{"text_format":"3","workbook":"xlsx","n_sheets":13,"sheets":["Data collection summary","DbMS-non synonymous ex","DbLOF","Pathway enrichment","ACC-early_childhood_adulthood","ACC-prenatal_adulthood","MTG-early_childhood_adulthood","MTG-prenatal_adulthood","VISP-early_childhood_adulthood","VISP-prenatal_adulthood","ACC-Pli","MTG-Pli","VISP-Pli"],"read":"whole","date_system":"1900"}

{"sheet":"Data collection summary","index":0,"n_rows":28,"n_cols":11,"rows_kept":28}
["Supplementary Table 1: Summary of mutation data collected from literature."]
["PMID","Study Type","Data Source","Reported Genomic Build","Number of Variants in the DB","Inheritence","Cohort","Cases","Population","Phenotype","Sequencing"]
[22542183,"family based","Supplementary Table 1","hg19",743,"de novo","343 families (parents and at least two kids each)",343,"-","ASD","WES"]
[28263302,"family based","Supplementary Table 3","hg19",140494,"de novo","2,618 children with ASD (1,740 probands and 878 affected siblings)",2618,"-","ASD","WGS"]
[25363760,"family based and case/control","Supplementary Table 3","hg19",3103,"de novo and inherited","Cases: 3871  Controls: 9,937 ancestry-matched or parental controls",3871,"-","ASD","WES"]
[25363768,"family based","Supplementary Table 2","hg19",5646,"de novo","2,508 affected children; 1,911 unaffected siblings and the parents of each family",2508,"-","ASD","WES"]
[25621899,"family based","Supplementary Tables 3 and 8","hg19",225,"de novo","85 quartet families (parents and two ASD-affected siblings), consisting of 170 individuals with ASD",170,"-","ASD","WGS"]
[28628100,"case/control","Supplementary Table 4","hg19",93,"de novo","Cases: 17,689 patients; control: 3,023 unaffected siblings",17689,"-","ASD and DD","Targeted"]
[23260136,"family based","Supplementary Table 1","hg18",668,"mostly de novo","10 identical twin pairs and their parents",10,"-","ASD","WGS"]
[27525107,"family based","Supplementary Table 4 and 5","hg19",11126,"de novo","200 trios (ASD cases and their parents)",200,"Canadian","ASD","WGS"]
[22495311,"family based","Supplementary Table 1","hg19",176,"de novo","175 trios (ASD cases and their parents)",200,"-","ASD","WES"]
[22495306,"family based","Supplementary Table 2","hg18",140,"de novo","225 families (200 quartets, 25 trios)",225,"-","ASD","WES"]
[21572417,"family based","Supplementary Table 3","hg18",915,"de novo","20 trios",20,"-","ASD","WES"]
[28344757,"family based","Supplementary Table 1","hg19",128,"de novo","116 trios (ASD cases and their parents)",116,"-","ASD","WES"]
[27081536,"case report","Supplementary Table 2","hg19",127,"rare","105 ASD individuals",105,"-","ASD","Targeted"]
[24836510,"case/control","Supplementary Table 2","hg19",8,"rare","Case: 213 ASD individuals   Control: 667 control individuals",213,"Japanese","ASD","Targeted"]
[24126926,"case/control","Table 1","hg19",29,"rare","152 ASD individuals; 297 SZ individuals; and 294 control individuals",152,"-","ASD and SZ","Targeted"]
[25646853,"case study","Supplementary Table 3","hg19",71,"de novo","3 ASD individuals",3,"-","ASD","WGS"]
[26637798,"case/control","Supplementary Table 2","hg19",34,"Germline or Mosaic","Cases: 76; Control: 50",76,"-","mostly ASD","Targeted"]
[27632392,"case/control","Supplementary Tables 3 and 4","hg19",319,"mosaic","Cases: 12; Control:4",12,"Caucasian or African American","ASD","WES"]
[28831199,"case/control","Supplementary Table 3","hg19",496,"de novo","Cases: 536; Control: 1457",536,"Chinese","ASD","Targeted"]
[26582266,"family based","Table 1","hg19",38,"de novo","30 patients with ASD and their parents (trio-based)",30,"Japanese","ASD","WES"]
[22914163,"family based and case/control","Supplementary Table 1","hg18",4933,"de novo","78 trios",78,"Icelandic","ASD","WGS"]
[29162653,"family based and case report","Table 1","hg19",7,"de novo","8057 individuals with DD and/or ID",8057,"-","DD and/or ID and/or autism","WES"]
[24531329,"case report","Table 1","hg19",10,"mostly de novo",10,10,"Mixed","ASD","WES, HRM, or MIP"]
[26576547,"case/control","Table 1","hg19",4,"de novo","Cases: 2790;   Control: published databases (exac, dbSNP, 1000genome, ESP, local database of over 15,000 control exomes)",2790,"-","ID","WES"]
[28720891,"family based","Table 1","hg38",45,"rare","19 trios from singleton Saudi families with ASD",19,"Saudi","ASD","WES"]
[27018473,"family based","Supplementary Table 7","hg19",3,"de novo","71 affected individuals, 26 healthy siblings, and their parents",71,"-","ASD","WGS"]

{"sheet":"DbMS-non synonymous ex","index":1,"n_rows":6553,"n_cols":74,"rows_kept":1125,"cut":true,"bounds":{"rows_first":500,"rows_last":125,"rows_between":500,"halvings":2}}
["Supplementary Table 2A: List of ASD missense mutation genes"]
[null,"PMID","Chr","Start","End","Ref","Alt","inheritence","parent_of_origin","germline","cytoBand","Func.refGene","Gene.refGene","GeneID","GeneDetail.refGene","ExonicFunc.refGene","AAChange.refGene","Xref.refGene","cosmic70","avsnp147","ExAC_ALL","ExAC_AFR","ExAC_AMR","ExAC_EAS","ExAC_FIN","ExAC_NFE","ExAC_OTH","ExAC_SAS","X1000g2015aug_all","CLINSIG","CLNDBN","CLNACC","CLNDSDB","CLNDSDBID","SIFT_score","SIFT_pred","Polyphen2_HDIV_score","Polyphen2_HDIV_pred","Polyphen2_HVAR_score","Polyphen2_HVAR_pred","LRT_score","LRT_pred","MutationTaster_score","MutationTaster_pred","MutationAssessor_score","MutationAssessor_pred","FATHMM_score","FATHMM_pred","PROVEAN_score","PROVEAN_pred","VEST3_score","CADD_raw","CADD_phred","DANN_score","fathmm.MKL_coding_score","fathmm.MKL_coding_pred","MetaSVM_score","MetaSVM_pred","MetaLR_score","MetaLR_pred","integrated_fitCons_score","integrated_confidence_value","GERP.._RS","phyloP7way_vertebrate","phyloP20way_mammalian","phastCons7way_vertebrate","phastCons20way_mammalian","SiPhy_29way_logOdds","study_type","ethnicity","phenotype","sequencing_method","age..yrs.","gender"]
[1,22542183,7,127991052,127991052,"G","A","DeNovo",".",".","7q32.1","exonic","SND1",27044,".","nonsynonymous SNV","SND1:NM_014390:exon16:c.G1775A:p.R592Q",".",".","rs757018109",{"v":2.81e-05,"d":"2.81E-05"},0,0,1E-4,0,{"v":3.37e-05,"d":"3.37E-05"},0,0,".",".",".",".",".",".",0.005,"D",1,"D",0.995,"D",0.008,"N",1,"D",3.575,"H",1.41,"T",-3.13,"D",0.67,7.781,35,1,0.923,"D",-0.318,"T",0.289,"T",0.707,0,5.54,0.917,1.048,1,1,17.314,"FamilyBased",".","ASD","WES",".","."]
[2,22542183,18,321720,321720,"C","A","DeNovo",".",".","18p11.32","exonic","COLEC12",81035,".","nonsynonymous SNV","COLEC12:NM_130386:exon9:c.G2151T:p.W717C",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",1,"D",0,"D",1,"D",4.275,"H",1.57,"T",-4.91,"D",0.994,3.682,23.3,0.992,0.985,"D",0.065,"D",0.365,"T",0.644,0,5.68,0.871,0.935,0.997,0.998,19.786,"FamilyBased",".","ASD","WES",".","."]
[6,22542183,7,149722863,149722863,"G","A","DeNovo",".",".","7q36.1","exonic","KRBA1",84626,".","nonsynonymous SNV","KRBA1:NM_001290187:exon7:c.G781A:p.E261K,KRBA1:NM_032534:exon7:c.G679A:p.E227K",".",".","rs375462943",{"v":3.34e-05,"d":"3.34E-05"},0.0003,0,1E-4,0,0,0,0,".",".",".",".",".",".",0.204,"T",0.017,"B",0.008,"B",0.722,"N",1,"N",0.895,"L",1.47,"T",-2.4,"N",0.33,1.008,10.71,0.987,0.043,"N",-1.005,"T",0.043,"T",0.563,0,-3.48,0.069,-0.329,2E-3,0,6.614,"FamilyBased",".","ASD","WES",".","."]
[7,22542183,1,205828706,205828706,"A","G","DeNovo",".",".","1q32.1","exonic","PM20D1",148811,".","nonsynonymous SNV","PM20D1:NM_152491:exon13:c.T1423C:p.Y475H",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",0.996,"D",0,"D",0.915,"N",1.44,"L",0.66,"T",-4.43,"D",0.727,4.24,23.9,0.996,0.908,"D",-0.813,"T",0.221,"T",0.549,0,6.06,1.062,1.199,0.872,0.036,13.001,"FamilyBased",".","ASD","WES",".","."]
[9,22542183,3,31989291,31989291,"T","C","DeNovo",".",".","3p23","exonic","ZNF860",344787,".","nonsynonymous SNV","ZNF860:NM_001137674:exon2:c.T212C:p.M71T",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.19,"T",0.208,"B",0.033,"B",".",".",1,"N",0.205,"N",3.6,"T",-4.53,"D",0.138,-0.99,0.017,0.371,1E-3,"N",-0.902,"T",0.007,"T",0.563,0,0.345,0.158,0.251,0.415,0.057,".","FamilyBased",".","ASD","WES",".","."]
[10,22542183,1,242220040,242220040,"T","C","DeNovo",".",".","1q43","exonic","PLD5",200150,".","nonsynonymous SNV","PLD5:NM_001195812:exon4:c.A59G:p.K20R,PLD5:NM_001195811:exon5:c.A497G:p.K166R,PLD5:NM_001320272:exon6:c.A407G:p.K136R,PLD5:NM_152666:exon6:c.A683G:p.K228R",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.697,"T",0.049,"B",0.028,"B",0,"D",0.727,"N",-0.11,"N",2.6,"T",0,"N",0.095,1.247,11.99,0.992,0.766,"D",-1.042,"T",0.018,"T",0.653,0,5.52,0.991,1.061,1,0.999,12.02,"FamilyBased",".","ASD","WES",".","."]
[12,22542183,12,69693767,69693767,"G","T","DeNovo",".",".","12q15","exonic","BEST3",144453,".","nonsynonymous SNV","BEST3:NM_001282613:exon2:c.C70A:p.R24S,BEST3:NM_001282615:exon2:c.C70A:p.R24S,BEST3:NM_001282616:exon3:c.C70A:p.R24S,BEST3:NM_001282614:exon4:c.C388A:p.R130S,BEST3:NM_032735:exon4:c.C388A:p.R130S",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",1,"D",0,"D",1,"D",4.095,"H",-5.69,"D",-5.69,"D",0.991,5.993,27.8,0.998,0.985,"D",0.954,"D",0.994,"D",0.497,0,5.88,0.917,0.135,1,0.998,20.219,"FamilyBased",".","ASD","WES",".","."]
[15,22542183,4,69480687,69480687,"G","T","DeNovo",".",".","4q13.3","exonic","UGT2B4",7363,".","nonsynonymous SNV","UGT2B4:NM_021139:exon6:c.C1534A:p.L512M,UGT2B4:NM_001297616:exon7:c.C1126A:p.L376M",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.064,"T",0.593,"P",0.512,"P",0.922,"U",1,"N",2.25,"M",0.07,"T",-1.59,"N",0.213,1.104,11.24,0.984,0.006,"N",-0.844,"T",0.22,"T",0.487,0,-0.887,-0.241,-0.257,0.008,0.009,2.788,"FamilyBased",".","ASD","WES",".","."]
[16,22542183,16,15028931,15028931,"C","T","DeNovo",".",".","16p13.11","exonic","PDXDC1",23042,".","nonsynonymous SNV","PDXDC1:NM_001285444:exon14:c.C1177T:p.R393W,PDXDC1:NM_001285445:exon14:c.C1174T:p.R392W,PDXDC1:NM_001285448:exon14:c.C985T:p.R329W,PDXDC1:NM_001285450:exon14:c.C1189T:p.R397W,PDXDC1:NM_001324021:exon14:c.C1177T:p.R393W,PDXDC1:NM_001285447:exon15:c.C1213T:p.R405W,PDXDC1:NM_001285449:exon15:c.C1258T:p.R420W,PDXDC1:NM_001324019:exon15:c.C1255T:p.R419W,PDXDC1:NM_001324020:exon15:c.C1255T:p.R419W,PDXDC1:NM_015027:exon15:c.C1258T:p.R420W",".",".","rs372184413",{"v":2.49e-05,"d":"2.49E-05"},0,{"v":8.77e-05,"d":"8.77E-05"},0,0,{"v":3.01E-5,"d":"3.01E-05"},0,0,".",".",".",".",".",".",0.006,"D",0.028,"B",0.004,"B",0.221,"N",0.924,"N",1.5,"L",2.11,"T",-2.25,"N",0.246,2.864,21.7,0.907,0.768,"D",-1.035,"T",0.06,"T",0.752,0,3.05,0.598,-0.37,0.792,0.028,6.665,"FamilyBased",".","ASD","WES",".","."]
[21,22542183,8,27505097,27505097,"C","T","DeNovo",".",".","8p21.1","exonic","EPHX2",2053,".","nonsynonymous SNV","EPHX2:NM_001256483:exon3:c.C290T:p.P97L,EPHX2:NM_001256482:exon4:c.C329T:p.P110L,EPHX2:NM_001256484:exon4:c.C329T:p.P110L,EPHX2:NM_001979:exon4:c.C488T:p.P163L",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.033,"D",0.231,"B",0.194,"B",0,"N",0.956,"N",2.19,"M",2.31,"T",-6.26,"D",0.374,3.293,22.8,0.992,0.213,"N",-1.009,"T",0.056,"T",0.706,0,3.76,0.871,0.935,0.974,0.993,10.228,"FamilyBased",".","ASD","WES",".","."]
[23,22542183,19,18163049,18163049,"G","A","DeNovo",".",".","19p13.11","exonic","PIK3R2",5296,".","nonsynonymous SNV","PIK3R2:NM_005027:exon10:c.G1192A:p.V398I","Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, Autosomal dominant",".","rs771756537",{"v":4.13e-05,"d":"4.13E-05"},0,0,0,0,{"v":6.01e-05,"d":"6.01E-05"},0,{"v":6.07e-05,"d":"6.07E-05"},".",".",".",".",".",".",0.018,"D",0.995,"D",0.95,"D",0,"D",1,"D",1.82,"L",0.07,"T",-0.97,"N",0.353,5.301,25.8,0.998,0.986,"D",-0.345,"T",0.324,"T",0.707,0,3.69,0.917,0.877,0.987,0.073,15.323,"FamilyBased",".","ASD","WES",".","."]
[24,22542183,11,63818293,63818293,"C","T","DeNovo",".",".","11q13.1","exonic","C11orf84",144097,".","nonsynonymous SNV","C11orf84:NM_138471:exon3:c.C535T:p.L179F",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",0.998,"D",0.006,"N",0.738,"N",1.78,"L",0.03,"T",-1.15,"N",0.311,5.291,25.7,0.999,0.394,"N",-0.37,"T",0.355,"T",0.707,0,4.62,0.008,0.024,0.978,0.015,9.507,"FamilyBased",".","ASD","WES",".","."]
[25,22542183,19,38724045,38724045,"A","G","DeNovo",".",".","19q13.2","exonic","ACTN4",81,".","nonsynonymous SNV","ACTN4:NM_001322033:exon14:c.A1660G:p.M554V,ACTN4:NM_004924:exon14:c.A1660G:p.M554V","Glomerulosclerosis, focal segmental, 1, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"T",2E-3,"B",0.007,"B",0,"D",1,"D",1.905,"M",0.79,"T",-1.78,"N",0.605,1.744,14.66,0.943,0.99,"D",-0.987,"T",0.123,"T",0.707,0,3.75,1.062,1.088,1,1,11.88,"FamilyBased",".","ASD","WES",".","."]
[27,22542183,2,178538750,178538750,"C","A","DeNovo",".",".","2q31.2","exonic","TTN",7273,".","nonsynonymous SNV","TTN:NM_003319:exon182:c.G71884T:p.G23962C,TTN:NM_133432:exon183:c.G72259T:p.G24087C,TTN:NM_133437:exon183:c.G72460T:p.G24154C,TTN:NM_133378:exon303:c.G91375T:p.G30459C,TTN:NM_001256850:exon304:c.G94156T:p.G31386C,TTN:NM_001267550:exon354:c.G99079T:p.G33027C","Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",1,"D",".",".",1,"D",4,"H",-0.16,"T",-6.83,"D",0.738,3.856,23.4,0.878,0.955,"D",0.477,"D",0.626,"D",0.653,0,5.87,0.871,0.935,0.999,1,20.583,"FamilyBased",".","ASD","WES",".","."]
[29,22542183,6,83178696,83178696,"G","A","DeNovo",".",".","6q14.1","exonic","PGM3",5238,".","nonsynonymous SNV","PGM3:NM_001199918:exon7:c.C763T:p.R255W,PGM3:NM_001199919:exon8:c.C1006T:p.R336W,PGM3:NM_015599:exon8:c.C1006T:p.R336W,PGM3:NM_001199917:exon9:c.C1090T:p.R364W","Immunodeficiency 23, Autosomal recessive",".","rs748755438",{"v":3.3e-05,"d":"3.30E-05"},0,0,1E-4,0,{"v":1.5E-5,"d":"1.50E-05"},0,1E-4,".",".",".",".",".",".",0.008,"D",0.997,"D",0.724,"P",0,"D",1,"D",2.695,"M",-0.25,"T",-4.1,"D",0.82,6.846,33,0.999,0.956,"D",-0.28,"T",0.325,"T",0.707,0,3.06,-0.022,1.048,0.996,1,14.826,"FamilyBased",".","ASD","WES",".","."]
[31,22542183,4,142314758,142314758,"C","T","DeNovo",".",".","4q31.21","exonic","INPP4B",8821,".","nonsynonymous SNV","INPP4B:NM_001101669:exon8:c.G377A:p.R126Q,INPP4B:NM_001331040:exon8:c.G377A:p.R126Q,INPP4B:NM_003866:exon9:c.G377A:p.R126Q",".","ID=COSM3825259,COSM3825260;OCCURENCE=1(breast)",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.336,"T",0.006,"B",0.007,"B",0.202,"N",0.979,"N",0,"N",1.96,"T",-0.08,"N",0.489,3.728,23.3,0.998,0.885,"D",-1.028,"T",0.038,"T",0.638,0,5.2,-0.032,0.065,0.991,0.99,11.419,"FamilyBased",".","ASD","WES",".","."]
[32,22542183,2,178583093,178583093,"G","T","DeNovo",".",".","2q31.2","exonic","TTN",7273,".","nonsynonymous SNV","TTN:NM_003319:exon141:c.C38515A:p.L12839I,TTN:NM_133432:exon142:c.C38890A:p.L12964I,TTN:NM_133437:exon142:c.C39091A:p.L13031I,TTN:NM_133378:exon262:c.C58006A:p.L19336I,TTN:NM_001256850:exon263:c.C60787A:p.L20263I,TTN:NM_001267550:exon313:c.C65710A:p.L21904I","Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.776,"T",2E-3,"B",0.017,"B",".",".",1,"N",1.07,"L",-0.42,"T",-0.09,"N",0.123,1.602,13.86,0.884,0.072,"N",-0.936,"T",0.141,"T",0.554,0,-5.22,-0.683,0.079,0.194,0.324,2.303,"FamilyBased",".","ASD","WES",".","."]
[34,22542183,19,1582655,1582655,"C","T","DeNovo",".",".","19p13.3","exonic","MBD3",53615,".","nonsynonymous SNV","MBD3:NM_001281453:exon4:c.G466A:p.V156I,MBD3:NM_001281454:exon4:c.G370A:p.V124I",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.015,"B",0.009,"B",0,"D",0.983,"D",-0.755,"N",1.03,"T",".",".",0.296,4.284,24,0.956,0.931,"D",0.358,"D",0.74,"D",0.707,0,4.25,0.871,0.819,0.97,0.99,16.002,"FamilyBased",".","ASD","WES",".","."]
[35,22542183,8,17960077,17960077,"G","A","DeNovo",".",".","8p22","exonic","PCM1",5108,".","nonsynonymous SNV","PCM1:NM_001315507:exon14:c.G2104A:p.A702T,PCM1:NM_001315508:exon14:c.G2107A:p.A703T,PCM1:NM_006197:exon14:c.G2104A:p.A702T",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.061,"T",0.726,"P",0.38,"B",0.006,"N",1,"N",1.1,"L",3.61,"T",-0.72,"N",0.045,1.364,12.6,0.969,0.377,"N",-1.054,"T",0.052,"T",0.707,0,2.25,0.917,0.142,0.965,0.987,6.289,"FamilyBased",".","ASD","WES",".","."]
[38,22542183,17,58279040,58279040,"A","C","DeNovo",".",".","17q22","exonic","MPO",4353,".","nonsynonymous SNV","MPO:NM_000250:exon6:c.T853G:p.C285G","Myeloperoxidase deficiency, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",0.089,"B",0.239,"B",0,"D",1,"D",2.435,"M",-0.61,"T",-10.53,"D",0.896,5.459,26.1,0.979,0.988,"D",-0.25,"T",0.393,"T",0.598,0,4.72,1.062,1.199,0.952,0.999,13.535,"FamilyBased",".","ASD","WES",".","."]
[40,22542183,5,173609391,173609391,"C","T","DeNovo",".",".","5q35.2","exonic","BOD1",91272,".","nonsynonymous SNV","BOD1:NM_138369:exon3:c.G406A:p.V136M",".",".","rs72822197",0.1328,0.3039,0.0993,1.8E-3,0.1548,0.1382,0.1211,0.0878,".",".",".",".",".",".",0.041,"D",0.888,"P",0.528,"P",0,"D",1,"D",2.25,"M",".",".",-2.69,"D",0.845,6.717,32,0.999,0.989,"D",-0.331,"T",0.333,"T",0.707,0,5.65,0.871,0.919,0.993,0.999,19.72,"FamilyBased",".","ASD","WES",".","."]
[43,22542183,7,142912625,142912625,"C","T","DeNovo",".",".","7q34","exonic","TRPV5",56302,".","nonsynonymous SNV","TRPV5:NM_019841:exon13:c.G1645A:p.V549M",".",".","rs765394613",{"v":2.47e-05,"d":"2.47E-05"},0,0,0,0.0003,{"v":1.5E-5,"d":"1.50E-05"},0,0,".",".",".",".",".",".",0.012,"D",1,"D",0.997,"D",0.003,"N",0.991,"D",2.71,"M",-2.06,"D",-1.16,"N",0.521,5.698,26.8,0.999,0.771,"D",0.651,"D",0.789,"D",0.57,0,5.79,0.871,0.935,0.611,0.233,19.386,"FamilyBased",".","ASD","WES",".","."]
[44,22542183,2,135715632,135715632,"G","A","DeNovo",".",".","2q21.3","exonic","R3HDM1",23518,".","nonsynonymous SNV","R3HDM1:NM_001282799:exon20:c.G2330A:p.R777H,R3HDM1:NM_001282800:exon20:c.G2549A:p.R850H,R3HDM1:NM_001282798:exon23:c.G2717A:p.R906H,R3HDM1:NM_015361:exon23:c.G2714A:p.R905H",".",".","rs375783235",{"v":8.24e-06,"d":"8.24E-06"},0,0,0,0,{"v":1.5E-5,"d":"1.50E-05"},0,0,".",".",".",".",".",".",0.215,"T",0.999,"D",0.923,"D",0.003,"N",0.993,"D",1.845,"L",1.46,"T",-1.05,"N",0.193,2.53,19.66,0.932,0.978,"D",-1.02,"T",0.134,"T",0.719,0,2.95,0.917,-0.25,0.41,0.348,10.849,"FamilyBased",".","ASD","WES",".","."]
[46,22542183,10,96160376,96160376,"C","T","DeNovo",".",".","10q24.1","exonic","ZNF518A",9849,".","nonsynonymous SNV","ZNF518A:NM_001278525:exon6:c.C4054T:p.H1352Y,ZNF518A:NM_001330732:exon6:c.C4054T:p.H1352Y,ZNF518A:NM_001330735:exon6:c.C4054T:p.H1352Y,ZNF518A:NM_001330736:exon6:c.C4054T:p.H1352Y,ZNF518A:NM_014803:exon6:c.C4054T:p.H1352Y,ZNF518A:NM_001278524:exon7:c.C4054T:p.H1352Y,ZNF518A:NM_001278526:exon7:c.C2464T:p.H822Y,ZNF518A:NM_001330733:exon7:c.C4054T:p.H1352Y,ZNF518A:NM_001330734:exon7:c.C4054T:p.H1352Y,ZNF518A:NM_001330737:exon7:c.C4054T:p.H1352Y,ZNF518A:NM_001330738:exon7:c.C4054T:p.H1352Y",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",0.996,"D",".",".",".",".",".",".",".",".",".",".",".",1.288,12.21,0.872,0.988,"D",".",".",".",".",0.162,0,6.17,0.871,0.931,0.998,1,19.651,"FamilyBased",".","ASD","WES",".","."]
[49,22542183,12,52395784,52395784,"G","C","DeNovo",".",".","12q13.13","exonic","KRT82",3888,".","nonsynonymous SNV","KRT82:NM_033033:exon8:c.C1296G:p.C432W",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1E-3,"D",0.991,"D",0.792,"P",0,"D",0.993,"D",0,"N",-1.66,"D",-6.07,"D",0.726,4.794,24.7,0.992,0.141,"N",-0.303,"T",0.366,"T",0.526,0,-5.7,-0.31,-1.023,0.5,0.965,15.234,"FamilyBased",".","ASD","WES",".","."]
[50,22542183,8,140532572,140532572,"T","C","DeNovo",".",".","8q24.3","exonic","AGO2",27161,".","nonsynonymous SNV","AGO2:NM_001164623:exon17:c.A2213G:p.N738S,AGO2:NM_012154:exon18:c.A2315G:p.N772S",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.049,"D",0.612,"P",0.652,"P",0,"D",1,"D",1.405,"L",1.59,"T",-4.71,"D",0.159,4.588,24.4,0.999,0.995,"D",-0.992,"T",0.124,"T",0.707,0,5.86,0.991,1.061,1,1,16.255,"FamilyBased",".","ASD","WES",".","."]
[51,22542183,11,46385473,46385473,"G","A","DeNovo",".",".","11p11.2","exonic","CHRM4",1132,".","nonsynonymous SNV","CHRM4:NM_000741:exon1:c.C1085T:p.A362V",".",".","rs755530650",{"v":8.49E-6,"d":"8.49E-06"},0,0,0,0,{"v":1.52E-5,"d":"1.52E-05"},0,0,".",".",".",".",".",".",0.106,"T",0.741,"P",0.309,"B",".",".",0.805,"N",1.245,"L",0.26,"T",-1.19,"N",0.493,1.332,12.43,0.997,0.97,"D",-0.842,"T",0.16,"T",0.516,0,4.44,0.913,0.939,0.998,0.989,13.163,"FamilyBased",".","ASD","WES",".","."]
[52,22542183,4,158170315,158170315,"C","T","DeNovo",".",".","4q32.1","exonic","FAM198B",51313,".","nonsynonymous SNV","FAM198B:NM_001031700:exon3:c.G943A:p.A315T",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.365,"T",0.462,"P",0.131,"B",0.052,"N",1,"N",".",".",1.56,"T",0.69,"N",0.211,1.136,11.41,0.998,0.09,"N",-1.086,"T",0.048,"T",0.447,0,3.06,-0.064,0.852,0.003,0.017,6.713,"FamilyBased",".","ASD","WES",".","."]
[53,22542183,15,52593634,52593634,"G","C","DeNovo",".",".","15q21.2","exonic","FAM214A",56204,".","nonsynonymous SNV","FAM214A:NM_001286495:exon9:c.C2773G:p.P925A,FAM214A:NM_019600:exon10:c.C2752G:p.P918A",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1E-3,"D",1,"D",0.998,"D",0,"D",1,"D",2.2,"M",0.3,"T",-7.49,"D",0.932,5.485,26.2,0.996,0.992,"D",-0.228,"T",0.411,"T",0.732,0,5.8,0.917,1.048,0.996,1,20.059,"FamilyBased",".","ASD","WES",".","."]
[54,22542183,5,175683633,175683633,"C","T","DeNovo",".",".","5q35.2","exonic","HRH2",3274,".","nonsynonymous SNV","HRH2:NM_022304:exon1:c.C400T:p.R134W,HRH2:NM_001131055:exon2:c.C400T:p.R134W",".","ID=COSM1436106,COSM1436105;OCCURENCE=1(large_intestine)",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.009,"D",1,"D",0.999,"D",0,"D",1,"D",3.475,"M",1.01,"T",-6.87,"D",0.858,6.162,28.5,0.999,0.922,"D",-0.143,"T",0.346,"T",0.563,0,4.4,0.871,0.852,0.146,0.219,14.521,"FamilyBased",".","ASD","WES",".","."]
[55,22542183,15,40900841,40900841,"C","T","DeNovo",".",".","15q15.1","exonic","VPS18",57617,".","nonsynonymous SNV","VPS18:NM_020857:exon4:c.C2023T:p.R675W",".",".","rs750051348",{"v":5.77E-5,"d":"5.77E-05"},0,0.0003,0.0002,0,{"v":1.5E-5,"d":"1.50E-05"},0,{"v":6.06e-05,"d":"6.06E-05"},".",".",".",".",".",".",0.005,"D",0.626,"P",0.155,"B",0.003,"N",1,"D",1.735,"L",2.1,"T",-2.91,"D",0.285,6.133,28.4,0.999,0.902,"D",-1.122,"T",0.06,"T",0.707,0,5.93,0.871,0.935,0.988,0.823,20.344,"FamilyBased",".","ASD","WES",".","."]
[56,22542183,3,37327681,37327681,"T","C","DeNovo",".",".","3p22.2","exonic","GOLGA4",2803,".","nonsynonymous SNV","GOLGA4:NM_002078:exon14:c.T5795C:p.L1932S,GOLGA4:NM_001172713:exon15:c.T5861C:p.L1954S",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",0.998,"D",".",".",1,"D",2.36,"M",1.08,"T",-2.46,"N",0.764,5.051,25.2,0.997,0.997,"D",-0.592,"T",0.258,"T",0.707,0,4.63,0.991,1.051,0.016,0.425,14.052,"FamilyBased",".","ASD","WES",".","."]
[57,22542183,19,58498807,58498807,"G","T","DeNovo",".",".","19q13.43","exonic","SLC27A5",10998,".","nonsynonymous SNV","SLC27A5:NM_001321196:exon9:c.C1622A:p.T541N,SLC27A5:NM_012254:exon9:c.C1874A:p.T625N",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.207,"T",0.394,"B",0.112,"B",0.638,"N",1,"N",1.445,"L",2.83,"T",-0.92,"N",0.085,0.244,5.138,0.922,0.037,"N",-1.007,"T",0.087,"T",0.66,0,-6,0.009,-0.017,0.942,0.522,5.506,"FamilyBased",".","ASD","WES",".","."]
[58,22542183,11,5610833,5610833,"C","T","DeNovo",".",".","11p15.4","exonic","TRIM6",117854,".","nonsynonymous SNV","TRIM6:NM_001198645:exon6:c.C433T:p.R145W,TRIM6:NM_001198644:exon7:c.C433T:p.R145W,TRIM6:NM_001003818:exon8:c.C1042T:p.R348W,TRIM6:NM_058166:exon8:c.C958T:p.R320W",".","ID=COSM3666942;OCCURENCE=1(liver)","rs763790811",{"v":8.24e-06,"d":"8.24E-06"},0,0,1E-4,0,0,0,0,".",".",".",".",".",".",0.073,"T",0.975,"D",0.556,"P",".",".",1,"N",1.985,"M",3.57,"T",-3.48,"D",0.549,4.992,25.1,0.995,0.248,"N",-1.059,"T",0.021,"T",0.732,0,2.26,0.871,0.892,0.909,0.996,6.723,"FamilyBased",".","ASD","WES",".","."]
[59,22542183,22,50117297,50117297,"G","T","DeNovo",".",".","22q13.33","exonic","MOV10L1",54456,".","nonsynonymous SNV","MOV10L1:NM_001164104:exon9:c.G1400T:p.S467I,MOV10L1:NM_001164105:exon9:c.G1340T:p.S447I,MOV10L1:NM_018995:exon9:c.G1400T:p.S467I",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.301,"T",0.077,"B",0.019,"B",0.17,"N",1,"N",0.805,"L",-1.42,"T",-1.37,"N",0.421,0.256,5.255,0.83,0.101,"N",-0.775,"T",0.34,"T",0.646,0,0.79,-0.044,0.108,0.483,0.715,7.264,"FamilyBased",".","ASD","WES",".","."]
[60,22542183,5,142902001,142902001,"G","A","DeNovo",".",".","5q31.3","exonic","ARHGAP26",23092,".","nonsynonymous SNV","ARHGAP26:NM_001135608:exon7:c.G664A:p.G222R,ARHGAP26:NM_001349547:exon7:c.G556A:p.G186R,ARHGAP26:NM_015071:exon7:c.G664A:p.G222R","Leukemia, juvenile myelomonocytic, somatic","ID=COSM3209544;OCCURENCE=1(central_nervous_system)","rs148543665",{"v":1.65e-05,"d":"1.65E-05"},0,0,1E-4,0,{"v":1.5E-5,"d":"1.50E-05"},0,0,".",".",".",".",".",".",0.556,"T",0.942,"P",0.584,"P",0.004,"N",0.714,"N",-0.805,"N",3.71,"T",0.44,"N",0.275,1.99,16.15,0.983,0.554,"D",-0.928,"T",0.007,"T",0.706,0,-1.85,-0.23,0.135,0.97,0.978,11.935,"FamilyBased",".","ASD","WES",".","."]
[62,22542183,12,6643547,6643547,"C","T","DeNovo",".",".","12p13.31","exonic","ACRBP",84519,".","nonsynonymous SNV","ACRBP:NM_032489:exon6:c.G1069A:p.G357R",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.008,"D",1,"D",0.918,"D",0.06,"N",0.993,"D",1.79,"L",0.73,"T",-2.55,"D",0.601,5.69,26.8,0.993,0.714,"D",-0.666,"T",0.231,"T",0.609,0,4.44,0.033,0.935,0.196,0.949,12.275,"FamilyBased",".","ASD","WES",".","."]
[65,22542183,19,51127978,51127978,"G","A","DeNovo",".",".","19q13.41","exonic","SIGLEC9",27180,".","nonsynonymous SNV","SIGLEC9:NM_001198558:exon5:c.G1045A:p.V349M,SIGLEC9:NM_014441:exon5:c.G1045A:p.V349M",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.03,"D",0.94,"P",0.332,"B",0.925,"N",1,"N",0,"N",3.56,"T",-0.65,"N",0.053,2.977,22.2,0.912,0.067,"N",-1.014,"T",0.017,"T",0.487,0,1.44,0.034,0.064,0.007,1E-3,4.641,"FamilyBased",".","ASD","WES",".","."]
[69,22542183,5,133067447,133067447,"G","A","DeNovo",".",".","5q31.1","exonic","HSPA4",3308,".","nonsynonymous SNV","HSPA4:NM_002154:exon3:c.G196A:p.G66R",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.004,"D",0.946,"P",0.662,"P",0,"D",1,"D",2.035,"M",5.48,"T",-4.39,"D",0.78,6.64,32,0.999,0.976,"D",-0.915,"T",0.009,"T",0.707,0,5.97,0.917,1.048,0.995,0.996,14.027,"FamilyBased",".","ASD","WES",".","."]
[72,22542183,22,36932891,36932891,"C","T","DeNovo",".",".","22q12.3","exonic","CSF2RB",1439,".","nonsynonymous SNV","CSF2RB:NM_000395:exon9:c.C1139T:p.T380M","Surfactant metabolism dysfunction, pulmonary, 5, Autosomal recessive",".","rs772296886",{"v":2.48E-5,"d":"2.48E-05"},0,0,0,0,{"v":3.01E-5,"d":"3.01E-05"},0,{"v":6.08e-05,"d":"6.08E-05"},".",".",".",".",".",".",0.159,"T",0.715,"P",0.092,"B",0.383,"N",1,"N",0.805,"L",0.36,"T",-1.32,"N",0.069,0.483,7.297,0.921,0.045,"N",-1.028,"T",0.07,"T",0.707,0,-3.55,-0.041,2E-3,1E-3,0,1.227,"FamilyBased",".","ASD","WES",".","."]
[74,22542183,12,56310977,56310977,"T","G","DeNovo",".",".","12q13.3","exonic","CNPY2",10330,".","nonsynonymous SNV","CNPY2:NM_014255:exon5:c.A486C:p.K162N",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.019,"D",0.094,"B",0.029,"B",0,"D",1,"D",2.545,"M",1.22,"T",-2.95,"D",0.246,4.178,23.8,0.993,0.82,"D",-1.031,"T",0.099,"T",0.672,0,2.92,0.673,1.061,1,1,9.365,"FamilyBased",".","ASD","WES",".","."]
[75,22542183,5,132861753,132861753,"T","C","DeNovo",".",".","5q31.1","exonic","GDF9",2661,".","nonsynonymous SNV","GDF9:NM_005260:exon2:c.A1201G:p.M401V,GDF9:NM_001288824:exon3:c.A937G:p.M313V,GDF9:NM_001288825:exon4:c.A937G:p.M313V,GDF9:NM_001288826:exon4:c.A937G:p.M313V,GDF9:NM_001288827:exon4:c.A937G:p.M313V,GDF9:NM_001288828:exon4:c.A937G:p.M313V",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.092,"T",0.008,"B",0.023,"B",0,"N",0.999,"D",0.155,"N",-1.55,"D",-0.59,"N",0.303,0.626,8.334,0.864,0.905,"D",-0.908,"T",0.257,"T",0.549,0,2.29,0.991,0.144,0.999,0.998,7.314,"FamilyBased",".","ASD","WES",".","."]
[78,22542183,19,35859532,35859532,"A","T","DeNovo",".",".","19q13.12","exonic","KIRREL2",84063,".","nonsynonymous SNV","KIRREL2:NM_001329530:exon4:c.A424T:p.T142S,KIRREL2:NM_199179:exon4:c.A424T:p.T142S,KIRREL2:NM_032123:exon5:c.A574T:p.T192S,KIRREL2:NM_199180:exon5:c.A574T:p.T192S",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.582,"T",0.999,"D",0.992,"D",1E-3,"D",1,"D",0.955,"L",-1.04,"T",-0.99,"N",0.344,2.453,19.17,0.98,0.948,"D",-0.595,"T",0.423,"T",0.677,0,4.85,1.062,1.079,0.772,0.942,11.063,"FamilyBased",".","ASD","WES",".","."]
[80,22542183,19,41294573,41294573,"C","T","DeNovo",".",".","19q13.2","exonic","HNRNPUL1",11100,".","nonsynonymous SNV","HNRNPUL1:NM_001301016:exon10:c.C1138T:p.R380W,HNRNPUL1:NM_001321208:exon10:c.C1105T:p.R369W,HNRNPUL1:NM_001321211:exon10:c.C1105T:p.R369W,HNRNPUL1:NM_007040:exon10:c.C1405T:p.R469W,HNRNPUL1:NM_144732:exon10:c.C1105T:p.R369W",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",2E-3,"D",1,"D",0.978,"D",0,"D",1,"D",2.9,"M",0.88,"T",-6.96,"D",0.902,6.362,29.4,0.999,0.966,"D",-0.383,"T",0.286,"T",0.672,0,4.48,-0.044,0.02,0.978,0.988,12.78,"FamilyBased",".","ASD","WES",".","."]
[83,22542183,12,120137974,120137974,"C","T","DeNovo",".",".","12q24.23","exonic","GCN1",10985,".","nonsynonymous SNV","GCN1:NM_006836:exon48:c.G6320A:p.R2107H",".",".","rs201734893",0.0004,0,0.0008,0.0005,0,0.0005,0,0,".",".",".",".",".",".",0.007,"D",0.999,"D",0.799,"P",0,"D",1,"D",2.63,"M",-0.17,"T",-3.39,"D",0.668,7.9,35,0.999,0.981,"D",-0.18,"T",0.386,"T",0.707,0,5.51,0.871,0.919,0.998,0.998,12.723,"FamilyBased",".","ASD","WES",".","."]
[84,22542183,5,11017999,11017999,"C","T","DeNovo",".",".","5p15.2","exonic","CTNND2",1501,".","nonsynonymous SNV","CTNND2:NM_001288716:exon15:c.G2048A:p.R683Q,CTNND2:NM_001288715:exon17:c.G2786A:p.R929Q,CTNND2:NM_001288717:exon17:c.G1760A:p.R587Q,CTNND2:NM_001332:exon18:c.G3059A:p.R1020Q",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.136,"T",0.999,"D",0.978,"D",0,"D",1,"D",0.945,"L",0.8,"T",-1.18,"N",0.815,5.373,25.9,0.999,0.989,"D",-0.709,"T",0.232,"T",0.744,0,6.17,0.871,0.935,0.996,0.977,20.879,"FamilyBased",".","ASD","WES",".","."]
[86,22542183,9,128123744,128123744,"T","A","DeNovo",".",".","9q34.11","exonic","PTGES2",80142,".","nonsynonymous SNV","PTGES2:NM_025072:exon4:c.A644T:p.E215V,PTGES2:NM_001256335:exon5:c.A71T:p.E24V,PTGES2:NM_198938:exon5:c.A71T:p.E24V",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.01,"D",0.469,"P",0.16,"B",0,"D",1,"D",2.25,"M",0.79,"T",-2.64,"D",0.565,4.549,24.3,0.989,0.991,"D",-0.814,"T",0.161,"T",0.707,0,5.64,0.991,1.061,0.895,0.895,15.024,"FamilyBased",".","ASD","WES",".","."]
[87,22542183,9,124327406,124327406,"C","T","DeNovo",".",".","9q33.3","exonic","NEK6",10783,".","nonsynonymous SNV","NEK6:NM_001166167:exon7:c.C637T:p.R213C,NEK6:NM_001166168:exon7:c.C583T:p.R195C,NEK6:NM_001166169:exon7:c.C658T:p.R220C,NEK6:NM_001166170:exon7:c.C583T:p.R195C,NEK6:NM_014397:exon7:c.C583T:p.R195C,NEK6:NM_001145001:exon8:c.C685T:p.R229C,NEK6:NM_001166171:exon8:c.C685T:p.R229C",".",".","rs768356782",{"v":8.25e-06,"d":"8.25E-06"},0,0,0,0,{"v":1.5E-5,"d":"1.50E-05"},0,0,".",".",".",".",".",".",0.003,"D",1,"D",0.997,"D",0,"D",1,"D",2.62,"M",2.9,"T",-7.25,"D",0.955,7.655,35,0.999,0.948,"D",-0.306,"T",0.326,"T",0.672,0,5.06,0.871,0.935,0.999,1,14.227,"FamilyBased",".","ASD","WES",".","."]
[88,22542183,7,130298747,130298747,"G","T","DeNovo",".",".","7q32.2","exonic","CPA4",51200,".","nonsynonymous SNV","CPA4:NM_001163446:exon2:c.G70T:p.D24Y,CPA4:NM_016352:exon2:c.G70T:p.D24Y",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.004,"D",0.998,"D",0.871,"P",0,"D",1,"D",1.845,"L",1.18,"T",-3.87,"D",0.705,5.269,25.7,0.993,0.756,"D",-0.894,"T",0.132,"T",0.693,0,2.75,-0.044,1.048,0.944,0.997,14.262,"FamilyBased",".","ASD","WES",".","."]
[89,22542183,11,18036120,18036120,"T","G","DeNovo",".",".","11p15.1","exonic","TPH1",7166,".","nonsynonymous SNV","TPH1:NM_004179:exon2:c.A140C:p.H47P",".",".","rs765081542",{"v":4.29e-05,"d":"4.29E-05"},0,0,0,0,{"v":7.86E-5,"d":"7.86E-05"},0,0,".",".",".",".",".",".",0,"D",1,"D",0.998,"D",0,"D",1,"D",3.375,"M",-4.98,"D",-9.25,"D",0.962,5.854,27.3,0.988,0.984,"D",1.091,"D",0.971,"D",0.554,0,5.51,0.991,1.061,0.952,0.944,15.912,"FamilyBased",".","ASD","WES",".","."]
[90,22542183,6,146801237,146801237,"T","G","DeNovo",".",".","6q24.3","exonic","ADGB",79747,".","nonsynonymous SNV","ADGB:NM_024694:exon34:c.T4592G:p.I1531S",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.009,"D",0.998,"D",0.917,"D",".",".",1,"N",0.55,"N",1.49,"T",-0.58,"N",0.534,1.551,13.58,0.986,0.554,"D",-1.045,"T",0.092,"T",0.487,0,3.7,0.673,0.913,0.893,0.622,9.076,"FamilyBased",".","ASD","WES",".","."]
[91,22542183,19,17207235,17207235,"A","G","DeNovo",".",".","19p13.11","exonic","MYO9B",4650,".","nonsynonymous SNV","MYO9B:NM_001130065:exon35:c.A5615G:p.K1872R,MYO9B:NM_004145:exon35:c.A5615G:p.K1872R",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.367,"T",0.998,"D",0.987,"D",0,"D",0.995,"D",1.35,"L",1.97,"T",-2.11,"N",0.239,3.784,23.4,0.997,0.944,"D",-0.92,"T",0.174,"T",0.707,0,4.14,1.062,1.024,0.763,0.997,12.335,"FamilyBased",".","ASD","WES",".","."]
[96,22542183,1,153003241,153003241,"G","C","DeNovo",".",".","1q21.3","exonic","SPRR3",6707,".","nonsynonymous SNV","SPRR3:NM_001097589:exon2:c.G221C:p.C74S,SPRR3:NM_005416:exon3:c.G221C:p.C74S",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.398,"T",0.01,"B",0.013,"B",".",".",1,"N",0.55,"N",2.72,"T",1.39,"N",0.34,-1.61,2E-3,0.326,0.013,"N",-0.915,"T",0.006,"T",0.487,0,-3.63,-0.838,-1.505,0,0,10.216,"FamilyBased",".","ASD","WES",".","."]
[97,22542183,"X",41727579,41727579,"A","C","DeNovo",".",".","Xp11.4","exonic","GPR82",27197,".","nonsynonymous SNV","GPR82:NM_080817:exon3:c.A553C:p.S185R",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.585,"T",0,"B",2E-3,"B",0.941,"N",1,"N",1.525,"L",1.16,"T",-0.64,"N",0.127,-2.35,1E-3,0.337,0.046,"N",-0.98,"T",0.071,"T",".",".",-1.01,0.126,-0.148,1E-3,0.035,5.356,"FamilyBased",".","ASD","WES",".","."]
[99,22542183,14,24119799,24119799,"G","A","DeNovo",".",".","14q12","exonic","DCAF11",80344,".","nonsynonymous SNV","DCAF11:NM_001163484:exon11:c.G995A:p.C332Y,DCAF11:NM_025230:exon11:c.G995A:p.C332Y,DCAF11:NM_181357:exon11:c.G917A:p.C306Y",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.003,"D",1,"D",0.992,"D",0,"D",1,"D",3.165,"M",0.19,"T",-8.08,"D",0.959,6.335,29.3,0.998,0.984,"D",0.086,"D",0.488,"T",0.707,0,5.97,0.917,1.044,1,1,17.922,"FamilyBased",".","ASD","WES",".","."]
[100,22542183,8,144359655,144359655,"G","C","DeNovo",".",".","8q24.3","exonic","SLC52A2",79581,".","nonsynonymous SNV","SLC52A2:NM_001253815:exon3:c.G163C:p.V55L,SLC52A2:NM_001253816:exon3:c.G163C:p.V55L,SLC52A2:NM_024531:exon3:c.G163C:p.V55L","Brown-Vialetto-Van Laere syndrome 2, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.01,"D",0.894,"P",0.437,"B",0,"D",1,"D",2.67,"M",-0.71,"T",-1.1,"N",0.3,3.78,23.4,0.992,0.883,"D",-0.438,"T",0.326,"T",0.767,0,3.7,0.917,1.048,0.986,0.816,6.946,"FamilyBased",".","ASD","WES",".","."]
[101,22542183,7,143053022,143053022,"T","G","DeNovo",".",".","7q34","exonic","OR6V1",346517,".","nonsynonymous SNV","OR6V1:NM_001001667:exon1:c.T682G:p.S228A",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.003,"D",0.971,"D",0.765,"P",".",".",0.996,"N",2.27,"M",8.1,"T",-2.65,"D",0.305,4.187,23.8,0.994,0.557,"D",-0.86,"T",2E-3,"T",0.487,0,4.72,0.755,0.891,0.691,0.154,12.193,"FamilyBased",".","ASD","WES",".","."]
[102,22542183,12,132203573,132203573,"G","A","DeNovo",".",".","12q24.33","exonic","GALNT9",50614,".","nonsynonymous SNV","GALNT9:NM_021808:exon3:c.C97T:p.R33C,GALNT9:NM_001122636:exon7:c.C1195T:p.R399C",".",".","rs758686830",{"v":1.66E-5,"d":"1.66E-05"},0,0,0,0,{"v":1.51e-05,"d":"1.51E-05"},0,{"v":6.06e-05,"d":"6.06E-05"},".",".",".",".",".",".",0,"D",1,"D",1,"D",0,"D",1,"D",2.905,"M",1.25,"T",-6.86,"D",0.979,6.185,28.6,0.999,0.855,"D",0.118,"D",0.532,"D",0.646,0,1.33,-0.295,0.771,0.973,0.971,11.788,"FamilyBased",".","ASD","WES",".","."]
[104,22542183,16,1460885,1460885,"G","T","DeNovo",".",".","16p13.3","exonic","CLCN7",1186,".","nonsynonymous SNV","CLCN7:NM_001114331:exon4:c.C343A:p.L115I,CLCN7:NM_001287:exon5:c.C415A:p.L139I","Osteopetrosis, autosomal dominant 2, Autosomal dominant;Osteopetrosis, autosomal recessive 4",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.118,"T",0.911,"P",0.298,"B",0,"D",1,"D",0.965,"L",-2.25,"D",-0.65,"N",0.459,3.196,22.7,0.995,0.98,"D",-0.185,"T",0.436,"T",0.707,0,3.73,0.917,0.902,0.997,0.948,11.991,"FamilyBased",".","ASD","WES",".","."]
[106,22542183,11,66287861,66287861,"G","A","DeNovo",".",".","11q13.2","exonic","YIF1A",10897,".","nonsynonymous SNV","YIF1A:NM_001300861:exon3:c.C299T:p.A100V,YIF1A:NM_020470:exon3:c.C299T:p.A100V",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.466,"T",0.099,"B",0.101,"B",0,"D",1,"D",0.44,"N",0.91,"T",-1.13,"N",0.147,2.723,20.9,0.985,0.745,"D",-1.068,"T",0.071,"T",0.644,0,5.5,0.069,1.048,0.957,1,11.97,"FamilyBased",".","ASD","WES",".","."]
[107,22542183,4,75655166,75655166,"A","G","DeNovo",".",".","4q21.1","exonic","G3BP2",9908,".","nonsynonymous SNV","G3BP2:NM_012297:exon7:c.T626C:p.L209P,G3BP2:NM_203504:exon7:c.T626C:p.L209P,G3BP2:NM_203505:exon7:c.T626C:p.L209P",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.334,"T",0.883,"P",0.439,"B",0.032,"N",1,"D",-0.975,"N",-1.07,"T",2.48,"N",0.399,1.647,14.11,0.977,0.885,"D",-0.876,"T",0.161,"T",0.707,0,3.76,1.062,1.199,0.997,0.991,8.065,"FamilyBased",".","ASD","WES",".","."]
[108,22542183,7,30061921,30061921,"A","G","DeNovo",".",".","7p14.3","exonic","PLEKHA8",84725,".","nonsynonymous SNV","PLEKHA8:NM_001197026:exon11:c.A1123G:p.N375D,PLEKHA8:NM_001197027:exon11:c.A1123G:p.N375D,PLEKHA8:NM_001350973:exon11:c.A1123G:p.N375D,PLEKHA8:NM_001350974:exon11:c.A1123G:p.N375D,PLEKHA8:NM_001350975:exon11:c.A526G:p.N176D,PLEKHA8:NM_032639:exon11:c.A1123G:p.N375D",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"T",0.996,"D",0.987,"D",0,"D",0.925,"D",-0.325,"N",".",".",0.61,"N",0.133,1.511,13.37,0.897,0.847,"D",-0.916,"T",0.132,"T",0.622,0,5.57,1.062,1.199,1,1,14.56,"FamilyBased",".","ASD","WES",".","."]
[110,22542183,12,132032121,132032121,"G","A","DeNovo",".",".","12q24.33","exonic","EP400",57634,".","nonsynonymous SNV","EP400:NM_015409:exon30:c.G5923A:p.G1975R",".","ID=COSM375390;OCCURENCE=1(lung)",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",1,"D",0,"D",1,"D",3.265,"M",-3.97,"D",-7,"D",0.868,4.915,25,0.841,0.995,"D",1.084,"D",0.954,"D",0.707,0,5.9,0.917,1.048,0.997,0.599,20.272,"FamilyBased",".","ASD","WES",".","."]
[111,22542183,6,69324923,69324923,"T","A","DeNovo",".",".","6q13","exonic","ADGRB3",577,".","nonsynonymous SNV","ADGRB3:NM_001704:exon21:c.T2866A:p.F956I",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",0.999,"D",0,"D",1,"D",3.795,"H",-0.01,"T",-4.99,"D",0.96,7.067,33,0.992,0.985,"D",0.355,"D",0.538,"D",0.554,0,6.07,0.991,1.061,1,0.991,16.641,"FamilyBased",".","ASD","WES",".","."]
[113,22542183,4,3766938,3766938,"A","G","DeNovo",".",".","4p16.3","exonic","ADRA2C",152,".","nonsynonymous SNV","ADRA2C:NM_000683:exon1:c.A332G:p.N111S",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1E-3,"D",1,"D",0.996,"D",".",".",1,"D",1.89,"L",1.19,"T",-4.68,"D",0.162,4.012,23.6,0.997,0.888,"D",-0.853,"T",0.168,"T",0.726,0,1.95,1.062,0.931,0.998,0.99,7.785,"FamilyBased",".","ASD","WES",".","."]
[115,22542183,14,23386060,23386060,"C","G","DeNovo",".",".","14q11.2","exonic","MYH6",4624,".","nonsynonymous SNV","MYH6:NM_002471:exon34:c.G5031C:p.E1677D","Atrial septal defect 3;Cardiomyopathy, dilated, 1EE;Cardiomyopathy, hypertrophic, 14",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.049,"D",0.005,"B",0.047,"B",".",".",0.984,"D",2.93,"M",-1.57,"D",-1.71,"N",0.156,3.641,23.2,0.989,0.537,"D",-0.402,"T",0.5,"D",0.622,0,-2.1,-0.751,0.024,0.983,0.998,6.756,"FamilyBased",".","ASD","WES",".","."]
[116,22542183,15,101068817,101068817,"G","A","DeNovo",".",".","15q26.3","exonic","LRRK1",79705,".","nonsynonymous SNV","LRRK1:NM_024652:exon34:c.G6017A:p.R2006Q",".",".","rs377568599",{"v":8.57e-06,"d":"8.57E-06"},0,{"v":8.68e-05,"d":"8.68E-05"},0,0,0,0,0,".",".",".",".",".",".",0.011,"D",1,"D",0.92,"D",0,"D",1,"D",1.905,"M",-1.01,"T",-0.68,"N",0.815,8.015,35,1,0.958,"D",0.208,"D",0.598,"D",0.672,0,5.83,0.917,1.048,0.99,1,20.121,"FamilyBased",".","ASD","WES",".","."]
[117,22542183,5,115284875,115284875,"G","C","DeNovo",".",".","5q22.3","exonic","CCDC112",153733,".","nonsynonymous SNV","CCDC112:NM_001040440:exon2:c.C151G:p.R51G",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.008,"D",0.712,"P",0.438,"B",0.003,"N",1,"D",".",".",1.98,"T",-1.72,"N",0.282,6.433,29.8,0.997,0.94,"D",-1.144,"T",0.07,"T",0.706,0,5.57,0.917,1.048,0.998,1,14.729,"FamilyBased",".","ASD","WES",".","."]
[118,22542183,20,17947542,17947542,"G","A","DeNovo",".",".","20p11.23","exonic","SNX5",27131,".","nonsynonymous SNV","SNX5:NM_001282454:exon11:c.C707T:p.A236V,SNX5:NM_014426:exon11:c.C1022T:p.A341V,SNX5:NM_152227:exon12:c.C1022T:p.A341V",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.197,"T",0.082,"B",0.099,"B",0.024,"N",0.971,"N",0.97,"L",-0.07,"T",-1.54,"N",0.187,2.742,21,0.985,0.933,"D",-0.951,"T",0.15,"T",0.722,0,4.35,0.917,0.108,0.974,0.876,5.759,"FamilyBased",".","ASD","WES",".","."]
[119,22542183,15,26583387,26583387,"C","T","DeNovo",".",".","15q12","exonic","GABRB3",2562,".","nonsynonymous SNV","GABRB3:NM_001191320:exon3:c.G234A:p.M78I,GABRB3:NM_001191321:exon3:c.G276A:p.M92I,GABRB3:NM_000814:exon5:c.G489A:p.M163I,GABRB3:NM_021912:exon5:c.G489A:p.M163I,GABRB3:NM_001278631:exon6:c.G234A:p.M78I","Epileptic encephalopathy, early infantile, 43, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",0.994,"D",0,"D",1,"D",3.665,"H",-1.14,"T",-3.53,"D",0.878,4.484,24.3,0.998,0.984,"D",0.743,"D",0.733,"D",0.732,0,4.76,0.871,0.935,1,0.985,17.112,"FamilyBased",".","ASD","WES",".","."]
[120,22542183,19,6906433,6906433,"G","C","DeNovo",".",".","19p13.2","exonic","ADGRE1",2015,".","nonsynonymous SNV","ADGRE1:NM_001256254:exon6:c.G527C:p.R176T,ADGRE1:NM_001256255:exon6:c.G419C:p.R140T,ADGRE1:NM_001256252:exon8:c.G794C:p.R265T,ADGRE1:NM_001256253:exon9:c.G950C:p.R317T,ADGRE1:NM_001974:exon9:c.G950C:p.R317T",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.313,"T",0.998,"D",0.99,"D",".",".",1,"N",2.215,"M",0.35,"T",-2.14,"N",0.429,2.704,20.8,0.956,0.035,"N",-0.46,"T",0.55,"D",0.554,0,1.91,0.373,0.884,0.287,0.579,8.017,"FamilyBased",".","ASD","WES",".","."]
[121,22542183,3,185491643,185491643,"A","G","DeNovo",".",".","3q27.2","exonic","TMEM41A",90407,".","nonsynonymous SNV","TMEM41A:NM_080652:exon5:c.T689C:p.M230T",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.148,"T",0,"B",1E-3,"B",0.16,"N",1,"D",0.895,"L",".",".",-1.71,"N",0.216,2.198,17.5,0.982,0.951,"D",-0.914,"T",0.182,"T",0.732,0,6.08,1.062,1.194,0.966,0.964,16.643,"FamilyBased",".","ASD","WES",".","."]
[122,22542183,4,70644180,70644180,"G","T","DeNovo",".",".","4q13.3","exonic","ENAM",10117,".","nonsynonymous SNV","ENAM:NM_031889:exon9:c.G2754T:p.Q918H","Amelogenesis imperfecta, type IB, Autosomal dominant;Amelogenesis imperfecta, type IC, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"T",0,"B",0,"B",0.051,"N",1,"N",-2.69,"N",1.9,"T",5.75,"N",0.063,-2.957,1E-3,0.088,2E-3,"N",-0.947,"T",0.008,"T",0.516,0,1.03,-0.78,-0.248,0.004,0.049,4.284,"FamilyBased",".","ASD","WES",".","."]
[123,22542183,1,43364631,43364631,"C","T","DeNovo",".",".","1p34.2","exonic","ELOVL1",64834,".","nonsynonymous SNV","ELOVL1:NM_001256401:exon5:c.G311A:p.R104Q,ELOVL1:NM_001256402:exon5:c.G149A:p.R50Q,ELOVL1:NM_001256399:exon6:c.G392A:p.R131Q,ELOVL1:NM_022821:exon6:c.G392A:p.R131Q",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",0.998,"D",0,"D",1,"D",3.58,"H",1.78,"T",-3.85,"D",0.9,6.736,32,0.999,0.931,"D",-0.35,"T",0.273,"T",0.722,0,5.88,0.871,0.852,0.989,0.994,20.242,"FamilyBased",".","ASD","WES",".","."]
[126,22542183,7,101447724,101447724,"C","T","DeNovo",".",".","7q22.1","exonic","COL26A1",136227,".","nonsynonymous SNV","COL26A1:NM_001278563:exon3:c.C322T:p.R108C,COL26A1:NM_133457:exon3:c.C316T:p.R106C",".","ID=COSM3781233;OCCURENCE=1(pancreas)","rs199640859",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",0.987,"D",2E-3,"N",0.973,"D",1.7,"L",0.87,"T",-5.2,"D",0.914,7.876,35,0.999,0.892,"D",-0.702,"T",0.203,"T",0.185,2,4.96,0.871,0.852,0.998,0.953,10.895,"FamilyBased",".","ASD","WES",".","."]
[131,22542183,10,102148851,102148851,"C","T","DeNovo",".",".","10q24.32","exonic","PPRC1",23082,".","nonsynonymous SNV","PPRC1:NM_001288727:exon10:c.C3860T:p.P1287L,PPRC1:NM_001288728:exon12:c.C4286T:p.P1429L,PPRC1:NM_015062:exon12:c.C4652T:p.P1551L",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.005,"D",0.999,"D",0.951,"D",0,"D",1,"D",2.075,"M",0.35,"T",-2.74,"D",0.679,5.44,26.1,0.999,0.853,"D",-0.404,"T",0.308,"T",0.672,0,5.73,0.871,0.776,0.998,0.998,14.709,"FamilyBased",".","ASD","WES",".","."]
[132,22542183,1,209650014,209650014,"A","C","DeNovo",".",".","1q32.2","exonic","LAMB3",3914,".","nonsynonymous SNV","LAMB3:NM_001017402:exon2:c.T133G:p.S45A,LAMB3:NM_000228:exon3:c.T133G:p.S45A,LAMB3:NM_001127641:exon3:c.T133G:p.S45A","Amelogenesis imperfecta, type IA, Autosomal dominant;Epidermolysis bullosa, junctional, Herlitz type, Autosomal recessive;Epidermolysis bullosa, junctional, non-Herlitz type, Autosomal recessive",".","rs796051883",".",".",".",".",".",".",".",".",".","Uncertain significance","Autism","RCV000186216.1","Human_Phenotype_Ontology:MedGen","HP:0000717:CN000674",0.006,"D",1,"D",0.997,"D",0,"D",1,"D",1.55,"L",-0.93,"T",-2.62,"D",0.651,5.305,25.8,0.997,0.827,"D",-0.033,"T",0.501,"D",0.539,0,5.39,1.062,1.199,0.993,0.977,14.461,"FamilyBased",".","ASD","WES",".","."]
[135,22542183,3,53673125,53673125,"G","A","DeNovo",".",".","3p21.1","exonic","CACNA1D",776,".","nonsynonymous SNV","CACNA1D:NM_001128839:exon8:c.G1219A:p.G407R,CACNA1D:NM_001128840:exon8:c.G1219A:p.G407R","Primary aldosteronism, seizures, and neurologic abnormalities, Autosomal dominant;Sinoatrial node dysfunction and deafness, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.006,"D",1,"D",0.985,"D",".",".",1,"D",3.515,"H",-4.38,"D",-6.83,"D",0.948,2.222,17.65,0.998,0.991,"D",1.088,"D",0.964,"D",0.487,0,5.55,0.917,1.045,1,1,19.749,"FamilyBased",".","ASD","WES",".","."]
