-24C>T",null,"NM_001080998.1","1",null,"FRG2B","NM_001080998.1","mRNA","mRNA","-","NP_001074467.1","NP_001074467.1","441581","33518",null,"CCDS44502.1",null,"protein FRG2-like-1",null,"True","G/A","rs199872228","In 5' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations","137","SNV",{"$nulls":36},"False"]
["11:433867","G/A",null,"PASS","0.492308","33,32",65,99,"0/1","ANO9","missense_variant","Missense","NM_001012302.2","NM_001012302.2:c.152C>T","NP_001012302.2:p.Ala51Val","NM_001012302.2,NM_001347882.1","3,3","6.42827,","ANO9,ANO9","NM_001012302.2,NM_001347882.1","mRNA,mRNA","mRNA,mRNA","-,-","NP_001012302.2,NP_001334811.1","NP_001012302.2,NP_001334811.1","338440,338440","20679,20679",",","CCDS31326.1,",",","anoctamin-9 isoform 1,anoctamin-9 isoform 2",",","True","G/A","rs12575508","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","120","SNV","0.8013,0.1987","True","G/A","rs12575508","EX_TARGET",12471,"995","0.198682",5008,759,118,"95","0.136888",694,65,15,"338","0.255673",1322,246,46,"177","0.180982",978,143,17,"207","0.205765",1006,171,18,"178","0.176587",1008,134,22,"False"]
["11:824789","T/C",null,"PASS","0.533333","7,8",15,99,"0/1","PNPLA2","missense_variant","Missense","NM_020376.3","NM_020376.3:c.1442T>C","NP_065109.1:p.Leu481Pro","NM_020376.3","10","95.1155","PNPLA2","NM_020376.3","mRNA","mRNA","+","NP_065109.1","NP_065109.1","57104","30802","609059","CCDS7718.1","11443","patatin-like phospholipase domain-containing protein 2",null,"True","T/C","rs1138693","Variant is Precious,Links exist to PubMed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,In Intron,In 5' gene region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","86","SNV","0.3456,0.6544","True","T/C","rs1138693","EX_TARGET",10714,"3277","0.654353",5008,1047,1115,"535","0.770893",694,117,209,"943","0.713313",1322,257,343,"484","0.494888",978,240,122,"710","0.705765",1006,206,252,"605","0.600198",1008,227,189,"False",{"$nulls":36},"T/C","261236","Benign","Benign","Benign (2)","(2 Stars) Criteria Provided, Multiple Submitters, No Conflicts","rs1138693","PNPLA2","57104","NC_000011.9:g.824789T>C","NC_000011.10:g.824789T>C","NM_020376.3:c.1442T>C","NP_065109.1:p.Leu481Pro","RCV000250452,RCV000336767","not specified,Neutral lipid storage disease with myopathy","Benign,Benign","(1 Stars) Criteria Provided, Single Submitter,(1 Stars) Criteria Provided, Single Submitter",",2016-06-14"]
["11:1016914","G/T",null,"PASS","0.285088","489,195",684,99,"0/1","MUC6","missense_variant","Missense","NM_005961.2","NM_005961.2:c.5887C>A","NP_005952.2:p.Pro1963Thr","NM_005961.2","31","80.4098","MUC6","NM_005961.2","mRNA","mRNA","-","NP_005952.2","NP_005952.2","4588","7517","158374","CCDS44513.1",null,"mucin-6 precursor",null,"True","G/T","rs74632841","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available","131","SNV",{"$nulls":36},"True","esv3625083,esv3625085","Gain,Gain","<CN2>,<CN2>","DUP_uwash,DUP_delly","EX_TARGET,IMPRECISE,EX_TARGET","16208,15899","1,3","0.000199681,0.000599042","5008,5008","1,3","0,0","0,0","0,0","694,694","0,0","0,0","0,1","0,0.00075643","1322,1322","0,1","0,0","1,1","0.00102249,0.00102249","978,978","1,1","0,0","0,1","0,0.000994036","1006,1006","0,1","0,0","0,0","0,0","1008,1008","0,0","0,0"]
["11:1017466","T/C",null,"MQRankSum-12.5","0.208","396,104",576,99,"0/1","MUC6","missense_variant","Missense","NM_005961.2","NM_005961.2:c.5335A>G","NP_005952.2:p.Arg1779Gly","NM_005961.2","31","72.8689","MUC6","NM_005961.2","mRNA","mRNA","-","NP_005952.2","NP_005952.2","4588","7517","158374","CCDS44513.1",null,"mucin-6 precursor",null,"True","T/A/C","rs201054567","Has non-synonymous missense A coding region,Has non-synonymous nonsense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations","137","SNV",{"$nulls":36},"True","esv3625083,esv3625085","Gain,Gain","<CN2>,<CN2>","DUP_uwash,DUP_delly","EX_TARGET,IMPRECISE,EX_TARGET","16208,15899","1,3","0.000199681,0.000599042","5008,5008","1,3","0,0","0,0","0,0","694,694","0,0","0,0","0,1","0,0.00075643","1322,1322","0,1","0,0","1,1","0.00102249,0.00102249","978,978","1,1","0,0","0,1","0,0.000994036","1006,1006","0,1","0,0","0,0","0,0","1008,1008","0,0","0,0"]
["11:1017844","T/C",null,"PASS","0.177291","413,89",502,99,"0/1","MUC6","missense_variant","Missense","NM_005961.2","NM_005961.2:c.4957A>G","NP_005952.2:p.Ile1653Val","NM_005961.2","31","67.7049","MUC6","NM_005961.2","mRNA","mRNA","-","NP_005952.2","NP_005952.2","4588","7517","158374","CCDS44513.1",null,"mucin-6 precursor",null,"True","T/C","rs200752571","Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,Marker on high density genotype kit (50K+)","137","SNV",{"$nulls":36},"True","esv3625083,esv3625085","Gain,Gain","<CN2>,<CN2>","DUP_uwash,DUP_delly","EX_TARGET,IMPRECISE,EX_TARGET","16208,15899","1,3","0.000199681,0.000599042","5008,5008","1,3","0,0","0,0","0,0","694,694","0,0","0,0","0,1","0,0.00075643","1322,1322","0,1","0,0","1,1","0.00102249,0.00102249","978,978","1,1","0,0","0,1","0,0.000994036","1006,1006","0,1","0,0","0,0","0,0","1008,1008","0,0","0,0"]
["11:1018366","C/T",null,"PASS","0.150794","107,19",126,99,"0/1","MUC6","missense_variant","Missense","NM_005961.2","NM_005961.2:c.4435G>A","NP_005952.2:p.Ala1479Thr","NM_005961.2","31","60.5738","MUC6","NM_005961.2","mRNA","mRNA","-","NP_005952.2","NP_005952.2","4588","7517","158374","CCDS44513.1",null,"mucin-6 precursor",null,"True","C/T","rs76741048","Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available","131","SNV",{"$nulls":36},"True","esv3625083,esv3625085","Gain,Gain","<CN2>,<CN2>","DUP_uwash,DUP_delly","EX_TARGET,IMPRECISE,EX_TARGET","16208,15899","1,3","0.000199681,0.000599042","5008,5008","1,3","0,0","0,0","0,0","694,694","0,0","0,0","0,1","0,0.00075643","1322,1322","0,1","0,0","1,1","0.00102249,0.00102249","978,978","1,1","0,0","0,1","0,0.000994036","1006,1006","0,1","0,0","0,0","0,0","1008,1008","0,0","0,0"]
["11:1267960","A/G",null,"PASS","0.401042","115,77",192,99,"0/1","MUC5B","missense_variant","Missense","NM_002458.2","NM_002458.2:c.9850A>G","NP_002449.2:p.Thr3284Ala","NM_002458.2","31","56.9669","MUC5B","NM_002458.2","mRNA","mRNA","+","NP_002449.2","NP_002449.2","727897","7516","600770","CCDS44515.2",null,"mucin-5B precursor",null,"True","A/G/T","rs2943531","RS orientation is reversed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Genotypes available","101","SNV",{"$nulls":36},"False",{"$nulls":36},"A/G","403159","Benign","Benign","Benign (1)","(1 Stars) Criteria Provided, Single Submitter","rs2943531","MUC5B","727897","NC_000011.9:g.1267960A>G","NC_000011.10:g.1246730A>G","NM_002458.2:c.9850A>G","NP_002449.2:p.Thr3284Ala","RCV000455653","not specified","Benign","(1 Stars) Criteria Provided, Single Submitter","2016-03-28"]
["11:1576863","A/G",null,"PASS","0.6","2,3",5,66,"0/1","DUSP8","3_prime_UTR_variant","Other","NM_004420.2","NM_004420.2:c.*885T>C",null,"NM_004420.2","7",null,"DUSP8","NM_004420.2","mRNA","mRNA","-","NP_004411.2","NP_004411.2","1850","3074","602038","CCDS7724.1",null,"dual specificity protein phosphatase 8",null,"True","A/G","rs12576976","Has SubmitterLinkOut,In 3' UTR,In 5' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","120","SNV","0.3918,0.6082","True","A/G","rs12576976",null,15373,"3046","0.608227",5008,1150,948,"435","0.626801",694,145,145,"761","0.575643",1322,327,217,"607","0.620654",978,225,191,"730","0.725646",1006,190,270,"513","0.508929",1008,263,125,"False"]
["11:3109403","A/G",null,"PASS","0.565574","53,69",122,99,"0/1","OSBPL5","3_prime_UTR_variant","Other","NM_020896.3","NM_020896.3:c.*32T>C",null,"NM_020896.3,NM_001144063.1,NM_145638.2","22,21,21",",,","OSBPL5,OSBPL5,OSBPL5","NM_020896.3,NM_001144063.1,NM_145638.2","mRNA,mRNA,mRNA","mRNA,mRNA,mRNA","-,-,-","NP_065947.1,NP_001137535.1,NP_663613.1","NP_065947.1,NP_001137535.1,NP_663613.1","114879,114879,114879","16392,16392,16392","606733,606733,606733","CCDS31344.1,CCDS31343.1,CCDS31343.1",",,","oxysterol-binding protein-related protein 5 isoform a,oxysterol-binding protein-related protein 5 isoform b,oxysterol-binding protein-related protein 5 isoform b",",,","True","A/G","rs2289999","RS orientation is reversed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","100","SNV","0.2412,0.7588","True","A/G","rs2289999","EX_TARGET",14882,"3800","0.758786",5008,860,1470,"493","0.710375",694,131,181,"959","0.725416",1322,257,351,"846","0.865031",978,100,373,"690","0.685885",1006,220,235,"812","0.805556",1008,152,330,"False"]
["11:5344561","G/A",null,"PASS","0.560976","36,46",82,99,"0/1","OR51B2","3_prime_UTR_variant","Other","NM_033180.4","NM_033180.4:c.*28C>T",null,"NM_033180.4","1",null,"OR51B2","NM_033180.4","mRNA","mRNA","-","NP_149420.4","NP_149420.4","79345","14703",{"$nulls":3},"olfactory receptor 51B2",null,"True","G/A","rs7933257","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","116","SNV","0.2454,0.7546","True","G/A","rs7933257",null,19763,"3779","0.754593",5008,841,1469,"531","0.76513",694,125,203,"1034","0.782148",1322,220,407,"756","0.773006",978,172,292,"913","0.907555",1006,79,417,"545","0.540675",1008,245,150,"False"]
["11:6629665","C/T",null,"PASS","0.653333","26,49",75,99,"0/1","ILK","5_prime_UTR_premature_start_codon_gain_variant","Missense","NM_004517.3","NM_004517.3:c.297C>T","NP_004508.1:p.His99=","NM_001278442.1,NM_001014794.2,NM_001278441.1,NM_004517.3,NM_001014795.2","3,4,4,4,3",",21.7807,25.1701,21.7807,21.7807","ILK,ILK,ILK,ILK,ILK","NM_001278442.1,NM_001014794.2,NM_001278441.1,NM_004517.3,NM_001014795.2","mRNA,mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA,mRNA","+,+,+,+,+","NP_001265371.1,NP_001014794.1,NP_001265370.1,NP_004508.1,NP_001014795.1","NP_001265371.1,NP_001014794.1,NP_001265370.1,NP_004508.1,NP_001014795.1","3611,3611,3611,3611,3611","6040,6040,6040,6040,6040","602366,602366,602366,602366,602366","CCDS60713.1,CCDS7768.1,CCDS60712.1,CCDS7768.1,CCDS7768.1","03842,03842,03842,03842,03842","integrin-linked protein kinase isoform 3,integrin-linked protein kinase isoform 1,integrin-linked protein kinase isoform 2,integrin-linked protein kinase isoform 1,integrin-linked protein kinase isoform 1",",,,,","True","C/T","rs1043388","Variant is Precious,Has SubmitterLinkOut,Has reference A coding region,Has synonymous A coding region,In 5' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3,Submitted from a locus-specific database","86","SNV","0.6853,0.3147","True","C/T","rs1043388","EX_TARGET",24191,"1576","0.314696",5008,1034,271,"181","0.260807",694,131,25,"549","0.41528",1322,317,116,"237","0.242331",978,171,33,"255","0.253479",1006,189,33,"354","0.35119",1008,226,64,"False",{"$nulls":36},"C/T","137588","Benign","Benign","Benign (3)","(2 Stars) Criteria Provided, Multiple Submitters, No Conflicts","rs1043388","ILK","3611","NC_000011.9:g.6629665C>T","NC_000011.10:g.6608435C>T","NM_004517.3:c.297C>T","NP_004508.1:p.His99=","RCV000125415,RCV000620958","not specified,Cardiovascular phenotype","Benign,Benign","(2 Stars) Criteria Provided, Multiple Submitters, No Conflicts,(1 Stars) Criteria Provided, Single Submitter","2015-02-20,2012-07-11"]
["11:7817538","T/C",null,"PASS","0.416185","101,72",173,99,"0/1","OR5P2","missense_variant","Missense","NM_153444.1","NM_153444.1:c.952A>G","NP_703145.1:p.Asn318Asp","NM_153444.1","1","98.1424","OR5P2","NM_153444.1","mRNA","mRNA","-","NP_703145.1","NP_703145.1","120065","14783",null,"CCDS7782.1","17769","olfactory receptor 5P2",null,"True","T/C","rs7949771","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","116","SNV","0.7634,0.2366","True","T/C","rs7949771","EX_TARGET",18403,"1185","0.236621",5008,679,253,"202","0.291066",694,126,38,"459","0.347201",1322,187,136,"117","0.119632",978,87,15,"278","0.276342",1006,190,44,"129","0.127976",1008,89,20,"True","esv3625301;esv3625302,esv3625301;esv3625302","Loss,Gain","<CN0>,<CN2>","DUP_gs,DUP_gs","EX_TARGET,EX_TARGET","19046,19046","606,3","0.121006,0.000599042","5008,5008","494,1","56,1","37,2","0.0533141,0.00288184","694,694","35,0","1,1","336,0","0.25416,0","1322,1322","248,0","44,0","87,0","0.0889571,0","978,978","73,0","7,0","34,0","0.0337972,0","1006,1006","34,0","0,0","112,1","0.111111,0.000992064","1008,1008","104,1","4,0"]
["11:8948615","G/A",null,"PASS","0.591549","29,42",71,99,"0/1","C11orf16","missense_variant","Missense","NM_020643.2","NM_020643.2:c.431C>T","NP_065694.2:p.Pro144Leu","NM_020643.2","4","30.6268","C11orf16","NM_020643.2","mRNA","mRNA","-","NP_065694.2","NP_065694.2","56673","1169",null,"CCDS7794.1",null,"uncharacterized protein C11orf16",null,"True","G/A/C","rs2568076","RS orientation is reversed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","100","SNV","0.9543,0.04573,","True","G/A","rs2568076","EX_TARGET",19999,"229","0.0457268",5008,203,13,"5","0.00720461",694,5,0,"125","0.0945537",1322,111,7,"30","0.0306748",978,28,1,"1","0.000994036",1006,1,0,"68","0.0674603",1008,58,5,"False"]
["11:12965677","G/A",null,"PASS","0.523077","62,68",130,99,"0/1","TEAD1","3_prime_UTR_variant","Other","NM_021961.5","NM_021961.5:c.*6908G>A","NP_068780.2:p.?","NM_021961.5","13",null,"TEAD1","NM_021961.5","mRNA","mRNA","+","NP_068780.2","NP_068780.2","7003","11714","189967","CCDS7810.2",null,"transcriptional enhancer factor TEF-1",null,"True","G/A","rs189027582","In 3' UTR,Is Assembly specific,Is Validated,1000 Genome phase 1,1000 Genome phase 3","135","SNV","0.9964,0.003594","True","G/A","rs189027582",null,14745,"18","0.00359425",5008,18,0,"0","0",694,0,0,"18","0.0136157",1322,18,0,"0","0",978,0,0,"0","0",1006,0,0,"0","0",1008,0,0,"True","esv3625395,esv3625402","Gain,Gain","<CN2>,<CN2>","DUP_delly,DUP_gs","IMPRECISE,EX_TARGET,EX_TARGET","18214,18844","1,1","0.000199681,0.000199681","5008,5008","1,1","0,0","0,0","0,0","694,694","0,0","0,0","0,0","0,0","1322,1322","0,0","0,0","1,1","0.00102249,0.00102249","978,978","1,1","0,0","0,0","0,0","1006,1006","0,0","0,0","0,0","0,0","1008,1008","0,0","0,0"]
["11:17655678","G/A",null,"PASS","0.529412","40,45",85,99,"0/1","OTOG","missense_variant","Missense","NM_001277269.1","NM_001277269.1:c.7366G>A","NP_001264198.1:p.Gly2456Ser","NM_001292063.1,NM_001277269.1","44,43","83.8367,83.9029","OTOG,OTOG","NM_001292063.1,NM_001277269.1","mRNA,mRNA","mRNA,mRNA","+,+","NP_001278992.1,NP_001264198.1","NP_001278992.1,NP_001264198.1","340990,340990","8516,8516","604487,604487","CCDS59225.2,CCDS76390.1",",","otogelin isoform b precursor,otogelin isoform a precursor",",","True","G/A","rs61745322","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","129","SNV","0.9844,0.01558","True","G/A","rs61745322",null,17604,"78","0.0155751",5008,76,1,"4","0.00576369",694,4,0,"74","0.0559758",1322,72,1,"0","0",978,0,0,"0","0",1006,0,0,"0","0",1008,0,0,"False",{"$nulls":36},"G/A","226907","Benign","Benign","Benign (3)","(2 Stars) Criteria Provided, Multiple Submitters, No Conflicts","rs61745322","OTOG","340990","NC_000011.9:g.17655678G>A","NC_000011.10:g.17634131G>A","NM_001277269.1:c.7366G>A","NP_001264198.1:p.Gly2456Ser","RCV000222989,RCV000712487","not specified,not provided","Benign,Benign","(2 Stars) Criteria Provided, Multiple Submitters, No Conflicts,(1 Stars) Criteria Provided, Single Submitter","2017-10-05,2018-05-23"]
["11:24518530","C/T",null,"PASS","0.8","1,4",5,26,"0/1","LUZP2","5_prime_UTR_variant","Other","NM_001009909.3","NM_001009909.3:c.-260C>T",null,"NM_001252008.1,NM_001252010.1,NM_001009909.3","1,1,1",",,","LUZP2,LUZP2,LUZP2","NM_001252008.1,NM_001252010.1,NM_001009909.3","mRNA,mRNA,mRNA","mRNA,mRNA,mRNA","+,+,+","NP_001238937.1,NP_001238939.1,NP_001009909.2","NP_001238937.1,NP_001238939.1,NP_001009909.2","338645,338645,338645","23206,23206,23206","608178,608178,608178","CCDS58128.1,,CCDS31446.1",",,","leucine zipper protein 2 isoform 2,leucine zipper protein 2 isoform 3,leucine zipper protein 2 isoform 1 precursor",",,","True","C/T","rs148609602","Has SubmitterLinkOut,In 5' UTR,In 5' gene region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,1000 Genome phase 1,1000 Genome phase 3","134","SNV","0.9405,0.0595","True","C/T","rs148609602",null,10752,"298","0.0595048",5008,264,17,"25","0.0360231",694,21,2,"94","0.0711044",1322,84,5,"39","0.0398773",978,35,2,"52","0.0516899",1006,48,2,"88","0.0873016",1008,76,6,"False"]
["11:34168225","G/A",null,"PASS","0.333333","4,2",6,72,"0/1","NAT10","3_prime_UTR_variant","Other","NM_024662.2","NM_024662.2:c.*486G>A",null,"NM_001144030.1,NM_024662.2","27,29",",","NAT10,NAT10","NM_001144030.1,NM_024662.2","mRNA,mRNA","mRNA,mRNA","+,+","NP_001137502.1,NP_078938.2","NP_001137502.1,NP_078938.2","55226,55226","29830,29830","609221,609221","CCDS44568.1,CCDS7889.1",",","RNA cytidine acetyltransferase isoform b,RNA cytidine acetyltransferase isoform a",",","True","G/A","rs796197937","In 3' UTR,Is Assembly specific","146","SNV",{"$nulls":36},"False"]
["11:45903613","A/C",null,"PASS","0.317073","28,13",41,99,"0/1","CRY2","3_prime_UTR_variant","Other","NM_021117.3","NM_021117.3:c.*1151A>C",null,"NM_001127457.2,NM_021117.3","12,12",",","CRY2,CRY2","NM_001127457.2,NM_021117.3","mRNA,mRNA","mRNA,mRNA","+,+","NP_001120929.1,NP_066940.2","NP_001120929.1,NP_066940.2","1408,1408","2385,2385","603732,603732","CCDS44576.1,CCDS7915.2",",","cryptochrome-2 isoform 2,cryptochrome-2 isoform 1",",","True","A/C","rs2292910","Variant is Precious,Links exist to PubMed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","100","SNV","0.4159,0.5841","True","A/C","rs2292910",null,20575,"2925","0.584065",5008,1075,925,"506","0.729107",694,134,186,"833","0.630106",1322,299,267,"564","0.576687",978,206,179,"685","0.680915",1006,205,240,"337","0.334325",1008,231,53,"False"]
["11:48346551","C/A",null,"PASS","0.325758","267,129",396,99,"0/1","OR4C3","missense_variant","Missense","NM_001004702.1","NM_001004702.1:c.59C>A","NP_001004702.1:p.Ala20Glu","NM_001004702.1","1","5.85859","OR4C3","NM_001004702.1","mRNA","mRNA","+","NP_001004702.1","NP_001004702.1","256144","14697",null,"CCDS31489.1","17722","olfactory receptor 4C3 precursor",null,"True","C/A","rs77470587","Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Genotypes available","131","SNV",{"$nulls":36},"True","esv3626228;esv3626229,esv3626228;esv3626229","Gain,Gain","<CN2>,<CN3>","DUP_uwash,DUP_uwash","EX_TARGET,EX_TARGET","20627,20627","2,2","0.000399361,0.000399361","5008,5008","2,2","0,0","0,0","0,0","694,694","0,0","0,0","2,1","0.00151286,0.00075643","1322,1322","2,1","0,0","0,0","0,0","978,978","0,0","0,0","0,0","0,0","1006,1006","0,0","0,0","0,1","0,0.000992064","1008,1008","0,1","0,0"]
["11:48346588","A/C",null,"PASS","0.341772","260,135",395,99,"0/1","OR4C3","missense_variant","Missense","NM_001004702.1","NM_001004702.1:c.96A>C","NP_001004702.1:p.Gln32His","NM_001004702.1","1","9.59596","OR4C3","NM_001004702.1","mRNA","mRNA","+","NP_001004702.1","NP_001004702.1","256144","14697",null,"CCDS31489.1","17722","olfactory receptor 4C3 precursor",null,"True","A/C","rs75900655","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available","131","SNV",{"$nulls":36},"True","esv3626228;esv3626229,esv3626228;esv3626229","Gain,Gain","<CN2>,<CN3>","DUP_uwash,DUP_uwash","EX_TARGET,EX_TARGET","20627,20627","2,2","0.000399361,0.000399361","5008,5008","2,2","0,0","0,0","0,0","694,694","0,0","0,0","2,1","0.00151286,0.00075643","1322,1322","2,1","0,0","0,0","0,0","978,978","0,0","0,0","0,0","0,0","1006,1006","0,0","0,0","0,1","0,0.000992064","1008,1008","0,1","0,0"]
["11:55656483","T/A",null,"PASS","0.558824","45,57",102,99,"0/1","TRIM51","splice_region_variant","Other","NM_032681.3","NM_032681.3:c.761+6T>A",null,"NM_032681.3","5",null,"TRIM51","NM_032681.3","mRNA","mRNA","+","NP_116070.2","NP_116070.2","84767","19023",{"$nulls":3},"tripartite motif-containing protein 51",null,"True","T/A","rs7483200","Has SubmitterLinkOut,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","116","SNV","0.1703,0.8297","True","T/A","rs7483200","EX_TARGET",5820,"4155","0.829673",5008,669,1743,"630","0.907781",694,50,290,"923","0.698185",1322,283,320,"866","0.885481",978,98,384,"820","0.815109",1006,156,332,"916","0.90873",1008,82,417,"True","esv3626458","Gain","<CN2>","DUP_gs","EX_TARGET","14565","5","0.000998403","5008","3","1","0","0","694","0","0","1","0.00075643","1322","1","0","0","0","978","0","0","3","0.00298211","1006","1","1","1","0.000992064","1008","1","0"]
["11:56143544","T/C",null,"PASS","0.453947","83,69",152,99,"0/1","OR8U1","missense_variant","Missense","NM_001005204.1","NM_001005204.1:c.445T>C","NP_001005204.1:p.Tyr149His","NM_001005204.1","1","47.7419","OR8U1","NM_001005204.1","mRNA","mRNA","+","NP_001005204.1","NP_001005204.1","219417","19611",null,"CCDS41647.1","17796","olfactory receptor 8U1",null,"True","T/C","rs78532946","Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,Marker on high density genotype kit (50K+),Genotypes available","131","SNV",{"$nulls":36},"False"]
["11:56431216","C/T",null,"PASS","0.47541","32,29",61,99,"0/1","OR5AR1","stop_gained","LoF","NM_001004730.1","NM_001004730.1:c.55C>T","NP_001004730.1:p.Gln19Ter","NM_001004730.1","1","5.78778","OR5AR1","NM_001004730.1","mRNA","mRNA","+","NP_001004730.1","NP_001004730.1","219493","15260",null,null,"17750","olfactory receptor 5AR1",null,"True","C/T","rs11228710","Has SubmitterLinkOut,Has non-synonymous nonsense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","120","SNV","0.377,0.623","True","C/T","rs11228710","EX_TARGET",16067,"3120","0.623003",5008,956,1082,"514","0.740634",694,128,193,"359","0.271558",1322,273,43,"763","0.780164",978,163,300,"692","0.687873",1006,232,230,"792","0.785714",1008,160,316,"False"]
["11:57089261","G/A",null,"PASS","0.587719","47,67",114,99,"0/1","TNKS1BP1","splice_region_variant","Other","NM_033396.2","NM_033396.2:c.94+5C>T",null,"NM_033396.2","2",null,"TNKS1BP1","NM_033396.2","mRNA","mRNA","-","NP_203754.2","NP_203754.2","85456","19081","607104","CCDS7951.1",null,"182 kDa tankyrase-1-binding protein",null,"True","G/A","rs17151841","Has SubmitterLinkOut,In Intron,Is Assembly specific,Is Validated,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","123","SNV","0.9814,0.01857","True","G/A","rs17151841","EX_TARGET",14745,"93","0.0185703",5008,89,2,"26","0.037464",694,26,0,"3","0.00226929",1322,3,0,"25","0.0255624",978,23,1,"38","0.0377734",1006,36,1,"1","0.000992064",1008,1,0,"False"]
["11:58207203","C/T",null,"PASS","0.638889","52,92",144,99,"0/1","OR5B12","missense_variant","Missense","NM_001004733.2","NM_001004733.2:c.422G>A","NP_001004733.1:p.Cys141Tyr","NM_001004733.2","1","44.5503","OR5B12","NM_001004733.2","mRNA","mRNA","-","NP_001004733.1","NP_001004733.1","390191","15432",null,"CCDS31551.1","15035","olfactory receptor 5B12",null,"True","C/G/T","rs11229457","Has 3D structure,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","120","SNV","0.7766,,0.2234","True","C/T","rs11229457","EX_TARGET",20166,"1119","0.223442",5008,855,132,"141","0.20317",694,115,13,"358","0.270802",1322,256,51,"264","0.269939",978,192,36,"211","0.209742",1006,163,24,"145","0.143849",1008,129,8,"False"]
["11:59570181","G/A",null,"PASS","0.423077","15,11",26,99,"0/1","STX3","3_prime_UTR_variant","Other","NM_004177.4","NM_004177.4:c.*1884G>A",null,"NM_001178040.1,NM_004177.4","10,11",",","STX3,STX3","NM_001178040.1,NM_004177.4","mRNA,mRNA","mRNA,mRNA","+,+","NP_001171511.1,NP_004168.1","NP_001171511.1,NP_004168.1","6809,6809","11438,11438","600876,600876","CCDS53637.1,CCDS7975.1","15985,15985","syntaxin-3 isoform 2,syntaxin-3 isoform 1",",","True","G/A","rs114965596","Has SubmitterLinkOut,In 3' UTR,In Intron,In 3' gene region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,1000 Genome phase 1,1000 Genome phase 3","132","SNV","0.9623,0.03774","True","G/A","rs114965596",null,21202,"189","0.0377396",5008,173,8,"11","0.0158501",694,11,0,"87","0.0658094",1322,77,5,"17","0.0173824",978,15,1,"46","0.0457256",1006,46,0,"28","0.0277778",1008,24,2,"False"]
["11:61675714","T/C",null,"PASS","0.415094","31,22",53,99,"0/1","RAB3IL1","missense_variant","Missense","NM_013401.3","NM_013401.3:c.76A>G","NP_037533.2:p.Thr26Ala","NM_013401.3,NM_001271686.1","2,2","6.52741,20.1681","RAB3IL1,RAB3IL1","NM_013401.3,NM_001271686.1","mRNA,mRNA","mRNA,mRNA","-,-","NP_037533.2,NP_001258615.1","NP_037533.2,NP_001258615.1","5866,5866","9780,9780",",","CCDS8014.1,CCDS60809.1","10181,10181","guanine nucleotide exchange factor for Rab-3A isoform 1,guanine nucleotide exchange factor for Rab-3A isoform 2",",","True","T/C","rs34281659","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","126","SNV","0.9675,0.03255","True","T/C","rs34281659","EX_TARGET",14891,"163","0.0325479",5008,157,3,"9","0.0129683",694,9,0,"28","0.02118",1322,28,0,"59","0.0603272",978,57,1,"67","0.0666004",1006,63,2,"0","0",1008,0,0,"False"]
["11:63723238","A/G",null,"PASS","0.470588","9,8",17,99,"0/1","NAA40","3_prime_UTR_variant","Other","NM_024771.3","NM_024771.3:c.*1287A>G",null,"NM_024771.3,NM_001300800.1","8,8",",","NAA40,NAA40","NM_024771.3,NM_001300800.1","mRNA,mRNA","mRNA,mRNA","+,+","NP_079047.2,NP_001287729.1","NP_079047.2,NP_001287729.1","79829,79829","25845,25845",",","CCDS8053.1,CCDS73311.1",",","N-alpha-acetyltransferase 40 isoform 1,N-alpha-acetyltransferase 40 isoform 2",",","True","A/G","rs10897466","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","120","SNV","0.7286,0.2714","True","A/G","rs10897466",null,21091,"1359","0.271366",5008,923,218,"140","0.201729",694,106,17,"323","0.244327",1322,245,39,"356","0.364008",978,232,62,"443","0.440358",1006,253,95,"97","0.0962302",1008,87,5,"False"]
["11:66083129","T/C",null,"PASS","0.463918","52,45",97,99,"0/1","CD248","missense_variant","Missense","NM_020404.2","NM_020404.2:c.1370A>G","NP_065137.1:p.His457Arg","NM_020404.2","1","60.2023","CD248","NM_020404.2","mRNA","mRNA","-","NP_065137.1","NP_065137.1","57124","18219","606064","CCDS8134.1","06933","endosialin precursor",null,"True","T/C","rs3741367","Variant is Precious,Links exist to PubMed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","107","SNV","0.7079,0.2921","True","T/C","rs3741367","EX_TARGET",16132,"1463","0.292133",5008,911,276,"380","0.54755",694,166,107,"229","0.173222",1322,193,18,"197","0.201431",978,147,25,"446","0.44334",1006,242,102,"211","0.209325",1008,163,24,"False"]
["11:68458470","T/C",null,"PASS","0.552941","38,47",85,99,"0/1","GAL","3_prime_UTR_variant","Other","NM_015973.4","NM_015973.4:c.*15T>C",null,"NM_015973.4","6",null,"GAL","NM_015973.4","mRNA","mRNA","+","NP_057057.2","NP_057057.2","51083","4114","137035","CCDS8183.1","00658","galanin peptides preproprotein",null,"True","T/C","rs1042577","RS orientation is reversed,Variant is Precious,Links exist to PubMed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3,Microattribution/third-party annotation(TPA:GWAS,PAGE)","86","SNV","0.373,0.627","True","T/C","rs1042577","EX_TARGET",17437,"3140","0.626997",5008,1030,1055,"467","0.672911",694,149,159,"521","0.3941",1322,305,108,"656","0.670757",978,198,229,"703","0.698807",1006,219,242,"793","0.786706",1008,159,317,"False"]
["11:71259502","C/T",null,"PASS","0.375","40,24",64,99,"0/1","KRTAP5-9","5_prime_UTR_variant","Other","NM_005553.3","NM_005553.3:c.-202C>T",null,"NM_005553.3","1",null,"KRTAP5-9","NM_005553.3","mRNA","mRNA","+","NP_005544.4","NP_005544.4","3846","23604","148021","CCDS53677.1",null,"keratin-associated protein 5-9",null,"True","C/T","rs760420","Has SubmitterLinkOut,In 5' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","86","SNV","0.8666,0.1334","True","C/T","rs760420",null,20265,"668","0.133387",5008,556,56,"86","0.123919",694,78,4,"308","0.23298",1322,236,36,"61","0.0623722",978,55,3,"119","0.11829",1006,107,6,"94","0.093254",1008,80,7,"True","esv3626781,esv3626782","Gain,Gain","<CN2>,<CN2>","DUP_delly,DUP_gs","IMPRECISE,EX_TARGET,EX_TARGET","19271,12836","1,1","0.000199681,0.000199681","5008,5008","1,1","0,0","0,0","0,0","694,694","0,0","0,0","0,0","0,0","1322,1322","0,0","0,0","0,0","0,0","978,978","0,0","0,0","0,0","0,0","1006,1006","0,0","0,0","1,1","0.000992064,0.000992064","1008,1008","1,1","0,0"]
["11:74042241","A/G",null,"PASS","0.5","3,3",6,92,"0/1","PGM2L1","3_prime_UTR_variant","Other","NM_173582.4","NM_173582.4:c.*5456T>C",null,"NM_173582.4","14",null,"PGM2L1","NM_173582.4","mRNA","mRNA","-","NP_775853.2","NP_775853.2","283209","20898","611610","CCDS8231.1","11427","glucose 1,6-bisphosphate synthase",null,"True","A/G","rs655719","RS orientation is reversed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","83","SNV","0.2598,0.7402","True","A/G","rs655719",null,17078,"3707","0.740216",5008,959,1374,"496","0.714697",694,138,179,"1010","0.763994",1322,250,380,"713","0.729039",978,185,264,"686","0.681909",1006,222,232,"802","0.795635",1008,164,319,"True","esv3626833,esv3626834,esv3626839","Gain,Gain,Gain","<CN2>,<CN2>,<CN2>","DUP_uwash,DUP_delly,DUP_gs","EX_TARGET,IMPRECISE,EX_TARGET,EX_TARGET","16061,19994,17485","1,6,1","0.000199681,0.00119808,0.000199681","5008,5008,5008","1,6,1","0,0,0","0,0,0","0,0,0","694,694,694","0,0,0","0,0,0","0,2,0","0,0.00151286,0","1322,1322,1322","0,2,0","0,0,0","0,0,0","0,0,0","978,978,978","0,0,0","0,0,0","0,2,0","0,0.00198807,0","1006,1006,1006","0,2,0","0,0,0","1,2,1","0.000992064,0.00198413,0.000992064","1008,1008,1008","1,2,1","0,0,0"]
["11:76919478","C/A",null,"PASS","0.30303","69,30",99,99,"0/1","MYO7A","missense_variant","Missense","NM_000260.3","NM_000260.3:c.5860C>A","NP_000251.3:p.Leu1954Ile","NM_000260.3,NM_001127180.1","43,43","88.1318,88.0055","MYO7A,MYO7A","NM_000260.3,NM_001127180.1","mRNA,mRNA","mRNA,mRNA","+,+","NP_000251.3,NP_001120652.1","NP_000251.3,NP_001120652.1","4647,4647","7606,7606","276903,276903","CCDS53683.1,CCDS53684.1",",","unconventional myosin-VIIa isoform 1,unconventional myosin-VIIa isoform 2",",","True","C/A/G","rs948962","RS orientation is reversed,Variant is Precious,Links exist to PubMed,Has 3D structure,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","86","SNV","0.501,0.499,","True","C/A","rs948962","EX_TARGET",22715,"2499","0.499002",5008,1065,717,"381","0.548991",694,181,100,"1001","0.757186",1322,233,384,"277","0.283231",978,195,41,"503","0.5",1006,239,132,"337","0.334325",1008,217,60,"False",{"$nulls":36},"C/A","43304","Benign","Benign","Benign (6)","(2 Stars) Criteria Provided, Multiple Submitters, No Conflicts","rs948962","MYO7A","4647","NC_000011.9:g.76919478C>A","NC_000011.10:g.77208433C>A","NM_000260.3:c.5860C>A","NP_000251.3:p.Leu1954Ile","RCV000036209,RCV000274378,RCV000309473,RCV000366542","not specified,Nonsyndromic Hearing Loss, Recessive,Nonsyndromic Hearing Loss, Dominant,Retinitis pigmentosa-deafness syndrome","Benign,Benign,Benign,Benign","(2 Stars) Criteria Provided, Multiple Submitters, No Conflicts,(1 Stars) Criteria Provided, Single Submitter,(1 Stars) Criteria Provided, Single Submitter,(1 Stars) Criteria Provided, Single Submitter","2014-11-19,2016-06-14,2016-06-14,2016-06-14"]
["11:85347415","G/A",null,"PASS","0.315789","39,18",57,99,"0/1","TMEM126B","3_prime_UTR_variant","Other","NM_018480.4","NM_018480.4:c.*142G>A",null,"NM_018480.4,NM_001256547.1,NM_001256546.1,NM_001193538.2,NM_001193537.2","5,4,6,6,6",",,,,","TMEM126B,TMEM126B,TMEM126B,TMEM126B,TMEM126B","NM_018480.4,NM_001256547.1,NM_001256546.1,NM_001193538.2,NM_001193537.2","mRNA,mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA,mRNA","+,+,+,+,+","NP_060950.3,NP_001243476.1,NP_001243475.1,NP_001180467.1,NP_001180466.1","NP_060950.3,NP_001243476.1,NP_001243475.1,NP_001180467.1,NP_001180466.1","55863,55863,55863,55863,55863","30883,30883,30883,30883,30883","615533,615533,615533,615533,615533","CCDS8267.2,,CCDS53686.1,CCDS53686.1,",",,,,","complex I assembly factor TMEM126B, mitochondrial isoform a,complex I assembly factor TMEM126B, mitochondrial isoform d,complex I assembly factor TMEM126B, mitochondrial isoform c,complex I assembly factor TMEM126B, mitochondrial isoform c,complex I assembly factor TMEM126B, mitochondrial isoform b",",,,,","True","G/A","rs1046216","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","86","SNV","0.6316,0.3684","True","G/A","rs1046216",null,18915,"1845","0.368411",5008,1135,355,"273","0.393372",694,149,62,"570","0.431165",1322,340,115,"408","0.417178",978,232,88,"208","0.206759",1006,174,17,"386","0.382937",1008,240,73,"False"]
["11:89939448","G/A",null,"PASS","0.630435","17,29",46,99,"0/1","CHORDC1","splice_region_variant","Other","NM_012124.2","NM_012124.2:c.493-8C>T",null,"NM_001144073.1,NM_012124.2","6,7",",","CHORDC1,CHORDC1","NM_001144073.1,NM_012124.2","mRNA,mRNA","mRNA,mRNA","-,-","NP_001137545.1,NP_036256.2","NP_001137545.1,NP_036256.2","26973,26973","14525,14525","604353,604353","CCDS44705.1,CCDS8289.1",",","cysteine and histidine-rich domain-containing protein 1 isoform b,cysteine and histidine-rich domain-containing protein 1 isoform a",",","True","G/A","rs1943381","RS orientation is reversed,Has SubmitterLinkOut,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","92","SNV","0.4014,0.5986","True","G/A","rs1943381","EX_TARGET",17486,"2998","0.598642",5008,1040,979,"452","0.651297",694,148,152,"434","0.32829",1322,274,80,"731","0.747444",978,187,272,"700","0.695825",1006,216,242,"681","0.675595",1008,215,233,"False"]
["11:94802776","G/C",null,"PASS","0.604938","32,49",81,99,"0/1","SRSF8","3_prime_UTR_variant","Other","NM_032102.3","NM_032102.3:c.*1538G>C",null,"NM_032102.3","2",null,"SRSF8","NM_032102.3","mRNA","mRNA","+","NP_115285.1","NP_115285.1","10929","16988","603269","CCDS73370.1","04466","serine/arginine-rich splicing factor 8",null,"True","G/C","rs681695","RS orientation is reversed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","83","SNV","0.531,0.469","True","G/C","rs681695",null,18219,"2349","0.46905",5008,1191,579,"348","0.501441",694,164,92,"624","0.472012",1322,334,145,"489","0.5",978,241,124,"608","0.604374",1006,238,185,"280","0.277778",1008,214,33,"False"]
["11:102195124","A/G",null,"PASS","0.554839","69,86",155,99,"0/1","BIRC3","5_prime_UTR_premature_start_codon_gain_variant","Missense","NM_001165.4","NM_001165.4:c.-117A>G","NP_001156.1:p.Met1ext-39","NM_001165.4,NM_182962.2","2,3",",","BIRC3,BIRC3","NM_001165.4,NM_182962.2","mRNA,mRNA","mRNA,mRNA","+,+","NP_001156.1,NP_892007.1","NP_001156.1,NP_892007.1","330,330","591,591","601721,601721","CCDS8315.1,CCDS8315.1","03426,03426","baculoviral IAP repeat-containing protein 3,baculoviral IAP repeat-containing protein 3",",","True","A/G","rs17882391","Has SubmitterLinkOut,In 5' UTR,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","124","SNV","0.9768,0.02316","True","A/G","rs17882391",null,17000,"116","0.0231629",5008,114,1,"22","0.0317003",694,20,1,"3","0.00226929",1322,3,0,"25","0.0255624",978,25,0,"65","0.0646123",1006,65,0,"1","0.000992064",1008,1,0,"False"]
["11:104971233","C/T",null,"PASS","0.585034","61,86",147,99,"0/1","CARD17","splice_region_variant","Other","NM_001007232.1","NM_001007232.1:c.274+7G>A",null,"NM_001007232.1","2",null,"CARD17","NM_001007232.1","mRNA","mRNA","-","NP_001007233.1","NP_001007233.1","440068","33827","609490","CCDS31662.1","17149","caspase recruitment domain-containing protein 17",null,"True","C/T","rs34491690","Has SubmitterLinkOut,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","126","SNV","0.9285,0.07149","True","C/T","rs34491690","EX_TARGET",20744,"358","0.0714856",5008,292,33,"87","0.12536",694,77,5,"6","0.00453858",1322,6,0,"71","0.0725971",978,63,4,"194","0.192843",1006,146,24,"0","0",1008,0,0,"True","esv3627604;esv3627605,esv3627604;esv3627605,esv3627607","Loss,Gain,Loss","<CN0>,<CN2>,<CN0>","DUP_gs,DUP_gs,DEL_union","EX_TARGET,EX_TARGET,EX_TARGET","10473,10473,19686","2,10,1","0.000399361,0.00199681,0.000199681","5008,5008,5008","2,10,1","0,0,0","1,0,0","0.00144092,0,0","694,694,694","1,0,0","0,0,0","0,10,1","0,0.0075643,0.00075643","1322,1322,1322","0,10,1","0,0,0","0,0,0","0,0,0","978,978,978","0,0,0","0,0,0","0,0,0","0,0,0","1006,1006,1006","0,0,0","0,0,0","1,0,0","0.000992064,0,0","1008,1008,1008","1,0,0","0,0,0"]
["11:113268059","G/A",null,"PASS","0.660377","18,35",53,99,"0/1","ANKK1","missense_variant","Missense","NM_178510.1","NM_178510.1:c.952G>A","NP_848605.1:p.Gly318Arg","NM_178510.1","6","41.3838","ANKK1","NM_178510.1","mRNA","mRNA","+","NP_848605.1","NP_848605.1","255239","21027","608774","CCDS44734.1","10580","ankyrin repeat and protein kinase domain-containing protein 1",null,"True","G/A","rs11604671","Variant is Precious,Links exist to PubMed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","120","SNV","0.7738,0.2262","True","G/A","rs11604671","EX_TARGET",19688,"1133","0.226238",5008,677,228,"210","0.302594",694,132,39,"52","0.0393343",1322,42,5,"304","0.310838",978,186,59,"504","0.500994",1006,254,125,"63","0.0625",1008,63,0,"False"]
["12:1022352","A/G",null,"PASS","0.59375","13,19",32,99,"0/1","RAD52","3_prime_UTR_variant","Other","NM_134424.3","NM_134424.3:c.*205T>C",null,"NM_001297421.1,NM_134424.3,NM_001297419.1","10,12,12",",,","RAD52,RAD52,RAD52","NM_001297421.1,NM_134424.3,NM_001297419.1","mRNA,mRNA,mRNA","mRNA,mRNA,mRNA","-,-,-","NP_001284350.1,NP_602296.2,NP_001284348.1","NP_001284350.1,NP_602296.2,NP_001284348.1","5893,5893,5893","9824,9824,9824","600392,600392,600392",",CCDS8507.2,CCDS8507.2",",,","DNA repair protein RAD52 homolog isoform c,DNA repair protein RAD52 homolog isoform a,DNA repair protein RAD52 homolog isoform a",",,","True","A/G","rs11571475","RS orientation is reversed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","120","SNV","0.8918,0.1082","True","A/G","rs11571475",null,20952,"542","0.108227",5008,470,36,"53","0.0763689",694,45,4,"85","0.0642965",1322,83,1,"161","0.164622",978,127,17,"133","0.132207",1006,115,9,"110","0.109127",1008,100,5,"True","esv3628261","Gain","<CN2>","DUP_gs","EX_TARGET","20946","1","0.000199681","5008","1","0","0","0","694","0","0","0","0","1322","0","0","0","0","978","0","0","0","0","1006","0","0","1","0.000992064","1008","1","0"]
["12:4881766","C/T",null,"PASS","0.383178","66,41",107,99,"0/1","GALNT8","3_prime_UTR_variant","Other","NM_017417.1","NM_017417.1:c.*3C>T",null,"NM_017417.1","11",null,"GALNT8","NM_017417.1","mRNA","mRNA","+","NP_059113.1","NP_059113.1","26290","4130","606250","CCDS8533.1","09374","probable polypeptide N-acetylgalactosaminyltransferase 8",null,"True","C/T","rs2286581","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","100","SNV","0.5719,0.4281","True","C/T","rs2286581","EX_TARGET",21961,"2144","0.428115",5008,1162,491,"364","0.524496",694,158,103,"515","0.389561",1322,317,99,"282","0.288344",978,206,38,"625","0.621272",1006,243,191,"358","0.355159",1008,238,60,"False"]
["12:6573146","T/C",null,"PASS","0.5","4,4",8,99,"0/1","VAMP1","3_prime_UTR_variant","Other","NM_014231.4","NM_014231.4:c.*490A>G",null,"NM_014231.4,NM_001297438.1,NM_016830.3,NM_199245.2","5,4,4,4",",,,","VAMP1,VAMP1,VAMP1,VAMP1","NM_014231.4,NM_001297438.1,NM_016830.3,NM_199245.2","mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA","-,-,-,-","NP_055046.1,NP_001284367.1,NP_058439.1,NP_954740.1","NP_055046.1,NP_001284367.1,NP_058439.1,NP_954740.1","6843,6843,6843,6843","12642,12642,12642,12642","185880,185880,185880,185880","CCDS41740.1,CCDS73422.1,CCDS44809.1,CCDS31731.1","01716,01716,01716,01716","vesicle-associated membrane protein 1 isoform 1,vesicle-associated membrane protein 1 isoform 4,vesicle-associated membrane protein 1 isoform 3,vesicle-associated membrane protein 1 isoform 2",",,,","True","T/C","rs2534715","Has SubmitterLinkOut,In 3' UTR,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","100","SNV","0.7272,0.2728","True","T/C","rs2534715",null,21093,"1366","0.272764",5008,986,190,"128","0.184438",694,94,17,"283","0.21407",1322,213,35,"298","0.304703",978,208,45,"325","0.323062",1006,223,51,"332","0.329365",1008,248,42,"True","esv3628406","Gain","<CN2>","DUP_gs","EX_TARGET","16230","1","0.000199681","5008","1","0","0","0","694","0","0","1","0.00075643","1322","1","0","0","0","978","0","0","0","0","1006","0","0","0","0","1008","0","0"]
["12:7053085","A/G",null,"PASS","0.647059","18,33",51,99,"0/1","C12orf57","5_prime_UTR_variant","Other","NM_138425.3","NM_138425.3:c.-200A>G",null,"NM_001301836.1,NM_001301834.1,NM_001301838.1,NM_001301837.1,NM_138425.3","1,2,1,1,1",",,,,","C12orf57,C12orf57,C12orf57,C12orf57,C12orf57","NM_001301836.1,NM_001301834.1,NM_001301838.1,NM_001301837.1,NM_138425.3","mRNA,mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA,mRNA","+,+,+,+,+","NP_001288765.1,NP_001288763.1,NP_001288767.1,NP_001288766.1,NP_612434.1","NP_001288765.1,NP_001288763.1,NP_001288767.1,NP_001288766.1,NP_612434.1","113246,113246,113246,113246,113246","29521,29521,29521,29521,29521","615140,615140,615140,615140,615140",",CCDS8571.1,CCDS76516.1,CCDS76515.1,CCDS8571.1","13609,13609,13609,13609,13609","protein C10 isoform 2,protein C10 isoform 1,protein C10 isoform 4,protein C10 isoform 3,protein C10 isoform 1",",,,,","True","A/G","rs3087835","Has SubmitterLinkOut,In 5' UTR,In Intron,In 3' gene region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","102","SNV","0.5349,0.4651","True","A/G","ss1388027591",null,-128,"2329","0.465056",5008,929,700,"272","0.391931",694,144,64,"1149","0.869138",1322,151,499,"330","0.337423",978,222,54,"300","0.298211",1006,214,43,"278","0.275794",1008,198,40,"False"]
["12:7965802","A/C",null,"PASS","0.25","30,10",40,99,"0/1","SLC2A14","3_prime_UTR_variant","Other","NM_001286237.1","NM_001286237.1:c.*1110T>G",null,"NM_001286234.1,NM_001286236.1,NM_001286233.1,NM_001286235.1,NM_153449.3,NM_001286237.1","11,10,16,13,12,10",",,,,,","SLC2A14,SLC2A14,SLC2A14,SLC2A14,SLC2A14,SLC2A14","NM_001286234.1,NM_001286236.1,NM_001286233.1,NM_001286235.1,NM_153449.3,NM_001286237.1","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","-,-,-,-,-,-","NP_001273163.1,NP_001273165.1,NP_001273162.1,NP_001273164.1,NP_703150.1,NP_001273166.1","NP_001273163.1,NP_001273165.1,NP_001273162.1,NP_001273164.1,NP_703150.1,NP_001273166.1","144195,144195,144195,144195,144195,144195","18301,18301,18301,18301,18301,18301","611039,611039,611039,611039,611039,611039","CCDS66301.1,CCDS66300.1,CCDS8585.1,CCDS66301.1,CCDS8585.1,CCDS66302.1",",,,,,","solute carrier family 2, facilitated glucose transporter member 14 isoform b,solute carrier family 2, facilitated glucose transporter member 14 isoform c,solute carrier family 2, facilitated glucose transporter member 14 isoform a,solute carrier family 2, facilitated glucose transporter member 14 isoform b,solute carrier family 2, facilitated glucose transporter member 14 isoform a,solute carrier family 2, facilitated glucose transporter member 14 isoform d",",,,,,","True","A/C","rs11055935","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,1000 Genome phase 1,1000 Genome phase 3","120","SNV","0.7562,0.2438","True","A/C","ss1388052943",null,-128,"1221","0.24381",5008,831,195,"159","0.229107",694,119,20,"107","0.080938",1322,101,3,"278","0.284254",978,178,50,"254","0.252485",1006,188,33,"423","0.419643",1008,245,89,"False"]
