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{"sheet":"Overview","index":0,"n_rows":12,"n_cols":1,"rows_kept":12,"flags":["formulas_cached_only"]}
["gnomAD data for start loss and Loss-of-function (LoF) variants of the 247 essential genes"]
{"$rows_empty":7}
["Genes indicated in red do not have start loss (tab 1) or LoF variants (tab 2) in the gnomAD data set"]
[]
[]
["gnomAD v2.1.1 (25-09-2019)"]

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["Gene_name","Gene_ID","Chromosome","Position","rsID","Reference","Alternate","Source","Filters_exomes","Filters_genomes","Consequence_Protein","Consequence_Transcript","Consequence","Annotation","Flags","Allele_Count","Allele_Number","Allele_Frequency","Homozygote_Count","Hemizygote_Count","Allele_Count_African","Allele_Number_African","Homozygote_Count_African","Hemizygote_Count_African","Allele_Count_Latino","Allele_Number_Latino","Homozygote_Count_Latino","Hemizygote_Count_Latino","Allele_Count_Ashkenazi_Jewish","Allele_Number_Ashkenazi_Jewish","Homozygote_Count_Ashkenazi_Jewish","Hemizygote_Count_Ashkenazi_Jewish","Allele_Count_East_Asian","Allele_Number_East_Asian","Homozygote_Count_East_Asian","Hemizygote_Count_East_Asian","Allele_Count_European__Finnish_","Allele_Number_European__Finnish_","Homozygote_Count_European__Finnish_","Hemizygote_Count_European__Finnish_","Allele_Count_European__non_Finnish_","Allele_Number_European__non_Finnish_","Homozygote_Count_European__non_Finnish_","Hemizygote_Count_European__non_Finnish_","Allele_Count_Other","Allele_Number_Other","Homozygote_Count_Other","Hemizygote_Count_Other","Allele_Count_South_Asian","Allele_Number_South_Asian","Homozygote_Count_South_Asian","Hemizygote_Count_South_Asian"]
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["ACOT2","ENSG00000119673",14,74035945,"rs1159417365","A","G","gnomAD_Exomes","PASS","NA","p.Met1?","p.Met1?","c.1A>G","start_lost","segdup",1,251166,3.98143060764594e-06,0,0,0,16254,0,0,0,34560,0,0,0,10058,0,0,0,18394,0,0,0,21628,0,0,0,113552,0,0,0,6122,0,0,1,30598,0,0]
["ADAD1","ENSG00000164113",4,123301226,"rs1295311953","T","C","gnomAD_Exomes","PASS","NA","p.Met1?","p.Met1?","c.2T>C","start_lost",null,1,246852,4.0510103219743e-06,0,0,0,16192,0,0,0,33654,0,0,0,9678,0,0,1,18224,0,0,0,21490,0,0,0,111992,0,0,0,6010,0,0,0,29612,0,0]
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["ADAT2","ENSG00000189007",6,143759785,"rs745702876","A","G","gnomAD_Exomes","PASS","NA","p.Met1?","p.Met1?","c.2T>C","start_lost",null,2,249360,8.02053256336221e-06,0,0,0,15476,0,0,0,34492,0,0,0,10070,0,0,0,17976,0,0,0,21560,0,0,2,113142,0,0,0,6054,0,0,0,30590,0,0]
["ADAT2","ENSG00000189007",6,143771795,"rs1323430882","T","C","gnomAD_Exomes","PASS","NA","p.Met1?","p.Met1?","c.1A>G","start_lost",null,2,247646,8.076044030592049e-06,0,0,0,15206,0,0,0,34514,0,0,1,10028,0,0,0,17960,0,0,1,20904,0,0,0,112408,0,0,0,6032,0,0,0,30594,0,0]
["ADAT2","ENSG00000189007",6,143759786,"rs771890498","T","C","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Met1?","p.Met1?","c.1A>G","start_lost",null,2,280760,7.1235218692121395e-06,0,0,2,24192,0,0,0,35344,0,0,0,10358,0,0,0,19536,0,0,0,25034,0,0,0,128568,0,0,0,7140,0,0,0,30588,0,0]
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["AHCTF1","ENSG00000153207",1,247094528,"rs1196291045","T","C","gnomAD_Exomes","PASS","NA","p.Met1?","p.Met1?","c.1A>G","start_lost",null,1,146842,6.81004072404353e-06,0,0,0,6822,0,0,1,24350,0,0,0,8344,0,0,0,10738,0,0,0,15608,0,0,0,54190,0,0,0,4234,0,0,0,22556,0,0]
["AHCTF1","ENSG00000153207",1,247094628,"rs1450649740","A","G","gnomAD_Exomes","PASS","NA","p.Met1?","p.Met1?","c.2T>C","start_lost","segdup",1,140572,7.113792220356829e-06,0,0,0,6462,0,0,0,24250,0,0,0,8102,0,0,0,10442,0,0,0,14650,0,0,1,50212,0,0,0,4094,0,0,0,22360,0,0]
["AHCYL1","ENSG00000168710","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA"]
["AKAP4","ENSG00000147081","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA"]
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["ALG1L","ENSG00000189366",3,125652517,"rs767940254","T","C","gnomAD_Exomes","PASS","NA","p.Met1?","p.Met1?","c.1A>G","start_lost","segdup",13,250168,5.19650794665984e-05,0,0,0,16118,0,0,1,34528,0,0,0,10044,0,0,0,18368,0,0,0,21612,0,0,1,112812,0,0,1,6102,0,0,10,30584,0,0]
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["BAZ2A","ENSG00000076108",12,57029969,"rs201499595","T","A","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Met1?","p.Met1?","c.1A>T","start_lost",null,149,250496,0.0005948198773630001,1,0,5,21372,0,0,11,32310,0,0,0,9666,0,0,0,17546,0,0,3,23382,0,0,120,112842,1,0,3,6548,0,0,7,26830,0,0]
["BAZ2A","ENSG00000076108",12,57029968,"rs754330046","A","T","gnomAD_Exomes","PASS","NA","p.Met1?","p.Met1?","c.2T>A","start_lost",null,2,219290,9.120342924893979e-06,0,0,0,12676,0,0,0,31494,0,0,0,9388,0,0,0,15954,0,0,0,19924,0,0,2,97564,0,0,0,5460,0,0,0,26830,0,0]
["BAZ2A","ENSG00000076108",12,57029969,"rs201499595","T","C","gnomAD_Exomes","PASS","NA","p.Met1?","p.Met1?","c.1A>G","start_lost",null,1,219098,4.56416763274882e-06,0,0,0,12658,0,0,0,31462,0,0,0,9376,0,0,0,15988,0,0,0,19906,0,0,1,97416,0,0,0,5462,0,0,0,26830,0,0]
["BCAS4","ENSG00000124243",20,49411532,"rs1479577930","T","C","gnomAD_Exomes","PASS","NA","p.Met1?","p.Met1?","c.2T>C","start_lost",null,2,21838,9.158347834050742e-05,0,0,0,374,0,0,2,3738,0,0,0,1306,0,0,0,370,0,0,0,1740,0,0,0,8018,0,0,0,596,0,0,0,5696,0,0]
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["FANK1","ENSG00000203780",10,127668737,"rs776311911","G","T","gnomAD_Exomes","PASS","NA","p.Met1?","p.Met1?","c.3G>T","start_lost",null,1,243062,4.114176629831069e-06,0,0,0,16130,0,0,1,32420,0,0,0,9538,0,0,0,17938,0,0,0,21506,0,0,0,111386,0,0,0,5938,0,0,0,28206,0,0]
["FBXL7","ENSG00000183580",5,15500786,"rs1223142226","A","T","gnomAD_Exomes","PASS","NA","p.Met1?","p.Met1?","c.1A>T","start_lost",null,1,244566,4.0888758044863196e-06,0,0,1,15220,0,0,0,34190,0,0,0,9972,0,0,0,17606,0,0,0,21528,0,0,0,109570,0,0,0,5956,0,0,0,30524,0,0]
["FBXL7","ENSG00000183580",5,15500787,"rs773672898","T","C","gnomAD_Exomes","PASS","NA","p.Met1?","p.Met1?","c.2T>C","start_lost",null,1,244508,4.08984573101903e-06,0,0,0,15180,0,0,0,34182,0,0,0,9986,0,0,0,17600,0,0,0,21524,0,0,1,109550,0,0,0,5956,0,0,0,30530,0,0]
["FBXL7","ENSG00000183580",5,15928013,"rs749091321","A","G","gnomAD_Exomes","PASS","NA","p.Met1?","p.Met1?","c.1A>G","start_lost",null,1,182650,5.47495209416918e-06,0,0,0,14776,0,0,0,23262,0,0,0,3842,0,0,1,16076,0,0,0,17164,0,0,0,87596,0,0,0,4162,0,0,0,15772,0,0]
["FBXO5","ENSG00000112029",6,153304093,"rs947137442","A","G","gnomAD_Genomes","NA","PASS","p.Met1?","p.Met1?","c.2T>C","start_lost",null,1,31368,3.1879622545269104e-05,0,0,1,8702,0,0,0,848,0,0,0,290,0,0,0,1560,0,0,0,3476,0,0,0,15404,0,0,0,1088,0,0,0,0,0,0]
["FBXO5","ENSG00000112029",6,153304094,"rs1041443268","T","C","gnomAD_Genomes","NA","PASS","p.Met1?","p.Met1?","c.1A>G","start_lost",null,1,31366,3.18816552955429e-05,0,0,0,8702,0,0,0,848,0,0,0,290,0,0,0,1560,0,0,0,3474,0,0,1,15406,0,0,0,1086,0,0,0,0,0,0]
["FBXO5","ENSG00000112029",6,153296721,"rs1233873864","T","C","gnomAD_Exomes","PASS","NA","p.Met1?","p.Met1?","c.1A>G","start_lost",null,1,242118,4.1302174972534095e-06,0,0,1,15572,0,0,0,32948,0,0,0,9606,0,0,0,18026,0,0,0,20384,0,0,0,110994,0,0,0,5868,0,0,0,28720,0,0]
["FBXO9","ENSG00000112146",6,52935824,"rs373570237","G","T","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Met1?","p.Met1?","c.3G>T","start_lost",null,3,198762,1.5093428321308903e-05,0,0,2,18158,0,0,1,26182,0,0,0,8952,0,0,0,13592,0,0,0,20810,0,0,0,82184,0,0,0,5758,0,0,0,23126,0,0]
["FBXO9","ENSG00000112146",6,52938293,"rs766065276","G","A","gnomAD_Exomes","PASS","NA","p.Met1?","p.Met1?","c.3G>A","start_lost",null,1,248956,4.01677404842623e-06,0,0,0,15480,0,0,0,34466,0,0,0,10054,0,0,0,17974,0,0,0,21534,0,0,1,112840,0,0,0,6046,0,0,0,30562,0,0]
["FCF1","ENSG00000119616",14,75179901,"rs185271026","A","G","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Met1?","p.Met1?","c.1A>G","start_lost","segdup",16,282880,5.65610859728507e-05,0,0,2,24964,0,0,2,35440,0,0,0,10370,0,0,0,19952,0,0,0,25124,0,0,11,129192,0,0,1,7222,0,0,0,30616,0,0]
["FCF1","ENSG00000119616",14,75182778,"rs150265446","A","G","gnomAD_Exomes","PASS","NA","p.Met1?","p.Met1?","c.1A>G","start_lost","segdup",2,251300,7.95861520095503e-06,0,0,0,16250,0,0,0,34586,0,0,0,10078,0,0,0,18392,0,0,0,21646,0,0,1,113614,0,0,0,6124,0,0,1,30610,0,0]
["FCF1","ENSG00000119616",14,75180221,"rs753166070","A","G","gnomAD_Exomes","PASS","NA","p.Met1?","p.Met1?","c.1A>G","start_lost","segdup",1,251348,3.97854767095819e-06,0,0,0,16254,0,0,0,34574,0,0,0,10080,0,0,1,18386,0,0,0,21646,0,0,0,113664,0,0,0,6134,0,0,0,30610,0,0]
["FOXA2","ENSG00000125798",20,22564916,"rs770545932","T","A","gnomAD_Exomes","PASS","NA","p.Met1?","p.Met1?","c.1A>T","start_lost",null,4,249234,1.60491746711925e-05,0,0,0,15892,0,0,0,34454,0,0,0,10014,0,0,0,18290,0,0,0,21498,0,0,0,112444,0,0,0,6060,0,0,4,30582,0,0]
["FOXA2","ENSG00000125798",20,22564915,"rs746665789","A","C","gnomAD_Exomes","PASS","NA","p.Met1?","p.Met1?","c.2T>G","start_lost",null,2,249292,8.02272034401425e-06,0,0,0,15894,0,0,0,34456,0,0,0,10014,0,0,0,18294,0,0,0,21508,0,0,2,112478,0,0,0,6062,0,0,0,30586,0,0]
["FOXA2","ENSG00000125798",20,22564898,"rs1172799396","T","C","gnomAD_Exomes","PASS","NA","p.Met1?","p.Met1?","c.1A>G","start_lost",null,1,250820,3.98692289291125e-06,0,0,0,16184,0,0,1,34562,0,0,0,10050,0,0,0,18366,0,0,0,21626,0,0,0,113290,0,0,0,6128,0,0,0,30614,0,0]
["FUOM","ENSG00000148803",10,135171511,"rs778776333","T","C","gnomAD_Exomes","PASS","NA","p.Met1?","p.Met1?","c.1A>G","start_lost",null,11,96536,0.00011394712853200001,0,0,0,1632,0,0,0,19460,0,0,0,6710,0,0,0,5386,0,0,0,6750,0,0,0,34822,0,0,0,2916,0,0,11,18860,0,0]
["FUOM","ENSG00000148803",10,135171511,"rs778776333","T","G","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Met1?","p.Met1?","c.1A>C","start_lost",null,7,127584,5.48658138951593e-05,0,0,0,10260,0,0,0,20292,0,0,0,6996,0,0,0,6938,0,0,0,10138,0,0,0,50112,0,0,1,3988,0,0,6,18860,0,0]
["FUOM","ENSG00000148803",10,135171510,"rs1230401672","A","G","gnomAD_Exomes","PASS","NA","p.Met1?","p.Met1?","c.2T>C","start_lost",null,6,98374,6.099172545591311e-05,0,0,0,1686,0,0,0,20024,0,0,0,6778,0,0,0,5564,0,0,0,6866,0,0,3,35408,0,0,0,2976,0,0,3,19072,0,0]
["FUOM","ENSG00000148803",10,135171448,"rs1294063963","T","A","gnomAD_Exomes","PASS","NA","p.Met1?","p.Met1?","c.1A>T","start_lost",null,1,119188,8.39010638654898e-06,0,0,1,3238,0,0,0,23356,0,0,0,7346,0,0,0,8134,0,0,0,9692,0,0,0,42522,0,0,0,3588,0,0,0,21312,0,0]
["FUOM","ENSG00000148803",10,135171448,"rs1294063963","T","G","gnomAD_Exomes","PASS","NA","p.Met1?","p.Met1?","c.1A>C","start_lost",null,1,119188,8.39010638654898e-06,0,0,0,3238,0,0,0,23356,0,0,0,7346,0,0,0,8134,0,0,1,9692,0,0,0,42522,0,0,0,3588,0,0,0,21312,0,0]
["FUOM","ENSG00000148803",10,135171510,"rs1230401672","A","T","gnomAD_Exomes","PASS","NA","p.Met1?","p.Met1?","c.2T>A","start_lost",null,1,98374,1.0165287575985501e-05,0,0,0,1686,0,0,0,20024,0,0,0,6778,0,0,0,5564,0,0,0,6866,0,0,1,35408,0,0,0,2976,0,0,0,19072,0,0]
["G2E3","ENSG00000092140",14,31029963,"rs1245978271","A","G","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Met1?","p.Met1?","c.1A>G","start_lost",null,2,159006,1.25781417053445e-05,0,0,0,14774,0,0,0,25074,0,0,1,8374,0,0,0,11976,0,0,1,8830,0,0,0,62606,0,0,0,5060,0,0,0,22312,0,0]
["G2E3","ENSG00000092140",14,31029965,"rs1448580188","G","C","gnomAD_Exomes","PASS","NA","p.Met1?","p.Met1?","c.3G>C","start_lost",null,1,127636,7.83478015606882e-06,0,0,0,6070,0,0,0,24240,0,0,0,8084,0,0,0,10420,0,0,0,5358,0,0,1,47172,0,0,0,3978,0,0,0,22314,0,0]
["GAB2","ENSG00000033327",11,77991906,"rs376433189","C","A","gnomAD_Exomes","PASS","NA","p.Met1?","p.Met1?","c.3G>T","start_lost",null,1,251168,3.98139890431902e-06,0,0,0,16252,0,0,0,34572,0,0,0,10066,0,0,0,18384,0,0,0,21632,0,0,1,113522,0,0,0,6126,0,0,0,30614,0,0]
["GAB2","ENSG00000033327",11,77991906,"rs376433189","C","G","gnomAD_Exomes","PASS","NA","p.Met1?","p.Met1?","c.3G>C","start_lost",null,1,251168,3.98139890431902e-06,0,0,0,16252,0,0,1,34572,0,0,0,10066,0,0,0,18384,0,0,0,21632,0,0,0,113522,0,0,0,6126,0,0,0,30614,0,0]
["GAPDH","ENSG00000111640",12,6645975,"rs749094736","G","A","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Met1?","p.Met1?","c.3G>A","start_lost","segdup",19,282870,6.716866405062401e-05,0,0,0,24962,0,0,7,35432,0,0,0,10370,0,0,0,19954,0,0,1,25120,0,0,11,129190,0,0,0,7226,0,0,0,30616,0,0]
["GAPDH","ENSG00000111640",12,6644000,"rs147280944","T","C","gnomAD_Exomes","PASS","NA","p.Met1?","p.Met1?","c.2T>C","start_lost","segdup",1,249160,4.0134853106437595e-06,0,0,1,16114,0,0,0,34542,0,0,0,10020,0,0,0,18338,0,0,0,21632,0,0,0,111808,0,0,0,6102,0,0,0,30604,0,0]
["GNL3","ENSG00000163938",3,52720808,"rs778892712","A","G","gnomAD_Exomes","PASS","NA","p.Met1?","p.Met1?","c.1A>G","start_lost",null,2,251396,7.95557606326274e-06,0,0,2,16254,0,0,0,34582,0,0,0,10078,0,0,0,18394,0,0,0,21646,0,0,0,113698,0,0,0,6134,0,0,0,30610,0,0]
["GNL3","ENSG00000163938",3,52720810,"rs1446620163","G","C","gnomAD_Exomes","PASS","NA","p.Met1?","p.Met1?","c.3G>C","start_lost",null,1,251364,3.97829442561385e-06,0,0,1,16252,0,0,0,34582,0,0,0,10078,0,0,0,18394,0,0,0,21626,0,0,0,113690,0,0,0,6134,0,0,0,30608,0,0]
["GNLY","ENSG00000115523",2,85921543,"rs774708449","T","C","gnomAD_Exomes","PASS","NA","p.Met1?","p.Met1?","c.2T>C","start_lost",null,1,250792,3.9873680181186e-06,0,0,0,16152,0,0,0,34540,0,0,0,10048,0,0,0,18378,0,0,0,21624,0,0,1,113316,0,0,0,6122,0,0,0,30612,0,0]
["GPR6","ENSG00000146360",6,110299980,"rs984341393","T","C","gnomAD_Exomes","PASS","NA","p.Met1?","p.Met1?","c.2T>C","start_lost",null,2,128580,1.55545185876497e-05,0,0,0,6094,0,0,2,24358,0,0,0,8098,0,0,0,10438,0,0,0,5390,0,0,0,47810,0,0,0,4008,0,0,0,22384,0,0]
["GPR89A","ENSG00000117262",1,145818793,"rs782733283","T","A","gnomAD_Exomes","PASS","NA","p.Met1?","p.Met1?","c.1A>T","start_lost","segdup",2,250538,7.982820969274119e-06,0,0,0,16154,0,0,0,34338,0,0,0,10060,0,0,2,18356,0,0,0,21634,0,0,0,113438,0,0,0,6106,0,0,0,30452,0,0]
["GPR89A","ENSG00000117262",1,145818792,null,"A","C","gnomAD_Exomes","PASS","NA","p.Met1?","p.Met1?","c.2T>G","start_lost","segdup",1,250538,3.991410484637059e-06,0,0,0,16146,0,0,0,34344,0,0,0,10060,0,0,1,18358,0,0,0,21636,0,0,0,113442,0,0,0,6106,0,0,0,30446,0,0]
["GPR89A","ENSG00000117262",1,145826927,null,"C","T","gnomAD_Exomes","PASS","NA","p.Met1?","p.Met1?","c.3G>A","start_lost","segdup",1,250956,3.98476226908303e-06,0,0,0,16130,0,0,0,34586,0,0,0,10076,0,0,0,18390,0,0,0,21636,0,0,1,113392,0,0,0,6130,0,0,0,30616,0,0]
["GRIA2","ENSG00000120251",4,158224858,"rs201193559","G","A","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Met1?","p.Met1?","c.3G>A","start_lost",null,65,282586,0.00023001847225300002,0,0,0,24968,0,0,0,35436,0,0,0,10362,0,0,0,19946,0,0,50,25122,0,0,12,128920,0,0,3,7218,0,0,0,30614,0,0]
["GRIA2","ENSG00000120251",4,158142874,"rs866122046","G","A","gnomAD_Exomes","PASS","NA","p.Met1?","p.Met1?","c.3G>A","start_lost",null,1,251488,3.97633286677694e-06,0,0,0,16256,0,0,0,34590,0,0,0,10080,0,0,0,18394,0,0,0,21648,0,0,0,113764,0,0,0,6140,0,0,1,30616,0,0]
["GTF2A1","ENSG00000165417",14,81682770,"rs200289434","A","T","gnomAD_Exomes","PASS","NA","p.Met1?","p.Met1?","c.2T>A","start_lost",null,1,247242,4.0446202506046695e-06,0,0,1,16080,0,0,0,33686,0,0,0,9930,0,0,0,18234,0,0,0,21604,0,0,0,112396,0,0,0,6032,0,0,0,29280,0,0]
["GZMM","ENSG00000197540",19,544073,"rs1163215981","T","C","gnomAD_Exomes","PASS","NA","p.Met1?","p.Met1?","c.2T>C","start_lost",null,4,152144,2.6290882322010705e-05,0,0,0,8446,0,0,0,24722,0,0,0,8434,0,0,0,11294,0,0,0,15202,0,0,0,56894,0,0,0,4366,0,0,4,22786,0,0]
["GZMM","ENSG00000197540",19,544072,"rs917411291","A","G","gnomAD_Genomes","NA","PASS","p.Met1?","p.Met1?","c.1A>G","start_lost",null,2,31288,6.39222705190488e-05,0,0,2,8666,0,0,0,848,0,0,0,290,0,0,0,1560,0,0,0,3466,0,0,0,15370,0,0,0,1088,0,0,0,0,0,0]
["GZMM","ENSG00000197540",19,544074,"rs1414728137","G","A","gnomAD_Exomes","PASS","NA","p.Met1?","p.Met1?","c.3G>A","start_lost",null,1,152212,6.569784248285289e-06,0,0,1,8456,0,0,0,24724,0,0,0,8438,0,0,0,11294,0,0,0,15210,0,0,0,56940,0,0,0,4364,0,0,0,22786,0,0]
["HAO2","ENSG00000116882",1,119923317,"rs377669802","T","C","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Met1?","p.Met1?","c.2T>C","start_lost",null,201,274708,0.000731686008416,0,0,180,22986,0,0,12,35178,0,0,0,10202,0,0,0,19368,0,0,0,25000,0,0,8,124578,0,0,0,7064,0,0,1,30332,0,0]
["HAO2","ENSG00000116882",1,119923709,"rs372891709","A","G","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Met1?","p.Met1?","c.1A>G","start_lost",null,7,282324,2.4794208072994103e-05,0,0,0,24962,0,0,1,35418,0,0,0,10352,0,0,0,19946,0,0,0,25108,0,0,6,128736,0,0,0,7204,0,0,0,30598,0,0]
["HAO2","ENSG00000116882",1,119923709,"rs372891709","A","C","gnomAD_Exomes","PASS","NA","p.Met1?","p.Met1?","c.1A>C","start_lost",null,1,250928,3.985206911942869e-06,0,0,0,16250,0,0,0,34570,0,0,0,10062,0,0,0,18390,0,0,0,21632,0,0,0,113310,0,0,0,6116,0,0,1,30598,0,0]
["HCFC1R1","ENSG00000103145",16,3073942,"rs751148989","T","C","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Met1?","p.Met1?","c.1A>G","start_lost",null,3,184826,1.6231482583619202e-05,0,0,2,17372,0,0,0,25712,0,0,0,8546,0,0,0,13686,0,0,0,15176,0,0,1,75858,0,0,0,5348,0,0,0,23128,0,0]
["HCFC1R1","ENSG00000103145",16,3073940,"rs1340937695","C","T","gnomAD_Exomes","PASS","NA","p.Met1?","p.Met1?","c.3G>A","start_lost",null,1,154776,6.46095001809066e-06,0,0,0,8764,0,0,0,24970,0,0,0,8266,0,0,0,12236,0,0,1,11770,0,0,0,61224,0,0,0,4310,0,0,0,23236,0,0]
["HTATIP2","ENSG00000109854",11,20385785,"rs1257119002","T","G","gnomAD_Genomes","NA","PASS","p.Met1?","p.Met1?","c.2T>G","start_lost",null,1,31398,3.18491623670297e-05,0,0,1,8714,0,0,0,848,0,0,0,290,0,0,0,1560,0,0,0,3474,0,0,0,15426,0,0,0,1086,0,0,0,0,0,0]
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["Gene_name","Gene_ID","Chromosome","Position","rsID","Reference","Alternate","Source","Filters_exomes","Filters_genomes","Consequence_Protein","Consequence_Transcript","Consequence","Annotation","Flags","Allele_Count","Allele_Number","Allele_Frequency","Homozygote_Count","Hemizygote_Count","Allele_Count_African","Allele_Number_African","Homozygote_Count_African","Hemizygote_Count_African","Allele_Count_Latino","Allele_Number_Latino","Homozygote_Count_Latino","Hemizygote_Count_Latino","Allele_Count_Ashkenazi_Jewish","Allele_Number_Ashkenazi_Jewish","Homozygote_Count_Ashkenazi_Jewish","Hemizygote_Count_Ashkenazi_Jewish","Allele_Count_East_Asian","Allele_Number_East_Asian","Homozygote_Count_East_Asian","Hemizygote_Count_East_Asian","Allele_Count_European__Finnish_","Allele_Number_European__Finnish_","Homozygote_Count_European__Finnish_","Hemizygote_Count_European__Finnish_","Allele_Count_European__non_Finnish_","Allele_Number_European__non_Finnish_","Homozygote_Count_European__non_Finnish_","Hemizygote_Count_European__non_Finnish_","Allele_Count_Other","Allele_Number_Other","Homozygote_Count_Other","Hemizygote_Count_Other","Allele_Count_South_Asian","Allele_Number_South_Asian","Homozygote_Count_South_Asian","Hemizygote_Count_South_Asian"]
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["ACOT2","ENSG00000119673",14,74042152,"rs748658805","C","T","gnomAD_Exomes","PASS","NA","p.Gln463Ter","p.Gln463Ter","c.1387C>T","stop_gained","segdup,lc_lof",2,184450,1.08430468961778e-05,0,0,0,13528,0,0,2,21890,0,0,0,4964,0,0,0,15188,0,0,0,18072,0,0,0,89242,0,0,0,4278,0,0,0,17288,0,0]
["ACOT2","ENSG00000119673",14,74042207,"rs779315637","C","G","gnomAD_Exomes","PASS","NA","p.Ser481Ter","p.Ser481Ter","c.1442C>G","stop_gained","segdup,lc_lof",2,175474,1.1397699944151302e-05,0,0,0,13528,0,0,0,20410,0,0,2,3994,0,0,0,15192,0,0,0,17310,0,0,0,85472,0,0,0,4000,0,0,0,15568,0,0]
["ADAD1","ENSG00000164113",4,123317447,"rs773680453","TAAAG","T","gnomAD_Exomes","PASS","NA","p.Glu215AspfsTer5","p.Glu215AspfsTer5","c.645_648delAAGA","frameshift_variant","lof_flag",3,239210,1.25412817189917e-05,0,0,0,15742,0,0,2,31248,0,0,0,9610,0,0,0,17590,0,0,0,21462,0,0,1,110344,0,0,0,5758,0,0,0,27456,0,0]
["ADAD1","ENSG00000164113",4,123317437,"rs766195015","C","CACAGATCGTTAAAGAAAGATTTA","gnomAD_Exomes","PASS","NA","p.Gln219ArgfsTer10","p.Gln219ArgfsTer10","c.631_653dupCAGATCGTTAAAGAAAGATTTAA","frameshift_variant","lof_flag",1,237754,4.20602807944346e-06,0,0,0,15678,0,0,0,31012,0,0,0,9530,0,0,0,17522,0,0,0,21400,0,0,1,109784,0,0,0,5708,0,0,0,27120,0,0]
["ADAD1","ENSG00000164113",4,123317465,"rs759092436","AC","A","gnomAD_Exomes","PASS","NA","p.Leu220Ter","p.Leu220Ter","c.658delC","frameshift_variant","lof_flag",1,244670,4.08713777741448e-06,0,0,0,15876,0,0,0,32828,0,0,0,9876,0,0,0,17998,0,0,0,21520,0,0,1,111808,0,0,0,5900,0,0,0,28864,0,0]
["ADAD1","ENSG00000164113",4,123333968,"rs1388197251","A","G","gnomAD_Exomes","PASS","NA","c.1249+4A>G",null,"c.1249+4A>G","splice_region_variant","lc_lof,os_lof",1,249554,4.00714875337602e-06,0,0,0,16250,0,0,0,34486,0,0,0,9982,0,0,1,18388,0,0,0,21420,0,0,0,112566,0,0,0,6076,0,0,0,30386,0,0]
["ADAD1","ENSG00000164113",4,123336771,"rs1276886165","G","C","gnomAD_Exomes","PASS","NA","p.Ser496Thr","p.Ser496Thr","c.1487G>C","missense_variant","lc_lof,os_lof",1,249912,4.00140849579052e-06,0,0,1,16200,0,0,0,34366,0,0,0,9970,0,0,0,18364,0,0,0,21536,0,0,0,113112,0,0,0,6064,0,0,0,30300,0,0]
["ADAD1","ENSG00000164113",4,123300271,"rs1489193165","G","C","gnomAD_Genomes","NA","PASS","c.-83+1G>C",null,"c.-83+1G>C","splice_donor_variant","lc_lof",1,31392,3.1855249745158005e-05,0,0,0,8710,0,0,0,848,0,0,0,290,0,0,0,1558,0,0,0,3474,0,0,1,15424,0,0,0,1088,0,0,0,0,0,0]
["ADAD1","ENSG00000164113",4,123301250,"rs139643444","A","G","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","c.-27-2A>G",null,"c.-27-2A>G","splice_acceptor_variant","lc_lof",47,281628,0.00016688681523100002,0,0,1,24930,0,0,3,35150,0,0,0,10298,0,0,1,19908,0,0,1,25092,0,0,40,128684,0,0,1,7198,0,0,0,30368,0,0]
["ADAT2","ENSG00000189007",6,143754965,"rs779694368","T","C","gnomAD_Exomes","PASS","NA","c.352+3A>G",null,"c.352+3A>G","splice_region_variant","segdup,lc_lof,os_lof",2,248588,8.04544064878433e-06,0,0,0,15476,0,0,0,34466,0,0,0,10056,0,0,0,17970,0,0,0,21464,0,0,2,112560,0,0,0,6034,0,0,0,30562,0,0]
["ADAT2","ENSG00000189007",6,143753750,"rs201140903","T","C","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","c.353-2A>G",null,"c.353-2A>G","splice_acceptor_variant","lof_flag",3,280918,1.0679272955097202e-05,0,0,0,24194,0,0,0,35374,0,0,0,10362,0,0,0,19536,0,0,0,25030,0,0,3,128678,0,0,0,7148,0,0,0,30596,0,0]
["ADAT2","ENSG00000189007",6,143749646,"rs778931354","G","C","gnomAD_Exomes","PASS","NA","c.533-3C>G",null,"c.533-3C>G","splice_region_variant","lc_lof,os_lof",2,249320,8.02181934862827e-06,0,0,2,15482,0,0,0,34476,0,0,0,10070,0,0,0,17976,0,0,0,21538,0,0,0,113146,0,0,0,6050,0,0,0,30582,0,0]
["ADAT2","ENSG00000189007",6,143753642,null,"C","G","gnomAD_Exomes","PASS","NA","p.Gln153His","p.Gln153His","c.459G>C","missense_variant","lc_lof,os_lof",1,249492,4.00814454972504e-06,0,0,0,15486,0,0,0,34524,0,0,0,10072,0,0,0,17976,0,0,0,21548,0,0,1,113238,0,0,0,6054,0,0,0,30594,0,0]
["ADAT2","ENSG00000189007",6,143753749,"rs756071219","A","G","gnomAD_Exomes","PASS","NA","c.353-1T>C",null,"c.353-1T>C","splice_acceptor_variant","lc_lof,lof_flag",1,249518,4.007726897458299e-06,0,0,0,15486,0,0,0,34528,0,0,0,10072,0,0,0,17976,0,0,0,21554,0,0,1,113248,0,0,0,6058,0,0,0,30596,0,0]
["ADAT2","ENSG00000189007",6,143764287,"rs11440192","A","ATT","gnomAD_Genomes","NA","PASS","p.Phe17PhefsTer?","p.Phe17PhefsTer?","c.46_47dupTT","frameshift_variant","lc_lof,lof_flag",792,31082,0.025480985779551,19,0,486,8620,17,0,21,840,2,0,4,290,0,0,25,1536,0,0,7,3412,0,0,228,15310,0,0,21,1074,0,0,0,0,0,0]
["ADAT2","ENSG00000189007",6,143764287,"rs11440192","A","AT","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS",{"$nulls":3},"frameshift_variant","lc_lof,lof_flag",11653,31090,0.374815053071727,2204,0,3677,8622,791,0,258,840,44,0,129,290,26,0,764,1536,190,0,1406,3412,274,0,5035,15314,820,0,384,1076,59,0,0,0,0,0]
["ADAT2","ENSG00000189007",6,143749617,"rs762303976","C","A","gnomAD_Exomes","PASS","NA","p.Glu187Ter","p.Glu187Ter","c.559G>T","stop_gained","lc_lof",4,249390,1.60391354905971e-05,0,0,0,15482,0,0,0,34492,0,0,0,10070,0,0,0,17974,0,0,0,21554,0,0,0,113170,0,0,0,6054,0,0,4,30594,0,0]
["ADAT2","ENSG00000189007",6,143749612,"rs1351641789","A","T","gnomAD_Genomes","NA","PASS","p.Cys188Ter","p.Cys188Ter","c.564T>A","stop_gained","lc_lof",1,31400,3.18471337579618e-05,0,0,1,8716,0,0,0,848,0,0,0,290,0,0,0,1560,0,0,0,3476,0,0,0,15428,0,0,0,1082,0,0,0,0,0,0]
["AHCTF1","ENSG00000153207",1,247006006,"rs774352585","G","A","gnomAD_Exomes","PASS","NA","p.Gln2209Ter","p.Gln2209Ter","c.6625C>T","stop_gained","segdup,lof_flag",1,249568,4.00692396461085e-06,0,0,0,16068,0,0,0,34520,0,0,0,10004,0,0,0,18352,0,0,0,21588,0,0,0,112414,0,0,1,6092,0,0,0,30530,0,0]
["AHCTF1","ENSG00000153207",1,247012940,"rs1216624363","G","C","gnomAD_Exomes","PASS","NA","p.Ser2132Ter","p.Ser2132Ter","c.6395C>G","stop_gained","segdup,lof_flag",1,249350,4.01042711048727e-06,0,0,0,16230,0,0,0,34120,0,0,0,9940,0,0,0,18360,0,0,0,21604,0,0,1,112576,0,0,0,6074,0,0,0,30446,0,0]
["AHCTF1","ENSG00000153207",1,247024526,"rs1169658393","C","T","gnomAD_Exomes","PASS","NA","p.Trp1278Ter","p.Trp1278Ter","c.3834G>A","stop_gained","segdup,lof_flag",1,245574,4.07209232247714e-06,0,0,0,15804,0,0,0,33996,0,0,0,9878,0,0,0,18182,0,0,0,21390,0,0,1,110456,0,0,0,5984,0,0,0,29884,0,0]
["AHCTF1","ENSG00000153207",1,247006003,"rs749618388","CTTGTT","C","gnomAD_Exomes","PASS","NA","p.Lys2208SerfsTer26","p.Lys2208SerfsTer26","c.6623_6627delAACAA","frameshift_variant","segdup,lof_flag",1,249504,4.00795177632423e-06,0,0,0,16062,0,0,0,34514,0,0,0,10004,0,0,0,18352,0,0,0,21586,0,0,0,112360,0,0,0,6092,0,0,1,30534,0,0]
["AHCTF1","ENSG00000153207",1,247006049,"rs1384041239","CAG","C","gnomAD_Exomes","PASS","NA","p.Leu2194GlyfsTer41","p.Leu2194GlyfsTer41","c.6580_6581delCT","frameshift_variant","segdup,lof_flag",1,250584,3.9906777767135995e-06,0,0,0,16152,0,0,0,34536,0,0,0,10034,0,0,0,18376,0,0,0,21612,0,0,1,113180,0,0,0,6118,0,0,0,30576,0,0]
["AHCTF1","ENSG00000153207",1,247024287,"rs769420501","GTAGT","G","gnomAD_Exomes","PASS","NA","p.Thr1357LeufsTer3","p.Thr1357LeufsTer3","c.4069_4072delACTA","frameshift_variant","segdup,lof_flag",1,250796,3.98730442271807e-06,0,0,0,16092,0,0,0,34570,0,0,0,10074,0,0,0,18388,0,0,0,21642,0,0,1,113310,0,0,0,6108,0,0,0,30612,0,0]
["AHCTF1","ENSG00000153207",1,247007221,"rs778039087","A","AT","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Ile2143AsnfsTer35","p.Ile2143AsnfsTer35","c.6427dupA","frameshift_variant","segdup,lof_flag",2,213984,9.34649319575295e-06,0,0,0,20442,0,0,0,16762,0,0,0,7192,0,0,1,13404,0,0,0,23516,0,0,1,106984,0,0,0,4990,0,0,0,20694,0,0]
["AHCTF1","ENSG00000153207",1,247004155,"rs1396238113","T","A","gnomAD_Exomes","PASS","NA","p.Lys2261Ter","p.Lys2261Ter","c.6781A>T","stop_gained","segdup,lc_lof",1,240956,4.150135294410599e-06,0,0,0,16012,0,0,1,31598,0,0,0,9760,0,0,0,17764,0,0,0,21492,0,0,0,110740,0,0,0,5914,0,0,0,27676,0,0]
["AHCTF1","ENSG00000153207",1,247094521,"rs777379821","G","T","gnomAD_Exomes","PASS","NA","p.Ser3Ter","p.Ser3Ter","c.8C>A","stop_gained","lof_flag",2,147064,1.35995212968504e-05,0,0,0,6824,0,0,0,24376,0,0,0,8350,0,0,0,10748,0,0,0,15698,0,0,0,54260,0,0,0,4236,0,0,2,22572,0,0]
["AHCTF1","ENSG00000153207",1,247094608,"rs1411920374","A","G","gnomAD_Exomes","PASS","NA","c.20+2T>C",null,"c.20+2T>C","splice_donor_variant","lc_lof",1,142550,7.015082427218519e-06,0,0,0,6538,0,0,1,24280,0,0,0,8154,0,0,0,10480,0,0,0,15112,0,0,0,51436,0,0,0,4132,0,0,0,22418,0,0]
["AHCYL1","ENSG00000168710",1,110557384,"rs1235910654","G","A","gnomAD_Exomes","PASS","NA","c.581-1G>A",null,"c.581-1G>A","splice_acceptor_variant","lof_flag",1,251368,3.97823111931511e-06,0,0,1,16256,0,0,0,34586,0,0,0,10078,0,0,0,18392,0,0,0,21644,0,0,0,113664,0,0,0,6136,0,0,0,30612,0,0]
["AHCYL1","ENSG00000168710",1,110547064,"rs564411267","T","C","gnomAD_Genomes","NA","PASS","c.-22+2T>C",null,"c.-22+2T>C","splice_donor_variant","lc_lof",9,31390,0.00028671551449500004,0,0,9,8710,0,0,0,848,0,0,0,290,0,0,0,1556,0,0,0,3472,0,0,0,15428,0,0,0,1086,0,0,0,0,0,0]
["AKAP4","ENSG00000147081","X",49962190,"rs781829873","C","T","gnomAD_Exomes","PASS","NA","c.174+5G>A",null,"c.174+5G>A","splice_region_variant","lc_lof,os_lof",4,178280,2.2436616558223e-05,0,1,0,12844,0,0,0,26478,0,0,0,7401,0,0,1,13385,0,0,0,15660,0,0,3,80095,0,1,0,4367,0,0,0,18050,0,0]
["AKT1S1","ENSG00000204673",19,50381498,"rs1264769797","G","T","gnomAD_Exomes","PASS","NA","p.Lys40Asn","p.Lys40Asn","c.120G>T","missense_variant","lc_lof,os_lof",1,163784,6.10560250085478e-06,0,0,0,9282,0,0,1,25220,0,0,0,8614,0,0,0,11694,0,0,0,15772,0,0,0,65212,0,0,0,4592,0,0,0,23398,0,0]
["AKT1S1","ENSG00000204673",19,50380493,"rs187080238","C","A","gnomAD_Genomes","NA","PASS","c.-8+1G>T",null,"c.-8+1G>T","splice_donor_variant","lc_lof",18,31410,0.000573065902579,0,0,0,8718,0,0,0,846,0,0,0,290,0,0,0,1560,0,0,7,3474,0,0,10,15434,0,0,1,1088,0,0,0,0,0,0]
["AKT1S1","ENSG00000204673",19,50381425,"rs144737346","A","G","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","c.-8+2T>C",null,"c.-8+2T>C","splice_donor_variant","lc_lof",17,225352,7.54375377187689e-05,0,0,0,20008,0,0,0,29508,0,0,0,9346,0,0,0,15556,0,0,0,20842,0,0,12,99002,0,0,0,6192,0,0,5,24898,0,0]
["AKT1S1","ENSG00000204673",19,50380492,"rs927253500","ACCT","A","gnomAD_Genomes","NA","PASS","c.-9_-8+1delAGG",null,"c.-9_-8+1delAGG","splice_donor_variant","lc_lof",2,31310,6.387735547748321e-05,0,0,0,8696,0,0,0,848,0,0,0,286,0,0,0,1558,0,0,0,3470,0,0,2,15366,0,0,0,1086,0,0,0,0,0,0]
["AKT1S1","ENSG00000204673",19,50380280,"rs905869436","A","G","gnomAD_Genomes","NA","PASS","c.-8+2T>C",null,"c.-8+2T>C","splice_donor_variant","lc_lof",1,31376,3.18714941356451e-05,0,0,0,8706,0,0,0,848,0,0,0,290,0,0,0,1558,0,0,0,3476,0,0,1,15412,0,0,0,1086,0,0,0,0,0,0]
["AKT1S1","ENSG00000204673",19,50373221,"rs1481269687","GC","G","gnomAD_Exomes","PASS","NA","p.Pro262ArgfsTer11","p.Pro262ArgfsTer11","c.783delG","frameshift_variant","lc_lof",1,161372,6.19686190912922e-06,0,0,0,8150,0,0,0,25064,0,0,0,8210,0,0,0,10978,0,0,0,15986,0,0,0,66228,0,0,1,4278,0,0,0,22478,0,0]
["ALG1L","ENSG00000189366",3,125650476,"rs1381355430","C","A","gnomAD_Exomes","PASS","NA","c.275+5G>T",null,"c.275+5G>T","splice_region_variant","segdup,lc_lof,os_lof",1,249666,4.00535114913524e-06,0,0,1,15940,0,0,0,34542,0,0,0,10030,0,0,0,18322,0,0,0,21394,0,0,0,112714,0,0,0,6118,0,0,0,30606,0,0]
["ALG1L","ENSG00000189366",3,125651555,"rs1176374683","G","C","gnomAD_Exomes","PASS","NA","c.101-3C>G",null,"c.101-3C>G","splice_region_variant","segdup,lc_lof,os_lof",1,250712,3.98864035227672e-06,0,0,0,16236,0,0,0,34526,0,0,0,10058,0,0,0,18372,0,0,0,21646,0,0,0,113278,0,0,0,6116,0,0,1,30480,0,0]
["ALG1L","ENSG00000189366",3,125650481,"rs766790697","C","A","gnomAD_Exomes","PASS","NA","p.Cys92Phe","p.Cys92Phe","c.275G>T","missense_variant","segdup,lc_lof,os_lof",2,249828,8.00550778935908e-06,0,0,2,15992,0,0,0,34556,0,0,0,10036,0,0,0,18340,0,0,0,21424,0,0,0,112760,0,0,0,6116,0,0,0,30604,0,0]
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["ANXA2","ENSG00000182718",15,60688477,"rs867259749","A","G","gnomAD_Genomes","NA","PASS","c.-12+2T>C",null,"c.-12+2T>C","splice_donor_variant","lc_lof",2,31364,6.376737661012621e-05,0,0,0,8694,0,0,0,848,0,0,0,290,0,0,0,1560,0,0,0,3472,0,0,2,15414,0,0,0,1086,0,0,0,0,0,0]
["ANXA2","ENSG00000182718",15,60690843,"rs1167186082","C","T","gnomAD_Genomes","NA","PASS","c.-12+1G>A",null,"c.-12+1G>A","splice_donor_variant","lc_lof",2,31318,6.38610383804841e-05,0,0,0,8698,0,0,0,848,0,0,0,290,0,0,0,1560,0,0,0,3460,0,0,2,15380,0,0,0,1082,0,0,0,0,0,0]
["ANXA2","ENSG00000182718",15,60683220,"rs1217385221","A","G","gnomAD_Genomes","NA","PASS","c.-117+2T>C",null,"c.-117+2T>C","splice_donor_variant","lc_lof",1,31400,3.18471337579618e-05,0,0,0,8714,0,0,0,846,0,0,0,290,0,0,0,1560,0,0,0,3476,0,0,0,15426,0,0,1,1088,0,0,0,0,0,0]
["ANXA2","ENSG00000182718",15,60688478,"rs1399101895","C","T","gnomAD_Genomes","NA","PASS","c.-12+1G>A",null,"c.-12+1G>A","splice_donor_variant","lc_lof",1,31384,3.1863369869997405e-05,0,0,1,8702,0,0,0,848,0,0,0,290,0,0,0,1560,0,0,0,3476,0,0,0,15422,0,0,0,1086,0,0,0,0,0,0]
["ANXA2","ENSG00000182718",15,60689456,"rs1193947379","C","T","gnomAD_Genomes","NA","PASS","c.-12+1G>A",null,"c.-12+1G>A","splice_donor_variant","lc_lof",1,31384,3.1863369869997405e-05,0,0,0,8718,0,0,0,848,0,0,0,290,0,0,0,1560,0,0,0,3474,0,0,1,15410,0,0,0,1084,0,0,0,0,0,0]
["ANXA2","ENSG00000182718",15,60688628,"rs57266059","T","A","gnomAD_Genomes","NA","PASS","c.-159-2A>T",null,"c.-159-2A>T","splice_acceptor_variant","lc_lof",100,31372,0.0031875557822260005,0,0,100,8706,0,0,0,846,0,0,0,288,0,0,0,1556,0,0,0,3474,0,0,0,15414,0,0,0,1088,0,0,0,0,0,0]
["ANXA6","ENSG00000197043",5,150490183,"rs771621387","C","T","gnomAD_Exomes","PASS","NA","c.1590+5G>A",null,"c.1590+5G>A","splice_region_variant","lc_lof,os_lof",1,248914,4.017451810665529e-06,0,0,0,15434,0,0,0,34492,0,0,0,10058,0,0,0,17970,0,0,0,21544,0,0,0,112790,0,0,0,6036,0,0,1,30590,0,0]
["ANXA6","ENSG00000197043",5,150515817,"rs749163539","C","T","gnomAD_Exomes","PASS","NA","c.489G>A","c.489G>A(p.=)","c.489G>A","splice_region_variant","lc_lof,os_lof",1,248892,4.01780692027064e-06,0,0,0,15472,0,0,1,34516,0,0,0,10046,0,0,0,17972,0,0,0,21536,0,0,0,112720,0,0,0,6032,0,0,0,30598,0,0]
["ANXA6","ENSG00000197043",5,150501708,"rs1409660787","C","A","gnomAD_Exomes","PASS","NA","p.Glu449Asp","p.Glu449Asp","c.1347G>T","missense_variant","lc_lof,os_lof",1,223796,4.468355109117229e-06,0,0,0,13932,0,0,0,27730,0,0,0,9034,0,0,0,15456,0,0,0,21048,0,0,0,104508,0,0,0,5208,0,0,1,26880,0,0]
["ANXA6","ENSG00000197043",5,150503847,"rs368961879","C","T","gnomAD_Exomes","PASS","NA","p.Gly380Arg","p.Gly380Arg","c.1138G>A","missense_variant","lc_lof,os_lof",3,247924,1.2100482405898601e-05,0,0,0,15218,0,0,1,34364,0,0,0,10018,0,0,0,17898,0,0,0,21500,0,0,2,112514,0,0,0,6032,0,0,0,30380,0,0]
["ANXA6","ENSG00000197043",5,150515817,"rs749163539","C","G","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Gln163His","p.Gln163His","c.489G>C","missense_variant","lc_lof,os_lof",2,280286,7.13556866914509e-06,0,0,0,24180,0,0,0,35362,0,0,0,10336,0,0,0,19530,0,0,0,25012,0,0,2,128148,0,0,0,7120,0,0,0,30598,0,0]
["ANXA6","ENSG00000197043",5,150502582,"rs370608103","C","T","gnomAD_Exomes","PASS","NA","c.1139-10G>A",null,"c.1139-10G>A","intron_variant","lc_lof,os_lof",1,248010,4.03209548002097e-06,0,0,0,15488,0,0,0,34506,0,0,0,10046,0,0,0,17972,0,0,0,20802,0,0,1,112562,0,0,0,6034,0,0,0,30600,0,0]
["ANXA6","ENSG00000197043",5,150519886,"rs1209962073","A","AC","gnomAD_Genomes","NA","PASS","c.-79+1dupG",null,"c.-79+1dupG","splice_donor_variant","lc_lof",1,31378,3.1869462680859205e-05,0,0,0,8706,0,0,0,848,0,0,0,290,0,0,0,1560,0,0,0,3474,0,0,1,15412,0,0,0,1088,0,0,0,0,0,0]
["ANXA6","ENSG00000197043",5,150481051,"rs766069902","G","GTC","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Asp660GlufsTer4","p.Asp660GlufsTer4","c.1978_1979dupGA","frameshift_variant","lc_lof",2,201038,9.94836797023448e-06,0,0,0,17762,0,0,0,26768,0,0,0,9030,0,0,0,13400,0,0,0,20556,0,0,2,84560,0,0,0,5708,0,0,0,23254,0,0]
["ANXA6","ENSG00000197043",5,150480463,"rs558497301","CA","C","gnomAD_Exomes","PASS","NA","p.Cys88AlafsTer14","p.Cys88AlafsTer14","c.260delT","frameshift_variant","lc_lof",1,128422,7.786827802089979e-06,0,0,0,6086,0,0,0,24356,0,0,0,8096,0,0,0,10432,0,0,0,5386,0,0,1,47682,0,0,0,4000,0,0,0,22384,0,0]
["ANXA6","ENSG00000197043",5,150483130,"rs772069737","C","CCT","gnomAD_Exomes","PASS","NA","p.Gly655ArgfsTer9","p.Gly655ArgfsTer9","c.1961_1962dupAG","frameshift_variant","lc_lof",1,246968,4.0491075766901e-06,0,0,0,15318,0,0,1,34142,0,0,0,9960,0,0,0,17848,0,0,0,21470,0,0,0,112044,0,0,0,5990,0,0,0,30196,0,0]
["ARHGAP20","ENSG00000137727",11,110453042,"rs1302925435","T","C","gnomAD_Exomes","PASS","NA","c.1720+3A>G",null,"c.1720+3A>G","splice_region_variant","segdup,lc_lof,os_lof",1,250880,3.9859693877551e-06,0,0,0,16244,0,0,0,34478,0,0,0,10072,0,0,0,18388,0,0,0,21578,0,0,0,113474,0,0,0,6120,0,0,1,30526,0,0]
["ARHGAP20","ENSG00000137727",11,110457053,"rs188683317","AAATAGATGGAAAAACAAAT","A","gnomAD_Exomes","PASS","NA","c.1306-23_1306-5delATTTGTTTTTCCATCTATT",null,"c.1306-23_1306-5delATTTGTTTTTCCATCTATT","splice_region_variant","segdup,lc_lof,os_lof",1,213348,4.68717775652924e-06,0,0,1,14504,0,0,0,23772,0,0,0,7898,0,0,0,15852,0,0,0,20558,0,0,0,102320,0,0,0,4918,0,0,0,23526,0,0]
["ARHGAP20","ENSG00000137727",11,110582388,"rs944237914","AGC","A","gnomAD_Exomes","PASS","NA","p.Leu10GlufsTer21","p.Leu10GlufsTer21","c.27_28delGC","frameshift_variant","lof_flag",1,68804,1.4534038718679103e-05,0,0,0,1614,0,0,0,14506,0,0,0,4752,0,0,0,3820,0,0,0,3630,0,0,1,23890,0,0,0,2142,0,0,0,14450,0,0]
["ARHGAP20","ENSG00000137727",11,110450161,"rs1481061663","G","GTCGCATCCTCTAGAGTC","gnomAD_Exomes","PASS","NA","p.Thr1170ArgfsTer3","p.Thr1170ArgfsTer3","c.3492_3508dupGACTCTAGAGGATGCGA","stop_gained","lc_lof",1,251120,3.98215992354253e-06,0,0,0,16254,0,0,0,34586,0,0,0,10068,0,0,0,18394,0,0,0,21644,0,0,1,113442,0,0,0,6124,0,0,0,30608,0,0]
["ARHGAP20","ENSG00000137727",11,110450126,"rs755241765","TG","T","gnomAD_Exomes","PASS","NA","p.Asp1181GlufsTer7","p.Asp1181GlufsTer7","c.3543delC","frameshift_variant","lc_lof",2,249772,8.00730266002594e-06,0,0,0,16236,0,0,0,34322,0,0,0,9952,0,0,0,18364,0,0,0,21586,0,0,2,112764,0,0,0,6056,0,0,0,30492,0,0]
["ARMC6","ENSG00000105676",19,19166072,"rs1321151162","A","G","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","c.1024-2A>G",null,"c.1024-2A>G","splice_acceptor_variant","lof_flag",2,264702,7.55566637199568e-06,0,0,0,24710,0,0,0,32892,0,0,0,8928,0,0,0,19298,0,0,0,23928,0,0,2,121038,0,0,0,6708,0,0,0,27200,0,0]
["ARMC6","ENSG00000105676",19,19166073,"rs1327345388","G","C","gnomAD_Exomes","PASS","NA","c.1024-1G>C",null,"c.1024-1G>C","splice_acceptor_variant","lof_flag",1,233632,4.28023558416655e-06,0,0,0,16006,0,0,0,32024,0,0,0,8660,0,0,0,17742,0,0,0,20466,0,0,0,105802,0,0,0,5630,0,0,1,27302,0,0]
["ARMC6","ENSG00000105676",19,19166072,"rs1321151162","A","C","gnomAD_Genomes","NA","PASS","c.1024-2A>C",null,"c.1024-2A>C","splice_acceptor_variant","lof_flag",1,31386,3.1861339450710506e-05,0,0,0,8712,0,0,0,848,0,0,0,290,0,0,0,1560,0,0,0,3472,0,0,1,15422,0,0,0,1082,0,0,0,0,0,0]
["ARMC6","ENSG00000105676",19,19145019,"rs773605579","A","AT","gnomAD_Exomes","PASS","NA","p.Met1?","p.Met1?","c.2dupT","frameshift_variant","lof_flag",2,223338,8.9550367604259e-06,0,0,0,13088,0,0,0,33664,0,0,0,9664,0,0,0,17354,0,0,0,11400,0,0,2,103342,0,0,0,5778,0,0,0,29048,0,0]
["ARMC6","ENSG00000105676",19,19153517,"rs1325191985","C","G","gnomAD_Exomes","PASS","NA","c.30-3C>G",null,"c.30-3C>G","splice_region_variant","lc_lof,os_lof",1,249772,4.00365133001297e-06,0,0,0,16252,0,0,1,34580,0,0,0,10076,0,0,0,18386,0,0,0,20110,0,0,0,113638,0,0,0,6116,0,0,0,30614,0,0]
["ARMC6","ENSG00000105676",19,19164958,"rs763496559","C","G","gnomAD_Exomes","PASS","NA","c.854-3C>G",null,"c.854-3C>G","splice_region_variant","lc_lof,os_lof",3,209812,1.42985148609231e-05,0,0,0,14718,0,0,0,27014,0,0,0,7142,0,0,0,15174,0,0,0,19888,0,0,3,97332,0,0,0,4884,0,0,0,23660,0,0]
["ARMC6","ENSG00000105676",19,19168222,"rs748088904","C","G","gnomAD_Exomes","PASS","NA","c.1294-3C>G",null,"c.1294-3C>G","splice_region_variant","lc_lof,os_lof",1,249342,4.01055578282038e-06,0,0,1,16238,0,0,0,34492,0,0,0,9980,0,0,0,18390,0,0,0,21482,0,0,0,112216,0,0,0,6098,0,0,0,30446,0,0]
["ARMC6","ENSG00000105676",19,19166737,"rs757342971","G","T","gnomAD_Exomes","PASS","NA","p.Gln431His","p.Gln431His","c.1293G>T","missense_variant","lc_lof,os_lof",1,240710,4.1543766357858e-06,0,0,0,15274,0,0,0,34278,0,0,0,9862,0,0,0,18158,0,0,0,17710,0,0,1,109136,0,0,0,5950,0,0,0,30342,0,0]
["ARMC6","ENSG00000105676",19,19166737,"rs757342971","G","C","gnomAD_Exomes","PASS","NA","p.Gln431His","p.Gln431His","c.1293G>C","missense_variant","lc_lof,os_lof",1,240710,4.1543766357858e-06,0,0,0,15274,0,0,0,34278,0,0,0,9862,0,0,0,18158,0,0,0,17710,0,0,0,109136,0,0,0,5950,0,0,1,30342,0,0]
["ARMC6","ENSG00000105676",19,19150183,"rs12979565","C","T","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Gln28Ter","p.Gln28Ter","c.82C>T","stop_gained","lc_lof,lof_flag",112870,155860,0.724175542153214,41664,0,6791,14540,1597,0,18837,24230,7355,0,6067,8324,2185,0,10105,11544,4424,0,6313,8808,2276,0,45140,61776,16533,0,3600,4956,1306,0,16017,21682,5988,0]
["ARMC6","ENSG00000105676",19,19144999,"rs765673153","A","T","gnomAD_Exomes","PASS","NA","c.-18-2A>T",null,"c.-18-2A>T","splice_acceptor_variant","lc_lof,lof_flag",4,222026,1.8015908046805303e-05,0,0,0,12954,0,0,0,33462,0,0,0,9626,0,0,0,17294,0,0,0,11308,0,0,4,102708,0,0,0,5732,0,0,0,28942,0,0]
["ARMC6","ENSG00000105676",19,19145000,"rs775909415","G","A","gnomAD_Exomes","PASS","NA","c.-18-1G>A",null,"c.-18-1G>A","splice_acceptor_variant","lc_lof,lof_flag",3,222034,1.3511444193231701e-05,0,0,0,12946,0,0,0,33460,0,0,0,9630,0,0,0,17300,0,0,0,11318,0,0,3,102698,0,0,0,5738,0,0,0,28944,0,0]
["ARMC6","ENSG00000105676",19,19153524,"rs200959993","G","A","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","c.-41-1G>A",null,"c.-41-1G>A","splice_acceptor_variant","lc_lof,lof_flag",17,281554,6.03791812583021e-05,0,0,0,24968,0,0,0,35432,0,0,0,10368,0,0,0,19946,0,0,0,23916,0,0,17,129100,0,0,0,7208,0,0,0,30616,0,0]
["ARMC6","ENSG00000105676",19,19150209,"rs907974952","GCA","G","gnomAD_Exomes","PASS","NA","p.His37LeufsTer?","p.His37LeufsTer?","c.110_111delAC","frameshift_variant","lc_lof,lof_flag",1,126324,7.91615211677908e-06,0,0,0,6022,0,0,0,23854,0,0,0,8048,0,0,1,10240,0,0,0,5346,0,0,0,46874,0,0,0,3922,0,0,0,22018,0,0]
["ARMC6","ENSG00000105676",19,19168278,"rs767749400","G","T","gnomAD_Exomes","PASS","NA","p.Glu130Ter","p.Glu130Ter","c.386G>T","stop_gained","lc_lof",1,251166,3.98143060764594e-06,0,0,0,16246,0,0,0,34580,0,0,0,10070,0,0,0,18394,0,0,0,21568,0,0,0,113564,0,0,0,6128,0,0,1,30616,0,0]
["ARMC6","ENSG00000105676",19,19168468,"rs375344949","G","A","gnomAD_Exomes","PASS","NA","c.*30+1G>A",null,"c.*30+1G>A","splice_donor_variant","lc_lof",1,243606,4.1049892038783905e-06,0,0,1,15762,0,0,0,34454,0,0,0,9978,0,0,0,18286,0,0,0,16828,0,0,0,111694,0,0,0,6036,0,0,0,30568,0,0]
["ARMC6","ENSG00000105676",19,19166739,"rs781508584","T","TGGGCA","gnomAD_Exomes","PASS","NA","p.Asp101GlnfsTer84","p.Asp101GlnfsTer84","c.294_298dupCAGGG","frameshift_variant","lc_lof",6,240292,2.4969620295307402e-05,0,0,0,15254,0,0,0,34234,0,0,0,9842,0,0,0,18156,0,0,0,17572,0,0,6,108968,0,0,0,5944,0,0,0,30322,0,0]
["ATP5MPL","ENSG00000156411",14,104380866,"rs1203496759","G","A","gnomAD_Exomes","PASS","NA","p.Gln77Ter","p.Gln77Ter","c.229C>T","stop_gained","lof_flag",1,129516,7.72105376941845e-06,0,0,0,6142,0,0,0,23228,0,0,0,8054,0,0,0,10090,0,0,0,5268,0,0,1,51088,0,0,0,3952,0,0,0,21694,0,0]
["ATP5MPL","ENSG00000156411",14,104380872,"rs1191040107","C","A","gnomAD_Exomes","PASS","NA","p.Glu75Ter","p.Glu75Ter","c.223G>T","stop_gained","lof_flag",1,130706,7.65075819013664e-06,0,0,0,6146,0,0,0,23490,0,0,0,8192,0,0,0,10160,0,0,0,5306,0,0,0,51602,0,0,1,3994,0,0,0,21816,0,0]