[137,22542183,12,57735382,57735382,"G","A","DeNovo",".",".","12q14.1","exonic","AGAP2",116986,".","nonsynonymous SNV","AGAP2:NM_001122772:exon2:c.C1214T:p.P405L,AGAP2:NM_014770:exon2:c.C206T:p.P69L",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.041,"D",1,"D",0.992,"D",0,"D",1,"D",0.975,"L",1.89,"T",-6.67,"D",0.42,5.171,25.5,0.997,0.847,"D",-1.085,"T",0.097,"T",0.563,0,3.77,0.917,1.036,0.992,1,11.532,"FamilyBased",".","ASD","WES",".","."]
[138,22542183,12,57737346,57737346,"G","C","DeNovo",".",".","12q14.1","exonic","AGAP2",116986,".","nonsynonymous SNV","AGAP2:NM_001122772:exon1:c.C901G:p.P301A",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.006,"D",1E-3,"B",2E-3,"B",0.032,"N",1,"N",0,"N",1.43,"T",-0.45,"N",0.232,-2.725,1E-3,0.799,0.069,"N",-1.031,"T",0.045,"T",0.598,0,1.89,0.009,-1.039,1E-3,0,4.691,"FamilyBased",".","ASD","WES",".","."]
[139,22542183,22,20949765,20949765,"G","A","DeNovo",".",".","22q11.21","exonic","CRKL",1399,".","nonsynonymous SNV","CRKL:NM_005207:exon3:c.G832A:p.E278K",".","ID=COSM1032396;OCCURENCE=1(endometrium),1(large_intestine)",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.008,"D",0.999,"D",0.989,"D",0,"D",1,"D",1.38,"L",1.52,"T",-3.13,"D",0.919,7.366,34,0.999,0.972,"D",-0.938,"T",0.151,"T",0.722,0,5.31,0.917,0.902,0.996,0.983,16.474,"FamilyBased",".","ASD","WES",".","."]
[140,22542183,19,43996216,43996216,"A","G","DeNovo",".",".","19q13.31","exonic","ZNF155",7711,".","nonsynonymous SNV","ZNF155:NM_001260486:exon5:c.A359G:p.N120S,ZNF155:NM_001260487:exon5:c.A359G:p.N120S,ZNF155:NM_003445:exon5:c.A359G:p.N120S,ZNF155:NM_198089:exon5:c.A359G:p.N120S,ZNF155:NM_001260488:exon6:c.A392G:p.N131S",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.155,"T",0.016,"B",0.018,"B",".",".",1,"N",0.895,"L",5.57,"T",-2.57,"D",0.018,-1.708,2E-3,0.523,0.018,"N",-0.906,"T",0.011,"T",0.651,0,-0.216,0.126,1.088,2E-3,0.008,6.088,"FamilyBased",".","ASD","WES",".","."]
[144,22542183,1,114739826,114739826,"G","C","DeNovo",".",".","1p13.2","exonic","CSDE1",7812,".","nonsynonymous SNV","CSDE1:NM_001242892:exon2:c.C65G:p.A22G,CSDE1:NM_001242893:exon2:c.C65G:p.A22G,CSDE1:NM_001007553:exon3:c.C65G:p.A22G,CSDE1:NM_007158:exon3:c.C65G:p.A22G,CSDE1:NM_001130523:exon4:c.C203G:p.A68G,CSDE1:NM_001242891:exon4:c.C203G:p.A68G",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.241,"T",0.651,"P",0.154,"B",0,"D",1,"D",-0.345,"N",".",".",-0.98,"N",0.301,2.668,20.6,0.99,0.939,"D",-1.049,"T",0.047,"T",0.719,0,5.81,0.917,0.998,1,1,20.076,"FamilyBased",".","ASD","WES",".","."]
[145,22542183,9,125350333,125350333,"C","T","DeNovo",".",".","9q33.3","exonic","GAPVD1",26130,".","nonsynonymous SNV","GAPVD1:NM_001282681:exon19:c.C3275T:p.A1092V,GAPVD1:NM_001330778:exon19:c.C3257T:p.A1086V,GAPVD1:NM_001330777:exon20:c.C3194T:p.A1065V,GAPVD1:NM_015635:exon21:c.C3419T:p.A1140V,GAPVD1:NM_001282679:exon22:c.C3392T:p.A1131V,GAPVD1:NM_001282680:exon22:c.C3338T:p.A1113V",".",".","rs371655981",{"v":1.65e-05,"d":"1.65E-05"},0,0,0,0,{"v":3e-05,"d":"3.00E-05"},0,0,".",".",".",".",".",".",0.312,"T",0.751,"P",0.319,"B",0,"D",1,"D",1.185,"L",2.48,"T",-2.1,"N",0.793,6.221,28.8,0.999,0.988,"D",-1.156,"T",0.038,"T",0.707,0,5.94,0.871,0.935,0.996,0.997,19.347,"FamilyBased",".","ASD","WES",".","."]
[146,22542183,19,39886390,39886390,"C","T","DeNovo",".",".","19q13.2","exonic","FCGBP",8857,".","nonsynonymous SNV","FCGBP:NM_003890:exon17:c.G7789A:p.D2597N",".",".","rs756560346",{"v":2.47e-05,"d":"2.47E-05"},0.0002,0,0,0,{"v":1.5E-5,"d":"1.50E-05"},0,0,".",".",".",".",".",".",".",".",2E-3,"B",2E-3,"B",".",".",1,"N",0.54,"N",".",".",".",".",0.035,2.925,22,0.994,0.014,"N",-0.981,"T",0.075,"T",0.554,0,-3.61,-0.501,0.64,0.224,0.985,5.909,"FamilyBased",".","ASD","WES",".","."]
[148,22542183,3,129584162,129584162,"C","A","DeNovo",".",".","3q22.1","exonic","PLXND1",23129,".","nonsynonymous SNV","PLXND1:NM_015103:exon7:c.G2101T:p.D701Y",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1E-3,"D",0.999,"D",0.964,"D",0,"D",1,"D",2.585,"M",0.59,"T",-6.8,"D",0.789,5.926,27.6,0.992,0.978,"D",-0.282,"T",0.345,"T",0.672,0,4.3,-0.032,0.007,0.988,0.992,12.925,"FamilyBased",".","ASD","WES",".","."]
[149,22542183,16,669572,669572,"T","C","DeNovo",".",".","16p13.3","exonic","RHOT2",89941,".","nonsynonymous SNV","RHOT2:NM_138769:exon5:c.T242C:p.V81A",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",0.998,"D",0,"D",1,"D",2.785,"M",-1.25,"T",-3.31,"D",0.765,4.28,24,0.996,0.934,"D",0.351,"D",0.627,"D",0.722,0,5.07,0.991,0.964,0.997,0.237,10.176,"FamilyBased",".","ASD","WES",".","."]
[150,22542183,1,91511850,91511850,"C","T","DeNovo",".",".","1p22.1","exonic","CDC7",8317,".","nonsynonymous SNV","CDC7:NM_001134419:exon6:c.C499T:p.R167C,CDC7:NM_001134420:exon6:c.C499T:p.R167C,CDC7:NM_003503:exon6:c.C499T:p.R167C",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1E-3,"D",1,"D",0.995,"D",0,"D",1,"D",0.785,"N",-0.14,"T",-6.25,"D",0.853,8.055,35,0.999,0.972,"D",-0.593,"T",0.269,"T",0.732,0,5.88,0.871,0.892,0.998,1,20.231,"FamilyBased",".","ASD","WES",".","."]
[151,22542183,2,240577644,240577644,"G","A","DeNovo",".",".","2q37.3","exonic","RNPEPL1",57140,".","nonsynonymous SNV","RNPEPL1:NM_018226:exon11:c.G1930A:p.G644S",".",".","rs758390282",{"v":1.73E-5,"d":"1.73E-05"},0,0,0,0,{"v":3.11e-05,"d":"3.11E-05"},0,0,".",".",".",".",".",".",0.106,"T",1,"D",1,"D",0,"U",1,"D",2.25,"M",0.99,"T",-3.45,"D",0.517,5.562,26.4,0.999,0.973,"D",-0.657,"T",0.246,"T",0.706,0,4.3,0.913,0.9,0.991,0.792,14.242,"FamilyBased",".","ASD","WES",".","."]
[153,22542183,11,61300213,61300213,"C","T","DeNovo",".",".","11q12.2","exonic","DDB1",1642,".","nonsynonymous SNV","DDB1:NM_001923:exon27:c.G3346A:p.D1116N",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.194,"T",0.033,"B",0.003,"B",0,"D",1,"D",0.975,"L",-1.31,"T",-1.54,"N",0.126,4.05,23.7,0.998,0.987,"D",-0.602,"T",0.342,"T",0.707,0,5.54,0.871,0.935,0.999,0.994,17.715,"FamilyBased",".","ASD","WES",".","."]
[154,22542183,2,36476984,36476984,"G","A","DeNovo",".",".","2p22.2","exonic","CRIM1",51232,".","nonsynonymous SNV","CRIM1:NM_016441:exon6:c.G1087A:p.V363I",".",".","rs144913926",0.0002,{"v":9.61e-05,"d":"9.61E-05"},0.0009,0,0.0002,0.0002,0.0011,0,0.000399361,".",".",".",".",".",0.332,"T",0.961,"D",0.621,"P",0,"D",1,"D",0.755,"N",-0.63,"T",-0.24,"N",0.214,4.987,25.1,0.999,0.928,"D",-0.686,"T",0.291,"T",0.707,0,5.93,0.917,1.048,0.993,0.972,19.342,"FamilyBased",".","ASD","WES",".","."]
[155,22542183,17,1675319,1675319,"C","T","DeNovo",".",".","17p13.3","exonic","PRPF8",10594,".","nonsynonymous SNV","PRPF8:NM_006445:exon20:c.G2893A:p.V965M","Retinitis pigmentosa 13, Autosomal dominant",".","rs763978779",{"v":1.65e-05,"d":"1.65E-05"},0,0,0,0,{"v":3e-05,"d":"3.00E-05"},0,0,".",".",".",".",".",".",2E-3,"D",0.973,"D",0.833,"P",0,"D",1,"D",3.26,"M",1.77,"T",-2.11,"N",0.713,6.917,33,0.999,0.985,"D",0.584,"D",0.721,"D",0.707,0,5.88,0.871,0.935,1,0.98,20.237,"FamilyBased",".","ASD","WES",".","."]
[156,22542183,11,126473418,126473418,"C","T","DeNovo",".",".","11q24.2","exonic","KIRREL3",84623,".","nonsynonymous SNV","KIRREL3:NM_001161707:exon5:c.G482A:p.R161H,KIRREL3:NM_001301097:exon5:c.G482A:p.R161H,KIRREL3:NM_032531:exon5:c.G482A:p.R161H","Mental retardation, autosomal dominant 4","ID=COSM203259;OCCURENCE=1(large_intestine)","rs779979146",{"v":4.39e-05,"d":"4.39E-05"},0,0.0002,0.0002,0,0,0,{"v":9.2E-5,"d":"9.20E-05"},".",".",".",".",".",".",0.143,"T",1,"D",0.997,"D",0,"D",0.903,"D",2.685,"M",-2.13,"D",-1.71,"N",0.587,6.381,29.5,0.999,0.981,"D",0.694,"D",0.797,"D",0.581,0,4.86,0.868,0.837,0.996,0.955,17.052,"FamilyBased",".","ASD","WES",".","."]
[157,22542183,1,210919903,210919903,"A","G","DeNovo",".",".","1q32.2","exonic","KCNH1",3756,".","nonsynonymous SNV","KCNH1:NM_002238:exon7:c.T1118C:p.I373T,KCNH1:NM_172362:exon7:c.T1199C:p.I400T","Temple-Baraitser syndrome, Autosomal dominant;Zimmermann-Laband syndrome 1, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.009,"D",0.966,"D",0.903,"P",0,"D",1,"D",3.14,"M",-5.07,"D",-4.32,"D",0.959,5.697,26.8,0.999,0.998,"D",1.088,"D",0.971,"D",0.554,0,5.8,1.062,1.194,1,0.996,15.327,"FamilyBased",".","ASD","WES",".","."]
[159,22542183,10,24607882,24607882,"A","G","DeNovo",".",".","10p12.1","exonic","ARHGAP21",57584,".","nonsynonymous SNV","ARHGAP21:NM_020824:exon10:c.T2444C:p.I815T",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.13,"T",0.028,"B",0.023,"B",0,"D",0.953,"D",1.01,"L",0.43,"T",-1.6,"N",0.145,2.771,21.2,0.981,0.985,"D",-0.87,"T",0.118,"T",0.672,0,5.86,1.062,1.199,0.999,0.995,11.589,"FamilyBased",".","ASD","WES",".","."]
[160,22542183,3,169861767,169861767,"T","A","DeNovo",".",".","3q26.2","exonic","LRRC31",79782,".","nonsynonymous SNV","LRRC31:NM_001277127:exon2:c.A222T:p.K74N,LRRC31:NM_001277128:exon2:c.A222T:p.K74N,LRRC31:NM_024727:exon2:c.A222T:p.K74N",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.453,"T",0.181,"B",0.063,"B",0.328,"N",1,"N",1.995,"M",2.69,"T",-1.05,"N",0.061,0.492,7.373,0.82,0.122,"N",-1.002,"T",0.108,"T",0.516,0,0.941,-1.175,-0.352,1E-3,0,5.827,"FamilyBased",".","ASD","WES",".","."]
[161,22542183,11,9749164,9749164,"A","T","DeNovo",".",".","11p15.4","exonic","SWAP70",23075,".","nonsynonymous SNV","SWAP70:NM_001297714:exon10:c.A1458T:p.L486F,SWAP70:NM_015055:exon11:c.A1632T:p.L544F",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",0.995,"D",0.904,"P",1E-3,"D",0.658,"N",1.04,"L",2.78,"T",-2.37,"N",0.762,4.177,23.8,0.995,0.329,"N",-1.016,"T",0.026,"T",0.732,0,-7.77,0.02,-0.125,0.969,0.974,3.483,"FamilyBased",".","ASD","WES",".","."]
[162,22542183,8,11845769,11845769,"C","T","DeNovo",".",".","8p23.1","exonic","CTSB",1508,".","nonsynonymous SNV","CTSB:NM_001317237:exon9:c.G442A:p.G148R,CTSB:NM_001908:exon9:c.G814A:p.G272R,CTSB:NM_147781:exon10:c.G814A:p.G272R,CTSB:NM_147782:exon10:c.G814A:p.G272R,CTSB:NM_147783:exon10:c.G814A:p.G272R,CTSB:NM_147780:exon11:c.G814A:p.G272R",".",".","rs756929729",{"v":4.14e-05,"d":"4.14E-05"},0,0,0,0,{"v":7.53e-05,"d":"7.53E-05"},0,0,".",".",".",".",".",".",0,"D",1,"D",1,"D",0,"D",1,"D",3.73,"H",-2.15,"D",-7.45,"D",0.896,6.507,31,0.999,0.96,"D",0.957,"D",0.866,"D",0.672,0,5.43,0.871,0.935,0.9,0.053,18.397,"FamilyBased",".","ASD","WES",".","."]
[164,22542183,2,133303074,133303074,"G","T","DeNovo",".",".","2q21.2","exonic","NCKAP5",344148,".","nonsynonymous SNV","NCKAP5:NM_207363:exon4:c.C106A:p.L36M,NCKAP5:NM_207481:exon4:c.C106A:p.L36M",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.131,"T",1,"D",0.992,"D",".",".",1,"N",0.345,"N",2.6,"T",-0.43,"N",0.374,3.069,22.4,0.974,0.484,"N",-0.977,"T",0.156,"T",0.554,0,0.381,0.897,0.998,0.976,0.083,5.244,"FamilyBased",".","ASD","WES",".","."]
[167,22542183,7,48427831,48427831,"G","C","DeNovo",".",".","7p12.3","exonic","ABCA13",154664,".","nonsynonymous SNV","ABCA13:NM_152701:exon42:c.G12525C:p.E4175D",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.264,"T",0.884,"P",0.433,"B",0.842,"N",1,"N",1.79,"L",-1.22,"T",-1.27,"N",0.105,0.29,5.596,0.89,0.104,"N",-0.773,"T",0.352,"T",0.487,0,1.73,0.809,0.954,0.017,0.023,6.408,"FamilyBased",".","ASD","WES",".","."]
[168,22542183,2,27054737,27054737,"G","A","DeNovo",".",".","2p23.3","exonic","AGBL5",60509,".","nonsynonymous SNV","AGBL5:NM_001035507:exon5:c.G659A:p.R220Q,AGBL5:NM_021831:exon5:c.G659A:p.R220Q","Retinitis pigmentosa 75, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.051,"T",1,"D",0.999,"D",0,"N",1,"D",2.045,"M",2.4,"T",-3.52,"D",0.736,6.12,28.3,1,0.967,"D",-1.101,"T",0.127,"T",0.707,0,6.08,0.917,1.048,0.999,0.999,20.259,"FamilyBased",".","ASD","WES",".","."]
[171,22542183,17,7577693,7577693,"C","T","DeNovo",".",".","17p13.1","exonic","EIF4A1",1973,".","nonsynonymous SNV","EIF4A1:NM_001204510:exon8:c.C893T:p.T298I,EIF4A1:NM_001416:exon8:c.C893T:p.T298I",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.011,"D",0.974,"D",0.884,"P",0,"D",1,"D",1.5,"L",3.21,"T",-5.18,"D",0.878,4.199,23.9,0.946,0.97,"D",-0.028,"T",0.474,"T",0.722,0,5.35,0.871,0.852,0.979,0.986,16.565,"FamilyBased",".","ASD","WES",".","."]
[172,22542183,1,222747058,222747058,"G","A","DeNovo",".",".","1q41","exonic","FAM177B",400823,".","nonsynonymous SNV","FAM177B:NM_001324080:exon3:c.G218A:p.R73Q,FAM177B:NM_207468:exon4:c.G218A:p.R73Q",".",".","rs375403559",{"v":2.47e-05,"d":"2.47E-05"},{"v":9.62e-05,"d":"9.62E-05"},0,0,0,{"v":3e-05,"d":"3.00E-05"},0,0,".",".",".",".",".",".",0.227,"T",0.168,"B",0.022,"B",0.415,"N",1,"N",1.27,"L",1.34,"T",-2.19,"N",0.298,2.07,16.66,0.993,0.023,"N",-1.035,"T",0.089,"T",0.554,0,1.73,-0.23,0.1,0.003,0.098,7.222,"FamilyBased",".","ASD","WES",".","."]
[174,22542183,12,6981145,6981145,"C","T","DeNovo",".",".","12p13.31","exonic","LPCAT3",10162,".","nonsynonymous SNV","LPCAT3:NM_005768:exon6:c.G536A:p.R179H",".",".","rs782324010",{"v":2.49e-05,"d":"2.49E-05"},0,0,0,0,{"v":4.52e-05,"d":"4.52E-05"},0,0,".",".",".",".",".",".",0.114,"T",0.956,"P",0.376,"B",0.037,"N",1,"N",1.965,"M",-0.79,"T",-1.95,"N",0.145,3.754,23.3,0.998,0.735,"D",-0.773,"T",0.354,"T",0.707,0,3.87,-0.782,0.852,0.957,1,6.652,"FamilyBased",".","ASD","WES",".","."]
[176,22542183,5,123614390,123614390,"C","A","DeNovo",".",".","5q23.2","exonic","CSNK1G3",1456,".","nonsynonymous SNV","CSNK1G3:NM_001270574:exon10:c.C930A:p.H310Q,CSNK1G3:NM_001270572:exon12:c.C1269A:p.H423Q,CSNK1G3:NM_001270573:exon12:c.C1041A:p.H347Q,CSNK1G3:NM_004384:exon12:c.C1338A:p.H446Q,CSNK1G3:NM_001031812:exon13:c.C1266A:p.H422Q,CSNK1G3:NM_001044723:exon13:c.C1362A:p.H454Q",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.029,"D",0.023,"B",0.031,"B",0,"D",0.999,"D",1.355,"L",1.18,"T",-1.81,"N",0.467,4.175,23.8,0.98,0.956,"D",-0.792,"T",0.214,"T",0.745,0,4.08,0.033,0.935,0.973,1,13.605,"FamilyBased",".","ASD","WES",".","."]
[177,22542183,16,70556215,70556215,"A","C","DeNovo",".",".","16q22.1","exonic","SF3B3",23450,".","nonsynonymous SNV","SF3B3:NM_012426:exon14:c.A1747C:p.M583L",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.358,"T",0.004,"B",0.029,"B",0,"D",1,"D",1.275,"L",1.18,"T",-1.81,"N",0.85,2.48,19.34,0.951,0.996,"D",-1.064,"T",0.074,"T",0.672,0,5.45,1.062,1.199,1,1,15.522,"FamilyBased",".","ASD","WES",".","."]
[178,22542183,10,31817840,31817840,"T","C","DeNovo",".",".","10p11.22","exonic","ARHGAP12",94134,".","nonsynonymous SNV","ARHGAP12:NM_001270699:exon9:c.A1523G:p.D508G,ARHGAP12:NM_001270698:exon10:c.A1448G:p.D483G,ARHGAP12:NM_001270696:exon11:c.A1589G:p.D530G,ARHGAP12:NM_001270695:exon12:c.A1664G:p.D555G,ARHGAP12:NM_001270697:exon12:c.A1538G:p.D513G,ARHGAP12:NM_018287:exon13:c.A1679G:p.D560G",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.007,"D",1,"D",1,"D",0,"D",1,"D",2.69,"M",-1.01,"T",-4.86,"D",0.845,4.332,24,0.999,0.987,"D",0.446,"D",0.651,"D",0.706,0,5.31,0.991,1.061,0.996,0.982,15.549,"FamilyBased",".","ASD","WES",".","."]
[179,22542183,11,64765438,64765438,"T","C","DeNovo",".",".","11q13.1","exonic","SF1",7536,".","nonsynonymous SNV","SF1:NM_001346410:exon12:c.A1322G:p.Q441R,SF1:NM_001346364:exon13:c.A1658G:p.Q553R,SF1:NM_201997:exon13:c.A1667G:p.Q556R,SF1:NM_201995:exon14:c.A1868G:p.Q623R",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",0.183,"B",0.026,"B",".",".",1,"D",".",".",0.88,"T",-0.34,"N",0.373,0.941,10.32,0.974,0.84,"D",-0.922,"T",0.13,"T",0.778,0,5.36,0.991,1.061,1,1,11.744,"FamilyBased",".","ASD","WES",".","."]
[182,22542183,7,101036479,101036479,"G","A","DeNovo",".",".","7q22.1","exonic","MUC17",140453,".","nonsynonymous SNV","MUC17:NM_001040105:exon3:c.G5063A:p.G1688E",".",".","rs73168394",0.0716,0.0982,0.0428,0.0268,0.0685,0.0764,0.0813,0.0809,".",".",".",".",".",".",0.515,"T",1E-3,"B",0,"B",".",".",1,"N",0.46,"N",3.35,"T",-0.04,"N",0.197,0.354,6.204,0.211,1E-3,"N",-0.922,"T",0.008,"T",0.497,0,-1.16,-2.124,-0.846,1E-3,0,".","FamilyBased",".","ASD","WES",".","."]
[183,22542183,18,8143721,8143721,"G","A","DeNovo",".",".","18p11.23","exonic","PTPRM",5797,".","nonsynonymous SNV","PTPRM:NM_001105244:exon14:c.G2242A:p.A748T,PTPRM:NM_002845:exon14:c.G2242A:p.A748T",".",".","rs745426552",{"v":8.24e-06,"d":"8.24E-06"},0,0,0,0.0002,0,0,0,".",".",".",".",".",".",0.003,"D",0.999,"D",0.985,"D",0,"D",1,"D",2.25,"M",1.07,"T",-2.38,"N",0.827,6.724,32,0.999,0.988,"D",-0.447,"T",0.329,"T",0.638,0,5.92,0.917,1.045,0.993,0.964,20.321,"FamilyBased",".","ASD","WES",".","."]
[185,22542183,2,15621074,15621074,"G","A","DeNovo",".",".","2p24.3","exonic","DDX1",1653,".","nonsynonymous SNV","DDX1:NM_004939:exon18:c.G1405A:p.V469I",".",".","rs767762546",{"v":2.49e-05,"d":"2.49E-05"},0,0,0,0,{"v":4.53e-05,"d":"4.53E-05"},0,0,".",".",".",".",".",".",0.227,"T",0.292,"B",0.081,"B",0,"D",1,"D",1.495,"L",0.98,"T",-0.49,"N",0.478,3.677,23.3,0.996,0.996,"D",-1.031,"T",0.115,"T",0.732,0,5.81,0.917,1.048,0.988,1,20.078,"FamilyBased",".","ASD","WES",".","."]
[186,22542183,3,123330935,123330935,"C","T","DeNovo",".",".","3q21.1","exonic","ADCY5",111,".","nonsynonymous SNV","ADCY5:NM_001199642:exon5:c.G550A:p.A184T,ADCY5:NM_183357:exon5:c.G1600A:p.A534T","Dyskinesia, familial, with facial myokymia, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",2E-3,"D",1,"D",0.997,"D",0,"D",1,"D",3.74,"H",-1.68,"D",-3.51,"D",0.903,7.737,35,0.999,0.986,"D",0.849,"D",0.823,"D",0.615,0,5.78,0.871,0.935,0.992,0.983,20.02,"FamilyBased",".","ASD","WES",".","."]
[187,22542183,15,90981848,90981848,"A","G","DeNovo",".",".","15q26.1","exonic","PRC1",9055,".","nonsynonymous SNV","PRC1:NM_001267580:exon3:c.T278C:p.I93T,PRC1:NM_003981:exon4:c.T401C:p.I134T,PRC1:NM_199413:exon4:c.T401C:p.I134T",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.407,"T",0.107,"B",0.072,"B",0,"D",1,"D",1.13,"L",1.59,"T",-1.82,"N",0.37,2.047,16.51,0.95,0.951,"D",-1.092,"T",0.064,"T",0.731,0,5.26,1.062,1.199,0.714,0.978,15.007,"FamilyBased",".","ASD","WES",".","."]
[188,22542183,3,48415712,48415712,"C","A","DeNovo",".",".","3p21.31","exonic","PLXNB1",5364,".","nonsynonymous SNV","PLXNB1:NM_001130082:exon19:c.G3665T:p.R1222L,PLXNB1:NM_002673:exon19:c.G3665T:p.R1222L",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.494,"T",0.015,"B",0.029,"B",0.136,"N",1,"N",0.345,"N",-0.95,"T",-1.48,"N",0.159,0.889,10.01,0.712,0.517,"D",-0.953,"T",0.18,"T",0.672,0,0.43,-0.392,-0.344,0.026,0.043,8.474,"FamilyBased",".","ASD","WES",".","."]
[189,22542183,6,145935370,145935370,"A","T","DeNovo",".",".","6q24.3","exonic","SHPRH",257218,".","nonsynonymous SNV","SHPRH:NM_001042683:exon12:c.T2641A:p.Y881N,SHPRH:NM_173082:exon12:c.T2641A:p.Y881N",".",".","rs748409829",{"v":8.32E-6,"d":"8.32E-06"},0,{"v":8.71e-05,"d":"8.71E-05"},0,0,0,0,0,".",".",".",".",".",".",0.111,"T",1,"D",0.999,"D",0,"D",1,"D",1.315,"L",-3.11,"D",-2.29,"N",0.902,4.392,24.1,0.988,0.995,"D",0.636,"D",0.771,"D",0.732,0,5.84,1.062,1.088,0.999,1,14.801,"FamilyBased",".","ASD","WES",".","."]
[190,22542183,11,57501029,57501029,"G","A","DeNovo",".",".","11q12.1","exonic","SLC43A1",8501,".","nonsynonymous SNV","SLC43A1:NM_001198810:exon4:c.C347T:p.A116V,SLC43A1:NM_003627:exon4:c.C347T:p.A116V",".",".","rs772347064",{"v":2.84e-05,"d":"2.84E-05"},0,0.0002,0,0,{"v":2.55E-5,"d":"2.55E-05"},0,0,".",".",".",".",".",".",1,"T",0.327,"B",0.053,"B",0.638,"N",1,"N",1.01,"L",0.53,"T",-0.63,"N",0.47,0.551,7.808,0.124,0.129,"N",-1.057,"T",0.094,"T",0.742,0,4.47,0.913,1.047,0.986,0.542,7.337,"FamilyBased",".","ASD","WES",".","."]
[192,22542183,19,7554626,7554626,"C","T","DeNovo",".",".","19p13.2","exonic","PNPLA6",10908,".","nonsynonymous SNV","PNPLA6:NM_001166114:exon21:c.C2537T:p.T846M,PNPLA6:NM_001166111:exon23:c.C2567T:p.T856M,PNPLA6:NM_001166112:exon23:c.C2342T:p.T781M,PNPLA6:NM_001166113:exon24:c.C2423T:p.T808M,PNPLA6:NM_006702:exon24:c.C2423T:p.T808M","Boucher-Neuhauser syndrome, Autosomal recessive;Oliver-McFarlane syndrome, Autosomal recessive;Spastic paraplegia 39, autosomal recessive, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.009,"D",0.998,"D",0.891,"P",0,"D",1,"D",1.995,"M",1.77,"T",-2.4,"N",0.664,5.923,27.5,0.998,0.996,"D",-0.94,"T",0.136,"T",0.707,0,4.98,0.871,0.852,0.754,0.135,15.838,"FamilyBased",".","ASD","WES",".","."]
[197,22542183,15,72774997,72774997,"T","C","DeNovo",".",".","15q24.1","exonic","ADPGK",83440,".","nonsynonymous SNV","ADPGK:NM_031284:exon2:c.A334G:p.R112G",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.214,"T",0,"B",2E-3,"B",0,"N",1,"N",1.59,"L",0.92,"T",-1.98,"N",0.475,1.073,11.07,0.97,0.186,"N",-1.025,"T",0.078,"T",0.707,0,0.694,0.029,-0.315,0.587,0.642,8.095,"FamilyBased",".","ASD","WES",".","."]
[198,22542183,9,104504627,104504627,"G","A","DeNovo",".",".","9q31.1","exonic","OR13F1",138805,".","nonsynonymous SNV","OR13F1:NM_001004485:exon1:c.G365A:p.R122Q",".",".","rs752978468",{"v":9.06e-05,"d":"9.06E-05"},0,{"v":8.65e-05,"d":"8.65E-05"},0,0.0005,1E-4,0,0,".",".",".",".",".",".",0.009,"D",0.718,"P",0.133,"B",0,"D",0.988,"D",3.545,"H",-1.06,"T",-3.77,"D",0.559,5.312,25.8,0.999,0.987,"D",0.242,"D",0.482,"T",0.487,0,4.3,0.866,1.048,0.998,0.993,15.081,"FamilyBased",".","ASD","WES",".","."]
[199,22542183,7,132185463,132185463,"C","A","DeNovo",".",".","7q32.3","exonic","PLXNA4",91584,".","nonsynonymous SNV","PLXNA4:NM_020911:exon16:c.G2994T:p.R998S",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.542,"T",0.661,"P",0.375,"B",0,"D",1,"D",0.75,"N",-0.72,"T",-0.54,"N",0.63,2.35,18.49,0.984,0.968,"D",-0.933,"T",0.199,"T",0.563,0,2.44,-0.032,0.065,0.879,0.962,11.905,"FamilyBased",".","ASD","WES",".","."]
[200,22542183,6,99401061,99401061,"G","A","DeNovo",".",".","6q16.2","exonic","PNISR",25957,".","nonsynonymous SNV","PNISR:NM_001322415:exon10:c.C1843T:p.R615C,PNISR:NM_001322408:exon11:c.C1897T:p.R633C,PNISR:NM_001322413:exon11:c.C1897T:p.R633C,PNISR:NM_001322414:exon11:c.C1843T:p.R615C,PNISR:NM_015491:exon11:c.C1897T:p.R633C,PNISR:NM_001322405:exon12:c.C1897T:p.R633C,PNISR:NM_001322410:exon12:c.C1897T:p.R633C,PNISR:NM_001322412:exon12:c.C1897T:p.R633C,PNISR:NM_032870:exon12:c.C1897T:p.R633C,PNISR:NM_001322406:exon13:c.C1897T:p.R633C",".",".","rs780914048",{"v":8.24e-06,"d":"8.24E-06"},0,0,0,0,0,0,{"v":6.06e-05,"d":"6.06E-05"},".",".",".",".",".",".",0,"D",0.999,"D",0.916,"D",0,"D",1,"D",0.975,"L",".",".",-2.54,"D",0.504,6.448,29.8,0.999,0.99,"D",-0.667,"T",0.233,"T",0.719,0,5.65,0.917,0.988,0.999,1,20.076,"FamilyBased",".","ASD","WES",".","."]
[201,22542183,20,32961308,32961308,"C","T","DeNovo",".",".","20q11.21","exonic","EFCAB8",388795,".","nonsynonymous SNV","EFCAB8:NM_001143967:exon27:c.C3566T:p.T1189M",".",".","rs189947728",".",".",".",".",".",".",".",".",0.000399361,".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",-0.586,0.135,0.612,0.011,"N",".",".",".",".",0.054,0,-6.74,-1.05,-3.038,1E-3,0,8.731,"FamilyBased",".","ASD","WES",".","."]
[203,22542183,16,1911990,1911990,"C","T","DeNovo",".",".","16p13.3","exonic","HS3ST6",64711,".","nonsynonymous SNV","HS3ST6:NM_001009606:exon2:c.G629A:p.R210H",".",".","rs200438465",{"v":9.67e-06,"d":"9.67E-06"},0,{"v":9.01e-05,"d":"9.01E-05"},0,0,0,0,0,".",".",".",".",".",".",0.017,"D",0.086,"B",0.055,"B",0.235,"N",0.561,"N",2.48,"M",0.49,"T",-2.87,"D",0.13,3.658,23.2,0.996,0.627,"D",-0.692,"T",0.135,"T",0.517,0,4.84,0.871,0.83,1,0.999,7.14,"FamilyBased",".","ASD","WES",".","."]
[206,22542183,1,54702094,54702094,"G","A","DeNovo",".",".","1p32.3","exonic","MROH7",374977,".","nonsynonymous SNV","MROH7:NM_001291332:exon18:c.G1844A:p.R615Q,MROH7:NM_001039464:exon20:c.G3290A:p.R1097Q",".",".","rs565587126",{"v":9.32e-06,"d":"9.32E-06"},0,0,0,0,{"v":1.61e-05,"d":"1.61E-05"},0,0,".",".",".",".",".",".",0.088,"T",0.998,"D",0.786,"P",0.038,"N",0.999,"N",2.15,"M",1.52,"T",-2.55,"D",0.513,6.158,28.5,0.999,0.824,"D",-0.966,"T",0.139,"T",0.554,0,4.99,0.917,0.106,0.022,0.015,13.647,"FamilyBased",".","ASD","WES",".","."]
[207,22542183,1,148937809,148937809,"C","T","DeNovo",".",".","1q21.2","exonic","PDE4DIP",9659,".","nonsynonymous SNV","PDE4DIP:NM_001002812:exon5:c.G581T:p.R194L,PDE4DIP:NM_001198834:exon5:c.G581T:p.R194L,PDE4DIP:NM_014644:exon5:c.G581T:p.R194L,PDE4DIP:NM_001198832:exon8:c.G779T:p.R260L,PDE4DIP:NM_001350521:exon8:c.G992T:p.R331L,PDE4DIP:NM_001350522:exon8:c.G779T:p.R260L,PDE4DIP:NM_001350523:exon8:c.G779T:p.R260L",".","ID=COSM1294910,COSM1294911;OCCURENCE=1(urinary_tract)","rs144942272",{"v":8.24e-05,"d":"8.24E-05"},0.0002,0,0,0,1E-4,0,{"v":6.06e-05,"d":"6.06E-05"},".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WES",".","."]
[209,22542183,6,158117740,158117740,"A","T","DeNovo",".",".","6q25.3","exonic","SERAC1",84947,".","nonsynonymous SNV","SERAC1:NM_032861:exon13:c.T1390A:p.C464S","3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.004,"D",1,"D",1,"D",0,"D",1,"D",1.515,"L",-1.91,"D",-7.46,"D",0.927,5.866,27.3,0.995,0.997,"D",0.321,"D",0.618,"D",0.706,0,5.7,1.062,1.199,0.992,0.989,15.975,"FamilyBased",".","ASD","WES",".","."]
[211,22542183,3,180661871,180661871,"C","T","DeNovo",".",".","3q26.33","exonic","CCDC39",339829,".","nonsynonymous SNV","CCDC39:NM_181426:exon3:c.G347A:p.S116N","Ciliary dyskinesia, primary, 14",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"T",0,"B",2E-3,"B",0.412,"N",1,"N",-0.75,"N",".",".",2.87,"N",0.013,-1.916,1E-3,0.213,0.007,"N",-0.991,"T",0.022,"T",0.487,0,-10.4,-0.734,-0.447,1E-3,0.009,10.668,"FamilyBased",".","ASD","WES",".","."]
[212,22542183,"X",14530073,14530073,"G","C","DeNovo",".",".","Xp22.2","exonic","GLRA2",2742,".","nonsynonymous SNV","GLRA2:NM_001118886:exon1:c.G16C:p.V6L,GLRA2:NM_002063:exon1:c.G16C:p.V6L,GLRA2:NM_001118885:exon2:c.G16C:p.V6L",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.019,"D",0.756,"P",0.621,"P",1E-3,"N",1,"D",0,"N",-1.25,"T",-0.05,"N",0.669,1.306,12.3,0.994,0.913,"D",-0.589,"T",0.306,"T",".",".",5.47,0.917,0.092,1,1,17.483,"FamilyBased",".","ASD","WES",".","."]
[214,22542183,22,29748484,29748484,"G","A","DeNovo",".",".","22q12.2","exonic","ZMAT5",55954,".","nonsynonymous SNV","ZMAT5:NM_001003692:exon2:c.C61T:p.R21C,ZMAT5:NM_001318129:exon2:c.C61T:p.R21C,ZMAT5:NM_019103:exon3:c.C61T:p.R21C",".",".","rs778718599",{"v":8.24e-06,"d":"8.24E-06"},0,0,0,0,{"v":1.5E-5,"d":"1.50E-05"},0,0,".",".",".",".",".",".",0,"D",1,"D",1,"D",0,"D",1,"D",3.23,"M",".",".",-7.65,"D",0.988,7.327,34,0.999,0.849,"D",0.114,"D",0.495,"T",0.732,0,5.36,0.917,1.029,0.998,0.998,11.819,"FamilyBased",".","ASD","WES",".","."]
[219,22542183,6,13622432,13622432,"C","T","DeNovo",".",".","6p23","exonic","RANBP9",10048,".","nonsynonymous SNV","RANBP9:NM_005493:exon14:c.G2120A:p.C707Y",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.004,"D",0.008,"B",0.015,"B",0,"D",1,"D",2.425,"M",-1.38,"T",-4.62,"D",0.718,5.609,26.5,0.997,0.977,"D",-0.315,"T",0.372,"T",0.672,0,5.31,0.871,0.935,1,1,15.87,"FamilyBased",".","ASD","WES",".","."]
[220,22542183,19,15680258,15680258,"A","C","DeNovo",".",".","19p13.12","exonic","CYP4F12",66002,".","nonsynonymous SNV","CYP4F12:NM_023944:exon4:c.A358C:p.K120Q",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1E-3,"D",1,"D",1,"D",0.045,"U",0.991,"N",2.565,"M",-1.45,"T",-3.46,"D",0.325,3.08,22.5,0.976,0.882,"D",-0.301,"T",0.612,"D",0.487,0,2.36,0.656,0.833,0.065,0.024,6.644,"FamilyBased",".","ASD","WES",".","."]
[225,22542183,19,10021732,10021732,"C","T","DeNovo",".",".","19p13.2","exonic","RDH8",50700,".","nonsynonymous SNV","RDH8:NM_015725:exon6:c.C979T:p.R327W",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.999,"D",0.943,"D",0.378,"N",1,"N",2.015,"M",-1.76,"D",".",".",0.358,5.652,26.7,0.998,0.198,"N",-0.19,"T",0.67,"D",0.554,0,3.4,-0.061,0.79,1E-3,1E-3,8.169,"FamilyBased",".","ASD","WES",".","."]
[226,22542183,3,4658254,4658254,"G","A","DeNovo",".",".","3p26.1","exonic","ITPR1",3708,".","nonsynonymous SNV","ITPR1:NM_001168272:exon12:c.G1082A:p.R361H,ITPR1:NM_002222:exon12:c.G1082A:p.R361H,ITPR1:NM_001099952:exon13:c.G1127A:p.R376H","Gillespie syndrome;Spinocerebellar ataxia 15, Autosomal dominant;Spinocerebellar ataxia 29, congenital nonprogressive, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.306,"T",0.916,"P",0.532,"P",0,"D",1,"D",1.1,"L",-2.16,"D",-1.75,"N",0.557,5.695,26.8,0.998,0.972,"D",0.151,"D",0.58,"D",0.707,0,5.39,0.917,1.048,0.903,0.99,19.171,"FamilyBased",".","ASD","WES",".","."]
[230,22542183,9,136832288,136832288,"G","A","DeNovo",".",".","9q34.3","exonic","RABL6",55684,".","nonsynonymous SNV","RABL6:NM_001173988:exon7:c.G626A:p.R209H,RABL6:NM_001173989:exon7:c.G623A:p.R208H,RABL6:NM_024718:exon7:c.G623A:p.R208H",".",".","rs373810895",{"v":8.29e-05,"d":"8.29E-05"},0,0,0.0003,0,1E-4,0,0,".",".",".",".",".",".",0.248,"T",0.417,"B",0.073,"B",0,"D",0.999,"D",1.015,"L",0.68,"T",-2.35,"N",0.354,3.227,22.8,0.994,0.871,"D",-0.818,"T",0.181,"T",0.719,0,4.5,0.917,0.902,0.999,0.995,16.187,"FamilyBased",".","ASD","WES",".","."]
[231,22542183,1,182883530,182883530,"G","A","DeNovo",".",".","1q25.3","exonic","DHX9",1660,".","nonsynonymous SNV","DHX9:NM_001357:exon26:c.G3155A:p.R1052Q",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.128,"T",0.989,"D",0.752,"P",0,"D",1,"D",1.79,"L",0.16,"T",-2.36,"N",0.78,6.774,32,0.999,0.974,"D",-0.617,"T",0.289,"T",0.707,0,5.39,0.917,0.949,0.999,0.997,18.775,"FamilyBased",".","ASD","WES",".","."]
[232,22542183,8,86411780,86411780,"G","T","DeNovo",".",".","8q21.3","exonic","WWP1",11059,".","nonsynonymous SNV","WWP1:NM_007013:exon9:c.G967T:p.A323S",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.69,"T",2E-3,"B",0.012,"B",0.516,"N",0.669,"N",0,"N",0.84,"T",-0.28,"N",0.242,1.244,11.98,0.947,0.376,"N",-0.977,"T",0.068,"T",0.707,0,4.26,0.917,1.048,0.992,0.997,6.982,"FamilyBased",".","ASD","WES",".","."]
[234,22542183,4,3228727,3228727,"C","T","DeNovo",".",".","4p16.3","exonic","HTT",3064,".","nonsynonymous SNV","HTT:NM_002111:exon58:c.C7961T:p.T2654M","Huntington disease, Autosomal dominant",".","rs375426084",{"v":2.57e-05,"d":"2.57E-05"},0.0002,0,0,0,{"v":1.52E-5,"d":"1.52E-05"},0,0,".",".",".",".",".",".",0.119,"T",0.027,"B",0.006,"B",0.011,"N",1,"N",0.69,"N",3.51,"T",-0.05,"N",0.502,3.101,22.5,0.974,0.195,"N",-0.972,"T",0.011,"T",0.707,0,2.67,0.008,-0.317,0.775,0.575,4.622,"FamilyBased",".","ASD","WES",".","."]
[235,22542183,9,135882970,135882970,"C","T","DeNovo",".",".","9q34.3","exonic","CAMSAP1",157922,".","nonsynonymous SNV","CAMSAP1:NM_015447:exon2:c.G269A:p.R90H",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",0.999,"D",0,"U",1,"D",2.61,"M",2.14,"T",-4.06,"D",0.811,7.193,34,1,0.937,"D",-0.791,"T",0.179,"T",0.737,0,5.6,0.871,0.069,0.998,0.972,19.978,"FamilyBased",".","ASD","WES",".","."]
[236,22542183,19,53455499,53455499,"G","A","DeNovo",".",".","19q13.42","exonic","ZNF761;ZNF765-ZNF761","388561;110116772",".","nonsynonymous SNV","ZNF761:NM_001289951:exon5:c.G992A:p.C331Y,ZNF761:NM_001289952:exon5:c.G992A:p.C331Y,ZNF761:NM_001008401:exon6:c.G992A:p.C331Y,ZNF765-ZNF761:NM_001350496:exon13:c.G992A:p.C331Y",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",0.997,"D",".",".",".",".",".",".",".",".",".",".",0.211,0.222,4.905,0.308,0.892,"D",".",".",".",".",0.257,0,0.986,-0.18,0.441,0.191,0.004,8.836,"FamilyBased",".","ASD","WES",".","."]
[237,22542183,7,103540259,103540259,"G","A","DeNovo",".",".","7q22.1","exonic","RELN",5649,".","nonsynonymous SNV","RELN:NM_005045:exon44:c.C6868T:p.R2290C,RELN:NM_173054:exon44:c.C6868T:p.R2290C","Lissencephaly 2 (Norman-Roberts type), Autosomal recessive;Lissencephaly 2 (Norman-Roberts type), Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.004,"D",1,"D",0.999,"D",0,"D",1,"D",2.465,"M",1.97,"T",-3.67,"D",0.905,7.179,34,0.999,0.987,"D",-0.632,"T",0.232,"T",0.554,0,5.44,0.917,0.953,0.995,0.999,19.626,"FamilyBased",".","ASD","WES",".","."]
[238,22542183,11,1252469,1252469,"C","T","DeNovo",".",".","11p15.5","exonic","MUC5B",727897,".","nonsynonymous SNV","MUC5B:NM_002458:exon32:c.C14990T:p.P4997L",".",".","rs544802823",{"v":7.14e-05,"d":"7.14E-05"},1E-4,0.0005,0,0,{"v":1.59E-5,"d":"1.59E-05"},0,0,1.99681E-4,".",".",".",".",".",0.194,"T",0.029,"B",0.007,"B",".",".",1,"N",0.205,"N",2.08,"T",-2.28,"N",0.091,0.518,7.567,0.692,0.099,"N",-1.009,"T",0.028,"T",0.487,0,2.7,-0.241,-0.382,0,0,6.208,"FamilyBased",".","ASD","WES",".","."]
[239,22542183,2,197408408,197408408,"T","C","DeNovo",".",".","2q33.1","exonic","SF3B1",23451,".","nonsynonymous SNV","SF3B1:NM_012433:exon8:c.A1078G:p.I360V","Myelodysplastic syndrome, somatic",".","rs371845865",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"T",0,"B",0.003,"B",0,"D",1,"D",-0.11,"N",".",".",0.26,"N",0.341,-0.369,0.46,0.832,0.961,"D",-1.08,"T",0.067,"T",0.707,0,3.73,0.991,1.061,1,1,11.306,"FamilyBased",".","ASD","WES",".","."]
[240,22542183,20,33658734,33658734,"C","T","DeNovo",".",".","20q11.22","exonic","NECAB3",63941,".","nonsynonymous SNV","NECAB3:NM_031232:exon9:c.G980A:p.S327N,NECAB3:NM_031231:exon10:c.G878A:p.S293N",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.209,"T",0.771,"P",0.53,"P",0,"D",0.855,"D",1.355,"L",1.56,"T",-1.03,"N",0.066,4.236,23.9,0.991,0.58,"D",-1.032,"T",0.075,"T",0.706,0,2.88,0.871,0.038,0.995,0.986,7.97,"FamilyBased",".","ASD","WES",".","."]
[242,22542183,17,42970321,42970321,"T","C","DeNovo",".",".","17q21.31","exonic","PTGES3L;PTGES3L-AARSD1","100885848;100885850",".","nonsynonymous SNV","PTGES3L:NM_001142653:exon5:c.A430G:p.K144E,PTGES3L:NM_001142654:exon5:c.A415G:p.K139E,PTGES3L-AARSD1:NM_001136042:exon6:c.A529G:p.K177E,PTGES3L:NM_001261430:exon6:c.A529G:p.K177E,PTGES3L-AARSD1:NM_025267:exon6:c.A346G:p.K116E",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.449,"T",0.999,"D",0.996,"D",0,"D",".",".",1.095,"L",1.75,"T",-0.81,"N",0.379,5.731,26.9,0.999,0.942,"D",-0.663,"T",0.199,"T",0.615,0,5.15,0.991,0.961,0.997,1,14.11,"FamilyBased",".","ASD","WES",".","."]
[244,22542183,5,103151276,103151276,"G","C","DeNovo",".",".","5q21.1","exonic","PPIP5K2",23262,".","nonsynonymous SNV","PPIP5K2:NM_001276277:exon9:c.G930C:p.L310F,PPIP5K2:NM_001281471:exon9:c.G930C:p.L310F,PPIP5K2:NM_001345871:exon9:c.G930C:p.L310F,PPIP5K2:NM_001345872:exon9:c.G930C:p.L310F,PPIP5K2:NM_001345873:exon9:c.G930C:p.L310F,PPIP5K2:NM_001345874:exon9:c.G930C:p.L310F,PPIP5K2:NM_001345875:exon9:c.G930C:p.L310F,PPIP5K2:NM_001345876:exon9:c.G930C:p.L310F,PPIP5K2:NM_001345877:exon9:c.G930C:p.L310F,PPIP5K2:NM_001345878:exon9:c.G930C:p.L310F,PPIP5K2:NM_015216:exon9:c.G930C:p.L310F",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.019,"D",0.982,"D",0.852,"P",0,"D",1,"D",1.895,"L",3.35,"T",-3.92,"D",0.936,4.026,23.6,0.999,0.81,"D",-1.063,"T",0.102,"T",0.732,0,1.44,0.917,-0.226,1,0.998,8.326,"FamilyBased",".","ASD","WES",".","."]
[247,22542183,"X",141697521,141697521,"G","C","DeNovo",".",".","Xq27.2","exonic","SPANXD",64648,".","nonsynonymous SNV","SPANXD:NM_032417:exon2:c.C238G:p.L80V",".",".","rs150598024",0.0162,0.062,0.0087,0,0.0207,0.0136,0.008,0.0057,".",".",".",".",".",".",1,"T",0.589,"P",0.389,"B",".",".",1,"N",".",".",3.24,"T",0.69,"N",0.139,-1.224,0.006,0.457,0.003,"N",-1.015,"T",0.003,"T",".",".",".",".",0.086,".",0.067,".","FamilyBased",".","ASD","WES",".","."]
[250,22542183,11,56462791,56462791,"T","C","DeNovo",".",".","11q12.1","exonic","OR5M9",390162,".","nonsynonymous SNV","OR5M9:NM_001004743:exon1:c.A611G:p.N204S",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.07,"T",0.025,"B",0.122,"B",0,"D",1,"N",1.315,"L",8.78,"T",-3.14,"D",0.069,-0.135,1.487,0.968,0.092,"N",-1.021,"T",0,"T",0.487,0,1.8,0,0.96,0.02,0.998,4.129,"FamilyBased",".","ASD","WES",".","."]
[251,22542183,4,53458729,53458729,"G","C","DeNovo",".",".","4q12","exonic","FIP1L1",81608,".","nonsynonymous SNV","FIP1L1:NM_001134938:exon14:c.G1354C:p.E452Q,FIP1L1:NM_001134937:exon17:c.G1558C:p.E520Q,FIP1L1:NM_030917:exon17:c.G1576C:p.E526Q",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.087,"T",0.759,"P",0.277,"B",0.011,"N",1,"D",1.32,"L",0.06,"T",-0.93,"N",0.232,3.511,23.1,0.994,0.992,"D",0.53,"D",0.713,"D",0.732,0,4.93,0.917,0.902,1,0.611,18.692,"FamilyBased",".","ASD","WES",".","."]
[254,22542183,1,119511592,119511592,"A","G","DeNovo",".",".","1p12","exonic","HSD3B1",3283,".","nonsynonymous SNV","HSD3B1:NM_000862:exon3:c.A235G:p.I79V,HSD3B1:NM_001328615:exon3:c.A235G:p.I79V",".",".","rs6201",0.0482,0.33,0.0794,0.0412,0.0002,0.003,0.0363,0.0557,0.136581,".",".",".",".",".",1,"T",0,"B",1E-3,"B",0,"N",1,"P",-1.72,"N",-1.46,"T",0.7,"N",0.201,-2.148,1E-3,0.168,0.028,"N",-0.998,"T",0.045,"T",0.487,0,0.153,-0.016,-0.077,0.858,0.047,7.304,"FamilyBased",".","ASD","WES",".","."]
[256,22542183,12,71583676,71583676,"G","C","DeNovo",".",".","12q21.1","exonic","LGR5",8549,".","nonsynonymous SNV","LGR5:NM_001277226:exon17:c.G1594C:p.D532H,LGR5:NM_001277227:exon17:c.G1450C:p.D484H,LGR5:NM_003667:exon18:c.G1666C:p.D556H",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.014,"D",0.855,"P",0.69,"P",0,"D",1,"D",1.625,"L",-2.01,"D",-1.91,"N",0.314,3.469,23,0.994,0.995,"D",0.309,"D",0.647,"D",0.487,0,5.84,0.917,1.048,0.705,0.86,20.135,"FamilyBased",".","ASD","WES",".","."]
[259,22542183,1,203183675,203183675,"C","T","DeNovo",".",".","1q32.1","exonic","CHI3L1",1116,".","nonsynonymous SNV","CHI3L1:NM_001276:exon5:c.G431A:p.R144Q",".",".","rs745563186",{"v":9.89e-05,"d":"9.89E-05"},0,0,0,0.0002,1E-4,0,{"v":6.06e-05,"d":"6.06E-05"},".",".",".",".",".",".",0.29,"T",0.109,"B",0.016,"B",0,"N",1,"N",-1.25,"N",3.47,"T",0.15,"N",0.159,0.915,10.17,0.946,0.062,"N",-0.967,"T",0.005,"T",0.554,0,-5.19,-0.638,-0.98,0.031,0.03,0.132,"FamilyBased",".","ASD","WES",".","."]
[261,22542183,8,119568226,119568226,"A","G","DeNovo",".",".","8q24.12","exonic","ENPP2",5168,".","nonsynonymous SNV","ENPP2:NM_001040092:exon22:c.T2080C:p.Y694H,ENPP2:NM_001130863:exon23:c.T2155C:p.Y719H,ENPP2:NM_001330600:exon23:c.T2143C:p.Y715H,ENPP2:NM_006209:exon23:c.T2236C:p.Y746H",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.056,"T",1,"D",0.994,"D",0,"D",1,"D",2.31,"M",-0.18,"T",-3.09,"D",0.858,6.128,28.4,0.999,0.99,"D",-0.139,"T",0.43,"T",0.638,0,5.34,1.062,1.199,0.999,1,15.624,"FamilyBased",".","ASD","WES",".","."]
[262,22542183,9,100022133,100022133,"C","T","DeNovo",".",".","9q31.1","exonic","ERP44",23071,".","nonsynonymous SNV","ERP44:NM_015051:exon5:c.G380A:p.R127Q",".","ID=COSM1103226;OCCURENCE=1(endometrium)",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",0.993,"D",0,"D",1,"D",2.23,"M",0.92,"T",-3.97,"D",0.952,7.712,35,1,0.981,"D",-0.558,"T",0.281,"T",0.732,0,5.81,0.871,0.935,0.998,1,20.089,"FamilyBased",".","ASD","WES",".","."]
[263,22542183,3,98516825,98516825,"T","C","DeNovo",".",".","3q11.2","exonic","CLDND1",56650,".","nonsynonymous SNV","CLDND1:NM_001040200:exon4:c.A311G:p.H104R,CLDND1:NM_001040181:exon5:c.A596G:p.H199R,CLDND1:NM_001040183:exon5:c.A596G:p.H199R,CLDND1:NM_001040199:exon5:c.A596G:p.H199R,CLDND1:NM_001040182:exon6:c.A665G:p.H222R,CLDND1:NM_019895:exon6:c.A596G:p.H199R",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.009,"D",0.991,"D",0.987,"D",1E-3,"N",1,"D",1.795,"L",1.39,"T",-3.24,"D",0.558,3.782,23.4,0.985,0.982,"D",-0.374,"T",0.397,"T",0.707,0,4.76,0.991,1.061,0.855,0.771,10.763,"FamilyBased",".","ASD","WES",".","."]
[264,22542183,12,12126797,12126797,"C","T","DeNovo",".",".","12p13.2","exonic","LRP6",4040,".","nonsynonymous SNV","LRP6:NM_002336:exon20:c.G4206A:p.M1402I","Tooth agenesis, selective, 7, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.335,"T",0.187,"B",0.106,"B",0,"D",1,"D",1.245,"L",0.99,"T",-0.69,"N",0.691,3.068,22.4,0.986,0.981,"D",-1.059,"T",0.108,"T",0.707,0,5.64,0.871,0.935,1,1,19.682,"FamilyBased",".","ASD","WES",".","."]
[266,22542183,1,109199954,109199954,"G","A","DeNovo",".",".","1p13.3","exonic","KIAA1324",57535,".","nonsynonymous SNV","KIAA1324:NM_001284353:exon12:c.G1588A:p.V530I,KIAA1324:NM_001267048:exon17:c.G2341A:p.V781I,KIAA1324:NM_001284352:exon18:c.G2296A:p.V766I,KIAA1324:NM_020775:exon19:c.G2602A:p.V868I",".",".","rs375869677",{"v":2.47e-05,"d":"2.47E-05"},{"v":9.61e-05,"d":"9.61E-05"},{"v":8.64e-05,"d":"8.64E-05"},0,0,{"v":1.5E-5,"d":"1.50E-05"},0,0,".",".",".",".",".",".",0.436,"T",0.134,"B",0.039,"B",2E-3,"N",0.673,"N",0.805,"L",2.74,"T",-0.8,"N",0.22,1.154,11.51,0.868,0.356,"N",-0.918,"T",0.007,"T",0.615,0,-2.52,0.069,0.126,0.99,0.923,7.889,"FamilyBased",".","ASD","WES",".","."]
[267,22542183,1,229502018,229502018,"G","A","DeNovo",".",".","1q42.13","exonic","NUP133",55746,".","nonsynonymous SNV","NUP133:NM_018230:exon3:c.C386T:p.A129V",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.159,"T",0.025,"B",0.038,"B",0.056,"N",0.939,"N",1.1,"L",0.84,"T",-1.79,"N",0.117,2.737,21,0.992,0.928,"D",-1.01,"T",0.095,"T",0.732,0,3.03,-0.044,1.048,0.937,1,11.334,"FamilyBased",".","ASD","WES",".","."]
[271,22542183,6,138321138,138321138,"C","T","DeNovo",".",".","6q24.1","exonic","ARFGEF3",57221,".","nonsynonymous SNV","ARFGEF3:NM_020340:exon29:c.C4679T:p.T1560I",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.221,"T",0.02,"B",0.024,"B",0.074,"N",0.964,"D",1.1,"L",1.25,"T",0.18,"N",0.358,2.801,21.4,0.993,0.9,"D",-1.078,"T",0.034,"T",0.732,0,5.67,0.871,0.935,0.99,0.996,17.946,"FamilyBased",".","ASD","WES",".","."]
[273,22542183,7,158761510,158761510,"G","A","DeNovo",".",".","7q36.3","exonic","ESYT2",57488,".","nonsynonymous SNV","ESYT2:NM_020728:exon11:c.C1363T:p.R455C",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.003,"D",1,"D",0.967,"D",0,"D",1,"D",1.75,"L",2.93,"T",-5.07,"D",0.826,7.812,35,0.999,0.92,"D",-1.183,"T",0.066,"T",0.732,0,5.3,0.913,1.047,1,1,12.976,"FamilyBased",".","ASD","WES",".","."]
[278,22542183,15,78025392,78025392,"C","G","DeNovo",".",".","15q25.1","exonic","TBC1D2B",23102,".","nonsynonymous SNV","TBC1D2B:NM_015079:exon5:c.G953C:p.G318A,TBC1D2B:NM_144572:exon5:c.G953C:p.G318A",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.79,"T",0.034,"B",0.02,"B",0.251,"N",1,"N",1.39,"L",3.19,"T",-0.28,"N",0.192,-0.389,0.411,0.214,0.197,"N",-1.012,"T",0.094,"T",0.707,0,3.68,0.871,0.935,0.536,0.194,4.399,"FamilyBased",".","ASD","WES",".","."]
[280,22542183,19,2121196,2121196,"T","C","DeNovo",".",".","19p13.3","exonic","AP3D1",8943,".","nonsynonymous SNV","AP3D1:NM_001261826:exon13:c.A1217G:p.Q406R,AP3D1:NM_003938:exon13:c.A1217G:p.Q406R",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.044,"D",0.996,"D",0.986,"D",0,"D",1,"D",1.665,"L",1.84,"T",-3.47,"D",0.555,3.686,23.3,0.996,0.984,"D",-1.017,"T",0.128,"T",0.707,0,4.73,0.991,0.964,0.999,1,13.377,"FamilyBased",".","ASD","WES",".","."]
[281,22542183,2,109501630,109501630,"C","T","DeNovo",".",".","2q13","exonic","SH3RF3",344558,".","nonsynonymous SNV","SH3RF3:NM_001099289:exon10:c.C2608T:p.R870C",".",".","rs369772984",1E-4,0,0.0003,0,0,0.0002,0,0,".",".",".",".",".",".",0,"D",1,"D",0.985,"D",0.003,"U",1,"D",".",".",0.73,"T",-4.78,"D",0.638,7.699,35,0.999,0.845,"D",-0.677,"T",0.251,"T",0.563,0,4.06,-0.058,0.852,0.961,0.9,10.7,"FamilyBased",".","ASD","WES",".","."]
[282,22542183,5,138160986,138160986,"G","T","DeNovo",".",".","5q31.2","exonic","BRD8",10902,".","nonsynonymous SNV","BRD8:NM_001300962:exon17:c.C2209A:p.L737M,BRD8:NM_001164326:exon18:c.C2341A:p.L781M,BRD8:NM_001300961:exon18:c.C2284A:p.L762M,BRD8:NM_139199:exon18:c.C2332A:p.L778M,BRD8:NM_001300966:exon19:c.C2014A:p.L672M,BRD8:NM_006696:exon19:c.C2551A:p.L851M",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1E-3,"D",1,"D",0.999,"D",0,"D",1,"D",3.67,"H",1.47,"T",-1.66,"N",0.847,5.803,27.1,0.996,0.989,"D",-0.294,"T",0.276,"T",0.707,0,4.46,0.917,1.048,1,1,13.21,"FamilyBased",".","ASD","WES",".","."]
[284,22542183,14,64134123,64134123,"C","G","DeNovo",".",".","14q23.2","exonic","SYNE2",23224,".","nonsynonymous SNV","SYNE2:NM_015180:exon78:c.C14569G:p.L4857V,SYNE2:NM_182914:exon78:c.C14569G:p.L4857V","Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"T",0.996,"D",0.972,"D",0,"D",1,"D",1.37,"L",4.21,"T",-0.3,"N",0.222,5.769,27,0.964,0.848,"D",-0.754,"T",0.284,"T",0.707,0,5.95,0.871,0.935,0.851,0.424,15.447,"FamilyBased",".","ASD","WES",".","."]
[285,22542183,12,119734221,119734221,"T","C","DeNovo",".",".","12q24.23","exonic","CIT",11113,".","nonsynonymous SNV","CIT:NM_007174:exon25:c.A3167G:p.Q1056R,CIT:NM_001206999:exon26:c.A3293G:p.Q1098R","Microcephaly 17, primary, autosomal recessive, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.227,"T",0.993,"D",0.968,"D",0,"D",1,"D",0.805,"L",1.59,"T",-1.36,"N",0.727,2.078,16.71,0.987,0.961,"D",-0.874,"T",0.183,"T",0.707,0,5.35,0.991,1.011,0.999,1,15.337,"FamilyBased",".","ASD","WES",".","."]
[288,22542183,7,157256950,157256950,"T","G","DeNovo",".",".","7q36.3","exonic","UBE3C",9690,".","nonsynonymous SNV","UBE3C:NM_014671:exon22:c.T2987G:p.F996C",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",1,"D",0,"D",1,"D",4.4,"H",-0.26,"T",-7.72,"D",0.969,5.603,26.5,0.992,0.99,"D",0.699,"D",0.671,"D",0.719,0,5.67,0.991,1.061,0.998,0.989,15.921,"FamilyBased",".","ASD","WES",".","."]