["12:8378935","A/T",null,"PASS","0.6","2,3",5,35,"0/1","FAM90A1","5_prime_UTR_variant","Other","NM_018088.3","NM_018088.3:c.-281T>A",null,"NM_001319982.1,NM_018088.3","2,2",",","FAM90A1,FAM90A1","NM_001319982.1,NM_018088.3","mRNA,mRNA","mRNA,mRNA","-,-","NP_001306911.1,NP_060558.3","NP_001306911.1,NP_060558.3","55138,55138","25526,25526","613041,613041","CCDS31738.1,CCDS31738.1",",","protein FAM90A1,protein FAM90A1",",","True","A/T","rs2077467","Has SubmitterLinkOut,In 5' UTR,In 5' gene region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","96","SNV","0.4794,0.5206","True","A/T","ss1388066035",null,-128,"2607","0.520567",5008,1079,764,"342","0.492795",694,214,64,"307","0.232224",1322,223,42,"509","0.52045",978,257,126,"579","0.575547",1006,267,156,"870","0.863095",1008,118,376,"True","esv3628458;esv3628459,esv3628458;esv3628459","Gain,Gain","<CN2>,<CN3>","DUP_gs,DUP_gs","EX_TARGET,EX_TARGET","17078,17078","463,62","0.0924521,0.0123802","5008,5008","393,62","35,0","116,15","0.167147,0.0216138","694,694","88,15","14,0","14,0","0.01059,0","1322,1322","12,0","1,0","90,10","0.0920245,0.0102249","978,978","82,10","4,0","150,20","0.149105,0.0198807","1006,1006","124,20","13,0","93,17","0.0922619,0.0168651","1008,1008","87,17","3,0"]
["12:10343011","G/A",null,"PASS","0.555556","12,15",27,99,"0/1","TMEM52B","3_prime_UTR_variant","Other","NM_001079815.1","NM_001079815.1:c.*272G>A",null,"NM_001079815.1,NM_153022.3","6,4",",","TMEM52B,TMEM52B","NM_001079815.1,NM_153022.3","mRNA,mRNA","mRNA,mRNA","+,+","NP_001073283.1,NP_694567.1","NP_001073283.1,NP_694567.1","120939,120939","26438,26438",",","CCDS66314.1,CCDS8619.1","08709,08709","transmembrane protein 52B isoform 2 precursor,transmembrane protein 52B isoform 1",",","True","G/A","rs10431295","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","119","SNV","0.6649,0.3351","True","G/A","rs10431295",null,21522,"1678","0.335064",5008,884,397,"203","0.292507",694,135,34,"173","0.130862",1322,145,14,"411","0.420245",978,235,88,"194","0.192843",1006,154,20,"697","0.691468",1008,215,241,"False"]
["12:11183123","T/C",null,"QD2,SOR3","0.201465","218,55",273,99,"0/1","PRH1,PRH1-TAS2R14,TAS2R31","missense_variant","Missense","NM_001291315.1,NM_001316893.1,NM_176885.2","NM_001291315.1:c.36+16496A>G,NM_001316893.1:c.140+4258A>G,NM_176885.2:c.812A>G",",,NP_795366.2:p.Tyr271Cys","NM_001291315.1,NM_001291314.1,NM_001316893.1,NM_176885.2","2,2,3,1",",,,87.2043","PRH1,PRH1,PRH1-TAS2R14,TAS2R31","NM_001291315.1,NM_001291314.1,NM_001316893.1,NM_176885.2","mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA","-,-,-,-","NP_001278244.1,NP_001278243.1,NP_001303822.1,NP_795366.2","NP_001278244.1,NP_001278243.1,NP_001303822.1,NP_795366.2","5554,5554,106707243,259290","9366,9366,,19113","168730,168730,,612669",",CCDS76533.1,,CCDS53747.1",",,,","salivary acidic proline-rich phosphoprotein 1/2 isoform b,salivary acidic proline-rich phosphoprotein 1/2 isoform a preproprotein,uncharacterized protein LOC106707243,taste receptor type 2 member 31",",,,","True","T/C/G","rs201103714","Has non-synonymous missense A coding region,Has reference A coding region,In Intron,Is Assembly specific,Is Validated","137","SNV",{"$nulls":36},"True","esv3628556","Loss","<CN0>","DEL_union","EX_TARGET","16318","1","0.000199681","5008","1","0","1","0.00144092","694","1","0","0","0","1322","0","0","0","0","978","0","0","0","0","1006","0","0","0","0","1008","0","0"]
["12:11183142","T/G",null,"QD2,SOR3","0.154676","235,43",278,99,"0/1","PRH1,PRH1-TAS2R14,TAS2R31","missense_variant","Missense","NM_001291315.1,NM_001316893.1,NM_176885.2","NM_001291315.1:c.36+16477A>C,NM_001316893.1:c.140+4239A>C,NM_176885.2:c.793A>C",",,NP_795366.2:p.Lys265Gln","NM_001291315.1,NM_001291314.1,NM_001316893.1,NM_176885.2","2,2,3,1",",,,85.1613","PRH1,PRH1,PRH1-TAS2R14,TAS2R31","NM_001291315.1,NM_001291314.1,NM_001316893.1,NM_176885.2","mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA","-,-,-,-","NP_001278244.1,NP_001278243.1,NP_001303822.1,NP_795366.2","NP_001278244.1,NP_001278243.1,NP_001303822.1,NP_795366.2","5554,5554,106707243,259290","9366,9366,,19113","168730,168730,,612669",",CCDS76533.1,,CCDS53747.1",",,,","salivary acidic proline-rich phosphoprotein 1/2 isoform b,salivary acidic proline-rich phosphoprotein 1/2 isoform a preproprotein,uncharacterized protein LOC106707243,taste receptor type 2 member 31",",,,","True","T/G","rs202033030","Has non-synonymous missense A coding region,Has reference A coding region,In Intron,Is Assembly specific,Is Validated","137","SNV",{"$nulls":36},"True","esv3628556","Loss","<CN0>","DEL_union","EX_TARGET","16318","1","0.000199681","5008","1","0","1","0.00144092","694","1","0","0","0","1322","0","0","0","0","978","0","0","0","0","1006","0","0","0","0","1008","0","0"]
["12:11286323","T/A",null,"QD2,SOR3","0.0882353","155,15",170,99,"0/1","PRH1,PRH1-TAS2R14,TAS2R30","missense_variant","Missense","NM_001291315.1,NM_001316893.1,NM_001097643.1","NM_001291315.1:c.-134+37698A>T,NM_001316893.1:c.-134+37698A>T,NM_001097643.1:c.521A>T",",,NP_001091112.1:p.His174Leu","NM_001291315.1,NM_001291314.1,NM_001316893.1,NM_001097643.1","1,1,1,1",",,,54.1667","PRH1,PRH1,PRH1-TAS2R14,TAS2R30","NM_001291315.1,NM_001291314.1,NM_001316893.1,NM_001097643.1","mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA","-,-,-,-","NP_001278244.1,NP_001278243.1,NP_001303822.1,NP_001091112.1","NP_001278244.1,NP_001278243.1,NP_001303822.1,NP_001091112.1","5554,5554,106707243,259293","9366,9366,,19112","168730,168730,,613963",",CCDS76533.1,,CCDS53750.1",",,,","salivary acidic proline-rich phosphoprotein 1/2 isoform b,salivary acidic proline-rich phosphoprotein 1/2 isoform a preproprotein,uncharacterized protein LOC106707243,taste receptor type 2 member 30",",,,","True","T/A/C","rs200095034","Has non-synonymous missense A coding region,Has reference A coding region,In Intron,Is Assembly specific,Is Validated,1000 Genome phase 3","137","SNV","0.9998,,0.0001997","False",{"$nulls":34},"False"]
["12:11506403","A/-",null,"MQ40","0.38983","72,46",118,99,"0/1","PRB1","frameshift_variant","LoF","NM_199353.2","NM_199353.2:c.314-79delT",null,"NM_199353.2,NM_005039.3,NM_199354.2","4,3,4",",63.5542,","PRB1,PRB1,PRB1","NM_199353.2,NM_005039.3,NM_199354.2","mRNA,mRNA,mRNA","mRNA,mRNA,mRNA","-,-,-","NP_955385.1,NP_005030.2,NP_955386.1","NP_955385.1,NP_005030.2,NP_955386.1","5542,5542,5542","9337,9337,9337","180989,180989,180989","CCDS8642.1,,CCDS55805.1","01623,01623,01623","basic salivary proline-rich protein 1 isoform 2 precursor,basic salivary proline-rich protein 1 isoform 1 preproprotein,basic salivary proline-rich protein 1 isoform 3 precursor",",,","False",{"$nulls":41},"True","esv3628571;esv3628572;esv3628573,esv3628571;esv3628572;esv3628573,esv3628571;esv3628572;esv3628573,esv3628574","Loss,Gain,Gain,Loss","<CN0>,<CN2>,<CN3>,<CN0>","DUP_gs,DUP_gs,DUP_gs,DEL_union","EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET","18749,18749,18749,22734","2,2,5,10","0.000399361,0.000399361,0.000998403,0.00199681","5008,5008,5008,5008","2,2,5,10","0,0,0,0","0,1,0,1","0,0.00144092,0,0.00144092","694,694,694,694","0,1,0,1","0,0,0,0","0,0,1,8","0,0,0.00075643,0.00605144","1322,1322,1322,1322","0,0,1,8","0,0,0,0","1,1,2,0","0.00102249,0.00102249,0.00204499,0","978,978,978,978","1,1,2,0","0,0,0,0","1,0,0,1","0.000994036,0,0,0.000994036","1006,1006,1006,1006","1,0,0,1","0,0,0,0","0,0,2,0","0,0,0.00198413,0","1008,1008,1008,1008","0,0,2,0","0,0,0,0"]
["12:18435452","C/T",null,"PASS","0.537879","61,71",132,99,"0/1","PIK3C2G","missense_variant","Missense","NM_001288772.1","NM_001288772.1:c.437C>T","NP_001275701.1:p.Pro146Leu","NM_001288774.1,NM_001288772.1,NM_004570.5","2,2,2",",9.77359,10.0507","PIK3C2G,PIK3C2G,PIK3C2G","NM_001288774.1,NM_001288772.1,NM_004570.5","mRNA,mRNA,mRNA","mRNA,mRNA,mRNA","+,+,+","NP_001275703.1,NP_001275701.1,NP_004561.3","NP_001275703.1,NP_001275701.1,NP_004561.3","5288,5288,5288","8973,8973,8973","609001,609001,609001",",CCDS73452.1,CCDS44839.1",",,","phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit gamma isoform 2,phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit gamma isoform 1,phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit gamma isoform 3",",,","True","C/T","rs11044004","Variant is Precious,Links exist to PubMed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,In 5' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","120","SNV","0.6468,0.3532","True","C/T","rs11044004","EX_TARGET",17858,"1769","0.353235",5008,1145,312,"283","0.407781",694,157,63,"478","0.361573",1322,312,83,"307","0.313906",978,215,46,"394","0.39165",1006,244,75,"307","0.304563",1008,217,45,"False"]
["12:21621817","A/C",null,"PASS","0.353982","73,40",113,99,"0/1","PYROXD1","3_prime_UTR_variant","Other","NM_024854.3","NM_024854.3:c.*129A>C",null,"NM_024854.3","12",null,"PYROXD1","NM_024854.3","mRNA","mRNA","+","NP_079130.2","NP_079130.2","79912","26162","617220","CCDS31755.1",null,"pyridine nucleotide-disulfide oxidoreductase domain-containing protein 1",null,"True","A/C","rs10841827","Has SubmitterLinkOut,In 3' UTR,In Intron,In 3' gene region,Is Assembly specific,Is Validated,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","120","SNV","0.6296,0.3704","True","A/C","rs71448605",null,16399,"1855","0.370407",5008,1081,387,"282","0.40634",694,154,64,"150","0.113464",1322,138,6,"499","0.510225",978,253,123,"468","0.465209",1006,258,105,"456","0.452381",1008,278,89,"False"]
["12:25358969","T/G",null,"PASS","0.6","10,15",25,99,"0/1","KRAS","3_prime_UTR_variant","Other","NM_004985.4","NM_004985.4:c.*3760A>C",null,"NM_033360.3,NM_004985.4","6,5",",","KRAS,KRAS","NM_033360.3,NM_004985.4","mRNA,mRNA","mRNA,mRNA","-,-","NP_203524.1,NP_004976.2","NP_203524.1,NP_004976.2","3845,3845","6407,6407","190070,190070","CCDS8703.1,CCDS8702.1","01817,01817","GTPase KRas isoform a,GTPase KRas isoform b",",","True","T/G","rs1137196","RS orientation is reversed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","86","SNV","0.5667,0.4333","True","T/G","rs1137196",null,17187,"2170","0.433307",5008,922,624,"329","0.474063",694,167,81,"115","0.0869894",1322,111,2,"472","0.482618",978,238,117,"438","0.435388",1006,256,91,"816","0.809524",1008,150,333,"False",{"$nulls":36},"T/G","308066","Likely Benign","Likely Benign","Likely benign (2)","(1 Stars) Criteria Provided, Single Submitter","rs1137196","KRAS","3845","NC_000012.11:g.25358969T>G","NC_000012.12:g.25206035T>G","NM_033360.3:c.*3881A>C",null,"RCV000314184,RCV000371183","Noonan syndrome,Cardio-facio-cutaneous syndrome","Likely Benign,Likely Benign","(1 Stars) Criteria Provided, Single Submitter,(1 Stars) Criteria Provided, Single Submitter","2016-06-14,2016-06-14"]
["12:29604392","C/G",null,"PASS","0.686869","31,68",99,99,"0/1","OVCH1","missense_variant","Missense","NM_183378.2","NM_183378.2:c.2641G>C","NP_899234.2:p.Ala881Pro","NM_183378.2","22","77.533","OVCH1","NM_183378.2","mRNA","mRNA","-","NP_899234.2","NP_899234.2","341350","23080",{"$nulls":3},"ovochymase-1 precursor",null,"True","C/G","rs1347570","RS orientation is reversed,Variant is Precious,Links exist to PubMed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","88","SNV","0.4894,0.5106","True","C/G","rs1347570","EX_TARGET",15119,"2557","0.510583",5008,1145,706,"273","0.393372",694,153,60,"821","0.621029",1322,299,261,"483","0.493865",978,255,114,"576","0.572565",1006,226,175,"404","0.400794",1008,212,96,"False"]
["12:32134638","T/C",null,"PASS","0.304636","105,46",151,99,"0/1","KIAA1551","missense_variant","Missense","NM_018169.3","NM_018169.3:c.749T>C","NP_060639.3:p.Leu250Pro","NM_018169.3","4","14.2639","KIAA1551","NM_018169.3","mRNA","mRNA","+","NP_060639.3","NP_060639.3","55196","25559",null,"CCDS8725.2",null,"uncharacterized protein KIAA1551",null,"True","T/C","rs2166807","RS orientation is reversed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","96","SNV","0.1597,0.8403","True","T/C","rs2166807","EX_TARGET",23386,"4208","0.840256",5008,682,1763,"568","0.818444",694,104,232,"1198","0.906203",1322,116,541,"817","0.835378",978,133,342,"794","0.789264",1006,178,308,"831","0.824405",1008,151,340,"False"]
["12:40907584","C/T",null,"PASS","0.888889","2,16",18,36,"0/1","MUC19","missense_variant","Missense","NM_173600.2","NM_173600.2:c.19814C>T","NP_775871.2:p.Thr6605Met","NM_173600.2","84","80.6685","MUC19","NM_173600.2","mRNA","mRNA","+","NP_775871.2","NP_775871.2","283463","14362","612170",null,null,"mucin-19 precursor",null,"True","C/T","rs2029615","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 3","94","SNV","0.3379,0.6621","True","C/T","rs2029615",null,20706,"3316","0.662141",5008,1086,1115,"453","0.652738",694,147,153,"956","0.723147",1322,272,342,"635","0.649284",978,201,217,"707","0.702783",1006,221,243,"565","0.560516",1008,245,160,"False"]
["12:48499931","A/T",null,"PASS","0.567568","16,21",37,99,"0/1","PFKM,SENP1","5_prime_UTR_variant","Other","NM_001166686.1,NM_001267594.1","NM_001166686.1:c.-10+11A>T,NM_001267594.1:c.-165T>A",",","NM_001267594.1,NM_001166686.1","1,1",",","SENP1,PFKM","NM_001267594.1,NM_001166686.1","mRNA,mRNA","mRNA,mRNA","-,+","NP_001254523.1,NP_001160158.1","NP_001254523.1,NP_001160158.1","29843,5213","17927,8877","612157,610681","CCDS44868.2,CCDS53786.1",",","sentrin-specific protease 1,ATP-dependent 6-phosphofructokinase, muscle type isoform 1",",","True","A/T","rs4760619","Variant is Precious,Links exist to PubMed,Has SubmitterLinkOut,In 5' UTR,In Intron,In 5' gene region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","111","SNV","0.8964,0.1036","True","A/T","rs4760619",null,14207,"519","0.103634",5008,445,37,"85","0.122478",694,75,5,"26","0.0196672",1322,26,0,"63","0.0644172",978,63,0,"163","0.162028",1006,139,12,"182","0.180556",1008,142,20,"False"]
["12:50045189","C/T",null,"PASS","0.508475","29,30",59,99,"0/1","FMNL3","missense_variant","Missense","NM_175736.4","NM_175736.4:c.1648G>A","NP_783863.4:p.Val550Met","NM_175736.4,NM_198900.2","15,14","53.4047,50.9724","FMNL3,FMNL3","NM_175736.4,NM_198900.2","mRNA,mRNA","mRNA,mRNA","-,-","NP_783863.4,NP_944489.2","NP_783863.4,NP_944489.2","91010,91010","23698,23698","616288,616288","CCDS44874.1,CCDS41780.1",",","formin-like protein 3 isoform 1,formin-like protein 3 isoform 2",",","True","C/T","rs147771934","Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,Marker on high density genotype kit (50K+),1000 Genome phase 1,1000 Genome phase 3","134","SNV","0.9986,0.001398","True","C/T","rs147771934","EX_TARGET",17061,"7","0.00139776",5008,7,0,"0","0",694,0,0,"0","0",1322,0,0,"0","0",978,0,0,"7","0.00695825",1006,7,0,"0","0",1008,0,0,"False"]
["12:50189602","A/G",null,"PASS","0.570093","46,61",107,99,"0/1","NCKAP5L","missense_variant","Missense","NM_001037806.3","NM_001037806.3:c.2041T>C","NP_001032895.2:p.Ser681Pro","NM_001037806.3","8","50.9363","NCKAP5L","NM_001037806.3","mRNA","mRNA","-","NP_001032895.2","NP_001032895.2","57701","29321","615104","CCDS41781.2",null,"nck-associated protein 5-like",null,"True","A/G","rs3813526","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","107","SNV","0.7232,0.2768","True","A/G","rs3813526","EX_TARGET",12823,"1386","0.276757",5008,830,278,"267","0.384726",694,141,63,"308","0.23298",1322,226,41,"206","0.210634",978,160,23,"54","0.0536779",1006,52,1,"551","0.546627",1008,251,150,"False"]
["12:52862525","A/G",null,"PASS","0.6","2,3",5,54,"0/1","KRT6C","3_prime_UTR_variant","Other","NM_173086.4","NM_173086.4:c.*321T>C",null,"NM_173086.4","9",null,"KRT6C","NM_173086.4","mRNA","mRNA","-","NP_775109.2","NP_775109.2","286887","20406","612315","CCDS8829.1",null,"keratin, type II cytoskeletal 6C",null,"True","A/G","rs372790","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","80","SNV","0.5148,0.4852","True","A/G","rs372790",null,18891,"2430","0.485224",5008,1106,662,"422","0.608069",694,152,135,"344","0.260212",1322,254,45,"411","0.420245",978,239,86,"611","0.607356",1006,239,186,"642","0.636905",1008,222,210,"True","esv3629518","Loss","<CN0>","DEL_union","EX_TARGET","21866","3","0.000599042","5008","3","0","0","0","694","0","0","0","0","1322","0","0","1","0.00102249","978","1","0","2","0.00198807","1006","2","0","0","0","1008","0","0"]
["12:53189696","C/G",null,"PASS","0.434783","78,60",138,99,"0/1","KRT3","missense_variant","Missense","NM_057088.2","NM_057088.2:c.131G>C","NP_476429.2:p.Gly44Ala","NM_057088.2","1","6.88924","KRT3","NM_057088.2","mRNA","mRNA","-","NP_476429.2","NP_476429.2","3850","6440","148043","CCDS44895.1",null,"keratin, type II cytoskeletal 3",null,"True","C/G","rs28721426","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","125","SNV","0.8616,0.1384","True","C/G","rs28721426","EX_TARGET",14277,"693","0.138379",5008,527,83,"81","0.116715",694,69,6,"389","0.294251",1322,259,65,"57","0.0582822",978,55,1,"164","0.163022",1006,142,11,"2","0.00198413",1008,2,0,"True","esv3629524","Gain","<CN2>","DUP_delly","IMPRECISE,EX_TARGET","21950","6","0.00119808","5008","6","0","1","0.00144092","694","1","0","1","0.00075643","1322","1","0","0","0","978","0","0","1","0.000994036","1006","1","0","3","0.00297619","1008","3","0"]
["12:53581376","C/T",null,"PASS","0.402597","46,31",77,99,"0/1","ZNF740","3_prime_UTR_variant","Other","NM_001004304.3","NM_001004304.3:c.*2C>T",null,"NM_001004304.3","7",null,"ZNF740","NM_001004304.3","mRNA","mRNA","+","NP_001004304.1","NP_001004304.1","283337","27465",null,"CCDS44896.1","17329","zinc finger protein 740",null,"True","C/T","rs3101059","RS orientation is reversed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","103","SNV","0.9063,0.09365","True","C/T","rs3101059","EX_TARGET",18031,"469","0.0936502",5008,413,28,"112","0.161383",694,92,10,"21","0.015885",1322,21,0,"100","0.102249",978,88,6,"134","0.133201",1006,118,8,"102","0.10119",1008,94,4,"False"]
["12:55715048","C/T",null,"PASS","0.48913","47,45",92,99,"0/1","OR6C1","missense_variant","Missense","NM_001005182.1","NM_001005182.1:c.665C>T","NP_001005182.1:p.Thr222Ile","NM_001005182.1","1","70.7135","OR6C1","NM_001005182.1","mRNA","mRNA","+","NP_001005182.1","NP_001005182.1","390321","8355",null,"CCDS31818.1","11416","olfactory receptor 6C1",null,"True","C/T","rs7132600","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","116","SNV","0.8926,0.1074","True","C/T","rs7132600","EX_TARGET",20634,"538","0.107428",5008,456,41,"66","0.0951009",694,56,5,"262","0.198185",1322,200,31,"52","0.0531697",978,52,0,"158","0.157058",1006,148,5,"0","0",1008,0,0,"True","esv3629571","Loss","<CN0>","DEL_union","EX_TARGET","15045","1","0.000199681","5008","1","0","0","0","694","0","0","0","0","1322","0","0","0","0","978","0","0","1","0.000994036","1006","1","0","0","0","1008","0","0"]
["12:57422934","G/A",null,"PASS","0.461538","28,24",52,99,"0/1","MYO1A","missense_variant","Missense","NM_005379.3","NM_005379.3:c.2987C>T","NP_005370.1:p.Thr996Ile","NM_005379.3,NM_001256041.1","27,28","95.3384,95.3384","MYO1A,MYO1A","NM_005379.3,NM_001256041.1","mRNA,mRNA","mRNA,mRNA","-,-","NP_005370.1,NP_001242970.1","NP_005370.1,NP_001242970.1","4640,4640","7595,7595","601478,601478","CCDS8929.1,CCDS8929.1",",","unconventional myosin-Ia,unconventional myosin-Ia",",","True","G/A","rs17119344","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","123","SNV","0.8804,0.1196","True","G/A","rs17119344","EX_TARGET",18139,"599","0.119609",5008,503,48,"81","0.116715",694,71,5,"109","0.0824508",1322,97,6,"120","0.122699",978,92,14,"104","0.10338",1006,86,9,"185","0.183532",1008,157,14,"False",{"$nulls":36},"G/A","45311","Likely Benign","Benign/Likely Benign","Benign (3),Likely benign (1)","(2 Stars) Criteria Provided, Multiple Submitters, No Conflicts","rs17119344","MYO1A","4640","NC_000012.11:g.57422934G>A","NC_000012.12:g.57029150G>A","NM_005379.3:c.2987C>T","NP_005370.1:p.Thr996Ile","RCV000038475,RCV000303672","not specified,Nonsyndromic Hearing Loss, Dominant","Benign,Likely Benign","(2 Stars) Criteria Provided, Multiple Submitters, No Conflicts,(1 Stars) Criteria Provided, Single Submitter","2017-05-09,2016-06-14"]
["12:63964599","T/C",null,"QD2,SOR3","0.113402","86,11",97,99,"0/1","DPY19L2","missense_variant","Missense","NM_173812.4","NM_173812.4:c.1939A>G","NP_776173.3:p.Ile647Val","NM_173812.4","20","85.112","DPY19L2","NM_173812.4","mRNA","mRNA","-","NP_776173.3","NP_776173.3","283417","19414","613893","CCDS31851.1",null,"probable C-mannosyltransferase DPY19L2",null,"True","T/C","rs557778926","Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,1000 Genome phase 3","142","SNV","0.9962,0.003794","True","T/C","rs557778926","EX_TARGET",17686,"19","0.00379393",5008,19,0,"5","0.00720461",694,5,0,"8","0.00605144",1322,8,0,"5","0.00511247",978,5,0,"1","0.000994036",1006,1,0,"0","0",1008,0,0,"True","esv3629756;esv3629757,esv3629756;esv3629757,esv3629758","Loss,Gain,Loss","<CN0>,<CN2>,<CN0>","DUP_gs,DUP_gs,DEL_union","EX_TARGET,EX_TARGET,EX_TARGET","18749,18749,18677","2,59,4","0.000399361,0.0117812,0.000798722","5008,5008,5008","2,51,4","0,4,0","1,5,2","0.00144092,0.00720461,0.00288184","694,694,694","1,5,2","0,0,0","0,34,1","0,0.0257186,0.00075643","1322,1322,1322","0,28,1","0,3,0","1,8,1","0.00102249,0.00817996,0.00102249","978,978,978","1,6,1","0,1,0","0,9,0","0,0.00894632,0","1006,1006,1006","0,9,0","0,0,0","0,3,0","0,0.00297619,0","1008,1008,1008","0,3,0","0,0,0"]
["12:70351684","C/A",null,"PASS","0.488095","43,41",84,99,"0/1","MYRFL","missense_variant","Missense","NM_182530.2","NM_182530.2:c.2533C>A","NP_872336.2:p.Leu845Met","NM_182530.2","23","92.6454","MYRFL","NM_182530.2","mRNA","mRNA","+","NP_872336.2","NP_872336.2","196446","26316",null,"CCDS76577.1",null,"myelin regulatory factor-like protein",null,"True","C/A","rs10879065","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","120","SNV","0.6763,0.3237","True","C/A","rs10879065",null,20827,"1621","0.323682",5008,981,320,"286","0.412104",694,156,65,"147","0.111195",1322,129,9,"343","0.350716",978,221,61,"352","0.349901",1006,228,62,"493","0.489087",1008,247,123,"False"]
["12:79985874","A/C",null,"PASS","0.592308","53,77",130,99,"0/1","PAWR","3_prime_UTR_variant","Other","NM_002583.2","NM_002583.2:c.*513T>G",null,"NM_002583.2","7",null,"PAWR","NM_002583.2","mRNA","mRNA","-","NP_002574.2","NP_002574.2","5074","8614","601936","CCDS31863.1",null,"PRKC apoptosis WT1 regulator protein",null,"True","A/C","rs2307220","RS orientation is reversed,Variant is Precious,Links exist to PubMed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","100","SNV","0.5992,0.4008","True","A/C","rs2307220",null,16235,"2007","0.400759",5008,681,663,"149","0.214697",694,105,22,"1205","0.911498",1322,103,551,"188","0.192229",978,140,24,"156","0.15507",1006,130,13,"309","0.306548",1008,203,53,"False"]
["12:99007623","C/T",null,"PASS","0.376623","48,29",77,99,"0/1","IKBIP","missense_variant","Missense","NM_201612.2","NM_201612.2:c.793G>A","NP_963906.1:p.Gly265Ser","NM_201613.2,NM_201612.2","2,3",",75.2137","IKBIP,IKBIP","NM_201613.2,NM_201612.2","mRNA,mRNA","mRNA,mRNA","-,-","NP_963907.1,NP_963906.1","NP_963907.1,NP_963906.1","121457,121457","26430,26430","609861,609861","CCDS41822.1,CCDS9067.1","08092,08092","inhibitor of nuclear factor kappa-B kinase-interacting protein isoform 3,inhibitor of nuclear factor kappa-B kinase-interacting protein isoform 2",",","True","C/T","rs1048906","RS orientation is reversed,Has 3D structure,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","86","SNV","0.6094,0.3906","True","C/T","rs1048906","EX_TARGET",19240,"1956","0.390575",5008,1168,394,"231","0.332853",694,159,36,"700","0.529501",1322,322,189,"373","0.381391",978,239,67,"300","0.298211",1006,220,40,"352","0.349206",1008,228,62,"False"]
["12:104743461","C/T",null,"PASS","0.488372","22,21",43,99,"0/1","TXNRD1","3_prime_UTR_variant","Other","NM_001093771.2","NM_001093771.2:c.*1262C>T",null,"NM_001093771.2,NM_182743.2,NM_182742.2,NM_003330.3,NM_001261446.1,NM_182729.2,NM_001261445.1","17,14,14,15,14,15,15",",,,,,,","TXNRD1,TXNRD1,TXNRD1,TXNRD1,TXNRD1,TXNRD1,TXNRD1","NM_001093771.2,NM_182743.2,NM_182742.2,NM_003330.3,NM_001261446.1,NM_182729.2,NM_001261445.1","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","+,+,+,+,+,+,+","NP_001087240.1,NP_877420.1,NP_877419.1,NP_003321.3,NP_001248375.1,NP_877393.1,NP_001248374.1","NP_001087240.1,NP_877420.1,NP_877419.1,NP_003321.3,NP_001248375.1,NP_877393.1,NP_001248374.1","7296,7296,7296,7296,7296,7296,7296","12437,12437,12437,12437,12437,12437,12437","601112,601112,601112,601112,601112,601112,601112","CCDS53820.1,CCDS53823.1,CCDS53823.1,CCDS53821.1,CCDS58274.1,CCDS53823.1,",",,,,,,","thioredoxin reductase 1, cytoplasmic isoform 3,thioredoxin reductase 1, cytoplasmic isoform 2,thioredoxin reductase 1, cytoplasmic isoform 2,thioredoxin reductase 1, cytoplasmic isoform 1,thioredoxin reductase 1, cytoplasmic isoform 5,thioredoxin reductase 1, cytoplasmic isoform 2,thioredoxin reductase 1, cytoplasmic isoform 4",",,,,,,","True","C/T","rs35232644","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","126","SNV","0.9876,0.01238","True","C/T","rs35232644",null,18105,"62","0.0123802",5008,60,1,"16","0.0230548",694,16,0,"3","0.00226929",1322,3,0,"10","0.0102249",978,8,1,"33","0.0328032",1006,33,0,"0","0",1008,0,0,"True","esv3630637","Loss","<CN0>","DEL_union",null,"18060","1","0.000199681","5008","1","0","0","0","694","0","0","0","0","1322","0","0","1","0.00102249","978","1","0","0","0","1006","0","0","0","0","1008","0","0"]
["12:107713696","G/A",null,"PASS","0.576923","11,15",26,99,"0/1","BTBD11","missense_variant","Missense","NM_001018072.1","NM_001018072.1:c.979G>A","NP_001018082.1:p.Ala327Thr","NM_001347943.1,NM_001018072.1","1,1","33.0629,29.5023","BTBD11,BTBD11","NM_001347943.1,NM_001018072.1","mRNA,mRNA","mRNA,mRNA","+,+","NP_001334872.1,NP_001018082.1","NP_001334872.1,NP_001018082.1","121551,121551","23844,23844",",",",CCDS31893.1",",","ankyrin repeat and BTB/POZ domain-containing protein BTBD11 isoform c,ankyrin repeat and BTB/POZ domain-containing protein BTBD11 isoform a",",","True","G/A","rs111260184","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","132","SNV","0.6054,0.3946","True","G/A","rs111260184","EX_TARGET",7762,"1976","0.394569",5008,1130,423,"315","0.453891",694,165,75,"291","0.220121",1322,241,25,"459","0.469325",978,219,120,"495","0.492048",1006,257,119,"416","0.412698",1008,248,84,"False"]
["12:114377877","T/C",null,"PASS","0.453488","47,39",86,99,"0/1","RBM19","missense_variant","Missense","NM_016196.3","NM_016196.3:c.1826A>G","NP_057280.2:p.His609Arg","NM_001146699.1,NM_001146698.1,NM_016196.3","15,15,15","63.3021,63.3021,63.3021","RBM19,RBM19,RBM19","NM_001146699.1,NM_001146698.1,NM_016196.3","mRNA,mRNA,mRNA","mRNA,mRNA,mRNA","-,-,-","NP_001140171.1,NP_001140170.1,NP_057280.2","NP_001140171.1,NP_001140170.1,NP_057280.2","9904,9904,9904","29098,29098,29098","616444,616444,616444","CCDS9172.1,CCDS9172.1,CCDS9172.1",",,","probable RNA-binding protein 19,probable RNA-binding protein 19,probable RNA-binding protein 19",",,","True","T/C","rs2290789","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","100","SNV","0.8011,0.1989","True","T/C","rs2290789","EX_TARGET",17496,"996","0.198882",5008,740,128,"53","0.0763689",694,45,4,"458","0.346445",1322,304,77,"181","0.185072",978,139,21,"114","0.11332",1006,102,6,"190","0.188492",1008,150,20,"False"]
["12:121014841","G/C",null,"PASS","0.4","3,2",5,58,"0/1","RNF10","3_prime_UTR_variant","Other","NM_001330474.1","NM_001330474.1:c.*372G>C",null,"NM_014868.4,NM_001330474.1","17,17",",","RNF10,RNF10","NM_014868.4,NM_001330474.1","mRNA,mRNA","mRNA,mRNA","+,+","NP_055683.3,NP_001317403.1","NP_055683.3,NP_001317403.1","9921,9921","10055,10055","615998,615998","CCDS9201.1,CCDS81746.1",",","RING finger protein 10 isoform 1,RING finger protein 10 isoform 2",",","True","G/C","rs3088345","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","102","SNV","0.7414,0.2586","True","G/C","rs3088345",null,19160,"1295","0.258586",5008,891,202,"273","0.393372",694,171,51,"78","0.0590015",1322,72,3,"329","0.336401",978,213,58,"354","0.351889",1006,236,59,"261","0.258929",1008,199,31,"False"]
["12:121603856","C/G",null,"PASS","0.575758","42,57",99,99,"0/1","P2RX7","splice_region_variant","Other","NM_002562.5","NM_002562.5:c.615-5C>G",null,"NM_002562.5","7",null,"P2RX7","NM_002562.5","mRNA","mRNA","+","NP_002553.3","NP_002553.3","5027","8537","602566","CCDS9213.1",null,"P2X purinoceptor 7",null,"True","C/G","rs208307","RS orientation is reversed,Has SubmitterLinkOut,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","79","SNV","0.7468,0.2532","True","C/G","rs208307","EX_TARGET",21219,"1268","0.253195",5008,888,190,"116","0.167147",694,98,9,"448","0.33888",1322,284,82,"286","0.292434",978,180,53,"287","0.285288",1006,209,39,"131","0.12996",1008,117,7,"True","esv3630941","Loss","<CN0>","DEL_union","EX_TARGET","17048","1","0.000199681","5008","1","0","1","0.00144092","694","1","0","0","0","1322","0","0","0","0","978","0","0","0","0","1006","0","0","0","0","1008","0","0"]
["12:124799091","G/A",null,"PASS","0.522936","52,57",109,99,"0/1","RFLNA,ZNF664-RFLNA","3_prime_UTR_variant","Other","NM_181709.4,NM_001204299.2","NM_181709.4:c.*20G>A,NM_001204299.2:c.*20G>A",",","NM_001204299.2,NM_001347902.1,NM_181709.4","5,5,3",",,","ZNF664-RFLNA,ZNF664-RFLNA,RFLNA","NM_001204299.2,NM_001347902.1,NM_181709.4","mRNA,mRNA,mRNA","mRNA,mRNA,mRNA","+,+,+","NP_001191228.1,NP_001334831.1,NP_859060.3","NP_001191228.1,NP_001334831.1,NP_859060.3","100533183,100533183,144347",",,27051",",,615927","CCDS9258.1,,CCDS9258.1",",,","filamin-interacting protein FAM101A,filamin-interacting protein FAM101A,filamin-interacting protein FAM101A",",,","False",{"$nulls":41},"True","esv3631010,esv3631011,esv3631012","Gain,Gain,Gain","<CN2>,<CN2>,<CN2>","DUP_delly,DUP_gs,DUP_uwash","IMPRECISE,EX_TARGET,EX_TARGET,EX_TARGET","20229,19335,24916","5,1,4","0.000998403,0.000199681,0.000798722","5008,5008,5008","5,1,2","0,0,1","1,0,1","0.00144092,0,0.00144092","694,694,694","1,0,1","0,0,0","1,0,0","0.00075643,0,0","1322,1322,1322","1,0,0","0,0,0","0,0,0","0,0,0","978,978,978","0,0,0","0,0,0","2,1,2","0.00198807,0.000994036,0.00198807","1006,1006,1006","2,1,0","0,0,1","1,0,1","0.000992064,0,0.000992064","1008,1008,1008","1,0,1","0,0,0"]
["12:133295501","T/C",null,"PASS","0.555556","12,15",27,99,"0/1","PGAM5","3_prime_UTR_variant","Other","NM_001170543.1","NM_001170543.1:c.719+795T>C",null,"NM_138575.3,NM_001170544.1,NM_001170543.1","6,5,5",",,","PGAM5,PGAM5,PGAM5","NM_138575.3,NM_001170544.1,NM_001170543.1","mRNA,mRNA,mRNA","mRNA,mRNA,mRNA","+,+,+","NP_612642.2,NP_001164015.1,NP_001164014.1","NP_612642.2,NP_001164015.1,NP_001164014.1","192111,192111,192111","28763,28763,28763","614939,614939,614939","CCDS9280.1,,CCDS53845.1",",,","serine/threonine-protein phosphatase PGAM5, mitochondrial isoform 3,serine/threonine-protein phosphatase PGAM5, mitochondrial isoform 2,serine/threonine-protein phosphatase PGAM5, mitochondrial isoform 1",",,","True","T/C","rs11147015","Has SubmitterLinkOut,In 3' UTR,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","120","SNV","0.7432,0.2568","True","T/C","rs11147015",null,10768,"1286","0.256789",5008,852,217,"199","0.286744",694,157,21,"125","0.0945537",1322,117,4,"267","0.273006",978,195,36,"161","0.16004",1006,129,16,"534","0.529762",1008,254,140,"True","esv3631310;esv3631311,esv3631310;esv3631311","Loss,Gain","<CN0>,<CN2>","DUP_gs,DUP_gs","EX_TARGET,EX_TARGET","17797,17797","4,1","0.000798722,0.000199681","5008,5008","4,1","0,0","1,0","0.00144092,0","694,694","1,0","0,0","0,1","0,0.00075643","1322,1322","0,1","0,0","1,0","0.00102249,0","978,978","1,0","0,0","1,0","0.000994036,0","1006,1006","1,0","0,0","1,0","0.000992064,0","1008,1008","1,0","0,0"]
["13:20277413","T/C",null,"PASS","0.379888","222,136",358,99,"0/1","PSPC1","missense_variant","Missense","NM_001042414.2","NM_001042414.2:c.1474A>G","NP_001035879.1:p.Met492Val","NM_001042414.2","10","93.7023","PSPC1","NM_001042414.2","mRNA","mRNA","-","NP_001035879.1","NP_001035879.1","55269","20320","612408","CCDS41870.1",null,"paraspeckle component 1",null,"True","T/A/C","rs3852596","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1","108","SNV",{"$nulls":36},"True","esv3631393","Gain","<CN2>","DUP_uwash","EX_TARGET","15001","8","0.00159744","5008","2","3","2","0.00288184","694","0","1","3","0.00226929","1322","1","1","1","0.00102249","978","1","0","2","0.00198807","1006","0","1","0","0","1008","0","0"]
["13:25440318","G/A",null,"PASS","0.523529","81,89",170,99,"0/1","RNF17","missense_variant","Missense","NM_031277.2","NM_031277.2:c.4138G>A","NP_112567.2:p.Glu1380Lys","NM_001184993.1,NM_031277.2","30,30","84.8765,84.9138","RNF17,RNF17","NM_001184993.1,NM_031277.2","mRNA,mRNA","mRNA,mRNA","+,+","NP_001171922.1,NP_112567.2","NP_001171922.1,NP_112567.2","56163,56163","10060,10060","605793,605793",",CCDS9308.2",",","RING finger protein 17 isoform 2,RING finger protein 17 isoform 1",",","True","G/A","rs9507425","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","119","SNV","0.7879,0.2121","True","G/A","rs9507425","EX_TARGET",17485,"1062","0.212061",5008,774,144,"153","0.220461",694,127,13,"112","0.0847201",1322,104,4,"177","0.180982",978,135,21,"292","0.290258",1006,196,48,"328","0.325397",1008,212,58,"False"]
["13:28876214","T/C",null,"PASS","0.666667","4,8",12,99,"0/1","FLT1","3_prime_UTR_variant","Other","NM_002019.4","NM_002019.4:c.*1090A>G",null,"NM_002019.4","30",null,"FLT1","NM_002019.4","mRNA","mRNA","-","NP_002010.2","NP_002010.2","2321","3763","165070","CCDS9330.1",null,"vascular endothelial growth factor receptor 1 isoform 1 precursor",null,"True","T/C","rs7326277","Variant is Precious,Links exist to PubMed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","116","SNV","0.739,0.261","True","T/C","rs7326277",null,20100,"1307","0.260982",5008,777,265,"62","0.0893372",694,52,5,"712","0.538578",1322,340,186,"86","0.0879346",978,78,4,"100","0.0994036",1006,90,5,"347","0.344246",1008,217,65,"False"]
["13:36742906","T/C",null,"PASS","0.4","30,20",50,99,"0/1","CCDC169-SOHLH2,SOHLH2","3_prime_UTR_variant","Other","NM_001198910.1,NM_017826.2","NM_001198910.1:c.*265A>G,NM_017826.2:c.*265A>G",",","NM_017826.2,NM_001198910.1","11,16",",","SOHLH2,CCDC169-SOHLH2","NM_017826.2,NM_001198910.1","mRNA,mRNA","mRNA,mRNA","-,-","NP_060296.2,NP_001185839.1","NP_060296.2,NP_001185839.1","54937,100526761","26026,38866","616066,","CCDS9355.1,CCDS55896.1",",","spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 2 isoform 1,CCDC169-SOHLH2 protein",",","True","T/C","rs9546567","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","119","SNV","0.8462,0.1538","True","T/C","rs9546567",null,18901,"770","0.153754",5008,604,83,"144","0.207493",694,110,17,"214","0.161876",1322,184,15,"149","0.152352",978,119,15,"262","0.260437",1006,190,36,"1","0.000992064",1008,1,0,"False"]
["13:42809276","G/C",null,"QUAL30","0.5","2,2",4,37,"0/1","DGKH","3_prime_UTR_variant","Other","NM_178009.4","NM_178009.4:c.*5952G>C",null,"NM_001204504.2,NM_178009.4,NM_152910.5,NM_001297429.1,NM_001204505.2,NM_001204506.2","30,30,29,25,29,28",",,,,,","DGKH,DGKH,DGKH,DGKH,DGKH,DGKH","NM_001204504.2,NM_178009.4,NM_152910.5,NM_001297429.1,NM_001204505.2,NM_001204506.2","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","+,+,+,+,+,+","NP_001191433.1,NP_821077.1,NP_690874.2,NP_001284358.1,NP_001191434.1,NP_001191435.1","NP_001191433.1,NP_821077.1,NP_690874.2,NP_001284358.1,NP_001191434.1,NP_001191435.1","160851,160851,160851,160851,160851,160851","2854,2854,2854,2854,2854,2854","604071,604071,604071,604071,604071,604071","CCDS9382.1,CCDS9381.1,CCDS9382.1,,CCDS55898.1,CCDS55899.1","07237,07237,07237,07237,07237,07237","diacylglycerol kinase eta isoform 1,diacylglycerol kinase eta isoform 2,diacylglycerol kinase eta isoform 1,diacylglycerol kinase eta isoform 5,diacylglycerol kinase eta isoform 3,diacylglycerol kinase eta isoform 4",",,,,,","True","G/C","rs1449505","RS orientation is reversed,Has SubmitterLinkOut,In 3' UTR,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","88","SNV","0.7991,0.2009","True","G/C","rs1449505",null,15597,"1006","0.200879",5008,760,123,"167","0.240634",694,121,23,"223","0.168684",1322,171,26,"151","0.154397",978,119,16,"290","0.28827",1006,216,37,"175","0.173611",1008,133,21,"False"]
["13:46115731","C/A",null,"PASS","0.440945","71,56",127,99,"0/1","ERICH6B","missense_variant","Missense","NM_182542.2","NM_182542.2:c.1957G>T","NP_872348.2:p.Val653Phe","NM_182542.2","15","93.5438","ERICH6B","NM_182542.2","mRNA","mRNA","-","NP_872348.2","NP_872348.2","220081","26523",null,"CCDS45045.1",null,"glutamate-rich protein 6B",null,"True","C/A","rs1536207","RS orientation is reversed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","88","SNV","0.6316,0.3684","True","C/A","rs1536207",null,18039,"1845","0.368411",5008,1057,394,"252","0.363112",694,166,43,"215","0.162632",1322,175,20,"446","0.456033",978,242,102,"363","0.360835",1006,239,62,"569","0.564484",1008,235,167,"False"]
["13:50107973","G/C",null,"PASS","0.533333","7,8",15,99,"0/1","RCBTB1","3_prime_UTR_variant","Other","NM_018191.3","NM_018191.3:c.*285C>G",null,"NM_018191.3","13",null,"RCBTB1","NM_018191.3","mRNA","mRNA","-","NP_060661.3","NP_060661.3","55213","18243","607867","CCDS9418.1",null,"RCC1 and BTB domain-containing protein 1",null,"True","G/C","rs3186012","RS orientation is reversed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","105","SNV","0.5787,0.4213","True","G/C","rs3186012",null,20100,"2110","0.421326",5008,1180,465,"378","0.544669",694,166,106,"458","0.346445",1322,298,80,"294","0.300613",978,206,44,"521","0.517893",1006,257,132,"459","0.455357",1008,253,103,"False"]
["13:51939017","T/C",null,"PASS","0.358974","25,14",39,99,"0/1","INTS6","3_prime_UTR_variant","Other","NM_012141.2","NM_012141.2:c.*871A>G",null,"NM_001306091.1,NM_001039937.1,NM_012141.2","20,19,18",",,","INTS6,INTS6,INTS6","NM_001306091.1,NM_001039937.1,NM_012141.2","mRNA,mRNA,mRNA","mRNA,mRNA,mRNA","-,-,-","NP_001293020.1,NP_001035026.1,NP_036273.1","NP_001293020.1,NP_001035026.1,NP_036273.1","26512,26512,26512","14879,14879,14879","604331,604331,604331","CCDS76636.1,CCDS41890.1,CCDS9428.1",",,","integrator complex subunit 6 isoform 4,integrator complex subunit 6 isoform b,integrator complex subunit 6 isoform a",",,","True","T/C","rs117986217","Has SubmitterLinkOut,In 3' UTR,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),1000 Genome phase 1,1000 Genome phase 3","132","SNV","0.9724,0.02756","True","T/C","rs117986217",null,22382,"138","0.0275559",5008,126,6,"25","0.0360231",694,21,2,"13","0.00983359",1322,13,0,"42","0.0429448",978,40,1,"58","0.0576541",1006,52,3,"0","0",1008,0,0,"False"]
["13:76180042","T/G",null,"PASS","0.755245","35,108",143,99,"0/1","UCHL3","3_prime_UTR_variant","Other","NM_006002.4","NM_006002.4:c.*94T>G",null,"NM_001270952.1,NM_006002.4","9,9",",","UCHL3,UCHL3","NM_001270952.1,NM_006002.4","mRNA,mRNA","mRNA,mRNA","+,+","NP_001257881.1,NP_005993.1","NP_001257881.1,NP_005993.1","7347,7347","12515,12515","603090,603090","CCDS73586.1,CCDS9453.1",",","ubiquitin carboxyl-terminal hydrolase isozyme L3 isoform 1,ubiquitin carboxyl-terminal hydrolase isozyme L3 isoform 2",",","True","T/G","rs2274048","Has SubmitterLinkOut,In 3' UTR,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","100","SNV","0.8702,0.1298","True","T/G","rs2274048",null,18070,"650","0.129792",5008,506,72,"65","0.0936599",694,61,2,"51","0.0385779",1322,47,2,"285","0.291411",978,181,52,"186","0.184891",1006,154,16,"63","0.0625",1008,63,0,"False"]
["13:95091739","A/G",null,"PASS","0.5","2,2",4,63,"0/1","DCT","3_prime_UTR_variant","Other","NM_001129889.2","NM_001129889.2:c.*413T>C",null,"NM_001129889.2,NM_001922.4,NM_001322185.1,NM_001322182.1,NM_001322184.1,NM_001322183.1,NM_001322186.1","10,8,8,7,9,8,10",",,,,,,","DCT,DCT,DCT,DCT,DCT,DCT,DCT","NM_001129889.2,NM_001922.4,NM_001322185.1,NM_001322182.1,NM_001322184.1,NM_001322183.1,NM_001322186.1","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","-,-,-,-,-,-,-","NP_001123361.1,NP_001913.2,NP_001309114.1,NP_001309111.1,NP_001309113.1,NP_001309112.1,NP_001309115.1","NP_001123361.1,NP_001913.2,NP_001309114.1,NP_001309111.1,NP_001309113.1,NP_001309112.1,NP_001309115.1","1638,1638,1638,1638,1638,1638,1638","2709,2709,2709,2709,2709,2709,2709","191275,191275,191275,191275,191275,191275,191275","CCDS45060.1,CCDS9470.1,,,,,",",,,,,,","L-dopachrome tautomerase isoform 2 precursor,L-dopachrome tautomerase isoform 1 precursor,L-dopachrome tautomerase isoform 3,L-dopachrome tautomerase isoform 3,L-dopachrome tautomerase isoform 3,L-dopachrome tautomerase isoform 3,L-dopachrome tautomerase isoform 4",",,,,,,","True","A/G","rs17791924","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","123","SNV","0.7302,0.2698","True","A/G","rs17791924",null,17096,"1351","0.269768",5008,969,191,"210","0.302594",694,142,34,"286","0.216339",1322,236,25,"284","0.290389",978,198,43,"425","0.422465",1006,267,79,"146","0.144841",1008,126,10,"False"]
["13:109777503","A/G",null,"PASS","0.778947","42,148",190,99,"0/1","MYO16","missense_variant","Missense","NM_001198950.1","NM_001198950.1:c.3579A>G","NP_001185879.1:p.Ile1193Met","NM_015011.1,NM_001198950.1","30,30","62.9729,63.406","MYO16,MYO16","NM_015011.1,NM_001198950.1","mRNA,mRNA","mRNA,mRNA","+,+","NP_055826.1,NP_001185879.1","NP_055826.1,NP_001185879.1","23026,23026","29822,29822","615479,615479","CCDS32008.1,CCDS73598.1",",","unconventional myosin-XVI isoform 2,unconventional myosin-XVI isoform 1",",","True","A/G/T","rs157024","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","79","SNV","0.8672,0.1328,","True","A/G","rs157024","EX_TARGET",19256,"665","0.132788",5008,581,42,"132","0.190202",694,112,10,"123","0.0930408",1322,109,7,"150","0.153374",978,136,7,"145","0.144135",1006,115,15,"115","0.114087",1008,109,3,"False"]
["13:110435231","C/T",null,"PASS","0.3","7,3",10,55,"0/1","IRS2","missense_variant","Missense","NM_003749.2","NM_003749.2:c.3170G>A","NP_003740.2:p.Gly1057Asp","NM_003749.2","1","78.8897","IRS2","NM_003749.2","mRNA","mRNA","-","NP_003740.2","NP_003740.2","8660","6126","600797","CCDS9510.1","02878","insulin receptor substrate 2",null,"True","C/T","rs1805097","RS orientation is reversed,Variant is Precious,Links exist to PubMed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),1000 Genome phase 1,1000 Genome phase 3,Submitted from a locus-specific database,Has OMIM/OMIA","89","SNV","0.7167,0.2833","True","C/T","rs1805097","EX_TARGET",7276,"1419","0.283347",5008,945,237,"285","0.410663",694,169,58,"124","0.0937973",1322,118,3,"296","0.302658",978,204,46,"318","0.316103",1006,212,53,"396","0.392857",1008,242,77,"False",{"$nulls":36},"C/T","8820","Other","Risk Factor","risk factor (1)","(0 Stars) No Assertion Criteria Provided","rs1805097","IRS2","8660","NC_000013.10:g.110435231C>T","NC_000013.11:g.109782884C>T","NM_003749.2:c.3170G>A","NP_003740.2:p.Gly1057Asp","RCV000009368","DIABETES, TYPE II, SUSCEPTIBILITY TO","Risk Factor","(0 Stars) No Assertion Criteria Provided","2001-10-01"]