["ATP5MPL","ENSG00000156411",14,104380871,"rs201217582","TC","T","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Glu75SerfsTer20","p.Glu75SerfsTer20","c.223delG","frameshift_variant","lof_flag",3576,162092,0.022061545295265002,63,0,98,14862,0,0,467,24332,5,0,318,8480,10,0,0,11738,0,0,360,8764,16,0,1985,67022,27,0,158,5082,2,0,190,21812,3,0]
["ATP5MPL","ENSG00000156411",14,104380836,"rs775047516","GTTCAAAGT","G","gnomAD_Exomes","PASS","NA","p.Asn84ThrfsTer4","p.Asn84ThrfsTer4","c.251_258delACTTTGAA","frameshift_variant","lof_flag",1,118374,8.44780103738997e-06,0,0,0,5984,0,0,0,20018,0,0,0,7172,0,0,0,9382,0,0,0,4890,0,0,0,48026,0,0,0,3624,0,0,1,19278,0,0]
["ATP5MPL","ENSG00000156411",14,104380888,null,"AG","A","gnomAD_Exomes","PASS","NA","p.Ala69ValfsTer26","p.Ala69ValfsTer26","c.206delC","frameshift_variant","lof_flag",1,130396,7.668946900211659e-06,0,0,0,6060,0,0,0,23570,0,0,0,8202,0,0,0,10104,0,0,0,5314,0,0,1,51394,0,0,0,3994,0,0,0,21758,0,0]
["ATP5MPL","ENSG00000156411",14,104380928,"rs1297250896","AG","A","gnomAD_Exomes","PASS","NA","p.Leu56TrpfsTer39","p.Leu56TrpfsTer39","c.166delC","frameshift_variant","lof_flag",1,122688,8.15075639019301e-06,0,0,0,5760,0,0,0,21766,0,0,0,7644,0,0,1,9558,0,0,0,5118,0,0,0,48466,0,0,0,3772,0,0,0,20604,0,0]
["ATP5MPL","ENSG00000156411",14,104387313,"rs1207544858","TC","T","gnomAD_Exomes","PASS","NA","p.Gly5GlufsTer26","p.Gly5GlufsTer26","c.14delG","frameshift_variant","lof_flag",1,154078,6.49021923960591e-06,0,0,0,7916,0,0,0,24690,0,0,0,8494,0,0,0,10900,0,0,0,15280,0,0,0,59684,0,0,0,4340,0,0,1,22774,0,0]
["ATP5MPL","ENSG00000156411",14,104381398,"rs140374540","C","T","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","c.175+5G>A",null,"c.175+5G>A","splice_region_variant","lc_lof,os_lof",6,282322,2.1252328901042102e-05,0,0,0,24934,0,0,0,35252,0,0,1,10364,0,0,0,19940,0,0,0,25088,0,0,5,129032,0,0,0,7214,0,0,0,30498,0,0]
["ATP5MPL","ENSG00000156411",14,104380269,"rs769668721","C","T","gnomAD_Exomes","PASS","NA","p.Trp59Ter","p.Trp59Ter","c.177G>A","stop_gained","lc_lof",5,249832,2.00134490377534e-05,0,0,0,15912,0,0,0,34380,0,0,0,9976,0,0,0,18364,0,0,0,21606,0,0,0,113148,0,0,0,6110,0,0,5,30336,0,0]
["ATP5MPL","ENSG00000156411",14,104384341,"rs1216262655","C","T","gnomAD_Genomes","NA","PASS","c.-1+1G>A",null,"c.-1+1G>A","splice_donor_variant","lc_lof",4,31394,0.00012741288144200002,0,0,0,8706,0,0,1,848,0,0,0,290,0,0,3,1558,0,0,0,3476,0,0,0,15428,0,0,0,1088,0,0,0,0,0,0]
["ATP5MPL","ENSG00000156411",14,104380242,"rs779998889","GA","G","gnomAD_Exomes","PASS","NA","p.Phe68SerfsTer24","p.Phe68SerfsTer24","c.203delT","frameshift_variant","lc_lof",2,247516,8.08028571890302e-06,0,0,0,15474,0,0,0,34244,0,0,0,9796,0,0,0,18308,0,0,0,21526,0,0,2,111902,0,0,0,6074,0,0,0,30192,0,0]
["ATP6V0B","ENSG00000117410",1,44440840,"rs772090056","C","A","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Ser43Ter","p.Ser43Ter","c.128C>A","stop_gained","lof_flag",5,59514,8.401384548173541e-05,0,0,2,9860,0,0,0,8212,0,0,0,978,0,0,0,3960,0,0,0,4786,0,0,3,24096,0,0,0,2054,0,0,0,5568,0,0]
["ATP6V0B","ENSG00000117410",1,44440963,"rs112918429","A","ACTCC","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Glu84AspfsTer63","p.Glu84AspfsTer63","c.251_252insCTCC","frameshift_variant","lof_flag",36,98136,0.00036683785766700004,0,0,32,10680,0,0,2,15836,0,0,0,4698,0,0,0,5554,0,0,0,6560,0,0,1,36592,0,0,0,3192,0,0,1,15024,0,0]
["ATP6V0B","ENSG00000117410",1,44440942,"rs1296993717","AC","A","gnomAD_Genomes","NA","PASS","p.Pro78ArgfsTer11","p.Pro78ArgfsTer11","c.233delC","frameshift_variant","lof_flag",1,31336,3.1912177687005404e-05,0,0,0,8700,0,0,0,848,0,0,0,290,0,0,0,1558,0,0,0,3466,0,0,1,15392,0,0,0,1082,0,0,0,0,0,0]
["ATP6V0B","ENSG00000117410",1,44442918,"rs1398901516","T","A","gnomAD_Exomes","PASS","NA","p.Cys207Ter","p.Cys207Ter","c.621T>A","stop_gained","lc_lof",1,250822,3.98689110205644e-06,0,0,0,16218,0,0,0,34586,0,0,0,10076,0,0,0,18392,0,0,0,21642,0,0,1,113166,0,0,0,6126,0,0,0,30616,0,0]
["ATP6V0B","ENSG00000117410",1,44442955,"rs939810460","A","T","gnomAD_Exomes","PASS","NA","p.Lys220Ter","p.Lys220Ter","c.658A>T","stop_gained","lc_lof",1,247974,4.032680845572519e-06,0,0,1,15790,0,0,0,34470,0,0,0,10050,0,0,0,18204,0,0,0,21498,0,0,0,111300,0,0,0,6074,0,0,0,30588,0,0]
["ATP6V0B","ENSG00000117410",1,44443049,"rs114910060","GCTCT","G","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Ser252TyrfsTer5","p.Ser252TyrfsTer5","c.755_758delCTCT","frameshift_variant","lc_lof",5,159662,3.1316155378236505e-05,0,0,0,15312,0,0,0,22902,0,0,0,7732,0,0,0,11996,0,0,0,10784,0,0,5,65904,0,0,0,5010,0,0,0,20022,0,0]
["ATP6V0B","ENSG00000117410",1,44442913,"rs757765729","CTG","C","gnomAD_Exomes","PASS","NA","p.Cys207SerfsTer6","p.Cys207SerfsTer6","c.620_621delGT","frameshift_variant","lc_lof",3,250900,1.19569549621363e-05,0,0,0,16230,0,0,0,34586,0,0,0,10078,0,0,3,18394,0,0,0,21646,0,0,0,113220,0,0,0,6130,0,0,0,30616,0,0]
["ATP6V0B","ENSG00000117410",1,44442980,"rs1407889711","CTA","C","gnomAD_Exomes","PASS","NA","p.Ile229AsnfsTer44","p.Ile229AsnfsTer44","c.686_687delTA","frameshift_variant","lc_lof",1,233588,4.28104183434081e-06,0,0,0,14110,0,0,0,33078,0,0,0,9790,0,0,0,17398,0,0,0,20086,0,0,1,103420,0,0,0,5806,0,0,0,29900,0,0]
["ATP6V0B","ENSG00000117410",1,44443049,"rs114910060","GCT","G","gnomAD_Exomes","PASS","NA","p.Leu253IlefsTer20","p.Leu253IlefsTer20","c.757_758delCT","frameshift_variant","lc_lof",1,128264,7.79641988398927e-06,0,0,0,6598,0,0,0,22054,0,0,0,7442,0,0,0,10438,0,0,0,7310,0,0,0,50476,0,0,0,3924,0,0,1,20022,0,0]
["B3GALT5","ENSG00000183778",21,40981516,"rs77607750","A","C","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Leu49Ter","p.Leu49Ter","c.146T>G","stop_gained","lc_lof,lof_flag",1020,190316,0.0053595073456780004,23,0,945,17430,23,0,47,25600,0,0,0,8802,0,0,0,12870,0,0,1,20420,0,0,9,76822,0,0,14,5584,0,0,4,22788,0,0]
["B3GALT5","ENSG00000183778",21,40981535,"rs1165252621","CCT","C","gnomAD_Exomes","PASS","NA","p.Gln42ArgfsTer9","p.Gln42ArgfsTer9","c.125_126delAG","frameshift_variant","lc_lof,lof_flag",1,158944,6.2915240587879995e-06,0,0,0,8748,0,0,1,24756,0,0,0,8510,0,0,0,11316,0,0,0,16948,0,0,0,61384,0,0,0,4494,0,0,0,22788,0,0]
["B3GALT5","ENSG00000183778",21,40969826,"rs662571","G","T","gnomAD_Exomes","PASS","NA","p.Cys81Ter","p.Cys81Ter","c.243C>A","stop_gained","lc_lof",1,152908,6.53988018939493e-06,0,0,0,8664,0,0,0,24738,0,0,0,8464,0,0,0,11308,0,0,0,15362,0,0,1,57222,0,0,0,4380,0,0,0,22770,0,0]
["B3GALT5","ENSG00000183778",21,41033200,"rs771535432","C","A","gnomAD_Exomes","PASS","NA","p.Tyr238Ter","p.Tyr238Ter","c.714C>A","stop_gained","lc_lof",1,251412,3.97753488298092e-06,0,0,0,16256,0,0,0,34586,0,0,0,10080,0,0,1,18392,0,0,0,21612,0,0,0,113734,0,0,0,6138,0,0,0,30614,0,0]
["B3GALT5","ENSG00000183778",21,41029821,"rs1317234215","G","T","gnomAD_Genomes","NA","PASS","c.-161+1G>T",null,"c.-161+1G>T","splice_donor_variant","lc_lof",7,31404,0.00022290154120500002,0,0,0,8708,0,0,0,848,0,0,0,290,0,0,0,1560,0,0,0,3476,0,0,7,15434,0,0,0,1088,0,0,0,0,0,0]
["B3GALT5","ENSG00000183778",21,40928438,"rs918680253","G","A","gnomAD_Genomes","NA","PASS","c.-524+1G>A",null,"c.-524+1G>A","splice_donor_variant","lc_lof",5,31404,0.00015921538657500002,0,0,0,8710,0,0,0,848,0,0,0,290,0,0,0,1560,0,0,0,3476,0,0,4,15432,0,0,1,1088,0,0,0,0,0,0]
["B3GALT5","ENSG00000183778",21,41018318,"rs145244218","G","A","gnomAD_Genomes","NA","PASS","c.-391-1G>A",null,"c.-391-1G>A","splice_acceptor_variant","lc_lof",4,31402,0.00012738042162900001,0,0,0,8714,0,0,0,848,0,0,0,290,0,0,4,1560,0,0,0,3476,0,0,0,15426,0,0,0,1088,0,0,0,0,0,0]
["B3GALT5","ENSG00000183778",21,40969820,"rs1323698875","GATCCTGCACCAGAGCTCAGCACTGATGAC","G","gnomAD_Exomes","PASS","NA","p.Val74ProfsTer18","p.Val74ProfsTer18","c.220_248delGTCATCAGTGCTGAGCTCTGGTGCAGGAT","frameshift_variant","lc_lof",2,152892,1.30811291630694e-05,0,0,0,8654,0,0,2,24734,0,0,0,8460,0,0,0,11304,0,0,0,15362,0,0,0,57230,0,0,0,4380,0,0,0,22768,0,0]
["B3GALT5","ENSG00000183778",21,40977887,null,"TCA","T","gnomAD_Exomes","PASS","NA","p.Ter65Ile","p.Ter65Ile","c.193_194delTG","frameshift_variant","lc_lof",1,151654,6.59395729753254e-06,0,0,0,6760,0,0,0,24578,0,0,0,8388,0,0,1,10780,0,0,0,16802,0,0,0,57478,0,0,0,4332,0,0,0,22536,0,0]
["B3GALT5","ENSG00000183778",21,41033390,"rs368740513","T","TC","gnomAD_Exomes","PASS","NA","p.Arg303ProfsTer22","p.Arg303ProfsTer22","c.907dupC","frameshift_variant","lc_lof",1,172878,5.784426011406889e-06,0,0,0,14106,0,0,0,19822,0,0,0,3402,0,0,0,15608,0,0,0,17020,0,0,1,84872,0,0,0,3912,0,0,0,14136,0,0]
["B3GALT5","ENSG00000183778",21,41033193,"rs1338605430","TC","T","gnomAD_Genomes","NA","PASS","p.Pro237HisfsTer17","p.Pro237HisfsTer17","c.710delC","frameshift_variant","lc_lof",1,31398,3.18491623670297e-05,0,0,0,8708,0,0,0,848,0,0,0,290,0,0,0,1558,0,0,0,3474,0,0,1,15432,0,0,0,1088,0,0,0,0,0,0]
["B3GALT5","ENSG00000183778",21,41033281,"rs778660833","C","CT","gnomAD_Genomes","NA","PASS","p.Pro268SerfsTer57","p.Pro268SerfsTer57","c.801dupT","frameshift_variant","lc_lof",1,31376,3.18714941356451e-05,0,0,0,8706,0,0,0,848,0,0,0,290,0,0,1,1558,0,0,0,3470,0,0,0,15420,0,0,0,1084,0,0,0,0,0,0]
["B3GALT5","ENSG00000183778",21,41033393,"rs768270855","C","CG","gnomAD_Genomes","NA","PASS","p.Glu305GlyfsTer20","p.Glu305GlyfsTer20","c.913dupG","frameshift_variant","lc_lof",1,31392,3.1855249745158005e-05,0,0,1,8708,0,0,0,846,0,0,0,290,0,0,0,1560,0,0,0,3474,0,0,0,15426,0,0,0,1088,0,0,0,0,0,0]
["B3GALT5","ENSG00000183778",21,41033393,"rs768270855","CGGGGGGAAGATTG","C","gnomAD_Genomes","NA","PASS","p.Arg303LeufsTer25","p.Arg303LeufsTer25","c.908_920delGGGGGGAAGATTG","frameshift_variant","lc_lof",1,31392,3.1855249745158005e-05,0,0,1,8708,0,0,0,846,0,0,0,290,0,0,0,1560,0,0,0,3474,0,0,0,15426,0,0,0,1088,0,0,0,0,0,0]
["B3GNT4","ENSG00000176383",12,122689196,"rs1049444784","C","T","gnomAD_Exomes","PASS","NA","p.Gln11Ter","p.Gln11Ter","c.31C>T","stop_gained","lof_flag",1,249742,4.00413226449696e-06,0,0,0,16134,0,0,0,34552,0,0,0,10042,0,0,0,18366,0,0,0,21588,0,0,1,112348,0,0,0,6114,0,0,0,30598,0,0]
["B3GNT4","ENSG00000176383",12,122689210,"rs1379629516","T","TA","gnomAD_Exomes","PASS","NA","p.Arg16LysfsTer69","p.Arg16LysfsTer69","c.46dupA","frameshift_variant","lof_flag",1,248984,4.01632233396524e-06,0,0,0,16070,0,0,0,34522,0,0,0,10028,0,0,0,18362,0,0,0,21536,0,0,1,111776,0,0,0,6092,0,0,0,30598,0,0]
["B3GNT4","ENSG00000176383",12,122689218,"rs1160264554","G","GC","gnomAD_Exomes","PASS","NA","p.Leu19ProfsTer66","p.Leu19ProfsTer66","c.55dupC","frameshift_variant","lof_flag",1,248624,4.02213784670828e-06,0,0,0,16016,0,0,0,34490,0,0,0,10028,0,0,0,18348,0,0,0,21516,0,0,0,111552,0,0,0,6088,0,0,1,30586,0,0]
["B3GNT4","ENSG00000176383",12,122690859,"rs765311215","T","TTGCAGGGACCGGCGATGCTC","gnomAD_Exomes","PASS","NA","c.68_87dupGACCGGCGATGCTCTGCAGG","p.Leu30AspfsTer27","c.68_87dupGACCGGCGATGCTCTGCAGG","splice_region_variant","lc_lof,os_lof",4,205120,1.9500780031201204e-05,0,0,1,15822,0,0,0,29804,0,0,1,5980,0,0,0,17734,0,0,0,15228,0,0,2,94408,0,0,0,5020,0,0,0,21124,0,0]
["B3GNT4","ENSG00000176383",12,122693310,"rs773973142","ACT","A","gnomAD_Exomes","PASS","NA","p.Glu174ValfsTer?","p.Glu174ValfsTer?","c.519_520delAG","frameshift_variant","lc_lof,lof_flag",3,142138,2.1106248856744803e-05,0,0,0,6918,0,0,0,24634,0,0,0,8354,0,0,0,10948,0,0,0,7254,0,0,3,57078,0,0,0,4366,0,0,0,22586,0,0]
["B3GNT4","ENSG00000176383",12,122691927,"rs769032667","C","T","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Gln377Ter","p.Gln377Ter","c.1129C>T","stop_gained","lc_lof",7,231590,3.02258301308347e-05,0,0,0,23586,0,0,2,27122,0,0,0,5730,0,0,0,18624,0,0,0,21438,0,0,2,108532,0,0,0,5754,0,0,3,20804,0,0]
["B3GNT4","ENSG00000176383",12,122691861,"rs769085783","G","T","gnomAD_Exomes","PASS","NA","p.Glu355Ter","p.Glu355Ter","c.1063G>T","stop_gained","lc_lof",1,249538,4.00740568570719e-06,0,0,0,16198,0,0,0,34352,0,0,0,9916,0,0,0,18374,0,0,0,21562,0,0,0,112668,0,0,0,6082,0,0,1,30386,0,0]
["B3GNT4","ENSG00000176383",12,122692957,"rs780949034","C","A","gnomAD_Exomes","PASS","NA","p.Glu231Ter","p.Glu231Ter","c.691G>T","stop_gained","lc_lof",1,249394,4.00971956021396e-06,0,0,0,16138,0,0,0,34550,0,0,0,9988,0,0,0,18368,0,0,0,21578,0,0,1,112090,0,0,0,6094,0,0,0,30588,0,0]
["B3GNT4","ENSG00000176383",12,122692940,"rs754515684","CAGGT","C","gnomAD_Exomes","PASS","NA","p.Tyr235CysfsTer31","p.Tyr235CysfsTer31","c.704_707delACCT","frameshift_variant","lc_lof",3,249064,1.2045096842578601e-05,0,0,0,16120,0,0,0,34532,0,0,0,9986,0,0,0,18370,0,0,0,21522,0,0,3,111872,0,0,0,6098,0,0,0,30564,0,0]
["B3GNT4","ENSG00000176383",12,122691875,"rs972895624","G","GTGGGCACTGGTGACAGATGAGGGGCTCAAGT","gnomAD_Exomes","PASS","NA","p.Cys370LeufsTer7","p.Cys370LeufsTer7","c.1078_1108dupTGGGCACTGGTGACAGATGAGGGGCTCAAGT","frameshift_variant","lc_lof",1,246330,4.0595948524337304e-06,0,0,0,16124,0,0,0,33856,0,0,0,9562,0,0,0,18322,0,0,0,21424,0,0,1,111094,0,0,0,5970,0,0,0,29978,0,0]
["B3GNT4","ENSG00000176383",12,122691880,"rs764070243","C","CACTGGTGACAGATGAGGGGCTCAAGTGTGCAG","gnomAD_Exomes","PASS","NA","p.Ala372AspfsTer3","p.Ala372AspfsTer3","c.1083_1114dupACTGGTGACAGATGAGGGGCTCAAGTGTGCAG","frameshift_variant","lc_lof",1,245058,4.08066661769867e-06,0,0,0,16114,0,0,1,33698,0,0,0,9392,0,0,0,18302,0,0,0,21356,0,0,0,110504,0,0,0,5936,0,0,0,29756,0,0]
["B3GNT4","ENSG00000176383",12,122691890,"rs765042193","A","AG","gnomAD_Exomes","PASS","NA","p.Asp365GlyfsTer2","p.Asp365GlyfsTer2","c.1093dupG","frameshift_variant","lc_lof",1,241364,4.1431199350358805e-06,0,0,0,16028,0,0,0,33222,0,0,0,9034,0,0,0,18256,0,0,0,21124,0,0,1,108750,0,0,0,5816,0,0,0,29134,0,0]
["B3GNT4","ENSG00000176383",12,122691909,"rs1386751220","GC","G","gnomAD_Exomes","PASS","NA","p.Ala371GlufsTer27","p.Ala371GlufsTer27","c.1112delC","frameshift_variant","lc_lof",1,225234,4.43982702433913e-06,0,0,0,15660,0,0,0,30604,0,0,0,7422,0,0,0,17892,0,0,0,19978,0,0,0,102328,0,0,0,5338,0,0,1,26012,0,0]
["B3GNT4","ENSG00000176383",12,122691923,"rs1458374652","AC","A","gnomAD_Exomes","PASS","NA","p.Gln377SerfsTer21","p.Gln377SerfsTer21","c.1129delC","frameshift_variant","lc_lof",1,202832,4.9301885304094e-06,0,0,1,14972,0,0,0,26512,0,0,0,5608,0,0,0,17128,0,0,0,18216,0,0,0,94234,0,0,0,4754,0,0,0,21408,0,0]
["B3GNT4","ENSG00000176383",12,122692942,"rs766996092","G","GGT","gnomAD_Exomes","PASS","NA","p.Leu236ThrfsTer32","p.Leu236ThrfsTer32","c.704_705dupAC","frameshift_variant","lc_lof",1,249134,4.01390416402418e-06,0,0,0,16122,0,0,0,34532,0,0,0,9984,0,0,0,18368,0,0,0,21524,0,0,1,111936,0,0,0,6100,0,0,0,30568,0,0]
["B3GNT4","ENSG00000176383",12,122692967,"rs749658125","C","CCGCTCCTCCCCTTCCT","gnomAD_Exomes","PASS","NA","p.Ala228GlyfsTer7","p.Ala228GlyfsTer7","c.665_680dupAGGAAGGGGAGGAGCG","frameshift_variant","lc_lof",1,249708,4.00467746327711e-06,0,0,0,16156,0,0,1,34550,0,0,0,10016,0,0,0,18376,0,0,0,21602,0,0,0,112316,0,0,0,6102,0,0,0,30590,0,0]
["B3GNT4","ENSG00000176383",12,122692971,"rs771450082","T","TC","gnomAD_Exomes","PASS","NA","p.Glu226GlyfsTer4","p.Glu226GlyfsTer4","c.676dupG","frameshift_variant","lc_lof",1,249870,4.002081082162719e-06,0,0,0,16172,0,0,0,34554,0,0,0,10026,0,0,0,18378,0,0,0,21610,0,0,1,112438,0,0,0,6104,0,0,0,30588,0,0]
["B3GNT4","ENSG00000176383",12,122692985,"rs992760605","CTG","C","gnomAD_Exomes","PASS","NA","p.Gln221GlyfsTer8","p.Gln221GlyfsTer8","c.661_662delCA","frameshift_variant","lc_lof",1,250296,3.99526960079266e-06,0,0,0,16198,0,0,0,34566,0,0,0,10034,0,0,0,18386,0,0,0,21610,0,0,1,112778,0,0,0,6122,0,0,0,30602,0,0]
["B3GNT4","ENSG00000176383",12,122693012,"rs760001142","CTG","C","gnomAD_Genomes","NA","PASS","p.Gln212AspfsTer17","p.Gln212AspfsTer17","c.634_635delCA","frameshift_variant","lc_lof",1,31404,3.18430773149917e-05,0,0,0,8714,0,0,0,848,0,0,0,290,0,0,1,1558,0,0,0,3474,0,0,0,15434,0,0,0,1086,0,0,0,0,0,0]
["B4GALT2","ENSG00000117411",1,44450732,"rs1448203083","G","T","gnomAD_Exomes","PASS","NA","c.827+5G>T",null,"c.827+5G>T","splice_region_variant","lc_lof,os_lof",1,249916,4.00134445173578e-06,0,0,0,16220,0,0,1,34530,0,0,0,10052,0,0,0,18376,0,0,0,21198,0,0,0,112834,0,0,0,6100,0,0,0,30606,0,0]
["B4GALT2","ENSG00000117411",1,44456105,"rs778603474","GC","G","gnomAD_Exomes","PASS","NA","p.Pro399LeufsTer?","p.Pro399LeufsTer?","c.1196delC","frameshift_variant","lc_lof",1,251464,3.97671237234753e-06,0,0,0,16256,0,0,0,34592,0,0,0,10078,0,0,0,18394,0,0,0,21644,0,0,1,113746,0,0,0,6138,0,0,0,30616,0,0]
["BAG5","ENSG00000166170",14,104028296,"rs770053252","G","A","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Gln17Ter","p.Gln17Ter","c.49C>T","stop_gained","lof_flag",4,280888,1.4240551394150002e-05,0,0,0,24194,0,0,0,35374,0,0,0,10354,0,0,0,19536,0,0,0,25036,0,0,4,128646,0,0,0,7146,0,0,0,30602,0,0]
["BAG5","ENSG00000166170",14,104028277,"rs748046116","AT","A","gnomAD_Exomes","PASS","NA","p.Ile23LeufsTer39","p.Ile23LeufsTer39","c.67delA","frameshift_variant","lof_flag",1,249508,4.00788752264457e-06,0,0,0,15482,0,0,0,34526,0,0,0,10068,0,0,0,17974,0,0,0,21562,0,0,0,113232,0,0,0,6062,0,0,1,30602,0,0]
["BAG5","ENSG00000166170",14,104028436,"rs1201666953","C","T","gnomAD_Genomes","NA","PASS","c.-29+1G>A",null,"c.-29+1G>A","splice_donor_variant","lc_lof",1,31380,3.1867431485022305e-05,0,0,0,8718,0,0,0,846,0,0,0,290,0,0,0,1560,0,0,0,3474,0,0,1,15406,0,0,0,1086,0,0,0,0,0,0]
["BAG5","ENSG00000166170",14,104026192,"rs1263432113","TAGCTGAGAATATTC","T","gnomAD_Exomes","PASS","NA","p.Asn474SerfsTer6","p.Asn474SerfsTer6","c.1419_1432delGAATATTCTCAGCT","frameshift_variant","lc_lof",1,251158,3.981557426002759e-06,0,0,0,16250,0,0,0,34532,0,0,0,10074,0,0,0,18394,0,0,0,21588,0,0,0,113574,0,0,0,6132,0,0,1,30614,0,0]
["BAZ2A","ENSG00000076108",12,57004223,"rs1275860577","C","A","gnomAD_Exomes","PASS","NA","p.Glu241Ter","p.Glu241Ter","c.720G>T","stop_gained","lof_flag",2,248980,8.0327737167644e-06,0,0,0,15470,0,0,0,34474,0,0,0,10050,0,0,1,17968,0,0,0,21542,0,0,0,112850,0,0,0,6040,0,0,1,30586,0,0]
["BAZ2A","ENSG00000076108",12,57008913,"rs1357249498","C","G","gnomAD_Exomes","PASS","NA","c.526-1G>C",null,"c.526-1G>C","splice_acceptor_variant","lof_flag",1,248710,4.02074705480278e-06,0,0,0,15448,0,0,1,34440,0,0,0,10044,0,0,0,17958,0,0,0,21528,0,0,0,112718,0,0,0,6036,0,0,0,30538,0,0]
["BAZ2A","ENSG00000076108",12,57003949,"rs1205144561","G","A","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Gln268Ter","p.Gln268Ter","c.801C>T","stop_gained","lc_lof",2,280634,7.126720212091189e-06,0,0,2,24182,0,0,0,35374,0,0,0,10352,0,0,0,19536,0,0,0,25024,0,0,0,128428,0,0,0,7136,0,0,0,30602,0,0]
["BAZ2A","ENSG00000076108",12,57003955,"rs1187141010","G","A","gnomAD_Genomes","NA","PASS","p.Gln266Ter","p.Gln266Ter","c.795C>T","stop_gained","lc_lof",1,31384,3.1863369869997405e-05,0,0,0,8708,0,0,1,848,0,0,0,290,0,0,0,1560,0,0,0,3474,0,0,0,15420,0,0,0,1084,0,0,0,0,0,0]
["BAZ2A","ENSG00000076108",12,56992434,"rs771779423","C","A","gnomAD_Exomes","PASS","NA","p.Glu1896Ter","p.Glu1896Ter","c.5686G>T","stop_gained","lc_lof",1,248704,4.0208440555841494e-06,0,0,0,15436,0,0,0,34494,0,0,0,10046,0,0,0,17966,0,0,0,21508,0,0,1,112688,0,0,0,6040,0,0,0,30526,0,0]
["BAZ2A","ENSG00000076108",12,57003929,"rs767752969","C","T","gnomAD_Exomes","PASS","NA","p.Trp274Ter","p.Trp274Ter","c.821G>A","stop_gained","lc_lof",1,249258,4.01190734098805e-06,0,0,1,15484,0,0,0,34524,0,0,0,10062,0,0,0,17976,0,0,0,21548,0,0,0,113010,0,0,0,6052,0,0,0,30602,0,0]
["BCAS4","ENSG00000124243",20,49411534,"rs1201761931","C","T","gnomAD_Exomes","PASS","NA","p.Gln2Ter","p.Gln2Ter","c.4C>T","stop_gained","lof_flag",1,25358,3.943528669453431e-05,0,0,0,422,0,0,0,4566,0,0,0,1596,0,0,0,472,0,0,0,2018,0,0,0,9204,0,0,0,692,0,0,1,6388,0,0]
["BCAS4","ENSG00000124243",20,49411601,"rs1352870774","CG","C","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Asp25ThrfsTer6","p.Asp25ThrfsTer6","c.73delG","frameshift_variant","lof_flag",3,130556,2.2978645179080204e-05,0,0,0,10368,0,0,0,20816,0,0,0,7380,0,0,0,6684,0,0,0,10894,0,0,3,51472,0,0,0,4048,0,0,0,18894,0,0]
["BCAS4","ENSG00000124243",20,49493052,"rs149433489","C","T","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Arg206Ter","p.Arg206Ter","c.616C>T","stop_gained","lc_lof",59,282050,0.000209182769013,0,0,2,24952,0,0,0,35422,0,0,0,10348,0,0,1,19940,0,0,1,25108,0,0,54,128454,0,0,1,7214,0,0,0,30612,0,0]
["BCAS4","ENSG00000124243",20,49493110,"rs760187123","C","T","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Gln148Ter","p.Gln148Ter","c.442C>T","stop_gained","lc_lof",7,282778,2.47544009788597e-05,0,0,0,24968,0,0,1,35438,0,0,0,10370,0,0,0,19950,0,0,0,25120,0,0,6,129094,0,0,0,7222,0,0,0,30616,0,0]
["BEND4","ENSG00000188848",4,42154535,"rs1021999517","GGGAAAGCGAGGACCTGGA","G","gnomAD_Genomes","NA","PASS","c.-238_-234+13delTCCAGGTCCTCGCTTTCC",null,"c.-238_-234+13delTCCAGGTCCTCGCTTTCC","splice_donor_variant","lc_lof",1,31314,3.19345979434119e-05,0,0,0,8684,0,0,0,846,0,0,0,290,0,0,0,1560,0,0,0,3474,0,0,1,15374,0,0,0,1086,0,0,0,0,0,0]
["BIRC2","ENSG00000110330",11,102248485,"rs747833581","A","G","gnomAD_Exomes","PASS","NA","c.1621+4A>G",null,"c.1621+4A>G","splice_region_variant","lc_lof,os_lof",2,230378,8.68138450720121e-06,0,0,0,15576,0,0,0,27402,0,0,0,9266,0,0,0,17034,0,0,0,21362,0,0,2,108254,0,0,0,5642,0,0,0,25842,0,0]
["BIRC2","ENSG00000110330",11,102220608,"rs1376496609","G","C","gnomAD_Exomes","PASS","NA","c.-40-1G>C",null,"c.-40-1G>C","splice_acceptor_variant","lc_lof",1,248178,4.0293660195504795e-06,0,0,1,16234,0,0,0,34264,0,0,0,9786,0,0,0,18374,0,0,0,21298,0,0,0,112214,0,0,0,6048,0,0,0,29960,0,0]
["BTF3","ENSG00000145741",5,72798428,"rs747786123","C","G","gnomAD_Exomes","PASS","NA","c.315+2C>G",null,"c.315+2C>G","splice_donor_variant","segdup,lc_lof,lof_flag",3,220738,1.3590772771339802e-05,0,0,1,15176,0,0,1,25192,0,0,0,8188,0,0,0,16576,0,0,0,20794,0,0,1,105092,0,0,0,5196,0,0,0,24524,0,0]
["BTN3A3","ENSG00000111801",6,26443812,"rs1292688863","G","GC","gnomAD_Exomes","PASS","NA","p.Ser5LysfsTer42","p.Ser5LysfsTer42","c.11dupC","frameshift_variant","segdup,lof_flag",1,251422,3.97737668143599e-06,0,0,0,16256,0,0,1,34580,0,0,0,10078,0,0,0,18392,0,0,0,21646,0,0,0,113722,0,0,0,6138,0,0,0,30610,0,0]
["BTN3A3","ENSG00000111801",6,26448987,"rs761070382","G","A","gnomAD_Exomes","PASS","NA","c.964+5G>A",null,"c.964+5G>A","splice_region_variant","segdup,lc_lof,os_lof",5,251472,1.9882929312209702e-05,0,0,0,16256,0,0,0,34590,0,0,0,10080,0,0,0,18392,0,0,0,21648,0,0,0,113750,0,0,0,6140,0,0,5,30616,0,0]
["BTN3A3","ENSG00000111801",6,26443887,"rs992469756","G","C","gnomAD_Exomes","PASS","NA","p.Ala29Pro","p.Ala29Pro","c.85G>C","missense_variant","segdup,lc_lof,os_lof",5,251328,1.98943213649096e-05,0,0,0,16254,0,0,5,34564,0,0,0,10078,0,0,0,18388,0,0,0,21644,0,0,0,113654,0,0,0,6134,0,0,0,30612,0,0]
["BTN3A3","ENSG00000111801",6,26451959,"rs759916211","C","T","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Gln359Ter","p.Gln359Ter","c.1075C>T","stop_gained","segdup,lc_lof",10,282750,3.5366931918656e-05,0,0,0,24970,0,0,0,35428,0,0,0,10368,0,0,0,19952,0,0,5,25094,0,0,3,129100,0,0,2,7222,0,0,0,30616,0,0]
["BTN3A3","ENSG00000111801",6,26450338,"rs747609742","G","A","gnomAD_Exomes","PASS","NA","p.Trp332Ter","p.Trp332Ter","c.995G>A","stop_gained","segdup,lc_lof",1,251158,3.981557426002759e-06,0,0,0,16256,0,0,0,34566,0,0,0,10080,0,0,0,18392,0,0,0,21644,0,0,1,113478,0,0,0,6128,0,0,0,30614,0,0]
["BTN3A3","ENSG00000111801",6,26452023,"rs893247462","G","A","gnomAD_Exomes","PASS","NA","p.Trp380Ter","p.Trp380Ter","c.1139G>A","stop_gained","segdup,lc_lof",1,251482,3.97642773637875e-06,0,0,0,16256,0,0,0,34588,0,0,0,10080,0,0,1,18394,0,0,0,21648,0,0,0,113762,0,0,0,6138,0,0,0,30616,0,0]
["BTN3A3","ENSG00000111801",6,26452105,"rs754410999","G","A","gnomAD_Exomes","PASS","NA","p.Trp407Ter","p.Trp407Ter","c.1221G>A","stop_gained","segdup,lc_lof",1,251446,3.9769970490681895e-06,0,0,0,16256,0,0,0,34580,0,0,0,10080,0,0,0,18390,0,0,0,21642,0,0,1,113744,0,0,0,6138,0,0,0,30616,0,0]
["BTN3A3","ENSG00000111801",6,26452149,"rs768568912","G","A","gnomAD_Exomes","PASS","NA","p.Trp422Ter","p.Trp422Ter","c.1265G>A","stop_gained","segdup,lc_lof",6,251440,2.3862551702195402e-05,0,0,0,16252,0,0,0,34582,0,0,0,10080,0,0,6,18394,0,0,0,21642,0,0,0,113738,0,0,0,6138,0,0,0,30614,0,0]
["BTN3A3","ENSG00000111801",6,26452172,"rs937910695","G","T","gnomAD_Exomes","PASS","NA","p.Gly430Ter","p.Gly430Ter","c.1288G>T","stop_gained","segdup,lc_lof",1,251450,3.9769337840525e-06,0,0,0,16256,0,0,0,34586,0,0,0,10080,0,0,0,18390,0,0,0,21644,0,0,1,113746,0,0,0,6132,0,0,0,30616,0,0]
["BTN3A3","ENSG00000111801",6,26452613,"rs1176887337","C","T","gnomAD_Exomes","PASS","NA","p.Gln577Ter","p.Gln577Ter","c.1729C>T","stop_gained","segdup,lc_lof",3,242726,1.2359615368769702e-05,0,0,0,16144,0,0,0,34200,0,0,0,9956,0,0,0,18284,0,0,0,14982,0,0,3,112644,0,0,0,6038,0,0,0,30478,0,0]
["BTN3A3","ENSG00000111801",6,26443797,"rs770598661","G","A","gnomAD_Exomes","PASS","NA","c.-5-1G>A",null,"c.-5-1G>A","splice_acceptor_variant","segdup,lc_lof",1,251346,3.97857932889324e-06,0,0,0,16252,0,0,0,34574,0,0,0,10078,0,0,0,18390,0,0,0,21628,0,0,0,113684,0,0,0,6132,0,0,1,30608,0,0]
["BTN3A3","ENSG00000111801",6,26443868,"rs751432157","G","T","gnomAD_Exomes","PASS","NA","c.-60-1G>T",null,"c.-60-1G>T","splice_acceptor_variant","segdup,lc_lof",1,251436,3.97715522041394e-06,0,0,0,16256,0,0,0,34588,0,0,0,10078,0,0,0,18392,0,0,0,21648,0,0,0,113724,0,0,0,6136,0,0,1,30614,0,0]
["BTN3A3","ENSG00000111801",6,26450349,"rs1225049968","CT","C","gnomAD_Genomes","NA","PASS","p.Leu336ProfsTer7","p.Leu336ProfsTer7","c.1007delT","frameshift_variant","segdup,lc_lof",1,31386,3.1861339450710506e-05,0,0,1,8712,0,0,0,846,0,0,0,288,0,0,0,1558,0,0,0,3472,0,0,0,15422,0,0,0,1088,0,0,0,0,0,0]
["BTN3A3","ENSG00000111801",6,26452437,"rs1400975696","TAG","T","gnomAD_Genomes","NA","PASS","p.Ser520PhefsTer5","p.Ser520PhefsTer5","c.1558_1559delAG","frameshift_variant","segdup,lc_lof",1,31384,3.1863369869997405e-05,0,0,0,8700,0,0,0,848,0,0,0,290,0,0,0,1560,0,0,0,3476,0,0,1,15422,0,0,0,1088,0,0,0,0,0,0]
["BTN3A3","ENSG00000111801",6,26451937,"rs774658597","CA","C","gnomAD_Exomes","PASS","NA","p.Ile352SerfsTer74","p.Ile352SerfsTer74","c.1054delA","frameshift_variant","segdup,lc_lof",1,250850,3.98644608331672e-06,0,0,0,16254,0,0,0,34560,0,0,0,10044,0,0,0,18392,0,0,0,21604,0,0,0,113268,0,0,1,6126,0,0,0,30602,0,0]
["BTN3A3","ENSG00000111801",6,26452144,"rs1181854332","AG","A","gnomAD_Exomes","PASS","NA","p.Gly421ValfsTer5","p.Gly421ValfsTer5","c.1262delG","frameshift_variant","segdup,lc_lof",1,251454,3.97687052104958e-06,0,0,0,16256,0,0,1,34582,0,0,0,10080,0,0,0,18394,0,0,0,21644,0,0,0,113742,0,0,0,6140,0,0,0,30616,0,0]
["BTN3A3","ENSG00000111801",6,26452203,"rs760278685","A","AT","gnomAD_Exomes","PASS","NA","p.Lys441Ter","p.Lys441Ter","c.1320dupT","frameshift_variant","segdup,lc_lof",1,251432,3.9772184924750995e-06,0,0,0,16244,0,0,0,34590,0,0,0,10080,0,0,0,18392,0,0,0,21642,0,0,1,113740,0,0,0,6130,0,0,0,30614,0,0]
["BTN3A3","ENSG00000111801",6,26452214,"rs765941528","GCT","G","gnomAD_Exomes","PASS","NA","p.Leu445HisfsTer2","p.Leu445HisfsTer2","c.1334_1335delTC","frameshift_variant","segdup,lc_lof",1,251398,3.97775638628788e-06,0,0,0,16228,0,0,0,34590,0,0,0,10080,0,0,0,18390,0,0,0,21642,0,0,1,113726,0,0,0,6126,0,0,0,30616,0,0]
["BTN3A3","ENSG00000111801",6,26452246,"rs753578118","TC","T","gnomAD_Exomes","PASS","NA","p.Pro455LeufsTer48","p.Pro455LeufsTer48","c.1364delC","frameshift_variant","segdup,lc_lof",11,251448,4.37466195793961e-05,0,0,0,16254,0,0,9,34588,0,0,0,10076,0,0,0,18392,0,0,0,21632,0,0,1,113756,0,0,1,6134,0,0,0,30616,0,0]
["BTN3A3","ENSG00000111801",6,26452412,"rs769838075","AC","A","gnomAD_Exomes","PASS","NA","p.Ile511PhefsTer8","p.Ile511PhefsTer8","c.1530delC","frameshift_variant","segdup,lc_lof",1,251404,3.97766145327839e-06,0,0,0,16256,0,0,0,34574,0,0,0,10076,0,0,0,18390,0,0,0,21628,0,0,1,113736,0,0,0,6132,0,0,0,30612,0,0]
["BTN3A3","ENSG00000111801",6,26452415,"rs376332419","A","ATT","gnomAD_Exomes","PASS","NA","p.Cys512PhefsTer8","p.Cys512PhefsTer8","c.1533_1534dupTT","frameshift_variant","segdup,lc_lof",1,251392,3.977851323828919e-06,0,0,0,16256,0,0,0,34572,0,0,0,10072,0,0,1,18388,0,0,0,21626,0,0,0,113732,0,0,0,6134,0,0,0,30612,0,0]
["BTN3A3","ENSG00000111801",6,26452564,"rs752520509","TGG","T","gnomAD_Exomes","PASS","NA","p.Gly561SerfsTer2","p.Gly561SerfsTer2","c.1681_1682delGG","frameshift_variant","segdup,lc_lof",1,249606,4.00631395078644e-06,0,0,0,16232,0,0,0,34568,0,0,0,10080,0,0,0,18380,0,0,0,19942,0,0,1,113674,0,0,0,6118,0,0,0,30612,0,0]
["BZW1","ENSG00000082153",2,201686868,"rs764692654","AGAATCT","A","gnomAD_Exomes","PASS","NA","c.1333_1338delTCTGAA","p.Ser445_Glu446del","c.1333_1338delTCTGAA","splice_acceptor_variant","segdup,lc_lof",4,236330,1.69254855498667e-05,0,0,0,14532,0,0,1,33310,0,0,0,9674,0,0,0,17460,0,0,0,21188,0,0,2,105206,0,0,0,5866,0,0,1,29094,0,0]
["C14orf178","ENSG00000197734",14,78234808,"rs1435346082","G","A","gnomAD_Genomes","NA","PASS","p.Glu30Lys","p.Glu30Lys","c.88G>A","missense_variant","segdup,lc_lof,os_lof",1,31378,3.1869462680859205e-05,0,0,1,8714,0,0,0,848,0,0,0,290,0,0,0,1558,0,0,0,3466,0,0,0,15416,0,0,0,1086,0,0,0,0,0,0]
["C14orf178","ENSG00000197734",14,78235975,"rs770605157","C","G","gnomAD_Exomes","PASS","NA","p.Ser108Ter","p.Ser108Ter","c.323C>G","stop_gained","lc_lof",1,247688,4.037337295307e-06,0,0,0,16244,0,0,0,34394,0,0,0,9982,0,0,0,18386,0,0,0,21546,0,0,1,110820,0,0,0,6080,0,0,0,30236,0,0]
["C14orf178","ENSG00000197734",14,78235822,"rs774904177","CT","C","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Ile59LeufsTer4","p.Ile59LeufsTer4","c.171delT","frameshift_variant","lc_lof",83,185574,0.000447260930949,0,0,1,17800,0,0,5,25190,0,0,0,8828,0,0,0,13042,0,0,21,17788,0,0,53,74660,0,0,3,5488,0,0,0,22778,0,0]
["C14orf178","ENSG00000197734",14,78235897,"rs754115239","AT","A","gnomAD_Exomes","PASS","NA","p.Ser83LeufsTer4","p.Ser83LeufsTer4","c.247delT","frameshift_variant","lc_lof",2,240940,8.30082178135636e-06,0,0,0,15858,0,0,0,33604,0,0,0,9852,0,0,0,18038,0,0,0,21290,0,0,0,107118,0,0,0,5982,0,0,2,29198,0,0]
["C3orf33","ENSG00000174928",3,155485460,"rs759661578","T","C","gnomAD_Exomes","PASS","NA","c.194-2A>G",null,"c.194-2A>G","splice_acceptor_variant","lof_flag",1,201190,4.97042596550524e-06,0,0,0,12456,0,0,0,24728,0,0,0,8684,0,0,0,14700,0,0,0,20068,0,0,0,94138,0,0,1,4838,0,0,0,21578,0,0]
["C3orf33","ENSG00000174928",3,155493485,"rs1456965513","C","T","gnomAD_Exomes","PASS","NA","c.193+5G>A",null,"c.193+5G>A","splice_region_variant","lc_lof,os_lof",1,223682,4.47063241566152e-06,0,0,0,14424,0,0,0,26310,0,0,0,9288,0,0,0,16264,0,0,0,21158,0,0,1,106272,0,0,0,5316,0,0,0,24650,0,0]
["C3orf33","ENSG00000174928",3,155485297,"rs1249410001","C","G","gnomAD_Genomes","NA","PASS","c.354+1G>C",null,"c.354+1G>C","splice_donor_variant","lc_lof",1,31362,3.1885721573879204e-05,0,0,1,8714,0,0,0,848,0,0,0,290,0,0,0,1558,0,0,0,3442,0,0,0,15426,0,0,0,1084,0,0,0,0,0,0]
["C3orf33","ENSG00000174928",3,155481397,"rs753103866","TA","T","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Tyr222MetfsTer8","p.Tyr222MetfsTer8","c.664delT","frameshift_variant","lc_lof",4,258846,1.54532038354852e-05,0,0,0,23678,0,0,0,29372,0,0,0,9388,0,0,0,17920,0,0,0,24556,0,0,4,122184,0,0,0,6546,0,0,0,25202,0,0]
["C6orf203","ENSG00000130349",6,107372363,"rs782308531","A","ACT","gnomAD_Exomes","PASS","NA","p.Glu222LeufsTer16","p.Glu222LeufsTer16","c.662_663dupCT","frameshift_variant","lc_lof",2,251444,7.95405736466171e-06,0,0,0,16256,0,0,0,34574,0,0,0,10080,0,0,0,18394,0,0,0,21648,0,0,2,113744,0,0,0,6134,0,0,0,30614,0,0]
["C6orf203","ENSG00000130349",6,107372348,null,"GTGTT","G","gnomAD_Exomes","PASS","NA","p.Phe217LysfsTer19","p.Phe217LysfsTer19","c.649_652delTTTG","frameshift_variant","lc_lof",1,251454,3.97687052104958e-06,0,0,0,16256,0,0,0,34586,0,0,0,10080,0,0,0,18394,0,0,0,21648,0,0,1,113740,0,0,0,6134,0,0,0,30616,0,0]
["CACYBP","ENSG00000116161",1,174977831,"rs1441090212","C","T","gnomAD_Exomes","PASS","NA","p.Cys173Cys","c.519C>T(p.=)","c.519C>T","synonymous_variant","segdup,mnv",1,251032,3.9835558813218994e-06,0,0,0,16228,0,0,1,34482,0,0,0,10066,0,0,0,18360,0,0,0,21642,0,0,0,113566,0,0,0,6114,0,0,0,30574,0,0]
["CACYBP","ENSG00000116161",1,174979178,"rs1415973579","CAA","C","gnomAD_Exomes","PASS","NA","p.Lys220AlafsTer12","p.Lys220AlafsTer12","c.651_652delAA","frameshift_variant","segdup,lc_lof",1,250858,3.9863189533520895e-06,0,0,0,16250,0,0,0,34464,0,0,0,10070,0,0,0,18386,0,0,0,21642,0,0,0,113366,0,0,0,6118,0,0,1,30562,0,0]
["CACYBP","ENSG00000116161",1,174968827,"rs892574114","T","G","gnomAD_Genomes","NA","PASS","c.-115+2T>G",null,"c.-115+2T>G","splice_donor_variant","lc_lof",1,31386,3.1861339450710506e-05,0,0,1,8708,0,0,0,846,0,0,0,288,0,0,0,1560,0,0,0,3476,0,0,0,15420,0,0,0,1088,0,0,0,0,0,0]
["CAMKK1","ENSG00000004660",17,3785659,"rs1265182084","G","A","gnomAD_Exomes","PASS","NA","p.Gln231Ter","p.Gln231Ter","c.691C>T","stop_gained","lof_flag",2,251308,7.95836185079663e-06,0,0,0,16252,0,0,0,34550,0,0,0,10062,0,0,0,18388,0,0,0,21638,0,0,2,113682,0,0,0,6130,0,0,0,30606,0,0]
["CAMKK1","ENSG00000004660",17,3785553,"rs751203583","G","T","gnomAD_Exomes","PASS","NA","p.Ser266Ter","p.Ser266Ter","c.797C>A","stop_gained","lof_flag",1,249154,4.0135819613572295e-06,0,0,0,16238,0,0,0,34272,0,0,0,9888,0,0,0,18370,0,0,0,21528,0,0,1,112510,0,0,0,6064,0,0,0,30284,0,0]
["CAMKK1","ENSG00000004660",17,3785628,"rs772954283","G","T","gnomAD_Exomes","PASS","NA","p.Ser241Ter","p.Ser241Ter","c.722C>A","stop_gained","lof_flag",1,251448,3.97696541630874e-06,0,0,0,16252,0,0,0,34570,0,0,0,10072,0,0,0,18394,0,0,0,21648,0,0,0,113756,0,0,0,6140,0,0,1,30616,0,0]
["CAMKK1","ENSG00000004660",17,3785645,"rs765872503","CT","C","gnomAD_Exomes","PASS","NA","p.Gln235ArgfsTer5","p.Gln235ArgfsTer5","c.704delA","frameshift_variant","lof_flag",3,251426,1.1931940213024901e-05,0,0,0,16252,0,0,0,34570,0,0,0,10072,0,0,3,18392,0,0,0,21640,0,0,0,113746,0,0,0,6138,0,0,0,30616,0,0]
["CAMKK1","ENSG00000004660",17,3785621,"rs757518609","ATT","A","gnomAD_Exomes","PASS","NA","p.Asn243TyrfsTer11","p.Asn243TyrfsTer11","c.727_728delAA","frameshift_variant","lof_flag",1,251436,3.97715522041394e-06,0,0,0,16252,0,0,0,34568,0,0,0,10072,0,0,0,18394,0,0,0,21648,0,0,1,113746,0,0,0,6140,0,0,0,30616,0,0]
["CAMKK1","ENSG00000004660",17,3769197,"rs1426754135","C","T","gnomAD_Exomes","PASS","NA","c.1445+5G>A",null,"c.1445+5G>A","splice_region_variant","lc_lof,os_lof",1,250788,3.98743161554779e-06,0,0,0,16248,0,0,1,34578,0,0,0,10072,0,0,0,18388,0,0,0,21598,0,0,0,113160,0,0,0,6132,0,0,0,30612,0,0]
["CAMKK1","ENSG00000004660",17,3788622,"rs762569562","C","G","gnomAD_Exomes","PASS","NA","p.Glu120Asp","p.Glu120Asp","c.360G>C","missense_variant","lc_lof,os_lof",1,229942,4.3489227718294194e-06,0,0,0,14444,0,0,1,32726,0,0,0,8380,0,0,0,17948,0,0,0,19600,0,0,0,103596,0,0,0,5572,0,0,0,27676,0,0]
["CBFA2T2","ENSG00000078699",20,32188202,"rs1021024373","C","T","gnomAD_Genomes","NA","PASS","p.Gln8Ter","p.Gln8Ter","c.22C>T","stop_gained","lof_flag",1,31064,3.21916044295648e-05,0,0,0,8640,0,0,0,840,0,0,0,288,0,0,1,1558,0,0,0,3412,0,0,0,15252,0,0,0,1074,0,0,0,0,0,0]
["CBFA2T2","ENSG00000078699",20,32162062,"rs1261708509","G","A","gnomAD_Exomes","PASS","NA","p.Trp19Ter","p.Trp19Ter","c.56G>A","stop_gained","lof_flag",1,251334,3.97876928708412e-06,0,0,0,16256,0,0,0,34592,0,0,0,10074,0,0,1,18390,0,0,0,21648,0,0,0,113626,0,0,0,6134,0,0,0,30614,0,0]
["CBFA2T2","ENSG00000078699",20,32212568,"rs1306091559","A","T","gnomAD_Exomes","PASS","NA","c.720-2A>T",null,"c.720-2A>T","splice_acceptor_variant","lof_flag",1,250598,3.99045483204176e-06,0,0,0,16252,0,0,1,34542,0,0,0,10034,0,0,0,18394,0,0,0,21614,0,0,0,113060,0,0,0,6118,0,0,0,30584,0,0]
["CBFA2T2","ENSG00000078699",20,32162066,"rs938740831","AG","A","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","c.61+1delG",null,"c.61+1delG","frameshift_variant","lof_flag",10,282738,3.5368432966209005e-05,0,0,1,24970,0,0,2,35436,0,0,0,10366,0,0,0,19948,0,0,0,25120,0,0,7,129064,0,0,0,7220,0,0,0,30614,0,0]
["CBFA2T2","ENSG00000078699",20,32211690,"rs1404957192","G","A","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Trp248Ter","p.Trp248Ter","c.744G>A","stop_gained","lc_lof",3,181420,1.65362143093375e-05,0,0,1,15724,0,0,0,25216,0,0,0,8682,0,0,0,12294,0,0,0,20318,0,0,2,71328,0,0,0,5472,0,0,0,22386,0,0]
["CBFA2T2","ENSG00000078699",20,32211632,"rs756022758","CG","C","gnomAD_Exomes","PASS","NA","p.Gly230GlufsTer10","p.Gly230GlufsTer10","c.689delG","frameshift_variant","lc_lof",1,150670,6.637021304838389e-06,0,0,0,7072,0,0,0,24494,0,0,0,8396,0,0,0,10746,0,0,0,16980,0,0,1,56070,0,0,0,4398,0,0,0,22514,0,0]
["CBFA2T2","ENSG00000078699",20,32211700,null,"TC","T","gnomAD_Exomes","PASS","NA","p.Arg253GlufsTer?","p.Arg253GlufsTer?","c.756delC","frameshift_variant","lc_lof",1,150220,6.656903208627349e-06,0,0,0,7080,0,0,0,24284,0,0,0,8366,0,0,0,10710,0,0,0,16982,0,0,1,56092,0,0,0,4386,0,0,0,22320,0,0]
["CBLB","ENSG00000114423",3,105400456,"rs959524273","T","C","gnomAD_Exomes","PASS","NA","c.2297-2A>G",null,"c.2297-2A>G","splice_acceptor_variant","lof_flag",1,251320,3.97899092790068e-06,0,0,0,16252,0,0,0,34584,0,0,0,10074,0,0,0,18356,0,0,0,21638,0,0,1,113668,0,0,0,6132,0,0,0,30616,0,0]
["CBLB","ENSG00000114423",3,105400456,"rs959524273","T","TTCTTTTAATTTC","gnomAD_Exomes","PASS","NA","c.2297-3_2297-2insGAAATTAAAAGA",null,"c.2297-3_2297-2insGAAATTAAAAGA","splice_region_variant","lc_lof,os_lof",1,251320,3.97899092790068e-06,0,0,0,16252,0,0,0,34584,0,0,0,10074,0,0,0,18356,0,0,0,21638,0,0,1,113668,0,0,0,6132,0,0,0,30616,0,0]
["CBLB","ENSG00000114423",3,105400563,"rs1334426727","C","T","gnomAD_Exomes","PASS","NA","c.2296+5G>A",null,"c.2296+5G>A","splice_region_variant","lc_lof,os_lof",1,251068,3.98298468940685e-06,0,0,0,16242,0,0,0,34588,0,0,1,10068,0,0,0,18378,0,0,0,21524,0,0,0,113536,0,0,0,6118,0,0,0,30614,0,0]
["CBLB","ENSG00000114423",3,105586250,"rs1310832437","T","TTA","gnomAD_Exomes","PASS","NA","c.168+2_168+3dupTA",null,"c.168+2_168+3dupTA","splice_region_variant","lc_lof,os_lof",1,250880,3.9859693877551e-06,0,0,0,16256,0,0,0,34592,0,0,0,10072,0,0,0,18394,0,0,0,21648,0,0,1,113164,0,0,0,6138,0,0,0,30616,0,0]
["CBLB","ENSG00000114423",3,105377861,"rs267599521","G","A","gnomAD_Exomes","PASS","NA","p.Arg968Ter","p.Arg968Ter","c.2902C>T","stop_gained","lc_lof",3,251048,1.1949905994072801e-05,0,0,0,16254,0,0,0,34552,0,0,1,10066,0,0,1,18350,0,0,0,21644,0,0,1,113450,0,0,0,6118,0,0,0,30614,0,0]
["CBLB","ENSG00000114423",3,105442869,"rs181286716","C","A","gnomAD_Genomes","NA","PASS","c.*746+1G>T",null,"c.*746+1G>T","splice_donor_variant","lc_lof",3,31366,9.564496588662881e-05,0,0,0,8708,0,0,0,846,0,0,0,290,0,0,3,1558,0,0,0,3474,0,0,0,15408,0,0,0,1082,0,0,0,0,0,0]
["CBLB","ENSG00000114423",3,105588204,null,"TGAGCGTCGGGACCGGGAGCCAAAGCCATCTGGGGCTGAAAGGCGGGACTTCCTGCTTCGCTTACCTTCCTAGTCTTTTGTTTCATAGCAACA","T","gnomAD_Exomes","PASS","NA","c.-42_-15+64delTGTTGCTATGAAACAAAAGACTAGGAAGGTAAGCGAAGCAGGAAGTCCCGCCTTTCAGCCCCAGATGGCTTTGGCTCCCGGTCCCGACGCTC",null,"c.-42_-15+64delTGTTGCTATGAAACAAAAGACTAGGAAGGTAAGCGAAGCAGGAAGTCCCGCCTTTCAGCCCCAGATGGCTTTGGCTCCCGGTCCCGACGCTC","splice_donor_variant","lc_lof",1,146174,6.84116190293759e-06,0,0,0,6720,0,0,0,24540,0,0,0,8346,0,0,0,10710,0,0,0,15270,0,0,0,53826,0,0,1,4234,0,0,0,22528,0,0]
["CBLB","ENSG00000114423",3,105588268,"rs1164017698","C","A","gnomAD_Exomes","PASS","NA","c.-15+1G>T",null,"c.-15+1G>T","splice_donor_variant","lc_lof",1,137082,7.294903780219139e-06,0,0,0,6674,0,0,0,23600,0,0,0,7136,0,0,0,10610,0,0,0,14490,0,0,1,49680,0,0,0,3938,0,0,0,20954,0,0]
["CCDC12","ENSG00000160799",3,46965092,"rs1246860065","C","T","gnomAD_Exomes","PASS","NA","c.345+5G>A",null,"c.345+5G>A","splice_region_variant","lc_lof,os_lof",1,236112,4.23527817307041e-06,0,0,0,15274,0,0,1,32632,0,0,0,9382,0,0,0,17512,0,0,0,20386,0,0,0,106830,0,0,0,5654,0,0,0,28442,0,0]
["CCDC12","ENSG00000160799",3,46963612,"rs1386810663","G","A","gnomAD_Exomes","PASS","NA","p.Gln159Ter","p.Gln159Ter","c.475C>T","stop_gained","lc_lof",2,251452,7.95380430459889e-06,0,0,0,16254,0,0,2,34582,0,0,0,10080,0,0,0,18394,0,0,0,21646,0,0,0,113742,0,0,0,6138,0,0,0,30616,0,0]
["CCDC12","ENSG00000160799",3,47020962,"rs1429627439","A","G","gnomAD_Genomes","NA","PASS","c.-10+2T>C",null,"c.-10+2T>C","splice_donor_variant","lc_lof",1,31346,3.19019970650163e-05,0,0,0,8698,0,0,0,848,0,0,0,290,0,0,0,1558,0,0,0,3472,0,0,1,15394,0,0,0,1086,0,0,0,0,0,0]
["CCDC66","ENSG00000180376",3,56605241,"rs556042658","G","T","gnomAD_Exomes","PASS","NA","p.Glu283Ter","p.Glu283Ter","c.847G>T","stop_gained","lof_flag",70,224364,0.000311993011357,0,0,0,15104,0,0,0,25842,0,0,0,8840,0,0,0,16404,0,0,0,21182,0,0,0,106724,0,0,0,5468,0,0,70,24800,0,0]
["CCDC66","ENSG00000180376",3,56653471,"rs775693868","C","T","gnomAD_Exomes","PASS","NA","p.Arg851Ter","p.Arg851Ter","c.2551C>T","stop_gained","lof_flag",13,251176,5.175653724878171e-05,0,0,1,16202,0,0,2,34584,0,0,0,10078,0,0,0,18392,0,0,0,21646,0,0,5,113542,0,0,0,6116,0,0,5,30616,0,0]
["CCDC66","ENSG00000180376",3,56627057,"rs781097765","G","A","gnomAD_Exomes","PASS","NA","p.Trp332Ter","p.Trp332Ter","c.996G>A","stop_gained","lof_flag",6,249870,2.4012486492976305e-05,1,0,0,16114,0,0,0,34186,0,0,0,10050,0,0,0,18316,0,0,0,21630,0,0,0,113242,0,0,0,6088,0,0,6,30244,1,0]
["CCDC66","ENSG00000180376",3,56627076,"rs369380410","C","T","gnomAD_Exomes","PASS","NA","p.Gln339Ter","p.Gln339Ter","c.1015C>T","stop_gained","lof_flag",5,248608,2.0111983524263104e-05,0,0,0,15936,0,0,0,34008,0,0,0,10026,0,0,0,18188,0,0,0,21622,0,0,3,112622,0,0,0,6054,0,0,2,30152,0,0]
["CCDC66","ENSG00000180376",3,56651481,"rs751932069","G","T","gnomAD_Exomes","PASS","NA","p.Glu729Ter","p.Glu729Ter","c.2185G>T","stop_gained","lof_flag",4,249014,1.6063353867654002e-05,0,0,0,15960,0,0,0,34360,0,0,0,9998,0,0,4,18248,0,0,0,21618,0,0,0,112370,0,0,0,6050,0,0,0,30410,0,0]
["CCDC66","ENSG00000180376",3,56598084,"rs773726330","C","T","gnomAD_Exomes","PASS","NA","p.Gln159Ter","p.Gln159Ter","c.475C>T","stop_gained","lof_flag",3,251048,1.1949905994072801e-05,0,0,0,16202,0,0,0,34574,0,0,1,10064,0,0,0,18384,0,0,0,21646,0,0,1,113462,0,0,1,6120,0,0,0,30596,0,0]
["CCDC66","ENSG00000180376",3,56653489,"rs771042291","T","TA","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Tyr857Ter","p.Tyr857Ter","c.2570dupA","stop_gained","lof_flag",3,282526,1.0618491749431901e-05,0,0,3,24918,0,0,0,35426,0,0,0,10364,0,0,0,19950,0,0,0,25120,0,0,0,128928,0,0,0,7204,0,0,0,30616,0,0]
["CCDC66","ENSG00000180376",3,56626998,"rs774788240","G","T","gnomAD_Exomes","PASS","NA","p.Glu313Ter","p.Glu313Ter","c.937G>T","stop_gained","lof_flag",2,241720,8.274036074797291e-06,0,0,0,15886,0,0,0,31762,0,0,0,9798,0,0,1,17892,0,0,0,21522,0,0,0,110982,0,0,0,5968,0,0,1,27910,0,0]
["CCDC66","ENSG00000180376",3,56627525,"rs375942661","G","T","gnomAD_Exomes","PASS","NA","p.Glu359Ter","p.Glu359Ter","c.1075G>T","stop_gained","lof_flag",2,251194,7.961973614019439e-06,0,0,0,16256,0,0,2,34574,0,0,0,10072,0,0,0,18392,0,0,0,21612,0,0,0,113566,0,0,0,6126,0,0,0,30596,0,0]
["CCDC66","ENSG00000180376",3,56653307,"rs753126773","C","G","gnomAD_Exomes","PASS","NA","p.Ser796Ter","p.Ser796Ter","c.2387C>G","stop_gained","lof_flag",2,233514,8.564796971487788e-06,0,0,0,15410,0,0,0,30298,0,0,0,9110,0,0,0,17496,0,0,0,21166,0,0,2,108242,0,0,0,5572,0,0,0,26220,0,0]