[291,22542183,14,100292534,100292534,"C","T","DeNovo",".",".","14q32.2","exonic","SLC25A29",123096,".","nonsynonymous SNV","SLC25A29:NM_152333:exon3:c.G463A:p.G155R,SLC25A29:NM_001039355:exon4:c.G661A:p.G221R,SLC25A29:NM_001291813:exon5:c.G463A:p.G155R,SLC25A29:NM_001291814:exon5:c.G463A:p.G155R",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.027,"D",0.974,"D",0.817,"P",0,"D",1,"D",1.775,"L",-1.21,"T",-5.49,"D",0.875,5.122,25.4,0.994,0.995,"D",0.064,"D",0.515,"D",0.672,0,4.55,0.871,0.07,0.658,0.435,14.146,"FamilyBased",".","ASD","WES",".","."]
[293,22542183,12,55685261,55685261,"G","A","DeNovo",".",".","12q13.2","exonic","ITGA7",3679,".","nonsynonymous SNV","ITGA7:NM_001144996:exon25:c.C3223T:p.P1075S,ITGA7:NM_001144997:exon25:c.C2932T:p.P978S,ITGA7:NM_002206:exon25:c.C3211T:p.P1071S","Muscular dystrophy, congenital, due to ITGA7 deficiency, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.352,"T",0.021,"B",0.033,"B",0.055,"N",1,"D",2.3,"M",1.87,"T",-1.56,"N",0.391,2.797,21.4,0.99,0.757,"D",-0.898,"T",0.104,"T",0.626,0,5.12,0.917,0.953,0.994,0.993,16.047,"FamilyBased",".","ASD","WES",".","."]
[294,22542183,5,150010454,150010454,"C","T","DeNovo",".",".","5q32","exonic","HMGXB3",22993,".","nonsynonymous SNV","HMGXB3:NM_014983:exon4:c.C656T:p.A219V",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.298,"T",0.779,"P",0.232,"B",0,"D",0.98,"D",0.46,"N",".",".",-0.85,"N",0.324,2.871,21.7,0.999,0.893,"D",-0.943,"T",0.097,"T",0.719,0,5.91,0.871,0.935,0.991,0.995,13.489,"FamilyBased",".","ASD","WES",".","."]
[296,22542183,17,37512525,37512525,"C","T","DeNovo",".",".","17q12","exonic","DUSP14",11072,".","nonsynonymous SNV","DUSP14:NM_007026:exon3:c.C253T:p.P85S",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.292,"B",0.086,"B",0,"D",1,"D",1.1,"L",".",".",".",".",0.364,1.039,10.88,0.801,0.988,"D",-0.966,"T",0.139,"T",0.719,0,5.18,0.871,0.935,0.999,0.963,16.744,"FamilyBased",".","ASD","WES",".","."]
[297,22542183,5,90627581,90627581,"A","T","DeNovo",".",".","5q14.3","exonic","ADGRV1",84059,".","nonsynonymous SNV","ADGRV1:NM_032119:exon7:c.A1043T:p.D348V","Usher syndrome, type 2C, Autosomal recessive, Digenic dominant;Usher syndrome, type 2C, GPR98/PDZD7 digenic, Autosomal recessive, Digenic dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.009,"D",1,"D",1,"D",0,"D",1,"D",2.24,"M",1.23,"T",-5.53,"D",0.899,5.886,27.4,0.994,0.994,"D",-0.608,"T",0.238,"T",0.554,0,5.85,1.062,1.14,0.989,1,16.236,"FamilyBased",".","ASD","WES",".","."]
[299,22542183,19,10115579,10115579,"C","T","DeNovo",".",".","19p13.2","exonic","EIF3G",8666,".","nonsynonymous SNV","EIF3G:NM_003755:exon10:c.G847A:p.A283T",".","ID=COSM990424;OCCURENCE=1(endometrium)",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",2E-3,"D",1,"D",1,"D",0,"D",1,"D",3.915,"H",0.36,"T",-3.76,"D",0.921,6.548,31,0.999,0.983,"D",0.288,"D",0.479,"T",0.672,0,4.16,0.871,0.852,0.956,0.878,15.345,"FamilyBased",".","ASD","WES",".","."]
[300,22542183,15,48474558,48474558,"C","T","DeNovo",".",".","15q21.1","exonic","FBN1",2200,".","nonsynonymous SNV","FBN1:NM_000138:exon33:c.G4057A:p.G1353R","Acromicric dysplasia, Autosomal dominant;Ectopia lentis, familial, Autosomal dominant;Geleophysic dysplasia 2, Autosomal dominant;MASS syndrome;Marfan lipodystrophy syndrome, Autosomal dominant;Marfan syndrome, Autosomal dominant;Stiff skin syndrome, Autosomal dominant;Weill-Marchesani syndrome 2, dominant, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1E-3,"D",0.998,"D",0.933,"D",0,"D",1,"D",4.4,"H",-3.1,"D",-7.24,"D",0.952,7.113,34,0.999,0.974,"D",1.094,"D",0.926,"D",0.707,0,4.87,0.871,0.935,0.959,0.856,17.794,"FamilyBased",".","ASD","WES",".","."]
[301,22542183,"X",70352640,70352640,"C","T","DeNovo",".",".","Xq13.1","exonic","KIF4A",24137,".","nonsynonymous SNV","KIF4A:NM_012310:exon14:c.C1472T:p.A491V",".",".","rs2297871",0.0088,1E-4,0.0003,0.0874,0.0057,0.0017,0.0147,6.6E-3,0.0225166,".",".",".",".",".",0.362,"T",0.029,"B",0.004,"B",0.123,"N",1,"P",0.55,"N",-0.34,"T",-0.06,"N",0.066,0.791,9.411,0.871,0.067,"N",-0.987,"T",0.04,"T",".",".",3.58,0.871,-0.962,0.094,0.844,7.234,"FamilyBased",".","ASD","WES",".","."]
[303,22542183,14,69122322,69122322,"G","T","DeNovo",".",".","14q24.1","exonic","DCAF5",8816,".","nonsynonymous SNV","DCAF5:NM_001284206:exon2:c.C253A:p.Q85K,DCAF5:NM_001284207:exon2:c.C7A:p.Q3K,DCAF5:NM_001284208:exon2:c.C253A:p.Q85K,DCAF5:NM_003861:exon2:c.C253A:p.Q85K",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.824,"T",0.01,"B",0.003,"B",0,"D",0.773,"N",-0.9,"N",0.47,"T",-0.54,"N",0.135,1.569,13.68,0.972,0.851,"D",-0.924,"T",0.092,"T",0.706,0,5.53,0.917,1.048,1,0.996,13.35,"FamilyBased",".","ASD","WES",".","."]
[304,22542183,9,21187297,21187297,"C","T","DeNovo",".",".","9p21.3","exonic","IFNA4",3441,".","nonsynonymous SNV","IFNA4:NM_021068:exon1:c.G235A:p.V79I",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.059,"T",0.003,"B",0.067,"B",0.111,"N",1,"N",1.92,"M",3.52,"T",-0.84,"N",0.216,0.865,9.859,0.98,0.017,"N",-1.042,"T",0.021,"T",0.487,0,2.04,0.033,0.719,0.004,0.091,7.464,"FamilyBased",".","ASD","WES",".","."]
[305,22542183,7,71665466,71665466,"T","C","DeNovo",".",".","7q11.22","exonic","GALNT17",64409,".","nonsynonymous SNV","GALNT17:NM_022479:exon7:c.T1136C:p.I379T",".",".","rs778345649",{"v":1.65e-05,"d":"1.65E-05"},0,0,0,0,{"v":3e-05,"d":"3.00E-05"},0,0,".",".",".",".",".",".",1E-3,"D",0.975,"D",0.77,"P",0,"D",1,"D",3.77,"H",-0.23,"T",-3.15,"D",0.946,4.221,23.9,0.999,0.979,"D",0.386,"D",0.553,"D",0.706,0,5.85,0.991,1.058,0.999,0.998,15.41,"FamilyBased",".","ASD","WES",".","."]
[308,22542183,6,41930710,41930710,"A","G","DeNovo",".",".","6p21.1","exonic","BYSL",705,".","nonsynonymous SNV","BYSL:NM_004053:exon4:c.A646G:p.I216V",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.397,"T",0.018,"B",0.074,"B",0,"D",1,"D",0.485,"N",0.98,"T",-0.58,"N",0.161,1.527,13.46,0.962,0.921,"D",-1.069,"T",0.041,"T",0.707,0,6.06,1.062,1.187,0.998,0.541,16.271,"FamilyBased",".","ASD","WES",".","."]
[309,22542183,1,47144727,47144727,"G","A","DeNovo",".",".","1p33","exonic","CYP4A22",284541,".","nonsynonymous SNV","CYP4A22:NM_001010969:exon8:c.G1075A:p.A359T",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.581,"T",0.08,"B",0.074,"B",0.46,"N",1,"N",-0.095,"N",-0.32,"T",-0.01,"N",0.029,-0.134,1.488,0.858,0.037,"N",-1.005,"T",0.108,"T",0.497,0,-0.623,-0.084,0.631,0.069,0.41,7.405,"FamilyBased",".","ASD","WES",".","."]
[310,22542183,"X",3655200,3655200,"T","A","DeNovo",".",".","Xp22.33","exonic","PRKX",5613,".","nonsynonymous SNV","PRKX:NM_005044:exon3:c.A548T:p.D183V",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.015,"D",0.51,"P",0.491,"P",1E-3,"N",1,"D",2.915,"M",2.87,"T",-5.92,"D",0.334,2.228,17.69,0.99,0.928,"D",-1.106,"T",0.063,"T",".",".",3.57,0.755,0.708,0.57,0.37,10.656,"FamilyBased",".","ASD","WES",".","."]
[315,22542183,10,95238625,95238625,"G","A","DeNovo",".",".","10q23.33","exonic","PDLIM1",9124,".","nonsynonymous SNV","PDLIM1:NM_020992:exon6:c.C746T:p.A249V",".",".","rs565368926",{"v":1.65e-05,"d":"1.65E-05"},0,0,0,0,{"v":1.5E-5,"d":"1.50E-05"},0,{"v":6.06e-05,"d":"6.06E-05"},1.99681E-4,".",".",".",".",".",0.008,"D",0.997,"D",0.647,"P",0,"D",1,"D",2.28,"M",1.99,"T",-2.16,"N",0.337,6.946,33,0.999,0.976,"D",-0.979,"T",0.103,"T",0.707,0,5.24,0.917,1.048,0.994,0.991,17.806,"FamilyBased",".","ASD","WES",".","."]
[316,22542183,11,113235070,113235070,"G","T","DeNovo",".",".","11q23.2","exonic","NCAM1",4684,".","nonsynonymous SNV","NCAM1:NM_000615:exon13:c.G1701T:p.K567N,NCAM1:NM_001076682:exon13:c.G1701T:p.K567N,NCAM1:NM_001242608:exon13:c.G1701T:p.K567N,NCAM1:NM_181351:exon14:c.G1731T:p.K577N,NCAM1:NM_001242607:exon15:c.G1809T:p.K603N",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.999,"D",0.971,"D",0,"U",1,"D",".",".",".",".",".",".",0.301,5.679,26.7,0.999,0.952,"D",-0.225,"T",0.375,"T",0.615,0,4.75,-0.029,0.12,0.974,0.837,13.037,"FamilyBased",".","ASD","WES",".","."]
[317,22542183,19,48838085,48838085,"C","T","DeNovo",".",".","19q13.33","exonic","PLEKHA4",57664,".","nonsynonymous SNV","PLEKHA4:NM_020904:exon19:c.G2009A:p.R670Q",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.005,"D",0.029,"B",2E-3,"B",0.062,"N",1,"D",".",".",1.77,"T",0.18,"N",0.449,4.442,24.2,0.998,0.901,"D",-1.097,"T",0.048,"T",0.767,0,3.86,0.594,0.913,0.932,0.997,11.597,"FamilyBased",".","ASD","WES",".","."]
[324,22542183,9,21187407,21187407,"G","C","DeNovo",".",".","9p21.3","exonic","IFNA4",3441,".","nonsynonymous SNV","IFNA4:NM_021068:exon1:c.C125G:p.A42G",".",".","rs752150173",1E-4,0,0,0.0013,0,{"v":3.05e-05,"d":"3.05E-05"},0,0,".",".",".",".",".",".",0.759,"T",0,"B",0.003,"B",0.489,"N",1,"N",0.255,"N",3.49,"T",0.38,"N",0.019,-0.309,0.635,0.71,0.003,"N",-0.903,"T",0.009,"T",0.487,0,-0.327,-1.701,-0.879,0,1E-3,7.481,"FamilyBased",".","ASD","WES",".","."]
[325,22542183,"X",83509126,83509126,"A","G","DeNovo",".",".","Xq21.1","exonic","POU3F4",5456,".","nonsynonymous SNV","POU3F4:NM_000307:exon1:c.A802G:p.S268G","Deafness, X-linked 2, X-linked recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.069,"T",2E-3,"B",0.026,"B",0,"D",1,"D",0.735,"N",-3.77,"D",-3.55,"D",0.179,1.782,14.88,0.989,0.958,"D",0.187,"D",0.706,"D",".",".",5.07,1.062,1.199,1,1,9.223,"FamilyBased",".","ASD","WES",".","."]
[326,22542183,"X",102656829,102656829,"G","T","DeNovo",".",".","Xq22.1","exonic","GPRASP1",9737,".","nonsynonymous SNV","GPRASP1:NM_001099411:exon3:c.G2916T:p.W972C,GPRASP1:NM_001099410:exon4:c.G2916T:p.W972C,GPRASP1:NM_014710:exon5:c.G2916T:p.W972C,GPRASP1:NM_001184727:exon6:c.G2916T:p.W972C",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.042,"D",0.964,"D",0.334,"B",".",".",1,"N",1.245,"L",3.08,"T",-1.64,"N",0.23,0.631,8.369,0.876,0.026,"N",-0.999,"T",0.018,"T",".",".",1.94,0.897,0.877,0.012,0.006,7.473,"FamilyBased",".","ASD","WES",".","."]
[327,22542183,15,63725414,63725414,"A","G","DeNovo",".",".","15q22.31","exonic","HERC1",8925,".","nonsynonymous SNV","HERC1:NM_003922:exon18:c.T3446C:p.I1149T","Macrocephaly, dysmorphic facies, and psychomotor retardation, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1E-3,"D",0.281,"B",0.04,"B",0,"D",1,"D",1.24,"L",1.44,"T",-2.36,"N",0.77,3.901,23.5,0.996,0.99,"D",-1.09,"T",0.067,"T",0.651,0,5.44,0.722,1.199,0.996,0.997,15.809,"FamilyBased",".","ASD","WES",".","."]
[331,22542183,6,132683280,132683280,"C","T","DeNovo",".",".","6q23.2","exonic","VNN1",8876,".","nonsynonymous SNV","VNN1:NM_004666:exon7:c.G1402A:p.G468R",".",".","rs141631091",{"v":3.3e-05,"d":"3.30E-05"},0,{"v":8.69e-05,"d":"8.69E-05"},0,0,{"v":4.5e-05,"d":"4.50E-05"},0,0,".",".",".",".",".",".",0.446,"T",0.012,"B",0.005,"B",0.171,"N",1,"N",2.14,"M",-2.34,"D",0.05,"N",0.072,1.922,15.72,0.866,0.034,"N",-0.779,"T",0.305,"T",0.516,0,0.004,0.871,-0.321,0.11,0.099,6.582,"FamilyBased",".","ASD","WES",".","."]
[334,22542183,3,44447416,44447416,"G","A","DeNovo",".",".","3p21.31","exonic","ZNF445",353274,".","nonsynonymous SNV","ZNF445:NM_181489:exon8:c.C2255T:p.P752L",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.169,"T",0.94,"P",0.421,"B",0.007,"N",0.95,"D",0,"N",3.28,"T",-2.67,"D",0.298,2.714,20.9,0.995,0.388,"N",-0.91,"T",0.011,"T",0.707,0,3.49,0.865,0.9,0.637,0.633,8.649,"FamilyBased",".","ASD","WES",".","."]
[335,22542183,8,39645438,39645438,"G","C","DeNovo",".",".","8p11.22","exonic","ADAM18",8749,".","nonsynonymous SNV","ADAM18:NM_001320313:exon10:c.G938C:p.C313S,ADAM18:NM_014237:exon11:c.G1010C:p.C337S",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",0.997,"D",0,"D",1,"D",3.02,"M",-0.66,"T",-9.53,"D",0.888,4.363,24.1,0.989,0.748,"D",0.279,"D",0.58,"D",0.487,0,5.18,0.897,0.996,0.188,0.01,14.065,"FamilyBased",".","ASD","WES",".","."]
[336,22542183,3,48421690,48421690,"C","G","DeNovo",".",".","3p21.31","exonic","PLXNB1",5364,".","nonsynonymous SNV","PLXNB1:NM_001130082:exon7:c.G1637C:p.R546P,PLXNB1:NM_002673:exon7:c.G1637C:p.R546P",".",".","rs754980263",{"v":8.3e-06,"d":"8.30E-06"},0,0,0,0,{"v":1.51e-05,"d":"1.51E-05"},0,0,".",".",".",".",".",".",0.012,"D",1,"D",0.994,"D",0,"D",1,"D",2.675,"M",3.89,"T",-4.93,"D",0.917,7.493,34,0.998,0.973,"D",-1.191,"T",0.043,"T",0.635,0,5.62,0.871,0.852,0.427,0.959,12.027,"FamilyBased",".","ASD","WES",".","."]
[338,22542183,19,7678197,7678197,"C","A","DeNovo",".",".","19p13.2","exonic","MCEMP1",199675,".","nonsynonymous SNV","MCEMP1:NM_174918:exon3:c.C278A:p.A93D",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.055,"T",0.981,"D",0.654,"P",0.28,"N",1,"N",0.345,"N",1.78,"T",-2.85,"D",0.412,2.443,19.1,0.972,0.034,"N",-1.058,"T",0.048,"T",0.556,0,-1.27,-0.286,0.024,0.054,1E-3,2.879,"FamilyBased",".","ASD","WES",".","."]
[339,22542183,11,5841377,5841377,"C","T","DeNovo",".",".","11p15.4","exonic","OR52E6",390078,".","nonsynonymous SNV","OR52E6:NM_001005167:exon1:c.G521A:p.R174H",".",".","rs200669717",0.0002,0.0002,0,0,0.0002,0.0003,0,0,".",".",".",".",".",".",1,"T",0,"B",1E-3,"B",0.482,"N",1,"N",-0.925,"N",8.72,"T",1.95,"N",0.065,-0.398,0.392,0.605,1E-3,"N",-1.099,"T",0,"T",0.487,0,0.771,0.021,-1.173,0.203,0.066,7.002,"FamilyBased",".","ASD","WES",".","."]
[340,22542183,1,201092041,201092041,"C","T","DeNovo",".",".","1q32.1","exonic","CACNA1S",779,".","nonsynonymous SNV","CACNA1S:NM_000069:exon4:c.G472A:p.G158S","Hypokalemic periodic paralysis, type 1, Autosomal dominant","ID=COSM209463;OCCURENCE=1(large_intestine)","rs373218444",{"v":8.24e-06,"d":"8.24E-06"},0,0,0,0,{"v":1.5E-5,"d":"1.50E-05"},0,0,".",".",".",".",".",".",0.06,"T",1,"D",0.998,"D",0,"D",1,"D",1.295,"L",-4.47,"D",-5.23,"D",0.585,6.374,29.5,0.999,0.994,"D",1.01,"D",0.91,"D",0.447,0,4.48,0.871,0.935,0.998,0.994,14.999,"FamilyBased",".","ASD","WES",".","."]
[344,22542183,1,55132585,55132585,"G","A","DeNovo",".",".","1p32.3","exonic","USP24",23358,".","nonsynonymous SNV","USP24:NM_015306:exon31:c.C3497T:p.A1166V",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.01,"D",0.989,"D",0.828,"P",0,"D",1,"D",1.735,"L",2.13,"T",-2.39,"N",0.812,5.209,25.5,0.999,0.992,"D",-1.127,"T",0.102,"T",0.707,0,5.24,0.917,0.998,0.988,0.969,19.186,"FamilyBased",".","ASD","WES",".","."]
[347,22542183,10,73504924,73504924,"G","A","DeNovo",".",".","10q22.2","exonic","USP54",159195,".","nonsynonymous SNV","USP54:NM_001320437:exon20:c.C4051T:p.R1351C,USP54:NM_001350995:exon20:c.C3946T:p.R1316C,USP54:NM_152586:exon20:c.C4237T:p.R1413C",".",".","rs758608416",{"v":9.06e-05,"d":"9.06E-05"},0,0,0,0,1E-4,0,{"v":6.06e-05,"d":"6.06E-05"},".",".",".",".",".",".",0.04,"D",0.02,"B",0.005,"B",".",".",1,"N",1.795,"L",0.41,"T",-2.46,"N",0.292,4.436,24.2,0.993,0.676,"D",-0.924,"T",0.139,"T",0.722,0,1.76,0.697,0.714,0.739,0.99,7.189,"FamilyBased",".","ASD","WES",".","."]
[349,22542183,20,46725844,46725844,"G","A","DeNovo",".",".","20q13.12","exonic","SLC2A10",81031,".","nonsynonymous SNV","SLC2A10:NM_030777:exon2:c.G808A:p.V270M","Arterial tortuosity syndrome, Autosomal recessive","ID=COSM303227;OCCURENCE=1(central_nervous_system)","rs749220947",1E-4,0,0,1E-4,0.0006,1E-4,0,{"v":6.06e-05,"d":"6.06E-05"},".",".",".",".",".",".",0.095,"T",0.763,"P",0.176,"B",0.055,"N",1,"N",0.165,"N",-1.45,"T",-0.77,"N",0.083,-0.168,1.278,0.938,0.226,"N",-0.854,"T",0.208,"T",0.706,0,1.23,-0.401,-0.24,0.882,0.078,12.025,"FamilyBased",".","ASD","WES",".","."]
[350,22542183,19,1223104,1223104,"C","T","DeNovo",".",".","19p13.3","exonic","STK11",6794,".","nonsynonymous SNV","STK11:NM_000455:exon8:c.C1040T:p.A347V","Melanoma, malignant, somatic (3);Pancreatic cancer, Autosomal dominant, Somatic mutation, Multifactorial;Peutz-Jeghers syndrome, Autosomal dominant;Testicular tumor, somatic;Melanoma, malignant, somatic (3);Pancreatic cancer, Autosomal dominant, Somatic mutation, Multifactorial;Peutz-Jeghers syndrome, Autosomal dominant;Testicular tumor, somatic",".",".",{"v":2.1e-05,"d":"2.10E-05"},0,1E-4,0,0,{"v":1.85e-05,"d":"1.85E-05"},0,0,".",".",".",".",".",".",0.526,"T",0.049,"B",0.014,"B",0.042,"N",0.957,"N",0,"N",-0.36,"T",-1.25,"N",0.062,0.828,9.633,0.816,0.175,"N",-1.05,"T",0.099,"T",0.672,0,-2.02,0.067,0.031,0.021,2E-3,6.986,"FamilyBased",".","ASD","WES",".","."]
[351,22542183,8,91289216,91289216,"A","G","DeNovo",".",".","8q21.3","exonic","SLC26A7",115111,".","nonsynonymous SNV","SLC26A7:NM_052832:exon3:c.A274G:p.I92V,SLC26A7:NM_134266:exon3:c.A274G:p.I92V,SLC26A7:NM_001282356:exon4:c.A274G:p.I92V",".",".","rs139913412",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.121,"T",1E-3,"B",2E-3,"B",0.005,"N",0.909,"N",0.255,"N",-2.86,"D",-0.83,"N",0.125,1.587,13.78,0.983,0.566,"D",-0.573,"T",0.447,"T",0.554,0,3.83,1.062,1.199,0.997,0.998,8.172,"FamilyBased",".","ASD","WES",".","."]
[352,22542183,4,148435962,148435962,"G","C","DeNovo",".",".","4q31.23","exonic","NR3C2",4306,".","nonsynonymous SNV","NR3C2:NM_000901:exon2:c.C899G:p.P300R,NR3C2:NM_001166104:exon2:c.C899G:p.P300R","Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy;Pseudohypoaldosteronism type I, autosomal dominant, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",0.998,"D",0.893,"P",0,"D",1,"D",0.895,"L",-3.58,"D",-2.4,"N",0.488,3.611,23.2,0.985,0.994,"D",0.7,"D",0.833,"D",0.732,0,4.29,0.917,1.048,0.998,0.989,13.684,"FamilyBased",".","ASD","WES",".","."]
[353,22542183,1,248474090,248474090,"C","T","DeNovo",".",".","1q44","exonic","OR2T3",343173,".","nonsynonymous SNV","OR2T3:NM_001005495:exon1:c.C740T:p.S247F",".",".","rs150934113",0.0166,0.0492,0.0072,0.0093,0.0142,0.0137,0.0184,0.0194,".",".",".",".",".",".",0.024,"D",0.886,"P",0.768,"P",".",".",1,"N",3.39,"M",1.22,"T",-5.67,"D",0.13,3.641,23.2,0.994,0.018,"N",-1.148,"T",2E-3,"T",0.672,0,-0.099,-1.121,-0.241,1E-3,2E-3,5.03,"FamilyBased",".","ASD","WES",".","."]
[355,22542183,17,77488797,77488797,"C","T","DeNovo",".",".","17q25.3","exonic","2021-09-09",10801,".","nonsynonymous SNV","SEPT9:NM_001113495:exon5:c.C859T:p.R287C,SEPT9:NM_001113496:exon5:c.C442T:p.R148C,SEPT9:NM_001293696:exon5:c.C523T:p.R175C,SEPT9:NM_001293697:exon5:c.C442T:p.R148C,SEPT9:NM_001293698:exon5:c.C442T:p.R148C,SEPT9:NM_001113493:exon6:c.C1174T:p.R392C,SEPT9:NM_001113494:exon6:c.C703T:p.R235C,SEPT9:NM_001293695:exon6:c.C1138T:p.R380C,SEPT9:NM_006640:exon6:c.C1141T:p.R381C,SEPT9:NM_001113491:exon7:c.C1195T:p.R399C,SEPT9:NM_001113492:exon7:c.C703T:p.R235C","Amyotrophy, hereditary neuralgic, Autosomal dominant;Leukemia, acute myeloid, therapy-related (1);Ovarian carcinoma (1);Amyotrophy, hereditary neuralgic, Autosomal dominant;Leukemia, acute myeloid, therapy-related (1);Ovarian carcinoma (1)","ID=COSM1386323,COSM1386325,COSM1386324;OCCURENCE=1(large_intestine)",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",1,"D",0,"D",1,"D",4.24,"H",-0.44,"T",-7.2,"D",0.956,7.698,35,0.999,0.82,"D",0.55,"D",0.631,"D",0.707,0,3.69,0.868,0.841,0.997,0.997,13.392,"FamilyBased",".","ASD","WES",".","."]
[359,22542183,20,24969604,24969604,"C","T","DeNovo",".",".","20p11.21","exonic","APMAP",57136,".","nonsynonymous SNV","APMAP:NM_020531:exon7:c.G770A:p.R257Q",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.379,"T",0.049,"B",0.011,"B",0,"N",0.991,"D",0.75,"N",1,"T",-0.61,"N",0.284,2.576,19.95,0.917,0.798,"D",-1.087,"T",0.062,"T",0.707,0,0.43,0.008,-0.307,0.975,0.979,9.337,"FamilyBased",".","ASD","WES",".","."]
[361,22542183,9,135484635,135484635,"C","T","DeNovo",".",".","9q34.3","exonic","PPP1R26",9858,".","nonsynonymous SNV","PPP1R26:NM_014811:exon4:c.C125T:p.S42L",".",".","rs773741384",{"v":2.55E-5,"d":"2.55E-05"},0,0,0,0,{"v":3.12e-05,"d":"3.12E-05"},0,{"v":6.07e-05,"d":"6.07E-05"},".",".",".",".",".",".",0.005,"D",0.854,"P",0.213,"B",0.155,"N",0.877,"N",1.735,"L",2.29,"T",-4.07,"D",0.477,3.509,23.1,0.996,0.919,"D",-1.056,"T",0.047,"T",0.707,0,5.32,0.871,0.935,0.031,0.013,17.975,"FamilyBased",".","ASD","WES",".","."]
[366,22542183,2,170962887,170962887,"T","G","DeNovo",".",".","2q31.1","exonic","GORASP2",26003,".","nonsynonymous SNV","GORASP2:NM_001201428:exon9:c.T755G:p.L252R,GORASP2:NM_015530:exon9:c.T959G:p.L320R",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.006,"D",0.895,"P",0.548,"P",0,"D",0.995,"D",1.995,"M",0.73,"T",-2.15,"N",0.441,5.101,25.3,0.996,0.987,"D",-0.909,"T",0.162,"T",0.707,0,5.24,0.991,1.061,0.995,0.995,15.31,"FamilyBased",".","ASD","WES",".","."]
[367,22542183,1,155018617,155018617,"G","A","DeNovo",".",".","1q21.3","exonic","DCST2",127579,".","nonsynonymous SNV","DCST2:NM_144622:exon15:c.C2249T:p.T750I",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.066,"T",0.198,"B",0.008,"B",".",".",1,"N",0,"N",1.9,"T",-0.22,"N",0.121,1.514,13.39,0.768,0.04,"N",-0.973,"T",0.01,"T",0.403,0,0.853,0.63,0.857,0.015,0.289,5.008,"FamilyBased",".","ASD","WES",".","."]
[368,22542183,11,1244676,1244676,"C","T","DeNovo",".",".","11p15.5","exonic","MUC5B",727897,".","nonsynonymous SNV","MUC5B:NM_002458:exon31:c.C7796T:p.T2599I",".",".","rs202020113",0.0271,0.0153,0.0049,0,0.0759,0.0357,0.0379,0.009,".",".",".",".",".",".",0.019,"D",0.004,"B",1E-3,"B",".",".",1,"N",1.195,"L",2.13,"T",-0.88,"N",0.065,-1.018,0.015,0.373,0.017,"N",-1.004,"T",0.036,"T",0.487,0,-1.43,-1.273,-0.799,0.006,0,4.499,"FamilyBased",".","ASD","WES",".","."]
[369,22542183,11,124884910,124884910,"G","A","DeNovo",".",".","11q24.2","exonic","ROBO4",54538,".","nonsynonymous SNV","ROBO4:NM_001301088:exon18:c.C2570T:p.S857F,ROBO4:NM_019055:exon18:c.C3005T:p.S1002F",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",0.005,"B",0.004,"B",".",".",1,"N",1.61,"L",0.12,"T",-1.25,"N",0.399,4.108,23.7,0.996,0.076,"N",-0.83,"T",0.208,"T",0.646,0,3.05,0.917,0.953,0.548,0.322,6.836,"FamilyBased",".","ASD","WES",".","."]
[372,22542183,3,1321790,1321790,"A","G","DeNovo",".",".","3p26.3","exonic","CNTN6",27255,".","nonsynonymous SNV","CNTN6:NM_001349357:exon6:c.A590G:p.N197S,CNTN6:NM_001289081:exon7:c.A686G:p.N229S,CNTN6:NM_001349356:exon7:c.A794G:p.N265S,CNTN6:NM_001289080:exon8:c.A902G:p.N301S,CNTN6:NM_014461:exon8:c.A902G:p.N301S,CNTN6:NM_001349352:exon9:c.A902G:p.N301S,CNTN6:NM_001349353:exon9:c.A902G:p.N301S,CNTN6:NM_001349354:exon9:c.A902G:p.N301S,CNTN6:NM_001349355:exon9:c.A902G:p.N301S,CNTN6:NM_001349350:exon10:c.A902G:p.N301S,CNTN6:NM_001349351:exon10:c.A902G:p.N301S",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",2E-3,"D",0.997,"D",0.973,"D",0,"D",1,"D",1.735,"L",-1.83,"D",-4.78,"D",0.429,5.893,27.4,0.999,0.988,"D",0.487,"D",0.693,"D",0.487,0,5.9,1.062,1.199,0.989,1,14.903,"FamilyBased",".","ASD","WES",".","."]
[373,22542183,8,87873269,87873269,"T","C","DeNovo",".",".","8q21.3","exonic","DCAF4L2",138009,".","nonsynonymous SNV","DCAF4L2:NM_152418:exon1:c.A703G:p.M235V",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.286,"T",0.008,"B",0.021,"B",0.873,"N",1,"N",0.895,"L",2.03,"T",-1.58,"N",0.094,-1.826,2E-3,0.312,0.301,"N",-0.987,"T",0.029,"T",0.554,0,-3.84,0.158,-0.173,0.944,0.014,3.641,"FamilyBased",".","ASD","WES",".","."]
[374,22542183,6,18207411,18207411,"C","T","DeNovo",".",".","6p22.3","exonic","KDM1B",221656,".","nonsynonymous SNV","KDM1B:NM_153042:exon12:c.C977T:p.S326L",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.606,"T",0.999,"D",0.994,"D",0.135,"N",1,"D",0.69,"N",2.99,"T",-1.8,"N",0.933,5.299,25.8,0.999,0.983,"D",0.399,"D",0.732,"D",0.651,0,5.57,0.871,0.852,0.998,0.999,19.558,"FamilyBased",".","ASD","WES",".","."]
[375,22542183,8,41934828,41934828,"C","T","DeNovo",".",".","8p11.21","exonic","KAT6A",7994,".","nonsynonymous SNV","KAT6A:NM_006766:exon17:c.G3392A:p.R1131H","Mental retardation, autosomal dominant 32, Autosomal dominant",".","rs141610909",{"v":8.31e-05,"d":"8.31E-05"},0.0009,{"v":8.64e-05,"d":"8.64E-05"},0,0,0,0,0,0.000599042,".",".",".",".",".",0.209,"T",0,"B",1E-3,"B",0.006,"N",0.974,"N",0.345,"N",0.26,"T",-0.44,"N",0.227,2.724,20.9,0.828,0.989,"D",-0.984,"T",0.13,"T",0.707,0,5.95,0.871,0.935,1,0.825,18.566,"FamilyBased",".","ASD","WES",".","."]
[377,22542183,2,32433688,32433688,"C","G","DeNovo",".",".","2p22.3","exonic","BIRC6",57448,".","nonsynonymous SNV","BIRC6:NM_016252:exon13:c.C3293G:p.A1098G",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.144,"T",0.982,"D",0.581,"P",0,"D",1,"D",0.695,"N",-0.82,"T",-2.09,"N",0.602,4.555,24.4,0.994,0.979,"D",-0.455,"T",0.314,"T",0.732,0,5.04,0.871,0.892,1,1,18.741,"FamilyBased",".","ASD","WES",".","."]
[380,22542183,11,17771983,17771983,"G","A","DeNovo",".",".","11p15.1","exonic","KCNC1",3746,".","nonsynonymous SNV","KCNC1:NM_001112741:exon2:c.G889A:p.G297S,KCNC1:NM_004976:exon2:c.G889A:p.G297S","Epilepsy, progressive myoclonic 7, Autosomal dominant",".","rs781542866",{"v":1.65e-05,"d":"1.65E-05"},0,0,0,0,{"v":3e-05,"d":"3.00E-05"},0,0,".",".",".",".",".",".",0.132,"T",1,"D",0.99,"D",0.555,"N",1,"D",1.275,"L",-4.85,"D",-3.33,"D",0.375,4.54,24.3,0.997,0.961,"D",0.672,"D",0.946,"D",0.487,0,4.94,0.917,1.048,0.99,0.858,18.175,"FamilyBased",".","ASD","WES",".","."]
[381,22542183,9,127508511,127508511,"C","T","DeNovo",".",".","9q34.11","exonic","FAM129B",64855,".","nonsynonymous SNV","FAM129B:NM_001035534:exon11:c.G1306A:p.E436K,FAM129B:NM_022833:exon11:c.G1345A:p.E449K",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.015,"D",1,"D",0.999,"D",0,"D",1,"D",2.305,"M",1.38,"T",-3.46,"D",0.963,7.829,35,0.999,0.982,"D",-0.627,"T",0.236,"T",0.672,0,5.36,0.871,0.87,0.994,0.992,16.569,"FamilyBased",".","ASD","WES",".","."]
[383,22542183,12,56638375,56638375,"A","G","DeNovo",".",".","12q13.3","exonic","ATP5B",506,".","nonsynonymous SNV","ATP5B:NM_001686:exon10:c.T1538C:p.I513T",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",0.998,"D",0.997,"D",0,"D",1,"D",3.99,"H",-1.09,"T",-2.03,"N",0.917,6.38,29.5,0.998,0.985,"D",0.787,"D",0.752,"D",0.707,0,5.47,1.062,1.199,1,1,14.535,"FamilyBased",".","ASD","WES",".","."]
[385,22542183,22,43068521,43068521,"G","A","DeNovo",".",".","22q13.2","exonic","TTLL1",25809,".","nonsynonymous SNV","TTLL1:NM_012263:exon5:c.C392T:p.P131L",".",".","rs754256538",{"v":8.28e-05,"d":"8.28E-05"},0,{"v":8.64e-05,"d":"8.64E-05"},1E-3,0,0,0,0,".",".",".",".",".",".",2E-3,"D",0.989,"D",0.909,"D",0,"D",1,"D",2.95,"M",3.44,"T",-9.66,"D",0.903,7.148,34,0.999,0.997,"D",0.183,"D",0.553,"D",0.615,0,5.54,0.917,0.953,0.996,0.997,19.481,"FamilyBased",".","ASD","WES",".","."]
[387,22542183,1,53509888,53509888,"A","C","DeNovo",".",".","1p32.3","exonic","GLIS1",148979,".","nonsynonymous SNV","GLIS1:NM_147193:exon8:c.T1498G:p.F500V",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.108,"T",0.664,"P",0.201,"B",0.021,"N",0.94,"D",1.04,"L",2.89,"T",-0.47,"N",0.583,5.877,27.4,0.988,0.902,"D",-0.965,"T",0.02,"T",0.497,0,3.91,1.062,1.14,0.989,0.967,12.034,"FamilyBased",".","ASD","WES",".","."]
[389,22542183,19,6926369,6926369,"G","A","DeNovo",".",".","19p13.2","exonic","ADGRE1",2015,".","nonsynonymous SNV","ADGRE1:NM_001256254:exon13:c.G1567A:p.G523S,ADGRE1:NM_001256255:exon13:c.G1459A:p.G487S,ADGRE1:NM_001256252:exon15:c.G1834A:p.G612S,ADGRE1:NM_001256253:exon15:c.G1795A:p.G599S,ADGRE1:NM_001974:exon16:c.G1990A:p.G664S",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.491,"T",0.811,"P",0.538,"P",".",".",1,"N",1.12,"L",1.08,"T",-1.68,"N",0.198,2.968,22.1,0.994,0.049,"N",-1.042,"T",0.084,"T",0.526,0,1.75,0.697,0.729,0.166,0.213,2.636,"FamilyBased",".","ASD","WES",".","."]
[390,22542183,14,92015723,92015723,"C","G","DeNovo",".",".","14q32.12","exonic","TRIP11",9321,".","nonsynonymous SNV","TRIP11:NM_001321851:exon6:c.G793C:p.E265Q,TRIP11:NM_004239:exon6:c.G796C:p.E266Q","Achondrogenesis, type IA, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.005,"D",0.996,"D",0.968,"D",0,"D",0.998,"D",2.395,"M",-0.16,"T",-1.37,"N",0.26,4.961,25,0.998,0.996,"D",-0.211,"T",0.406,"T",0.732,0,4.58,0.871,0.848,1,1,17.756,"FamilyBased",".","ASD","WES",".","."]
[391,22542183,11,17101391,17101391,"T","C","DeNovo",".",".","11p15.1","exonic","PIK3C2A",5286,".","nonsynonymous SNV","PIK3C2A:NM_001321380:exon24:c.A2755G:p.I919V,PIK3C2A:NM_002645:exon25:c.A3895G:p.I1299V,PIK3C2A:NM_001321378:exon26:c.A3895G:p.I1299V",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",0.247,"B",0.136,"B",0,"D",1,"D",2.315,"M",-1.58,"D",-0.95,"N",0.627,5.241,25.6,0.999,0.979,"D",0.033,"D",0.536,"D",0.732,0,5.49,0.991,1.061,1,1,15.872,"FamilyBased",".","ASD","WES",".","."]
[394,22542183,17,7805303,7805303,"C","T","DeNovo",".",".","17p13.1","exonic","DNAH2",146754,".","nonsynonymous SNV","DNAH2:NM_020877:exon61:c.C9352T:p.R3118W",".","ID=COSM179884;OCCURENCE=1(large_intestine)","rs746986584",{"v":8.24e-06,"d":"8.24E-06"},0,{"v":8.64e-05,"d":"8.64E-05"},0,0,0,0,0,".",".",".",".",".",".",1E-3,"D",1,"D",0.987,"D",0,"D",1,"D",3.09,"M",-0.85,"T",-6.31,"D",0.675,8.231,35,0.999,0.894,"D",0.479,"D",0.659,"D",0.497,0,5.52,0.871,0.892,0.998,0.997,18.211,"FamilyBased",".","ASD","WES",".","."]
[395,22542183,9,108874904,108874904,"G","A","DeNovo",".",".","9q31.3","exonic","ELP1",8518,".","nonsynonymous SNV","ELP1:NM_001330749:exon34:c.C2875T:p.P959S,ELP1:NM_001318360:exon36:c.C3580T:p.P1194S,ELP1:NM_003640:exon36:c.C3922T:p.P1308S",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.304,"T",0.014,"B",0.004,"B",2E-3,"N",0.706,"N",0.67,"N",2.18,"T",-1.57,"N",0.302,2.393,18.78,0.986,0.855,"D",-1.092,"T",0.042,"T",0.732,0,5.08,0.069,1.048,0.179,0.674,13.351,"FamilyBased",".","ASD","WES",".","."]
[399,22542183,7,11590558,11590558,"G","A","DeNovo",".",".","7p21.3","exonic","THSD7A",221981,".","nonsynonymous SNV","THSD7A:NM_015204:exon4:c.C1355T:p.T452M",".","ID=COSM1084364;OCCURENCE=1(endometrium)","rs767811878",{"v":4.16e-05,"d":"4.16E-05"},1E-4,{"v":8.69e-05,"d":"8.69E-05"},0,0,{"v":3.01E-5,"d":"3.01E-05"},0,{"v":6.08e-05,"d":"6.08E-05"},".",".",".",".",".",".",0.032,"D",0.595,"P",0.282,"B",0,"D",1,"D",2.485,"M",0.07,"T",-2.42,"N",0.861,7.23,34,0.999,0.987,"D",-0.5,"T",0.276,"T",0.563,0,5.8,0.917,1.048,0.992,0.99,20.055,"FamilyBased",".","ASD","WES",".","."]
[401,22542183,14,62081161,62081161,"C","T","DeNovo",".",".","14q23.2","exonic","SYT16",83851,".","nonsynonymous SNV","SYT16:NM_031914:exon4:c.C1321T:p.R441W",".",".","rs201514000",0.0007,1E-4,{"v":8.76e-05,"d":"8.76E-05"},0,0,0,0.0011,0.0046,0.000599042,".",".",".",".",".",".",".",0.999,"D",0.849,"P",0.047,"N",0.754,"D",1.24,"L",".",".",".",".",0.433,7.41,34,0.999,0.926,"D",0.138,"D",0.545,"D",0.554,0,4.96,0.871,0.935,0.961,0.988,18.778,"FamilyBased",".","ASD","WES",".","."]
[402,22542183,3,49713972,49713972,"A","G","DeNovo",".",".","3p21.31","exonic","RNF123",63891,".","nonsynonymous SNV","RNF123:NM_022064:exon30:c.A2900G:p.N967S",".",".","rs778150538",{"v":2.48E-5,"d":"2.48E-05"},0,0,1E-4,0,{"v":3.02e-05,"d":"3.02E-05"},0,0,".",".",".",".",".",".",0.021,"D",0.893,"P",0.371,"B",0,"D",1,"D",1.52,"L",-0.84,"T",-2.22,"N",0.255,5.502,26.2,0.999,0.977,"D",-0.529,"T",0.309,"T",0.635,0,5.68,1.062,1.199,1,1,15.118,"FamilyBased",".","ASD","WES",".","."]
[403,22542183,16,50751734,50751734,"T","C","DeNovo",".",".","16q12.1","exonic","CYLD",1540,".","nonsynonymous SNV","CYLD:NM_001042355:exon4:c.T635C:p.L212S,CYLD:NM_001042412:exon4:c.T635C:p.L212S,CYLD:NM_015247:exon5:c.T635C:p.L212S","Brooke-Spiegler syndrome, Autosomal dominant;Cylindromatosis, familial, Autosomal dominant;Trichoepithelioma, multiple familial, 1, Autosomal dominant",".","rs375434282",{"v":8.28e-06,"d":"8.28E-06"},0,0,0,0,{"v":1.5E-5,"d":"1.50E-05"},0,0,".",".",".",".",".",".",0.473,"T",0.992,"D",0.848,"P",0.013,"N",1,"D",0.345,"N",-0.94,"T",0.16,"N",0.813,2.675,20.7,0.993,0.982,"D",-0.536,"T",0.335,"T",0.706,0,5.89,0.991,0.964,0.987,0.996,16.313,"FamilyBased",".","ASD","WES",".","."]
[404,22542183,2,162317898,162317898,"T","G","DeNovo",".",".","2q24.2","exonic","IFIH1",64135,".","nonsynonymous SNV","IFIH1:NM_022168:exon1:c.A410C:p.K137T","Aicardi-Goutieres syndrome 7, Autosomal dominant;Singleton-Merten syndrome 1, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.506,"T",0.041,"B",0.016,"B",0.576,"N",1,"N",1.01,"L",2.05,"T",-0.21,"N",0.164,0.53,7.656,0.941,0.07,"N",-0.963,"T",0.03,"T",0.658,0,-0.319,0.018,-0.343,0.025,0.024,6.083,"FamilyBased",".","ASD","WES",".","."]
[405,22542183,22,20995791,20995791,"G","T","DeNovo",".",".","22q11.21","exonic","LZTR1",8216,".","nonsynonymous SNV","LZTR1:NM_006767:exon17:c.G1988T:p.G663V","Noonan syndrome 10, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",1,"D",0,"D",1,"D",3.225,"M",-0.56,"T",-5.1,"D",0.945,5.32,25.8,0.997,0.974,"D",0.398,"D",0.627,"D",0.707,0,5.84,0.917,1.048,0.028,0.365,17.622,"FamilyBased",".","ASD","WES",".","."]
[407,22542183,16,69319461,69319461,"G","A","DeNovo",".",".","16q22.1","exonic","VPS4A",27183,".","nonsynonymous SNV","VPS4A:NM_013245:exon6:c.G538A:p.V180M",".",".","rs573192094",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1E-3,"D",1,"D",0.991,"D",0,"D",1,"D",2.385,"M",-3.63,"D",-2.71,"D",0.896,6.958,33,0.999,0.982,"D",0.992,"D",0.913,"D",0.672,0,6.06,0.917,1.044,0.987,0.705,20.216,"FamilyBased",".","ASD","WES",".","."]
[408,22542183,1,85022319,85022319,"C","T","DeNovo",".",".","1p22.3","exonic","MCOLN3",55283,".","nonsynonymous SNV","MCOLN3:NM_001253693:exon9:c.G1009A:p.G337S,MCOLN3:NM_018298:exon10:c.G1177A:p.G393S",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.177,"T",0.386,"B",0.1,"B",0,"N",1,"D",1.2,"L",-0.26,"T",-1.78,"N",0.254,3.432,23,0.99,0.921,"D",-1.044,"T",0.089,"T",0.615,0,3.83,0.824,0.935,0.992,0.904,10.778,"FamilyBased",".","ASD","WES",".","."]
[411,22542183,"X",55731480,55731480,"A","G","DeNovo",".",".","Xp11.21","exonic","RRAGB",10325,".","nonsynonymous SNV","RRAGB:NM_006064:exon5:c.A410G:p.H137R,RRAGB:NM_016656:exon6:c.A494G:p.H165R",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.505,"T",0.003,"B",0.01,"B",0,"D",1,"D",0.22,"N",0.07,"T",-2.4,"N",0.749,0.655,8.529,0.937,0.981,"D",-1.006,"T",0.102,"T",".",".",4.61,1.062,1.199,1,1,11.309,"FamilyBased",".","ASD","WES",".","."]
[413,22542183,"X",154461303,154461303,"G","A","DeNovo",".",".","Xq28","exonic","PLXNA3",55558,".","nonsynonymous SNV","PLXNA3:NM_017514:exon3:c.G799A:p.A267T",".",".","rs145244142",1E-4,0.0005,0,0.0002,0,{"v":6.27e-05,"d":"6.27E-05"},0,0.0005,".",".",".",".",".",".",0.435,"T",0.1,"B",0.067,"B",0,"D",0.997,"N",1.355,"L",2.82,"T",-0.68,"N",0.207,-0.191,1.145,0.983,0.202,"N",-0.956,"T",0.02,"T",".",".",3.5,0.917,1.045,0.973,0.925,6.528,"FamilyBased",".","ASD","WES",".","."]
[415,22542183,3,152300327,152300327,"T","C","DeNovo",".",".","3q25.2","exonic","MBNL1",4154,".","nonsynonymous SNV","MBNL1:NM_207293:exon1:c.T134C:p.V45A,MBNL1:NM_207294:exon1:c.T134C:p.V45A,MBNL1:NM_207295:exon1:c.T134C:p.V45A,MBNL1:NM_207296:exon1:c.T134C:p.V45A,MBNL1:NM_207297:exon1:c.T134C:p.V45A,MBNL1:NM_021038:exon2:c.T134C:p.V45A,MBNL1:NM_207292:exon2:c.T134C:p.V45A",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.019,"D",0.982,"D",0.843,"P",0.003,"N",1,"D",2.665,"M",0.72,"T",-2.88,"D",0.824,2.52,19.59,0.993,0.972,"D",-0.405,"T",0.289,"T",0.722,0,5.31,0.991,1.061,1,1,15.321,"FamilyBased",".","ASD","WES",".","."]
[418,22542183,6,12123889,12123889,"G","T","DeNovo",".",".","6p24.1","exonic","HIVEP1",3096,".","nonsynonymous SNV","HIVEP1:NM_002114:exon4:c.G4094T:p.R1365L",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",0.999,"D",0.003,"N",1,"D",2.9,"M",1.78,"T",-6.53,"D",0.909,6.891,33,0.999,0.982,"D",-0.781,"T",0.179,"T",0.707,0,5.79,0.917,1.048,0.967,0.983,20.04,"FamilyBased",".","ASD","WES",".","."]
[423,22542183,4,38044426,38044426,"T","G","DeNovo",".",".","4p14","exonic","TBC1D1",23216,".","nonsynonymous SNV","TBC1D1:NM_001253912:exon9:c.T1478G:p.L493R,TBC1D1:NM_015173:exon9:c.T1478G:p.L493R",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",0.999,"D",0,"D",1,"D",2.31,"M",2.99,"T",-3.08,"D",0.952,6.614,32,0.998,0.959,"D",-0.739,"T",0.203,"T",0.745,0,5.91,0.991,1.061,0.995,0.998,16.01,"FamilyBased",".","ASD","WES",".","."]
[428,22542183,11,121554057,121554057,"A","G","DeNovo",".",".","11q24.1","exonic","SORL1",6653,".","nonsynonymous SNV","SORL1:NM_003105:exon17:c.A2387G:p.D796G",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.017,"D",0.997,"D",0.908,"P",0,"N",1,"D",3.525,"H",-3.08,"D",-6.61,"D",0.987,6.302,29.1,0.996,0.972,"D",1.024,"D",0.897,"D",0.672,0,5.48,1.062,1.088,1,1,15.581,"FamilyBased",".","ASD","WES",".","."]
[430,22542183,7,8127875,8127875,"T","C","DeNovo",".",".","7p21.3","exonic","ICA1",3382,".","nonsynonymous SNV","ICA1:NM_001350838:exon11:c.A1103G:p.Q368R,ICA1:NM_001350831:exon12:c.A1265G:p.Q422R,ICA1:NM_001350832:exon12:c.A1265G:p.Q422R,ICA1:NM_001350833:exon12:c.A1265G:p.Q422R,ICA1:NM_001350834:exon12:c.A1262G:p.Q421R,ICA1:NM_001136020:exon13:c.A1328G:p.Q443R,ICA1:NM_001276478:exon13:c.A1325G:p.Q442R,ICA1:NM_001350819:exon13:c.A1328G:p.Q443R,ICA1:NM_001350820:exon13:c.A1328G:p.Q443R,ICA1:NM_001350821:exon13:c.A1325G:p.Q442R,ICA1:NM_001350823:exon13:c.A1325G:p.Q442R,ICA1:NM_001350824:exon13:c.A1325G:p.Q442R,ICA1:NM_001350825:exon13:c.A1325G:p.Q442R,ICA1:NM_001350830:exon13:c.A1349G:p.Q450R,ICA1:NM_004968:exon13:c.A1328G:p.Q443R,ICA1:NM_022307:exon13:c.A1328G:p.Q443R,ICA1:NM_001350826:exon14:c.A1415G:p.Q472R,ICA1:NM_001350827:exon14:c.A1415G:p.Q472R,ICA1:NM_001350828:exon14:c.A1412G:p.Q471R,ICA1:NM_001350829:exon14:c.A1412G:p.Q471R,ICA1:NM_001350835:exon14:c.A1106G:p.Q369R,ICA1:NM_001350836:exon14:c.A1106G:p.Q369R,ICA1:NM_001350837:exon14:c.A1106G:p.Q369R",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.177,"T",0.005,"B",0.006,"B",0.471,"N",0.851,"N",0.55,"N",".",".",-1.19,"N",0.049,0.237,5.065,0.797,0.599,"D",-1.021,"T",0.059,"T",0.707,0,1.96,-0.013,0.084,0.098,0.668,6.508,"FamilyBased",".","ASD","WES",".","."]
[432,22542183,7,18585326,18585326,"C","T","DeNovo",".",".","7p21.1","exonic","HDAC9",9734,".","nonsynonymous SNV","HDAC9:NM_058176:exon2:c.C68T:p.P23L,HDAC9:NM_178425:exon2:c.C68T:p.P23L,HDAC9:NM_001204145:exon3:c.C68T:p.P23L,HDAC9:NM_001204146:exon3:c.C68T:p.P23L,HDAC9:NM_001321874:exon3:c.C68T:p.P23L,HDAC9:NM_001321875:exon3:c.C68T:p.P23L,HDAC9:NM_001321876:exon3:c.C68T:p.P23L,HDAC9:NM_001321877:exon3:c.C68T:p.P23L,HDAC9:NM_001321878:exon3:c.C68T:p.P23L,HDAC9:NM_001321879:exon3:c.C68T:p.P23L,HDAC9:NM_001321884:exon3:c.C68T:p.P23L,HDAC9:NM_001321885:exon3:c.C68T:p.P23L,HDAC9:NM_001321888:exon3:c.C68T:p.P23L,HDAC9:NM_001321890:exon3:c.C68T:p.P23L,HDAC9:NM_001321891:exon3:c.C68T:p.P23L,HDAC9:NM_001321895:exon3:c.C68T:p.P23L,HDAC9:NM_001321898:exon3:c.C68T:p.P23L,HDAC9:NM_001321900:exon3:c.C68T:p.P23L,HDAC9:NM_001321901:exon3:c.C68T:p.P23L,HDAC9:NM_001321902:exon3:c.C68T:p.P23L,HDAC9:NM_014707:exon3:c.C68T:p.P23L,HDAC9:NM_178423:exon3:c.C68T:p.P23L,HDAC9:NM_001321868:exon4:c.C134T:p.P45L,HDAC9:NM_001321869:exon4:c.C134T:p.P45L,HDAC9:NM_001321870:exon4:c.C134T:p.P45L,HDAC9:NM_001321871:exon4:c.C134T:p.P45L,HDAC9:NM_001321872:exon4:c.C134T:p.P45L,HDAC9:NM_001321873:exon4:c.C134T:p.P45L,HDAC9:NM_001321893:exon4:c.C68T:p.P23L,HDAC9:NM_001321894:exon4:c.C68T:p.P23L,HDAC9:NM_001321897:exon4:c.C68T:p.P23L,HDAC9:NM_001321899:exon4:c.C68T:p.P23L,HDAC9:NM_001204144:exon5:c.C194T:p.P65L",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.006,"D",1,"D",0.999,"D",0.004,"N",1,"D",2.095,"M",0.57,"T",-3.67,"D",0.907,6.816,32,0.999,0.985,"D",0.375,"D",0.676,"D",0.744,0,5.93,0.871,0.935,0.998,0.998,20.337,"FamilyBased",".","ASD","WES",".","."]
[434,22542183,2,151655921,151655921,"T","C","DeNovo",".",".","2q23.3","exonic","NEB",4703,".","nonsynonymous SNV","NEB:NM_001164507:exon50:c.A6598G:p.S2200G,NEB:NM_001164508:exon50:c.A6598G:p.S2200G,NEB:NM_001271208:exon50:c.A6598G:p.S2200G,NEB:NM_004543:exon50:c.A6598G:p.S2200G","Nemaline myopathy 2, autosomal recessive, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.035,"D",0.874,"P",0.651,"P",0,"D",1,"D",2.405,"M",3.17,"T",-2.19,"N",0.512,5.116,25.4,0.998,0.979,"D",-1.16,"T",0.054,"T",0.554,0,5.3,0.991,1.061,0.999,0.998,15.412,"FamilyBased",".","ASD","WES",".","."]
[435,22542183,5,72456475,72456475,"T","C","DeNovo",".",".","5q13.2","exonic","ZNF366",167465,".","nonsynonymous SNV","ZNF366:NM_152625:exon3:c.A1453G:p.S485G",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.054,"T",0.996,"D",0.952,"D",0,"D",1,"D",1.17,"L",3.15,"T",-3.16,"D",0.712,4.881,24.9,0.998,0.909,"D",-1.164,"T",0.047,"T",0.556,0,5.48,0.991,1.061,1,1,15.61,"FamilyBased",".","ASD","WES",".","."]
[436,22542183,14,96385658,96385658,"G","A","DeNovo",".",".","14q32.2","exonic","GSKIP",51527,".","nonsynonymous SNV","GSKIP:NM_001271906:exon3:c.G394A:p.A132T,GSKIP:NM_001271904:exon4:c.G394A:p.A132T,GSKIP:NM_001271905:exon4:c.G394A:p.A132T,GSKIP:NM_016472:exon4:c.G394A:p.A132T",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.535,"T",0.423,"B",0.23,"B",0,"D",1,"D",1.59,"L",".",".",-0.65,"N",0.302,3.702,23.3,0.982,0.948,"D",-0.821,"T",0.225,"T",0.707,0,5.65,0.917,1.048,1,1,19.732,"FamilyBased",".","ASD","WES",".","."]
[437,22542183,13,114291641,114291641,"G","A","DeNovo",".",".","13q34","exonic","UPF3A",65110,".","nonsynonymous SNV","UPF3A:NM_080687:exon6:c.G596A:p.R199Q,UPF3A:NM_023011:exon7:c.G695A:p.R232Q",".",".","rs751840581",{"v":1.65e-05,"d":"1.65E-05"},0,0,0,0,{"v":3.01E-5,"d":"3.01E-05"},0,0,".",".",".",".",".",".",0.003,"D",1,"D",0.992,"D",0.013,"N",1,"D",2.485,"M",1.57,"T",-3.5,"D",0.604,6.847,33,0.999,0.971,"D",0.363,"D",0.672,"D",0.563,0,5.84,0.917,1.048,0.97,0.903,14.452,"FamilyBased",".","ASD","WES",".","."]
[439,22542183,11,103909729,103909729,"A","G","DeNovo",".",".","11q22.3","exonic","PDGFD",80310,".","nonsynonymous SNV","PDGFD:NM_025208:exon7:c.T1078C:p.C360R,PDGFD:NM_033135:exon7:c.T1060C:p.C354R",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",0.998,"D",0,"D",1,"D",2.125,"M",0.38,"T",-6.08,"D",0.974,5.896,27.5,0.998,0.97,"D",-0.329,"T",0.346,"T",0.615,0,5.91,1.062,1.199,0.976,0.945,16.351,"FamilyBased",".","ASD","WES",".","."]
[440,22542183,12,101305959,101305959,"A","G","DeNovo",".",".","12q23.2","exonic","UTP20",27340,".","nonsynonymous SNV","UTP20:NM_014503:exon16:c.A1826G:p.Y609C",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.135,"T",1,"D",0.971,"D",0,"D",1,"D",2.14,"M",-0.16,"T",-2.97,"D",0.858,4.518,24.3,0.998,0.988,"D",-0.296,"T",0.408,"T",0.707,0,5.61,1.062,1.088,1,1,15.807,"FamilyBased",".","ASD","WES",".","."]
[441,22542183,4,166074932,166074932,"C","T","DeNovo",".",".","4q32.3","exonic","TLL1",7092,".","nonsynonymous SNV","TLL1:NM_012464:exon17:c.C2243T:p.T748M","Atrial septal defect 6, Autosomal dominant","ID=COSM1428418;OCCURENCE=1(haematopoietic_and_lymphoid_tissue),1(large_intestine)","rs746510010",{"v":1.65e-05,"d":"1.65E-05"},0,0,0,0,{"v":3e-05,"d":"3.00E-05"},0,0,".",".",".",".",".",".",0.025,"D",1,"D",0.999,"D",0,"U",1,"D",2.95,"M",-4.21,"D",-4.55,"D",0.886,6.164,28.5,0.999,0.982,"D",1.066,"D",0.95,"D",0.638,0,5.72,0.871,0.935,0.988,0.835,20.25,"FamilyBased",".","ASD","WES",".","."]
[443,22542183,7,135394050,135394050,"G","A","DeNovo",".",".","7q33","exonic","CNOT4",4850,".","nonsynonymous SNV","CNOT4:NM_001008225:exon10:c.C1486T:p.P496S,CNOT4:NM_001190847:exon10:c.C1495T:p.P499S,CNOT4:NM_001190848:exon10:c.C1495T:p.P499S,CNOT4:NM_001190849:exon10:c.C1486T:p.P496S,CNOT4:NM_001190850:exon10:c.C1495T:p.P499S,CNOT4:NM_013316:exon10:c.C1486T:p.P496S",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.115,"T",0.996,"D",0.986,"D",0,"D",1,"D",0.46,"N",0.67,"T",-1.84,"N",0.94,2.535,19.69,0.991,0.986,"D",-0.885,"T",0.186,"T",0.707,0,5.96,0.917,1.048,1,1,19.41,"FamilyBased",".","ASD","WES",".","."]
[445,22542183,1,1959190,1959190,"C","T","DeNovo",".",".","1p36.33","exonic","CFAP74",85452,".","nonsynonymous SNV","CFAP74:NM_001304360:exon16:c.G1781A:p.G594E",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",1,"D",0,"D",0.963,"D",2.36,"M",".",".",".",".",0.735,3.227,22.8,0.997,0.877,"D",-0.107,"T",0.438,"T",0.403,0,4.72,0.598,0.852,0.997,0.997,15.56,"FamilyBased",".","ASD","WES",".","."]
[446,22542183,5,146233642,146233642,"G","A","DeNovo",".",".","5q32","exonic","RBM27",54439,".","nonsynonymous SNV","RBM27:NM_018989:exon7:c.G1043A:p.G348D",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.043,"D",0.999,"D",0.829,"P",0,"D",0.764,"D",0.345,"N",0.87,"T",-0.12,"N",0.592,4.513,24.3,0.998,0.986,"D",-1.013,"T",0.103,"T",0.732,0,4.9,0.917,0.998,0.907,0.178,13.765,"FamilyBased",".","ASD","WES",".","."]
[450,22542183,15,70058742,70058742,"T","C","DeNovo",".",".","15q23","exonic","TLE3",7090,".","nonsynonymous SNV","TLE3:NM_001282982:exon9:c.A671G:p.K224R,TLE3:NM_001105192:exon11:c.A839G:p.K280R,TLE3:NM_001282979:exon11:c.A839G:p.K280R,TLE3:NM_001282980:exon11:c.A839G:p.K280R,TLE3:NM_001282981:exon11:c.A818G:p.K273R,TLE3:NM_005078:exon11:c.A839G:p.K280R,TLE3:NM_020908:exon11:c.A839G:p.K280R",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.384,"T",0.289,"B",0.234,"B",0,"D",1,"D",1.525,"L",0.9,"T",-1.14,"N",0.591,1.067,11.03,0.972,0.956,"D",-0.941,"T",0.159,"T",0.707,0,5.44,0.991,1.061,0.997,0.973,15.652,"FamilyBased",".","ASD","WES",".","."]
[451,22542183,1,12777024,12777024,"C","T","DeNovo",".",".","1p36.21","exonic","PRAMEF12",390999,".","nonsynonymous SNV","PRAMEF12:NM_001080830:exon3:c.C877T:p.P293S",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.236,"T",0.015,"B",0.011,"B",0,"N",1,"N",1.48,"L",5.69,"T",-5.25,"D",0.13,1.158,11.53,0.805,0.091,"N",-0.93,"T",0.003,"T",0.487,0,1.92,0.871,0.007,0.039,0.05,8.016,"FamilyBased",".","ASD","WES",".","."]