["13:113752831","A/G",null,"PASS","0.155556","38,7",45,99,"0/1","MCF2L","3_prime_UTR_variant","Other","NM_001320815.1","NM_001320815.1:c.*1658A>G",null,"NM_001112732.2,NM_001320816.1,NM_001320815.1,NM_024979.4","30,30,31,30",",,,","MCF2L,MCF2L,MCF2L,MCF2L","NM_001112732.2,NM_001320816.1,NM_001320815.1,NM_024979.4","mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA","+,+,+,+","NP_001106203.2,NP_001307745.1,NP_001307744.1,NP_079255.4","NP_001106203.2,NP_001307745.1,NP_001307744.1,NP_079255.4","23263,23263,23263,23263","14576,14576,14576,14576","609499,609499,609499,609499","CCDS45070.2,,,CCDS9527.3",",,,","guanine nucleotide exchange factor DBS isoform a,guanine nucleotide exchange factor DBS isoform d,guanine nucleotide exchange factor DBS isoform c precursor,guanine nucleotide exchange factor DBS isoform b precursor",",,,","True","A/G","rs10665","Variant is Precious,Links exist to PubMed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3,Microattribution/third-party annotation(TPA:GWAS,PAGE)","52","SNV","0.8584,0.1416","True","A/G","rs10665",null,20200,"709","0.141573",5008,573,68,"79","0.113833",694,73,3,"179","0.135401",1322,151,14,"295","0.301636",978,217,39,"122","0.121272",1006,98,12,"34","0.0337302",1008,34,0,"False"]
["14:75600697","C/T",null,"SOR3","0.833333","1,5",6,22,"0/1","TMED10","3_prime_UTR_variant","Other","NM_006827.5","NM_006827.5:c.*891G>A",null,"NM_006827.5","5",null,"TMED10","NM_006827.5","mRNA","mRNA","-","NP_006818.3","NP_006818.3","10972","16998","605406","CCDS9840.1",null,"transmembrane emp24 domain-containing protein 10 precursor",null,"True","C/T","rs4322591","Has SubmitterLinkOut,In 3' UTR,In 3' gene region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","111","SNV","0.4756,0.5244","True","C/T","rs4322591",null,20785,"2626","0.524361",5008,1030,798,"430","0.619597",694,140,145,"385","0.291225",1322,283,51,"459","0.469325",978,225,117,"506","0.502982",1006,252,127,"846","0.839286",1008,130,358,"False"]
["15:28566548","T/C",null,"FS60,SOR3","0.255474","102,35",137,99,"0/1","HERC2","missense_variant","Missense","NM_004667.5","NM_004667.5:c.32A>G","NP_004658.3:p.Gln11Arg","NM_004667.5","2","0.213719","HERC2","NM_004667.5","mRNA","mRNA","-","NP_004658.3","NP_004658.3","8924","4868","605837","CCDS10021.1",null,"E3 ubiquitin-protein ligase HERC2",null,"True","T/C","rs201990459","Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations","137","SNV",{"$nulls":36},"False"]
["15:32689130","T/G",null,"MQ40,SOR3","0.5","3,3",6,68,"0/1","GOLGA8K","missense_variant","Missense","NM_001282493.1","NM_001282493.1:c.865A>C","NP_001269422.1:p.Asn289His","NM_001282493.1","11","45.6418","GOLGA8K","NM_001282493.1","mRNA","mRNA","-","NP_001269422.1","NP_001269422.1","653125","38652",null,"CCDS61577.1",null,"golgin subfamily A member 8K",null,"True","T/G","rs369957455","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,In Intron,Is Assembly specific,Is Validated","138","SNV",{"$nulls":36},"False"]
["15:79058339","A/C",null,"PASS","0.0859375","117,11",128,86,"0/1","ADAMTS7","missense_variant","Missense","NM_014272.4","NM_014272.4:c.3914T>G","NP_055087.2:p.Val1305Gly","NM_014272.4","19","77.3167","ADAMTS7","NM_014272.4","mRNA","mRNA","-","NP_055087.2","NP_055087.2","11173","223","605009","CCDS32303.1","05422","A disintegrin and metalloproteinase with thrombospondin motifs 7 preproprotein",null,"True","A/C","rs199823022","Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations","137","SNV",{"$nulls":36},"False"]
["16:632283","G/A",null,"PASS","0.5","16,16",32,99,"0/1","PIGQ","missense_variant","Missense","NM_004204.3","NM_004204.3:c.1567G>A","NP_004195.2:p.Gly523Ser","NM_148920.2,NM_004204.3","10,10",",89.6907","PIGQ,PIGQ","NM_148920.2,NM_004204.3","mRNA,mRNA","mRNA,mRNA","+,+","NP_683721.1,NP_004195.2","NP_683721.1,NP_004195.2","9091,9091","14135,14135","605754,605754","CCDS10411.1,CCDS10412.1","09307,09307","phosphatidylinositol N-acetylglucosaminyltransferase subunit Q isoform 1,phosphatidylinositol N-acetylglucosaminyltransferase subunit Q isoform 2",",","True","G/A","rs7187227","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","116","SNV","0.861,0.139","True","G/A","rs7187227","EX_TARGET",17264,"696","0.138978",5008,560,68,"55","0.0792507",694,53,1,"182","0.13767",1322,160,11,"253","0.258691",978,181,36,"181","0.17992",1006,143,19,"25","0.0248016",1008,23,1,"True","esv3637579;esv3637580,esv3637579;esv3637580","Loss,Gain","<CN0>,<CN2>","DUP_gs,DUP_gs","EX_TARGET,EX_TARGET","14685,14685","1,28","0.000199681,0.00559105","5008,5008","1,28","0,0","0,8","0,0.0115274","694,694","0,8","0,0","0,3","0,0.00226929","1322,1322","0,3","0,0","0,3","0,0.00306748","978,978","0,3","0,0","0,3","0,0.00298211","1006,1006","0,3","0,0","1,11","0.000992064,0.0109127","1008,1008","1,11","0,0"]
["16:722331","C/T",null,"PASS","0.511111","22,23",45,99,"0/1","RHOT2","missense_variant","Missense","NM_138769.2","NM_138769.2:c.1273C>T","NP_620124.1:p.Arg425Cys","NM_138769.2","15","68.4976","RHOT2","NM_138769.2","mRNA","mRNA","+","NP_620124.1","NP_620124.1","89941","21169","613889","CCDS10417.1","15248","mitochondrial Rho GTPase 2",null,"True","C/T","rs3177338","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","105","SNV","0.3315,0.6685","True","C/T","rs3177338","EX_TARGET",18089,"3348","0.66853",5008,838,1255,"396","0.570605",694,138,129,"1034","0.782148",1322,224,405,"540","0.552147",978,234,153,"381","0.378728",1006,233,74,"997","0.989087",1008,9,494,"False"]
["16:1279732","C/A",null,"PASS","0.552846","55,68",123,99,"0/1","TPSB2","missense_variant","Missense","NM_024164.5","NM_024164.5:c.68G>T","NP_077078.5:p.Gly23Val","NM_024164.5","3","8.09179","TPSB2","NM_024164.5","mRNA","mRNA","-","NP_077078.5","NP_077078.5","64499","14120","191081",null,null,"tryptase beta-2 preproprotein",null,"True","C/A","rs201836020","Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated","137","SNV",{"$nulls":36},"False",{"$nulls":36},"C/A","403562","Benign","Benign","Benign (1)","(1 Stars) Criteria Provided, Single Submitter","rs201836020","TPSB2","64499","NC_000016.9:g.1279732C>A","NC_000016.10:g.1229731C>A","NM_024164.5:c.68G>T","NP_077078.5:p.Gly23Val","RCV000454387","not specified","Benign","(1 Stars) Criteria Provided, Single Submitter","2016-03-29"]
["16:1374818","A/G",null,"PASS","0.457831","45,38",83,99,"0/1","UBE2I","3_prime_UTR_variant","Other","NM_003345.4","NM_003345.4:c.*24A>G",null,"NM_194260.2,NM_194261.2,NM_003345.4,NM_194259.2","7,7,7,8",",,,","UBE2I,UBE2I,UBE2I,UBE2I","NM_194260.2,NM_194261.2,NM_003345.4,NM_194259.2","mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA","+,+,+,+","NP_919236.1,NP_919237.1,NP_003336.1,NP_919235.1","NP_919236.1,NP_919237.1,NP_003336.1,NP_919235.1","7329,7329,7329,7329","12485,12485,12485,12485","601661,601661,601661,601661","CCDS10433.1,CCDS10433.1,CCDS10433.1,CCDS10433.1","09045,09045,09045,09045","SUMO-conjugating enzyme UBC9,SUMO-conjugating enzyme UBC9,SUMO-conjugating enzyme UBC9,SUMO-conjugating enzyme UBC9",",,,","True","A/G","rs8063","Variant is Precious,Links exist to PubMed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","52","SNV","0.3367,0.6633","True","A/G","rs8063","EX_TARGET",16999,"3322","0.663339",5008,890,1216,"456","0.657061",694,150,153,"460","0.347958",1322,316,72,"726","0.742331",978,178,274,"719","0.714712",1006,201,259,"961","0.953373",1008,45,458,"False"]
["16:1912021","T/G",null,"PASS","0.482014","72,67",139,99,"0/1","MEIOB","missense_variant","Missense","NM_001163560.2","NM_001163560.2:c.224A>C","NP_001157032.1:p.Lys75Thr","NM_001163560.2,NM_152764.2","4,4","15.7486,16.7795","MEIOB,MEIOB","NM_001163560.2,NM_152764.2","mRNA,mRNA","mRNA,mRNA","-,-","NP_001157032.1,NP_689977.2","NP_001157032.1,NP_689977.2","254528,254528","28569,28569",",","CCDS53983.1,CCDS10449.2",",","meiosis-specific with OB domain-containing protein isoform 1,meiosis-specific with OB domain-containing protein isoform 2",",","True","T/G","rs1657125","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,In 5' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","89","SNV","0.8329,0.1671","True","T/G","rs1657125",null,18060,"837","0.167133",5008,659,89,"69","0.0994236",694,61,4,"219","0.165658",1322,185,17,"173","0.176892",978,133,20,"132","0.131213",1006,104,14,"244","0.242063",1008,176,34,"False"]
["16:2263516","A/G",null,"PASS","0.610619","44,69",113,99,"0/1","PGP","3_prime_UTR_variant","Other","NM_001042371.2","NM_001042371.2:c.*213T>C",null,"NM_001042371.2","2",null,"PGP","NM_001042371.2","mRNA","mRNA","-","NP_001035830.1","NP_001035830.1","283871","8909","172280","CCDS42104.1",null,"glycerol-3-phosphate phosphatase",null,"True","A/G","rs26848","RS orientation is reversed,Has SubmitterLinkOut,In 3' UTR,In 5' UTR,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","76","SNV","0.6286,0.3714","True","A/G","rs26848",null,18256,"1860","0.371406",5008,950,455,"310","0.446686",694,154,78,"96","0.0726172",1322,92,2,"477","0.48773",978,217,130,"437","0.434394",1006,245,96,"540","0.535714",1008,242,149,"False"]
["16:2979640","T/C",null,"PASS","0.649351","27,50",77,99,"0/1","FLYWCH1","5_prime_UTR_variant","Other","NM_001308068.1","NM_001308068.1:c.-47T>C",null,"NM_020912.1,NM_032296.2,NM_001308068.1","3,3,3",",,","FLYWCH1,FLYWCH1,FLYWCH1","NM_020912.1,NM_032296.2,NM_001308068.1","mRNA,mRNA,mRNA","mRNA,mRNA,mRNA","+,+,+","NP_065963.1,NP_115672.2,NP_001294997.1","NP_065963.1,NP_115672.2,NP_001294997.1","84256,84256,84256","25404,25404,25404",",,",",CCDS45390.1,CCDS76809.1","13222,13222,13222","FLYWCH-type zinc finger-containing protein 1 isoform b,FLYWCH-type zinc finger-containing protein 1 isoform a,FLYWCH-type zinc finger-containing protein 1 isoform c",",,","True","T/C","rs11644380","Has SubmitterLinkOut,In 5' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","120","SNV","0.7192,0.2808","True","T/C","rs11644380",null,19151,"1406","0.280751",5008,944,231,"264","0.380403",694,170,47,"482","0.364599",1322,304,89,"176","0.179959",978,142,17,"386","0.383698",1006,238,74,"98","0.0972222",1008,90,4,"True","esv3637641,esv3637643","Loss,Loss","<CN0>,<CN0>","DEL_union,DEL_union","EX_TARGET,EX_TARGET","9804,17928","1,2","0.000199681,0.000399361","5008,5008","1,2","0,0","0,0","0,0","694,694","0,0","0,0","0,0","0,0","1322,1322","0,0","0,0","1,1","0.00102249,0.00102249","978,978","1,1","0,0","0,1","0,0.000994036","1006,1006","0,1","0,0","0,0","0,0","1008,1008","0,0","0,0"]
["16:5094706","A/G",null,"PASS","0.464286","15,13",28,99,"0/1","C16orf89","missense_variant","Missense","NM_152459.4","NM_152459.4:c.1087T>C","NP_689672.4:p.Tyr363His","NM_001098514.2,NM_152459.4","8,8",",89.8263","C16orf89,C16orf89","NM_001098514.2,NM_152459.4","mRNA,mRNA","mRNA,mRNA","-,-","NP_001091984.2,NP_689672.4","NP_001091984.2,NP_689672.4","146556,146556","28687,28687",",","CCDS45404.2,CCDS42116.2",",","UPF0764 protein C16orf89 isoform 2 precursor,UPF0764 protein C16orf89 isoform 1 precursor",",","True","A/G","rs11642955","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","120","SNV","0.7274,0.2726","True","A/G","rs11642955",null,17313,"1365","0.272564",5008,835,265,"270","0.389049",694,142,64,"45","0.0340393",1322,41,2,"350","0.357873",978,234,58,"235","0.233598",1006,163,36,"465","0.46131",1008,255,105,"True","esv3637713,esv3637714","Gain,Gain","<CN2>,<CN2>","DUP_gs,DUP_uwash","EX_TARGET,EX_TARGET","12475,10103","1,1","0.000199681,0.000199681","5008,5008","1,1","0,0","0,0","0,0","694,694","0,0","0,0","1,1","0.00075643,0.00075643","1322,1322","1,1","0,0","0,0","0,0","978,978","0,0","0,0","0,0","0,0","1006,1006","0,0","0,0","0,0","0,0","1008,1008","0,0","0,0"]
["16:11023208","T/C",null,"PASS","0.477612","35,32",67,99,"0/1","DEXI","3_prime_UTR_variant","Other","NM_014015.3","NM_014015.3:c.*358A>G",null,"NM_014015.3","2",null,"DEXI","NM_014015.3","mRNA","mRNA","-","NP_054734.2","NP_054734.2","28955","13267",null,"CCDS10545.1","16798","dexamethasone-induced protein",null,"True","T/C","rs3087519","Variant is Precious,Links exist to PubMed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","102","SNV","0.5631,0.4369","True","T/C","rs3087519",null,20979,"2188","0.436901",5008,1010,589,"432","0.622478",694,154,139,"184","0.139183",1322,154,15,"458","0.468303",978,230,114,"547","0.543738",1006,253,147,"567","0.5625",1008,219,174,"False"]
["16:14989420","C/T",null,"PASS","0.216606","217,60",277,99,"0/1","NOMO1","missense_variant","Missense","NM_014287.3","NM_014287.3:c.3587C>T","NP_055102.3:p.Ala1196Val","NM_014287.3","31","97.7378","NOMO1","NM_014287.3","mRNA","mRNA","+","NP_055102.3","NP_055102.3","23420","30060","609157","CCDS10556.1","11398","nodal modulator 1 precursor",null,"True","C/T","rs3895684","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1","108","SNV",{"$nulls":36},"False"]
["16:19509333","C/T",null,"PASS","0.475","42,38",80,99,"0/1","TMC5","3_prime_UTR_variant","Other","NM_001105248.1","NM_001105248.1:c.*45C>T",null,"NM_001308161.1,NM_001105248.1,NM_001105249.1,NM_001261841.1,NM_024780.4","21,22,21,22,18",",,,,","TMC5,TMC5,TMC5,TMC5,TMC5","NM_001308161.1,NM_001105248.1,NM_001105249.1,NM_001261841.1,NM_024780.4","mRNA,mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA,mRNA","+,+,+,+,+","NP_001295090.1,NP_001098718.1,NP_001098719.1,NP_001248770.1,NP_079056.2","NP_001295090.1,NP_001098718.1,NP_001098719.1,NP_001248770.1,NP_079056.2","79838,79838,79838,79838,79838","22999,22999,22999,22999,22999","617197,617197,617197,617197,617197","CCDS76837.1,CCDS45431.1,CCDS42126.1,CCDS45431.1,CCDS10577.1","15516,15516,15516,15516,15516","transmembrane channel-like protein 5 isoform d,transmembrane channel-like protein 5 isoform a,transmembrane channel-like protein 5 isoform b,transmembrane channel-like protein 5 isoform a,transmembrane channel-like protein 5 isoform c",",,,,","True","C/T","rs2245086","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","100","SNV","0.1298,0.8702","True","C/T","rs2245086",null,19104,"4358","0.870208",5008,546,1906,"573","0.825648",694,89,242,"1214","0.918306",1322,98,558,"873","0.892638",978,91,391,"846","0.840954",1006,138,354,"852","0.845238",1008,130,361,"False"]
["16:21162088","C/G",null,"QUAL30","0.285714","5,2",7,57,"0/1","DNAH3","5_prime_UTR_variant","Other","NM_017539.2","NM_017539.2:c.118-4679G>C",null,"NM_001347886.1,NM_017539.2","1,2",",","DNAH3,DNAH3","NM_001347886.1,NM_017539.2","mRNA,mRNA","mRNA,mRNA","-,-","NP_001334815.1,NP_060009.1","NP_001334815.1,NP_060009.1","55567,55567","2949,2949","603334,603334",",CCDS10594.1",",","dynein heavy chain 3, axonemal isoform 2,dynein heavy chain 3, axonemal isoform 1",",","True","C/G","rs56225843","Has SubmitterLinkOut,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","129","SNV","0.9147,0.08526","True","C/G","rs56225843",null,21135,"427","0.0852636",5008,379,24,"59","0.0850144",694,55,2,"11","0.00832073",1322,11,0,"97","0.099182",978,83,7,"145","0.144135",1006,129,8,"115","0.114087",1008,101,7,"False"]
["16:25248694","A/G",null,"PASS","0.428571","4,3",7,98,"0/1","ZKSCAN2","3_prime_UTR_variant","Other","NM_001012981.4","NM_001012981.4:c.*2443T>C",null,"NM_001012981.4","7",null,"ZKSCAN2","NM_001012981.4","mRNA","mRNA","-","NP_001012999.3","NP_001012999.3","342357","25677",null,"CCDS32410.1",null,"zinc finger protein with KRAB and SCAN domains 2",null,"True","A/G","rs2345122","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","100","SNV","0.405,0.595","True","A/G","rs2345122",null,22332,"2980","0.595048",5008,1066,957,"369","0.5317",694,157,106,"1110","0.839637",1322,174,468,"509","0.52045",978,247,131,"515","0.511928",1006,235,140,"477","0.473214",1008,253,112,"False"]
["16:30098141","G/A",null,"PASS","0.457143","38,32",70,99,"0/1","TBX6","missense_variant","Missense","NM_004608.3","NM_004608.3:c.871C>T","NP_004599.2:p.Arg291Trp","NM_004608.3","7","66.3616","TBX6","NM_004608.3","mRNA","mRNA","-","NP_004599.2","NP_004599.2","6911","11605","602427","CCDS10670.1","03888","T-box transcription factor TBX6",null,"True","G/A","rs144882405","Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated","134","SNV",{"$nulls":36},"False"]
["16:56966011","G/A",null,"PASS","0.128205","34,5",39,86,"0/1","HERPUD1","5_prime_UTR_variant","Other","NM_014685.3","NM_014685.3:c.-146G>A",null,"NM_014685.3,NM_001010989.2,NM_001272103.1","1,1,1",",,","HERPUD1,HERPUD1,HERPUD1","NM_014685.3,NM_001010989.2,NM_001272103.1","mRNA,mRNA,mRNA","mRNA,mRNA,mRNA","+,+,+","NP_055500.1,NP_001010989.1,NP_001259032.1","NP_055500.1,NP_001010989.1,NP_001259032.1","9709,9709,9709","13744,13744,13744","608070,608070,608070","CCDS10771.1,CCDS45492.1,",",,","homocysteine-responsive endoplasmic reticulum-resident ubiquitin-like domain member 1 protein isoform 1,homocysteine-responsive endoplasmic reticulum-resident ubiquitin-like domain member 1 protein isoform 2,homocysteine-responsive endoplasmic reticulum-resident ubiquitin-like domain member 1 protein isoform 4",",,","True","G/A","rs37025","RS orientation is reversed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,In 5' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","76","SNV","0.2412,0.7588","True","G/A","rs37025",null,13995,"3800","0.758786",5008,848,1476,"507","0.730548",694,143,182,"1248","0.944024",1322,58,595,"690","0.705521",978,204,243,"707","0.702783",1006,193,257,"648","0.642857",1008,250,199,"False"]
["16:58545785","C/T",null,"PASS","0.666667","31,62",93,99,"0/1","NDRG4","3_prime_UTR_variant","Other","NM_001130487.1","NM_001130487.1:c.*305C>T",null,"NM_020465.3,NM_001130487.1,NM_022910.3,NM_001242833.1,NM_001242835.1,NM_001242834.1,NM_001242836.1","16,16,16,15,15,14,14",",,,,,,","NDRG4,NDRG4,NDRG4,NDRG4,NDRG4,NDRG4,NDRG4","NM_020465.3,NM_001130487.1,NM_022910.3,NM_001242833.1,NM_001242835.1,NM_001242834.1,NM_001242836.1","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","+,+,+,+,+,+,+","NP_065198.1,NP_001123959.1,NP_075061.1,NP_001229762.1,NP_001229764.1,NP_001229763.1,NP_001229765.1","NP_065198.1,NP_001123959.1,NP_075061.1,NP_001229762.1,NP_001229764.1,NP_001229763.1,NP_001229765.1","65009,65009,65009,65009,65009,65009,65009","14466,14466,14466,14466,14466,14466,14466","614463,614463,614463,614463,614463,614463,614463","CCDS10797.1,CCDS45500.1,CCDS10797.1,CCDS55999.1,CCDS58466.1,CCDS58465.1,CCDS58467.1","14817,14817,14817,14817,14817,14817,14817","protein NDRG4 isoform 1,protein NDRG4 isoform 2,protein NDRG4 isoform 1,protein NDRG4 isoform 4,protein NDRG4 isoform 6,protein NDRG4 isoform 5,protein NDRG4 isoform 3",",,,,,,","True","C/A/T","rs3743566","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","107","SNV","0.5068,,0.4932","True","C/T","rs3743566",null,16966,"2470","0.493211",5008,1094,688,"207","0.298271",694,145,31,"961","0.726929",1322,243,359,"427","0.436605",978,231,98,"315","0.313121",1006,229,43,"560","0.555556",1008,246,157,"False"]
["16:69736851","G/A",null,"PASS","0.655405","51,97",148,99,"0/1","NFAT5","3_prime_UTR_variant","Other","NM_138713.3","NM_138713.3:c.*6597G>A",null,"NM_006599.3,NM_138713.3,NM_138714.3,NM_173214.2,NM_001113178.2","14,15,16,15,15",",,,,","NFAT5,NFAT5,NFAT5,NFAT5,NFAT5","NM_006599.3,NM_138713.3,NM_138714.3,NM_173214.2,NM_001113178.2","mRNA,mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA,mRNA","+,+,+,+,+","NP_006590.1,NP_619727.2,NP_619728.2,NP_775321.1,NP_001106649.1","NP_006590.1,NP_619727.2,NP_619728.2,NP_775321.1,NP_001106649.1","10725,10725,10725,10725,10725","7774,7774,7774,7774,7774","604708,604708,604708,604708,604708","CCDS10881.1,CCDS45518.1,CCDS10882.1,CCDS10882.1,CCDS45519.1",",,,,","nuclear factor of activated T-cells 5 isoform c,nuclear factor of activated T-cells 5 isoform b,nuclear factor of activated T-cells 5 isoform a,nuclear factor of activated T-cells 5 isoform a,nuclear factor of activated T-cells 5 isoform d",",,,,","True","G/A","rs12232410","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","120","SNV","0.6114,0.3886","True","G/A","rs12232410",null,19222,"1946","0.388578",5008,1152,397,"243","0.350144",694,159,42,"716","0.541604",1322,338,189,"350","0.357873",978,226,62,"214","0.212724",1006,164,25,"423","0.419643",1008,265,79,"True","esv3638928","Gain","<CN2>","DUP_uwash","EX_TARGET","19376","1","0.000199681","5008","1","0","0","0","694","0","0","0","0","1322","0","0","0","0","978","0","0","0","0","1006","0","0","1","0.000992064","1008","1","0"]
["16:70972595","T/C",null,"PASS","0.319672","83,39",122,99,"0/1","HYDIN","missense_variant","Missense","NM_001270974.2","NM_001270974.2:c.6917A>G","NP_001257903.1:p.Glu2306Gly","NM_001270974.2","44","45.0085","HYDIN","NM_001270974.2","mRNA","mRNA","-","NP_001257903.1","NP_001257903.1","54768","19368","610812","CCDS59269.1",null,"hydrocephalus-inducing protein homolog isoform a",null,"True","T/C","rs2502726","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","100","SNV","0.5461,0.4539","True","T/C","rs2502726","EX_TARGET",19914,"2273","0.453874",5008,1103,585,"319","0.459654",694,167,76,"271","0.204992",1322,213,29,"494","0.505112",978,252,121,"749","0.744533",1006,215,267,"440","0.436508",1008,256,92,"True","esv3638958;esv3638959,esv3638958;esv3638959","Gain,Gain","<CN2>,<CN3>","DUP_uwash,DUP_uwash","EX_TARGET,EX_TARGET","17602,17602","4998,9","0.998003,0.00179712","5008,5008","2,1","2498,4","694,0","1,0","694,694","0,0","347,0","1315,6","0.994705,0.00453858","1322,1322","1,0","657,3","976,2","0.997955,0.00204499","978,978","0,0","488,1","1005,1","0.999006,0.000994036","1006,1006","1,1","502,0","1008,0","1,0","1008,1008","0,0","504,0","T/C","402955","Benign","Benign","Benign (1)","(1 Stars) Criteria Provided, Single Submitter","rs2502726","HYDIN","54768","NC_000016.9:g.70972595T>C","NC_000016.10:g.70938692T>C","NM_001270974.2:c.6917A>G","NP_001257903.1:p.Glu2306Gly","RCV000456106","not specified","Benign","(1 Stars) Criteria Provided, Single Submitter","2016-03-28"]
["16:72003952","G/C",null,"PASS","0.64497","60,109",169,99,"0/1","PKD1L3","missense_variant","Missense","NM_181536.1","NM_181536.1:c.2006C>G","NP_853514.1:p.Thr669Ser","NM_181536.1","13","38.6097","PKD1L3","NM_181536.1","mRNA","mRNA","-","NP_853514.1","NP_853514.1","342372","21716","607895","CCDS73912.1","07436","polycystic kidney disease protein 1-like 3 precursor",null,"True","G/C","rs35259348","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","126","SNV","0.7654,0.2346","True","G/C","rs35259348",null,20861,"1175","0.234625",5008,807,184,"129","0.185879",694,115,7,"69","0.0521936",1322,63,3,"434","0.443763",978,238,98,"254","0.252485",1006,184,35,"289","0.286706",1008,207,41,"True","esv3638988","Loss","<CN0>","DEL_union",null,"17569","1","0.000199681","5008","1","0","0","0","694","0","0","0","0","1322","0","0","0","0","978","0","0","1","0.000994036","1006","1","0","0","0","1008","0","0"]
["16:74442881","C/G",null,"MQ40","0.2","148,37",185,99,"0/1","CLEC18B","3_prime_UTR_variant","Other","NM_001011880.2","NM_001011880.2:c.*23G>C",null,"NM_001011880.2","13",null,"CLEC18B","NM_001011880.2","mRNA","mRNA","-","NP_001011880.2","NP_001011880.2","497190","33849","616572","CCDS32484.1",null,"C-type lectin domain family 18 member B precursor",null,"True","C/G/T","rs710960","Has SubmitterLinkOut,In 3' UTR,In 5' gene region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,1000 Genome phase 1","86","SNV",{"$nulls":36},"False"]
["16:77233445","C/T",null,"PASS","0.338583","84,43",127,99,"0/1","MON1B,SYCE1L","3_prime_UTR_variant","Other","NM_014940.3,NM_001129979.1","NM_014940.3:c.*1240C>T,NM_001129979.1:c.61+36C>T",",","NM_014940.3,NM_001286640.1,NM_001286639.1,NM_001129979.1","6,4,5,1",",,,","MON1B,MON1B,MON1B,SYCE1L","NM_014940.3,NM_001286640.1,NM_001286639.1,NM_001129979.1","mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA","+,+,+,+","NP_055755.1,NP_001273569.1,NP_001273568.1,NP_001123451.1","NP_055755.1,NP_001273569.1,NP_001273568.1,NP_001123451.1","22879,22879,22879,100130958","25020,25020,25020,37236","608954,608954,608954,","CCDS10925.1,CCDS67082.1,CCDS67083.1,CCDS45533.1",",,,","vacuolar fusion protein MON1 homolog B isoform 1,vacuolar fusion protein MON1 homolog B isoform 3,vacuolar fusion protein MON1 homolog B isoform 2,synaptonemal complex central element protein 1-like",",,,","True","C/T","rs11544783","RS orientation is reversed,Has SubmitterLinkOut,In 3' UTR,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),1000 Genome phase 1,1000 Genome phase 3","120","SNV","0.9637,0.03634","True","C/T","rs11544783",null,16470,"182","0.0363419",5008,166,8,"19","0.0273775",694,19,0,"83","0.0627837",1322,71,6,"40","0.0408998",978,36,2,"23","0.0228628",1006,23,0,"17","0.0168651",1008,17,0,"False"]
["16:81301694","A/T",null,"PASS","0.287879","47,19",66,99,"0/1","BCO1","missense_variant","Missense","NM_017429.2","NM_017429.2:c.801A>T","NP_059125.2:p.Arg267Ser","NM_017429.2","6","48.6618","BCO1","NM_017429.2","mRNA","mRNA","+","NP_059125.2","NP_059125.2","53630","13815","605748","CCDS10934.1",null,"beta,beta-carotene 15,15'-dioxygenase",null,"True","A/T","rs12934922","Variant is Precious,Links exist to PubMed,Has 3D structure,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","121","SNV","0.7728,0.2272","True","A/T","rs12934922","EX_TARGET",20516,"1138","0.227236",5008,794,172,"222","0.319885",694,152,35,"118","0.0892587",1322,112,3,"226","0.231084",978,170,28,"443","0.440358",1006,241,101,"129","0.127976",1008,119,5,"False"]
["16:84036227","T/C",null,"PASS","0.5","3,3",6,85,"0/1","NECAB2","3_prime_UTR_variant","Other","NM_019065.2","NM_019065.2:c.*276T>C",null,"NM_019065.2,NM_001329748.1,NM_001329749.1","13,12,12",",,","NECAB2,NECAB2,NECAB2","NM_019065.2,NM_001329748.1,NM_001329749.1","mRNA,mRNA,mRNA","mRNA,mRNA,mRNA","+,+,+","NP_061938.2,NP_001316677.1,NP_001316678.1","NP_061938.2,NP_001316677.1,NP_001316678.1","54550,54550,54550","23746,23746,23746",",,","CCDS10940.1,,CCDS82019.1",",,","N-terminal EF-hand calcium-binding protein 2 isoform 1,N-terminal EF-hand calcium-binding protein 2 isoform 2,N-terminal EF-hand calcium-binding protein 2 isoform 3",",,","True","T/C","rs2280027","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","100","SNV","0.405,0.595","True","T/C","rs2280027",null,17328,"2980","0.595048",5008,964,1008,"385","0.554755",694,167,109,"1226","0.927383",1322,84,571,"376","0.384458",978,230,73,"574","0.570577",1006,232,171,"419","0.415675",1008,251,84,"True","esv3639405","Loss","<CN0>","DEL_union","EX_TARGET","8937","1","0.000199681","5008","1","0","1","0.00144092","694","1","0","0","0","1322","0","0","0","0","978","0","0","0","0","1006","0","0","0","0","1008","0","0"]
["16:85009291","T/C",null,"PASS","0.680556","46,98",144,99,"0/1","ZDHHC7","3_prime_UTR_variant","Other","NM_001145548.1","NM_001145548.1:c.*658A>G",null,"NM_017740.2,NM_001145548.1","8,9",",","ZDHHC7,ZDHHC7","NM_017740.2,NM_001145548.1","mRNA,mRNA","mRNA,mRNA","-,-","NP_060210.2,NP_001139020.1","NP_060210.2,NP_001139020.1","55625,55625","18459,18459","614604,614604","CCDS10950.1,CCDS45538.1",",","palmitoyltransferase ZDHHC7 isoform 2,palmitoyltransferase ZDHHC7 isoform 1",",","True","T/C","rs3203780","RS orientation is reversed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","105","SNV","0.7686,0.2314","True","T/C","rs3203780",null,18391,"1159","0.23143",5008,785,187,"142","0.204611",694,100,21,"556","0.420575",1322,296,130,"146","0.149284",978,132,7,"221","0.219682",1006,171,25,"94","0.093254",1008,86,4,"False"]
["16:88964557","C/G",null,"PASS","0.5375","37,43",80,99,"0/1","CBFA2T3","missense_variant","Missense","NM_005187.5","NM_005187.5:c.308G>C","NP_005178.4:p.Arg103Pro","NM_175931.2,NM_005187.5","2,3",",15.6473","CBFA2T3,CBFA2T3","NM_175931.2,NM_005187.5","mRNA,mRNA","mRNA,mRNA","-,-","NP_787127.1,NP_005178.4","NP_787127.1,NP_005178.4","863,863","1537,1537","603870,603870","CCDS10973.1,CCDS10972.1","04847,04847","protein CBFA2T3 isoform 2,protein CBFA2T3 isoform 1",",","True","C/G","rs61734177","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","129","SNV","0.971,0.02895","True","C/G","rs61734177","EX_TARGET",16134,"145","0.0289537",5008,133,6,"19","0.0273775",694,19,0,"11","0.00832073",1322,11,0,"29","0.0296524",978,27,1,"86","0.0854871",1006,76,5,"0","0",1008,0,0,"True","esv3639555","Gain","<CN2>","DUP_uwash","EX_TARGET","15273","1","0.000199681","5008","1","0","0","0","694","0","0","1","0.00075643","1322","1","0","0","0","978","0","0","0","0","1006","0","0","0","0","1008","0","0"]
["16:90076484","C/T",null,"PASS","0.689076","37,82",119,99,"0/1","DBNDD1","5_prime_UTR_variant","Other","NM_001288709.1","NM_001288709.1:c.392-646G>A",null,"NM_024043.3,NM_001042610.2,NM_001288709.1,NM_001288708.1","1,2,2,3",",,,","DBNDD1,DBNDD1,DBNDD1,DBNDD1","NM_024043.3,NM_001042610.2,NM_001288709.1,NM_001288708.1","mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA","-,-,-,-","NP_076948.2,NP_001036075.1,NP_001275638.1,NP_001275637.1","NP_076948.2,NP_001036075.1,NP_001275638.1,NP_001275637.1","79007,79007,79007,79007","28455,28455,28455,28455",",,,","CCDS10991.2,CCDS42223.1,CCDS73931.1,",",,,","dysbindin domain-containing protein 1 isoform 2,dysbindin domain-containing protein 1 isoform 1,dysbindin domain-containing protein 1 isoform 4,dysbindin domain-containing protein 1 isoform 3",",,,","True","C/T","rs149716164","Has SubmitterLinkOut,In 5' UTR,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,1000 Genome phase 1,1000 Genome phase 3","134","SNV","0.9631,0.03694","True","C/T","rs149716164",null,16404,"185","0.0369409",5008,171,7,"17","0.0244957",694,17,0,"4","0.00302572",1322,4,0,"126","0.128834",978,114,6,"36","0.0357853",1006,34,1,"2","0.00198413",1008,2,0,"True","esv3639603","Gain","<CN2>","DUP_gs","EX_TARGET","19184","1","0.000199681","5008","1","0","0","0","694","0","0","1","0.00075643","1322","1","0","0","0","978","0","0","0","0","1006","0","0","0","0","1008","0","0"]
["17:7190439","T/C",null,"PASS","0.6","4,6",10,67,"0/1","SLC2A4","3_prime_UTR_variant","Other","NM_001042.2","NM_001042.2:c.*491T>C",null,"NM_001042.2","11",null,"SLC2A4","NM_001042.2","mRNA","mRNA","+","NP_001033.1","NP_001033.1","6517","11009","138190","CCDS11097.1","00688","solute carrier family 2, facilitated glucose transporter member 4",null,"False",{"$nulls":41},"True","esv3639863","Loss","<CN0>","DEL_union","EX_TARGET","19319","2","0.000399361","5008","2","0","0","0","694","0","0","1","0.00075643","1322","1","0","0","0","978","0","0","1","0.000994036","1006","1","0","0","0","1008","0","0"]
["17:20768304","C/T",null,"SOR3","0.333333","2,1",3,31,"0/1","CCDC144NL","3_prime_UTR_variant","Other","NM_001004306.2","NM_001004306.2:c.*424G>A",null,"NM_001004306.2","4",null,"CCDC144NL","NM_001004306.2","mRNA","mRNA","-","NP_001004306.1","NP_001004306.1","339184","33735",null,"CCDS32591.1","17572","putative coiled-coil domain-containing protein 144 N-terminal-like",null,"True","C/G/T","rs74333266","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,Genotypes available,1000 Genome phase 3","131","SNV","0.9986,0.001398,","True",{"$nulls":34},"True","esv3640216","Loss","<CN0>","DEL_union","EX_TARGET","16266","1","0.000199681","5008","1","0","0","0","694","0","0","1","0.00075643","1322","1","0","0","0","978","0","0","0","0","1006","0","0","0","0","1008","0","0"]
["17:21207813","T/G",null,"SOR3","0.125926","118,17",135,99,"0/1","MAP2K3","missense_variant","Missense","NM_145109.2","NM_145109.2:c.644T>G","NP_659731.1:p.Leu215Trp","NM_145109.2,NM_001316332.1,NM_002756.4","8,9,8","61.59,58.0982,58.0982","MAP2K3,MAP2K3,MAP2K3","NM_145109.2,NM_001316332.1,NM_002756.4","mRNA,mRNA,mRNA","mRNA,mRNA,mRNA","+,+,+","NP_659731.1,NP_001303261.1,NP_002747.2","NP_659731.1,NP_001303261.1,NP_002747.2","5606,5606,5606","6843,6843,6843","602315,602315,602315","CCDS11217.1,CCDS11218.1,CCDS11218.1",",,","dual specificity mitogen-activated protein kinase kinase 3 isoform B,dual specificity mitogen-activated protein kinase kinase 3 isoform A,dual specificity mitogen-activated protein kinase kinase 3 isoform A",",,","True","T/G","rs74575904","Has 3D structure,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available","131","SNV",{"$nulls":36},"False",{"$nulls":36},"T/G","218844","Uncertain Significance","Uncertain Significance","Uncertain significance (1)","(1 Stars) Criteria Provided, Single Submitter","rs74575904","MAP2K3","5606","NC_000017.10:g.21207813T>G","NC_000017.11:g.21304501T>G","NM_145109.2:c.644T>G","NP_659731.1:p.Leu215Trp","RCV000203042","not specified","Uncertain Significance","(1 Stars) Criteria Provided, Single Submitter","2015-03-25"]
["17:21218498","G/T",null,"PASS","0.4","3,2",5,64,"0/1","MAP2K3","3_prime_UTR_variant","Other","NM_145109.2","NM_145109.2:c.*956G>T",null,"NM_145109.2,NM_001316332.1,NM_002756.4","12,13,12",",,","MAP2K3,MAP2K3,MAP2K3","NM_145109.2,NM_001316332.1,NM_002756.4","mRNA,mRNA,mRNA","mRNA,mRNA,mRNA","+,+,+","NP_659731.1,NP_001303261.1,NP_002747.2","NP_659731.1,NP_001303261.1,NP_002747.2","5606,5606,5606","6843,6843,6843","602315,602315,602315","CCDS11217.1,CCDS11218.1,CCDS11218.1",",,","dual specificity mitogen-activated protein kinase kinase 3 isoform B,dual specificity mitogen-activated protein kinase kinase 3 isoform A,dual specificity mitogen-activated protein kinase kinase 3 isoform A",",,","True","G/T","rs62055368","Variant is Precious,Links exist to PubMed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Genotypes available,1000 Genome phase 3","129","SNV","0.9998,0.0001997","False","G/T","rs62055368",null,13483,"1","0.000199681",5008,1,0,"0","0",694,0,0,"0","0",1322,0,0,"1","0.00102249",978,1,0,"0","0",1006,0,0,"0","0",1008,0,0,"False"]
["17:21319436","G/A",null,"PASS","0.268293","180,66",246,99,"0/1","KCNJ12","missense_variant","Missense","NM_021012.4","NM_021012.4:c.782G>A","NP_066292.2:p.Arg261His","NM_021012.4","3","59.9846","KCNJ12","NM_021012.4","mRNA","mRNA","+","NP_066292.2","NP_066292.2","3768","6258","602323","CCDS11219.1","09083","ATP-sensitive inward rectifier potassium channel 12",null,"True","G/A","rs77270326","Has 3D structure,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available","131","SNV",{"$nulls":36},"False"]
["17:21320436","T/C",null,"PASS","0.29771","92,39",131,99,"0/1","KCNJ12","3_prime_UTR_variant","Other","NM_021012.4","NM_021012.4:c.*480T>C",null,"NM_021012.4","3",null,"KCNJ12","NM_021012.4","mRNA","mRNA","+","NP_066292.2","NP_066292.2","3768","6258","602323","CCDS11219.1","09083","ATP-sensitive inward rectifier potassium channel 12",null,"True","T/C","rs111237557","In 3' UTR,Is Assembly specific,Is Validated,Genotypes available","132","SNV",{"$nulls":36},"False"]
["17:21321252","C/T",null,"PASS","0.298246","80,34",114,99,"0/1","KCNJ12","3_prime_UTR_variant","Other","NM_021012.4","NM_021012.4:c.*1296C>T",null,"NM_021012.4","3",null,"KCNJ12","NM_021012.4","mRNA","mRNA","+","NP_066292.2","NP_066292.2","3768","6258","602323","CCDS11219.1","09083","ATP-sensitive inward rectifier potassium channel 12",null,"True","C/T","rs77231477","In 3' UTR,Is Assembly specific,Genotypes available","131","SNV",{"$nulls":36},"True","esv3640232","Loss","<CN0>","DEL_union",null,"28438","3","0.000599042","5008","3","0","0","0","694","0","0","1","0.00075643","1322","1","0","2","0.00204499","978","2","0","0","0","1006","0","0","0","0","1008","0","0"]
["17:27438469","G/A",null,"PASS","0.657143","36,69",105,99,"0/1","MYO18A","missense_variant","Missense","NM_001346765.1","NM_001346765.1:c.2930C>T","NP_001333694.1:p.Ala977Val","NM_001346768.1,NM_001346767.1,NM_001346765.1,NM_001346766.1,NM_078471.3,NM_203318.1","17,17,19,18,17,17","31.5634,47.795,47.4178,47.2385,46.5856,46.9281","MYO18A,MYO18A,MYO18A,MYO18A,MYO18A,MYO18A","NM_001346768.1,NM_001346767.1,NM_001346765.1,NM_001346766.1,NM_078471.3,NM_203318.1","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","-,-,-,-,-,-","NP_001333697.1,NP_001333696.1,NP_001333694.1,NP_001333695.1,NP_510880.2,NP_976063.1","NP_001333697.1,NP_001333696.1,NP_001333694.1,NP_001333695.1,NP_510880.2,NP_976063.1","399687,399687,399687,399687,399687,399687","31104,31104,31104,31104,31104,31104","610067,610067,610067,610067,610067,610067",",,,,CCDS45642.1,CCDS45641.1",",,,,,","unconventional myosin-XVIIIa isoform f,unconventional myosin-XVIIIa isoform e,unconventional myosin-XVIIIa isoform c,unconventional myosin-XVIIIa isoform d,unconventional myosin-XVIIIa isoform a,unconventional myosin-XVIIIa isoform b",",,,,,","True","G/A","rs8076604","Variant is Precious,Links exist to PubMed,Has 3D structure,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","116","SNV","0.4716,0.5284","True","G/A","rs8076604","EX_TARGET",15915,"2646","0.528355",5008,1096,775,"285","0.410663",694,173,56,"530","0.400908",1322,306,112,"502","0.513292",978,258,122,"455","0.452286",1006,247,104,"874","0.867063",1008,112,381,"False"]
["17:27959903","G/A",null,"PASS","0.715789","27,68",95,99,"0/1","SSH2","missense_variant","Missense","NM_001282129.1","NM_001282129.1:c.2309C>T","NP_001269058.1:p.Ser770Leu","NM_033389.3,NM_001282129.1","15,16","52.1301,53.0209","SSH2,SSH2","NM_033389.3,NM_001282129.1","mRNA,mRNA","mRNA,mRNA","-,-","NP_203747.2,NP_001269058.1","NP_203747.2,NP_001269058.1","85464,85464","30580,30580","606779,606779","CCDS11253.1,CCDS74024.1",",","protein phosphatase Slingshot homolog 2 isoform 2,protein phosphatase Slingshot homolog 2 isoform 1",",","True","G/A","rs2289629","RS orientation is reversed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","100","SNV","0.8153,0.1847","True","G/A","rs2289629","EX_TARGET",22841,"925","0.184704",5008,703,111,"207","0.298271",694,147,30,"138","0.104387",1322,120,9,"166","0.169734",978,136,15,"337","0.33499",1006,225,56,"77","0.0763889",1008,75,1,"False"]
["17:36925483","C/T",null,"PASS","0.652174","8,15",23,99,"0/1","PIP4K2B","3_prime_UTR_variant","Other","NM_003559.4","NM_003559.4:c.*461G>A",null,"NM_003559.4","10",null,"PIP4K2B","NM_003559.4","mRNA","mRNA","-","NP_003550.1","NP_003550.1","8396","8998","603261","CCDS11329.1","04463","phosphatidylinositol 5-phosphate 4-kinase type-2 beta",null,"True","C/T","rs228287","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","79","SNV","0.6174,0.3826","True","C/T","rs228287",null,18093,"1916","0.382588",5008,1110,403,"230","0.331412",694,154,38,"661","0.5",1322,335,163,"486","0.496933",978,240,123,"209","0.207753",1006,179,15,"330","0.327381",1008,202,64,"False"]
["17:38975328","G/A",null,"PASS","0.354839","100,55",155,99,"0/1","KRT10","missense_variant","Missense","NM_000421.3","NM_000421.3:c.1459C>T","NP_000412.3:p.His487Tyr","NM_000421.3","7","83.0769","KRT10","NM_000421.3","mRNA","mRNA","-","NP_000412.3","NP_000412.3","3858","6413","148080","CCDS11377.1",null,"keratin, type I cytoskeletal 10",null,"True","G/A","rs17855579","Variant is Precious,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,In 5' gene region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3,Submitted from a locus-specific database","123","SNV","0.3029,0.6971","True","G/A","rs17855579","EX_TARGET",5036,"3491","0.697085",5008,909,1291,"397","0.572046",694,151,123,"1225","0.926626",1322,87,569,"700","0.715746",978,204,248,"700","0.695825",1006,210,245,"469","0.465278",1008,257,106,"False"]
["17:39253685","A/C",null,"PASS","0.653595","53,100",153,99,"0/1","KRTAP4-8","3_prime_UTR_variant","Other","NM_031960.2","NM_031960.2:c.*94T>G",null,"NM_031960.2","1",null,"KRTAP4-8","NM_031960.2","mRNA","mRNA","-","NP_114166.1","NP_114166.1","728224","17230",null,"CCDS45674.1",null,"keratin-associated protein 4-8 isoform 1",null,"True","A/C","rs7212517","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","116","SNV","0.4357,0.5643","True","A/C","rs7212517",null,19095,"2826","0.564297",5008,1170,828,"425","0.612392",694,163,131,"865","0.654312",1322,313,276,"496","0.507157",978,228,134,"622","0.61829",1006,234,194,"418","0.414683",1008,232,93,"True","esv3640559,esv3640572,esv3640575;esv3640576,esv3640575;esv3640576","Gain,Loss,Loss,Gain","<CN2>,<CN0>,<CN0>,<CN2>","DUP_uwash,DEL_union,DUP_gs,DUP_gs","EX_TARGET","20473,14735,18954,18954","1,3,5,3","0.000199681,0.000599042,0.000998403,0.000599042","5008,5008,5008,5008","1,3,5,3","0,0,0,0","0,1,2,1","0,0.00144092,0.00288184,0.00144092","694,694,694,694","0,1,2,1","0,0,0,0","0,1,2,0","0,0.00075643,0.00151286,0","1322,1322,1322,1322","0,1,2,0","0,0,0,0","1,0,0,2","0.00102249,0,0,0.00204499","978,978,978,978","1,0,0,2","0,0,0,0","0,0,0,0","0,0,0,0","1006,1006,1006,1006","0,0,0,0","0,0,0,0","0,1,1,0","0,0.000992064,0.000992064,0","1008,1008,1008,1008","0,1,1,0","0,0,0,0"]
["17:39406582","G/T",null,"QD2,SOR3","0.118474","439,59",498,99,"0/1","KRTAP9-4","3_prime_UTR_variant","Other","NM_033191.2","NM_033191.2:c.*145G>T",null,"NM_033191.2","1",null,"KRTAP9-4","NM_033191.2","mRNA","mRNA","+","NP_149461.2","NP_149461.2","85280","18902",null,"CCDS11386.1","13951","keratin-associated protein 9-4",null,"True","G/T","rs185438683","In 3' UTR,In Intron,Is Assembly specific,1000 Genome phase 1","135","SNV",{"$nulls":36},"False"]
["17:45669359","T/G",null,"QD2","0.149351","262,46",308,99,"0/1","NPEPPS","missense_variant","Missense","NM_006310.3","NM_006310.3:c.1298T>G","NP_006301.3:p.Phe433Cys","NM_001330257.1,NM_006310.3","12,11","46.7613,46.9928","NPEPPS,NPEPPS","NM_001330257.1,NM_006310.3","mRNA,mRNA","mRNA,mRNA","+,+","NP_001317186.1,NP_006301.3","NP_001317186.1,NP_006301.3","9520,9520","7900,7900","606793,606793","CCDS82149.1,CCDS45721.1",",","puromycin-sensitive aminopeptidase isoform 2,puromycin-sensitive aminopeptidase isoform 1",",","True","T/G","rs200616431","Has 3D structure,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations","137","SNV",{"$nulls":36},"False"]
["17:46629593","G/T",null,"PASS","0.360656","78,44",122,99,"0/1","HOXB3","missense_variant","Missense","NM_002146.4","NM_002146.4:c.244C>A","NP_002137.4:p.Pro82Thr","NM_002146.4,NM_001330323.1,NM_001330322.1","3,4,4","18.75,,2.22841","HOXB3,HOXB3,HOXB3","NM_002146.4,NM_001330323.1,NM_001330322.1","mRNA,mRNA,mRNA","mRNA,mRNA,mRNA","-,-,-","NP_002137.4,NP_001317252.1,NP_001317251.1","NP_002137.4,NP_001317252.1,NP_001317251.1","3213,3213,3213","5114,5114,5114","142966,142966,142966","CCDS11528.1,CCDS82153.1,CCDS82154.1",",,","homeobox protein Hox-B3 isoform 1,homeobox protein Hox-B3 isoform 3,homeobox protein Hox-B3 isoform 2",",,","True","G/T","rs2229304","RS orientation is reversed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","98","SNV","0.3966,0.6034","True","G/T","rs2229304","EX_TARGET",9482,"3022","0.603435",5008,1066,978,"458","0.659942",694,156,151,"471","0.356278",1322,295,88,"578","0.591002",978,242,168,"711","0.706759",1006,219,246,"804","0.797619",1008,154,325,"False"]
["17:48212910","A/G",null,"PASS","0.360656","78,44",122,99,"0/1","PPP1R9B","splice_region_variant","Other","NM_032595.4","NM_032595.4:c.2394+8T>C",null,"NM_032595.4","11",null,"PPP1R9B","NM_032595.4","mRNA","mRNA","-","NP_115984.3","NP_115984.3","84687","9298","603325","CCDS74102.1",null,"neurabin-2",null,"True","A/G","rs3744535","RS orientation is reversed,Has SubmitterLinkOut,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","107","SNV","0.6506,0.3494","True","A/G","rs3744535","EX_TARGET",12392,"1750","0.349441",5008,936,407,"229","0.329971",694,169,30,"888","0.67171",1322,292,298,"182","0.186094",978,152,15,"311","0.309145",1006,207,52,"140","0.138889",1008,116,12,"False"]