["CCDC66","ENSG00000180376",3,56653310,"rs1203633230","C","G","gnomAD_Genomes","NA","PASS","p.Ser797Ter","p.Ser797Ter","c.2390C>G","stop_gained","lof_flag",2,31296,6.39059304703476e-05,0,0,2,8692,0,0,0,844,0,0,0,290,0,0,0,1554,0,0,0,3460,0,0,0,15374,0,0,0,1082,0,0,0,0,0,0]
["CCDC66","ENSG00000180376",3,56597781,"rs968351938","C","T","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Gln58Ter","p.Gln58Ter","c.172C>T","stop_gained","lof_flag",2,190402,1.05040913435783e-05,0,0,0,16910,0,0,0,25618,0,0,0,8824,0,0,2,12872,0,0,0,20502,0,0,0,77300,0,0,0,5574,0,0,0,22802,0,0]
["CCDC66","ENSG00000180376",3,56598055,"rs751101219","T","A","gnomAD_Exomes","PASS","NA","p.Leu149Ter","p.Leu149Ter","c.446T>A","stop_gained","lof_flag",1,251132,3.9819696414634495e-06,0,0,0,16216,0,0,0,34588,0,0,0,10060,0,0,0,18386,0,0,0,21646,0,0,1,113510,0,0,0,6126,0,0,0,30600,0,0]
["CCDC66","ENSG00000180376",3,56598075,"rs748201227","C","T","gnomAD_Exomes","PASS","NA","p.Gln156Ter","p.Gln156Ter","c.466C>T","stop_gained","lof_flag",1,251082,3.98276260345226e-06,0,0,0,16204,0,0,0,34578,0,0,0,10062,0,0,0,18378,0,0,0,21648,0,0,1,113490,0,0,0,6122,0,0,0,30600,0,0]
["CCDC66","ENSG00000180376",3,56627056,"rs751475171","G","A","gnomAD_Exomes","PASS","NA","p.Trp332Ter","p.Trp332Ter","c.995G>A","stop_gained","lof_flag",1,249746,4.00406813322336e-06,0,0,0,16096,0,0,0,34186,0,0,0,10046,0,0,0,18300,0,0,0,21628,0,0,1,113188,0,0,0,6086,0,0,0,30216,0,0]
["CCDC66","ENSG00000180376",3,56627538,"rs370584174","G","A","gnomAD_Exomes","PASS","NA","p.Trp363Ter","p.Trp363Ter","c.1088G>A","stop_gained","lof_flag",1,251294,3.979402612079869e-06,0,0,1,16256,0,0,0,34578,0,0,0,10078,0,0,0,18392,0,0,0,21628,0,0,0,113624,0,0,0,6130,0,0,0,30608,0,0]
["CCDC66","ENSG00000180376",3,56651499,"rs961541445","C","T","gnomAD_Exomes","PASS","NA","p.Gln735Ter","p.Gln735Ter","c.2203C>T","stop_gained","lof_flag",1,249982,4.00028802073749e-06,0,0,0,16124,0,0,0,34532,0,0,0,10028,0,0,0,18324,0,0,0,21644,0,0,1,112672,0,0,0,6086,0,0,0,30572,0,0]
["CCDC66","ENSG00000180376",3,56651618,"rs1489030370","G","A","gnomAD_Exomes","PASS","NA","p.Trp774Ter","p.Trp774Ter","c.2322G>A","stop_gained","lof_flag",1,234816,4.25865358408286e-06,0,0,0,15658,0,0,1,30488,0,0,0,9034,0,0,0,17356,0,0,0,21104,0,0,0,108348,0,0,0,5614,0,0,0,27214,0,0]
["CCDC66","ENSG00000180376",3,56653528,"rs1306734267","C","T","gnomAD_Exomes","PASS","NA","p.Gln870Ter","p.Gln870Ter","c.2608C>T","stop_gained","lof_flag",1,248036,4.03167282168717e-06,0,0,0,16092,0,0,0,33900,0,0,0,9962,0,0,0,18336,0,0,0,21602,0,0,0,112442,0,0,1,6050,0,0,0,29652,0,0]
["CCDC66","ENSG00000180376",3,56653550,"rs770113701","C","A","gnomAD_Exomes","PASS","NA","p.Ser877Ter","p.Ser877Ter","c.2630C>A","stop_gained","lof_flag",1,240820,4.152479029980899e-06,0,0,0,15840,0,0,0,31998,0,0,0,9468,0,0,0,18084,0,0,0,21450,0,0,0,110080,0,0,0,5856,0,0,1,28044,0,0]
["CCDC66","ENSG00000180376",3,56597792,"rs1308555507","T","A","gnomAD_Genomes","NA","PASS","p.Cys61Ter","p.Cys61Ter","c.183T>A","stop_gained","lof_flag",1,31402,3.18451054072989e-05,0,0,1,8718,0,0,0,848,0,0,0,290,0,0,0,1560,0,0,0,3476,0,0,0,15424,0,0,0,1086,0,0,0,0,0,0]
["CCDC66","ENSG00000180376",3,56600765,"rs1181116578","C","T","gnomAD_Genomes","NA","PASS","p.Gln230Ter","p.Gln230Ter","c.688C>T","stop_gained","lof_flag",1,31396,3.1851191234552205e-05,0,0,0,8714,0,0,0,848,0,0,0,290,0,0,0,1560,0,0,0,3470,0,0,0,15426,0,0,1,1088,0,0,0,0,0,0]
["CCDC66","ENSG00000180376",3,56627127,"rs1195847141","A","T","gnomAD_Genomes","NA","PASS","p.Lys356Ter","p.Lys356Ter","c.1066A>T","stop_gained","lof_flag",1,31386,3.1861339450710506e-05,0,0,1,8716,0,0,0,848,0,0,0,288,0,0,0,1544,0,0,0,3472,0,0,0,15430,0,0,0,1088,0,0,0,0,0,0]
["CCDC66","ENSG00000180376",3,56653372,"rs1419434273","A","T","gnomAD_Genomes","NA","PASS","p.Lys818Ter","p.Lys818Ter","c.2452A>T","stop_gained","lof_flag",1,31396,3.1851191234552205e-05,0,0,1,8708,0,0,0,848,0,0,0,290,0,0,0,1560,0,0,0,3474,0,0,0,15428,0,0,0,1088,0,0,0,0,0,0]
["CCDC66","ENSG00000180376",3,56651613,"rs567591114","A","AG","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Trp774ValfsTer48","p.Trp774ValfsTer48","c.2319dupG","frameshift_variant","lof_flag",355,270744,0.001311201725615,5,0,1,24470,0,0,12,32588,0,0,264,9652,4,0,0,19242,0,0,0,24786,0,0,59,125186,0,0,10,6830,0,0,9,27990,1,0]
["CCDC66","ENSG00000180376",3,56653421,"rs748331545","CAG","C","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Glu835IlefsTer7","p.Glu835IlefsTer7","c.2503_2504delGA","frameshift_variant","lof_flag",177,282440,0.00062668177312,1,0,1,24924,0,0,3,35422,0,0,0,10366,0,0,0,19858,0,0,0,25116,0,0,18,128944,0,0,5,7208,0,0,150,30602,1,0]
["CCDC66","ENSG00000180376",3,56627125,"rs1486230208","CA","C","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Lys356ArgfsTer15","p.Lys356ArgfsTer15","c.1067delA","frameshift_variant","lof_flag",100,269498,0.00037106026760900005,0,0,0,23964,0,0,0,32080,0,0,0,9914,0,0,97,19118,0,0,0,24854,0,0,0,125132,0,0,1,6888,0,0,2,27548,0,0]
["CCDC66","ENSG00000180376",3,56627644,"rs553558566","TC","T","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Gln399ArgfsTer26","p.Gln399ArgfsTer26","c.1195delC","frameshift_variant","lof_flag",89,282788,0.00031472339703200004,0,0,85,24956,0,0,3,35434,0,0,0,10370,0,0,0,19952,0,0,0,25122,0,0,1,129114,0,0,0,7226,0,0,0,30614,0,0]
["CCDC66","ENSG00000180376",3,56651360,"rs773603090","GAAAC","G","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Thr691AsnfsTer3","p.Thr691AsnfsTer3","c.2072_2075delCAAA","frameshift_variant","lof_flag",62,280236,0.00022124209594800003,0,0,3,24726,0,0,1,35036,0,0,0,10264,0,0,0,19848,0,0,0,25042,0,0,40,128176,0,0,2,7128,0,0,16,30016,0,0]
["CCDC66","ENSG00000180376",3,56605239,"rs778701709","AAG","A","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Glu283SerfsTer3","p.Glu283SerfsTer3","c.847_848delGA","frameshift_variant","lof_flag",58,255864,0.00022668292530400003,0,0,1,23814,0,0,2,26684,0,0,0,9126,0,0,0,17978,0,0,24,24638,0,0,31,122284,0,0,0,6540,0,0,0,24800,0,0]
["CCDC66","ENSG00000180376",3,56653416,"rs780060125","TCAAA","T","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Thr834AsnfsTer68","p.Thr834AsnfsTer68","c.2499_2502delAACA","frameshift_variant","lof_flag",50,282566,0.000176949809956,1,0,0,24936,0,0,1,35424,0,0,0,10366,0,0,49,19954,1,0,0,25114,0,0,0,128958,0,0,0,7204,0,0,0,30610,0,0]
["CCDC66","ENSG00000180376",3,56650000,"rs750932339","CAT","C","gnomAD_Exomes","PASS","NA","p.His588ArgfsTer3","p.His588ArgfsTer3","c.1763_1764delAT","frameshift_variant","lof_flag",24,246778,9.725340184295202e-05,0,0,0,16060,0,0,24,33218,0,0,0,10022,0,0,0,18190,0,0,0,21490,0,0,0,112526,0,0,0,6026,0,0,0,29246,0,0]
["CCDC66","ENSG00000180376",3,56651364,"rs750927810","CAAACA","C","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Lys692HisfsTer6","p.Lys692HisfsTer6","c.2074_2078delAAACA","frameshift_variant","lof_flag",11,280192,3.92587939698492e-05,0,0,0,24670,0,0,0,35006,0,0,0,10278,0,0,0,19832,0,0,0,25046,0,0,11,128164,0,0,0,7128,0,0,0,30068,0,0]
["CCDC66","ENSG00000180376",3,56627761,"rs776526064","GAAAAC","G","gnomAD_Exomes","PASS","NA","p.Thr439LeufsTer15","p.Thr439LeufsTer15","c.1315_1319delACAAA","frameshift_variant","lof_flag",7,251094,2.7878005846416104e-05,0,0,0,16254,0,0,0,34536,0,0,0,10054,0,0,1,18392,0,0,0,21610,0,0,0,113546,0,0,0,6114,0,0,6,30588,0,0]
["CCDC66","ENSG00000180376",3,56651555,"rs749245582","CAG","C","gnomAD_Exomes","PASS","NA","p.Gly755HisfsTer66","p.Gly755HisfsTer66","c.2262_2263delAG","frameshift_variant","lof_flag",7,248278,2.81942016610412e-05,0,0,0,16126,0,0,7,34098,0,0,0,9970,0,0,0,18272,0,0,0,21618,0,0,0,112308,0,0,0,6060,0,0,0,29826,0,0]
["CCDC66","ENSG00000180376",3,56627054,"rs751716066","ATG","A","gnomAD_Exomes","PASS","NA","p.Trp332AspfsTer2","p.Trp332AspfsTer2","c.994_995delTG","frameshift_variant","lof_flag",6,249394,2.4058317361283804e-05,1,0,0,16122,0,0,0,34038,0,0,0,10046,0,0,0,18300,0,0,0,21624,0,0,0,113158,0,0,0,6088,0,0,6,30018,1,0]
["CCDC66","ENSG00000180376",3,56653416,"rs780060125","T","TCAAA","gnomAD_Exomes","PASS","NA","p.Glu835AsnfsTer9","p.Glu835AsnfsTer9","c.2499_2502dupAACA","frameshift_variant","lof_flag",6,251198,2.3885540489972002e-05,1,0,0,16232,0,0,0,34578,0,0,0,10076,0,0,0,18394,0,0,0,21646,0,0,0,113544,0,0,0,6118,0,0,6,30610,1,0]
["CCDC66","ENSG00000180376",3,56627002,"rs767859989","CAG","C","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Val315ThrfsTer19","p.Val315ThrfsTer19","c.942_943delAG","frameshift_variant","lof_flag",6,275914,2.17459063331328e-05,0,0,4,24654,0,0,0,33510,0,0,0,10196,0,0,0,19622,0,0,0,25040,0,0,1,127180,0,0,0,7096,0,0,1,28616,0,0]
["CCDC66","ENSG00000180376",3,56652216,"rs1297099180","ATATT","A","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Phe789AlafsTer12","p.Phe789AlafsTer12","c.2355_2358delTATT","frameshift_variant","lof_flag",6,282476,2.1240742576360502e-05,0,0,1,24962,0,0,1,35366,0,0,0,10358,0,0,0,19952,0,0,0,25096,0,0,4,128936,0,0,0,7204,0,0,0,30602,0,0]
["CCDC66","ENSG00000180376",3,56653386,"rs757212822","TGAGA","T","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Glu825IlefsTer2","p.Glu825IlefsTer2","c.2473_2476delGAGA","frameshift_variant","lof_flag",6,282476,2.1240742576360502e-05,0,0,0,24932,0,0,0,35414,0,0,0,10362,0,0,0,19948,0,0,0,25110,0,0,6,128902,0,0,0,7200,0,0,0,30608,0,0]
["CCDC66","ENSG00000180376",3,56653349,"rs763592591","A","AAAAT","gnomAD_Exomes","PASS","NA","p.Thr812LysfsTer11","p.Thr812LysfsTer11","c.2431_2434dupAATA","frameshift_variant","lof_flag",5,250546,1.99564151892267e-05,0,0,0,16156,0,0,5,34464,0,0,0,10048,0,0,0,18376,0,0,0,21630,0,0,0,113288,0,0,0,6078,0,0,0,30506,0,0]
["CCDC66","ENSG00000180376",3,56653370,"rs753303042","T","TA","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Asn819LysfsTer3","p.Asn819LysfsTer3","c.2456dupA","frameshift_variant","lof_flag",5,282190,1.7718558418087103e-05,0,0,5,24896,0,0,0,35402,0,0,0,10354,0,0,0,19940,0,0,0,25092,0,0,0,128722,0,0,0,7186,0,0,0,30598,0,0]
["CCDC66","ENSG00000180376",3,56651495,"rs780857210","G","GAGGCAGATGGAATTGCTTCATTTGGT","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Glu743GlyfsTer9","p.Glu743GlyfsTer9","c.2202_2227dupGCAGATGGAATTGCTTCATTTGGTAG","frameshift_variant","lof_flag",4,281416,1.42138329021804e-05,0,0,2,24834,0,0,0,35380,0,0,0,10324,0,0,0,19886,0,0,0,25120,0,0,2,128130,0,0,0,7168,0,0,0,30574,0,0]
["CCDC66","ENSG00000180376",3,56653463,"rs202228962","C","CGTAT","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Arg851CysfsTer5","p.Arg851CysfsTer5","c.2546_2549dupATGT","frameshift_variant","lof_flag",4,282534,1.4157588113289e-05,0,0,0,24910,0,0,0,35438,0,0,0,10366,0,0,0,19948,0,0,0,25106,0,0,4,128946,0,0,0,7204,0,0,0,30616,0,0]
["CCDC66","ENSG00000180376",3,56605237,"rs745584519","AAAAG","A","gnomAD_Exomes","PASS","NA","p.Glu283PhefsTer17","p.Glu283PhefsTer17","c.846_849delAGAA","frameshift_variant","lof_flag",3,224382,1.3370056421638102e-05,0,0,0,15088,0,0,0,25814,0,0,0,8826,0,0,0,16418,0,0,0,21176,0,0,0,106816,0,0,0,5446,0,0,3,24798,0,0]
["CCDC66","ENSG00000180376",3,56651452,"rs1306890590","AC","A","gnomAD_Exomes","PASS","NA","p.Pro720LeufsTer13","p.Pro720LeufsTer13","c.2159delC","frameshift_variant","lof_flag",3,250286,1.1986287686886202e-05,0,0,0,15990,0,0,3,34516,0,0,0,10042,0,0,0,18350,0,0,0,21644,0,0,0,113076,0,0,0,6086,0,0,0,30582,0,0]
["CCDC66","ENSG00000180376",3,56651487,"rs754572923","AAAGT","A","gnomAD_Exomes","PASS","NA","p.Val732GlyfsTer10","p.Val732GlyfsTer10","c.2195_2198delTAAG","frameshift_variant","lof_flag",3,250192,1.19907910724564e-05,0,0,0,16076,0,0,1,34538,0,0,0,10042,0,0,0,18324,0,0,0,21642,0,0,2,112908,0,0,0,6082,0,0,0,30580,0,0]
["CCDC66","ENSG00000180376",3,56653482,"rs749355499","GATCT","G","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Tyr856ThrfsTer46","p.Tyr856ThrfsTer46","c.2565_2568delCTAT","frameshift_variant","lof_flag",3,282530,1.0618341415071001e-05,0,0,3,24916,0,0,0,35430,0,0,0,10364,0,0,0,19952,0,0,0,25112,0,0,0,128940,0,0,0,7202,0,0,0,30614,0,0]
["CCDC66","ENSG00000180376",3,56600766,"rs746307461","AGT","A","gnomAD_Exomes","PASS","NA","p.Cys231Ter","p.Cys231Ter","c.693_694delTG","frameshift_variant","lof_flag",2,247650,8.075913587724609e-06,0,0,0,16204,0,0,2,33606,0,0,0,9882,0,0,0,18314,0,0,0,21580,0,0,0,112504,0,0,0,6032,0,0,0,29528,0,0]
["CCDC66","ENSG00000180376",3,56605228,"rs761045815","GAAGA","G","gnomAD_Exomes","PASS","NA","p.Glu281LysfsTer19","p.Glu281LysfsTer19","c.841_844delGAAA","frameshift_variant","lof_flag",2,221056,9.04748118123914e-06,0,0,0,14736,0,0,1,25062,0,0,1,8660,0,0,0,16066,0,0,0,21128,0,0,0,105568,0,0,0,5332,0,0,0,24504,0,0]
["CCDC66","ENSG00000180376",3,56605286,"rs775134179","GATAAA","G","gnomAD_Exomes","PASS","NA","p.Lys299AsnfsTer9","p.Lys299AsnfsTer9","c.897_901delAATAA","frameshift_variant","lof_flag",2,225094,8.88517685944539e-06,0,0,0,15080,0,0,0,26202,0,0,0,9090,0,0,0,16244,0,0,0,21264,0,0,2,107042,0,0,0,5524,0,0,0,24648,0,0]
["CCDC66","ENSG00000180376",3,56627751,"rs1275037641","CAAACAGT","C","gnomAD_Exomes","PASS","NA","p.Asn435ArgfsTer9","p.Asn435ArgfsTer9","c.1304_1310delACAGTAA","frameshift_variant","lof_flag",2,251156,7.963178263708609e-06,0,0,0,16256,0,0,0,34542,0,0,0,10056,0,0,0,18392,0,0,0,21620,0,0,0,113570,0,0,0,6122,0,0,2,30598,0,0]
["CCDC66","ENSG00000180376",3,56649978,"rs1191062420","AT","A","gnomAD_Exomes","PASS","NA","p.Ser581LeufsTer17","p.Ser581LeufsTer17","c.1741delT","frameshift_variant","lof_flag",2,246996,8.0972971222206e-06,0,0,0,16118,0,0,0,33410,0,0,0,10018,0,0,0,18254,0,0,0,21444,0,0,2,112562,0,0,0,6034,0,0,0,29156,0,0]
["CCDC66","ENSG00000180376",3,56651523,"rs755632556","G","GA","gnomAD_Exomes","PASS","NA","p.Asn745LysfsTer2","p.Asn745LysfsTer2","c.2234dupA","frameshift_variant","lof_flag",2,249582,8.01339840212836e-06,0,0,0,16126,0,0,0,34458,0,0,0,10016,0,0,0,18304,0,0,0,21632,0,0,2,112450,0,0,0,6078,0,0,0,30518,0,0]
["CCDC66","ENSG00000180376",3,56652217,"rs775228899","TATTC","T","gnomAD_Exomes","PASS","NA","p.Phe789AlafsTer12","p.Phe789AlafsTer12","c.2365_2368delTTCA","frameshift_variant","lof_flag",2,251060,7.96622321357444e-06,0,0,1,16248,0,0,0,34514,0,0,0,10070,0,0,0,18392,0,0,0,21618,0,0,0,113500,0,0,0,6114,0,0,1,30604,0,0]
["CCDC66","ENSG00000180376",3,56653306,"rs755790325","T","TC","gnomAD_Exomes","PASS","NA","p.Ser797IlefsTer25","p.Ser797IlefsTer25","c.2387dupC","frameshift_variant","lof_flag",2,233862,8.55205206489297e-06,0,0,2,15404,0,0,0,30426,0,0,0,9124,0,0,0,17518,0,0,0,21168,0,0,0,108392,0,0,0,5576,0,0,0,26254,0,0]
["CCDC66","ENSG00000180376",3,56653386,"rs757212822","TGA","T","gnomAD_Exomes","PASS","NA","p.Asn826PhefsTer6","p.Asn826PhefsTer6","c.2475_2476delGA","frameshift_variant","lof_flag",2,251114,7.96451014280367e-06,0,0,0,16230,0,0,0,34566,0,0,0,10072,0,0,0,18388,0,0,0,21646,0,0,2,113488,0,0,0,6116,0,0,0,30608,0,0]
["CCDC66","ENSG00000180376",3,56598096,"rs1486479619","AC","A","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Thr163MetfsTer2","p.Thr163MetfsTer2","c.488delC","frameshift_variant","lof_flag",2,281826,7.0965773207582e-06,0,0,2,24886,0,0,0,35224,0,0,0,10322,0,0,0,19928,0,0,0,25114,0,0,0,128694,0,0,0,7188,0,0,0,30470,0,0]
["CCDC66","ENSG00000180376",3,56627047,"rs765062250","AAAGAAAATGGATT","A","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Arg330LysfsTer3","p.Arg330LysfsTer3","c.987_999delAAGAAAATGGATT","frameshift_variant","lof_flag",2,281106,7.1147538650900395e-06,0,0,2,24864,0,0,0,34974,0,0,0,10338,0,0,0,19884,0,0,0,25110,0,0,0,128650,0,0,0,7184,0,0,0,30102,0,0]
["CCDC66","ENSG00000180376",3,56597837,"rs780284655","AACATC","A","gnomAD_Exomes","PASS","NA","p.Ser78GlyfsTer4","p.Ser78GlyfsTer4","c.232_236delTCACA","frameshift_variant","lof_flag",1,162354,6.159380119984719e-06,0,0,0,8590,0,0,1,25034,0,0,0,8580,0,0,0,11592,0,0,0,17226,0,0,0,63510,0,0,0,4554,0,0,0,23268,0,0]
["CCDC66","ENSG00000180376",3,56597872,"rs753427169","CTT","C","gnomAD_Exomes","PASS","NA","p.Ser90IlefsTer3","p.Ser90IlefsTer3","c.267_268delTT","frameshift_variant","lof_flag",1,192702,5.18935973679567e-06,0,0,1,11274,0,0,0,28246,0,0,0,9066,0,0,0,14020,0,0,0,19260,0,0,0,79902,0,0,0,5132,0,0,0,25802,0,0]
["CCDC66","ENSG00000180376",3,56597906,"rs1445516554","TATAG","T","gnomAD_Exomes","PASS","NA","p.Asp101LysfsTer24","p.Asp101LysfsTer24","c.301_304delGATA","frameshift_variant","lof_flag",1,239178,4.1809865455853e-06,0,0,0,15094,0,0,0,33650,0,0,0,9886,0,0,0,17700,0,0,0,21338,0,0,1,106048,0,0,0,5904,0,0,0,29558,0,0]
["CCDC66","ENSG00000180376",3,56600715,"rs1335821828","TC","T","gnomAD_Exomes","PASS","NA","p.Pro214GlnfsTer8","p.Pro214GlnfsTer8","c.641delC","frameshift_variant","lof_flag",1,251258,3.97997277698621e-06,0,0,0,16248,0,0,0,34570,0,0,0,10076,0,0,0,18394,0,0,0,21640,0,0,1,113616,0,0,0,6120,0,0,0,30594,0,0]
["CCDC66","ENSG00000180376",3,56605235,"rs1487408821","G","GA","gnomAD_Exomes","PASS","NA","p.Glu283ArgfsTer4","p.Glu283ArgfsTer4","c.846dupA","frameshift_variant","lof_flag",1,223422,4.475834967013099e-06,0,0,0,14952,0,0,0,25754,0,0,0,8852,0,0,1,16328,0,0,0,21168,0,0,0,106268,0,0,0,5398,0,0,0,24702,0,0]
["CCDC66","ENSG00000180376",3,56605260,"rs1405997605","AT","A","gnomAD_Exomes","PASS","NA","p.Asn289LysfsTer12","p.Asn289LysfsTer12","c.867delT","frameshift_variant","lof_flag",1,234238,4.26916213423953e-06,0,0,0,15414,0,0,0,29414,0,0,0,9548,0,0,0,17042,0,0,0,21452,0,0,1,109480,0,0,0,5772,0,0,0,26116,0,0]
["CCDC66","ENSG00000180376",3,56627005,null,"T","TAC","gnomAD_Exomes","PASS","NA","p.Leu316HisfsTer10","p.Leu316HisfsTer10","c.945_946dupAC","frameshift_variant","lof_flag",1,245364,4.0755775093330695e-06,0,0,0,16028,0,0,0,32872,0,0,0,9926,0,0,0,18068,0,0,0,21584,0,0,1,112082,0,0,0,6030,0,0,0,28774,0,0]
["CCDC66","ENSG00000180376",3,56627591,"rs774812077","TTC","T","gnomAD_Exomes","PASS","NA","p.Gln383ValfsTer7","p.Gln383ValfsTer7","c.1146_1147delTC","frameshift_variant","lof_flag",1,251428,3.97728176654947e-06,0,0,0,16256,0,0,0,34584,0,0,0,10078,0,0,0,18394,0,0,0,21648,0,0,0,113714,0,0,0,6140,0,0,1,30614,0,0]
["CCDC66","ENSG00000180376",3,56627630,"rs969319578","GTC","G","gnomAD_Exomes","PASS","NA","p.Pro396Ter","p.Pro396Ter","c.1185_1186delTC","frameshift_variant","lof_flag",1,251390,3.977882970682999e-06,0,0,0,16256,0,0,0,34586,0,0,0,10080,0,0,0,18394,0,0,0,21646,0,0,1,113680,0,0,0,6134,0,0,0,30614,0,0]
["CCDC66","ENSG00000180376",3,56627728,"rs768194125","ACCTATTAAGGATGTGGT","A","gnomAD_Exomes","PASS","NA","p.Pro427TyrfsTer5","p.Pro427TyrfsTer5","c.1279_1295delCCTATTAAGGATGTGGT","frameshift_variant","lof_flag",1,251348,3.97854767095819e-06,0,0,0,16254,0,0,0,34592,0,0,0,10080,0,0,0,18394,0,0,0,21642,0,0,1,113642,0,0,0,6130,0,0,0,30614,0,0]
["CCDC66","ENSG00000180376",3,56650029,"rs1225459849","GAATA","G","gnomAD_Exomes","PASS","NA","p.Asn598HisfsTer3","p.Asn598HisfsTer3","c.1792_1795delAATA","frameshift_variant","lof_flag",1,236550,4.22743606002959e-06,0,0,0,14530,0,0,0,30786,0,0,0,9922,0,0,0,15958,0,0,0,21208,0,0,1,110668,0,0,0,5762,0,0,0,27716,0,0]
["CCDC66","ENSG00000180376",3,56650080,"rs772545595","AG","A","gnomAD_Exomes","PASS","NA","c.1843+1delG",null,"c.1843+1delG","frameshift_variant","lof_flag",1,231450,4.32058759991359e-06,0,0,0,15166,0,0,0,28654,0,0,0,9628,0,0,1,17110,0,0,0,21322,0,0,0,108136,0,0,0,5612,0,0,0,25822,0,0]
["CCDC66","ENSG00000180376",3,56651422,"rs766658618","CT","C","gnomAD_Exomes","PASS","NA","p.Arg711GlyfsTer22","p.Arg711GlyfsTer22","c.2127delT","frameshift_variant","lof_flag",1,250062,3.9990082459549995e-06,0,0,0,15882,0,0,0,34500,0,0,0,10044,0,0,0,18356,0,0,0,21634,0,0,1,113010,0,0,0,6080,0,0,0,30556,0,0]
["CCDC66","ENSG00000180376",3,56651423,"rs1303808054","TA","T","gnomAD_Exomes","PASS","NA","p.Arg711GlyfsTer22","p.Arg711GlyfsTer22","c.2131delA","frameshift_variant","lof_flag",1,250078,3.99875238925455e-06,0,0,0,15874,0,0,0,34504,0,0,0,10042,0,0,1,18364,0,0,0,21638,0,0,0,113020,0,0,0,6076,0,0,0,30560,0,0]
["CCDC66","ENSG00000180376",3,56651521,"rs752335918","TA","T","gnomAD_Exomes","PASS","NA","p.Glu743LysfsTer30","p.Glu743LysfsTer30","c.2226delA","frameshift_variant","lof_flag",1,249864,4.002177184388309e-06,0,0,0,16146,0,0,0,34486,0,0,0,10032,0,0,0,18330,0,0,0,21644,0,0,0,112588,0,0,0,6078,0,0,1,30560,0,0]
["CCDC66","ENSG00000180376",3,56651543,"rs777209773","CCT","C","gnomAD_Exomes","PASS","NA","p.Gln752LysfsTer69","p.Gln752LysfsTer69","c.2253_2254delTC","frameshift_variant","lof_flag",1,249574,4.006827634288829e-06,0,0,0,16152,0,0,0,34430,0,0,0,10026,0,0,0,18318,0,0,0,21634,0,0,1,112564,0,0,0,6084,0,0,0,30366,0,0]
["CCDC66","ENSG00000180376",3,56651582,"rs1336000638","TTCATC","T","gnomAD_Exomes","PASS","NA","p.His765ArgfsTer55","p.His765ArgfsTer55","c.2292_2296delTCATC","frameshift_variant","lof_flag",1,246180,4.06206840523194e-06,0,0,0,15986,0,0,0,33608,0,0,0,9830,0,0,0,18132,0,0,0,21572,0,0,0,111820,0,0,0,5970,0,0,1,29262,0,0]
["CCDC66","ENSG00000180376",3,56653393,"rs758964849","G","GAGAATTTGATCTCAGGAAGTAAT","gnomAD_Exomes","PASS","NA","p.Gln833ArgfsTer3","p.Gln833ArgfsTer3","c.2474_2496dupAGAATTTGATCTCAGGAAGTAAT","frameshift_variant","lof_flag",1,251120,3.98215992354253e-06,0,0,0,16232,0,0,0,34562,0,0,0,10070,0,0,0,18390,0,0,0,21648,0,0,1,113490,0,0,0,6116,0,0,0,30612,0,0]
["CCDC66","ENSG00000180376",3,56653407,null,"A","AG","gnomAD_Exomes","PASS","NA","p.Ser831LysfsTer2","p.Ser831LysfsTer2","c.2489dupG","frameshift_variant","lof_flag",1,251222,3.98054310530129e-06,0,0,0,16236,0,0,0,34574,0,0,0,10068,0,0,0,18388,0,0,0,21648,0,0,1,113576,0,0,0,6118,0,0,0,30614,0,0]
["CCDC66","ENSG00000180376",3,56653413,"rs745848348","T","TAATC","gnomAD_Exomes","PASS","NA","p.Thr834SerfsTer10","p.Thr834SerfsTer10","c.2496_2499dupTCAA","frameshift_variant","lof_flag",1,251204,3.9808283307590696e-06,0,0,0,16234,0,0,0,34572,0,0,0,10076,0,0,0,18392,0,0,0,21644,0,0,0,113558,0,0,0,6120,0,0,1,30608,0,0]
["CCDC66","ENSG00000180376",3,56653413,"rs745848348","TAATC","T","gnomAD_Exomes","PASS","NA","p.Asn832LysfsTer70","p.Asn832LysfsTer70","c.2496_2499delTCAA","frameshift_variant","lof_flag",1,251204,3.9808283307590696e-06,0,0,0,16234,0,0,0,34572,0,0,0,10076,0,0,1,18392,0,0,0,21644,0,0,0,113558,0,0,0,6120,0,0,0,30608,0,0]
["CCDC66","ENSG00000180376",3,56627094,"rs1337059026","CAAAGAAAAATA","C","gnomAD_Genomes","NA","PASS","p.Gln345ArgfsTer10","p.Gln345ArgfsTer10","c.1034_1044delAAAGAAAAATA","frameshift_variant","lof_flag",1,31238,3.20122927204046e-05,0,0,0,8686,0,0,0,840,0,0,0,290,0,0,1,1554,0,0,0,3440,0,0,0,15344,0,0,0,1084,0,0,0,0,0,0]
["CCDC66","ENSG00000180376",3,56627766,"rs1232441578","CAA","C","gnomAD_Genomes","NA","PASS","p.Asn440LeufsTer15","p.Asn440LeufsTer15","c.1318_1319delAA","frameshift_variant","lof_flag",1,31392,3.1855249745158005e-05,0,0,1,8710,0,0,0,848,0,0,0,290,0,0,0,1560,0,0,0,3476,0,0,0,15422,0,0,0,1086,0,0,0,0,0,0]
["CCDC66","ENSG00000180376",3,56650015,"rs765295668","A","AT","gnomAD_Genomes","NA","PASS","p.Ser594GlnfsTer3","p.Ser594GlnfsTer3","c.1778dupT","frameshift_variant","lof_flag",1,31202,3.2049227613614504e-05,0,0,0,8582,0,0,0,834,0,0,0,290,0,0,0,1542,0,0,0,3464,0,0,1,15406,0,0,0,1084,0,0,0,0,0,0]
["CCDC66","ENSG00000180376",3,56650018,"rs752802875","AG","A","gnomAD_Genomes","NA","PASS","p.Ser594MetfsTer4","p.Ser594MetfsTer4","c.1781delG","frameshift_variant","lof_flag",1,31102,3.21522731657128e-05,0,0,0,8520,0,0,0,832,0,0,0,290,0,0,0,1532,0,0,0,3454,0,0,1,15390,0,0,0,1084,0,0,0,0,0,0]
["CCDC66","ENSG00000180376",3,56650020,"rs1346740678","TGG","T","gnomAD_Genomes","NA","PASS","p.Gly595Ter","p.Gly595Ter","c.1783_1784delGG","frameshift_variant","lof_flag",1,31002,3.22559834849364e-05,0,0,0,8454,0,0,0,826,0,0,0,290,0,0,0,1526,0,0,0,3446,0,0,1,15382,0,0,0,1078,0,0,0,0,0,0]
["CCDC66","ENSG00000180376",3,56651423,"rs1303808054","T","TA","gnomAD_Genomes","NA","PASS","p.Arg711LysfsTer11","p.Arg711LysfsTer11","c.2131dupA","frameshift_variant","lof_flag",1,31380,3.1867431485022305e-05,0,0,1,8702,0,0,0,848,0,0,0,290,0,0,0,1560,0,0,0,3472,0,0,0,15420,0,0,0,1088,0,0,0,0,0,0]
["CCDC66","ENSG00000180376",3,56653454,null,"A","AT","gnomAD_Genomes","NA","PASS","p.Ile847TyrfsTer8","p.Ile847TyrfsTer8","c.2538dupT","frameshift_variant","lof_flag",1,31374,3.18735258494295e-05,0,0,0,8712,0,0,0,848,0,0,0,290,0,0,0,1558,0,0,0,3470,0,0,1,15414,0,0,0,1082,0,0,0,0,0,0]
["CCDC66","ENSG00000180376",3,56600619,"rs1483934971","T","G","gnomAD_Exomes","PASS","NA","c.545-3T>G",null,"c.545-3T>G","splice_region_variant","lc_lof,os_lof",1,241848,4.13482848731435e-06,0,0,0,15594,0,0,0,32338,0,0,0,9532,0,0,0,18072,0,0,0,21454,0,0,0,110576,0,0,0,5830,0,0,1,28452,0,0]
["CCDC66","ENSG00000180376",3,56628059,"rs143212383","A","G","gnomAD_Exomes","PASS","NA","c.1404+3A>G",null,"c.1404+3A>G","splice_region_variant","lc_lof,os_lof",3,251408,1.19327945013683e-05,0,0,0,16256,0,0,0,34588,0,0,0,10076,0,0,0,18394,0,0,0,21648,0,0,2,113700,0,0,1,6130,0,0,0,30616,0,0]
["CCDC66","ENSG00000180376",3,56647783,"rs775917446","G","A","gnomAD_Exomes","PASS","NA","c.1566+5G>A",null,"c.1566+5G>A","splice_region_variant","lc_lof,os_lof",26,241478,0.000107670263958,0,0,2,16074,0,0,0,31748,0,0,0,9546,0,0,0,17954,0,0,0,21492,0,0,0,110854,0,0,0,5836,0,0,24,27974,0,0]
["CCDC66","ENSG00000180376",3,56650084,"rs770780498","A","G","gnomAD_Exomes","PASS","NA","c.1843+3A>G",null,"c.1843+3A>G","splice_region_variant","lc_lof,os_lof",7,229096,3.05548765582987e-05,0,0,0,15074,0,0,7,27890,0,0,0,9522,0,0,0,16948,0,0,0,21310,0,0,0,107496,0,0,0,5532,0,0,0,25324,0,0]
["CCDC66","ENSG00000180376",3,56653557,"rs775723889","TA","T","gnomAD_Exomes","PASS","NA","c.2635+4delA",null,"c.2635+4delA","splice_region_variant","lc_lof,os_lof",7,237188,2.9512454255695902e-05,0,0,0,15690,0,0,0,31132,0,0,0,9160,0,0,0,17900,0,0,0,21272,0,0,0,108884,0,0,1,5744,0,0,6,27406,0,0]
["CCDC66","ENSG00000180376",3,56653929,"rs763618270","G","A","gnomAD_Exomes","PASS","NA","c.2760G>A","c.2760G>A(p.=)","c.2760G>A","splice_region_variant","lc_lof,os_lof",1,250762,3.9878450482928e-06,0,0,0,16248,0,0,0,34478,0,0,0,10044,0,0,0,18372,0,0,0,21560,0,0,0,113400,0,0,0,6108,0,0,1,30552,0,0]
["CCDC66","ENSG00000180376",3,56655557,"rs772816378","C","G","gnomAD_Exomes","PASS","NA","c.2761-3C>G",null,"c.2761-3C>G","splice_region_variant","lc_lof,os_lof",1,233524,4.28221510422912e-06,0,0,0,15732,0,0,0,28498,0,0,0,9318,0,0,0,17270,0,0,0,21316,0,0,1,109352,0,0,0,5602,0,0,0,26436,0,0]
["CCDC66","ENSG00000180376",3,56651633,"rs1422275828","G","T","gnomAD_Exomes","PASS","NA","p.Lys779Asn","p.Lys779Asn","c.2337G>T","missense_variant","lc_lof,os_lof",1,225060,4.44325957522439e-06,0,0,1,15372,0,0,0,28272,0,0,0,8352,0,0,0,16804,0,0,0,20522,0,0,0,105072,0,0,0,5274,0,0,0,25392,0,0]
["CCDC66","ENSG00000180376",3,56651633,"rs1422275828","G","C","gnomAD_Exomes","PASS","NA","p.Lys779Asn","p.Lys779Asn","c.2337G>C","missense_variant","lc_lof,os_lof",1,225060,4.44325957522439e-06,0,0,0,15372,0,0,1,28272,0,0,0,8352,0,0,0,16804,0,0,0,20522,0,0,0,105072,0,0,0,5274,0,0,0,25392,0,0]
["CCDC66","ENSG00000180376",3,56605197,"rs1289323586","CATT","C","gnomAD_Exomes","PASS","NA","c.815-8_815-6delATT",null,"c.815-8_815-6delATT","intron_variant","lc_lof,os_lof",1,201066,4.973491291416749e-06,0,0,1,13392,0,0,0,19910,0,0,0,7244,0,0,0,14472,0,0,0,20016,0,0,0,98772,0,0,0,4544,0,0,0,22716,0,0]
["CCDC66","ENSG00000180376",3,56649146,"rs147410213","A","G","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","c.1567-10A>G",null,"c.1567-10A>G","intron_variant","lc_lof,os_lof",31,280870,0.000110371346174,0,0,1,24952,0,0,0,35094,0,0,0,10286,0,0,22,19828,0,0,0,25084,0,0,2,128236,0,0,0,7180,0,0,6,30210,0,0]
["CCDC66","ENSG00000180376",3,56655617,"rs369777591","C","T","gnomAD_Exomes","PASS","NA","p.Gln940Ter","p.Gln940Ter","c.2818C>T","stop_gained","lc_lof",7,242468,2.8869789003084903e-05,0,0,7,16028,0,0,0,31592,0,0,0,9824,0,0,0,17870,0,0,0,21512,0,0,0,111666,0,0,0,5882,0,0,0,28094,0,0]
["CCDC66","ENSG00000180376",3,56655623,"rs766423875","G","T","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Glu942Ter","p.Glu942Ter","c.2824G>T","stop_gained","lc_lof",6,272864,2.1988976193268402e-05,0,0,0,24722,0,0,0,32160,0,0,0,10034,0,0,0,19410,0,0,0,24966,0,0,5,126846,0,0,0,6960,0,0,1,27766,0,0]
["CCDC66","ENSG00000180376",3,56603355,"rs544969369","C","T","gnomAD_Genomes","NA","PASS","p.Gln277Ter","p.Gln277Ter","c.829C>T","stop_gained","lc_lof",2,31214,6.40738130326136e-05,0,0,2,8648,0,0,0,842,0,0,0,290,0,0,0,1518,0,0,0,3472,0,0,0,15362,0,0,0,1082,0,0,0,0,0,0]
["CCDC66","ENSG00000180376",3,56591261,"rs1051264809","AGG","A","gnomAD_Exomes","PASS","NA","c.-92_-92+1delGG",null,"c.-92_-92+1delGG","splice_donor_variant","lc_lof",1,154052,6.49131462103705e-06,0,0,0,7912,0,0,0,24680,0,0,0,8484,0,0,0,10890,0,0,0,15168,0,0,1,59840,0,0,0,4328,0,0,0,22750,0,0]
["CCDC66","ENSG00000180376",3,56655621,"rs144848139","A","AAGAG","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Ser943ArgfsTer18","p.Ser943ArgfsTer18","c.2825_2828dupAGAG","frameshift_variant","lc_lof",634,273140,0.002321153986966,0,0,13,24754,0,0,13,32264,0,0,0,10046,0,0,0,19416,0,0,46,24988,0,0,547,126890,0,0,9,6960,0,0,6,27822,0,0]
["CCDC66","ENSG00000180376",3,56655588,"rs1257132904","A","AAAGT","gnomAD_Exomes","PASS","NA","p.Ser932LysfsTer2","p.Ser932LysfsTer2","c.2791_2794dupAGTA","frameshift_variant","lc_lof",4,242966,1.64632088440358e-05,0,0,0,16046,0,0,0,31716,0,0,0,9804,0,0,0,17922,0,0,0,21516,0,0,4,111850,0,0,0,5864,0,0,0,28248,0,0]
["CCDC66","ENSG00000180376",3,56655611,"rs760979564","G","GA","gnomAD_Exomes","PASS","NA","p.Asn939LysfsTer21","p.Asn939LysfsTer21","c.2816dupA","frameshift_variant","lc_lof",2,242986,8.23092688467648e-06,0,0,0,16048,0,0,0,31784,0,0,0,9832,0,0,0,17914,0,0,0,21524,0,0,2,111800,0,0,0,5886,0,0,0,28198,0,0]
["CCDC66","ENSG00000180376",3,56655603,"rs775876891","C","CT","gnomAD_Exomes","PASS","NA","p.Leu936PhefsTer3","p.Leu936PhefsTer3","c.2807dupT","frameshift_variant","lc_lof",1,245112,4.07976761643657e-06,0,0,0,16096,0,0,0,32394,0,0,0,9942,0,0,0,18044,0,0,0,21544,0,0,0,112316,0,0,0,5944,0,0,1,28832,0,0]
["CCDC77","ENSG00000120647",12,541118,"rs775173180","C","T","gnomAD_Exomes","PASS","NA","p.Gln224Ter","p.Gln224Ter","c.670C>T","stop_gained","lof_flag",3,249780,1.20105693009849e-05,0,0,0,16178,0,0,0,33998,0,0,0,9994,0,0,0,18196,0,0,1,21590,0,0,2,113264,0,0,0,6074,0,0,0,30486,0,0]
["CCDC77","ENSG00000120647",12,541059,"rs756248866","CGA","C","gnomAD_Genomes","NA","PASS","p.Arg207LysfsTer5","p.Arg207LysfsTer5","c.620_621delGA","frameshift_variant","lof_flag",1,31350,3.18979266347687e-05,0,0,0,8686,0,0,0,848,0,0,0,290,0,0,0,1554,0,0,0,3472,0,0,1,15414,0,0,0,1086,0,0,0,0,0,0]
["CCDC77","ENSG00000120647",12,542493,"rs777359807","G","C","gnomAD_Exomes","PASS","NA","c.821+5G>C",null,"c.821+5G>C","splice_region_variant","lc_lof,os_lof",1,251068,3.98298468940685e-06,0,0,0,16254,0,0,0,34406,0,0,0,10054,0,0,1,18360,0,0,0,21626,0,0,0,113658,0,0,0,6118,0,0,0,30592,0,0]
["CCDC77","ENSG00000120647",12,547723,"rs768122959","A","C","gnomAD_Exomes","PASS","NA","c.1041+3A>C",null,"c.1041+3A>C","splice_region_variant","lc_lof,os_lof",1,247876,4.03427520211719e-06,0,0,0,16058,0,0,0,33672,0,0,0,9890,0,0,1,18222,0,0,0,21590,0,0,0,112768,0,0,0,6014,0,0,0,29662,0,0]
["CCDC77","ENSG00000120647",12,527802,"rs1260469492","G","C","gnomAD_Exomes","PASS","NA","p.Arg138Thr","p.Arg138Thr","c.413G>C","missense_variant","lc_lof,os_lof",1,249094,4.01454872457787e-06,0,0,1,16222,0,0,0,33892,0,0,0,9984,0,0,0,18356,0,0,0,21632,0,0,0,113176,0,0,0,6094,0,0,0,29738,0,0]
["CCDC77","ENSG00000120647",12,549772,"rs1278384633","T","TTAG","gnomAD_Exomes","PASS","NA","c.1042-10_1042-9insAGT",null,"c.1042-10_1042-9insAGT","intron_variant","lc_lof,os_lof",1,250824,3.98685931170861e-06,0,0,0,16232,0,0,1,34480,0,0,0,10062,0,0,0,18390,0,0,0,21600,0,0,0,113388,0,0,0,6114,0,0,0,30558,0,0]
["CCDC77","ENSG00000120647",12,551069,"rs371270708","G","T","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Glu484Ter","p.Glu484Ter","c.1450G>T","stop_gained","lc_lof",8,282840,2.82845424975251e-05,0,0,6,24962,0,0,1,35436,0,0,0,10370,0,0,0,19952,0,0,0,25120,0,0,0,129164,0,0,1,7224,0,0,0,30612,0,0]
["CCDC77","ENSG00000120647",12,510851,"rs1053468887","G","T","gnomAD_Genomes","NA","PASS","c.-71+1G>T",null,"c.-71+1G>T","splice_donor_variant","lc_lof",1,31406,3.18410494809909e-05,0,0,0,8716,0,0,0,848,0,0,0,290,0,0,0,1558,0,0,0,3474,0,0,1,15434,0,0,0,1086,0,0,0,0,0,0]
["CCDC77","ENSG00000120647",12,518533,"rs1437255535","G","A","gnomAD_Exomes","PASS","NA","c.-16-1G>A",null,"c.-16-1G>A","splice_acceptor_variant","lc_lof",1,251330,3.97883261051208e-06,0,0,0,16230,0,0,0,34538,0,0,0,10076,0,0,1,18392,0,0,0,21646,0,0,0,113720,0,0,0,6136,0,0,0,30592,0,0]
["CCNE1","ENSG00000105173",19,30308471,"rs199616825","G","A","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","c.480+5G>A",null,"c.480+5G>A","splice_region_variant","lc_lof,os_lof",101,281976,0.000358186512327,0,0,39,24950,0,0,5,35396,0,0,46,10342,0,0,0,19948,0,0,0,25112,0,0,9,128438,0,0,2,7202,0,0,0,30588,0,0]
["CCNE1","ENSG00000105173",19,30308471,"rs199616825","G","C","gnomAD_Exomes","PASS","NA","c.480+5G>C",null,"c.480+5G>C","splice_region_variant","lc_lof,os_lof",1,250580,3.99074147976694e-06,0,0,0,16240,0,0,0,34548,0,0,0,10052,0,0,1,18390,0,0,0,21638,0,0,0,113010,0,0,0,6114,0,0,0,30588,0,0]
["CCNE1","ENSG00000105173",19,30308471,"rs199616825","G","T","gnomAD_Exomes","PASS","NA","c.480+5G>T",null,"c.480+5G>T","splice_region_variant","lc_lof,os_lof",4,250580,1.59629659190678e-05,0,0,0,16240,0,0,4,34548,0,0,0,10052,0,0,0,18390,0,0,0,21638,0,0,0,113010,0,0,0,6114,0,0,0,30588,0,0]
["CCNE1","ENSG00000105173",19,30308459,null,"GTCTTCCTGTTCGCTTCATGAAAGCACTGAGCATTTCCAGCATTTTTGTGTATTAGGACCTCTGTGTGGTTTATTCCCTCGACATGT","G","gnomAD_Genomes","NA","PASS","c.477_480+82delTCCTGTTCGCTTCATGAAAGCACTGAGCATTTCCAGCATTTTTGTGTATTAGGACCTCTGTGTGGTTTATTCCCTCGACATGTTCT",null,"c.477_480+82delTCCTGTTCGCTTCATGAAAGCACTGAGCATTTCCAGCATTTTTGTGTATTAGGACCTCTGTGTGGTTTATTCCCTCGACATGTTCT","splice_donor_variant","lc_lof",1,31400,3.18471337579618e-05,0,0,0,8714,0,0,0,848,0,0,0,290,0,0,0,1560,0,0,0,3474,0,0,1,15428,0,0,0,1086,0,0,0,0,0,0]
["CCR3","ENSG00000183625",3,46305944,"rs1256496395","C","G","gnomAD_Exomes","PASS","NA","p.Ser17Ter","p.Ser17Ter","c.50C>G","stop_gained","lof_flag",1,127950,7.81555295037124e-06,0,0,0,6900,0,0,0,20884,0,0,0,8056,0,0,1,9546,0,0,0,5204,0,0,0,54114,0,0,0,3880,0,0,0,19366,0,0]
["CCR3","ENSG00000183625",3,46305951,"rs1461231149","G","A","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","c.52+5G>A",null,"c.52+5G>A","splice_region_variant","lc_lof,os_lof",4,158220,2.52812539501959e-05,0,0,0,15418,0,0,3,21534,0,0,0,8342,0,0,1,10898,0,0,0,8666,0,0,0,69022,0,0,0,4934,0,0,0,19406,0,0]
["CCR3","ENSG00000183625",3,46245816,"rs1252582015","C","A","gnomAD_Genomes","NA","PASS","c.-11-1G>T",null,"c.-11-1G>T","splice_acceptor_variant","lc_lof,lof_flag",1,29910,3.3433634236041503e-05,0,0,1,7712,0,0,0,840,0,0,0,290,0,0,0,1558,0,0,0,3372,0,0,0,15082,0,0,0,1056,0,0,0,0,0,0]
["CCR3","ENSG00000183625",3,46244763,"rs770540609","C","A","gnomAD_Exomes","PASS","NA","p.Glu348Ter","p.Glu348Ter","c.1042G>T","stop_gained","lc_lof",1,250244,3.99609980658877e-06,0,0,0,16248,0,0,0,34570,0,0,0,10022,0,0,1,18380,0,0,0,21602,0,0,0,112728,0,0,0,6106,0,0,0,30588,0,0]
["CCR3","ENSG00000183625",3,46205355,null,"G","T","gnomAD_Genomes","NA","PASS","c.-285+1G>T",null,"c.-285+1G>T","splice_donor_variant","lc_lof",1,31386,3.1861339450710506e-05,0,0,0,8712,0,0,0,848,0,0,0,290,0,0,0,1558,0,0,1,3476,0,0,0,15414,0,0,0,1088,0,0,0,0,0,0]
["CCR3","ENSG00000183625",3,46305876,"rs768140204","A","C","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","c.-17-2A>C",null,"c.-17-2A>C","splice_acceptor_variant","lc_lof",5,171532,2.9149080055033506e-05,0,0,5,16154,0,0,0,25100,0,0,0,8662,0,0,0,12018,0,0,0,8802,0,0,0,73024,0,0,0,5222,0,0,0,22550,0,0]
["CCR3","ENSG00000183625",3,46252178,"rs1334492802","GCAGAGCT","G","gnomAD_Genomes","NA","PASS","c.-284-1_-279delGAGCTCA",null,"c.-284-1_-279delGAGCTCA","splice_acceptor_variant","lc_lof",2,31406,6.36820989619818e-05,0,0,1,8716,0,0,0,848,0,0,0,290,0,0,0,1560,0,0,0,3474,0,0,1,15430,0,0,0,1088,0,0,0,0,0,0]
["CCR3","ENSG00000183625",3,46307702,"rs138237800","C","CT","gnomAD_Exomes","PASS","NA","p.Ser373PhefsTer13","p.Ser373PhefsTer13","c.1117dupT","frameshift_variant","lc_lof",4,248222,1.6114607085592702e-05,0,0,0,16224,0,0,0,34118,0,0,0,9818,0,0,4,18300,0,0,0,21470,0,0,0,111944,0,0,0,6036,0,0,0,30312,0,0]
["CCR3","ENSG00000183625",3,46244799,"rs1022506898","GC","G","gnomAD_Exomes","PASS","NA","p.Arg335SerfsTer35","p.Arg335SerfsTer35","c.1005delG","frameshift_variant","lc_lof",1,250948,3.9848892997752494e-06,0,0,0,16252,0,0,0,34582,0,0,0,10054,0,0,0,18384,0,0,0,21640,0,0,1,113294,0,0,0,6126,0,0,0,30616,0,0]
["CCR3","ENSG00000183625",3,46244873,"rs1264793656","TA","T","gnomAD_Exomes","PASS","NA","p.Tyr311ThrfsTer59","p.Tyr311ThrfsTer59","c.931delT","frameshift_variant","lc_lof",1,251160,3.98152572065616e-06,0,0,0,16254,0,0,1,34586,0,0,0,10062,0,0,0,18380,0,0,0,21648,0,0,0,113484,0,0,0,6132,0,0,0,30614,0,0]
["CCR3","ENSG00000183625",3,46307640,"rs1442171209","CT","C","gnomAD_Exomes","PASS","NA","p.Pro353LeufsTer62","p.Pro353LeufsTer62","c.1056delT","frameshift_variant","lc_lof",1,250724,3.98844945039167e-06,0,0,0,16256,0,0,0,34566,0,0,0,10046,0,0,1,18356,0,0,0,21622,0,0,0,113152,0,0,0,6112,0,0,0,30614,0,0]
["CCR3","ENSG00000183625",3,46307695,"rs111826278","CG","C","gnomAD_Exomes","PASS","NA","p.Glu371AsnfsTer44","p.Glu371AsnfsTer44","c.1111delG","frameshift_variant","lc_lof",1,248950,4.01687085760193e-06,0,0,0,16242,0,0,0,34306,0,0,0,9914,0,0,0,18314,0,0,0,21504,0,0,1,112178,0,0,0,6064,0,0,0,30428,0,0]
["CCRL2","ENSG00000121797",3,46449187,"rs1426754179","TA","T","gnomAD_Exomes","PASS","NA","c.24+4delA",null,"c.24+4delA","splice_region_variant","lc_lof,os_lof",1,149272,6.69918002036551e-06,0,0,0,7518,0,0,0,22698,0,0,0,8332,0,0,0,10210,0,0,0,16752,0,0,1,58678,0,0,0,4224,0,0,0,20860,0,0]
["CCRL2","ENSG00000121797",3,46450157,"rs370137885","G","A","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Trp208Ter","p.Trp208Ter","c.623G>A","stop_gained","lc_lof",12,280902,4.2719524958882505e-05,0,0,2,24190,0,0,0,35364,0,0,0,10362,0,0,0,19534,0,0,0,25020,0,0,10,128682,0,0,0,7148,0,0,0,30602,0,0]
["CCRL2","ENSG00000121797",3,46450158,"rs763139331","G","A","gnomAD_Exomes","PASS","NA","p.Trp208Ter","p.Trp208Ter","c.624G>A","stop_gained","lc_lof",10,249514,4.0077911459878e-05,0,0,0,15486,0,0,0,34516,0,0,0,10072,0,0,0,17976,0,0,1,21550,0,0,9,113252,0,0,0,6060,0,0,0,30602,0,0]
["CCRL2","ENSG00000121797",3,46450102,"rs757175225","A","T","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Lys190Ter","p.Lys190Ter","c.568A>T","stop_gained","lc_lof",7,280892,2.49206100565342e-05,0,0,0,24202,0,0,0,35372,0,0,0,10360,0,0,0,19538,0,0,0,25032,0,0,7,128644,0,0,0,7144,0,0,0,30600,0,0]
["CCRL2","ENSG00000121797",3,46450323,"rs1415965485","G","A","gnomAD_Genomes","NA","PASS","p.Trp263Ter","p.Trp263Ter","c.789G>A","stop_gained","lc_lof",1,31392,3.1855249745158005e-05,0,0,0,8704,0,0,0,848,0,0,0,290,0,0,0,1560,0,0,0,3476,0,0,1,15426,0,0,0,1088,0,0,0,0,0,0]
["CCRL2","ENSG00000121797",3,46450080,"rs1358697118","T","A","gnomAD_Exomes","PASS","NA","p.Tyr182Ter","p.Tyr182Ter","c.546T>A","stop_gained","lc_lof",1,249460,4.0086587027980395e-06,0,0,0,15486,0,0,0,34520,0,0,0,10068,0,0,0,17976,0,0,0,21550,0,0,1,113202,0,0,0,6058,0,0,0,30600,0,0]
["CCRL2","ENSG00000121797",3,46450107,"rs1300946530","C","G","gnomAD_Exomes","PASS","NA","p.Tyr191Ter","p.Tyr191Ter","c.573C>G","stop_gained","lc_lof",1,249456,4.008722981207109e-06,0,0,0,15486,0,0,0,34526,0,0,0,10070,0,0,0,17976,0,0,0,21540,0,0,1,113202,0,0,0,6056,0,0,0,30600,0,0]
["CCRL2","ENSG00000121797",3,46450597,"rs759009059","G","T","gnomAD_Exomes","PASS","NA","p.Glu355Ter","p.Glu355Ter","c.1063G>T","stop_gained","lc_lof",1,245658,4.07069991614358e-06,0,0,1,15448,0,0,0,33936,0,0,0,9750,0,0,0,17930,0,0,0,21378,0,0,0,111456,0,0,0,5966,0,0,0,29794,0,0]
["CCRL2","ENSG00000121797",3,46449133,"rs1367048814","G","A","gnomAD_Exomes","PASS","NA","c.-13+1G>A",null,"c.-13+1G>A","splice_donor_variant","lc_lof",1,149458,6.6908429123901e-06,0,0,0,7590,0,0,1,22644,0,0,0,8322,0,0,0,10268,0,0,0,16730,0,0,0,58762,0,0,0,4252,0,0,0,20890,0,0]
["CCRL2","ENSG00000121797",3,46450020,"rs370200165","TA","T","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Thr163GlnfsTer7","p.Thr163GlnfsTer7","c.487delA","frameshift_variant","lc_lof",5,280866,1.7802083555859402e-05,0,0,5,24196,0,0,0,35368,0,0,0,10358,0,0,0,19532,0,0,0,25030,0,0,0,128640,0,0,0,7142,0,0,0,30600,0,0]
["CCRL2","ENSG00000121797",3,46450269,"rs1228061827","G","GTA","gnomAD_Genomes","NA","PASS","p.Ser247IlefsTer10","p.Ser247IlefsTer10","c.738_739dupTA","frameshift_variant","lc_lof",1,31402,3.18451054072989e-05,0,0,0,8708,0,0,0,848,0,0,0,290,0,0,1,1560,0,0,0,3474,0,0,0,15434,0,0,0,1088,0,0,0,0,0,0]
["CCRL2","ENSG00000121797",3,46449670,"rs756081023","CA","C","gnomAD_Exomes","PASS","NA","p.Gln46ArgfsTer17","p.Gln46ArgfsTer17","c.137delA","frameshift_variant","lc_lof",1,246938,4.04959949460998e-06,0,0,1,15248,0,0,0,34236,0,0,0,9976,0,0,0,17842,0,0,0,21332,0,0,0,111944,0,0,0,6018,0,0,0,30342,0,0]
["CCRL2","ENSG00000121797",3,46449675,"rs1352904763","AC","A","gnomAD_Exomes","PASS","NA","p.Leu48SerfsTer15","p.Leu48SerfsTer15","c.142delC","frameshift_variant","lc_lof",1,247688,4.037337295307e-06,0,0,0,15328,0,0,0,34316,0,0,0,10006,0,0,0,17874,0,0,0,21416,0,0,1,112316,0,0,0,6036,0,0,0,30396,0,0]
["CCRL2","ENSG00000121797",3,46449675,"rs1352904763","ACT","A","gnomAD_Exomes","PASS","NA","p.Ala50ProfsTer29","p.Ala50ProfsTer29","c.145_146delTC","frameshift_variant","lc_lof",1,247688,4.037337295307e-06,0,0,0,15328,0,0,0,34316,0,0,0,10006,0,0,0,17874,0,0,0,21416,0,0,1,112316,0,0,0,6036,0,0,0,30396,0,0]
["CCRL2","ENSG00000121797",3,46449822,"rs763989715","CTT","C","gnomAD_Exomes","PASS","NA","p.Leu97ValfsTer19","p.Leu97ValfsTer19","c.289_290delTT","frameshift_variant","lc_lof",1,249516,4.00775902146556e-06,0,0,0,15486,0,0,0,34528,0,0,0,10070,0,0,0,17974,0,0,0,21560,0,0,0,113238,0,0,0,6058,0,0,1,30602,0,0]
["CCRL2","ENSG00000121797",3,46449954,"rs368903454","G","GTT","gnomAD_Exomes","PASS","NA","p.Tyr141PhefsTer3","p.Tyr141PhefsTer3","c.421_422insTT","frameshift_variant","lc_lof",1,249508,4.00788752264457e-06,0,0,0,15486,0,0,0,34528,0,0,0,10072,0,0,0,17976,0,0,0,21562,0,0,0,113224,0,0,0,6058,0,0,1,30602,0,0]
["CCRL2","ENSG00000121797",3,46450003,"rs745722426","GT","G","gnomAD_Exomes","PASS","NA","p.Val157GlyfsTer13","p.Val157GlyfsTer13","c.470delT","frameshift_variant","lc_lof",1,249480,4.00833734167068e-06,0,0,0,15484,0,0,0,34526,0,0,0,10070,0,0,0,17976,0,0,0,21558,0,0,1,113210,0,0,0,6056,0,0,0,30600,0,0]
["CCRL2","ENSG00000121797",3,46450068,"rs1426493750","AT","A","gnomAD_Exomes","PASS","NA","p.Phe179SerfsTer34","p.Phe179SerfsTer34","c.536delT","frameshift_variant","lc_lof",1,249470,4.008498015793479e-06,0,0,0,15484,0,0,0,34516,0,0,0,10070,0,0,0,17976,0,0,0,21554,0,0,1,113212,0,0,0,6056,0,0,0,30602,0,0]
["CCRL2","ENSG00000121797",3,46450093,"rs1368243268","GAAGAC","G","gnomAD_Exomes","PASS","NA","p.Glu187AlafsTer8","p.Glu187AlafsTer8","c.560_564delAAGAC","frameshift_variant","lc_lof",1,249458,4.0086908417449e-06,0,0,1,15486,0,0,0,34524,0,0,0,10070,0,0,0,17976,0,0,0,21534,0,0,0,113208,0,0,0,6060,0,0,0,30600,0,0]