[452,22542183,1,70148563,70148563,"T","A","DeNovo",".",".","1p31.1","exonic","LRRC40",55631,".","nonsynonymous SNV","LRRC40:NM_017768:exon14:c.A1627T:p.N543Y",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.082,"T",0.572,"P",0.309,"B",0.026,"N",0.885,"N",1.995,"M",0.1,"T",-1.44,"N",0.221,3.36,22.9,0.99,0.881,"D",-0.908,"T",0.127,"T",0.732,0,4.28,-0.013,1.061,0.445,0.987,13.124,"FamilyBased",".","ASD","WES",".","."]
[453,22542183,4,47937206,47937206,"T","A","DeNovo",".",".","4p12","exonic","CNGA1",1259,".","nonsynonymous SNV","CNGA1:NM_001142564:exon10:c.A1495T:p.M499L,CNGA1:NM_000087:exon11:c.A1288T:p.M430L","Retinitis pigmentosa 49",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"T",1E-3,"B",0,"B",0,"D",0.902,"D",-2.11,"N",-3.51,"D",1.46,"N",0.225,-0.786,0.046,0.735,0.855,"D",-0.501,"T",0.298,"T",0.638,0,2.62,0.991,0.964,1,1,2.909,"FamilyBased",".","ASD","WES",".","."]
[454,22542183,15,78788358,78788358,"C","T","DeNovo",".",".","15q25.1","exonic","ADAMTS7",11173,".","nonsynonymous SNV","ADAMTS7:NM_014272:exon8:c.G1195A:p.D399N",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.006,"D",1,"D",0.998,"D",0,"D",1,"D",4.235,"H",-2.82,"D",-4.69,"D",0.375,7.19,34,0.999,0.948,"D",1.072,"D",0.914,"D",0.744,0,5.37,0.871,0.892,1,1,16.595,"FamilyBased",".","ASD","WES",".","."]
[455,22542183,22,43537416,43537416,"C","T","DeNovo",".",".","22q13.2","exonic","EFCAB6",64800,".","nonsynonymous SNV","EFCAB6:NM_198856:exon27:c.G3553A:p.V1185M,EFCAB6:NM_022785:exon29:c.G4009A:p.V1337M",".",".","rs142679598",{"v":4.12e-05,"d":"4.12E-05"},0.0003,0,0,0,{"v":1.5E-5,"d":"1.50E-05"},0,{"v":6.06e-05,"d":"6.06E-05"},".",".",".",".",".",".",0.109,"T",0.954,"P",0.421,"B",0.006,"N",1,"N",1.61,"L",3.07,"T",-0.29,"N",0.058,1.705,14.44,0.959,0.023,"N",-0.97,"T",0.021,"T",0.526,0,-5.62,0.008,-0.34,0.739,0,1.926,"FamilyBased",".","ASD","WES",".","."]
[460,22542183,17,19357843,19357843,"C","A","DeNovo",".",".","17p11.2","exonic","B9D1",27077,".","nonsynonymous SNV","B9D1:NM_001321214:exon3:c.G241T:p.G81C,B9D1:NM_001321215:exon3:c.G241T:p.G81C,B9D1:NM_001321216:exon3:c.G241T:p.G81C,B9D1:NM_001321217:exon3:c.G241T:p.G81C,B9D1:NM_001321218:exon3:c.G241T:p.G81C,B9D1:NM_001321219:exon3:c.G241T:p.G81C,B9D1:NM_001330149:exon3:c.G241T:p.G81C,B9D1:NM_015681:exon3:c.G241T:p.G81C","Joubert syndrome 27, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1E-3,"D",1,"D",1,"D",0,"D",1,"D",3.54,"H",-0.73,"T",-7.75,"D",".",7.645,35,0.997,0.938,"D",0.53,"D",0.647,"D",0.706,0,5.36,0.871,0.935,0.999,0.992,16.587,"FamilyBased",".","ASD","WES",".","."]
[462,22542183,1,209839043,209839043,"T","A","DeNovo",".",".","1q32.2","exonic","DIEXF",27042,".","nonsynonymous SNV","DIEXF:NM_014388:exon7:c.T1197A:p.D399E",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.318,"T",0.118,"B",0.083,"B",0,"D",0.982,"D",-0.175,"N",1.02,"T",-0.74,"N",0.138,1.914,15.68,0.967,0.757,"D",-1.098,"T",0.056,"T",0.707,0,2.3,0.042,1.061,0.993,0.998,5.423,"FamilyBased",".","ASD","WES",".","."]
[466,22542183,1,155198167,155198167,"C","T","DeNovo",".",".","1q22","exonic","THBS3",7059,".","nonsynonymous SNV","THBS3:NM_001252608:exon16:c.G1768A:p.D590N,THBS3:NM_001252607:exon17:c.G2101A:p.D701N,THBS3:NM_007112:exon18:c.G2128A:p.D710N",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.178,"T",1,"D",1,"D",0,"D",1,"D",2,"M",-5.02,"D",-3.81,"D",0.102,5.894,27.4,0.999,0.927,"D",1.047,"D",0.946,"D",0.722,0,4.98,0.871,0.935,0.985,0.747,15.778,"FamilyBased",".","ASD","WES",".","."]
[467,22542183,7,26646527,26646527,"C","T","DeNovo",".",".","7p15.2","exonic","C7orf71",285941,".","nonsynonymous SNV","C7orf71:NM_001302625:exon3:c.C422T:p.P141L,C7orf71:NM_001145531:exon4:c.C497T:p.P166L",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WES",".","."]
[469,22542183,18,7023328,7023328,"C","A","DeNovo",".",".","18p11.31","exonic","LAMA1",284217,".","nonsynonymous SNV","LAMA1:NM_005559:exon19:c.G2537T:p.C846F","Poretti-Boltshauser syndrome, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",1,"D",0,"D",1,"D",3.895,"H",-3.4,"D",-9.26,"D",0.968,6.501,31,0.993,0.962,"D",1.087,"D",0.936,"D",0.626,0,5.47,0.871,0.923,0.985,0.248,19.336,"FamilyBased",".","ASD","WES",".","."]
[470,22542183,14,104949378,104949378,"G","A","DeNovo",".",".","14q32.33","exonic","AHNAK2",113146,".","nonsynonymous SNV","AHNAK2:NM_001350929:exon7:c.C5773T:p.P1925S,AHNAK2:NM_138420:exon7:c.C6073T:p.P2025S",".",".","rs202033888",0.0004,0.0037,0.0004,0,0,1E-4,0,0,0.000399361,".",".",".",".",".",0.016,"D",0.313,"B",0.221,"B",".",".",1,"N",3.5,"M",4.07,"T",-5.76,"D",0.215,3.166,22.7,0.997,0.045,"N",-1.058,"T",0.028,"T",0.707,0,1.77,0.83,0.803,0.004,0.003,5.659,"FamilyBased",".","ASD","WES",".","."]
[471,22542183,12,53160135,53160135,"G","A","DeNovo",".",".","12q13.13","exonic","CSAD",51380,".","nonsynonymous SNV","CSAD:NM_001244706:exon5:c.C452T:p.A151V,CSAD:NM_001244705:exon14:c.C1151T:p.A384V,CSAD:NM_015989:exon14:c.C1232T:p.A411V",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.701,"T",0.977,"D",0.796,"P",0,"D",1,"D",1.31,"L",1.09,"T",-0.8,"N",0.737,4.309,24,0.788,0.99,"D",-1.014,"T",0.156,"T",0.726,0,5.2,0.917,1.048,0.991,0.841,17.89,"FamilyBased",".","ASD","WES",".","."]
[472,22542183,"X",115306686,115306686,"T","C","DeNovo",".",".","Xq23","exonic","LUZP4",51213,".","nonsynonymous SNV","LUZP4:NM_001318840:exon3:c.T578C:p.V193A,LUZP4:NM_016383:exon4:c.T824C:p.V275A",".",".","rs146034702",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.186,"T",0.039,"B",0.007,"B",".",".",1,"N",0,"N",-1.18,"T",0.58,"N",0.074,1.681,14.3,0.945,1E-3,"N",-0.983,"T",0.118,"T",".",".",-3.16,-0.264,-0.594,1E-3,1E-3,7.166,"FamilyBased",".","ASD","WES",".","."]
[476,22542183,2,39717069,39717069,"C","T","DeNovo",".",".","2p22.1","exonic","TMEM178A",130733,".","nonsynonymous SNV","TMEM178A:NM_001167959:exon4:c.C166T:p.R56W,TMEM178A:NM_152390:exon4:c.C712T:p.R238W",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",0.998,"D",0,"D",1,"D",2.16,"M",-0.53,"T",-5.74,"D",0.963,7.048,33,0.999,0.819,"D",-0.02,"T",0.503,"D",0.693,0,5.01,0.871,0.935,1,1,14.038,"FamilyBased",".","ASD","WES",".","."]
[477,22542183,19,7669399,7669399,"G","A","DeNovo",".",".","19p13.2","exonic","RETN",56729,".","nonsynonymous SNV","RETN:NM_001193374:exon2:c.G73A:p.E25K,RETN:NM_020415:exon2:c.G73A:p.E25K",".",".","rs773214448",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.022,"D",0.549,"P",0.138,"B",0.23,"N",1,"N",1.32,"L",0.86,"T",-2.16,"N",0.121,2.633,20.4,0.993,0.539,"D",-1.006,"T",0.102,"T",0.598,0,3.65,0.917,0.1,0.036,0.01,10.758,"FamilyBased",".","ASD","WES",".","."]
[478,22542183,6,36138971,36138971,"C","T","DeNovo",".",".","6p21.31","exonic","MAPK13",5603,".","nonsynonymous SNV","MAPK13:NM_002754:exon11:c.C934T:p.R312W",".",".","rs779750672",{"v":1.66E-5,"d":"1.66E-05"},0,0,0,0.0002,{"v":1.51e-05,"d":"1.51E-05"},0,0,".",".",".",".",".",".",0.009,"D",0.999,"D",0.574,"P",0,"D",1,"D",1.995,"M",0.88,"T",-3.1,"D",0.521,7.82,35,0.999,0.914,"D",-0.935,"T",0.104,"T",0.706,0,5.16,0.871,0.852,0.999,1,14.37,"FamilyBased",".","ASD","WES",".","."]
[482,22542183,8,115604144,115604144,"C","T","DeNovo",".",".","8q23.3","exonic","TRPS1",7227,".","nonsynonymous SNV","TRPS1:NM_001282902:exon3:c.G1798A:p.A600T,TRPS1:NM_001330599:exon3:c.G1786A:p.A596T,TRPS1:NM_001282903:exon4:c.G1804A:p.A602T,TRPS1:NM_014112:exon4:c.G1825A:p.A609T","Trichorhinophalangeal syndrome, type I, Autosomal dominant;Trichorhinophalangeal syndrome, type III, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.007,"D",0.978,"D",0.736,"P",0,"D",1,"D",0.695,"N",2.61,"T",-0.44,"N",0.687,6.345,29.3,0.999,0.985,"D",-1.175,"T",0.051,"T",0.638,0,5.87,0.871,0.935,1,0.999,20.583,"FamilyBased",".","ASD","WES",".","."]
[486,22542183,2,61333913,61333913,"C","T","DeNovo",".",".","2p15","exonic","USP34",9736,".","nonsynonymous SNV","USP34:NM_014709:exon19:c.G2803A:p.G935R",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.709,"T",1,"D",0.997,"D",0,"D",1,"D",-0.425,"N",4.1,"T",-0.09,"N",0.856,2.849,21.6,0.998,0.993,"D",-0.614,"T",0.013,"T",0.732,0,5.85,0.871,0.931,0.997,0.999,20.171,"FamilyBased",".","ASD","WES",".","."]
[487,22542183,1,200598399,200598399,"A","G","DeNovo",".",".","1q32.1","exonic","KIF14",9928,".","nonsynonymous SNV","KIF14:NM_001305792:exon12:c.T914C:p.M305T,KIF14:NM_014875:exon14:c.T2387C:p.M796T",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.032,"D",0.668,"P",0.306,"B",0,"D",0.998,"D",1.2,"L",-0.63,"T",-3.24,"D",0.455,4.021,23.6,0.949,0.983,"D",-0.596,"T",0.262,"T",0.651,0,5.11,1.062,1.199,1,1,14.92,"FamilyBased",".","ASD","WES",".","."]
[489,22542183,17,64005113,64005113,"C","T","DeNovo",".",".","17q23.3","exonic","ICAM2",3384,".","nonsynonymous SNV","ICAM2:NM_000873:exon2:c.G322A:p.V108M,ICAM2:NM_001099787:exon3:c.G322A:p.V108M,ICAM2:NM_001099789:exon3:c.G322A:p.V108M,ICAM2:NM_001099786:exon4:c.G322A:p.V108M,ICAM2:NM_001099788:exon4:c.G322A:p.V108M",".","ID=COSM982841;OCCURENCE=1(endometrium)","rs778683888",{"v":8.38e-06,"d":"8.38E-06"},0,0,0,0,0,0,{"v":6.13e-05,"d":"6.13E-05"},".",".",".",".",".",".",0.119,"T",0.999,"D",0.869,"P",0.42,"N",1,"N",2.225,"M",3.66,"T",-2.21,"N",0.548,3.86,23.5,0.997,0.266,"N",-1.015,"T",0.139,"T",0.707,0,2.36,0.871,0.935,0.451,0.374,7.649,"FamilyBased",".","ASD","WES",".","."]
[490,22542183,17,63421048,63421048,"A","G","DeNovo",".",".","17q23.3","exonic","TANC2",26115,".","nonsynonymous SNV","TANC2:NM_025185:exon25:c.A5066G:p.H1689R",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.123,"T",0.932,"P",0.84,"P",0,"D",1,"D",0.695,"N",-0.31,"T",-3.11,"D",0.753,0.615,8.263,0.957,0.903,"D",-0.778,"T",0.252,"T",0.615,0,5.06,1.062,1.199,0.998,0.981,13.825,"FamilyBased",".","ASD","WES",".","."]
[491,22542183,19,2933530,2933530,"C","A","DeNovo",".",".","19p13.3","exonic","ZNF77",58492,".","nonsynonymous SNV","ZNF77:NM_021217:exon4:c.G1597T:p.A533S",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"T",0,"B",2E-3,"B",".",".",1,"N",-1.695,"N",3.19,"T",1.01,"N",0.074,-0.9,0.026,0.873,0,"N",-0.977,"T",0.004,"T",0.563,0,-5,0.666,-0.129,1E-3,0.016,3.316,"FamilyBased",".","ASD","WES",".","."]
[493,22542183,3,49132824,49132824,"G","A","DeNovo",".",".","3p21.31","exonic","LAMB2",3913,".","nonsynonymous SNV","LAMB2:NM_002292:exon1:c.C44T:p.P15L","Nephrotic syndrome, type 5, with or without ocular abnormalities;Pierson syndrome, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.387,"T",1E-3,"B",1E-3,"B",0.98,"N",1,"N",0,"N",1.35,"T",0.55,"N",0.284,2.591,20.1,0.873,0.194,"N",-1.045,"T",0.042,"T",0.447,0,3.73,0.63,0.003,0.308,0.838,9.303,"FamilyBased",".","ASD","WES",".","."]
[494,22542183,11,109423950,109423950,"G","A","DeNovo",".",".","11q22.3","exonic","C11orf87",399947,".","nonsynonymous SNV","C11orf87:NM_207645:exon2:c.G317A:p.C106Y",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.021,"D",0.997,"D",0.952,"D",0,"U",1,"D",0.695,"N",".",".",-6.04,"D",0.636,4.324,24,0.997,0.967,"D",-0.6,"T",0.247,"T",0.447,0,4.62,0.63,1.048,0.985,0.939,16.882,"FamilyBased",".","ASD","WES",".","."]
[495,22542183,9,126879551,126879551,"A","G","DeNovo",".",".","9q33.3","exonic","ZBTB34",403341,".","nonsynonymous SNV","ZBTB34:NM_001099270:exon2:c.A140G:p.K47R",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",0.573,"P",0.333,"B",0,"D",1,"D",-0.385,"N",-0.81,"T",0.26,"N",0.368,5.149,25.4,0.998,0.99,"D",-0.744,"T",0.198,"T",0.737,0,5.67,1.062,1.199,1,1,16.2,"FamilyBased",".","ASD","WES",".","."]
[496,22542183,3,122341445,122341445,"G","A","DeNovo",".",".","3q21.1","exonic","CSTA",1475,".","nonsynonymous SNV","CSTA:NM_005213:exon3:c.G175A:p.A59T","Peeling skin syndrome 4, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.032,"D",1E-3,"B",2E-3,"B",0.027,"N",1,"N",".",".",1.6,"T",-0.02,"N",0.191,1.913,15.67,0.978,0.048,"N",-1.058,"T",0.041,"T",0.554,0,0.516,0.069,1.045,1E-3,2E-3,4.367,"FamilyBased",".","ASD","WES",".","."]
[497,22542183,14,24236103,24236103,"A","G","DeNovo",".",".","14q12","exonic","GMPR2",51292,".","nonsynonymous SNV","GMPR2:NM_001283022:exon4:c.A482G:p.K161R,GMPR2:NM_001283023:exon4:c.A344G:p.K115R,GMPR2:NM_016576:exon4:c.A482G:p.K161R,GMPR2:NM_001002000:exon5:c.A428G:p.K143R,GMPR2:NM_001002001:exon5:c.A428G:p.K143R,GMPR2:NM_001002002:exon5:c.A428G:p.K143R,GMPR2:NM_001351022:exon5:c.A428G:p.K143R,GMPR2:NM_001351023:exon5:c.A428G:p.K143R,GMPR2:NM_001283021:exon6:c.A320G:p.K107R,GMPR2:NM_001351024:exon6:c.A320G:p.K107R,GMPR2:NM_001351025:exon6:c.A320G:p.K107R,GMPR2:NM_001351026:exon6:c.A320G:p.K107R",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.554,"T",0.044,"B",0.069,"B",0,"D",1,"D",0.675,"N",-1.24,"T",-0.23,"N",0.217,1.874,15.43,0.982,0.866,"D",-0.776,"T",0.25,"T",0.672,0,5.53,1.062,1.193,0.997,1,9.676,"FamilyBased",".","ASD","WES",".","."]
[500,22542183,5,180567868,180567868,"C","T","DeNovo",".",".","5q35.3","exonic","CNOT6",57472,".","nonsynonymous SNV","CNOT6:NM_001303241:exon11:c.C892T:p.H298Y",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.092,"T",0.711,"P",0.627,"P",0,"D",1,"D",1.495,"L",-1.33,"T",-3.86,"D",0.799,3.599,23.2,0.995,0.988,"D",-0.168,"T",0.53,"D",0.707,0,5.76,0.871,0.935,1,1,20.324,"FamilyBased",".","ASD","WES",".","."]
[503,22542183,2,1654418,1654418,"C","T","DeNovo",".",".","2p25.3","exonic","PXDN",7837,".","nonsynonymous SNV","PXDN:NM_012293:exon15:c.G1928A:p.R643Q","Anterior segment dysgenesis 7, with sclerocornea, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.328,"T",1,"D",0.988,"D",0,"D",1,"D",2.295,"M",0.14,"T",-1.94,"N",0.688,3.349,22.9,0.999,0.964,"D",-0.527,"T",0.377,"T",0.757,0,5.53,0.871,0.892,0.893,0.272,19.52,"FamilyBased",".","ASD","WES",".","."]
[505,22542183,12,57028838,57028838,"C","T","DeNovo",".",".","12q13.3","exonic","MYO1A",4640,".","nonsynonymous SNV","MYO1A:NM_005379:exon28:c.G3049A:p.V1017I,MYO1A:NM_001256041:exon29:c.G3049A:p.V1017I",".",".","rs373699223",1E-4,1E-3,0.0002,0,0,{"v":3e-05,"d":"3.00E-05"},0.0011,0,1.99681E-4,".",".",".",".",".",1,"T",0.004,"B",0.005,"B",0.004,"N",1,"D",-1.345,"N",1.37,"T",0.08,"N",0.03,0.547,7.783,0.685,0.116,"N",-0.974,"T",0.022,"T",0.516,0,-0.263,0.057,-0.297,0.642,0.563,7.509,"FamilyBased",".","ASD","WES",".","."]
[506,22542183,13,27255273,27255273,"A","G","DeNovo",".",".","13q12.2","exonic","RPL21",6144,".","nonsynonymous SNV","RPL21:NM_000982:exon4:c.A161G:p.H54R","Hypotrichosis 12, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.016,"D",0.088,"B",0.139,"B",0,"U",1,"D",3.715,"H",-0.36,"T",-6.44,"D",0.908,3.142,22.6,0.986,0.969,"D",-0.091,"T",0.436,"T",0.722,0,4.84,1.039,1.085,1,0.999,14.701,"FamilyBased",".","ASD","WES",".","."]
[510,22542183,12,6749874,6749874,"C","T","DeNovo",".",".","12p13.31","exonic","MLF2",8079,".","nonsynonymous SNV","MLF2:NM_005439:exon7:c.G533A:p.R178Q",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.137,"T",0.99,"D",0.695,"P",0,"D",1,"D",1.675,"L",".",".",-1.57,"N",0.881,6.541,31,0.999,0.992,"D",-0.801,"T",0.255,"T",0.707,0,5.83,0.871,0.932,1,1,20.124,"FamilyBased",".","ASD","WES",".","."]
[511,22542183,3,179887736,179887736,"C","T","DeNovo",".",".","3q26.33","exonic","PEX5L",51555,".","nonsynonymous SNV","PEX5L:NM_001256753:exon2:c.G70A:p.D24N,PEX5L:NM_001256751:exon3:c.G175A:p.D59N,PEX5L:NM_001256752:exon3:c.G142A:p.D48N,PEX5L:NM_001349392:exon3:c.G214A:p.D72N,PEX5L:NM_001349397:exon3:c.G214A:p.D72N,PEX5L:NM_001349398:exon3:c.G175A:p.D59N,PEX5L:NM_001256750:exon4:c.G241A:p.D81N,PEX5L:NM_001256754:exon4:c.G118A:p.D40N,PEX5L:NM_001256755:exon4:c.G118A:p.D40N,PEX5L:NM_001349388:exon4:c.G319A:p.D107N,PEX5L:NM_001349390:exon4:c.G307A:p.D103N,PEX5L:NM_001349393:exon4:c.G214A:p.D72N,PEX5L:NM_001349395:exon4:c.G118A:p.D40N,PEX5L:NM_001349396:exon4:c.G241A:p.D81N,PEX5L:NM_016559:exon4:c.G247A:p.D83N,PEX5L:NM_001349386:exon5:c.G412A:p.D138N,PEX5L:NM_001349387:exon5:c.G319A:p.D107N,PEX5L:NM_001349389:exon5:c.G313A:p.D105N,PEX5L:NM_001349391:exon5:c.G412A:p.D138N,PEX5L:NM_001349394:exon5:c.G319A:p.D107N",".",".","rs751114992",{"v":8.24e-06,"d":"8.24E-06"},0,0,0,0,{"v":1.5E-5,"d":"1.50E-05"},0,0,".",".",".",".",".",".",0.006,"D",1,"D",0.999,"D",0,"D",1,"D",0.975,"L",-3.12,"D",-1.22,"N",0.237,7.308,34,0.999,0.982,"D",0.978,"D",0.883,"D",0.554,0,5.62,0.871,0.935,1,0.999,19.669,"FamilyBased",".","ASD","WES",".","."]
[512,22542183,16,30724603,30724603,"A","T","DeNovo",".",".","16p11.2","exonic","SRCAP",10847,".","nonsynonymous SNV","SRCAP:NM_006662:exon25:c.A5179T:p.T1727S","Floating-Harbor syndrome, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.008,"D",0.005,"B",0.005,"B",0.197,"N",0.998,"N",0.345,"N",-2.7,"D",-0.31,"N",0.025,0.719,8.95,0.762,0.29,"N",-0.668,"T",0.421,"T",0.707,0,-1.75,0.079,0.23,0.996,0.995,1.858,"FamilyBased",".","ASD","WES",".","."]
[515,22542183,17,41756192,41756192,"T","C","DeNovo",".",".","17q21.2","exonic","JUP",3728,".","nonsynonymous SNV","JUP:NM_002230:exon13:c.A2069G:p.N690S,JUP:NM_021991:exon13:c.A2069G:p.N690S","Arrhythmogenic right ventricular dysplasia 12, Autosomal dominant;Naxos disease, Autosomal recessive",".","rs147628503",{"v":7.66e-05,"d":"7.66E-05"},0,0,0,0.0002,1E-4,0,0,".","Uncertain significance|Uncertain significance|Uncertain significance|Uncertain significance","not_specified|Paroxysmal_familial_ventricular_fibrillation_1|Arrhythmogenic_right_ventricular_cardiomyopathy\\x2c_type_12|Naxos_disease","RCV000150847.2|RCV000208373.1|RCV000227308.1|RCV000227308.1","MedGen|MedGen:OMIM|MedGen:OMIM|MedGen:OMIM:Orphanet","CN169374|C2751898:603829|C1969081:611528|C1832600:601214:ORPHA34217",0.553,"T",0.088,"B",0.039,"B",0.004,"N",1,"D",0.895,"L",0.2,"T",-0.43,"N",0.043,1.024,10.8,0.54,0.811,"D",-1.044,"T",0.106,"T",0.732,0,3.84,0.079,0.152,0.988,0.667,9.004,"FamilyBased",".","ASD","WES",".","."]
[517,22542183,5,116000442,116000442,"A","G","DeNovo",".",".","5q23.1","exonic","LVRN",206338,".","nonsynonymous SNV","LVRN:NM_173800:exon8:c.A1525G:p.M509V",".",".","rs140238368",{"v":2.47e-05,"d":"2.47E-05"},0.0003,0,0,0,0,0,0,1.99681E-4,".",".",".",".",".",1,"T",2E-3,"B",0.003,"B",0.989,"N",1,"N",-0.465,"N",4.01,"T",1.65,"N",0.182,-1.872,2E-3,0.379,0.074,"N",-0.937,"T",0.003,"T",0.487,0,-11.5,-0.249,-0.246,0.873,0.202,7.3,"FamilyBased",".","ASD","WES",".","."]
[518,22542183,10,96952154,96952154,"C","T","DeNovo",".",".","10q24.1","exonic","LCOR",84458,".","nonsynonymous SNV","LCOR:NM_001170765:exon7:c.C290T:p.S97F,LCOR:NM_001170766:exon7:c.C290T:p.S97F,LCOR:NM_001346516:exon7:c.C290T:p.S97F,LCOR:NM_032440:exon7:c.C290T:p.S97F",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.005,"D",0.42,"B",0.048,"B",0.003,"N",0.981,"D",1.04,"L",".",".",-2.74,"D",0.534,6.24,28.9,0.998,0.975,"D",-0.849,"T",0.154,"T",0.651,0,5.97,0.871,0.892,1,0.998,20.432,"FamilyBased",".","ASD","WES",".","."]
[521,22542183,22,21958603,21958603,"A","G","DeNovo",".",".","22q11.22","exonic","TOP3B",8940,".","nonsynonymous SNV","TOP3B:NM_001282112:exon17:c.T1996C:p.C666R,TOP3B:NM_001282113:exon17:c.T1996C:p.C666R,TOP3B:NM_003935:exon17:c.T1996C:p.C666R,TOP3B:NM_001349845:exon18:c.T1996C:p.C666R,TOP3B:NM_001349847:exon18:c.T1996C:p.C666R,TOP3B:NM_001349848:exon18:c.T1588C:p.C530R,TOP3B:NM_001349851:exon18:c.T1588C:p.C530R,TOP3B:NM_001349850:exon19:c.T1588C:p.C530R,TOP3B:NM_001349852:exon19:c.T1588C:p.C530R",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",1,"D",0,"D",1,"D",3.46,"M",1.47,"T",-11.54,"D",0.909,5.99,27.8,0.998,0.986,"D",-0.287,"T",0.281,"T",0.672,0,5.7,1.039,1.184,0.997,0.947,15.976,"FamilyBased",".","ASD","WES",".","."]
[522,22542183,7,151071749,151071749,"G","T","DeNovo",".",".","7q36.1","exonic","SLC4A2",6522,".","nonsynonymous SNV","SLC4A2:NM_001199693:exon14:c.G2225T:p.G742V,SLC4A2:NM_001199694:exon14:c.G2210T:p.G737V,SLC4A2:NM_001199692:exon15:c.G2252T:p.G751V,SLC4A2:NM_003040:exon15:c.G2252T:p.G751V",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1E-3,"D",0.998,"D",0.989,"D",0,"D",1,"D",3.975,"H",-1.58,"D",-7.44,"D",0.969,5.284,25.7,0.997,0.94,"D",0.893,"D",0.811,"D",0.707,0,4.69,0.917,1.045,0.975,0.681,15.171,"FamilyBased",".","ASD","WES",".","."]
[524,22542183,17,6812943,6812943,"G","T","DeNovo",".",".","17p13.1","exonic","TEKT1",83659,".","nonsynonymous SNV","TEKT1:NM_053285:exon6:c.C740A:p.S247Y",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.085,"T",0.299,"B",0.285,"B",0.008,"N",0.917,"D",2.3,"M",4.21,"T",-2.56,"D",0.515,1.941,15.84,0.994,0.804,"D",-1.087,"T",0.016,"T",0.487,0,2.73,0.63,0.882,0.997,0.997,8.369,"FamilyBased",".","ASD","WES",".","."]
[525,22542183,1,33864328,33864328,"C","T","DeNovo",".",".","1p35.1","exonic","HMGB4",127540,".","nonsynonymous SNV","HMGB4:NM_145205:exon2:c.C137T:p.S46L",".",".","rs143017203",1E-4,1E-3,0.0002,0,0,{"v":4.5e-05,"d":"4.50E-05"},0,0,0.000399361,".",".",".",".",".",0.026,"D",1,"D",0.998,"D",0,"D",1,"D",2.61,"M",1.86,"T",-5.17,"D",0.858,4.939,25,0.999,0.969,"D",-0.856,"T",0.161,"T",0.487,0,3.73,0.871,0.935,0.999,0.994,9.045,"FamilyBased",".","ASD","WES",".","."]
[527,22542183,6,42829208,42829208,"C","G","DeNovo",".",".","6p21.1","exonic","BICRAL",23506,".","nonsynonymous SNV","BICRAL:NM_015349:exon5:c.C875G:p.P292R,BICRAL:NM_001318819:exon7:c.C875G:p.P292R",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.006,"D",1,"D",0.998,"D",0,"D",1,"D",1.845,"L",1.2,"T",-2.74,"D",0.914,4.111,23.7,0.998,0.991,"D",-0.89,"T",0.167,"T",0.707,0,5.22,0.871,0.935,0.997,0.991,19.162,"FamilyBased",".","ASD","WES",".","."]
[528,22542183,12,123893245,123893245,"C","T","DeNovo",".",".","12q24.31","exonic","DNAH10",196385,".","nonsynonymous SNV","DNAH10:NM_207437:exon52:c.C8654T:p.A2885V",".","ID=COSM272594,COSM272593;OCCURENCE=1(large_intestine)","rs201720388",{"v":5.12e-05,"d":"5.12E-05"},0.0003,0.0002,0,0,{"v":1.54e-05,"d":"1.54E-05"},0,0,0.000399361,".",".",".",".",".",2E-3,"D",1,"D",0.999,"D",0,"U",1,"D",2.97,"M",0.94,"T",-3.86,"D",0.34,6.327,29.3,0.999,0.977,"D",-0.257,"T",0.328,"T",0.497,0,4.7,0.871,0.935,0.339,0.086,18.188,"FamilyBased",".","ASD","WES",".","."]
[529,22542183,19,38365061,38365061,"G","A","DeNovo",".",".","19q13.2","exonic","CATSPERG",57828,".","nonsynonymous SNV","CATSPERG:NM_001330496:exon21:c.G2437A:p.V813M,CATSPERG:NM_021185:exon22:c.G2557A:p.V853M",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.003,"D",1,"D",0.999,"D",0.007,"N",1,"D",2.175,"M",1.28,"T",-1.49,"N",0.526,4.575,24.4,0.998,0.891,"D",-0.781,"T",0.202,"T",0.549,0,4.5,0.917,1.048,0.057,0.086,12.562,"FamilyBased",".","ASD","WES",".","."]
[530,22542183,3,195782557,195782557,"G","A","DeNovo",".",".","3q29","exonic","MUC4",4585,".","nonsynonymous SNV","MUC4:NM_018406:exon2:c.C9023T:p.S3008F",".","ID=COSM4005416,COSM4005417;OCCURENCE=1(urinary_tract)",".",0.0004,0.0007,0,0.0046,0,0.0006,0,0.0002,".",".",".",".",".",".",0.039,"D",0.976,"D",0.799,"P",".",".",1,"D",0.345,"N",1.37,"T",-0.87,"N",0.089,0.202,4.698,0.903,0.043,"N",-1.063,"T",0.072,"T",0.554,0,".",0.562,0.2,0.004,0.005,4.27,"FamilyBased",".","ASD","WES",".","."]
[531,22542183,10,110890578,110890578,"G","A","DeNovo",".",".","10q25.2","exonic","PDCD4",27250,".","nonsynonymous SNV","PDCD4:NM_001199492:exon8:c.G856A:p.V286M,PDCD4:NM_014456:exon8:c.G898A:p.V300M,PDCD4:NM_145341:exon9:c.G865A:p.V289M",".",".","rs367566735",{"v":4.95e-05,"d":"4.95E-05"},{"v":9.61e-05,"d":"9.61E-05"},0,0,0,{"v":6e-05,"d":"6.00E-05"},0,{"v":6.06e-05,"d":"6.06E-05"},".",".",".",".",".",".",0.017,"D",0.861,"P",0.209,"B",0,"D",1,"D",2.25,"M",0.93,"T",-0.79,"N",0.628,6.126,28.4,0.998,0.991,"D",-0.798,"T",0.133,"T",0.732,0,5.34,0.917,1.048,0.998,0.989,19.044,"FamilyBased",".","ASD","WES",".","."]
[534,22542183,7,100993010,100993010,"C","T","DeNovo",".",".","7q22.1","exonic","MUC12",10071,".","nonsynonymous SNV","MUC12:NM_001164462:exon2:c.C2447T:p.T816M",".",".","rs369484988",1.8E-3,0.0025,0,0,0,1.8E-3,0,0.0022,3.79393E-3,".",".",".",".",".",0.127,"T",".",".",".",".",".",".",1,"N",0,"N",2.7,"T",-0.47,"N",0.069,0.494,7.386,0.595,0.014,"N",-0.968,"T",0.013,"T",0.554,0,0.481,0.412,0.404,2E-3,2E-3,6.766,"FamilyBased",".","ASD","WES",".","."]
[535,22542183,3,38606772,38606772,"T","A","DeNovo",".",".","3p22.2","exonic","SCN5A",6331,".","nonsynonymous SNV","SCN5A:NM_000335:exon9:c.A1037T:p.E346V,SCN5A:NM_001099404:exon9:c.A1037T:p.E346V,SCN5A:NM_001099405:exon9:c.A1037T:p.E346V,SCN5A:NM_001160160:exon9:c.A1037T:p.E346V,SCN5A:NM_001160161:exon9:c.A1037T:p.E346V,SCN5A:NM_198056:exon9:c.A1037T:p.E346V","Atrial fibrillation, familial, 10, Autosomal dominant;Brugada syndrome 1, Autosomal dominant;Cardiomyopathy, dilated, 1E, Autosomal dominant;Heart block, nonprogressive, Autosomal dominant;Heart block, progressive, type IA, Autosomal dominant;Long QT syndrome-3, Autosomal dominant;Sick sinus syndrome 1, Autosomal recessive;Ventricular fibrillation, familial, 1",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.015,"D",0.227,"B",0.23,"B",2E-3,"N",0.862,"D",1.39,"L",-5.04,"D",-3.68,"D",0.486,2.548,19.78,0.98,0.484,"N",0.962,"D",0.894,"D",0.615,0,4.73,0.991,0.964,0.978,0.794,7.259,"FamilyBased",".","ASD","WES",".","."]
[541,22542183,17,59088378,59088378,"T","G","DeNovo",".",".","17q22","exonic","TRIM37",4591,".","nonsynonymous SNV","TRIM37:NM_001320987:exon3:c.A92C:p.N31T,TRIM37:NM_001005207:exon4:c.A194C:p.N65T,TRIM37:NM_001320988:exon4:c.A194C:p.N65T,TRIM37:NM_001320989:exon4:c.A194C:p.N65T,TRIM37:NM_015294:exon4:c.A194C:p.N65T","Mulibrey nanism, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.019,"D",1,"D",0.987,"D",0,"D",1,"D",0.895,"L",2.35,"T",-4.28,"D",0.389,6.073,28.1,0.996,0.962,"D",-1.093,"T",0.076,"T",0.732,0,5.2,0.991,1.058,0.992,0.996,14.741,"FamilyBased",".","ASD","WES",".","."]
[542,22542183,4,48540739,48540739,"C","T","DeNovo",".",".","4p11","exonic","FRYL",285527,".","nonsynonymous SNV","FRYL:NM_015030:exon46:c.G5909A:p.S1970N",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.389,"T",0.019,"B",0.014,"B",0.058,"N",1,"N",-0.345,"N",1.43,"T",0.06,"N",0.088,-1.51,0.003,0.812,0.239,"N",-1.023,"T",0.033,"T",0.732,0,3.53,-0.011,0.059,0.598,2E-3,10.343,"FamilyBased",".","ASD","WES",".","."]
[544,22542183,6,36479134,36479134,"G","C","DeNovo",".",".","6p21.31","exonic","KCTD20",222658,".","nonsynonymous SNV","KCTD20:NM_001286580:exon3:c.G13C:p.G5R,KCTD20:NM_173562:exon4:c.G448C:p.G150R",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.08,"T",1,"D",0.995,"D",0,"D",1,"D",1.655,"L",0.71,"T",-2.33,"N",0.728,5.525,26.3,0.999,0.996,"D",-0.361,"T",0.442,"T",0.707,0,5.16,0.917,1.045,0.999,1,18.849,"FamilyBased",".","ASD","WES",".","."]
[546,22542183,17,63880682,63880682,"A","T","DeNovo",".",".","17q23.3","exonic","GH2",2689,".","nonsynonymous SNV","GH2:NM_022557:exon4:c.T546A:p.S182R",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1E-3,"D",0,"B",0,"B",0.048,"N",1,"N",".",".",-2.43,"D",0.04,"N",0.043,2.255,17.87,0.973,0.004,"N",-0.633,"T",0.477,"T",0.497,0,-3.5,0.042,-0.021,1E-3,1E-3,2.365,"FamilyBased",".","ASD","WES",".","."]
[550,22542183,9,122148192,122148192,"G","T","DeNovo",".",".","9q33.2","exonic","NDUFA8",4702,".","nonsynonymous SNV","NDUFA8:NM_001318195:exon3:c.C301A:p.R101S,NDUFA8:NM_014222:exon3:c.C301A:p.R101S",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1E-3,"D",1,"D",0.995,"D",0,"D",1,"D",2.965,"M",-1.19,"T",-5.57,"D",0.929,7.556,34,0.998,0.991,"D",0.532,"D",0.676,"D",0.707,0,5.09,0.917,0.891,0.973,0.936,15.999,"FamilyBased",".","ASD","WES",".","."]
[552,22542183,15,85575307,85575307,"T","C","DeNovo",".",".","15q25.3","exonic","AKAP13",11214,".","nonsynonymous SNV","AKAP13:NM_006738:exon6:c.T839C:p.M280T,AKAP13:NM_007200:exon6:c.T839C:p.M280T",".",".","rs547831166",{"v":8.24e-06,"d":"8.24E-06"},{"v":9.62e-05,"d":"9.62E-05"},0,0,0,0,0,0,1.99681E-4,".",".",".",".",".",2E-3,"D",0.867,"P",0.382,"B",".",".",0.939,"N",0.895,"L",3.53,"T",-2.03,"N",0.507,2.577,19.96,0.974,0.609,"D",-1.056,"T",0.024,"T",0.707,0,0.138,0.97,1.058,1,1,13.203,"FamilyBased",".","ASD","WES",".","."]
[553,22542183,18,47848666,47848666,"G","A","DeNovo",".",".","18q21.1","exonic","SMAD2",4087,".","nonsynonymous SNV","SMAD2:NM_001135937:exon7:c.C716T:p.S239L,SMAD2:NM_001003652:exon8:c.C806T:p.S269L,SMAD2:NM_005901:exon8:c.C806T:p.S269L",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.208,"T",0.428,"B",0.198,"B",2E-3,"N",1,"D",1.445,"L",-5.16,"D",-2.24,"N",0.748,3.141,22.6,0.997,0.978,"D",0.935,"D",0.912,"D",0.732,0,5.81,0.917,0.998,0.998,1,20.091,"FamilyBased",".","ASD","WES",".","."]
[555,22542183,2,61214493,61214493,"G","C","DeNovo",".",".","2p15","exonic","USP34",9736,".","nonsynonymous SNV","USP34:NM_014709:exon68:c.C8249G:p.T2750R",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.04,"D",0.995,"D",0.979,"D",0,"D",1,"D",1.32,"L",1.46,"T",-3.71,"D",0.839,4.448,24.2,0.987,0.995,"D",-0.678,"T",0.304,"T",0.719,0,5.77,0.917,0.998,1,1,19.991,"FamilyBased",".","ASD","WES",".","."]
[557,22542183,1,53047890,53047890,"G","C","DeNovo",".",".","1p32.3","exonic","SCP2",6342,".","nonsynonymous SNV","SCP2:NM_001007099:exon4:c.G289C:p.D97H,SCP2:NM_001007100:exon4:c.G280C:p.D94H,SCP2:NM_001193599:exon14:c.G1429C:p.D477H,SCP2:NM_001193600:exon14:c.G1369C:p.D457H,SCP2:NM_001193617:exon14:c.G1258C:p.D420H,SCP2:NM_002979:exon15:c.G1501C:p.D501H","Leukoencephalopathy with dystonia and motor neuropathy, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1E-3,"D",1,"D",1,"D",0,"D",1,"D",".",".",1.86,"T",-4.92,"D",0.86,7.028,33,0.997,0.98,"D",-0.432,"T",0.386,"T",0.719,0,6.02,0.917,0.998,0.995,1,19.298,"FamilyBased",".","ASD","WES",".","."]
[558,22542183,14,64026703,64026703,"C","T","DeNovo",".",".","14q23.2","exonic","SYNE2",23224,".","nonsynonymous SNV","SYNE2:NM_015180:exon42:c.C6377T:p.T2126I,SYNE2:NM_182914:exon42:c.C6377T:p.T2126I","Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.897,"T",0.901,"P",0.534,"P",2E-3,"N",1,"D",0.46,"N",1.43,"T",-1.16,"N",0.537,3.661,23.2,0.997,0.507,"D",-1.099,"T",0.047,"T",0.707,0,4.49,0.871,0.852,0.904,0.867,10.408,"FamilyBased",".","ASD","WES",".","."]
[559,22542183,4,143876820,143876820,"C","T","DeNovo",".",".","4q31.21","exonic","GYPE",2996,".","nonsynonymous SNV","GYPE:NM_002102:exon3:c.G172A:p.V58I,GYPE:NM_198682:exon3:c.G172A:p.V58I",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"T",0.386,"B",0.198,"B",".",".",1,"N",".",".",4.1,"T",0.63,"N",0.062,-1.355,0.004,0.11,0.012,"N",-0.947,"T",0.004,"T",0.554,0,".",0.057,-0.274,0.09,2E-3,".","FamilyBased",".","ASD","WES",".","."]
[567,22542183,19,54193307,54193307,"C","T","DeNovo",".",".","19q13.42","exonic","TSEN34",79042,".","nonsynonymous SNV","TSEN34:NM_001077446:exon4:c.C878T:p.P293L,TSEN34:NM_001282332:exon5:c.C878T:p.P293L,TSEN34:NM_001282333:exon5:c.C887T:p.P296L,TSEN34:NM_024075:exon5:c.C878T:p.P293L",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.809,"T",0.999,"D",0.931,"D",0,"D",1,"D",-0.245,"N",-0.02,"T",-1.5,"N",0.61,5.93,27.6,0.992,0.954,"D",-0.769,"T",0.206,"T",0.707,0,5.33,0.598,0.892,0.987,0.711,18.17,"FamilyBased",".","ASD","WES",".","."]
[569,22542183,1,86434725,86434725,"G","C","DeNovo",".",".","1p22.3","exonic","CLCA2",9635,".","nonsynonymous SNV","CLCA2:NM_006536:exon6:c.G952C:p.V318L",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.265,"T",0.898,"P",0.472,"P",0,"D",0.957,"D",2.28,"M",2.49,"T",-1.72,"N",0.453,4.355,24.1,0.997,0.888,"D",-1.101,"T",0.027,"T",0.487,0,4.3,0.917,1.048,0.998,1,10.477,"FamilyBased",".","ASD","WES",".","."]
[570,22542183,10,12215794,12215794,"G","A","DeNovo",".",".","10p13","exonic","CDC123",8872,".","nonsynonymous SNV","CDC123:NM_006023:exon5:c.G292A:p.G98R",".",".","rs752899035",{"v":4.96e-05,"d":"4.96E-05"},{"v":9.62e-05,"d":"9.62E-05"},0,0,0,{"v":7.51e-05,"d":"7.51E-05"},0,0,".",".",".",".",".",".",0,"D",1,"D",1,"D",0,"D",1,"D",3.455,"M",".",".",-6.76,"D",0.957,6.265,29,0.999,0.987,"D",0.4,"D",0.608,"D",0.737,0,5.52,0.917,0.953,1,1,19.043,"FamilyBased",".","ASD","WES",".","."]
[572,22542183,2,178705302,178705302,"G","C","DeNovo",".",".","2q31.2","exonic","TTN",7273,".","nonsynonymous SNV","TTN:NM_133378:exon100:c.C25744G:p.L8582V,TTN:NM_001256850:exon101:c.C28525G:p.L9509V,TTN:NM_001267550:exon103:c.C29476G:p.L9826V","Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.217,"T",0.997,"D",0.991,"D",".",".",1,"D",1.915,"M",-0.48,"T",-1.71,"N",0.351,2.59,20.1,0.963,0.988,"D",0.027,"D",0.529,"D",0.554,0,5.92,0.917,1.048,1,1,20.308,"FamilyBased",".","ASD","WES",".","."]
[573,22542183,1,158942365,158942365,"G","A","DeNovo",".",".","1q23.1","exonic","PYHIN1",149628,".","nonsynonymous SNV","PYHIN1:NM_152501:exon5:c.G968A:p.G323E,PYHIN1:NM_198928:exon5:c.G941A:p.G314E,PYHIN1:NM_198929:exon5:c.G968A:p.G323E,PYHIN1:NM_198930:exon5:c.G941A:p.G314E",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",2E-3,"D",1,"D",1,"D",".",".",1,"N",2.175,"M",1.51,"T",-6.99,"D",0.645,3.859,23.5,0.99,0.054,"N",-1.083,"T",0.106,"T",0.554,0,2.85,-0.436,0.949,0,0.005,9.271,"FamilyBased",".","ASD","WES",".","."]
[574,22542183,2,178727602,178727602,"G","A","DeNovo",".",".","2q31.2","exonic","TTN",7273,".","nonsynonymous SNV","TTN:NM_133378:exon65:c.C16244T:p.T5415M,TTN:NM_001256850:exon66:c.C19025T:p.T6342M,TTN:NM_001267550:exon68:c.C19976T:p.T6659M","Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant",".","rs16866475",0.0039,0.0435,1.4E-3,0,0,{"v":9.26e-05,"d":"9.26E-05"},0.0037,{"v":9.21e-05,"d":"9.21E-05"},0.0165735,"other|Benign|Benign|Benign","not_specified|Dilated_cardiomyopathy_1G|Limb-girdle_muscular_dystrophy\\x2c_type_2J|Cardiovascular_phenotype","RCV000039934.7|RCV000230942.1|RCV000230942.1|RCV000242792.1","MedGen|MedGen:OMIM|MedGen:OMIM:Orphanet|MedGen","CN169374|C1858763:604145|C1837342:608807:ORPHA140922|CN230736",0.123,"T",1,"D",0.984,"D",".",".",1,"D",2.27,"M",-0.26,"T",-3.41,"D",0.414,2.761,21.2,0.901,0.995,"D",-0.487,"T",0.118,"T",0.554,0,5.99,0.917,0.953,0.998,0.997,20.478,"FamilyBased",".","ASD","WES",".","."]
[576,22542183,2,178542799,178542799,"C","T","DeNovo",".",".","2q31.2","exonic","TTN",7273,".","nonsynonymous SNV","TTN:NM_003319:exon176:c.G69860A:p.R23287H,TTN:NM_133432:exon177:c.G70235A:p.R23412H,TTN:NM_133437:exon177:c.G70436A:p.R23479H,TTN:NM_133378:exon297:c.G89351A:p.R29784H,TTN:NM_001256850:exon298:c.G92132A:p.R30711H,TTN:NM_001267550:exon348:c.G97055A:p.R32352H","Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant","ID=COSM129963,COSM129962;OCCURENCE=1(upper_aerodigestive_tract)","rs575939045",{"v":6.63e-05,"d":"6.63E-05"},0,0.0002,0,0,{"v":7.5e-05,"d":"7.50E-05"},0,{"v":6.06e-05,"d":"6.06E-05"},0.000399361,"Uncertain significance","not_specified","RCV000154035.3","MedGen","CN169374",0.009,"D",1,"D",0.999,"D",".",".",1,"D",2.08,"M",0.68,"T",-3.62,"D",0.339,4.579,24.4,0.974,0.988,"D",-0.469,"T",0.312,"T",0.476,0,5.67,0.871,0.935,1,0.997,19.773,"FamilyBased",".","ASD","WES",".","."]
[578,22542183,6,41743369,41743369,"G","C","DeNovo",".",".","6p21.1","exonic","PGC",5225,".","nonsynonymous SNV","PGC:NM_001166424:exon4:c.C349G:p.P117A,PGC:NM_002630:exon4:c.C349G:p.P117A",".",".","rs370140729",{"v":8.24e-06,"d":"8.24E-06"},0,0,0,0,{"v":1.5E-5,"d":"1.50E-05"},0,0,".",".",".",".",".",".",0.093,"T",0.956,"P",0.825,"P",0,"D",0.819,"D",2.04,"M",1.29,"T",-7.65,"D",0.124,1.484,13.23,0.994,0.889,"D",-0.578,"T",0.216,"T",0.487,0,3.91,0.917,1.048,0.995,0.365,11.695,"FamilyBased",".","ASD","WES",".","."]
[579,22542183,6,31972629,31972629,"C","G","DeNovo",".",".","6p21.33","exonic","STK19",8859,".","nonsynonymous SNV","STK19:NM_004197:exon3:c.C439G:p.R147G,STK19:NM_032454:exon3:c.C439G:p.R147G",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.027,"D",0.999,"D",0.994,"D",0.023,"N",0.975,"D",1.355,"L",1.74,"T",-2.47,"N",0.686,3.592,23.2,0.997,0.361,"N",-1.123,"T",0.083,"T",0.442,0,4.51,0.871,0.935,0.349,0.08,15.09,"FamilyBased",".","ASD","WES",".","."]
[580,22542183,5,131504717,131504717,"T","C","DeNovo",".",".","5q31.1","exonic","RAPGEF6",51735,".","nonsynonymous SNV","RAPGEF6:NM_001164386:exon11:c.A1163G:p.H388R,RAPGEF6:NM_001164387:exon11:c.A1163G:p.H388R,RAPGEF6:NM_001164388:exon11:c.A1163G:p.H388R,RAPGEF6:NM_001164389:exon11:c.A1163G:p.H388R,RAPGEF6:NM_001164390:exon11:c.A1163G:p.H388R,RAPGEF6:NM_016340:exon11:c.A1163G:p.H388R",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"T",0.097,"B",0.028,"B",0,"D",1,"D",-0.255,"N",1.65,"T",0.9,"N",0.528,1.955,15.93,0.865,0.989,"D",-1.065,"T",0.032,"T",0.651,0,4.93,0.991,0.913,0.999,0.998,14.578,"FamilyBased",".","ASD","WES",".","."]
[582,22542183,15,57524632,57524632,"C","A","DeNovo",".",".","15q21.3","exonic","CGNL1",84952,".","nonsynonymous SNV","CGNL1:NM_032866:exon12:c.C2920A:p.Q974K,CGNL1:NM_001252335:exon13:c.C2920A:p.Q974K",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.036,"D",1,"D",0.994,"D",0.055,"N",1,"D",2.05,"M",-1.13,"T",-3.67,"D",0.403,7.12,34,0.997,0.986,"D",0.225,"D",0.62,"D",0.732,0,5.48,0.871,0.919,0.999,0.999,19.353,"FamilyBased",".","ASD","WES",".","."]
[583,22542183,12,31460345,31460345,"G","C","DeNovo",".",".","12p11.21","exonic","DENND5B",160518,".","nonsynonymous SNV","DENND5B:NM_144973:exon4:c.C941G:p.T314S,DENND5B:NM_001308339:exon6:c.C1046G:p.T349S",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.12,"T",0.929,"P",0.614,"P",0,"D",1,"D",0.885,"L",2.77,"T",-2.7,"D",0.498,2.924,22,0.995,0.908,"D",-1.121,"T",0.036,"T",0.706,0,4.65,0.917,1.048,1,1,18.073,"FamilyBased",".","ASD","WES",".","."]
[586,22542183,13,102839736,102839736,"G","T","DeNovo",".",".","13q33.1","exonic","BIVM;BIVM-ERCC5","54841;100533467",".","nonsynonymous SNV","BIVM:NM_001159596:exon9:c.G717T:p.Q239H,BIVM-ERCC5:NM_001204425:exon9:c.G1383T:p.Q461H,BIVM:NM_017693:exon11:c.G1383T:p.Q461H",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.069,"T",0.003,"B",0.005,"B",0.006,"N",1,"D",1.1,"L",".",".",-1.62,"N",0.191,0.944,10.34,0.964,0.379,"N",-1.057,"T",0.078,"T",0.707,0,-0.376,-0.045,-0.331,0.997,0.995,4.853,"FamilyBased",".","ASD","WES",".","."]
[587,22542183,17,80347600,80347600,"C","T","DeNovo",".",".","17q25.3","exonic","RNF213",57674,".","nonsynonymous SNV","RNF213:NM_001256071:exon29:c.C9265T:p.R3089C",".",".","rs750114968",{"v":8.24e-06,"d":"8.24E-06"},0,0,0,0,{"v":1.5E-5,"d":"1.50E-05"},0,0,".",".",".",".",".",".",0,"D",1,"D",0.994,"D",0,"D",0.998,"D",2.75,"M",1.71,"T",-7.66,"D",0.883,7.016,33,0.969,0.987,"D",0.389,"D",0.615,"D",0.707,0,4.73,0.871,0.935,0.982,0.893,16.008,"FamilyBased",".","ASD","WES",".","."]
[588,22542183,16,3656675,3656675,"G","A","DeNovo",".",".","16p13.3","exonic","DNASE1",1773,".","nonsynonymous SNV","DNASE1:NM_005223:exon5:c.G358A:p.D120N",".",".","rs141801594",0.0002,0.0002,0,0,0,{"v":1.76e-05,"d":"1.76E-05"},0,0.0013,1.99681E-4,".",".",".",".",".",0.277,"T",0.395,"B",0.066,"B",0,"N",1,"D",1.505,"L",0.75,"T",-3.44,"D",0.261,2.042,16.48,0.984,0.885,"D",-1.075,"T",0.091,"T",0.672,0,3.55,0.917,0.143,0.849,0.008,9.526,"FamilyBased",".","ASD","WES",".","."]
[590,22542183,2,27222944,27222944,"T","C","DeNovo",".",".","2p23.3","exonic","CAD",790,".","nonsynonymous SNV","CAD:NM_001306079:exon6:c.T716C:p.V239A,CAD:NM_004341:exon6:c.T716C:p.V239A","Epileptic encephalopathy, early infantile, 50, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.62,"T",0.003,"B",0.008,"B",0,"D",1,"D",2.105,"M",-2.35,"D",-2.21,"N",0.511,0.24,5.098,0.493,0.882,"D",-0.148,"T",0.58,"D",0.707,0,5.04,0.991,0.913,0.755,0.638,13.007,"FamilyBased",".","ASD","WES",".","."]
[597,22542183,19,46411862,46411862,"C","T","DeNovo",".",".","19q13.32","exonic","CCDC8",83987,".","nonsynonymous SNV","CCDC8:NM_032040:exon1:c.G949A:p.G317S","3-M syndrome 3, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.444,"T",0.206,"B",0.085,"B",0.418,"N",1,"N",0.895,"L",2.86,"T",0.54,"N",0.016,0.908,10.12,0.52,0.313,"N",-1.005,"T",0.026,"T",0.767,0,4.22,-0.058,0.739,2E-3,0.003,14.902,"FamilyBased",".","ASD","WES",".","."]
[600,22542183,"X",55002264,55002264,"C","G","DeNovo",".",".","Xp11.21","exonic","APEX2",27301,".","nonsynonymous SNV","APEX2:NM_014481:exon3:c.C255G:p.F85L",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.008,"D",0.997,"D",0.97,"D",0,"D",1,"D",1.32,"L",-1.19,"T",-5.21,"D",0.587,6.493,31,0.999,0.92,"D",0.128,"D",0.538,"D",".",".",5.27,0.824,0.935,1,1,16.96,"FamilyBased",".","ASD","WES",".","."]
[602,22542183,12,48134794,48134794,"G","A","DeNovo",".",".","12q13.11","exonic","PFKM",5213,".","nonsynonymous SNV","PFKM:NM_001166688:exon7:c.G712A:p.D238N,PFKM:NM_000289:exon8:c.G712A:p.D238N,PFKM:NM_001166687:exon8:c.G712A:p.D238N,PFKM:NM_001166686:exon10:c.G925A:p.D309N","Glycogen storage disease VII, Autosomal recessive",".","rs780328814",{"v":1.65e-05,"d":"1.65E-05"},{"v":9.61e-05,"d":"9.61E-05"},0,0,0,{"v":1.5E-5,"d":"1.50E-05"},0,0,".",".",".",".",".",".",0.494,"T",0.121,"B",0.026,"B",0,"D",0.995,"D",0.995,"L",-1.31,"T",0.35,"N",0.103,3.335,22.9,0.997,0.978,"D",-0.61,"T",0.333,"T",0.707,0,3.61,0.917,1.048,0.979,1,9.076,"FamilyBased",".","ASD","WES",".","."]
[603,22542183,2,203402659,203402659,"C","T","DeNovo",".",".","2q33.2","exonic","ABI2",10152,".","nonsynonymous SNV","ABI2:NM_001282927:exon7:c.C781T:p.R261C,ABI2:NM_005759:exon7:c.C916T:p.R306C,ABI2:NM_001282926:exon8:c.C1099T:p.R367C,ABI2:NM_001282932:exon8:c.C748T:p.R250C,ABI2:NM_001282925:exon9:c.C1117T:p.R373C",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.099,"T",1,"D",1,"D",0,"D",1,"D",2.095,"M",1.27,"T",-3.85,"D",0.845,8.077,35,0.999,0.948,"D",-0.464,"T",0.311,"T",0.732,0,5.6,0.871,0.935,0.999,0.998,19.625,"FamilyBased",".","ASD","WES",".","."]
[604,22542183,1,47068623,47068623,"T","C","DeNovo",".",".","1p33","exonic","CYP4Z1",199974,".","nonsynonymous SNV","CYP4Z1:NM_178134:exon2:c.T179C:p.F60S",".",".","rs753212900",{"v":8.31e-06,"d":"8.31E-06"},0,0,0,0,{"v":1.51e-05,"d":"1.51E-05"},0,0,".",".",".",".",".",".",0.107,"T",0.994,"D",0.879,"P",0.715,"U",1,"D",2.145,"M",-0.28,"T",-1.94,"N",0.57,2.669,20.6,0.993,0.267,"N",-0.555,"T",0.356,"T",0.487,0,1.85,-0.014,-0.092,0.053,0.016,5.657,"FamilyBased",".","ASD","WES",".","."]
[606,22542183,3,129095138,129095138,"C","T","DeNovo",".",".","3q21.3","exonic","ISY1-RAB43;RAB43","100534599;339122",".","nonsynonymous SNV","RAB43:NM_001204887:exon2:c.G236A:p.R79Q,RAB43:NM_198490:exon2:c.G236A:p.R79Q,RAB43:NM_001204883:exon3:c.G236A:p.R79Q,RAB43:NM_001204884:exon3:c.G236A:p.R79Q,RAB43:NM_001204885:exon3:c.G236A:p.R79Q,RAB43:NM_001204886:exon3:c.G236A:p.R79Q,ISY1-RAB43:NM_001204890:exon12:c.G883A:p.G295S",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",0.982,"D",".",".",1,"D",".",".",-1.17,"T",-3.9,"D",0.743,7.302,34,0.999,0.995,"D",0.577,"D",0.617,"D",0.707,0,4.55,0.871,0.807,0.998,0.977,14.822,"FamilyBased",".","ASD","WES",".","."]
[607,22542183,1,81969284,81969284,"G","A","DeNovo",".",".","1p31.1","exonic","ADGRL2",23266,".","nonsynonymous SNV","ADGRL2:NM_001297705:exon13:c.G2579A:p.R860H,ADGRL2:NM_001297706:exon13:c.G2579A:p.R860H,ADGRL2:NM_001350699:exon13:c.G2579A:p.R860H,ADGRL2:NM_012302:exon13:c.G2579A:p.R860H,ADGRL2:NM_001297704:exon14:c.G2579A:p.R860H,ADGRL2:NM_001330645:exon14:c.G2618A:p.R873H,ADGRL2:NM_001350698:exon15:c.G2630A:p.R877H",".",".","rs576674053",{"v":8.24e-05,"d":"8.24E-05"},0,0,0,0.0002,1E-4,0,0,".",".",".",".",".",".",0.004,"D",1,"D",0.993,"D",0,"D",1,"D",2.95,"M",0.32,"T",-4.17,"D",0.925,7.679,35,0.999,0.99,"D",0.069,"D",0.491,"T",0.707,0,5.24,0.917,0.902,0.987,0.957,18.81,"FamilyBased",".","ASD","WES",".","."]
[609,22542183,7,48403841,48403841,"G","A","DeNovo",".",".","7p12.3","exonic","ABCA13",154664,".","nonsynonymous SNV","ABCA13:NM_152701:exon39:c.G12032A:p.R4011Q",".","ID=COSM238626,COSM238625;OCCURENCE=1(prostate)","rs775789318",{"v":6.06e-05,"d":"6.06E-05"},0,0,0,0,{"v":4.67e-05,"d":"4.67E-05"},0,0.0003,".",".",".",".",".",".",1E-3,"D",1,"D",0.999,"D",0,"D",1,"D",2.285,"M",-4.3,"D",-3.7,"D",0.911,7.068,33,0.999,0.986,"D",1.077,"D",0.947,"D",0.487,0,6.17,0.917,1.048,0.363,0.314,19.868,"FamilyBased",".","ASD","WES",".","."]
[610,22542183,11,418794,418794,"G","T","DeNovo",".",".","11p15.5","exonic","ANO9",338440,".","nonsynonymous SNV","ANO9:NM_001347882:exon21:c.C1624A:p.P542T,ANO9:NM_001012302:exon22:c.C2056A:p.P686T",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.03,"D",0.016,"B",0.016,"B",0.325,"N",1,"N",2.035,"M",-0.34,"T",-3.44,"D",0.223,1.261,12.07,0.924,0.026,"N",-0.857,"T",0.245,"T",0.635,0,-0.415,-0.043,-0.487,0.003,1E-3,3.694,"FamilyBased",".","ASD","WES",".","."]
[612,22542183,"X",131274095,131274095,"C","A","DeNovo",".",".","Xq26.1","exonic","IGSF1",3547,".","nonsynonymous SNV","IGSF1:NM_001170962:exon18:c.G3836T:p.R1279L,IGSF1:NM_001170961:exon19:c.G3878T:p.R1293L,IGSF1:NM_001555:exon19:c.G3863T:p.R1288L","Hypothyroidism, central, and testicular enlargement, X-linked recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.015,"D",0.995,"D",0.968,"D",0.03,"N",0.802,"D",1.65,"L",5.24,"T",-1.86,"N",0.622,6.944,33,0.995,0.817,"D",-0.97,"T",0.01,"T",".",".",2.72,0.871,0.892,0.754,1,6.142,"FamilyBased",".","ASD","WES",".","."]
[613,22542183,"X",53194278,53194278,"T","A","DeNovo",".",".","Xp11.22","exonic","KDM5C",8242,".","nonsynonymous SNV","KDM5C:NM_001146702:exon21:c.A3698T:p.D1233V,KDM5C:NM_001282622:exon23:c.A3896T:p.D1299V,KDM5C:NM_004187:exon23:c.A3899T:p.D1300V","Mental retardation, X-linked, syndromic, Claes-Jensen type, X-linked recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.004,"D",0.952,"P",0.642,"P",0,"D",0.999,"D",2.045,"M",5.45,"T",-4.19,"D",0.482,2.882,21.8,0.992,0.925,"D",-0.842,"T",0.008,"T",".",".",4.58,0.987,1.059,0.975,0.997,11.074,"FamilyBased",".","ASD","WES",".","."]