["17:49257780","A/C",null,"MQ40,SOR3","0.129032","27,4",31,99,"0/1","MBTD1","3_prime_UTR_variant","Other","NM_017643.2","NM_017643.2:c.*157T>G",null,"NM_017643.2","17",null,"MBTD1","NM_017643.2","mRNA","mRNA","-","NP_060113.2","NP_060113.2","54799","19866",null,"CCDS11581.2",null,"MBT domain-containing protein 1",null,"False",{"$nulls":41},"False"]
["17:58024324","A/G",null,"PASS","0.313953","118,54",172,99,"0/1","RPS6KB1","3_prime_UTR_variant","Other","NM_003161.3","NM_003161.3:c.*175A>G",null,"NM_001272042.1,NM_001272043.1,NM_001272060.1,NM_003161.3,NM_001272044.1","14,15,15,15,16",",,,,","RPS6KB1,RPS6KB1,RPS6KB1,RPS6KB1,RPS6KB1","NM_001272042.1,NM_001272043.1,NM_001272060.1,NM_003161.3,NM_001272044.1","mRNA,mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA,mRNA","+,+,+,+,+","NP_001258971.1,NP_001258972.1,NP_001258989.1,NP_003152.1,NP_001258973.1","NP_001258971.1,NP_001258972.1,NP_001258989.1,NP_003152.1,NP_001258973.1","6198,6198,6198,6198,6198","10436,10436,10436,10436,10436","608938,608938,608938,608938,608938","CCDS62272.1,CCDS62271.1,,CCDS11621.1,CCDS62273.1","10202,10202,10202,10202,10202","ribosomal protein S6 kinase beta-1 isoform b,ribosomal protein S6 kinase beta-1 isoform c,ribosomal protein S6 kinase beta-1 isoform e,ribosomal protein S6 kinase beta-1 isoform a,ribosomal protein S6 kinase beta-1 isoform d",",,,,","True","A/G","rs1051424","Variant is Precious,Links exist to PubMed,Has SubmitterLinkOut,In 3' UTR,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3,Microattribution/third-party annotation(TPA:GWAS,PAGE)","86","SNV","0.8199,0.1801","True","A/G","rs1051424",null,18532,"902","0.180112",5008,602,150,"87","0.12536",694,71,8,"13","0.00983359",1322,11,1,"230","0.235174",978,166,32,"155","0.154076",1006,131,12,"417","0.41369",1008,223,97,"False"]
["17:61904728","G/A",null,"PASS","0.694915","36,82",118,99,"0/1","FTSJ3","5_prime_UTR_variant","Other","NM_017647.3","NM_017647.3:c.-343C>T",null,"NM_017647.3","1",null,"FTSJ3","NM_017647.3","mRNA","mRNA","-","NP_060117.3","NP_060117.3","117246","17136",null,"CCDS11644.1",null,"pre-rRNA processing protein FTSJ3",null,"True","G/A","rs2727287","RS orientation is reversed,Has SubmitterLinkOut,In 5' UTR,In 5' gene region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","100","SNV","0.2758,0.7242","True","G/A","rs2727287",null,16199,"3627","0.724241",5008,911,1358,"469","0.675793",694,163,153,"1256","0.950076",1322,60,598,"740","0.756646",978,190,275,"602","0.59841",1006,240,181,"560","0.555556",1008,258,151,"False"]
["17:62492582","C/T",null,"PASS","0.367742","98,57",155,99,"0/1","POLG2","missense_variant","Missense","NM_007215.3","NM_007215.3:c.505G>A","NP_009146.2:p.Ala169Thr","NM_007215.3","1","34.5679","POLG2","NM_007215.3","mRNA","mRNA","-","NP_009146.2","NP_009146.2","11232","9180","604983","CCDS32706.1",null,"DNA polymerase subunit gamma-2, mitochondrial",null,"True","C/T","rs1427463","Variant is Precious,Has 3D structure,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3,Submitted from a locus-specific database","88","SNV","0.7105,0.2895","True","C/T","rs1427463","EX_TARGET",21332,"1450","0.289537",5008,540,455,"150","0.216138",694,116,17,"1062","0.803328",1322,214,424,"93","0.095092",978,83,5,"117","0.116302",1006,99,9,"28","0.0277778",1008,28,0,"False",{"$nulls":36},"C/T","138782","Benign","Benign","Benign (4)","(2 Stars) Criteria Provided, Multiple Submitters, No Conflicts","rs1427463","POLG2,MILR1","11232,284021","NC_000017.10:g.62492582C>T","NC_000017.11:g.64496464C>T","NM_007215.3:c.505G>A","NP_009146.2:p.Ala169Thr","RCV000127568,RCV000399594,RCV000676625","not specified,Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions,not provided","Benign,Benign,Benign","(2 Stars) Criteria Provided, Multiple Submitters, No Conflicts,(1 Stars) Criteria Provided, Single Submitter,(0 Stars) No Assertion Criteria Provided","2011-06-30,2016-06-14,2016-02-22"]
["17:66244088","T/C",null,"PASS","0.571429","6,8",14,99,"0/1","AMZ2","splice_donor_variant","LoF","NM_001346471.1","NM_001346471.1:c.1-2241T>C",null,"NM_001346480.1,NM_001346472.1,NM_001346473.1,NM_001346481.1,NM_001346471.1,NM_001346485.1,NM_001346475.1,NM_001346474.1","2,3,2,2,2,1,1,1",",,,,,,,","AMZ2,AMZ2,AMZ2,AMZ2,AMZ2,AMZ2,AMZ2,AMZ2","NM_001346480.1,NM_001346472.1,NM_001346473.1,NM_001346481.1,NM_001346471.1,NM_001346485.1,NM_001346475.1,NM_001346474.1","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","+,+,+,+,+,+,+,+","NP_001333409.1,NP_001333401.1,NP_001333402.1,NP_001333410.1,NP_001333400.1,NP_001333414.1,NP_001333404.1,NP_001333403.1","NP_001333409.1,NP_001333401.1,NP_001333402.1,NP_001333410.1,NP_001333400.1,NP_001333414.1,NP_001333404.1,NP_001333403.1","51321,51321,51321,51321,51321,51321,51321,51321","28041,28041,28041,28041,28041,28041,28041,28041","615169,615169,615169,615169,615169,615169,615169,615169",",,,,,,,",",,,,,,,","archaemetzincin-2 isoform 2,archaemetzincin-2 isoform 1,archaemetzincin-2 isoform 1,archaemetzincin-2 isoform 3,archaemetzincin-2 isoform 1,archaemetzincin-2 isoform 4,archaemetzincin-2 isoform 1,archaemetzincin-2 isoform 1",",,,,,,,","True","T/C","rs16972844","Has SubmitterLinkOut,In donor splice-site,In Intron,In 5' gene region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","123","SNV","0.7107,0.2893","True","T/C","rs16972844",null,10562,"1449","0.289337",5008,999,225,"232","0.334294",694,144,44,"473","0.357791",1322,315,79,"273","0.279141",978,195,39,"191","0.189861",1006,157,17,"280","0.277778",1008,188,46,"False"]
["17:72305534","C/T",null,"PASS","0.704403","47,112",159,99,"0/1","DNAI2","splice_region_variant","Other","NM_023036.4","NM_023036.4:c.1347+7C>T",null,"NM_001172810.1,NM_023036.4","10,10",",","DNAI2,DNAI2","NM_001172810.1,NM_023036.4","mRNA,mRNA","mRNA,mRNA","+,+","NP_001166281.1,NP_075462.3","NP_001166281.1,NP_075462.3","64446,64446","18744,18744","605483,605483","CCDS58589.1,CCDS11697.1",",","dynein intermediate chain 2, axonemal isoform 2,dynein intermediate chain 2, axonemal isoform 1",",","True","C/T","rs2290955","Has SubmitterLinkOut,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","100","SNV","0.6446,0.3554","True","C/T","rs2290955","EX_TARGET",18439,"1780","0.355431",5008,922,429,"248","0.357349",694,150,49,"122","0.0922844",1322,106,8,"519","0.530675",978,233,143,"639","0.635189",1006,229,205,"252","0.25",1008,204,24,"True","esv3641230,esv3641237","Gain,Gain","<CN2>,<CN2>","DUP_delly,DUP_uwash","IMPRECISE,EX_TARGET,EX_TARGET","21194,18681","3,4","0.000599042,0.000798722","5008,5008","3,4","0,0","0,0","0,0","694,694","0,0","0,0","0,2","0,0.00151286","1322,1322","0,2","0,0","0,0","0,0","978,978","0,0","0,0","3,2","0.00298211,0.00198807","1006,1006","3,2","0,0","0,0","0,0","1008,1008","0,0","0,0","C/T","163169","Benign","Benign","Benign (4)","(2 Stars) Criteria Provided, Multiple Submitters, No Conflicts","rs2290955","DNAI2","64446","NC_000017.10:g.72305534C>T","NC_000017.11:g.74309395C>T","NM_023036.4:c.1347+7C>T",null,"RCV000150500,RCV000399799,RCV000607542","not specified,Ciliary dyskinesia,Ciliary dyskinesia, primary, 9","Benign,Benign,Benign","(2 Stars) Criteria Provided, Multiple Submitters, No Conflicts,(1 Stars) Criteria Provided, Single Submitter,(0 Stars) No Assertion Criteria Provided","2013-02-21,2016-06-14,"]
["17:72694762","T/G",null,"PASS","0.525","38,42",80,99,"0/1","CD300LF,RAB37","splice_acceptor_variant","LoF","NM_001289084.1,NM_175738.4","NM_001289084.1:c.492-142A>C,NM_175738.4:c.72+26965T>G",",","NM_175738.4,NM_001289085.1,NM_001289086.1,NM_001289082.1,NM_001289083.1,NM_001289084.1,NM_001289087.1,NM_139018.4","1,5,5,5,4,4,4,4",",,,,,,,","RAB37,CD300LF,CD300LF,CD300LF,CD300LF,CD300LF,CD300LF,CD300LF","NM_175738.4,NM_001289085.1,NM_001289086.1,NM_001289082.1,NM_001289083.1,NM_001289084.1,NM_001289087.1,NM_139018.4","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","+,-,-,-,-,-,-,-","NP_783865.1,NP_001276014.1,NP_001276015.1,NP_001276011.1,NP_001276012.1,NP_001276013.1,NP_001276016.1,NP_620587.2","NP_783865.1,NP_001276014.1,NP_001276015.1,NP_001276011.1,NP_001276012.1,NP_001276013.1,NP_001276016.1,NP_620587.2","326624,146722,146722,146722,146722,146722,146722,146722","30268,29883,29883,29883,29883,29883,29883,29883","609956,609807,609807,609807,609807,609807,609807,609807","CCDS11703.1,CCDS74149.1,CCDS74150.1,CCDS74148.1,CCDS74151.1,CCDS74152.1,,CCDS11704.1",",17635,17635,17635,17635,17635,17635,17635","ras-related protein Rab-37 isoform 3,CMRF35-like molecule 1 isoform 5,CMRF35-like molecule 1 isoform 6,CMRF35-like molecule 1 isoform 2,CMRF35-like molecule 1 isoform 3 precursor,CMRF35-like molecule 1 isoform 4,CMRF35-like molecule 1 isoform 7 precursor,CMRF35-like molecule 1 isoform 1 precursor",",,,,,,,","True","T/G","rs566998097","Has SubmitterLinkOut,In acceptor splice site,In Intron,Is Assembly specific,Is Validated,1000 Genome phase 3","142","SNV","0.9998,0.0001997","False","T/G","rs566998097",null,14160,"1","0.000199681",5008,1,0,"0","0",694,0,0,"0","0",1322,0,0,"0","0",978,0,0,"1","0.000994036",1006,1,0,"0","0",1008,0,0,"False"]
["18:213592","A/G",null,"PASS","0.354839","20,11",31,99,"0/1","USP14","3_prime_UTR_variant","Other","NM_005151.3","NM_005151.3:c.*2308A>G",null,"NM_005151.3,NM_001037334.1","16,15",",","USP14,USP14","NM_005151.3,NM_001037334.1","mRNA,mRNA","mRNA,mRNA","+,+","NP_005142.1,NP_001032411.1","NP_005142.1,NP_001032411.1","9097,9097","12612,12612","607274,607274","CCDS32780.1,CCDS32781.1",",","ubiquitin carboxyl-terminal hydrolase 14 isoform a,ubiquitin carboxyl-terminal hydrolase 14 isoform b",",","True","A/G","rs9951575","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","119","SNV","0.8279,0.1721","True","A/G","rs9951575",null,19066,"862","0.172125",5008,662,100,"133","0.191643",694,107,13,"424","0.320726",1322,286,69,"176","0.179959",978,152,12,"122","0.121272",1006,110,6,"7","0.00694444",1008,7,0,"True","esv3641472;esv3641473,esv3641472;esv3641473,esv3641475","Loss,Gain,Gain","<CN0>,<CN2>,<CN2>","DUP_uwash,DUP_uwash,DUP_gs","EX_TARGET,EX_TARGET,EX_TARGET","17122,17122,15129","2,1,1","0.000399361,0.000199681,0.000199681","5008,5008,5008","2,1,1","0,0,0","0,0,0","0,0,0","694,694,694","0,0,0","0,0,0","0,0,0","0,0,0","1322,1322,1322","0,0,0","0,0,0","0,0,0","0,0,0","978,978,978","0,0,0","0,0,0","2,1,1","0.00198807,0.000994036,0.000994036","1006,1006,1006","2,1,1","0,0,0","0,0,0","0,0,0","1008,1008,1008","0,0,0","0,0,0"]
["18:9255982","A/G",null,"PASS","0.507937","31,32",63,99,"0/1","ANKRD12","missense_variant","Missense","NM_015208.4","NM_015208.4:c.2717A>G","NP_056023.3:p.Lys906Arg","NM_015208.4,NM_001083625.2,NM_001204056.1","9,8,8","43.8843,43.2516,43.2516","ANKRD12,ANKRD12,ANKRD12","NM_015208.4,NM_001083625.2,NM_001204056.1","mRNA,mRNA,mRNA","mRNA,mRNA,mRNA","+,+,+","NP_056023.3,NP_001077094.1,NP_001190985.1","NP_056023.3,NP_001077094.1,NP_001190985.1","23253,23253,23253","29135,29135,29135","610616,610616,610616","CCDS11843.1,CCDS42411.1,CCDS42411.1",",,","ankyrin repeat domain-containing protein 12 isoform 1,ankyrin repeat domain-containing protein 12 isoform 2,ankyrin repeat domain-containing protein 12 isoform 2",",,","True","A/G","rs4798791","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","111","SNV","0.3866,0.6134","True","A/G","rs4798791","EX_TARGET",17420,"3072","0.613419",5008,1060,1006,"493","0.710375",694,141,176,"507","0.38351",1322,301,103,"744","0.760736",978,188,278,"662","0.658052",1006,214,224,"666","0.660714",1008,216,225,"False"]
["18:11609904","A/G",null,"PASS","0.513043","56,59",115,99,"0/1","SLC35G4","missense_variant","Missense","NM_001282300.1","NM_001282300.1:c.310A>G","NP_001269229.1:p.Thr104Ala","NM_001282300.1","1","30.3835","SLC35G4","NM_001282300.1","mRNA","mRNA","+","NP_001269229.1","NP_001269229.1","646000","31043",null,"CCDS82241.1",null,"putative solute carrier family 35 member G4",null,"True","A/G","rs8087447","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","116","SNV","0.1102,0.8898","True","A/G","rs8087447",null,16298,"4456","0.889776",5008,492,1982,"612","0.881844",694,66,273,"1233","0.932678",1322,81,576,"880","0.899795",978,88,396,"827","0.822068",1006,159,334,"904","0.896825",1008,98,403,"False"]
["18:13095609","T/C",null,"PASS","0.454545","42,35",77,99,"0/1","CEP192","missense_variant","Missense","NM_032142.3","NM_032142.3:c.6362T>C","NP_115518.3:p.Leu2121Pro","NM_032142.3","35","83.5435","CEP192","NM_032142.3","mRNA","mRNA","+","NP_115518.3","NP_115518.3","55125","25515","616426","CCDS32792.2",null,"centrosomal protein of 192 kDa",null,"True","T/C","rs474337","RS orientation is reversed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","83","SNV","0.23,0.77","True","T/C","rs474337","EX_TARGET",15198,"3856","0.769968",5008,778,1539,"448","0.645533",694,166,141,"1254","0.948563",1322,62,596,"714","0.730061",978,178,268,"623","0.619284",1006,221,201,"817","0.810516",1008,151,333,"False"]
["18:28571649","A/T",null,"PASS","0.666667","2,4",6,51,"0/1","DSC3","3_prime_UTR_variant","Other","NM_001941.4","NM_001941.4:c.*2492T>A",null,"NM_024423.3,NM_001941.4","17,16",",","DSC3,DSC3","NM_024423.3,NM_001941.4","mRNA,mRNA","mRNA,mRNA","-,-","NP_077741.2,NP_001932.2","NP_077741.2,NP_001932.2","1825,1825","3037,3037","600271,600271",",CCDS32810.1",",","desmocollin-3 isoform Dsc3b preproprotein,desmocollin-3 isoform Dsc3a preproprotein",",","True","A/T","rs1260722","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","87","SNV","0.252,0.748","True","A/T","rs1260722",null,15313,"3746","0.748003",5008,794,1476,"435","0.626801",694,149,143,"1212","0.916793",1322,106,553,"747","0.763804",978,171,288,"477","0.474155",1006,253,112,"875","0.868056",1008,115,380,"False"]
["18:43206985","A/G",null,"PASS","0.517857","27,29",56,99,"0/1","SLC14A2","missense_variant","Missense","NM_007163.3","NM_007163.3:c.394A>G","NP_009094.3:p.Ile132Val","NM_001242692.1,NM_007163.3","5,4","14.2237,14.2237","SLC14A2,SLC14A2","NM_001242692.1,NM_007163.3","mRNA,mRNA","mRNA,mRNA","+,+","NP_001229621.1,NP_009094.3","NP_001229621.1,NP_009094.3","8170,8170","10919,10919","601611,601611","CCDS11924.1,CCDS11924.1",",","urea transporter 2,urea transporter 2",",","True","A/G","rs1484873","Variant is Precious,Has 3D structure,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3,Microattribution/third-party annotation(TPA:GWAS,PAGE)","88","SNV","0.107,0.893","True","A/G","rs1484873","EX_TARGET",15061,"4472","0.892971",5008,458,2007,"612","0.881844",694,74,269,"1152","0.871407",1322,136,508,"911","0.931493",978,65,423,"937","0.931412",1006,63,437,"860","0.853175",1008,120,370,"False"]
["18:47350832","A/T",null,"PASS","0.25","3,1",4,23,"0/1","MYO5B","3_prime_UTR_variant","Other","NM_001080467.2","NM_001080467.2:c.*2009T>A",null,"NM_001080467.2","40",null,"MYO5B","NM_001080467.2","mRNA","mRNA","-","NP_001073936.1","NP_001073936.1","4645","7603","606540","CCDS42436.1",null,"unconventional myosin-Vb",null,"True","A/T","rs79509391","Has SubmitterLinkOut,In 3' UTR,In Intron,Is Assembly specific,Genotypes available","131","SNV",{"$nulls":36},"False",{"$nulls":36},"A/T","326957","Uncertain Significance","Uncertain Significance","Uncertain significance (1)","(1 Stars) Criteria Provided, Single Submitter","rs79509391","MYO5B,SNHG22","4645,103091864","NC_000018.9:g.47350832A>T","NC_000018.10:g.49824462A>T","NM_001080467.2:c.*2009T>A",null,"RCV000371255","Diarrhea with Microvillus Atrophy","Uncertain Significance","(1 Stars) Criteria Provided, Single Submitter","2016-06-14"]
["18:51681644","T/C",null,"PASS","0.428571","8,6",14,99,"0/1","MBD2","3_prime_UTR_variant","Other","NM_003927.4","NM_003927.4:c.*50A>G",null,"NM_003927.4","7",null,"MBD2","NM_003927.4","mRNA","mRNA","-","NP_003918.1","NP_003918.1","8932","6917","603547","CCDS11953.1","04647","methyl-CpG-binding domain protein 2 isoform 1",null,"True","T/C","rs11552898","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),1000 Genome phase 1,1000 Genome phase 3","120","SNV","0.976,0.02396","True","T/C","rs11552898",null,14555,"120","0.0239617",5008,112,4,"32","0.0461095",694,26,3,"0","0",1322,0,0,"23","0.0235174",978,23,0,"58","0.0576541",1006,56,1,"7","0.00694444",1008,7,0,"False"]
["18:56204991","C/T",null,"PASS","0.455224","73,61",134,99,"0/1","ALPK2","missense_variant","Missense","NM_052947.3","NM_052947.3:c.2428G>A","NP_443179.3:p.Gly810Ser","NM_052947.3","5","37.2639","ALPK2","NM_052947.3","mRNA","mRNA","-","NP_443179.3","NP_443179.3","115701","20565",null,"CCDS11966.2",null,"alpha-protein kinase 2",null,"True","C/T","rs3809970","RS orientation is reversed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","107","SNV","0.5964,0.4036","True","C/T","rs3809970","EX_TARGET",22527,"2021","0.403554",5008,1105,458,"296","0.426513",694,156,70,"570","0.431165",1322,330,120,"342","0.349693",978,214,64,"575","0.571571",1006,241,167,"238","0.236111",1008,164,37,"False"]
["18:61471523","G/A",null,"PASS","0.512821","76,80",156,99,"0/1","SERPINB7","missense_variant","Missense","NM_003784.3","NM_003784.3:c.797G>A","NP_003775.1:p.Arg266Gln","NM_001040147.2,NM_001261831.1,NM_003784.3,NM_001261830.1","8,7,8,8","69.6413,68.2234,69.6413,69.6413","SERPINB7,SERPINB7,SERPINB7,SERPINB7","NM_001040147.2,NM_001261831.1,NM_003784.3,NM_001261830.1","mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA","+,+,+,+","NP_001035237.1,NP_001248760.1,NP_003775.1,NP_001248759.1","NP_001035237.1,NP_001248760.1,NP_003775.1,NP_001248759.1","8710,8710,8710,8710","13902,13902,13902,13902","603357,603357,603357,603357","CCDS11988.1,CCDS58633.1,CCDS11988.1,CCDS11988.1","04524,04524,04524,04524","serpin B7 isoform 1,serpin B7 isoform 2,serpin B7 isoform 1,serpin B7 isoform 1",",,,","True","G/A","rs17782413","Has 3D structure,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","123","SNV","0.8421,0.1579","True","G/A","rs17782413","EX_TARGET",20230,"791","0.157947",5008,643,74,"158","0.227666",694,124,17,"104","0.0786687",1322,98,3,"195","0.199387",978,159,18,"226","0.224652",1006,172,27,"108","0.107143",1008,90,9,"True","esv3642781","Gain","<CN2>","DUP_gs","EX_TARGET","19149","1","0.000199681","5008","1","0","0","0","694","0","0","1","0.00075643","1322","1","0","0","0","978","0","0","0","0","1006","0","0","0","0","1008","0","0"]
["19:1037640","C/T",null,"QD2,QUAL30","0.0416667","92,4",96,16,"0/1","CNN2","missense_variant","Missense","NM_001303501.1","NM_001303501.1:c.734C>T","NP_001290430.1:p.Pro245Leu","NM_201277.2,NM_001303499.1,NM_001303501.1,NM_004368.3","6,7,7,7","68.0197,71.0145,73.8167,72.043","CNN2,CNN2,CNN2,CNN2","NM_201277.2,NM_001303499.1,NM_001303501.1,NM_004368.3","mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA","+,+,+,+","NP_958434.1,NP_001290428.1,NP_001290430.1,NP_004359.1","NP_958434.1,NP_001290428.1,NP_001290430.1,NP_004359.1","1265,1265,1265,1265","2156,2156,2156,2156","602373,602373,602373,602373","CCDS12054.1,CCDS77204.1,CCDS77205.1,CCDS12053.1","03847,03847,03847,03847","calponin-2 isoform b,calponin-2 isoform c,calponin-2 isoform d,calponin-2 isoform a",",,,","True","C/T","rs200303627","Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,Marker on high density genotype kit (50K+)","137","SNV",{"$nulls":36},"True","esv3643383","Gain","<CN2>","DUP_uwash","EX_TARGET","13567","1","0.000199681","5008","1","0","0","0","694","0","0","0","0","1322","0","0","0","0","978","0","0","0","0","1006","0","0","1","0.000992064","1008","1","0"]
["19:7805128","G/A",null,"PASS","0.9","1,9",10,1,"0/1","CD209","3_prime_UTR_variant","Other","NM_021155.3","NM_021155.3:c.*2797C>T",null,"NM_001144897.1,NM_001144895.1,NM_001144899.1,NM_001144896.1,NM_001144894.1,NM_001144893.1,NM_021155.3","7,7,7,6,5,5,7",",,,,,,","CD209,CD209,CD209,CD209,CD209,CD209,CD209","NM_001144897.1,NM_001144895.1,NM_001144899.1,NM_001144896.1,NM_001144894.1,NM_001144893.1,NM_021155.3","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","-,-,-,-,-,-,-","NP_001138369.1,NP_001138367.1,NP_001138371.1,NP_001138368.1,NP_001138366.1,NP_001138365.1,NP_066978.1","NP_001138369.1,NP_001138367.1,NP_001138371.1,NP_001138368.1,NP_001138366.1,NP_001138365.1,NP_066978.1","30835,30835,30835,30835,30835,30835,30835","1641,1641,1641,1641,1641,1641,1641","604672,604672,604672,604672,604672,604672,604672","CCDS45951.1,CCDS45952.1,CCDS59345.1,CCDS45950.1,CCDS45949.1,CCDS59344.1,CCDS12186.1","05241,05241,05241,05241,05241,05241,05241","CD209 antigen isoform 4,CD209 antigen isoform 7,CD209 antigen isoform 8,CD209 antigen isoform 3,CD209 antigen isoform 6,CD209 antigen isoform 5,CD209 antigen isoform 1",",,,,,,","True","G/A","rs4804800","Variant is Precious,Links exist to PubMed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","111","SNV","0.2232,0.7768","True","G/A","rs4804800",null,19254,"3890","0.776757",5008,812,1539,"614","0.884726",694,68,273,"897","0.678517",1322,295,301,"825","0.843558",978,127,349,"881","0.875746",1006,113,384,"673","0.667659",1008,209,232,"False"]
["19:9019348","A/G",null,"QD2","0.0809249","159,14",173,99,"0/1","MUC16","splice_region_variant","Other","NM_024690.2","NM_024690.2:c.37547-8T>C",null,"NM_024690.2","23",null,"MUC16","NM_024690.2","mRNA","mRNA","-","NP_078966.2","NP_078966.2","94025","15582","606154","CCDS54212.1",null,"mucin-16",null,"True","A/G","rs796538927","In Intron,Is Assembly specific","146","SNV",{"$nulls":36},"True","esv3643623","Gain","<CN2>","DUP_gs","EX_TARGET","17851","63","0.0125799","5008","63","0","13","0.018732","694","13","0","12","0.00907716","1322","12","0","6","0.00613497","978","6","0","14","0.0139165","1006","14","0","18","0.0178571","1008","18","0"]
["19:10081930","G/A",null,"PASS","0.5","77,77",154,99,"0/1","COL5A3","missense_variant","Missense","NM_015719.3","NM_015719.3:c.3779C>T","NP_056534.2:p.Pro1260Leu","NM_015719.3","52","72.1268","COL5A3","NM_015719.3","mRNA","mRNA","-","NP_056534.2","NP_056534.2","50509","14864","120216","CCDS12222.1",null,"collagen alpha-3(V) chain preproprotein",null,"False",{"$nulls":41},"False"]
["19:33370070","A/G",null,"PASS","0.280374","77,30",107,99,"0/1","CEP89","stop_lost","LoF","NM_032816.4","NM_032816.4:c.2350T>C","NP_116205.3:p.Ter784Glnext*8","NM_032816.4","19","99.8724","CEP89","NM_032816.4","mRNA","mRNA","-","NP_116205.3","NP_116205.3","84902","25907","615470","CCDS32987.1",null,"centrosomal protein of 89 kDa",null,"True","A/G","rs745961","RS orientation is reversed,Has SubmitterLinkOut,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","86","SNV","0.8357,0.1643","True","A/G","rs745961","EX_TARGET",13364,"823","0.164337",5008,619,102,"106","0.152738",694,90,8,"93","0.070348",1322,89,2,"180","0.184049",978,144,18,"336","0.333996",1006,206,65,"108","0.107143",1008,90,9,"False"]
["19:36430368","C/T",null,"PASS","0.298077","73,31",104,99,"0/1","LRFN3","missense_variant","Missense","NM_024509.1","NM_024509.1:c.41C>T","NP_078785.1:p.Ala14Val","NM_024509.1","2","2.11977","LRFN3","NM_024509.1","mRNA","mRNA","+","NP_078785.1","NP_078785.1","79414","28370","612809","CCDS12483.1","14309","leucine-rich repeat and fibronectin type-III domain-containing protein 3 precursor",null,"True","C/T","rs34933126","RS orientation is reversed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","126","SNV","0.9351,0.0649","True","C/T","rs34933126","EX_TARGET",12900,"325","0.0648962",5008,279,23,"16","0.0230548",694,16,0,"221","0.167171",1322,179,21,"52","0.0531697",978,50,1,"25","0.0248509",1006,23,1,"11","0.0109127",1008,11,0,"False"]
["19:37642434","G/A",null,"PASS","0.294118","60,25",85,99,"0/1","ZNF585A","3_prime_UTR_variant","Other","NM_001288800.1","NM_001288800.1:c.*57C>T",null,"NM_199126.2,NM_152655.3,NM_001288800.1","6,6,5",",,","ZNF585A,ZNF585A,ZNF585A","NM_199126.2,NM_152655.3,NM_001288800.1","mRNA,mRNA,mRNA","mRNA,mRNA,mRNA","-,-,-","NP_954577.1,NP_689868.1,NP_001275729.1","NP_954577.1,NP_689868.1,NP_001275729.1","199704,199704,199704","26305,26305,26305",",,","CCDS12499.1,CCDS12499.1,CCDS74353.1","15862,15862,15862","zinc finger protein 585A isoform a,zinc finger protein 585A isoform a,zinc finger protein 585A isoform b",",,","True","G/A","rs141288430","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,1000 Genome phase 1,1000 Genome phase 3","134","SNV","0.9417,0.05831","True","G/A","rs141288430",null,19179,"292","0.0583067",5008,266,13,"65","0.0936599",694,55,5,"104","0.0786687",1322,98,3,"23","0.0235174",978,23,0,"23","0.0228628",1006,21,1,"77","0.0763889",1008,69,4,"False"]
["19:38230720","C/G",null,"PASS","0.684932","69,150",219,99,"0/1","ZNF573","missense_variant","Missense","NM_001172690.1","NM_001172690.1:c.671G>C","NP_001166161.1:p.Gly224Ala","NM_001172689.1,NM_152360.3,NM_001172690.1,NM_001172691.1,NM_001172692.1","6,8,5,5,4","23.4141,27.193,33.5335,33.3333,23.4141","ZNF573,ZNF573,ZNF573,ZNF573,ZNF573","NM_001172689.1,NM_152360.3,NM_001172690.1,NM_001172691.1,NM_001172692.1","mRNA,mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA,mRNA","-,-,-,-,-","NP_001166160.1,NP_689573.3,NP_001166161.1,NP_001166162.1,NP_001166163.1","NP_001166160.1,NP_689573.3,NP_001166161.1,NP_001166162.1,NP_001166163.1","126231,126231,126231,126231,126231","26420,26420,26420,26420,26420",",,,,","CCDS54260.1,CCDS12508.1,CCDS59381.1,,CCDS54260.1",",,,,","zinc finger protein 573 isoform 2,zinc finger protein 573 isoform 1,zinc finger protein 573 isoform 3,zinc finger protein 573 isoform 4,zinc finger protein 573 isoform 2",",,,,","True","C/G","rs3752365","Has 3D structure,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","107","SNV","0.9006,0.09944","True","C/G","rs3752365","EX_TARGET",20686,"498","0.0994409",5008,418,40,"87","0.12536",694,75,6,"25","0.0189107",1322,25,0,"98","0.100204",978,90,4,"218","0.2167",1006,162,28,"70","0.0694444",1008,66,2,"False"]
["19:40009396","A/G",null,"PASS","0.657534","50,96",146,99,"0/1","SELENOV","missense_variant","Missense","NM_182704.1","NM_182704.1:c.851A>G","NP_874363.1:p.Lys284Arg","NM_182704.1","3","81.6523","SELENOV","NM_182704.1","mRNA","mRNA","+","NP_874363.1","NP_874363.1","348303","30399","607919","CCDS54266.1","12134","selenoprotein V",null,"True","A/G","rs56149652","Has 3D structure,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","129","SNV","0.7256,0.2744","True","A/G","rs56149652","EX_TARGET",15203,"1374","0.274361",5008,978,198,"182","0.262248",694,132,25,"331","0.250378",1322,245,43,"238","0.243354",978,182,28,"256","0.254473",1006,194,31,"367","0.364087",1008,225,71,"False"]
["19:41381683","G/T",null,"MQ40","0.5","168,168",336,99,"0/1","CYP2A7","stop_gained","LoF","NM_000764.2","NM_000764.2:c.1400C>A","NP_000755.2:p.Ser467Ter","NM_030589.2,NM_000764.2","8,9","93.5435,94.2088","CYP2A7,CYP2A7","NM_030589.2,NM_000764.2","mRNA,mRNA","mRNA,mRNA","-,-","NP_085079.2,NP_000755.2","NP_085079.2,NP_000755.2","1549,1549","2611,2611","608054,608054",",CCDS12569.1","07453,07453","cytochrome P450 2A7 isoform 2 precursor,cytochrome P450 2A7 isoform 1 precursor",",","True","G/T","rs58682606","RS orientation is reversed,Has SubmitterLinkOut,Has non-synonymous nonsense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","130","SNV","0.9471,0.05292","True","G/T","rs71358943","EX_TARGET",15360,"265","0.0529153",5008,241,12,"42","0.0605187",694,42,0,"126","0.0953101",1322,118,4,"34","0.0347648",978,26,4,"61","0.0606362",1006,53,4,"2","0.00198413",1008,2,0,"True","esv3644361","Loss","<CN0>","DEL_union","EX_TARGET","17659","228","0.0455272","5008","208","10","22","0.0317003","694","20","1","22","0.0166415","1322","22","0","43","0.0439673","978","43","0","23","0.0228628","1006","23","0","118","0.117063","1008","100","9"]
["19:41939297","C/G",null,"PASS","0.397626","203,134",337,99,"0/1","ATP5SL","missense_variant","Missense","NM_001167867.1","NM_001167867.1:c.494G>C","NP_001161339.1:p.Cys165Ser","NM_001320840.1,NM_001320841.1,NM_001167867.1,NM_001167868.1,NM_001167870.1,NM_001167871.1,NM_001320838.1,NM_001167869.1,NM_018035.2,NM_001320839.1,NM_001320844.1","4,3,5,4,3,4,4,4,5,4,4","57.9466,,62.2475,,,56.8543,,,61.3695,76.7225,75.9152","ATP5SL,ATP5SL,ATP5SL,ATP5SL,ATP5SL,ATP5SL,ATP5SL,ATP5SL,ATP5SL,ATP5SL,ATP5SL","NM_001320840.1,NM_001320841.1,NM_001167867.1,NM_001167868.1,NM_001167870.1,NM_001167871.1,NM_001320838.1,NM_001167869.1,NM_018035.2,NM_001320839.1,NM_001320844.1","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","-,-,-,-,-,-,-,-,-,-,-","NP_001307769.1,NP_001307770.1,NP_001161339.1,NP_001161340.1,NP_001161342.1,NP_001161343.1,NP_001307767.1,NP_001161341.1,NP_060505.2,NP_001307768.1,NP_001307773.1","NP_001307769.1,NP_001307770.1,NP_001161339.1,NP_001161340.1,NP_001161342.1,NP_001161343.1,NP_001307767.1,NP_001161341.1,NP_060505.2,NP_001307768.1,NP_001307773.1","55101,55101,55101,55101,55101,55101,55101,55101,55101,55101,55101","25496,25496,25496,25496,25496,25496,25496,25496,25496,25496,25496","617262,617262,617262,617262,617262,617262,617262,617262,617262,617262,617262",",,CCDS54270.1,CCDS54269.1,CCDS59389.1,CCDS54271.1,,CCDS59390.1,CCDS33032.1,CCDS82353.1,CCDS82354.1",",,,,,,,,,,","ATP synthase subunit s-like protein isoform 9,ATP synthase subunit s-like protein isoform 10,ATP synthase subunit s-like protein isoform 1,ATP synthase subunit s-like protein isoform 2,ATP synthase subunit s-like protein isoform 6,ATP synthase subunit s-like protein isoform 5,ATP synthase subunit s-like protein isoform 7,ATP synthase subunit s-like protein isoform 3,ATP synthase subunit s-like protein isoform 4,ATP synthase subunit s-like protein isoform 8,ATP synthase subunit s-like protein isoform 11",",,,,,,,,,,","True","C/G","rs1043413","RS orientation is reversed,Variant is Precious,Links exist to PubMed,Has 3D structure,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","86","SNV","0.4932,0.5068","True","C/G","rs1043413","EX_TARGET",15390,"2538","0.506789",5008,1198,670,"382","0.550432",694,170,106,"785","0.593797",1322,325,230,"385","0.393661",978,221,82,"412","0.409543",1006,240,86,"574","0.569444",1008,242,166,"False"]
["19:43420451","G/C",null,"PASS","0.291176","241,99",340,99,"0/1","PSG6","missense_variant","Missense","NM_002782.4","NM_002782.4:c.253C>G","NP_002773.1:p.His85Asp","NM_001031850.3,NM_002782.4","2,2","19.7647,19.2661","PSG6,PSG6","NM_001031850.3,NM_002782.4","mRNA,mRNA","mRNA,mRNA","-,-","NP_001027020.1,NP_002773.1","NP_001027020.1,NP_002773.1","5675,5675","9523,9523","176395,176395","CCDS33038.1,CCDS12613.1","08895,08895","pregnancy-specific beta-1-glycoprotein 6 isoform b precursor,pregnancy-specific beta-1-glycoprotein 6 isoform a precursor",",","True","G/C","rs3198831","RS orientation is reversed,Has 3D structure,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","105","SNV","0.5465,0.4535","True","G/C","rs3198831","EX_TARGET",21337,"2271","0.453474",5008,1141,565,"296","0.426513",694,158,69,"792","0.599092",1322,340,226,"493","0.50409",978,217,138,"254","0.252485",1006,184,35,"436","0.43254",1008,242,97,"True","esv3644409,esv3644410,esv3644411,esv3644423","Loss,Loss,Loss,Loss","<CN0>,<CN0>,<CN0>,<CN0>","DEL_union,DEL_union,DEL_union,DEL_union","EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET","32484,18885,19877,20393","123,123,19,128","0.0245607,0.0245607,0.00379393,0.0255591","5008,5008,5008,5008","121,121,19,126","1,1,0,1","14,14,2,16","0.0201729,0.0201729,0.00288184,0.0230548","694,694,694,694","14,14,2,16","0,0,0,0","13,13,5,8","0.00983359,0.00983359,0.00378215,0.00605144","1322,1322,1322,1322","13,13,5,8","0,0,0,0","40,40,6,56","0.0408998,0.0408998,0.00613497,0.0572597","978,978,978,978","38,38,6,54","1,1,0,1","27,27,4,23","0.026839,0.026839,0.00397614,0.0228628","1006,1006,1006,1006","27,27,4,23","0,0,0,0","29,29,2,25","0.0287698,0.0287698,0.00198413,0.0248016","1008,1008,1008,1008","29,29,2,25","0,0,0,0"]
["19:44174441","C/T",null,"PASS","0.444444","20,16",36,99,"0/1","PLAUR","5_prime_UTR_variant","Other","NM_002659.3","NM_002659.3:c.-169G>A",null,"NM_001005376.2,NM_001301037.1,NM_001005377.2,NM_002659.3","1,1,1,1",",,,","PLAUR,PLAUR,PLAUR,PLAUR","NM_001005376.2,NM_001301037.1,NM_001005377.2,NM_002659.3","mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA","-,-,-,-","NP_001005376.1,NP_001287966.1,NP_001005377.1,NP_002650.1","NP_001005376.1,NP_001287966.1,NP_001005377.1,NP_002650.1","5329,5329,5329,5329","9053,9053,9053,9053","173391,173391,173391,173391","CCDS33041.1,CCDS74386.1,CCDS33042.1,CCDS12628.1","01421,01421,01421,01421","urokinase plasminogen activator surface receptor isoform 2 precursor,urokinase plasminogen activator surface receptor isoform 4 precursor,urokinase plasminogen activator surface receptor isoform 3 precursor,urokinase plasminogen activator surface receptor isoform 1 precursor",",,,","True","C/T","rs4251805","RS orientation is reversed,Variant is Precious,Links exist to PubMed,Has SubmitterLinkOut,In 5' UTR,In 5' gene region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","111","SNV","0.971,0.02895","True","C/T","rs4251805",null,15809,"145","0.0289537",5008,131,7,"10","0.0144092",694,10,0,"92","0.0695915",1322,82,5,"19","0.0194274",978,19,0,"24","0.0238569",1006,20,2,"0","0",1008,0,0,"False"]
["19:45448701","C/A",null,"QD2","0.195652","37,9",46,99,"0/1","APOC4","3_prime_UTR_variant","Other","NM_001646.2","NM_001646.2:c.*139C>A",null,"NM_001646.2","3",null,"APOC4","NM_001646.2","mRNA","mRNA","+","NP_001637.1","NP_001637.1","346","611","600745","CCDS12649.1",null,"apolipoprotein C-IV precursor",null,"False",{"$nulls":41},"False"]
["19:45449284","T/G",null,"PASS","0.333333","4,2",6,62,"0/1","APOC2","5_prime_UTR_variant","Other","NM_000483.4","NM_000483.4:c.-62T>G",null,"NM_000483.4","1",null,"APOC2","NM_000483.4","mRNA","mRNA","+","NP_000474.2","NP_000474.2","344","609","608083","CCDS12650.1",null,"apolipoprotein C-II precursor",null,"True","T/G","rs2288911","RS orientation is reversed,Provisional Third Party Annotation(TPA),Has SubmitterLinkOut,In 5' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","100","SNV","0.3343,0.6657","True","T/G","rs2288911",null,10342,"3334","0.665735",5008,1016,1159,"510","0.73487",694,132,189,"1022","0.773071",1322,228,397,"627","0.641104",978,209,209,"496","0.493042",1006,240,128,"679","0.673611",1008,207,236,"False",{"$nulls":36},"T/G","329451","Benign","Benign","Benign (1)","(1 Stars) Criteria Provided, Single Submitter","rs2288911","APOC2,APOC4-APOC2","344,100533990","NC_000019.9:g.45449284T>G","NC_000019.10:g.44946027T>G","NM_000483.4:c.-62T>G",null,"RCV000369592","Apolipoprotein C2 deficiency","Benign","(1 Stars) Criteria Provided, Single Submitter","2016-06-14"]
["19:47104535","T/A",null,"PASS","0.75","2,6",8,50,"0/1","CALM3","5_prime_UTR_variant","Other","NM_005184.3","NM_005184.3:c.-157T>A",null,"NM_001329921.1,NM_001329925.1,NM_001329926.1,NM_001329924.1,NM_005184.3","1,1,1,1,1",",,,,","CALM3,CALM3,CALM3,CALM3,CALM3","NM_001329921.1,NM_001329925.1,NM_001329926.1,NM_001329924.1,NM_005184.3","mRNA,mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA,mRNA","+,+,+,+,+","NP_001316850.1,NP_001316854.1,NP_001316855.1,NP_001316853.1,NP_005175.2","NP_001316850.1,NP_001316854.1,NP_001316855.1,NP_001316853.1,NP_005175.2","808,808,808,808,808","1449,1449,1449,1449,1449","114183,114183,114183,114183,114183",",,,,CCDS33061.1",",,,,","calmodulin isoform 2,calmodulin isoform 2,calmodulin isoform 2,calmodulin isoform 2,calmodulin isoform 1",",,,,","True","T/A","rs150954567","Has SubmitterLinkOut,In 5' UTR,In Intron,In 5' gene region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,1000 Genome phase 1,1000 Genome phase 3","134","SNV","0.8287,0.1713","True","T/A","rs150954567",null,5268,"858","0.171326",5008,624,117,"64","0.092219",694,62,1,"70","0.0529501",1322,66,2,"155","0.158487",978,115,20,"199","0.197813",1006,155,22,"370","0.367063",1008,226,72,"False"]
["19:48640807","C/T",null,"PASS","0.713592","59,147",206,99,"0/1","LIG1","missense_variant","Missense","NM_000234.2","NM_000234.2:c.1226G>A","NP_000225.1:p.Arg409His","NM_000234.2,NM_001320971.1,NM_001289063.1,NM_001289064.1,NM_001320970.1","13,12,12,11,13","44.3841,42.5094,42.4447,39.9452,44.3235","LIG1,LIG1,LIG1,LIG1,LIG1","NM_000234.2,NM_001320971.1,NM_001289063.1,NM_001289064.1,NM_001320970.1","mRNA,mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA,mRNA","-,-,-,-,-","NP_000225.1,NP_001307900.1,NP_001275992.1,NP_001275993.1,NP_001307899.1","NP_000225.1,NP_001307900.1,NP_001275992.1,NP_001275993.1,NP_001307899.1","3978,3978,3978,3978,3978","6598,6598,6598,6598,6598","126391,126391,126391,126391,126391","CCDS12711.1,,CCDS74409.1,CCDS74410.1,",",,,,","DNA ligase 1 isoform 1,DNA ligase 1 isoform 5,DNA ligase 1 isoform 2,DNA ligase 1 isoform 3,DNA ligase 1 isoform 4",",,,,","True","C/T","rs4987068","RS orientation is reversed,Variant is Precious,Links exist to PubMed,Has 3D structure,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","113","SNV","0.9918,0.008187","True","C/T","rs4987068","EX_TARGET",17095,"41","0.0081869",5008,39,1,"1","0.00144092",694,1,0,"0","0",1322,0,0,"13","0.0132924",978,13,0,"27","0.026839",1006,25,1,"0","0",1008,0,0,"False"]
["19:49558729","G/C",null,"PASS","0.37037","51,30",81,99,"0/1","CGB7","5_prime_UTR_variant","Other","NM_033142.1","NM_033142.1:c.-97C>G",null,"NM_033142.1","1",null,"CGB7","NM_033142.1","mRNA","mRNA","-","NP_149133.1","NP_149133.1","94027","16451","608826","CCDS33071.1","12310","choriogonadotropin subunit beta 7 precursor",null,"True","G/C","rs12461085","Has SubmitterLinkOut,In 3' UTR,In 5' UTR,In 5' gene region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","120","SNV","0.4782,0.5218","True","G/C","rs12461085",null,18381,"2613","0.521765",5008,1219,697,"289","0.416427",694,161,64,"837","0.633132",1322,329,254,"524","0.535787",978,246,139,"513","0.50994",1006,227,143,"450","0.446429",1008,256,97,"True","esv3644611,esv3644612","Loss,Gain","<CN0>,<CN2>","DEL_union,DUP_delly","EX_TARGET,IMPRECISE,EX_TARGET","16583,16209","13,1","0.00259585,0.000199681","5008,5008","13,1","0,0","5,0","0.00720461,0","694,694","5,0","0,0","1,0","0.00075643,0","1322,1322","1,0","0,0","0,0","0,0","978,978","0,0","0,0","7,0","0.00695825,0","1006,1006","7,0","0,0","0,1","0,0.000992064","1008,1008","0,1","0,0"]
["19:49964977","C/G",null,"PASS","0.471074","64,57",121,99,"0/1","ALDH16A1","missense_variant","Missense","NM_153329.3","NM_153329.3:c.679C>G","NP_699160.2:p.Leu227Val","NM_153329.3,NM_001145396.1","6,6","28.1445,30.0532","ALDH16A1,ALDH16A1","NM_153329.3,NM_001145396.1","mRNA,mRNA","mRNA,mRNA","+,+","NP_699160.2,NP_001138868.1","NP_699160.2,NP_001138868.1","126133,126133","28114,28114","613358,613358","CCDS12766.1,CCDS46141.1",",","aldehyde dehydrogenase family 16 member A1 isoform 1,aldehyde dehydrogenase family 16 member A1 isoform 2",",","True","C/A/G","rs1320303","Has 3D structure,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","88","SNV","0.4898,,0.5102","True","C/G","rs1320303","EX_TARGET",11636,"2555","0.510184",5008,1167,694,"293","0.42219",694,159,67,"695","0.525719",1322,333,181,"528","0.539877",978,242,143,"715","0.710736",1006,205,255,"324","0.321429",1008,228,48,"True","esv3644624","Gain","<CN2>","DUP_gs","EX_TARGET","11231","1","0.000199681","5008","1","0","0","0","694","0","0","0","0","1322","0","0","0","0","978","0","0","0","0","1006","0","0","1","0.000992064","1008","1","0"]
["19:51217550","G/A",null,"PASS","0.521739","33,36",69,99,"0/1","SHANK1","splice_region_variant","Other","NM_016148.3","NM_016148.3:c.532-3C>T",null,"NM_016148.3","4",null,"SHANK1","NM_016148.3","mRNA","mRNA","-","NP_057232.2","NP_057232.2","50944","15474","604999","CCDS12799.1",null,"SH3 and multiple ankyrin repeat domains protein 1",null,"True","G/A","rs3745530","RS orientation is reversed,Has SubmitterLinkOut,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","107","SNV","0.5964,0.4036","True","G/A","rs3745530","EX_TARGET",19317,"2021","0.403554",5008,1181,420,"285","0.410663",694,173,56,"554","0.419062",1322,314,120,"484","0.494888",978,244,120,"463","0.460239",1006,263,100,"235","0.233135",1008,187,24,"False"]
["19:51728641","A/G",null,"PASS","0.465909","47,41",88,99,"0/1","CD33","missense_variant","Missense","NM_001772.3","NM_001772.3:c.205A>G","NP_001763.3:p.Arg69Gly","NM_001177608.1,NM_001082618.1,NM_001772.3","2,1,2","21.865,,18.6301","CD33,CD33,CD33","NM_001177608.1,NM_001082618.1,NM_001772.3","mRNA,mRNA,mRNA","mRNA,mRNA,mRNA","+,+,+","NP_001171079.1,NP_001076087.1,NP_001763.3","NP_001171079.1,NP_001076087.1,NP_001763.3","945,945,945","1659,1659,1659","159590,159590,159590","CCDS54299.1,CCDS46157.1,CCDS33084.1",",,","myeloid cell surface antigen CD33 isoform 3 precursor,myeloid cell surface antigen CD33 isoform 2,myeloid cell surface antigen CD33 isoform 1 precursor",",,","True","A/G","rs2455069","Variant is Precious,Links exist to PubMed,Has 3D structure,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","100","SNV","0.6649,0.3351","True","A/G","rs2455069","EX_TARGET",19238,"1678","0.335064",5008,1016,331,"207","0.298271",694,145,31,"703","0.53177",1322,347,178,"212","0.216769",978,168,22,"451","0.44831",1006,255,98,"105","0.104167",1008,101,2,"False"]
["19:52035067","A/G",null,"PASS","0.510638","23,24",47,99,"0/1","SIGLEC6","5_prime_UTR_variant","Other","NM_001245.6","NM_001245.6:c.-165T>C",null,"NM_001177548.2,NM_001245.6,NM_001177549.2,NM_001177547.2,NM_198846.5,NM_198845.5","1,1,1,1,1,1",",,,,,","SIGLEC6,SIGLEC6,SIGLEC6,SIGLEC6,SIGLEC6,SIGLEC6","NM_001177548.2,NM_001245.6,NM_001177549.2,NM_001177547.2,NM_198846.5,NM_198845.5","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","-,-,-,-,-,-","NP_001171019.1,NP_001236.4,NP_001171020.1,NP_001171018.1,NP_942143.3,NP_942142.3","NP_001171019.1,NP_001236.4,NP_001171020.1,NP_001171018.1,NP_942143.3,NP_942142.3","946,946,946,946,946,946","10875,10875,10875,10875,10875,10875","604405,604405,604405,604405,604405,604405","CCDS54308.1,CCDS12834.3,CCDS59417.1,CCDS54307.1,CCDS12836.3,CCDS12835.3",",,,,,","sialic acid-binding Ig-like lectin 6 isoform 5 precursor,sialic acid-binding Ig-like lectin 6 isoform 1 precursor,sialic acid-binding Ig-like lectin 6 isoform 6 precursor,sialic acid-binding Ig-like lectin 6 isoform 4,sialic acid-binding Ig-like lectin 6 isoform 3 precursor,sialic acid-binding Ig-like lectin 6 isoform 2 precursor",",,,,,","True","A/G","rs12609762","Has SubmitterLinkOut,In 5' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","120","SNV","0.8486,0.1514","True","A/G","rs12609762",null,18007,"758","0.151358",5008,630,64,"96","0.138329",694,80,8,"249","0.188351",1322,205,22,"149","0.152352",978,125,12,"169","0.167992",1006,133,18,"95","0.094246",1008,87,4,"False"]
["19:53019134","C/T",null,"PASS","0.3","7,3",10,57,"0/1","ZNF578","3_prime_UTR_variant","Other","NM_001099694.1","NM_001099694.1:c.*3727C>T",null,"NM_001099694.1","6",null,"ZNF578","NM_001099694.1","mRNA","mRNA","+","NP_001093164.1","NP_001093164.1","147660","26449",null,"CCDS54310.1",null,"zinc finger protein 578",null,"True","C/T","rs7257685","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","116","SNV","0.8179,0.1821","True","C/T","rs7257685",null,17523,"912","0.182109",5008,680,116,"192","0.276657",694,128,32,"219","0.165658",1322,169,25,"194","0.198364",978,156,19,"288","0.286282",1006,208,40,"19","0.0188492",1008,19,0,"False"]