["CCRL2","ENSG00000121797",3,46450175,"rs1032389698","TAAAAATGA","T","gnomAD_Exomes","PASS","NA","p.Lys215HisfsTer30","p.Lys215HisfsTer30","c.643_650delAAAATGAA","frameshift_variant","lc_lof",1,249504,4.00795177632423e-06,0,0,0,15486,0,0,1,34516,0,0,0,10072,0,0,0,17978,0,0,0,21546,0,0,0,113248,0,0,0,6058,0,0,0,30600,0,0]
["CCRL2","ENSG00000121797",3,46450272,"rs771084705","TAGCCTTTTCA","T","gnomAD_Exomes","PASS","NA","p.Lys250LeufsTer3","p.Lys250LeufsTer3","c.742_751delCTTTTCAAGC","frameshift_variant","lc_lof",1,249540,4.00737356736395e-06,0,0,0,15486,0,0,0,34528,0,0,0,10072,0,0,0,17976,0,0,0,21562,0,0,1,113256,0,0,0,6058,0,0,0,30602,0,0]
["CCRL2","ENSG00000121797",3,46450380,"rs1240296081","T","TG","gnomAD_Exomes","PASS","NA","p.Asp283GlyfsTer16","p.Asp283GlyfsTer16","c.847dupG","frameshift_variant","lc_lof",1,249564,4.00698818739882e-06,0,0,0,15490,0,0,0,34524,0,0,0,10070,0,0,0,17982,0,0,0,21556,0,0,1,113284,0,0,0,6058,0,0,0,30600,0,0]
["CCRL2","ENSG00000121797",3,46450531,"rs1179288434","AC","A","gnomAD_Exomes","PASS","NA","p.Pro334HisfsTer71","p.Pro334HisfsTer71","c.1001delC","frameshift_variant","lc_lof",1,249522,4.00766265098869e-06,0,0,0,15484,0,0,0,34526,0,0,0,10070,0,0,0,17980,0,0,0,21554,0,0,1,113244,0,0,0,6062,0,0,0,30602,0,0]
["CCRL2","ENSG00000121797",3,46450545,"rs200592393","CA","C","gnomAD_Exomes","PASS","NA","p.Arg338GlyfsTer67","p.Arg338GlyfsTer67","c.1012delA","frameshift_variant","lc_lof",1,249466,4.00856228904941e-06,0,0,0,15488,0,0,0,34528,0,0,0,10064,0,0,0,17976,0,0,0,21544,0,0,1,113204,0,0,0,6060,0,0,0,30602,0,0]
["CCRL2","ENSG00000121797",3,46450586,"rs184378837","AC","A","gnomAD_Exomes","PASS","NA","p.His352IlefsTer53","p.His352IlefsTer53","c.1054delC","frameshift_variant","lc_lof",1,247412,4.04184113947585e-06,0,0,0,15478,0,0,0,34248,0,0,0,9910,0,0,0,17964,0,0,0,21480,0,0,1,112086,0,0,0,6024,0,0,0,30222,0,0]
["CCT2","ENSG00000166226",12,69981707,"rs1177093569","T","G","gnomAD_Exomes","PASS","NA","c.257-3T>G",null,"c.257-3T>G","splice_region_variant","lc_lof,os_lof",1,250450,3.9928129367139095e-06,0,0,0,16224,0,0,1,34370,0,0,0,10054,0,0,0,18376,0,0,0,21588,0,0,0,113496,0,0,0,6126,0,0,0,30216,0,0]
["CCT2","ENSG00000166226",12,69995123,"rs11541106","C","A","gnomAD_Exomes","PASS","NA","p.Ser495Ter","p.Ser495Ter","c.1484C>A","stop_gained","lc_lof",2,251058,7.966286674792279e-06,0,0,0,16240,0,0,0,34456,0,0,0,10074,0,0,0,18370,0,0,0,21634,0,0,2,113594,0,0,0,6130,0,0,0,30560,0,0]
["CCT2","ENSG00000166226",12,69995184,"rs1293267978","T","A","gnomAD_Exomes","PASS","NA","p.Cys515Ter","p.Cys515Ter","c.1545T>A","stop_gained","lc_lof",1,249948,4.00083217309201e-06,0,0,0,16194,0,0,1,34138,0,0,0,10044,0,0,0,18308,0,0,0,21594,0,0,0,113240,0,0,0,6096,0,0,0,30334,0,0]
["CCT2","ENSG00000166226",12,69995172,"rs1259438887","T","TA","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Glu513ArgfsTer?","p.Glu513ArgfsTer?","c.1536dupA","frameshift_variant","lc_lof",2,281974,7.092852532502999e-06,0,0,0,24938,0,0,0,35130,0,0,2,10352,0,0,0,19894,0,0,0,25106,0,0,0,128900,0,0,0,7184,0,0,0,30470,0,0]
["CCT2","ENSG00000166226",12,69995172,"rs1259438887","TAAAG","T","gnomAD_Exomes","PASS","NA","p.Glu513ThrfsTer13","p.Glu513ThrfsTer13","c.1536_1539delAGAA","frameshift_variant","lc_lof",2,250562,7.982056337353628e-06,0,0,0,16220,0,0,0,34282,0,0,0,10062,0,0,0,18334,0,0,2,21630,0,0,0,113468,0,0,0,6096,0,0,0,30470,0,0]
["CCT2","ENSG00000166226",12,69995115,"rs372245852","CG","C","gnomAD_Exomes","PASS","NA","p.Val493CysfsTer34","p.Val493CysfsTer34","c.1477delG","frameshift_variant","lc_lof",1,250938,3.98504809953056e-06,0,0,0,16236,0,0,0,34436,0,0,0,10064,0,0,0,18368,0,0,0,21634,0,0,1,113550,0,0,0,6128,0,0,0,30522,0,0]
["CCT2","ENSG00000166226",12,69995165,"rs762330653","AC","A","gnomAD_Exomes","PASS","NA","p.Ser510LeufsTer17","p.Ser510LeufsTer17","c.1527delC","frameshift_variant","lc_lof",1,250688,3.98902221087567e-06,0,0,0,16224,0,0,0,34316,0,0,0,10068,0,0,0,18324,0,0,0,21636,0,0,1,113498,0,0,0,6112,0,0,0,30510,0,0]
["CDK2AP1","ENSG00000111328",12,123746311,"rs1455902539","GC","G","gnomAD_Exomes","PASS","NA","p.Ala107GlnfsTer35","p.Ala107GlnfsTer35","c.319delG","frameshift_variant","segdup,lc_lof",6,251224,2.3883068496640402e-05,0,0,0,16244,0,0,6,34582,0,0,0,10076,0,0,0,18388,0,0,0,21640,0,0,0,113548,0,0,0,6138,0,0,0,30608,0,0]
["CGB2","ENSG00000104818",19,49536256,"rs777832687","C","A","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Cys90Ter","p.Cys90Ter","c.270C>A","stop_gained","segdup,lc_lof",12,94178,0.00012741829302,0,0,11,11596,0,0,0,15096,0,0,0,2624,0,0,0,9780,0,0,0,5886,0,0,0,37500,0,0,0,3056,0,0,1,8640,0,0]
["CGB2","ENSG00000104818",19,49536402,"rs573468238","C","G","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Ser139Ter","p.Ser139Ter","c.416C>G","stop_gained","segdup,lc_lof",10,279462,3.5783040270233504e-05,0,0,0,23776,0,0,0,35370,0,0,0,10260,0,0,6,19942,0,0,0,25070,0,0,3,127354,0,0,1,7122,0,0,0,30568,0,0]
["CGB2","ENSG00000104818",19,49536437,"rs202133130","C","T","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Arg151Ter","p.Arg151Ter","c.451C>T","stop_gained","segdup,lc_lof",50,281806,0.00017742702426500002,0,0,29,24476,0,0,0,35428,0,0,0,10360,0,0,0,19952,0,0,0,25112,0,0,18,128680,0,0,0,7182,0,0,3,30616,0,0]
["CGB2","ENSG00000104818",19,49536453,"rs763186401","C","A","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Ser156Ter","p.Ser156Ter","c.467C>A","stop_gained","segdup,lc_lof",7,281760,2.4843838727995506e-05,0,0,0,24492,0,0,0,35422,0,0,0,10358,0,0,1,19948,0,0,0,25118,0,0,1,128636,0,0,0,7182,0,0,5,30604,0,0]
["CGB2","ENSG00000104818",19,49536176,"rs1425299265","C","T","gnomAD_Exomes","PASS","NA","p.Gln64Ter","p.Gln64Ter","c.190C>T","stop_gained","segdup,lc_lof",1,57096,1.7514361776656903e-05,0,0,0,5294,0,0,0,11724,0,0,0,1688,0,0,0,7982,0,0,0,796,0,0,1,21170,0,0,0,1978,0,0,0,6464,0,0]
["CGB2","ENSG00000104818",19,49536340,"rs1299690131","C","A","gnomAD_Exomes","PASS","NA","p.Cys118Ter","p.Cys118Ter","c.354C>A","stop_gained","segdup,lc_lof",2,134038,1.4921141765767902e-05,0,0,0,8512,0,0,0,19576,0,0,0,4204,0,0,0,12484,0,0,0,13796,0,0,2,56392,0,0,0,3472,0,0,0,15602,0,0]
["CGB2","ENSG00000104818",19,49536458,"rs775720135","AC","A","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Pro159ArgfsTer?","p.Pro159ArgfsTer?","c.476delC","frameshift_variant","segdup,lc_lof",377,281476,0.001339368187696,1,0,2,24408,0,0,7,35418,0,0,8,10350,0,0,0,19942,0,0,176,25106,1,0,173,128464,0,0,11,7172,0,0,0,30616,0,0]
["CGB2","ENSG00000104818",19,49536177,"rs1157557215","AG","A","gnomAD_Exomes","PASS","NA","p.Val66SerfsTer29","p.Val66SerfsTer29","c.196delG","frameshift_variant","segdup,lc_lof",2,57084,3.50360871697849e-05,0,0,0,5294,0,0,0,11712,0,0,0,1688,0,0,0,7980,0,0,0,796,0,0,0,21170,0,0,0,1976,0,0,2,6468,0,0]
["CGB2","ENSG00000104818",19,49536191,"rs961311976","G","GC","gnomAD_Exomes","PASS","NA","p.Leu70ProfsTer48","p.Leu70ProfsTer48","c.208dupC","frameshift_variant","segdup,lc_lof",1,58000,1.72413793103448e-05,0,0,0,5330,0,0,0,11966,0,0,0,1722,0,0,0,8030,0,0,0,830,0,0,1,21508,0,0,0,1998,0,0,0,6616,0,0]
["CGB2","ENSG00000104818",19,49536380,"rs756866476","C","CG","gnomAD_Exomes","PASS","NA","p.Phe133LeufsTer?","p.Phe133LeufsTer?","c.395dupG","frameshift_variant","segdup,lc_lof",1,239014,4.1838553390178e-06,0,0,0,14076,0,0,0,33330,0,0,0,9358,0,0,0,18338,0,0,0,21166,0,0,1,107382,0,0,0,5806,0,0,0,29558,0,0]
["CGB2","ENSG00000104818",19,49536391,"rs777010041","CT","C","gnomAD_Exomes","PASS","NA","p.Ser136ProfsTer?","p.Ser136ProfsTer?","c.406delT","frameshift_variant","segdup,lc_lof",1,244100,4.09668168783286e-06,0,0,0,14936,0,0,0,33948,0,0,0,9616,0,0,0,18370,0,0,0,21406,0,0,0,109992,0,0,0,5920,0,0,1,29912,0,0]
["CGB2","ENSG00000104818",19,49536412,"rs1362997198","TC","T","gnomAD_Exomes","PASS","NA","p.Ser145AlafsTer?","p.Ser145AlafsTer?","c.432delC","frameshift_variant","segdup,lc_lof",2,249700,8.00961153384061e-06,0,0,0,15674,0,0,0,34566,0,0,0,10006,0,0,2,18392,0,0,0,21628,0,0,0,112754,0,0,0,6082,0,0,0,30598,0,0]
["CGB2","ENSG00000104818",19,49536426,"rs1234321908","CA","C","gnomAD_Exomes","PASS","NA","p.Ser148AlafsTer?","p.Ser148AlafsTer?","c.442delA","frameshift_variant","segdup,lc_lof",1,250710,3.9886721710342595e-06,0,0,0,15946,0,0,0,34584,0,0,0,10070,0,0,0,18394,0,0,0,21648,0,0,1,113350,0,0,0,6102,0,0,0,30616,0,0]
["CGB2","ENSG00000104818",19,49536429,"rs781558432","GC","G","gnomAD_Exomes","PASS","NA","p.Pro149HisfsTer?","p.Pro149HisfsTer?","c.446delC","frameshift_variant","segdup,lc_lof",1,250746,3.988099511059e-06,0,0,0,15952,0,0,0,34584,0,0,0,10070,0,0,1,18394,0,0,0,21648,0,0,0,113380,0,0,0,6102,0,0,0,30616,0,0]
["CGB2","ENSG00000104818",19,49536455,"rs769624942","G","GAC","gnomAD_Exomes","PASS","NA","p.Ile160ArgfsTer?","p.Ile160ArgfsTer?","c.472_473dupAC","frameshift_variant","segdup,lc_lof",1,250552,3.99118745809253e-06,0,0,0,15886,0,0,0,34580,0,0,0,10068,0,0,0,18392,0,0,0,21646,0,0,0,113266,0,0,0,6098,0,0,1,30616,0,0]
["CHCHD7","ENSG00000170791",8,57127226,"rs768823048","G","A","gnomAD_Exomes","PASS","NA","c.129G>A","c.129G>A(p.=)","c.129G>A","splice_region_variant","lc_lof,os_lof",1,251324,3.9789275994334e-06,0,0,0,16236,0,0,1,34558,0,0,0,10078,0,0,0,18386,0,0,0,21638,0,0,0,113686,0,0,0,6130,0,0,0,30612,0,0]
["CHCHD7","ENSG00000170791",8,57129105,"rs1185465353","G","A","gnomAD_Exomes","PASS","NA","p.Trp56Ter","p.Trp56Ter","c.168G>A","stop_gained","lc_lof",1,251292,3.97943428362224e-06,0,0,0,16250,0,0,1,34564,0,0,0,10076,0,0,0,18392,0,0,0,21618,0,0,0,113668,0,0,0,6128,0,0,0,30596,0,0]
["CHCHD7","ENSG00000170791",8,57129118,"rs745657642","TA","T","gnomAD_Exomes","PASS","NA","c.*2delA",null,"c.*2delA","frameshift_variant","lc_lof",1,251174,3.98130379736756e-06,0,0,0,16244,0,0,0,34558,0,0,0,10064,0,0,0,18390,0,0,0,21620,0,0,1,113576,0,0,0,6124,0,0,0,30598,0,0]
["CHCHD7","ENSG00000170791",8,57129983,"rs773408280","ATGCCCTAT","A","gnomAD_Exomes","PASS","NA","p.Pro109Asn","p.Pro109Asn","c.325_332delCCCTATTG","frameshift_variant","lc_lof",1,250850,3.98644608331672e-06,0,0,0,16246,0,0,0,34454,0,0,0,10066,0,0,0,18378,0,0,0,21640,0,0,1,113482,0,0,0,6130,0,0,0,30454,0,0]
["CLEC3B","ENSG00000163815",3,45052808,"rs771908785","C","T","gnomAD_Exomes","PASS","NA","p.Gln285Ter","p.Gln285Ter","c.853C>T","stop_gained","lc_lof",1,250146,3.99766536342776e-06,0,0,0,16148,0,0,0,34258,0,0,0,10062,0,0,0,18232,0,0,0,21614,0,0,0,113346,0,0,0,6072,0,0,1,30414,0,0]
["CLEC3B","ENSG00000163815",3,45077358,"rs758897099","G","A","gnomAD_Exomes","PASS","NA","p.Trp184Ter","p.Trp184Ter","c.551G>A","stop_gained","lc_lof",1,245664,4.07060049498502e-06,0,0,0,15452,0,0,0,34432,0,0,0,9962,0,0,0,17966,0,0,0,20706,0,0,1,110638,0,0,0,6022,0,0,0,30486,0,0]
["CLEC3B","ENSG00000163815",3,45052801,"rs140279197","CA","C","gnomAD_Exomes","PASS","NA","p.Lys283ArgfsTer?","p.Lys283ArgfsTer?","c.848delA","frameshift_variant","lc_lof",2,250286,7.99085845792414e-06,0,0,0,16168,0,0,1,34278,0,0,0,10068,0,0,0,18244,0,0,0,21632,0,0,1,113382,0,0,0,6080,0,0,0,30434,0,0]
["CLEC3B","ENSG00000163815",3,45052809,"rs759177646","AG","A","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Val287LeufsTer?","p.Val287LeufsTer?","c.855delG","frameshift_variant","lc_lof",2,281536,7.103887247101609e-06,0,0,1,24866,0,0,0,35086,0,0,0,10344,0,0,0,19798,0,0,0,25084,0,0,1,128782,0,0,0,7162,0,0,0,30414,0,0]
["CLEC3B","ENSG00000163815",3,45077392,"rs763752024","CA","C","gnomAD_Exomes","PASS","NA","p.Ile196SerfsTer?","p.Ile196SerfsTer?","c.586delA","frameshift_variant","lc_lof",1,238328,4.195898090027189e-06,0,0,0,14342,0,0,0,34162,0,0,0,9792,0,0,0,17770,0,0,0,18102,0,0,1,108004,0,0,0,5888,0,0,0,30268,0,0]
["CLEC3B","ENSG00000163815",3,45077415,"rs1435462175","A","AG","gnomAD_Exomes","PASS","NA","c.609dupG",null,"c.609dupG","frameshift_variant","lc_lof",1,226006,4.42466129217809e-06,0,0,0,13558,0,0,0,33514,0,0,0,9196,0,0,0,17526,0,0,0,14868,0,0,0,102748,0,0,0,5598,0,0,1,28998,0,0]
["CLINT1","ENSG00000113282",5,157285934,"rs1159504753","T","C","gnomAD_Exomes","PASS","NA","c.41+4A>G",null,"c.41+4A>G","splice_region_variant","lc_lof,os_lof",1,208284,4.801136909220099e-06,0,0,0,11936,0,0,1,27840,0,0,0,9002,0,0,0,12732,0,0,0,20868,0,0,0,94922,0,0,0,4780,0,0,0,26204,0,0]
["CLINT1","ENSG00000113282",5,157215004,"rs753001265","C","T","gnomAD_Exomes","PASS","NA","p.Trp66Ter","p.Trp66Ter","c.196G>A","stop_gained","lc_lof",1,221408,4.51654863419569e-06,0,0,0,13310,0,0,0,30844,0,0,0,9504,0,0,0,16026,0,0,0,20368,0,0,0,98038,0,0,0,5550,0,0,1,27768,0,0]
["CLINT1","ENSG00000113282",5,157285960,"rs756998186","C","G","gnomAD_Exomes","PASS","NA","c.-14+1G>C",null,"c.-14+1G>C","splice_donor_variant","lc_lof",1,243890,4.100209110664639e-06,0,0,0,15190,0,0,0,34190,0,0,0,9926,0,0,0,17860,0,0,0,21472,0,0,1,108814,0,0,0,5962,0,0,0,30476,0,0]
["CLINT1","ENSG00000113282",5,157219004,"rs751283243","CT","C","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","c.1088-2delA",null,"c.1088-2delA","splice_acceptor_variant","lc_lof",6,277046,2.1657053341322403e-05,0,0,6,24110,0,0,0,34840,0,0,0,10030,0,0,0,19456,0,0,0,24850,0,0,0,126548,0,0,0,7030,0,0,0,30182,0,0]
["CLINT1","ENSG00000113282",5,157215013,"rs761281877","AACAG","A","gnomAD_Exomes","PASS","NA","p.Ser62PhefsTer36","p.Ser62PhefsTer36","c.183_186delCTGT","frameshift_variant","lc_lof",9,202794,4.43800112429362e-05,0,0,0,11900,0,0,0,28632,0,0,0,9160,0,0,0,14626,0,0,0,19438,0,0,0,87538,0,0,0,5230,0,0,9,26270,0,0]
["CLINT1","ENSG00000113282",5,157215009,"rs114964494","C","CA","gnomAD_Exomes","PASS","NA","p.Val65CysfsTer119","p.Val65CysfsTer119","c.190_191insT","frameshift_variant","lc_lof",1,210084,4.760000761600119e-06,0,0,0,12534,0,0,0,29412,0,0,0,9288,0,0,0,15190,0,0,0,19780,0,0,1,91690,0,0,0,5362,0,0,0,26828,0,0]
["CLK1","ENSG00000013441",2,201724845,"rs369549247","T","C","gnomAD_Exomes","PASS","NA","c.607+3A>G",null,"c.607+3A>G","splice_region_variant","segdup,lc_lof,os_lof",1,251446,3.9769970490681895e-06,0,0,0,16256,0,0,0,34592,0,0,0,10080,0,0,0,18392,0,0,0,21646,0,0,1,113726,0,0,0,6138,0,0,0,30616,0,0]
["CLK1","ENSG00000013441",2,201728869,null,"GAACCCCAGCA","G","gnomAD_Exomes","PASS","NA","p.Leu24SerfsTer17","p.Leu24SerfsTer17","c.71_80delTGCTGGGGTT","frameshift_variant","lof_flag",1,153672,6.5073663386954e-06,0,0,0,7884,0,0,0,24566,0,0,0,8472,0,0,0,10870,0,0,0,16792,0,0,1,58076,0,0,0,4358,0,0,0,22654,0,0]
["CLK1","ENSG00000013441",2,201728882,"rs570134432","TCC","T","gnomAD_Exomes","PASS","NA","p.Asp23PhefsTer9","p.Asp23PhefsTer9","c.66_67delGG","frameshift_variant","lof_flag",1,153096,6.531849297173009e-06,0,0,0,7852,0,0,0,24462,0,0,0,8456,0,0,0,10810,0,0,0,16642,0,0,1,57960,0,0,0,4332,0,0,0,22582,0,0]
["CLK1","ENSG00000013441",2,201721607,"rs759301702","GACTT","G","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","c.1053+3_1053+6delAAGT",null,"c.1053+3_1053+6delAAGT","splice_region_variant","lc_lof,os_lof",2,282742,7.073586520573529e-06,0,0,1,24962,0,0,0,35406,0,0,0,10370,0,0,0,19954,0,0,0,25112,0,0,0,129116,0,0,1,7216,0,0,0,30606,0,0]
["CLK1","ENSG00000013441",2,201724400,"rs144753324","T","TA","gnomAD_Genomes","NA","PASS","c.674+2dupT",null,"c.674+2dupT","splice_region_variant","lc_lof,os_lof",2,31404,6.36861546299834e-05,0,0,0,8712,0,0,0,848,0,0,0,290,0,0,0,1560,0,0,0,3476,0,0,2,15430,0,0,0,1088,0,0,0,0,0,0]
["CLK1","ENSG00000013441",2,201718052,"rs1456147765","CAAAG","C","gnomAD_Exomes","PASS","NA","p.Phe518LeufsTer4","p.Phe518LeufsTer4","c.1554_1557delCTTT","frameshift_variant","lc_lof",1,249444,4.008915828803259e-06,0,0,0,16156,0,0,0,34052,0,0,1,10042,0,0,0,18264,0,0,0,21518,0,0,0,113116,0,0,0,6062,0,0,0,30234,0,0]
["CLK1","ENSG00000013441",2,201718068,"rs757999232","TA","T","gnomAD_Exomes","PASS","NA","p.Leu514Ter","p.Leu514Ter","c.1541delT","frameshift_variant","lc_lof",1,250692,3.9889585626984495e-06,0,0,0,16202,0,0,0,34394,0,0,0,10064,0,0,0,18342,0,0,0,21568,0,0,1,113488,0,0,0,6114,0,0,0,30520,0,0]
["CLK1","ENSG00000013441",2,201718085,"rs1312259356","TA","T","gnomAD_Exomes","PASS","NA","p.Thr509LeufsTer6","p.Thr509LeufsTer6","c.1524delT","frameshift_variant","lc_lof",1,251066,3.98301641799367e-06,0,0,0,16228,0,0,0,34512,0,0,0,10070,0,0,0,18382,0,0,0,21562,0,0,1,113610,0,0,0,6124,0,0,0,30578,0,0]
["CLK1","ENSG00000013441",2,201718098,"rs766056257","T","TGGATCATACTC","gnomAD_Exomes","PASS","NA","p.Ala505SerfsTer14","p.Ala505SerfsTer14","c.1501_1511dupGAGTATGATCC","frameshift_variant","lc_lof",1,251102,3.9824453807616e-06,0,0,0,16240,0,0,0,34508,0,0,0,10076,0,0,0,18388,0,0,0,21568,0,0,0,113630,0,0,0,6126,0,0,1,30566,0,0]
["CNOT6L","ENSG00000138767",4,78641601,"rs755697241","A","T","gnomAD_Exomes","PASS","NA","p.Leu551Ter","p.Leu551Ter","c.1652T>A","stop_gained","segdup,lc_lof,mnv",1,248746,4.0201651483843e-06,0,0,0,15484,0,0,0,34506,0,0,0,10060,0,0,0,17976,0,0,0,21532,0,0,1,112548,0,0,0,6038,0,0,0,30602,0,0]
["CNOT6L","ENSG00000138767",4,78663615,"rs556714726","G","T","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Cys4Ter","p.Cys4Ter","c.12C>A","stop_gained","lof_flag",12,153646,7.810161019486351e-05,0,0,10,15060,0,0,1,22128,0,0,0,7604,0,0,0,11520,0,0,0,11254,0,0,0,62006,0,0,1,4776,0,0,0,19298,0,0]
["CNOT6L","ENSG00000138767",4,78740181,"rs1380707811","GTCCCGGC","G","gnomAD_Genomes","NA","PASS","p.Gly11AlafsTer20","p.Gly11AlafsTer20","c.30_36delGCCGGGA","frameshift_variant","lof_flag",3,21692,0.00013829983404,0,0,3,6024,0,0,0,572,0,0,0,224,0,0,0,862,0,0,0,2390,0,0,0,10876,0,0,0,744,0,0,0,0,0,0]
["CNOT6L","ENSG00000138767",4,78663619,"rs1455678013","C","CT","gnomAD_Genomes","NA","PASS","p.Ser3LysfsTer10","p.Ser3LysfsTer10","c.7dupA","frameshift_variant","lof_flag",1,31384,3.1863369869997405e-05,0,0,0,8704,0,0,0,848,0,0,0,290,0,0,0,1558,0,0,0,3476,0,0,1,15422,0,0,0,1086,0,0,0,0,0,0]
["CNOT6L","ENSG00000138767",4,78740129,"rs779638506","TGCGA","T","gnomAD_Exomes","PASS","NA","p.Arg30AspfsTer2","p.Arg30AspfsTer2","c.85_88delTCGC","frameshift_variant","lof_flag",1,121802,8.21004581205563e-06,0,0,0,5722,0,0,0,23446,0,0,0,7564,0,0,0,10114,0,0,0,5006,0,0,0,44788,0,0,0,3772,0,0,1,21390,0,0]
["CNOT6L","ENSG00000138767",4,78740185,"rs1441753676","CG","C","gnomAD_Exomes","PASS","NA","p.Arg12GlyfsTer21","p.Arg12GlyfsTer21","c.32delC","frameshift_variant","lof_flag",1,113528,8.80839968994433e-06,0,0,1,5984,0,0,0,22918,0,0,0,6444,0,0,0,10266,0,0,0,4276,0,0,0,40700,0,0,0,3592,0,0,0,19348,0,0]
["CNOT6L","ENSG00000138767",4,78740202,"rs746671361","C","CCACACACACACACACACACACACACACACACA","gnomAD_Exomes","PASS","NA","p.Gly7ValfsTer37","p.Gly7ValfsTer37","c.15_16insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG","frameshift_variant","lcr,lof_flag",1,6216,0.000160875160875,0,0,0,454,0,0,0,926,0,0,0,258,0,0,0,534,0,0,0,282,0,0,0,1922,0,0,0,210,0,0,1,1630,0,0]
["CNOT6L","ENSG00000138767",4,78740202,"rs746671361","C","CGA","gnomAD_Exomes","PASS","NA","p.Gly7ArgfsTer27","p.Gly7ArgfsTer27","c.14_15dupTC","frameshift_variant","lcr,lof_flag",17,6216,0.002734877734878,0,0,0,454,0,0,1,926,0,0,0,258,0,0,0,534,0,0,0,282,0,0,2,1922,0,0,0,210,0,0,14,1630,0,0]
["CNOT6L","ENSG00000138767",4,78740387,"rs1342249047","C","T","gnomAD_Exomes","PASS","NA","p.Arg2Lys","p.Arg2Lys","c.5G>A","missense_variant","lc_lof,os_lof",1,247406,4.04193916073175e-06,0,0,0,14964,0,0,0,34412,0,0,0,9964,0,0,0,17958,0,0,1,21496,0,0,0,112272,0,0,0,6020,0,0,0,30320,0,0]
["CNP","ENSG00000173786",17,40123941,"rs377734705","G","A","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Trp12Ter","p.Trp12Ter","c.35G>A","stop_gained","lof_flag",20,279630,7.15230840753853e-05,0,0,0,24150,0,0,0,35352,0,0,0,10348,0,0,10,19536,0,0,0,25026,0,0,9,127482,0,0,0,7138,0,0,1,30598,0,0]
["CNP","ENSG00000173786",17,40123911,"rs781900322","C","A","gnomAD_Exomes","PASS","NA","p.Ser2Ter","p.Ser2Ter","c.5C>A","stop_gained","lof_flag",1,247360,4.042690815006469e-06,0,0,1,15426,0,0,0,34492,0,0,0,10042,0,0,0,17974,0,0,0,21552,0,0,0,111240,0,0,0,6034,0,0,0,30600,0,0]
["CNP","ENSG00000173786",17,40123942,null,"G","A","gnomAD_Genomes","NA","PASS","p.Trp12Ter","p.Trp12Ter","c.36G>A","stop_gained","lof_flag",1,31276,3.1973398132753504e-05,0,0,1,8662,0,0,0,844,0,0,0,290,0,0,0,1558,0,0,0,3470,0,0,0,15366,0,0,0,1086,0,0,0,0,0,0]
["COMMD10","ENSG00000145781",5,115426886,"rs761471909","G","A","gnomAD_Exomes","PASS","NA","c.243G>A","c.243G>A(p.=)","c.243G>A","splice_region_variant","lc_lof,os_lof",1,241942,4.13322201188715e-06,0,0,0,15516,0,0,0,32316,0,0,0,9840,0,0,0,18000,0,0,0,21436,0,0,1,110394,0,0,0,5834,0,0,0,28606,0,0]
["COMMD10","ENSG00000145781",5,115428397,"rs1405465096","G","A","gnomAD_Exomes","PASS","NA","c.399G>A","c.399G>A(p.=)","c.399G>A","splice_region_variant","lc_lof,os_lof",1,227832,4.38919905895572e-06,0,0,0,15422,0,0,0,28568,0,0,0,9012,0,0,0,16940,0,0,0,21098,0,0,1,105678,0,0,0,5318,0,0,0,25796,0,0]
["COMMD10","ENSG00000145781",5,115420790,"rs770804923","G","A","gnomAD_Exomes","PASS","NA","p.Ser14Asn","p.Ser14Asn","c.41G>A","missense_variant","lc_lof,os_lof",2,236840,8.444519506840059e-06,0,0,0,14596,0,0,0,33774,0,0,0,9624,0,0,0,17716,0,0,0,20568,0,0,2,105346,0,0,0,5742,0,0,0,29474,0,0]
["COMMD10","ENSG00000145781",5,115426766,"rs775996446","T","A","gnomAD_Exomes","PASS","NA","c.133-10T>A",null,"c.133-10T>A","intron_variant","lc_lof,os_lof",1,236156,4.2344890665492295e-06,0,0,0,15506,0,0,0,29814,0,0,0,9540,0,0,0,17494,0,0,0,21376,0,0,1,109894,0,0,0,5648,0,0,0,26884,0,0]
["COMMD10","ENSG00000145781",5,115628166,"rs777760753","C","T","gnomAD_Exomes","PASS","NA","p.Gln197Ter","p.Gln197Ter","c.589C>T","stop_gained","lc_lof",1,234400,4.266211604095559e-06,0,0,0,15508,0,0,1,31184,0,0,0,9758,0,0,0,17136,0,0,0,17868,0,0,0,109114,0,0,0,5668,0,0,0,28164,0,0]
["COMMD10","ENSG00000145781",5,115628170,"rs758338737","T","TG","gnomAD_Exomes","PASS","NA","p.Asp199GlyfsTer53","p.Asp199GlyfsTer53","c.595dupG","frameshift_variant","lc_lof",1,237092,4.21777200411654e-06,0,0,0,15682,0,0,0,31480,0,0,0,9830,0,0,0,17410,0,0,0,18256,0,0,1,110100,0,0,0,5748,0,0,0,28586,0,0]
["COPS3","ENSG00000141030",17,17164916,"rs775451865","G","A","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Gln285Ter","p.Gln285Ter","c.853C>T","stop_gained","lof_flag",4,125148,3.1962156806341305e-05,0,0,3,12424,0,0,0,17114,0,0,0,7102,0,0,0,7238,0,0,0,8196,0,0,0,51392,0,0,1,3904,0,0,0,17778,0,0]
["COPS3","ENSG00000141030",17,17164917,"rs1250324404","T","TAATC","gnomAD_Genomes","NA","PASS","p.Gln285IlefsTer5","p.Gln285IlefsTer5","c.848_851dupGATT","frameshift_variant","lof_flag",1,31312,3.19366377107818e-05,0,0,0,8692,0,0,0,846,0,0,0,290,0,0,0,1558,0,0,0,3428,0,0,1,15412,0,0,0,1086,0,0,0,0,0,0]
["COPS3","ENSG00000141030",17,17183887,"rs1304939124","C","A","gnomAD_Exomes","PASS","NA","c.-6+1G>T",null,"c.-6+1G>T","splice_donor_variant","lc_lof",2,135370,1.4774322227967802e-05,0,0,2,6096,0,0,0,21992,0,0,0,7928,0,0,0,8704,0,0,0,15368,0,0,0,50566,0,0,0,3858,0,0,0,20858,0,0]
["COPS8","ENSG00000198612",2,238002730,"rs1250909495","T","G","gnomAD_Exomes","PASS","NA","c.332-3T>G",null,"c.332-3T>G","splice_region_variant","lc_lof,os_lof",1,250156,3.99750555653272e-06,0,0,0,16230,0,0,0,34190,0,0,0,10038,0,0,0,18316,0,0,0,21624,0,0,1,113304,0,0,0,6090,0,0,0,30364,0,0]
["COPS8","ENSG00000198612",2,237995440,"rs142965046","GT","G","gnomAD_Genomes","NA","PASS","c.-70+2delT",null,"c.-70+2delT","splice_donor_variant","lc_lof",73,31392,0.002325433231397,0,0,2,8708,0,0,0,848,0,0,0,290,0,0,70,1556,0,0,1,3472,0,0,0,15432,0,0,0,1086,0,0,0,0,0,0]
["COPS8","ENSG00000198612",2,237995373,"rs1193380940","A","G","gnomAD_Genomes","NA","PASS","c.-134-2A>G",null,"c.-134-2A>G","splice_acceptor_variant","lc_lof",5,31412,0.00015917483764200002,0,0,0,8716,0,0,0,848,0,0,0,290,0,0,0,1560,0,0,2,3476,0,0,2,15434,0,0,1,1088,0,0,0,0,0,0]
["CORO2B","ENSG00000103647",15,68937496,"rs957650502","C","G","gnomAD_Genomes","NA","PASS","c.16-3C>G",null,"c.16-3C>G","splice_region_variant","lc_lof,os_lof",1,31386,3.1861339450710506e-05,0,0,1,8702,0,0,0,848,0,0,0,288,0,0,0,1560,0,0,0,3476,0,0,0,15424,0,0,0,1088,0,0,0,0,0,0]
["CORO2B","ENSG00000103647",15,69018269,"rs1308115211","C","T","gnomAD_Exomes","PASS","NA","p.Gln467Ter","p.Gln467Ter","c.1399C>T","stop_gained","lc_lof",1,250958,3.98473051267543e-06,0,0,0,16214,0,0,0,34530,0,0,0,10048,0,0,0,18362,0,0,0,21568,0,0,1,113506,0,0,0,6126,0,0,0,30604,0,0]
["COX4I1","ENSG00000131143",16,85834889,"rs772666331","G","C","gnomAD_Exomes","PASS","NA","c.73+5G>C",null,"c.73+5G>C","splice_region_variant","lc_lof,os_lof",1,251350,3.97851601352695e-06,0,0,1,16256,0,0,0,34508,0,0,0,10080,0,0,0,18390,0,0,0,21648,0,0,0,113724,0,0,0,6134,0,0,0,30610,0,0]
["COX4I1","ENSG00000131143",16,85838715,"rs1312588091","G","A","gnomAD_Exomes","PASS","NA","c.241+5G>A",null,"c.241+5G>A","splice_region_variant","lc_lof,os_lof",1,243220,4.11150398815887e-06,0,0,0,15424,0,0,0,33032,0,0,0,9526,0,0,0,18092,0,0,0,21338,0,0,1,110158,0,0,0,5874,0,0,0,29776,0,0]
["COX4I1","ENSG00000131143",16,85840336,"rs776935149","C","G","gnomAD_Exomes","PASS","NA","c.374-8C>G",null,"c.374-8C>G","splice_region_variant","lc_lof,os_lof",1,251324,3.9789275994334e-06,0,0,0,16254,0,0,0,34590,0,0,0,10076,0,0,1,18394,0,0,0,21646,0,0,0,113612,0,0,0,6136,0,0,0,30616,0,0]
["COX4I1","ENSG00000131143",16,85840471,"rs1412032777","G","A","gnomAD_Exomes","PASS","NA","p.Trp167Ter","p.Trp167Ter","c.501G>A","stop_gained","lc_lof",1,250440,3.99297236863121e-06,0,0,0,16240,0,0,0,34508,0,0,0,9978,0,0,0,18382,0,0,1,21580,0,0,0,113156,0,0,0,6108,0,0,0,30488,0,0]
["COX4I1","ENSG00000131143",16,85838545,"rs147346083","A","G","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","c.-37-2A>G",null,"c.-37-2A>G","splice_acceptor_variant","lc_lof",60,271386,0.00022108730737800003,0,0,53,24758,0,0,6,32094,0,0,0,9576,0,0,0,19414,0,0,0,24830,0,0,1,125344,0,0,0,6852,0,0,0,28518,0,0]
["COX4I1","ENSG00000131143",16,85838546,"rs139489638","G","A","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","c.-37-1G>A",null,"c.-37-1G>A","splice_acceptor_variant","lc_lof",2,275092,7.2702950285722595e-06,0,0,2,24844,0,0,0,33252,0,0,0,9856,0,0,0,19614,0,0,0,24928,0,0,0,126418,0,0,0,6990,0,0,0,29190,0,0]
["CPNE1","ENSG00000214078",20,34214724,"rs748150919","T","A","gnomAD_Exomes","PASS","NA","c.1237-2A>T",null,"c.1237-2A>T","splice_acceptor_variant","lof_flag",8,250820,3.189538314329e-05,0,0,0,16256,0,0,0,34588,0,0,0,10074,0,0,0,18394,0,0,0,21636,0,0,1,113128,0,0,0,6132,0,0,7,30612,0,0]
["CPNE1","ENSG00000214078",20,34214724,"rs748150919","T","C","gnomAD_Exomes","PASS","NA","c.1237-2A>G",null,"c.1237-2A>G","splice_acceptor_variant","lof_flag",1,250820,3.98692289291125e-06,0,0,0,16256,0,0,0,34588,0,0,0,10074,0,0,0,18394,0,0,0,21636,0,0,0,113128,0,0,0,6132,0,0,1,30612,0,0]
["CPNE1","ENSG00000214078",20,34214728,"rs749508294","G","C","gnomAD_Exomes","PASS","NA","c.1252-3C>G",null,"c.1252-3C>G","splice_region_variant","lc_lof,os_lof",1,250688,3.98902221087567e-06,0,0,0,16254,0,0,0,34590,0,0,0,10074,0,0,0,18394,0,0,0,21620,0,0,1,113012,0,0,0,6132,0,0,0,30612,0,0]
["CPNE1","ENSG00000214078",20,34215202,"rs753375834","C","T","gnomAD_Exomes","PASS","NA","c.1251G>A","c.1251G>A(p.=)","c.1251G>A","splice_region_variant","lc_lof,os_lof",8,250128,3.19836243843152e-05,0,0,0,16204,0,0,0,34454,0,0,0,10022,0,0,0,18330,0,0,0,21552,0,0,5,113000,0,0,0,6094,0,0,3,30472,0,0]
["CPNE1","ENSG00000214078",20,34218818,"rs764532013","C","A","gnomAD_Exomes","PASS","NA","c.1010+5G>T",null,"c.1010+5G>T","splice_region_variant","lc_lof,os_lof",1,243094,4.11363505475248e-06,0,0,0,16176,0,0,0,33844,0,0,0,8986,0,0,0,18348,0,0,0,20972,0,0,0,109894,0,0,0,5882,0,0,1,28992,0,0]
["CPNE1","ENSG00000214078",20,34219503,"rs759305088","G","C","gnomAD_Exomes","PASS","NA","c.643-3C>G",null,"c.643-3C>G","splice_region_variant","lc_lof,os_lof",1,251312,3.97911759088305e-06,0,0,0,16244,0,0,0,34568,0,0,0,10078,0,0,0,18392,0,0,0,21608,0,0,1,113680,0,0,0,6136,0,0,0,30606,0,0]
["CPNE1","ENSG00000214078",20,34214214,"rs752861422","G","A","gnomAD_Exomes","PASS","NA","p.Gln162Ter","p.Gln162Ter","c.483C>T","stop_gained","lc_lof",1,248044,4.03154279079518e-06,0,0,0,15448,0,0,1,34090,0,0,0,10026,0,0,0,18200,0,0,0,21152,0,0,0,112454,0,0,0,6096,0,0,0,30578,0,0]
["CPNE1","ENSG00000214078",20,34214170,"rs762726793","T","TG","gnomAD_Exomes","PASS","NA","p.Gln541ProfsTer34","p.Gln541ProfsTer34","c.1621dupC","frameshift_variant","lc_lof",2,251420,7.954816641476409e-06,0,0,0,16240,0,0,0,34592,0,0,0,10078,0,0,0,18392,0,0,0,21628,0,0,2,113738,0,0,0,6136,0,0,0,30616,0,0]
["CPSF3","ENSG00000119203",2,9565090,"rs112170843","G","A","gnomAD_Genomes","NA","PASS","c.-62+1G>A",null,"c.-62+1G>A","splice_donor_variant","lc_lof",25,31408,0.0007959755476310001,1,0,1,8716,0,0,1,848,0,0,13,290,1,0,0,1560,0,0,0,3476,0,0,7,15430,0,0,3,1088,0,0,0,0,0,0]
["CSAD","ENSG00000139631",12,53555176,"rs1369700255","G","C","gnomAD_Genomes","NA","PASS","c.784-3C>G",null,"c.784-3C>G","splice_region_variant","lc_lof,os_lof",1,31390,3.18572793883402e-05,0,0,0,8710,0,0,0,846,0,0,0,290,0,0,0,1560,0,0,0,3474,0,0,0,15422,0,0,1,1088,0,0,0,0,0,0]
["CSAD","ENSG00000139631",12,53553671,"rs1198556858","C","A","gnomAD_Exomes","PASS","NA","p.Glu433Asp","p.Glu433Asp","c.1299G>T","missense_variant","lc_lof,os_lof",1,222108,4.5023141894934e-06,0,0,0,13522,0,0,0,31948,0,0,0,9422,0,0,0,16990,0,0,0,19658,0,0,0,97292,0,0,0,5640,0,0,1,27636,0,0]
["CSAD","ENSG00000139631",12,53564208,"rs1447935342","T","C","gnomAD_Exomes","PASS","NA","p.Arg243Gly","p.Arg243Gly","c.727A>G","missense_variant","lc_lof,os_lof",1,251432,3.9772184924750995e-06,0,0,0,16252,0,0,0,34590,0,0,0,10078,0,0,0,18394,0,0,0,21644,0,0,1,113724,0,0,0,6134,0,0,0,30616,0,0]
["CSAD","ENSG00000139631",12,53554638,"rs1417258357","G","C","gnomAD_Exomes","PASS","NA","c.966-10C>G",null,"c.966-10C>G","intron_variant","lc_lof,os_lof",1,156422,6.39296262674048e-06,0,0,0,8774,0,0,0,24750,0,0,0,8512,0,0,0,11344,0,0,1,15370,0,0,0,60460,0,0,0,4422,0,0,0,22790,0,0]
["CSAD","ENSG00000139631",12,53567285,"rs763582847","T","C","gnomAD_Exomes","PASS","NA","c.-29-2A>G",null,"c.-29-2A>G","splice_acceptor_variant","lc_lof,lof_flag",2,251174,7.96260759473512e-06,0,0,0,16250,0,0,0,34576,0,0,0,10054,0,0,0,18392,0,0,0,21636,0,0,0,113524,0,0,0,6126,0,0,2,30616,0,0]
["CSAD","ENSG00000139631",12,53573550,"rs749359687","ATATCACC","A","gnomAD_Exomes","PASS","NA","c.-7_-7+6delGGTGATA",null,"c.-7_-7+6delGGTGATA","splice_donor_variant","lc_lof",3,248500,1.2072434607645901e-05,0,0,0,15426,0,0,3,34506,0,0,0,10038,0,0,0,17972,0,0,0,21336,0,0,0,112594,0,0,0,6042,0,0,0,30586,0,0]
["CSAD","ENSG00000139631",12,53552346,"rs768298379","A","AGT","gnomAD_Exomes","PASS","NA","p.Asp505LeufsTer13","p.Asp505LeufsTer13","c.1511_1512insAC","frameshift_variant","lc_lof",1,251076,3.98285778011439e-06,0,0,0,16158,0,0,0,34568,0,0,0,10074,0,0,0,18382,0,0,0,21638,0,0,1,113516,0,0,0,6124,0,0,0,30616,0,0]
["CTNNBL1","ENSG00000132792",20,36488751,"rs750066223","G","A","gnomAD_Exomes","PASS","NA","c.1603+5G>A",null,"c.1603+5G>A","splice_region_variant","lc_lof,os_lof",2,251442,7.95412063219351e-06,0,0,0,16256,0,0,0,34588,0,0,0,10080,0,0,0,18394,0,0,0,21638,0,0,2,113734,0,0,0,6136,0,0,0,30616,0,0]
["CTNNBL1","ENSG00000132792",20,36323327,"rs1398521033","A","G","gnomAD_Genomes","NA","PASS","c.-158-2A>G",null,"c.-158-2A>G","splice_acceptor_variant","lc_lof,lof_flag",1,31402,3.18451054072989e-05,0,0,0,8716,0,0,0,848,0,0,0,290,0,0,0,1560,0,0,0,3476,0,0,0,15424,0,0,1,1088,0,0,0,0,0,0]
["CUL2","ENSG00000108094",10,35363147,"rs758791361","CTG","C","gnomAD_Exomes","PASS","NA","p.Tyr2Ter","p.Tyr2Ter","c.6_7delCA","stop_gained","lof_flag",1,128414,7.787312909807339e-06,0,0,0,6092,0,0,0,24356,0,0,0,8098,0,0,0,10432,0,0,0,5386,0,0,0,47668,0,0,0,3998,0,0,1,22384,0,0]
["CUL2","ENSG00000108094",10,35363135,"rs770434536","G","C","gnomAD_Genomes","NA","PASS","p.Ser7Ter","p.Ser7Ter","c.20C>G","stop_gained","lof_flag",1,31376,3.18714941356451e-05,0,0,1,8696,0,0,0,846,0,0,0,290,0,0,0,1560,0,0,0,3476,0,0,0,15422,0,0,0,1086,0,0,0,0,0,0]
["DENND1C","ENSG00000205744",19,6467772,"rs1205522234","G","A","gnomAD_Exomes","PASS","NA","p.Gln717Ter","p.Gln717Ter","c.2149C>T","stop_gained","segdup,lc_lof",1,172460,5.79844601646759e-06,0,0,0,14206,0,0,0,20460,0,0,0,3468,0,0,0,15188,0,0,1,16420,0,0,0,84418,0,0,0,3956,0,0,0,14344,0,0]
["DENND1C","ENSG00000205744",19,6467643,"rs201488135","C","CGCGCTCTGCCA","gnomAD_Exomes","PASS","NA","p.Ala760TrpfsTer16","p.Ala760TrpfsTer16","c.2267_2277dupTGGCAGAGCGC","frameshift_variant","segdup,lc_lof",13,191014,6.80578386924519e-05,0,0,0,14360,0,0,10,23272,0,0,0,5402,0,0,0,15308,0,0,0,18552,0,0,2,91362,0,0,1,4364,0,0,0,18394,0,0]
["DENND1C","ENSG00000205744",19,6470301,"rs1157326206","C","G","gnomAD_Exomes","PASS","NA","c.1362+5G>C",null,"c.1362+5G>C","splice_region_variant","lc_lof,os_lof",1,235584,4.24477044281445e-06,0,0,0,14026,0,0,0,32838,0,0,0,9754,0,0,0,17152,0,0,0,20752,0,0,1,106678,0,0,0,5772,0,0,0,28612,0,0]
["DENND1C","ENSG00000205744",19,6480065,"rs1294269336","G","T","gnomAD_Genomes","NA","PASS","c.18-3C>A",null,"c.18-3C>A","splice_region_variant","lc_lof,os_lof",1,31382,3.18654005480849e-05,0,0,0,8706,0,0,0,848,0,0,0,290,0,0,0,1558,0,0,0,3472,0,0,1,15420,0,0,0,1088,0,0,0,0,0,0]
["DET1","ENSG00000140543",15,89074523,"rs1376992851","C","T","gnomAD_Exomes","PASS","NA","c.274+5G>A",null,"c.274+5G>A","splice_region_variant","lc_lof,os_lof",1,249048,4.01529022517748e-06,0,0,0,15480,0,0,1,34502,0,0,0,10062,0,0,0,17968,0,0,0,21544,0,0,0,112848,0,0,0,6052,0,0,0,30592,0,0]
["DET1","ENSG00000140543",15,89073854,"rs773196851","C","A","gnomAD_Exomes","PASS","NA","p.Gln372His","p.Gln372His","c.1116G>T","missense_variant","lc_lof,os_lof",1,236170,4.2342380488631105e-06,0,0,0,15386,0,0,0,33340,0,0,0,8552,0,0,0,17898,0,0,0,20632,0,0,1,106950,0,0,0,5702,0,0,0,27710,0,0]
["DHRS7B","ENSG00000109016",17,21094258,"rs760825417","T","G","gnomAD_Exomes","PASS","NA","c.773-3T>G",null,"c.773-3T>G","splice_region_variant","lc_lof,os_lof",1,251046,3.98333373166671e-06,0,0,0,16254,0,0,0,34470,0,0,0,10064,0,0,0,18380,0,0,0,21638,0,0,1,113526,0,0,0,6124,0,0,0,30590,0,0]
["DSTN","ENSG00000125868",20,17587777,"rs1240975432","G","T","gnomAD_Exomes","PASS","NA","p.Gly162Ter","p.Gly162Ter","c.484G>T","stop_gained","segdup,lc_lof",2,251232,7.960769328747929e-06,0,0,0,16252,0,0,0,34522,0,0,1,10076,0,0,0,18390,0,0,0,21630,0,0,1,113638,0,0,0,6128,0,0,0,30596,0,0]
["DYDC2","ENSG00000133665",10,82122829,"rs761700638","G","A","gnomAD_Exomes","PASS","NA","c.312G>A","c.312G>A(p.=)","c.312G>A","splice_region_variant","lc_lof,os_lof",1,248174,4.0294309637593e-06,0,0,0,16224,0,0,1,34122,0,0,0,9924,0,0,0,18350,0,0,0,21442,0,0,0,112564,0,0,0,6040,0,0,0,29508,0,0]
["DYDC2","ENSG00000133665",10,82126531,"rs1453487667","G","T","gnomAD_Exomes","PASS","NA","p.Glu134Ter","p.Glu134Ter","c.400G>T","stop_gained","lc_lof",1,251456,3.97683889030288e-06,0,0,0,16254,0,0,0,34586,0,0,1,10080,0,0,0,18394,0,0,0,21646,0,0,0,113740,0,0,0,6140,0,0,0,30616,0,0]
["DYDC2","ENSG00000133665",10,82112374,"rs1163108697","G","A","gnomAD_Exomes","PASS","NA","c.-347+1G>A",null,"c.-347+1G>A","splice_donor_variant","lc_lof",1,230074,4.34642767109713e-06,0,0,0,15256,0,0,0,28422,0,0,0,8814,0,0,0,17132,0,0,0,21240,0,0,1,107590,0,0,0,5530,0,0,0,26090,0,0]
["DYDC2","ENSG00000133665",10,82126539,"rs1404038185","GC","G","gnomAD_Exomes","PASS","NA","p.Pro137GlnfsTer6","p.Pro137GlnfsTer6","c.410delC","frameshift_variant","lc_lof",1,251444,3.97702868233086e-06,0,0,0,16254,0,0,0,34586,0,0,0,10080,0,0,0,18394,0,0,0,21644,0,0,0,113730,0,0,0,6140,0,0,1,30616,0,0]
["EFR3A","ENSG00000132294",8,132980682,"rs1265905164","G","A","gnomAD_Exomes","PASS","NA","c.991+5G>A",null,"c.991+5G>A","splice_region_variant","lc_lof,os_lof",1,250588,3.99061407569397e-06,0,0,0,16238,0,0,1,34428,0,0,0,10046,0,0,0,18380,0,0,0,21592,0,0,0,113242,0,0,0,6106,0,0,0,30556,0,0]
["EFR3A","ENSG00000132294",8,133014058,"rs760923590","A","G","gnomAD_Exomes","PASS","NA","c.2206+4A>G",null,"c.2206+4A>G","splice_region_variant","lc_lof,os_lof",1,250682,3.98911768695e-06,0,0,0,16236,0,0,1,34516,0,0,0,10064,0,0,0,18392,0,0,0,21608,0,0,0,113196,0,0,0,6110,0,0,0,30560,0,0]
["EFR3A","ENSG00000132294",8,133014058,"rs760923590","A","T","gnomAD_Exomes","PASS","NA","c.2206+4A>T",null,"c.2206+4A>T","splice_region_variant","lc_lof,os_lof",1,250682,3.98911768695e-06,0,0,0,16236,0,0,0,34516,0,0,0,10064,0,0,0,18392,0,0,0,21608,0,0,0,113196,0,0,1,6110,0,0,0,30560,0,0]
["EFR3A","ENSG00000132294",8,133023137,"rs1383603200","TA","T","gnomAD_Genomes","NA","PASS","p.Tyr821SerfsTer13","p.Tyr821SerfsTer13","c.2462delA","frameshift_variant","lc_lof",1,31396,3.1851191234552205e-05,0,0,1,8714,0,0,0,848,0,0,0,290,0,0,0,1558,0,0,0,3476,0,0,0,15422,0,0,0,1088,0,0,0,0,0,0]
["EHD1","ENSG00000110047",11,64647098,"rs1426517860","TC","T","gnomAD_Exomes","PASS","NA","p.Glu2AsnfsTer91","p.Glu2AsnfsTer91","c.4delG","frameshift_variant","lof_flag",2,151020,1.3243279035889301e-05,0,0,0,7074,0,0,2,24586,0,0,0,8402,0,0,0,10786,0,0,0,17022,0,0,0,56188,0,0,0,4426,0,0,0,22536,0,0]
["EIF5A","ENSG00000132507",17,7210432,"rs1375756802","CGT","C","gnomAD_Exomes","PASS","NA","c.69+2_69+3delTG",null,"c.69+2_69+3delTG","frameshift_variant","lof_flag",1,224302,4.45827500423536e-06,0,0,0,13446,0,0,0,30376,0,0,0,9584,0,0,0,16344,0,0,0,20190,0,0,1,102086,0,0,0,5552,0,0,0,26724,0,0]
["EIF5A","ENSG00000132507",17,7211433,"rs1467660469","G","T","gnomAD_Genomes","NA","PASS","c.-22+1G>T",null,"c.-22+1G>T","splice_donor_variant","lc_lof",1,30240,3.3068783068783105e-05,0,0,0,8370,0,0,0,830,0,0,0,288,0,0,0,1516,0,0,0,3400,0,0,1,14792,0,0,0,1044,0,0,0,0,0,0]
["ELOF1","ENSG00000130165",19,11664632,"rs776644214","C","A","gnomAD_Exomes","PASS","NA","c.188-2G>T",null,"c.188-2G>T","splice_acceptor_variant","lc_lof,lof_flag",1,250746,3.988099511059e-06,0,0,0,16256,0,0,0,34592,0,0,0,10074,0,0,1,18392,0,0,0,21646,0,0,0,113036,0,0,0,6134,0,0,0,30616,0,0]
["ELOF1","ENSG00000130165",19,11664768,"rs770288417","GGTCCGGACTCCAGCCCC","G","gnomAD_Exomes","PASS","NA","p.Arg76SerfsTer24","p.Arg76SerfsTer24","c.228_244delGGGGCTGGAGTCCGGAC","frameshift_variant","lc_lof",1,250984,3.9843177254327e-06,0,0,0,16162,0,0,0,34582,0,0,0,10064,0,0,0,18392,0,0,0,21630,0,0,0,113424,0,0,0,6122,0,0,1,30608,0,0]
["ENY2","ENSG00000120533",8,110352715,"rs776068919","A","G","gnomAD_Exomes","PASS","NA","c.155-3A>G",null,"c.155-3A>G","splice_region_variant","lc_lof,os_lof",1,248996,4.01612877315298e-06,0,0,0,15464,0,0,1,34444,0,0,0,10056,0,0,0,17970,0,0,0,21554,0,0,0,112948,0,0,0,6034,0,0,0,30526,0,0]
["ETF1","ENSG00000120705",5,137854381,"rs1212211096","C","T","gnomAD_Exomes","PASS","NA","p.Val88Ile","p.Val88Ile","c.262G>A","missense_variant","segdup,lc_lof,os_lof",1,250466,3.99255787212636e-06,0,0,0,16244,0,0,0,34308,0,0,1,10038,0,0,0,18386,0,0,0,21614,0,0,0,113356,0,0,0,6096,0,0,0,30424,0,0]
["FAIM","ENSG00000158234",3,138329864,"rs964851671","ACT","A","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Ser23CysfsTer25","p.Ser23CysfsTer25","c.68_69delCT","frameshift_variant","lof_flag",6,282798,2.1216557401396e-05,0,0,0,24944,0,0,6,35436,0,0,0,10368,0,0,0,19954,0,0,0,25112,0,0,0,129144,0,0,0,7226,0,0,0,30614,0,0]
["FAIM","ENSG00000158234",3,138329879,"rs761154458","G","C","gnomAD_Exomes","PASS","NA","p.Ser27Thr","p.Ser27Thr","c.80G>C","missense_variant","lc_lof,os_lof",1,251382,3.97800956313499e-06,0,0,0,16256,0,0,1,34582,0,0,0,10078,0,0,0,18392,0,0,0,21640,0,0,0,113682,0,0,0,6136,0,0,0,30616,0,0]
["FAIM","ENSG00000158234",3,138351882,null,"C","CT","gnomAD_Exomes","PASS","NA","p.Ile202TyrfsTer4","p.Ile202TyrfsTer4","c.603_604insT","frameshift_variant","lc_lof",1,251092,3.98260398579007e-06,0,0,0,16238,0,0,0,34480,0,0,0,10068,0,0,0,18386,0,0,0,21640,0,0,1,113590,0,0,0,6122,0,0,0,30568,0,0]
["FANK1","ENSG00000203780",10,127693621,"rs750890907","A","T","gnomAD_Exomes","PASS","NA","c.705+3A>T",null,"c.705+3A>T","splice_region_variant","lc_lof,os_lof",3,250366,1.1982457681953602e-05,0,0,0,16252,0,0,3,34476,0,0,0,10016,0,0,0,18382,0,0,0,21600,0,0,0,112968,0,0,0,6108,0,0,0,30564,0,0]
["FANK1","ENSG00000203780",10,127697960,"rs373107814","G","T","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Glu331Ter","p.Glu331Ter","c.991G>T","stop_gained","lc_lof",5,282524,1.7697611530347903e-05,0,0,5,24920,0,0,0,35406,0,0,0,10360,0,0,0,19938,0,0,0,25082,0,0,0,128994,0,0,0,7220,0,0,0,30604,0,0]
["FANK1","ENSG00000203780",10,127677328,"rs1461868776","T","TAAGAAAAATA","gnomAD_Genomes","NA","PASS","p.Phe128Ter","p.Phe128Ter","c.382_383insAAGAAAAATA","stop_gained","lc_lof",1,31404,3.18430773149917e-05,0,0,1,8712,0,0,0,848,0,0,0,290,0,0,0,1556,0,0,0,3476,0,0,0,15434,0,0,0,1088,0,0,0,0,0,0]
["FANK1","ENSG00000203780",10,127697826,"rs780972622","TGACA","T","gnomAD_Exomes","PASS","NA","p.Gln324ValfsTer2","p.Gln324ValfsTer2","c.969_972delACAG","frameshift_variant","lc_lof",2,251482,7.952855472757489e-06,0,0,0,16256,0,0,0,34586,0,0,0,10080,0,0,0,18394,0,0,0,21648,0,0,2,113766,0,0,0,6136,0,0,0,30616,0,0]
["FANK1","ENSG00000203780",10,127697821,"rs757243785","GT","G","gnomAD_Exomes","PASS","NA","p.Phe321LeufsTer6","p.Phe321LeufsTer6","c.963delT","frameshift_variant","lc_lof",1,251472,3.97658586244194e-06,0,0,0,16254,0,0,0,34584,0,0,0,10080,0,0,0,18394,0,0,0,21646,0,0,1,113762,0,0,0,6136,0,0,0,30616,0,0]
["FANK1","ENSG00000203780",10,127697966,"rs748958541","A","AG","gnomAD_Exomes","PASS","NA","p.Lys334GlufsTer30","p.Lys334GlufsTer30","c.999dupG","frameshift_variant","lc_lof",1,251356,3.978421044255959e-06,0,0,0,16250,0,0,0,34564,0,0,0,10074,0,0,0,18388,0,0,0,21648,0,0,1,113678,0,0,0,6138,0,0,0,30616,0,0]
["FBXO5","ENSG00000112029",6,153293570,"rs1385408031","G","GA","gnomAD_Genomes","NA","PASS","p.Ser310PhefsTer41","p.Ser310PhefsTer41","c.928dupT","frameshift_variant","lof_flag",1,31384,3.1863369869997405e-05,0,0,0,8710,0,0,0,848,0,0,0,290,0,0,0,1560,0,0,0,3474,0,0,1,15418,0,0,0,1084,0,0,0,0,0,0]
["FBXO9","ENSG00000112146",6,52959600,"rs995858937","CAGAG","C","gnomAD_Exomes","PASS","NA","p.Glu99ValfsTer86","p.Glu99ValfsTer86","c.295_298delAGAG","frameshift_variant","lof_flag",2,117210,1.70633904956915e-05,0,0,0,5098,0,0,0,20040,0,0,0,7818,0,0,1,8468,0,0,0,5132,0,0,1,46956,0,0,0,3552,0,0,0,20146,0,0]
["FBXO9","ENSG00000112146",6,52947298,"rs1337208913","GC","G","gnomAD_Genomes","NA","PASS","c.569-3delC",null,"c.569-3delC","splice_region_variant","lc_lof,os_lof",1,31404,3.18430773149917e-05,0,0,0,8716,0,0,0,848,0,0,0,290,0,0,0,1558,0,0,0,3474,0,0,0,15430,0,0,1,1088,0,0,0,0,0,0]
["FBXO9","ENSG00000112146",6,52962980,"rs763948639","AC","A","gnomAD_Exomes","PASS","NA","p.Thr150AsnfsTer7","p.Thr150AsnfsTer7","c.449delC","frameshift_variant","lc_lof",1,117702,8.4960323528912e-06,0,0,0,4864,0,0,0,19206,0,0,0,8056,0,0,0,8260,0,0,0,5130,0,0,0,49678,0,0,0,3466,0,0,1,19042,0,0]
["FCF1","ENSG00000119616",14,75182806,"rs1181802333","A","T","gnomAD_Exomes","PASS","NA","c.292+4A>T",null,"c.292+4A>T","splice_region_variant","lc_lof,os_lof",1,250824,3.98685931170861e-06,0,0,0,16234,0,0,0,34494,0,0,0,10070,0,0,0,18382,0,0,0,21636,0,0,1,113376,0,0,0,6118,0,0,0,30514,0,0]
["FUOM","ENSG00000148803",10,135169319,"rs762625456","GAAGACAAAATGGCAGGGTTGGAGGGAACCCTGCC","G","gnomAD_Exomes","PASS","NA","c.325-38_325-5delGGCAGGGTTCCCTCCAACCCTGCCATTTTGTCTT",null,"c.325-38_325-5delGGCAGGGTTCCCTCCAACCCTGCCATTTTGTCTT","splice_region_variant","lc_lof,os_lof",2,250616,7.98033645098477e-06,0,0,0,16184,0,0,0,34570,0,0,0,10032,0,0,0,18386,0,0,0,21642,0,0,0,113062,0,0,0,6128,0,0,2,30612,0,0]