[615,22542183,19,43873822,43873822,"T","C","DeNovo",".",".","19q13.31","exonic","ZNF404",342908,".","nonsynonymous SNV","ZNF404:NM_001033719:exon2:c.A383G:p.Y128C",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.553,"P",0.299,"B",".",".",1,"N",1.925,"M",2.07,"T",".",".",0.38,0.043,3.011,0.616,0.113,"N",-1.024,"T",0.049,"T",0.638,0,-0.632,0.755,0.575,0.364,0.556,3.043,"FamilyBased",".","ASD","WES",".","."]
[619,22542183,5,251020,251020,"G","A","DeNovo",".",".","5p15.33","exonic","SDHA",6389,".","nonsynonymous SNV","SDHA:NM_001294332:exon11:c.G1436A:p.R479H,SDHA:NM_004168:exon12:c.G1580A:p.R527H","Cardiomyopathy, dilated, 1GG;Leigh syndrome, Autosomal recessive, Mitochondrial;Mitochondrial respiratory chain complex II deficiency, Autosomal recessive;Paragangliomas 5, Autosomal dominant",".","rs766352407",{"v":3.3e-05,"d":"3.30E-05"},0,0.0002,1E-4,0,0,0,{"v":6.06e-05,"d":"6.06E-05"},".","Uncertain significance|Uncertain significance|Uncertain significance","Mitochondrial_complex_II_deficiency|Pheochromocytoma|Leigh_syndrome","RCV000287976.1|RCV000352061.1|RCV000396802.1","MedGen:OMIM:Orphanet|MedGen:OMIM|MedGen:OMIM:Orphanet:SNOMED_CT","C1855008:252011:ORPHA3208|C0031511:171300|C0023264:256000:ORPHA506:29570005",0,"D",1,"D",0.999,"D",0,"U",1,"D",4.445,"H",-3.2,"D",-4.44,"D",0.906,6.857,33,0.999,0.976,"D",1.07,"D",0.937,"D",0.732,0,3.69,0.917,0.982,1,1,13.282,"FamilyBased",".","ASD","WES",".","."]
[621,22542183,10,38054491,38054491,"G","A","DeNovo",".",".","10p11.1","exonic","ZNF33A",7581,".","nonsynonymous SNV","ZNF33A:NM_001278170:exon4:c.G385A:p.G129R,ZNF33A:NM_001324178:exon4:c.G388A:p.G130R,ZNF33A:NM_001278177:exon5:c.G430A:p.G144R,ZNF33A:NM_001278178:exon5:c.G31A:p.G11R,ZNF33A:NM_001324176:exon5:c.G31A:p.G11R,ZNF33A:NM_006954:exon5:c.G367A:p.G123R,ZNF33A:NM_006974:exon5:c.G364A:p.G122R,ZNF33A:NM_001278171:exon6:c.G31A:p.G11R,ZNF33A:NM_001278173:exon6:c.G421A:p.G141R,ZNF33A:NM_001278174:exon6:c.G31A:p.G11R,ZNF33A:NM_001278175:exon6:c.G133A:p.G45R,ZNF33A:NM_001278176:exon6:c.G238A:p.G80R,ZNF33A:NM_001278179:exon6:c.G31A:p.G11R,ZNF33A:NM_001324175:exon6:c.G31A:p.G11R,ZNF33A:NM_001324177:exon6:c.G31A:p.G11R",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.152,"T",0.997,"D",0.9,"P",0.233,"N",1,"N",0.525,"N",5.84,"T",-2.61,"D",0.135,0.367,6.324,0.687,0.128,"N",-0.995,"T",0.019,"T",0.707,0,0.747,0.562,0.502,0.022,0.443,3.999,"FamilyBased",".","ASD","WES",".","."]
[622,22542183,16,74623986,74623986,"C","T","DeNovo",".",".","16q23.1","exonic","RFWD3",55159,".","nonsynonymous SNV","RFWD3:NM_018124:exon13:c.G2267A:p.R756H",".","ID=COSM1195430;OCCURENCE=1(lung)","rs376027907",{"v":4.12e-05,"d":"4.12E-05"},0,0,0.0002,0,{"v":3e-05,"d":"3.00E-05"},0,{"v":6.06e-05,"d":"6.06E-05"},".",".",".",".",".",".",0.433,"T",0,"B",0,"B",0.011,"N",1,"N",-1.61,"N",2.26,"T",0.11,"N",0.073,3.649,23.2,0.862,0.37,"N",-0.98,"T",0.012,"T",0.707,0,4.67,0.084,-0.667,0.751,0.171,9.136,"FamilyBased",".","ASD","WES",".","."]
[623,22542183,2,96024463,96024463,"C","T","DeNovo",".",".","2q11.2","exonic","GPAT2",150763,".","nonsynonymous SNV","GPAT2:NM_001321529:exon14:c.G1438A:p.E480K,GPAT2:NM_001321530:exon14:c.G1420A:p.E474K,GPAT2:NM_001321525:exon15:c.G1651A:p.E551K,GPAT2:NM_001321526:exon15:c.G1651A:p.E551K,GPAT2:NM_001321527:exon15:c.G1651A:p.E551K,GPAT2:NM_001321528:exon15:c.G1651A:p.E551K,GPAT2:NM_207328:exon15:c.G1633A:p.E545K,GPAT2:NM_001321531:exon16:c.G1633A:p.E545K",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.209,"T",0.891,"P",0.487,"P",0.216,"N",0.996,"N",1.39,"L",-0.03,"T",-0.81,"N",0.429,3.533,23.1,0.992,0.456,"N",-0.759,"T",0.319,"T",0.422,0,3.91,0.853,0.824,0.066,0.895,10.875,"FamilyBased",".","ASD","WES",".","."]
[625,22542183,5,37177625,37177625,"T","C","DeNovo",".",".","5p13.2","exonic","C5orf42",65250,".","nonsynonymous SNV","C5orf42:NM_023073:exon30:c.A5896G:p.K1966E","Joubert syndrome 17, Autosomal recessive;Orofaciodigital syndrome VI, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.109,"T",0.008,"B",0.011,"B",0.933,"N",0.707,"N",1.355,"L",1.69,"T",-1.4,"N",0.148,2.461,19.22,0.994,0.252,"N",-0.988,"T",0.064,"T",0.651,0,1.42,0.991,0.964,0.947,0.914,6.145,"FamilyBased",".","ASD","WES",".","."]
[628,22542183,10,17157485,17157485,"G","T","DeNovo",".",".","10p13","exonic","TRDMT1",1787,".","nonsynonymous SNV","TRDMT1:NM_001321006:exon6:c.C600A:p.D200E,TRDMT1:NM_001351221:exon6:c.C705A:p.D235E,TRDMT1:NM_001351219:exon8:c.C843A:p.D281E,TRDMT1:NM_001351220:exon8:c.C843A:p.D281E,TRDMT1:NM_004412:exon8:c.C843A:p.D281E,TRDMT1:NM_001321007:exon9:c.C630A:p.D210E,TRDMT1:NM_001351222:exon9:c.C630A:p.D210E,TRDMT1:NM_001351223:exon9:c.C630A:p.D210E",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.003,"D",1,"D",0.998,"D",0,"D",1,"D",2.755,"M",0.88,"T",-3.15,"D",0.646,4,23.6,0.995,0.92,"D",-0.432,"T",0.349,"T",0.706,0,-1.83,-0.029,-0.285,0.877,0.506,11.035,"FamilyBased",".","ASD","WES",".","."]
[630,22542183,3,14932677,14932677,"A","C","DeNovo",".",".","3p25.1","exonic","FGD5",152273,".","nonsynonymous SNV","FGD5:NM_001320276:exon18:c.A4169C:p.H1390P,FGD5:NM_152536:exon19:c.A4298C:p.H1433P",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1E-3,"D",1,"D",0.999,"D",0,"D",1,"D",2.67,"M",2.68,"T",-8.43,"D",0.87,5.773,27,0.984,0.995,"D",-0.932,"T",0.12,"T",0.706,0,5.7,1.062,1.14,0.999,1,16.003,"FamilyBased",".","ASD","WES",".","."]
[633,22542183,12,6770191,6770191,"C","T","DeNovo",".",".","12p13.31","exonic","PTMS",5763,".","nonsynonymous SNV","PTMS:NM_001330333:exon4:c.C308T:p.P103L",".",".","rs375055205",{"v":1.65e-05,"d":"1.65E-05"},0.0002,0,0,0,0,0,0,".",".",".",".",".",".",".",".",".",".",".",".",0.018,"N",1,"D",".",".",".",".",-5.64,"D",".",2.255,17.87,0.854,0.147,"N",-0.805,"T",0.213,"T",0.706,0,0.09,0.598,0.738,0.987,0.996,5.566,"FamilyBased",".","ASD","WES",".","."]
[635,22542183,18,14542950,14542950,"T","C","DeNovo",".",".","18p11.21","exonic","POTEC",388468,".","nonsynonymous SNV","POTEC:NM_001137671:exon1:c.A197G:p.H66R",".",".","rs9807555",0.176,0.1844,0.263,0.3605,0.1686,0.1224,0.1864,0.2336,".",".",".",".",".",".",1,"T",1E-3,"B",1E-3,"B",".",".",1,"N",0.205,"N",1.82,"T",-0.09,"N",0.052,-3.602,1E-3,0.111,0,"N",-1.003,"T",0.026,"T",0.487,0,-0.857,-0.267,-2.44,0.061,0.004,".","FamilyBased",".","ASD","WES",".","."]
[636,22542183,20,32433388,32433388,"G","A","DeNovo",".",".","20q11.21","exonic","ASXL1",171023,".","nonsynonymous SNV","ASXL1:NM_015338:exon11:c.G1190A:p.R397H","Bohring-Opitz syndrome, Autosomal dominant;Myelodysplastic syndrome, somatic",".","rs757102293",{"v":8.24e-06,"d":"8.24E-06"},0,0,0,0,{"v":1.5E-5,"d":"1.50E-05"},0,0,".",".",".",".",".",".",2E-3,"D",1,"D",0.984,"D",0,"D",1,"D",2.075,"M",2.22,"T",-2.42,"N",0.415,3.459,23,0.999,0.949,"D",-1.085,"T",0.102,"T",0.731,0,4.49,0.917,0.953,0.915,0.926,13.481,"FamilyBased",".","ASD","WES",".","."]
[637,22542183,7,24866176,24866176,"C","T","DeNovo",".",".","7p15.3","exonic","OSBPL3",26031,".","nonsynonymous SNV","OSBPL3:NM_145320:exon5:c.G443A:p.R148H,OSBPL3:NM_145321:exon5:c.G443A:p.R148H,OSBPL3:NM_145322:exon5:c.G443A:p.R148H,OSBPL3:NM_015550:exon6:c.G443A:p.R148H",".",".","rs201132926",0.0002,0.0003,0.0003,0,0.0002,0.0002,0,{"v":6.06e-05,"d":"6.06E-05"},0.000399361,".",".",".",".",".",0.051,"T",1,"D",1,"D",0,"D",1,"D",2.42,"M",1.89,"T",-3.57,"D",0.765,8.127,35,1,0.992,"D",-0.355,"T",0.379,"T",0.745,0,5.63,0.871,0.935,1,0.999,20.05,"FamilyBased",".","ASD","WES",".","."]
[639,22542183,11,74037663,74037663,"T","C","DeNovo",".",".","11q13.4","exonic","C2CD3",26005,".","nonsynonymous SNV","C2CD3:NM_001286577:exon30:c.A5696G:p.Y1899C,C2CD3:NM_015531:exon30:c.A5696G:p.Y1899C",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.018,"D",1,"D",0.979,"D",0,"D",0.994,"D",2.32,"M",2.55,"T",-4.07,"D",0.843,5.552,26.4,0.998,0.95,"D",-0.935,"T",0.144,"T",0.707,0,5.96,0.991,1.061,0.998,0.955,16.11,"FamilyBased",".","ASD","WES",".","."]
[644,22542183,6,34036305,34036305,"G","A","DeNovo",".",".","6p21.31","exonic","GRM4",2914,".","nonsynonymous SNV","GRM4:NM_001256809:exon7:c.C1457T:p.T486M,GRM4:NM_001256811:exon8:c.C1664T:p.T555M,GRM4:NM_001256812:exon8:c.C1298T:p.T433M,GRM4:NM_001282847:exon8:c.C881T:p.T294M,GRM4:NM_000841:exon9:c.C1805T:p.T602M,GRM4:NM_001256813:exon9:c.C1406T:p.T469M",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",0.999,"D",0,"D",1,"D",3.36,"M",-2.68,"D",-5.42,"D",0.887,5.761,27,0.999,0.989,"D",0.977,"D",0.878,"D",0.696,0,4.81,0.917,0.943,0.987,0.822,17.67,"FamilyBased",".","ASD","WES",".","."]
[651,22542183,11,800598,800598,"C","T","DeNovo",".",".","11p15.5","exonic","PIDD1",55367,".","nonsynonymous SNV","PIDD1:NM_145886:exon12:c.G1986A:p.M662I,PIDD1:NM_145887:exon12:c.G1986A:p.M662I",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.366,"T",0.061,"B",0.012,"B",0.026,"N",0.68,"N",0.345,"N",1.2,"T",-1.01,"N",0.185,1.706,14.44,0.961,0.92,"D",-1.054,"T",0.053,"T",0.672,0,1.64,-0.064,0.739,0.996,0.995,7.539,"FamilyBased",".","ASD","WES",".","."]
[652,22542183,4,118815469,118815469,"C","T","DeNovo",".",".","4q26","exonic","SEC24D",9871,".","nonsynonymous SNV","SEC24D:NM_001318066:exon5:c.G655A:p.G219R,SEC24D:NM_014822:exon5:c.G655A:p.G219R","Cole-Carpenter syndrome 2, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.015,"D",1,"D",1,"D",0,"D",1,"D",2.505,"M",1.86,"T",-4.2,"D",0.789,6.292,29.1,0.987,0.946,"D",-0.853,"T",0.184,"T",0.707,0,5.71,0.871,0.935,0.894,0.218,16.774,"FamilyBased",".","ASD","WES",".","."]
[653,22542183,5,167952804,167952804,"A","G","DeNovo",".",".","5q34","exonic","TENM2",57451,".","nonsynonymous SNV","TENM2:NM_001080428:exon2:c.A356G:p.N119S,TENM2:NM_001122679:exon4:c.A929G:p.N310S",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.035,"D",0.247,"B",0.302,"B",0,"D",1,"D",1.67,"L",1.09,"T",-2.32,"N",0.124,2.459,19.21,0.989,0.957,"D",-0.882,"T",0.147,"T",0.554,0,5.34,1.062,1.199,0.999,0.998,15.31,"FamilyBased",".","ASD","WES",".","."]
[659,22542183,11,28058946,28058946,"G","A","DeNovo",".",".","11p14.1","exonic","KIF18A",81930,".","nonsynonymous SNV","KIF18A:NM_031217:exon13:c.C1928T:p.P643L",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.016,"D",0.704,"P",0.138,"B",0.031,"N",1,"N",1.935,"M",-0.59,"T",-2.43,"N",0.236,1.553,13.59,0.987,0.211,"N",-0.711,"T",0.235,"T",0.732,0,4.17,0.917,0.998,0.996,0.966,8.276,"FamilyBased",".","ASD","WES",".","."]
[660,22542183,1,246758329,246758329,"C","T","DeNovo",".",".","1q44","exonic","SCCPDH",51097,".","nonsynonymous SNV","SCCPDH:NM_016002:exon6:c.C668T:p.P223L",".",".","rs759869678",{"v":2.49e-05,"d":"2.49E-05"},0,0,1E-4,0,{"v":1.51e-05,"d":"1.51E-05"},0,{"v":6.08e-05,"d":"6.08E-05"},".",".",".",".",".",".",0.013,"D",0.835,"P",0.382,"B",0,"D",1,"D",2.825,"M",0.93,"T",-8.83,"D",0.579,4.515,24.3,0.995,0.952,"D",-0.649,"T",0.198,"T",0.732,0,5.92,0.871,0.935,0.762,0.072,19.937,"FamilyBased",".","ASD","WES",".","."]
[661,22542183,2,73454005,73454005,"T","G","DeNovo",".",".","2p13.1","exonic","ALMS1",7840,".","nonsynonymous SNV","ALMS1:NM_015120:exon8:c.T7478G:p.L2493R","Alstrom syndrome, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",0.999,"D",1E-3,"N",0.668,"N",1.525,"L",".",".",".",".",0.878,5.824,27.2,0.998,0.224,"N",-1.006,"T",0.079,"T",0.732,0,3.35,0.991,1.061,0.836,0.974,10.197,"FamilyBased",".","ASD","WES",".","."]
[662,22542183,7,55160165,55160165,"G","C","DeNovo",".",".","7p11.2","exonic","EGFR",1956,".","nonsynonymous SNV","EGFR:NM_001346941:exon6:c.G524C:p.S175T,EGFR:NM_001346897:exon11:c.G1190C:p.S397T,EGFR:NM_001346899:exon11:c.G1190C:p.S397T,EGFR:NM_001346898:exon12:c.G1325C:p.S442T,EGFR:NM_001346900:exon12:c.G1166C:p.S389T,EGFR:NM_005228:exon12:c.G1325C:p.S442T,EGFR:NM_201282:exon12:c.G1325C:p.S442T,EGFR:NM_201284:exon12:c.G1325C:p.S442T","Adenocarcinoma of lung, response to tyrosine kinase inhibitor in, Autosomal recessive;Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.517,"T",0.057,"B",0.046,"B",0.026,"N",1,"N",0.875,"L",0.84,"T",-1.07,"N",0.063,1.396,12.77,0.903,0.485,"N",-1.074,"T",0.076,"T",0.653,0,4,0.069,1.048,0.706,0.895,6.777,"FamilyBased",".","ASD","WES",".","."]
[665,22542183,21,40296108,40296108,"T","C","DeNovo",".",".","21q22.2","exonic","DSCAM",1826,".","nonsynonymous SNV","DSCAM:NM_001271534:exon10:c.A2129G:p.N710S,DSCAM:NM_001389:exon10:c.A2129G:p.N710S",".",".","rs747593717",{"v":8.29e-06,"d":"8.29E-06"},0,0,0,0,{"v":1.5E-5,"d":"1.50E-05"},0,0,".",".",".",".",".",".",0.044,"D",0.63,"P",0.389,"B",0,"D",1,"D",-0.44,"N",-0.23,"T",-2.62,"D",0.165,3.905,23.5,0.999,0.952,"D",-0.852,"T",0.143,"T",0.487,0,5.3,0.991,1.061,1,0.995,14.523,"FamilyBased",".","ASD","WES",".","."]
[666,22542183,21,18352920,18352920,"G","C","DeNovo",".",".","21q21.1","exonic","TMPRSS15",5651,".","nonsynonymous SNV","TMPRSS15:NM_002772:exon10:c.C1154G:p.T385S","Enterokinase deficiency, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",1,"D",0,"D",1,"D",2.41,"M",4.14,"T",-2.18,"N",0.542,5.965,27.7,0.997,0.992,"D",-1.195,"T",0.039,"T",0.487,0,5.21,0.917,1.048,0.358,0.992,18.111,"FamilyBased",".","ASD","WES",".","."]
[667,22542183,21,18352911,18352911,"T","C","DeNovo",".",".","21q21.1","exonic","TMPRSS15",5651,".","nonsynonymous SNV","TMPRSS15:NM_002772:exon10:c.A1163G:p.N388S","Enterokinase deficiency, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",1,"D",0,"D",1,"D",1.42,"L",4.47,"T",-2.9,"D",0.138,5.147,25.4,0.999,0.986,"D",-0.971,"T",0.02,"T",0.487,0,5.21,0.991,1.061,0.097,0.926,14.559,"FamilyBased",".","ASD","WES",".","."]
[668,22542183,2,38569255,38569255,"T","C","DeNovo",".",".","2p22.1","exonic","HNRNPLL",92906,".","nonsynonymous SNV","HNRNPLL:NM_138394:exon10:c.A1294G:p.M432V,HNRNPLL:NM_001142650:exon11:c.A1279G:p.M427V",".",".","rs528598711",{"v":1.65e-05,"d":"1.65E-05"},{"v":9.64e-05,"d":"9.64E-05"},0,0,0,{"v":1.5E-5,"d":"1.50E-05"},0,0,1.99681E-4,".",".",".",".",".",0.237,"T",0.077,"B",0.013,"B",0,"D",0.933,"D",1.245,"L",".",".",-0.59,"N",0.435,1.596,13.83,0.951,0.919,"D",-0.792,"T",0.224,"T",0.707,0,5.32,0.991,1.011,1,1,15.572,"FamilyBased",".","ASD","WES",".","."]
[672,22542183,4,69495523,69495523,"T","G","DeNovo",".",".","4q13.3","exonic","UGT2B4",7363,".","nonsynonymous SNV","UGT2B4:NM_001297615:exon1:c.A339C:p.Q113H,UGT2B4:NM_021139:exon1:c.A339C:p.Q113H",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.178,"T",0.536,"P",0.398,"B",0.024,"U",1,"N",1.57,"L",0.14,"T",-3.44,"D",0.2,1.323,12.39,0.721,0.066,"N",-1.011,"T",0.141,"T",0.487,0,1.08,0.991,-0.368,0.02,0,2.935,"FamilyBased",".","ASD","WES",".","."]
[673,22542183,1,179635808,179635808,"A","G","DeNovo",".",".","1q25.2","exonic","TDRD5",163589,".","nonsynonymous SNV","TDRD5:NM_001199092:exon6:c.A106G:p.I36V,TDRD5:NM_001199085:exon9:c.A1441G:p.I481V,TDRD5:NM_001199089:exon9:c.A1441G:p.I481V,TDRD5:NM_001199091:exon9:c.A1441G:p.I481V,TDRD5:NM_001349923:exon9:c.A1441G:p.I481V,TDRD5:NM_173533:exon9:c.A1441G:p.I481V",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.855,"T",0.073,"B",0.083,"B",0.007,"N",0.996,"N",-0.19,"N",3.05,"T",0.15,"N",0.116,0.572,7.958,0.595,0.409,"N",-0.942,"T",0.01,"T",0.487,0,3.89,1.062,1.136,0.996,1,4.199,"FamilyBased",".","ASD","WES",".","."]
[674,22542183,16,57967237,57967237,"C","T","DeNovo",".",".","16q21","exonic","CNGB1",1258,".","nonsynonymous SNV","CNGB1:NM_001135639:exon2:c.G50A:p.R17Q,CNGB1:NM_001286130:exon2:c.G50A:p.R17Q,CNGB1:NM_001297:exon2:c.G50A:p.R17Q","Retinitis pigmentosa 45, Autosomal recessive",".","rs768575862",{"v":3.32e-05,"d":"3.32E-05"},0.0003,0,0,0,{"v":1.5E-5,"d":"1.50E-05"},0,0,".",".",".",".",".",".",1,"T",0.01,"B",2E-3,"B",0.701,"N",1,"N",-0.205,"N",1.3,"T",1.04,"N",0.151,0.418,6.771,0.318,0.053,"N",-0.488,"T",0.468,"T",0.497,0,1.44,0.021,0.119,0.958,0.95,1.81,"FamilyBased",".","ASD","WES",".","."]
[675,22542183,15,40900757,40900757,"C","T","DeNovo",".",".","15q15.1","exonic","VPS18",57617,".","nonsynonymous SNV","VPS18:NM_020857:exon4:c.C1939T:p.R647C",".",".","rs147820290",{"v":3.3e-05,"d":"3.30E-05"},{"v":9.62e-05,"d":"9.62E-05"},0,0,0,{"v":4.5e-05,"d":"4.50E-05"},0,0,".",".",".",".",".",".",0,"D",1,"D",0.993,"D",0,"D",1,"D",3.23,"M",2.13,"T",-6.65,"D",0.713,6.604,31,0.999,0.886,"D",-0.686,"T",0.186,"T",0.707,0,5.84,0.871,0.066,1,0.996,14.018,"FamilyBased",".","ASD","WES",".","."]
[676,22542183,10,17704510,17704510,"A","T","DeNovo",".",".","10p12.33","exonic","STAM",8027,".","nonsynonymous SNV","STAM:NM_001324286:exon7:c.A701T:p.H234L,STAM:NM_001324287:exon8:c.A659T:p.H220L,STAM:NM_001324282:exon9:c.A896T:p.H299L,STAM:NM_001324283:exon9:c.A842T:p.H281L,STAM:NM_001324289:exon10:c.A608T:p.H203L,STAM:NM_003473:exon10:c.A992T:p.H331L,STAM:NM_001324284:exon11:c.A842T:p.H281L,STAM:NM_001324285:exon11:c.A842T:p.H281L,STAM:NM_001324288:exon11:c.A608T:p.H203L",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.21,"T",0.651,"P",0.115,"B",0,"D",1,"D",1.61,"L",1.41,"T",-2.91,"D",0.489,3.255,22.8,0.97,0.996,"D",-1.044,"T",0.095,"T",0.732,0,5.91,1.062,1.14,0.997,1,16.343,"FamilyBased",".","ASD","WES",".","."]
[677,22542183,19,10143955,10143955,"C","T","DeNovo",".",".","19p13.2","exonic","DNMT1",1786,".","nonsynonymous SNV","DNMT1:NM_001318730:exon28:c.G2879A:p.R960Q,DNMT1:NM_001379:exon28:c.G2879A:p.R960Q,DNMT1:NM_001130823:exon29:c.G2927A:p.R976Q,DNMT1:NM_001318731:exon29:c.G2564A:p.R855Q","Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, Autosomal dominant;Neuropathy, hereditary sensory, type IE, Autosomal dominant",".","rs750276897",{"v":8.24e-06,"d":"8.24E-06"},0,0,0,0,{"v":1.5E-5,"d":"1.50E-05"},0,0,".",".",".",".",".",".",0.075,"T",0.942,"P",0.42,"B",0,"D",0.963,"N",1.845,"L",1.95,"T",-1.25,"N",0.235,4.378,24.1,0.999,0.424,"N",-1.04,"T",0.041,"T",0.707,0,-2.77,-0.379,0.075,0.107,0.981,6.05,"FamilyBased",".","ASD","WES",".","."]
[678,22542183,3,9447908,9447908,"G","A","DeNovo",".",".","3p25.3","exonic","SETD5",55209,".","nonsynonymous SNV","SETD5:NM_001080517:exon15:c.G2005A:p.G669R,SETD5:NM_001292043:exon17:c.G1711A:p.G571R,SETD5:NM_001349451:exon18:c.G1711A:p.G571R","Mental retardation, autosomal dominant 23, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.004,"D",1,"D",1,"D",0,"D",1,"D",1.59,"L",-2.65,"D",-1.35,"N",0.493,4.397,24.1,0.999,0.984,"D",-0.593,"T",0.331,"T",0.707,0,5.69,0.917,1.048,1,0.984,19.82,"FamilyBased",".","ASD","WES",".","."]
[679,22542183,12,54257590,54257590,"C","T","DeNovo",".",".","12q13.13","exonic","CBX5",23468,".","nonsynonymous SNV","CBX5:NM_001127321:exon2:c.G61A:p.V21I,CBX5:NM_001127322:exon2:c.G61A:p.V21I,CBX5:NM_012117:exon2:c.G61A:p.V21I",".",".","rs746011941",{"v":8.24e-06,"d":"8.24E-06"},0,0,0,0,{"v":1.5E-5,"d":"1.50E-05"},0,0,".",".",".",".",".",".",0.242,"T",0.756,"P",0.893,"P",0,"D",1,"D",1.3,"L",-0.56,"T",-0.65,"N",0.569,5.316,25.8,0.998,0.983,"D",-0.396,"T",0.426,"T",0.707,0,5.65,0.871,0.935,0.99,0.945,17.263,"FamilyBased",".","ASD","WES",".","."]
[680,22542183,16,57698092,57698092,"C","T","DeNovo",".",".","16q21","exonic","DRC7",84229,".","nonsynonymous SNV","DRC7:NM_001289163:exon2:c.C143T:p.T48M,DRC7:NM_032269:exon2:c.C143T:p.T48M,DRC7:NM_001289162:exon3:c.C143T:p.T48M",".","ID=COSM3421051;OCCURENCE=1(large_intestine)","rs151301678",{"v":9.89e-05,"d":"9.89E-05"},0.0003,{"v":8.65e-05,"d":"8.65E-05"},0,0.0002,{"v":4.5e-05,"d":"4.50E-05"},0,0.0002,1.99681E-4,".",".",".",".",".",0.239,"T",0.007,"B",0.004,"B",0.029,"N",1,"N",-0.205,"N",3.1,"T",-0.49,"N",0.072,1E-3,2.6,0.751,0.006,"N",-0.984,"T",0.013,"T",0.554,0,-5.97,-1.224,-1.982,0.046,0.009,5.975,"FamilyBased",".","ASD","WES",".","."]
[682,22542183,7,143936001,143936001,"T","C","DeNovo",".",".","7q35","exonic","OR2F2",135948,".","nonsynonymous SNV","OR2F2:NM_001004685:exon1:c.T769C:p.F257L",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.003,"D",0.94,"P",0.869,"P",0.02,"N",1,"N",1.725,"L",8.46,"T",-4.88,"D",0.324,2.029,16.39,0.995,0.276,"N",-0.886,"T",1E-3,"T",0.487,0,3.4,0.991,1.011,0.992,0.715,10.109,"FamilyBased",".","ASD","WES",".","."]
[684,22542183,9,95467382,95467382,"A","T","DeNovo",".",".","9q22.32","exonic","PTCH1",5727,".","nonsynonymous SNV","PTCH1:NM_000264:exon15:c.T2294A:p.L765H,PTCH1:NM_001083602:exon15:c.T2096A:p.L699H,PTCH1:NM_001083603:exon15:c.T2291A:p.L764H,PTCH1:NM_001083604:exon15:c.T1841A:p.L614H,PTCH1:NM_001083605:exon15:c.T1841A:p.L614H,PTCH1:NM_001083606:exon15:c.T1841A:p.L614H,PTCH1:NM_001083607:exon15:c.T1841A:p.L614H","Basal cell carcinoma, somatic;Basal cell nevus syndrome, Autosomal dominant;Holoprosencephaly 7, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1E-3,"D",1,"D",0.992,"D",0,"D",1,"D",2.485,"M",-2.3,"D",-5.04,"D",0.979,5.732,26.9,0.985,0.992,"D",0.754,"D",0.791,"D",0.651,0,5.49,1.062,1.199,1,0.998,15.577,"FamilyBased",".","ASD","WES",".","."]
[686,22542183,4,167000405,167000405,"G","C","DeNovo",".",".","4q32.3","exonic","SPOCK3",50859,".","nonsynonymous SNV","SPOCK3:NM_001204354:exon3:c.C27G:p.C9W,SPOCK3:NM_001040159:exon4:c.C294G:p.C98W,SPOCK3:NM_001204356:exon4:c.C294G:p.C98W,SPOCK3:NM_001204358:exon4:c.C294G:p.C98W,SPOCK3:NM_001204352:exon5:c.C150G:p.C50W,SPOCK3:NM_016950:exon5:c.C303G:p.C101W",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",1,"D",0,"D",1,"D",2.525,"M",1.38,"T",-7.76,"D",0.966,4.984,25.1,0.994,0.83,"D",0.032,"D",0.507,"D",0.554,0,4.32,0.069,1.048,0.966,0.998,10.421,"FamilyBased",".","ASD","WES",".","."]
[687,22542183,3,165829737,165829737,"A","C","DeNovo",".",".","3q26.1","exonic","BCHE",590,".","nonsynonymous SNV","BCHE:NM_000055:exon2:c.T1297G:p.F433V","Apnea, postanesthetic (3);Apnea, postanesthetic (3)",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.033,"D",0.89,"P",0.727,"P",0,"D",1,"D",1.255,"L",-0.18,"T",-5.31,"D",0.926,4.361,24.1,0.983,0.986,"D",-0.531,"T",0.278,"T",0.638,0,5.46,1.062,1.14,0.995,0.697,14.701,"FamilyBased",".","ASD","WES",".","."]
[693,22542183,13,61411451,61411451,"G","T","DeNovo",".",".","13q21.2","exonic","PCDH20",64881,".","nonsynonymous SNV","PCDH20:NM_022843:exon2:c.C2648A:p.S883Y",".","ID=COSM948245,COSM948244;OCCURENCE=1(endometrium)",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.233,"T",0.412,"B",0.172,"B",0,"D",1,"N",0.895,"L",0.43,"T",-0.28,"N",0.345,-0.548,0.167,0.618,0.71,"D",-1,"T",0.105,"T",0.516,0,6.07,0.917,1.048,0.881,0.997,10.328,"FamilyBased",".","ASD","WES",".","."]
[699,22542183,17,16121199,16121199,"G","A","DeNovo",".",".","17p11.2","exonic","NCOR1",9611,".","nonsynonymous SNV","NCOR1:NM_001190438:exon13:c.C1378T:p.P460S,NCOR1:NM_001190440:exon15:c.C1705T:p.P569S,NCOR1:NM_006311:exon16:c.C1705T:p.P569S",".",".","rs765840798",{"v":1.65e-05,"d":"1.65E-05"},0,0.0002,0,0,0,0,0,".",".",".",".",".",".",0.575,"T",1,"D",0.998,"D",0,"D",1,"D",1.06,"L",1.45,"T",-0.96,"N",0.465,3.71,23.3,0.994,0.985,"D",-1.074,"T",0.125,"T",0.707,0,5.7,0.917,1.048,0.98,0.813,18.835,"FamilyBased",".","ASD","WES",".","."]
[700,22542183,2,206557478,206557478,"G","A","DeNovo",".",".","2q33.3","exonic","ADAM23",8745,".","nonsynonymous SNV","ADAM23:NM_003812:exon10:c.G985A:p.V329M",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",0.996,"D",0,"D",1,"D",1.215,"L",-0.23,"T",-2.78,"D",0.671,6.766,32,0.999,0.983,"D",-0.403,"T",0.408,"T",0.706,0,5.83,0.917,1.048,0.998,0.985,20.116,"FamilyBased",".","ASD","WES",".","."]
[701,22542183,5,140668697,140668697,"C","T","DeNovo",".",".","5q31.3","exonic","WDR55",54853,".","nonsynonymous SNV","WDR55:NM_017706:exon4:c.C466T:p.R156W",".",".","rs542616043",{"v":5.77E-5,"d":"5.77E-05"},0,0.0002,0,0,{"v":4.5e-05,"d":"4.50E-05"},0,1E-4,".",".",".",".",".",".",0,"D",1,"D",0.999,"D",1,"U",1,"D",3.765,"H",1.38,"T",-7.52,"D",0.748,5.843,27.3,0.999,0.918,"D",-0.608,"T",0.322,"T",0.707,0,1.94,-0.058,0.036,0.997,0.987,8.944,"FamilyBased",".","ASD","WES",".","."]
[702,22542183,3,93900864,93900864,"C","T","DeNovo",".",".","3q11.1","exonic","PROS1",5627,".","nonsynonymous SNV","PROS1:NM_000313:exon7:c.G667A:p.D223N,PROS1:NM_001314077:exon8:c.G763A:p.D255N","Thrombophilia due to protein S deficiency, autosomal dominant, Autosomal dominant;Thrombophilia due to protein S deficiency, autosomal recessive, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.233,"T",0.458,"P",0.243,"B",0.121,"N",0.961,"N",0.025,"N",-2.93,"D",0.13,"N",0.13,2.889,21.8,0.999,0.627,"D",-0.435,"T",0.478,"T",0.638,0,4.08,0.871,0.8,0.996,0.914,5.111,"FamilyBased",".","ASD","WES",".","."]
[706,22542183,17,1467568,1467568,"C","A","DeNovo",".",".","17p13.3","exonic","MYO1C",4641,".","nonsynonymous SNV","MYO1C:NM_001080779:exon30:c.G2977T:p.V993L,MYO1C:NM_001080950:exon30:c.G2920T:p.V974L,MYO1C:NM_033375:exon30:c.G2872T:p.V958L",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.772,"T",0.041,"B",0.06,"B",2E-3,"N",0.921,"D",0.94,"L",1.22,"T",-1.73,"N",0.787,3.355,22.9,0.973,0.964,"D",-1.061,"T",0.069,"T",0.707,0,5.31,0.849,0.915,1,0.999,18.14,"FamilyBased",".","ASD","WES",".","."]
[707,22542183,9,127872724,127872724,"G","A","DeNovo",".",".","9q34.11","exonic","AK1",203,".","nonsynonymous SNV","AK1:NM_001318122:exon3:c.C221T:p.S74L,AK1:NM_000476:exon4:c.C173T:p.S58L,AK1:NM_001318121:exon4:c.C173T:p.S58L","Hemolytic anemia due to adenylate kinase deficiency, Autosomal recessive",".","rs138798179",2E-3,{"v":9.64e-05,"d":"9.64E-05"},0,0,0,0,0,0.0143,0.00319489,".",".",".",".",".",0.08,"T",0.841,"P",0.261,"B",1E-3,"N",0.958,"D",0.76,"N",-1.05,"T",-1.96,"N",0.372,5.391,26,0.998,0.939,"D",-0.478,"T",0.265,"T",0.707,0,5.13,0.917,0.953,0.978,0.84,13.079,"FamilyBased",".","ASD","WES",".","."]
[711,22542183,3,57280374,57280374,"C","G","DeNovo",".",".","3p14.3","exonic","ASB14",142686,".","nonsynonymous SNV","ASB14:NM_001142733:exon7:c.G815C:p.G272A",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",1,"D",".",".",1,"D",3.1,"M",1.56,"T",-4.42,"D",0.817,5.09,25.3,0.998,0.986,"D",0.189,"D",0.539,"D",0.421,0,5.72,0.871,0.892,0.956,0.797,19.875,"FamilyBased",".","ASD","WES",".","."]
[712,22542183,5,127657534,127657534,"C","G","DeNovo",".",".","5q23.2","exonic","CTXN3",613212,".","nonsynonymous SNV","CTXN3:NM_001048252:exon3:c.C13G:p.Q5E,CTXN3:NM_001127385:exon3:c.C13G:p.Q5E",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.976,"T",2E-3,"B",0.016,"B",0.657,"N",0.667,"N",".",".",1.58,"T",1,"N",0.205,0.082,3.413,0.744,0.917,"D",-1.115,"T",0.039,"T",0.487,0,4.52,0.598,0.935,0.992,0.883,13.067,"FamilyBased",".","ASD","WES",".","."]
[714,22542183,15,50254553,50254553,"G","T","DeNovo",".",".","15q21.2","exonic","HDC",3067,".","nonsynonymous SNV","HDC:NM_001306146:exon5:c.C553A:p.L185I,HDC:NM_002112:exon5:c.C553A:p.L185I",".",".","rs780307521",{"v":8.24e-06,"d":"8.24E-06"},0,0,0,0,{"v":1.5E-5,"d":"1.50E-05"},0,0,".",".",".",".",".",".",1E-3,"D",0.994,"D",0.945,"D",0,"D",1,"D",3.37,"M",0.51,"T",-1.87,"N",0.585,4.62,24.5,0.994,0.985,"D",-0.044,"T",0.412,"T",0.497,0,5.79,0.917,1.048,0.882,0.189,14.219,"FamilyBased",".","ASD","WES",".","."]
[715,22542183,9,35558536,35558536,"C","T","DeNovo",".",".","9p13.3","exonic","RUSC2",9853,".","nonsynonymous SNV","RUSC2:NM_001330740:exon7:c.C676T:p.R226C,RUSC2:NM_001135999:exon8:c.C3310T:p.R1104C,RUSC2:NM_014806:exon8:c.C3310T:p.R1104C",".",".","rs756342354",{"v":8.24e-06,"d":"8.24E-06"},0,0,0,0,{"v":1.5E-5,"d":"1.50E-05"},0,0,".",".",".",".",".",".",0,"D",1,"D",0.999,"D",0,"D",1,"D",2.215,"M",2.34,"T",-7.27,"D",0.841,7.836,35,0.999,0.944,"D",-1.014,"T",0.118,"T",0.706,0,5.48,0.871,0.935,1,1,14.845,"FamilyBased",".","ASD","WES",".","."]
[716,22542183,19,45057772,45057772,"A","G","DeNovo",".",".","19q13.32","exonic","CLASRP",11129,".","nonsynonymous SNV","CLASRP:NM_001278439:exon6:c.A301G:p.I101V,CLASRP:NM_007056:exon7:c.A487G:p.I163V",".",".","rs776942453",{"v":8.24e-06,"d":"8.24E-06"},0,0,0,0,0,0,{"v":6.06e-05,"d":"6.06E-05"},".",".",".",".",".",".",0.161,"T",0.998,"D",0.994,"D",0.003,"U",1,"D",1.995,"M",2.03,"T",-0.92,"N",0.379,4.126,23.8,0.999,0.977,"D",-1.052,"T",0.113,"T",0.707,0,4.7,1.062,1.088,1,0.998,12.166,"FamilyBased",".","ASD","WES",".","."]
[717,22542183,10,113578752,113578752,"A","T","DeNovo",".",".","10q25.3","exonic","HABP2",3026,".","nonsynonymous SNV","HABP2:NM_001177660:exon7:c.A616T:p.M206L,HABP2:NM_004132:exon7:c.A694T:p.M232L",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.065,"T",0.77,"P",0.625,"P",0,"D",1,"D",0.945,"L",-0.14,"T",-1.52,"N",0.431,3.524,23.1,0.977,0.942,"D",-0.782,"T",0.224,"T",0.487,0,5.36,1.062,1.199,1,1,14.208,"FamilyBased",".","ASD","WES",".","."]
[719,22542183,22,32084970,32084970,"A","G","DeNovo",".",".","22q12.3","exonic","SLC5A1",6523,".","nonsynonymous SNV","SLC5A1:NM_001256314:exon8:c.A575G:p.Y192C,SLC5A1:NM_000343:exon9:c.A956G:p.Y319C","Glucose/galactose malabsorption, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.024,"D",0.529,"P",0.521,"P",0,"D",1,"D",2.715,"M",-2.39,"D",-7.88,"D",0.962,4.542,24.3,0.994,0.983,"D",0.668,"D",0.762,"D",0.487,0,4.92,1.062,1.028,0.955,0.028,14.037,"FamilyBased",".","ASD","WES",".","."]
[722,22542183,2,165377601,165377601,"C","T","DeNovo",".",".","2q24.3","exonic","SCN2A",6326,".","nonsynonymous SNV","SCN2A:NM_001040143:exon22:c.C4259T:p.T1420M,SCN2A:NM_001040142:exon23:c.C4259T:p.T1420M,SCN2A:NM_021007:exon23:c.C4259T:p.T1420M","Epileptic encephalopathy, early infantile, 11, Autosomal dominant;Seizures, benign familial infantile, 3, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",0.998,"D",0,"D",1,"D",5.265,"H",-5.21,"D",-5.37,"D",0.975,7.572,34,0.999,0.992,"D",0.943,"D",0.989,"D",0.487,0,5.55,0.871,0.935,0.99,1,19.497,"FamilyBased",".","ASD","WES",".","."]
[724,22542183,19,8255826,8255826,"A","T","DeNovo",".",".","19p13.2","exonic","CERS4",79603,".","nonsynonymous SNV","CERS4:NM_024552:exon6:c.A415T:p.R139W",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",0.999,"D",0,"D",1,"D",3.535,"H",1.38,"T",-7.26,"D",0.652,5.418,26,0.999,0.937,"D",0.554,"D",0.783,"D",0.672,0,3.37,0.804,-0.511,0.768,0.124,7.851,"FamilyBased",".","ASD","WES",".","."]
[725,22542183,6,7883218,7883218,"T","C","DeNovo",".",".","6p24.3","exonic","TXNDC5",81567,".","nonsynonymous SNV","TXNDC5:NM_001145549:exon10:c.A901G:p.S301G,TXNDC5:NM_030810:exon10:c.A1225G:p.S409G",".",".","rs746666949",{"v":8.24e-06,"d":"8.24E-06"},0,0,0,0,{"v":1.5E-5,"d":"1.50E-05"},0,0,".",".",".",".",".",".",0.434,"T",1E-3,"B",0.003,"B",0.066,"N",1,"N",0.34,"N",3.94,"T",-1.83,"N",0.11,1.026,10.81,0.965,0.122,"N",-0.915,"T",2E-3,"T",0.646,0,0.869,-0.368,0.144,0.475,0.42,5.788,"FamilyBased",".","ASD","WES",".","."]
[727,22542183,11,47323695,47323695,"C","A","DeNovo",".",".","11p11.2","exonic","MADD",8567,".","nonsynonymous SNV","MADD:NM_001135943:exon28:c.C4093A:p.R1365S,MADD:NM_001135944:exon28:c.C4084A:p.R1362S,MADD:NM_130470:exon28:c.C4225A:p.R1409S,MADD:NM_130472:exon28:c.C4096A:p.R1366S,MADD:NM_130474:exon28:c.C4096A:p.R1366S,MADD:NM_130476:exon28:c.C4222A:p.R1408S,MADD:NM_130471:exon29:c.C4156A:p.R1386S,MADD:NM_130473:exon29:c.C4285A:p.R1429S,MADD:NM_003682:exon31:c.C4402A:p.R1468S,MADD:NM_130475:exon31:c.C4402A:p.R1468S",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",0.999,"D",0,"D",1,"D",2.07,"M",1.6,"T",-5.73,"D",0.98,6.967,33,0.998,0.901,"D",0.042,"D",0.497,"T",0.707,0,4.77,0.871,0.841,0.96,0.989,13.952,"FamilyBased",".","ASD","WES",".","."]
[728,22542183,14,104954397,104954397,"G","A","DeNovo",".",".","14q32.33","exonic","AHNAK2",113146,".","nonsynonymous SNV","AHNAK2:NM_001350929:exon7:c.C754T:p.R252C,AHNAK2:NM_138420:exon7:c.C1054T:p.R352C",".",".","rs371792227",{"v":8.44e-06,"d":"8.44E-06"},0,0,0,0,{"v":1.53e-05,"d":"1.53E-05"},0,0,".",".",".",".",".",".",0.055,"T",0.949,"P",0.272,"B",".",".",1,"N",0,"N",4.22,"T",-1.54,"N",0.149,2.671,20.6,0.993,0.035,"N",-0.906,"T",0.004,"T",0.707,0,-5.01,-1.741,-0.93,0,0,6.476,"FamilyBased",".","ASD","WES",".","."]
[729,22542183,16,27528685,27528685,"A","G","DeNovo",".",".","16p12.1","exonic","GTF3C1",2975,".","nonsynonymous SNV","GTF3C1:NM_001286242:exon6:c.T886C:p.Y296H,GTF3C1:NM_001520:exon6:c.T886C:p.Y296H",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.121,"T",1,"D",0.999,"D",0,"D",0.992,"D",0.895,"L",1.79,"T",-2.05,"N",0.877,5.85,27.3,0.998,0.982,"D",-1.029,"T",0.107,"T",0.707,0,5.26,1.062,1.199,0.998,1,15.131,"FamilyBased",".","ASD","WES",".","."]
[731,22542183,11,9993085,9993085,"C","T","DeNovo",".",".","11p15.4","exonic","SBF2",81846,".","nonsynonymous SNV","SBF2:NM_030962:exon11:c.G1072A:p.V358I","Charcot-Marie-Tooth disease, type 4B2, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.352,"T",0.068,"B",0.044,"B",0,"D",0.999,"D",0.125,"N",1.03,"T",-0.57,"N",0.154,2.722,20.9,0.977,0.9,"D",-1.09,"T",0.055,"T",0.732,0,4.13,0.871,0.892,0.999,1,10.388,"FamilyBased",".","ASD","WES",".","."]
[733,22542183,2,167243635,167243635,"C","T","DeNovo",".",".","2q24.3","exonic","XIRP2",129446,".","nonsynonymous SNV","XIRP2:NM_001199144:exon7:c.C1577T:p.S526L,XIRP2:NM_152381:exon9:c.C2243T:p.S748L",".","ID=COSM286565;OCCURENCE=1(oesophagus),1(endometrium),1(large_intestine)","rs199841320",{"v":8.35e-06,"d":"8.35E-06"},0,0,0,0,{"v":1.51e-05,"d":"1.51E-05"},0,0,".",".",".",".",".",".",0.396,"T",2E-3,"B",2E-3,"B",0.052,"N",1,"N",0.625,"N",4.18,"T",-2.67,"D",0.101,0.475,7.237,0.795,0.052,"N",-0.95,"T",0.007,"T",0.487,0,-1.21,-0.275,-0.249,0.877,0.669,11.427,"FamilyBased",".","ASD","WES",".","."]
[735,22542183,5,97094953,97094953,"C","T","DeNovo",".",".","5q15","exonic","LIX1",167410,".","nonsynonymous SNV","LIX1:NM_153234:exon6:c.G644A:p.R215Q",".",".","rs778567984",{"v":2.48E-5,"d":"2.48E-05"},0,0.0002,0,0,{"v":1.5E-5,"d":"1.50E-05"},0,0,".",".",".",".",".",".",1,"T",0,"B",0,"B",1E-3,"D",0.975,"N",-1.355,"N",1.07,"T",1.53,"N",0.109,1.461,13.11,0.624,0.452,"N",-0.975,"T",0.023,"T",0.615,0,2.6,-0.275,0.065,0.765,0.1,5.593,"FamilyBased",".","ASD","WES",".","."]
[737,22542183,11,118376594,118376594,"T","A","DeNovo",".",".","11q23.3","exonic","UBE4A",9354,".","nonsynonymous SNV","UBE4A:NM_001204077:exon10:c.T1471A:p.L491M,UBE4A:NM_004788:exon10:c.T1492A:p.L498M",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",0.988,"D",0.741,"P",0,"D",1,"D",2.305,"M",0.62,"T",-1.25,"N",0.449,5.075,25.3,0.995,0.921,"D",-0.795,"T",0.191,"T",0.732,0,0.021,0.054,0.144,0.998,1,10.657,"FamilyBased",".","ASD","WES",".","."]
[738,22542183,19,37886764,37886764,"C","T","DeNovo",".",".","19q13.13","exonic","WDR87",83889,".","nonsynonymous SNV","WDR87:NM_001291088:exon6:c.G6907A:p.E2303K,WDR87:NM_031951:exon6:c.G6790A:p.E2264K",".",".","rs201328117",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",0.997,"D",0.841,"P",".",".",1,"N",0.895,"L",1,"T",-0.6,"N",0.227,2.01,16.27,0.797,0.143,"N",-1.049,"T",0.109,"T",0.487,0,4.47,-0.115,0.88,1E-3,1E-3,9.139,"FamilyBased",".","ASD","WES",".","."]
[739,22542183,11,211335,211335,"A","G","DeNovo",".",".","11p15.5","exonic","RIC8A",60626,".","nonsynonymous SNV","RIC8A:NM_001286134:exon5:c.A955G:p.K319E,RIC8A:NM_021932:exon5:c.A955G:p.K319E",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.064,"T",0.977,"D",0.814,"P",0,"D",1,"D",1.935,"M",".",".",-2.25,"N",0.369,5.672,26.7,0.998,0.955,"D",-0.555,"T",0.259,"T",0.722,0,1.58,1.062,1.088,0.724,0.996,10.61,"FamilyBased",".","ASD","WES",".","."]
[740,22542183,11,78726141,78726141,"A","G","DeNovo",".",".","11q14.1","exonic","TENM4",26011,".","nonsynonymous SNV","TENM4:NM_001098816:exon23:c.T3488C:p.I1163T","Tremor, hereditary essential, 5, Autosomal dominant",".","rs762723848",{"v":1.66E-5,"d":"1.66E-05"},0,0,0,0,{"v":1.5E-5,"d":"1.50E-05"},0,{"v":6.06e-05,"d":"6.06E-05"},".",".",".",".",".",".",0.076,"T",0,"B",1E-3,"B",0,"D",0.972,"D",-0.345,"N",-2.53,"D",-2.12,"N",0.154,2.261,17.91,0.987,0.916,"D",-0.448,"T",0.385,"T",0.615,0,5.32,1.062,1.088,0.997,0.929,15.448,"FamilyBased",".","ASD","WES",".","."]
[742,22542183,15,48472629,48472629,"A","T","DeNovo",".",".","15q21.1","exonic","FBN1",2200,".","nonsynonymous SNV","FBN1:NM_000138:exon35:c.T4258A:p.C1420S","Acromicric dysplasia, Autosomal dominant;Ectopia lentis, familial, Autosomal dominant;Geleophysic dysplasia 2, Autosomal dominant;MASS syndrome;Marfan lipodystrophy syndrome, Autosomal dominant;Marfan syndrome, Autosomal dominant;Stiff skin syndrome, Autosomal dominant;Weill-Marchesani syndrome 2, dominant, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",0.991,"D",0.991,"D",0,"D",1,"D",4.165,"H",-5.89,"D",-9.18,"D",0.997,5.826,27.2,0.996,0.991,"D",0.976,"D",0.99,"D",0.722,0,5.81,1.062,1.199,1,1,15.829,"FamilyBased",".","ASD","WES",".","."]