["19:53669492","A/G",null,"PASS","0.527132","61,68",129,99,"0/1","ZNF665","missense_variant","Missense","NM_024733.3","NM_024733.3:c.251T>C","NP_079009.3:p.Val84Ala","NM_024733.3","4","12.273","ZNF665","NM_024733.3","mRNA","mRNA","-","NP_079009.3","NP_079009.3","79788","25885",null,"CCDS46169.1",null,"zinc finger protein 665",null,"True","A/G","rs12460170","Variant is Precious,Links exist to PubMed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","120","SNV","0.4822,0.5178","True","A/G","rs12460170","EX_TARGET",18721,"2593","0.517772",5008,1009,792,"451","0.649856",694,149,151,"205","0.155068",1322,165,20,"686","0.701432",978,216,235,"601","0.597416",1006,249,176,"650","0.644841",1008,230,210,"True","esv3644740,esv3644741","Gain,Gain","<CN2>,<CN2>","DUP_gs,DUP_uwash","EX_TARGET,EX_TARGET","16016,12908","1,1","0.000199681,0.000199681","5008,5008","1,1","0,0","0,0","0,0","694,694","0,0","0,0","0,1","0,0.00075643","1322,1322","0,1","0,0","0,0","0,0","978,978","0,0","0,0","0,0","0,0","1006,1006","0,0","0,0","1,0","0.000992064,0","1008,1008","1,0","0,0"]
["19:54545531","T/C",null,"PASS","0.40625","57,39",96,99,"0/1","VSTM1","missense_variant","Missense","NM_198481.3","NM_198481.3:c.487A>G","NP_940883.2:p.Ser163Gly","NM_198481.3,NM_001288793.1,NM_001288791.1,NM_001288792.1","5,2,5,5","68.3544,35.8974,49.6644,","VSTM1,VSTM1,VSTM1,VSTM1","NM_198481.3,NM_001288793.1,NM_001288791.1,NM_001288792.1","mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA","-,-,-,-","NP_940883.2,NP_001275722.1,NP_001275720.1,NP_001275721.1","NP_940883.2,NP_001275722.1,NP_001275720.1,NP_001275721.1","284415,284415,284415,284415","29455,29455,29455,29455","616804,616804,616804,616804","CCDS12872.1,CCDS74441.1,,CCDS74442.1",",,,","V-set and transmembrane domain-containing protein 1 isoform 1 precursor,V-set and transmembrane domain-containing protein 1 isoform 4,V-set and transmembrane domain-containing protein 1 isoform 2,V-set and transmembrane domain-containing protein 1 isoform 3 precursor",",,,","True","T/C","rs2433724","RS orientation is reversed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","100","SNV","0.6759,0.3241","True","T/C","rs2433724","EX_TARGET",18838,"1623","0.324081",5008,1015,304,"302","0.435158",694,160,71,"513","0.388048",1322,313,100,"210","0.214724",978,160,25,"437","0.434394",1006,241,98,"161","0.159722",1008,141,10,"False"]
["19:54784908","C/A",null,"PASS","0.409836","36,25",61,99,"0/1","LILRB2","5_prime_UTR_premature_start_codon_gain_variant","Missense","NM_005874.4","NM_005874.4:c.-141G>T","NP_005865.3:p.Met1ext-47","NM_005874.4,NM_001080978.3,NM_001278404.2","1,1,1",",,","LILRB2,LILRB2,LILRB2","NM_005874.4,NM_001080978.3,NM_001278404.2","mRNA,mRNA,mRNA","mRNA,mRNA,mRNA","-,-,-","NP_005865.3,NP_001074447.2,NP_001265333.2","NP_005865.3,NP_001074447.2,NP_001265333.2","10288,10288,10288","6606,6606,6606","604815,604815,604815","CCDS12886.1,CCDS42612.1,CCDS62791.1",",,","leukocyte immunoglobulin-like receptor subfamily B member 2 isoform 1 precursor,leukocyte immunoglobulin-like receptor subfamily B member 2 isoform 2 precursor,leukocyte immunoglobulin-like receptor subfamily B member 2 isoform 3",",,","True","C/A","rs13345069","Has SubmitterLinkOut,In 5' UTR,In 5' gene region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","121","SNV","0.6448,0.3552","True","C/A","rs13345069",null,20505,"1779","0.355232",5008,1051,364,"262","0.377522",694,166,48,"341","0.257942",1322,251,45,"455","0.465235",978,273,91,"580","0.576541",1006,246,167,"141","0.139881",1008,115,13,"True","esv3644792;esv3644793,esv3644792;esv3644793","Loss,Gain","<CN0>,<CN2>","DUP_gs,DUP_gs","EX_TARGET,EX_TARGET","15550,15550","1,6","0.000199681,0.00119808","5008,5008","1,6","0,0","0,0","0,0","694,694","0,0","0,0","0,0","0,0","1322,1322","0,0","0,0","1,0","0.00102249,0","978,978","1,0","0,0","0,1","0,0.000994036","1006,1006","0,1","0,0","0,5","0,0.00496032","1008,1008","0,5","0,0"]
["19:55342030","A/G",null,"PASS","0.5","7,7",14,99,"0/1","KIR3DL1","3_prime_UTR_variant","Other","NM_013289.2","NM_013289.2:c.*300A>G",null,"NM_013289.2","9",null,"KIR3DL1","NM_013289.2","mRNA","mRNA","+","NP_037421.2","NP_037421.2","3811","6338","604946","CCDS42621.1",null,"killer cell immunoglobulin-like receptor 3DL1 precursor",null,"True","A/G","rs4806580","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","111","SNV","0.6901,0.3099","True","A/G","rs4806580",null,15284,"1552","0.309904",5008,624,464,"224","0.322767",694,94,65,"364","0.27534",1322,190,87,"208","0.212679",978,72,68,"480","0.477137",1006,156,162,"276","0.27381",1008,112,82,"True","esv3644814,esv3644815,esv3644818;esv3644819,esv3644818;esv3644819","Loss,Loss,Loss,Gain","<CN0>,<CN0>,<CN0>,<CN2>","DEL_union,DEL_union,DUP_gs,DUP_gs","EX_TARGET,EX_TARGET,EX_TARGET,EX_TARGET","10752,13829,11457,11457","107,264,1174,13","0.0213658,0.0527157,0.234425,0.00259585","5008,5008,5008,5008","97,240,870,13","5,12,152,0","12,51,151,0","0.0172911,0.073487,0.217579,0","694,694,694,694","12,47,117,0","0,2,17,0","22,48,207,9","0.0166415,0.0363086,0.156581,0.00680787","1322,1322,1322,1322","20,44,169,9","1,2,19,0","61,112,353,0","0.0623722,0.114519,0.360941,0","978,978,978,978","55,102,217,0","3,5,68,0","11,25,228,1","0.0109344,0.0248509,0.22664,0.000994036","1006,1006,1006,1006","9,21,172,1","1,2,28,0","1,28,235,3","0.000992064,0.0277778,0.233135,0.00297619","1008,1008,1008,1008","1,26,195,3","0,1,20,0"]
["19:56055578","G/A",null,"PASS","0.489583","49,47",96,99,"0/1","SBK3","missense_variant","Missense","NM_001199824.2","NM_001199824.2:c.287C>T","NP_001186753.1:p.Ala96Val","NM_001199824.2","3","26.5552","SBK3","NM_001199824.2","mRNA","mRNA","-","NP_001186753.1","NP_001186753.1","100130827","44121",null,"CCDS74457.1",null,"uncharacterized serine/threonine-protein kinase SBK3",null,"True","G/A","rs35471514","Has 3D structure,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","126","SNV","0.992,0.007987","True","G/A","rs35471514",null,16323,"40","0.00798722",5008,40,0,"9","0.0129683",694,9,0,"3","0.00226929",1322,3,0,"8","0.00817996",978,8,0,"20","0.0198807",1006,20,0,"0","0",1008,0,0,"False"]
["19:56284507","T/G",null,"MQ40","0.4625","43,37",80,99,"0/1","RFPL4AL1","missense_variant","Missense","NM_001277397.1","NM_001277397.1:c.826T>G","NP_001264326.1:p.Ser276Ala","NM_001277397.1","2","95.4861","RFPL4AL1","NM_001277397.1","mRNA","mRNA","+","NP_001264326.1","NP_001264326.1","729974","45147",null,"CCDS59425.1",null,"ret finger protein-like 4A-like protein 1",null,"True","T/G","rs73933348","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 3","130","SNV","0.4986,0.5014","True","T/G","rs73933348",null,26727,"2511","0.501398",5008,1477,517,"280","0.403458",694,170,55,"848","0.641452",1322,426,211,"559","0.571575",978,295,132,"338","0.335984",1006,222,58,"486","0.482143",1008,364,61,"False"]
["19:57134257","G/T",null,"PASS","0.472727","29,26",55,99,"0/1","ZNF71","3_prime_UTR_variant","Other","NM_021216.4","NM_021216.4:c.*132G>T",null,"NM_021216.4","3",null,"ZNF71","NM_021216.4","mRNA","mRNA","+","NP_067039.1","NP_067039.1","58491","13141","194545","CCDS12947.1","11838","endothelial zinc finger protein induced by tumor necrosis factor alpha",null,"True","G/C/T","rs11672542","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","120","SNV","0.7568,,0.2432","True","G/T","rs11672542",null,17220,"1218","0.243211",5008,854,182,"201","0.289625",694,153,24,"262","0.198185",1322,200,31,"309","0.315951",978,215,47,"375","0.372763",1006,223,76,"71","0.0704365",1008,63,4,"False"]
["19:57984426","C/A",null,"PASS","0.388889","11,7",18,99,"0/1","ZNF772","3_prime_UTR_variant","Other","NM_001024596.2","NM_001024596.2:c.*216G>T",null,"NM_001024596.2,NM_001330613.1,NM_001144068.1","5,3,4",",,","ZNF772,ZNF772,ZNF772","NM_001024596.2,NM_001330613.1,NM_001144068.1","mRNA,mRNA,mRNA","mRNA,mRNA,mRNA","-,-,-","NP_001019767.1,NP_001317542.1,NP_001137540.1","NP_001019767.1,NP_001317542.1,NP_001137540.1","400720,400720,400720","33106,33106,33106",",,","CCDS33133.1,CCDS82406.1,CCDS46210.1",",,","zinc finger protein 772 isoform 1,zinc finger protein 772 isoform 3,zinc finger protein 772 isoform 2",",,","True","C/A","rs10407042","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","119","SNV","0.5867,0.4133","True","C/A","rs10407042",null,20215,"2070","0.413339",5008,1086,492,"313","0.451009",694,143,85,"416","0.314675",1322,272,72,"467","0.477505",978,237,115,"280","0.27833",1006,188,46,"594","0.589286",1008,246,174,"False"]
["19:58452693","C/T",null,"PASS","0.5","54,54",108,99,"0/1","ZNF256","missense_variant","Missense","NM_005773.2","NM_005773.2:c.1483G>A","NP_005764.2:p.Glu495Lys","NM_005773.2","3","78.6624","ZNF256","NM_005773.2","mRNA","mRNA","-","NP_005764.2","NP_005764.2","10172","13049","606956","CCDS12966.1",null,"zinc finger protein 256",null,"True","C/T","rs79816202","Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,Marker on high density genotype kit (50K+),1000 Genome phase 1,1000 Genome phase 3","132","SNV","0.999,0.0009984","False","C/T","rs79816202","EX_TARGET",21189,"5","0.000998403",5008,5,0,"1","0.00144092",694,1,0,"0","0",1322,0,0,"0","0",978,0,0,"4","0.00397614",1006,4,0,"0","0",1008,0,0,"True","esv3644913","Gain","<CN2>","DUP_gs","EX_TARGET","13057","1","0.000199681","5008","1","0","1","0.00144092","694","1","0","0","0","1322","0","0","0","0","978","0","0","0","0","1006","0","0","0","0","1008","0","0"]
["19:58989495","A/C",null,"PASS","0.495146","52,51",103,99,"0/1","ZNF446","missense_variant","Missense","NM_017908.3","NM_017908.3:c.574A>C","NP_060378.1:p.Asn192His","NM_017908.3,NM_001304453.1","4,3","42.3503,62.623","ZNF446,ZNF446","NM_017908.3,NM_001304453.1","mRNA,mRNA","mRNA,mRNA","+,+","NP_060378.1,NP_001291382.1","NP_060378.1,NP_001291382.1","55663,55663","21036,21036",",","CCDS12982.1,",",","zinc finger protein 446 isoform 1,zinc finger protein 446 isoform 2",",","True","A/C","rs893185","RS orientation is reversed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","86","SNV","0.5597,0.4403","True","A/C","rs893185","EX_TARGET",18796,"2205","0.440296",5008,1165,520,"246","0.354467",694,160,43,"805","0.608926",1322,303,251,"361","0.369121",978,221,70,"473","0.470179",1006,247,113,"320","0.31746",1008,234,43,"False"]
["20:1592120","G/T",null,"FS60,SOR3","0.0853659","75,7",82,59,"0/1","SIRPB1","missense_variant","Missense","NM_006065.4","NM_006065.4:c.76+8395C>A",null,"NM_001083910.3,NM_006065.4,NM_001329157.1,NM_001135844.3","1,1,2,2",",,26.3158,26.3158","SIRPB1,SIRPB1,SIRPB1,SIRPB1","NM_001083910.3,NM_006065.4,NM_001329157.1,NM_001135844.3","mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA","-,-,-,-","NP_001077379.1,NP_006056.2,NP_001316086.1,NP_001129316.1","NP_001077379.1,NP_006056.2,NP_001316086.1,NP_001129316.1","10326,10326,10326,10326","15928,15928,15928,15928","603889,603889,603889,603889","CCDS42850.1,CCDS13019.1,CCDS46571.1,CCDS46571.1",",,,","signal-regulatory protein beta-1 isoform 2 precursor,signal-regulatory protein beta-1 isoform 1 precursor,signal-regulatory protein beta-1 isoform 3 precursor,signal-regulatory protein beta-1 isoform 3 precursor",",,,","True","G/A/T","rs1135201","RS orientation is reversed,Has 3D structure,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1","86","SNV",{"$nulls":36},"True","esv3644983,esv3644984","Loss,Loss","<CN0>,<CN0>","DEL_union,DEL_union","EX_TARGET,EX_TARGET","20713,5030","4099,3791","0.81849,0.756989","5008,5008","719,875","1690,1458","453,408","0.652738,0.587896","694,694","157,158","148,125","1218,1149","0.921331,0.869138","1322,1322","92,147","563,501","840,791","0.858896,0.808793","978,978","114,145","363,323","795,653","0.790258,0.649105","1006,1006","175,245","310,204","793,790","0.786706,0.78373","1008,1008","181,180","306,305"]
["20:3233091","C/A",null,"PASS","0.24","38,12",50,99,"0/1","C20orf194","3_prime_UTR_variant","Other","NM_001009984.2","NM_001009984.2:c.*127G>T",null,"NM_001009984.2","37",null,"C20orf194","NM_001009984.2","mRNA","mRNA","-","NP_001009984.1","NP_001009984.1","25943","17721","614146","CCDS42851.1",null,"uncharacterized protein C20orf194",null,"True","C/A","rs6037515","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","114","SNV","0.7624,0.2376","True","C/A","rs6037515",null,19958,"1190","0.23762",5008,844,173,"130","0.18732",694,104,13,"499","0.377458",1322,289,105,"175","0.178937",978,131,22,"220","0.218688",1006,174,23,"166","0.164683",1008,146,10,"False"]
["20:4706310","T/C",null,"PASS","0.276836","128,49",177,99,"0/1","PRND","3_prime_UTR_variant","Other","NM_012409.3","NM_012409.3:c.*582T>C",null,"NM_012409.3","2",null,"PRND","NM_012409.3","mRNA","mRNA","+","NP_036541.2","NP_036541.2","23627","15748","604263","CCDS13081.1",null,"prion-like protein doppel preproprotein",null,"True","T/C","rs2756261","RS orientation is reversed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","100","SNV","0.4571,0.5429","True","T/C","rs2756261",null,19100,"2719","0.542931",5008,1129,795,"264","0.380403",694,154,55,"904","0.683812",1322,284,310,"665","0.679959",978,215,225,"481","0.478131",1006,249,116,"405","0.401786",1008,227,89,"True","esv3645074","Gain","<CN2>","DUP_delly","IMPRECISE,EX_TARGET","16400","1","0.000199681","5008","1","0","0","0","694","0","0","1","0.00075643","1322","1","0","0","0","978","0","0","0","0","1006","0","0","0","0","1008","0","0"]
["20:4764629","G/A",null,"PASS","0.25","9,3",12,80,"0/1","RASSF2","3_prime_UTR_variant","Other","NM_014737.2","NM_014737.2:c.*290C>T",null,"NM_170774.1,NM_014737.2","11,12",",","RASSF2,RASSF2","NM_170774.1,NM_014737.2","mRNA,mRNA","mRNA,mRNA","-,-","NP_739580.1,NP_055552.1","NP_739580.1,NP_055552.1","9770,9770","9883,9883","609492,609492","CCDS13083.1,CCDS13083.1","15218,15218","ras association domain-containing protein 2,ras association domain-containing protein 2",",","True","G/A","rs3746674","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","107","SNV","0.7652,0.2348","True","G/A","rs3746674",null,21164,"1176","0.234824",5008,826,175,"157","0.226225",694,113,22,"459","0.347201",1322,291,84,"118","0.120654",978,100,9,"148","0.147117",1006,128,10,"294","0.291667",1008,194,50,"True","esv3645074","Gain","<CN2>","DUP_delly","IMPRECISE,EX_TARGET","16400","1","0.000199681","5008","1","0","0","0","694","0","0","1","0.00075643","1322","1","0","0","0","978","0","0","0","0","1006","0","0","0","0","1008","0","0"]
["20:10619390","T/C",null,"PASS","0.258065","138,48",186,99,"0/1","JAG1","3_prime_UTR_variant","Other","NM_000214.2","NM_000214.2:c.*756A>G",null,"NM_000214.2","26",null,"JAG1","NM_000214.2","mRNA","mRNA","-","NP_000205.1","NP_000205.1","182","6188","601920","CCDS13112.1",null,"protein jagged-1 precursor",null,"True","T/C","rs45534738","In 3' UTR,Is Assembly specific,Is Validated,Marker on high density genotype kit (50K+),1000 Genome phase 1,1000 Genome phase 3","127","SNV","0.9974,0.002596","True","T/C","rs45534738",null,16354,"13","0.00259585",5008,13,0,"2","0.00288184",694,2,0,"1","0.00075643",1322,1,0,"0","0",978,0,0,"10","0.00994036",1006,10,0,"0","0",1008,0,0,"False",{"$nulls":36},"T/C","337730","Likely Benign","Likely Benign","Likely benign (2)","(1 Stars) Criteria Provided, Single Submitter","rs45534738","JAG1","182","NC_000020.10:g.10619390T>C","NC_000020.11:g.10638742T>C","LRG_1191t1:c.*756A>G",null,"RCV000283467,RCV000378043","Isolated Nonsyndromic Congenital Heart Disease,Arteriohepatic dysplasia","Likely Benign,Likely Benign","(1 Stars) Criteria Provided, Single Submitter,(1 Stars) Criteria Provided, Single Submitter","2016-06-14,2016-06-14"]
["20:23728342","G/A",null,"PASS","0.655914","32,61",93,99,"0/1","CST1","3_prime_UTR_variant","Other","NM_001898.2","NM_001898.2:c.*111C>T",null,"NM_001898.2","3",null,"CST1","NM_001898.2","mRNA","mRNA","-","NP_001889.2","NP_001889.2","1469","2473","123855","CCDS13160.1","00460","cystatin-SN precursor",null,"True","G/A","rs2982","RS orientation is reversed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","36","SNV","0.7796,0.2204","True","G/A","rs2982",null,13218,"1104","0.220447",5008,788,158,"95","0.136888",694,85,5,"261","0.197428",1322,209,26,"444","0.453988",978,242,101,"164","0.163022",1006,136,14,"140","0.138889",1008,116,12,"True","esv3645531","Loss","<CN0>","DEL_union","EX_TARGET","21516","2","0.000399361","5008","2","0","1","0.00144092","694","1","0","0","0","1322","0","0","1","0.00102249","978","1","0","0","0","1006","0","0","0","0","1008","0","0"]
["20:25207074","T/C",null,"PASS","0.754902","25,77",102,99,"0/1","ENTPD6","3_prime_UTR_variant","Other","NM_001247.4","NM_001247.4:c.*841T>C",null,"NM_001322384.1,NM_001322379.1,NM_001322381.1,NM_001322382.1,NM_001322386.1,NM_001114089.3,NM_001322392.1,NM_001322385.1,NM_001322396.1,NM_001322383.1,NM_001322393.1,NM_001317941.2,NM_001322380.1,NM_001322394.1,NM_001247.4,NM_001322388.1,NM_001322390.1,NM_001322397.1,NM_001322391.1,NM_001322387.1,NM_001322378.1,NM_001322395.1,NM_001322398.1,NM_001322389.1","13,12,12,12,13,14,14,13,15,16,14,15,13,14,15,14,15,15,14,14,15,14,14,13",",,,,,,,,,,,,,,,,,,,,,,,","ENTPD6,ENTPD6,ENTPD6,ENTPD6,ENTPD6,ENTPD6,ENTPD6,ENTPD6,ENTPD6,ENTPD6,ENTPD6,ENTPD6,ENTPD6,ENTPD6,ENTPD6,ENTPD6,ENTPD6,ENTPD6,ENTPD6,ENTPD6,ENTPD6,ENTPD6,ENTPD6,ENTPD6","NM_001322384.1,NM_001322379.1,NM_001322381.1,NM_001322382.1,NM_001322386.1,NM_001114089.3,NM_001322392.1,NM_001322385.1,NM_001322396.1,NM_001322383.1,NM_001322393.1,NM_001317941.2,NM_001322380.1,NM_001322394.1,NM_001247.4,NM_001322388.1,NM_001322390.1,NM_001322397.1,NM_001322391.1,NM_001322387.1,NM_001322378.1,NM_001322395.1,NM_001322398.1,NM_001322389.1","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","+,+,+,+,+,+,+,+,+,+,+,+,+,+,+,+,+,+,+,+,+,+,+,+","NP_001309313.1,NP_001309308.1,NP_001309310.1,NP_001309311.1,NP_001309315.1,NP_001107561.1,NP_001309321.1,NP_001309314.1,NP_001309325.1,NP_001309312.1,NP_001309322.1,NP_001304870.1,NP_001309309.1,NP_001309323.1,NP_001238.2,NP_001309317.1,NP_001309319.1,NP_001309326.1,NP_001309320.1,NP_001309316.1,NP_001309307.1,NP_001309324.1,NP_001309327.1,NP_001309318.1","NP_001309313.1,NP_001309308.1,NP_001309310.1,NP_001309311.1,NP_001309315.1,NP_001107561.1,NP_001309321.1,NP_001309314.1,NP_001309325.1,NP_001309312.1,NP_001309322.1,NP_001304870.1,NP_001309309.1,NP_001309323.1,NP_001238.2,NP_001309317.1,NP_001309319.1,NP_001309326.1,NP_001309320.1,NP_001309316.1,NP_001309307.1,NP_001309324.1,NP_001309327.1,NP_001309318.1","955,955,955,955,955,955,955,955,955,955,955,955,955,955,955,955,955,955,955,955,955,955,955,955","3368,3368,3368,3368,3368,3368,3368,3368,3368,3368,3368,3368,3368,3368,3368,3368,3368,3368,3368,3368,3368,3368,3368,3368","603160,603160,603160,603160,603160,603160,603160,603160,603160,603160,603160,603160,603160,603160,603160,603160,603160,603160,603160,603160,603160,603160,603160,603160",",,,,,CCDS46586.1,,,,,,CCDS82604.1,,,CCDS13170.1,CCDS82603.1,,,,,CCDS13170.1,,,",",,,,,,,,,,,,,,,,,,,,,,,","ectonucleoside triphosphate diphosphohydrolase 6 isoform 6,ectonucleoside triphosphate diphosphohydrolase 6 isoform 4,ectonucleoside triphosphate diphosphohydrolase 6 isoform 5,ectonucleoside triphosphate diphosphohydrolase 6 isoform 6,ectonucleoside triphosphate diphosphohydrolase 6 isoform 8,ectonucleoside triphosphate diphosphohydrolase 6 isoform 2,ectonucleoside triphosphate diphosphohydrolase 6 isoform 13,ectonucleoside triphosphate diphosphohydrolase 6 isoform 7,ectonucleoside triphosphate diphosphohydrolase 6 isoform 17,ectonucleoside triphosphate diphosphohydrolase 6 isoform 6,ectonucleoside triphosphate diphosphohydrolase 6 isoform 14,ectonucleoside triphosphate diphosphohydrolase 6 isoform 3,ectonucleoside triphosphate diphosphohydrolase 6 isoform 5,ectonucleoside triphosphate diphosphohydrolase 6 isoform 15,ectonucleoside triphosphate diphosphohydrolase 6 isoform 1,ectonucleoside triphosphate diphosphohydrolase 6 isoform 10,ectonucleoside triphosphate diphosphohydrolase 6 isoform 12,ectonucleoside triphosphate diphosphohydrolase 6 isoform 18,ectonucleoside triphosphate diphosphohydrolase 6 isoform 12,ectonucleoside triphosphate diphosphohydrolase 6 isoform 9,ectonucleoside triphosphate diphosphohydrolase 6 isoform 1,ectonucleoside triphosphate diphosphohydrolase 6 isoform 16,ectonucleoside triphosphate diphosphohydrolase 6 isoform 19,ectonucleoside triphosphate diphosphohydrolase 6 isoform 11",",,,,,,,,,,,,,,,,,,,,,,,","True","T/C","rs7453","Variant is Precious,Links exist to PubMed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","52","SNV","0.3934,0.6066","True","T/C","rs7453",null,18602,"3038","0.606629",5008,970,1034,"233","0.335735",694,141,46,"950","0.718608",1322,266,342,"487","0.497955",978,241,123,"446","0.44334",1006,244,101,"922","0.914683",1008,78,422,"True","esv3645575,esv3645577","Gain,Gain","<CN2>,<CN2>","DUP_uwash,DUP_delly","EX_TARGET,IMPRECISE,EX_TARGET","17196,17126","3,2","0.000599042,0.000399361","5008,5008","1,2","1,0","0,0","0,0","694,694","0,0","0,0","3,2","0.00226929,0.00151286","1322,1322","1,2","1,0","0,0","0,0","978,978","0,0","0,0","0,0","0,0","1006,1006","0,0","0,0","0,0","0,0","1008,1008","0,0","0,0"]
["20:31350238","C/T",null,"PASS","0.8125","3,13",16,41,"0/1","DNMT3B","5_prime_UTR_variant","Other","NM_006892.3","NM_006892.3:c.-274C>T",null,"NM_175848.1,NM_175849.1,NM_001207055.1,NM_001207056.1,NM_006892.3","1,1,1,1,1",",,,,","DNMT3B,DNMT3B,DNMT3B,DNMT3B,DNMT3B","NM_175848.1,NM_175849.1,NM_001207055.1,NM_001207056.1,NM_006892.3","mRNA,mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA,mRNA","+,+,+,+,+","NP_787044.1,NP_787045.1,NP_001193984.1,NP_001193985.1,NP_008823.1","NP_787044.1,NP_787045.1,NP_001193984.1,NP_001193985.1,NP_008823.1","1789,1789,1789,1789,1789","2979,2979,2979,2979,2979","602900,602900,602900,602900,602900","CCDS13206.1,CCDS13207.1,CCDS56183.1,CCDS56184.1,CCDS13205.1","04209,04209,04209,04209,04209","DNA (cytosine-5)-methyltransferase 3B isoform 2,DNA (cytosine-5)-methyltransferase 3B isoform 3,DNA (cytosine-5)-methyltransferase 3B isoform 7,DNA (cytosine-5)-methyltransferase 3B isoform 8,DNA (cytosine-5)-methyltransferase 3B isoform 1",",,,,LRG_56t1","True","C/T","rs139762513","Has SubmitterLinkOut,In 5' UTR,Is Assembly specific,Is Validated,1000 Genome phase 1,1000 Genome phase 3","134","SNV","0.9908,0.009185","True","C/T","rs139762513","EX_TARGET",4905,"46","0.0091853",5008,46,0,"8","0.0115274",694,8,0,"0","0",1322,0,0,"5","0.00511247",978,5,0,"33","0.0328032",1006,33,0,"0","0",1008,0,0,"False",{"$nulls":36},"C/T","338146","Uncertain Significance","Uncertain Significance","Uncertain significance (1)","(1 Stars) Criteria Provided, Single Submitter","rs139762513","DNMT3B","1789","NC_000020.10:g.31350238C>T","NC_000020.11:g.32762432C>T","NM_006892.3:c.-274C>T",null,"RCV000378601","Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency","Uncertain Significance","(1 Stars) Criteria Provided, Single Submitter","2016-06-14"]
["20:34820056","G/A",null,"PASS","0.681818","14,30",44,99,"0/1","EPB41L1","3_prime_UTR_variant","Other","NM_012156.2","NM_012156.2:c.*2794G>A",null,"NM_001258331.1,NM_001258330.1,NM_177996.2,NM_001258329.1,NM_012156.2","20,21,20,23,22",",,,,","EPB41L1,EPB41L1,EPB41L1,EPB41L1,EPB41L1","NM_001258331.1,NM_001258330.1,NM_177996.2,NM_001258329.1,NM_012156.2","mRNA,mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA,mRNA","+,+,+,+,+","NP_001245260.1,NP_001245259.1,NP_818932.1,NP_001245258.1,NP_036288.2","NP_001245260.1,NP_001245259.1,NP_818932.1,NP_001245258.1,NP_036288.2","2036,2036,2036,2036,2036","3378,3378,3378,3378,3378","602879,602879,602879,602879,602879","CCDS13272.1,CCDS58770.1,CCDS13272.1,CCDS58771.1,CCDS13271.1","04193,04193,04193,04193,04193","band 4.1-like protein 1 isoform b,band 4.1-like protein 1 isoform d,band 4.1-like protein 1 isoform b,band 4.1-like protein 1 isoform c,band 4.1-like protein 1 isoform a",",,,,","True","G/A","rs41293100","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","127","SNV","0.9882,0.01178","True","G/A","rs41293100",null,20006,"59","0.0117812",5008,57,1,"17","0.0244957",694,15,1,"0","0",1322,0,0,"10","0.0102249",978,10,0,"32","0.0318091",1006,32,0,"0","0",1008,0,0,"False"]
["20:35090820","C/G",null,"PASS","0.627451","19,32",51,99,"0/1","DLGAP4","5_prime_UTR_variant","Other","NM_014902.5","NM_014902.5:c.1648+15480C>G",null,"NM_014902.5,NM_001042486.3,NM_183006.3","7,1,1",",,","DLGAP4,DLGAP4,DLGAP4","NM_014902.5,NM_001042486.3,NM_183006.3","mRNA,mRNA,mRNA","mRNA,mRNA,mRNA","+,+,+","NP_055717.2,NP_001035951.1,NP_892118.1","NP_055717.2,NP_001035951.1,NP_892118.1","22839,22839,22839","24476,24476,24476","616191,616191,616191","CCDS13274.1,,CCDS13275.1",",,","disks large-associated protein 4 isoform a,disks large-associated protein 4 isoform c,disks large-associated protein 4 isoform b",",,","True","C/G","rs1275391","RS orientation is reversed,Has SubmitterLinkOut,In 5' UTR,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","87","SNV","0.4407,0.5593","True","C/G","rs1275391",null,14087,"2801","0.559305",5008,1057,872,"455","0.65562",694,169,143,"299","0.226172",1322,229,35,"620","0.633947",978,230,195,"775","0.770378",1006,191,292,"652","0.646825",1008,238,207,"False"]
["20:42965841","T/G",null,"PASS","0.258065","115,40",155,99,"0/1","R3HDML","missense_variant","Missense","NM_178491.3","NM_178491.3:c.44T>G","NP_848586.1:p.Phe15Cys","NM_178491.3","1","5.64304","R3HDML","NM_178491.3","mRNA","mRNA","+","NP_848586.1","NP_848586.1","140902","16249",null,"CCDS13329.1","17945","peptidase inhibitor R3HDML precursor",null,"True","T/G","rs11699901","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","120","SNV","0.9361,0.0639","True","T/G","rs11699901","EX_TARGET",17053,"320","0.0638978",5008,296,12,"72","0.103746",694,66,3,"52","0.0393343",1322,50,1,"54","0.0552147",978,50,2,"142","0.141153",1006,130,6,"0","0",1008,0,0,"True","esv3645906","Gain","<CN2>","DUP_delly","IMPRECISE,EX_TARGET","18478","1","0.000199681","5008","1","0","1","0.00144092","694","1","0","0","0","1322","0","0","0","0","978","0","0","0","0","1006","0","0","0","0","1008","0","0"]
["20:45817149","G/A",null,"PASS","0.342105","75,39",114,99,"0/1","EYA2","3_prime_UTR_variant","Other","NM_005244.4","NM_005244.4:c.*368G>A",null,"NM_005244.4,NM_172110.3","16,14",",","EYA2,EYA2","NM_005244.4,NM_172110.3","mRNA,mRNA","mRNA,mRNA","+,+","NP_005235.3,NP_742108.2","NP_005235.3,NP_742108.2","2139,2139","3520,3520","601654,601654","CCDS13403.1,CCDS54471.1","09041,09041","eyes absent homolog 2 isoform a,eyes absent homolog 2 isoform c",",","True","G/A","rs1046661","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","86","SNV","0.4355,0.5645","True","G/A","rs1046661",null,19163,"2827","0.564497",5008,1053,887,"270","0.389049",694,154,58,"1148","0.868381",1322,160,494,"402","0.411043",978,226,88,"489","0.486084",1006,255,117,"518","0.513889",1008,258,130,"False"]
["20:48604985","A/C",null,"PASS","0.206897","92,24",116,99,"0/1","SNAI1","3_prime_UTR_variant","Other","NM_005985.3","NM_005985.3:c.*392A>C",null,"NM_005985.3","3",null,"SNAI1","NM_005985.3","mRNA","mRNA","+","NP_005976.2","NP_005976.2","6615","11128","604238","CCDS13423.1","05025","zinc finger protein SNAI1",null,"True","A/C","rs1063211","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","86","SNV","0.6024,0.3976","True","A/C","rs1063211",null,13658,"1991","0.397564",5008,1045,473,"302","0.435158",694,188,57,"162","0.122542",1322,136,13,"596","0.609407",978,232,182,"415","0.412525",1006,235,90,"516","0.511905",1008,254,131,"False"]
["20:56141221","G/A",null,"PASS","0.166667","40,8",48,73,"0/1","PCK1","3_prime_UTR_variant","Other","NM_002591.3","NM_002591.3:c.*361G>A",null,"NM_002591.3","10",null,"PCK1","NM_002591.3","mRNA","mRNA","+","NP_002582.3","NP_002582.3","5105","8724","614168","CCDS13460.1",null,"phosphoenolpyruvate carboxykinase, cytosolic [GTP]",null,"True","G/A","rs878859807","In 3' UTR,Is Assembly specific","147","SNV",{"$nulls":36},"False",{"$nulls":36},"G/A","338914","Uncertain Significance","Uncertain Significance","Uncertain significance (1)","(1 Stars) Criteria Provided, Single Submitter","rs878859807","PCK1","5105","NC_000020.10:g.56141221G>A","NC_000020.11:g.57566165G>A","NM_002591.3:c.*361G>A",null,"RCV000332918","Phosphoenolpyruvate carboxykinase (GTP) deficiency","Uncertain Significance","(1 Stars) Criteria Provided, Single Submitter","2016-06-14"]
["20:57599434","C/T",null,"PASS","0.288","89,36",125,99,"0/1","TUBB1","missense_variant","Missense","NM_030773.3","NM_030773.3:c.952C>T","NP_110400.1:p.Arg318Trp","NM_030773.3","4","70.1327","TUBB1","NM_030773.3","mRNA","mRNA","+","NP_110400.1","NP_110400.1","81027","16257","612901","CCDS13475.1","18243","tubulin beta-1 chain","LRG_581t1","True","C/T","rs121918555","Variant is Precious,Has 3D structure,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,1000 Genome phase 1,1000 Genome phase 3,Submitted from a locus-specific database,Has OMIM/OMIA","133","SNV","0.9998,0.0001997","False","C/T","rs121918555","EX_TARGET",19575,"1","0.000199681",5008,1,0,"0","0",694,0,0,"0","0",1322,0,0,"0","0",978,0,0,"0","0",1006,0,0,"1","0.000992064",1008,1,0,"False",{"$nulls":36},"C/T","425","Pathogenic","Pathogenic","Pathogenic (1)","(0 Stars) No Assertion Criteria Provided","rs121918555","TUBB1","81027","NC_000020.10:g.57599434C>T","NC_000020.11:g.59024379C>T","NM_030773.3:c.952C>T","NP_110400.1:p.Arg318Trp","RCV000000453","MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED","Pathogenic","(0 Stars) No Assertion Criteria Provided","2009-01-08"]
["20:61463501","T/C",null,"PASS","0.677852","48,101",149,99,"0/1","COL9A3","splice_region_variant","Other","NM_001853.3","NM_001853.3:c.1288-5T>C",null,"NM_001853.3","25",null,"COL9A3","NM_001853.3","mRNA","mRNA","+","NP_001844.3","NP_001844.3","1299","2219","120270","CCDS13505.1",null,"collagen alpha-3(IX) chain precursor",null,"True","T/C","rs741758","RS orientation is reversed,Has SubmitterLinkOut,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","86","SNV","0.6895,0.3105","True","T/C","rs741758","EX_TARGET",20535,"1555","0.310503",5008,929,313,"195","0.28098",694,131,32,"650","0.491679",1322,296,177,"259","0.264826",978,181,39,"334","0.332008",1006,226,54,"117","0.116071",1008,95,11,"False",{"$nulls":36},"T/C","195872","Benign","Benign","Benign (4)","(2 Stars) Criteria Provided, Multiple Submitters, No Conflicts","rs741758","COL9A3","1299","NC_000020.10:g.61463501T>C","NC_000020.11:g.62832149T>C","NM_001853.4:c.1288-5T>C",null,"RCV000176545,RCV000399284","not specified,Multiple Epiphyseal Dysplasia, Dominant","Benign,Benign","(2 Stars) Criteria Provided, Multiple Submitters, No Conflicts,(1 Stars) Criteria Provided, Single Submitter","2017-05-19,2016-06-14"]
["20:62203960","A/G",null,"PASS","0.333333","36,18",54,99,"0/1","HELZ2","5_prime_UTR_variant","Other","NM_001037335.2","NM_001037335.2:c.-222T>C",null,"NM_001037335.2","2",null,"HELZ2","NM_001037335.2","mRNA","mRNA","-","NP_001032412.2","NP_001032412.2","85441","30021","611265","CCDS33508.1",null,"helicase with zinc finger domain 2 isoform 1",null,"True","A/G","rs13042172","Has SubmitterLinkOut,In 5' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","121","SNV","0.6048,0.3952","True","A/G","rs13042172",null,15466,"1979","0.395168",5008,1123,428,"151","0.217579",694,117,17,"550","0.416036",1322,326,112,"436","0.445808",978,244,96,"249","0.247515",1006,185,32,"593","0.588294",1008,251,171,"False"]
["21:11026782","G/A",null,"PASS","0.306773","348,154",502,99,"0/1","BAGE2","3_prime_UTR_variant","Other","NM_182482.2","NM_182482.2:c.*1116C>T",null,"NM_182482.2","8",null,"BAGE2","NM_182482.2","mRNA","mRNA","-","NP_872288.2","NP_872288.2","85319","15723",{"$nulls":3},"B melanoma antigen 2 precursor",null,"True","G/A","rs2740236","RS orientation is reversed,Has SubmitterLinkOut,Has non-synonymous nonsense A coding region,Has reference A coding region,In 3' UTR,Is Assembly specific,Genotypes available","100","SNV",{"$nulls":36},"False"]
["21:15481365","G/T",null,"PASS","0.471429","37,33",70,99,"0/1","LIPI","missense_variant","Missense","NM_198996.3","NM_198996.3:c.1395C>A","NP_945347.2:p.Asp465Glu","NM_198996.3,NM_001303000.1,NM_001302999.1,NM_001302998.1,NM_001303001.1","10,10,9,10,8","96.4039,96.1905,95.9783,96.2401,92.3759","LIPI,LIPI,LIPI,LIPI,LIPI","NM_198996.3,NM_001303000.1,NM_001302999.1,NM_001302998.1,NM_001303001.1","mRNA,mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA,mRNA","-,-,-,-,-","NP_945347.2,NP_001289929.1,NP_001289928.1,NP_001289927.1,NP_001289930.1","NP_945347.2,NP_001289929.1,NP_001289928.1,NP_001289927.1,NP_001289930.1","149998,149998,149998,149998,149998","18821,18821,18821,18821,18821","609252,609252,609252,609252,609252","CCDS13564.1,,,,",",,,,","lipase member I isoform 5,lipase member I isoform 3 precursor,lipase member I isoform 2,lipase member I isoform 1 precursor,lipase member I isoform 4",",,,,","True","G/T","rs7278737","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","116","SNV","0.481,0.519","True","G/T","rs7278737","EX_TARGET",16535,"2599","0.51897",5008,1305,647,"375","0.540346",694,175,100,"665","0.503026",1322,355,155,"540","0.552147",978,242,149,"505","0.501988",1006,255,125,"514","0.509921",1008,278,118,"True","esv3646422","Gain","<CN2>","DUP_gs","EX_TARGET","19652","1","0.000199681","5008","1","0","0","0","694","0","0","0","0","1322","0","0","0","0","978","0","0","0","0","1006","0","0","1","0.000992064","1008","1","0"]
["21:31744127","A/T",null,"PASS","0.462963","58,50",108,99,"0/1","KRTAP13-2","stop_gained","LoF","NM_181621.3","NM_181621.3:c.405T>A","NP_853652.1:p.Cys135Ter","NM_181621.3","1","76.5152","KRTAP13-2","NM_181621.3","mRNA","mRNA","-","NP_853652.1","NP_853652.1","337959","18923",null,"CCDS13589.1","11201","keratin-associated protein 13-2",null,"True","A/G/T","rs877346","RS orientation is reversed,Has SubmitterLinkOut,Has non-synonymous nonsense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","86","SNV","0.6819,,0.3181","True","A/T","rs877346","EX_TARGET",17991,"1593","0.318091",5008,995,299,"241","0.347262",694,155,43,"222","0.167927",1322,178,22,"408","0.417178",978,228,90,"451","0.44831",1006,245,103,"271","0.268849",1008,189,41,"False"]
["21:34444137","G/A",null,"PASS","0.487179","40,38",78,99,"0/1","OLIG1","3_prime_UTR_variant","Other","NM_138983.2","NM_138983.2:c.*769G>A",null,"NM_138983.2","1",null,"OLIG1","NM_138983.2","mRNA","mRNA","+","NP_620450.2","NP_620450.2","116448","16983","606385","CCDS42920.2",null,"oligodendrocyte transcription factor 1",null,"True","G/A","rs11554600","Has SubmitterLinkOut,In 3' UTR,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","120","SNV","0.8786,0.1214","True","G/A","rs11554600",null,18265,"608","0.121406",5008,490,59,"72","0.103746",694,70,1,"146","0.110439",1322,122,12,"225","0.230061",978,155,35,"118","0.117296",1006,100,9,"47","0.046627",1008,43,2,"False"]
["21:34668976","G/A",null,"PASS","0.666667","1,2",3,23,"0/1","IL10RB","3_prime_UTR_variant","Other","NM_000628.4","NM_000628.4:c.*314G>A",null,"NM_000628.4","7",null,"IL10RB","NM_000628.4","mRNA","mRNA","+","NP_000619.3","NP_000619.3","3588","5965","123889","CCDS13623.1","00473","interleukin-10 receptor subunit beta precursor",null,"True","G/A","rs8178562","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","117","SNV","0.8079,0.1921","True","G/A","rs8178562",null,18401,"962","0.192093",5008,692,135,"132","0.190202",694,112,10,"7","0.00529501",1322,7,0,"262","0.267894",978,192,35,"186","0.184891",1006,144,21,"375","0.372024",1008,237,69,"False",{"$nulls":36},"G/A","339700","Benign","Benign","Benign (1)","(1 Stars) Criteria Provided, Single Submitter","rs8178562","IL10RB","3588","NC_000021.8:g.34668976G>A","NC_000021.9:g.33296671G>A","NM_000628.4:c.*314G>A",null,"RCV000366107","Inflammatory bowel disease","Benign","(1 Stars) Criteria Provided, Single Submitter","2016-06-14"]
["21:41137507","G/C",null,"PASS","0.481481","70,65",135,99,"0/1","IGSF5","missense_variant","Missense","NM_001080444.1","NM_001080444.1:c.146G>C","NP_001073913.1:p.Arg49Thr","NM_001080444.1","3","11.8464","IGSF5","NM_001080444.1","mRNA","mRNA","+","NP_001073913.1","NP_001073913.1","150084","5952","610638","CCDS33562.1",null,"immunoglobulin superfamily member 5",null,"True","G/C","rs2205204","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","96","SNV","0.3405,0.6595","True","G/C","rs2205204","EX_TARGET",19828,"3303","0.659545",5008,981,1161,"521","0.75072",694,125,198,"565","0.427383",1322,301,132,"738","0.754601",978,180,279,"744","0.739563",1006,190,277,"735","0.729167",1008,185,275,"False"]
["21:43786512","C/T",null,"PASS","0.586957","19,27",46,99,"0/1","TFF1","splice_region_variant","Other","NM_003225.2","NM_003225.2:c.85+8G>A",null,"NM_003225.2","1",null,"TFF1","NM_003225.2","mRNA","mRNA","-","NP_003216.1","NP_003216.1","7031","11755","113710","CCDS13685.1","00219","trefoil factor 1 precursor",null,"True","C/T","rs225358","Has SubmitterLinkOut,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","79","SNV","0.4912,0.5088","True","C/T","rs225358","EX_TARGET",14680,"2548","0.508786",5008,1106,721,"464","0.668588",694,160,152,"590","0.446294",1322,306,142,"541","0.55317",978,237,152,"697","0.692843",1006,221,238,"256","0.253968",1008,182,37,"False"]
["21:44293744","C/G",null,"PASS","0.45283","58,48",106,99,"0/1","WDR4","missense_variant","Missense","NM_018669.5","NM_018669.5:c.213G>C","NP_061139.2:p.Lys71Asn","NM_033661.4,NM_001260477.1,NM_018669.5,NM_001260474.1,NM_001260475.1,NM_001260476.1","3,3,3,3,3,3","17.1106,,17.1106,17.1521,,","WDR4,WDR4,WDR4,WDR4,WDR4,WDR4","NM_033661.4,NM_001260477.1,NM_018669.5,NM_001260474.1,NM_001260475.1,NM_001260476.1","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","-,-,-,-,-,-","NP_387510.1,NP_001247406.1,NP_061139.2,NP_001247403.1,NP_001247404.1,NP_001247405.1","NP_387510.1,NP_001247406.1,NP_061139.2,NP_001247403.1,NP_001247404.1,NP_001247405.1","10785,10785,10785,10785,10785,10785","12756,12756,12756,12756,12756,12756","605924,605924,605924,605924,605924,605924","CCDS13691.1,,CCDS13691.1,,,","09330,09330,09330,09330,09330,09330","tRNA (guanine-N(7)-)-methyltransferase non-catalytic subunit WDR4 isoform 1,tRNA (guanine-N(7)-)-methyltransferase non-catalytic subunit WDR4 isoform 3,tRNA (guanine-N(7)-)-methyltransferase non-catalytic subunit WDR4 isoform 1,tRNA (guanine-N(7)-)-methyltransferase non-catalytic subunit WDR4 isoform 2,tRNA (guanine-N(7)-)-methyltransferase non-catalytic subunit WDR4 isoform 3,tRNA (guanine-N(7)-)-methyltransferase non-catalytic subunit WDR4 isoform 3",",,,,,","True","C/G","rs2248490","Has 3D structure,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,In 5' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","100","SNV","0.497,0.503","True","C/G","rs2248490","EX_TARGET",22051,"2519","0.502995",5008,1151,684,"222","0.319885",694,150,36,"963","0.728442",1322,267,348,"466","0.476483",978,246,110,"529","0.525845",1006,257,136,"339","0.33631",1008,231,54,"False"]
["21:45978592","T/C",null,"PASS","0.409639","49,34",83,99,"0/1","KRTAP10-3,TSPEAR","missense_variant","Missense","NM_198696.2,NM_144991.2","NM_198696.2:c.7A>G,NM_144991.2:c.303+9077A>G","NP_941969.2:p.Thr3Ala,","NM_001272037.1,NM_144991.2,NM_198696.2","3,2,1",",,0.900901","TSPEAR,TSPEAR,KRTAP10-3","NM_001272037.1,NM_144991.2,NM_198696.2","mRNA,mRNA,mRNA","mRNA,mRNA,mRNA","-,-,-","NP_001258966.1,NP_659428.2,NP_941969.2","NP_001258966.1,NP_659428.2,NP_941969.2","54084,54084,386682","1268,1268,22968","612920,612920,","CCDS74801.1,CCDS13712.1,CCDS42956.1","09845,09845,","thrombospondin-type laminin G domain and EAR repeat-containing protein isoform 2,thrombospondin-type laminin G domain and EAR repeat-containing protein isoform 1 precursor,keratin-associated protein 10-3",",,","True","T/C","rs452472","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","80","SNV","0.7869,0.2131","True","T/C","rs452472","EX_TARGET",17698,"1067","0.213059",5008,799,134,"180","0.259366",694,128,26,"196","0.14826",1322,170,13,"154","0.157464",978,124,15,"339","0.336978",1006,227,56,"198","0.196429",1008,150,24,"True","esv3647132","Gain","<CN2>","DUP_gs","EX_TARGET","19196","1","0.000199681","5008","1","0","0","0","694","0","0","1","0.00075643","1322","1","0","0","0","978","0","0","0","0","1006","0","0","0","0","1008","0","0","T/C","221312","Uncertain Significance","Uncertain Significance","Uncertain significance (1)","(0 Stars) No Assertion Criteria Provided","rs452472","TSPEAR,KRTAP10-3","54084,386682","NC_000021.8:g.45978592T>C","NC_000021.9:g.44558709T>C","NM_198696.2:c.7A>G","NP_941969.2:p.Thr3Ala","RCV000207142","Ductal breast carcinoma","Uncertain Significance","(0 Stars) No Assertion Criteria Provided","2015-07-20"]
["21:47401760","C/G",null,"PASS","0.615385","10,16",26,99,"0/1","COL6A1","5_prime_UTR_variant","Other","NM_001848.2","NM_001848.2:c.-5C>G",null,"NM_001848.2","1",null,"COL6A1","NM_001848.2","mRNA","mRNA","+","NP_001839.2","NP_001839.2","1291","2211","120220","CCDS13727.1",null,"collagen alpha-1(VI) chain precursor","LRG_475t1","True","C/G","rs7671","RS orientation is reversed,Variant is Precious,Links exist to PubMed,Has SubmitterLinkOut,In 5' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,1000 Genome phase 1,1000 Genome phase 3","52","SNV","0.4635,0.5365","True","C/G","rs7671","EX_TARGET",7341,"2687","0.536542",5008,1009,839,"427","0.615274",694,159,134,"318","0.240545",1322,226,46,"629","0.643149",978,215,207,"519","0.515905",1006,245,137,"794","0.787698",1008,164,315,"False",{"$nulls":36},"C/G","93792","Benign","Benign","Benign (5)","(2 Stars) Criteria Provided, Multiple Submitters, No Conflicts","rs7671","COL6A1","1291","NC_000021.8:g.47401760C>G","NC_000021.9:g.45981846C>G","LRG_475t1:c.-5C>G",null,"RCV000079729,RCV000314940","not specified,Collagen VI-related myopathy","Benign,Benign","(2 Stars) Criteria Provided, Multiple Submitters, No Conflicts,(1 Stars) Criteria Provided, Single Submitter","2016-05-20,2016-06-14"]
["21:47635176","T/C",null,"PASS","0.52","24,26",50,99,"0/1","LSS","missense_variant","Missense","NM_002340.5","NM_002340.5:c.929A>G","NP_002331.3:p.His310Arg","NM_001001438.2,NM_001145436.1,NM_002340.5,NM_001145437.1","9,9,9,8","42.201,41.3204,42.201,35.12","LSS,LSS,LSS,LSS","NM_001001438.2,NM_001145436.1,NM_002340.5,NM_001145437.1","mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA","-,-,-,-","NP_001001438.1,NP_001138908.1,NP_002331.3,NP_001138909.1","NP_001001438.1,NP_001138908.1,NP_002331.3,NP_001138909.1","4047,4047,4047,4047","6708,6708,6708,6708","600909,600909,600909,600909","CCDS13733.1,CCDS46654.1,CCDS13733.1,CCDS54489.1",",,,","lanosterol synthase isoform 1,lanosterol synthase isoform 2,lanosterol synthase isoform 1,lanosterol synthase isoform 3",",,,","True","T/C","rs34115287","RS orientation is reversed,Variant is Precious,Links exist to PubMed,Has 3D structure,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","126","SNV","0.8826,0.1174","True","T/C","rs34115287","EX_TARGET",12370,"588","0.117412",5008,496,46,"66","0.0951009",694,58,4,"168","0.12708",1322,140,14,"80","0.0817996",978,68,6,"190","0.188867",1006,148,21,"84","0.0833333",1008,82,1,"False"]