["G2E3","ENSG00000092140",14,31081450,"rs1411517867","TAATA","T","gnomAD_Exomes","PASS","NA","p.Ile514MetfsTer9","p.Ile514MetfsTer9","c.1542_1545delAAAT","frameshift_variant","segdup,lof_flag",1,250638,3.98981798450355e-06,0,0,1,16238,0,0,0,34232,0,0,0,10070,0,0,0,18390,0,0,0,21642,0,0,0,113520,0,0,0,6094,0,0,0,30452,0,0]
["G2E3","ENSG00000092140",14,31029987,"rs1403150451","TCA","T","gnomAD_Exomes","PASS","NA","p.Ser9Ter","p.Ser9Ter","c.26_27delCA","frameshift_variant","lof_flag",2,127902,1.5636972056730902e-05,0,0,0,6078,0,0,0,24290,0,0,0,8092,0,0,0,10430,0,0,0,5382,0,0,2,47274,0,0,0,3986,0,0,0,22370,0,0]
["GAB2","ENSG00000033327",11,77938100,"rs766487672","A","C","gnomAD_Exomes","PASS","NA","c.621-3T>G",null,"c.621-3T>G","splice_region_variant","lc_lof,os_lof",1,242804,4.1185482940973e-06,0,0,0,16048,0,0,0,34384,0,0,0,9986,0,0,0,18226,0,0,0,17960,0,0,0,109684,0,0,0,6044,0,0,1,30472,0,0]
["GAPDH","ENSG00000111640",12,6643737,"rs1342163356","T","G","gnomAD_Genomes","NA","PASS","c.-24+2T>G",null,"c.-24+2T>G","splice_donor_variant","segdup,lc_lof",1,31352,3.1895891809135e-05,0,0,1,8696,0,0,0,848,0,0,0,290,0,0,0,1558,0,0,0,3472,0,0,0,15404,0,0,0,1084,0,0,0,0,0,0]
["GNL3","ENSG00000163938",3,52728250,"rs751688839","G","GA","gnomAD_Exomes","PASS","NA","p.Glu538ArgfsTer3","p.Glu538ArgfsTer3","c.1611dupA","frameshift_variant","segdup,lc_lof",2,251004,7.96800050995203e-06,0,0,0,16082,0,0,0,34556,0,0,0,10072,0,0,0,18394,0,0,0,21640,0,0,2,113546,0,0,0,6106,0,0,0,30608,0,0]
["GNL3","ENSG00000163938",3,52721554,"rs1377257661","C","T","gnomAD_Exomes","PASS","NA","p.Gln83Ter","p.Gln83Ter","c.247C>T","stop_gained","lof_flag",1,251382,3.97800956313499e-06,0,0,0,16236,0,0,0,34572,0,0,0,10080,0,0,0,18394,0,0,1,21648,0,0,0,113704,0,0,0,6136,0,0,0,30612,0,0]
["GNL3","ENSG00000163938",3,52727750,"rs552080737","GGAAA","G","gnomAD_Exomes","PASS","NA","p.Glu478GlyfsTer100","p.Glu478GlyfsTer100","c.1433_1436delAAAG","frameshift_variant","lof_flag",3,251228,1.19413441176939e-05,0,0,0,16148,0,0,0,34588,0,0,0,10080,0,0,0,18394,0,0,0,21646,0,0,0,113632,0,0,0,6124,0,0,3,30616,0,0]
["GNL3","ENSG00000163938",3,52728087,"rs750614669","CAG","C","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Glu514GlyfsTer4","p.Glu514GlyfsTer4","c.1536_1537delAG","frameshift_variant","lc_lof,lof_flag",13,282836,4.5963031580138305e-05,0,0,0,24970,0,0,0,35432,0,0,0,10368,0,0,0,19950,0,0,0,25124,0,0,12,129150,0,0,0,7226,0,0,1,30616,0,0]
["GNL3","ENSG00000163938",3,52720219,"rs1468774710","G","T","gnomAD_Genomes","NA","PASS","c.-24+1G>T",null,"c.-24+1G>T","splice_donor_variant","lc_lof",1,31390,3.18572793883402e-05,0,0,0,8718,0,0,0,848,0,0,0,290,0,0,0,1558,0,0,0,3468,0,0,1,15420,0,0,0,1088,0,0,0,0,0,0]
["GNLY","ENSG00000115523",2,85922519,"rs757465982","C","A","gnomAD_Exomes","PASS","NA","p.Cys43Ter","p.Cys43Ter","c.129C>A","stop_gained","lof_flag",3,251232,1.19411539931219e-05,0,0,1,16238,0,0,2,34572,0,0,0,10076,0,0,0,18394,0,0,0,21618,0,0,0,113608,0,0,0,6124,0,0,0,30602,0,0]
["GNLY","ENSG00000115523",2,85922514,"rs752291485","TC","T","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Cys43AlafsTer14","p.Cys43AlafsTer14","c.126delC","frameshift_variant","lof_flag",469,282658,0.001659248986408,1,0,23,24956,0,0,50,35426,0,0,7,10366,0,0,0,19952,0,0,5,25100,0,0,374,129036,1,0,10,7218,0,0,0,30604,0,0]
["GNLY","ENSG00000115523",2,85925749,"rs748816068","CG","C","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Asn149ThrfsTer23","p.Asn149ThrfsTer23","c.443delG","frameshift_variant","lc_lof,lof_flag",31,282312,0.00010980758876700001,0,0,0,24964,0,0,6,35430,0,0,0,10368,0,0,0,19946,0,0,0,24760,0,0,19,129014,0,0,1,7214,0,0,5,30616,0,0]
["GPR6","ENSG00000146360",6,110300010,"rs940167009","G","A","gnomAD_Exomes","PASS","NA","c.27+5G>A",null,"c.27+5G>A","splice_region_variant","lc_lof,os_lof",1,128902,7.757831530930469e-06,0,0,0,6104,0,0,0,24362,0,0,0,8112,0,0,0,10442,0,0,0,5396,0,0,1,48082,0,0,0,4018,0,0,0,22386,0,0]
["GPR89A","ENSG00000117262",1,145771632,"rs369231904","T","A","gnomAD_Exomes","PASS","NA","c.1005+3A>T",null,"c.1005+3A>T","splice_region_variant","segdup,lc_lof,os_lof",2,246184,8.12400480941085e-06,0,0,0,16086,0,0,0,33150,0,0,0,9816,0,0,0,18218,0,0,0,21446,0,0,2,111970,0,0,0,5974,0,0,0,29524,0,0]
["GPR89A","ENSG00000117262",1,145812005,null,"G","C","gnomAD_Genomes","NA","PASS","c.207-3C>G",null,"c.207-3C>G","splice_region_variant","segdup,lc_lof,os_lof",1,30660,3.26157860404436e-05,0,0,0,8628,0,0,0,820,0,0,0,262,0,0,0,1548,0,0,0,3420,0,0,1,14946,0,0,0,1036,0,0,0,0,0,0]
["GPR89A","ENSG00000117262",1,145765078,null,"T","TAG","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Ser437LeufsTer29","p.Ser437LeufsTer29","c.1307_1308dupCT","frameshift_variant","segdup,lc_lof",2,82954,2.41097475709429e-05,0,0,1,12966,0,0,0,11262,0,0,0,1734,0,0,0,9278,0,0,0,4158,0,0,1,34636,0,0,0,2832,0,0,0,6088,0,0]
["GRIA2","ENSG00000120251",4,158141878,"rs1224991515","G","A","gnomAD_Genomes","NA","PASS","c.-54+1G>A",null,"c.-54+1G>A","splice_donor_variant","lcr,lc_lof",2,31318,6.38610383804841e-05,0,0,2,8686,0,0,0,842,0,0,0,290,0,0,0,1558,0,0,0,3464,0,0,0,15394,0,0,0,1084,0,0,0,0,0,0]
["GTF2A1","ENSG00000165417","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA"]
["GZMM","ENSG00000197540",19,549752,"rs141658632","C","G","gnomAD_Exomes","PASS","NA","p.Tyr245Ter","p.Tyr245Ter","c.735C>G","stop_gained","lc_lof",1,250728,3.98838582049073e-06,0,0,0,16234,0,0,0,34554,0,0,0,10056,0,0,0,18376,0,0,0,21384,0,0,1,113388,0,0,0,6120,0,0,0,30616,0,0]
["GZMM","ENSG00000197540",19,549179,"rs1273518214","C","CT","gnomAD_Exomes","PASS","NA","p.Cys203LeufsTer4","p.Cys203LeufsTer4","c.607dupT","frameshift_variant","lc_lof",1,178120,5.61419267909275e-06,0,0,0,10210,0,0,0,27158,0,0,0,8552,0,0,0,13968,0,0,1,16248,0,0,0,72820,0,0,0,4758,0,0,0,24406,0,0]
["HAO2","ENSG00000116882",1,119923347,"rs1460270011","G","C","gnomAD_Exomes","PASS","NA","c.31+1G>C",null,"c.31+1G>C","splice_donor_variant","lof_flag",1,243428,4.10799086382832e-06,0,0,0,14272,0,0,0,34340,0,0,0,9914,0,0,0,17792,0,0,0,21522,0,0,1,109302,0,0,0,5972,0,0,0,30314,0,0]
["HAO2","ENSG00000116882",1,119935233,"rs772683912","G","A","gnomAD_Exomes","PASS","NA","c.931-8G>A",null,"c.931-8G>A","splice_region_variant","lc_lof",3,250970,1.1953619954576201e-05,0,0,0,16252,0,0,0,34548,0,0,0,10068,0,0,1,18338,0,0,0,21646,0,0,0,113388,0,0,0,6120,0,0,2,30610,0,0]
["HAO2","ENSG00000116882",1,119936413,"rs770017018","CG","C","gnomAD_Exomes","PASS","NA","p.Ser337ArgfsTer95","p.Ser337ArgfsTer95","c.1008delG","frameshift_variant","lc_lof",1,250896,3.9857151967349005e-06,0,0,0,16254,0,0,0,34564,0,0,0,10072,0,0,0,18376,0,0,0,21646,0,0,0,113236,0,0,0,6134,0,0,1,30614,0,0]
["HCFC1R1","ENSG00000103145",16,3073000,"rs562186380","C","G","gnomAD_Exomes","PASS","NA","c.282-1G>C",null,"c.282-1G>C","splice_acceptor_variant","lof_flag",1,233000,4.29184549356223e-06,0,0,0,15322,0,0,1,29876,0,0,0,9122,0,0,0,16160,0,0,0,21312,0,0,0,107126,0,0,0,5624,0,0,0,28458,0,0]
["HCFC1R1","ENSG00000103145",16,3072972,"rs778153325","C","T","gnomAD_Exomes","PASS","NA","p.Trp103Ter","p.Trp103Ter","c.309G>A","stop_gained","lc_lof",1,229832,4.35100421177208e-06,0,0,0,15008,0,0,0,29328,0,0,0,8962,0,0,0,15564,0,0,0,21296,0,0,1,106090,0,0,0,5542,0,0,0,28042,0,0]
["HTATIP2","ENSG00000109854",11,20398124,"rs748008659","A","G","gnomAD_Exomes","PASS","NA","c.406-2A>G",null,"c.406-2A>G","splice_acceptor_variant","lof_flag",4,251104,1.59296546450873e-05,0,0,0,16252,0,0,0,34402,0,0,0,10070,0,0,0,18382,0,0,0,21636,0,0,0,113650,0,0,0,6132,0,0,4,30580,0,0]
["HTATIP2","ENSG00000109854",11,20385297,"rs879743684","T","C","gnomAD_Genomes","NA","PASS","c.-2+2T>C",null,"c.-2+2T>C","splice_donor_variant","lc_lof",2,31310,6.387735547748321e-05,0,0,0,8680,0,0,0,848,0,0,0,288,0,0,0,1560,0,0,0,3470,0,0,2,15384,0,0,0,1080,0,0,0,0,0,0]
["HTATIP2","ENSG00000109854",11,20388882,"rs775585367","C","CT","gnomAD_Exomes","PASS","NA","p.Leu123AlafsTer73","p.Leu123AlafsTer73","c.362dupT","frameshift_variant","lc_lof",1,244686,4.0868705197681895e-06,0,0,0,15838,0,0,0,34022,0,0,0,9696,0,0,0,17960,0,0,0,21556,0,0,1,109778,0,0,0,5884,0,0,0,29952,0,0]
["HUS1","ENSG00000136273",7,48018009,"rs773571934","C","T","gnomAD_Exomes","PASS","NA","c.357+5G>A",null,"c.357+5G>A","splice_region_variant","lc_lof,os_lof",1,251110,3.9823185058341e-06,0,0,0,16254,0,0,0,34536,0,0,0,10066,0,0,0,18388,0,0,0,21632,0,0,0,113508,0,0,0,6126,0,0,1,30600,0,0]
["HUS1","ENSG00000136273",7,48019017,"rs761494935","C","G","gnomAD_Exomes","PASS","NA","c.-12+1G>C",null,"c.-12+1G>C","splice_donor_variant","lc_lof",11,243476,4.5178990947773105e-05,0,0,0,15746,0,0,0,34118,0,0,0,9926,0,0,0,18128,0,0,0,20266,0,0,1,109002,0,0,0,5948,0,0,10,30342,0,0]
["HUS1","ENSG00000136273",7,48019017,"rs761494935","C","T","gnomAD_Exomes","PASS","NA","c.-12+1G>A",null,"c.-12+1G>A","splice_donor_variant","lc_lof",1,243476,4.1071809952521e-06,0,0,0,15746,0,0,0,34118,0,0,0,9926,0,0,0,18128,0,0,0,20266,0,0,1,109002,0,0,0,5948,0,0,0,30342,0,0]
["HVCN1","ENSG00000122986",12,111072203,"rs1389438515","C","T","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Gln239Ter","p.Gln239Ter","c.715C>T","stop_gained","lof_flag",2,165082,1.21151912382937e-05,0,0,0,14974,0,0,0,25192,0,0,0,8508,0,0,0,11996,0,0,1,10114,0,0,0,66704,0,0,1,5196,0,0,0,22398,0,0]
["HVCN1","ENSG00000122986",12,111072261,"rs1373421785","C","G","gnomAD_Exomes","PASS","NA","p.Ser258Ter","p.Ser258Ter","c.773C>G","stop_gained","lof_flag",1,130730,7.6493536296183e-06,0,0,0,6248,0,0,0,24178,0,0,0,8128,0,0,0,10448,0,0,0,5742,0,0,1,49656,0,0,0,4030,0,0,0,22300,0,0]
["HVCN1","ENSG00000122986",12,111080052,"rs1352355036","A","G","gnomAD_Exomes","PASS","NA","c.1191-2A>G",null,"c.1191-2A>G","splice_acceptor_variant","lof_flag",1,249494,4.008112419537139e-06,0,0,0,15484,0,0,0,34516,0,0,0,10066,0,0,0,17976,0,0,0,21562,0,0,0,113234,0,0,0,6062,0,0,1,30594,0,0]
["HVCN1","ENSG00000122986",12,111086895,"rs763873061","CTG","C","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Cys61TyrfsTer4","p.Cys61TyrfsTer4","c.182_183delGT","frameshift_variant","lc_lof,lof_flag",3,165464,1.8130832084320504e-05,0,0,3,15124,0,0,0,24500,0,0,0,8528,0,0,0,12140,0,0,0,8888,0,0,0,69634,0,0,0,5204,0,0,0,21446,0,0]
["HVCN1","ENSG00000122986",12,111086885,"rs1381946267","A","AATTTGAAAACTGTACATTCGGTGAG","gnomAD_Exomes","PASS","NA","p.Lys67Ter","p.Lys67Ter","c.194_195insGATTTGAAAACTGTACATTCGGTGA","frameshift_variant","lc_lof,lof_flag",2,134300,1.4892032762472101e-05,0,0,0,6410,0,0,0,23794,0,0,0,8246,0,0,0,10580,0,0,0,5414,0,0,2,54156,0,0,0,4112,0,0,0,21588,0,0]
["HVCN1","ENSG00000122986",12,111084999,"rs1475200635","A","G","gnomAD_Exomes","PASS","NA","c.1495-2A>G",null,"c.1495-2A>G","splice_acceptor_variant","lc_lof",2,249510,8.01571079315458e-06,0,0,1,15486,0,0,0,34528,0,0,0,10072,0,0,0,17976,0,0,0,21558,0,0,1,113228,0,0,0,6060,0,0,0,30602,0,0]
["HVCN1","ENSG00000122986",12,111066816,"rs1424886899","TG","T","gnomAD_Exomes","PASS","NA","p.Glu240ArgfsTer4","p.Glu240ArgfsTer4","c.718delG","frameshift_variant","lc_lof",1,215776,4.63443571110781e-06,0,0,0,13724,0,0,0,31342,0,0,0,9480,0,0,0,16316,0,0,0,14956,0,0,1,96344,0,0,0,5534,0,0,0,28080,0,0]
["IDNK","ENSG00000148057",9,86243848,"rs539693261","G","A","gnomAD_Exomes","PASS","NA","p.Trp37Ter","p.Trp37Ter","c.111G>A","stop_gained","lof_flag",1,251438,3.97712358513829e-06,0,0,0,16256,0,0,0,34578,0,0,0,10080,0,0,0,18394,0,0,0,21636,0,0,0,113740,0,0,0,6140,0,0,1,30614,0,0]
["IDNK","ENSG00000148057",9,86238386,"rs936441042","CGCAGGCT","C","gnomAD_Genomes","NA","PASS","p.Arg43ProfsTer69","p.Arg43ProfsTer69","c.128_134delGCAGGCT","frameshift_variant","lof_flag",1,31338,3.19101410428234e-05,0,0,0,8682,0,0,0,848,0,0,0,288,0,0,0,1558,0,0,0,3474,0,0,1,15400,0,0,0,1088,0,0,0,0,0,0]
["IDNK","ENSG00000148057",9,86258693,"rs756205307","TG","T","gnomAD_Exomes","PASS","NA","p.Ter188Tyr","p.Ter188Tyr","c.563delG","frameshift_variant","lc_lof",1,246232,4.06121056564541e-06,0,0,0,15442,0,0,0,33834,0,0,0,9760,0,0,0,18120,0,0,0,21050,0,0,1,112072,0,0,0,5958,0,0,0,29996,0,0]
["ILF2","ENSG00000143621",1,153639982,null,"A","C","gnomAD_Exomes","PASS","NA","p.Leu148Ter","p.Leu148Ter","c.443T>G","stop_gained","lc_lof",1,245164,4.078902285816839e-06,0,0,1,16154,0,0,0,32672,0,0,0,9784,0,0,0,18092,0,0,0,21552,0,0,0,111966,0,0,0,5962,0,0,0,28982,0,0]
["ILF2","ENSG00000143621",1,153640022,"rs748142872","C","CCA","gnomAD_Exomes","PASS","NA","p.Ala135TrpfsTer11","p.Ala135TrpfsTer11","c.402_403insTG","frameshift_variant","lc_lof",2,251452,7.95380430459889e-06,0,0,0,16256,0,0,2,34584,0,0,0,10080,0,0,0,18394,0,0,0,21638,0,0,0,113746,0,0,0,6138,0,0,0,30616,0,0]
["INTS2","ENSG00000108506",17,59958365,"rs1258524921","T","C","gnomAD_Exomes","PASS","NA","c.2278+3A>G",null,"c.2278+3A>G","splice_region_variant","lc_lof,os_lof",1,248566,4.02307636603558e-06,0,0,0,15474,0,0,0,34424,0,0,0,10010,0,0,0,17972,0,0,0,21524,0,0,1,112632,0,0,0,6028,0,0,0,30502,0,0]
["INTS2","ENSG00000108506",17,59984865,"rs989002476","T","C","gnomAD_Exomes","PASS","NA","p.Asn370Ser","p.Asn370Ser","c.1109A>G","missense_variant","lc_lof,os_lof",1,229248,4.362088218872139e-06,0,0,0,13792,0,0,1,32180,0,0,0,9532,0,0,0,16944,0,0,0,20612,0,0,0,103366,0,0,0,5712,0,0,0,27110,0,0]
["INTS9","ENSG00000104299",8,28635346,"rs373909305","C","T","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","c.1395G>A","c.1395G>A(p.=)","c.1395G>A","splice_region_variant","lc_lof,os_lof",3,271262,1.1059418569501102e-05,0,0,2,24396,0,0,0,32642,0,0,0,9778,0,0,0,18838,0,0,0,24886,0,0,1,124850,0,0,0,6822,0,0,0,29050,0,0]
["INTS9","ENSG00000104299",8,28625719,"rs138182549","C","A","gnomAD_Genomes","NA","PASS","p.Glu641Ter","p.Glu641Ter","c.1921G>T","stop_gained","lc_lof",1,31404,3.18430773149917e-05,0,0,0,8714,0,0,0,848,0,0,0,290,0,0,0,1560,0,0,0,3476,0,0,1,15428,0,0,0,1088,0,0,0,0,0,0]
["INTS9","ENSG00000104299",8,28625674,"rs745982905","G","A","gnomAD_Exomes","PASS","NA","p.Gln656Ter","p.Gln656Ter","c.1966C>T","stop_gained","lc_lof",1,251368,3.97823111931511e-06,0,0,0,16256,0,0,0,34586,0,0,0,10080,0,0,0,18392,0,0,0,21558,0,0,1,113746,0,0,0,6134,0,0,0,30616,0,0]
["IPO11","ENSG00000086200",5,61808225,"rs753417155","CTA","C","gnomAD_Exomes","PASS","NA","p.Ile28SerfsTer6","p.Ile28SerfsTer6","c.83_84delTA","frameshift_variant","segdup,lc_lof,lof_flag",1,234634,4.261956920139449e-06,0,0,0,14526,0,0,1,32892,0,0,0,9590,0,0,0,17966,0,0,0,20884,0,0,0,105260,0,0,0,5740,0,0,0,27776,0,0]
["IPO11","ENSG00000086200",5,61714847,"rs1306014156","C","T","gnomAD_Exomes","PASS","NA","p.Gln3Ter","p.Gln3Ter","c.7C>T","stop_gained","lof_flag",1,150876,6.627959383864899e-06,0,0,0,7912,0,0,0,24626,0,0,0,8468,0,0,0,10892,0,0,0,14944,0,0,1,56984,0,0,0,4302,0,0,0,22748,0,0]
["IPO11","ENSG00000086200",5,61781239,"rs765754459","A","G","gnomAD_Exomes","PASS","NA","c.1295-7A>G",null,"c.1295-7A>G","splice_region_variant","lc_lof,os_lof",2,250644,7.97944494980929e-06,0,0,0,16044,0,0,0,34442,0,0,0,10064,0,0,0,18372,0,0,0,21644,0,0,0,113486,0,0,0,6106,0,0,2,30486,0,0]
["IPO11","ENSG00000086200",5,61800684,"rs1223394753","C","T","gnomAD_Exomes","PASS","NA","c.1745-1C>T",null,"c.1745-1C>T","splice_acceptor_variant","lc_lof,lof_flag",2,230712,8.668816533166889e-06,0,0,0,14872,0,0,0,29452,0,0,0,9216,0,0,0,17120,0,0,0,21242,0,0,2,107308,0,0,0,5544,0,0,0,25958,0,0]
["IQCN","ENSG00000130518",19,18368091,"rs367982069","G","A","gnomAD_Exomes","PASS","NA","p.Arg1335Ter","p.Arg1335Ter","c.4003C>T","stop_gained","lc_lof",1,250668,3.98934048223148e-06,0,0,0,16212,0,0,0,34578,0,0,0,10040,0,0,0,18382,0,0,0,21478,0,0,1,113254,0,0,0,6114,0,0,0,30610,0,0]
["IQCN","ENSG00000130518",19,18368130,"rs778651015","G","A","gnomAD_Exomes","PASS","NA","p.Gln1322Ter","p.Gln1322Ter","c.3964C>T","stop_gained","lc_lof",1,250374,3.99402493869172e-06,0,0,0,16214,0,0,1,34550,0,0,0,10024,0,0,0,18384,0,0,0,21442,0,0,0,113050,0,0,0,6108,0,0,0,30602,0,0]
["IQCN","ENSG00000130518",19,18368545,"rs368931841","C","T","gnomAD_Exomes","PASS","NA","p.Trp1183Ter","p.Trp1183Ter","c.3549G>A","stop_gained","lc_lof",1,244716,4.0863695058762e-06,0,0,0,15188,0,0,0,34392,0,0,0,9774,0,0,0,18124,0,0,0,21438,0,0,0,109462,0,0,1,5994,0,0,0,30344,0,0]
["IQCN","ENSG00000130518",19,18368775,"rs1184273819","G","A","gnomAD_Exomes","PASS","NA","p.Gln1107Ter","p.Gln1107Ter","c.3319C>T","stop_gained","lc_lof",1,248810,4.0191310638639904e-06,0,0,1,15930,0,0,0,34552,0,0,0,9988,0,0,0,18294,0,0,0,21614,0,0,0,111752,0,0,0,6092,0,0,0,30588,0,0]
["IQCN","ENSG00000130518",19,18368675,"rs781149862","GC","G","gnomAD_Exomes","PASS","NA","p.Ala1140ProfsTer96","p.Ala1140ProfsTer96","c.3418delG","frameshift_variant","lc_lof",2,246040,8.12875955129247e-06,0,0,0,15588,0,0,0,34476,0,0,0,9914,0,0,0,18178,0,0,0,20782,0,0,1,110516,0,0,0,6034,0,0,1,30552,0,0]
["IQCN","ENSG00000130518",19,18368045,"rs1177874298","AAG","A","gnomAD_Exomes","PASS","NA","p.Leu1350GlyfsTer38","p.Leu1350GlyfsTer38","c.4047_4048delCT","frameshift_variant","lc_lof",1,250928,3.985206911942869e-06,0,0,0,16218,0,0,0,34590,0,0,0,10052,0,0,0,18386,0,0,0,21550,0,0,0,113388,0,0,1,6128,0,0,0,30616,0,0]
["IQCN","ENSG00000130518",19,18368615,"rs1279958687","CA","C","gnomAD_Genomes","NA","PASS","p.Cys1160AlafsTer76","p.Cys1160AlafsTer76","c.3478delT","frameshift_variant","lc_lof",1,31358,3.18897888895976e-05,0,0,1,8694,0,0,0,848,0,0,0,290,0,0,0,1560,0,0,0,3474,0,0,0,15406,0,0,0,1086,0,0,0,0,0,0]
["ITPRIPL1","ENSG00000198885",2,96992352,"rs1450081454","ACTGACTC","A","gnomAD_Exomes","PASS","NA","p.Asp4ThrfsTer14","p.Asp4ThrfsTer14","c.10_16delGACTCCT","frameshift_variant","lof_flag",1,250752,3.988004083716179e-06,0,0,0,16256,0,0,0,34550,0,0,0,10044,0,0,0,18394,0,0,0,21628,0,0,1,113166,0,0,0,6118,0,0,0,30596,0,0]
["JAML","ENSG00000160593",11,118083621,"rs764862666","T","TC","gnomAD_Exomes","PASS","NA","p.Asp5ArgfsTer8","p.Asp5ArgfsTer8","c.11dupG","frameshift_variant","lof_flag",1,251258,3.97997277698621e-06,0,0,0,16256,0,0,0,34590,0,0,0,10076,0,0,0,18394,0,0,0,21648,0,0,0,113550,0,0,0,6128,0,0,1,30616,0,0]
["JAML","ENSG00000160593",11,118068713,"rs1366806850","C","T","gnomAD_Exomes","PASS","NA","c.1005G>A","c.1005G>A(p.=)","c.1005G>A","splice_region_variant","lc_lof,os_lof",1,251470,3.97661748916372e-06,0,0,0,16252,0,0,0,34590,0,0,0,10080,0,0,0,18394,0,0,0,21646,0,0,1,113760,0,0,0,6136,0,0,0,30612,0,0]
["JAML","ENSG00000160593",11,118065079,"rs768547342","C","CT","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Ser383ValfsTer39","p.Ser383ValfsTer39","c.1145dupA","frameshift_variant","lc_lof",8,282840,2.82845424975251e-05,0,0,0,24972,0,0,0,35440,0,0,0,10370,0,0,0,19952,0,0,0,25122,0,0,8,129148,0,0,0,7222,0,0,0,30614,0,0]
["JAML","ENSG00000160593",11,118065078,"rs747105532","AC","A","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Lys382AsnfsTer79","p.Lys382AsnfsTer79","c.1146delG","frameshift_variant","lc_lof",4,282810,1.4143771436653601e-05,0,0,4,24958,0,0,0,35440,0,0,0,10370,0,0,0,19950,0,0,0,25120,0,0,0,129134,0,0,0,7224,0,0,0,30614,0,0]
["JAML","ENSG00000160593",11,118065077,"rs1334495462","GAC","G","gnomAD_Exomes","PASS","NA","p.Lys382AsnfsTer39","p.Lys382AsnfsTer39","c.1146_1147delGT","frameshift_variant","lc_lof",1,251452,3.97690215229944e-06,0,0,0,16256,0,0,0,34592,0,0,0,10080,0,0,0,18394,0,0,0,21648,0,0,0,113732,0,0,0,6136,0,0,1,30614,0,0]
["KBTBD4","ENSG00000123444",11,47600181,"rs1011042397","G","GC","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Gly11ArgfsTer11","p.Gly11ArgfsTer11","c.29dupG","frameshift_variant","lof_flag",3,151488,1.98035487959442e-05,0,0,3,14742,0,0,0,22712,0,0,0,7804,0,0,0,11188,0,0,0,8610,0,0,0,60212,0,0,0,4830,0,0,0,21390,0,0]
["KBTBD4","ENSG00000123444",11,47600463,"rs371831397","C","G","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","c.-30+1G>C",null,"c.-30+1G>C","splice_donor_variant","lc_lof",8,187438,4.26807797778465e-05,0,0,0,16680,0,0,0,25570,0,0,0,8786,0,0,0,12704,0,0,0,19638,0,0,8,75812,0,0,0,5466,0,0,0,22782,0,0]
["KBTBD4","ENSG00000123444",11,47597137,"rs760476946","TGC","T","gnomAD_Exomes","PASS","NA","p.Gln284AsnfsTer?","p.Gln284AsnfsTer?","c.849_850delGC","frameshift_variant","lc_lof",2,250628,7.97995435466109e-06,0,0,0,16226,0,0,0,34288,0,0,0,10062,0,0,2,18332,0,0,0,21640,0,0,0,113500,0,0,0,6120,0,0,0,30460,0,0]
["KCTD11","ENSG00000213859",17,7256800,"rs1163846718","G","A","gnomAD_Exomes","PASS","NA","p.Trp180Ter","p.Trp180Ter","c.539G>A","stop_gained","lof_flag",1,244490,4.09014683627142e-06,0,0,0,15154,0,0,0,34362,0,0,0,9812,0,0,0,18304,0,0,0,20266,0,0,0,110188,0,0,0,5996,0,0,1,30408,0,0]
["KCTD11","ENSG00000213859",17,7256343,"rs1355335929","CG","C","gnomAD_Exomes","PASS","NA","p.Asp29MetfsTer12","p.Asp29MetfsTer12","c.85delG","frameshift_variant","lof_flag",1,250488,3.992207211523109e-06,0,0,0,16112,0,0,0,34566,0,0,0,10050,0,0,0,18328,0,0,0,21632,0,0,1,113080,0,0,0,6116,0,0,0,30604,0,0]
["KCTD11","ENSG00000213859",17,7256781,"rs1178868292","CTG","C","gnomAD_Genomes","NA","PASS","p.Leu174ArgfsTer66","p.Leu174ArgfsTer66","c.521_522delTG","frameshift_variant","lof_flag",1,31378,3.1869462680859205e-05,0,0,0,8708,0,0,0,848,0,0,0,290,0,0,0,1560,0,0,0,3466,0,0,1,15418,0,0,0,1088,0,0,0,0,0,0]
["KCTD14","ENSG00000151364",11,77734266,"rs767700567","TGG","T","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Pro10SerfsTer32","p.Pro10SerfsTer32","c.28_29delCC","frameshift_variant","lof_flag",3,267990,1.1194447554013201e-05,0,0,3,23066,0,0,0,35054,0,0,0,10060,0,0,0,19214,0,0,0,21338,0,0,0,121872,0,0,0,6876,0,0,0,30510,0,0]
["KCTD14","ENSG00000151364",11,77727646,"rs745391984","C","T","gnomAD_Exomes","PASS","NA","p.Trp254Ter","p.Trp254Ter","c.761G>A","stop_gained","lc_lof",2,250814,7.97403653703541e-06,0,0,0,16250,0,0,0,34526,0,0,0,10014,0,0,0,18390,0,0,0,21608,0,0,1,113386,0,0,1,6118,0,0,0,30522,0,0]
["KCTD14","ENSG00000151364",11,77727796,"rs1403574091","C","T","gnomAD_Exomes","PASS","NA","p.Trp204Ter","p.Trp204Ter","c.611G>A","stop_gained","lc_lof",1,250938,3.98504809953056e-06,0,0,0,16246,0,0,0,34590,0,0,0,10064,0,0,0,18390,0,0,0,21642,0,0,1,113256,0,0,0,6134,0,0,0,30616,0,0]
["KCTD14","ENSG00000151364",11,77727721,"rs747956602","A","AAT","gnomAD_Exomes","PASS","NA","p.Phe229TyrfsTer7","p.Phe229TyrfsTer7","c.684_685dupAT","frameshift_variant","lc_lof",1,251282,3.9795926488964594e-06,0,0,0,16256,0,0,0,34586,0,0,0,10078,0,0,0,18394,0,0,0,21648,0,0,1,113572,0,0,0,6134,0,0,0,30614,0,0]
["KDM8","ENSG00000155666",16,27226329,"rs774179509","G","A","gnomAD_Exomes","PASS","NA","c.912G>A","c.912G>A(p.=)","c.912G>A","splice_region_variant","lc_lof,os_lof",1,251444,3.97702868233086e-06,0,0,0,16256,0,0,0,34588,0,0,0,10078,0,0,1,18394,0,0,0,21632,0,0,0,113744,0,0,0,6136,0,0,0,30616,0,0]
["KDM8","ENSG00000155666",16,27231992,"rs147629899","T","TA","gnomAD_Exomes","PASS","NA","p.Tyr436Ter","p.Tyr436Ter","c.1307dupA","stop_gained","lc_lof",1,251494,3.97623800170183e-06,0,0,0,16256,0,0,0,34592,0,0,0,10080,0,0,0,18394,0,0,0,21648,0,0,0,113768,0,0,0,6140,0,0,1,30616,0,0]
["KDM8","ENSG00000155666",16,27231966,"rs1459475352","GA","G","gnomAD_Exomes","PASS","NA","p.Glu428ArgfsTer7","p.Glu428ArgfsTer7","c.1281delA","frameshift_variant","lc_lof",1,251494,3.97623800170183e-06,0,0,1,16256,0,0,0,34592,0,0,0,10080,0,0,0,18394,0,0,0,21648,0,0,0,113768,0,0,0,6140,0,0,0,30616,0,0]
["KLHL28","ENSG00000179454",14,45481239,"rs756199856","A","T","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Lys1067Ter","p.Lys1067Ter","c.3199A>T","stop_gained","lof_flag",10,280620,3.56353788040767e-05,0,0,0,24812,0,0,10,34932,0,0,0,10298,0,0,0,19798,0,0,0,25068,0,0,0,128396,0,0,0,7130,0,0,0,30186,0,0]
["KLHL28","ENSG00000179454",14,45398396,"rs1450831500","T","C","gnomAD_Exomes","PASS","NA","c.1553-2A>G",null,"c.1553-2A>G","splice_acceptor_variant","lof_flag",1,235752,4.24174556313414e-06,0,0,0,15784,0,0,1,31190,0,0,0,9184,0,0,0,17306,0,0,0,21312,0,0,0,106854,0,0,0,5636,0,0,0,28486,0,0]
["KLHL28","ENSG00000179454",14,45478351,"rs1465790306","A","G","gnomAD_Exomes","PASS","NA","c.3137+3A>G",null,"c.3137+3A>G","splice_region_variant","lc_lof,os_lof",1,244866,4.0838662778826e-06,0,0,0,16052,0,0,0,32944,0,0,1,9654,0,0,0,18110,0,0,0,21450,0,0,0,111390,0,0,0,5900,0,0,0,29366,0,0]
["KLHL28","ENSG00000179454",14,45422913,"rs959270250","C","A","gnomAD_Genomes","NA","PASS","c.-87-1G>T",null,"c.-87-1G>T","splice_acceptor_variant","lc_lof",3,31398,9.55474871010892e-05,0,0,0,8714,0,0,3,848,0,0,0,290,0,0,0,1560,0,0,0,3470,0,0,0,15428,0,0,0,1088,0,0,0,0,0,0]
["KLK11","ENSG00000167757",19,51528895,"rs751651055","A","AG","gnomAD_Exomes","PASS","NA","p.Leu30ProfsTer87","p.Leu30ProfsTer87","c.88dupC","frameshift_variant","lof_flag",2,210468,9.50263222912747e-06,0,0,2,12752,0,0,0,29236,0,0,0,9096,0,0,0,15090,0,0,0,18974,0,0,0,94922,0,0,0,5088,0,0,0,25310,0,0]
["KLK11","ENSG00000167757",19,51529011,"rs896811107","C","T","gnomAD_Genomes","NA","PASS","c.-36+1G>A",null,"c.-36+1G>A","splice_donor_variant","lc_lof",3,31384,9.55901096099923e-05,0,0,3,8714,0,0,0,846,0,0,0,290,0,0,0,1560,0,0,0,3472,0,0,0,15416,0,0,0,1086,0,0,0,0,0,0]
["KMT5A","ENSG00000183955",12,123874629,"rs990569189","CCA","C","gnomAD_Exomes","PASS","NA","p.Pro13ArgfsTer19","p.Pro13ArgfsTer19","c.38_39delCA","frameshift_variant","lof_flag",1,144744,6.90874924003758e-06,0,0,0,6728,0,0,1,24560,0,0,0,8368,0,0,0,10754,0,0,0,13500,0,0,0,54066,0,0,0,4238,0,0,0,22530,0,0]
["LDB1","ENSG00000198728",10,103870826,"rs1212299380","C","T","gnomAD_Exomes","PASS","NA","c.249G>A","c.249G>A(p.=)","c.249G>A","splice_region_variant","lc_lof,os_lof",1,251488,3.97633286677694e-06,0,0,0,16256,0,0,0,34590,0,0,0,10078,0,0,0,18394,0,0,0,21646,0,0,0,113770,0,0,0,6140,0,0,1,30614,0,0]
["LHX8","ENSG00000162624","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA"]
["LNPEP","ENSG00000113441",5,96358188,"rs1388600074","G","T","gnomAD_Exomes","PASS","NA","p.Ser854Ile","p.Ser854Ile","c.2561G>T","missense_variant","lc_lof,os_lof",1,250896,3.9857151967349005e-06,0,0,0,16242,0,0,1,34530,0,0,0,10054,0,0,0,18392,0,0,0,21598,0,0,0,113390,0,0,0,6116,0,0,0,30574,0,0]
["LNPEP","ENSG00000113441",5,96364231,"rs756482414","GC","G","gnomAD_Exomes","PASS","NA","p.Leu1025CysfsTer44","p.Leu1025CysfsTer44","c.3073delC","frameshift_variant","lc_lof",1,251248,3.98013118512386e-06,0,0,1,16256,0,0,0,34564,0,0,0,10072,0,0,0,18392,0,0,0,21638,0,0,0,113584,0,0,0,6130,0,0,0,30612,0,0]
["LSM4","ENSG00000130520",19,18420175,"rs564275925","C","T","gnomAD_Genomes","NA","PASS","p.Trp214Ter","p.Trp214Ter","c.641G>A","stop_gained","lc_lof",21,31390,0.0006690028671550001,0,0,21,8706,0,0,0,848,0,0,0,290,0,0,0,1560,0,0,0,3474,0,0,0,15424,0,0,0,1088,0,0,0,0,0,0]
["LSM4","ENSG00000130520",19,18420344,"rs1016173779","G","A","gnomAD_Exomes","PASS","NA","p.Arg158Ter","p.Arg158Ter","c.472C>T","stop_gained","lc_lof",1,54266,1.8427744812589803e-05,0,0,0,5280,0,0,1,7340,0,0,0,1266,0,0,0,5902,0,0,0,914,0,0,0,26104,0,0,0,1628,0,0,0,5832,0,0]
["LSM5","ENSG00000106355",7,32528232,"rs1462955060","C","T","gnomAD_Exomes","PASS","NA","c.170+5G>A",null,"c.170+5G>A","splice_region_variant","lc_lof,os_lof",2,250028,7.99910410034076e-06,0,0,0,16150,0,0,1,34212,0,0,0,10058,0,0,1,18280,0,0,0,21618,0,0,0,113262,0,0,0,6080,0,0,0,30368,0,0]
["LSR","ENSG00000105699",19,35739852,"rs146546592","G","A","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Trp24Ter","p.Trp24Ter","c.71G>A","stop_gained","lof_flag",216,280268,0.000770690910129,0,0,12,24776,0,0,18,35358,0,0,0,10316,0,0,0,19924,0,0,7,25086,0,0,176,127030,0,0,3,7174,0,0,0,30604,0,0]
["LSR","ENSG00000105699",19,35739792,"rs1345899280","AC","A","gnomAD_Exomes","PASS","NA","p.Asp4GlufsTer5","p.Asp4GlufsTer5","c.12delC","frameshift_variant","lof_flag",1,249982,4.00028802073749e-06,0,0,0,16152,0,0,0,34396,0,0,0,10020,0,0,0,18296,0,0,0,21642,0,0,1,112826,0,0,0,6080,0,0,0,30570,0,0]
["LSR","ENSG00000105699",19,35739891,"rs760804619","G","GGGACGCGCGGGCC","gnomAD_Exomes","PASS","NA","p.Arg42GlyfsTer43","p.Arg42GlyfsTer43","c.111_123dupGGACGCGCGGGCC","frameshift_variant","lof_flag",1,242976,4.1156328197023595e-06,0,0,0,15330,0,0,0,34170,0,0,0,9882,0,0,0,18090,0,0,0,21250,0,0,1,107824,0,0,0,5940,0,0,0,30490,0,0]
["LSR","ENSG00000105699",19,35749972,"rs764227347","G","C","gnomAD_Exomes","PASS","NA","c.718+5G>C",null,"c.718+5G>C","splice_region_variant","lc_lof,os_lof",1,249678,4.005158644333899e-06,0,0,0,16248,0,0,0,34426,0,0,0,9904,0,0,0,18382,0,0,0,21390,0,0,1,112788,0,0,0,6056,0,0,0,30484,0,0]
["LSR","ENSG00000105699",19,35758617,"rs772677428","C","T","gnomAD_Exomes","PASS","NA","p.Arg632Ter","p.Arg632Ter","c.1894C>T","stop_gained","lc_lof",2,241208,8.29159895194189e-06,0,0,0,15752,0,0,0,31792,0,0,0,9458,0,0,0,17454,0,0,0,21246,0,0,1,109662,0,0,0,5792,0,0,1,30052,0,0]
["LSR","ENSG00000105699",19,35750218,"rs1243192041","T","TG","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Pro192AlafsTer8","p.Pro192AlafsTer8","c.573dupG","frameshift_variant","lc_lof",3,43200,6.94444444444444e-05,0,0,3,9436,0,0,0,4008,0,0,0,450,0,0,0,2982,0,0,0,3598,0,0,0,18334,0,0,0,1518,0,0,0,2874,0,0]
["LSR","ENSG00000105699",19,35758609,"rs1310067299","AG","A","gnomAD_Genomes","NA","PASS","p.Ala630ArgfsTer13","p.Ala630ArgfsTer13","c.1888delG","frameshift_variant","lc_lof",1,31084,3.2170891777120104e-05,0,0,0,8632,0,0,0,848,0,0,0,290,0,0,0,1558,0,0,0,3446,0,0,1,15234,0,0,0,1076,0,0,0,0,0,0]
["LTF","ENSG00000012223",3,46506334,"rs759018162","CAGGACGAGGA","C","gnomAD_Exomes","PASS","NA","p.Phe5CysfsTer38","p.Phe5CysfsTer38","c.14_23delTCCTCGTCCT","frameshift_variant","lof_flag",1,250820,3.98692289291125e-06,0,0,0,16230,0,0,0,34412,0,0,0,10068,0,0,0,18302,0,0,0,21606,0,0,0,113502,0,0,0,6130,0,0,1,30570,0,0]
["LTF","ENSG00000012223",3,46495790,"rs770839547","C","G","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","c.703+5G>C",null,"c.703+5G>C","splice_region_variant","lc_lof,os_lof",3,282880,1.06052036199095e-05,0,0,0,24966,0,0,0,35438,0,0,0,10370,0,0,0,19954,0,0,0,25118,0,0,3,129192,0,0,0,7226,0,0,0,30616,0,0]
["LTF","ENSG00000012223",3,46480974,"rs780461964","G","C","gnomAD_Exomes","PASS","NA","c.1724-3C>G",null,"c.1724-3C>G","splice_region_variant","lc_lof,os_lof",2,239254,8.35931687662484e-06,0,0,0,16080,0,0,0,32620,0,0,0,8920,0,0,0,18028,0,0,0,21072,0,0,1,108022,0,0,1,5782,0,0,0,28730,0,0]
["LTF","ENSG00000012223",3,46482902,"rs781539038","C","A","gnomAD_Exomes","PASS","NA","c.1723+5G>T",null,"c.1723+5G>T","splice_region_variant","lc_lof,os_lof",1,249262,4.01184296041916e-06,0,0,0,16210,0,0,0,33878,0,0,0,10058,0,0,0,18268,0,0,0,21614,0,0,1,113268,0,0,0,6096,0,0,0,29870,0,0]
["LTF","ENSG00000012223",3,46496780,"rs755899923","C","T","gnomAD_Exomes","PASS","NA","c.647+5G>A",null,"c.647+5G>A","splice_region_variant","lc_lof,os_lof",2,251414,7.95500648333028e-06,0,0,0,16254,0,0,0,34576,0,0,0,10076,0,0,0,18394,0,0,0,21642,0,0,2,113722,0,0,0,6134,0,0,0,30616,0,0]
["LTF","ENSG00000012223",3,46506313,"rs765044164","ACCGAGGGCC","A","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","c.36_43+1delGGCCCTCGG",null,"c.36_43+1delGGCCCTCGG","splice_donor_variant","lc_lof",15,282120,5.316886431305831e-05,0,0,14,24902,0,0,1,35332,0,0,0,10352,0,0,0,19892,0,0,0,25034,0,0,0,128806,0,0,0,7208,0,0,0,30594,0,0]
["MAFF","ENSG00000185022",22,38610874,"rs1239376242","T","TCCTGCTCCTAGTGCCCG","gnomAD_Exomes","PASS","NA","c.487_*8dupTGCTCCTAGTGCCCGCC",null,"c.487_*8dupTGCTCCTAGTGCCCGCC","stop_gained","lc_lof",1,109356,9.14444566370387e-06,0,0,0,3042,0,0,0,20048,0,0,0,6988,0,0,0,6384,0,0,0,10998,0,0,1,39634,0,0,0,3192,0,0,0,19070,0,0]
["MAGOHB","ENSG00000111196","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA"]
["MAP2K3","ENSG00000034152",17,21216960,"rs1307042253","G","A","gnomAD_Genomes","NA","PASS","p.Trp99Ter","p.Trp99Ter","c.297G>A","stop_gained","lc_lof",1,31402,3.18451054072989e-05,0,0,0,8718,0,0,0,848,0,0,0,290,0,0,0,1560,0,0,0,3476,0,0,1,15422,0,0,0,1088,0,0,0,0,0,0]
["MAP2K3","ENSG00000034152",17,21217024,"rs1354468538","CCCTCCTT","C","gnomAD_Exomes","PASS","NA","p.Ser122CysfsTer35","p.Ser122CysfsTer35","c.365_371delCCTTCCT","frameshift_variant","lc_lof",1,79684,1.2549570804678502e-05,0,0,0,6080,0,0,1,16562,0,0,0,2898,0,0,0,9382,0,0,0,1770,0,0,0,29078,0,0,0,2558,0,0,0,11356,0,0]
["MATK","ENSG00000007264",19,3785124,"rs368540633","G","A","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Arg4Ter","p.Arg4Ter","c.10C>T","stop_gained","lof_flag",4,282366,1.41660114886353e-05,0,0,3,24882,0,0,0,35398,0,0,0,10362,0,0,0,19918,0,0,0,25088,0,0,1,128886,0,0,0,7220,0,0,0,30612,0,0]
["MATK","ENSG00000007264",19,3782930,"rs1292320745","G","A","gnomAD_Exomes","PASS","NA","p.Gln95Ter","p.Gln95Ter","c.283C>T","stop_gained","lof_flag",1,48256,2.0722811671087505e-05,0,0,0,4848,0,0,0,9148,0,0,0,1154,0,0,0,6376,0,0,0,814,0,0,1,18836,0,0,0,1666,0,0,0,5414,0,0]
["MATK","ENSG00000007264",19,3785063,"rs758957623","C","CG","gnomAD_Exomes","PASS","NA","p.Arg24ProfsTer159","p.Arg24ProfsTer159","c.70dupC","frameshift_variant","lof_flag",1,251052,3.98323853225627e-06,0,0,0,16226,0,0,0,34554,0,0,0,10068,0,0,0,18374,0,0,0,21638,0,0,1,113442,0,0,0,6136,0,0,0,30614,0,0]
["MATK","ENSG00000007264",19,3779371,"rs756024860","C","G","gnomAD_Exomes","PASS","NA","c.1004+5G>C",null,"c.1004+5G>C","splice_region_variant","lc_lof,os_lof",1,250452,3.992781051858239e-06,0,0,0,16162,0,0,0,34560,0,0,0,10030,0,0,0,18372,0,0,0,21564,0,0,1,113044,0,0,0,6108,0,0,0,30612,0,0]
["MATK","ENSG00000007264",19,3785278,"rs749088246","CT","C","gnomAD_Exomes","PASS","NA","p.Gly28GlufsTer?","p.Gly28GlufsTer?","c.81delA","frameshift_variant","lc_lof,lof_flag",1,121364,8.239675686364978e-06,0,0,0,7248,0,0,0,19720,0,0,1,5444,0,0,0,10416,0,0,0,5058,0,0,0,50864,0,0,0,3492,0,0,0,19122,0,0]
["MATK","ENSG00000007264",19,3785610,"rs1166095539","C","T","gnomAD_Genomes","NA","PASS","c.-152+1G>A",null,"c.-152+1G>A","splice_donor_variant","lc_lof",2,31376,6.37429882712902e-05,0,0,0,8702,0,0,0,848,0,0,0,290,0,0,0,1560,0,0,0,3472,0,0,2,15418,0,0,0,1086,0,0,0,0,0,0]
["MEA1","ENSG00000124733",6,42981130,"rs774742341","G","C","gnomAD_Exomes","PASS","NA","c.29-3C>G",null,"c.29-3C>G","splice_region_variant","lc_lof,os_lof",1,249084,4.014709897062839e-06,0,0,0,16238,0,0,0,34498,0,0,0,9968,0,0,0,18382,0,0,0,20586,0,0,1,112728,0,0,0,6100,0,0,0,30584,0,0]
["MED4","ENSG00000136146",13,48667697,"rs140099695","CAT","C","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.His15ArgfsTer48","p.His15ArgfsTer48","c.44_45delAT","frameshift_variant","lof_flag",7273,179428,0.040534364759124,162,0,536,15422,7,0,686,25024,12,0,764,8624,28,0,13,12252,0,0,861,20238,17,0,3590,70120,85,0,263,5360,6,0,560,22388,7,0]
["MED4","ENSG00000136146",13,48669195,"rs1325931257","C","T","gnomAD_Genomes","NA","PASS","c.-14+1G>A",null,"c.-14+1G>A","splice_donor_variant","lc_lof",6,31402,0.00019107063244400003,0,0,0,8714,0,0,0,848,0,0,0,290,0,0,0,1560,0,0,0,3474,0,0,5,15430,0,0,1,1086,0,0,0,0,0,0]
["MIEF2","ENSG00000177427",17,18164451,"rs199681136","T","TG","gnomAD_Genomes","NA","PASS","p.Leu3AlafsTer22","p.Leu3AlafsTer22","c.6dupG","frameshift_variant","lof_flag",1,31380,3.1867431485022305e-05,0,0,0,8706,0,0,0,848,0,0,0,290,0,0,0,1556,0,0,0,3470,0,0,1,15422,0,0,0,1088,0,0,0,0,0,0]
["MIEF2","ENSG00000177427",17,18166727,"rs750159265","A","T","gnomAD_Exomes","PASS","NA","p.Lys159Ter","p.Lys159Ter","c.475A>T","stop_gained","lc_lof",1,155042,6.44986519781737e-06,0,0,1,7670,0,0,0,25148,0,0,0,8458,0,0,0,11562,0,0,0,14646,0,0,0,59426,0,0,0,4434,0,0,0,23698,0,0]
["MIEF2","ENSG00000177427",17,18166581,"rs371410329","CCT","C","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Ser111PhefsTer16","p.Ser111PhefsTer16","c.332_333delCT","frameshift_variant","lc_lof",2,281704,7.0996506971856994e-06,0,0,0,24930,0,0,0,35434,0,0,0,10344,0,0,0,19946,0,0,1,25122,0,0,0,128094,0,0,1,7218,0,0,0,30616,0,0]
["MPG","ENSG00000103152",16,129316,"rs924955326","A","T","gnomAD_Exomes","PASS","NA","p.Lys9Ter","p.Lys9Ter","c.25A>T","stop_gained","lof_flag",1,241246,4.14514644802401e-06,0,0,0,15386,0,0,0,33604,0,0,0,9828,0,0,0,17740,0,0,0,21090,0,0,0,107614,0,0,1,5970,0,0,0,30014,0,0]
["MPG","ENSG00000103152",16,135608,"rs202204500","G","A","gnomAD_Exomes","PASS","NA","p.Trp243Ter","p.Trp243Ter","c.729G>A","stop_gained","lc_lof",2,245726,8.1391468546267e-06,0,0,0,15832,0,0,2,34004,0,0,0,9860,0,0,0,18200,0,0,0,21192,0,0,0,110302,0,0,0,5996,0,0,0,30340,0,0]
["MPG","ENSG00000103152",16,135657,"rs1168126591","G","GC","gnomAD_Exomes","PASS","NA","p.Arg261ProfsTer33","p.Arg261ProfsTer33","c.781dupC","frameshift_variant","lc_lof",1,228088,4.38427273683841e-06,0,0,0,14710,0,0,1,31512,0,0,0,8572,0,0,0,17552,0,0,0,19944,0,0,0,102300,0,0,0,5416,0,0,0,28082,0,0]
["MPP3","ENSG00000161647",17,41909328,"rs758000722","G","GA","gnomAD_Exomes","PASS","NA","p.Pro8SerfsTer15","p.Pro8SerfsTer15","c.21dupT","frameshift_variant","lof_flag",7,234508,2.9849727941051003e-05,0,0,0,13890,0,0,6,32786,0,0,0,9668,0,0,0,17048,0,0,0,20928,0,0,0,105812,0,0,1,5818,0,0,0,28558,0,0]
["MPP3","ENSG00000161647",17,41888171,"rs1218548455","T","A","gnomAD_Exomes","PASS","NA","c.1458+4A>T",null,"c.1458+4A>T","splice_region_variant","lc_lof,os_lof",1,233920,4.2749658002736e-06,0,0,0,15248,0,0,0,30148,0,0,1,9056,0,0,0,17174,0,0,0,21190,0,0,0,108514,0,0,0,5646,0,0,0,26944,0,0]
["MPP3","ENSG00000161647",17,41901299,"rs781111125","C","T","gnomAD_Exomes","PASS","NA","c.684G>A","c.684G>A(p.=)","c.684G>A","splice_region_variant","lc_lof,os_lof",2,245272,8.15421246616002e-06,0,0,1,15210,0,0,0,33232,0,0,0,9992,0,0,0,17520,0,0,0,21508,0,0,1,112164,0,0,0,5926,0,0,0,29720,0,0]
["MPP3","ENSG00000161647",17,41910188,"rs930914386","C","T","gnomAD_Genomes","NA","PASS","c.-96-1G>A",null,"c.-96-1G>A","splice_acceptor_variant","lc_lof",2,31350,6.37958532695375e-05,0,0,0,8690,0,0,1,846,0,0,0,290,0,0,0,1558,0,0,0,3470,0,0,1,15410,0,0,0,1086,0,0,0,0,0,0]
["MRPL20","ENSG00000242485",1,1341054,"rs775766093","C","T","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Trp137Ter","p.Trp137Ter","c.411G>A","stop_gained","lc_lof",2,268846,7.439203112562579e-06,0,0,0,23608,0,0,0,34158,0,0,0,10116,0,0,0,19294,0,0,0,23792,0,0,2,120840,0,0,0,6944,0,0,0,30094,0,0]
["MRPL20","ENSG00000242485",1,1341188,"rs1475885447","C","T","gnomAD_Exomes","PASS","NA","c.276+1G>A",null,"c.276+1G>A","splice_donor_variant","lc_lof",1,251486,3.9763644894745595e-06,0,0,0,16256,0,0,0,34592,0,0,0,10080,0,0,0,18394,0,0,0,21648,0,0,0,113760,0,0,0,6140,0,0,1,30616,0,0]
["MRPL20","ENSG00000242485",1,1341176,"rs749742869","TACTC","T","gnomAD_Exomes","PASS","NA","p.Ser96CysfsTer5","p.Ser96CysfsTer5","c.285_288delGAGT","frameshift_variant","lc_lof",2,251488,7.95266573355389e-06,0,0,0,16254,0,0,0,34592,0,0,0,10080,0,0,0,18394,0,0,0,21648,0,0,2,113764,0,0,0,6140,0,0,0,30616,0,0]
["MRPL20","ENSG00000242485",1,1337534,"rs1437939447","CT","C","gnomAD_Exomes","PASS","NA","p.Gly127AspfsTer31","p.Gly127AspfsTer31","c.378delA","frameshift_variant","lc_lof",1,251480,3.976459360585329e-06,0,0,0,16256,0,0,0,34582,0,0,0,10080,0,0,0,18394,0,0,0,21648,0,0,1,113764,0,0,0,6140,0,0,0,30616,0,0]
["MS4A6A","ENSG00000110077",11,59949154,"rs768274871","G","C","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Ser44Ter","p.Ser44Ter","c.131C>G","stop_gained","segdup,lof_flag",2,282856,7.07073563933592e-06,0,0,2,24970,0,0,0,35440,0,0,0,10366,0,0,0,19952,0,0,0,25124,0,0,0,129162,0,0,0,7228,0,0,0,30614,0,0]
["MS4A6A","ENSG00000110077",11,59942932,"rs756232802","G","C","gnomAD_Exomes","PASS","NA","p.Tyr192Ter","p.Tyr192Ter","c.576C>G","stop_gained","segdup,lof_flag",1,251232,3.98038466437396e-06,0,0,0,16256,0,0,1,34586,0,0,0,10076,0,0,0,18392,0,0,0,21642,0,0,0,113544,0,0,0,6126,0,0,0,30610,0,0]
["MS4A6A","ENSG00000110077",11,59949134,"rs1460571884","G","A","gnomAD_Exomes","PASS","NA","p.Gln51Ter","p.Gln51Ter","c.151C>T","stop_gained","segdup,lof_flag",1,251430,3.977250129260629e-06,0,0,0,16254,0,0,0,34578,0,0,0,10078,0,0,0,18392,0,0,0,21648,0,0,1,113728,0,0,0,6138,0,0,0,30614,0,0]
["MS4A6A","ENSG00000110077",11,59942945,"rs1342857717","CT","C","gnomAD_Exomes","PASS","NA","p.Ser188ValfsTer29","p.Ser188ValfsTer29","c.562delA","frameshift_variant","segdup,lof_flag",2,251280,7.959248646927729e-06,0,0,0,16256,0,0,0,34586,0,0,0,10072,0,0,0,18392,0,0,0,21644,0,0,2,113584,0,0,0,6130,0,0,0,30616,0,0]
["MS4A6A","ENSG00000110077",11,59940516,"rs1396524651","G","C","gnomAD_Genomes","NA","PASS","p.Tyr240Ter","p.Tyr240Ter","c.720C>G","stop_gained","segdup,lc_lof",1,31408,3.1839021905247105e-05,0,0,1,8714,0,0,0,848,0,0,0,288,0,0,0,1560,0,0,0,3476,0,0,0,15434,0,0,0,1088,0,0,0,0,0,0]
["MS4A6A","ENSG00000110077",11,59939671,"rs1245042257","A","AT","gnomAD_Exomes","PASS","NA","p.Met236AsnfsTer4","p.Met236AsnfsTer4","c.706dupA","frameshift_variant","segdup,lc_lof",1,251012,3.98387328095868e-06,0,0,0,16246,0,0,1,34568,0,0,0,10070,0,0,0,18394,0,0,0,21592,0,0,0,113414,0,0,0,6126,0,0,0,30602,0,0]
["MS4A6A","ENSG00000110077",11,59947267,"rs756638678","T","A","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Arg107Ter","p.Arg107Ter","c.319A>T","stop_gained","lc_lof",14,282388,4.9577177500460405e-05,0,0,13,24942,0,0,0,35392,0,0,0,10362,0,0,0,19942,0,0,0,25116,0,0,1,128812,0,0,0,7212,0,0,0,30610,0,0]
["MS4A6A","ENSG00000110077",11,59947293,"rs767248647","ACT","A","gnomAD_Exomes","PASS","NA","p.Arg97SerfsTer3","p.Arg97SerfsTer3","c.291_292delAG","frameshift_variant","lc_lof",1,251150,3.9816842524387796e-06,0,0,0,16256,0,0,0,34568,0,0,0,10074,0,0,0,18394,0,0,0,21648,0,0,1,113474,0,0,0,6126,0,0,0,30610,0,0]
["MTERF1","ENSG00000127989",7,91509970,"rs771550897","C","T","gnomAD_Genomes","NA","PASS","c.-31+1G>A",null,"c.-31+1G>A","splice_donor_variant","lc_lof",1,31414,3.1832940727064406e-05,0,0,0,8718,0,0,0,848,0,0,0,290,0,0,0,1558,0,0,0,3476,0,0,1,15436,0,0,0,1088,0,0,0,0,0,0]
["MTERF1","ENSG00000127989",7,91502978,null,"TTTAAA","T","gnomAD_Exomes","PASS","NA","p.Leu376HisfsTer8","p.Leu376HisfsTer8","c.1125_1129delTTTAA","frameshift_variant","lc_lof",1,249814,4.00297821579255e-06,0,0,0,16250,0,0,0,34502,0,0,0,10070,0,0,0,18392,0,0,0,21616,0,0,1,112286,0,0,0,6104,0,0,0,30594,0,0]
["MYL12A","ENSG00000101608",18,3253429,"rs766454081","A","C","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","c.181+3A>C",null,"c.181+3A>C","splice_region_variant","lc_lof,os_lof",5,280674,1.78142613850944e-05,0,0,0,24932,0,0,0,34952,0,0,0,10252,0,0,0,19896,0,0,0,25018,0,0,5,128114,0,0,0,7170,0,0,0,30340,0,0]
["MYL5","ENSG00000215375",4,668001,"rs759942026","C","T","gnomAD_Exomes","PASS","NA","c.36G>A","c.36G>A(p.=)","c.36G>A","splice_region_variant","lc_lof,os_lof",1,245740,4.069341580532269e-06,0,0,0,15752,0,0,0,34338,0,0,0,9944,0,0,0,18252,0,0,0,21124,0,0,1,109848,0,0,0,6020,0,0,0,30462,0,0]
["MYL5","ENSG00000215375",4,667768,"rs1244043182","T","C","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","c.-121+2T>C",null,"c.-121+2T>C","splice_donor_variant","lc_lof",8,170578,4.689936568607911e-05,0,0,0,15456,0,0,0,25348,0,0,0,8532,0,0,0,12222,0,0,0,13770,0,0,8,67408,0,0,0,5216,0,0,0,22626,0,0]
["MYL5","ENSG00000215375",4,675777,"rs76052398","GGAGT","G","gnomAD_Exomes","PASS","NA","p.His549ProfsTer8","p.His549ProfsTer8","c.1646_1649delACTC","frameshift_variant","lc_lof",17,140804,0.00012073520638600001,0,0,0,9812,0,0,17,13882,0,0,0,3826,0,0,0,8682,0,0,0,17306,0,0,0,70442,0,0,0,2704,0,0,0,14150,0,0]