[744,25363760,1,946422,946422,"C","T","DeNovo",".",".","1p36.33","exonic","NOC2L",26155,".","nonsynonymous SNV","NOC2L:NM_015658:exon15:c.G1783A:p.V595I",".",".","rs777256112",{"v":1.66E-5,"d":"1.66E-05"},0,0,0,0,{"v":3.03e-05,"d":"3.03E-05"},0,0,".",".",".",".",".",".",0.217,"T",0.999,"D",0.945,"D",0,"D",1,"D",1.435,"L",0.98,"T",0.01,"N",0.504,4.739,24.7,0.994,0.976,"D",-0.887,"T",0.197,"T",0.707,0,5.16,0.871,0.852,0.525,0.063,17.629,"FamilyBased&CaseControl",".","ASD","WES",".",2]
[745,25363760,1,962359,962359,"T","C","DeNovo",".",".","1p36.33","exonic","KLHL17",339451,".","nonsynonymous SNV","KLHL17:NM_198317:exon5:c.T716C:p.L239P",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.186,"T",0.998,"D",0.972,"D",0,"D",1,"D",2.46,"M",-0.47,"T",-1.9,"N",0.888,3.612,23.2,0.999,0.995,"D",-0.052,"T",0.515,"D",0.707,0,5.52,0.991,1.061,1,0.999,15.298,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[746,25363760,1,1487870,1487870,"C","T","DeNovo",".",".","1p36.33","exonic","ATAD3B",83858,".","nonsynonymous SNV","ATAD3B:NM_001317238:exon10:c.C1084T:p.L362F,ATAD3B:NM_031921:exon12:c.C1222T:p.L408F",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",2E-3,"D",1,"D",0.998,"D",0,"D",1,"D",2.725,"M",-4.27,"D",-3.71,"D",0.724,5.055,25.2,0.998,0.972,"D",1.063,"D",0.941,"D",0.672,0,2.5,0.808,0.551,0.996,0.088,12.322,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[747,25363760,1,1918071,1918071,"G","C","DeNovo",".",".","1p36.33","exonic","TMEM52",339456,".","nonsynonymous SNV","TMEM52:NM_178545:exon5:c.C441G:p.S147R",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",2E-3,"D",0.999,"D",0.996,"D",0,"D",0.681,"N",1.59,"L",1.1,"T",-3.69,"D",0.81,3.572,23.2,0.994,0.809,"D",-0.696,"T",0.194,"T",0.767,0,2.43,0.008,0.139,0.162,0.846,11.947,"FamilyBased&CaseControl",".","ASD","WES",".",2]
[749,25363760,1,6131658,6131658,"G","A","DeNovo",".",".","1p36.31","exonic","CHD5",26038,".","nonsynonymous SNV","CHD5:NM_015557:exon21:c.C3235T:p.R1079W",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",0.986,"D",0,"D",1,"D",4.28,"H",-2.63,"D",-7.3,"D",0.897,6.474,30,0.999,0.916,"D",1.035,"D",0.905,"D",0.581,0,4.16,0.917,0.1,0.998,0.567,13.569,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[750,25363760,1,6360598,6360598,"T","C","DeNovo",".",".","1p36.31","exonic","ACOT7",11332,".","nonsynonymous SNV","ACOT7:NM_181865:exon1:c.A55G:p.R19G",".",".","rs771155267",{"v":8.24e-06,"d":"8.24E-06"},0,0,0,0,{"v":1.5E-5,"d":"1.50E-05"},0,0,".",".",".",".",".",".",0.12,"T",0,"B",0,"B",".",".",1,"N",0,"N",1.5,"T",-0.21,"N",0.018,0.071,3.299,0.605,0.003,"N",-1.035,"T",0.047,"T",0.601,0,0.267,-0.342,0.075,2E-3,2E-3,5.024,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[751,25363760,1,6582241,6582241,"G","A","DeNovo",".",".","1p36.31","exonic","ZBTB48",3104,".","nonsynonymous SNV","ZBTB48:NM_001278647:exon3:c.G874A:p.E292K,ZBTB48:NM_001278648:exon3:c.G874A:p.E292K,ZBTB48:NM_005341:exon3:c.G874A:p.E292K",".",".","rs781278596",{"v":8.25e-06,"d":"8.25E-06"},0,0,0,0,{"v":1.5E-5,"d":"1.50E-05"},0,0,".",".",".",".",".",".",0.805,"T",0.954,"P",0.264,"B",0,"D",0.991,"D",0.4,"N",1.83,"T",-0.07,"N",0.558,4.957,25,0.999,0.882,"D",-1.084,"T",0.048,"T",0.722,0,5.52,0.917,1.048,0.998,0.993,14.089,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[752,25363760,1,8358763,8358763,"C","T","DeNovo",".",".","1p36.23","exonic","RERE",473,".","nonsynonymous SNV","RERE:NM_001042682:exon10:c.G2110A:p.E704K,RERE:NM_001042681:exon20:c.G3772A:p.E1258K,RERE:NM_012102:exon21:c.G3772A:p.E1258K","Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",0.968,"D",0.718,"P",".",".",1,"D",1.965,"M",-0.29,"T",-3.42,"D",0.949,4.902,24.9,0.999,0.947,"D",-0.272,"T",0.385,"T",0.707,0,5.46,0.871,0.932,0.996,0.999,18.667,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[753,25363760,1,12276713,12276713,"C","T","DeNovo",".",".","1p36.22","exonic","VPS13D",55187,".","nonsynonymous SNV","VPS13D:NM_015378:exon19:c.C3125T:p.S1042F,VPS13D:NM_018156:exon19:c.C3125T:p.S1042F",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",0.998,"D",0,"D",1,"D",2.25,"M",".",".",".",".",0.801,5.678,26.7,0.998,0.987,"D",-0.743,"T",0.299,"T",0.707,0,6.14,0.871,0.867,1,1,20.819,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[755,25363760,1,15104104,15104104,"G","A","DeNovo",".",".","1p36.21","exonic","KAZN",23254,".","nonsynonymous SNV","KAZN:NM_201628:exon13:c.G1963A:p.A655T",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",0.999,"D",0,"D",1,"D",3.095,"M",-1.93,"D",-2.99,"D",0.939,7.101,33,0.999,0.959,"D",0.766,"D",0.792,"D",0.497,0,5.52,0.917,0.902,0.997,0.993,14.942,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[756,25363760,1,15219383,15219383,"C","T","DeNovo",".",".","1p36.21","exonic","TMEM51",55092,".","nonsynonymous SNV","TMEM51:NM_001319665:exon4:c.C398T:p.T133M",".",".","rs748204095",{"v":8.4e-06,"d":"8.40E-06"},0,0,0,0,{"v":1.51e-05,"d":"1.51E-05"},0,0,".",".",".",".",".",".",".",".",0.591,"P",0.087,"B",".",".",1,"D",".",".",1.41,"T",".",".",".",1.434,12.97,0.524,0.164,"N",".",".",".",".",0.722,0,0.471,0.033,-0.321,0.998,0.997,9.456,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[757,25363760,1,15770441,15770441,"C","T","DeNovo",".",".","1p36.21","exonic","FBLIM1",54751,".","nonsynonymous SNV","FBLIM1:NM_001024216:exon4:c.C283T:p.P95S,FBLIM1:NM_001024215:exon5:c.C574T:p.P192S,FBLIM1:NM_017556:exon6:c.C574T:p.P192S,FBLIM1:NM_001350151:exon7:c.C574T:p.P192S",".",".","rs372662401",{"v":8.26e-06,"d":"8.26E-06"},{"v":9.63e-05,"d":"9.63E-05"},0,0,0,0,0,0,".",".",".",".",".",".",0.375,"T",0.98,"D",0.713,"P",0,"D",0.999,"D",0.715,"N",-2.2,"D",-1.52,"N",0.449,5.236,25.6,0.999,0.959,"D",-0.213,"T",0.512,"D",0.672,0,5.24,0.598,0.888,0.992,0.997,11.662,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[758,25363760,1,15909425,15909425,"A","C","DeNovo",".",".","1p36.13","exonic","SPEN",23013,".","nonsynonymous SNV","SPEN:NM_015001:exon4:c.A986C:p.D329A",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.003,"D",0.986,"D",0.759,"P",".",".",1,"D",0.805,"L",2.96,"T",-2.53,"D",0.484,5.786,27.1,0.985,0.993,"D",-0.882,"T",0.179,"T",0.707,0,5.58,1.062,1.199,1,1,14.327,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[759,25363760,1,16049211,16049211,"G","A","DeNovo",".",".","1p36.13","exonic","CLCNKB",1188,".","nonsynonymous SNV","CLCNKB:NM_001165945:exon1:c.G240A:p.M80I,CLCNKB:NM_000085:exon8:c.G747A:p.M249I","Bartter syndrome, type 3, Autosomal recessive;Bartter syndrome, type 4b, digenic, Digenic recessive",".","rs745782009",1E-4,0,{"v":8.68e-05,"d":"8.68E-05"},0,0,0.0002,0,0.0003,".",".",".",".",".",".",0.814,"T",0.013,"B",0.038,"B",0,"D",0.88,"D",0.765,"N",-3.21,"D",0.6,"N",0.3,0.096,3.565,0.793,0.381,"N",-0.414,"T",0.544,"D",0.497,0,1.89,0.917,-0.532,1,0.742,7.41,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[761,25363760,1,17205287,17205287,"G","A","DeNovo",".",".","1p36.13","exonic","PADI1",29943,".","nonsynonymous SNV","PADI1:NM_013358:exon1:c.G70A:p.E24K",".",".","rs61741697",0.0003,0.0029,0.0003,0,0,0,0,0,0.000599042,".",".",".",".",".",0.318,"T",0.995,"D",0.785,"P",0.999,"N",1,"N",2.325,"M",2.81,"T",-1.28,"N",0.45,-0.191,1.147,0.774,0.065,"N",-1.042,"T",0.044,"T",0.497,0,3.23,0.015,-0.738,0.007,0,9.235,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[762,25363760,1,17270243,17270243,"T","G","DeNovo",".",".","1p36.13","exonic","PADI3",51702,".","nonsynonymous SNV","PADI3:NM_016233:exon7:c.T663G:p.D221E","Uncombable hair syndrome, Autosomal recessive",".","rs145276833",0.0022,0.0006,0.0208,0.0006,0,{"v":4.55e-05,"d":"4.55E-05"},2.3E-3,0,0.00179712,".",".",".",".",".",0.139,"T",0.889,"P",0.426,"B",0,"D",0.937,"N",2.295,"M",2.56,"T",-0.29,"N",0.757,0.92,10.2,0.957,0.434,"N",-1.061,"T",0.025,"T",0.554,0,2.78,-0.243,-0.368,0.119,0.041,7.414,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[763,25363760,1,19120217,19120217,"G","A","DeNovo",".",".","1p36.13","exonic","UBR4",23352,".","nonsynonymous SNV","UBR4:NM_020765:exon69:c.C10273T:p.R3425C",".",".","rs775894038",{"v":1.65e-05,"d":"1.65E-05"},0,0,0,0,{"v":1.5E-5,"d":"1.50E-05"},0,{"v":6.06e-05,"d":"6.06E-05"},".",".",".",".",".",".",0,"D",1,"D",0.982,"D",0,"D",1,"D",2.485,"M",-1.25,"T",-7.71,"D",0.994,7.64,35,0.999,0.981,"D",0.312,"D",0.624,"D",0.672,0,5.5,0.917,1.048,0.994,0.992,13.861,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[764,25363760,1,20190727,20190727,"G","A","DeNovo",".",".","1p36.12","exonic","UBXN10",127733,".","nonsynonymous SNV","UBXN10:NM_152376:exon2:c.G166A:p.V56M",".",".","rs769718388",{"v":2.49e-05,"d":"2.49E-05"},0.0003,0,0,0,0,0,0,".",".",".",".",".",".",0.435,"T",1E-3,"B",0,"B",0.212,"N",1,"N",0.205,"N",".",".",-0.13,"N",0.033,-1.122,0.009,0.669,0.01,"N",-1.053,"T",0.033,"T",0.549,0,-10.7,-1.177,-1.353,0,0,1.482,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[768,25363760,1,23310663,23310663,"G","A","DeNovo",".",".","1p36.12","exonic","HNRNPR",10236,".","nonsynonymous SNV","HNRNPR:NM_001297621:exon9:c.C1213T:p.R405C,HNRNPR:NM_001297622:exon9:c.C1276T:p.R426C,HNRNPR:NM_001102397:exon10:c.C1390T:p.R464C,HNRNPR:NM_001102399:exon10:c.C1399T:p.R467C,HNRNPR:NM_001297620:exon10:c.C1579T:p.R527C,HNRNPR:NM_001102398:exon11:c.C1702T:p.R568C,HNRNPR:NM_005826:exon11:c.C1693T:p.R565C",".",".","rs750810000",{"v":8.25e-06,"d":"8.25E-06"},0,0,0,0,0,0,{"v":6.08e-05,"d":"6.08E-05"},".",".",".",".",".",".",1E-3,"D",1,"D",0.988,"D",0,"D",1,"D",2.57,"M",2.24,"T",-2.68,"D",0.826,4.765,24.7,0.994,0.969,"D",-0.917,"T",0.141,"T",0.722,0,4.97,0.917,1.048,1,1,12.106,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[769,25363760,1,24180767,24180767,"T","C","DeNovo",".",".","1p36.11","exonic","IFNLR1",163702,".","nonsynonymous SNV","IFNLR1:NM_170743:exon2:c.A146G:p.N49S,IFNLR1:NM_173064:exon2:c.A146G:p.N49S,IFNLR1:NM_173065:exon2:c.A146G:p.N49S",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.605,"T",0.009,"B",0.004,"B",0.033,"N",1,"D",0.35,"N",-0.62,"T",-2.08,"N",0.008,0.799,9.455,0.906,0.548,"D",-0.991,"T",0.122,"T",0.706,0,2.97,0.054,0.045,0.058,0.913,4.918,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[770,25363760,1,26122543,26122543,"A","G","DeNovo",".",".","1p36.11","exonic","PDIK1L",149420,".","nonsynonymous SNV","PDIK1L:NM_001243532:exon3:c.A992G:p.Q331R,PDIK1L:NM_152835:exon3:c.A992G:p.Q331R,PDIK1L:NM_001243533:exon4:c.A992G:p.Q331R",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.108,"T",2E-3,"B",0.009,"B",0,"D",0.992,"N",0.06,"N",0.01,"T",-1.28,"N",0.113,1.485,13.23,0.986,0.914,"D",-1.038,"T",0.127,"T",0.707,0,5.92,1.062,1.199,1,1,16.037,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[773,25363760,1,30873351,30873351,"C","T","DeNovo",".",".","1p35.2","exonic","SDC3",9672,".","nonsynonymous SNV","SDC3:NM_014654:exon5:c.G1189A:p.A397T",".",".","rs146077490",1E-4,0.0008,0,0.0002,0.0002,{"v":6.01e-05,"d":"6.01E-05"},0,1E-4,".",".",".",".",".",".",0.022,"D",1,"D",0.999,"D",0,"D",1,"D",0.895,"L",1.68,"T",-1.53,"N",0.839,5.977,27.7,0.999,0.923,"D",-0.933,"T",0.138,"T",0.732,0,5.3,0.871,0.935,0.999,1,18.545,"FamilyBased&CaseControl",".","ASD","WES",".",2]
[774,25363760,1,30964881,30964881,"G","A","DeNovo",".",".","1p35.2","exonic","PUM1",9698,".","nonsynonymous SNV","PUM1:NM_001020658:exon14:c.C2116T:p.R706C,PUM1:NM_014676:exon14:c.C2116T:p.R706C",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.003,"D",1,"D",0.999,"D",0,"D",1,"D",2.015,"M",2.35,"T",-4.93,"D",0.888,6.639,32,0.999,0.98,"D",-0.948,"T",0.148,"T",0.707,0,5.54,0.917,1.048,1,1,19.471,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[776,25363760,1,31433076,31433076,"C","G","DeNovo",".",".","1p35.2","exonic","SERINC2",347735,".","nonsynonymous SNV","SERINC2:NM_001199037:exon9:c.C1135G:p.R379G,SERINC2:NM_018565:exon9:c.C1135G:p.R379G,SERINC2:NM_178865:exon9:c.C1123G:p.R375G,SERINC2:NM_001199038:exon10:c.C1150G:p.R384G,SERINC2:NM_001199039:exon10:c.C958G:p.R320G",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.046,"D",0.098,"B",0.198,"B",0,"D",1,"D",1.765,"L",2.47,"T",-3.55,"D",0.49,6.457,29.9,0.998,0.694,"D",-1.094,"T",0.051,"T",0.706,0,3.64,-0.044,-0.055,0.583,0.444,11.178,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[778,25363760,1,32091919,32091919,"A","G","DeNovo",".",".","1p35.2","exonic","TMEM39B",55116,".","nonsynonymous SNV","TMEM39B:NM_001319678:exon4:c.A238G:p.K80E,TMEM39B:NM_001319679:exon4:c.A238G:p.K80E,TMEM39B:NM_001319677:exon6:c.A454G:p.K152E,TMEM39B:NM_018056:exon6:c.A835G:p.K279E",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.003,"D",0.997,"D",0.992,"D",0,"D",1,"D",2.39,"M",".",".",-2.95,"D",0.935,5.922,27.5,0.999,0.993,"D",-0.075,"T",0.445,"T",0.707,0,5.48,1.062,1.199,0.978,1,15.876,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[779,25363760,1,32771325,32771325,"C","G","DeNovo",".",".","1p35.1","exonic","KIAA1522",57648,".","nonsynonymous SNV","KIAA1522:NM_001198972:exon6:c.C1969G:p.P657A,KIAA1522:NM_020888:exon6:c.C2146G:p.P716A",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.029,"D",0.042,"B",0.031,"B",0.153,"N",1,"N",1.39,"L",2.5,"T",-1.32,"N",0.153,0.089,3.488,0.686,0.049,"N",-1.022,"T",0.03,"T",0.732,0,2.62,0.871,0.852,0.009,2E-3,4.515,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[780,25363760,1,35561044,35561044,"C","T","DeNovo",".",".","1p34.3","exonic","NCDN",23154,".","nonsynonymous SNV","NCDN:NM_001014841:exon3:c.C842T:p.P281L,NCDN:NM_014284:exon3:c.C893T:p.P298L,NCDN:NM_001014839:exon4:c.C893T:p.P298L",".",".","rs773171405",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.21,"T",0.11,"B",0.023,"B",2E-3,"N",1,"D",-0.46,"N",-0.31,"T",1.8,"N",0.675,2.027,16.38,0.899,0.689,"D",-0.98,"T",0.097,"T",0.672,0,4.76,0.871,0.852,0.994,0.995,10.517,"FamilyBased&CaseControl",".","ASD","WES",".",2]
[781,25363760,1,35817029,35817029,"G","T","DeNovo",".",".","1p34.3","exonic","AGO4",192670,".","nonsynonymous SNV","AGO4:NM_017629:exon2:c.G167T:p.R56L",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.125,"T",0,"B",0,"B",0,"D",1,"D",-0.06,"N",3.03,"T",0.45,"N",0.497,4.023,23.6,0.995,0.991,"D",-0.92,"T",0.015,"T",0.66,0,5.35,0.917,1.048,0.999,1,19.061,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[782,25363760,1,35841237,35841237,"G","T","DeNovo",".",".","1p34.3","exonic","AGO4",192670,".","nonsynonymous SNV","AGO4:NM_017629:exon14:c.G1797T:p.K599N",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.049,"D",0.06,"B",0.038,"B",0,"D",1,"D",1.53,"L",1.52,"T",-3.65,"D",0.319,4.618,24.5,0.998,0.984,"D",-1.099,"T",0.076,"T",0.651,0,5.1,0.917,1.044,1,1,15.503,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[783,25363760,1,36009009,36009009,"G","A","DeNovo",".",".","1p34.3","exonic","AGO3",192669,".","nonsynonymous SNV","AGO3:NM_177422:exon6:c.G292A:p.G98R,AGO3:NM_024852:exon8:c.G994A:p.G332R",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1E-3,"D",1,"D",1,"D",0,"D",1,"D",3.53,"H",2.59,"T",-6.8,"D",0.778,7.019,33,0.999,0.992,"D",-0.623,"T",0.176,"T",0.563,0,5.84,0.917,0.953,1,0.998,20.155,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[784,25363760,1,42163445,42163445,"G","A","DeNovo",".",".","1p34.2","exonic","GUCA2A",2980,".","nonsynonymous SNV","GUCA2A:NM_033553:exon2:c.C241T:p.L81F",".",".","rs145850777",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.011,"D",0.922,"P",0.627,"P",0.164,"N",1,"N",2.085,"M",0.73,"T",-2.82,"D",0.138,2.916,21.9,0.987,0.045,"N",-0.462,"T",0.179,"T",0.598,0,-11.6,-0.803,-0.471,0.012,0.916,15.067,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[787,25363760,1,44129753,44129753,"C","G","DeNovo",".",".","1p34.1","exonic","KLF17",128209,".","nonsynonymous SNV","KLF17:NM_173484:exon2:c.C482G:p.S161W",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",0.445,"B",0.082,"B",0.842,"N",1,"N",0.895,"L",2.8,"T",-3.27,"D",0.263,2.847,21.6,0.988,0.102,"N",-1.002,"T",0.023,"T",0.497,0,3.4,0.548,0.789,0.037,0.17,10.187,"FamilyBased&CaseControl",".","ASD","WES",".",2]
[788,25363760,1,44214849,44214849,"G","A","DeNovo",".",".","1p34.1","exonic","DMAP1",55929,".","nonsynonymous SNV","DMAP1:NM_019100:exon3:c.G344A:p.R115Q,DMAP1:NM_001034023:exon4:c.G344A:p.R115Q,DMAP1:NM_001034024:exon4:c.G344A:p.R115Q",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.526,"T",1,"D",0.996,"D",0,"D",1,"D",1.325,"L",1.83,"T",-2.27,"N",0.81,4.426,24.2,0.999,0.974,"D",-1.079,"T",0.127,"T",0.707,0,5.27,0.917,0.953,0.996,0.997,19.262,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[791,25363760,1,46512150,46512150,"C","A","DeNovo",".",".","1p33","exonic","DMBX1",127343,".","nonsynonymous SNV","DMBX1:NM_147192:exon4:c.C805A:p.Q269K,DMBX1:NM_172225:exon4:c.C790A:p.Q264K",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.071,"T",0.998,"D",0.99,"D",0,"D",1,"D",1.495,"L",-3.27,"D",-0.32,"N",0.849,4.853,24.9,0.993,0.971,"D",0.498,"D",0.807,"D",0.616,0,4.21,0.871,0.935,1,1,13.008,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[792,25363760,1,51306032,51306032,"T","C","DeNovo",".",".","1p32.3","exonic","TTC39A",22996,".","nonsynonymous SNV","TTC39A:NM_001080494:exon7:c.A536G:p.E179G,TTC39A:NM_001144832:exon7:c.A545G:p.E182G,TTC39A:NM_001297662:exon7:c.A638G:p.E213G,TTC39A:NM_001297663:exon7:c.A533G:p.E178G,TTC39A:NM_001297664:exon7:c.A452G:p.E151G,TTC39A:NM_001297665:exon7:c.A641G:p.E214G",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.178,"T",0.967,"D",0.578,"P",0.031,"N",0.969,"D",1.39,"L",0.8,"T",-2.79,"D",0.327,1.932,15.79,0.99,0.834,"D",-0.994,"T",0.127,"T",0.521,1,2.93,0.991,1.011,0.084,0.941,10.588,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[793,25363760,1,51787467,51787467,"G","C","DeNovo",".",".","1p32.3","exonic","OSBPL9",114883,".","nonsynonymous SNV","OSBPL9:NM_148905:exon18:c.G1581C:p.K527N,OSBPL9:NM_148904:exon19:c.G1581C:p.K527N,OSBPL9:NM_148907:exon19:c.G1785C:p.K595N,OSBPL9:NM_001330580:exon20:c.G1620C:p.K540N,OSBPL9:NM_001350210:exon21:c.G1470C:p.K490N,OSBPL9:NM_148906:exon22:c.G2064C:p.K688N,OSBPL9:NM_148908:exon22:c.G2076C:p.K692N,OSBPL9:NM_001350208:exon23:c.G1557C:p.K519N,OSBPL9:NM_001350209:exon23:c.G1557C:p.K519N,OSBPL9:NM_024586:exon23:c.G2115C:p.K705N,OSBPL9:NM_148909:exon23:c.G2145C:p.K715N",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.695,"T",1E-3,"B",0.003,"B",0,"D",1,"D",0.02,"N",1.46,"T",0.55,"N",0.145,1.826,15.14,0.958,0.859,"D",-1.057,"T",0.028,"T",0.707,0,3.18,0.069,1.048,0.998,1,2.92,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[794,25363760,1,54594686,54594686,"A","G","DeNovo",".",".","1p32.3","exonic","ACOT11",26027,".","nonsynonymous SNV","ACOT11:NM_015547:exon6:c.A602G:p.Q201R,ACOT11:NM_147161:exon6:c.A602G:p.Q201R",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.538,"T",1E-3,"B",0.004,"B",0,"D",1,"D",1.095,"L",2.86,"T",-1.31,"N",0.557,1.872,15.42,0.972,0.969,"D",-1.033,"T",0.02,"T",0.615,0,3.71,0.722,1.14,0.189,0.991,9.86,"FamilyBased&CaseControl",".","ASD","WES",".",2]
[796,25363760,1,58681903,58681903,"T","C","DeNovo",".",".","1p32.1","exonic","MYSM1",114803,".","nonsynonymous SNV","MYSM1:NM_001085487:exon8:c.A1141G:p.I381V",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.202,"T",0,"B",1E-3,"B",0,"N",0.888,"D",0.6,"N",1.84,"T",-0.6,"N",0.173,-0.527,0.188,0.769,0.804,"D",-1.014,"T",0.032,"T",0.732,0,-1.41,0.079,0.049,0.997,0.999,11.323,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[797,25363760,1,63323662,63323662,"A","T","DeNovo",".",".","1p31.3","exonic","FOXD3",27022,".","nonsynonymous SNV","FOXD3:NM_012183:exon1:c.A604T:p.I202F",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",0.999,"D",0.978,"D",0,"U",1,"D",3.31,"M",-3.96,"D",-4,"D",0.67,5.944,27.6,0.99,0.818,"D",1.055,"D",0.933,"D",0.726,0,2.81,1.039,0.854,1,1,11.47,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[798,25363760,1,64673389,64673389,"T","G","DeNovo",".",".","1p31.3","exonic","CACHD1",57685,".","nonsynonymous SNV","CACHD1:NM_001293274:exon18:c.T1764G:p.F588L,CACHD1:NM_020925:exon19:c.T2499G:p.F833L",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.656,"T",0.924,"P",0.827,"P",0,"N",1,"D",0.695,"N",2.05,"T",-2.25,"N",0.882,3.253,22.8,0.99,0.846,"D",-1.086,"T",0.027,"T",0.707,0,0.325,0.991,0.048,1,0.998,9.91,"FamilyBased&CaseControl",".","ASD","WES",".",2]
[799,25363760,1,66689270,66689270,"G","A","DeNovo",".",".","1p31.3","exonic","SGIP1",84251,".","nonsynonymous SNV","SGIP1:NM_001308203:exon13:c.G841A:p.D281N,SGIP1:NM_001350218:exon14:c.G865A:p.D289N,SGIP1:NM_001350217:exon16:c.G1450A:p.D484N,SGIP1:NM_032291:exon16:c.G1438A:p.D480N",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.007,"D",0.997,"D",0.989,"D",0,"D",1,"D",1.5,"L",4.11,"T",-2.59,"D",0.092,6.061,28.1,0.999,0.996,"D",-0.928,"T",0.018,"T",0.563,0,5.87,0.917,1.048,1,1,19.353,"FamilyBased&CaseControl",".","ASD","WES",".",2]
[803,25363760,1,85707821,85707821,"T","A","DeNovo",".",".","1p22.3","exonic","ZNHIT6",54680,".","nonsynonymous SNV","ZNHIT6:NM_017953:exon1:c.A464T:p.E155V,ZNHIT6:NM_001170670:exon2:c.A347T:p.E116V",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",0.994,"D",0.81,"P",0.021,"N",0.721,"N",0.55,"N",0.07,"T",-1.07,"N",0.349,6.081,28.2,0.992,0.762,"D",-0.856,"T",0.207,"T",0.733,0,4.31,0.991,1.011,0.18,0.83,11.709,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[804,25363760,1,86578009,86578009,"G","A","DeNovo",".",".","1p22.3","exonic","CLCA4",22802,".","nonsynonymous SNV","CLCA4:NM_012128:exon12:c.G2059A:p.A687T",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.297,"T",0.038,"B",0.01,"B",0.608,"N",1,"N",1.445,"L",3.94,"T",-0.63,"N",0.045,0.968,10.47,0.919,0.072,"N",-0.955,"T",0.005,"T",0.487,0,3.77,0.63,1.048,2E-3,0.003,11.384,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[805,25363760,1,89380473,89380473,"G","A","DeNovo",".",".","1p22.2","exonic","GBP6",163351,".","nonsynonymous SNV","GBP6:NM_001320257:exon4:c.G323A:p.R108Q,GBP6:NM_198460:exon6:c.G713A:p.R238Q",".",".","rs780373179",{"v":8.24e-06,"d":"8.24E-06"},0,0,0,0,{"v":1.5E-5,"d":"1.50E-05"},0,0,".",".",".",".",".",".",0.121,"T",0.815,"P",0.234,"B",0.242,"N",1,"N",1.85,"L",-0.93,"T",-2.89,"D",0.165,2.291,18.11,0.996,0.068,"N",-0.973,"T",0.136,"T",0.497,0,2.58,0.697,0.729,0.962,0.656,3.939,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[806,25363760,1,91508285,91508285,"G","T","DeNovo",".",".","1p22.1","exonic","CDC7",8317,".","nonsynonymous SNV","CDC7:NM_001134419:exon4:c.G223T:p.A75S,CDC7:NM_001134420:exon4:c.G223T:p.A75S,CDC7:NM_003503:exon4:c.G223T:p.A75S",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.009,"D",0.999,"D",0.969,"D",0,"D",1,"D",2.865,"M",2.92,"T",-1.73,"N",0.834,5.992,27.8,0.997,0.97,"D",-1.103,"T",0.082,"T",0.732,0,5.92,0.917,1.048,1,1,20.321,"FamilyBased&CaseControl",".","ASD","WES",".",2]
[808,25363760,1,92271475,92271475,"T","C","DeNovo",".",".","1p22.1","exonic","GLMN",11146,".","nonsynonymous SNV","GLMN:NM_001319683:exon8:c.A913G:p.M305V,GLMN:NM_053274:exon8:c.A913G:p.M305V","Glomuvenous malformations, Autosomal dominant",".","rs150323288",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"T",0,"B",1E-3,"B",0.005,"N",0.882,"N",1.39,"L",1.02,"T",-0.73,"N",0.404,-0.387,0.415,0.354,0.568,"D",-0.985,"T",0.021,"T",0.707,0,2.6,-0.013,1.007,0.997,1,2.942,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[809,25363760,1,93136815,93136815,"G","A","DeNovo",".",".","1p22.1","exonic","MTF2",22823,".","nonsynonymous SNV","MTF2:NM_001164393:exon13:c.G1264A:p.D422N,MTF2:NM_001164392:exon14:c.G1399A:p.D467N,MTF2:NM_007358:exon15:c.G1570A:p.D524N,MTF2:NM_001164391:exon16:c.G1264A:p.D422N",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.164,"T",0.48,"P",0.083,"B",0.007,"N",1,"D",0.345,"N",1.94,"T",-0.3,"N",0.092,3.276,22.8,0.997,0.99,"D",-1.058,"T",0.024,"T",0.707,0,5.9,0.917,1.048,1,0.999,20.282,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[810,25363760,1,93201929,93201929,"G","A","DeNovo",".",".","1p22.1","exonic","CCDC18",343099,".","nonsynonymous SNV","CCDC18:NM_001306076:exon7:c.G736A:p.E246K,CCDC18:NM_206886:exon7:c.G736A:p.E246K",".",".","rs559419360",{"v":6.68e-05,"d":"6.68E-05"},0,0,0.0004,0,{"v":6.04e-05,"d":"6.04E-05"},0,{"v":6.11e-05,"d":"6.11E-05"},".",".",".",".",".",".",0.01,"D",1,"D",0.996,"D",0,"D",1,"D",1.905,"M",".",".",-1.88,"N",0.603,6.143,28.4,0.999,0.972,"D",-0.462,"T",0.34,"T",0.651,0,5.21,0.917,1.048,0.991,0.994,16.895,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[812,25363760,1,94487581,94487581,"A","G","DeNovo",".",".","1p21.3","exonic","ABCD3",5825,".","nonsynonymous SNV","ABCD3:NM_002858:exon11:c.A937G:p.M313V",".",".","rs564987217",{"v":9.97e-05,"d":"9.97E-05"},0,1E-3,0,0,0,0,{"v":6.06e-05,"d":"6.06E-05"},".",".",".",".",".",".",0.124,"T",0.418,"B",0.145,"B",0,"D",1,"D",1.88,"L",-6.18,"D",-2.43,"N",0.874,1.746,14.67,0.974,0.992,"D",1.176,"D",0.94,"D",0.732,0,5.76,1.062,1.14,0.998,0.999,16.071,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[814,25363760,1,96806937,96806937,"G","A","DeNovo",".",".","1p21.3","exonic","PTBP2",58155,".","nonsynonymous SNV","PTBP2:NM_001300990:exon10:c.G994A:p.D332N,PTBP2:NM_001300985:exon11:c.G1165A:p.D389N,PTBP2:NM_001300986:exon11:c.G1174A:p.D392N,PTBP2:NM_001300988:exon11:c.G1165A:p.D389N,PTBP2:NM_001300989:exon11:c.G1150A:p.D384N,PTBP2:NM_021190:exon11:c.G1150A:p.D384N,PTBP2:NM_001300987:exon12:c.G1198A:p.D400N",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.025,"D",0.974,"D",0.989,"D",0,"D",1,"D",1.76,"L",0.65,"T",-3.63,"D",0.124,2.941,22,0.999,0.993,"D",-0.707,"T",0.228,"T",0.707,0,5.53,0.917,1.048,1,1,19.455,"FamilyBased&CaseControl",".","ASD","WES",".",2]
[815,25363760,1,107596257,107596257,"G","C","DeNovo",".",".","1p13.3","exonic","VAV3",10451,".","nonsynonymous SNV","VAV3:NM_001079874:exon8:c.C625G:p.P209A,VAV3:NM_006113:exon25:c.C2305G:p.P769A",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.158,"T",0.02,"B",0.032,"B",0,"D",0.976,"D",2.135,"M",1.77,"T",-3.4,"D",0.204,1.98,16.09,0.972,0.951,"D",-0.987,"T",0.099,"T",0.638,0,5.22,0.917,0.902,0.953,1,10.027,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[816,25363760,1,108772819,108772819,"G","A","DeNovo",".",".","1p13.3","exonic","STXBP3",6814,".","nonsynonymous SNV","STXBP3:NM_007269:exon7:c.G593A:p.S198N",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.162,"T",0.837,"P",0.493,"P",0,"D",0.999,"D",0.98,"L",-1.36,"T",-1.22,"N",0.147,1.954,15.92,0.986,0.956,"D",-0.644,"T",0.272,"T",0.706,0,5.88,0.917,1.048,0.969,0.946,13.097,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[817,25363760,1,108779310,108779310,"A","G","DeNovo",".",".","1p13.3","exonic","STXBP3",6814,".","nonsynonymous SNV","STXBP3:NM_007269:exon9:c.A709G:p.I237V",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.047,"D",0.024,"B",0.054,"B",0,"D",1,"D",2.06,"M",-1.95,"D",-0.74,"N",0.68,2.602,20.2,0.998,0.991,"D",-0.253,"T",0.436,"T",0.732,0,5.53,1.062,1.088,1,1,15.329,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[818,25363760,1,109914376,109914376,"C","T","DeNovo",".",".","1p13.3","exonic","CSF1",1435,".","nonsynonymous SNV","CSF1:NM_000757:exon2:c.C157T:p.R53W,CSF1:NM_172210:exon2:c.C157T:p.R53W,CSF1:NM_172211:exon2:c.C157T:p.R53W,CSF1:NM_172212:exon2:c.C157T:p.R53W",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.004,"D",0.999,"D",0.719,"P",0.126,"N",1,"N",0.895,"L",2.7,"T",-3.22,"D",0.475,5.727,26.9,0.997,0.206,"N",-1.012,"T",0.017,"T",0.707,0,-1.11,0.598,0.036,0.126,0.761,9.092,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[820,25363760,1,112542007,112542007,"T","C","DeNovo",".",".","1p13.2","exonic","ST7L",54879,".","nonsynonymous SNV","ST7L:NM_001308264:exon13:c.A1024G:p.M342V,ST7L:NM_138728:exon13:c.A1480G:p.M494V,ST7L:NM_017744:exon14:c.A1573G:p.M525V,ST7L:NM_138727:exon14:c.A1522G:p.M508V,ST7L:NM_138729:exon14:c.A1573G:p.M525V",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.182,"T",0.006,"B",0.01,"B",0,"N",1,"D",1.85,"L",2.61,"T",-1.49,"N",0.381,-0.118,1.602,0.753,0.919,"D",-1.062,"T",0.018,"T",0.651,0,1.26,0.991,-0.69,0.998,0.914,9.812,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[821,25363760,1,114611088,114611088,"C","T","DeNovo",".",".","1p13.2","exonic","DENND2C",163259,".","nonsynonymous SNV","DENND2C:NM_198459:exon6:c.G1183A:p.E395K,DENND2C:NM_001256404:exon9:c.G1354A:p.E452K",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.003,"D",0.66,"P",0.263,"B",0,"D",1,"D",2.275,"M",3.54,"T",-3.01,"D",0.938,4.83,24.8,0.999,0.967,"D",-1.137,"T",0.034,"T",0.615,0,5.71,0.871,0.852,1,0.995,18.035,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[824,25363760,1,116400995,116400995,"G","A","DeNovo",".",".","1p13.1","exonic","ATP1A1",476,".","nonsynonymous SNV","ATP1A1:NM_000701:exon19:c.G2707A:p.G903R,ATP1A1:NM_001160233:exon19:c.G2707A:p.G903R,ATP1A1:NM_001160234:exon19:c.G2614A:p.G872R",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",1,"D",0,"D",1,"D",3.18,"M",-2.59,"D",-5.53,"D",0.951,7.599,34,0.999,0.981,"D",0.901,"D",0.853,"D",0.707,0,4.8,0.917,0.998,0.999,0.99,18.401,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[825,25363760,1,117090190,117090190,"C","A","DeNovo",".",".","1p13.1","exonic","TTF2",8458,".","nonsynonymous SNV","TTF2:NM_003594:exon14:c.C2478A:p.D826E",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.022,"D",1,"D",1,"D",1E-3,"D",0.663,"N",1.615,"L",-2.93,"D",-1.34,"N",0.47,5.468,26.2,0.993,0.171,"N",0.175,"D",0.698,"D",0.707,0,-0.956,-0.379,0.077,0.99,0.998,9.454,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[830,25363760,1,150267777,150267777,"C","A","DeNovo",".",".","1q21.2","exonic","APH1A",51107,".","nonsynonymous SNV","APH1A:NM_001243771:exon2:c.G126T:p.E42D,APH1A:NM_001077628:exon3:c.G297T:p.E99D,APH1A:NM_016022:exon3:c.G297T:p.E99D",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.445,"T",0.982,"D",0.735,"P",0,"D",1,"D",2.38,"M",0.87,"T",-1.1,"N",0.308,2.27,17.97,0.993,0.835,"D",-0.932,"T",0.1,"T",0.628,0,4.08,0.871,0.892,1,1,10.992,"FamilyBased&CaseControl",".","ASD","WES",".",2]
[832,25363760,1,151139682,151139682,"C","T","DeNovo",".",".","1q21.3","exonic","SEMA6C",10500,".","nonsynonymous SNV","SEMA6C:NM_001178061:exon5:c.G253A:p.D85N,SEMA6C:NM_001178062:exon5:c.G253A:p.D85N,SEMA6C:NM_030913:exon5:c.G253A:p.D85N",".",".","rs117254261",0.0013,0,0,0.0134,0,0.0002,0,0.0007,0.00219649,".",".",".",".",".",0.62,"T",0.999,"D",0.981,"D",0,"N",0.569,"N",-0.595,"N",1.97,"T",-0.75,"N",0.06,2.424,18.98,0.993,0.727,"D",-1.071,"T",0.015,"T",0.706,0,3.13,0.871,-0.343,1,0.995,7.553,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[833,25363760,1,151400489,151400489,"C","A","DeNovo",".",".","1q21.3","exonic","PSMB4",5692,".","nonsynonymous SNV","PSMB4:NM_002796:exon3:c.C395A:p.A132D",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.077,"T",1,"D",1,"D",0,"D",1,"D",1.915,"M",1.87,"T",-2.67,"D",0.945,6.204,28.7,0.998,0.98,"D",-1.111,"T",0.108,"T",0.628,0,5.71,0.871,0.935,0.999,1,16.587,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[836,25363760,1,151815386,151815386,"C","G","DeNovo",".",".","1q21.3","exonic","RORC",6097,".","nonsynonymous SNV","RORC:NM_001001523:exon4:c.G275C:p.S92T,RORC:NM_005060:exon5:c.G338C:p.S113T","Immunodeficiency 42, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.075,"T",0.594,"P",0.356,"B",0.007,"U",1,"D",2.435,"M",-3.61,"D",-1.79,"N",0.592,5.502,26.2,0.992,0.979,"D",0.633,"D",0.768,"D",0.554,0,5.43,0.871,0.935,0.995,1,11.791,"FamilyBased&CaseControl",".","ASD","WES",".",2]
[837,25363760,1,152355334,152355334,"C","T","DeNovo",".",".","1q21.3","exonic","FLG2",388698,".","nonsynonymous SNV","FLG2:NM_001014342:exon3:c.G2452A:p.A818T",".",".","rs201979853",{"v":7.41e-05,"d":"7.41E-05"},0.0007,0,0,0,{"v":3e-05,"d":"3.00E-05"},0,0,".",".",".",".",".",".",0.689,"T",0.066,"B",0.01,"B",".",".",1,"N",-0.205,"N",2.16,"T",-0.14,"N",0.051,-0.111,1.649,0.579,0.013,"N",-0.944,"T",0.005,"T",0.487,0,-8.08,-2.997,-4.045,0,0,7.02,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[838,25363760,1,153631746,153631746,"G","A","DeNovo",".",".","1q21.3","exonic","S100A1",6271,".","nonsynonymous SNV","S100A1:NM_006271:exon3:c.G190A:p.E64K",".",".","rs747362553",{"v":1.65e-05,"d":"1.65E-05"},{"v":9.61e-05,"d":"9.61E-05"},0,0,0,{"v":1.5E-5,"d":"1.50E-05"},0,0,".",".",".",".",".",".",0.611,"T",0.778,"P",0.06,"B",0,"D",1,"D",".",".",2.65,"T",-1.2,"N",0.496,3.428,23,0.993,0.904,"D",-1.031,"T",0.042,"T",0.66,0,5.01,0.917,1.03,0.996,0.998,15.866,"FamilyBased&CaseControl",".","ASD","WES",".",2]
[841,25363760,1,154345134,154345134,"A","G","DeNovo",".",".","1q21.3","exonic","ATP8B2",57198,".","nonsynonymous SNV","ATP8B2:NM_020452:exon22:c.A2549G:p.N850S",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",0.999,"D",0,"D",1,"D",4.18,"H",-0.52,"T",-4.76,"D",0.505,5.842,27.3,0.999,0.969,"D",0.593,"D",0.643,"D",0.713,0,5.26,1.062,1.199,1,1,14.168,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[842,25363760,1,155327120,155327120,"C","A","DeNovo",".",".","1q22","exonic","RUSC1",23623,".","nonsynonymous SNV","RUSC1:NM_001278228:exon6:c.C977A:p.A326D,RUSC1:NM_001278230:exon6:c.C995A:p.A332D,RUSC1:NM_001105205:exon7:c.C1172A:p.A391D,RUSC1:NM_001278227:exon7:c.C896A:p.A299D,RUSC1:NM_001278229:exon7:c.C677A:p.A226D,RUSC1:NM_014328:exon7:c.C995A:p.A332D,RUSC1:NM_001105203:exon8:c.C2402A:p.A801D,RUSC1:NM_001105204:exon8:c.C2084A:p.A695D",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.217,"T",0.985,"D",0.474,"P",".",".",1,"N",1.39,"L",1.86,"T",-1.69,"N",0.376,1.948,15.89,0.989,0.506,"D",-1.11,"T",0.043,"T",0.732,0,3.99,0.871,-0.372,0.097,0,9.2,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[844,25363760,1,155962651,155962651,"G","A","DeNovo",".",".","1q22","exonic","ARHGEF2",9181,".","nonsynonymous SNV","ARHGEF2:NM_001162383:exon9:c.C1043T:p.A348V,ARHGEF2:NM_001162384:exon9:c.C1040T:p.A347V,ARHGEF2:NM_001350110:exon9:c.C962T:p.A321V,ARHGEF2:NM_001350111:exon9:c.C962T:p.A321V,ARHGEF2:NM_001350112:exon9:c.C989T:p.A330V,ARHGEF2:NM_004723:exon9:c.C959T:p.A320V",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.009,"D",0.97,"D",0.817,"P",0,"D",1,"D",3.155,"M",-0.34,"T",-3.22,"D",0.816,6.484,30,0.999,0.958,"D",0.062,"D",0.459,"T",0.731,0,4.95,0.917,1.029,0.998,1,16.057,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[846,25363760,1,156482625,156482625,"G","A","DeNovo",".",".","1q22","exonic","MEF2D",4209,".","nonsynonymous SNV","MEF2D:NM_001271629:exon3:c.C70T:p.R24W,MEF2D:NM_005920:exon3:c.C70T:p.R24W",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",1,"D",0,"D",1,"D",4.185,"H",-3.91,"D",-6.78,"D",0.922,6.948,33,0.999,0.902,"D",1.069,"D",0.94,"D",0.706,0,1.58,0.917,0.953,0.999,1,12.627,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[848,25363760,1,158256989,158256989,"G","A","DeNovo",".",".","1q23.1","exonic","CD1A",909,".","nonsynonymous SNV","CD1A:NM_001320652:exon4:c.G775A:p.A259T,CD1A:NM_001763:exon4:c.G808A:p.A270T",".","ID=COSM243554;OCCURENCE=1(large_intestine),1(prostate)","rs143177914",{"v":2.47e-05,"d":"2.47E-05"},0,0,0,0,{"v":4.5e-05,"d":"4.50E-05"},0,0,".",".",".",".",".",".",0.078,"T",0.973,"D",0.476,"P",0.115,"N",1,"N",2.005,"M",4.12,"T",-2.19,"N",0.1,2.747,21.1,0.972,0.019,"N",-0.941,"T",0.004,"T",0.516,0,-0.632,0.697,-0.78,2E-3,0,2.127,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[850,25363760,1,160311895,160311895,"T","C","DeNovo",".",".","1q23.2","exonic","COPA",1314,".","nonsynonymous SNV","COPA:NM_001098398:exon11:c.A1049G:p.K350R,COPA:NM_004371:exon11:c.A1049G:p.K350R",".",".","rs750476340",{"v":8.26e-06,"d":"8.26E-06"},0,0,0,0,{"v":1.5E-5,"d":"1.50E-05"},0,0,".",".",".",".",".",".",0.41,"T",0.041,"B",0.081,"B",0,"D",1,"D",1.35,"L",2.46,"T",-1.11,"N",0.459,2.165,17.28,0.997,0.985,"D",-0.985,"T",0.107,"T",0.707,0,5.24,0.991,0.964,1,1,13.962,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[852,25363760,1,161160944,161160944,"C","T","DeNovo",".",".","1q23.3","exonic","USP21",27005,".","nonsynonymous SNV","USP21:NM_001319847:exon2:c.C391T:p.L131F,USP21:NM_001319848:exon2:c.C304T:p.L102F,USP21:NM_012475:exon2:c.C304T:p.L102F,USP21:NM_001014443:exon3:c.C304T:p.L102F",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.01,"D",0.978,"D",0.396,"B",0.285,"N",0.955,"N",0.345,"N",0.86,"T",-0.22,"N",0.29,1.523,13.44,0.997,0.777,"D",-1.095,"T",0.037,"T",0.635,0,2.14,0.871,0.935,0.998,1,6.5,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[853,25363760,1,162020019,162020019,"G","A","DeNovo",".",".","1q23.3","exonic","OLFML2B",25903,".","nonsynonymous SNV","OLFML2B:NM_001297713:exon2:c.C338T:p.S113L,OLFML2B:NM_001347700:exon2:c.C338T:p.S113L,OLFML2B:NM_015441:exon2:c.C338T:p.S113L",".",".","rs142774017",1E-4,{"v":9.61e-05,"d":"9.61E-05"},0,0,0,1E-4,0,0.0004,0.000399361,".",".",".",".",".",1E-3,"D",0.867,"P",0.122,"B",".",".",0.974,"N",1.1,"L",1.13,"T",-3.35,"D",0.196,4.045,23.7,0.998,0.822,"D",-1.04,"T",0.037,"T",0.706,0,4.64,-0.045,0.953,0.081,0.474,10.45,"FamilyBased&CaseControl",".","ASD","WES",".",2]
[855,25363760,1,164821568,164821568,"C","T","DeNovo",".",".","1q23.3","exonic","PBX1",5087,".","nonsynonymous SNV","PBX1:NM_001204963:exon8:c.C1142T:p.T381I,PBX1:NM_002585:exon8:c.C1142T:p.T381I","Leukemia, acute pre-B-cell",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.136,"T",0.913,"P",0.544,"P",0,"D",1,"D",1.795,"L",1.86,"T",-0.43,"N",0.887,3.012,22.3,0.999,0.988,"D",0.236,"D",0.62,"D",0.707,0,5.41,0.871,0.935,1,1,18.792,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[857,25363760,1,170539329,170539329,"C","T","DeNovo",".",".","1q24.2","exonic","GORAB",92344,".","nonsynonymous SNV","GORAB:NM_001146039:exon2:c.C256T:p.L86F,GORAB:NM_152281:exon2:c.C256T:p.L86F","Geroderma osteodysplasticum, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.537,"T",0.969,"D",0.461,"P",2E-3,"N",0.878,"D",1.355,"L",-0.05,"T",-0.94,"N",0.085,3.956,23.6,0.998,0.91,"D",-0.894,"T",0.13,"T",0.707,0,4.49,0.871,0.887,0.993,0.891,13.711,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[859,25363760,1,173524027,173524027,"A","G","DeNovo",".",".","1q25.1","exonic","SLC9C2",284525,".","nonsynonymous SNV","SLC9C2:NM_178527:exon21:c.T2582C:p.I861T",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.062,"T",0,"B",0,"B",0.066,"N",1,"N",0,"N",3.75,"T",1.48,"N",0.058,0.517,7.558,0.827,0.457,"N",-0.894,"T",0.003,"T",0.487,0,3.32,0.03,-0.203,0.993,0.355,6.587,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[860,25363760,1,173978488,173978488,"C","T","DeNovo",".",".","1q25.1","exonic","RC3H1",149041,".","nonsynonymous SNV","RC3H1:NM_001300850:exon6:c.G1102A:p.D368N,RC3H1:NM_001300851:exon6:c.G1102A:p.D368N,RC3H1:NM_001300852:exon6:c.G1102A:p.D368N,RC3H1:NM_172071:exon6:c.G1102A:p.D368N",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.025,"D",0.998,"D",0.957,"D",0,"D",1,"D",1.78,"L",-3.37,"D",-3.68,"D",0.097,6.913,33,0.999,0.998,"D",0.818,"D",0.86,"D",0.563,0,5.19,0.871,0.935,0.998,1,18.727,"FamilyBased&CaseControl",".","ASD","WES",".",2]
[861,25363760,1,179341284,179341284,"T","G","DeNovo",".",".","1q25.2","exonic","SOAT1",6646,".","nonsynonymous SNV","SOAT1:NM_001252511:exon6:c.T580G:p.S194A,SOAT1:NM_001252512:exon6:c.T559G:p.S187A,SOAT1:NM_003101:exon7:c.T754G:p.S252A",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",1,"D",0,"D",1,"D",2.75,"M",2.01,"T",-2.4,"N",0.668,5.557,26.4,0.997,0.987,"D",-0.861,"T",0.151,"T",0.732,0,4.81,0.991,1.061,0.997,0.997,10.599,"FamilyBased&CaseControl",".","ASD","WES",".",2]
[863,25363760,1,180015915,180015915,"A","G","DeNovo",".",".","1q25.2","exonic","CEP350",9857,".","nonsynonymous SNV","CEP350:NM_014810:exon11:c.A2119G:p.S707G",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",0.998,"D",0.989,"D",0,"D",1,"D",1.1,"L",2.21,"T",-1.91,"N",0.714,6.02,27.9,0.999,0.978,"D",-1.128,"T",0.081,"T",0.563,0,5.57,1.062,1.199,0.999,1,15.395,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[865,25363760,1,182057754,182057754,"C","T","DeNovo",".",".","1q25.3","exonic","ZNF648",127665,".","nonsynonymous SNV","ZNF648:NM_001009992:exon2:c.G257A:p.S86N",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.008,"D",2E-3,"B",1E-3,"B",".",".",1,"N",0.805,"L",2.93,"T",-0.09,"N",0.032,-0.051,2.124,0.912,0.042,"N",-0.971,"T",0.017,"T",0.583,0,1.69,0.598,0.065,0.095,0.005,4.732,"FamilyBased&CaseControl",".","ASD","WES",".",2]
[868,25363760,1,192576824,192576824,"T","C","DeNovo",".",".","1q31.2","exonic","RGS1",5996,".","nonsynonymous SNV","RGS1:NM_002922:exon3:c.T269C:p.L90P",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",1,"D",0,"D",1,"D",4.045,"H",3.98,"T",-6.66,"D",0.982,6.46,29.9,0.976,0.985,"D",-0.864,"T",0.08,"T",0.487,0,5.91,0.991,1.061,0.996,1,15.171,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[871,25363760,1,196425889,196425889,"C","G","DeNovo",".",".","1q31.3","exonic","KCNT2",343450,".","nonsynonymous SNV","KCNT2:NM_001287819:exon11:c.G1084C:p.G362R,KCNT2:NM_001287820:exon11:c.G1084C:p.G362R,KCNT2:NM_198503:exon11:c.G1084C:p.G362R",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1E-3,"D",1,"D",1,"D",0,"D",1,"D",3.195,"M",-1.26,"T",-7.65,"D",0.928,7.019,33,0.999,0.952,"D",0.582,"D",0.722,"D",0.615,0,5.64,0.871,0.935,0.999,0.999,20.077,"FamilyBased&CaseControl",".","ASD","WES",".",2]
[872,25363760,1,197421299,197421299,"G","A","DeNovo",".",".","1q31.3","exonic","CRB1",23418,".","nonsynonymous SNV","CRB1:NM_001193640:exon4:c.G1135A:p.D379N,CRB1:NM_001257966:exon6:c.G1471A:p.D491N,CRB1:NM_201253:exon6:c.G1471A:p.D491N,CRB1:NM_001257965:exon8:c.G1264A:p.D422N","Leber congenital amaurosis 8;Pigmented paravenous chorioretinal atrophy, Autosomal dominant;Retinitis pigmentosa-12, autosomal recessive, Autosomal recessive","ID=COSM414722;OCCURENCE=1(large_intestine),1(urinary_tract)",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"T",0.003,"B",2E-3,"B",".",".",1,"N",-1.875,"N",-1.22,"T",1.75,"N",0.045,-1.35,0.004,0.206,0.014,"N",-0.955,"T",0.095,"T",0.487,0,-0.494,0.045,-0.668,0.934,0.013,7.017,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[874,25363760,1,201040355,201040355,"G","C","DeNovo",".",".","1q32.1","exonic","CACNA1S",779,".","nonsynonymous SNV","CACNA1S:NM_000069:exon43:c.C5246G:p.S1749C","Hypokalemic periodic paralysis, type 1, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.175,"T",0.118,"B",0.103,"B",0,"N",1,"N",0,"N",-3.89,"D",-1.63,"N",0.169,-0.053,2.109,0.534,0.028,"N",0.069,"D",0.717,"D",0.487,0,2.36,-0.044,0.791,0,2E-3,5.071,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[876,25363760,1,202773179,202773179,"C","G","DeNovo",".",".","1q32.1","exonic","KDM5B",10765,".","nonsynonymous SNV","KDM5B:NM_001314042:exon4:c.G515C:p.R172T,KDM5B:NM_001347591:exon4:c.G515C:p.R172T,KDM5B:NM_006618:exon4:c.G515C:p.R172T",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",2E-3,"D",1,"D",0.999,"D",0,"D",1,"D",2.74,"M",-0.32,"T",-4.43,"D",0.927,6.556,31,0.988,0.993,"D",0.836,"D",0.851,"D",0.707,0,5.95,0.871,0.935,0.994,0.998,20.375,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[877,25363760,1,202894745,202894745,"C","G","DeNovo",".",".","1q32.1","exonic","KLHL12",59349,".","nonsynonymous SNV","KLHL12:NM_001303109:exon7:c.G837C:p.M279I,KLHL12:NM_001303051:exon9:c.G1254C:p.M418I,KLHL12:NM_021633:exon9:c.G1140C:p.M380I",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.35,"T",0.005,"B",0.01,"B",0,"D",1,"D",0.46,"N",-1.07,"T",-1.29,"N",0.551,2.872,21.7,0.986,0.99,"D",-0.78,"T",0.246,"T",0.707,0,4.31,0.033,0.935,0.999,1,14.736,"FamilyBased&CaseControl",".","ASD","WES",".",2]
[881,25363760,1,205103861,205103861,"C","T","DeNovo",".",".","1q32.1","exonic","RBBP5",5929,".","nonsynonymous SNV","RBBP5:NM_001193272:exon5:c.G518A:p.G173D,RBBP5:NM_001193273:exon5:c.G137A:p.G46D,RBBP5:NM_005057:exon5:c.G518A:p.G173D",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",2E-3,"D",1,"D",0.999,"D",0,"D",1,"D",3.255,"M",2.02,"T",-6.15,"D",0.965,5.128,25.4,0.999,0.994,"D",-0.647,"T",0.216,"T",0.707,0,6.14,0.871,0.935,0.998,1,20.455,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[882,25363760,1,207091787,207091787,"A","G","DeNovo",".",".","1q32.1","exonic","C4BPB",725,".","nonsynonymous SNV","C4BPB:NM_000716:exon3:c.A376G:p.T126A,C4BPB:NM_001017364:exon3:c.A373G:p.T125A,C4BPB:NM_001017365:exon4:c.A376G:p.T126A,C4BPB:NM_001017366:exon4:c.A373G:p.T125A,C4BPB:NM_001017367:exon4:c.A376G:p.T126A",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.026,"D",0.664,"P",0.444,"B",0.166,"N",0.992,"N",2.49,"M",-0.14,"T",-2.11,"N",0.235,3.115,22.5,0.995,0.634,"D",-0.834,"T",0.261,"T",0.526,0,3.9,1.062,0.156,0.752,0.979,7.924,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[883,25363760,1,209843489,209843489,"G","A","DeNovo",".",".","1q32.2","exonic","DIEXF",27042,".","nonsynonymous SNV","DIEXF:NM_014388:exon11:c.G1820A:p.R607H",".",".","rs138648804",0.0004,0.0007,0.0002,0.0007,0.0011,{"v":9.08e-05,"d":"9.08E-05"},0,0.0012,0.000998403,".",".",".",".",".",0.009,"D",1,"D",0.953,"D",0,"D",1,"D",2.475,"M",0.78,"T",-3.72,"D",0.249,4.829,24.8,1,0.957,"D",-0.492,"T",0.281,"T",0.722,0,3.44,0.069,0.135,0.989,0.791,13.136,"FamilyBased&CaseControl",".","ASD","WES",".",2]
[884,25363760,1,211670300,211670300,"G","A","DeNovo",".",".","1q32.3","exonic","NEK2",4751,".","nonsynonymous SNV","NEK2:NM_001204182:exon5:c.C746T:p.T249M,NEK2:NM_001204183:exon5:c.C746T:p.T249M,NEK2:NM_002497:exon5:c.C746T:p.T249M",".",".","rs776935855",{"v":8.24e-06,"d":"8.24E-06"},0,0,0,0,{"v":1.5E-5,"d":"1.50E-05"},0,0,".",".",".",".",".",".",0.094,"T",0.955,"P",0.581,"P",0.004,"N",0.997,"D",0.245,"N",-0.2,"T",-2,"N",0.289,5.288,25.7,0.998,0.976,"D",-0.791,"T",0.167,"T",0.732,0,5.45,0.917,0.953,0.948,0.914,13.446,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[885,25363760,1,212888529,212888529,"G","A","DeNovo",".",".","1q32.3","exonic","FLVCR1",28982,".","nonsynonymous SNV","FLVCR1:NM_014053:exon7:c.G1348A:p.A450T","Ataxia, posterior column, with retinitis pigmentosa, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1E-3,"D",0.998,"D",0.991,"D",0,"D",1,"D",3.475,"M",0.17,"T",-3.68,"D",0.658,7.459,34,0.999,0.99,"D",0.13,"D",0.515,"D",0.707,0,5.78,0.917,0.953,1,1,19.6,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[886,25363760,1,214384392,214384392,"G","A","DeNovo",".",".","1q32.3","exonic","PTPN14",5784,".","nonsynonymous SNV","PTPN14:NM_005401:exon13:c.C1463T:p.P488L","Choanal atresia and lymphedema, Autosomal recessive","ID=COSM1689820;OCCURENCE=1(skin)","rs144475962",{"v":2.47e-05,"d":"2.47E-05"},{"v":9.61e-05,"d":"9.61E-05"},0,0,0,{"v":3e-05,"d":"3.00E-05"},0,0,".",".",".",".",".",".",1E-3,"D",1,"D",0.998,"D",0,"D",1,"D",2.19,"M",-0.98,"T",-6.29,"D",0.866,6.535,31,0.999,0.995,"D",0.231,"D",0.59,"D",0.719,0,5.49,0.917,1.048,0.965,0.872,19.363,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[888,25363760,1,216190231,216190231,"A","G","DeNovo",".",".","1q41","exonic","USH2A",7399,".","nonsynonymous SNV","USH2A:NM_007123:exon20:c.T4388C:p.L1463S,USH2A:NM_206933:exon20:c.T4388C:p.L1463S","Retinitis pigmentosa 39;Usher syndrome, type 2A, Autosomal recessive","ID=COSM1742275;OCCURENCE=1(urinary_tract)",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.028,"D",0.821,"P",0.383,"B",0.068,"N",0.915,"D",2.175,"M",0.47,"T",-3.15,"D",0.315,4.354,24.1,0.993,0.965,"D",-0.898,"T",0.15,"T",0.487,0,1.56,1.062,0.237,0.89,0.691,9.134,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[889,25363760,1,220059739,220059739,"C","A","DeNovo",".",".","1q41","exonic","BPNT1",10380,".","nonsynonymous SNV","BPNT1:NM_001286149:exon7:c.G560T:p.G187V,BPNT1:NM_001286150:exon7:c.G617T:p.G206V,BPNT1:NM_001286151:exon7:c.G560T:p.G187V,BPNT1:NM_006085:exon8:c.G725T:p.G242V",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",0.999,"D",0,"D",1,"D",3.3,"M",0.71,"T",-8.27,"D",0.87,7.355,34,0.996,0.989,"D",-0.035,"T",0.421,"T",0.732,0,5.77,0.871,0.799,0.991,0.997,19.993,"FamilyBased&CaseControl",".","ASD","WES",".",2]
[891,25363760,1,222632242,222632242,"A","G","DeNovo",".",".","1q41","exonic","MIA3",375056,".","nonsynonymous SNV","MIA3:NM_001324062:exon5:c.A3247G:p.T1083A,MIA3:NM_001324063:exon5:c.A3247G:p.T1083A,MIA3:NM_198551:exon5:c.A3247G:p.T1083A,MIA3:NM_001324064:exon6:c.A2755G:p.T919A",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.247,"T",0.019,"B",0.01,"B",".",".",1,"N",1.1,"L",3.72,"T",-0.41,"N",0.129,-1.168,0.007,0.266,0.039,"N",-0.902,"T",0.01,"T",0.707,0,-4.31,-0.179,-0.681,0.006,0,10.948,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[892,25363760,1,222662086,222662086,"G","A","DeNovo",".",".","1q41","exonic","MIA3",375056,".","nonsynonymous SNV","MIA3:NM_001300867:exon20:c.G1778A:p.R593Q,MIA3:NM_001324065:exon20:c.G1778A:p.R593Q,MIA3:NM_001324063:exon23:c.G4967A:p.R1656Q,MIA3:NM_001324062:exon25:c.G5144A:p.R1715Q,MIA3:NM_198551:exon25:c.G5144A:p.R1715Q,MIA3:NM_001324064:exon26:c.G4652A:p.R1551Q",".",".","rs776966377",{"v":8.31e-06,"d":"8.31E-06"},0,0,0,0,{"v":1.5E-5,"d":"1.50E-05"},0,0,".",".",".",".",".",".",0.028,"D",0.991,"D",0.541,"P",".",".",1,"N",2.215,"M",1.58,"T",-2.28,"N",0.174,4.733,24.6,0.995,0.118,"N",-1.036,"T",0.089,"T",0.707,0,1.13,0.917,0.138,0.985,0.984,5.548,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[893,25363760,1,227119847,227119847,"T","G","DeNovo",".",".","1q42.13","exonic","CDC42BPA",8476,".","nonsynonymous SNV","CDC42BPA:NM_003607:exon12:c.A1604C:p.K535T,CDC42BPA:NM_014826:exon12:c.A1604C:p.K535T",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.026,"D",0.981,"D",0.876,"P",0,"D",1,"D",2.415,"M",-0.27,"T",-2.73,"D",0.586,6.087,28.2,0.998,0.969,"D",-0.07,"T",0.458,"T",0.732,0,5.66,0.991,0.993,1,1,15.894,"FamilyBased&CaseControl",".","ASD","WES",".",2]
[901,25363760,1,248917179,248917179,"A","T","DeNovo",".",".","1q44","exonic","PGBD2",267002,".","nonsynonymous SNV","PGBD2:NM_170725:exon3:c.A595T:p.M199L",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.452,"T",0.998,"D",0.99,"D",0.011,"N",1,"D",1.52,"L",2.31,"T",-1.55,"N",0.611,2.123,17.01,0.939,0.596,"D",-1.074,"T",0.068,"T",0.563,0,3.9,0.804,0.885,0.998,0.999,9.328,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[929,25363760,2,45551183,45551183,"T","A","DeNovo",".",".","2p21","exonic","SRBD1",55133,".","nonsynonymous SNV","SRBD1:NM_018079:exon12:c.A1617T:p.L539F",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.019,"D",0.994,"D",0.795,"P",0,"D",0.91,"D",1.7,"L",0.77,"T",-2.27,"N",0.48,5.417,26,0.998,0.76,"D",-0.746,"T",0.182,"T",0.706,0,2.81,-0.342,-0.608,0.993,0.994,9.082,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[941,25363760,2,65018165,65018165,"G","A","DeNovo",".",".","2p14","exonic","SLC1A4",6509,".","nonsynonymous SNV","SLC1A4:NM_001193493:exon5:c.G235A:p.V79M,SLC1A4:NM_001348406:exon6:c.G469A:p.V157M,SLC1A4:NM_001348407:exon6:c.G469A:p.V157M,SLC1A4:NM_003038:exon6:c.G1129A:p.V377M","Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, Autosomal recessive","ID=COSM1408994;OCCURENCE=1(large_intestine)","rs760189211",{"v":1.65e-05,"d":"1.65E-05"},0,{"v":8.64e-05,"d":"8.64E-05"},1E-4,0,0,0,0,".",".",".",".",".",".",0.02,"D",1,"D",0.997,"D",0,"D",1,"D",2.005,"M",0.21,"T",-2.41,"N",0.889,7.057,33,0.999,0.97,"D",-0.433,"T",0.399,"T",0.672,0,6.17,0.917,1.048,0.981,0.926,20.879,"FamilyBased&CaseControl",".","ASD","WES",".",2]
[956,25363760,2,85665694,85665694,"C","T","DeNovo",".",".","2p11.2","exonic","SFTPB",6439,".","nonsynonymous SNV","SFTPB:NM_000542:exon6:c.G530A:p.R177Q,SFTPB:NM_198843:exon6:c.G530A:p.R177Q","Surfactant metabolism dysfunction, pulmonary, 1, Autosomal recessive","ID=COSM271523;OCCURENCE=2(large_intestine)","rs370750455",1E-4,{"v":9.85e-05,"d":"9.85E-05"},0,0,0,1E-4,0,0.0006,1.99681E-4,".",".",".",".",".",0.634,"T",0.039,"B",2E-3,"B",0.902,"N",1,"N",0,"N",-0.18,"T",0.43,"N",0.249,0.88,9.947,0.274,0.023,"N",-1.022,"T",0.102,"T",0.403,0,0.164,0.135,-1.363,0.11,2E-3,2.803,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[972,25363760,2,113183256,113183256,"C","T","DeNovo",".",".","2q14.1","exonic","PSD4",23550,".","nonsynonymous SNV","PSD4:NM_012455:exon2:c.C800T:p.S267F",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.115,"T",0.759,"P",0.276,"B",0.003,"N",0.532,"D",0.625,"N",2.4,"T",-1.73,"N",0.482,5.264,25.7,0.997,0.61,"D",-1.078,"T",0.026,"T",0.646,0,4.64,0.871,0.935,0.781,0.993,9.615,"FamilyBased&CaseControl",".","ASD","WES",".",2]