["22:17598512","G/A",null,"PASS","0.4375","9,7",16,99,"0/1","CECR6","3_prime_UTR_variant","Other","NM_031890.3","NM_031890.3:c.*1769C>T",null,"NM_031890.3,NM_001163079.1","1,2",",","CECR6,CECR6","NM_031890.3,NM_001163079.1","mRNA,mRNA","mRNA,mRNA","-,-","NP_114096.1,NP_001156551.1","NP_114096.1,NP_001156551.1","27439,27439","1844,1844",",","CCDS13740.1,CCDS54494.1","16704,16704","cat eye syndrome critical region protein 6 isoform a,cat eye syndrome critical region protein 6 isoform b",",","True","G/A","rs45618234","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","127","SNV","0.9065,0.09345","True","G/A","rs45618234",null,16734,"468","0.0934505",5008,394,37,"58","0.0835735",694,48,5,"192","0.145234",1322,158,17,"97","0.099182",978,85,6,"121","0.120278",1006,103,9,"0","0",1008,0,0,"True","esv3647204,esv3647208","Gain,Gain","<CN2>,<CN2>","DUP_gs,DUP_delly","EX_TARGET,IMPRECISE,EX_TARGET","23075,16224","1,1","0.000199681,0.000199681","5008,5008","1,1","0,0","0,0","0,0","694,694","0,0","0,0","0,0","0,0","1322,1322","0,0","0,0","1,1","0.00102249,0.00102249","978,978","1,1","0,0","0,0","0,0","1006,1006","0,0","0,0","0,0","0,0","1008,1008","0,0","0,0"]
["22:20137409","T/C",null,"PASS","0.466667","40,35",75,99,"0/1","CCDC188","5_prime_UTR_variant","Other","NM_001243537.1","NM_001243537.1:c.-148A>G",null,"NM_001243537.1","1",null,"CCDC188","NM_001243537.1","mRNA","mRNA","-","NP_001230466.1","NP_001230466.1","388849","51899",{"$nulls":3},"coiled-coil domain-containing protein 188",null,"True","T/C","rs8142411","Has SubmitterLinkOut,In 5' UTR,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,1000 Genome phase 1,1000 Genome phase 3","116","SNV","0.8532,0.1468","True","T/C","rs8142411",null,13482,"735","0.146765",5008,595,70,"24","0.0345821",694,24,0,"394","0.298033",1322,280,57,"118","0.120654",978,102,8,"66","0.0656064",1006,64,1,"133","0.131944",1008,125,4,"False"]
["22:22116467","C/T",null,"PASS","0.6","2,3",5,64,"0/1","MAPK1","3_prime_UTR_variant","Other","NM_002745.4","NM_002745.4:c.*2072G>A",null,"NM_002745.4","9",null,"MAPK1","NM_002745.4","mRNA","mRNA","-","NP_002736.3","NP_002736.3","5594","6871","176948","CCDS13795.1","01496","mitogen-activated protein kinase 1","LRG_786t1","True","C/T","rs1063311","RS orientation is reversed,Variant is Precious,Links exist to PubMed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","86","SNV","0.6673,0.3327","True","C/T","rs1063311",null,19413,"1666","0.332668",5008,1090,288,"263","0.378963",694,169,47,"450","0.340393",1322,300,75,"307","0.313906",978,213,47,"442","0.439364",1006,236,103,"204","0.202381",1008,172,16,"False"]
["22:24622648","T/C",null,"PASS","0.543689","47,56",103,99,"0/1","GGT5","missense_variant","Missense","NM_001099781.2","NM_001099781.2:c.989A>G","NP_001093251.1:p.Lys330Arg","NM_001302464.1,NM_001099782.2,NM_004121.3,NM_001302465.1,NM_001099781.2","6,6,7,5,7","55.6804,53.5736,56.1045,49.3803,56.0091","GGT5,GGT5,GGT5,GGT5,GGT5","NM_001302464.1,NM_001099782.2,NM_004121.3,NM_001302465.1,NM_001099781.2","mRNA,mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA,mRNA","-,-,-,-,-","NP_001289393.1,NP_001093252.1,NP_004112.2,NP_001289394.1,NP_001093251.1","NP_001289393.1,NP_001093252.1,NP_004112.2,NP_001289394.1,NP_001093251.1","2687,2687,2687,2687,2687","4260,4260,4260,4260,4260","137168,137168,137168,137168,137168",",CCDS42989.1,CCDS13825.1,,CCDS42990.1",",,,,","gamma-glutamyltransferase 5 isoform 4,gamma-glutamyltransferase 5 isoform 3,gamma-glutamyltransferase 5 isoform 2,gamma-glutamyltransferase 5 isoform 5,gamma-glutamyltransferase 5 isoform 1",",,,,","True","T/C","rs2275984","Has 3D structure,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","100","SNV","0.6911,0.3089","True","T/C","rs2275984","EX_TARGET",15944,"1547","0.308906",5008,1039,254,"256","0.368876",694,168,44,"524","0.396369",1322,318,103,"255","0.260736",978,181,37,"300","0.298211",1006,198,51,"212","0.210317",1008,174,19,"False"]
["22:29075651","G/A",null,"QD2,QUAL30","0.166667","5,1",6,27,"0/1","TTC28","stop_gained","LoF","NM_001145418.1","NM_001145418.1:c.61C>T","NP_001138890.1:p.Arg21Ter","NM_001145418.1","1","0.805802","TTC28","NM_001145418.1","mRNA","mRNA","-","NP_001138890.1","NP_001138890.1","23331","29179","615098","CCDS46678.1",null,"tetratricopeptide repeat protein 28",null,"True","G/A","rs180764192","Has non-synonymous nonsense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,1000 Genome phase 1","135","SNV",{"$nulls":36},"False"]
["22:30769906","T/C",null,"PASS","0.264706","25,9",34,99,"0/1","CCDC157","splice_region_variant","Other","NM_001017437.3","NM_001017437.3:c.1504-6T>C",null,"NM_001318334.1,NM_001017437.3","9,9",",","CCDC157,CCDC157","NM_001318334.1,NM_001017437.3","mRNA,mRNA","mRNA,mRNA","+,+","NP_001305263.1,NP_001017437.2","NP_001305263.1,NP_001017437.2","550631,550631","33854,33854",",","CCDS33632.2,CCDS33632.2",",","coiled-coil domain-containing protein 157 isoform 1,coiled-coil domain-containing protein 157 isoform 1",",","True","T/C","rs4820839","Has SubmitterLinkOut,In Intron,In 3' gene region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","111","SNV","0.8464,0.1536","True","T/C","rs4820839","EX_TARGET",19491,"769","0.153554",5008,645,62,"109","0.157061",694,93,8,"176","0.133132",1322,156,10,"81","0.0828221",978,77,2,"256","0.254473",1006,196,30,"147","0.145833",1008,123,12,"False"]
["22:32506050","C/G",null,"PASS","0.527273","52,58",110,99,"0/1","SLC5A1","missense_variant","Missense","NM_000343.3","NM_000343.3:c.1845C>G","NP_000334.1:p.His615Gln","NM_000343.3,NM_001256314.1","15,14","92.4311,90.6444","SLC5A1,SLC5A1","NM_000343.3,NM_001256314.1","mRNA,mRNA","mRNA,mRNA","+,+","NP_000334.1,NP_001243243.1","NP_000334.1,NP_001243243.1","6523,6523","11036,11036","182380,182380","CCDS13902.1,CCDS58805.1","01668,01668","sodium/glucose cotransporter 1 isoform 1,sodium/glucose cotransporter 1 isoform 2",",","True","C/G/T","rs33954001","Provisional Third Party Annotation(TPA),Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","127","SNV","0.9778,0.02216,","True","C/G","rs33954001","EX_TARGET",20384,"111","0.0221645",5008,105,3,"18","0.0259366",694,18,0,"4","0.00302572",1322,4,0,"28","0.0286299",978,24,2,"61","0.0606362",1006,59,1,"0","0",1008,0,0,"True","esv3647597","Gain","<CN2>","DUP_delly","IMPRECISE,EX_TARGET","24658","2","0.000399361","5008","2","0","0","0","694","0","0","0","0","1322","0","0","2","0.00204499","978","2","0","0","0","1006","0","0","0","0","1008","0","0","C/G","341263","Likely Benign","Benign/Likely Benign","Benign (1),Likely benign (1)","(2 Stars) Criteria Provided, Multiple Submitters, No Conflicts","rs33954001","SLC5A1","6523","NC_000022.10:g.32506050C>G","NC_000022.11:g.32110063C>G","NM_000343.3:c.1845C>G","NP_000334.1:p.His615Gln","RCV000318214,RCV000455377","Congenital glucose-galactose malabsorption,not specified","Likely Benign,Benign","(1 Stars) Criteria Provided, Single Submitter,(1 Stars) Criteria Provided, Single Submitter","2016-06-14,2016-03-28"]
["22:32909251","G/A",null,"PASS","0.625","21,35",56,99,"0/1","SYN3","3_prime_UTR_variant","Other","NM_003490.3","NM_003490.3:c.*428C>T",null,"NM_003490.3,NM_133633.2,NM_001135774.1","13,12,14",",,","SYN3,SYN3,SYN3","NM_003490.3,NM_133633.2,NM_001135774.1","mRNA,mRNA,mRNA","mRNA,mRNA,mRNA","-,-,-","NP_003481.3,NP_598344.2,NP_001129246.1","NP_003481.3,NP_598344.2,NP_001129246.1","8224,8224,8224","11496,11496,11496","602705,602705,602705","CCDS13908.1,,",",,","synapsin-3 isoform IIIa,synapsin-3 isoform IIIc,synapsin-3 isoform IIIg",",,","True","G/A","rs11912802","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","120","SNV","0.8103,0.1897","True","G/A","rs11912802",null,20350,"950","0.189696",5008,692,129,"105","0.151297",694,81,12,"19","0.0143722",1322,19,0,"340","0.347648",978,228,56,"264","0.262425",1006,190,37,"222","0.220238",1008,174,24,"False"]
["22:36587223","G/T",null,"PASS","0.564516","27,35",62,99,"0/1","APOL4","missense_variant","Missense","NM_145660.2","NM_145660.2:c.953C>A","NP_663693.1:p.Ala318Glu","NM_145660.2,NM_030643.4","6,7","90.4084,90.3257","APOL4,APOL4","NM_145660.2,NM_030643.4","mRNA,mRNA","mRNA,mRNA","-,-","NP_663693.1,NP_085146.2","NP_663693.1,NP_085146.2","80832,80832","14867,14867","607254,607254","CCDS74852.1,CCDS74851.1","16237,16237","apolipoprotein L4 isoform 2 precursor,apolipoprotein L4 isoform 1",",","True","G/C/T","rs6000173","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","114","SNV","0.3528,,0.6472","True","G/T","rs6000173","EX_TARGET",19045,"3241","0.647165",5008,1067,1087,"369","0.5317",694,163,103,"966","0.730711",1322,264,351,"576","0.588957",978,238,169,"499","0.496024",1006,253,123,"831","0.824405",1008,149,341,"False"]
["22:36900271","T/C",null,"PASS","0.48062","67,62",129,99,"0/1","FOXRED2","missense_variant","Missense","NM_024955.5","NM_024955.5:c.923A>G","NP_079231.4:p.Asn308Ser","NM_024955.5,NM_001102371.1","4,4","44.8662,44.8662","FOXRED2,FOXRED2","NM_024955.5,NM_001102371.1","mRNA,mRNA","mRNA,mRNA","-,-","NP_079231.4,NP_001095841.1","NP_079231.4,NP_001095841.1","80020,80020","26264,26264","613777,613777","CCDS13929.1,CCDS13929.1",",","FAD-dependent oxidoreductase domain-containing protein 2 precursor,FAD-dependent oxidoreductase domain-containing protein 2 precursor",",","True","T/C","rs2277841","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","100","SNV","0.3506,0.6494","True","T/C","rs2277841","EX_TARGET",19966,"3252","0.649361",5008,790,1231,"564","0.81268",694,114,225,"1198","0.906203",1322,102,548,"487","0.497955",978,231,128,"787","0.782306",1006,173,307,"216","0.214286",1008,170,23,"False"]
["22:38615536","A/T",null,"PASS","0.827586","5,24",29,19,"0/1","TMEM184B","3_prime_UTR_variant","Other","NM_012264.4","NM_012264.4:c.*1940T>A",null,"NM_001195071.1,NM_012264.4,NM_001195072.1","9,9,10",",,","TMEM184B,TMEM184B,TMEM184B","NM_001195071.1,NM_012264.4,NM_001195072.1","mRNA,mRNA,mRNA","mRNA,mRNA,mRNA","-,-,-","NP_001182000.1,NP_036396.2,NP_001182001.1","NP_001182000.1,NP_036396.2,NP_001182001.1","25829,25829,25829","1310,1310,1310",",,","CCDS13969.2,CCDS13969.2,",",,","transmembrane protein 184B isoform a,transmembrane protein 184B isoform a,transmembrane protein 184B isoform b",",,","True","A/T","rs1059804","RS orientation is reversed,Variant is Precious,Links exist to PubMed,Has SubmitterLinkOut,In 3' UTR,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","86","SNV","0.2576,0.7424","True","A/T","rs1059804",null,16697,"3718","0.742412",5008,904,1407,"526","0.757925",694,116,205,"1115","0.843419",1322,179,468,"630","0.644172",978,210,210,"719","0.714712",1006,211,254,"728","0.722222",1008,188,270,"False"]
["22:39917515","A/C",null,"PASS","0.482759","45,42",87,99,"0/1","ATF4","missense_variant","Missense","NM_001675.4","NM_001675.4:c.65A>C","NP_001666.2:p.Gln22Pro","NM_001675.4,NM_182810.2","1,2","6.06061,6.06061","ATF4,ATF4","NM_001675.4,NM_182810.2","mRNA,mRNA","mRNA,mRNA","+,+","NP_001666.2,NP_877962.1","NP_001666.2,NP_877962.1","468,468","786,786","604064,604064","CCDS13996.1,CCDS13996.1",",","cyclic AMP-dependent transcription factor ATF-4,cyclic AMP-dependent transcription factor ATF-4",",","True","A/C","rs4894","Variant is Precious,Links exist to PubMed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","52","SNV","0.7262,0.2738","True","A/C","rs4894","EX_TARGET",20063,"1371","0.273762",5008,973,199,"174","0.25072",694,122,26,"338","0.255673",1322,254,42,"336","0.343558",978,220,58,"319","0.317097",1006,207,56,"204","0.202381",1008,170,17,"False"]
["22:44395451","T/C",null,"PASS","0.514563","50,53",103,99,"0/1","PARVB","missense_variant","Missense","NM_001003828.2","NM_001003828.2:c.109T>C","NP_001003828.1:p.Trp37Arg","NM_001003828.2","2","9.04523","PARVB","NM_001003828.2","mRNA","mRNA","+","NP_001003828.1","NP_001003828.1","29780","14653","608121","CCDS46724.1","16284","beta-parvin isoform a",null,"True","T/C","rs1007863","Variant is Precious,Links exist to PubMed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","86","SNV","0.4681,0.5319","True","T/C","rs1007863","EX_TARGET",16851,"2664","0.531949",5008,1202,731,"348","0.501441",694,178,85,"891","0.673979",1322,295,298,"522","0.533742",978,236,143,"437","0.434394",1006,247,95,"466","0.462302",1008,246,110,"False"]
["22:46449891","G/A",null,"PASS","0.461538","7,6",13,99,"0/1","PRR34","missense_variant","Missense","NM_018280.2","NM_018280.2:c.83C>T","NP_060750.1:p.Pro28Leu","NM_018280.2","1","19.6643","PRR34","NM_018280.2","mRNA","mRNA","-","NP_060750.1","NP_060750.1","55267","25606",null,"CCDS14071.1","07717","proline-rich protein 34",null,"True","G/A/C/T","rs12159707","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","120","SNV","0.7362,0.2155,0.04832,","True","G/A","rs12159707","MULTI_ALLELIC,EX_TARGET",6433,"1079","0.215455",5008,815,132,"189","0.272334",694,143,23,"360","0.272315",1322,278,41,"170","0.173824",978,146,12,"332","0.33002",1006,222,55,"28","0.0277778",1008,26,1,"False"]
["22:50637625","A/C",null,"PASS","0.473684","40,36",76,99,"0/1","TRABD","3_prime_UTR_variant","Other","NM_001320484.1","NM_001320484.1:c.*677A>C",null,"NM_001320485.1,NM_025204.3,NM_001320484.1,NM_001320487.1,NM_001320488.1","10,10,10,10,11",",,,,","TRABD,TRABD,TRABD,TRABD,TRABD","NM_001320485.1,NM_025204.3,NM_001320484.1,NM_001320487.1,NM_001320488.1","mRNA,mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA,mRNA","+,+,+,+,+","NP_001307414.1,NP_079480.2,NP_001307413.1,NP_001307416.1,NP_001307417.1","NP_001307414.1,NP_079480.2,NP_001307413.1,NP_001307416.1,NP_001307417.1","80305,80305,80305,80305,80305","28805,28805,28805,28805,28805",",,,,","CCDS14086.1,CCDS14086.1,,CCDS14086.1,CCDS82724.1",",,,,","traB domain-containing protein isoform b,traB domain-containing protein isoform b,traB domain-containing protein isoform a,traB domain-containing protein isoform b,traB domain-containing protein isoform c",",,,,","True","A/C","rs55810238","In 3' UTR,In 5' gene region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),1000 Genome phase 1,1000 Genome phase 3","129","SNV","0.981,0.01897","True","A/C","rs55810238",null,17839,"95","0.0189696",5008,95,0,"18","0.0259366",694,18,0,"3","0.00226929",1322,3,0,"6","0.00613497",978,6,0,"68","0.0675944",1006,68,0,"0","0",1008,0,0,"False"]
["X:3021798","T/C",null,"PASS","0.320896","182,86",268,99,"0/1","ARSF","splice_region_variant","Other","NM_004042.4","NM_004042.4:c.1103-5T>C",null,"NM_001201538.1,NM_001201539.1,NM_004042.4","9,9,9",",,","ARSF,ARSF,ARSF","NM_001201538.1,NM_001201539.1,NM_004042.4","mRNA,mRNA,mRNA","mRNA,mRNA,mRNA","+,+,+","NP_001188467.1,NP_001188468.1,NP_004033.2","NP_001188467.1,NP_001188468.1,NP_004033.2","416,416,416","721,721,721","300003,300003,300003","CCDS14123.1,CCDS14123.1,CCDS14123.1","02049,02049,02049","arylsulfatase F precursor,arylsulfatase F precursor,arylsulfatase F precursor",",,","True","T/C","rs1869561","Has SubmitterLinkOut,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","92","SNV","0.8874,0.1126","True","T/C","rs1869561","EX_TARGET",13313,"425","0.112583",3775,230,169,"73","0.139313",524,37,28,"120","0.119641",1003,64,48,"75","0.104457",718,38,34,"106","0.138381",766,60,40,"51","0.0667539",764,31,19,"False"]
["X:8138375","T/C",null,"MQ40","0.4","9,6",15,99,"0/1","VCX2","missense_variant","Missense","NM_016378.3","NM_016378.3:c.118A>G","NP_057462.2:p.Lys40Glu","NM_016378.3","3","27.8571","VCX2","NM_016378.3","mRNA","mRNA","-","NP_057462.2","NP_057462.2","51480","18158","300532","CCDS35200.1",null,"variable charge X-linked protein 2",null,"True","T/C","rs376363003","Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated","138","SNV",{"$nulls":36},"False"]
["X:13682577","G/A",null,"PASS","0.388889","99,63",162,99,"0/1","TCEANC","3_prime_UTR_variant","Other","NM_152634.3","NM_152634.3:c.*894G>A",null,"NM_001297563.1,NM_001297564.1,NM_152634.3","5,3,4",",,","TCEANC,TCEANC,TCEANC","NM_001297563.1,NM_001297564.1,NM_152634.3","mRNA,mRNA,mRNA","mRNA,mRNA,mRNA","+,+,+","NP_001284492.1,NP_001284493.1,NP_689847.2","NP_001284492.1,NP_001284493.1,NP_689847.2","170082,170082,170082","28277,28277,28277",",,","CCDS75954.1,CCDS75954.1,CCDS48081.1",",,","transcription elongation factor A N-terminal and central domain-containing protein isoform 2,transcription elongation factor A N-terminal and central domain-containing protein isoform 2,transcription elongation factor A N-terminal and central domain-containing protein isoform 1",",,","True","G/A","rs3761625","Has SubmitterLinkOut,In 3' UTR,In 3' gene region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","107","SNV","0.4434,0.5566","True","G/A","rs3761625",null,15439,"2101","0.556556",3775,591,1102,"279","0.532443",524,87,138,"420","0.418744",1003,176,189,"514","0.715877",718,81,308,"388","0.506527",766,133,190,"500","0.65445",764,114,277,"False"]
["X:21876221","A/G",null,"QD2,SOR3","0.0930233","195,20",215,99,"0/1","MBTPS2,YY2","3_prime_UTR_variant","Other","NM_015884.3,NM_206923.3","NM_015884.3:c.670+4600A>G,NM_206923.3:c.*500A>G",",","NM_015884.3,NM_206923.3","5,1",",","MBTPS2,YY2","NM_015884.3,NM_206923.3","mRNA,mRNA","mRNA,mRNA","+,+","NP_056968.1,NP_996806.2","NP_056968.1,NP_996806.2","51360,404281","15455,31684","300294,300570","CCDS14201.1,CCDS14202.1","02243,","membrane-bound transcription factor site-2 protease,transcription factor YY2",",","True","A/G","rs202208699","Has SubmitterLinkOut,In 3' UTR,In Intron,Is Assembly specific","137","SNV",{"$nulls":36},"False"]
["X:34149206","G/T",null,"PASS","0.337017","120,61",181,99,"0/1","FAM47A","missense_variant","Missense","NM_203408.3","NM_203408.3:c.1190C>A","NP_981953.2:p.Ser397Tyr","NM_203408.3","1","50.0421","FAM47A","NM_203408.3","mRNA","mRNA","-","NP_981953.2","NP_981953.2","158724","29962",null,"CCDS43926.1",null,"protein FAM47A",null,"False",{"$nulls":41},"False"]
["X:49179719","C/G",null,"MQRankSum-12.5","0.667532","128,257",385,99,"0/1","GAGE12J","missense_variant","Missense","NM_001098406.2","NM_001098406.2:c.47C>G","NP_001091876.2:p.Pro16Arg","NM_001098406.2","2","12.9944","GAGE12J","NM_001098406.2","mRNA","mRNA","+","NP_001091876.2","NP_001091876.2","729396","17778","300733","CCDS43939.1",null,"G antigen 12J",null,"True","C/G/T","rs6520418","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,1000 Genome phase 1,1000 Genome phase 3","116","SNV","0.6291,0.3709,","True","C/G","rs6520418","EX_TARGET",13658,"1400","0.370861",3775,447,701,"193","0.368321",524,70,92,"96","0.0957129",1003,52,38,"437","0.608635",718,107,245,"416","0.543081",766,108,213,"258","0.337696",764,110,113,"False"]
["X:49370778","C/A",null,"PASS","0.689655","45,100",145,99,"0/1","GAGE1","3_prime_UTR_variant","Other","NM_001040663.2","NM_001040663.2:c.*160C>A",null,"NM_001040663.2","5",null,"GAGE1","NM_001040663.2","mRNA","mRNA","+","NP_001035753.1","NP_001035753.1","2543","4098","300594","CCDS43950.1",null,"G antigen 1",null,"True","C/A/G","rs5906843","Variant is Precious,Links exist to PubMed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","117","SNV","0.6021,0.3979,","True","C/A","rs5906843",null,10388,"1502","0.397881",3775,494,753,"208","0.396947",524,73,103,"111","0.110668",1003,62,44,"442","0.615599",718,108,249,"468","0.610966",766,130,239,"273","0.35733",764,121,118,"True","DUP_gs.X_CNV_X_49368756_49377573","Gain","<CN2>","DUP_gs",null,"12936","1","0.000264901","3775","1","0","0","0","524","0","0","0","0","1003","0","0","0","0","718","0","0","1","0.00130548","766","1","0","0","0","764","0","0"]
["X:73802983","G/A",null,"PASS","0.161111","151,29",180,99,"0/1","RLIM","3_prime_UTR_variant","Other","NM_016120.3","NM_016120.3:c.*8292C>T",null,"NM_016120.3,NM_183353.2","4,5",",","RLIM,RLIM","NM_016120.3,NM_183353.2","mRNA,mRNA","mRNA,mRNA","-,-","NP_057204.2,NP_899196.1","NP_057204.2,NP_899196.1","51132,51132","13429,13429","300379,300379","CCDS14427.1,CCDS14427.1","02304,02304","E3 ubiquitin-protein ligase RLIM,E3 ubiquitin-protein ligase RLIM",",","False",{"$nulls":41},"False"]
["X:82764523","C/T",null,"PASS","0.653846","18,34",52,99,"0/1","POU3F4","3_prime_UTR_variant","Other","NM_000307.4","NM_000307.4:c.*105C>T",null,"NM_000307.4","1",null,"POU3F4","NM_000307.4","mRNA","mRNA","+","NP_000298.3","NP_000298.3","5456","9217","300039","CCDS14450.1",null,"POU domain, class 3, transcription factor 4",null,"True","C/T","rs777244703","In 3' UTR,Is Assembly specific,Is Validated,1000 Genome phase 3","144","SNV","0.9995,0.0005298","False","C/T",null,null,12296,"2","0.000529801",3775,1,1,"1","0.0019084",524,1,0,"0","0",1003,0,0,"0","0",718,0,0,"1","0.00130548",766,0,1,"0","0",764,0,0,"False",{"$nulls":36},"C/T","368734","Likely Benign","Likely Benign","Likely benign (1)","(1 Stars) Criteria Provided, Single Submitter","rs777244703","POU3F4","5456","NC_000023.10:g.82764523C>T","NC_000023.11:g.83509515C>T","NM_000307.4:c.*105C>T",null,"RCV000339856","Nonsyndromic Hearing Loss, X-Linked","Likely Benign","(1 Stars) Criteria Provided, Single Submitter","2016-06-14"]
["X:103268241","G/A",null,"PASS","0.660819","58,113",171,99,"0/1","H2BFWT","5_prime_UTR_premature_start_codon_gain_variant","Missense","NM_001002916.4","NM_001002916.4:c.-9C>T","NP_001002916.3:p.Met1ext-3","NM_001002916.4","1",null,"H2BFWT","NM_001002916.4","mRNA","mRNA","-","NP_001002916.3","NP_001002916.3","158983","27252","300507","CCDS35362.1",null,"histone H2B type W-T",null,"True","G/A","rs7885967","Has SubmitterLinkOut,In 5' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","116","SNV","0.6914,0.3086","True","G/A","rs7885967","EX_TARGET",13348,"1165","0.308609",3775,470,533,"132","0.251908",524,66,56,"41","0.0408774",1003,24,16,"366","0.509749",718,115,188,"324","0.422976",766,135,143,"302","0.395288",764,130,130,"True","DUP_gs.X_CNV_X_103261177_103301346","Gain","<CN2>","DUP_gs",null,"15383","59","0.0156291","3775","34","23","9","0.0171756","524","3","5","2","0.00199402","1003","2","0","8","0.0111421","718","5","3","40","0.0522193","766","24","15","0","0","764","0","0"]
["X:118603844","T/G",null,"PASS","0.931818","9,123",132,8,"0/1","SLC25A5","missense_variant","Missense","NM_001152.4","NM_001152.4:c.332T>G","NP_001143.2:p.Leu111Arg","NM_001152.4","2","36.9008","SLC25A5","NM_001152.4","mRNA","mRNA","+","NP_001143.2","NP_001143.2","292","10991","300150","CCDS14578.1",null,"ADP/ATP translocase 2",null,"True","T/G","rs371749","RS orientation is reversed,Has 3D structure,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,In 5' gene region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","80","SNV","0.1883,0.8117","True","T/G","rs371749","EX_TARGET",10941,"3064","0.811656",3775,345,1865,"398","0.759542",524,67,229,"990","0.987039",1003,11,648,"581","0.809192",718,71,363,"572","0.746736",766,82,334,"523","0.684555",764,114,291,"False"]
["X:128938858","A/C",null,"SOR3","0.305556","25,11",36,99,"0/1","ZDHHC9","3_prime_UTR_variant","Other","NM_016032.3","NM_016032.3:c.*1488T>G",null,"NM_001008222.2,NM_016032.3","10,11",",","ZDHHC9,ZDHHC9","NM_001008222.2,NM_016032.3","mRNA,mRNA","mRNA,mRNA","-,-","NP_001008223.1,NP_057116.2","NP_001008223.1,NP_057116.2","51114,51114","18475,18475","300646,300646","CCDS35395.1,CCDS35395.1",",","palmitoyltransferase ZDHHC9,palmitoyltransferase ZDHHC9",",","False",{"$nulls":41},"False"]
["X:129337831","C/T",null,"PASS","0.666667","3,6",9,62,"0/1","ZNF280C","3_prime_UTR_variant","Other","NM_017666.4","NM_017666.4:c.*1120G>A",null,"NM_017666.4","19",null,"ZNF280C","NM_017666.4","mRNA","mRNA","-","NP_060136.1","NP_060136.1","55609","25955",null,"CCDS14622.1","06526","zinc finger protein 280C",null,"True","C/T","rs593323","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","83","SNV","0.4872,0.5128","True","C/T","rs593323",null,12059,"1936","0.512848",3775,590,992,"243","0.46374",524,78,122,"728","0.725823",1003,138,412,"380","0.529248",718,124,197,"309","0.403394",766,125,139,"276","0.361257",764,125,122,"False"]
["X:129338766","G/A",null,"PASS","0.67284","53,109",162,99,"0/1","ZNF280C","3_prime_UTR_variant","Other","NM_017666.4","NM_017666.4:c.*185C>T",null,"NM_017666.4","19",null,"ZNF280C","NM_017666.4","mRNA","mRNA","-","NP_060136.1","NP_060136.1","55609","25955",null,"CCDS14622.1","06526","zinc finger protein 280C",null,"True","G/A","rs608117","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","83","SNV","0.471,0.529","True","G/A","rs608117",null,11622,"1997","0.529007",3775,579,1038,"246","0.469466",524,79,124,"787","0.784646",1003,126,457,"380","0.529248",718,124,197,"308","0.402089",766,125,138,"276","0.361257",764,125,122,"False"]
["X:129536223","G/C",null,"FS60,QD2,SOR3","0.0555556","119,7",126,99,"0/1","RBMX2","splice_region_variant","Other","NM_016024.2","NM_016024.2:c.6-6G>C",null,"NM_016024.2","2",null,"RBMX2","NM_016024.2","mRNA","mRNA","+","NP_057108.2","NP_057108.2","51634","24282",null,"CCDS43993.1",null,"RNA-binding motif protein, X-linked 2",null,"False",{"$nulls":41},"False"]
["X:130223760","C/T",null,"PASS","0.220472","99,28",127,99,"0/1","ARHGAP36","3_prime_UTR_variant","Other","NM_144967.3","NM_144967.3:c.*1001C>T",null,"NM_144967.3,NM_001282607.1,NM_001330651.1","12,12,11",",,","ARHGAP36,ARHGAP36,ARHGAP36","NM_144967.3,NM_001282607.1,NM_001330651.1","mRNA,mRNA,mRNA","mRNA,mRNA,mRNA","+,+,+","NP_659404.2,NP_001269536.1,NP_001317580.1","NP_659404.2,NP_001269536.1,NP_001317580.1","158763,158763,158763","26388,26388,26388","300937,300937,300937","CCDS14628.1,CCDS65320.1,CCDS83489.1",",,","rho GTPase-activating protein 36 isoform 1 precursor,rho GTPase-activating protein 36 isoform 2,rho GTPase-activating protein 36 isoform 3",",,","True","C/T","rs3788","RS orientation is reversed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","36","SNV","0.845,0.155","True","C/T","rs3788",null,14033,"585","0.154967",3775,295,233,"95","0.181298",524,50,41,"315","0.314058",1003,143,129,"41","0.0571031",718,22,19,"134","0.174935",766,80,44,"0","0",764,0,0,"False"]
["X:131208595","T/A",null,"PASS","0.375","5,3",8,91,"0/1","STK26","3_prime_UTR_variant","Other","NM_016542.3","NM_016542.3:c.*408T>A",null,"NM_016542.3,NM_001042453.1,NM_001042452.1","12,11,10",",,","STK26,STK26,STK26","NM_016542.3,NM_001042453.1,NM_001042452.1","mRNA,mRNA,mRNA","mRNA,mRNA,mRNA","+,+,+","NP_057626.2,NP_001035918.1,NP_001035917.1","NP_057626.2,NP_001035918.1,NP_001035917.1","51765,51765,51765","18174,18174,18174","300547,300547,300547","CCDS14631.1,CCDS48168.1,CCDS43995.1",",,","serine/threonine-protein kinase 26 isoform 1,serine/threonine-protein kinase 26 isoform 2,serine/threonine-protein kinase 26 isoform 3",",,","True","T/A","rs5933061","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,1000 Genome phase 1,1000 Genome phase 3","114","SNV","0.9407,0.05934","True","T/A","rs5933061",null,11708,"224","0.0593378",3775,141,77,"14","0.0267176",524,11,3,"58","0.0578265",1003,36,20,"64","0.0891365",718,39,22,"85","0.110966",766,54,30,"3","0.0039267",764,1,2,"False"]
["X:131208596","T/A",null,"PASS","0.428571","4,3",7,91,"0/1","STK26","3_prime_UTR_variant","Other","NM_016542.3","NM_016542.3:c.*409T>A",null,"NM_016542.3,NM_001042453.1,NM_001042452.1","12,11,10",",,","STK26,STK26,STK26","NM_016542.3,NM_001042453.1,NM_001042452.1","mRNA,mRNA,mRNA","mRNA,mRNA,mRNA","+,+,+","NP_057626.2,NP_001035918.1,NP_001035917.1","NP_057626.2,NP_001035918.1,NP_001035917.1","51765,51765,51765","18174,18174,18174","300547,300547,300547","CCDS14631.1,CCDS48168.1,CCDS43995.1",",,","serine/threonine-protein kinase 26 isoform 1,serine/threonine-protein kinase 26 isoform 2,serine/threonine-protein kinase 26 isoform 3",",,","True","T/A","rs995246","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","92","SNV","0.2387,0.7613","True","T/A","rs995246",null,11751,"2874","0.761325",3775,532,1664,"439","0.837786",524,68,263,"623","0.621137",1003,180,320,"604","0.841226",718,77,380,"589","0.768929",766,112,336,"619","0.810209",764,95,365,"False"]
["X:131351542","G/A",null,"PASS","0.8","10,40",50,99,"0/1","RAP2C","5_prime_UTR_variant","Other","NM_021183.4","NM_021183.4:c.-246C>T",null,"NM_021183.4,NM_001271186.1,NM_001271187.1","2,4,3",",,","RAP2C,RAP2C,RAP2C","NM_021183.4,NM_001271186.1,NM_001271187.1","mRNA,mRNA,mRNA","mRNA,mRNA,mRNA","-,-,-","NP_067006.3,NP_001258115.1,NP_001258116.1","NP_067006.3,NP_001258115.1,NP_001258116.1","57826,57826,57826","21165,21165,21165",",,","CCDS14632.1,CCDS14632.1,CCDS76024.1",",,","ras-related protein Rap-2c isoform 1 precursor,ras-related protein Rap-2c isoform 1 precursor,ras-related protein Rap-2c isoform 2",",,","True","G/A","rs112111321","Has SubmitterLinkOut,In 5' UTR,In Intron,In 5' gene region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","132","SNV","0.9521,0.04795","True","G/A","rs112111321",null,8605,"181","0.047947",3775,98,73,"26","0.0496183",524,18,8,"8","0.00797607",1003,8,0,"37","0.051532",718,15,19,"109","0.142298",766,57,45,"1","0.0013089",764,0,1,"True","DUP_gs.X_CNV_X_131303138_131444024","Gain","<CN2>","DUP_gs",null,"13245","1","0.000264901","3775","1","0","0","0","524","0","0","0","0","1003","0","0","0","0","718","0","0","1","0.00130548","766","1","0","0","0","764","0","0"]
["X:131761608","A/G",null,"PASS","0.71223","40,99",139,99,"0/1","HS6ST2","3_prime_UTR_variant","Other","NM_001077188.1","NM_001077188.1:c.*643T>C",null,"NM_147175.3,NM_001077188.1","4,6",",","HS6ST2,HS6ST2","NM_147175.3,NM_001077188.1","mRNA,mRNA","mRNA,mRNA","-,-","NP_671704.3,NP_001070656.1","NP_671704.3,NP_001070656.1","90161,90161","19133,19133","300545,300545","CCDS48169.1,CCDS48170.1",",","heparan-sulfate 6-O-sulfotransferase 2 isoform S,heparan-sulfate 6-O-sulfotransferase 2 isoform L",",","True","A/G","rs243464","RS orientation is reversed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","79","SNV","0.867,0.133","True","A/G","rs243464",null,12054,"502","0.13298",3775,288,190,"60","0.114504",524,40,20,"163","0.162512",1003,89,63,"84","0.116992",718,43,35,"106","0.138381",766,64,36,"89","0.116492",764,52,36,"False"]
["X:131761869","A/G",null,"PASS","0.789474","4,15",19,97,"0/1","HS6ST2","3_prime_UTR_variant","Other","NM_001077188.1","NM_001077188.1:c.*382T>C",null,"NM_147175.3,NM_001077188.1","4,6",",","HS6ST2,HS6ST2","NM_147175.3,NM_001077188.1","mRNA,mRNA","mRNA,mRNA","-,-","NP_671704.3,NP_001070656.1","NP_671704.3,NP_001070656.1","90161,90161","19133,19133","300545,300545","CCDS48169.1,CCDS48170.1",",","heparan-sulfate 6-O-sulfotransferase 2 isoform S,heparan-sulfate 6-O-sulfotransferase 2 isoform L",",","True","A/G","rs5933172","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","114","SNV","0.9579,0.04212","True","A/G","rs5933172",null,12937,"159","0.0421192",3775,94,57,"25","0.0477099",524,18,7,"4","0.00398804",1003,4,0,"33","0.045961",718,15,16,"96","0.125326",766,57,33,"1","0.0013089",764,0,1,"False"]
["X:134022913","A/C",null,"PASS","0.678571","90,190",280,99,"0/1","MOSPD1","3_prime_UTR_variant","Other","NM_019556.2","NM_019556.2:c.*278T>G",null,"NM_019556.2,NM_001306188.1","6,5",",","MOSPD1,MOSPD1","NM_019556.2,NM_001306188.1","mRNA,mRNA","mRNA,mRNA","-,-","NP_062456.1,NP_001293117.1","NP_062456.1,NP_001293117.1","56180,56180","25235,25235","300674,300674","CCDS14645.1,CCDS78507.1",",","motile sperm domain-containing protein 1 isoform 1,motile sperm domain-containing protein 1 isoform 2",",","True","A/C","rs6529647","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","116","SNV","0.64,0.36","True","A/C","rs6529647",null,10244,"1359","0.36",3775,561,623,"185","0.353053",524,80,83,"253","0.252243",1003,122,113,"225","0.31337",718,94,101,"331","0.432115",766,131,150,"365","0.477749",764,134,176,"False"]
["X:134022943","A/G",null,"PASS","0.654135","92,174",266,99,"0/1","MOSPD1","3_prime_UTR_variant","Other","NM_019556.2","NM_019556.2:c.*248T>C",null,"NM_019556.2,NM_001306188.1","6,5",",","MOSPD1,MOSPD1","NM_019556.2,NM_001306188.1","mRNA,mRNA","mRNA,mRNA","-,-","NP_062456.1,NP_001293117.1","NP_062456.1,NP_001293117.1","56180,56180","25235,25235","300674,300674","CCDS14645.1,CCDS78507.1",",","motile sperm domain-containing protein 1 isoform 1,motile sperm domain-containing protein 1 isoform 2",",","True","A/G","rs7062231","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","116","SNV","0.8029,0.1971","True","A/G","rs7062231",null,10410,"744","0.197086",3775,344,322,"91","0.173664",524,50,34,"239","0.238285",1003,117,106,"91","0.126741",718,52,34,"322","0.420366",766,124,148,"1","0.0013089",764,1,0,"False"]
["X:134126394","G/A",null,"PASS","0.692308","80,180",260,99,"0/1","SMIM10","3_prime_UTR_variant","Other","NM_001163438.1","NM_001163438.1:c.*1017G>A",null,"NM_001163438.1","1",null,"SMIM10","NM_001163438.1","mRNA","mRNA","+","NP_001156910.1","NP_001156910.1","644538","41913",null,"CCDS55502.1",null,"small integral membrane protein 10",null,"True","G/A","rs2498769","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","100","SNV","0.6821,0.3179","True","G/A","rs2498769",null,13321,"1200","0.317881",3775,515,541,"122","0.232824",524,58,53,"231","0.230309",1003,121,89,"346","0.481894",718,119,177,"229","0.298956",766,100,101,"272","0.356021",764,117,121,"False"]
["X:134156121","G/C",null,"PASS","0.671329","47,96",143,99,"0/1","FAM127C","3_prime_UTR_variant","Other","NM_001078173.1","NM_001078173.1:c.*27C>G",null,"NM_001078173.1","1",null,"FAM127C","NM_001078173.1","mRNA","mRNA","-","NP_001071641.1","NP_001071641.1","441518","33156",null,"CCDS43996.1",null,"protein FAM127C",null,"True","G/A/C","rs2475853","Has SubmitterLinkOut,In 3' UTR,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","100","SNV","0.3287,,0.6713","True","G/C","rs2475853","EX_TARGET",9953,"2534","0.671258",3775,534,1419,"320","0.610687",524,80,179,"749","0.74676",1003,118,432,"431","0.600279",718,109,239,"580","0.75718",766,94,334,"454","0.594241",764,133,235,"False"]
["X:134185997","T/A",null,"PASS","0.657609","63,121",184,99,"0/1","FAM127B","missense_variant","Missense","NM_001078172.1","NM_001078172.1:c.142A>T","NP_001071640.1:p.Ser48Cys","NM_001078172.1,NM_001134321.1","1,1","41.2281,55.9524","FAM127B,FAM127B","NM_001078172.1,NM_001134321.1","mRNA,mRNA","mRNA,mRNA","-,-","NP_001071640.1,NP_001127793.1","NP_001071640.1,NP_001127793.1","26071,26071","24514,24514",",","CCDS43998.1,",",","protein FAM127B isoform 1,protein FAM127B isoform 2",",","True","T/A/C","rs2498776","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1","100","SNV","0.2789,0.7208,0.0002649","True","T/A","rs2498776","EX_TARGET",11600,"2722","0.72106",3775,457,1581,"331","0.631679",524,76,188,"922","0.919242",1003,43,583,"433","0.603064",718,110,240,"580","0.75718",766,94,334,"456","0.596859",764,134,236,"False"]
["X:134654818","T/C",null,"PASS","0.628571","26,44",70,99,"0/1","INTS6L","5_prime_UTR_variant","Other","NM_182540.4","NM_182540.4:c.-100T>C",null,"NM_182540.4","1",null,"INTS6L","NM_182540.4","mRNA","mRNA","+","NP_872346.3","NP_872346.3","203522","27334",null,"CCDS35401.1",null,"integrator complex subunit 6-like",null,"True","T/C","rs1890584","RS orientation is reversed,Has SubmitterLinkOut,In 5' UTR,In 5' gene region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","92","SNV","0.04079,0.9592","True","T/C","rs1890584",null,11289,"3621","0.959205",3775,107,2352,"493","0.94084",524,20,317,"944","0.941176",1003,44,602,"713","0.993036",718,2,484,"743","0.969974",766,18,480,"728","0.95288",764,23,469,"True","DUP_gs.X_CNV_X_134652695_134790974","Gain","<CN2>","DUP_gs",null,"12690","5","0.0013245","3775","4","1","0","0","524","0","0","1","0.000997009","1003","1","0","2","0.00278552","718","2","0","1","0.00130548","766","0","1","1","0.0013089","764","1","0"]
["X:134967333","G/T",null,"MQ40","0.3","21,9",30,99,"0/1","CT45A10","missense_variant","Missense","NM_001291527.1","NM_001291527.1:c.164C>A","NP_001278456.1:p.Ala55Glu","NM_001291528.1,NM_001291527.1,NM_001291530.1,NM_001291529.1","2,2,2,2","28.5965,28.5965,28.5965,28.5965","CT45A10,CT45A10,CT45A10,CT45A10","NM_001291528.1,NM_001291527.1,NM_001291530.1,NM_001291529.1","mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA","-,-,-,-","NP_001278457.1,NP_001278456.1,NP_001278459.1,NP_001278458.1","NP_001278457.1,NP_001278456.1,NP_001278459.1,NP_001278458.1","102723631,102723631,102723631,102723631","51263,51263,51263,51263",",,,","CCDS76035.1,CCDS76035.1,CCDS76035.1,CCDS76035.1",",,,","cancer/testis antigen family 45 member A10,cancer/testis antigen family 45 member A10,cancer/testis antigen family 45 member A10,cancer/testis antigen family 45 member A10",",,,","True","G/T","rs201015247","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific","137","SNV",{"$nulls":36},"False"]
["X:135129075","C/T",null,"PASS","0.688","39,86",125,99,"0/1","SLC9A6","3_prime_UTR_variant","Other","NM_006359.2","NM_006359.2:c.*2192C>T",null,"NM_001177651.1,NM_001330652.1,NM_001042537.1,NM_006359.2","17,17,16,16",",,,","SLC9A6,SLC9A6,SLC9A6,SLC9A6","NM_001177651.1,NM_001330652.1,NM_001042537.1,NM_006359.2","mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA","+,+,+,+","NP_001171122.1,NP_001317581.1,NP_001036002.1,NP_006350.1","NP_001171122.1,NP_001317581.1,NP_001036002.1,NP_006350.1","10479,10479,10479,10479","11079,11079,11079,11079","300231,300231,300231,300231","CCDS55504.1,CCDS83492.1,CCDS44003.1,CCDS14654.1",",,,","sodium/hydrogen exchanger 6 isoform c,sodium/hydrogen exchanger 6 isoform d,sodium/hydrogen exchanger 6 isoform a precursor,sodium/hydrogen exchanger 6 isoform b precursor",",,,","True","C/T","rs148651157","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,Marker on high density genotype kit (50K+),1000 Genome phase 1,1000 Genome phase 3","134","SNV","0.983,0.01695","True","C/T","rs148651157",null,15490,"64","0.0169536",3775,39,23,"6","0.0114504",524,5,1,"1","0.000997009",1003,1,0,"28","0.0389972",718,16,10,"28","0.0365535",766,16,12,"1","0.0013089",764,1,0,"False"]
["X:135429722","C/T",null,"PASS","0.331606","129,64",193,99,"0/1","ADGRG4","missense_variant","Missense","NM_153834.3","NM_153834.3:c.3857C>T","NP_722576.3:p.Ser1286Leu","NM_153834.3","6","41.7181","ADGRG4","NM_153834.3","mRNA","mRNA","+","NP_722576.3","NP_722576.3","139378","18992",null,"CCDS35409.1",null,"adhesion G-protein coupled receptor G4",null,"False",{"$nulls":41},"False"]
["X:135496326","C/A",null,"PASS","0.303571","117,51",168,99,"0/1","ADGRG4","missense_variant","Missense","NM_153834.3","NM_153834.3:c.9045C>A","NP_722576.3:p.Ser3015Arg","NM_153834.3","25","97.847","ADGRG4","NM_153834.3","mRNA","mRNA","+","NP_722576.3","NP_722576.3","139378","18992",null,"CCDS35409.1",null,"adhesion G-protein coupled receptor G4",null,"True","C/A","rs140250794","Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,Marker on high density genotype kit (50K+),1000 Genome phase 1,1000 Genome phase 3","134","SNV","0.9984,0.001589","False","C/A","rs140250794","EX_TARGET",13089,"6","0.0015894",3775,3,2,"0","0",524,0,0,"0","0",1003,0,0,"0","0",718,0,0,"6","0.0078329",766,3,2,"0","0",764,0,0,"False"]
["X:135827479","C/T",null,"PASS","0.662983","61,120",181,99,"0/1","ARHGEF6","missense_variant","Missense","NM_004840.2","NM_004840.2:c.362G>A","NP_004831.1:p.Arg121His","NM_001306177.1,NM_004840.2","3,4",",15.4869","ARHGEF6,ARHGEF6","NM_001306177.1,NM_004840.2","mRNA,mRNA","mRNA,mRNA","-,-","NP_001293106.1,NP_004831.1","NP_001293106.1,NP_004831.1","9459,9459","685,685","300267,300267","CCDS78509.1,CCDS14660.1","02226,02226","rho guanine nucleotide exchange factor 6 isoform 2,rho guanine nucleotide exchange factor 6 isoform 1",",","True","C/T","rs35106300","RS orientation is reversed,Variant is Precious,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,In 5' UTR,Is Assembly specific,Is Validated,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3,Submitted from a locus-specific database","126","SNV","0.9984,0.001589","True","C/T","rs35106300","EX_TARGET",15402,"6","0.0015894",3775,3,3,"2","0.00381679",524,2,0,"0","0",1003,0,0,"3","0.00417827",718,1,2,"1","0.00130548",766,0,1,"0","0",764,0,0,"False",{"$nulls":36},"C/T","128447","Likely Benign","Benign/Likely Benign","Benign (3),Likely benign (2)","(2 Stars) Criteria Provided, Multiple Submitters, No Conflicts","rs35106300","ARHGEF6","9459","NC_000023.10:g.135827479C>T","NC_000023.11:g.136745320C>T","NM_004840.2:c.362G>A","NP_004831.1:p.Arg121His","RCV000116412,RCV000293026,RCV000609668,RCV000721051","not specified,Non-syndromic X-linked intellectual disability,Mental retardation 46, X-linked,History of neurodevelopmental disorder","Benign,Likely Benign,Likely Benign,Benign","(2 Stars) Criteria Provided, Multiple Submitters, No Conflicts,(1 Stars) Criteria Provided, Single Submitter,(0 Stars) No Assertion Criteria Provided,(1 Stars) Criteria Provided, Single Submitter","2014-02-06,2016-06-14,,2015-12-29"]
["X:135955996","G/A",null,"FS60,QD2,SOR3","0.0983607","110,12",122,47,"0/1","RBMX","3_prime_UTR_variant","Other","NM_002139.3","NM_002139.3:c.*305C>T",null,"NM_001164803.1,NM_002139.3","6,9",",","RBMX,RBMX","NM_001164803.1,NM_002139.3","mRNA,mRNA","mRNA,mRNA","-,-","NP_001158275.1,NP_002130.2","NP_001158275.1,NP_002130.2","27316,27316","9910,9910","300199,300199","CCDS55510.1,CCDS14661.1",",","RNA-binding motif protein, X chromosome isoform 2,RNA-binding motif protein, X chromosome isoform 1",",","True","G/A","rs850","RS orientation is reversed,In 3' UTR,In Intron,In 5' gene region,Is Assembly specific,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available","36","SNV",{"$nulls":36},"False"]
["X:135956107","G/A",null,"PASS","0.297521","85,36",121,99,"0/1","RBMX","3_prime_UTR_variant","Other","NM_002139.3","NM_002139.3:c.*194C>T",null,"NM_001164803.1,NM_002139.3","6,9",",","RBMX,RBMX","NM_001164803.1,NM_002139.3","mRNA,mRNA","mRNA,mRNA","-,-","NP_001158275.1,NP_002130.2","NP_001158275.1,NP_002130.2","27316,27316","9910,9910","300199,300199","CCDS55510.1,CCDS14661.1",",","RNA-binding motif protein, X chromosome isoform 2,RNA-binding motif protein, X chromosome isoform 1",",","True","G/A","rs4020659","In 3' UTR,In Intron,In 5' gene region,Is Assembly specific,Genotypes available","108","SNV",{"$nulls":36},"False"]
["X:135956218","G/A",null,"PASS","0.373272","136,81",217,99,"0/1","RBMX","3_prime_UTR_variant","Other","NM_002139.3","NM_002139.3:c.*83C>T",null,"NM_001164803.1,NM_002139.3","6,9",",","RBMX,RBMX","NM_001164803.1,NM_002139.3","mRNA,mRNA","mRNA,mRNA","-,-","NP_001158275.1,NP_002130.2","NP_001158275.1,NP_002130.2","27316,27316","9910,9910","300199,300199","CCDS55510.1,CCDS14661.1",",","RNA-binding motif protein, X chromosome isoform 2,RNA-binding motif protein, X chromosome isoform 1",",","True","G/A","rs75376102","Has SubmitterLinkOut,In 3' UTR,In Intron,In 5' gene region,Is Assembly specific,Is Validated,Genotypes available","131","SNV",{"$nulls":36},"False"]