["MZT2B","ENSG00000152082",2,130939388,"rs1401113537","A","AGGAATCCGCGTGCGCGTAAGCAGTATT","gnomAD_Exomes","PASS","NA","c.46_59+13dupGAATCCGCGTGCGCGTAAGCAGTATTG",null,"c.46_59+13dupGAATCCGCGTGCGCGTAAGCAGTATTG","stop_gained","segdup,lof_flag",1,146602,6.82118934257377e-06,0,0,0,6684,0,0,0,24550,0,0,0,8374,0,0,1,10732,0,0,0,15272,0,0,0,54210,0,0,0,4260,0,0,0,22520,0,0]
["MZT2B","ENSG00000152082",2,130940348,"rs1280879684","G","A","gnomAD_Exomes","PASS","NA","p.Gly107Arg","p.Gly107Arg","c.319G>A","missense_variant","segdup,lc_lof,os_lof",1,93640,1.0679196924391303e-05,0,0,0,5926,0,0,0,20178,0,0,0,4036,0,0,0,9912,0,0,0,5476,0,0,1,32112,0,0,0,2888,0,0,0,13112,0,0]
["MZT2B","ENSG00000152082",2,130948103,"rs752274155","C","T","gnomAD_Exomes","PASS","NA","p.Arg68Ter","p.Arg68Ter","c.202C>T","stop_gained","segdup,lc_lof",4,249916,1.60053778069431e-05,0,0,0,15856,0,0,1,34560,0,0,0,10022,0,0,0,18290,0,0,0,21608,0,0,3,112862,0,0,0,6110,0,0,0,30608,0,0]
["MZT2B","ENSG00000152082",2,130948144,"rs1225579261","C","A","gnomAD_Exomes","PASS","NA","p.Tyr81Ter","p.Tyr81Ter","c.243C>A","stop_gained","segdup,lc_lof",1,248658,4.02158788376002e-06,0,0,0,15090,0,0,1,34546,0,0,0,10026,0,0,0,18230,0,0,0,21612,0,0,0,112500,0,0,0,6058,0,0,0,30596,0,0]
["MZT2B","ENSG00000152082",2,130948154,"rs1199270147","C","CA","gnomAD_Exomes","PASS","NA","p.Gly148ArgfsTer34","p.Gly148ArgfsTer34","c.434dupA","frameshift_variant","segdup,lc_lof",1,248316,4.0271267256238e-06,0,0,0,14982,0,0,0,34542,0,0,0,10016,0,0,1,18212,0,0,0,21604,0,0,0,112318,0,0,0,6042,0,0,0,30600,0,0]
["MZT2B","ENSG00000152082",2,130948156,"rs768776976","A","AG","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Gly148ArgfsTer34","p.Gly148ArgfsTer34","c.440dupG","frameshift_variant","segdup,lc_lof",22,279578,7.869002568156291e-05,0,0,0,23666,0,0,1,35386,0,0,0,10302,0,0,17,19758,0,0,1,25072,0,0,2,127664,0,0,1,7132,0,0,0,30598,0,0]
["NAT9","ENSG00000109065",17,72768194,"rs1356560791","C","A","gnomAD_Genomes","NA","PASS","c.395-1G>T",null,"c.395-1G>T","splice_acceptor_variant","lof_flag",1,31404,3.18430773149917e-05,0,0,0,8712,0,0,0,848,0,0,0,290,0,0,0,1560,0,0,1,3472,0,0,0,15434,0,0,0,1088,0,0,0,0,0,0]
["NAT9","ENSG00000109065",17,72768354,"rs533107055","T","A","gnomAD_Exomes","PASS","NA","c.394+3A>T",null,"c.394+3A>T","splice_region_variant","lc_lof,os_lof",2,251388,7.95582923608128e-06,0,0,0,16252,0,0,0,34584,0,0,0,10080,0,0,2,18394,0,0,0,21636,0,0,0,113692,0,0,0,6136,0,0,0,30614,0,0]
["NAT9","ENSG00000109065",17,72767929,"rs370707053","C","T","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Trp186Ter","p.Trp186Ter","c.558G>A","stop_gained","lc_lof",4,282710,1.41487743624209e-05,0,0,3,24958,0,0,0,35436,0,0,0,10364,0,0,0,19954,0,0,0,25118,0,0,1,129040,0,0,0,7224,0,0,0,30616,0,0]
["NAT9","ENSG00000109065",17,72767891,"rs1214509780","T","TAAGGCTTCTCTTC","gnomAD_Genomes","NA","PASS","p.Tyr199Ter","p.Tyr199Ter","c.583_595dupGAAGAGAAGCCTT","stop_gained","lc_lof",1,31392,3.1855249745158005e-05,0,0,1,8710,0,0,0,848,0,0,0,290,0,0,0,1560,0,0,0,3474,0,0,0,15422,0,0,0,1088,0,0,0,0,0,0]
["NCAM2","ENSG00000154654",21,22582979,"rs769035699","A","AC","gnomAD_Exomes","PASS","NA","p.Glu34ArgfsTer20","p.Glu34ArgfsTer20","c.99_100insC","frameshift_variant","lof_flag",1,117194,8.53286004402956e-06,0,0,0,5808,0,0,0,22760,0,0,0,7066,0,0,0,10008,0,0,0,4696,0,0,1,42978,0,0,0,3604,0,0,0,20274,0,0]
["NCAM2","ENSG00000154654",21,22652895,"rs771342226","C","G","gnomAD_Exomes","PASS","NA","c.56-3C>G",null,"c.56-3C>G","splice_region_variant","lc_lof,os_lof",1,213602,4.68160410483048e-06,0,0,0,13264,0,0,0,27568,0,0,1,8864,0,0,0,16054,0,0,0,19166,0,0,0,98892,0,0,0,5230,0,0,0,24564,0,0]
["NCDN","ENSG00000020129",1,36024287,"rs79423278","G","T","gnomAD_Genomes","NA","PASS","c.-19+1G>T",null,"c.-19+1G>T","splice_donor_variant","lc_lof",52,31370,0.0016576346828180001,0,0,7,8704,0,0,3,848,0,0,2,290,0,0,0,1560,0,0,1,3472,0,0,38,15412,0,0,1,1084,0,0,0,0,0,0]
["NEU4","ENSG00000204099",2,242754734,"rs1228145767","G","A","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Trp14Ter","p.Trp14Ter","c.41G>A","stop_gained","lof_flag",2,174624,1.1453179402602202e-05,0,0,0,15258,0,0,0,24538,0,0,0,8548,0,0,0,11964,0,0,0,18702,0,0,1,68444,0,0,0,5212,0,0,1,21958,0,0]
["NEU4","ENSG00000204099",2,242752525,"rs1333980739","TG","T","gnomAD_Exomes","PASS","NA","p.Met1?","p.Met1?","c.3delG","frameshift_variant","lof_flag",1,227850,4.3888523151196e-06,0,0,0,14262,0,0,0,30666,0,0,0,9334,0,0,0,15280,0,0,0,21254,0,0,1,104276,0,0,0,5350,0,0,0,27428,0,0]
["NEU4","ENSG00000204099",2,242757717,"rs570276083","G","A","gnomAD_Exomes","PASS","NA","p.Trp181Ter","p.Trp181Ter","c.542G>A","stop_gained","lc_lof,lof_flag",34,218740,0.00015543567706,2,0,0,12624,0,0,0,32896,0,0,0,9312,0,0,1,16726,0,0,0,16242,0,0,0,96846,0,0,0,5444,0,0,33,28650,2,0]
["NEU4","ENSG00000204099",2,242755882,"rs766530902","GGTGA","G","gnomAD_Genomes","NA","PASS","c.240+8_240+11delAGTG",null,"c.240+8_240+11delAGTG","splice_donor_variant","lc_lof",1,31366,3.18816552955429e-05,0,0,0,8698,0,0,0,846,0,0,0,290,0,0,0,1560,0,0,0,3472,0,0,1,15412,0,0,0,1088,0,0,0,0,0,0]
["NEU4","ENSG00000204099",2,242758249,"rs765046484","AG","A","gnomAD_Exomes","PASS","NA","p.Thr458ProfsTer119","p.Thr458ProfsTer119","c.1371delG","frameshift_variant","lc_lof",3,244272,1.2281391235999201e-05,0,0,0,14552,0,0,0,34412,0,0,0,9884,0,0,0,18084,0,0,0,21514,0,0,3,109336,0,0,0,5986,0,0,0,30504,0,0]
["NEU4","ENSG00000204099",2,242758285,"rs751664805","TC","T","gnomAD_Exomes","PASS","NA","p.Leu470CysfsTer107","p.Leu470CysfsTer107","c.1408delC","frameshift_variant","lc_lof",2,242550,8.245722531436821e-06,0,0,0,14186,0,0,0,34268,0,0,0,9856,0,0,0,17876,0,0,0,21328,0,0,1,108778,0,0,0,5934,0,0,1,30324,0,0]
["NKAPD1","ENSG00000150776",11,111945610,"rs59038861","G","A","gnomAD_Genomes","NA","PASS","c.-38-1G>A",null,"c.-38-1G>A","splice_acceptor_variant","lc_lof",2712,31396,0.086380430628106,351,0,2499,8702,349,0,27,848,0,0,7,290,0,0,0,1560,0,0,14,3476,0,0,139,15432,1,0,26,1088,1,0,0,0,0,0]
["NKAPD1","ENSG00000150776",11,111946290,"rs1369007794","G","A","gnomAD_Exomes","PASS","NA","c.-8-1G>A",null,"c.-8-1G>A","splice_acceptor_variant","lc_lof",1,241258,4.144940271410689e-06,0,0,0,15046,0,0,0,32274,0,0,0,9896,0,0,0,17418,0,0,0,21438,0,0,1,110878,0,0,0,5882,0,0,0,28426,0,0]
["NME6","ENSG00000172113",3,48336714,"rs538239861","C","A","gnomAD_Exomes","PASS","NA","p.Glu69Ter","p.Glu69Ter","c.205G>T","stop_gained","lof_flag",3,250030,1.1998560172779301e-05,0,0,0,16180,0,0,0,34454,0,0,0,10002,0,0,0,18342,0,0,0,21542,0,0,2,112858,0,0,1,6094,0,0,0,30558,0,0]
["NME6","ENSG00000172113",3,48340455,"rs530886352","T","A","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Tyr78Ter","p.Tyr78Ter","c.234T>A","stop_gained","lc_lof",59,169034,0.00034904220452700003,0,0,56,15250,0,0,2,25300,0,0,0,8602,0,0,0,12064,0,0,0,10446,0,0,0,69578,0,0,1,5310,0,0,0,22484,0,0]
["NME6","ENSG00000172113",3,48342759,"rs756844132","C","A","gnomAD_Exomes","PASS","NA","c.-8+1G>T",null,"c.-8+1G>T","splice_donor_variant","lc_lof",1,218928,4.567711759117149e-06,0,0,0,13486,0,0,0,31478,0,0,0,9304,0,0,0,16718,0,0,0,18644,0,0,0,96824,0,0,0,5386,0,0,1,27088,0,0]
["NSUN4","ENSG00000117481",1,46827475,"rs781152769","AT","A","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Phe372LeufsTer12","p.Phe372LeufsTer12","c.1116delT","frameshift_variant","lc_lof",2,282756,7.07323628853146e-06,0,0,0,24968,0,0,0,35432,0,0,0,10366,0,0,0,19950,0,0,0,25112,0,0,2,129102,0,0,0,7218,0,0,0,30608,0,0]
["NTN4","ENSG00000074527",12,96104216,"rs894987270","T","TA","gnomAD_Exomes","PASS","NA","c.1180+2dupT",null,"c.1180+2dupT","splice_region_variant","lc_lof,os_lof",1,248992,4.016193291350729e-06,0,0,0,16228,0,0,0,34038,0,0,0,9890,0,0,0,18306,0,0,0,21558,0,0,1,112694,0,0,0,6042,0,0,0,30236,0,0]
["NUDT1","ENSG00000106268",7,2289489,"rs1398806340","C","G","gnomAD_Exomes","PASS","NA","c.222-3C>G",null,"c.222-3C>G","splice_region_variant","lc_lof,os_lof",1,250218,3.99651503888609e-06,0,0,0,16236,0,0,0,34570,0,0,0,10064,0,0,0,18386,0,0,0,20894,0,0,1,113330,0,0,0,6124,0,0,0,30614,0,0]
["NUDT1","ENSG00000106268",7,2289642,"rs180863777","G","A","gnomAD_Exomes","PASS","NA","c.367+5G>A",null,"c.367+5G>A","splice_region_variant","lc_lof,os_lof",1,250518,3.99172913722766e-06,0,0,0,16208,0,0,0,34576,0,0,0,10046,0,0,0,18386,0,0,0,21434,0,0,1,113128,0,0,0,6126,0,0,0,30614,0,0]
["NUDT1","ENSG00000106268",7,2290533,"rs754832477","G","A","gnomAD_Exomes","PASS","NA","p.Trp146Ter","p.Trp146Ter","c.437G>A","stop_gained","lc_lof",1,251492,3.9762696228905896e-06,0,0,0,16256,0,0,0,34592,0,0,0,10080,0,0,0,18394,0,0,0,21648,0,0,1,113766,0,0,0,6140,0,0,0,30616,0,0]
["NUDT1","ENSG00000106268",7,2281892,"rs1262699517","G","C","gnomAD_Genomes","NA","PASS","c.-68+1G>C",null,"c.-68+1G>C","splice_donor_variant","lc_lof",1,31388,3.18593092901746e-05,0,0,1,8712,0,0,0,848,0,0,0,288,0,0,0,1560,0,0,0,3474,0,0,0,15418,0,0,0,1088,0,0,0,0,0,0]
["NUMBL","ENSG00000105245",19,41188633,"rs772896179","C","A","gnomAD_Exomes","PASS","NA","p.Lys133Asn","p.Lys133Asn","c.399G>T","missense_variant","lc_lof,os_lof",1,251070,3.98295296132553e-06,0,0,0,16250,0,0,0,34564,0,0,0,10048,0,0,0,18394,0,0,0,21624,0,0,1,113464,0,0,0,6128,0,0,0,30598,0,0]
["NUP35","ENSG00000163002",2,183983472,"rs1252881069","T","G","gnomAD_Genomes","NA","PASS","c.-121+2T>G",null,"c.-121+2T>G","splice_donor_variant","lc_lof",1,31368,3.1879622545269104e-05,0,0,0,8700,0,0,1,848,0,0,0,290,0,0,0,1560,0,0,0,3474,0,0,0,15412,0,0,0,1084,0,0,0,0,0,0]
["NUP50","ENSG00000093000",22,45567035,"rs132876","C","T","gnomAD_Genomes","NA","PASS","c.-16+2C>T",null,"c.-16+2C>T","splice_donor_variant","lc_lof,lof_flag",7103,31300,0.226932907348243,944,0,2106,8666,259,0,202,846,19,0,21,290,0,0,900,1532,250,0,993,3472,154,0,2624,15406,229,0,257,1088,33,0,0,0,0,0]
["OSBPL8","ENSG00000091039",12,76780359,"rs753065030","C","T","gnomAD_Exomes","PASS","NA","c.1434G>A","c.1434G>A(p.=)","c.1434G>A","splice_region_variant","lc_lof,os_lof",1,240762,4.1534793696679695e-06,0,0,0,15710,0,0,0,31918,0,0,0,9648,0,0,0,17832,0,0,0,21490,0,0,0,110692,0,0,1,5856,0,0,0,27616,0,0]
["OSBPL8","ENSG00000091039",12,76928063,"rs573533285","T","C","gnomAD_Genomes","NA","PASS","c.-204-2A>G",null,"c.-204-2A>G","splice_acceptor_variant","lc_lof",45,31408,0.0014327559857360002,0,0,3,8716,0,0,0,848,0,0,0,290,0,0,0,1560,0,0,1,3474,0,0,41,15434,0,0,0,1086,0,0,0,0,0,0]
["OSBPL8","ENSG00000091039",12,76931767,"rs1463552473","C","T","gnomAD_Genomes","NA","PASS","c.-272-1G>A",null,"c.-272-1G>A","splice_acceptor_variant","lc_lof",1,31334,3.1914214591178905e-05,0,0,1,8708,0,0,0,846,0,0,0,288,0,0,0,1556,0,0,0,3456,0,0,0,15398,0,0,0,1082,0,0,0,0,0,0]
["OSGIN2","ENSG00000164823",8,90937731,"rs769116791","G","GA","gnomAD_Exomes","PASS","NA","p.Arg542LysfsTer15","p.Arg542LysfsTer15","c.1624dupA","frameshift_variant","lc_lof",3,250722,1.19654437983105e-05,0,0,0,16208,0,0,3,34504,0,0,0,10064,0,0,0,18370,0,0,0,21588,0,0,0,113290,0,0,0,6104,0,0,0,30594,0,0]
["OXNAD1","ENSG00000154814",3,16313160,"rs1359794567","T","G","gnomAD_Exomes","PASS","NA","c.120-6T>G",null,"c.120-6T>G","splice_region_variant","lc_lof,os_lof",3,228318,1.31395684965706e-05,0,0,0,15708,0,0,1,27136,0,0,0,8800,0,0,0,16674,0,0,0,21208,0,0,2,107680,0,0,0,5522,0,0,0,25590,0,0]
["OXNAD1","ENSG00000154814",3,16345101,"rs201809684","T","C","gnomAD_Exomes","PASS","NA","c.*30+2T>C",null,"c.*30+2T>C","splice_donor_variant","lc_lof",4,244422,1.6365138980942802e-05,0,0,0,15688,0,0,4,34042,0,0,0,9926,0,0,0,17658,0,0,0,21112,0,0,0,110188,0,0,0,5934,0,0,0,29874,0,0]
["PARP3","ENSG00000041880",3,51979866,"rs773455270","C","G","gnomAD_Exomes","PASS","NA","c.1033-3C>G",null,"c.1033-3C>G","splice_region_variant","lc_lof,os_lof",2,249380,8.019889325527309e-06,0,0,0,15478,0,0,0,34510,0,0,0,10066,0,0,0,17978,0,0,0,21556,0,0,2,113136,0,0,0,6054,0,0,0,30602,0,0]
["PARP3","ENSG00000041880",3,51982442,"rs755931469","CA","C","gnomAD_Exomes","PASS","NA","p.Ile524SerfsTer32","p.Ile524SerfsTer32","c.1570delA","frameshift_variant","lc_lof",3,249370,1.20303163973212e-05,0,0,0,15480,0,0,3,34498,0,0,0,10056,0,0,0,17976,0,0,0,21560,0,0,0,113140,0,0,0,6058,0,0,0,30602,0,0]
["PBXIP1","ENSG00000163346",1,154924361,"rs753595912","TC","T","gnomAD_Exomes","PASS","NA","p.Met30TrpfsTer23","p.Met30TrpfsTer23","c.87delG","frameshift_variant","lof_flag",4,249876,1.6007939938209403e-05,0,0,0,16210,0,0,4,33924,0,0,0,10012,0,0,0,18230,0,0,0,21612,0,0,0,113280,0,0,0,6080,0,0,0,30528,0,0]
["PBXIP1","ENSG00000163346",1,154923768,"rs1186534441","C","CG","gnomAD_Exomes","PASS","NA","p.Asp117ArgfsTer33","p.Asp117ArgfsTer33","c.348_349insC","frameshift_variant","lof_flag",1,251368,3.97823111931511e-06,0,0,0,16254,0,0,1,34576,0,0,0,10076,0,0,0,18392,0,0,0,21640,0,0,0,113682,0,0,0,6134,0,0,0,30614,0,0]
["PBXIP1","ENSG00000163346",1,154920453,"rs1486580023","C","G","gnomAD_Exomes","PASS","NA","c.667+5G>C",null,"c.667+5G>C","splice_region_variant","lc_lof,os_lof",2,251292,7.95886856724448e-06,0,0,0,16250,0,0,2,34558,0,0,0,10066,0,0,0,18392,0,0,0,21644,0,0,0,113644,0,0,0,6132,0,0,0,30606,0,0]
["PBXIP1","ENSG00000163346",1,154917531,"rs1490173950","C","CT","gnomAD_Exomes","PASS","NA","p.Ser722LysfsTer3","p.Ser722LysfsTer3","c.2164dupA","frameshift_variant","lc_lof",1,250780,3.98755881649254e-06,0,0,0,16246,0,0,0,34574,0,0,0,10064,0,0,0,18392,0,0,0,21552,0,0,1,113214,0,0,0,6122,0,0,0,30616,0,0]
["PDE1B","ENSG00000123360",12,54943990,"rs1236469305","G","A","gnomAD_Genomes","NA","PASS","c.-11+1G>A",null,"c.-11+1G>A","splice_donor_variant","lc_lof",1,31398,3.18491623670297e-05,0,0,1,8714,0,0,0,848,0,0,0,290,0,0,0,1560,0,0,0,3476,0,0,0,15422,0,0,0,1088,0,0,0,0,0,0]
["PHC3","ENSG00000173889",3,169820474,"rs1232862939","C","T","gnomAD_Exomes","PASS","NA","c.2443-1G>A",null,"c.2443-1G>A","splice_acceptor_variant","lof_flag",1,248612,4.0223319871929004e-06,0,0,0,15482,0,0,1,34492,0,0,0,10042,0,0,0,17966,0,0,0,21544,0,0,0,112458,0,0,0,6026,0,0,0,30602,0,0]
["PHC3","ENSG00000173889",3,169820463,"rs1356880892","C","T","gnomAD_Genomes","NA","PASS","p.Trp818Ter","p.Trp818Ter","c.2453G>A","stop_gained","lc_lof",1,31408,3.1839021905247105e-05,0,0,1,8716,0,0,0,848,0,0,0,290,0,0,0,1560,0,0,0,3476,0,0,0,15432,0,0,0,1086,0,0,0,0,0,0]
["PHC3","ENSG00000173889",3,169804890,"rs141450295","C","CTGTT","gnomAD_Genomes","NA","PASS","c.*59-5_*59-2dupAACA",null,"c.*59-5_*59-2dupAACA","splice_acceptor_variant","lc_lof",2,31392,6.371049949031601e-05,0,0,0,8716,0,0,0,846,0,0,0,290,0,0,1,1558,0,0,0,3470,0,0,1,15426,0,0,0,1086,0,0,0,0,0,0]
["PHF19","ENSG00000119403",9,123636341,"rs1444443701","G","C","gnomAD_Exomes","PASS","NA","c.187-3C>G",null,"c.187-3C>G","splice_region_variant","lc_lof,os_lof",1,249284,4.0114889042216906e-06,0,0,0,16222,0,0,0,34054,0,0,0,9920,0,0,0,18304,0,0,0,21570,0,0,1,112906,0,0,0,6042,0,0,0,30266,0,0]
["PHF19","ENSG00000119403",9,123639258,"rs932127557","C","G","gnomAD_Genomes","NA","PASS","c.-16+1G>C",null,"c.-16+1G>C","splice_donor_variant","lc_lof",1,31266,3.19836243843152e-05,0,0,0,8674,0,0,0,846,0,0,0,290,0,0,0,1556,0,0,0,3464,0,0,0,15356,0,0,1,1080,0,0,0,0,0,0]
["PHF19","ENSG00000119403",9,123631997,"rs374534932","GCTAT","G","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Asp196AlafsTer22","p.Asp196AlafsTer22","c.587_590delATAG","frameshift_variant","lc_lof",27,198352,0.000136121642333,0,0,2,18574,0,0,1,26428,0,0,0,8896,0,0,0,14308,0,0,0,19152,0,0,24,81838,0,0,0,5680,0,0,0,23476,0,0]
["PIN4","ENSG00000102309","X",71416757,"rs1482038738","A","T","gnomAD_Exomes","PASS","NA","c.312+3A>T",null,"c.312+3A>T","splice_region_variant","lc_lof,os_lof",2,161650,1.23724095267553e-05,0,0,0,12124,0,0,0,21471,0,0,0,6371,0,0,1,11735,0,0,0,15505,0,0,0,75738,0,0,0,3844,0,0,1,14862,0,0]
["PLD4","ENSG00000166428",14,105394076,"rs764476776","C","T","gnomAD_Exomes","PASS","NA","p.Gln53Ter","p.Gln53Ter","c.157C>T","stop_gained","lof_flag",1,224438,4.45557347686221e-06,0,0,0,13482,0,0,0,32626,0,0,0,9566,0,0,0,16982,0,0,0,14786,0,0,0,103204,0,0,1,5554,0,0,0,28238,0,0]
["PLD4","ENSG00000166428",14,105394190,"rs772388035","AG","A","gnomAD_Exomes","PASS","NA","p.Asp92ThrfsTer146","p.Asp92ThrfsTer146","c.274delG","frameshift_variant","lof_flag",1,208710,4.79133726222989e-06,0,0,0,12296,0,0,0,31430,0,0,0,9210,0,0,0,16346,0,0,0,10002,0,0,1,96626,0,0,0,5288,0,0,0,27512,0,0]
["PLD4","ENSG00000166428",14,105395274,"rs757957929","G","A","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","c.468+5G>A",null,"c.468+5G>A","splice_region_variant","lc_lof,os_lof",14,272764,5.13264213752548e-05,0,0,1,23960,0,0,2,34780,0,0,0,9716,0,0,2,19424,0,0,0,24558,0,0,9,124084,0,0,0,6960,0,0,0,29282,0,0]
["PLD4","ENSG00000166428",14,105399200,"rs755140665","C","T","gnomAD_Exomes","PASS","NA","p.Gln474Ter","p.Gln474Ter","c.1420C>T","stop_gained","lc_lof",2,224082,8.92530412973822e-06,0,0,0,12794,0,0,0,33016,0,0,0,9470,0,0,1,16852,0,0,0,18874,0,0,1,98908,0,0,0,5524,0,0,0,28644,0,0]
["PLD4","ENSG00000166428",14,105399141,"rs545492914","C","CG","gnomAD_Exomes","PASS","NA","p.Val456GlyfsTer27","p.Val456GlyfsTer27","c.1366dupG","frameshift_variant","lc_lof",1,225782,4.42905103152599e-06,0,0,0,13126,0,0,0,33076,0,0,0,9324,0,0,0,17186,0,0,0,19150,0,0,0,99552,0,0,0,5538,0,0,1,28830,0,0]
["POLD2","ENSG00000106628",7,44154393,"rs754937998","C","CA","gnomAD_Exomes","PASS","NA","p.Ter470LeufsTer25","p.Ter470LeufsTer25","c.1400dupT","frameshift_variant","segdup,lc_lof",1,249224,4.012454659262349e-06,0,0,0,15800,0,0,1,34330,0,0,0,9968,0,0,0,18306,0,0,0,21544,0,0,0,112692,0,0,0,6064,0,0,0,30520,0,0]
["POLD2","ENSG00000106628",7,44161709,"rs771509546","C","T","gnomAD_Exomes","PASS","NA","c.-56-1G>A",null,"c.-56-1G>A","splice_acceptor_variant","lc_lof",1,224572,4.452914878079189e-06,0,0,1,15046,0,0,0,31414,0,0,0,8406,0,0,0,17376,0,0,0,19334,0,0,0,100250,0,0,0,5532,0,0,0,27214,0,0]
["POLD3","ENSG00000077514",11,74336562,"rs1413278764","G","GA","gnomAD_Exomes","PASS","NA","p.Ser284IlefsTer9","p.Ser284IlefsTer9","c.849dupA","frameshift_variant","lof_flag",1,250718,3.9885448990499296e-06,0,0,0,16078,0,0,0,34428,0,0,0,10068,0,0,0,18330,0,0,0,21644,0,0,0,113498,0,0,0,6106,0,0,1,30566,0,0]
["POLD3","ENSG00000077514",11,74205019,"rs975745613","G","A","gnomAD_Genomes","NA","PASS","c.-58+1G>A",null,"c.-58+1G>A","splice_donor_variant","lc_lof",2,31402,6.36902108145978e-05,0,0,2,8714,0,0,0,848,0,0,0,290,0,0,0,1560,0,0,0,3476,0,0,0,15426,0,0,0,1088,0,0,0,0,0,0]
["PSMC5","ENSG00000087191",17,61909173,"rs1456282098","A","G","gnomAD_Exomes","PASS","NA","c.1167+3A>G",null,"c.1167+3A>G","splice_region_variant","segdup,lc_lof,os_lof",1,251446,3.9769970490681895e-06,0,0,0,16254,0,0,0,34572,0,0,0,10076,0,0,0,18394,0,0,0,21648,0,0,1,113752,0,0,0,6134,0,0,0,30616,0,0]
["PSMG2","ENSG00000128789",18,12712764,"rs774540721","G","C","gnomAD_Exomes","PASS","NA","c.288+5G>C",null,"c.288+5G>C","splice_region_variant","lc_lof,os_lof",3,249062,1.20451935662606e-05,0,0,0,16200,0,0,0,33962,0,0,0,10032,0,0,3,18320,0,0,0,21628,0,0,0,113138,0,0,0,6082,0,0,0,29700,0,0]
["PSMG2","ENSG00000128789",18,12725510,"rs1436504692","C","CT","gnomAD_Exomes","PASS","NA","p.Pro260SerfsTer8","p.Pro260SerfsTer8","c.777dupT","frameshift_variant","lc_lof",1,250864,3.98622361119969e-06,0,0,0,16228,0,0,0,34420,0,0,0,10072,0,0,0,18330,0,0,0,21632,0,0,0,113530,0,0,0,6118,0,0,1,30534,0,0]
["RAB5C","ENSG00000108774",17,40278649,"rs71357528","CA","C","gnomAD_Exomes","PASS","NA","p.Ter151Glu","p.Ter151Glu","c.451delT","frameshift_variant","lcr,lc_lof",391,27928,0.014000286450874,0,0,27,1818,0,0,116,2258,0,0,16,584,0,0,58,1734,0,0,5,4332,0,0,112,13860,0,0,13,528,0,0,44,2814,0,0]
["RAB5C","ENSG00000108774",17,40278649,"rs71357528","CAA","C","gnomAD_Exomes","PASS","NA","p.Phe150Leu","p.Phe150Leu","c.450_451delTT","frameshift_variant","lcr,lc_lof",248,27928,0.00887997708393,0,0,11,1818,0,0,74,2258,0,0,15,584,0,0,31,1734,0,0,2,4332,0,0,83,13860,0,0,6,528,0,0,26,2814,0,0]
["RAB5C","ENSG00000108774",17,40278649,"rs71357528","C","CAA","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Ter151Phe","p.Ter151Phe","c.450_451dupTT","frameshift_variant","lcr,lc_lof",224,30416,0.007364544976328001,55,0,114,2720,37,0,13,2308,0,0,3,612,0,0,1,1882,0,0,0,4358,0,0,84,15134,16,0,5,588,2,0,4,2814,0,0]
["RAB5C","ENSG00000108774",17,40278743,"rs756309766","GGA","G","gnomAD_Exomes","PASS","NA","p.Leu119ProfsTer13","p.Leu119ProfsTer13","c.356_357delTC","frameshift_variant","lc_lof",2,249818,8.00582824296088e-06,0,0,0,16150,0,0,0,34378,0,0,0,9966,0,0,0,18280,0,0,0,21572,0,0,2,113004,0,0,0,6104,0,0,0,30364,0,0]
["RAMP1","ENSG00000132329",2,238820402,"rs750677639","A","T","gnomAD_Exomes","PASS","NA","p.Lys142Ter","p.Lys142Ter","c.424A>T","stop_gained","lc_lof",3,240788,1.24590926458129e-05,0,0,3,15278,0,0,0,33764,0,0,0,9810,0,0,0,17950,0,0,0,20056,0,0,0,108346,0,0,0,5858,0,0,0,29726,0,0]
["RAP1GAP2","ENSG00000132359",17,2861051,"rs753314381","AGTC","A","gnomAD_Exomes","PASS","NA","c.169_171delTCG","p.Ser57del","c.169_171delTCG","splice_acceptor_variant","lc_lof",1,243066,4.1141089251479e-06,0,0,0,15050,0,0,0,32816,0,0,0,9910,0,0,0,17124,0,0,0,21518,0,0,0,111210,0,0,0,5744,0,0,1,29694,0,0]
["RAPGEF3","ENSG00000079337",12,48145176,"rs1261375771","GC","G","gnomAD_Exomes","PASS","NA","c.502+5delG",null,"c.502+5delG","splice_region_variant","lc_lof,os_lof",1,249930,4.00112031368783e-06,0,0,0,16094,0,0,0,34518,0,0,0,10018,0,0,0,18370,0,0,0,21370,0,0,0,112854,0,0,1,6112,0,0,0,30594,0,0]
["RAPGEF3","ENSG00000079337",12,48131367,"rs372112971","G","A","gnomAD_Exomes","PASS","NA","p.Arg919Ter","p.Arg919Ter","c.2755C>T","stop_gained","lc_lof",2,217904,9.17835377046773e-06,0,0,0,13724,0,0,0,31854,0,0,0,8852,0,0,0,16614,0,0,0,17326,0,0,1,97206,0,0,0,5424,0,0,1,26904,0,0]
["RAPGEF3","ENSG00000079337",12,48164637,"rs1477707057","TAC","T","gnomAD_Exomes","PASS","NA","c.-121+1_-121+2delGT",null,"c.-121+1_-121+2delGT","splice_donor_variant","lc_lof",1,134620,7.42831674342594e-06,0,0,0,6440,0,0,0,24474,0,0,0,8298,0,0,0,10512,0,0,0,5386,0,0,1,52876,0,0,0,4142,0,0,0,22492,0,0]
["RAPGEF3","ENSG00000079337",12,48153997,null,"A","G","gnomAD_Genomes","NA","PASS","c.-372-2A>G",null,"c.-372-2A>G","splice_acceptor_variant","lc_lof",1,31408,3.1839021905247105e-05,0,0,0,8716,0,0,0,846,0,0,0,290,0,0,0,1560,0,0,0,3476,0,0,1,15434,0,0,0,1086,0,0,0,0,0,0]
["RASGEF1A","ENSG00000198915",10,43698127,"rs1490406882","G","GC","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Ser2ArgfsTer32","p.Ser2ArgfsTer32","c.3dupG","frameshift_variant","lof_flag",2,168420,1.18750742192139e-05,0,0,0,14558,0,0,1,24006,0,0,0,8430,0,0,0,11788,0,0,0,18106,0,0,1,64700,0,0,0,5034,0,0,0,21798,0,0]
["RBBP4","ENSG00000162521",1,33145300,"rs1228567433","G","A","gnomAD_Exomes","PASS","NA","c.490+1G>A",null,"c.490+1G>A","splice_donor_variant","segdup,lc_lof",5,249540,2.0036867836819703e-05,0,0,0,16124,0,0,0,34230,0,0,0,10038,0,0,0,18236,0,0,0,21602,0,0,5,112822,0,0,0,6056,0,0,0,30432,0,0]
["RBBP4","ENSG00000162521",1,33117508,"rs768580497","A","G","gnomAD_Exomes","PASS","NA","c.17-7A>G",null,"c.17-7A>G","splice_region_variant","lc_lof,os_lof",1,249676,4.00519072718243e-06,0,0,0,16042,0,0,0,34130,0,0,0,10016,0,0,0,18320,0,0,0,21624,0,0,1,112900,0,0,0,6066,0,0,0,30578,0,0]
["RFPL3","ENSG00000128276",22,32756625,"rs1476515498","C","T","gnomAD_Exomes","PASS","NA","p.Gln254Ter","p.Gln254Ter","c.760C>T","stop_gained","segdup,lc_lof",1,250304,3.99514190744055e-06,0,0,0,16246,0,0,0,34420,0,0,0,9974,0,0,0,18384,0,0,0,21580,0,0,1,113114,0,0,0,6106,0,0,0,30480,0,0]
["RFPL3","ENSG00000128276",22,32754405,"rs770967067","T","TG","gnomAD_Exomes","PASS","NA","p.Asn117GlufsTer26","p.Asn117GlufsTer26","c.348dupG","frameshift_variant","segdup,lc_lof",1,251382,3.97800956313499e-06,0,0,0,16256,0,0,1,34566,0,0,0,10066,0,0,0,18394,0,0,0,21638,0,0,0,113728,0,0,0,6130,0,0,0,30604,0,0]
["RFPL3","ENSG00000128276",22,32756280,"rs752050399","CT","C","gnomAD_Exomes","PASS","NA","p.Leu139ProfsTer71","p.Leu139ProfsTer71","c.416delT","frameshift_variant","segdup,lc_lof",2,250976,7.968889455565469e-06,0,0,0,16254,0,0,0,34540,0,0,0,10072,0,0,0,18392,0,0,0,21632,0,0,1,113362,0,0,1,6118,0,0,0,30606,0,0]
["RFPL3","ENSG00000128276",22,32756666,"rs1209964061","CTA","C","gnomAD_Exomes","PASS","NA","p.Thr269IlefsTer7","p.Thr269IlefsTer7","c.804_805delTA","frameshift_variant","segdup,lc_lof",1,251272,3.97975102677576e-06,0,0,0,16254,0,0,0,34556,0,0,0,10068,0,0,0,18392,0,0,0,21638,0,0,1,113630,0,0,0,6128,0,0,0,30606,0,0]
["RGMA","ENSG00000182175",15,93609485,"rs777768424","C","A","gnomAD_Exomes","PASS","NA","c.-352-1G>T",null,"c.-352-1G>T","splice_acceptor_variant","segdup,lc_lof",1,251012,3.98387328095868e-06,0,0,1,16220,0,0,0,34556,0,0,0,10072,0,0,0,18374,0,0,0,21588,0,0,0,113470,0,0,0,6128,0,0,0,30604,0,0]
["RGS11","ENSG00000076344",16,318981,"rs1179653854","G","A","gnomAD_Exomes","PASS","NA","p.Trp49Ter","p.Trp49Ter","c.146G>A","stop_gained","lof_flag",2,151538,1.3198009740131202e-05,0,0,0,6760,0,0,0,24566,0,0,0,8384,0,0,0,10782,0,0,0,16768,0,0,2,57412,0,0,0,4330,0,0,0,22536,0,0]
["RGS11","ENSG00000076344",16,321198,null,"C","CA","gnomAD_Genomes","NA","PASS","c.863+2dupT",null,"c.863+2dupT","splice_region_variant","lc_lof,os_lof",1,31360,3.1887755102040806e-05,0,0,0,8694,0,0,0,848,0,0,0,290,0,0,0,1560,0,0,0,3472,0,0,1,15408,0,0,0,1088,0,0,0,0,0,0]
["RGS11","ENSG00000076344",16,321395,"rs764484824","C","A","gnomAD_Exomes","PASS","NA","c.749+3G>T",null,"c.749+3G>T","splice_region_variant","lc_lof,os_lof",1,250370,3.994088748652e-06,0,0,0,16148,0,0,0,34554,0,0,0,10020,0,0,1,18382,0,0,0,21606,0,0,0,112936,0,0,0,6114,0,0,0,30610,0,0]
["RGS11","ENSG00000076344",16,320840,"rs773772912","C","T","gnomAD_Exomes","PASS","NA","c.980-10G>A",null,"c.980-10G>A","intron_variant","lc_lof,os_lof",2,233976,8.54788525318836e-06,0,0,0,14162,0,0,0,33312,0,0,1,9596,0,0,0,17550,0,0,0,20256,0,0,1,103726,0,0,0,5750,0,0,0,29624,0,0]
["RGS11","ENSG00000076344",16,318787,"rs773754897","C","T","gnomAD_Exomes","PASS","NA","p.Arg520Ter","p.Arg520Ter","c.1558C>T","stop_gained","lc_lof",5,148918,3.35755247854524e-05,0,0,3,6756,0,0,1,24560,0,0,0,8376,0,0,1,10776,0,0,0,15024,0,0,0,56626,0,0,0,4278,0,0,0,22522,0,0]
["RGS11","ENSG00000076344",16,324721,"rs1339269061","G","T","gnomAD_Exomes","PASS","NA","p.Ser110Ter","p.Ser110Ter","c.329C>A","stop_gained","lc_lof",1,128388,7.78888992740754e-06,0,0,0,6090,0,0,0,24334,0,0,0,8082,0,0,0,10432,0,0,0,5378,0,0,0,47694,0,0,0,3994,0,0,1,22384,0,0]
["RGS11","ENSG00000076344",16,324810,"rs1221473816","C","T","gnomAD_Exomes","PASS","NA","p.Trp80Ter","p.Trp80Ter","c.240G>A","stop_gained","lc_lof",1,130772,7.64689688924235e-06,0,0,0,6168,0,0,0,24358,0,0,0,8150,0,0,0,10466,0,0,0,5814,0,0,1,49336,0,0,0,4074,0,0,0,22406,0,0]
["RGS11","ENSG00000076344",16,324804,"rs1054937242","T","TG","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Ser83LysfsTer46","p.Ser83LysfsTer46","c.245dupC","frameshift_variant","lc_lof",3,161658,1.8557695876480003e-05,0,0,3,14844,0,0,0,25204,0,0,0,8426,0,0,0,12024,0,0,0,9176,0,0,0,64438,0,0,0,5148,0,0,0,22398,0,0]
["RGS11","ENSG00000076344",16,319360,null,"GCCTCCAC","G","gnomAD_Exomes","PASS","NA","p.Trp436HisfsTer48","p.Trp436HisfsTer48","c.1305_1311delGTGGAGG","frameshift_variant","lc_lof",2,230904,8.661608287426811e-06,0,0,0,14460,0,0,0,32334,0,0,0,9454,0,0,0,17280,0,0,0,19280,0,0,0,103562,0,0,0,5640,0,0,2,28894,0,0]
["RGS11","ENSG00000076344",16,324935,"rs1444165587","T","TG","gnomAD_Exomes","PASS","NA","p.Thr39HisfsTer90","p.Thr39HisfsTer90","c.114dupC","frameshift_variant","lc_lof",1,110256,9.06980118995791e-06,0,0,0,6118,0,0,0,13244,0,0,0,5610,0,0,0,8256,0,0,0,12686,0,0,1,43566,0,0,0,2936,0,0,0,17840,0,0]
["RHOT1","ENSG00000126858",17,30506408,"rs1167004236","AAGCACCTCTGCCCGGCCACCCCATCTGGGAAGTGAGGAGCGCCTCTGCCCAGCTGACACCCCATCTGGGATGTGAGG","A","gnomAD_Genomes","NA","PASS","p.Ser134PhefsTer?","p.Ser134PhefsTer?","c.401_477delCCTCACATCCCAGATGGGGTGTCAGCTGGGCAGAGGCGCTCCTCACTTCCCAGATGGGGTGGCCGGGCAGAGGTGCT","frameshift_variant","lc_lof,lof_flag",1,25968,3.85089340727049e-05,0,0,0,7264,0,0,0,732,0,0,0,250,0,0,0,1342,0,0,1,3038,0,0,0,12456,0,0,0,886,0,0,0,0,0,0]
["RHOT1","ENSG00000126858",17,30506602,"rs1274357226","GTC","G","gnomAD_Genomes","NA","PASS","p.Glu94AspfsTer?","p.Glu94AspfsTer?","c.282_283delGA","frameshift_variant","lc_lof,lof_flag",6,26082,0.00023004370830500003,0,0,6,7358,0,0,0,694,0,0,0,246,0,0,0,1336,0,0,0,2860,0,0,0,12702,0,0,0,886,0,0,0,0,0,0]
["RHOT1","ENSG00000126858",17,30551747,"rs769181876","C","T","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Arg691Ter","p.Arg691Ter","c.2071C>T","stop_gained","lc_lof",16,281066,5.6926131228964005e-05,0,0,2,24898,0,0,0,34918,0,0,0,10318,0,0,0,19870,0,0,0,25080,0,0,14,128494,0,0,0,7158,0,0,0,30330,0,0]
["RIPOR1","ENSG00000039523",16,67575779,"rs1423097712","C","T","gnomAD_Exomes","PASS","NA","p.Arg384Ter","p.Arg384Ter","c.1150C>T","stop_gained","lof_flag",2,249538,8.014811371414369e-06,0,0,0,16204,0,0,1,34336,0,0,0,9872,0,0,0,18362,0,0,0,21248,0,0,1,112892,0,0,0,6082,0,0,0,30542,0,0]
["RIPOR1","ENSG00000039523",16,67575814,"rs752327236","G","A","gnomAD_Exomes","PASS","NA","p.Trp395Ter","p.Trp395Ter","c.1185G>A","stop_gained","lof_flag",1,249726,4.00438881013591e-06,0,0,0,16230,0,0,0,34436,0,0,0,9916,0,0,0,18370,0,0,0,20862,0,0,0,113272,0,0,0,6098,0,0,1,30542,0,0]
["RIPOR1","ENSG00000039523",16,67576290,"rs764596604","C","CTTCAGGCCCT","gnomAD_Exomes","PASS","NA","p.Asp555SerfsTer23","p.Asp555SerfsTer23","c.1661_1662insTTCAGGCCCT","frameshift_variant","lof_flag",2,251428,7.954563533098941e-06,0,0,0,16256,0,0,0,34576,0,0,0,10058,0,0,0,18394,0,0,0,21632,0,0,2,113760,0,0,0,6136,0,0,0,30616,0,0]
["RIPOR1","ENSG00000039523",16,67579768,"rs751077330","G","A","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","c.3447+5G>A",null,"c.3447+5G>A","splice_region_variant","lc_lof,os_lof",4,277130,1.4433659293472401e-05,0,0,2,24908,0,0,1,35054,0,0,0,9694,0,0,0,19940,0,0,0,24686,0,0,0,126078,0,0,0,7092,0,0,1,29678,0,0]
["RIPOR1","ENSG00000039523",16,67571500,"rs1028756820","G","A","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Gly7Arg","p.Gly7Arg","c.19G>A","missense_variant","lc_lof,os_lof",53,97764,0.0005421218444420001,0,0,1,9728,0,0,51,12686,0,0,0,5698,0,0,0,3640,0,0,0,7164,0,0,1,41386,0,0,0,3004,0,0,0,14458,0,0]
["RIPOR3","ENSG00000042062",20,49211901,"rs1233660383","CT","C","gnomAD_Genomes","NA","PASS","c.2038+4delA",null,"c.2038+4delA","splice_region_variant","lc_lof,os_lof",1,31400,3.18471337579618e-05,0,0,0,8712,0,0,0,848,0,0,0,290,0,0,1,1560,0,0,0,3476,0,0,0,15428,0,0,0,1086,0,0,0,0,0,0]
["RIPOR3","ENSG00000042062",20,49247270,"rs757247670","C","G","gnomAD_Exomes","PASS","NA","c.110+5G>C",null,"c.110+5G>C","splice_region_variant","lc_lof,os_lof",1,230374,4.34076762134616e-06,0,0,0,14270,0,0,0,33080,0,0,0,9670,0,0,1,17224,0,0,0,19328,0,0,0,102402,0,0,0,5688,0,0,0,28712,0,0]
["RIPOR3","ENSG00000042062",20,49227717,"rs1322437392","C","T","gnomAD_Genomes","NA","PASS","c.360+1G>A",null,"c.360+1G>A","splice_donor_variant","lc_lof",1,31408,3.1839021905247105e-05,0,0,0,8716,0,0,0,848,0,0,0,290,0,0,0,1560,0,0,0,3476,0,0,1,15430,0,0,0,1088,0,0,0,0,0,0]
["RNASE9","ENSG00000188655",14,21026694,"rs1388125570","C","G","gnomAD_Exomes","PASS","NA","c.1+5G>C",null,"c.1+5G>C","splice_region_variant","lc_lof,os_lof",1,153938,6.49612181527628e-06,0,0,1,7924,0,0,0,24690,0,0,0,8490,0,0,0,10900,0,0,0,15276,0,0,0,59550,0,0,0,4334,0,0,0,22774,0,0]
["RNASE9","ENSG00000188655",14,21025015,"rs763655160","C","A","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Glu77Ter","p.Glu77Ter","c.229G>T","stop_gained","lc_lof",47,282780,0.00016620694532900002,1,0,0,24964,0,0,0,35434,0,0,0,10368,0,0,0,19950,0,0,0,25122,0,0,0,129114,0,0,3,7216,0,0,44,30612,1,0]
["RNASE9","ENSG00000188655",14,21024907,"rs753930571","G","A","gnomAD_Exomes","PASS","NA","p.Gln113Ter","p.Gln113Ter","c.337C>T","stop_gained","lc_lof",3,251032,1.19506676439657e-05,0,0,0,16254,0,0,0,34546,0,0,0,10070,0,0,0,18392,0,0,0,21634,0,0,3,113432,0,0,0,6114,0,0,0,30590,0,0]
["RNASE9","ENSG00000188655",14,21024902,"rs760852587","A","T","gnomAD_Exomes","PASS","NA","p.Tyr114Ter","p.Tyr114Ter","c.342T>A","stop_gained","lc_lof",1,251072,3.98292123374968e-06,0,0,0,16254,0,0,0,34552,0,0,0,10074,0,0,0,18386,0,0,0,21634,0,0,0,113464,0,0,0,6116,0,0,1,30592,0,0]
["RNASE9","ENSG00000188655",14,21026810,"rs925752582","C","T","gnomAD_Exomes","PASS","NA","c.-110-1G>A",null,"c.-110-1G>A","splice_acceptor_variant","lc_lof",1,153630,6.50914534921565e-06,0,0,1,7916,0,0,0,24686,0,0,0,8480,0,0,0,10898,0,0,0,15276,0,0,0,59272,0,0,0,4328,0,0,0,22774,0,0]
["RNASE9","ENSG00000188655",14,21024856,"rs1366595341","TCTTA","T","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Cys128Ter","p.Cys128Ter","c.384_387delTAAG","frameshift_variant","lc_lof",4,282116,1.41785648456663e-05,0,0,0,24968,0,0,3,35376,0,0,0,10358,0,0,0,19916,0,0,0,25084,0,0,1,128640,0,0,0,7180,0,0,0,30594,0,0]
["RNASE9","ENSG00000188655",14,21025213,"rs780668192","TGA","T","gnomAD_Exomes","PASS","NA","p.Leu10HisfsTer29","p.Leu10HisfsTer29","c.29_30delTC","frameshift_variant","lc_lof",1,244408,4.09151909921116e-06,0,0,0,16052,0,0,0,32604,0,0,0,9568,0,0,0,17908,0,0,0,21378,0,0,1,111326,0,0,0,5856,0,0,0,29716,0,0]
["RNF145","ENSG00000145860",5,158585798,"rs140764052","T","TTCCTGTA","gnomAD_Exomes","PASS","NA","p.Glu654AspfsTer9","p.Glu654AspfsTer9","c.1955_1961dupTACAGGA","frameshift_variant","segdup,lc_lof",1,251180,3.98120869495979e-06,0,0,0,16256,0,0,1,34592,0,0,0,10080,0,0,0,18394,0,0,0,21648,0,0,0,113464,0,0,0,6130,0,0,0,30616,0,0]
["RNF145","ENSG00000145860",5,158634760,"rs1486523002","T","G","gnomAD_Exomes","PASS","NA","c.45+3A>C",null,"c.45+3A>C","splice_region_variant","lc_lof,os_lof",1,251496,3.976206381016e-06,0,0,1,16256,0,0,0,34592,0,0,0,10080,0,0,0,18394,0,0,0,21648,0,0,0,113770,0,0,0,6140,0,0,0,30616,0,0]
["RPL17","ENSG00000265681",18,47014894,"rs748807979","C","A","gnomAD_Exomes","PASS","NA","p.Glu184Ter","p.Glu184Ter","c.550G>T","stop_gained","segdup,lc_lof",5,248932,2.0085806565648402e-05,0,0,0,15458,0,0,0,34352,0,0,0,10070,0,0,0,17956,0,0,0,21558,0,0,0,113074,0,0,0,6046,0,0,5,30418,0,0]
["RPL17-C18orf32","ENSG00000215472",18,47014894,"rs748807979","C","A","gnomAD_Exomes","PASS","NA","p.Glu184Ter","p.Glu184Ter","c.550G>T","stop_gained","segdup,lc_lof",5,248932,2.0085806565648402e-05,0,0,0,15458,0,0,0,34352,0,0,0,10070,0,0,0,17956,0,0,0,21558,0,0,0,113074,0,0,0,6046,0,0,5,30418,0,0]
["RPL17-C18orf32","ENSG00000215472",18,47008786,"rs765733020","A","AGTTTACTTTGCCTTTGTTTGTATCATTGGATTCTTGTATTGCT","gnomAD_Exomes","PASS","NA","c.166-7_166-6insAGCAATACAAGAATCCAATGATACAAACAAAGGCAAAGTAAAC",null,"c.166-7_166-6insAGCAATACAAGAATCCAATGATACAAACAAAGGCAAAGTAAAC","splice_region_variant","lc_lof,os_lof",2,247910,8.06744383042233e-06,0,0,0,16062,0,0,1,33698,0,0,0,10004,0,0,0,18156,0,0,0,21554,0,0,1,112708,0,0,0,6066,0,0,0,29662,0,0]
["RPL17-C18orf32","ENSG00000215472",18,47008781,"rs754220775","C","CT","gnomAD_Exomes","PASS","NA","c.166-2dupA",null,"c.166-2dupA","splice_acceptor_variant","lc_lof",4,248204,1.61157757328649e-05,0,0,0,16080,0,0,0,33760,0,0,0,10020,0,0,0,18164,0,0,0,21568,0,0,3,112804,0,0,1,6082,0,0,0,29726,0,0]
["RPL19","ENSG00000108298",17,37360870,"rs770476416","CTT","C","gnomAD_Exomes","PASS","NA","p.Leu188IlefsTer30","p.Leu188IlefsTer30","c.562_563delTT","frameshift_variant","segdup,lc_lof",2,249420,8.01860315932965e-06,0,0,0,15470,0,0,0,34528,0,0,0,10064,0,0,0,17978,0,0,0,21560,0,0,2,113160,0,0,0,6058,0,0,0,30602,0,0]
["RPL7","ENSG00000147604",8,74203277,"rs1167893482","C","T","gnomAD_Exomes","PASS","NA","c.*1+1G>A",null,"c.*1+1G>A","splice_donor_variant","segdup,lc_lof",1,250504,3.99195222431578e-06,0,0,0,15930,0,0,1,34566,0,0,0,10074,0,0,0,18394,0,0,0,21630,0,0,0,113230,0,0,0,6086,0,0,0,30594,0,0]
["SAMD3","ENSG00000164483",6,130530693,"rs1276443303","A","T","gnomAD_Exomes","PASS","NA","p.Tyr110Ter","p.Tyr110Ter","c.330T>A","stop_gained","lof_flag",1,251096,3.98254054226272e-06,0,0,0,16256,0,0,0,34546,0,0,0,10072,0,0,1,18382,0,0,0,21648,0,0,0,113456,0,0,0,6126,0,0,0,30610,0,0]
["SAMD3","ENSG00000164483",6,130530734,"rs1477917946","AG","A","gnomAD_Exomes","PASS","NA","p.Ser97ProfsTer23","p.Ser97ProfsTer23","c.288delC","frameshift_variant","lof_flag",2,250856,7.97270147016615e-06,0,0,0,16250,0,0,0,34518,0,0,0,10062,0,0,0,18378,0,0,0,21634,0,0,2,113298,0,0,0,6120,0,0,0,30596,0,0]
["SAMD3","ENSG00000164483",6,130530712,"rs1273639043","TC","T","gnomAD_Exomes","PASS","NA","p.Glu104SerfsTer16","p.Glu104SerfsTer16","c.310delG","frameshift_variant","lof_flag",1,251020,3.98374631503466e-06,0,0,0,16256,0,0,0,34534,0,0,0,10066,0,0,0,18384,0,0,0,21644,0,0,0,113408,0,0,0,6128,0,0,1,30600,0,0]
["SAMD3","ENSG00000164483",6,130496981,"rs748613644","C","A","gnomAD_Exomes","PASS","NA","c.822+5G>T",null,"c.822+5G>T","splice_region_variant","lc_lof,os_lof",1,247898,4.0339171756125494e-06,0,0,0,16160,0,0,0,33834,0,0,0,9868,0,0,0,18212,0,0,0,21476,0,0,0,112492,0,0,0,6024,0,0,1,29832,0,0]
["SAMD3","ENSG00000164483",6,130530754,"rs1466722149","C","T","gnomAD_Exomes","PASS","NA","c.270-1G>A",null,"c.270-1G>A","splice_acceptor_variant","lc_lof",1,249886,4.00182483212345e-06,0,0,0,16240,0,0,0,34280,0,0,0,10006,0,0,0,18330,0,0,1,21598,0,0,0,112880,0,0,0,6084,0,0,0,30468,0,0]
["SAMD3","ENSG00000164483",6,130465719,"rs756586343","AAAAT","A","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Tyr502PhefsTer4","p.Tyr502PhefsTer4","c.1505_1508delATTT","frameshift_variant","lc_lof",14,282376,4.957928435844411e-05,0,0,0,24972,0,0,0,35384,0,0,0,10346,0,0,0,19858,0,0,0,25116,0,0,5,128896,0,0,0,7212,0,0,9,30592,0,0]
["SCAMP4","ENSG00000227500",19,1924104,"rs376784910","C","G","gnomAD_Exomes","PASS","NA","c.514-3C>G",null,"c.514-3C>G","splice_region_variant","lc_lof,os_lof",1,234078,4.27208024675536e-06,0,0,0,14102,0,0,0,33064,0,0,0,9740,0,0,0,17160,0,0,0,20550,0,0,1,104838,0,0,0,5734,0,0,0,28890,0,0]
["SCAMP4","ENSG00000227500",19,1913119,"rs1407181468","A","AGCAGT","gnomAD_Exomes","PASS","NA","p.Arg361SerfsTer?","p.Arg361SerfsTer?","c.1076_1080dupAGTGC","frameshift_variant","lc_lof",2,197606,1.0121150167505001e-05,0,0,0,10936,0,0,0,30124,0,0,0,9002,0,0,0,14764,0,0,0,11866,0,0,2,88328,0,0,0,5138,0,0,0,27448,0,0]
["SCNM1","ENSG00000163156",1,151140810,"rs765316975","C","T","gnomAD_Exomes","PASS","NA","p.Arg197Ter","p.Arg197Ter","c.589C>T","stop_gained","lof_flag",8,244022,3.2783929317848404e-05,0,0,0,16060,0,0,0,32738,0,0,0,9626,0,0,0,17914,0,0,0,21434,0,0,6,110906,0,0,0,5916,0,0,2,29428,0,0]
["SCNM1","ENSG00000163156",1,151140744,"rs1374688067","AC","A","gnomAD_Exomes","PASS","NA","p.Thr175MetfsTer8","p.Thr175MetfsTer8","c.524delC","frameshift_variant","lof_flag",2,251470,7.95323497832744e-06,0,0,0,16256,0,0,2,34590,0,0,0,10080,0,0,0,18392,0,0,0,21644,0,0,0,113756,0,0,0,6136,0,0,0,30616,0,0]
["SCNM1","ENSG00000163156",1,151140631,"rs1199481582","CT","C","gnomAD_Exomes","PASS","NA","p.Gly138ValfsTer45","p.Gly138ValfsTer45","c.411delT","frameshift_variant","lof_flag",1,249826,4.00278593901355e-06,0,0,0,16224,0,0,0,34274,0,0,0,9934,0,0,0,18358,0,0,0,21584,0,0,0,112928,0,0,0,6086,0,0,1,30438,0,0]
["SCNM1","ENSG00000163156",1,151140777,"rs747524906","AG","A","gnomAD_Exomes","PASS","NA","p.Arg186LysfsTer25","p.Arg186LysfsTer25","c.557delG","frameshift_variant","lof_flag",1,250860,3.98628717212788e-06,0,0,0,16240,0,0,1,34460,0,0,0,10060,0,0,0,18328,0,0,0,21622,0,0,0,113494,0,0,0,6116,0,0,0,30540,0,0]
["SEC14L1","ENSG00000129657",17,75208187,"rs139177480","G","T","gnomAD_Exomes","PASS","NA","c.334+5G>T",null,"c.334+5G>T","splice_region_variant","segdup,lc_lof,os_lof",1,251472,3.97658586244194e-06,0,0,0,16252,0,0,0,34590,0,0,0,10080,0,0,0,18394,0,0,0,21648,0,0,1,113754,0,0,0,6138,0,0,0,30616,0,0]
["SEC14L1","ENSG00000129657",17,75212075,"rs62649954","AGTAGGTAGGGTTCGTAGGTAGGGTTCGTAGGTAGGGCTAGTAGGTAGGGTTAGTAGGTAGGGCTAGTAGGTAGGGCTAGTAGGTAGGGTTAGTAGGTAGGGCTAGTAGGTAGGGTTCGTAGGTAGGGTTAGTAGGTAGGGCTAGTAG","A","gnomAD_Genomes","NA","PASS","c.*1913-25_*2034delTAGGGTTCGTAGGTAGGGTTCGTAGGTAGGGCTAGTAGGTAGGGTTAGTAGGTAGGGCTAGTAGGTAGGGCTAGTAGGTAGGGTTAGTAGGTAGGGCTAGTAGGTAGGGTTCGTAGGTAGGGTTAGTAGGTAGGGCTAGTAGGTAGG",null,"c.*1913-25_*2034delTAGGGTTCGTAGGTAGGGTTCGTAGGTAGGGCTAGTAGGTAGGGTTAGTAGGTAGGGCTAGTAGGTAGGGCTAGTAGGTAGGGTTAGTAGGTAGGGCTAGTAGGTAGGGTTCGTAGGTAGGGTTAGTAGGTAGGGCTAGTAGGTAGG","splice_acceptor_variant","lcr,lc_lof",4,16034,0.000249469876512,1,0,4,5016,1,0,0,390,0,0,0,166,0,0,0,798,0,0,0,2098,0,0,0,7038,0,0,0,528,0,0,0,0,0,0]
["SEC14L1","ENSG00000129657",17,75189636,"rs750968126","G","A","gnomAD_Exomes","PASS","NA","c.474+5G>A",null,"c.474+5G>A","splice_region_variant","lc_lof,os_lof",1,247984,4.0325182269823894e-06,0,0,0,15724,0,0,0,33594,0,0,0,10026,0,0,0,18322,0,0,0,21596,0,0,1,112870,0,0,0,5982,0,0,0,29870,0,0]
["SEC14L1","ENSG00000129657",17,75089430,"rs930330115","G","A","gnomAD_Genomes","NA","PASS","c.-136+1G>A",null,"c.-136+1G>A","splice_donor_variant","lc_lof",1,31390,3.18572793883402e-05,0,0,1,8714,0,0,0,848,0,0,0,290,0,0,0,1558,0,0,0,3472,0,0,0,15424,0,0,0,1084,0,0,0,0,0,0]
["SEC14L1","ENSG00000129657",17,75191058,"rs773619752","CTGTT","C","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Leu145SerfsTer?","p.Leu145SerfsTer?","c.432_435delTTTG","frameshift_variant","lc_lof",13,223760,5.809796210225241e-05,0,0,0,20938,0,0,2,27076,0,0,0,7246,0,0,0,17448,0,0,0,21316,0,0,11,99658,0,0,0,5752,0,0,0,24326,0,0]
["SELPLG","ENSG00000110876",12,109017674,"rs201851784","ACTGGTTGAGTGGTCTGTGCCTCCG","A","gnomAD_Exomes","PASS","NA","c.391-12_386delCGGAGGCACAGACCACTCAACCAG",null,"c.391-12_386delCGGAGGCACAGACCACTCAACCAG","splice_donor_variant","lof_flag",2,248680,8.042464211034259e-06,0,0,0,15986,0,0,0,34394,0,0,0,10014,0,0,2,18200,0,0,0,21296,0,0,0,112344,0,0,0,6054,0,0,0,30392,0,0]
["SELPLG","ENSG00000110876",12,109017650,"rs63748999","GGAGTGGTCTGTGCCTCCGTGGGCACTGGTT","G","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","c.403_390+14delAACCAGTGCCCACGGAGGCACAGACCACTC",null,"c.403_390+14delAACCAGTGCCCACGGAGGCACAGACCACTC","splice_acceptor_variant","lof_flag",49326,280658,0.17575127022924703,4542,0,2814,24726,148,0,3700,35274,178,0,901,10324,42,0,7065,19752,1178,0,4575,24874,389,0,22233,128142,1705,0,1187,7156,101,0,6851,30410,801,0]
["SELPLG","ENSG00000110876",12,109017510,"rs766230490","G","A","gnomAD_Exomes","PASS","NA","p.Gln208Ter","p.Gln208Ter","c.622C>T","stop_gained","lc_lof",1,251386,3.9779462659018394e-06,0,0,0,16254,0,0,0,34592,0,0,0,10076,0,0,0,18392,0,0,0,21642,0,0,1,113682,0,0,0,6136,0,0,0,30612,0,0]
["SELPLG","ENSG00000110876",12,109017404,"rs1302320243","G","GC","gnomAD_Exomes","PASS","NA","p.Thr243SerfsTer130","p.Thr243SerfsTer130","c.727_728insG","frameshift_variant","lc_lof",1,251446,3.9769970490681895e-06,0,0,1,16256,0,0,0,34592,0,0,0,10078,0,0,0,18394,0,0,0,21648,0,0,0,113722,0,0,0,6140,0,0,0,30616,0,0]
["SELPLG","ENSG00000110876",12,109017699,"rs1201491657","TG","T","gnomAD_Exomes","PASS","NA","p.Thr145ArgfsTer28","p.Thr145ArgfsTer28","c.432delC","frameshift_variant","lc_lof",1,251460,3.97677563031894e-06,0,0,0,16256,0,0,0,34592,0,0,0,10080,0,0,0,18394,0,0,0,21648,0,0,1,113738,0,0,0,6138,0,0,0,30614,0,0]
["SENP7","ENSG00000138468",3,101136588,"rs755371036","G","A","gnomAD_Exomes","PASS","NA","p.Arg111Ter","p.Arg111Ter","c.331C>T","stop_gained","lof_flag",1,249438,4.00901225955949e-06,0,0,0,15482,0,0,0,34526,0,0,0,10068,0,0,0,17978,0,0,0,21558,0,0,1,113174,0,0,0,6058,0,0,0,30594,0,0]