[988,25363760,2,165344802,165344802,"G","A","DeNovo",".",".","2q24.3","exonic","SCN2A",6326,".","nonsynonymous SNV","SCN2A:NM_001040143:exon15:c.G2810A:p.R937H,SCN2A:NM_001040142:exon16:c.G2810A:p.R937H,SCN2A:NM_021007:exon16:c.G2810A:p.R937H","Epileptic encephalopathy, early infantile, 11, Autosomal dominant;Seizures, benign familial infantile, 3, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",0.999,"D",0,"D",1,"D",3.865,"H",-5.2,"D",-4.84,"D",0.95,7.03,33,1,0.988,"D",1.045,"D",0.982,"D",0.615,0,5.42,0.917,1.048,0.958,0.981,19.249,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[1013,25363760,2,197409914,197409914,"A","G","DeNovo",".",".","2q33.1","exonic","SF3B1",23451,".","nonsynonymous SNV","SF3B1:NM_012433:exon7:c.T760C:p.W254R","Myelodysplastic syndrome, somatic",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.006,"D",0.987,"D",0.794,"P",0,"D",1,"D",2.36,"M",".",".",-7.47,"D",0.897,5.881,27.4,0.997,0.992,"D",-0.186,"T",0.381,"T",0.707,0,5.36,1.062,1.199,1,1,15.351,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[1017,25363760,2,202828991,202828991,"G","A","DeNovo",".",".","2q33.2","exonic","ICA1L",130026,".","nonsynonymous SNV","ICA1L:NM_001288624:exon1:c.C19T:p.P7S,ICA1L:NM_001288622:exon2:c.C19T:p.P7S,ICA1L:NM_001288623:exon2:c.C19T:p.P7S,ICA1L:NM_138468:exon3:c.C19T:p.P7S",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.704,"T",0.046,"B",0.045,"B",0.023,"N",1,"N",1.1,"L",".",".",0.6,"N",0.235,0.854,9.79,0.735,0.198,"N",-1.03,"T",0.074,"T",0.657,0,4.13,0.917,1.044,0.964,0.998,8.247,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[1031,25363760,2,219488576,219488576,"G","T","DeNovo",".",".","2q35","exonic","SPEG",10290,".","nonsynonymous SNV","SPEG:NM_005876:exon33:c.G7937T:p.R2646L","Centronuclear myopathy 5, Autosomal recessive","ID=COSM476954;OCCURENCE=1(lung)",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.14,"T",0.957,"D",0.649,"P",0.003,"N",0.555,"D",1.165,"L",-0.81,"T",-3.69,"D",0.468,5.61,26.5,0.996,0.902,"D",-0.59,"T",0.288,"T",0.646,0,4.37,0.917,1.048,0.974,0.997,4.566,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[1065,25363760,3,33517088,33517088,"C","T","DeNovo",".",".","3p22.3","exonic","CLASP2",23122,".","nonsynonymous SNV","CLASP2:NM_001207044:exon29:c.G3238A:p.A1080T,CLASP2:NM_015097:exon35:c.G3901A:p.A1301T",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.13,"T",0.998,"D",0.995,"D",0,"D",1,"D",1.21,"L",-0.28,"T",-2.16,"N",0.822,5.828,27.2,0.996,0.978,"D",-0.703,"T",0.289,"T",0.732,0,5.68,0.871,0.935,0.987,0.996,19.789,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[1080,25363760,3,48569441,48569441,"T","G","DeNovo",".",".","3p21.31","exonic","COL7A1",1294,".","nonsynonymous SNV","COL7A1:NM_000094:exon102:c.A7620C:p.E2540D","EBD inversa, Autosomal recessive;EBD, Bart type, Autosomal dominant;EBD, localisata variant (3);Epidermolysis bullosa dystrophica, AD, Autosomal dominant;Epidermolysis bullosa dystrophica, AR, Autosomal recessive;Epidermolysis bullosa pruriginosa, Autosomal recessive, Autosomal dominant;Epidermolysis bullosa, pretibial, Autosomal recessive, Autosomal dominant;Toenail dystrophy, isolated, Autosomal dominant;Transient bullous of the newborn, Autosomal recessive, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.228,"T",0.004,"B",0.01,"B",0.006,"N",0.789,"N",0.32,"N",-3.2,"D",-0.46,"N",0.186,-0.004,2.544,0.601,0.069,"N",-0.428,"T",0.515,"D",0.696,0,0.497,-0.013,0.112,0.974,0.74,9.143,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[1096,25363760,3,53723517,53723517,"G","A","DeNovo",".",".","3p21.1","exonic","CACNA1D",776,".","nonsynonymous SNV","CACNA1D:NM_001128839:exon13:c.G1750A:p.V584I,CACNA1D:NM_001128840:exon13:c.G1750A:p.V584I,CACNA1D:NM_000720:exon14:c.G1810A:p.V604I","Primary aldosteronism, seizures, and neurologic abnormalities, Autosomal dominant;Sinoatrial node dysfunction and deafness, Autosomal recessive","ID=COSM1047291,COSM1593947;OCCURENCE=1(endometrium)","rs773365038",{"v":1.65e-05,"d":"1.65E-05"},0,0,1E-4,0,0,0,{"v":6.06e-05,"d":"6.06E-05"},".",".",".",".",".",".",0.031,"D",0.996,"D",0.87,"P",0,"D",1,"D",1.845,"L",-4.93,"D",-0.79,"N",0.696,5.636,26.6,0.999,0.984,"D",1.084,"D",0.95,"D",0.549,0,6.07,0.917,1.048,0.994,0.991,20.644,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[1114,25363760,3,119708593,119708593,"C","T","DeNovo",".",".","3q13.33","exonic","MAATS1",89876,".","nonsynonymous SNV","MAATS1:NM_001320317:exon3:c.C176T:p.T59I,MAATS1:NM_001320316:exon4:c.C302T:p.T101I,MAATS1:NM_033364:exon4:c.C362T:p.T121I",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.368,"T",0.006,"B",0.009,"B",0.5,"N",1,"N",1.59,"L",1.97,"T",-0.96,"N",0.11,0.573,7.966,0.863,0.02,"N",-1.033,"T",0.091,"T",0.638,0,-0.256,-0.392,-0.17,0.204,0.582,5.924,"FamilyBased&CaseControl",".","ASD","WES",".",2]
[1127,25363760,3,141444330,141444330,"C","G","DeNovo",".",".","3q23","exonic","ZBTB38",253461,".","nonsynonymous SNV","ZBTB38:NM_001350100:exon4:c.C1942G:p.Q648E,ZBTB38:NM_001350099:exon6:c.C1942G:p.Q648E,ZBTB38:NM_001080412:exon8:c.C1942G:p.Q648E",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.093,"T",0.004,"B",0.006,"B",0.301,"N",1,"N",0.69,"N",3.61,"T",0.04,"N",0.183,0.331,5.991,0.907,0.382,"N",-0.988,"T",0.019,"T",0.707,0,4.65,-0.699,-0.41,1E-3,0.003,15.331,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[1142,25363760,3,183206150,183206150,"C","T","DeNovo",".",".","3q27.1","exonic","MCF2L2",23101,".","nonsynonymous SNV","MCF2L2:NM_015078:exon24:c.G2777A:p.R926Q",".","ID=COSM168465;OCCURENCE=1(endometrium),3(large_intestine)",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.706,"T",0.01,"B",1E-3,"B",0.89,"N",1,"N",-0.08,"N",0.95,"T",0.08,"N",0.043,0.48,7.273,0.786,2E-3,"N",-0.983,"T",0.045,"T",0.554,0,-7.16,-0.122,-2.344,1E-3,0.005,12.721,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[1154,25363760,4,1167618,1167618,"A","G","DeNovo",".",".","4p16.3","exonic","SPON2",10417,".","nonsynonymous SNV","SPON2:NM_012445:exon6:c.T850C:p.S284P,SPON2:NM_001128325:exon7:c.T850C:p.S284P,SPON2:NM_001199021:exon8:c.T850C:p.S284P",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.016,"D",0.999,"D",0.987,"D",0,"D",1,"D",4.445,"H",1.89,"T",-3.73,"D",0.946,7.738,35,0.999,0.982,"D",-0.057,"T",0.3,"T",0.652,0,4.85,1.062,1.199,0.998,0.997,13.605,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[1174,25363760,4,41644603,41644603,"G","A","DeNovo",".",".","4p13","exonic","LIMCH1",22998,".","nonsynonymous SNV","LIMCH1:NM_001112720:exon4:c.G577A:p.E193K,LIMCH1:NM_001330674:exon4:c.G577A:p.E193K,LIMCH1:NM_001112719:exon5:c.G613A:p.E205K,LIMCH1:NM_001330793:exon5:c.G613A:p.E205K,LIMCH1:NM_001330982:exon5:c.G613A:p.E205K,LIMCH1:NM_001330983:exon5:c.G613A:p.E205K,LIMCH1:NM_001330786:exon7:c.G598A:p.E200K,LIMCH1:NM_001289122:exon9:c.G1039A:p.E347K,LIMCH1:NM_001289124:exon9:c.G562A:p.E188K,LIMCH1:NM_001330791:exon9:c.G1039A:p.E347K,LIMCH1:NM_001330792:exon9:c.G1039A:p.E347K,LIMCH1:NM_001112717:exon10:c.G1075A:p.E359K,LIMCH1:NM_001112718:exon10:c.G1075A:p.E359K,LIMCH1:NM_001330784:exon10:c.G1075A:p.E359K,LIMCH1:NM_001330787:exon10:c.G1075A:p.E359K,LIMCH1:NM_001330788:exon10:c.G1075A:p.E359K,LIMCH1:NM_001330789:exon10:c.G1075A:p.E359K,LIMCH1:NM_001330790:exon10:c.G1075A:p.E359K,LIMCH1:NM_014988:exon10:c.G1075A:p.E359K,LIMCH1:NM_001330672:exon15:c.G2230A:p.E744K",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1E-3,"D",1,"D",0.999,"D",0,"D",1,"D",2.395,"M",0.51,"T",-3.26,"D",0.913,6.356,29.4,0.999,0.977,"D",0.082,"D",0.491,"T",0.677,0,4.5,0.917,1.048,0.993,0.96,15.693,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[1210,25363760,4,118705686,118705686,"A","G","DeNovo",".",".","4q26","exonic","METTL14",57721,".","nonsynonymous SNV","METTL14:NM_020961:exon10:c.A931G:p.I311V",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.169,"T",0.981,"D",0.869,"P",0,"D",1,"D",1.33,"L",1.05,"T",-0.24,"N",0.44,4.037,23.7,0.999,0.989,"D",-0.948,"T",0.174,"T",0.732,0,5.82,1.062,1.14,1,1,16.176,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[1226,25363760,4,159343304,159343304,"C","G","DeNovo",".",".","4q32.1","exonic","RAPGEF2",9693,".","nonsynonymous SNV","RAPGEF2:NM_001351727:exon16:c.C2671G:p.L891V,RAPGEF2:NM_001351728:exon16:c.C2671G:p.L891V,RAPGEF2:NM_014247:exon16:c.C2671G:p.L891V,RAPGEF2:NM_001351725:exon19:c.C2806G:p.L936V,RAPGEF2:NM_001351726:exon19:c.C2806G:p.L936V,RAPGEF2:NM_001351724:exon22:c.C3154G:p.L1052V",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.012,"D",1,"D",0.999,"D",0,"D",1,"D",2.75,"M",1.1,"T",-2.59,"D",0.828,5.197,25.5,0.998,0.727,"D",-0.599,"T",0.248,"T",0.722,0,3.85,-0.275,0.065,0.959,0.972,6.752,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[1246,25363760,5,65591794,65591794,"G","A","DeNovo",".",".","5q12.3","exonic","TRIM23",373,".","nonsynonymous SNV","TRIM23:NM_001656:exon11:c.C1700T:p.A567V",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.005,"D",0.982,"D",0.715,"P",0,"D",1,"D",1.445,"L",-0.73,"T",-1.73,"N",0.479,5.49,26.2,0.999,0.983,"D",-0.234,"T",0.39,"T",0.706,0,5.41,0.917,0.953,1,0.998,19.203,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[1255,25363760,5,84137322,84137322,"T","G","DeNovo",".",".","5q14.3","exonic","EDIL3",10085,".","nonsynonymous SNV","EDIL3:NM_001278642:exon4:c.A358C:p.N120H,EDIL3:NM_005711:exon5:c.A388C:p.N130H",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.042,"D",1,"D",0.994,"D",0,"D",1,"D",1.67,"L",-3.55,"D",-1.76,"N",0.509,5.921,27.5,0.997,0.983,"D",0.95,"D",0.878,"D",0.693,0,5.44,0.991,1.061,0.998,0.993,15.79,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[1283,25363760,5,146340248,146340248,"G","C","DeNovo",".",".","5q32","exonic","POU4F3",5459,".","nonsynonymous SNV","POU4F3:NM_002700:exon2:c.G821C:p.R274P","Deafness, autosomal dominant 15, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",0.872,"P",0.461,"P",0,"D",1,"D",2.57,"M",-1,"T",-2.97,"D",0.72,6.428,29.7,0.989,0.786,"D",0.041,"D",0.441,"T",0.437,0,4.62,0.917,1.047,0.996,0.997,16.398,"FamilyBased&CaseControl",".","ASD","WES",".",2]
[1299,25363760,5,171910702,171910702,"G","C","DeNovo",".",".","5q35.1","exonic","FBXW11",23291,".","nonsynonymous SNV","FBXW11:NM_033645:exon2:c.C141G:p.D47E,FBXW11:NM_012300:exon3:c.C243G:p.D81E,FBXW11:NM_033644:exon3:c.C204G:p.D68E",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"T",1E-3,"B",0.008,"B",0,"D",1,"D",-0.345,"N",1.03,"T",-0.28,"N",0.272,1.97,16.02,0.914,0.966,"D",-0.995,"T",0.081,"T",0.732,0,6.16,0.917,1.048,1,1,15.888,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[1316,25363760,6,24436688,24436688,"C","A","DeNovo",".",".","6p22.3","exonic","GPLD1",2822,".","nonsynonymous SNV","GPLD1:NM_001503:exon22:c.G2246T:p.G749V",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.2,"T",0.689,"P",0.155,"B",0.006,"N",0.998,"D",1.39,"L",-0.21,"T",-2.36,"N",0.489,3.816,23.4,0.995,0.234,"N",-0.995,"T",0.105,"T",0.615,0,5.23,0.853,0.935,0.956,0.988,13.252,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[1332,25363760,6,32641396,32641396,"C","G","DeNovo",".",".","6p21.32","exonic","HLA-DQA1",3117,".","nonsynonymous SNV","HLA-DQA1:NM_002122:exon2:c.C169G:p.Q57E",".",".","rs10093",0.3552,0.2831,0.3695,0.393,0.4375,0.3608,0.3826,0.3132,0.403355,".",".",".",".",".",0.446,"T",0.007,"B",0.027,"B",0.206,"N",1,"P",0.08,"N",5.83,"T",-0.68,"N",0.588,-3.474,1E-3,0.12,0.007,"N",-1.036,"T",0.011,"T",0.628,0,-7.66,-3.015,-5.608,0.264,0.007,8.879,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[1363,25363760,6,106512566,106512566,"C","A","DeNovo",".",".","6q21","exonic","CRYBG1",202,".","nonsynonymous SNV","CRYBG1:NM_001624:exon1:c.C225A:p.S75R",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.021,"D",1E-3,"B",1E-3,"B",0.052,"N",1,"N",1.04,"L",-0.65,"T",-1.58,"N",0.161,3.873,23.5,0.99,0.116,"N",-0.997,"T",0.121,"T",0.726,0,3.04,0.791,0.802,0.017,0.053,7.473,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[1381,25363760,6,152407088,152407088,"C","T","DeNovo",".",".","6q25.2","exonic","SYNE1",23345,".","nonsynonymous SNV","SYNE1:NM_033071:exon45:c.G6670A:p.V2224I,SYNE1:NM_182961:exon45:c.G6649A:p.V2217I","Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive",".","rs377531174",{"v":8.24e-05,"d":"8.24E-05"},{"v":9.61e-05,"d":"9.61E-05"},0.0002,0.0005,0,{"v":1.5E-5,"d":"1.50E-05"},0,1E-4,0.000399361,".",".",".",".",".",0.601,"T",0.004,"B",2E-3,"B",0.041,"N",1,"N",-0.55,"N",1.37,"T",0.02,"N",0.031,0.563,7.897,0.763,0.142,"N",-1.045,"T",0.017,"T",0.487,0,1.89,-0.51,0.023,0.275,0.475,0.636,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[1391,25363760,6,169665526,169665526,"G","A","DeNovo",".",".","6q27","exonic","WDR27",253769,".","nonsynonymous SNV","WDR27:NM_001202550:exon4:c.C362T:p.A121V,WDR27:NM_001350625:exon6:c.C539T:p.A180V,WDR27:NM_001350624:exon7:c.C539T:p.A180V,WDR27:NM_182552:exon7:c.C743T:p.A248V",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.063,"T",0.279,"B",0.124,"B",0.312,"N",1,"N",0.69,"N",1.01,"T",-1.55,"N",0.2,0.023,2.805,0.865,0.034,"N",-0.986,"T",0.044,"T",0.732,0,-5.19,-0.747,0.017,0.04,1E-3,10.216,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[1417,25363760,7,44694502,44694502,"A","G","DeNovo",".",".","7p13","exonic","OGDH",4967,".","nonsynonymous SNV","OGDH:NM_001165036:exon12:c.A1582G:p.K528E,OGDH:NM_002541:exon12:c.A1594G:p.K532E","Alpha-ketoglutarate dehydrogenase deficiency, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.343,"T",0.087,"B",0.081,"B",0,"D",1,"D",1.265,"L",-3.96,"D",-2.03,"N",0.682,4.98,25.1,0.996,0.984,"D",0.495,"D",0.792,"D",0.707,0,4.78,0.96,1.199,0.986,1,14.44,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[1435,25363760,7,88131372,88131372,"G","A","DeNovo",".",".","7q21.12","exonic","ADAM22",53616,".","nonsynonymous SNV","ADAM22:NM_001324417:exon11:c.G926A:p.R309H,ADAM22:NM_001324418:exon11:c.G929A:p.R310H,ADAM22:NM_001324419:exon11:c.G926A:p.R309H,ADAM22:NM_001324420:exon11:c.G929A:p.R310H,ADAM22:NM_001324421:exon11:c.G929A:p.R310H,ADAM22:NM_004194:exon11:c.G929A:p.R310H,ADAM22:NM_016351:exon11:c.G929A:p.R310H,ADAM22:NM_021721:exon11:c.G929A:p.R310H,ADAM22:NM_021722:exon11:c.G929A:p.R310H,ADAM22:NM_021723:exon11:c.G929A:p.R310H",".",".","rs774178977",{"v":8.3e-06,"d":"8.30E-06"},1E-4,0,0,0,0,0,0,".",".",".",".",".",".",0.765,"T",1,"D",0.989,"D",0,"D",1,"D",0.72,"N",-0.04,"T",-1.55,"N",0.746,2.915,21.9,0.999,0.917,"D",-0.824,"T",0.244,"T",0.615,0,5.48,0.917,0.998,0.993,1,12.996,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[1449,25363760,7,100157845,100157845,"T","G","DeNovo",".",".","7q22.1","exonic","C7orf43",55262,".","nonsynonymous SNV","C7orf43:NM_018275:exon2:c.A505C:p.K169Q",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.224,"T",0.999,"D",0.991,"D",0,"D",1,"D",0.695,"N",0.9,"T",-1.95,"N",0.698,2.038,16.46,0.952,0.84,"D",-0.9,"T",0.167,"T",0.789,0,5.66,0.991,1.061,0.999,0.998,13.837,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[1465,25363760,7,117382112,117382112,"A","C","DeNovo",".",".","7q31.2","exonic","ASZ1",136991,".","nonsynonymous SNV","ASZ1:NM_001301822:exon7:c.T221G:p.F74C,ASZ1:NM_001301821:exon8:c.T845G:p.F282C,ASZ1:NM_130768:exon8:c.T845G:p.F282C",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1E-3,"D",1,"D",1,"D",0,"D",1,"D",2.125,"M",-2.21,"D",-4.56,"D",0.716,5.836,27.2,0.994,0.971,"D",0.668,"D",0.764,"D",0.487,0,5.35,1.062,1.14,1,1,14.327,"FamilyBased&CaseControl",".","ASD","WES",".",2]
[1486,25363760,7,155711435,155711435,"C","T","DeNovo",".",".","7q36.3","exonic","RBM33",155435,".","nonsynonymous SNV","RBM33:NM_053043:exon8:c.C1181T:p.T394M",".",".","rs759100738",{"v":1.35e-05,"d":"1.35E-05"},0,0,0,0,{"v":2.27E-5,"d":"2.27E-05"},0,0,".",".",".",".",".",".",0.007,"D",0.981,"D",0.736,"P",".",".",0.996,"N",0.69,"N",0.83,"T",-2.18,"N",0.206,6.047,28,0.995,0.971,"D",-0.964,"T",0.133,"T",0.719,0,4.1,0.871,0.935,0.995,0.964,12.252,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[1515,25363760,8,39788196,39788196,"T","C","DeNovo",".",".","8p11.22","exonic","ADAM2",2515,".","nonsynonymous SNV","ADAM2:NM_001278113:exon8:c.A641G:p.D214G,ADAM2:NM_001278114:exon9:c.A698G:p.D233G,ADAM2:NM_001464:exon9:c.A698G:p.D233G",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.006,"D",0.998,"D",0.983,"D",".",".",1,"D",2.94,"M",2.85,"T",-5.94,"D",0.601,4.059,23.7,0.998,0.853,"D",-0.874,"T",0.095,"T",0.487,0,4.57,0.732,0.733,0.948,0.97,10.617,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[1529,25363760,8,88056195,88056195,"G","T","DeNovo",".",".","8q21.3","exonic","MMP16",4325,".","nonsynonymous SNV","MMP16:NM_005941:exon8:c.C1306A:p.P436T",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.664,"T",0,"B",2E-3,"B",0,"D",0.979,"D",-0.065,"N",3.01,"T",0.21,"N",0.117,0.973,10.51,0.42,0.865,"D",-1.019,"T",0.014,"T",0.706,0,5.03,0.917,0.127,1,0.996,11.881,"FamilyBased&CaseControl",".","ASD","WES",".",2]
[1546,25363760,8,144316668,144316668,"G","C","DeNovo",".",".","8q24.3","exonic","DGAT1",8694,".","nonsynonymous SNV","DGAT1:NM_012079:exon17:c.C1353G:p.N451K",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.658,"T",0.971,"D",0.621,"P",".",".",1,"D",".",".",-0.99,"T",-0.67,"N",".",2.624,20.3,0.996,0.969,"D",-0.748,"T",0.202,"T",0.752,0,3.64,0.917,0.953,1,0.998,5.941,"FamilyBased&CaseControl",".","ASD","WES",".",2]
[1560,25363760,9,19360250,19360250,"T","G","DeNovo",".",".","9p22.1","exonic","DENND4C",55667,".","nonsynonymous SNV","DENND4C:NM_017925:exon28:c.T5020G:p.L1674V,DENND4C:NM_001330640:exon29:c.T5167G:p.L1723V",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.071,"T",0.94,"P",0.426,"B",0.373,"N",0.824,"D",1.83,"L",3.28,"T",-2.35,"N",0.214,3.204,22.7,0.995,0.968,"D",-0.98,"T",0.077,"T",0.707,0,4.35,0.054,0.079,0.993,0.995,6.474,"FamilyBased&CaseControl",".","ASD","WES",".",2]
[1582,25363760,9,122820372,122820372,"C","T","DeNovo",".",".","9q33.2","exonic","PDCL",5082,".","nonsynonymous SNV","PDCL:NM_005388:exon4:c.G619A:p.A207T",".",".","rs375358955",{"v":4.94e-05,"d":"4.94E-05"},0,{"v":8.65e-05,"d":"8.65E-05"},0.0006,0,0,0,0,".",".",".",".",".",".",0.563,"T",0.003,"B",1E-3,"B",0.047,"N",1,"N",0.925,"L",0.41,"T",-0.36,"N",0.047,-0.307,0.641,0.706,0.05,"N",-1.042,"T",0.075,"T",0.731,0,0.503,-0.048,-0.836,0.942,0.018,4.255,"FamilyBased&CaseControl",".","ASD","WES",".",2]
[1599,25363760,10,1015841,1015841,"G","A","DeNovo",".",".","10p15.3","exonic","GTPBP4",23560,".","nonsynonymous SNV","GTPBP4:NM_012341:exon16:c.G1697A:p.R566Q",".",".","rs773394843",{"v":2.48E-5,"d":"2.48E-05"},0,0,0,0,{"v":3e-05,"d":"3.00E-05"},0,{"v":6.09e-05,"d":"6.09E-05"},".",".",".",".",".",".",0.017,"D",0.863,"P",0.217,"B",0,"D",1,"D",2.33,"M",1.18,"T",-2.01,"N",0.535,5.334,25.8,0.999,0.97,"D",-0.858,"T",0.117,"T",0.707,0,5.67,0.917,0.998,0.247,0.052,19.759,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[1614,25363760,10,49483383,49483383,"C","T","DeNovo",".",".","10q11.23","exonic","ERCC6",2074,".","nonsynonymous SNV","ERCC6:NM_000124:exon9:c.G1955A:p.R652Q,ERCC6:NM_001346440:exon9:c.G1955A:p.R652Q","Cerebrooculofacioskeletal syndrome 1, Autosomal recessive;Cockayne syndrome, type B, Autosomal recessive;De Sanctis-Cacchione syndrome, Autosomal recessive;Premature ovarian failure 11, Autosomal dominant;UV-sensitive syndrome 1, Autosomal recessive","ID=COSM1348078;OCCURENCE=2(large_intestine)",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",0.999,"D",".",".",1,"D",3.515,"H",-3.28,"D",-3.73,"D",0.858,7.928,35,1,0.983,"D",1.061,"D",0.929,"D",0.707,0,5.5,0.871,0.935,1,1,19.753,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[1634,25363760,10,87792665,87792665,"T","C","DeNovo",".",".","10q23.31","exonic","ATAD1",84896,".","nonsynonymous SNV","ATAD1:NM_001321967:exon3:c.A253G:p.N85D,ATAD1:NM_001321968:exon3:c.A253G:p.N85D,ATAD1:NM_032810:exon3:c.A253G:p.N85D",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"T",0,"B",0,"B",0,"D",0.861,"D",-0.685,"N",-3.23,"D",0.92,"N",0.064,1.039,10.88,0.512,0.995,"D",-0.15,"T",0.56,"D",0.732,0,4.43,0.991,1.061,0.998,0.996,12.056,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[1656,25363760,10,125772732,125772732,"G","A","DeNovo",".",".","10q26.2","exonic","MMP21",118856,".","nonsynonymous SNV","MMP21:NM_147191:exon3:c.C716T:p.P239L","Heterotaxy, visceral, 7, autosomal, Autosomal recessive",".","rs766589917",{"v":8.38e-06,"d":"8.38E-06"},0,0,0,0,0,0,{"v":6.1e-05,"d":"6.10E-05"},".",".",".",".",".",".",0.065,"T",0.249,"B",0.091,"B",0.036,"N",1,"N",0.77,"N",2.46,"T",-3,"D",0.278,3.435,23,0.978,0.395,"N",-1.02,"T",0.026,"T",0.554,0,3.42,-0.044,1.048,0.463,0.725,10.073,"FamilyBased&CaseControl",".","ASD","WES",".",2]
[1686,25363760,11,11372538,11372538,"C","T","DeNovo",".",".","11p15.4","exonic","GALNT18",374378,".","nonsynonymous SNV","GALNT18:NM_198516:exon6:c.G1069A:p.E357K",".",".","rs766688808",{"v":1.65e-05,"d":"1.65E-05"},0,0,0,0,{"v":3e-05,"d":"3.00E-05"},0,0,".",".",".",".",".",".",1E-3,"D",0.999,"D",0.972,"D",0,"D",1,"D",3.82,"H",-0.55,"T",-3.31,"D",0.995,6.347,29.3,0.999,0.989,"D",0.563,"D",0.676,"D",0.706,0,6,0.871,0.935,0.995,0.965,19.111,"FamilyBased&CaseControl",".","ASD","WES",".",2]
[1700,25363760,11,33085109,33085109,"C","T","DeNovo",".",".","11p13","exonic","CSTF3",1479,".","nonsynonymous SNV","CSTF3:NM_001326:exon21:c.G2132A:p.R711Q",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",0.98,"D",0,"D",1,"D",2.08,"M",".",".",-2.91,"D",0.74,7.453,34,1,0.996,"D",-0.198,"T",0.447,"T",0.707,0,6.16,0.871,0.935,0.996,0.999,20.86,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[1712,25363760,11,58507813,58507813,"T","C","DeNovo",".",".","11q12.1","exonic","OR5B21",219968,".","nonsynonymous SNV","OR5B21:NM_001005218:exon1:c.A293G:p.Q98R",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1E-3,"D",0.996,"D",0.931,"D",0.004,"U",0.954,"D",4.41,"H",7.23,"T",-3.92,"D",0.592,4.821,24.8,0.998,0.983,"D",-1.138,"T",0.008,"T",0.56,0,4.07,0.991,1.058,0.997,0.996,9.987,"FamilyBased&CaseControl",".","ASD","WES",".",2]
[1731,25363760,11,66591209,66591209,"T","G","DeNovo",".",".","11q13.2","exonic","CCDC87",55231,".","nonsynonymous SNV","CCDC87:NM_018219:exon1:c.A1807C:p.N603H",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.035,"D",0.875,"P",0.275,"B",0.121,"N",1,"N",1.61,"L",1.46,"T",-2.09,"N",0.079,0.844,9.733,0.991,0.235,"N",-1.026,"T",0.073,"T",0.516,0,2.59,0.044,0.086,0.095,0.059,5.531,"FamilyBased&CaseControl",".","ASD","WES",".",2]
[1744,25363760,11,77747067,77747067,"A","G","DeNovo",".",".","11q14.1","exonic","RSF1",51773,".","nonsynonymous SNV","RSF1:NM_016578:exon3:c.T341C:p.M114T",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.103,"T",0.999,"D",0.991,"D",0,"D",1,"D",0.84,"L",1.38,"T",-0.92,"N",0.836,5.563,26.4,0.991,0.986,"D",0.368,"D",0.625,"D",0.732,0,5.66,1.062,1.088,1,1,15.581,"FamilyBased&CaseControl",".","ASD","WES",".",2]
[1757,25363760,11,114571074,114571074,"T","G","DeNovo",".",".","11q23.2","exonic","NXPE4",54827,".","nonsynonymous SNV","NXPE4:NM_001077639:exon6:c.A1499C:p.K500T,NXPE4:NM_017678:exon6:c.A647C:p.K216T",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.066,"T",0.792,"P",0.542,"P",0,"D",1,"N",2.72,"M",2.54,"T",-3.33,"D",0.526,4.346,24.1,0.997,0.042,"N",-1.062,"T",0.05,"T",0.497,0,0.163,0.079,1.061,0.62,0.809,2.458,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[1776,25363760,12,198909,198909,"A","C","DeNovo",".",".","12p13.33","exonic","SLC6A12",6539,".","nonsynonymous SNV","SLC6A12:NM_001206931:exon7:c.T734G:p.F245C,SLC6A12:NM_001122847:exon8:c.T734G:p.F245C,SLC6A12:NM_001122848:exon8:c.T734G:p.F245C,SLC6A12:NM_003044:exon9:c.T734G:p.F245C",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",1,"D",0,"D",1,"D",4.695,"H",-1.27,"T",-7.57,"D",0.764,5.674,26.7,0.994,0.856,"D",0.893,"D",0.789,"D",0.516,0,4.44,1.062,1.088,0.998,0.997,14.008,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[1805,25363760,12,54572646,54572646,"G","A","DeNovo",".",".","12q13.2","exonic","PDE1B",5153,".","nonsynonymous SNV","PDE1B:NM_001315535:exon4:c.G28A:p.G10S,PDE1B:NM_001165975:exon6:c.G580A:p.G194S,PDE1B:NM_001288769:exon6:c.G517A:p.G173S,PDE1B:NM_001315534:exon6:c.G229A:p.G77S,PDE1B:NM_000924:exon7:c.G640A:p.G214S,PDE1B:NM_001288768:exon7:c.G229A:p.G77S",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",2E-3,"D",0.994,"D",0.979,"D",0,"D",1,"D",2.345,"M",-0.49,"T",-5.96,"D",0.819,3.979,23.6,0.999,0.989,"D",0.088,"D",0.517,"D",0.732,0,4.69,0.917,1.048,0.992,0.999,15.498,"FamilyBased&CaseControl",".","ASD","WES",".",2]
[1824,25363760,12,79296181,79296181,"C","G","DeNovo",".",".","12q21.2","exonic","SYT1",6857,".","nonsynonymous SNV","SYT1:NM_001135806:exon6:c.C587G:p.T196R,SYT1:NM_001291901:exon6:c.C578G:p.T193R,SYT1:NM_005639:exon7:c.C587G:p.T196R,SYT1:NM_001135805:exon8:c.C587G:p.T196R",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",0.999,"D",0,"D",1,"D",4.115,"H",1.58,"T",-5.71,"D",0.95,6.417,29.7,0.995,0.984,"D",0.009,"D",0.354,"T",0.706,0,5.52,0.871,0.935,1,1,19.805,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[1835,25363760,12,108518951,108518951,"G","A","DeNovo",".",".","12q23.3","exonic","FICD",11153,".","nonsynonymous SNV","FICD:NM_007076:exon3:c.G853A:p.V285I",".",".","rs143642162",{"v":4.95e-05,"d":"4.95E-05"},0.0002,0,0,0,{"v":6.01e-05,"d":"6.01E-05"},0,0,".",".",".",".",".",".",1,"T",0.163,"B",0.042,"B",0,"D",1,"D",-1.815,"N",".",".",0.65,"N",0.07,-0.093,1.784,0.671,0.963,"D",-0.901,"T",0.036,"T",0.672,0,6.02,0.917,1.048,0.915,0.309,20.136,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[1852,25363760,12,113077481,113077481,"G","A","DeNovo",".",".","12q24.13","exonic","DTX1",1840,".","nonsynonymous SNV","DTX1:NM_004416:exon2:c.G317A:p.G106D",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",2E-3,"D",1,"D",0.999,"D",0,"U",1,"D",2.815,"M",0.85,"T",-6.09,"D",0.725,5.606,26.5,0.999,0.984,"D",-0.29,"T",0.318,"T",0.767,0,2.81,0.917,0.887,1,1,12.416,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[1875,25363760,13,32341127,32341127,"G","A","DeNovo",".",".","13q13.1","exonic","BRCA2",675,".","nonsynonymous SNV","BRCA2:NM_000059:exon11:c.G6772A:p.E2258K","Fanconi anemia, complementation group D1, Autosomal recessive;Wilms tumor, Autosomal dominant, Somatic mutation","ID=COSM2071476,COSM2071475;OCCURENCE=1(urinary_tract),1(pancreas)","rs730881549",{"v":8.27e-06,"d":"8.27E-06"},0,0,0,0,{"v":1.5E-5,"d":"1.50E-05"},0,0,".","Uncertain significance","not_specified","RCV000160120.2","MedGen","CN169374",0.706,"T",0,"B",0,"B",0.308,"N",1,"N",-1.39,"N",-0.93,"T",0.14,"N",0.434,-2.541,1E-3,0.218,0.003,"N",-0.894,"T",0.089,"T",0.615,0,-6.99,-1.761,-2.213,2E-3,1E-3,8.658,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[1885,25363760,13,52687828,52687828,"A","C","DeNovo",".",".","13q14.3","exonic","SUGT1",10910,".","nonsynonymous SNV","SUGT1:NM_006704:exon13:c.A995C:p.K332T,SUGT1:NM_001130912:exon14:c.A1091C:p.K364T,SUGT1:NM_001320831:exon14:c.A827C:p.K276T",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.003,"D",0.603,"P",0.641,"P",0,"D",1,"D",1.84,"L",1.46,"T",-4.28,"D",0.549,5.107,25.3,0.998,0.989,"D",-0.904,"T",0.166,"T",0.732,0,5.88,1.062,1.199,0.999,0.995,16.282,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[1900,25363760,14,21408541,21408541,"A","G","DeNovo",".",".","14q11.2","exonic","CHD8",57680,".","nonsynonymous SNV","CHD8:NM_001170629:exon12:c.T2501C:p.L834P,CHD8:NM_020920:exon13:c.T1664C:p.L555P",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",0.998,"D",0,"D",1,"D",4.615,"H",-4.57,"D",-6.49,"D",0.994,6.086,28.2,0.999,0.991,"D",1.049,"D",0.977,"D",0.707,0,5.5,1.062,1.199,1,1,14.72,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[1913,25363760,14,35535796,35535796,"G","T","DeNovo",".",".","14q13.2","exonic","INSM2",84684,".","nonsynonymous SNV","INSM2:NM_032594:exon1:c.G1544T:p.G515V",".","ID=COSM955508;OCCURENCE=1(eye),1(pancreas),3(endometrium)","rs201878584",1.9E-3,0.0051,0.0009,0.0007,0.0005,0.0024,0.0012,1E-4,".",".",".",".",".",".",0.006,"D",0.01,"B",0.006,"B",0.088,"N",0.999,"N",0.55,"N",5.68,"T",-1.54,"N",0.228,3.642,23.2,0.969,0.043,"N",-0.892,"T",0.003,"T",0.598,0,2.94,0.917,0.953,2E-3,0.306,3.516,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[1942,25363760,14,92134115,92134115,"A","G","DeNovo",".",".","14q32.12","exonic","CPSF2",53981,".","nonsynonymous SNV","CPSF2:NM_001322270:exon4:c.A254G:p.Y85C,CPSF2:NM_001322272:exon4:c.A254G:p.Y85C,CPSF2:NM_017437:exon4:c.A254G:p.Y85C",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",1,"D",0,"D",1,"D",3.59,"H",-1.41,"T",-8.16,"D",0.974,5.944,27.6,0.998,0.992,"D",0.77,"D",0.761,"D",0.707,0,5.54,1.062,1.14,1,0.992,15.683,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[1959,25363760,14,104943876,104943876,"C","T","DeNovo",".",".","14q32.33","exonic","AHNAK2",113146,".","nonsynonymous SNV","AHNAK2:NM_001350929:exon7:c.G11275A:p.D3759N,AHNAK2:NM_138420:exon7:c.G11575A:p.D3859N",".",".",".",{"v":1.66E-5,"d":"1.66E-05"},0,0,0,0,{"v":3e-05,"d":"3.00E-05"},0,0,".",".",".",".",".",".",0.1,"T",0.989,"D",0.727,"P",".",".",1,"D",2.795,"M",4.99,"T",-1.66,"N",0.042,4.03,23.6,0.949,0.035,"N",-1.02,"T",0.015,"T",0.707,0,3.06,0.791,-0.76,0.005,0,9.045,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[1973,25363760,15,40752073,40752073,"A","T","DeNovo",".",".","15q15.1","exonic","RMDN3",55177,".","nonsynonymous SNV","RMDN3:NM_001304802:exon3:c.T293A:p.L98Q,RMDN3:NM_001323894:exon3:c.T293A:p.L98Q,RMDN3:NM_001323896:exon3:c.T293A:p.L98Q,RMDN3:NM_001323897:exon3:c.T293A:p.L98Q,RMDN3:NM_018145:exon3:c.T293A:p.L98Q",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.003,"D",0.989,"D",0.882,"P",0.015,"N",0.639,"D",2.095,"M",0.7,"T",-3.27,"D",0.751,5.256,25.7,0.995,0.854,"D",-0.215,"T",0.306,"T",0.706,0,4.21,1.062,1.194,0.998,0.998,10.626,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[1985,25363760,15,50999091,50999091,"G","T","DeNovo",".",".","15q21.2","exonic","AP4E1",23431,".","nonsynonymous SNV","AP4E1:NM_001252127:exon19:c.G2699T:p.C900F,AP4E1:NM_007347:exon19:c.G2924T:p.C975F","Spastic paraplegia 51, autosomal recessive, Autosomal recessive;Stuttering, familial persistent, 1, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.069,"T",0.003,"B",0.008,"B",0.007,"N",0.981,"D",0.805,"L",2.29,"T",-1.89,"N",0.194,1.848,15.27,0.913,0.803,"D",-1.071,"T",0.028,"T",0.651,0,3,-0.045,1.048,0.358,0.992,9.243,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[2005,25363760,15,75392508,75392508,"G","A","DeNovo",".",".","15q24.2","exonic","SIN3A",25942,".","nonsynonymous SNV","SIN3A:NM_001145357:exon15:c.C2585T:p.P862L,SIN3A:NM_001145358:exon15:c.C2585T:p.P862L,SIN3A:NM_015477:exon15:c.C2585T:p.P862L","Witteveen-Kolk syndrome, Autosomal dominant",".","rs779742094",{"v":8.24e-06,"d":"8.24E-06"},0,0,0,0,{"v":1.5E-5,"d":"1.50E-05"},0,0,".",".",".",".",".",".",0.109,"T",0.051,"B",0.01,"B",0,"D",1,"D",1.245,"L",0.87,"T",-2.65,"D",0.307,3.054,22.4,0.984,0.99,"D",-1.057,"T",0.097,"T",0.707,0,5.67,0.897,1.042,0.997,1,18.761,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[2033,25363760,16,4875418,4875418,"C","T","DeNovo",".",".","16p13.3","exonic","UBN1",29855,".","nonsynonymous SNV","UBN1:NM_001079514:exon15:c.C3008T:p.S1003L,UBN1:NM_001288656:exon15:c.C3008T:p.S1003L",".",".","rs369575874",{"v":2.57e-05,"d":"2.57E-05"},0,0,0,0,{"v":4.65e-05,"d":"4.65E-05"},0,0,".",".",".",".",".",".",0.063,"T",0.695,"P",0.116,"B",0.041,"N",0.712,"D",1.79,"L",1.38,"T",-1.4,"N",0.373,4.25,23.9,0.998,0.993,"D",-0.799,"T",0.119,"T",0.707,0,5.33,0.871,0.935,0.999,1,17.381,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[2039,25363760,16,15625646,15625646,"C","A","DeNovo",".",".","16p13.11","exonic","MARF1",9665,".","nonsynonymous SNV","MARF1:NM_001184998:exon8:c.G1676T:p.S559I,MARF1:NM_001184999:exon8:c.G1670T:p.S557I,MARF1:NM_014647:exon8:c.G1679T:p.S560I",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.099,"T",0.842,"P",0.434,"B",0,"D",1,"D",1.355,"L",0.87,"T",-1.53,"N",0.855,3.309,22.9,0.991,0.956,"D",-0.933,"T",0.127,"T",0.719,0,5.62,0.871,0.892,0.998,0.997,19.651,"FamilyBased&CaseControl",".","ASD","WES",".",2]
[2052,25363760,16,30116841,30116841,"G","A","DeNovo",".",".","16p11.2","exonic","MAPK3",5595,".","nonsynonymous SNV","MAPK3:NM_001040056:exon7:c.C1070T:p.T357M",".",".","rs61764219",{"v":1.68e-05,"d":"1.68E-05"},{"v":9.97e-05,"d":"9.97E-05"},0,0,0,0,0,{"v":6.14e-05,"d":"6.14E-05"},1.99681E-4,".",".",".",".",".",0,"D",0.174,"B",0.063,"B",".",".",1,"N",".",".",-1,"T",-0.14,"N",0.074,-0.332,0.56,0.904,0.055,"N",-0.882,"T",0.213,"T",0.706,0,-0.897,-2.302,-0.322,0,0,2.884,"FamilyBased&CaseControl",".","ASD","WES",".",2]
[2084,25363760,16,85648608,85648608,"T","C","DeNovo",".",".","16q24.1","exonic","GSE1",23199,".","nonsynonymous SNV","GSE1:NM_001278184:exon2:c.T64C:p.S22P,GSE1:NM_014615:exon3:c.T283C:p.S95P",".",".","rs777863962",0.0006,1E-4,0,0,0.0083,0.0002,0,{"v":7.29e-05,"d":"7.29E-05"},".",".",".",".",".",".",0.007,"D",0.999,"D",0.998,"D",0,"D",1,"D",1.04,"L",0.95,"T",-1.16,"N",0.657,2.142,17.13,0.979,0.921,"D",-0.707,"T",0.204,"T",0.672,0,4.33,0.991,0.9,0.99,0.913,13.51,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[2102,25363760,17,5373417,5373417,"A","G","DeNovo",".",".","17p13.2","exonic","RABEP1",9135,".","nonsynonymous SNV","RABEP1:NM_001291581:exon12:c.A1859G:p.Q620R,RABEP1:NM_001083585:exon13:c.A1988G:p.Q663R,RABEP1:NM_004703:exon13:c.A1988G:p.Q663R",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.04,"D",0.997,"D",0.989,"D",0,"D",1,"D",1.545,"L",0.8,"T",-1.22,"N",0.662,3.63,23.2,0.999,0.878,"D",-0.839,"T",0.222,"T",0.646,0,4.95,0.722,1.199,0.994,1,14.267,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[2115,25363760,17,8248011,8248011,"G","C","DeNovo",".",".","17p13.1","exonic","CTC1",80169,".","nonsynonymous SNV","CTC1:NM_025099:exon1:c.C26G:p.P9R","Cerebroretinal microangiopathy with calcifications and cysts, Autosomal recessive",".","rs377386669",{"v":2.19E-5,"d":"2.19E-05"},0,0,0,0,{"v":3.91e-05,"d":"3.91E-05"},0,0,".",".",".",".",".",".",0.008,"D",0.815,"P",0.316,"B",0.805,"N",1,"N",0.695,"N",-1.68,"D",-1.7,"N",0.112,0.934,10.27,0.989,0.029,"N",-0.715,"T",0.313,"T",0.468,2,-0.27,0.626,0.935,0.007,0.009,3.159,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[2127,25363760,17,19309972,19309972,"C","A","DeNovo",".",".","17p11.2","exonic","EPN2",22905,".","nonsynonymous SNV","EPN2:NM_148921:exon4:c.C683A:p.A228D,EPN2:NM_014964:exon5:c.C854A:p.A285D",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.051,"T",1,"D",0.999,"D",0,"D",1,"D",2.635,"M",2.22,"T",-3.95,"D",0.918,5.306,25.8,0.998,0.976,"D",-0.667,"T",0.286,"T",0.707,0,5.52,0.871,0.852,0.999,0.997,19.439,"FamilyBased&CaseControl",".","ASD","WES",".",2]
[2153,25363760,17,42023823,42023823,"C","G","DeNovo",".",".","17q21.2","exonic","NKIRAS2",28511,".","nonsynonymous SNV","NKIRAS2:NM_001001349:exon4:c.C506G:p.T169R,NKIRAS2:NM_001144927:exon4:c.C506G:p.T169R,NKIRAS2:NM_001144928:exon4:c.C338G:p.T113R,NKIRAS2:NM_017595:exon4:c.C506G:p.T169R",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.358,"T",1,"D",0.998,"D",0,"D",1,"D",1.355,"L",-1.26,"T",-2.04,"N",0.903,5.335,25.8,0.993,0.984,"D",-0.371,"T",0.51,"D",0.722,0,5.92,0.871,0.892,0.994,0.988,20.315,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[2160,25363760,17,44178299,44178299,"G","A","DeNovo",".",".","17q21.31","exonic","ASB16",92591,".","nonsynonymous SNV","ASB16:NM_080863:exon5:c.G1271A:p.G424E",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.537,"T",0.997,"D",0.927,"D",1E-3,"D",1,"D",1.905,"M",0.54,"T",-3.09,"D",0.52,3.245,22.8,0.987,0.941,"D",-0.735,"T",0.288,"T",0.646,0,5.36,0.917,1.045,2E-3,0.357,18.032,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[2185,25363760,17,64212837,64212837,"C","T","DeNovo",".",".","17q23.3","exonic","TEX2",55852,".","nonsynonymous SNV","TEX2:NM_001288732:exon2:c.G1381A:p.E461K,TEX2:NM_001288733:exon2:c.G1381A:p.E461K,TEX2:NM_018469:exon2:c.G1381A:p.E461K",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.007,"D",0.984,"D",0.707,"P",0,"D",1,"D",2.095,"M",0.82,"T",-1.09,"N",0.57,2.283,18.05,0.907,0.99,"D",-0.681,"T",0.245,"T",0.706,0,6.11,0.871,0.06,0.144,0.026,20.734,"FamilyBased&CaseControl",".","ASD","WES",".",2]
[2196,25363760,17,75571951,75571951,"G","A","DeNovo",".",".","17q25.1","exonic","LLGL2",3993,".","nonsynonymous SNV","LLGL2:NM_001031803:exon19:c.G2347A:p.D783N,LLGL2:NM_004524:exon19:c.G2347A:p.D783N",".",".","rs769989122",{"v":8.49E-6,"d":"8.49E-06"},0,0,0,0,{"v":1.55e-05,"d":"1.55E-05"},0,0,".",".",".",".",".",".",0.003,"D",1,"D",1,"D",0,"D",1,"D",2.755,"M",-0.43,"T",-4.7,"D",0.286,7.386,34,0.996,0.989,"D",0.204,"D",0.546,"D",0.696,0,5.29,0.917,1.045,0.983,0.939,18.917,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[2229,25363760,18,57704638,57704638,"C","T","DeNovo",".",".","18q21.31","exonic","ATP8B1",5205,".","nonsynonymous SNV","ATP8B1:NM_005603:exon4:c.G310A:p.A104T","Cholestasis, benign recurrent intrahepatic, Autosomal recessive;Cholestasis, intrahepatic, of pregnancy, 1, Autosomal dominant;Cholestasis, progressive familial intrahepatic 1, Autosomal recessive",".","rs756439394",{"v":8.4e-05,"d":"8.40E-05"},0,0,0,0,1E-4,0,{"v":6.19E-5,"d":"6.19E-05"},".",".",".",".",".",".",0.021,"D",0.031,"B",0.01,"B",0.284,"N",1,"N",1.485,"L",0.9,"T",-0.27,"N",0.138,3.107,22.5,0.994,0.588,"D",-1.005,"T",0.089,"T",0.635,0,4.25,0.871,0.927,0.964,0.882,6.346,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[2256,25363760,19,8302903,8302903,"T","C","DeNovo",".",".","19p13.2","exonic","CD320",51293,".","nonsynonymous SNV","CD320:NM_001165895:exon3:c.A454G:p.R152G,CD320:NM_016579:exon4:c.A580G:p.R194G","Methylmalonic aciduria, transient, due to transcobalamin receptor defect",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.175,"T",1E-3,"B",2E-3,"B",".",".",1,"N",0.805,"L",-3.04,"D",-0.84,"N",0.095,0.684,8.725,0.829,0.016,"N",-0.276,"T",0.657,"D",0.707,0,-4.77,0.062,-1.448,0.381,0.426,1.283,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[2278,25363760,19,17195367,17195367,"C","T","DeNovo",".",".","19p13.11","exonic","MYO9B",4650,".","nonsynonymous SNV","MYO9B:NM_001130065:exon22:c.C3940T:p.R1314W,MYO9B:NM_004145:exon22:c.C3940T:p.R1314W",".",".","rs529914298",1E-4,0.0006,0.0002,0,0,{"v":7.04e-05,"d":"7.04E-05"},0,{"v":6.37e-05,"d":"6.37E-05"},0.000399361,".",".",".",".",".",1E-3,"D",1,"D",0.947,"D",2E-3,"N",0.728,"D",1.905,"M",-2.03,"D",-3.94,"D",0.489,6.013,27.9,0.998,0.746,"D",0.333,"D",0.638,"D",0.672,0,0.461,-0.058,0.852,0.847,0.309,8.81,"FamilyBased&CaseControl",".","ASD","WES",".",2]
[2294,25363760,19,35346201,35346201,"C","T","DeNovo",".",".","19q13.12","exonic","CD22",933,".","nonsynonymous SNV","CD22:NM_001185101:exon11:c.C1847T:p.T616M,CD22:NM_001185099:exon12:c.C2114T:p.T705M,CD22:NM_001278417:exon12:c.C1862T:p.T621M,CD22:NM_001771:exon13:c.C2378T:p.T793M",".","ID=COSM1190004;OCCURENCE=1(lung)","rs200771320",0.0002,{"v":9.66e-05,"d":"9.66E-05"},0,0,0.0002,0.0002,0,0.0007,".",".",".",".",".",".",0.067,"T",0.965,"D",0.584,"P",0.897,"N",1,"N",2.015,"M",1,"T",-1.02,"N",0.075,0.879,9.942,0.966,0.031,"N",-0.899,"T",0.171,"T",0.731,0,-1.79,-0.064,0.042,0.006,0.003,3.835,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[2310,25363760,19,41906020,41906020,"G","A","DeNovo",".",".","19q13.2","exonic","ARHGEF1",9138,".","nonsynonymous SNV","ARHGEF1:NM_198977:exon25:c.G2387A:p.R796Q,ARHGEF1:NM_004706:exon26:c.G2486A:p.R829Q,ARHGEF1:NM_199002:exon26:c.G2531A:p.R844Q",".",".","rs782226783",{"v":1.67e-05,"d":"1.67E-05"},0,0,0,0,{"v":3.04E-5,"d":"3.04E-05"},0,0,".",".",".",".",".",".",1,"T",0.014,"B",2E-3,"B",0.372,"N",1,"N",-0.46,"N",0.25,"T",0.28,"N",0.039,2.509,19.52,0.559,0.008,"N",-1.027,"T",0.086,"T",0.707,0,-0.29,0.042,-0.104,0.677,0.994,6.609,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[2325,25363760,19,47416824,47416824,"T","C","DeNovo",".",".","19q13.32","exonic","MEIS3",56917,".","nonsynonymous SNV","MEIS3:NM_001009813:exon3:c.A325G:p.I109V,MEIS3:NM_001301059:exon3:c.A325G:p.I109V,MEIS3:NM_001346148:exon3:c.A316G:p.I106V,MEIS3:NM_020160:exon3:c.A325G:p.I109V",".",".","rs762219288",{"v":8.36e-06,"d":"8.36E-06"},0,{"v":8.72e-05,"d":"8.72E-05"},0,0,0,0,0,".",".",".",".",".",".",0.135,"T",0.575,"P",0.244,"B",0,"D",1,"D",-1.1,"N",1.38,"T",-0.74,"N",0.488,1.896,15.57,0.997,0.976,"D",-1.042,"T",0.032,"T",0.61,0,3.43,0.991,0.895,0.968,0.991,10.525,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[2346,25363760,20,3694749,3694749,"G","A","DeNovo",".",".","20p13","exonic","SIGLEC1",6614,".","nonsynonymous SNV","SIGLEC1:NM_023068:exon11:c.C2858T:p.T953I",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.186,"T",0.85,"P",0.485,"P",0.513,"N",1,"N",2.01,"M",2.58,"T",-1.48,"N",0.106,1.305,12.3,0.997,0.011,"N",-1.062,"T",0.034,"T",0.403,0,-2.91,-0.604,-0.119,0.015,0.876,1.454,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[2357,25363760,20,31862686,31862686,"G","A","DeNovo",".",".","20q11.21","exonic","DUSP15",128853,".","nonsynonymous SNV","DUSP15:NM_001012644:exon6:c.C11T:p.T4M,DUSP15:NM_001320478:exon6:c.C311T:p.T104M,DUSP15:NM_001320479:exon6:c.C311T:p.T104M,DUSP15:NM_080611:exon6:c.C320T:p.T107M,DUSP15:NM_177991:exon6:c.C11T:p.T4M",".",".","rs145115468",0.0003,0.0002,0.0003,1E-4,0,0.0003,0,0.0007,1.99681E-4,".",".",".",".",".",0.244,"T",1,"D",0.998,"D",0,"D",1,"D",2.22,"M",1.59,"T",-5.39,"D",0.511,6.632,32,0.999,0.985,"D",-0.424,"T",0.36,"T",0.516,0,4.92,0.917,1.048,0.973,0.995,14.856,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[2402,25363760,22,17181927,17181927,"C","T","DeNovo",".",".","22q11.1","exonic","ADA2",51816,".","nonsynonymous SNV","ADA2:NM_177405:exon6:c.G612A:p.M204I,ADA2:NM_001282229:exon8:c.G975A:p.M325I,ADA2:NM_001282225:exon9:c.G1335A:p.M445I,ADA2:NM_001282226:exon9:c.G1335A:p.M445I,ADA2:NM_001282227:exon9:c.G1209A:p.M403I,ADA2:NM_001282228:exon9:c.G1209A:p.M403I","Polyarteritis nodosa, childhood-onset, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.959,"T",0,"B",0,"B",0.809,"N",1,"N",-0.6,"N",-3.6,"D",0.33,"N",0.057,-1.704,2E-3,0.307,0.449,"N",-0.4,"T",0.478,"T",0.706,0,-4.09,-0.743,-0.552,0.972,0.395,11.337,"FamilyBased&CaseControl",".","ASD","WES",".",2]
[2423,25363760,22,30555577,30555577,"G","C","DeNovo",".",".","22q12.2","exonic","GAL3ST1",9514,".","nonsynonymous SNV","GAL3ST1:NM_001318103:exon3:c.C648G:p.N216K,GAL3ST1:NM_001318105:exon3:c.C648G:p.N216K,GAL3ST1:NM_001318109:exon3:c.C723G:p.N241K,GAL3ST1:NM_001318111:exon3:c.C648G:p.N216K,GAL3ST1:NM_001318112:exon3:c.C648G:p.N216K,GAL3ST1:NM_001318114:exon3:c.C651G:p.N217K,GAL3ST1:NM_001318104:exon4:c.C648G:p.N216K,GAL3ST1:NM_001318106:exon4:c.C648G:p.N216K,GAL3ST1:NM_001318107:exon4:c.C651G:p.N217K,GAL3ST1:NM_001318108:exon4:c.C648G:p.N216K,GAL3ST1:NM_001318110:exon4:c.C648G:p.N216K,GAL3ST1:NM_001318113:exon4:c.C648G:p.N216K,GAL3ST1:NM_001318115:exon4:c.C648G:p.N216K,GAL3ST1:NM_004861:exon4:c.C648G:p.N216K,GAL3ST1:NM_001318116:exon5:c.C648G:p.N216K",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",0.998,"D",0.974,"D",0,"D",1,"D",3.735,"H",1.95,"T",-5.75,"D",0.474,5.578,26.5,0.998,0.977,"D",-0.337,"T",0.235,"T",0.632,0,5.36,0.917,0.998,0.999,1,18.663,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[2430,25363760,22,37507936,37507936,"C","G","DeNovo",".",".","22q13.1","exonic","CARD10",29775,".","nonsynonymous SNV","CARD10:NM_014550:exon6:c.G1084C:p.D362H",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.005,"D",0.966,"D",0.573,"P",1E-3,"D",0.833,"N",1.845,"L",-1.2,"T",-3.41,"D",0.495,4.81,24.8,0.994,0.982,"D",-0.175,"T",0.467,"T",0.707,0,4.33,0.871,0.932,0.997,0.997,12.113,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[3866,25363768,1,5927684,5927684,"C","T","DeNovo",".",".","1p36.31","exonic","NPHP4",261734,".","nonsynonymous SNV","NPHP4:NM_001291594:exon9:c.G40A:p.G14S,NPHP4:NM_001291593:exon10:c.G40A:p.G14S,NPHP4:NM_015102:exon11:c.G1406A:p.R469Q","Nephronophthisis 4, Autosomal recessive;Senior-Loken syndrome 4, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.325,"T",0.685,"P",0.091,"B",0.763,"N",1,"N",1.39,"L",-2.17,"D",-0.16,"N",0.051,0.905,10.1,0.963,0.028,"N",-0.698,"T",0.318,"T",0.651,0,-2.91,-0.064,0.066,0.005,1E-3,0.084,"FamilyBased",".","ASD","WES",".","."]
[3881,25363768,1,12368575,12368575,"T","C","DeNovo",".",".","1p36.22","exonic","VPS13D",55187,".","nonsynonymous SNV","VPS13D:NM_018156:exon52:c.T10481C:p.I3494T,VPS13D:NM_015378:exon53:c.T10556C:p.I3519T",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.998,"D",0.976,"D",0,"D",1,"D",2.545,"M",".",".",".",".",0.923,6.252,28.9,0.999,0.98,"D",-0.347,"T",0.327,"T",0.706,0,6.04,0.991,1.056,1,1,16.298,"FamilyBased",".","ASD","WES",".","."]
[3896,25363768,1,19112851,19112851,"C","T","DeNovo",".",".","1p36.13","exonic","UBR4",23352,".","nonsynonymous SNV","UBR4:NM_020765:exon78:c.G11474A:p.R3825H",".",".","rs766950470",{"v":8.57e-06,"d":"8.57E-06"},0,0,1E-4,0,0,0,0,".",".",".",".",".",".",1E-3,"D",0.998,"D",0.964,"D",0,"D",1,"D",2.12,"M",1.27,"T",-4.49,"D",0.948,7.685,35,0.999,0.983,"D",-0.693,"T",0.225,"T",0.707,0,5.5,0.871,0.935,0.961,0.914,17.958,"FamilyBased",".","ASD","WES",".","."]
[3932,25363768,1,27550575,27550575,"G","A","DeNovo",".",".","1p36.11","exonic","AHDC1",27245,".","nonsynonymous SNV","AHDC1:NM_001029882:exon6:c.C1541T:p.S514L","Xia-Gibbs syndrome, Autosomal dominant",".","rs575850241",{"v":2.5e-05,"d":"2.50E-05"},{"v":9.79e-05,"d":"9.79E-05"},{"v":8.69e-05,"d":"8.69E-05"},1E-4,0,0,0,0,1.99681E-4,".",".",".",".",".",0.004,"D",0.128,"B",0.041,"B",0.012,"U",0.787,"N",0,"N",0.74,"T",-1.9,"N",0.772,3.444,23,0.996,0.903,"D",-0.974,"T",0.086,"T",0.696,0,6.07,0.917,1.048,0.696,0.568,19.415,"FamilyBased",".","ASD","WES",".","."]
[3950,25363768,1,32324536,32324536,"C","T","DeNovo",".",".","1p35.1","exonic","HDAC1",3065,".","nonsynonymous SNV","HDAC1:NM_004964:exon4:c.C338T:p.S113F",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.093,"T",1,"D",1,"D",0,"D",1,"D",3.935,"H",-0.89,"T",-5.18,"D",0.99,7.129,34,0.998,0.996,"D",0.701,"D",0.726,"D",0.722,0,5.2,0.871,0.852,0.931,1,19.134,"FamilyBased",".","ASD","WES",".","."]
[3984,25363768,1,43428116,43428116,"G","A","DeNovo",".",".","1p34.2","exonic","SZT2",23334,".","nonsynonymous SNV","SZT2:NM_015284:exon26:c.G3746A:p.R1249H","Epileptic encephalopathy, early infantile, 18, Autosomal recessive",".","rs749624486",{"v":1.65e-05,"d":"1.65E-05"},0,0,0,0,{"v":3e-05,"d":"3.00E-05"},0,0,".",".",".",".",".",".",0.127,"T",0.999,"D",0.891,"P",1E-3,"D",0.957,"N",0.69,"N",".",".",-1.21,"N",0.581,5.996,27.8,0.997,0.874,"D",-1.022,"T",0.1,"T",0.672,0,5.18,0.917,0.953,0.957,0.99,6.736,"FamilyBased",".","ASD","WES",".","."]
[3989,25363768,1,43606358,43606358,"G","A","DeNovo",".",".","1p34.2","exonic","PTPRF",5792,".","nonsynonymous SNV","PTPRF:NM_001329140:exon17:c.G2690A:p.G897E,PTPRF:NM_001329139:exon18:c.G2717A:p.G906E,PTPRF:NM_130440:exon19:c.G3575A:p.G1192E,PTPRF:NM_001329137:exon20:c.G2735A:p.G912E,PTPRF:NM_002840:exon20:c.G3602A:p.G1201E,PTPRF:NM_001329138:exon21:c.G2747A:p.G916E",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1E-3,"D",0.999,"D",0.983,"D",0.004,"N",1,"D",2.685,"M",2.5,"T",-6.12,"D",0.602,5.102,25.3,0.996,0.995,"D",-0.311,"T",0.321,"T",0.707,0,4.28,0.917,1.032,0.997,0.991,13.807,"FamilyBased",".","ASD","WES",".","."]
[4031,25363768,1,59321658,59321658,"G","T","DeNovo",".",".","1p32.1","exonic","FGGY",55277,".","nonsynonymous SNV","FGGY:NM_001113411:exon2:c.G109T:p.A37S,FGGY:NM_001244714:exon2:c.G109T:p.A37S,FGGY:NM_001350790:exon2:c.G109T:p.A37S,FGGY:NM_001350791:exon2:c.G109T:p.A37S,FGGY:NM_001350794:exon2:c.G109T:p.A37S,FGGY:NM_001350795:exon2:c.G109T:p.A37S,FGGY:NM_018291:exon2:c.G109T:p.A37S",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.23,"T",0.488,"P",0.438,"B",0,"D",0.998,"N",1.785,"L",0.8,"T",-1.97,"N",0.332,4.534,24.3,0.997,0.964,"D",-0.937,"T",0.152,"T",0.706,0,4.28,0.917,0.953,0.335,0.992,8.792,"FamilyBased",".","ASD","WES",".","."]
[4059,25363768,1,85022319,85022319,"C","T","DeNovo",".",".","1p22.3","exonic","MCOLN3",55283,".","nonsynonymous SNV","MCOLN3:NM_001253693:exon9:c.G1009A:p.G337S,MCOLN3:NM_018298:exon10:c.G1177A:p.G393S",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.177,"T",0.386,"B",0.1,"B",0,"N",1,"D",1.2,"L",-0.26,"T",-1.78,"N",0.254,3.432,23,0.99,0.921,"D",-1.044,"T",0.089,"T",0.615,0,3.83,0.824,0.935,0.992,0.904,10.778,"FamilyBased",".","ASD","WES",".","."]
[4074,25363768,1,93115081,93115081,"C","T","DeNovo",".",".","1p22.1","exonic","MTF2",22823,".","nonsynonymous SNV","MTF2:NM_001164393:exon3:c.C170T:p.T57I,MTF2:NM_001164392:exon5:c.C476T:p.T159I,MTF2:NM_007358:exon5:c.C476T:p.T159I,MTF2:NM_001164391:exon6:c.C170T:p.T57I",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.065,"T",0.793,"P",0.269,"B",1E-3,"N",0.999,"D",1.15,"L",-2.26,"D",-1.55,"N",0.418,3.968,23.6,0.998,0.884,"D",-0.046,"T",0.426,"T",0.707,0,5.35,0.871,0.935,1,0.999,19.077,"FamilyBased",".","ASD","WES",".","."]
[4090,25363768,1,109199954,109199954,"G","A","DeNovo",".",".","1p13.3","exonic","KIAA1324",57535,".","nonsynonymous SNV","KIAA1324:NM_001284353:exon12:c.G1588A:p.V530I,KIAA1324:NM_001267048:exon17:c.G2341A:p.V781I,KIAA1324:NM_001284352:exon18:c.G2296A:p.V766I,KIAA1324:NM_020775:exon19:c.G2602A:p.V868I",".",".","rs375869677",{"v":2.47e-05,"d":"2.47E-05"},{"v":9.61e-05,"d":"9.61E-05"},{"v":8.64e-05,"d":"8.64E-05"},0,0,{"v":1.5E-5,"d":"1.50E-05"},0,0,".",".",".",".",".",".",0.436,"T",0.134,"B",0.039,"B",2E-3,"N",0.673,"N",0.805,"L",2.74,"T",-0.8,"N",0.22,1.154,11.51,0.868,0.356,"N",-0.918,"T",0.007,"T",0.615,0,-2.52,0.069,0.126,0.99,0.923,7.889,"FamilyBased",".","ASD","WES",".","."]
[4121,25363768,1,119511592,119511592,"A","G","DeNovo",".",".","1p12","exonic","HSD3B1",3283,".","nonsynonymous SNV","HSD3B1:NM_000862:exon3:c.A235G:p.I79V,HSD3B1:NM_001328615:exon3:c.A235G:p.I79V",".",".","rs6201",0.0482,0.33,0.0794,0.0412,0.0002,0.003,0.0363,0.0557,0.136581,".",".",".",".",".",1,"T",0,"B",1E-3,"B",0,"N",1,"P",-1.72,"N",-1.46,"T",0.7,"N",0.201,-2.148,1E-3,0.168,0.028,"N",-0.998,"T",0.045,"T",0.487,0,0.153,-0.016,-0.077,0.858,0.047,7.304,"FamilyBased",".","ASD","WES",".","."]
[4140,25363768,1,150559318,150559318,"G","A","DeNovo",".",".","1q21.2","exonic","ADAMTSL4",54507,".","nonsynonymous SNV","ADAMTSL4:NM_019032:exon17:c.G2795A:p.R932H,ADAMTSL4:NM_001288607:exon18:c.G2678A:p.R893H,ADAMTSL4:NM_001288608:exon18:c.G2864A:p.R955H","Ectopia lentis et pupillae, Autosomal recessive;Ectopia lentis, isolated, autosomal recessive, Autosomal recessive",".","rs202037366",1E-4,0,0,0.0003,0,0.0002,0,{"v":6.07e-05,"d":"6.07E-05"},1.99681E-4,"Uncertain significance","Ectopia_lentis","RCV000295340.1","MedGen:Orphanet:SNOMED_CT","C0013581:ORPHA1885:74969002",0.64,"T",0.165,"B",0.036,"B",".",".",0.667,"N",1.16,"L",0.64,"T",-0.97,"N",0.238,2.661,20.6,0.974,0.689,"D",-1.078,"T",0.038,"T",0.635,0,2.6,0.034,0.091,0.969,0.73,7.155,"FamilyBased",".","ASD","WES",".","."]
[4166,25363768,1,153003241,153003241,"G","C","DeNovo",".",".","1q21.3","exonic","SPRR3",6707,".","nonsynonymous SNV","SPRR3:NM_001097589:exon2:c.G221C:p.C74S,SPRR3:NM_005416:exon3:c.G221C:p.C74S",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.398,"T",0.01,"B",0.013,"B",".",".",1,"N",0.55,"N",2.72,"T",1.39,"N",0.34,-1.61,2E-3,0.326,0.013,"N",-0.915,"T",0.006,"T",0.487,0,-3.63,-0.838,-1.505,0,0,10.216,"FamilyBased",".","ASD","WES",".","."]
[4210,25363768,1,159313933,159313933,"C","T","DeNovo",".",".","1q23.2","exonic","OR10J3",441911,".","nonsynonymous SNV","OR10J3:NM_001004467:exon1:c.G727A:p.A243T",".","ID=COSM898007;OCCURENCE=1(endometrium)","rs762786872",{"v":3.3e-05,"d":"3.30E-05"},0,0,0.0002,0,{"v":1.5E-5,"d":"1.50E-05"},0,{"v":6.06e-05,"d":"6.06E-05"},".",".",".",".",".",".",0.011,"D",0.478,"P",0.365,"B",0.095,"N",0.845,"N",1.41,"L",1.23,"T",-3.06,"D",0.105,4.341,24,0.988,0.19,"N",-1.078,"T",0.046,"T",0.487,0,3.49,0.871,-1.639,0.998,0.141,10.167,"FamilyBased",".","ASD","WES",".","."]