["X:135956342","C/G",null,"MQRankSum-12.5","0.322807","193,92",285,99,"0/1","RBMX","missense_variant","Missense","NM_002139.3","NM_002139.3:c.1135G>C","NP_002130.2:p.Gly379Arg","NM_001164803.1,NM_002139.3","6,9",",96.4286","RBMX,RBMX","NM_001164803.1,NM_002139.3","mRNA,mRNA","mRNA,mRNA","-,-","NP_001158275.1,NP_002130.2","NP_001158275.1,NP_002130.2","27316,27316","9910,9910","300199,300199","CCDS55510.1,CCDS14661.1",",","RNA-binding motif protein, X chromosome isoform 2,RNA-binding motif protein, X chromosome isoform 1",",","True","C/G","rs72615484","Has non-synonymous missense A coding region,Has reference A coding region,In Intron,In 5' gene region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available","130","SNV",{"$nulls":36},"False"]
["X:135956408","A/G",null,"MQRankSum-12.5","0.317857","191,89",280,99,"0/1","RBMX","missense_variant","Missense","NM_002139.3","NM_002139.3:c.1069T>C","NP_002130.2:p.Tyr357His","NM_001164803.1,NM_002139.3","6,9",",90.8163","RBMX,RBMX","NM_001164803.1,NM_002139.3","mRNA,mRNA","mRNA,mRNA","-,-","NP_001158275.1,NP_002130.2","NP_001158275.1,NP_002130.2","27316,27316","9910,9910","300199,300199","CCDS55510.1,CCDS14661.1",",","RNA-binding motif protein, X chromosome isoform 2,RNA-binding motif protein, X chromosome isoform 1",",","True","A/G","rs76876438","Has non-synonymous missense A coding region,Has reference A coding region,In Intron,In 5' gene region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available","131","SNV",{"$nulls":36},"False"]
["X:135956462","G/C",null,"MQRankSum-12.5","0.312268","185,84",269,99,"0/1","RBMX","missense_variant","Missense","NM_002139.3","NM_002139.3:c.1015C>G","NP_002130.2:p.Arg339Gly","NM_001164803.1,NM_002139.3","6,9",",86.2245","RBMX,RBMX","NM_001164803.1,NM_002139.3","mRNA,mRNA","mRNA,mRNA","-,-","NP_001158275.1,NP_002130.2","NP_001158275.1,NP_002130.2","27316,27316","9910,9910","300199,300199","CCDS55510.1,CCDS14661.1",",","RNA-binding motif protein, X chromosome isoform 2,RNA-binding motif protein, X chromosome isoform 1",",","True","G/A/C","rs74463481","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,In Intron,In 5' gene region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Genotypes available","131","SNV",{"$nulls":36},"False"]
["X:135956467","C/T",null,"MQRankSum-12.5","0.312268","185,84",269,99,"0/1","RBMX","missense_variant","Missense","NM_002139.3","NM_002139.3:c.1010G>A","NP_002130.2:p.Ser337Asn","NM_001164803.1,NM_002139.3","6,9",",85.7993","RBMX,RBMX","NM_001164803.1,NM_002139.3","mRNA,mRNA","mRNA,mRNA","-,-","NP_001158275.1,NP_002130.2","NP_001158275.1,NP_002130.2","27316,27316","9910,9910","300199,300199","CCDS55510.1,CCDS14661.1",",","RNA-binding motif protein, X chromosome isoform 2,RNA-binding motif protein, X chromosome isoform 1",",","True","C/T","rs35899675","RS orientation is reversed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,In Intron,In 5' gene region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available","126","SNV",{"$nulls":36},"False"]
["X:135956506","C/G",null,"FS60,MQRankSum-12.5,SOR3","0.236515","184,57",241,99,"0/1","RBMX","missense_variant","Missense","NM_002139.3","NM_002139.3:c.971G>C","NP_002130.2:p.Arg324Pro","NM_001164803.1,NM_002139.3","6,9",",82.483","RBMX,RBMX","NM_001164803.1,NM_002139.3","mRNA,mRNA","mRNA,mRNA","-,-","NP_001158275.1,NP_002130.2","NP_001158275.1,NP_002130.2","27316,27316","9910,9910","300199,300199","CCDS55510.1,CCDS14661.1",",","RNA-binding motif protein, X chromosome isoform 2,RNA-binding motif protein, X chromosome isoform 1",",","True","C/G","rs77794331","Has non-synonymous missense A coding region,Has reference A coding region,In Intron,In 5' gene region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available","131","SNV",{"$nulls":36},"False"]
["X:135956575","G/A",null,"MQRankSum-12.5,SOR3","0.102326","193,22",215,99,"0/1","RBMX","missense_variant","Missense","NM_002139.3","NM_002139.3:c.902C>T","NP_002130.2:p.Pro301Leu","NM_001164803.1,NM_002139.3","6,9",",76.6156","RBMX,RBMX","NM_001164803.1,NM_002139.3","mRNA,mRNA","mRNA,mRNA","-,-","NP_001158275.1,NP_002130.2","NP_001158275.1,NP_002130.2","27316,27316","9910,9910","300199,300199","CCDS55510.1,CCDS14661.1",",","RNA-binding motif protein, X chromosome isoform 2,RNA-binding motif protein, X chromosome isoform 1",",","True","G/A/C","rs78646793","Has non-synonymous missense A coding region,Has reference A coding region,In Intron,In 5' gene region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Genotypes available","131","SNV",{"$nulls":36},"False"]
["X:136112707","A/G",null,"PASS","0.358696","59,33",92,99,"0/1","GPR101","missense_variant","Missense","NM_054021.1","NM_054021.1:c.1127T>C","NP_473362.1:p.Leu376Pro","NM_054021.1","1","73.7394","GPR101","NM_054021.1","mRNA","mRNA","-","NP_473362.1","NP_473362.1","83550","14963","300393","CCDS14662.1","02315","probable G-protein coupled receptor 101",null,"True","A/G","rs5931046","Variant is Precious,Links exist to PubMed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","114","SNV","0.7857,0.2143","True","A/G","rs5931046","EX_TARGET",16325,"809","0.214305",3775,391,349,"61","0.116412",524,35,24,"258","0.257228",1003,133,102,"256","0.356546",718,102,124,"131","0.171018",766,63,59,"103","0.134817",764,58,40,"False"]
["X:136113464","C/A",null,"PASS","0.741071","29,83",112,99,"0/1","GPR101","missense_variant","Missense","NM_054021.1","NM_054021.1:c.370G>T","NP_473362.1:p.Val124Leu","NM_054021.1","1","24.165","GPR101","NM_054021.1","mRNA","mRNA","-","NP_473362.1","NP_473362.1","83550","14963","300393","CCDS14662.1","02315","probable G-protein coupled receptor 101",null,"True","C/A","rs1190736","Has 3D structure,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","87","SNV","0.7679,0.2321","True","C/A","rs1190736","EX_TARGET",16163,"876","0.232053",3775,352,402,"102","0.194656",524,57,39,"15","0.0149551",1003,9,6,"125","0.174095",718,57,59,"370","0.483029",766,113,182,"264","0.34555",764,116,116,"False"]
["X:136648627","G/C",null,"QD2,SOR3","0.142857","24,4",28,2,"0/1","ZIC3","5_prime_UTR_variant","Other","NM_003413.3","NM_003413.3:c.-224G>C",null,"NM_001330661.1,NM_003413.3","1,1",",","ZIC3,ZIC3","NM_001330661.1,NM_003413.3","mRNA,mRNA","mRNA,mRNA","+,+","NP_001317590.1,NP_003404.1","NP_001317590.1,NP_003404.1","7547,7547","12874,12874","300265,300265","CCDS83494.1,CCDS14663.1",",","zinc finger protein ZIC 3 isoform 2,zinc finger protein ZIC 3 isoform 1",",","True","G/C","rs868731956","Has SubmitterLinkOut,In 5' UTR,Is Assembly specific","147","SNV",{"$nulls":36},"False"]
["X:138692474","G/A",null,"PASS","0.205128","62,16",78,99,"0/1","MCF2","stop_gained","LoF","NM_001171876.1","NM_001171876.1:c.1615C>T","NP_001165347.1:p.Gln539Ter","NM_001171877.1,NM_001171879.1,NM_005369.4,NM_001171878.1,NM_001171876.1,NM_001099855.1","10,12,11,11,15,14","51.4599,50.7431,49.892,53.6585,53.6926,52.9412","MCF2,MCF2,MCF2,MCF2,MCF2,MCF2","NM_001171877.1,NM_001171879.1,NM_005369.4,NM_001171878.1,NM_001171876.1,NM_001099855.1","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","-,-,-,-,-,-","NP_001165348.1,NP_001165350.1,NP_005360.3,NP_001165349.1,NP_001165347.1,NP_001093325.1","NP_001165348.1,NP_001165350.1,NP_005360.3,NP_001165349.1,NP_001165347.1,NP_001093325.1","4168,4168,4168,4168,4168,4168","6940,6940,6940,6940,6940,6940","311030,311030,311030,311030,311030,311030","CCDS55514.1,CCDS55516.1,CCDS14667.1,CCDS55515.1,CCDS55517.1,CCDS48175.1",",,,,,","proto-oncogene DBL isoform d,proto-oncogene DBL isoform f,proto-oncogene DBL isoform b,proto-oncogene DBL isoform e,proto-oncogene DBL isoform c,proto-oncogene DBL isoform a",",,,,,","False",{"$nulls":41},"False"]
["X:138809002","T/C",null,"PASS","0.794872","8,31",39,99,"0/1","ATP11C","3_prime_UTR_variant","Other","NM_173694.4","NM_173694.4:c.*2123A>G",null,"NM_173694.4,NM_001010986.2","30,29",",","ATP11C,ATP11C","NM_173694.4,NM_001010986.2","mRNA,mRNA","mRNA,mRNA","-,-","NP_775965.2,NP_001010986.1","NP_775965.2,NP_001010986.1","286410,286410","13554,13554","300516,300516","CCDS14668.1,CCDS35410.1","09814,09814","phospholipid-transporting ATPase IG isoform a,phospholipid-transporting ATPase IG isoform b",",","True","T/C","rs2805901","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","100","SNV","0.2506,0.7494","True","T/C","rs2805901",null,14171,"2829","0.749404",3775,360,1697,"394","0.751908",524,57,230,"435","0.433699",1003,173,200,"697","0.970752",718,12,468,"752","0.981723",766,11,489,"551","0.721204",764,107,310,"True","DUP_gs.X_CNV_X_138792013_138951270","Gain","<CN2>","DUP_gs",null,"9114","1","0.000264901","3775","1","0","0","0","524","0","0","0","0","1003","0","0","0","0","718","0","0","0","0","766","0","0","1","0.0013089","764","1","0"]
["X:138810495","G/A",null,"PASS","0.304348","48,21",69,99,"0/1","ATP11C","3_prime_UTR_variant","Other","NM_173694.4","NM_173694.4:c.*630C>T",null,"NM_173694.4,NM_001010986.2","30,29",",","ATP11C,ATP11C","NM_173694.4,NM_001010986.2","mRNA,mRNA","mRNA,mRNA","-,-","NP_775965.2,NP_001010986.1","NP_775965.2,NP_001010986.1","286410,286410","13554,13554","300516,300516","CCDS14668.1,CCDS35410.1","09814,09814","phospholipid-transporting ATPase IG isoform a,phospholipid-transporting ATPase IG isoform b",",","True","G/A","rs56885123","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),1000 Genome phase 1,1000 Genome phase 3","129","SNV","0.897,0.103","True","G/A","rs56885123",null,12342,"389","0.103046",3775,203,159,"102","0.194656",524,49,45,"43","0.0428714",1003,27,16,"19","0.0264624",718,11,8,"12","0.0156658",766,9,3,"213","0.278796",764,107,87,"True","DUP_gs.X_CNV_X_138792013_138951270","Gain","<CN2>","DUP_gs",null,"9114","1","0.000264901","3775","1","0","0","0","524","0","0","0","0","1003","0","0","0","0","718","0","0","0","0","766","0","0","1","0.0013089","764","1","0"]
["X:138869368","T/C",null,"PASS","0.365854","52,30",82,99,"0/1","ATP11C","missense_variant","Missense","NM_173694.4","NM_173694.4:c.1565A>G","NP_775965.2:p.Tyr522Cys","NM_173694.4,NM_001010986.2","15,15","46.0135,46.5476","ATP11C,ATP11C","NM_173694.4,NM_001010986.2","mRNA,mRNA","mRNA,mRNA","-,-","NP_775965.2,NP_001010986.1","NP_775965.2,NP_001010986.1","286410,286410","13554,13554","300516,300516","CCDS14668.1,CCDS35410.1","09814,09814","phospholipid-transporting ATPase IG isoform a,phospholipid-transporting ATPase IG isoform b",",","True","T/C","rs17281983","Has 3D structure,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","123","SNV","0.969,0.03099","True","T/C","rs17281983","EX_TARGET",12562,"117","0.0309934",3775,68,44,"34","0.0648855",524,15,17,"1","0.000997009",1003,1,0,"3","0.00417827",718,3,0,"5","0.00652742",766,3,2,"74","0.0968586",764,46,25,"True","DUP_gs.X_CNV_X_138792013_138951270","Gain","<CN2>","DUP_gs",null,"9114","1","0.000264901","3775","1","0","0","0","524","0","0","0","0","1003","0","0","0","0","718","0","0","0","0","766","0","0","1","0.0013089","764","1","0"]
["X:140714231","A/G",null,"PASS","0.662069","49,96",145,99,"0/1","LOC645188","missense_variant","Missense","NM_001318917.1","NM_001318917.1:c.160A>G","NP_001305846.1:p.Ile54Val","NM_001318917.1","1","34.8684","LOC645188","NM_001318917.1","mRNA","mRNA","+","NP_001305846.1","NP_001305846.1","645188",{"$nulls":4},"uncharacterized protein LOC645188",null,"True","A/G","rs2239834","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","98","SNV","0.6763,0.3237","True","A/G","rs2239834",null,15115,"1222","0.323709",3775,537,541,"109","0.208015",524,55,45,"347","0.345962",1003,159,151,"279","0.388579",718,119,127,"166","0.21671",766,87,62,"321","0.420157",764,117,156,"True","DUP_gs.X_CNV_X_140667978_140774647,DUP_gs.X_CNV_X_140667978_140774647,UW_VH_14239","Loss,Gain,Loss","<CN0>,<CN2>,<CN0>","DUP_gs,DUP_gs,DEL_union",null,"20758,20758,14279","8,6,20","0.00211808,0.00158898,0.00529801","3777,3776,3775","7,4,16","1,2,4","1,0,2","0.0019084,0,0.00381679","524,524,524","1,0,2","0,0,0","4,1,7","0.00398406,0.000996016,0.00697906","1004,1004,1003","3,0,6","1,1,1","1,4,1","0.00139276,0.00557103,0.00139276","718,718,718","1,4,1","0,0,0","0,0,7","0,0,0.00913838","766,766,766","0,0,5","0,0,2","2,1,3","0.00261438,0.0013089,0.0039267","765,764,764","2,0,2","0,1,1"]
["X:140714769","A/G",null,"PASS","0.619469","43,70",113,99,"0/1","LOC645188","3_prime_UTR_variant","Other","NM_001318917.1","NM_001318917.1:c.*53A>G",null,"NM_001318917.1","2",null,"LOC645188","NM_001318917.1","mRNA","mRNA","+","NP_001305846.1","NP_001305846.1","645188",{"$nulls":4},"uncharacterized protein LOC645188",null,"True","A/G","rs2239837","Has SubmitterLinkOut,In 3' UTR,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1","98","SNV","0.6766,0.3229","True","A/G","rs2239837","MULTI_ALLELIC",13679,"1219","0.322914",3775,537,539,"107","0.204198",524,54,44,"347","0.345962",1003,159,151,"279","0.388579",718,121,126,"165","0.215405",766,86,62,"321","0.420157",764,117,156,"True","DUP_gs.X_CNV_X_140667978_140774647,DUP_gs.X_CNV_X_140667978_140774647,UW_VH_14239","Loss,Gain,Loss","<CN0>,<CN2>,<CN0>","DUP_gs,DUP_gs,DEL_union",null,"20758,20758,14279","8,6,20","0.00211808,0.00158898,0.00529801","3777,3776,3775","7,4,16","1,2,4","1,0,2","0.0019084,0,0.00381679","524,524,524","1,0,2","0,0,0","4,1,7","0.00398406,0.000996016,0.00697906","1004,1004,1003","3,0,6","1,1,1","1,4,1","0.00139276,0.00557103,0.00139276","718,718,718","1,4,1","0,0,0","0,0,7","0,0,0.00913838","766,766,766","0,0,5","0,0,2","2,1,3","0.00261438,0.0013089,0.0039267","765,764,764","2,0,2","0,1,1"]
["X:140714777","G/C",null,"PASS","0.598131","43,64",107,99,"0/1","LOC645188","3_prime_UTR_variant","Other","NM_001318917.1","NM_001318917.1:c.*61G>C",null,"NM_001318917.1","2",null,"LOC645188","NM_001318917.1","mRNA","mRNA","+","NP_001305846.1","NP_001305846.1","645188",{"$nulls":4},"uncharacterized protein LOC645188",null,"True","G/C","rs2239838","Has SubmitterLinkOut,In 3' UTR,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","98","SNV","0.6842,0.3158","True","G/C","rs2239838",null,13710,"1192","0.315762",3775,527,526,"104","0.198473",524,52,43,"346","0.344965",1003,158,151,"270","0.376045",718,117,123,"151","0.197128",766,83,53,"321","0.420157",764,117,156,"True","DUP_gs.X_CNV_X_140667978_140774647,DUP_gs.X_CNV_X_140667978_140774647,UW_VH_14239","Loss,Gain,Loss","<CN0>,<CN2>,<CN0>","DUP_gs,DUP_gs,DEL_union",null,"20758,20758,14279","8,6,20","0.00211808,0.00158898,0.00529801","3777,3776,3775","7,4,16","1,2,4","1,0,2","0.0019084,0,0.00381679","524,524,524","1,0,2","0,0,0","4,1,7","0.00398406,0.000996016,0.00697906","1004,1004,1003","3,0,6","1,1,1","1,4,1","0.00139276,0.00557103,0.00139276","718,718,718","1,4,1","0,0,0","0,0,7","0,0,0.00913838","766,766,766","0,0,5","0,0,2","2,1,3","0.00261438,0.0013089,0.0039267","765,764,764","2,0,2","0,1,1"]
["X:140785696","T/C",null,"PASS","0.142857","174,29",203,99,"0/1","SPANXD","missense_variant","Missense","NM_032417.3","NM_032417.3:c.220A>G","NP_115793.1:p.Lys74Glu","NM_032417.3","2","74.4898","SPANXD","NM_032417.3","mRNA","mRNA","-","NP_115793.1","NP_115793.1","64648","14332","300671","CCDS14675.1","06722","sperm protein associated with the nucleus on the X chromosome D",null,"True","T/C/G","rs2983592","RS orientation is reversed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Genotypes available","101","SNV",{"$nulls":36},"True","UW_VH_14239","Loss","<CN0>","DEL_union",null,"14279","20","0.00529801","3775","16","4","2","0.00381679","524","2","0","7","0.00697906","1003","6","1","1","0.00139276","718","1","0","7","0.00913838","766","5","2","3","0.0039267","764","2","1"]
["X:140786796","G/A",null,"PASS","0.134615","45,7",52,80,"0/1","SPANXD","5_prime_UTR_variant","Other","NM_032417.3","NM_032417.3:c.-234C>T",null,"NM_032417.3","1",null,"SPANXD","NM_032417.3","mRNA","mRNA","-","NP_115793.1","NP_115793.1","64648","14332","300671","CCDS14675.1","06722","sperm protein associated with the nucleus on the X chromosome D",null,"True","G/A","rs591309","Has SubmitterLinkOut,In 5' UTR,Is Assembly specific,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,1000 Genome phase 1,1000 Genome phase 3","83","SNV","0.4493,0.5507","True","G/A","rs142076675",null,8421,"2079","0.550728",3775,420,1169,"154","0.293893",524,63,72,"958","0.955135",1003,21,621,"422","0.587744",718,122,226,"294","0.383812",766,112,136,"251","0.328534",764,102,114,"False"]
["X:140983127","G/A",null,"PASS","0.686441","37,81",118,99,"0/1","MAGEC3","missense_variant","Missense","NM_138702.1","NM_138702.1:c.982G>A","NP_619647.1:p.Ala328Thr","NM_138702.1,NM_177456.2","5,2","50.7764,","MAGEC3,MAGEC3","NM_138702.1,NM_177456.2","mRNA,mRNA","mRNA,mRNA","+,+","NP_619647.1,NP_803251.1","NP_619647.1,NP_803251.1","139081,139081","23798,23798","300469,300469","CCDS14676.1,CCDS14677.1","06629,06629","melanoma-associated antigen C3 isoform 1,melanoma-associated antigen C3 isoform 2",",","True","G/A","rs176026","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,In 5' UTR,In 5' gene region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","79","SNV","0.3833,0.6167","True","G/A","rs176026","EX_TARGET",7453,"2328","0.616689",3775,508,1276,"361","0.688931",524,82,199,"431","0.429711",1003,163,197,"459","0.639276",718,103,252,"706","0.921671",766,39,443,"371","0.485602",764,121,185,"False"]
["X:140984250","C/T",null,"PASS","0.318966","79,37",116,99,"0/1","MAGEC3","5_prime_UTR_variant","Other","NM_138702.1","NM_138702.1:c.1124-418C>T",null,"NM_138702.1,NM_177456.2","7,4",",","MAGEC3,MAGEC3","NM_138702.1,NM_177456.2","mRNA,mRNA","mRNA,mRNA","+,+","NP_619647.1,NP_803251.1","NP_619647.1,NP_803251.1","139081,139081","23798,23798","300469,300469","CCDS14676.1,CCDS14677.1","06629,06629","melanoma-associated antigen C3 isoform 1,melanoma-associated antigen C3 isoform 2",",","True","C/T","rs2205912","Has SubmitterLinkOut,In 5' UTR,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1","96","SNV",{"$nulls":36},"False"]
["X:140993642","C/T",null,"PASS","0.31383","129,59",188,99,"0/1","MAGEC1","missense_variant","Missense","NM_005462.4","NM_005462.4:c.452C>T","NP_005453.2:p.Thr151Ile","NM_005462.4","4","13.1525","MAGEC1","NM_005462.4","mRNA","mRNA","+","NP_005453.2","NP_005453.2","9947","6812","300223","CCDS35417.1",null,"melanoma-associated antigen C1",null,"True","C/G/T","rs176037","Variant is Precious,Links exist to PubMed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","79","SNV","0.7075,,0.2925","True","C/T","rs176037","EX_TARGET",13816,"1104","0.29245",3775,465,516,"152","0.290076",524,64,74,"242","0.241276",1003,108,111,"187","0.260446",718,86,85,"378","0.493473",766,131,187,"145","0.189791",764,76,59,"False"]
["X:140994200","T/C",null,"PASS","0.696517","61,140",201,99,"0/1","MAGEC1","missense_variant","Missense","NM_005462.4","NM_005462.4:c.1010T>C","NP_005453.2:p.Leu337Pro","NM_005462.4","4","29.4255","MAGEC1","NM_005462.4","mRNA","mRNA","+","NP_005453.2","NP_005453.2","9947","6812","300223","CCDS35417.1",null,"melanoma-associated antigen C1",null,"True","T/C","rs57227275","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,Genotypes available,1000 Genome phase 1","129","SNV",{"$nulls":36},"False"]
["X:140994407","C/G",null,"PASS","0.664093","87,172",259,99,"0/1","MAGEC1","missense_variant","Missense","NM_005462.4","NM_005462.4:c.1217C>G","NP_005453.2:p.Ser406Cys","NM_005462.4","4","35.4622","MAGEC1","NM_005462.4","mRNA","mRNA","+","NP_005453.2","NP_005453.2","9947","6812","300223","CCDS35417.1",null,"melanoma-associated antigen C1",null,"True","C/G","rs62611965","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,1000 Genome phase 1,1000 Genome phase 3","129","SNV","0.925,0.07497","True","C/G","rs62611965","EX_TARGET",13424,"283","0.0749669",3775,168,104,"37","0.0706107",524,22,13,"52","0.0518445",1003,34,18,"102","0.142061",718,56,40,"58","0.075718",766,37,20,"34","0.0445026",764,19,13,"False"]
["X:140994419","T/C",null,"PASS","0.676349","78,163",241,99,"0/1","MAGEC1","missense_variant","Missense","NM_005462.4","NM_005462.4:c.1229T>C","NP_005453.2:p.Ile410Thr","NM_005462.4","4","35.8122","MAGEC1","NM_005462.4","mRNA","mRNA","+","NP_005453.2","NP_005453.2","9947","6812","300223","CCDS35417.1",null,"melanoma-associated antigen C1",null,"True","T/C","rs138268726","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,1000 Genome phase 1,1000 Genome phase 3","134","SNV","0.9248,0.07523","True","T/C","rs138268726","EX_TARGET",13350,"284","0.0752318",3775,167,105,"37","0.0706107",524,22,13,"53","0.0528415",1003,33,19,"102","0.142061",718,56,40,"58","0.075718",766,37,20,"34","0.0445026",764,19,13,"False"]
["X:140994517","C/G",null,"PASS","0.632558","79,136",215,99,"0/1","MAGEC1","missense_variant","Missense","NM_005462.4","NM_005462.4:c.1327C>G","NP_005453.2:p.Leu443Val","NM_005462.4","4","38.6702","MAGEC1","NM_005462.4","mRNA","mRNA","+","NP_005453.2","NP_005453.2","9947","6812","300223","CCDS35417.1",null,"melanoma-associated antigen C1",null,"True","C/G/T","rs62611966","Variant is Precious,Links exist to PubMed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,1000 Genome phase 1","129","SNV","0.9229,0.07656,0.0005298","True","C/G","rs62611966","EX_TARGET",13812,"290","0.0768212",3775,163,110,"37","0.0706107",524,22,13,"53","0.0528415",1003,33,19,"101","0.140669",718,53,41,"64","0.0835509",766,37,23,"35","0.0458115",764,18,14,"False"]
["X:140995315","C/T",null,"PASS","0.714286","32,80",112,99,"0/1","MAGEC1","missense_variant","Missense","NM_005462.4","NM_005462.4:c.2125C>T","NP_005453.2:p.His709Tyr","NM_005462.4","4","61.9423","MAGEC1","NM_005462.4","mRNA","mRNA","+","NP_005453.2","NP_005453.2","9947","6812","300223","CCDS35417.1",null,"melanoma-associated antigen C1",null,"True","C/T","rs56256227","Variant is Precious,Links exist to PubMed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),1000 Genome phase 1,1000 Genome phase 3","129","SNV","0.9176,0.08238","True","C/T","rs56256227","EX_TARGET",13461,"311","0.0823841",3775,181,116,"39","0.0744275",524,23,14,"74","0.0737787",1003,46,27,"102","0.142061",718,56,40,"63","0.0822454",766,38,22,"33","0.0431937",764,18,13,"False"]
["X:140996672","C/T",null,"PASS","0.625","39,65",104,99,"0/1","MAGEC1","3_prime_UTR_variant","Other","NM_005462.4","NM_005462.4:c.*53C>T",null,"NM_005462.4","4",null,"MAGEC1","NM_005462.4","mRNA","mRNA","+","NP_005453.2","NP_005453.2","9947","6812","300223","CCDS35417.1",null,"melanoma-associated antigen C1",null,"True","C/T","rs41300301","Variant is Precious,Links exist to PubMed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),1000 Genome phase 1,1000 Genome phase 3","127","SNV","0.9176,0.08238","True","C/T","rs41300301",null,12993,"311","0.0823841",3775,180,117,"38","0.0725191",524,22,14,"75","0.0747757",1003,46,28,"102","0.142061",718,56,40,"63","0.0822454",766,38,22,"33","0.0431937",764,18,13,"False"]
["X:142716114","G/A",null,"PASS","0.708075","47,114",161,99,"0/1","SLITRK4","3_prime_UTR_variant","Other","NM_173078.4","NM_173078.4:c.*297C>T",null,"NM_001184750.2,NM_173078.4,NM_001184749.2","2,2,2",",,","SLITRK4,SLITRK4,SLITRK4","NM_001184750.2,NM_173078.4,NM_001184749.2","mRNA,mRNA,mRNA","mRNA,mRNA,mRNA","-,-,-","NP_001171679.1,NP_775101.1,NP_001171678.1","NP_001171679.1,NP_775101.1,NP_001171678.1","139065,139065,139065","23502,23502,23502","300562,300562,300562","CCDS14679.1,CCDS14679.1,CCDS14679.1",",,","SLIT and NTRK-like protein 4 precursor,SLIT and NTRK-like protein 4 precursor,SLIT and NTRK-like protein 4 precursor",",,","True","G/A","rs5907446","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","114","SNV","0.5505,0.4495","True","G/A","rs5907446",null,10273,"1697","0.449536",3775,588,832,"220","0.419847",524,89,100,"228","0.227318",1003,114,95,"344","0.479109",718,118,173,"433","0.565274",766,133,219,"472","0.617801",764,134,245,"True","UW_VH_14318","Loss","<CN0>","DEL_union",null,"13710","8","0.00211921","3775","8","0","1","0.0019084","524","1","0","2","0.00199402","1003","2","0","0","0","718","0","0","5","0.00652742","766","5","0","0","0","764","0","0"]
["X:144910142","G/A",null,"PASS","0.762821","37,119",156,99,"0/1","TMEM257","3_prime_UTR_variant","Other","NM_004709.2","NM_004709.2:c.*611G>A",null,"NM_004709.2","1",null,"TMEM257","NM_004709.2","mRNA","mRNA","+","NP_004700.1","NP_004700.1","9142","2562","300565","CCDS14681.1","06477","transmembrane protein 257",null,"True","G/A","rs5919909","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","114","SNV","0.5221,0.4779","True","G/A","rs5919909",null,11717,"1804","0.477881",3775,584,914,"340","0.648855",524,77,192,"300","0.299103",1003,153,120,"327","0.455432",718,104,175,"497","0.648825",766,118,270,"340","0.445026",764,132,157,"False"]
["X:144910936","C/T",null,"PASS","0.614754","47,75",122,99,"0/1","TMEM257","3_prime_UTR_variant","Other","NM_004709.2","NM_004709.2:c.*1405C>T",null,"NM_004709.2","1",null,"TMEM257","NM_004709.2","mRNA","mRNA","+","NP_004700.1","NP_004700.1","9142","2562","300565","CCDS14681.1","06477","transmembrane protein 257",null,"True","C/T","rs2474402","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","100","SNV","0.04344,0.9566","True","C/T","rs2474402",null,13476,"3611","0.956556",3775,90,2351,"505","0.96374",524,13,329,"982","0.979063",1003,13,641,"706","0.983287",718,3,477,"654","0.853786",766,61,400,"764","1",764,0,504,"False"]
["X:148561332","C/T",null,"SOR3","0.818182","2,9",11,46,"0/1","IDS","3_prime_UTR_variant","Other","NM_000202.7","NM_000202.7:c.*2945G>A",null,"NM_000202.7,NM_001166550.3","9,9",",","IDS,IDS","NM_000202.7,NM_001166550.3","mRNA,mRNA","mRNA,mRNA","-,-","NP_000193.1,NP_001160022.1","NP_000193.1,NP_001160022.1","3423,3423","5389,5389","300823,300823","CCDS14685.1,","02402,02402","iduronate 2-sulfatase isoform a preproprotein,iduronate 2-sulfatase isoform c",",","True","C/T","rs8965","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","52","SNV","0.6135,0.3865","True","C/T","rs8965",null,14584,"1459","0.38649",3775,492,730,"155","0.295802",524,64,70,"535","0.5334",1003,160,279,"184","0.256267",718,86,83,"466","0.608355",766,119,248,"119","0.155759",764,63,50,"False"]
["X:148632145","G/A",null,"MQ40,QUAL30","0.666667","1,2",3,23,"0/1","CXorf40A","3_prime_UTR_variant","Other","NM_001171909.3","NM_001171909.3:c.*1176G>A",null,"NM_001324279.1,NM_001324276.1,NM_001171909.3","6,6,5",",,","CXorf40A,CXorf40A,CXorf40A","NM_001324279.1,NM_001324276.1,NM_001171909.3","mRNA,mRNA,mRNA","mRNA,mRNA,mRNA","+,+,+","NP_001311208.1,NP_001311205.1,NP_001165380.1","NP_001311208.1,NP_001311205.1,NP_001165380.1","91966,91966,91966","28089,28089,28089","300954,300954,300954","CCDS55522.1,CCDS55522.1,CCDS55522.1",",,","protein CXorf40A isoform b,protein CXorf40A isoform b,protein CXorf40A isoform b",",,","False",{"$nulls":41},"False"]
["X:148798670","C/T",null,"SOR3","0.631579","7,12",19,99,"0/1","MAGEA11","3_prime_UTR_variant","Other","NM_005366.4","NM_005366.4:c.*234C>T",null,"NM_001011544.1,NM_005366.4","5,5",",","MAGEA11,MAGEA11","NM_001011544.1,NM_005366.4","mRNA,mRNA","mRNA,mRNA","+,+","NP_001011544.1,NP_005357.2","NP_001011544.1,NP_005357.2","4110,4110","6798,6798","300344,300344",",CCDS48180.1","02281,02281","melanoma-associated antigen 11 isoform b,melanoma-associated antigen 11 isoform a",",","True","C/T","rs10126316","RS orientation is reversed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","119","SNV","0.6376,0.3624","True","C/T","rs10126316",null,15387,"1368","0.362384",3775,359,732,"138","0.263359",524,60,61,"746","0.743769",1003,127,432,"77","0.107242",718,36,37,"396","0.516971",766,127,200,"11","0.0143979",764,9,2,"True","DUP_gs.X_CNV_X_148771685_148811274","Gain","<CN2>","DUP_gs",null,"13917","1","0.000264901","3775","1","0","0","0","524","0","0","0","0","1003","0","0","0","0","718","0","0","0","0","766","0","0","1","0.0013089","764","1","0"]
["X:149904115","A/T",null,"PASS","0.731343","18,49",67,99,"0/1","MTMR1","3_prime_UTR_variant","Other","NM_001306144.1","NM_001306144.1:c.1081-952A>T",null,"NM_001306145.1,NM_001306144.1,NM_003828.3","10,11,10",",,","MTMR1,MTMR1,MTMR1","NM_001306145.1,NM_001306144.1,NM_003828.3","mRNA,mRNA,mRNA","mRNA,mRNA,mRNA","+,+,+","NP_001293074.1,NP_001293073.1,NP_003819.1","NP_001293074.1,NP_001293073.1,NP_003819.1","8776,8776,8776","7449,7449,7449","300171,300171,300171","CCDS78513.1,CCDS78512.1,CCDS14695.1",",,","myotubularin-related protein 1 isoform 3,myotubularin-related protein 1 isoform 1,myotubularin-related protein 1 isoform 2",",,","True","A/T","rs5970468","Has SubmitterLinkOut,In 3' UTR,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","114","SNV","0.9669,0.03311","True","A/T","rs5970468",null,15284,"125","0.0331126",3775,81,41,"15","0.028626",524,12,3,"7","0.00697906",1003,4,3,"21","0.0292479",718,13,8,"82","0.10705",766,52,27,"0","0",764,0,0,"False"]
["X:149937428","C/T",null,"PASS","0.279221","111,43",154,99,"0/1","CD99L2","3_prime_UTR_variant","Other","NM_001242614.1","NM_001242614.1:c.*79G>A",null,"NM_001184808.1,NM_134446.3,NM_134445.3,NM_001242614.1,NM_031462.3","8,9,8,12,11",",,,,","CD99L2,CD99L2,CD99L2,CD99L2,CD99L2","NM_001184808.1,NM_134446.3,NM_134445.3,NM_001242614.1,NM_031462.3","mRNA,mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA,mRNA","-,-,-,-,-","NP_001171737.1,NP_604395.1,NP_604394.1,NP_001229543.1,NP_113650.2","NP_001171737.1,NP_604395.1,NP_604394.1,NP_001229543.1,NP_113650.2","83692,83692,83692,83692,83692","18237,18237,18237,18237,18237","300846,300846,300846,300846,300846","CCDS55527.1,CCDS14698.1,CCDS14697.1,CCDS76044.1,CCDS35427.1",",,,,","CD99 antigen-like protein 2 isoform 4 precursor,CD99 antigen-like protein 2 isoform 2 precursor,CD99 antigen-like protein 2 isoform 3 precursor,CD99 antigen-like protein 2 isoform 5 precursor,CD99 antigen-like protein 2 isoform 1 precursor",",,,,","True","C/T","rs41311370","Has SubmitterLinkOut,Has reference A coding region,Has synonymous A coding region,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","127","SNV","0.9764,0.02358","True","C/T","rs41311370",null,10117,"89","0.0235762",3775,59,30,"8","0.0152672",524,7,1,"5","0.00498504",1003,5,0,"18","0.0250696",718,11,7,"57","0.0744125",766,35,22,"1","0.0013089",764,1,0,"False"]
["X:150067261","G/A",null,"SOR3","0.888889","1,8",9,12,"0/1","CD99L2","5_prime_UTR_variant","Other","NM_001242614.1","NM_001242614.1:c.-200C>T",null,"NM_001184808.1,NM_134446.3,NM_134445.3,NM_001242614.1,NM_031462.3","1,1,1,1,1",",,,,","CD99L2,CD99L2,CD99L2,CD99L2,CD99L2","NM_001184808.1,NM_134446.3,NM_134445.3,NM_001242614.1,NM_031462.3","mRNA,mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA,mRNA","-,-,-,-,-","NP_001171737.1,NP_604395.1,NP_604394.1,NP_001229543.1,NP_113650.2","NP_001171737.1,NP_604395.1,NP_604394.1,NP_001229543.1,NP_113650.2","83692,83692,83692,83692,83692","18237,18237,18237,18237,18237","300846,300846,300846,300846,300846","CCDS55527.1,CCDS14698.1,CCDS14697.1,CCDS76044.1,CCDS35427.1",",,,,","CD99 antigen-like protein 2 isoform 4 precursor,CD99 antigen-like protein 2 isoform 2 precursor,CD99 antigen-like protein 2 isoform 3 precursor,CD99 antigen-like protein 2 isoform 5 precursor,CD99 antigen-like protein 2 isoform 1 precursor",",,,,","False",{"$nulls":41},"False"]
["X:150349649","A/G",null,"PASS","0.67284","53,109",162,99,"0/1","GPR50","missense_variant","Missense","NM_004224.3","NM_004224.3:c.1594A>G","NP_004215.2:p.Thr532Ala","NM_004224.3","2","85.9223","GPR50","NM_004224.3","mRNA","mRNA","+","NP_004215.2","NP_004215.2","9248","4506","300207","CCDS44012.1",null,"melatonin-related receptor",null,"True","A/G","rs561077","Variant is Precious,Links exist to PubMed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","83","SNV","0.5709,0.4291","True","A/G","rs561077","EX_TARGET",15435,"1620","0.429139",3775,573,777,"286","0.545802",524,76,145,"527","0.525424",1003,159,269,"270","0.376045",718,107,128,"337","0.439948",766,132,155,"200","0.26178",764,99,80,"False"]
["X:150732081","T/C",null,"PASS","0.714286","2,5",7,28,"0/1","PASD1","5_prime_UTR_variant","Other","NM_173493.2","NM_173493.2:c.-258T>C",null,"NM_173493.2","1",null,"PASD1","NM_173493.2","mRNA","mRNA","+","NP_775764.2","NP_775764.2","139135","20686",null,"CCDS35431.1",null,"circadian clock protein PASD1",null,"True","T/A/C","rs5970069","Has SubmitterLinkOut,In 5' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","114","SNV","0.5732,,0.4268","True","T/C","rs5970069",null,10829,"1611","0.426755",3775,378,872,"134","0.255725",524,62,54,"877","0.874377",1003,73,539,"182","0.253482",718,92,78,"375","0.489556",766,124,186,"43","0.0562827",764,27,15,"False"]
["X:150817094","C/G",null,"PASS","0.690566","82,183",265,99,"0/1","PASD1","missense_variant","Missense","NM_173493.2","NM_173493.2:c.637C>G","NP_775764.2:p.Gln213Glu","NM_173493.2","9","27.3902","PASD1","NM_173493.2","mRNA","mRNA","+","NP_775764.2","NP_775764.2","139135","20686",null,"CCDS35431.1",null,"circadian clock protein PASD1",null,"True","C/G/T","rs5924658","Variant is Precious,Links exist to PubMed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","114","SNV","0.8646,0.1354,","True","C/G","rs5924658","EX_TARGET",13523,"511","0.135364",3775,255,210,"109","0.208015",524,64,39,"11","0.0109671",1003,10,1,"140","0.194986",718,62,60,"232","0.302872",766,106,105,"19","0.0248691",764,13,5,"False"]
["X:150840742","G/A",null,"PASS","0.593023","35,51",86,99,"0/1","PASD1","missense_variant","Missense","NM_173493.2","NM_173493.2:c.1525G>A","NP_775764.2:p.Val509Met","NM_173493.2","14","65.6331","PASD1","NM_173493.2","mRNA","mRNA","+","NP_775764.2","NP_775764.2","139135","20686",null,"CCDS35431.1",null,"circadian clock protein PASD1",null,"True","G/A","rs41312626","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,Marker on high density genotype kit (50K+),1000 Genome phase 1,1000 Genome phase 3","127","SNV","0.9857,0.0143","True","G/A","rs41312626","EX_TARGET",13895,"54","0.0143046",3775,36,18,"8","0.0152672",524,5,3,"3","0.00299103",1003,3,0,"21","0.0292479",718,13,8,"22","0.0287206",766,15,7,"0","0",764,0,0,"False"]
["X:150884620","C/T",null,"PASS","0.313609","116,53",169,99,"0/1","FATE1","missense_variant","Missense","NM_033085.2","NM_033085.2:c.29C>T","NP_149076.1:p.Ala10Val","NM_033085.2","1","5.07246","FATE1","NM_033085.2","mRNA","mRNA","+","NP_149076.1","NP_149076.1","89885","24683","300450","CCDS14700.1","02346","fetal and adult testis-expressed transcript protein",null,"True","C/T","rs3810715","RS orientation is reversed,Variant is Precious,Links exist to PubMed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","107","SNV","0.8821,0.1179","True","C/T","rs3810715","EX_TARGET",14637,"445","0.117881",3775,248,172,"52","0.0992366",524,36,16,"54","0.0538385",1003,32,22,"35","0.0487465",718,20,15,"118","0.154047",766,68,40,"186","0.243455",764,92,79,"False"]
["X:150909307","G/T",null,"PASS","0.675","26,54",80,99,"0/1","CNGA2","missense_variant","Missense","NM_005140.1","NM_005140.1:c.416G>T","NP_005131.1:p.Trp139Leu","NM_005140.1","5","20.802","CNGA2","NM_005140.1","mRNA","mRNA","+","NP_005131.1","NP_005131.1","1260","2149","300338","CCDS14701.1","08946","cyclic nucleotide-gated olfactory channel",null,"True","G/T","rs35350051","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","126","SNV","0.8789,0.1211","True","G/T","rs35350051","EX_TARGET",13777,"457","0.12106",3775,245,180,"75","0.14313",524,43,28,"9","0.00897308",1003,4,4,"78","0.108635",718,41,34,"96","0.125326",766,63,29,"199","0.260471",764,94,85,"False"]
["X:151092126","C/G",null,"PASS","0.701087","55,129",184,99,"0/1","MAGEA4","5_prime_UTR_variant","Other","NM_002362.4","NM_002362.4:c.-11C>G",null,"NM_001011548.1,NM_002362.4,NM_001011549.1,NM_001011550.1","3,3,3,3",",,,","MAGEA4,MAGEA4,MAGEA4,MAGEA4","NM_001011548.1,NM_002362.4,NM_001011549.1,NM_001011550.1","mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA","+,+,+,+","NP_001011548.1,NP_002353.3,NP_001011549.1,NP_001011550.1","NP_001011548.1,NP_002353.3,NP_001011549.1,NP_001011550.1","4103,4103,4103,4103","6802,6802,6802,6802","300175,300175,300175,300175","CCDS14702.1,CCDS14702.1,CCDS14702.1,CCDS14702.1",",,,","melanoma-associated antigen 4,melanoma-associated antigen 4,melanoma-associated antigen 4,melanoma-associated antigen 4",",,,","True","C/G","rs1047246","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,In 5' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","86","SNV","0.5383,0.4617","True","C/G","rs1047246","EX_TARGET",15682,"1743","0.461722",3775,651,823,"177","0.337786",524,86,74,"361","0.35992",1003,173,147,"347","0.483287",718,123,173,"375","0.489556",766,136,174,"483","0.632199",764,133,255,"False"]
["X:151092653","G/A",null,"PASS","0.595092","66,97",163,99,"0/1","MAGEA4","missense_variant","Missense","NM_002362.4","NM_002362.4:c.517G>A","NP_002353.3:p.Ala173Thr","NM_001011548.1,NM_002362.4,NM_001011549.1,NM_001011550.1","3,3,3,3","54.0881,54.0881,54.0881,54.0881","MAGEA4,MAGEA4,MAGEA4,MAGEA4","NM_001011548.1,NM_002362.4,NM_001011549.1,NM_001011550.1","mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA","+,+,+,+","NP_001011548.1,NP_002353.3,NP_001011549.1,NP_001011550.1","NP_001011548.1,NP_002353.3,NP_001011549.1,NP_001011550.1","4103,4103,4103,4103","6802,6802,6802,6802","300175,300175,300175,300175","CCDS14702.1,CCDS14702.1,CCDS14702.1,CCDS14702.1",",,,","melanoma-associated antigen 4,melanoma-associated antigen 4,melanoma-associated antigen 4,melanoma-associated antigen 4",",,,","True","G/A","rs1047251","Has 3D structure,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","86","SNV","0.4652,0.5348","True","G/A","rs1047251","EX_TARGET",14730,"2019","0.534834",3775,647,1012,"203","0.387405",524,85,92,"631","0.629113",1003,167,335,"331","0.461003",718,126,158,"400","0.522193",766,129,195,"454","0.594241",764,140,232,"False"]
["X:151093082","G/A",null,"PASS","0.335165","121,61",182,99,"0/1","MAGEA4","missense_variant","Missense","NM_002362.4","NM_002362.4:c.946G>A","NP_002353.3:p.Gly316Arg","NM_001011548.1,NM_002362.4,NM_001011549.1,NM_001011550.1","3,3,3,3","99.0566,99.0566,99.0566,99.0566","MAGEA4,MAGEA4,MAGEA4,MAGEA4","NM_001011548.1,NM_002362.4,NM_001011549.1,NM_001011550.1","mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA","+,+,+,+","NP_001011548.1,NP_002353.3,NP_001011549.1,NP_001011550.1","NP_001011548.1,NP_002353.3,NP_001011549.1,NP_001011550.1","4103,4103,4103,4103","6802,6802,6802,6802","300175,300175,300175,300175","CCDS14702.1,CCDS14702.1,CCDS14702.1,CCDS14702.1",",,,","melanoma-associated antigen 4,melanoma-associated antigen 4,melanoma-associated antigen 4,melanoma-associated antigen 4",",,,","True","G/A","rs142110631","Has 3D structure,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,Marker on high density genotype kit (50K+),1000 Genome phase 1,1000 Genome phase 3","134","SNV","0.9989,0.00106","True","G/A","rs142110631","EX_TARGET",14679,"4","0.0010596",3775,1,3,"3","0.00572519",524,1,2,"0","0",1003,0,0,"0","0",718,0,0,"1","0.00130548",766,0,1,"0","0",764,0,0,"False"]
["X:151138179","A/C",null,"PASS","0.298429","134,57",191,99,"0/1","GABRE","missense_variant","Missense","NM_004961.3","NM_004961.3:c.304T>G","NP_004952.2:p.Ser102Ala","NM_004961.3","3","19.9211","GABRE","NM_004961.3","mRNA","mRNA","-","NP_004952.2","NP_004952.2","2564","4085","300093","CCDS14703.1",null,"gamma-aminobutyric acid receptor subunit epsilon precursor",null,"True","A/C/T","rs1139916","RS orientation is reversed,Variant is Precious,Links exist to PubMed,Has 3D structure,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,In 5' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","86","SNV","0.2935,0.7065,","True","A/C","rs1139916","EX_TARGET",13577,"2667","0.70649",3775,451,1536,"388","0.740458",524,64,222,"483","0.481555",1003,163,233,"604","0.841226",718,57,384,"535","0.698433",766,111,293,"657","0.859948",764,56,404,"False"]
["X:151821277","T/A",null,"PASS","0.683333","38,82",120,99,"0/1","GABRQ","missense_variant","Missense","NM_018558.3","NM_018558.3:c.1432T>A","NP_061028.3:p.Phe478Ile","NM_018558.3","9","75.3555","GABRQ","NM_018558.3","mRNA","mRNA","+","NP_061028.3","NP_061028.3","55879","14454","300349","CCDS14707.1",null,"gamma-aminobutyric acid receptor subunit theta precursor",null,"True","T/A","rs3810651","Variant is Precious,Links exist to PubMed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","107","SNV","0.5645,0.4355","True","T/A","rs3810651","EX_TARGET",16054,"1644","0.435497",3775,520,818,"372","0.709924",524,65,212,"273","0.272183",1003,109,125,"302","0.420613",718,112,143,"426","0.556136",766,135,209,"271","0.354712",764,99,129,"False"]
["X:151934751","A/G",null,"MQ40,SOR3","0.166667","120,24",144,99,"0/1","MAGEA6","3_prime_UTR_variant","Other","NM_005363.3","NM_005363.3:c.*471T>C",null,"NM_005363.3,NM_175868.2","3,3",",","MAGEA6,MAGEA6","NM_005363.3,NM_175868.2","mRNA,mRNA","mRNA,mRNA","-,-","NP_005354.1,NP_787064.1","NP_005354.1,NP_787064.1","4105,4105","6804,6804","300176,300176","CCDS76050.1,CCDS76050.1","02168,02168","melanoma-associated antigen 6,melanoma-associated antigen 6",",","True","A/G","rs868937466","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific","147","SNV",{"$nulls":36},"False"]
["X:151934848","A/T",null,"PASS","0.241497","223,71",294,99,"0/1","MAGEA6","3_prime_UTR_variant","Other","NM_005363.3","NM_005363.3:c.*374T>A",null,"NM_005363.3,NM_175868.2","3,3",",","MAGEA6,MAGEA6","NM_005363.3,NM_175868.2","mRNA,mRNA","mRNA,mRNA","-,-","NP_005354.1,NP_787064.1","NP_005354.1,NP_787064.1","4105,4105","6804,6804","300176,300176","CCDS76050.1,CCDS76050.1","02168,02168","melanoma-associated antigen 6,melanoma-associated antigen 6",",","True","A/T","rs3175206","RS orientation is reversed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1","105","SNV",{"$nulls":36},"False"]
["X:152226542","T/C",null,"PASS","0.65942","47,91",138,99,"0/1","PNMA3","missense_variant","Missense","NM_013364.5","NM_013364.5:c.1130T>C","NP_037496.4:p.Val377Ala","NM_013364.5,NM_001282535.1","2,2","81.1063,82.5292","PNMA3,PNMA3","NM_013364.5,NM_001282535.1","mRNA,mRNA","mRNA,mRNA","+,+","NP_037496.4,NP_001269464.1","NP_037496.4,NP_001269464.1","29944,29944","18742,18742","300675,300675","CCDS35435.2,CCDS65344.1",",","paraneoplastic antigen Ma3 isoform 1,paraneoplastic antigen Ma3 isoform 2",",","True","T/C/G","rs6526155","Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","116","SNV","0.09616,0.9038,","True","T/C","rs6526155","EX_TARGET",13250,"3412","0.903841",3775,216,2155,"488","0.931298",524,26,312,"939","0.936191",1003,45,598,"601","0.837047",718,62,378,"672","0.877285",766,49,415,"712","0.931937",764,34,452,"False"]
["X:152228332","A/G",null,"PASS","0.6375","58,102",160,99,"0/1","PNMA3","3_prime_UTR_variant","Other","NM_013364.5","NM_013364.5:c.*1528A>G",null,"NM_013364.5,NM_001282535.1","2,3",",","PNMA3,PNMA3","NM_013364.5,NM_001282535.1","mRNA,mRNA","mRNA,mRNA","+,+","NP_037496.4,NP_001269464.1","NP_037496.4,NP_001269464.1","29944,29944","18742,18742","300675,300675","CCDS35435.2,CCDS65344.1",",","paraneoplastic antigen Ma3 isoform 1,paraneoplastic antigen Ma3 isoform 2",",","True","A/G","rs2301182","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","100","SNV","0.747,0.253","True","A/G","rs2301182",null,11667,"955","0.25298",3775,444,417,"209","0.398855",524,89,97,"31","0.0309073",1003,26,5,"288","0.401114",718,113,143,"198","0.258486",766,108,78,"229","0.299738",764,108,94,"False"]