["SENP7","ENSG00000138468",3,101086736,"rs1310529685","GCC","G","gnomAD_Exomes","PASS","NA","p.Arg305ThrfsTer2","p.Arg305ThrfsTer2","c.914_915delGG","frameshift_variant","lof_flag",1,250602,3.99039113813936e-06,0,0,0,16206,0,0,0,34472,0,0,0,10072,0,0,0,18374,0,0,1,21576,0,0,0,113238,0,0,0,6100,0,0,0,30564,0,0]
["SENP7","ENSG00000138468",3,101066711,"rs1288252320","C","G","gnomAD_Genomes","NA","PASS","c.1837+5G>C",null,"c.1837+5G>C","splice_region_variant","lc_lof,os_lof",1,31358,3.18897888895976e-05,0,0,0,8714,0,0,0,842,0,0,0,290,0,0,0,1560,0,0,0,3456,0,0,1,15408,0,0,0,1088,0,0,0,0,0,0]
["SENP7","ENSG00000138468",3,101085271,"rs779396380","T","TA","gnomAD_Exomes","PASS","NA","c.1318+2dupT",null,"c.1318+2dupT","splice_region_variant","lc_lof,os_lof",1,220776,4.5294778417944e-06,0,0,1,15698,0,0,0,25906,0,0,0,7842,0,0,0,17020,0,0,0,20256,0,0,0,104560,0,0,0,5248,0,0,0,24246,0,0]
["SERF2","ENSG00000140264",15,44086145,"rs766549249","TC","T","gnomAD_Exomes","PASS","NA","p.Leu165TrpfsTer33","p.Leu165TrpfsTer33","c.493delC","frameshift_variant","segdup,lc_lof",1,157322,6.35639007894636e-06,0,0,0,8050,0,0,0,24796,0,0,0,8370,0,0,1,11532,0,0,0,15040,0,0,0,61458,0,0,0,4500,0,0,0,23576,0,0]
["SERF2","ENSG00000140264",15,44093963,"rs1177949596","A","AT","gnomAD_Exomes","PASS","NA","p.Met117IlefsTer61","p.Met117IlefsTer61","c.350dupT","frameshift_variant","segdup,lc_lof",1,251492,3.9762696228905896e-06,0,0,0,16256,0,0,0,34592,0,0,0,10080,0,0,0,18394,0,0,0,21648,0,0,1,113766,0,0,0,6140,0,0,0,30616,0,0]
["SERF2","ENSG00000140264",15,44092133,"rs768992960","G","A","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Gln18Ter","p.Gln18Ter","c.52C>T","stop_gained","lof_flag",2,181738,1.1004853140234802e-05,0,0,1,15466,0,0,0,25168,0,0,0,8600,0,0,0,12274,0,0,0,20148,0,0,1,72290,0,0,0,5380,0,0,0,22412,0,0]
["SERF2","ENSG00000140264",15,44087588,"rs966608903","G","C","gnomAD_Exomes","PASS","NA","p.Ser373Ter","p.Ser373Ter","c.1118C>G","stop_gained","lof_flag",1,251416,3.97747160085277e-06,0,0,0,16254,0,0,1,34592,0,0,0,10078,0,0,0,18394,0,0,0,21634,0,0,0,113712,0,0,0,6136,0,0,0,30616,0,0]
["SERF2","ENSG00000140264",15,44087935,"rs199617532","C","T","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","c.1141-1G>A",null,"c.1141-1G>A","splice_acceptor_variant","lof_flag",43,282356,0.00015229001685800002,0,0,1,24952,0,0,0,35344,0,0,1,10350,0,0,35,19948,0,0,0,25034,0,0,6,128932,0,0,0,7216,0,0,0,30580,0,0]
["SERF2","ENSG00000140264",15,44092096,"rs1355708739","C","CTT","gnomAD_Genomes","NA","PASS","p.Ser30LysfsTer55","p.Ser30LysfsTer55","c.87_88dupAA","frameshift_variant","lof_flag",1,31398,3.18491623670297e-05,0,0,1,8714,0,0,0,848,0,0,0,290,0,0,0,1560,0,0,0,3476,0,0,0,15422,0,0,0,1088,0,0,0,0,0,0]
["SERF2","ENSG00000140264",15,44088835,"rs748620666","TA","T","gnomAD_Exomes","PASS","NA","p.Tyr349MetfsTer153","p.Tyr349MetfsTer153","c.1045delT","frameshift_variant","lof_flag",1,251452,3.97690215229944e-06,0,0,0,16256,0,0,0,34592,0,0,0,10078,0,0,0,18394,0,0,0,21644,0,0,1,113736,0,0,0,6136,0,0,0,30616,0,0]
["SERF2","ENSG00000140264",15,44088867,"rs762649457","GAT","G","gnomAD_Exomes","PASS","NA","p.Ile338LeufsTer8","p.Ile338LeufsTer8","c.1012_1013delAT","frameshift_variant","lof_flag",1,251488,3.97633286677694e-06,0,0,0,16256,0,0,0,34592,0,0,0,10080,0,0,0,18394,0,0,1,21646,0,0,0,113764,0,0,0,6140,0,0,0,30616,0,0]
["SERF2","ENSG00000140264",15,44090670,"rs752984294","C","CCTAACAGGAACAG","gnomAD_Exomes","PASS","NA","p.Gly164AlafsTer15","p.Gly164AlafsTer15","c.478_490dupCTGTTCCTGTTAG","frameshift_variant","lof_flag",1,251482,3.97642773637875e-06,0,0,0,16256,0,0,0,34592,0,0,0,10078,0,0,0,18394,0,0,0,21648,0,0,0,113758,0,0,0,6140,0,0,1,30616,0,0]
["SERF2","ENSG00000140264",15,44075206,"rs1224052923","C","CTT","gnomAD_Genomes","NA","PASS","p.Ser9LysfsTer?","p.Ser9LysfsTer?","c.24_25dupAA","frameshift_variant","lcr,lc_lof,lof_flag",161,14988,0.010741926874833,5,0,141,4068,4,0,1,264,0,0,1,172,0,0,11,906,1,0,0,478,0,0,3,8666,0,0,4,434,0,0,0,0,0,0]
["SERF2","ENSG00000140264",15,44091814,"rs1202701203","C","G","gnomAD_Exomes","PASS","NA","c.75-3C>G",null,"c.75-3C>G","splice_region_variant","lc_lof,os_lof",7,150820,4.6412942580559607e-05,0,0,0,6902,0,0,0,24584,0,0,0,8396,0,0,0,10782,0,0,0,16940,0,0,0,56298,0,0,1,4382,0,0,6,22536,0,0]
["SERF2","ENSG00000140264",15,44087944,"rs1353399287","A","T","gnomAD_Exomes","PASS","NA","c.1141-10T>A",null,"c.1141-10T>A","intron_variant","lc_lof,os_lof",1,250012,3.99980800921556e-06,0,0,0,16214,0,0,1,34264,0,0,0,10012,0,0,0,18358,0,0,0,21490,0,0,0,113154,0,0,0,6114,0,0,0,30406,0,0]
["SERF2","ENSG00000140264",15,44087323,"rs370605763","G","C","gnomAD_Exomes","PASS","NA","p.Tyr403Ter","p.Tyr403Ter","c.1209C>G","stop_gained","lc_lof",2,251288,7.95899525643883e-06,0,0,0,16256,0,0,0,34592,0,0,0,10078,0,0,0,18394,0,0,0,21646,0,0,1,113570,0,0,1,6138,0,0,0,30614,0,0]
["SERF2","ENSG00000140264",15,44087308,"rs752235354","G","GC","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Leu483AlafsTer31","p.Leu483AlafsTer31","c.1446dupG","frameshift_variant","lc_lof",2,282604,7.077040664675659e-06,0,0,0,24954,0,0,2,35440,0,0,0,10368,0,0,0,19954,0,0,0,25122,0,0,0,128924,0,0,0,7226,0,0,0,30616,0,0]
["SERF2","ENSG00000140264",15,44087278,"rs1261606291","T","TG","gnomAD_Exomes","PASS","NA","p.Thr493HisfsTer21","p.Thr493HisfsTer21","c.1476dupC","frameshift_variant","lc_lof",1,250762,3.9878450482928e-06,0,0,0,16166,0,0,0,34582,0,0,0,10070,0,0,0,18374,0,0,0,21630,0,0,1,113196,0,0,0,6128,0,0,0,30616,0,0]
["SFR1","ENSG00000156384",10,105881951,"rs866494040","G","T","gnomAD_Exomes","PASS","NA","p.Gly4Ter","p.Gly4Ter","c.10G>T","stop_gained","segdup,lof_flag",2,151412,1.32089926822181e-05,0,0,0,7850,0,0,0,24356,0,0,0,8218,0,0,2,10694,0,0,0,15244,0,0,0,58128,0,0,0,4218,0,0,0,22704,0,0]
["SFR1","ENSG00000156384",10,105883534,"rs759402252","C","A","gnomAD_Exomes","PASS","NA","p.Tyr66Ter","p.Tyr66Ter","c.198C>A","stop_gained","segdup,lof_flag",1,248496,4.02420964522568e-06,0,0,0,16100,0,0,0,34026,0,0,0,9974,0,0,0,18304,0,0,0,21598,0,0,1,112658,0,0,0,6040,0,0,0,29796,0,0]
["SFR1","ENSG00000156384",10,105883634,"rs746642170","G","T","gnomAD_Exomes","PASS","NA","p.Glu100Ter","p.Glu100Ter","c.298G>T","stop_gained","segdup,lof_flag",1,249942,4.000928215345959e-06,0,0,0,15732,0,0,0,34416,0,0,0,10056,0,0,0,18366,0,0,0,21640,0,0,1,113216,0,0,0,6076,0,0,0,30440,0,0]
["SFR1","ENSG00000156384",10,105882776,"rs747303558","G","GT","gnomAD_Exomes","PASS","NA","p.Leu24PhefsTer3","p.Leu24PhefsTer3","c.71dupT","frameshift_variant","segdup,lof_flag",4,251092,1.59304159431603e-05,0,0,0,16238,0,0,0,34490,0,0,0,10068,0,0,0,18380,0,0,0,21630,0,0,3,113574,0,0,1,6122,0,0,0,30590,0,0]
["SFR1","ENSG00000156384",10,105883779,"rs1261840951","CTAAACAAAGATTA","C","gnomAD_Exomes","PASS","NA","p.Lys149ThrfsTer8","p.Lys149ThrfsTer8","c.444_456delTAAACAAAGATTA","frameshift_variant","segdup,lof_flag",2,251116,7.96444670988707e-06,0,0,0,16118,0,0,0,34566,0,0,2,10074,0,0,0,18390,0,0,0,21646,0,0,0,113608,0,0,0,6112,0,0,0,30602,0,0]
["SFR1","ENSG00000156384",10,105881957,"rs1474687422","A","T","gnomAD_Exomes","PASS","NA","c.13+3A>T",null,"c.13+3A>T","splice_region_variant","segdup,lc_lof,os_lof",1,148904,6.71573631332939e-06,0,0,0,7526,0,0,0,24144,0,0,0,8122,0,0,1,10342,0,0,0,15174,0,0,0,56884,0,0,0,4114,0,0,0,22598,0,0]
["SFR1","ENSG00000156384",10,105882658,"rs757222188","T","G","gnomAD_Exomes","PASS","NA","p.Tyr45Ter","p.Tyr45Ter","c.135T>G","stop_gained","lof_flag",2,225916,8.852847961189109e-06,0,0,0,13280,0,0,1,33636,0,0,0,9738,0,0,0,16846,0,0,0,15132,0,0,0,101966,0,0,1,5748,0,0,0,29570,0,0]
["SFR1","ENSG00000156384",10,105882648,"rs778263413","CAATAT","C","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Ile43LeufsTer8","p.Ile43LeufsTer8","c.127_131delATATA","frameshift_variant","lof_flag",16,246980,6.478257348773181e-05,0,0,1,21276,0,0,4,33610,0,0,0,9882,0,0,1,17570,0,0,0,17140,0,0,6,111892,0,0,1,6694,0,0,3,28916,0,0]
["SFR1","ENSG00000156384",10,105882621,"rs750848904","T","TAA","gnomAD_Genomes","NA","PASS","p.Leu34AsnfsTer14","p.Leu34AsnfsTer14","c.99_100insAA","frameshift_variant","lof_flag",2,31408,6.367804381049411e-05,0,0,2,8712,0,0,0,848,0,0,0,290,0,0,0,1560,0,0,0,3476,0,0,0,15434,0,0,0,1088,0,0,0,0,0,0]
["SHMT2","ENSG00000182199",12,57625517,"rs754006426","G","A","gnomAD_Exomes","PASS","NA","p.Trp6Ter","p.Trp6Ter","c.17G>A","stop_gained","lof_flag",1,251370,3.97819946692127e-06,0,0,0,16246,0,0,0,34592,0,0,0,10078,0,0,0,18386,0,0,0,21578,0,0,0,113736,0,0,0,6138,0,0,1,30616,0,0]
["SHMT2","ENSG00000182199",12,57627896,"rs759068953","G","T","gnomAD_Exomes","PASS","NA","p.Glu264Ter","p.Glu264Ter","c.788G>T","stop_gained","lc_lof",2,251418,7.95487992108759e-06,0,0,0,16254,0,0,2,34586,0,0,0,10076,0,0,0,18394,0,0,0,21636,0,0,0,113724,0,0,0,6132,0,0,0,30616,0,0]
["SNAP47","ENSG00000143740",1,227923153,"rs746526976","CG","C","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Pro16ArgfsTer31","p.Pro16ArgfsTer31","c.45delG","frameshift_variant","lof_flag",3,102502,2.92677216054321e-05,0,0,1,12250,0,0,0,10490,0,0,0,1578,0,0,0,8124,0,0,0,6214,0,0,2,53434,0,0,0,2802,0,0,0,7610,0,0]
["SNAP47","ENSG00000143740",1,227963568,"rs746469412","C","CA","gnomAD_Exomes","PASS","NA","p.Arg444GlufsTer?","p.Arg444GlufsTer?","c.1328dupA","frameshift_variant","lc_lof",5,149212,3.3509369219633803e-05,0,0,0,6758,0,0,0,24578,0,0,0,8380,0,0,0,10780,0,0,0,16804,0,0,0,55060,0,0,0,4316,0,0,5,22536,0,0]
["SNRNP35","ENSG00000184209",12,123950760,"rs1240181987","TGGGAG","T","gnomAD_Exomes","PASS","NA","p.Trp230Ter","p.Trp230Ter","c.689_693delGGGAG","frameshift_variant","lc_lof",1,207856,4.811023015934109e-06,0,0,0,15604,0,0,1,25972,0,0,0,6464,0,0,0,16620,0,0,0,19216,0,0,0,98000,0,0,0,4860,0,0,0,21120,0,0]
["SNRPD2","ENSG00000125743",19,46192490,"rs1356380927","C","G","gnomAD_Exomes","PASS","NA","c.-29+1G>C",null,"c.-29+1G>C","splice_donor_variant","lc_lof",1,234668,4.26133942420782e-06,0,0,0,15166,0,0,0,34424,0,0,0,9972,0,0,0,17700,0,0,0,11672,0,0,0,109260,0,0,0,5920,0,0,1,30554,0,0]
["SP4","ENSG00000105866","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","NA"]
["SP8","ENSG00000164651",7,20826392,"rs1222730419","C","T","gnomAD_Exomes","PASS","NA","c.21+5G>A",null,"c.21+5G>A","splice_region_variant","lc_lof,os_lof",1,249462,4.00862656436652e-06,0,0,0,15482,0,0,1,34528,0,0,0,10068,0,0,0,17976,0,0,0,21562,0,0,0,113192,0,0,0,6052,0,0,0,30602,0,0]
["SPATA33","ENSG00000167523",16,89724278,"rs1389424398","TG","T","gnomAD_Genomes","NA","PASS","p.Thr3ProfsTer108","p.Thr3ProfsTer108","c.4delG","frameshift_variant","lof_flag",1,30954,3.2306002455256205e-05,0,0,0,8570,0,0,0,838,0,0,0,284,0,0,0,1550,0,0,0,3430,0,0,1,15206,0,0,0,1076,0,0,0,0,0,0]
["SPATA33","ENSG00000167523",16,89735759,"rs776630264","C","T","gnomAD_Exomes","PASS","NA","p.Arg92Ter","p.Arg92Ter","c.274C>T","stop_gained","lc_lof",7,251490,2.7834108712076005e-05,0,0,0,16254,0,0,1,34592,0,0,0,10080,0,0,0,18394,0,0,0,21646,0,0,3,113768,0,0,0,6140,0,0,3,30616,0,0]
["SPATA33","ENSG00000167523",16,89735726,"rs777496179","A","T","gnomAD_Exomes","PASS","NA","p.Lys81Ter","p.Lys81Ter","c.241A>T","stop_gained","lc_lof",1,251492,3.9762696228905896e-06,0,0,0,16254,0,0,0,34590,0,0,0,10080,0,0,0,18394,0,0,0,21648,0,0,0,113770,0,0,0,6140,0,0,1,30616,0,0]
["SPATA33","ENSG00000167523",16,89735711,"rs764415659","CA","C","gnomAD_Exomes","PASS","NA","p.Lys77SerfsTer22","p.Lys77SerfsTer22","c.230delA","frameshift_variant","lc_lof",5,251480,1.9882296802926702e-05,0,0,0,16254,0,0,1,34590,0,0,0,10080,0,0,3,18394,0,0,0,21648,0,0,0,113762,0,0,1,6136,0,0,0,30616,0,0]
["SPATS2L","ENSG00000196141",2,201257973,"rs542845514","AT","A","gnomAD_Exomes","PASS","NA","p.Met1?","p.Met1?","c.2delT","frameshift_variant","lof_flag",1,137636,7.2655409921822796e-06,0,0,0,6604,0,0,1,24480,0,0,0,8310,0,0,0,10512,0,0,0,6986,0,0,0,54036,0,0,0,4218,0,0,0,22490,0,0]
["SPATS2L","ENSG00000196141",2,201171016,"rs368941385","G","A","gnomAD_Genomes","NA","PASS","c.-192+1G>A",null,"c.-192+1G>A","splice_donor_variant","lc_lof",6,31398,0.00019109497420200002,0,0,5,8710,0,0,0,848,0,0,0,290,0,0,0,1558,0,0,0,3476,0,0,0,15428,0,0,1,1088,0,0,0,0,0,0]
["SPATS2L","ENSG00000196141",2,201342727,"rs376932335","AG","A","gnomAD_Exomes","PASS","NA","p.Val551SerfsTer4","p.Val551SerfsTer4","c.1651delG","frameshift_variant","lc_lof",1,224696,4.45045750703172e-06,0,0,0,14176,0,0,0,30074,0,0,0,8352,0,0,1,16802,0,0,0,20826,0,0,0,103110,0,0,0,5430,0,0,0,25926,0,0]
["SSX2IP","ENSG00000117155",1,85121690,"rs762918165","T","C","gnomAD_Exomes","PASS","NA","c.1216-2A>G",null,"c.1216-2A>G","splice_acceptor_variant","lof_flag",6,243330,2.4657872025644204e-05,0,0,1,15802,0,0,0,33070,0,0,0,9698,0,0,0,18034,0,0,0,20442,0,0,5,110512,0,0,0,5860,0,0,0,29912,0,0]
["SSX2IP","ENSG00000117155",1,85127878,"rs1206511129","T","TA","gnomAD_Genomes","NA","PASS","c.927+2dupT",null,"c.927+2dupT","splice_region_variant","lc_lof,os_lof",1,31400,3.18471337579618e-05,0,0,0,8716,0,0,0,848,0,0,0,290,0,0,0,1560,0,0,0,3474,0,0,1,15426,0,0,0,1086,0,0,0,0,0,0]
["STK31","ENSG00000196335",7,23794054,"rs1218940582","C","G","gnomAD_Exomes","PASS","NA","p.Tyr418Ter","p.Tyr418Ter","c.1254C>G","stop_gained","lof_flag",1,250762,3.9878450482928e-06,0,0,0,16244,0,0,0,34322,0,0,0,10068,0,0,0,18370,0,0,0,21638,0,0,1,113586,0,0,0,6122,0,0,0,30412,0,0]
["STK31","ENSG00000196335",7,23751708,"rs1435407047","ATTG","A","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","c.51-7_51-5delGTT",null,"c.51-7_51-5delGTT","splice_region_variant","lc_lof,os_lof",20,281060,7.115918309257811e-05,0,0,3,24852,0,0,2,35192,0,0,0,10318,0,0,0,19888,0,0,0,25044,0,0,15,128186,0,0,0,7174,0,0,0,30406,0,0]
["STK31","ENSG00000196335",7,23854760,"rs375692337","C","G","gnomAD_Genomes","NA","PASS","c.2761-3C>G",null,"c.2761-3C>G","splice_region_variant","lc_lof,os_lof",1,31386,3.1861339450710506e-05,0,0,0,8712,0,0,0,848,0,0,0,290,0,0,0,1560,0,0,0,3474,0,0,1,15418,0,0,0,1084,0,0,0,0,0,0]
["STK31","ENSG00000196335",7,23871875,"rs763457395","G","T","gnomAD_Exomes","PASS","NA","p.Glu984Ter","p.Glu984Ter","c.2950G>T","stop_gained","lc_lof",1,251208,3.9807649437916e-06,0,0,0,16218,0,0,0,34582,0,0,0,10070,0,0,1,18388,0,0,0,21638,0,0,0,113592,0,0,0,6118,0,0,0,30602,0,0]
["STRBP","ENSG00000165209",9,125910052,"rs762219109","CA","C","gnomAD_Exomes","PASS","NA","c.1138+4delT",null,"c.1138+4delT","splice_region_variant","lc_lof,os_lof",1,239464,4.17599305114756e-06,0,0,0,15384,0,0,0,33584,0,0,0,9752,0,0,0,17770,0,0,0,21080,0,0,0,106798,0,0,0,5910,0,0,1,29186,0,0]
["SUGP2","ENSG00000064607",19,19136772,"rs775651192","C","T","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Trp30Ter","p.Trp30Ter","c.90G>A","stop_gained","lof_flag",3,282862,1.06058784849149e-05,0,0,0,24968,0,0,0,35436,0,0,0,10370,0,0,0,19950,0,0,0,25124,0,0,3,129176,0,0,0,7222,0,0,0,30616,0,0]
["SUGP2","ENSG00000064607",19,19136705,"rs1172426676","G","A","gnomAD_Exomes","PASS","NA","p.Gln53Ter","p.Gln53Ter","c.157C>T","stop_gained","lof_flag",1,251474,3.97655423622323e-06,0,0,0,16256,0,0,1,34590,0,0,0,10078,0,0,0,18394,0,0,0,21648,0,0,0,113752,0,0,0,6140,0,0,0,30616,0,0]
["SUGP2","ENSG00000064607",19,19105928,"rs1160348515","C","T","gnomAD_Exomes","PASS","NA","p.Trp820Ter","p.Trp820Ter","c.2460G>A","stop_gained","lc_lof",2,239660,8.34515563715263e-06,0,0,0,15170,0,0,0,33934,0,0,0,9810,0,0,0,18050,0,0,0,19192,0,0,0,108250,0,0,0,5864,0,0,2,29390,0,0]
["SULT6B1","ENSG00000138068",2,37395213,"rs776246526","A","AACCTACG","gnomAD_Exomes","PASS","NA","c.668-6_668-5insCGTAGGT",null,"c.668-6_668-5insCGTAGGT","splice_region_variant","lc_lof,os_lof",1,216380,4.62149921434513e-06,0,0,0,14888,0,0,0,22942,0,0,0,8630,0,0,0,15508,0,0,0,20894,0,0,1,104536,0,0,0,5108,0,0,0,23874,0,0]
["SULT6B1","ENSG00000138068",2,37423664,"rs963379055","G","T","gnomAD_Genomes","NA","PASS","c.-2+1G>T",null,"c.-2+1G>T","splice_donor_variant","lc_lof",2,31406,6.36820989619818e-05,0,0,0,8714,0,0,0,848,0,0,0,290,0,0,1,1560,0,0,1,3476,0,0,0,15430,0,0,0,1088,0,0,0,0,0,0]
["SULT6B1","ENSG00000138068",2,37395095,"rs775564234","ATT","A","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Glu260ValfsTer26","p.Glu260ValfsTer26","c.779_780delAA","frameshift_variant","lc_lof",2,265014,7.54677111397888e-06,0,0,0,24234,0,0,0,29354,0,0,0,9978,0,0,0,18228,0,0,0,24850,0,0,2,124894,0,0,0,6700,0,0,0,26776,0,0]
["TAGLN2","ENSG00000158710",1,159889056,"rs1336052947","ATACT","A","gnomAD_Exomes","PASS","NA","c.458+4_458+7delAGTA",null,"c.458+4_458+7delAGTA","splice_region_variant","segdup,lc_lof,os_lof",3,251448,1.19308962489262e-05,0,0,0,16242,0,0,0,34584,0,0,3,10080,0,0,0,18392,0,0,0,21646,0,0,0,113748,0,0,0,6140,0,0,0,30616,0,0]
["TARBP2","ENSG00000139546",12,53898178,"rs74090784","C","G","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","c.423-3C>G",null,"c.423-3C>G","splice_region_variant","segdup,lc_lof,os_lof",1749,223496,0.007825643411963,55,0,1622,24192,54,0,85,23980,0,0,0,5062,0,0,0,17452,0,0,0,21912,0,0,21,106790,0,0,18,5548,1,0,3,18560,0,0]
["TARBP2","ENSG00000139546",12,53895796,"rs760680867","C","G","gnomAD_Exomes","PASS","NA","c.54-3C>G",null,"c.54-3C>G","splice_region_variant","segdup,lc_lof,os_lof",1,250916,3.985397503546999e-06,0,0,0,16254,0,0,0,34566,0,0,0,10058,0,0,0,18392,0,0,0,21628,0,0,1,113292,0,0,0,6120,0,0,0,30606,0,0]
["TCP10","ENSG00000203690",6,167787841,"rs1467587667","G","A","gnomAD_Exomes","PASS","NA","p.Gln263Ter","p.Gln263Ter","c.787C>T","stop_gained","segdup,lof_flag",1,233434,4.283866103481069e-06,0,0,0,14760,0,0,0,32540,0,0,0,8942,0,0,0,16942,0,0,0,20910,0,0,1,106052,0,0,0,5658,0,0,0,27630,0,0]
["TCP10","ENSG00000203690",6,167789547,"rs780060908","G","A","gnomAD_Exomes","PASS","NA","p.Arg199Ter","p.Arg199Ter","c.595C>T","stop_gained","segdup,lof_flag",3,249076,1.2044516533106401e-05,0,0,0,15372,0,0,0,34498,0,0,0,10060,0,0,2,17974,0,0,0,21560,0,0,1,113016,0,0,0,6052,0,0,0,30544,0,0]
["TCP10","ENSG00000203690",6,167787912,"rs1346990303","GA","G","gnomAD_Exomes","PASS","NA","p.Ser239LeufsTer29","p.Ser239LeufsTer29","c.715delT","frameshift_variant","segdup,lof_flag",1,248516,4.023885786025849e-06,0,0,0,15414,0,0,0,34412,0,0,0,10020,0,0,0,17928,0,0,0,21556,0,0,1,112696,0,0,0,6034,0,0,0,30456,0,0]
["TCP10","ENSG00000203690",6,167797776,"rs1339185633","GA","G","gnomAD_Exomes","PASS","NA","p.Leu50SerfsTer82","p.Leu50SerfsTer82","c.144delT","frameshift_variant","segdup,lof_flag",1,114204,8.75626072641939e-06,0,0,0,5662,0,0,1,21818,0,0,0,6532,0,0,0,8710,0,0,0,4220,0,0,0,44388,0,0,0,3614,0,0,0,19260,0,0]
["TCP10","ENSG00000203690",6,167794831,"rs1198679863","T","C","gnomAD_Exomes","PASS","NA","c.64-7A>G",null,"c.64-7A>G","splice_region_variant","segdup,lc_lof,os_lof",3,63050,4.75812846946868e-05,0,0,0,4084,0,0,0,9054,0,0,0,1740,0,0,3,7240,0,0,0,10504,0,0,0,22720,0,0,0,1778,0,0,0,5930,0,0]
["TCP10","ENSG00000203690",6,167794588,"rs200225479","A","T","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Cys100Ter","p.Cys100Ter","c.300T>A","stop_gained","segdup,lc_lof",6968,182996,0.038077335023716005,1440,0,114,13036,18,0,514,21842,126,0,516,6430,159,0,2,14808,1,0,583,17826,103,0,3955,85944,750,0,185,4604,31,0,1099,18506,252,0]
["TCP10","ENSG00000203690",6,167790000,"rs769571543","GC","G","gnomAD_Exomes","PASS","NA","p.Trp199CysfsTer33","p.Trp199CysfsTer33","c.597delG","frameshift_variant","segdup,lc_lof",1,141352,7.07453732525893e-06,0,0,0,10272,0,0,0,16550,0,0,0,5290,0,0,0,11844,0,0,0,11870,0,0,1,67854,0,0,0,3676,0,0,0,13996,0,0]
["TCP10","ENSG00000203690",6,167786783,"rs371810273","C","CT","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Glu286GlyfsTer16","p.Glu286GlyfsTer16","c.854dupA","frameshift_variant","segdup,lc_lof",3,280652,1.0689394695209701e-05,0,0,0,24198,0,0,0,35376,0,0,0,10358,0,0,0,19538,0,0,0,25038,0,0,3,128400,0,0,0,7142,0,0,0,30602,0,0]
["TCP10","ENSG00000203690",6,167794583,"rs372536092","CA","C","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Cys102ValfsTer47","p.Cys102ValfsTer47","c.304delT","frameshift_variant","segdup,lc_lof",6967,183296,0.038009558310056,1443,0,111,13080,17,0,514,21838,126,0,517,6438,160,0,2,14824,1,0,586,17832,105,0,3953,86162,749,0,186,4612,31,0,1098,18510,254,0]
["TEX101","ENSG00000131126",19,43920066,"rs764723968","G","GA","gnomAD_Exomes","PASS","NA","p.Ala18SerfsTer46","p.Ala18SerfsTer46","c.51dupA","frameshift_variant","lof_flag",6,251478,2.3858945911769605e-05,0,0,0,16256,0,0,6,34592,0,0,0,10080,0,0,0,18394,0,0,0,21640,0,0,0,113762,0,0,0,6138,0,0,0,30616,0,0]
["TEX101","ENSG00000131126",19,43920707,"rs752679478","G","T","gnomAD_Exomes","PASS","NA","p.Ala149Ser","p.Ala149Ser","c.445G>T","missense_variant","lc_lof,os_lof",2,249306,8.02226982102316e-06,0,0,0,16240,0,0,0,34344,0,0,0,9854,0,0,0,18392,0,0,0,21522,0,0,2,112450,0,0,0,6074,0,0,0,30430,0,0]
["TEX101","ENSG00000131126",19,43922495,"rs781479770","G","A","gnomAD_Exomes","PASS","NA","p.Trp250Ter","p.Trp250Ter","c.750G>A","stop_gained","lc_lof",2,251458,7.95361452011867e-06,0,0,0,16256,0,0,1,34588,0,0,0,10080,0,0,0,18394,0,0,0,21640,0,0,1,113748,0,0,0,6136,0,0,0,30616,0,0]
["TEX101","ENSG00000131126",19,43922493,"rs1333199647","TG","T","gnomAD_Exomes","PASS","NA","p.Leu252TyrfsTer45","p.Leu252TyrfsTer45","c.753delG","frameshift_variant","lc_lof",1,251454,3.97687052104958e-06,0,0,0,16256,0,0,0,34588,0,0,0,10080,0,0,0,18394,0,0,0,21640,0,0,1,113744,0,0,0,6136,0,0,0,30616,0,0]
["TFPT","ENSG00000105619",19,54613431,"rs762717206","T","A","gnomAD_Exomes","PASS","NA","c.353+3A>T",null,"c.353+3A>T","splice_region_variant","lc_lof,os_lof",2,251330,7.95766522102415e-06,0,0,0,16248,0,0,0,34584,0,0,0,10072,0,0,0,18390,0,0,0,21646,0,0,0,113640,0,0,0,6134,0,0,2,30616,0,0]
["TFPT","ENSG00000105619",19,54618418,"rs587726320","A","C","gnomAD_Genomes","NA","PASS","c.-5+2T>G",null,"c.-5+2T>G","splice_donor_variant","lc_lof",2,31332,6.38325035107877e-05,0,0,1,8694,0,0,1,848,0,0,0,290,0,0,0,1548,0,0,0,3470,0,0,0,15402,0,0,0,1080,0,0,0,0,0,0]
["TFPT","ENSG00000105619",19,54610433,"rs760267343","AG","A","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Leu229TrpfsTer32","p.Leu229TrpfsTer32","c.685delC","frameshift_variant","lc_lof",3,282798,1.0608278700698e-05,0,0,3,24952,0,0,0,35420,0,0,0,10364,0,0,0,19948,0,0,0,25112,0,0,0,129162,0,0,0,7224,0,0,0,30616,0,0]
["TJP3","ENSG00000105289",19,3750617,"rs200584158","C","T","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Arg908Ter","p.Arg908Ter","c.2722C>T","stop_gained","segdup,lc_lof",19,272964,6.960624844301811e-05,0,0,1,23890,0,0,3,34378,0,0,0,10024,0,0,0,19614,0,0,0,23894,0,0,10,124758,0,0,1,7058,0,0,4,29348,0,0]
["TJP3","ENSG00000105289",19,3750666,"rs371169848","C","CG","gnomAD_Exomes","PASS","NA","p.Ala925GlyfsTer3","p.Ala925GlyfsTer3","c.2773dupG","frameshift_variant","segdup,lc_lof",1,226896,4.40730554967915e-06,0,0,0,14100,0,0,0,31932,0,0,0,9458,0,0,0,17174,0,0,0,19054,0,0,0,101662,0,0,0,5714,0,0,1,27802,0,0]
["TJP3","ENSG00000105289",19,3728716,"rs761976594","G","T","gnomAD_Exomes","PASS","NA","c.185+5G>T",null,"c.185+5G>T","splice_region_variant","lc_lof,os_lof",5,246334,2.0297644661313503e-05,0,0,0,15794,0,0,5,34322,0,0,0,9750,0,0,0,18252,0,0,0,21060,0,0,0,111090,0,0,0,5912,0,0,0,30154,0,0]
["TJP3","ENSG00000105289",19,3739132,"rs1470663341","G","C","gnomAD_Genomes","NA","PASS","p.Arg553Thr","p.Arg553Thr","c.1658G>C","missense_variant","lc_lof,os_lof",1,31400,3.18471337579618e-05,0,0,0,8710,0,0,0,848,0,0,0,290,0,0,0,1560,0,0,0,3476,0,0,1,15428,0,0,0,1088,0,0,0,0,0,0]
["TMEM147","ENSG00000105677",19,36037564,"rs1211532977","T","A","gnomAD_Exomes","PASS","NA","c.208-10T>A",null,"c.208-10T>A","intron_variant","lc_lof,os_lof",1,250308,3.99507806382537e-06,0,0,0,16254,0,0,0,34454,0,0,0,9980,0,0,0,18392,0,0,0,21574,0,0,1,113148,0,0,0,6090,0,0,0,30416,0,0]
["TOX2","ENSG00000124191",20,42574556,"rs1163672507","C","T","gnomAD_Exomes","PASS","NA","p.Gln2Ter","p.Gln2Ter","c.4C>T","stop_gained","lof_flag",2,248586,8.045505378420341e-06,0,0,0,15484,0,0,2,34524,0,0,0,10072,0,0,0,17974,0,0,0,20680,0,0,0,113196,0,0,0,6056,0,0,0,30600,0,0]
["TOX2","ENSG00000124191",20,42695497,"rs6130514","G","T","gnomAD_Genomes","NA","PASS","p.Ser495Ile","p.Ser495Ile","c.1484G>T","missense_variant","lc_lof,os_lof",1,31402,3.18451054072989e-05,0,0,0,8718,0,0,0,846,0,0,0,290,0,0,0,1560,0,0,0,3474,0,0,1,15426,0,0,0,1088,0,0,0,0,0,0]
["TOX2","ENSG00000124191",20,42697310,"rs779716371","C","A","gnomAD_Exomes","PASS","NA","p.Ser502Ter","p.Ser502Ter","c.1505C>A","stop_gained","lc_lof",1,251074,3.98288950667931e-06,0,0,0,16256,0,0,0,34564,0,0,0,10054,0,0,0,18392,0,0,0,21620,0,0,1,113458,0,0,0,6128,0,0,0,30602,0,0]
["TP53BP1","ENSG00000067369",15,43769899,"rs1414749761","GT","G","gnomAD_Exomes","PASS","NA","p.Glu282AspfsTer141","p.Glu282AspfsTer141","c.846delA","frameshift_variant","lof_flag",1,250950,3.9848575413429e-06,0,0,0,16244,0,0,1,34386,0,0,0,10078,0,0,0,18338,0,0,0,21642,0,0,0,113644,0,0,0,6118,0,0,0,30500,0,0]
["TP53BP1","ENSG00000067369",15,43730621,"rs773640154","C","CTAA","gnomAD_Exomes","PASS","NA","c.3099-8_3099-7insTTA",null,"c.3099-8_3099-7insTTA","splice_region_variant","lc_lof,os_lof",1,246030,4.06454497419014e-06,0,0,0,16062,0,0,0,32726,0,0,0,9994,0,0,0,18054,0,0,0,21596,0,0,1,112094,0,0,0,5942,0,0,0,29562,0,0]
["TP53BP1","ENSG00000067369",15,43720367,"rs777765925","CTG","C","gnomAD_Exomes","PASS","NA","c.3676-3_3676-2delCA",null,"c.3676-3_3676-2delCA","splice_acceptor_variant","lc_lof",3,250044,1.1997888371646601e-05,0,0,0,16238,0,0,0,34178,0,0,0,10028,0,0,0,18312,0,0,0,21564,0,0,3,113202,0,0,0,6108,0,0,0,30414,0,0]
["TP53BP1","ENSG00000067369",15,43714023,"rs749317244","G","GCT","gnomAD_Exomes","PASS","NA","p.Ala135GlufsTer9","p.Ala135GlufsTer9","c.401_402dupAG","frameshift_variant","lc_lof",2,237750,8.41219768664564e-06,0,0,0,15880,0,0,0,32758,0,0,0,9072,0,0,1,17902,0,0,0,20708,0,0,1,107564,0,0,0,5766,0,0,0,28100,0,0]
["TPD52L1","ENSG00000111907",6,125574901,"rs773613883","G","A","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Arg142Lys","p.Arg142Lys","c.425G>A","missense_variant","lc_lof,os_lof",4,282558,1.4156385591630702e-05,0,0,4,24960,0,0,0,35408,0,0,0,10368,0,0,0,19950,0,0,0,25032,0,0,0,129030,0,0,0,7204,0,0,0,30606,0,0]
["TPT1","ENSG00000133112",13,45914957,"rs2234216","T","C","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","c.-10-2A>G",null,"c.-10-2A>G","splice_acceptor_variant","segdup,lc_lof",107723,178426,0.603740486252004,33882,0,17577,20438,7584,0,8544,17798,2030,0,1802,3008,542,0,4871,14708,786,0,11145,18472,3352,0,55130,87188,17309,0,2564,4364,772,0,6090,12450,1507,0]
["TPT1","ENSG00000133112",13,45912762,"rs749456049","ATTAT","A","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Asn182MetfsTer2","p.Asn182MetfsTer2","c.545_548delATAA","frameshift_variant","lc_lof",19,267820,7.0943170786349e-05,0,0,1,24402,0,0,0,31146,0,0,0,9700,0,0,0,19054,0,0,0,24870,0,0,18,124674,0,0,0,6786,0,0,0,27188,0,0]
["TRIB3","ENSG00000101255",20,363262,"rs1447830049","TG","T","gnomAD_Exomes","PASS","NA","p.Trp25CysfsTer28","p.Trp25CysfsTer28","c.75delG","frameshift_variant","lof_flag",7,128416,5.4510341390480906e-05,0,0,0,6086,0,0,0,24350,0,0,0,8094,0,0,7,10432,0,0,0,5388,0,0,0,47680,0,0,0,4002,0,0,0,22384,0,0]
["TRIB3","ENSG00000101255",20,377233,"rs529433973","C","T","gnomAD_Exomes","PASS","NA","p.Arg326Ter","p.Arg326Ter","c.976C>T","stop_gained","lc_lof",6,247556,2.42369403286529e-05,0,0,0,15432,0,0,0,34524,0,0,0,9978,0,0,0,18308,0,0,0,21634,0,0,0,111072,0,0,0,6096,0,0,6,30512,0,0]
["TRIB3","ENSG00000101255",20,377206,"rs779124482","C","T","gnomAD_Exomes","PASS","NA","p.Gln317Ter","p.Gln317Ter","c.949C>T","stop_gained","lc_lof",1,247822,4.03515426394751e-06,0,0,0,15496,0,0,0,34536,0,0,0,9982,0,0,0,18312,0,0,0,21634,0,0,0,111256,0,0,0,6082,0,0,1,30524,0,0]
["TRIB3","ENSG00000101255",20,361815,"rs1050938517","T","C","gnomAD_Genomes","NA","PASS","c.-1+2T>C",null,"c.-1+2T>C","splice_donor_variant","lc_lof",2,30696,6.515506906437321e-05,0,0,0,8562,0,0,2,820,0,0,0,284,0,0,0,1556,0,0,0,3396,0,0,0,15024,0,0,0,1054,0,0,0,0,0,0]
["TRIB3","ENSG00000101255",20,377210,"rs755926988","ACCCGATG","A","gnomAD_Exomes","PASS","NA","p.Met320Ter","p.Met320Ter","c.957_963delGATGCCC","frameshift_variant","lc_lof",2,247780,8.07167648720639e-06,0,0,2,15492,0,0,0,34526,0,0,0,9980,0,0,0,18312,0,0,0,21624,0,0,0,111242,0,0,0,6088,0,0,0,30516,0,0]
["TSPAN10","ENSG00000182612",17,79615274,"rs1463512755","C","T","gnomAD_Genomes","NA","PASS","p.Gln340Ter","p.Gln340Ter","c.1018C>T","stop_gained","lc_lof",2,30586,6.538939384031912e-05,0,0,1,8620,0,0,0,756,0,0,0,288,0,0,0,1560,0,0,0,3106,0,0,1,15204,0,0,0,1052,0,0,0,0,0,0]
["TSPAN10","ENSG00000182612",17,79615113,"rs1241892406","G","A","gnomAD_Exomes","PASS","NA","p.Trp286Ter","p.Trp286Ter","c.857G>A","stop_gained","lc_lof",1,202702,4.93335043561484e-06,0,0,0,11416,0,0,0,30394,0,0,0,9158,0,0,0,15226,0,0,0,14424,0,0,1,89684,0,0,0,5206,0,0,0,27194,0,0]
["TSPAN10","ENSG00000182612",17,79614982,null,"C","CT","gnomAD_Exomes","PASS","NA","p.Cys243LeufsTer197","p.Cys243LeufsTer197","c.727dupT","frameshift_variant","lc_lof",1,239772,4.17062876399246e-06,0,0,0,14530,0,0,0,33924,0,0,0,9854,0,0,0,17608,0,0,0,19898,0,0,0,108086,0,0,0,5888,0,0,1,29984,0,0]
["TSPAN10","ENSG00000182612",17,79615067,"rs778503595","C","CAG","gnomAD_Exomes","PASS","NA","p.Val273GlufsTer106","p.Val273GlufsTer106","c.816_817dupAG","frameshift_variant","lc_lof",1,218756,4.5713031871125796e-06,0,0,0,12812,0,0,0,31806,0,0,0,9516,0,0,0,16366,0,0,0,16332,0,0,1,98182,0,0,0,5474,0,0,0,28268,0,0]
["TYRO3","ENSG00000092445",15,41863235,"rs931710352","G","A","gnomAD_Exomes","PASS","NA","c.1580-1G>A",null,"c.1580-1G>A","splice_acceptor_variant","segdup,lof_flag",2,251400,7.95544948289578e-06,0,0,0,16254,0,0,2,34584,0,0,0,10076,0,0,0,18394,0,0,0,21644,0,0,0,113694,0,0,0,6140,0,0,0,30614,0,0]
["TYRO3","ENSG00000092445",15,41865670,"rs759983148","G","C","gnomAD_Exomes","PASS","NA","c.2145+5G>C",null,"c.2145+5G>C","splice_region_variant","segdup,lc_lof,os_lof",1,226642,4.41224486194086e-06,0,0,0,15884,0,0,0,32974,0,0,0,7618,0,0,0,18324,0,0,0,19214,0,0,0,98682,0,0,1,5496,0,0,0,28450,0,0]
["TYRO3","ENSG00000092445",15,41866015,null,"T","TATGATCTCATGTACCAGTGCTGGAGTGCTGACCCCAAGCA","gnomAD_Exomes","PASS","NA","c.2282+2_2282+3insATGATCTCATGTACCAGTGCTGGAGTGCTGACCCCAAGCA",null,"c.2282+2_2282+3insATGATCTCATGTACCAGTGCTGGAGTGCTGACCCCAAGCA","splice_region_variant","lc_lof,os_lof",490,244304,0.0020056978191110002,0,0,5,16002,0,0,85,33860,0,0,62,9618,0,0,4,18326,0,0,36,21116,0,0,231,109438,0,0,15,5942,0,0,52,30002,0,0]
["TYRO3","ENSG00000092445",15,41866015,null,"T","TATGATCTCATGTACCAGTGCTGGAGTGCTGACCCCAAGCAGCGCCCGAGCTTTACTTGTCTGCGAATGGAACTG","gnomAD_Exomes","PASS","NA","c.2282+2_2282+3insATGATCTCATGTACCAGTGCTGGAGTGCTGACCCCAAGCAGCGCCCGAGCTTTACTTGTCTGCGAATGGAACTG",null,"c.2282+2_2282+3insATGATCTCATGTACCAGTGCTGGAGTGCTGACCCCAAGCAGCGCCCGAGCTTTACTTGTCTGCGAATGGAACTG","splice_region_variant","lc_lof,os_lof",133,244304,0.0005444036937590001,0,0,7,16002,0,0,23,33860,0,0,4,9618,0,0,3,18326,0,0,0,21116,0,0,82,109438,0,0,5,5942,0,0,9,30002,0,0]
["UBE2D2","ENSG00000131508",5,138941993,"rs1386038142","G","GT","gnomAD_Exomes","PASS","NA","c.-64+2dupT",null,"c.-64+2dupT","splice_donor_variant","lc_lof",1,163864,6.10262168627642e-06,0,0,0,8656,0,0,0,25924,0,0,0,8636,0,0,0,12478,0,0,0,8256,0,0,1,71428,0,0,0,4764,0,0,0,23722,0,0]
["UBE2D3","ENSG00000109332",4,103789889,"rs764625985","G","A","gnomAD_Exomes","PASS","NA","p.Arg5Ter","p.Arg5Ter","c.13C>T","stop_gained","lof_flag",1,251482,3.97642773637875e-06,0,0,0,16256,0,0,0,34590,0,0,0,10080,0,0,0,18394,0,0,1,21648,0,0,0,113760,0,0,0,6138,0,0,0,30616,0,0]
["UBE2D3","ENSG00000109332",4,103720139,"rs141984049","T","C","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","c.399-5A>G",null,"c.399-5A>G","splice_region_variant","lc_lof,os_lof",104,282076,0.000368694961642,0,0,6,24942,0,0,0,35394,0,0,0,10348,0,0,82,19942,0,0,2,24888,0,0,9,128766,0,0,3,7202,0,0,2,30594,0,0]
["UBE2D3","ENSG00000109332",4,103789867,"rs377340063","C","T","gnomAD_Exomes","PASS","NA","c.30+5G>A",null,"c.30+5G>A","splice_region_variant","lc_lof,os_lof",1,251476,3.97652261050756e-06,0,0,0,16256,0,0,0,34588,0,0,0,10080,0,0,0,18394,0,0,0,21648,0,0,1,113758,0,0,0,6136,0,0,0,30616,0,0]
["UBE2G2","ENSG00000184787",21,46221314,"rs782218615","CT","C","gnomAD_Genomes","NA","PASS","c.-156-2delA",null,"c.-156-2delA","splice_acceptor_variant","lc_lof",1,31398,3.18491623670297e-05,0,0,0,8714,0,0,0,848,0,0,0,290,0,0,0,1560,0,0,0,3474,0,0,0,15424,0,0,1,1088,0,0,0,0,0,0]
["UGP2","ENSG00000169764",2,64118323,"rs774788096","A","AAGAT","gnomAD_Exomes","PASS","NA","p.Val499AspfsTer14","p.Val499AspfsTer14","c.1490_1493dupAGAT","frameshift_variant","lc_lof",1,251200,3.98089171974522e-06,0,0,0,16254,0,0,0,34506,0,0,0,10074,0,0,0,18384,0,0,0,21642,0,0,1,113614,0,0,0,6122,0,0,0,30604,0,0]
["UNC50","ENSG00000115446",2,99234733,"rs774360641","C","G","gnomAD_Exomes","PASS","NA","p.Tyr123Ter","p.Tyr123Ter","c.368C>G","stop_gained","lc_lof",1,246916,4.0499603103889605e-06,0,0,1,16136,0,0,0,33274,0,0,0,9968,0,0,0,17956,0,0,0,21508,0,0,0,112336,0,0,0,6004,0,0,0,29734,0,0]
["UNC50","ENSG00000115446",2,99227236,"rs199639979","A","G","gnomAD_Exomes","PASS","NA","c.281-2A>G",null,"c.281-2A>G","splice_acceptor_variant","lc_lof",1,250518,3.99172913722766e-06,0,0,1,16240,0,0,0,34298,0,0,0,10038,0,0,0,18302,0,0,0,21628,0,0,0,113456,0,0,0,6108,0,0,0,30448,0,0]
["UNC50","ENSG00000115446",2,99234755,"rs368384475","C","CAG","gnomAD_Exomes","PASS","NA","p.Val258GlufsTer2","p.Val258GlufsTer2","c.771_772dupAG","frameshift_variant","lc_lof",3,234780,1.2777919754663901e-05,0,0,0,15898,0,0,0,29432,0,0,0,9298,0,0,0,17174,0,0,0,21208,0,0,3,109010,0,0,0,5704,0,0,0,27056,0,0]
["UNC50","ENSG00000115446",2,99234739,"rs773760950","G","GTTCT","gnomAD_Exomes","PASS","NA","p.Tyr254PhefsTer3","p.Tyr254PhefsTer3","c.757_760dupTTCT","frameshift_variant","lc_lof",1,244860,4.08396634811729e-06,0,0,0,16084,0,0,0,32716,0,0,0,9912,0,0,0,17718,0,0,0,21452,0,0,1,111684,0,0,0,5972,0,0,0,29322,0,0]
["UNC50","ENSG00000115446",2,99234749,"rs766743308","T","TAAGTA","gnomAD_Exomes","PASS","NA","p.Tyr256Ter","p.Tyr256Ter","c.763_767dupAAGTA","frameshift_variant","lc_lof",1,243056,4.11427819103417e-06,0,0,0,16060,0,0,0,32134,0,0,0,9788,0,0,0,17616,0,0,0,21428,0,0,1,111200,0,0,0,5938,0,0,0,28892,0,0]
["URGCP","ENSG00000106608",7,43921506,"rs745872047","C","T","gnomAD_Exomes","PASS","NA","p.Asp55Asn","p.Asp55Asn","c.163G>A","missense_variant","lc_lof,os_lof",2,247374,8.08492404213862e-06,0,0,1,15486,0,0,0,34516,0,0,0,10064,0,0,0,17978,0,0,0,21562,0,0,0,111120,0,0,0,6048,0,0,1,30600,0,0]
["URGCP","ENSG00000106608",7,43920861,"rs1259820595","CCCAG","C","gnomAD_Genomes","NA","PASS","p.Thr62SerfsTer?","p.Thr62SerfsTer?","c.185_188delCTGG","frameshift_variant","lc_lof",2,31400,6.36942675159236e-05,0,0,0,8712,0,0,0,848,0,0,0,290,0,0,0,1558,0,0,0,3474,0,0,2,15432,0,0,0,1086,0,0,0,0,0,0]
["WRB","ENSG00000182093",21,40792632,"rs569364432","C","T","gnomAD_Exomes","PASS","NA","c.975G>A","c.975G>A(p.=)","c.975G>A","splice_region_variant","lc_lof,os_lof",2,249840,8.0051232788985e-06,0,0,0,16202,0,0,1,34004,0,0,0,9994,0,0,1,18326,0,0,0,21626,0,0,0,113220,0,0,0,6086,0,0,0,30382,0,0]
["WRB","ENSG00000182093",21,40777857,"rs769708081","G","T","gnomAD_Exomes","PASS","NA","p.Glu65Ter","p.Glu65Ter","c.192G>T","stop_gained","lc_lof",3,250488,1.19766216345693e-05,0,0,0,16102,0,0,0,34272,0,0,0,10026,0,0,0,18352,0,0,0,21624,0,0,3,113472,0,0,0,6102,0,0,0,30538,0,0]
["WRB","ENSG00000182093",21,40777956,"rs767052502","G","T","gnomAD_Exomes","PASS","NA","p.Ser622Ter","p.Ser622Ter","c.1865C>A","stop_gained","lc_lof",1,251474,3.97655423622323e-06,0,0,0,16256,0,0,1,34592,0,0,0,10076,0,0,0,18394,0,0,0,21648,0,0,0,113754,0,0,0,6138,0,0,0,30616,0,0]
["WRB","ENSG00000182093",21,40778153,"rs760830441","G","GC","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Lys557GlnfsTer5","p.Lys557GlnfsTer5","c.1667dupG","frameshift_variant","lc_lof",81,282896,0.00028632430292400003,0,0,0,24970,0,0,0,35440,0,0,0,10370,0,0,0,19954,0,0,77,25124,0,0,2,129198,0,0,2,7224,0,0,0,30616,0,0]
["WRB","ENSG00000182093",21,40777815,"rs780510799","ATTAT","A","gnomAD_Exomes","PASS","NA","p.Ile668LeufsTer?","p.Ile668LeufsTer?","c.2002_2005delATAA","frameshift_variant","lc_lof",2,236494,8.45687417016922e-06,0,0,0,14588,0,0,0,31232,0,0,0,9030,0,0,0,17468,0,0,0,20470,0,0,2,108628,0,0,0,5638,0,0,0,29440,0,0]
["WRB","ENSG00000182093",21,40778011,"rs772449001","CAA","C","gnomAD_Exomes","PASS","NA","p.Phe603TrpfsTer9","p.Phe603TrpfsTer9","c.1808_1809delTT","frameshift_variant","lc_lof",2,251436,7.954310440827889e-06,0,0,0,16256,0,0,0,34590,0,0,0,10078,0,0,0,18394,0,0,0,21638,0,0,2,113730,0,0,0,6134,0,0,0,30616,0,0]
["WRB","ENSG00000182093",21,40778083,"rs1272939641","T","TAA","gnomAD_Exomes","PASS","NA","p.Lys580LeufsTer6","p.Lys580LeufsTer6","c.1737_1738insTT","frameshift_variant","lc_lof",1,251486,3.9763644894745595e-06,0,0,0,16256,0,0,0,34590,0,0,0,10080,0,0,0,18394,0,0,0,21648,0,0,1,113762,0,0,0,6140,0,0,0,30616,0,0]
["WRB","ENSG00000182093",21,40777977,"rs750984933","CTTGA","C","gnomAD_Genomes","NA","PASS","p.Ser614ValfsTer36","p.Ser614ValfsTer36","c.1840_1843delTCAA","frameshift_variant","lc_lof",1,31400,3.18471337579618e-05,0,0,0,8712,0,0,0,848,0,0,0,290,0,0,0,1560,0,0,0,3476,0,0,1,15426,0,0,0,1088,0,0,0,0,0,0]
["XPO6","ENSG00000169180",16,28112762,"rs765683194","CCT","C","gnomAD_Exomes","PASS","NA","p.Gly106ProfsTer3","p.Gly106ProfsTer3","c.315_316delAG","frameshift_variant","lc_lof",1,247176,4.04570022979577e-06,0,0,1,15424,0,0,0,34492,0,0,0,10058,0,0,0,17974,0,0,0,21496,0,0,0,111094,0,0,0,6042,0,0,0,30596,0,0]
["ZNF180","ENSG00000167384",19,44988611,"rs117709784","G","A","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Arg66Ter","p.Arg66Ter","c.196C>T","stop_gained","lof_flag",529,282848,0.00187026247313,1,0,8,24970,0,0,4,35440,0,0,18,10370,0,0,8,19952,0,0,58,25114,0,0,419,129160,1,0,14,7228,0,0,0,30614,0,0]
["ZNF180","ENSG00000167384",19,44983578,"rs979243875","G","A","gnomAD_Exomes","PASS","NA","p.Gln86Ter","p.Gln86Ter","c.256C>T","stop_gained","lof_flag",1,251328,3.97886427298192e-06,0,0,0,16236,0,0,1,34562,0,0,0,10076,0,0,0,18390,0,0,0,21646,0,0,0,113680,0,0,0,6134,0,0,0,30604,0,0]
["ZNF180","ENSG00000167384",19,44983514,"rs779519680","T","TC","gnomAD_Exomes","PASS","NA","p.Asp107GlyfsTer24","p.Asp107GlyfsTer24","c.319dupG","frameshift_variant","lof_flag",1,251126,3.98206478022984e-06,0,0,0,16240,0,0,0,34528,0,0,0,10068,0,0,0,18382,0,0,0,21630,0,0,0,113562,0,0,1,6116,0,0,0,30600,0,0]
["ZNF180","ENSG00000167384",19,44989323,"rs1379653146","GATCATGCCACT","G","gnomAD_Genomes","NA","PASS","p.Ser25LeufsTer13","p.Ser25LeufsTer13","c.73_83delAGTGGCATGAT","frameshift_variant","lof_flag",1,30160,3.315649867374e-05,0,0,1,8390,0,0,0,830,0,0,0,288,0,0,0,1536,0,0,0,3162,0,0,0,14924,0,0,0,1030,0,0,0,0,0,0]
["ZNF180","ENSG00000167384",19,44980624,"rs770682288","TAC","T","gnomAD_Exomes","PASS","NA","p.Cys691Ter","p.Cys691Ter","c.2072_2073delGT","frameshift_variant","lc_lof",4,218364,1.83180377717939e-05,0,0,0,15656,0,0,1,25464,0,0,0,7462,0,0,0,16736,0,0,0,20090,0,0,0,103648,0,0,0,5076,0,0,3,24232,0,0]
["ZNF180","ENSG00000167384",19,44980693,"rs754878929","CT","C","gnomAD_Exomes","PASS","NA","p.Ala669LeufsTer27","p.Ala669LeufsTer27","c.2004delA","frameshift_variant","lc_lof",1,251096,3.98254054226272e-06,0,0,0,16250,0,0,1,34558,0,0,0,10066,0,0,0,18394,0,0,0,21620,0,0,0,113496,0,0,0,6124,0,0,0,30588,0,0]
["ZNF438","ENSG00000183621",10,31134105,"rs775711700","G","A","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Gln758Ter","p.Gln758Ter","c.2272C>T","stop_gained","lc_lof",2,282884,7.07003577438102e-06,0,0,2,24966,0,0,0,35440,0,0,0,10370,0,0,0,19954,0,0,0,25122,0,0,0,129190,0,0,0,7226,0,0,0,30616,0,0]
["ZNF438","ENSG00000183621",10,31230581,"rs944318812","C","A","gnomAD_Genomes","NA","PASS","c.-320-1G>T",null,"c.-320-1G>T","splice_acceptor_variant","lc_lof",3,31388,9.557792787052371e-05,0,0,3,8710,0,0,0,848,0,0,0,290,0,0,0,1560,0,0,0,3472,0,0,0,15420,0,0,0,1088,0,0,0,0,0,0]
["ZNF438","ENSG00000183621",10,31134470,"rs778031047","AG","A","gnomAD_Exomes","PASS","NA","p.Leu636PhefsTer2","p.Leu636PhefsTer2","c.1906delC","frameshift_variant","lc_lof",13,248626,5.22873713931769e-05,0,0,0,15540,0,0,0,34474,0,0,0,9992,0,0,0,18362,0,0,0,21628,0,0,13,112158,0,0,0,6076,0,0,0,30396,0,0]
["ZNF438","ENSG00000183621",10,31134325,"rs760343538","TG","T","gnomAD_Exomes","PASS","NA","p.Pro684GlnfsTer43","p.Pro684GlnfsTer43","c.2051delC","frameshift_variant","lc_lof",1,251482,3.97642773637875e-06,0,0,1,16256,0,0,0,34588,0,0,0,10080,0,0,0,18392,0,0,0,21642,0,0,0,113770,0,0,0,6138,0,0,0,30616,0,0]
["ZNF460","ENSG00000197714",19,57803095,"rs777360307","G","T","gnomAD_Exomes","PASS","NA","p.Glu396Ter","p.Glu396Ter","c.1186G>T","stop_gained","segdup,lc_lof",1,251390,3.977882970682999e-06,0,0,0,16252,0,0,0,34588,0,0,0,10074,0,0,0,18394,0,0,0,21640,0,0,0,113690,0,0,0,6138,0,0,1,30614,0,0]
["ZNF460","ENSG00000197714",19,57803552,"rs1365806460","C","G","gnomAD_Exomes","PASS","NA","p.Ser548Ter","p.Ser548Ter","c.1643C>G","stop_gained","segdup,lc_lof",1,250760,3.98787685436274e-06,0,0,0,16056,0,0,0,34566,0,0,0,10064,0,0,0,18394,0,0,0,21624,0,0,1,113346,0,0,0,6102,0,0,0,30608,0,0]
["ZNF460","ENSG00000197714",19,57803552,"rs1365806460","C","A","gnomAD_Exomes","PASS","NA","p.Ser548Ter","p.Ser548Ter","c.1643C>A","stop_gained","segdup,lc_lof",1,250760,3.98787685436274e-06,0,0,1,16056,0,0,0,34566,0,0,0,10064,0,0,0,18394,0,0,0,21624,0,0,0,113346,0,0,0,6102,0,0,0,30608,0,0]
["ZNF460","ENSG00000197714",19,57803469,"rs1201751539","TC","T","gnomAD_Exomes","PASS","NA","p.Gln521AsnfsTer12","p.Gln521AsnfsTer12","c.1561delC","frameshift_variant","segdup,lc_lof",1,251426,3.97731340434164e-06,0,0,0,16256,0,0,0,34590,0,0,0,10080,0,0,1,18394,0,0,0,21648,0,0,0,113704,0,0,0,6138,0,0,0,30616,0,0]
["ZNF473","ENSG00000142528",19,50547916,"rs1431620090","T","A","gnomAD_Genomes","NA","PASS","c.227-11T>A",null,"c.227-11T>A","intron_variant","lc_lof,os_lof",1,31404,3.18430773149917e-05,0,0,0,8710,0,0,0,848,0,0,0,290,0,0,0,1560,0,0,0,3474,0,0,1,15434,0,0,0,1088,0,0,0,0,0,0]
["ZNF473","ENSG00000142528",19,50550019,"rs373004601","TTC","T","gnomAD_Exomes","PASS","NA","p.Ser774TyrfsTer16","p.Ser774TyrfsTer16","c.2321_2322delCT","frameshift_variant","lc_lof",1,251266,3.979846059554419e-06,0,0,1,16254,0,0,0,34590,0,0,0,10074,0,0,0,18394,0,0,0,21648,0,0,0,113568,0,0,0,6134,0,0,0,30604,0,0]
["ZNF473","ENSG00000142528",19,50550221,"rs746517288","CTT","C","gnomAD_Exomes","PASS","NA","p.Tyr842SerfsTer41","p.Tyr842SerfsTer41","c.2523_2524delTT","frameshift_variant","lc_lof",1,251350,3.97851601352695e-06,0,0,0,16234,0,0,0,34590,0,0,0,10078,0,0,0,18390,0,0,0,21604,0,0,1,113704,0,0,0,6134,0,0,0,30616,0,0]
["ZNF484","ENSG00000127081",9,95640171,"rs117360596","C","T","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","c.-94+1G>A",null,"c.-94+1G>A","splice_donor_variant","segdup,lc_lof",2533,161926,0.01564294801329,36,0,71,14806,0,0,264,25146,0,0,32,8382,0,0,2,11996,0,0,235,8852,4,0,1746,65266,29,0,91,5102,2,0,92,22376,1,0]
["ZNF484","ENSG00000127081",9,95618105,"rs1418925980","GAC","G","gnomAD_Exomes","PASS","NA","p.Ser76ThrfsTer19","p.Ser76ThrfsTer19","c.227_228delGT","frameshift_variant","lof_flag",1,251404,3.97766145327839e-06,0,0,0,16256,0,0,0,34588,0,0,0,10080,0,0,0,18394,0,0,0,21642,0,0,1,113698,0,0,0,6134,0,0,0,30612,0,0]