["X:152228523","T/C",null,"PASS","0.733333","36,99",135,99,"0/1","PNMA3","3_prime_UTR_variant","Other","NM_013364.5","NM_013364.5:c.*1719T>C",null,"NM_013364.5,NM_001282535.1","2,3",",","PNMA3,PNMA3","NM_013364.5,NM_001282535.1","mRNA,mRNA","mRNA,mRNA","+,+","NP_037496.4,NP_001269464.1","NP_037496.4,NP_001269464.1","29944,29944","18742,18742","300675,300675","CCDS35435.2,CCDS65344.1",",","paraneoplastic antigen Ma3 isoform 1,paraneoplastic antigen Ma3 isoform 2",",","True","T/C","rs9035","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","52","SNV","0.2087,0.7913","True","T/C","rs9035",null,12194,"2987","0.791258",3775,398,1783,"464","0.885496",524,36,290,"826","0.823529",1003,100,499,"463","0.644847",718,97,265,"637","0.831593",766,76,381,"597","0.781414",764,89,348,"False"]
["X:152228776","C/T",null,"PASS","0.613139","53,84",137,99,"0/1","PNMA3","3_prime_UTR_variant","Other","NM_013364.5","NM_013364.5:c.*1972C>T",null,"NM_013364.5,NM_001282535.1","2,3",",","PNMA3,PNMA3","NM_013364.5,NM_001282535.1","mRNA,mRNA","mRNA,mRNA","+,+","NP_037496.4,NP_001269464.1","NP_037496.4,NP_001269464.1","29944,29944","18742,18742","300675,300675","CCDS35435.2,CCDS65344.1",",","paraneoplastic antigen Ma3 isoform 1,paraneoplastic antigen Ma3 isoform 2",",","True","C/T","rs2301185","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","100","SNV","0.7433,0.2567","True","C/T","rs2301185",null,13468,"969","0.256689",3775,440,423,"210","0.400763",524,85,99,"31","0.0309073",1003,26,5,"299","0.416435",718,113,148,"197","0.25718",766,106,78,"232","0.303665",764,110,93,"False"]
["X:152228778","T/G",null,"PASS","0.613139","53,84",137,99,"0/1","PNMA3","3_prime_UTR_variant","Other","NM_013364.5","NM_013364.5:c.*1974T>G",null,"NM_013364.5,NM_001282535.1","2,3",",","PNMA3,PNMA3","NM_013364.5,NM_001282535.1","mRNA,mRNA","mRNA,mRNA","+,+","NP_037496.4,NP_001269464.1","NP_037496.4,NP_001269464.1","29944,29944","18742,18742","300675,300675","CCDS35435.2,CCDS65344.1",",","paraneoplastic antigen Ma3 isoform 1,paraneoplastic antigen Ma3 isoform 2",",","True","T/G","rs7122","RS orientation is reversed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","52","SNV","0.5128,0.4872","True","T/G","rs7122",null,13373,"1839","0.487152",3775,590,911,"291","0.555344",524,96,146,"380","0.378863",1003,155,162,"391","0.544568",718,111,210,"540","0.704961",766,117,297,"237","0.310209",764,111,96,"False"]
["X:152481634","G/A",null,"PASS","0.256757","55,19",74,99,"0/1","MAGEA1","3_prime_UTR_variant","Other","NM_004988.4","NM_004988.4:c.*447C>T",null,"NM_004988.4","3",null,"MAGEA1","NM_004988.4","mRNA","mRNA","-","NP_004979.3","NP_004979.3","4100","6796","300016","CCDS76051.1",null,"melanoma-associated antigen 1",null,"True","G/A/C","rs45558344","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,1000 Genome phase 1,1000 Genome phase 3","127","SNV","0.8887,0.1113,","True","G/A","rs45558344",null,13619,"420","0.111258",3775,233,169,"36","0.0687023",524,21,14,"33","0.0329013",1003,26,7,"150","0.208914",718,73,69,"87","0.113577",766,52,31,"114","0.149215",764,61,48,"True","DUP_gs.X_CNV_X_152413932_152529446","Gain","<CN2>","DUP_gs",null,"8325","4","0.0010596","3775","3","1","0","0","524","0","0","1","0.000997009","1003","1","0","1","0.00139276","718","1","0","0","0","766","0","0","2","0.0026178","764","1","1"]
["X:152482064","T/C",null,"PASS","0.340659","120,62",182,99,"0/1","MAGEA1","3_prime_UTR_variant","Other","NM_004988.4","NM_004988.4:c.*17A>G",null,"NM_004988.4","3",null,"MAGEA1","NM_004988.4","mRNA","mRNA","-","NP_004979.3","NP_004979.3","4100","6796","300016","CCDS76051.1",null,"melanoma-associated antigen 1",null,"True","T/C","rs2233046","RS orientation is reversed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","98","SNV","0.8885,0.1115","True","T/C","rs2233046","EX_TARGET",14061,"421","0.111523",3775,233,170,"36","0.0687023",524,21,14,"34","0.0338983",1003,26,8,"150","0.208914",718,73,69,"87","0.113577",766,52,31,"114","0.149215",764,61,48,"True","DUP_gs.X_CNV_X_152413932_152529446","Gain","<CN2>","DUP_gs",null,"8325","4","0.0010596","3775","3","1","0","0","524","0","0","1","0.000997009","1003","1","0","1","0.00139276","718","1","0","0","0","766","0","0","2","0.0026178","764","1","1"]
["X:152482824","C/T",null,"PASS","0.681564","57,122",179,99,"0/1","MAGEA1","missense_variant","Missense","NM_004988.4","NM_004988.4:c.187G>A","NP_004979.3:p.Ala63Thr","NM_004988.4","3","20","MAGEA1","NM_004988.4","mRNA","mRNA","-","NP_004979.3","NP_004979.3","4100","6796","300016","CCDS76051.1",null,"melanoma-associated antigen 1",null,"True","C/T","rs2233044","RS orientation is reversed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","98","SNV","0.9902,0.009801","True","C/T","rs2233044","EX_TARGET",13122,"37","0.00980132",3775,24,13,"1","0.0019084",524,1,0,"3","0.00299103",1003,2,1,"10","0.0139276",718,5,5,"23","0.0300261",766,16,7,"0","0",764,0,0,"True","DUP_gs.X_CNV_X_152413932_152529446","Gain","<CN2>","DUP_gs",null,"8325","4","0.0010596","3775","3","1","0","0","524","0","0","1","0.000997009","1003","1","0","1","0.00139276","718","1","0","0","0","766","0","0","2","0.0026178","764","1","1"]
["X:152482917","T/C",null,"PASS","0.333333","116,58",174,99,"0/1","MAGEA1","missense_variant","Missense","NM_004988.4","NM_004988.4:c.94A>G","NP_004979.3:p.Thr32Ala","NM_004988.4","3","10","MAGEA1","NM_004988.4","mRNA","mRNA","-","NP_004979.3","NP_004979.3","4100","6796","300016","CCDS76051.1",null,"melanoma-associated antigen 1",null,"True","T/C","rs2008160","RS orientation is reversed,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","92","SNV","0.6432,0.3568","True","T/C","rs2008160","EX_TARGET",13567,"1347","0.356821",3775,534,632,"189","0.360687",524,81,85,"379","0.377866",1003,160,172,"196","0.272981",718,97,87,"126","0.164491",766,73,45,"457","0.598168",764,123,243,"True","DUP_gs.X_CNV_X_152413932_152529446","Gain","<CN2>","DUP_gs",null,"8325","4","0.0010596","3775","3","1","0","0","524","0","0","1","0.000997009","1003","1","0","1","0.00139276","718","1","0","0","0","766","0","0","2","0.0026178","764","1","1"]
["X:152613702","A/G",null,"PASS","0.344444","118,62",180,99,"0/1","ZNF275","3_prime_UTR_variant","Other","NM_001080485.3","NM_001080485.3:c.*471A>G",null,"NM_001080485.3","5",null,"ZNF275","NM_001080485.3","mRNA","mRNA","+","NP_001073954.3","NP_001073954.3","10838","13069",null,"CCDS48188.2",null,"zinc finger protein 275",null,"True","A/G","rs1557508","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","88","SNV","0.2763,0.7237","True","A/G","rs1557508",null,9568,"2732","0.723709",3775,455,1587,"397","0.757634",524,68,232,"874","0.871386",1003,75,537,"471","0.655989",718,94,273,"386","0.503916",766,134,190,"604","0.790576",764,84,355,"False"]
["X:152616741","A/T",null,"PASS","0.288136","126,51",177,99,"0/1","ZNF275","3_prime_UTR_variant","Other","NM_001080485.3","NM_001080485.3:c.*3510A>T",null,"NM_001080485.3","5",null,"ZNF275","NM_001080485.3","mRNA","mRNA","+","NP_001073954.3","NP_001073954.3","10838","13069",null,"CCDS48188.2",null,"zinc finger protein 275",null,"True","A/T","rs8781","Has SubmitterLinkOut,In 3' UTR,In 5' gene region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","52","SNV","0.2403,0.7597","True","A/T","rs8781",null,16405,"2868","0.759735",3775,410,1696,"407","0.776718",524,64,241,"920","0.917248",1003,48,582,"503","0.700557",718,94,293,"428","0.558747",766,122,220,"610","0.798429",764,82,360,"False"]
["X:152616952","A/G",null,"PASS","0.327586","39,19",58,99,"0/1","ZNF275","3_prime_UTR_variant","Other","NM_001080485.3","NM_001080485.3:c.*3721A>G",null,"NM_001080485.3","5",null,"ZNF275","NM_001080485.3","mRNA","mRNA","+","NP_001073954.3","NP_001073954.3","10838","13069",null,"CCDS48188.2",null,"zinc finger protein 275",null,"True","A/G","rs3256","RS orientation is reversed,Has SubmitterLinkOut,In 3' UTR,In 5' gene region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","36","SNV","0.2758,0.7242","True","A/G","rs3256",null,15894,"2734","0.724238",3775,448,1593,"397","0.757634",524,68,232,"881","0.878365",1003,70,545,"470","0.654596",718,95,272,"382","0.498695",766,131,189,"604","0.790576",764,84,355,"False"]
["X:152774031","G/A",null,"PASS","0.682927","13,28",41,99,"0/1","BGN","3_prime_UTR_variant","Other","NM_001711.5","NM_001711.5:c.*128G>A",null,"NM_001711.5","8",null,"BGN","NM_001711.5","mRNA","mRNA","+","NP_001702.1","NP_001702.1","633","1044","301870","CCDS14721.1",null,"biglycan preproprotein",null,"True","G/A","rs1042103","Variant is Precious,Links exist to PubMed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","86","SNV","0.8273,0.1727","True","G/A","rs1042103",null,10537,"652","0.172715",3775,324,269,"85","0.162214",524,44,36,"56","0.0558325",1003,39,17,"158","0.220056",718,85,63,"297","0.387728",766,119,135,"56","0.0732984",764,37,18,"False"]
["X:152774154","A/T",null,"PASS","0.428571","4,3",7,95,"0/1","BGN","3_prime_UTR_variant","Other","NM_001711.5","NM_001711.5:c.*251A>T",null,"NM_001711.5","8",null,"BGN","NM_001711.5","mRNA","mRNA","+","NP_001702.1","NP_001702.1","633","1044","301870","CCDS14721.1",null,"biglycan preproprotein",null,"True","A/T","rs743641","Variant is Precious,Links exist to PubMed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","86","SNV","0.6842,0.3158","True","A/T","rs743641",null,12028,"1192","0.315762",3775,488,542,"231","0.44084",524,79,111,"432","0.430708",1003,170,197,"212","0.295265",718,87,99,"76","0.0992167",766,47,29,"241","0.315445",764,105,106,"False"]
["X:152847488","T/G",null,"PASS","0.769231","6,20",26,99,"0/1","ATP2B3","3_prime_UTR_variant","Other","NM_001001344.2","NM_001001344.2:c.*1732T>G",null,"NM_021949.3,NM_001001344.2","21,20",",","ATP2B3,ATP2B3","NM_021949.3,NM_001001344.2","mRNA,mRNA","mRNA,mRNA","+,+","NP_068768.2,NP_001001344.1","NP_068768.2,NP_001001344.1","492,492","816,816","300014,300014","CCDS14722.1,CCDS35440.1","02057,02057","plasma membrane calcium-transporting ATPase 3 isoform 3a,plasma membrane calcium-transporting ATPase 3 isoform 3b",",","True","T/G","rs5945311","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","114","SNV","0.1481,0.8519","True","T/G","rs5945311",null,12600,"3216","0.851921",3775,315,1973,"427","0.814885",524,54,254,"852","0.849452",1003,90,513,"586","0.816156",718,55,372,"718","0.937337",766,34,455,"633","0.828534",764,82,379,"False"]
["X:152960939","A/C",null,"FS60,QD2,SOR3","0.169014","59,12",71,96,"0/1","SLC6A8","3_prime_UTR_variant","Other","NM_005629.3","NM_005629.3:c.*270A>C",null,"NM_005629.3,NM_001142805.1,NM_001142806.1","13,13,13",",,","SLC6A8,SLC6A8,SLC6A8","NM_005629.3,NM_001142805.1,NM_001142806.1","mRNA,mRNA,mRNA","mRNA,mRNA,mRNA","+,+,+","NP_005620.1,NP_001136277.1,NP_001136278.1","NP_005620.1,NP_001136277.1,NP_001136278.1","6535,6535,6535","11055,11055,11055","300036,300036,300036","CCDS14726.1,,CCDS48190.1",",,","sodium- and chloride-dependent creatine transporter 1 isoform 1,sodium- and chloride-dependent creatine transporter 1 isoform 2,sodium- and chloride-dependent creatine transporter 1 isoform 3",",,","False",{"$nulls":41},"False"]
["X:153009197","G/C",null,"PASS","0.627907","16,27",43,99,"0/1","ABCD1","3_prime_UTR_variant","Other","NM_000033.3","NM_000033.3:c.*8G>C",null,"NM_000033.3","10",null,"ABCD1","NM_000033.3","mRNA","mRNA","+","NP_000024.2","NP_000024.2","215","61","300371","CCDS14728.1","02300","ATP-binding cassette sub-family D member 1",null,"True","G/C","rs2229539","Variant is Precious,Links exist to PubMed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","98","SNV","0.2596,0.7404","True","G/C","rs2229539","EX_TARGET",7274,"2795","0.740397",3775,460,1629,"391","0.746183",524,72,225,"881","0.878365",1003,70,543,"571","0.795265",718,74,353,"489","0.638381",766,134,258,"463","0.606021",764,110,250,"False",{"$nulls":36},"G/C","92313","Benign","Benign","Benign (7)","(2 Stars) Criteria Provided, Multiple Submitters, No Conflicts","rs2229539","ABCD1","215","NC_000023.10:g.153009197G>C","NC_000023.11:g.153743743G>C","NM_000033.3:c.*8G>C",null,"RCV000077949,RCV000360011,RCV000675199,RCV000715337","not specified,Adrenoleukodystrophy,not provided,History of neurodevelopmental disorder","Benign,Benign,Benign,Benign","(2 Stars) Criteria Provided, Multiple Submitters, No Conflicts,(1 Stars) Criteria Provided, Single Submitter,(1 Stars) Criteria Provided, Single Submitter,(1 Stars) Criteria Provided, Single Submitter","2018-05-25,2016-06-14,2017-05-02,2015-08-27"]
["X:153009838","C/A",null,"PASS","0.114286","31,4",35,42,"0/1","ABCD1","3_prime_UTR_variant","Other","NM_000033.3","NM_000033.3:c.*649C>A",null,"NM_000033.3","10",null,"ABCD1","NM_000033.3","mRNA","mRNA","+","NP_000024.2","NP_000024.2","215","61","300371","CCDS14728.1","02300","ATP-binding cassette sub-family D member 1",null,"True","C/A","rs372449563","In 3' UTR,Is Assembly specific","138","SNV",{"$nulls":36},"False"]
["X:153009876","G/C",null,"SOR3","0.09375","58,6",64,35,"0/1","ABCD1","3_prime_UTR_variant","Other","NM_000033.3","NM_000033.3:c.*687G>C",null,"NM_000033.3","10",null,"ABCD1","NM_000033.3","mRNA","mRNA","+","NP_000024.2","NP_000024.2","215","61","300371","CCDS14728.1","02300","ATP-binding cassette sub-family D member 1",null,"True","G/A/C","rs377207559","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific","138","SNV",{"$nulls":36},"False"]
["X:153009912","G/C",null,"SOR3","0.08","69,6",75,41,"0/1","ABCD1","3_prime_UTR_variant","Other","NM_000033.3","NM_000033.3:c.*723G>C",null,"NM_000033.3","10",null,"ABCD1","NM_000033.3","mRNA","mRNA","+","NP_000024.2","NP_000024.2","215","61","300371","CCDS14728.1","02300","ATP-binding cassette sub-family D member 1",null,"True","G/C","rs369704281","In 3' UTR,Is Assembly specific","138","SNV",{"$nulls":36},"False"]
["X:153009991","G/T",null,"PASS","0.0779221","71,6",77,77,"0/1","ABCD1","3_prime_UTR_variant","Other","NM_000033.3","NM_000033.3:c.*802G>T",null,"NM_000033.3","10",null,"ABCD1","NM_000033.3","mRNA","mRNA","+","NP_000024.2","NP_000024.2","215","61","300371","CCDS14728.1","02300","ATP-binding cassette sub-family D member 1",null,"True","G/T","rs879957599","In 3' UTR,Is Assembly specific","149","SNV",{"$nulls":36},"False"]
["X:153009994","G/C",null,"PASS","0.102564","70,8",78,99,"0/1","ABCD1","3_prime_UTR_variant","Other","NM_000033.3","NM_000033.3:c.*805G>C",null,"NM_000033.3","10",null,"ABCD1","NM_000033.3","mRNA","mRNA","+","NP_000024.2","NP_000024.2","215","61","300371","CCDS14728.1","02300","ATP-binding cassette sub-family D member 1",null,"True","G/C","rs879979866","In 3' UTR,Is Assembly specific","149","SNV",{"$nulls":36},"False"]
["X:153010014","C/T",null,"PASS","0.116883","68,9",77,99,"0/1","ABCD1","3_prime_UTR_variant","Other","NM_000033.3","NM_000033.3:c.*825C>T",null,"NM_000033.3","10",null,"ABCD1","NM_000033.3","mRNA","mRNA","+","NP_000024.2","NP_000024.2","215","61","300371","CCDS14728.1","02300","ATP-binding cassette sub-family D member 1",null,"False",{"$nulls":41},"False"]
["X:153010019","A/G",null,"PASS","0.1125","71,9",80,99,"0/1","ABCD1","3_prime_UTR_variant","Other","NM_000033.3","NM_000033.3:c.*830A>G",null,"NM_000033.3","10",null,"ABCD1","NM_000033.3","mRNA","mRNA","+","NP_000024.2","NP_000024.2","215","61","300371","CCDS14728.1","02300","ATP-binding cassette sub-family D member 1",null,"False",{"$nulls":41},"False"]
["X:153010020","G/T",null,"PASS","0.109756","73,9",82,99,"0/1","ABCD1","3_prime_UTR_variant","Other","NM_000033.3","NM_000033.3:c.*831G>T",null,"NM_000033.3","10",null,"ABCD1","NM_000033.3","mRNA","mRNA","+","NP_000024.2","NP_000024.2","215","61","300371","CCDS14728.1","02300","ATP-binding cassette sub-family D member 1",null,"True","G/T","rs879964075","In 3' UTR,Is Assembly specific","149","SNV",{"$nulls":36},"False"]
["X:153010059","G/T",null,"PASS","0.111111","72,9",81,32,"0/1","ABCD1","3_prime_UTR_variant","Other","NM_000033.3","NM_000033.3:c.*870G>T",null,"NM_000033.3","10",null,"ABCD1","NM_000033.3","mRNA","mRNA","+","NP_000024.2","NP_000024.2","215","61","300371","CCDS14728.1","02300","ATP-binding cassette sub-family D member 1",null,"True","G/T","rs72616452","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Genotypes available","130","SNV",{"$nulls":36},"False",{"$nulls":36},"G/T","368065","Uncertain Significance","Uncertain Significance","Uncertain significance (1)","(1 Stars) Criteria Provided, Single Submitter","rs72616452","ABCD1","215","NC_000023.10:g.153010059G>T","NC_000023.11:g.153744605G>T","NM_000033.3:c.*870G>T",null,"RCV000353490","Adrenoleukodystrophy","Uncertain Significance","(1 Stars) Criteria Provided, Single Submitter","2016-06-14"]
["X:153010066","C/T",null,"PASS","0.65","28,52",80,99,"0/1","ABCD1","3_prime_UTR_variant","Other","NM_000033.3","NM_000033.3:c.*877C>T",null,"NM_000033.3","10",null,"ABCD1","NM_000033.3","mRNA","mRNA","+","NP_000024.2","NP_000024.2","215","61","300371","CCDS14728.1","02300","ATP-binding cassette sub-family D member 1",null,"True","C/T","rs11803","RS orientation is reversed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 3","52","SNV","0.2689,0.7311","True","C/T","rs11803",null,10196,"2760","0.731126",3775,464,1603,"383","0.730916",524,74,219,"881","0.878365",1003,70,543,"566","0.788301",718,78,348,"471","0.614883",766,135,245,"459","0.600785",764,107,248,"False",{"$nulls":36},"C/T","368066","Benign","Benign","Benign (1)","(1 Stars) Criteria Provided, Single Submitter","rs11803","ABCD1","215","NC_000023.10:g.153010066C>T","NC_000023.11:g.153744612C>T","NM_000033.3:c.*877C>T",null,"RCV000394962","Adrenoleukodystrophy","Benign","(1 Stars) Criteria Provided, Single Submitter","2016-06-14"]
["X:153010083","G/A",null,"PASS","0.625","33,55",88,99,"0/1","ABCD1","3_prime_UTR_variant","Other","NM_000033.3","NM_000033.3:c.*894G>A",null,"NM_000033.3","10",null,"ABCD1","NM_000033.3","mRNA","mRNA","+","NP_000024.2","NP_000024.2","215","61","300371","CCDS14728.1","02300","ATP-binding cassette sub-family D member 1",null,"True","G/A","rs1055847","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","86","SNV","0.5401,0.4599","True","G/A","rs1055847",null,10233,"1736","0.459868",3775,510,904,"318","0.60687",524,81,171,"195","0.194417",1003,102,75,"449","0.625348",718,91,262,"398","0.519582",766,134,201,"376","0.492147",764,102,195,"False",{"$nulls":36},"G/A","368067","Benign","Benign","Benign (1)","(1 Stars) Criteria Provided, Single Submitter","rs1055847","ABCD1","215","NC_000023.10:g.153010083G>A","NC_000023.11:g.153744629G>A","NM_000033.3:c.*894G>A",null,"RCV000305050","Adrenoleukodystrophy","Benign","(1 Stars) Criteria Provided, Single Submitter","2016-06-14"]
["X:153010090","G/A",null,"PASS","0.105882","76,9",85,99,"0/1","ABCD1","3_prime_UTR_variant","Other","NM_000033.3","NM_000033.3:c.*901G>A",null,"NM_000033.3","10",null,"ABCD1","NM_000033.3","mRNA","mRNA","+","NP_000024.2","NP_000024.2","215","61","300371","CCDS14728.1","02300","ATP-binding cassette sub-family D member 1",null,"True","G/A","rs75637470","In 3' UTR,Is Assembly specific","131","SNV",{"$nulls":36},"False"]
["X:153010092","G/A",null,"PASS","0.107143","75,9",84,99,"0/1","ABCD1","3_prime_UTR_variant","Other","NM_000033.3","NM_000033.3:c.*903G>A",null,"NM_000033.3","10",null,"ABCD1","NM_000033.3","mRNA","mRNA","+","NP_000024.2","NP_000024.2","215","61","300371","CCDS14728.1","02300","ATP-binding cassette sub-family D member 1",null,"True","G/A","rs78155328","In 3' UTR,Is Assembly specific","131","SNV",{"$nulls":36},"False",{"$nulls":36},"G/A","368068","Uncertain Significance","Uncertain Significance","Uncertain significance (1)","(1 Stars) Criteria Provided, Single Submitter","rs78155328","ABCD1","215","NC_000023.10:g.153010092G>A","NC_000023.11:g.153744638G>A","NM_000033.3:c.*903G>A",null,"RCV000359653","Adrenoleukodystrophy","Uncertain Significance","(1 Stars) Criteria Provided, Single Submitter","2016-06-14"]
["X:153044664","A/C",null,"FS60,SOR3","0.180124","132,29",161,99,"0/1","PLXNB3","3_prime_UTR_variant","Other","NM_001163257.1","NM_001163257.1:c.*170A>C",null,"NM_005393.2,NM_001163257.1","36,37",",","PLXNB3,PLXNB3","NM_005393.2,NM_001163257.1","mRNA,mRNA","mRNA,mRNA","+,+","NP_005384.2,NP_001156729.1","NP_005384.2,NP_001156729.1","5365,5365","9105,9105","300214,300214","CCDS14729.1,CCDS55536.1",",","plexin-B3 isoform 1 precursor,plexin-B3 isoform 2",",","True","A/C","rs868989309","Has SubmitterLinkOut,In 3' UTR,In 3' gene region,In 5' gene region,Is Assembly specific","147","SNV",{"$nulls":36},"False"]
["X:153044668","A/C",null,"FS60,QD2,SOR3","0.09375","145,15",160,99,"0/1","PLXNB3","3_prime_UTR_variant","Other","NM_001163257.1","NM_001163257.1:c.*174A>C",null,"NM_005393.2,NM_001163257.1","36,37",",","PLXNB3,PLXNB3","NM_005393.2,NM_001163257.1","mRNA,mRNA","mRNA,mRNA","+,+","NP_005384.2,NP_001156729.1","NP_005384.2,NP_001156729.1","5365,5365","9105,9105","300214,300214","CCDS14729.1,CCDS55536.1",",","plexin-B3 isoform 1 precursor,plexin-B3 isoform 2",",","True","A/C","rs868910379","Has SubmitterLinkOut,In 3' UTR,In 3' gene region,In 5' gene region,Is Assembly specific","147","SNV",{"$nulls":36},"False"]
["X:153044679","A/C",null,"FS60,QD2,SOR3","0.0641026","146,10",156,40,"0/1","PLXNB3","3_prime_UTR_variant","Other","NM_001163257.1","NM_001163257.1:c.*185A>C",null,"NM_005393.2,NM_001163257.1","36,37",",","PLXNB3,PLXNB3","NM_005393.2,NM_001163257.1","mRNA,mRNA","mRNA,mRNA","+,+","NP_005384.2,NP_001156729.1","NP_005384.2,NP_001156729.1","5365,5365","9105,9105","300214,300214","CCDS14729.1,CCDS55536.1",",","plexin-B3 isoform 1 precursor,plexin-B3 isoform 2",",","True","A/C","rs868990291","Has SubmitterLinkOut,In 3' UTR,In 3' gene region,In 5' gene region,Is Assembly specific","147","SNV",{"$nulls":36},"False"]
["X:153069545","C/T",null,"PASS","0.315789","13,6",19,99,"0/1","PDZD4","missense_variant","Missense","NM_001303512.1","NM_001303512.1:c.1591G>A","NP_001290441.1:p.Ala531Thr","NM_001303515.1,NM_001303516.1,NM_032512.3,NM_001303512.1,NM_001303513.1,NM_001303514.1","8,8,8,8,9,6","64.6043,64.2961,68.0519,68.299,63.5015,62.7837","PDZD4,PDZD4,PDZD4,PDZD4,PDZD4,PDZD4","NM_001303515.1,NM_001303516.1,NM_032512.3,NM_001303512.1,NM_001303513.1,NM_001303514.1","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","-,-,-,-,-,-","NP_001290444.1,NP_001290445.1,NP_115901.2,NP_001290441.1,NP_001290442.1,NP_001290443.1","NP_001290444.1,NP_001290445.1,NP_115901.2,NP_001290441.1,NP_001290442.1,NP_001290443.1","57595,57595,57595,57595,57595,57595","21167,21167,21167,21167,21167,21167","300634,300634,300634,300634,300634,300634",",,CCDS14732.1,CCDS78518.1,,CCDS78517.1",",,,,,","PDZ domain-containing protein 4 isoform 5,PDZ domain-containing protein 4 isoform 6,PDZ domain-containing protein 4 isoform 2,PDZ domain-containing protein 4 isoform 1,PDZ domain-containing protein 4 isoform 3,PDZ domain-containing protein 4 isoform 4",",,,,,","False",{"$nulls":41},"False"]
["X:153172959","T/A",null,"PASS","0.666667","2,4",6,51,"0/1","ARHGAP4","3_prime_UTR_variant","Other","NM_001164741.1","NM_001164741.1:c.*224A>T",null,"NM_001666.4,NM_001164741.1","22,23",",","ARHGAP4,ARHGAP4","NM_001666.4,NM_001164741.1","mRNA,mRNA","mRNA,mRNA","-,-","NP_001657.3,NP_001158213.1","NP_001657.3,NP_001158213.1","393,393","674,674","300023,300023","CCDS14736.1,CCDS55540.1",",","rho GTPase-activating protein 4 isoform 2,rho GTPase-activating protein 4 isoform 1",",","True","T/A","rs62620964","Has SubmitterLinkOut,In 3' UTR,In 3' gene region,Is Assembly specific,Is Validated,1000 Genome phase 1,1000 Genome phase 3","129","SNV","0.9857,0.0143","True","T/A","rs62620964",null,12525,"54","0.0143046",3775,30,24,"8","0.0152672",524,3,5,"2","0.00199402",1003,1,1,"2","0.00278552",718,1,1,"42","0.0548303",766,25,17,"0","0",764,0,0,"False"]
["X:153294081","C/T",null,"PASS","0.6875","5,11",16,99,"0/1","MECP2","3_prime_UTR_variant","Other","NM_004992.3","NM_004992.3:c.*1737G>A",null,"NM_004992.3","4",null,"MECP2","NM_004992.3","mRNA","mRNA","-","NP_004983.1","NP_004983.1","4204","6990","300005","CCDS14741.1","02050","methyl-CpG-binding protein 2 isoform 1",null,"True","C/T","rs3027922","Variant is Precious,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3,Submitted from a locus-specific database","102","SNV","0.9528,0.04715","True","C/T","rs3027922",null,13730,"178","0.0471523",3775,94,69,"16","0.0305344",524,9,7,"136","0.135593",1003,71,52,"2","0.00278552",718,1,1,"24","0.0313316",766,13,9,"0","0",764,0,0,"False",{"$nulls":36},"C/T","143253","Benign","Benign","Benign (1)","(0 Stars) No Assertion Criteria Provided","rs3027922","MECP2","4204","NC_000023.10:g.153294081C>T","NC_000023.11:g.154028630C>T","AJ132917.1:c.*1737G>A",null,"RCV000132777","not specified","Benign","(0 Stars) No Assertion Criteria Provided","2010-03-10"]
["X:153294940","G/C",null,"PASS","0.674699","27,56",83,99,"0/1","MECP2","3_prime_UTR_variant","Other","NM_004992.3","NM_004992.3:c.*878C>G",null,"NM_004992.3","4",null,"MECP2","NM_004992.3","mRNA","mRNA","-","NP_004983.1","NP_004983.1","4204","6990","300005","CCDS14741.1","02050","methyl-CpG-binding protein 2 isoform 1",null,"True","G/C","rs3027924","Variant is Precious,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3,Submitted from a locus-specific database","102","SNV","0.8509,0.1491","True","G/C","rs3027924",null,13961,"563","0.149139",3775,233,257,"40","0.0763359",524,23,16,"429","0.427717",1003,155,207,"25","0.0348189",718,14,11,"57","0.0744125",766,31,21,"12","0.0157068",764,10,2,"False",{"$nulls":36},"G/C","143292","Benign","Benign","Benign (1)","(0 Stars) No Assertion Criteria Provided","rs3027924","MECP2","4204","NC_000023.10:g.153294940G>C","NC_000023.11:g.154029489G>C","AJ132917.1:c.*878C>G",null,"RCV000132816","not specified","Benign","(0 Stars) No Assertion Criteria Provided","2010-03-10"]
["X:153420176","A/G",null,"PASS","0.29697","116,49",165,99,"0/1","OPN1LW","missense_variant","Missense","NM_020061.5","NM_020061.5:c.706A>G","NP_064445.2:p.Met236Val","NM_020061.5","4","64.3836","OPN1LW","NM_020061.5","mRNA","mRNA","+","NP_064445.2","NP_064445.2","5956","9936","300822","CCDS14742.1",null,"long-wave-sensitive opsin 1",null,"True","A/C/G/T","rs1065426","Has 3D structure,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1","123","SNV","0.8487,0.001589,0.1497,","True","A/G",null,"MULTI_ALLELIC,EX_TARGET",12001,"565","0.149629",3776,226,265,"39","0.0744275",524,18,17,"422","0.420738",1003,156,205,"29","0.04039",718,16,11,"62","0.0809399",766,28,28,"13","0.0169935",765,8,4,"False"]
["X:153455654","C/T",null,"MQ40","0.137931","25,4",29,32,"0/1","OPN1MW","missense_variant","Missense","NM_000513.2","NM_000513.2:c.521C>T","NP_000504.1:p.Ala174Val","NM_000513.2","3","47.4886","OPN1MW","NM_000513.2","mRNA","mRNA","+","NP_000504.1","NP_000504.1","2652","4206","300821","CCDS14743.1","02365","medium-wave-sensitive opsin 1",null,"True","C/T","rs372044027","Has 3D structure,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated","138","SNV",{"$nulls":36},"False"]
["X:153461774","T/A",null,"MQ40,QD2","0.175676","61,13",74,99,"0/1","OPN1MW","3_prime_UTR_variant","Other","NM_000513.2","NM_000513.2:c.*243T>A",null,"NM_000513.2","6",null,"OPN1MW","NM_000513.2","mRNA","mRNA","+","NP_000504.1","NP_000504.1","2652","4206","300821","CCDS14743.1","02365","medium-wave-sensitive opsin 1",null,"False",{"$nulls":41},"False"]
["X:153492772","C/T",null,"MQ40","0.24","19,6",25,99,"0/1","OPN1MW2","missense_variant","Missense","NM_001048181.2","NM_001048181.2:c.521C>T","NP_001041646.1:p.Ala174Val","NM_001048181.2","3","47.4886","OPN1MW2","NM_001048181.2","mRNA","mRNA","+","NP_001041646.1","NP_001041646.1","728458","26952",null,"CCDS35447.1",null,"medium-wave-sensitive opsin 1",null,"True","C/T","rs142076459","Has 3D structure,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,1000 Genome phase 3","134","SNV","0.4935,0.5065","True","C/T","rs142076459","EX_TARGET",14269,"1912","0.50649",3775,463,1036,"205","0.391221",524,68,96,"869","0.866401",1003,92,532,"379","0.527855",718,132,194,"183","0.238903",766,92,75,"276","0.361257",764,79,139,"False"]
["X:153492783","A/G",null,"MQ40","0.304348","16,7",23,99,"0/1","OPN1MW2","missense_variant","Missense","NM_001048181.2","NM_001048181.2:c.532A>G","NP_001041646.1:p.Ile178Val","NM_001048181.2","3","48.4931","OPN1MW2","NM_001048181.2","mRNA","mRNA","+","NP_001041646.1","NP_001041646.1","728458","26952",null,"CCDS35447.1",null,"medium-wave-sensitive opsin 1",null,"True","A/G","rs5742604","Has 3D structure,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,Is Assembly specific,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,1000 Genome phase 3","114","SNV","0.5295,0.4705","True","A/G","rs146189239","EX_TARGET",14444,"1776","0.470464",3775,556,908,"199","0.379771",524,74,90,"739","0.73679",1003,183,408,"375","0.522284",718,131,191,"187","0.244125",766,93,78,"276","0.361257",764,75,141,"False"]
["X:153558418","A/G",null,"PASS","0.666667","3,6",9,88,"0/1","TKTL1","3_prime_UTR_variant","Other","NM_012253.3","NM_012253.3:c.*380A>G",null,"NM_012253.3,NM_001145933.1,NM_001145934.1","13,13,12",",,","TKTL1,TKTL1,TKTL1","NM_012253.3,NM_001145933.1,NM_001145934.1","mRNA,mRNA,mRNA","mRNA,mRNA,mRNA","+,+,+","NP_036385.3,NP_001139405.1,NP_001139406.1","NP_036385.3,NP_001139405.1,NP_001139406.1","8277,8277,8277","11835,11835,11835","300044,300044,300044","CCDS35448.1,,CCDS55541.1",",,","transketolase-like protein 1 isoform a,transketolase-like protein 1 isoform b,transketolase-like protein 1 isoform c",",,","True","A/G","rs2872817","Variant is Precious,Links exist to PubMed,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","101","SNV","0.6914,0.3086","True","A/G","rs2872817",null,15732,"1165","0.308609",3775,491,537,"113","0.215649",524,59,45,"312","0.311067",1003,156,131,"398","0.554318",718,102,218,"126","0.164491",766,70,51,"216","0.282723",764,104,92,"False"]
["X:153577133","T/G",null,"PASS","0.255102","73,25",98,99,"0/1","FLNA","3_prime_UTR_variant","Other","NM_001456.3","NM_001456.3:c.*84A>C",null,"NM_001456.3,NM_001110556.1","47,48",",","FLNA,FLNA","NM_001456.3,NM_001110556.1","mRNA,mRNA","mRNA,mRNA","-,-","NP_001447.2,NP_001104026.1","NP_001447.2,NP_001104026.1","2316,2316","3754,3754","300017,300017","CCDS44021.1,CCDS48194.1",",","filamin-A isoform 1,filamin-A isoform 2",",","True","T/G","rs782243311","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,1000 Genome phase 3","144","SNV","0.8273,0.1727","True","T/G",null,null,6851,"652","0.172715",3775,336,264,"87","0.166031",524,45,34,"317","0.316052",1003,157,128,"134","0.18663",718,63,61,"64","0.0835509",766,40,24,"50","0.065445",764,31,17,"False"]
["X:153609616","G/C",null,"PASS","0.333333","20,10",30,99,"0/1","EMD","3_prime_UTR_variant","Other","NM_000117.2","NM_000117.2:c.*59G>C",null,"NM_000117.2","6",null,"EMD","NM_000117.2","mRNA","mRNA","+","NP_000108.1","NP_000108.1","2010","3331","300384","CCDS14745.1","02309","emerin","LRG_745t1","True","G/C","rs17426","Variant is Precious,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3,Submitted from a locus-specific database","60","SNV","0.7481,0.2519","True","G/C","rs17426",null,4708,"951","0.251921",3775,422,423,"110","0.209924",524,57,43,"150","0.149551",1003,92,52,"371","0.516713",718,103,199,"126","0.164491",766,69,52,"194","0.253927",764,101,77,"False"]
["X:153609617","C/T",null,"PASS","0.333333","20,10",30,99,"0/1","EMD","3_prime_UTR_variant","Other","NM_000117.2","NM_000117.2:c.*60C>T",null,"NM_000117.2","6",null,"EMD","NM_000117.2","mRNA","mRNA","+","NP_000108.1","NP_000108.1","2010","3331","300384","CCDS14745.1","02309","emerin","LRG_745t1","True","C/T","rs17427","Variant is Precious,Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,1000 Genome phase 1,1000 Genome phase 3,Submitted from a locus-specific database","60","SNV","0.7475,0.2525","True","C/T","rs17427",null,4662,"953","0.25245",3775,424,423,"110","0.209924",524,57,43,"152","0.151545",1003,94,52,"371","0.516713",718,103,199,"126","0.164491",766,69,52,"194","0.253927",764,101,77,"False"]
["X:153626649","A/C",null,"PASS","0.280702","41,16",57,99,"0/1","RPL10","5_prime_UTR_variant","Other","NM_001256577.2","NM_001256577.2:c.-110A>C",null,"NM_006013.4,NM_001256577.2,NM_001256580.2,NM_001303625.1","1,1,1,1",",,,","RPL10,RPL10,RPL10,RPL10","NM_006013.4,NM_001256577.2,NM_001256580.2,NM_001303625.1","mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA","+,+,+,+","NP_006004.3,NP_001243506.2,NP_001243509.2,NP_001290554.1","NP_006004.3,NP_001243506.2,NP_001243509.2,NP_001290554.1","6134,6134,6134,6134","10298,10298,10298,10298","312173,312173,312173,312173","CCDS14746.1,,CCDS76059.1,CCDS14746.1",",,,","60S ribosomal protein L10 isoform a,60S ribosomal protein L10 isoform b,60S ribosomal protein L10 isoform c,60S ribosomal protein L10 isoform a",",,,","True","A/C","rs915941","Has SubmitterLinkOut,In 5' UTR,In 5' gene region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","86","SNV","0.7531,0.2469","True","A/C","rs915941",null,11720,"932","0.246887",3775,352,444,"91","0.173664",524,48,36,"576","0.574277",1003,162,298,"135","0.188022",718,67,59,"63","0.0822454",766,36,26,"67","0.0876963",764,39,25,"False"]
["X:153626738","G/A",null,"PASS","0.37234","59,35",94,99,"0/1","RPL10","splice_region_variant","Other","NM_001256577.2","NM_001256577.2:c.-24+3G>A",null,"NM_006013.4,NM_001256577.2,NM_001256580.2,NM_001303625.1,NM_001303624.1","1,1,1,1,1",",,,,","RPL10,RPL10,RPL10,RPL10,RPL10","NM_006013.4,NM_001256577.2,NM_001256580.2,NM_001303625.1,NM_001303624.1","mRNA,mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA,mRNA","+,+,+,+,+","NP_006004.3,NP_001243506.2,NP_001243509.2,NP_001290554.1,NP_001290553.1","NP_006004.3,NP_001243506.2,NP_001243509.2,NP_001290554.1,NP_001290553.1","6134,6134,6134,6134,6134","10298,10298,10298,10298,10298","312173,312173,312173,312173,312173","CCDS14746.1,,CCDS76059.1,CCDS14746.1,CCDS14746.1",",,,,","60S ribosomal protein L10 isoform a,60S ribosomal protein L10 isoform b,60S ribosomal protein L10 isoform c,60S ribosomal protein L10 isoform a,60S ribosomal protein L10 isoform a",",,,,","True","G/A","rs915942","Variant is Precious,Links exist to PubMed,Has SubmitterLinkOut,In 5' UTR,In Intron,In 5' gene region,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","86","SNV","0.7974,0.2026","True","G/A","rs915942",null,13794,"765","0.202649",3775,355,339,"87","0.166031",524,45,35,"413","0.411765",1003,168,194,"135","0.188022",718,67,59,"63","0.0822454",766,36,26,"67","0.0876963",764,39,25,"False"]
["X:153629155","A/G",null,"PASS","0.687023","82,180",262,99,"0/1","RPL10","missense_variant","Missense","NM_001256577.2","NM_001256577.2:c.442A>G","NP_001243506.2:p.Ile148Val","NM_006013.4,NM_001256577.2,NM_001256580.2,NM_001303625.1,NM_001303624.1,NM_001303626.1","7,6,6,7,6,6","93.6434,67.7419,92.365,93.6434,93.6434,","RPL10,RPL10,RPL10,RPL10,RPL10,RPL10","NM_006013.4,NM_001256577.2,NM_001256580.2,NM_001303625.1,NM_001303624.1,NM_001303626.1","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA,mRNA,mRNA","+,+,+,+,+,+","NP_006004.3,NP_001243506.2,NP_001243509.2,NP_001290554.1,NP_001290553.1,NP_001290555.1","NP_006004.3,NP_001243506.2,NP_001243509.2,NP_001290554.1,NP_001290553.1,NP_001290555.1","6134,6134,6134,6134,6134,6134","10298,10298,10298,10298,10298,10298","312173,312173,312173,312173,312173,312173","CCDS14746.1,,CCDS76059.1,CCDS14746.1,CCDS14746.1,",",,,,,","60S ribosomal protein L10 isoform a,60S ribosomal protein L10 isoform b,60S ribosomal protein L10 isoform c,60S ribosomal protein L10 isoform a,60S ribosomal protein L10 isoform a,60S ribosomal protein L10 isoform d",",,,,,","True","A/G,A/G","rs12012747,rs4909","Variant is Precious,Has non-synonymous missense A coding region,Has reference A coding region,In 3' UTR,In 3' gene region,Has other variant with exactly the same set of mapped positions on NCBI refernce assembly,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available,Submitted from a locus-specific database,Has SubmitterLinkOut,Has non-synonymous missense A coding region,Has reference A coding region,In 3' UTR,In 3' gene region,Has other variant with exactly the same set of mapped positions on NCBI refernce assembly,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Genotypes available,1000 Genome phase 1,1000 Genome phase 3","126,52","SNV,SNV","0.3311,0.6689,0.3311,0.6689","True,True","A/G","rs12012747","EX_TARGET",15601,"2525","0.668874",3775,282,1536,"411","0.784351",524,62,244,"128","0.127617",1003,78,46,"587","0.817549",718,64,367,"702","0.916449",766,39,439,"697","0.912304",764,39,440,"False",{"$nulls":36},"A/G","95327","Benign","Benign","Benign (3)","(2 Stars) Criteria Provided, Multiple Submitters, No Conflicts","rs4909","RPL10","6134","NC_000023.10:g.153629155A>G","NC_000023.11:g.154400814G=","NM_001303626.1:c.*156G=",null,"RCV000081344,RCV000715271","not specified,History of neurodevelopmental disorder","Benign,Benign","(1 Stars) Criteria Provided, Single Submitter,(1 Stars) Criteria Provided, Single Submitter","2013-02-15,2015-06-22"]
["X:153633953","T/C",null,"PASS","0.738095","22,62",84,99,"0/1","DNASE1L1","5_prime_UTR_variant","Other","NM_006730.3","NM_006730.3:c.-44A>G",null,"NM_006730.3,NM_001303620.1,NM_001009934.2,NM_001009933.2,NM_001009932.2","2,2,2,3,4",",,,,","DNASE1L1,DNASE1L1,DNASE1L1,DNASE1L1,DNASE1L1","NM_006730.3,NM_001303620.1,NM_001009934.2,NM_001009933.2,NM_001009932.2","mRNA,mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA,mRNA","-,-,-,-,-","NP_006721.1,NP_001290549.1,NP_001009934.1,NP_001009933.1,NP_001009932.1","NP_006721.1,NP_001290549.1,NP_001009934.1,NP_001009933.1,NP_001009932.1","1774,1774,1774,1774,1774","2957,2957,2957,2957,2957","300081,300081,300081,300081,300081","CCDS14747.1,CCDS14747.1,CCDS14747.1,CCDS14747.1,CCDS14747.1","02096,02096,02096,02096,02096","deoxyribonuclease-1-like 1 precursor,deoxyribonuclease-1-like 1 precursor,deoxyribonuclease-1-like 1 precursor,deoxyribonuclease-1-like 1 precursor,deoxyribonuclease-1-like 1 precursor",",,,,","True","T/C","rs1050094","RS orientation is reversed,Has SubmitterLinkOut,In 5' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","86","SNV","0.1314,0.8686","True","T/C","rs1050094","EX_TARGET",12500,"3279","0.868609",3775,268,2038,"447","0.853053",524,40,277,"844","0.841476",1003,89,512,"585","0.814763",718,65,365,"705","0.920366",766,35,443,"698","0.913613",764,39,441,"False"]
["X:153637305","T/C",null,"PASS","0.657895","26,50",76,99,"0/1","DNASE1L1","5_prime_UTR_variant","Other","NM_006730.3","NM_006730.3:c.-499A>G",null,"NM_006730.3,NM_001303620.1,NM_001009934.2,NM_001009933.2,NM_001009932.2","1,1,1,2,3",",,,,","DNASE1L1,DNASE1L1,DNASE1L1,DNASE1L1,DNASE1L1","NM_006730.3,NM_001303620.1,NM_001009934.2,NM_001009933.2,NM_001009932.2","mRNA,mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA,mRNA","-,-,-,-,-","NP_006721.1,NP_001290549.1,NP_001009934.1,NP_001009933.1,NP_001009932.1","NP_006721.1,NP_001290549.1,NP_001009934.1,NP_001009933.1,NP_001009932.1","1774,1774,1774,1774,1774","2957,2957,2957,2957,2957","300081,300081,300081,300081,300081","CCDS14747.1,CCDS14747.1,CCDS14747.1,CCDS14747.1,CCDS14747.1","02096,02096,02096,02096,02096","deoxyribonuclease-1-like 1 precursor,deoxyribonuclease-1-like 1 precursor,deoxyribonuclease-1-like 1 precursor,deoxyribonuclease-1-like 1 precursor,deoxyribonuclease-1-like 1 precursor",",,,,","True","T/C","rs2070807","RS orientation is reversed,Variant is Precious,Links exist to PubMed,Has SubmitterLinkOut,In 5' UTR,In Intron,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","96","SNV","0.3036,0.6964","True","T/C","rs2070807",null,13181,"2629","0.696424",3775,323,1590,"415","0.791985",524,60,248,"225","0.224327",1003,124,92,"588","0.818942",718,64,368,"703","0.917755",766,36,441,"698","0.913613",764,39,441,"False"]
["X:153649813","G/C",null,"PASS","0.694915","54,123",177,99,"0/1","TAZ","3_prime_UTR_variant","Other","NM_000116.4","NM_000116.4:c.*470G>C",null,"NM_001303465.1,NM_181311.3,NM_181312.3,NM_000116.4,NM_181313.3","10,10,10,11,9",",,,,","TAZ,TAZ,TAZ,TAZ,TAZ","NM_001303465.1,NM_181311.3,NM_181312.3,NM_000116.4,NM_181313.3","mRNA,mRNA,mRNA,mRNA,mRNA","mRNA,mRNA,mRNA,mRNA,mRNA","+,+,+,+,+","NP_001290394.1,NP_851828.1,NP_851829.1,NP_000107.1,NP_851830.1","NP_001290394.1,NP_851828.1,NP_851829.1,NP_000107.1,NP_851830.1","6901,6901,6901,6901,6901","11577,11577,11577,11577,11577","300394,300394,300394,300394,300394",",CCDS14749.1,CCDS14750.1,CCDS14748.1,CCDS35450.1","02316,02316,02316,02316,02316","tafazzin isoform 5,tafazzin isoform 2,tafazzin isoform 3,tafazzin isoform 1,tafazzin isoform 4",",,,,","True","G/A/C/T","rs743547","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1","86","SNV",{"$nulls":36},"False",{"$nulls":36},"G/C","368091","Benign","Benign","Benign (4)","(1 Stars) Criteria Provided, Single Submitter","rs743547","TAZ","6901","NC_000023.10:g.153649813G>C","NC_000023.11:g.154421474C=","NM_000116.4:c.*470C=",null,"RCV000298181,RCV000301850,RCV000360069,RCV000395030","3-Methylglutaconic aciduria type 2,Dilated cardiomyopathy 3B,Left ventricular noncompaction cardiomyopathy,Endocardial fibroelastosis","Benign,Benign,Benign,Benign","(1 Stars) Criteria Provided, Single Submitter,(1 Stars) Criteria Provided, Single Submitter,(1 Stars) Criteria Provided, Single Submitter,(1 Stars) Criteria Provided, Single Submitter","2016-06-14,2016-06-14,2016-06-14,2016-06-14"]
["X:154507173","T/G",null,"PASS","0.709091","32,78",110,99,"0/1","CLIC2","3_prime_UTR_variant","Other","NM_001289.5","NM_001289.5:c.*19A>C",null,"NM_001289.5","6",null,"CLIC2","NM_001289.5","mRNA","mRNA","-","NP_001280.3","NP_001280.3","1193","2063","300138","CCDS14767.1",null,"chloride intracellular channel protein 2",null,"True","T/G","rs559165","Has SubmitterLinkOut,In 3' UTR,Is Assembly specific,Is Validated,5% minor allele frequency in each and all populations,5% minor allele frequency in 1+ populations,Marker on high density genotype kit (50K+),Genotypes available,1000 Genome phase 1,1000 Genome phase 3","83","SNV","0.6458,0.3542","True","T/G","rs559165","EX_TARGET",14390,"1337","0.354172",3775,490,663,"186","0.354962",524,77,89,"591","0.589232",1003,164,316,"203","0.28273",718,85,101,"149","0.194517",766,70,66,"208","0.272251",764,94,91,"True","UW_VH_24038","Loss","<CN0>","DEL_union",null,"15136","8","0.00211921","3775","8","0","1","0.0019084","524","1","0","3","0.00299103","1003","3","0","0","0","718","0","0","4","0.00522193","766","4","0","0","0","764","0","0","T/G","93695","Benign","Benign","Benign (1)","(1 Stars) Criteria Provided, Single Submitter","rs559165","CLIC2","1193","NC_000023.10:g.154507173T>G","NC_000023.11:g.155277884G=","NM_001289.5:c.*19C=",null,"RCV000079627","not specified","Benign","(1 Stars) Criteria Provided, Single Submitter","2013-09-04"]