["ZNF484","ENSG00000127081",9,95608527,"rs755525980","G","A","gnomAD_Exomes","PASS","NA","p.Gln850Ter","p.Gln850Ter","c.2548C>T","stop_gained","lc_lof",2,249860,8.00448251020571e-06,0,0,0,16244,0,0,0,34310,0,0,0,9984,0,0,0,18374,0,0,0,21546,0,0,1,112916,0,0,1,6088,0,0,0,30398,0,0]
["ZNF484","ENSG00000127081",9,95608544,"rs1438079482","G","T","gnomAD_Exomes","PASS","NA","p.Ser844Ter","p.Ser844Ter","c.2531C>A","stop_gained","lc_lof",1,250842,3.98657322139036e-06,0,0,0,16256,0,0,0,34466,0,0,0,10050,0,0,0,18392,0,0,0,21596,0,0,0,113444,0,0,0,6112,0,0,1,30526,0,0]
["ZNF484","ENSG00000127081",9,95608540,"rs773926781","TTC","T","gnomAD_Exomes","PASS","NA","p.Glu845ArgfsTer2","p.Glu845ArgfsTer2","c.2533_2534delGA","frameshift_variant","lc_lof",11,250712,4.387504387504391e-05,0,0,0,16254,0,0,0,34458,0,0,0,10044,0,0,0,18392,0,0,0,21594,0,0,0,113370,0,0,0,6108,0,0,11,30492,0,0]
["ZNF57","ENSG00000171970",19,2916172,"rs781242502","G","GA","gnomAD_Exomes","PASS","NA","p.Asn77LysfsTer2","p.Asn77LysfsTer2","c.230dupA","frameshift_variant","segdup,lof_flag",1,251322,3.97895926341506e-06,0,0,0,16248,0,0,0,34568,0,0,0,10078,0,0,0,18392,0,0,1,21648,0,0,0,113648,0,0,0,6132,0,0,0,30608,0,0]
["ZNF57","ENSG00000171970",19,2917465,"rs750170710","T","A","gnomAD_Exomes","PASS","NA","p.Cys282Ter","p.Cys282Ter","c.846T>A","stop_gained","segdup,lc_lof",1,251428,3.97728176654947e-06,0,0,0,16224,0,0,0,34592,0,0,0,10080,0,0,1,18394,0,0,0,21646,0,0,0,113748,0,0,0,6132,0,0,0,30612,0,0]
["ZNF57","ENSG00000171970",19,2917544,"rs1291651843","GA","G","gnomAD_Genomes","NA","PASS","p.Glu309AspfsTer19","p.Glu309AspfsTer19","c.927delA","frameshift_variant","segdup,lc_lof",1,31384,3.1863369869997405e-05,0,0,0,8706,0,0,0,848,0,0,0,290,0,0,0,1556,0,0,0,3474,0,0,1,15422,0,0,0,1088,0,0,0,0,0,0]
["ZNF57","ENSG00000171970",19,2917841,"rs752785540","C","T","gnomAD_Exomes","PASS","NA","p.Arg408Ter","p.Arg408Ter","c.1222C>T","stop_gained","lc_lof",4,251472,1.59063434497678e-05,0,0,0,16254,0,0,1,34592,0,0,0,10080,0,0,0,18394,0,0,0,21648,0,0,3,113752,0,0,0,6136,0,0,0,30616,0,0]
["ZNF57","ENSG00000171970",19,2918080,"rs775434506","G","A","gnomAD_Exomes","PASS","NA","p.Trp487Ter","p.Trp487Ter","c.1461G>A","stop_gained","lc_lof",3,251342,1.1935927938824401e-05,0,0,0,16252,0,0,3,34578,0,0,0,10072,0,0,0,18394,0,0,0,21628,0,0,0,113678,0,0,0,6128,0,0,0,30612,0,0]
["ZNF57","ENSG00000171970",19,2917010,"rs781074690","A","T","gnomAD_Exomes","PASS","NA","p.Lys131Ter","p.Lys131Ter","c.391A>T","stop_gained","lc_lof",1,251412,3.97753488298092e-06,0,0,0,16252,0,0,0,34566,0,0,0,10080,0,0,0,18392,0,0,0,21646,0,0,0,113726,0,0,0,6136,0,0,1,30614,0,0]
["ZNF57","ENSG00000171970",19,2917196,"rs772530848","G","T","gnomAD_Exomes","PASS","NA","p.Glu193Ter","p.Glu193Ter","c.577G>T","stop_gained","lc_lof",1,251422,3.97737668143599e-06,0,0,0,16252,0,0,0,34586,0,0,0,10078,0,0,0,18394,0,0,0,21648,0,0,1,113712,0,0,0,6138,0,0,0,30614,0,0]
["ZNF57","ENSG00000171970",19,2917865,"rs1330590591","G","T","gnomAD_Genomes","NA","PASS","p.Gly416Ter","p.Gly416Ter","c.1246G>T","stop_gained","lc_lof",1,31390,3.18572793883402e-05,0,0,0,8710,0,0,0,848,0,0,0,290,0,0,0,1556,0,0,0,3474,0,0,0,15426,0,0,1,1086,0,0,0,0,0,0]
["ZNF57","ENSG00000171970",19,2917263,"rs752470513","TAA","T","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Lys216AspfsTer18","p.Lys216AspfsTer18","c.646_647delAA","frameshift_variant","lc_lof",3,282818,1.06075285165725e-05,0,0,3,24970,0,0,0,35428,0,0,0,10370,0,0,0,19954,0,0,0,25096,0,0,0,129168,0,0,0,7216,0,0,0,30616,0,0]
["ZNF57","ENSG00000171970",19,2917975,"rs559061011","CTG","C","gnomAD_Exomes","PASS","NA","p.Cys453TrpfsTer24","p.Cys453TrpfsTer24","c.1359_1360delTG","frameshift_variant","lc_lof",2,251398,7.95551277257576e-06,0,0,0,16254,0,0,0,34544,0,0,0,10080,0,0,1,18392,0,0,0,21646,0,0,1,113754,0,0,0,6138,0,0,0,30590,0,0]
["ZNF57","ENSG00000171970",19,2917185,"rs776415059","CT","C","gnomAD_Exomes","PASS","NA","p.Asp190ThrfsTer26","p.Asp190ThrfsTer26","c.567delT","frameshift_variant","lc_lof",1,251394,3.97781967747838e-06,0,0,0,16246,0,0,0,34586,0,0,0,10080,0,0,0,18394,0,0,0,21648,0,0,1,113690,0,0,0,6136,0,0,0,30614,0,0]
["ZNF57","ENSG00000171970",19,2917421,"rs757252394","C","CA","gnomAD_Exomes","PASS","NA","p.Arg269LysfsTer13","p.Arg269LysfsTer13","c.805dupA","frameshift_variant","lc_lof",1,251424,3.97734504263714e-06,0,0,0,16244,0,0,0,34588,0,0,0,10080,0,0,0,18392,0,0,0,21646,0,0,1,113724,0,0,0,6134,0,0,0,30616,0,0]
["ZNF57","ENSG00000171970",19,2917621,"rs1156767085","ACT","A","gnomAD_Exomes","PASS","NA","p.Tyr336Ter","p.Tyr336Ter","c.1005_1006delCT","frameshift_variant","lc_lof",1,251396,3.97778803163137e-06,0,0,0,16254,0,0,1,34580,0,0,0,10080,0,0,0,18394,0,0,0,21644,0,0,0,113694,0,0,0,6134,0,0,0,30616,0,0]
["ZNF57","ENSG00000171970",19,2918062,"rs1275805454","T","TG","gnomAD_Exomes","PASS","NA","p.Thr484AsnfsTer10","p.Thr484AsnfsTer10","c.1445dupG","frameshift_variant","lc_lof",1,251348,3.97854767095819e-06,0,0,0,16256,0,0,0,34582,0,0,0,10072,0,0,0,18394,0,0,0,21630,0,0,0,113674,0,0,0,6130,0,0,1,30610,0,0]
["ZNF57","ENSG00000171970",19,2918069,"rs1222961209","AC","A","gnomAD_Exomes","PASS","NA","p.Phe485SerfsTer11","p.Phe485SerfsTer11","c.1452delC","frameshift_variant","lc_lof",1,251290,3.9794659556687495e-06,0,0,0,16252,0,0,1,34572,0,0,0,10068,0,0,0,18394,0,0,0,21620,0,0,0,113652,0,0,0,6122,0,0,0,30610,0,0]
["ZNF57","ENSG00000171970",19,2918133,"rs571606142","AAT","A","gnomAD_Exomes","PASS","NA","p.Cys506Ter","p.Cys506Ter","c.1515_1516delAT","frameshift_variant","lc_lof",1,251442,3.97706031609675e-06,0,0,0,16256,0,0,0,34586,0,0,0,10078,0,0,1,18394,0,0,0,21646,0,0,0,113730,0,0,0,6138,0,0,0,30614,0,0]
["ZNF57","ENSG00000171970",19,2918167,"rs772137368","CT","C","gnomAD_Exomes","PASS","NA","p.Ser517ProfsTer7","p.Ser517ProfsTer7","c.1549delT","frameshift_variant","lc_lof",1,251452,3.97690215229944e-06,0,0,0,16256,0,0,1,34588,0,0,0,10080,0,0,0,18392,0,0,0,21648,0,0,0,113736,0,0,0,6138,0,0,0,30614,0,0]
["ZNF57","ENSG00000171970",19,2918179,"rs1301807084","GA","G","gnomAD_Exomes","PASS","NA","p.Asn521ThrfsTer3","p.Asn521ThrfsTer3","c.1562delA","frameshift_variant","lc_lof",1,251436,3.97715522041394e-06,0,0,0,16252,0,0,1,34584,0,0,0,10078,0,0,0,18394,0,0,0,21648,0,0,0,113726,0,0,0,6140,0,0,0,30614,0,0]
["ZNF57","ENSG00000171970",19,2918216,"rs763796991","G","GA","gnomAD_Exomes","PASS","NA","p.Cys534MetfsTer16","p.Cys534MetfsTer16","c.1599dupA","frameshift_variant","lc_lof",1,251186,3.98111359709538e-06,0,0,0,16240,0,0,0,34542,0,0,0,10052,0,0,0,18392,0,0,0,21634,0,0,1,113614,0,0,0,6128,0,0,0,30584,0,0]
["ZNF57","ENSG00000171970",19,2918228,"rs1426982603","TACTC","T","gnomAD_Exomes","PASS","NA","p.Tyr537Ter","p.Tyr537Ter","c.1611_1614delCTCA","frameshift_variant","lc_lof",1,250730,3.9883540063016005e-06,0,0,0,16216,0,0,0,34462,0,0,0,10024,0,0,0,18388,0,0,0,21628,0,0,1,113386,0,0,0,6118,0,0,0,30508,0,0]
["ZNF57","ENSG00000171970",19,2918099,"rs776727545","CAT","C","gnomAD_Genomes","NA","PASS","p.His494ArgfsTer13","p.His494ArgfsTer13","c.1481_1482delAT","frameshift_variant","lc_lof",1,31414,3.1832940727064406e-05,0,0,0,8716,0,0,0,848,0,0,0,290,0,0,1,1560,0,0,0,3476,0,0,0,15436,0,0,0,1088,0,0,0,0,0,0]
["ZNF57","ENSG00000171970",19,2918186,"rs748752577","C","CT","gnomAD_Genomes","NA","PASS","p.Arg524GlufsTer26","p.Arg524GlufsTer26","c.1568dupT","frameshift_variant","lc_lof",1,31412,3.18349675283331e-05,0,0,0,8718,0,0,0,848,0,0,0,290,0,0,0,1560,0,0,0,3474,0,0,1,15434,0,0,0,1088,0,0,0,0,0,0]
["ZNF613","ENSG00000176024",19,52443874,"rs1405887614","T","A","gnomAD_Exomes","PASS","NA","p.Tyr49Ter","p.Tyr49Ter","c.147T>A","stop_gained","segdup,lof_flag",1,249472,4.00846587993843e-06,0,0,0,16220,0,0,0,34332,0,0,0,9926,0,0,0,18356,0,0,0,21518,0,0,0,112694,0,0,0,6074,0,0,1,30352,0,0]
["ZNF613","ENSG00000176024",19,52443888,"rs1177219897","C","CT","gnomAD_Genomes","NA","PASS","p.Asp55ArgfsTer17","p.Asp55ArgfsTer17","c.161_162insT","frameshift_variant","segdup,lof_flag",1,31386,3.1861339450710506e-05,0,0,1,8704,0,0,0,846,0,0,0,290,0,0,0,1558,0,0,0,3474,0,0,0,15428,0,0,0,1086,0,0,0,0,0,0]
["ZNF613","ENSG00000176024",19,52443881,"rs1273895569","AGCAAACCAGAT","A","gnomAD_Exomes","PASS","NA","p.Lys53ThrfsTer15","p.Lys53ThrfsTer15","c.158_168delAACCAGATGCA","frameshift_variant","segdup,lof_flag",1,250100,3.9984006397441e-06,0,0,0,16232,0,0,0,34366,0,0,0,9986,0,0,0,18362,0,0,0,21572,0,0,0,113050,0,0,0,6088,0,0,1,30444,0,0]
["ZNF613","ENSG00000176024",19,52448907,"rs144750862","C","T","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Gln591Ter","p.Gln591Ter","c.1771C>T","stop_gained","segdup,lc_lof",7,281654,2.4853188664105603e-05,0,0,1,24956,0,0,1,35424,0,0,0,10360,0,0,0,19954,0,0,0,25122,0,0,5,128010,0,0,0,7216,0,0,0,30612,0,0]
["ZNF613","ENSG00000176024",19,52448661,"rs751605455","G","T","gnomAD_Exomes","PASS","NA","p.Glu509Ter","p.Glu509Ter","c.1525G>T","stop_gained","segdup,lc_lof",1,251332,3.9788009485461495e-06,0,0,0,16256,0,0,0,34582,0,0,0,10072,0,0,0,18394,0,0,0,21624,0,0,0,113662,0,0,0,6132,0,0,1,30610,0,0]
["ZNF613","ENSG00000176024",19,52448981,"rs774517399","C","A","gnomAD_Exomes","PASS","NA","p.Cys615Ter","p.Cys615Ter","c.1845C>A","stop_gained","segdup,lc_lof",1,248946,4.0169353996449e-06,0,0,0,16226,0,0,1,34568,0,0,0,10058,0,0,0,18388,0,0,0,21602,0,0,0,111386,0,0,0,6112,0,0,0,30606,0,0]
["ZNF613","ENSG00000176024",19,52448669,"rs11880193","G","GT","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Tyr512LeufsTer5","p.Tyr512LeufsTer5","c.1534dupT","frameshift_variant","segdup,lc_lof",14,282626,4.95354284460736e-05,0,0,0,24944,0,0,0,35430,0,0,0,10360,0,0,0,19946,0,0,0,25100,0,0,2,129012,0,0,0,7224,0,0,12,30610,0,0]
["ZNF613","ENSG00000176024",19,52448889,"rs1000726756","TTAAC","T","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Asn587ValfsTer9","p.Asn587ValfsTer9","c.1758_1761delTAAC","frameshift_variant","segdup,lc_lof",43,282048,0.000152456319492,0,0,20,24968,0,0,3,35420,0,0,0,10358,0,0,12,19948,0,0,0,25122,0,0,7,128408,0,0,1,7214,0,0,0,30610,0,0]
["ZNF613","ENSG00000176024",19,52448897,"rs767056795","CAG","C","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Ser588CysfsTer24","p.Ser588CysfsTer24","c.1762_1763delAG","frameshift_variant","segdup,lc_lof",4,281764,1.4196277735977602e-05,0,0,1,24954,0,0,0,35416,0,0,0,10356,0,0,0,19952,0,0,0,25116,0,0,3,128140,0,0,0,7218,0,0,0,30612,0,0]
["ZNF613","ENSG00000176024",19,52448869,"rs770014255","CT","C","gnomAD_Exomes","PASS","NA","p.Val579TrpfsTer7","p.Val579TrpfsTer7","c.1734delT","frameshift_variant","segdup,lc_lof",2,250812,7.97410012280114e-06,0,0,0,16252,0,0,0,34558,0,0,0,10072,0,0,0,18394,0,0,0,21634,0,0,0,113160,0,0,0,6132,0,0,2,30610,0,0]
["ZNF613","ENSG00000176024",19,52448888,"rs759778228","A","AT","gnomAD_Exomes","PASS","NA","p.Leu585PhefsTer3","p.Leu585PhefsTer3","c.1754dupT","frameshift_variant","segdup,lc_lof",1,250634,3.98988166010996e-06,0,0,0,16254,0,0,0,34572,0,0,0,10068,0,0,0,18394,0,0,0,21644,0,0,1,112966,0,0,0,6126,0,0,0,30610,0,0]
["ZNF613","ENSG00000176024",19,52448895,"rs761351598","AAC","A","gnomAD_Exomes","PASS","NA","p.Asn587LysfsTer25","p.Asn587LysfsTer25","c.1761_1762delCA","frameshift_variant","segdup,lc_lof",4,250546,1.59651321513814e-05,0,0,0,16250,0,0,0,34578,0,0,3,10070,0,0,0,18394,0,0,0,21644,0,0,1,112870,0,0,0,6128,0,0,0,30612,0,0]
["ZNF613","ENSG00000176024",19,52448983,"rs370459566","CA","C","gnomAD_Exomes","PASS","NA","p.Glu617AsnfsTer30","p.Glu617AsnfsTer30","c.1848delA","frameshift_variant","segdup,lc_lof",1,248954,4.01680631763298e-06,0,0,0,16224,0,0,0,34562,0,0,0,10062,0,0,1,18388,0,0,0,21606,0,0,0,111394,0,0,0,6112,0,0,0,30606,0,0]
["ZNF623","ENSG00000183309",8,144733513,"rs1291812421","C","T","gnomAD_Genomes","NA","PASS","p.Gln491Ter","p.Gln491Ter","c.1471C>T","stop_gained","lc_lof",1,31398,3.18491623670297e-05,0,0,1,8714,0,0,0,848,0,0,0,290,0,0,0,1558,0,0,0,3474,0,0,0,15428,0,0,0,1086,0,0,0,0,0,0]
["ZNF623","ENSG00000183309",8,144732066,"rs751830534","A","G","gnomAD_Exomes","PASS","NA","c.-95-2A>G",null,"c.-95-2A>G","splice_acceptor_variant","lc_lof",4,247454,1.6164620495122304e-05,0,0,0,16190,0,0,3,33474,0,0,0,9758,0,0,0,18266,0,0,0,21548,0,0,1,112280,0,0,0,5964,0,0,0,29974,0,0]
["ZNF623","ENSG00000183309",8,144732067,"rs757663460","G","T","gnomAD_Exomes","PASS","NA","c.-95-1G>T",null,"c.-95-1G>T","splice_acceptor_variant","lc_lof",1,247318,4.043377352234779e-06,0,0,0,16188,0,0,0,33436,0,0,0,9770,0,0,0,18244,0,0,0,21544,0,0,1,112244,0,0,0,5994,0,0,0,29898,0,0]
["ZNF623","ENSG00000183309",8,144733554,"rs755869231","TAATC","T","gnomAD_Exomes","PASS","NA","p.Asn505LysfsTer10","p.Asn505LysfsTer10","c.1515_1518delTCAA","frameshift_variant","lc_lof",10,251322,3.9789592634150604e-05,0,0,1,16236,0,0,4,34548,0,0,0,10080,0,0,0,18394,0,0,0,21642,0,0,4,113682,0,0,0,6134,0,0,1,30606,0,0]
["ZNF623","ENSG00000183309",8,144733647,"rs779806400","CTT","C","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Leu536IlefsTer3","p.Leu536IlefsTer3","c.1606_1607delTT","frameshift_variant","lc_lof",2,234290,8.53642921166076e-06,0,0,2,24148,0,0,0,23914,0,0,0,6142,0,0,0,17786,0,0,0,22168,0,0,0,113516,0,0,0,5736,0,0,0,20880,0,0]
["ZNF668","ENSG00000167394",16,31073010,"rs753443157","G","A","gnomAD_Exomes","PASS","NA","p.Trp66Ter","p.Trp66Ter","c.198G>A","stop_gained","lof_flag",4,250076,1.5995137478206603e-05,0,0,0,16168,0,0,0,34552,0,0,0,10060,0,0,0,18184,0,0,0,21326,0,0,4,113088,0,0,0,6100,0,0,0,30598,0,0]
["ZNF668","ENSG00000167394",16,31073178,"rs760739184","C","A","gnomAD_Exomes","PASS","NA","p.Cys122Ter","p.Cys122Ter","c.366C>A","stop_gained","lof_flag",3,246780,1.2156576707999002e-05,0,0,0,15526,0,0,0,34430,0,0,0,9964,0,0,0,17900,0,0,0,21428,0,0,2,110984,0,0,0,6040,0,0,1,30508,0,0]
["ZNF668","ENSG00000167394",16,31073005,"rs1195374886","C","T","gnomAD_Exomes","PASS","NA","p.Arg65Ter","p.Arg65Ter","c.193C>T","stop_gained","lof_flag",1,250008,3.99987200409587e-06,0,0,1,16128,0,0,0,34550,0,0,0,10058,0,0,0,18196,0,0,0,21328,0,0,0,113044,0,0,0,6104,0,0,0,30600,0,0]
["ZNF668","ENSG00000167394",16,31073073,"rs1223099382","G","A","gnomAD_Exomes","PASS","NA","p.Trp87Ter","p.Trp87Ter","c.261G>A","stop_gained","lof_flag",1,249384,4.0098803451705e-06,0,0,1,16110,0,0,0,34520,0,0,0,10044,0,0,0,18056,0,0,0,21230,0,0,0,112746,0,0,0,6088,0,0,0,30590,0,0]
["ZNF668","ENSG00000167394",16,31073325,"rs1197508461","G","A","gnomAD_Exomes","PASS","NA","p.Trp171Ter","p.Trp171Ter","c.513G>A","stop_gained","lof_flag",1,249702,4.00477369023877e-06,0,0,0,16034,0,0,0,34518,0,0,0,10006,0,0,0,18282,0,0,0,21526,0,0,1,112648,0,0,0,6084,0,0,0,30604,0,0]
["ZNF668","ENSG00000167394",16,31073358,"rs755022494","G","A","gnomAD_Exomes","PASS","NA","p.Trp182Ter","p.Trp182Ter","c.546G>A","stop_gained","lof_flag",1,249642,4.00573621425882e-06,0,0,0,16050,0,0,0,34524,0,0,0,10030,0,0,0,18316,0,0,0,21528,0,0,1,112498,0,0,0,6094,0,0,0,30602,0,0]
["ZNF668","ENSG00000167394",16,31073589,"rs377501602","G","A","gnomAD_Exomes","PASS","NA","p.Arg60Ter","p.Arg60Ter","c.178C>T","stop_gained","lof_flag",1,237354,4.21311627358292e-06,0,0,0,15478,0,0,0,33738,0,0,0,9124,0,0,0,17882,0,0,0,18442,0,0,0,107846,0,0,0,5770,0,0,1,29074,0,0]
["ZNF668","ENSG00000167394",16,31075916,"rs759496694","GC","G","gnomAD_Exomes","PASS","NA","p.Gly8AlafsTer72","p.Gly8AlafsTer72","c.23delG","frameshift_variant","lof_flag",2,147810,1.35308842432853e-05,0,0,0,7438,0,0,0,25136,0,0,0,8492,0,0,0,11326,0,0,0,6086,0,0,2,60896,0,0,0,4432,0,0,0,24004,0,0]
["ZNF668","ENSG00000167394",16,31075899,"rs745373935","ACC","A","gnomAD_Exomes","PASS","NA","p.Trp13CysfsTer61","p.Trp13CysfsTer61","c.39_40delGG","frameshift_variant","lof_flag",1,166564,6.00369827813933e-06,0,0,0,8882,0,0,0,26846,0,0,0,8712,0,0,0,12724,0,0,0,7066,0,0,1,71958,0,0,0,4776,0,0,0,25600,0,0]
["ZNF668","ENSG00000167394",16,31075907,"rs1297590462","ATCCT","A","gnomAD_Exomes","PASS","NA","p.Lys10MetfsTer69","p.Lys10MetfsTer69","c.29_32delAGGA","frameshift_variant","lof_flag",1,156346,6.396070254435669e-06,0,0,0,8092,0,0,1,25824,0,0,0,8598,0,0,0,11896,0,0,0,6540,0,0,0,66022,0,0,0,4602,0,0,0,24772,0,0]
["ZNF668","ENSG00000167394",16,31076222,"rs963731412","GA","G","gnomAD_Genomes","NA","PASS","c.-68+2delT",null,"c.-68+2delT","splice_donor_variant","lc_lof",64,31402,0.002038086746067,1,0,64,8712,1,0,0,848,0,0,0,290,0,0,0,1558,0,0,0,3474,0,0,0,15432,0,0,0,1088,0,0,0,0,0,0]
["ZNF691","ENSG00000164011",1,43316364,"rs1458644407","C","T","gnomAD_Exomes","PASS","NA","p.Gln3Ter","p.Gln3Ter","c.7C>T","stop_gained","lof_flag",1,149804,6.675389175188909e-06,0,0,0,6810,0,0,0,24580,0,0,0,8398,0,0,0,10818,0,0,0,16818,0,0,0,55516,0,0,0,4326,0,0,1,22538,0,0]
["ZNF691","ENSG00000164011",1,43315335,"rs772311608","ACT","A","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Cys4PhefsTer7","p.Cys4PhefsTer7","c.9_10delCT","frameshift_variant","lof_flag",8,182812,4.376080344835131e-05,0,0,5,15860,0,0,2,25494,0,0,0,8712,0,0,0,12342,0,0,0,20544,0,0,1,71794,0,0,0,5530,0,0,0,22536,0,0]
["ZNF691","ENSG00000164011",1,43316412,"rs1352277796","CT","C","gnomAD_Exomes","PASS","NA","p.Leu19ArgfsTer72","p.Leu19ArgfsTer72","c.56delT","frameshift_variant","lof_flag",2,150214,1.33143382108192e-05,0,0,2,6872,0,0,0,24626,0,0,0,8408,0,0,0,10874,0,0,0,16832,0,0,0,55716,0,0,0,4340,0,0,0,22546,0,0]
["ZNF691","ENSG00000164011",1,43315382,"rs1304424016","GC","G","gnomAD_Exomes","PASS","NA","p.Pro19ArgfsTer81","p.Pro19ArgfsTer81","c.56delC","frameshift_variant","lof_flag",1,151396,6.6051943248170396e-06,0,0,0,7150,0,0,0,24638,0,0,0,8420,0,0,0,10788,0,0,0,17058,0,0,1,56366,0,0,0,4440,0,0,0,22536,0,0]
["ZNF691","ENSG00000164011",1,43316591,"rs774081787","A","G","gnomAD_Exomes","PASS","NA","c.58-3A>G",null,"c.58-3A>G","splice_region_variant","lc_lof,os_lof",1,183742,5.442413819377169e-06,0,0,0,15304,0,0,0,22966,0,0,0,4074,0,0,0,16174,0,0,0,17494,0,0,1,87728,0,0,0,4260,0,0,0,15742,0,0]
["ZNF691","ENSG00000164011",1,43317461,"rs567618547","C","T","gnomAD_Exomes","PASS","NA","p.Gln309Ter","p.Gln309Ter","c.925C>T","stop_gained","lc_lof",2,249974,8.000832086537e-06,0,0,0,15626,0,0,0,34566,0,0,0,10050,0,0,0,18380,0,0,0,21634,0,0,0,113012,0,0,0,6098,0,0,2,30608,0,0]
["ZNF691","ENSG00000164011",1,43314960,"rs751479909","A","G","gnomAD_Genomes","NA","PASS","c.-368-2A>G",null,"c.-368-2A>G","splice_acceptor_variant","lc_lof",1,31400,3.18471337579618e-05,0,0,1,8716,0,0,0,848,0,0,0,290,0,0,0,1560,0,0,0,3476,0,0,0,15422,0,0,0,1088,0,0,0,0,0,0]
["ZNF691","ENSG00000164011",1,43317420,"rs1447307901","G","GCT","gnomAD_Exomes","PASS","NA","p.Asn297ArgfsTer28","p.Asn297ArgfsTer28","c.886_887dupTC","frameshift_variant","lc_lof",1,251322,3.97895926341506e-06,0,0,0,16224,0,0,0,34582,0,0,0,10078,0,0,0,18390,0,0,0,21638,0,0,1,113664,0,0,0,6132,0,0,0,30614,0,0]
["ZNF799","ENSG00000196466",19,12504113,"rs764236987","A","T","gnomAD_Genomes","NA","PASS","p.Cys82Ter","p.Cys82Ter","c.246T>A","stop_gained","segdup,lof_flag",1,21846,4.5774970246269306e-05,0,0,1,6290,0,0,0,710,0,0,0,202,0,0,0,1354,0,0,0,2876,0,0,0,9636,0,0,0,778,0,0,0,0,0,0]
["ZNF799","ENSG00000196466",19,12508966,"rs768830026","G","A","gnomAD_Genomes","NA","PASS","p.Arg35Ter","p.Arg35Ter","c.103C>T","stop_gained","segdup,lof_flag",2,31226,6.40491897777493e-05,0,0,0,8696,0,0,1,846,0,0,0,284,0,0,0,1560,0,0,0,3414,0,0,1,15344,0,0,0,1082,0,0,0,0,0,0]
["ZNF799","ENSG00000196466",19,12509055,"rs1233843889","AGAGT","A","gnomAD_Genomes","NA","PASS","p.Thr4CysfsTer32","p.Thr4CysfsTer32","c.10_13delACTC","frameshift_variant","segdup,lof_flag",13,30522,0.00042592228556500005,0,0,1,8476,0,0,0,822,0,0,0,288,0,0,0,1536,0,0,0,3348,0,0,12,15010,0,0,0,1042,0,0,0,0,0,0]
["ZNF799","ENSG00000196466",19,12501483,"rs765502791","C","A","gnomAD_Exomes","PASS","NA","p.Gly577Ter","p.Gly577Ter","c.1729G>T","stop_gained","segdup,lc_lof",1,250758,3.98790866094003e-06,0,0,0,16048,0,0,0,34576,0,0,0,10066,0,0,0,18392,0,0,0,21618,0,0,0,113360,0,0,0,6094,0,0,1,30604,0,0]
["ZNF799","ENSG00000196466",19,12501567,"rs752382976","G","A","gnomAD_Exomes","PASS","NA","p.Arg549Ter","p.Arg549Ter","c.1645C>T","stop_gained","segdup,lc_lof",8,250672,3.1914214591178905e-05,0,0,0,15814,0,0,2,34592,0,0,0,10072,0,0,0,18394,0,0,0,21644,0,0,6,113458,0,0,0,6090,0,0,0,30608,0,0]
["ZNF799","ENSG00000196466",19,12501784,"rs1358400488","A","T","gnomAD_Exomes","PASS","NA","p.Tyr476Ter","p.Tyr476Ter","c.1428T>A","stop_gained","segdup,lc_lof",1,250942,3.9849845781096795e-06,0,0,0,16040,0,0,0,34582,0,0,0,10074,0,0,0,18394,0,0,0,21630,0,0,0,113520,0,0,0,6096,0,0,1,30606,0,0]
["ZNF799","ENSG00000196466",19,12501957,"rs372293608","T","A","gnomAD_Exomes","PASS","NA","p.Lys419Ter","p.Lys419Ter","c.1255A>T","stop_gained","segdup,lc_lof",1,251362,3.97832607951878e-06,0,0,0,16222,0,0,0,34590,0,0,0,10080,0,0,0,18394,0,0,0,21636,0,0,1,113702,0,0,0,6128,0,0,0,30610,0,0]
["ZNF799","ENSG00000196466",19,12502071,"rs751975853","G","A","gnomAD_Exomes","PASS","NA","p.Arg381Ter","p.Arg381Ter","c.1141C>T","stop_gained","segdup,lc_lof",3,251476,1.1929567831522701e-05,0,0,0,16256,0,0,0,34592,0,0,0,10080,0,0,0,18394,0,0,0,21648,0,0,3,113752,0,0,0,6138,0,0,0,30616,0,0]
["ZNF799","ENSG00000196466",19,12502079,"rs1478713880","G","C","gnomAD_Exomes","PASS","NA","p.Ser378Ter","p.Ser378Ter","c.1133C>G","stop_gained","segdup,lc_lof",1,251482,3.97642773637875e-06,0,0,0,16256,0,0,0,34592,0,0,0,10080,0,0,0,18394,0,0,0,21648,0,0,1,113758,0,0,0,6140,0,0,0,30614,0,0]
["ZNF799","ENSG00000196466",19,12502194,"rs750913406","T","A","gnomAD_Exomes","PASS","NA","p.Lys340Ter","p.Lys340Ter","c.1018A>T","stop_gained","segdup,lc_lof",1,251456,3.97683889030288e-06,0,0,0,16254,0,0,0,34590,0,0,0,10080,0,0,1,18394,0,0,0,21648,0,0,0,113738,0,0,0,6136,0,0,0,30616,0,0]
["ZNF799","ENSG00000196466",19,12502452,"rs752438094","C","A","gnomAD_Exomes","PASS","NA","p.Glu254Ter","p.Glu254Ter","c.760G>T","stop_gained","segdup,lc_lof",1,251046,3.98333373166671e-06,0,0,0,16088,0,0,0,34580,0,0,0,10074,0,0,0,18394,0,0,0,21628,0,0,1,113568,0,0,0,6106,0,0,0,30608,0,0]
["ZNF799","ENSG00000196466",19,12502531,"rs759448976","A","T","gnomAD_Exomes","PASS","NA","p.Cys227Ter","p.Cys227Ter","c.681T>A","stop_gained","segdup,lc_lof",1,251210,3.98073325106485e-06,0,0,0,16144,0,0,0,34590,0,0,0,10078,0,0,0,18394,0,0,0,21642,0,0,0,113632,0,0,0,6120,0,0,1,30610,0,0]
["ZNF799","ENSG00000196466",19,12502734,"rs745931692","C","A","gnomAD_Exomes","PASS","NA","p.Glu160Ter","p.Glu160Ter","c.478G>T","stop_gained","segdup,lc_lof",1,251438,3.97712358513829e-06,0,0,0,16240,0,0,0,34590,0,0,0,10080,0,0,0,18394,0,0,0,21646,0,0,0,113742,0,0,0,6132,0,0,1,30614,0,0]
["ZNF799","ENSG00000196466",19,12502819,"rs1318561758","A","C","gnomAD_Exomes","PASS","NA","p.Tyr131Ter","p.Tyr131Ter","c.393T>G","stop_gained","segdup,lc_lof",1,251408,3.97759816712276e-06,0,0,0,16254,0,0,0,34586,0,0,0,10080,0,0,0,18394,0,0,0,21628,0,0,0,113722,0,0,0,6132,0,0,1,30612,0,0]
["ZNF799","ENSG00000196466",19,12501339,"rs1437322742","C","A","gnomAD_Genomes","NA","PASS","p.Glu625Ter","p.Glu625Ter","c.1873G>T","stop_gained","segdup,lc_lof",1,31392,3.1855249745158005e-05,0,0,0,8706,0,0,0,848,0,0,0,290,0,0,0,1560,0,0,0,3476,0,0,1,15424,0,0,0,1088,0,0,0,0,0,0]
["ZNF799","ENSG00000196466",19,12501903,"rs779319756","G","A","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Arg437Ter","p.Arg437Ter","c.1309C>T","stop_gained","segdup,lc_lof",10,282600,3.53857041755131e-05,0,0,3,24872,0,0,3,35434,0,0,0,10368,0,0,0,19952,0,0,0,25110,0,0,3,129046,0,0,0,7210,0,0,1,30608,0,0]
["ZNF799","ENSG00000196466",19,12502160,"rs753016208","G","C","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Ser351Ter","p.Ser351Ter","c.1052C>G","stop_gained","segdup,lc_lof",2,282826,7.071485648419879e-06,0,0,0,24952,0,0,0,35438,0,0,0,10370,0,0,0,19952,0,0,0,25118,0,0,1,129164,0,0,0,7220,0,0,1,30612,0,0]
["ZNF799","ENSG00000196466",19,12502323,"rs200827356","G","A","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Arg297Ter","p.Arg297Ter","c.889C>T","stop_gained","segdup,lc_lof",20,282762,7.073086199701521e-05,0,0,0,24964,0,0,6,35432,0,0,0,10368,0,0,4,19952,0,0,0,25106,0,0,8,129110,0,0,1,7218,0,0,1,30612,0,0]
["ZNF799","ENSG00000196466",19,12501570,"rs1355281442","GA","G","gnomAD_Exomes","PASS","NA","p.Leu548TyrfsTer8","p.Leu548TyrfsTer8","c.1641delT","frameshift_variant","segdup,lc_lof",1,250618,3.99013638286157e-06,0,0,0,15782,0,0,0,34588,0,0,0,10072,0,0,0,18394,0,0,1,21646,0,0,0,113444,0,0,0,6082,0,0,0,30610,0,0]
["ZNF799","ENSG00000196466",19,12501618,"rs1472312715","ACG","A","gnomAD_Exomes","PASS","NA","p.Pro531LeufsTer2","p.Pro531LeufsTer2","c.1592_1593delCG","frameshift_variant","segdup,lc_lof",1,250596,3.99048667975546e-06,0,0,0,15774,0,0,1,34580,0,0,0,10072,0,0,0,18394,0,0,0,21646,0,0,0,113440,0,0,0,6082,0,0,0,30608,0,0]
["ZNF799","ENSG00000196466",19,12501629,"rs1336349432","CCA","C","gnomAD_Exomes","PASS","NA","p.Gly528ArgfsTer5","p.Gly528ArgfsTer5","c.1581_1582delTG","frameshift_variant","segdup,lc_lof",1,250646,3.98969063938782e-06,0,0,0,15820,0,0,0,34580,0,0,0,10072,0,0,0,18394,0,0,0,21642,0,0,1,113444,0,0,0,6084,0,0,0,30610,0,0]
["ZNF799","ENSG00000196466",19,12501636,"rs768011062","GAATTCTTTCATGTACTTTTA","G","gnomAD_Exomes","PASS","NA","p.Leu519SerfsTer8","p.Leu519SerfsTer8","c.1556_1575delTAAAAGTACATGAAAGAATT","frameshift_variant","segdup,lc_lof",3,250704,1.19663028910588e-05,0,0,0,15872,0,0,0,34582,0,0,0,10072,0,0,0,18392,0,0,0,21642,0,0,0,113450,0,0,0,6084,0,0,3,30610,0,0]
["ZNF799","ENSG00000196466",19,12501650,"rs1381183609","AC","A","gnomAD_Exomes","PASS","NA","p.Val521TyrfsTer35","p.Val521TyrfsTer35","c.1561delG","frameshift_variant","segdup,lc_lof",1,250850,3.98644608331672e-06,0,0,0,15946,0,0,0,34586,0,0,0,10074,0,0,0,18394,0,0,0,21638,0,0,0,113508,0,0,0,6094,0,0,1,30610,0,0]
["ZNF799","ENSG00000196466",19,12501687,"rs1478384683","ATG","A","gnomAD_Exomes","PASS","NA","p.Thr508MetfsTer2","p.Thr508MetfsTer2","c.1523_1524delCA","frameshift_variant","segdup,lc_lof",1,251122,3.9821282085997995e-06,0,0,0,16114,0,0,0,34588,0,0,0,10074,0,0,0,18392,0,0,0,21636,0,0,1,113602,0,0,0,6106,0,0,0,30610,0,0]
["ZNF799","ENSG00000196466",19,12501714,"rs754532929","CTG","C","gnomAD_Exomes","PASS","NA","p.Thr499ArgfsTer6","p.Thr499ArgfsTer6","c.1496_1497delCA","frameshift_variant","segdup,lc_lof",2,251098,7.96501764251408e-06,0,0,0,16134,0,0,0,34576,0,0,0,10070,0,0,0,18394,0,0,0,21622,0,0,2,113596,0,0,0,6100,0,0,0,30606,0,0]
["ZNF799","ENSG00000196466",19,12501743,"rs759506386","TA","T","gnomAD_Exomes","PASS","NA","p.Tyr490ThrfsTer30","p.Tyr490ThrfsTer30","c.1468delT","frameshift_variant","segdup,lc_lof",1,251092,3.98260398579007e-06,0,0,0,16152,0,0,0,34570,0,0,0,10068,0,0,1,18394,0,0,0,21614,0,0,0,113586,0,0,0,6102,0,0,0,30606,0,0]
["ZNF799","ENSG00000196466",19,12501817,"rs747782789","A","AT","gnomAD_Exomes","PASS","NA","p.Asn465LysfsTer13","p.Asn465LysfsTer13","c.1394dupA","frameshift_variant","segdup,lc_lof",2,250600,7.98084596967279e-06,0,0,0,15820,0,0,0,34584,0,0,0,10070,0,0,0,18392,0,0,0,21646,0,0,2,113398,0,0,0,6082,0,0,0,30608,0,0]
["ZNF799","ENSG00000196466",19,12501866,"rs758077310","TA","T","gnomAD_Exomes","PASS","NA","p.Tyr449IlefsTer71","p.Tyr449IlefsTer71","c.1345delT","frameshift_variant","segdup,lc_lof",9,250832,3.5880589398481805e-05,0,0,0,15936,0,0,0,34580,0,0,0,10074,0,0,9,18394,0,0,0,21642,0,0,0,113500,0,0,0,6098,0,0,0,30608,0,0]
["ZNF799","ENSG00000196466",19,12501894,"rs777745732","CA","C","gnomAD_Exomes","PASS","NA","p.His439GlnfsTer81","p.His439GlnfsTer81","c.1317delT","frameshift_variant","segdup,lc_lof",1,251116,3.98222335494353e-06,0,0,1,16110,0,0,0,34586,0,0,0,10078,0,0,0,18394,0,0,0,21636,0,0,0,113580,0,0,0,6120,0,0,0,30612,0,0]
["ZNF799","ENSG00000196466",19,12501914,"rs746755456","GA","G","gnomAD_Exomes","PASS","NA","p.Ser433ProfsTer87","p.Ser433ProfsTer87","c.1297delT","frameshift_variant","segdup,lc_lof",1,251228,3.9804480392313e-06,0,0,0,16176,0,0,0,34586,0,0,0,10076,0,0,0,18394,0,0,0,21632,0,0,0,113630,0,0,0,6124,0,0,1,30610,0,0]
["ZNF799","ENSG00000196466",19,12501964,"rs770783358","AGT","A","gnomAD_Exomes","PASS","NA","p.Thr416CysfsTer6","p.Thr416CysfsTer6","c.1246_1247delAC","frameshift_variant","segdup,lc_lof",2,251382,7.95601912626998e-06,0,0,2,16228,0,0,0,34592,0,0,0,10080,0,0,0,18394,0,0,0,21634,0,0,0,113710,0,0,0,6132,0,0,0,30612,0,0]
["ZNF799","ENSG00000196466",19,12502028,"rs1491138575","CAT","C","gnomAD_Exomes","PASS","NA","p.Cys395GlnfsTer17","p.Cys395GlnfsTer17","c.1182_1183delAT","frameshift_variant","segdup,lc_lof",8,251460,3.18142050425515e-05,0,0,0,16252,0,0,0,34592,0,0,0,10080,0,0,0,18394,0,0,1,21646,0,0,7,113748,0,0,0,6134,0,0,0,30614,0,0]
["ZNF799","ENSG00000196466",19,12502083,"rs757555721","TATGAG","T","gnomAD_Exomes","PASS","NA","p.Ser375Ter","p.Ser375Ter","c.1124_1128delCTCAT","frameshift_variant","segdup,lc_lof",2,251482,7.952855472757489e-06,0,0,0,16256,0,0,0,34592,0,0,0,10080,0,0,0,18394,0,0,0,21648,0,0,0,113758,0,0,0,6138,0,0,2,30616,0,0]
["ZNF799","ENSG00000196466",19,12502118,"rs1224208023","TAG","T","gnomAD_Exomes","PASS","NA","p.Tyr365Ter","p.Tyr365Ter","c.1092_1093delCT","frameshift_variant","segdup,lc_lof",4,251464,1.5906849489390103e-05,0,0,0,16254,0,0,3,34592,0,0,0,10080,0,0,1,18394,0,0,0,21646,0,0,0,113752,0,0,0,6136,0,0,0,30610,0,0]
["ZNF799","ENSG00000196466",19,12502140,"rs762225556","TTC","T","gnomAD_Exomes","PASS","NA","p.Arg357AsnfsTer9","p.Arg357AsnfsTer9","c.1070_1071delGA","frameshift_variant","segdup,lc_lof",1,251450,3.9769337840525e-06,0,0,0,16250,0,0,0,34592,0,0,0,10080,0,0,0,18394,0,0,0,21646,0,0,0,113742,0,0,0,6132,0,0,1,30614,0,0]
["ZNF799","ENSG00000196466",19,12502142,"rs551977407","C","CT","gnomAD_Exomes","PASS","NA","p.Arg357LysfsTer10","p.Arg357LysfsTer10","c.1069dupA","frameshift_variant","segdup,lc_lof",1,251448,3.97696541630874e-06,0,0,0,16248,0,0,0,34592,0,0,0,10080,0,0,0,18394,0,0,0,21646,0,0,0,113744,0,0,0,6132,0,0,1,30612,0,0]
["ZNF799","ENSG00000196466",19,12502187,"rs1211952693","CA","C","gnomAD_Exomes","PASS","NA","p.Cys342ValfsTer11","p.Cys342ValfsTer11","c.1024delT","frameshift_variant","segdup,lc_lof",1,251444,3.97702868233086e-06,0,0,0,16252,0,0,0,34590,0,0,0,10080,0,0,0,18394,0,0,0,21648,0,0,1,113730,0,0,0,6134,0,0,0,30616,0,0]
["ZNF799","ENSG00000196466",19,12502187,"rs1211952693","CAT","C","gnomAD_Exomes","PASS","NA","p.Ile341MetfsTer6","p.Ile341MetfsTer6","c.1023_1024delAT","frameshift_variant","segdup,lc_lof",1,251444,3.97702868233086e-06,0,0,0,16252,0,0,0,34590,0,0,0,10080,0,0,1,18394,0,0,0,21648,0,0,0,113730,0,0,0,6134,0,0,0,30616,0,0]
["ZNF799","ENSG00000196466",19,12502287,"rs1478497378","AG","A","gnomAD_Exomes","PASS","NA","p.Tyr309MetfsTer21","p.Tyr309MetfsTer21","c.924delC","frameshift_variant","segdup,lc_lof",1,251416,3.97747160085277e-06,0,0,1,16256,0,0,0,34592,0,0,0,10080,0,0,0,18394,0,0,0,21640,0,0,0,113706,0,0,0,6136,0,0,0,30612,0,0]
["ZNF799","ENSG00000196466",19,12502344,"rs759167356","AG","A","gnomAD_Exomes","PASS","NA","p.Phe290SerfsTer40","p.Phe290SerfsTer40","c.867delC","frameshift_variant","segdup,lc_lof",2,251336,7.95747525225197e-06,0,0,0,16228,0,0,0,34584,0,0,0,10078,0,0,0,18394,0,0,0,21634,0,0,2,113676,0,0,0,6130,0,0,0,30612,0,0]
["ZNF799","ENSG00000196466",19,12502589,"rs758132511","C","CA","gnomAD_Exomes","PASS","NA","p.Trp208LeufsTer9","p.Trp208LeufsTer9","c.622dupT","frameshift_variant","segdup,lc_lof",3,251316,1.1937162775151601e-05,0,0,0,16208,0,0,0,34582,0,0,0,10076,0,0,0,18390,0,0,0,21640,0,0,3,113682,0,0,0,6130,0,0,0,30608,0,0]
["ZNF799","ENSG00000196466",19,12502589,"rs758132511","CA","C","gnomAD_Exomes","PASS","NA","p.Trp208GlyfsTer34","p.Trp208GlyfsTer34","c.622delT","frameshift_variant","segdup,lc_lof",7,251316,2.78533798086871e-05,0,0,0,16208,0,0,0,34582,0,0,0,10076,0,0,0,18390,0,0,0,21640,0,0,4,113682,0,0,1,6130,0,0,2,30608,0,0]
["ZNF799","ENSG00000196466",19,12502615,"rs1299977153","ACATTT","A","gnomAD_Exomes","PASS","NA","p.Lys198Ter","p.Lys198Ter","c.592_596delAAATG","frameshift_variant","segdup,lc_lof",1,251200,3.98089171974522e-06,0,0,0,16142,0,0,0,34584,0,0,0,10078,0,0,0,18394,0,0,1,21640,0,0,0,113634,0,0,0,6120,0,0,0,30608,0,0]
["ZNF799","ENSG00000196466",19,12502692,"rs571245571","AT","A","gnomAD_Exomes","PASS","NA","p.Glu173AspfsTer69","p.Glu173AspfsTer69","c.519delA","frameshift_variant","segdup,lc_lof",1,251420,3.9774083207382095e-06,0,0,0,16246,0,0,0,34592,0,0,0,10080,0,0,0,18394,0,0,0,21642,0,0,0,113720,0,0,1,6132,0,0,0,30614,0,0]
["ZNF799","ENSG00000196466",19,12502718,"rs1461538844","CCA","C","gnomAD_Exomes","PASS","NA","p.Gly165LysfsTer5","p.Gly165LysfsTer5","c.492_493delTG","frameshift_variant","segdup,lc_lof",1,251420,3.9774083207382095e-06,0,0,0,16236,0,0,0,34592,0,0,0,10080,0,0,1,18394,0,0,0,21646,0,0,0,113726,0,0,0,6132,0,0,0,30614,0,0]
["ZNF799","ENSG00000196466",19,12503001,"rs781027950","ATC","A","gnomAD_Exomes","PASS","NA","p.Arg70IlefsTer3","p.Arg70IlefsTer3","c.209_210delGA","frameshift_variant","segdup,lc_lof",1,217840,4.59052515607786e-06,0,0,0,15372,0,0,0,27284,0,0,0,7270,0,0,0,17366,0,0,0,19964,0,0,1,101592,0,0,0,5210,0,0,0,23782,0,0]
["ZNF799","ENSG00000196466",19,12501686,"rs1036982424","CAT","C","gnomAD_Genomes","NA","PASS","p.Cys509Ter","p.Cys509Ter","c.1524_1525delAT","frameshift_variant","segdup,lc_lof",1,31402,3.18451054072989e-05,0,0,1,8714,0,0,0,846,0,0,0,290,0,0,0,1558,0,0,0,3476,0,0,0,15430,0,0,0,1088,0,0,0,0,0,0]
["ZNF799","ENSG00000196466",19,12502649,"rs960106175","ATG","A","gnomAD_Genomes","NA","PASS","p.Met188GlyfsTer10","p.Met188GlyfsTer10","c.561_562delCA","frameshift_variant","segdup,lc_lof",1,31404,3.18430773149917e-05,0,0,0,8718,0,0,0,848,0,0,0,290,0,0,0,1556,0,0,0,3474,0,0,1,15430,0,0,0,1088,0,0,0,0,0,0]
["ZNF799","ENSG00000196466",19,12501312,"rs764417426","TGA","T","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Leu633GlnfsTer5","p.Leu633GlnfsTer5","c.1898_1899delTC","frameshift_variant","segdup,lc_lof",13,282372,4.6038559063929904e-05,0,0,0,24786,0,0,0,35440,0,0,0,10366,0,0,13,19934,0,0,0,25122,0,0,0,128922,0,0,0,7192,0,0,0,30610,0,0]
["ZNF799","ENSG00000196466",19,12501467,"rs752463926","TGA","T","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.His582TyrfsTer7","p.His582TyrfsTer7","c.1743_1744delTC","frameshift_variant","segdup,lc_lof",6,282218,2.1260160585079603e-05,0,0,0,24718,0,0,0,35428,0,0,0,10356,0,0,0,19954,0,0,0,25100,0,0,6,128882,0,0,0,7176,0,0,0,30604,0,0]
["ZNF799","ENSG00000196466",19,12502391,"rs764865398","GTTCT","G","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Arg273LeufsTer56","p.Arg273LeufsTer56","c.817_820delAGAA","frameshift_variant","segdup,lc_lof",3,282604,1.0615560997013501e-05,0,0,2,24866,0,0,0,35438,0,0,0,10366,0,0,0,19952,0,0,0,25106,0,0,1,129068,0,0,0,7202,0,0,0,30606,0,0]
["ZNF799","ENSG00000196466",19,12502488,"rs752217134","TTAGA","T","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Tyr240Ter","p.Tyr240Ter","c.720_723delTCTA","frameshift_variant","segdup,lc_lof",15,281842,5.3221308392645504e-05,0,0,0,24480,0,0,2,35374,0,0,0,10360,0,0,0,19952,0,0,0,25088,0,0,13,128830,0,0,0,7162,0,0,0,30596,0,0]
["ZNF799","ENSG00000196466",19,12503001,"rs781027950","ATCTC","A","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Glu69AspfsTer23","p.Glu69AspfsTer23","c.207_210delGAGA","frameshift_variant","segdup,lc_lof",46,249232,0.00018456698979300002,0,0,0,24084,0,0,8,28132,0,0,21,7558,0,0,0,18926,0,0,2,23440,0,0,13,117012,0,0,2,6298,0,0,0,23782,0,0]
["ZNF823","ENSG00000197933",19,11832719,"rs537243329","G","A","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Arg544Ter","p.Arg544Ter","c.1630C>T","stop_gained","segdup,lc_lof",10,280778,3.56153259870788e-05,0,0,0,24668,0,0,0,34890,0,0,0,10356,0,0,0,19840,0,0,0,25108,0,0,10,128708,0,0,0,7142,0,0,0,30066,0,0]
["ZNF823","ENSG00000197933",19,11833307,"rs200817135","G","A","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Arg348Ter","p.Arg348Ter","c.1042C>T","stop_gained","segdup,lc_lof",2,282784,7.0725359284825195e-06,0,0,0,24964,0,0,1,35434,0,0,0,10368,0,0,0,19954,0,0,0,25104,0,0,1,129134,0,0,0,7220,0,0,0,30606,0,0]
["ZNF823","ENSG00000197933",19,11834017,"rs779226697","G","T","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Ser111Ter","p.Ser111Ter","c.332C>A","stop_gained","segdup,lc_lof",3,282644,1.06140586745164e-05,0,0,0,24864,0,0,0,35440,0,0,0,10364,0,0,0,19954,0,0,0,25124,0,0,3,129074,0,0,0,7210,0,0,0,30614,0,0]
["ZNF823","ENSG00000197933",19,11833100,"rs368892172","G","A","gnomAD_Genomes","NA","PASS","p.Gln417Ter","p.Gln417Ter","c.1249C>T","stop_gained","segdup,lc_lof",1,31132,3.2121289991006e-05,0,0,1,8610,0,0,0,844,0,0,0,284,0,0,0,1552,0,0,0,3460,0,0,0,15298,0,0,0,1084,0,0,0,0,0,0]
["ZNF823","ENSG00000197933",19,11833448,"rs1482802788","C","A","gnomAD_Genomes","NA","PASS","p.Glu301Ter","p.Glu301Ter","c.901G>T","stop_gained","segdup,lc_lof",1,31390,3.18572793883402e-05,0,0,0,8710,0,0,0,848,0,0,0,290,0,0,0,1556,0,0,0,3476,0,0,1,15426,0,0,0,1084,0,0,0,0,0,0]
["ZNF823","ENSG00000197933",19,11833741,"rs1401810994","C","T","gnomAD_Genomes","NA","PASS","p.Trp203Ter","p.Trp203Ter","c.608G>A","stop_gained","segdup,lc_lof",1,31396,3.1851191234552205e-05,0,0,1,8718,0,0,0,848,0,0,0,290,0,0,0,1560,0,0,0,3474,0,0,0,15420,0,0,0,1086,0,0,0,0,0,0]
["ZNF823","ENSG00000197933",19,11832638,"rs772239702","G","A","gnomAD_Exomes","PASS","NA","p.Arg571Ter","p.Arg571Ter","c.1711C>T","stop_gained","segdup,lc_lof",1,251342,3.9786426462748e-06,0,0,0,16202,0,0,0,34590,0,0,0,10078,0,0,1,18392,0,0,0,21644,0,0,0,113696,0,0,0,6130,0,0,0,30610,0,0]
["ZNF823","ENSG00000197933",19,11832894,"rs1253663632","G","C","gnomAD_Exomes","PASS","NA","p.Tyr485Ter","p.Tyr485Ter","c.1455C>G","stop_gained","segdup,lc_lof",2,249100,8.02890405459655e-06,0,0,0,15738,0,0,0,34220,0,0,0,9952,0,0,0,18322,0,0,2,21574,0,0,0,113018,0,0,0,6016,0,0,0,30260,0,0]
["ZNF823","ENSG00000197933",19,11833055,"rs774009286","G","A","gnomAD_Exomes","PASS","NA","p.Arg432Ter","p.Arg432Ter","c.1294C>T","stop_gained","segdup,lc_lof",2,250538,7.982820969274119e-06,0,0,0,15786,0,0,0,34580,0,0,0,10074,0,0,0,18392,0,0,0,21624,0,0,2,113388,0,0,0,6078,0,0,0,30616,0,0]
["ZNF823","ENSG00000197933",19,11833223,"rs773804721","G","A","gnomAD_Exomes","PASS","NA","p.Arg376Ter","p.Arg376Ter","c.1126C>T","stop_gained","segdup,lc_lof",2,251154,7.96324167642164e-06,0,0,0,16112,0,0,0,34588,0,0,0,10076,0,0,0,18394,0,0,0,21634,0,0,2,113622,0,0,0,6118,0,0,0,30610,0,0]
["ZNF823","ENSG00000197933",19,11833391,"rs759765537","G","A","gnomAD_Exomes","PASS","NA","p.Arg320Ter","p.Arg320Ter","c.958C>T","stop_gained","segdup,lc_lof",1,251416,3.97747160085277e-06,0,0,0,16250,0,0,0,34588,0,0,0,10080,0,0,0,18394,0,0,0,21640,0,0,0,113718,0,0,0,6136,0,0,1,30610,0,0]
["ZNF823","ENSG00000197933",19,11833718,"rs747534988","C","A","gnomAD_Exomes","PASS","NA","p.Glu211Ter","p.Glu211Ter","c.631G>T","stop_gained","segdup,lc_lof",1,251054,3.983206800130649e-06,0,0,0,16024,0,0,0,34590,0,0,0,10076,0,0,0,18394,0,0,0,21648,0,0,0,113608,0,0,1,6100,0,0,0,30614,0,0]
["ZNF823","ENSG00000197933",19,11833811,"rs781607058","G","A","gnomAD_Exomes","PASS","NA","p.Arg180Ter","p.Arg180Ter","c.538C>T","stop_gained","segdup,lc_lof",4,250572,1.59634755679006e-05,0,0,0,15682,0,0,2,34588,0,0,0,10074,0,0,0,18394,0,0,0,21648,0,0,1,113484,0,0,0,6086,0,0,1,30616,0,0]
["ZNF823","ENSG00000197933",19,11833907,"rs1465236114","G","A","gnomAD_Exomes","PASS","NA","p.Gln148Ter","p.Gln148Ter","c.442C>T","stop_gained","segdup,lc_lof",1,251384,3.97797791426662e-06,0,0,0,16208,0,0,0,34592,0,0,0,10078,0,0,0,18394,0,0,0,21642,0,0,1,113722,0,0,0,6132,0,0,0,30616,0,0]
["ZNF823","ENSG00000197933",19,11834069,"rs758465222","G","A","gnomAD_Exomes","PASS","NA","p.Arg94Ter","p.Arg94Ter","c.280C>T","stop_gained","segdup,lc_lof",4,250160,1.59897665494084e-05,0,0,0,15616,0,0,1,34582,0,0,0,10062,0,0,1,18392,0,0,0,21636,0,0,2,113188,0,0,0,6070,0,0,0,30614,0,0]
["ZNF823","ENSG00000197933",19,11832704,"rs776977564","GA","G","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.His549ThrfsTer44","p.His549ThrfsTer44","c.1644delT","frameshift_variant","segdup,lc_lof",2,282656,7.07573870712102e-06,0,0,1,24880,0,0,0,35436,0,0,0,10368,0,0,0,19954,0,0,0,25118,0,0,1,129086,0,0,0,7206,0,0,0,30608,0,0]
["ZNF823","ENSG00000197933",19,11833419,"rs763366596","C","CAAAA","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Lys311PhefsTer24","p.Lys311PhefsTer24","c.929_930insTTTT","frameshift_variant","segdup,lc_lof",7,282690,2.47621069015529e-05,0,0,0,24928,0,0,0,35436,0,0,0,10368,0,0,0,19952,0,0,1,25100,0,0,6,129080,0,0,0,7218,0,0,0,30608,0,0]
["ZNF823","ENSG00000197933",19,11833740,"rs201945832","CCAAA","C","gnomAD_Exomes_gnomAD_Genomes","PASS","PASS","p.Val202GlyfsTer34","p.Val202GlyfsTer34","c.605_608delTTTG","frameshift_variant","segdup,lc_lof",2,282414,7.08180189367383e-06,0,0,1,24714,0,0,0,35438,0,0,0,10364,0,0,1,19952,0,0,0,25124,0,0,0,129010,0,0,0,7198,0,0,0,30614,0,0]
["ZNF823","ENSG00000197933",19,11833504,"rs1347599332","CCA","C","gnomAD_Genomes","NA","PASS","p.Cys281TrpfsTer14","p.Cys281TrpfsTer14","c.843_844delTG","frameshift_variant","segdup,lc_lof",2,31402,6.36902108145978e-05,0,0,0,8712,0,0,0,848,0,0,0,290,0,0,0,1558,0,0,0,3476,0,0,2,15430,0,0,0,1088,0,0,0,0,0,0]
["ZNF823","ENSG00000197933",19,11832619,"rs770983116","TGA","T","gnomAD_Exomes","PASS","NA","p.Thr578TrpfsTer6","p.Thr578TrpfsTer6","c.1728_1729delTC","frameshift_variant","segdup,lc_lof",1,251350,3.97851601352695e-06,0,0,0,16206,0,0,0,34590,0,0,0,10080,0,0,0,18392,0,0,0,21648,0,0,1,113692,0,0,0,6132,0,0,0,30610,0,0]
["ZNF823","ENSG00000197933",19,11832877,"rs759643375","C","CT","gnomAD_Exomes","PASS","NA","p.Arg491LysfsTer10","p.Arg491LysfsTer10","c.1471dupA","frameshift_variant","segdup,lc_lof",2,248732,8.04078285061834e-06,0,0,0,15576,0,0,0,34130,0,0,0,9966,0,0,0,18316,0,0,0,21578,0,0,2,112924,0,0,0,6004,0,0,0,30238,0,0]
["ZNF823","ENSG00000197933",19,11833022,"rs765680827","GT","G","gnomAD_Exomes","PASS","NA","p.Lys442AsnfsTer54","p.Lys442AsnfsTer54","c.1326delA","frameshift_variant","segdup,lc_lof",1,250566,3.99096445647055e-06,0,0,0,15772,0,0,0,34580,0,0,1,10074,0,0,0,18394,0,0,0,21636,0,0,0,113410,0,0,0,6086,0,0,0,30614,0,0]
["ZNF823","ENSG00000197933",19,11833135,"rs1245939182","CTT","C","gnomAD_Exomes","PASS","NA","p.Arg405ThrfsTer2","p.Arg405ThrfsTer2","c.1212_1213delAA","frameshift_variant","segdup,lc_lof",1,250580,3.99074147976694e-06,0,0,0,15748,0,0,0,34578,0,0,0,10074,0,0,0,18388,0,0,0,21634,0,0,1,113456,0,0,0,6090,0,0,0,30612,0,0]
["ZNF823","ENSG00000197933",19,11833199,"rs1406049886","CTG","C","gnomAD_Exomes","PASS","NA","p.Thr383ArgfsTer24","p.Thr383ArgfsTer24","c.1148_1149delCA","frameshift_variant","segdup,lc_lof",1,250948,3.9848892997752494e-06,0,0,0,15966,0,0,0,34586,0,0,0,10076,0,0,0,18394,0,0,0,21644,0,0,0,113566,0,0,0,6106,0,0,1,30610,0,0]
["ZNF823","ENSG00000197933",19,11833632,"rs1422797090","TTCATG","T","gnomAD_Exomes","PASS","NA","p.His238LysfsTer10","p.His238LysfsTer10","c.712_716delCATGA","frameshift_variant","segdup,lc_lof",1,250976,3.984444727782739e-06,0,0,0,15990,0,0,0,34588,0,0,0,10076,0,0,0,18394,0,0,0,21644,0,0,1,113574,0,0,0,6096,0,0,0,30614,0,0]
["ZNF823","ENSG00000197933",19,11833924,"rs755754402","CCA","C","gnomAD_Exomes","PASS","NA","p.Gly142GlufsTer13","p.Gly142GlufsTer13","c.423_424delTG","frameshift_variant","segdup,lc_lof",1,251408,3.97759816712276e-06,0,0,0,16218,0,0,0,34592,0,0,0,10078,0,0,0,18394,0,0,0,21644,0,0,1,113734,0,0,0,6134,0,0,0,30614,0,0]