[4233,25363768,1,171579837,171579837,"G","A","DeNovo",".",".","1q24.3","exonic","PRRC2C",23215,".","nonsynonymous SNV","PRRC2C:NM_015172:exon28:c.G7276A:p.V2426I",".",".","rs766917049",{"v":8.84e-06,"d":"8.84E-06"},0,0,1E-4,0,0,0,0,".",".",".",".",".",".",0.059,"T",0.996,"D",0.99,"D",1E-3,"N",1,"D",0.41,"N",4.36,"T",-0.51,"N",0.311,3.283,22.8,0.967,0.997,"D",-0.492,"T",0.009,"T",0.707,0,5.26,0.917,0.902,0.998,1,17.047,"FamilyBased",".","ASD","WES",".","."]
[4256,25363768,1,182883530,182883530,"G","A","DeNovo",".",".","1q25.3","exonic","DHX9",1660,".","nonsynonymous SNV","DHX9:NM_001357:exon26:c.G3155A:p.R1052Q",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.128,"T",0.989,"D",0.752,"P",0,"D",1,"D",1.79,"L",0.16,"T",-2.36,"N",0.78,6.774,32,0.999,0.974,"D",-0.617,"T",0.289,"T",0.707,0,5.39,0.917,0.949,0.999,0.997,18.775,"FamilyBased",".","ASD","WES",".","."]
[4272,25363768,1,196282325,196282325,"G","A","DeNovo",".",".","1q31.3","exonic","KCNT2",343450,".","nonsynonymous SNV","KCNT2:NM_001287820:exon22:c.C2507T:p.T836M,KCNT2:NM_001287819:exon23:c.C2657T:p.T886M,KCNT2:NM_198503:exon24:c.C2729T:p.T910M",".",".","rs778812768",{"v":1.65e-05,"d":"1.65E-05"},0,0,0,0.0002,{"v":1.5E-5,"d":"1.50E-05"},0,0,".",".",".",".",".",".",0.06,"T",0.978,"D",0.81,"P",0,"D",1,"D",2.015,"M",-0.92,"T",-1.13,"N",0.622,6.86,33,0.998,0.958,"D",-0.133,"T",0.517,"D",0.651,0,6.16,0.917,1.048,1,0.997,19.631,"FamilyBased",".","ASD","WES",".","."]
[4284,25363768,1,201899899,201899899,"C","T","DeNovo",".",".","1q32.1","exonic","LMOD1",25802,".","nonsynonymous SNV","LMOD1:NM_012134:exon2:c.G1114A:p.D372N",".",".","rs199860756",0.0009,0,{"v":8.73e-05,"d":"8.73E-05"},0,0.0131,0.0003,0.0045,0,1.99681E-4,".",".",".",".",".",0.289,"T",1,"D",0.998,"D",1E-3,"D",1,"D",0.81,"L",-3.04,"D",-4.62,"D",0.118,5.617,26.6,0.999,0.981,"D",0.536,"D",0.763,"D",0.615,0,4.64,0.791,0.75,0.997,0.022,15.013,"FamilyBased",".","ASD","WES",".","."]
[4307,25363768,1,205523175,205523175,"T","C","DeNovo",".",".","1q32.1","exonic","CDK18",5129,".","nonsynonymous SNV","CDK18:NM_002596:exon2:c.T8C:p.M3T,CDK18:NM_212502:exon2:c.T8C:p.M3T,CDK18:NM_212503:exon2:c.T8C:p.M3T",".",".","rs201892426",".",".",".",".",".",".",".",".",".",".",".",".",".",".",2E-3,"D",0.996,"D",0.888,"P",0,"D",1,"D",".",".",0.92,"T",-1.73,"N",0.893,5.387,26,0.987,0.956,"D",0.145,"D",0.527,"D",0.706,0,4.97,0.991,1.061,0.998,0.957,13.623,"FamilyBased",".","ASD","WES",".","."]
[4334,25363768,1,220157455,220157455,"C","G","DeNovo",".",".","1q41","exonic","RAB3GAP2",25782,".","nonsynonymous SNV","RAB3GAP2:NM_012414:exon31:c.G3370C:p.V1124L","Martsolf syndrome, Autosomal recessive;Warburg micro syndrome 2, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.287,"T",1E-3,"B",0.004,"B",0.014,"N",0.857,"D",0.625,"N",1.51,"T",-1.04,"N",0.081,2.407,18.86,0.974,0.763,"D",-1.046,"T",0.045,"T",0.722,0,4.56,0.871,0.852,0.986,0.958,9.667,"FamilyBased",".","ASD","WES",".","."]
[4351,25363768,1,227817400,227817400,"C","T","DeNovo",".",".","1q42.13","exonic","PRSS38",339501,".","nonsynonymous SNV","PRSS38:NM_183062:exon3:c.C503T:p.P168L",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",2E-3,"D",1,"D",1,"D",1E-3,"D",1,"D",2.885,"M",-0.3,"T",-9.91,"D",0.936,5.917,27.5,0.999,0.723,"D",0.091,"D",0.507,"D",0.487,0,4.34,0.871,0.935,0.004,0.035,12.671,"FamilyBased",".","ASD","WES",".","."]
[4389,25363768,1,247451960,247451960,"A","G","DeNovo",".",".","1q44","exonic","OR2B11",127623,".","nonsynonymous SNV","OR2B11:NM_001004492:exon1:c.T23C:p.F8S",".",".","rs753431625",{"v":8.45e-05,"d":"8.45E-05"},0,0,0,0,0,0,0.0008,".",".",".",".",".",".",0.335,"T",1E-3,"B",1E-3,"B",0.342,"N",1,"N",0,"N",1.27,"T",0.78,"N",0.096,-1.593,2E-3,0.637,0.021,"N",-1.045,"T",0.042,"T",0.487,0,-0.489,-0.226,-0.209,0.014,0.01,4.288,"FamilyBased",".","ASD","WES",".","."]
[4405,25363768,2,9481403,9481403,"C","T","DeNovo",".",".","2p25.1","exonic","IAH1",285148,".","nonsynonymous SNV","IAH1:NM_001320859:exon3:c.C62T:p.T21I,IAH1:NM_001320860:exon3:c.C62T:p.T21I,IAH1:NM_001039613:exon4:c.C401T:p.T134I,IAH1:NM_001320858:exon4:c.C326T:p.T109I,IAH1:NM_001320863:exon4:c.C62T:p.T21I",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.003,"D",0.007,"B",0.007,"B",0,"D",0.965,"D",0.345,"N",2.73,"T",-1.96,"N",0.259,3.752,23.3,0.985,0.973,"D",-1.049,"T",0.029,"T",0.646,0,5.75,0.871,0.935,0.152,0.19,19.934,"FamilyBased",".","ASD","WES",".","."]
[4428,25363768,2,26285519,26285519,"G","A","DeNovo",".",".","2p23.3","exonic","HADHB",3032,".","nonsynonymous SNV","HADHB:NM_001281512:exon14:c.G1292A:p.R431Q,HADHB:NM_000183:exon15:c.G1337A:p.R446Q,HADHB:NM_001281513:exon16:c.G1271A:p.R424Q","Trifunctional protein deficiency, Autosomal recessive",".","rs368451226",{"v":2.48E-5,"d":"2.48E-05"},0,0,0,0,{"v":4.5e-05,"d":"4.50E-05"},0,0,".",".",".",".",".",".",0.576,"T",0.007,"B",0.004,"B",1E-3,"N",0.874,"D",0.165,"N",-3,"D",0.14,"N",0.065,3.375,22.9,0.98,0.777,"D",-0.452,"T",0.468,"T",0.707,0,2.64,0.917,-0.254,0.962,0.973,7.008,"FamilyBased",".","ASD","WES",".","."]
[4448,25363768,2,29036740,29036740,"C","T","DeNovo",".",".","2p23.2","exonic","TOGARAM2",165186,".","nonsynonymous SNV","TOGARAM2:NM_001321539:exon14:c.C2045T:p.A682V,TOGARAM2:NM_001321538:exon17:c.C2453T:p.A818V,TOGARAM2:NM_199280:exon18:c.C2618T:p.A873V",".",".","rs150485801",1E-4,0,0,1E-4,0,{"v":8.52e-05,"d":"8.52E-05"},0,0.0004,".",".",".",".",".",".",0.062,"T",0.141,"B",0.016,"B",0.066,"N",1,"N",2.16,"M",2.28,"T",-2.98,"D",0.142,1.34,12.48,0.911,0.195,"N",-1.04,"T",0.043,"T",0.554,0,0.118,0.871,-2.826,0.969,0,10.936,"FamilyBased",".","ASD","WES",".","."]
[4469,25363768,2,36894009,36894009,"C","T","DeNovo",".",".","2p22.2","exonic","STRN",6801,".","nonsynonymous SNV","STRN:NM_003162:exon7:c.G820A:p.D274N",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.071,"T",0.995,"D",0.894,"P",0,"D",1,"D",2.165,"M",-0.23,"T",-2.32,"N",0.064,3.59,23.2,0.999,0.986,"D",-0.099,"T",0.442,"T",0.707,0,4.84,0.871,0.852,0.997,0.997,16.745,"FamilyBased",".","ASD","WES",".","."]
[4496,25363768,2,53765500,53765500,"C","G","DeNovo",".",".","2p16.2","exonic","ASB3;GPR75-ASB3","51130;100302652",".","nonsynonymous SNV","GPR75-ASB3:NM_001164165:exon2:c.G187C:p.V63L,ASB3:NM_016115:exon2:c.G73C:p.V25L",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.307,"T",0.046,"B",0.111,"B",0.784,"N",".",".",1.02,"L",-0.23,"T",-0.79,"N",0.347,0.748,9.136,0.905,0.066,"N",-0.909,"T",0.164,"T",0.732,0,-2.52,-0.379,-0.294,0.963,0.99,4.77,"FamilyBased",".","ASD","WES",".","."]
[4510,25363768,2,61333913,61333913,"C","T","DeNovo",".",".","2p15","exonic","USP34",9736,".","nonsynonymous SNV","USP34:NM_014709:exon19:c.G2803A:p.G935R",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.709,"T",1,"D",0.997,"D",0,"D",1,"D",-0.425,"N",4.1,"T",-0.09,"N",0.856,2.849,21.6,0.998,0.993,"D",-0.614,"T",0.013,"T",0.732,0,5.85,0.871,0.931,0.997,0.999,20.171,"FamilyBased",".","ASD","WES",".","."]
[4530,25363768,2,73734555,73734555,"A","T","DeNovo",".",".","2p13.1","exonic","TPRKB",51002,".","nonsynonymous SNV","TPRKB:NM_001330386:exon2:c.T15A:p.H5Q,TPRKB:NM_001330387:exon2:c.T15A:p.H5Q,TPRKB:NM_001330389:exon2:c.T15A:p.H5Q,TPRKB:NM_001330391:exon2:c.T15A:p.H5Q,TPRKB:NM_001330392:exon2:c.T15A:p.H5Q,TPRKB:NM_016058:exon2:c.T15A:p.H5Q,TPRKB:NM_001330388:exon3:c.T15A:p.H5Q",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.274,"T",0.035,"B",0.008,"B",0.018,"N",0.703,"N",0.44,"N",1.03,"T",-1.77,"N",0.097,0.607,8.206,0.901,0.735,"D",-1.07,"T",0.049,"T",0.732,0,1.42,0.804,0.107,0.996,0.968,3.436,"FamilyBased",".","ASD","WES",".","."]
[4582,25363768,2,112116132,112116132,"A","G","DeNovo",".",".","2q13","exonic","TMEM87B",84910,".","nonsynonymous SNV","TMEM87B:NM_001329914:exon19:c.A1657G:p.K553E,TMEM87B:NM_032824:exon19:c.A1657G:p.K553E",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",0.993,"D",0.971,"D",0,"D",0.552,"D",1.795,"L",".",".",-0.66,"N",0.631,6.194,28.6,0.999,0.889,"D",-0.251,"T",0.289,"T",0.732,0,5.81,1.062,1.184,1,1,12.544,"FamilyBased",".","ASD","WES",".","."]
[4600,25363768,2,128180987,128180987,"G","A","DeNovo",".",".","2q14.3","exonic","UGGT1",56886,".","nonsynonymous SNV","UGGT1:NM_020120:exon36:c.G3998A:p.R1333H",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",0.999,"D",0,"D",1,"D",3.92,"H",0.92,"T",-4.84,"D",0.931,6.67,32,0.999,0.992,"D",0.107,"D",0.422,"T",0.722,0,5.48,0.917,0.998,0.997,0.93,19.714,"FamilyBased",".","ASD","WES",".","."]
[4625,25363768,2,156329364,156329364,"A","G","DeNovo",".",".","2q24.1","exonic","NR4A2",4929,".","nonsynonymous SNV","NR4A2:NM_006186:exon3:c.T823C:p.Y275H",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",1,"D",0,"D",1,"D",4.275,"H",-5.07,"D",-4.54,"D",0.899,5.115,25.4,0.997,0.989,"D",1.028,"D",0.983,"D",0.765,0,5.91,1.062,1.199,1,1,16.348,"FamilyBased",".","ASD","WES",".","."]
[4643,25363768,2,162226546,162226546,"G","A","DeNovo",".",".","2q24.2","exonic","FAP",2191,".","nonsynonymous SNV","FAP:NM_001291807:exon3:c.C167T:p.T56I,FAP:NM_004460:exon3:c.C167T:p.T56I",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.157,"T",0.612,"P",0.157,"B",0,"D",1,"D",2.215,"M",1.89,"T",-2.74,"D",0.813,3.032,22.3,0.997,0.968,"D",0.656,"D",0.785,"D",0.554,0,5.14,0.917,0.998,1,1,18.549,"FamilyBased",".","ASD","WES",".","."]
[4659,25363768,2,165991561,165991561,"G","A","DeNovo",".",".","2q24.3","exonic","SCN1A",6323,".","nonsynonymous SNV","SCN1A:NM_001165963:exon26:c.C5714T:p.P1905L,SCN1A:NM_001165964:exon26:c.C5630T:p.P1877L,SCN1A:NM_006920:exon26:c.C5681T:p.P1894L,SCN1A:NM_001202435:exon28:c.C5714T:p.P1905L","Epilepsy, generalized, with febrile seizures plus, type 2, Autosomal dominant;Epileptic encephalopathy, early infantile, 6, Autosomal dominant;Febrile seizures, familial, 3A, Autosomal dominant;Migraine, familial hemiplegic, 3, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",0.999,"D",0,"D",1,"D",3.46,"M",-3.99,"D",-9.2,"D",0.908,5.681,26.7,0.999,0.992,"D",1.089,"D",0.957,"D",0.487,0,5.6,0.917,1.048,0.999,1,19.982,"FamilyBased",".","ASD","WES",".","."]
[4682,25363768,2,173232213,173232213,"G","A","DeNovo",".",".","2q31.1","exonic","MAP3K20",51776,".","nonsynonymous SNV","MAP3K20:NM_016653:exon13:c.G1054A:p.V352I","Split-foot malformation with mesoaxial polydactyly, Autosomal recessive",".","rs755674436",{"v":3.31e-05,"d":"3.31E-05"},0,0,0,0,{"v":3e-05,"d":"3.00E-05"},0,1E-4,".",".",".",".",".",".",0.031,"D",0.198,"B",0.058,"B",0.003,"N",0.722,"N",0.755,"N",1,"T",-0.2,"N",0.072,2.952,22.1,0.994,0.83,"D",-1.079,"T",0.067,"T",0.615,0,3.68,0.069,1.038,0.997,1,9.99,"FamilyBased",".","ASD","WES",".","."]
[4696,25363768,2,178583093,178583093,"G","T","DeNovo",".",".","2q31.2","exonic","TTN",7273,".","nonsynonymous SNV","TTN:NM_003319:exon141:c.C38515A:p.L12839I,TTN:NM_133432:exon142:c.C38890A:p.L12964I,TTN:NM_133437:exon142:c.C39091A:p.L13031I,TTN:NM_133378:exon262:c.C58006A:p.L19336I,TTN:NM_001256850:exon263:c.C60787A:p.L20263I,TTN:NM_001267550:exon313:c.C65710A:p.L21904I","Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.776,"T",2E-3,"B",0.017,"B",".",".",1,"N",1.07,"L",-0.42,"T",-0.09,"N",0.123,1.602,13.86,0.884,0.072,"N",-0.936,"T",0.141,"T",0.554,0,-5.22,-0.683,0.079,0.194,0.324,2.303,"FamilyBased",".","ASD","WES",".","."]
[4721,25363768,2,191385890,191385890,"A","G","DeNovo",".",".","2q32.3","exonic","MYO1B",4430,".","nonsynonymous SNV","MYO1B:NM_001130158:exon16:c.A1360G:p.N454D,MYO1B:NM_001161819:exon16:c.A1360G:p.N454D,MYO1B:NM_001330237:exon16:c.A1360G:p.N454D,MYO1B:NM_001330238:exon16:c.A1360G:p.N454D,MYO1B:NM_012223:exon16:c.A1360G:p.N454D",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.568,"T",0.022,"B",0.088,"B",0,"D",1,"D",1.29,"L",-0.6,"T",-1.99,"N",0.176,2.181,17.39,0.99,0.959,"D",-0.765,"T",0.253,"T",0.707,0,5.23,1.062,1.128,0.999,0.998,15.406,"FamilyBased",".","ASD","WES",".","."]
[4755,25363768,2,215052510,215052510,"C","T","DeNovo",".",".","2q35","exonic","ABCA12",26154,".","nonsynonymous SNV","ABCA12:NM_173076:exon5:c.G484A:p.A162T","Ichthyosis, congenital, autosomal recessive 4A, Autosomal recessive;Ichthyosis, congenital, autosomal recessive 4B (harlequin), Autosomal recessive",".","rs192427187",{"v":4.14e-05,"d":"4.14E-05"},0,0,0,0,{"v":7.52e-05,"d":"7.52E-05"},0,0,".",".",".",".",".",".",0.525,"T",1E-3,"B",1E-3,"B",0.867,"N",1,"N",-0.55,"N",-2.33,"D",0.24,"N",0.099,1.839,15.22,0.823,0.186,"N",-0.839,"T",0.271,"T",0.595,0,1.75,0.008,-0.394,0.752,0.831,4.094,"FamilyBased",".","ASD","WES",".","."]
[4773,25363768,2,219163441,219163441,"A","G","DeNovo",".",".","2q35","exonic","SLC23A3",151295,".","nonsynonymous SNV","SLC23A3:NM_144712:exon9:c.T1037C:p.M346T,SLC23A3:NM_001144889:exon10:c.T1388C:p.M463T,SLC23A3:NM_001144890:exon10:c.T1412C:p.M471T",".",".","rs777361872",{"v":8.29e-06,"d":"8.29E-06"},0,0,1E-4,0,0,0,0,".",".",".",".",".",".",0.51,"T",0.999,"D",0.994,"D",0,"D",1,"D",1.98,"M",2.27,"T",-2.59,"D",0.757,2.377,18.67,0.931,0.946,"D",-1.067,"T",0.101,"T",0.554,0,4.46,1.062,1.088,1,1,14.18,"FamilyBased",".","ASD","WES",".","."]
[4802,25363768,2,232531616,232531616,"G","A","DeNovo",".",".","2q37.1","exonic","CHRND",1144,".","nonsynonymous SNV","CHRND:NM_001311195:exon7:c.G425A:p.R142Q,CHRND:NM_001256657:exon8:c.G962A:p.R321Q,CHRND:NM_000751:exon9:c.G1007A:p.R336Q,CHRND:NM_001311196:exon9:c.G704A:p.R235Q","Multiple pterygium syndrome, lethal type, Autosomal recessive;Myasthenic syndrome, congenital, 3B, fast-channel, Autosomal recessive",".","rs375623674",{"v":4.12e-05,"d":"4.12E-05"},0,0,1E-4,0,{"v":6e-05,"d":"6.00E-05"},0,0,".",".",".",".",".",".",0,"D",1,"D",0.999,"D",0,"D",1,"D",3.485,"M",-2.32,"D",-3.97,"D",0.89,7.524,34,1,0.995,"D",0.882,"D",0.86,"D",0.403,0,6.08,0.917,1.045,0.943,0.973,20.663,"FamilyBased",".","ASD","WES",".","."]
[4834,25363768,2,241096305,241096305,"T","A","DeNovo",".",".","2q37.3","exonic","MTERF4",130916,".","nonsynonymous SNV","MTERF4:NM_001330179:exon3:c.A275T:p.K92M,MTERF4:NM_182501:exon4:c.A839T:p.K280M",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",2E-3,"D",1,"D",0.99,"D",0,"D",1,"D",2.36,"M",2.24,"T",-4.47,"D",0.533,5.38,25.9,0.995,0.957,"D",-0.49,"T",0.272,"T",0.707,0,5.71,0.991,1.011,1,1,14.958,"FamilyBased",".","ASD","WES",".","."]
[4845,25363768,3,4658254,4658254,"G","A","DeNovo",".",".","3p26.1","exonic","ITPR1",3708,".","nonsynonymous SNV","ITPR1:NM_001168272:exon12:c.G1082A:p.R361H,ITPR1:NM_002222:exon12:c.G1082A:p.R361H,ITPR1:NM_001099952:exon13:c.G1127A:p.R376H","Gillespie syndrome;Spinocerebellar ataxia 15, Autosomal dominant;Spinocerebellar ataxia 29, congenital nonprogressive, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.306,"T",0.916,"P",0.532,"P",0,"D",1,"D",1.1,"L",-2.16,"D",-1.75,"N",0.557,5.695,26.8,0.998,0.972,"D",0.151,"D",0.58,"D",0.707,0,5.39,0.917,1.048,0.903,0.99,19.171,"FamilyBased",".","ASD","WES",".","."]
[4858,25363768,3,10346089,10346089,"G","A","DeNovo",".",".","3p25.3","exonic","ATP2B2",491,".","nonsynonymous SNV","ATP2B2:NM_001330611:exon14:c.C2318T:p.T773M,ATP2B2:NM_001683:exon14:c.C2318T:p.T773M,ATP2B2:NM_001001331:exon17:c.C2453T:p.T818M",".","ID=COSM580774,COSM1143080;OCCURENCE=1(lung)",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",0.997,"D",0,"D",1,"D",4.81,"H",-3.99,"D",-5.54,"D",0.932,6.938,33,0.999,0.993,"D",1.063,"D",0.971,"D",0.581,0,4.36,0.917,0.902,0.998,0.993,17.232,"FamilyBased",".","ASD","WES",".","."]
[4881,25363768,3,29988192,29988192,"C","T","DeNovo",".",".","3p24.1","exonic","RBMS3",27303,".","nonsynonymous SNV","RBMS3:NM_001003792:exon12:c.C1094T:p.T365M,RBMS3:NM_001177711:exon12:c.C1100T:p.T367M,RBMS3:NM_014483:exon12:c.C1100T:p.T367M,RBMS3:NM_001003793:exon13:c.C1148T:p.T383M,RBMS3:NM_001177712:exon13:c.C1139T:p.T380M",".","ID=COSM1043499;OCCURENCE=1(endometrium)","rs199569162",{"v":4.12e-05,"d":"4.12E-05"},{"v":9.61e-05,"d":"9.61E-05"},0,0,0,{"v":4.5e-05,"d":"4.50E-05"},0,{"v":6.06e-05,"d":"6.06E-05"},1.99681E-4,".",".",".",".",".",2E-3,"D",0.999,"D",0.947,"D",0,"D",1,"D",0,"N",1.6,"T",-1.73,"N",0.668,7.353,34,0.999,0.985,"D",-0.995,"T",0.095,"T",0.615,0,5.79,0.871,0.935,1,1,20.031,"FamilyBased",".","ASD","WES",".","."]
[4906,25363768,3,39266455,39266455,"C","G","DeNovo",".",".","3p22.2","exonic","CX3CR1",1524,".","nonsynonymous SNV","CX3CR1:NM_001171171:exon2:c.G55C:p.E19Q,CX3CR1:NM_001171172:exon2:c.G55C:p.E19Q,CX3CR1:NM_001171174:exon2:c.G151C:p.E51Q,CX3CR1:NM_001337:exon2:c.G55C:p.E19Q",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.292,"T",0.93,"P",0.543,"P",0.796,"N",1,"N",2.28,"M",1.62,"T",-0.61,"N",0.239,2.097,16.84,0.993,0.343,"N",-0.741,"T",0.309,"T",0.497,0,3.49,-0.058,0.935,0.004,0.151,7.981,"FamilyBased",".","ASD","WES",".","."]
[4959,25363768,3,49655512,49655512,"G","A","DeNovo",".",".","3p21.31","exonic","BSN",8927,".","nonsynonymous SNV","BSN:NM_003458:exon5:c.G5956A:p.D1986N",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1E-3,"D",0.999,"D",0.941,"D",0,"D",1,"D",2.35,"M",1.75,"T",-4.23,"D",0.067,2.58,19.98,0.997,0.997,"D",-0.759,"T",0.176,"T",0.581,0,5.1,0.917,0.94,1,1,18.52,"FamilyBased",".","ASD","WES",".","."]
[4964,25363768,3,50186303,50186303,"C","T","DeNovo",".",".","3p21.31","exonic","SEMA3F",6405,".","nonsynonymous SNV","SEMA3F:NM_001318798:exon16:c.C1471T:p.R491W,SEMA3F:NM_001318800:exon16:c.C1675T:p.R559W,SEMA3F:NM_004186:exon17:c.C1768T:p.R590W",".","ID=COSM1670215;OCCURENCE=1(haematopoietic_and_lymphoid_tissue)",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",0.959,"D",0,"D",0.986,"D",2.635,"M",1.93,"T",-6.07,"D",0.581,7.613,34,0.999,0.874,"D",-0.743,"T",0.17,"T",0.707,0,2.85,0.871,0.852,0.981,0.971,14.14,"FamilyBased",".","ASD","WES",".","."]
[4999,25363768,3,57323108,57323108,"C","T","DeNovo",".",".","3p14.3","exonic","DNAH12",201625,".","nonsynonymous SNV","DNAH12:NM_001291661:exon64:c.G10294A:p.V3432M",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.021,"D",0.997,"D",0.974,"D",0,"D",0.991,"D",3.48,"M",3.07,"T",-1.91,"N",0.732,6.665,32,0.999,0.945,"D",-0.882,"T",0.119,"T",0.487,0,6.07,0.871,0.935,0.984,0.995,20.659,"FamilyBased",".","ASD","WES",".","."]
[5013,25363768,3,69937960,69937960,"G","C","DeNovo",".",".","3p13","exonic","MITF",4286,".","nonsynonymous SNV","MITF:NM_000248:exon2:c.G172C:p.G58R,MITF:NM_001184968:exon2:c.G172C:p.G58R,MITF:NM_198158:exon2:c.G172C:p.G58R,MITF:NM_001184967:exon3:c.G337C:p.G113R,MITF:NM_006722:exon3:c.G490C:p.G164R,MITF:NM_198159:exon3:c.G493C:p.G165R,MITF:NM_198177:exon3:c.G445C:p.G149R","COMMAD syndrome, Autosomal recessive;Tietz albinism-deafness syndrome, Autosomal dominant;Waardenburg syndrome, type 2A, Autosomal dominant;Waardenburg syndrome/ocular albinism, digenic, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.07,"T",0.979,"D",0.865,"P",0,"D",1,"D",1.445,"L",2.66,"T",-1.19,"N",0.685,3.597,23.2,0.999,0.934,"D",-1.101,"T",0.122,"T",0.554,0,5.69,0.917,1.048,1,1,19.807,"FamilyBased",".","ASD","WES",".","."]
[5043,25363768,3,114005793,114005793,"G","C","DeNovo",".",".","3q13.31","exonic","CCDC191",57577,".","nonsynonymous SNV","CCDC191:NM_020817:exon10:c.C1583G:p.S528C",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.216,"T",0.006,"B",0.006,"B",0.433,"N",1,"N",1.79,"L",1.45,"T",-0.87,"N",0.189,-0.085,1.846,0.696,0.129,"N",-0.974,"T",0.132,"T",0.554,0,2.2,0.069,0.127,0,0,5.449,"FamilyBased",".","ASD","WES",".","."]
[5057,25363768,3,122922335,122922335,"G","C","DeNovo",".",".","3q21.1","exonic","SEMA5B",54437,".","nonsynonymous SNV","SEMA5B:NM_001256348:exon10:c.C1211G:p.P404R,SEMA5B:NM_001031702:exon11:c.C1385G:p.P462R,SEMA5B:NM_001256346:exon11:c.C1385G:p.P462R,SEMA5B:NM_001256347:exon11:c.C1547G:p.P516R",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1E-3,"D",1,"D",1,"D",0,"D",1,"D",3.72,"H",0.78,"T",-8.24,"D",0.95,5.528,26.3,0.998,0.97,"D",0.019,"D",0.402,"T",0.726,0,4.42,0.917,0.998,0.997,0.999,13.027,"FamilyBased",".","ASD","WES",".","."]
[5074,25363768,3,127676379,127676379,"T","G","DeNovo",".",".","3q21.3","exonic","ABTB1",80325,".","nonsynonymous SNV","ABTB1:NM_032548:exon5:c.T2G:p.M1R,ABTB1:NM_172027:exon5:c.T428G:p.M143R",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.069,"T",0.998,"D",0.865,"P",0,"D",1,"D",2.005,"M",-0.22,"T",-1.24,"N",0.812,0.602,8.172,0.975,0.95,"D",-0.257,"T",0.42,"T",0.834,0,3.56,0.987,0.076,1,0.598,10.283,"FamilyBased",".","ASD","WES",".","."]
[5097,25363768,3,138167118,138167118,"T","C","DeNovo",".",".","3q22.3","exonic","DBR1",51163,".","nonsynonymous SNV","DBR1:NM_016216:exon5:c.A677G:p.H226R",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",0.999,"D",0,"D",1,"D",4.14,"H",-5.95,"D",-7.97,"D",0.961,5.247,25.6,0.998,0.986,"D",0.99,"D",0.989,"D",0.707,0,5.48,0.991,0.964,0.986,0.997,13.533,"FamilyBased",".","ASD","WES",".","."]
[5129,25363768,3,160430718,160430718,"T","C","DeNovo",".",".","3q25.33","exonic","SMC4",10051,".","nonsynonymous SNV","SMC4:NM_005496:exon18:c.T2915C:p.V972A,SMC4:NM_001002800:exon19:c.T2915C:p.V972A,SMC4:NM_001288753:exon19:c.T2840C:p.V947A",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.178,"T",0.981,"D",0.848,"P",0,"D",1,"D",2.405,"M",-0.78,"T",-1.57,"N",0.388,2.835,21.5,0.991,0.978,"D",0.304,"D",0.576,"D",0.707,0,5.61,0.991,0.924,0.155,0.536,15.475,"FamilyBased",".","ASD","WES",".","."]
[5132,25363768,3,167240902,167240902,"G","T","DeNovo",".",".","3q26.1","exonic","ZBBX",79740,".","nonsynonymous SNV","ZBBX:NM_001199202:exon21:c.C2207A:p.T736N,ZBBX:NM_024687:exon21:c.C2294A:p.T765N,ZBBX:NM_001199201:exon22:c.C2411A:p.T804N",".",".","rs780391763",{"v":8.3e-06,"d":"8.30E-06"},0,0,1E-4,0,0,0,0,".",".",".",".",".",".",0.239,"T",0.59,"P",0.276,"B",0.161,"N",1,"N",0.755,"N",0.26,"T",-1.01,"N",0.186,2.949,22.1,0.983,0.382,"N",-1.036,"T",0.116,"T",0.554,0,3.27,-0.783,0.108,0.185,0.49,8.234,"FamilyBased",".","ASD","WES",".","."]
[5170,25363768,3,186288839,186288839,"C","A","DeNovo",".",".","3q27.2","exonic","DGKG",1608,".","nonsynonymous SNV","DGKG:NM_001080744:exon6:c.G415T:p.V139L,DGKG:NM_001080745:exon6:c.G415T:p.V139L,DGKG:NM_001346:exon6:c.G415T:p.V139L",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.762,"T",0,"B",0.003,"B",0.003,"N",1,"N",0.49,"N",0.94,"T",0.04,"N",0.118,0.604,8.186,0.827,0.252,"N",-1.03,"T",0.071,"T",0.487,0,3.46,0.598,0.935,0.024,0.072,6.486,"FamilyBased",".","ASD","WES",".","."]
[5186,25363768,3,195785897,195785897,"T","A","DeNovo",".",".","3q29","exonic","MUC4",4585,".","nonsynonymous SNV","MUC4:NM_018406:exon2:c.A5683T:p.N1895Y,MUC4:NM_001322468:exon6:c.A5683T:p.N1895Y",".",".","rs2688553",0.084,0.276,0.0571,0,0.0675,0.0759,0.0902,0.0617,".",".",".",".",".",".",0.02,"D",1E-3,"B",0,"B",".",".",1,"P",0,"N",1.27,"T",-0.47,"N",0.051,-0.231,0.943,0.973,0.003,"N",-1.006,"T",0.043,"T",0.554,0,0.423,-2.45,-2.459,2E-3,0.003,3.739,"FamilyBased",".","ASD","WES",".","."]
[5226,25363768,4,6112792,6112792,"T","C","DeNovo",".",".","4p16.1","exonic","JAKMIP1",152789,".","nonsynonymous SNV","JAKMIP1:NM_001099433:exon2:c.A59G:p.Q20R,JAKMIP1:NM_001306133:exon2:c.A59G:p.Q20R,JAKMIP1:NM_001306134:exon2:c.A59G:p.Q20R,JAKMIP1:NM_144720:exon2:c.A59G:p.Q20R",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.97,"T",0.981,"D",0.954,"D",0,"D",1,"N",2.42,"M",1.12,"T",0.24,"N",0.832,3.663,23.2,0.998,0.949,"D",-0.838,"T",0.233,"T",0.707,0,3.94,0.991,0.998,0.546,0.696,12.149,"FamilyBased",".","ASD","WES",".","."]
[5245,25363768,4,31142645,31142645,"G","T","DeNovo",".",".","4p15.1","exonic","PCDH7",5099,".","nonsynonymous SNV","PCDH7:NM_001173523:exon3:c.G3564T:p.K1188N,PCDH7:NM_032457:exon3:c.G3540T:p.K1180N",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WES",".","."]
[5269,25363768,4,48540739,48540739,"C","T","DeNovo",".",".","4p11","exonic","FRYL",285527,".","nonsynonymous SNV","FRYL:NM_015030:exon46:c.G5909A:p.S1970N",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.389,"T",0.019,"B",0.014,"B",0.058,"N",1,"N",-0.345,"N",1.43,"T",0.06,"N",0.088,-1.51,0.003,0.812,0.239,"N",-1.023,"T",0.033,"T",0.732,0,3.53,-0.011,0.059,0.598,2E-3,10.343,"FamilyBased",".","ASD","WES",".","."]
[5291,25363768,4,71486989,71486989,"T","G","DeNovo",".",".","4q13.3","exonic","SLC4A4",8671,".","nonsynonymous SNV","SLC4A4:NM_003759:exon12:c.T1813G:p.Y605D,SLC4A4:NM_001098484:exon15:c.T1945G:p.Y649D,SLC4A4:NM_001134742:exon15:c.T1945G:p.Y649D","Renal tubular acidosis, proximal, with ocular abnormalities, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.481,"T",0,"B",0,"B",0.225,"N",1,"N",-0.805,"N",-0.7,"T",1.36,"N",0.122,-0.366,0.468,0.321,1E-3,"N",-0.895,"T",0.152,"T",0.487,0,1.88,-0.027,-0.804,0.015,0.046,4.228,"FamilyBased",".","ASD","WES",".","."]
[5323,25363768,4,88139922,88139922,"G","A","DeNovo",".",".","4q22.1","exonic","ABCG2",9429,".","nonsynonymous SNV","ABCG2:NM_001257386:exon2:c.C74T:p.S25F,ABCG2:NM_001348986:exon2:c.C74T:p.S25F,ABCG2:NM_001348987:exon2:c.C74T:p.S25F,ABCG2:NM_001348989:exon2:c.C74T:p.S25F,ABCG2:NM_004827:exon2:c.C74T:p.S25F,ABCG2:NM_001348985:exon3:c.C74T:p.S25F,ABCG2:NM_001348988:exon3:c.C74T:p.S25F",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.096,"T",0.016,"B",0.022,"B",0.978,"N",1,"N",0.895,"L",-0.34,"T",-1.89,"N",0.306,0.148,4.129,0.984,0.106,"N",-0.53,"T",0.455,"T",0.516,0,3.37,0.055,0.902,0.017,0.023,5.836,"FamilyBased",".","ASD","WES",".","."]
[5326,25363768,4,89912007,89912007,"G","C","DeNovo",".",".","4q22.1","exonic","MMRN1",22915,".","nonsynonymous SNV","MMRN1:NM_007351:exon3:c.G807C:p.W269C",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",1,"D",0,"D",1,"D",2.87,"M",0.77,"T",-9.59,"D",0.93,6.756,32,0.993,0.97,"D",1.005,"D",0.905,"D",0.672,0,5.16,0.63,1.048,0.988,0.997,17.71,"FamilyBased",".","ASD","WES",".","."]
[5375,25363768,4,143876820,143876820,"C","T","DeNovo",".",".","4q31.21","exonic","GYPE",2996,".","nonsynonymous SNV","GYPE:NM_002102:exon3:c.G172A:p.V58I,GYPE:NM_198682:exon3:c.G172A:p.V58I",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"T",0.386,"B",0.198,"B",".",".",1,"N",".",".",4.1,"T",0.63,"N",0.062,-1.355,0.004,0.11,0.012,"N",-0.947,"T",0.004,"T",0.554,0,".",0.057,-0.274,0.09,2E-3,".","FamilyBased",".","ASD","WES",".","."]
[5396,25363768,4,167000419,167000419,"G","C","DeNovo",".",".","4q32.3","exonic","SPOCK3",50859,".","nonsynonymous SNV","SPOCK3:NM_001204354:exon3:c.C13G:p.R5G,SPOCK3:NM_001040159:exon4:c.C280G:p.R94G,SPOCK3:NM_001204356:exon4:c.C280G:p.R94G,SPOCK3:NM_001204358:exon4:c.C280G:p.R94G,SPOCK3:NM_001204352:exon5:c.C136G:p.R46G,SPOCK3:NM_016950:exon5:c.C289G:p.R97G",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.022,"D",0.771,"P",0.643,"P",0.003,"N",1,"D",1.7,"L",2.13,"T",-3.13,"D",0.745,6.093,28.2,0.994,0.959,"D",-0.741,"T",0.216,"T",0.554,0,5.4,0.917,1.048,0.996,0.909,19.529,"FamilyBased",".","ASD","WES",".","."]
[5431,25363768,5,13840967,13840967,"C","T","DeNovo",".",".","5p15.2","exonic","DNAH5",1767,".","nonsynonymous SNV","DNAH5:NM_001369:exon34:c.G5648A:p.R1883Q","Ciliary dyskinesia, primary, 3, with or without situs inversus","ID=COSM1695440;OCCURENCE=1(skin)","rs747514968",{"v":2.47e-05,"d":"2.47E-05"},0,{"v":8.65e-05,"d":"8.65E-05"},0,0,{"v":1.5E-5,"d":"1.50E-05"},0,{"v":6.06e-05,"d":"6.06E-05"},".",".",".",".",".",".",0,"D",1,"D",0.994,"D",0,"D",1,"D",3.525,"H",1.28,"T",-3.83,"D",0.859,4.554,24.4,0.999,0.984,"D",-0.156,"T",0.343,"T",0.554,0,5.77,0.871,0.935,0.97,0.303,18.986,"FamilyBased",".","ASD","WES",".","."]
[5446,25363768,5,35876241,35876241,"G","A","DeNovo",".",".","5p13.2","exonic","IL7R",3575,".","nonsynonymous SNV","IL7R:NM_002185:exon8:c.G1135A:p.A379T","Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type, Autosomal recessive",".","rs200570812",{"v":2.47e-05,"d":"2.47E-05"},{"v":9.61e-05,"d":"9.61E-05"},0,0,0,{"v":1.5E-5,"d":"1.50E-05"},0,{"v":6.06e-05,"d":"6.06E-05"},".",".",".",".",".",".",0.477,"T",0.026,"B",2E-3,"B",".",".",1,"N",1.355,"L",1.88,"T",0.12,"N",0.308,-1.419,0.003,0.421,0.017,"N",-1.049,"T",0.041,"T",0.653,0,-11.2,-0.094,-1.669,1E-3,0,3.302,"FamilyBased",".","ASD","WES",".","."]
[5475,25363768,5,71604406,71604406,"C","G","DeNovo",".",".","5q13.2","exonic","MCCC2",64087,".","nonsynonymous SNV","MCCC2:NM_022132:exon6:c.C562G:p.R188G","3-Methylcrotonyl-CoA carboxylase 2 deficiency, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1E-3,"D",0.921,"P",0.605,"P",0,"D",1,"D",1.745,"L",-4.46,"D",-5.39,"D",0.961,5.015,25.2,0.998,0.947,"D",1.01,"D",0.917,"D",0.706,0,4.7,0.871,0.935,0.994,0.955,13.939,"FamilyBased",".","ASD","WES",".","."]
[5482,25363768,5,75425460,75425460,"T","C","DeNovo",".",".","5q13.3","exonic","COL4A3BP",10087,".","nonsynonymous SNV","COL4A3BP:NM_005713:exon5:c.A496G:p.T166A,COL4A3BP:NM_031361:exon5:c.A496G:p.T166A,COL4A3BP:NM_001130105:exon6:c.A880G:p.T294A","Mental retardation, autosomal dominant 34, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.095,"T",0.72,"P",0.287,"B",0,"D",1,"D",2.005,"M",1.27,"T",-4.1,"D",0.766,4.064,23.7,0.994,0.982,"D",-0.94,"T",0.132,"T",0.707,0,5.75,0.991,1.011,0.998,0.99,16.105,"FamilyBased",".","ASD","WES",".","."]
[5527,25363768,5,132213927,132213927,"C","T","DeNovo",".",".","5q31.1","exonic","P4HA2",8974,".","nonsynonymous SNV","P4HA2:NM_001017973:exon5:c.G458A:p.G153E,P4HA2:NM_001017974:exon5:c.G458A:p.G153E,P4HA2:NM_004199:exon5:c.G458A:p.G153E,P4HA2:NM_001142598:exon6:c.G458A:p.G153E,P4HA2:NM_001142599:exon6:c.G458A:p.G153E","Myopia 25, autosomal dominant, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",1,"D",0,"D",1,"D",3.78,"H",0.16,"T",-7.5,"D",0.953,6.515,31,0.998,0.989,"D",0.363,"D",0.551,"D",0.706,0,5.53,0.871,0.935,0.995,0.996,19.475,"FamilyBased",".","ASD","WES",".","."]
[5528,25363768,5,132861753,132861753,"T","C","DeNovo",".",".","5q31.1","exonic","GDF9",2661,".","nonsynonymous SNV","GDF9:NM_005260:exon2:c.A1201G:p.M401V,GDF9:NM_001288824:exon3:c.A937G:p.M313V,GDF9:NM_001288825:exon4:c.A937G:p.M313V,GDF9:NM_001288826:exon4:c.A937G:p.M313V,GDF9:NM_001288827:exon4:c.A937G:p.M313V,GDF9:NM_001288828:exon4:c.A937G:p.M313V",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.092,"T",0.008,"B",0.023,"B",0,"N",0.999,"D",0.155,"N",-1.55,"D",-0.59,"N",0.303,0.626,8.334,0.864,0.905,"D",-0.908,"T",0.257,"T",0.549,0,2.29,0.991,0.144,0.999,0.998,7.314,"FamilyBased",".","ASD","WES",".","."]
[5571,25363768,5,144165452,144165452,"T","A","DeNovo",".",".","5q31.3","exonic","YIPF5",81555,".","nonsynonymous SNV","YIPF5:NM_001271732:exon2:c.A101T:p.D34V,YIPF5:NM_001024947:exon3:c.A263T:p.D88V,YIPF5:NM_030799:exon3:c.A263T:p.D88V",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.005,"D",0.268,"B",0.318,"B",0,"D",1,"D",2.42,"M",1.29,"T",-5.89,"D",0.658,4.404,24.1,0.992,0.992,"D",-0.735,"T",0.205,"T",0.706,0,4.83,0.991,1.061,0.999,0.998,13.283,"FamilyBased",".","ASD","WES",".","."]
[5584,25363768,5,150647953,150647953,"G","A","DeNovo",".",".","5q33.1","exonic","SYNPO",11346,".","nonsynonymous SNV","SYNPO:NM_001166208:exon3:c.G410A:p.R137Q,SYNPO:NM_001166209:exon3:c.G410A:p.R137Q",".","ID=COSM307570;OCCURENCE=1(kidney)",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.157,"T",0.392,"B",0.071,"B",0.874,"N",1,"D",0.77,"N",0.27,"T",-3.02,"D",0.13,2.397,18.8,0.98,0.868,"D",-1.074,"T",0.134,"T",0.706,0,2.25,-0.7,-0.231,0.405,0.933,12.683,"FamilyBased",".","ASD","WES",".","."]
[5613,25363768,5,171170188,171170188,"C","T","DeNovo",".",".","5q35.1","exonic","RANBP17",64901,".","nonsynonymous SNV","RANBP17:NM_022897:exon15:c.C1769T:p.T590M",".","ID=COSM1435996;OCCURENCE=1(large_intestine)","rs760278784",{"v":8.77e-06,"d":"8.77E-06"},0,0,0,0,{"v":1.6e-05,"d":"1.60E-05"},0,0,".",".",".",".",".",".",0.004,"D",0.827,"P",0.172,"B",0.035,"N",0.975,"N",0.14,"N",1.97,"T",0.75,"N",0.734,5.105,25.3,0.995,0.758,"D",-1.055,"T",0.023,"T",0.615,0,5.2,0.871,0.935,1,1,9.477,"FamilyBased",".","ASD","WES",".","."]
[5625,25363768,5,176494054,176494054,"A","G","DeNovo",".",".","5q35.2","exonic","FAF2",23197,".","nonsynonymous SNV","FAF2:NM_014613:exon6:c.A539G:p.D180G",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.007,"D",0.469,"P",0.223,"B",0,"D",1,"D",2.38,"M",0.84,"T",-3.53,"D",0.671,4.512,24.3,0.997,0.994,"D",-0.824,"T",0.173,"T",0.707,0,5.36,1.062,1.199,1,0.999,15.652,"FamilyBased",".","ASD","WES",".","."]
[5653,25363768,5,181058372,181058372,"T","A","DeNovo",".",".","5q35.3","exonic","BTNL9",153579,".","nonsynonymous SNV","BTNL9:NM_152547:exon10:c.T976A:p.Y326N",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.009,"D",0.103,"B",0.065,"B",0.038,"N",1,"N",2.125,"M",-0.03,"T",-2.74,"D",0.427,3.312,22.9,0.913,0.071,"N",-0.938,"T",0.185,"T",0.598,0,0.011,0.97,0.951,0.997,0.951,8.038,"FamilyBased",".","ASD","WES",".","."]
[5674,25363768,6,13622432,13622432,"C","T","DeNovo",".",".","6p23","exonic","RANBP9",10048,".","nonsynonymous SNV","RANBP9:NM_005493:exon14:c.G2120A:p.C707Y",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.004,"D",0.008,"B",0.015,"B",0,"D",1,"D",2.425,"M",-1.38,"T",-4.62,"D",0.718,5.609,26.5,0.997,0.977,"D",-0.315,"T",0.372,"T",0.672,0,5.31,0.871,0.935,1,1,15.87,"FamilyBased",".","ASD","WES",".","."]
[5722,25363768,6,33658811,33658811,"C","T","DeNovo",".",".","6p21.31","exonic","ITPR3",3710,".","nonsynonymous SNV","ITPR3:NM_002224:exon5:c.C511T:p.R171W",".","ID=COSM1078098,COSM1596318;OCCURENCE=1(endometrium)",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",0.979,"D",0.005,"N",1,"D",3.39,"M",-5.28,"D",-7.12,"D",0.873,7.907,35,0.999,0.958,"D",1.083,"D",0.974,"D",0.707,0,4.72,0.871,0.807,0.994,0.998,12.753,"FamilyBased",".","ASD","WES",".","."]
[5723,25363768,6,33667913,33667913,"A","G","DeNovo",".",".","6p21.31","exonic","ITPR3",3710,".","nonsynonymous SNV","ITPR3:NM_002224:exon16:c.A1835G:p.K612R",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.257,"T",0.633,"P",0.446,"B",0,"D",0.904,"D",0.77,"N",-3.67,"D",-0.59,"N",0.431,3.988,23.6,0.998,0.913,"D",0.301,"D",0.633,"D",0.719,0,5.27,1.062,1.088,0.999,0.998,11.227,"FamilyBased",".","ASD","WES",".","."]
[5755,25363768,6,43132030,43132030,"G","A","DeNovo",".",".","6p21.1","exonic","PTK7",5754,".","nonsynonymous SNV","PTK7:NM_001270398:exon6:c.G851A:p.R284H,PTK7:NM_002821:exon6:c.G827A:p.R276H,PTK7:NM_152880:exon6:c.G827A:p.R276H,PTK7:NM_152881:exon6:c.G827A:p.R276H,PTK7:NM_152882:exon6:c.G827A:p.R276H",".",".","rs56188167",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.051,"T",1,"D",0.961,"D",2E-3,"N",0.999,"N",0.79,"N",4.77,"T",1.1,"N",0.198,5.018,25.2,0.999,0.894,"D",-0.584,"T",0.256,"T",0.732,0,5.51,0.917,0.994,0.801,0.982,14.777,"FamilyBased",".","ASD","WES",".","."]
[5789,25363768,6,69330529,69330529,"G","A","DeNovo",".",".","6q13","exonic","ADGRB3",577,".","nonsynonymous SNV","ADGRB3:NM_001704:exon23:c.G3059A:p.G1020E",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.013,"D",1,"D",1,"D",0,"D",1,"D",3.265,"M",0.96,"T",-6.85,"D",0.974,6.908,33,0.998,0.995,"D",-0.529,"T",0.311,"T",0.554,0,6.17,0.917,1.048,1,1,20.879,"FamilyBased",".","ASD","WES",".","."]
[5796,25363768,6,75165776,75165776,"C","T","DeNovo",".",".","6q13","exonic","COL12A1",1303,".","nonsynonymous SNV","COL12A1:NM_004370:exon14:c.G2714A:p.R905H","Bethlem myopathy 2",".","rs369193482",0.0002,1E-4,0.0003,0.0004,0,0.0002,0,{"v":6.12e-05,"d":"6.12E-05"},1.99681E-4,".",".",".",".",".",0.579,"T",0.997,"D",0.683,"P",0,"D",1,"D",1.7,"L",0.57,"T",-1.26,"N",0.545,5.048,25.2,0.999,0.889,"D",-0.783,"T",0.175,"T",0.706,0,5.3,0.871,0.852,0.952,0.963,18.951,"FamilyBased",".","ASD","WES",".","."]
[5820,25363768,6,99439840,99439840,"G","A","DeNovo",".",".","6q16.2","exonic","USP45",85015,".","nonsynonymous SNV","USP45:NM_001346024:exon14:c.C1915T:p.R639C,USP45:NM_001346025:exon14:c.C1912T:p.R638C,USP45:NM_001346028:exon15:c.C1009T:p.R337C,USP45:NM_001080481:exon16:c.C2089T:p.R697C,USP45:NM_001346021:exon16:c.C2089T:p.R697C,USP45:NM_001346022:exon16:c.C2089T:p.R697C,USP45:NM_001346023:exon16:c.C2086T:p.R696C,USP45:NM_001346026:exon16:c.C2089T:p.R697C,USP45:NM_001346027:exon16:c.C1009T:p.R337C,USP45:NM_001346029:exon16:c.C1009T:p.R337C",".",".","rs751595241",{"v":8.44e-06,"d":"8.44E-06"},0,0,0,0,{"v":1.55e-05,"d":"1.55E-05"},0,0,".",".",".",".",".",".",0.178,"T",1,"D",1,"D",0,"N",1,"D",2.035,"M",1.48,"T",-4.54,"D",0.529,6.107,28.3,0.999,0.951,"D",-0.978,"T",0.111,"T",0.732,0,4.77,0.917,0.953,0.999,1,10.254,"FamilyBased",".","ASD","WES",".","."]
[5849,25363768,6,129507546,129507546,"G","A","DeNovo",".",".","6q22.33","exonic","LAMA2",3908,".","nonsynonymous SNV","LAMA2:NM_001079823:exon61:c.G8749A:p.D2917N,LAMA2:NM_000426:exon62:c.G8761A:p.D2921N","Muscular dystrophy, congenital merosin-deficient, Autosomal recessive;Muscular dystrophy, congenital, due to partial LAMA2 deficiency, Autosomal recessive",".","rs139159258",0.0002,1.8E-3,0,0,0,0,0,0,0.000998403,".",".",".",".",".",0.137,"T",0.389,"B",0.04,"B",0,"D",1,"D",1.255,"L",-0.6,"T",-2.7,"D",0.178,1.778,14.86,0.896,0.897,"D",-1.008,"T",0.11,"T",0.554,0,3.6,0.917,0.041,0.858,0.448,12.182,"FamilyBased",".","ASD","WES",".","."]
[5863,25363768,6,142075742,142075742,"A","G","DeNovo",".",".","6q24.1","exonic","NMBR",4829,".","nonsynonymous SNV","NMBR:NM_001324308:exon3:c.T635C:p.V212A,NMBR:NM_002511:exon3:c.T1079C:p.V360A,NMBR:NM_001324307:exon4:c.T635C:p.V212A",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.233,"T",0.107,"B",0.041,"B",0.007,"N",0.997,"D",1.79,"L",-0.26,"T",-0.54,"N",0.241,2.163,17.26,0.994,0.982,"D",-0.895,"T",0.132,"T",0.5,0,5.28,1.039,1.088,0.861,0.267,15.513,"FamilyBased",".","ASD","WES",".","."]
[5899,25363768,6,158763480,158763480,"G","A","DeNovo",".",".","6q25.3","exonic","SYTL3",94120,".","nonsynonymous SNV","SYTL3:NM_001318745:exon14:c.G1076A:p.R359H,SYTL3:NM_001242395:exon15:c.G1490A:p.R497H,SYTL3:NM_001009991:exon16:c.G1490A:p.R497H,SYTL3:NM_001242394:exon17:c.G1694A:p.R565H,SYTL3:NM_001242384:exon18:c.G1694A:p.R565H",".",".","rs141736426",0.0006,0.0002,0.0005,1E-4,0,1E-3,0,0,0.000599042,".",".",".",".",".",0.078,"T",0.998,"D",0.906,"P",0,"D",0.907,"N",0.055,"N",3.12,"T",-0.88,"N",0.488,2.966,22.1,0.984,0.186,"N",-1.018,"T",0.013,"T",0.461,0,4.73,0.63,1.048,0.635,0.69,7.846,"FamilyBased",".","ASD","WES",".","."]
[5901,25363768,6,159239658,159239658,"A","G","DeNovo",".",".","6q25.3","exonic","FNDC1",84624,".","nonsynonymous SNV","FNDC1:NM_032532:exon14:c.A4322G:p.K1441R",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.096,"T",0.412,"B",0.137,"B",0.013,"N",0.949,"N",1.1,"L",2.74,"T",-1.69,"N",0.193,1.278,12.16,0.992,0.465,"N",-0.982,"T",0.01,"T",0.554,0,-0.423,0.075,1.199,0.843,0.676,9.241,"FamilyBased",".","ASD","WES",".","."]
[5946,25363768,7,11590558,11590558,"G","A","DeNovo",".",".","7p21.3","exonic","THSD7A",221981,".","nonsynonymous SNV","THSD7A:NM_015204:exon4:c.C1355T:p.T452M",".","ID=COSM1084364;OCCURENCE=1(endometrium)","rs767811878",{"v":4.16e-05,"d":"4.16E-05"},1E-4,{"v":8.69e-05,"d":"8.69E-05"},0,0,{"v":3.01E-5,"d":"3.01E-05"},0,{"v":6.08e-05,"d":"6.08E-05"},".",".",".",".",".",".",0.032,"D",0.595,"P",0.282,"B",0,"D",1,"D",2.485,"M",0.07,"T",-2.42,"N",0.861,7.23,34,0.999,0.987,"D",-0.5,"T",0.276,"T",0.563,0,5.8,0.917,1.048,0.992,0.99,20.055,"FamilyBased",".","ASD","WES",".","."]
[5951,25363768,7,18585326,18585326,"C","T","DeNovo",".",".","7p21.1","exonic","HDAC9",9734,".","nonsynonymous SNV","HDAC9:NM_058176:exon2:c.C68T:p.P23L,HDAC9:NM_178425:exon2:c.C68T:p.P23L,HDAC9:NM_001204145:exon3:c.C68T:p.P23L,HDAC9:NM_001204146:exon3:c.C68T:p.P23L,HDAC9:NM_001321874:exon3:c.C68T:p.P23L,HDAC9:NM_001321875:exon3:c.C68T:p.P23L,HDAC9:NM_001321876:exon3:c.C68T:p.P23L,HDAC9:NM_001321877:exon3:c.C68T:p.P23L,HDAC9:NM_001321878:exon3:c.C68T:p.P23L,HDAC9:NM_001321879:exon3:c.C68T:p.P23L,HDAC9:NM_001321884:exon3:c.C68T:p.P23L,HDAC9:NM_001321885:exon3:c.C68T:p.P23L,HDAC9:NM_001321888:exon3:c.C68T:p.P23L,HDAC9:NM_001321890:exon3:c.C68T:p.P23L,HDAC9:NM_001321891:exon3:c.C68T:p.P23L,HDAC9:NM_001321895:exon3:c.C68T:p.P23L,HDAC9:NM_001321898:exon3:c.C68T:p.P23L,HDAC9:NM_001321900:exon3:c.C68T:p.P23L,HDAC9:NM_001321901:exon3:c.C68T:p.P23L,HDAC9:NM_001321902:exon3:c.C68T:p.P23L,HDAC9:NM_014707:exon3:c.C68T:p.P23L,HDAC9:NM_178423:exon3:c.C68T:p.P23L,HDAC9:NM_001321868:exon4:c.C134T:p.P45L,HDAC9:NM_001321869:exon4:c.C134T:p.P45L,HDAC9:NM_001321870:exon4:c.C134T:p.P45L,HDAC9:NM_001321871:exon4:c.C134T:p.P45L,HDAC9:NM_001321872:exon4:c.C134T:p.P45L,HDAC9:NM_001321873:exon4:c.C134T:p.P45L,HDAC9:NM_001321893:exon4:c.C68T:p.P23L,HDAC9:NM_001321894:exon4:c.C68T:p.P23L,HDAC9:NM_001321897:exon4:c.C68T:p.P23L,HDAC9:NM_001321899:exon4:c.C68T:p.P23L,HDAC9:NM_001204144:exon5:c.C194T:p.P65L",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.006,"D",1,"D",0.999,"D",0.004,"N",1,"D",2.095,"M",0.57,"T",-3.67,"D",0.907,6.816,32,0.999,0.985,"D",0.375,"D",0.676,"D",0.744,0,5.93,0.871,0.935,0.998,0.998,20.337,"FamilyBased",".","ASD","WES",".","."]
[5991,25363768,7,44766425,44766425,"C","T","DeNovo",".",".","7p13","exonic","ZMIZ2",83637,".","nonsynonymous SNV","ZMIZ2:NM_174929:exon16:c.C2339T:p.A780V,ZMIZ2:NM_001300959:exon17:c.C2243T:p.A748V,ZMIZ2:NM_031449:exon18:c.C2417T:p.A806V",".",".","rs373902604",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.012,"D",0.234,"B",0.138,"B",0.033,"N",0.993,"N",1.04,"L",1.51,"T",-0.29,"N",0.032,2.778,21.2,0.996,0.932,"D",-1.032,"T",0.059,"T",0.732,0,3.36,0.791,0.04,1,0.964,10.188,"FamilyBased",".","ASD","WES",".","."]
[6002,25363768,7,55165388,55165388,"G","A","DeNovo",".",".","7p11.2","exonic","EGFR",1956,".","nonsynonymous SNV","EGFR:NM_001346941:exon9:c.G1030A:p.A344T,EGFR:NM_001346897:exon14:c.G1696A:p.A566T,EGFR:NM_001346899:exon14:c.G1696A:p.A566T,EGFR:NM_001346898:exon15:c.G1831A:p.A611T,EGFR:NM_001346900:exon15:c.G1672A:p.A558T,EGFR:NM_005228:exon15:c.G1831A:p.A611T,EGFR:NM_201282:exon15:c.G1831A:p.A611T,EGFR:NM_201284:exon15:c.G1831A:p.A611T","Adenocarcinoma of lung, response to tyrosine kinase inhibitor in, Autosomal recessive;Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, Autosomal recessive",".","rs201061916",{"v":8.25e-06,"d":"8.25E-06"},0,0,0,0,{"v":1.5E-5,"d":"1.50E-05"},0,0,".",".",".",".",".",".",0.368,"T",0.392,"B",0.074,"B",0,"D",0.998,"D",1.945,"M",1.57,"T",-2.17,"N",0.475,1.713,14.48,0.992,0.956,"D",-1.101,"T",0.065,"T",0.653,0,3.74,-0.033,0.097,0.225,0.019,9.86,"FamilyBased",".","ASD","WES",".","."]
[6033,25363768,7,77377287,77377287,"T","G","DeNovo",".",".","7q11.23","exonic","GSAP",54103,".","nonsynonymous SNV","GSAP:NM_001350900:exon7:c.A35C:p.K12T,GSAP:NM_001350901:exon7:c.A35C:p.K12T,GSAP:NM_001350898:exon8:c.A623C:p.K208T,GSAP:NM_001350896:exon9:c.A680C:p.K227T,GSAP:NM_001350897:exon9:c.A680C:p.K227T,GSAP:NM_001350899:exon9:c.A680C:p.K227T,GSAP:NM_017439:exon9:c.A680C:p.K227T",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.01,"D",0.919,"P",0.663,"P",0.066,"U",0.934,"D",1.95,"M",1.89,"T",-3.04,"D",0.56,4.181,23.8,0.998,0.928,"D",-1.036,"T",0.093,"T",0.651,0,3.91,0.991,0.894,0.991,0.997,10.284,"FamilyBased",".","ASD","WES",".","."]
[6054,25363768,7,94910673,94910673,"C","T","DeNovo",".",".","7q21.3","exonic","PPP1R9A",55607,".","nonsynonymous SNV","PPP1R9A:NM_001166161:exon1:c.C560T:p.S187F,PPP1R9A:NM_001166162:exon1:c.C560T:p.S187F,PPP1R9A:NM_001166163:exon1:c.C560T:p.S187F,PPP1R9A:NM_001166160:exon2:c.C560T:p.S187F,PPP1R9A:NM_017650:exon2:c.C560T:p.S187F",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1E-3,"D",1,"D",0.999,"D",0,"D",1,"D",2.485,"M",-3.31,"D",-3.41,"D",0.817,5.972,27.7,0.998,0.986,"D",0.914,"D",0.899,"D",0.653,0,5.66,0.871,0.892,0.972,0.992,20.12,"FamilyBased",".","ASD","WES",".","."]
[6091,25363768,7,103374495,103374495,"G","C","DeNovo",".",".","7q22.1","exonic","SLC26A5",375611,".","nonsynonymous SNV","SLC26A5:NM_001167962:exon19:c.C2043G:p.S681R,SLC26A5:NM_198999:exon20:c.C2139G:p.S713R",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.249,"T",0.898,"P",0.282,"B",0,"D",1,"D",0,"N",-3.09,"D",-1.3,"N",0.5,2.054,16.56,0.989,0.931,"D",-0.111,"T",0.578,"D",0.554,0,2.66,-0.045,0.898,0.212,0.937,5.696,"FamilyBased",".","ASD","WES",".","."]
[6092,25363768,7,103540259,103540259,"G","A","DeNovo",".",".","7q22.1","exonic","RELN",5649,".","nonsynonymous SNV","RELN:NM_005045:exon44:c.C6868T:p.R2290C,RELN:NM_173054:exon44:c.C6868T:p.R2290C","Lissencephaly 2 (Norman-Roberts type), Autosomal recessive;Lissencephaly 2 (Norman-Roberts type), Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.004,"D",1,"D",0.999,"D",0,"D",1,"D",2.465,"M",1.97,"T",-3.67,"D",0.905,7.179,34,0.999,0.987,"D",-0.632,"T",0.232,"T",0.554,0,5.44,0.917,0.953,0.995,0.999,19.626,"FamilyBased",".","ASD","WES",".","."]
[6126,25363768,7,128982267,128982267,"G","A","DeNovo",".",".","7q32.1","exonic","TNPO3",23534,".","nonsynonymous SNV","TNPO3:NM_001191028:exon13:c.C1648T:p.R550C,TNPO3:NM_012470:exon14:c.C1840T:p.R614C","Muscular dystrophy, limb-girdle, type 1F, Autosomal dominant",".","rs745908119",{"v":8.25e-06,"d":"8.25E-06"},{"v":9.61e-05,"d":"9.61E-05"},0,0,0,0,0,0,".",".",".",".",".",".",1E-3,"D",1,"D",0.993,"D",0,"D",1,"D",2.19,"M",-0.32,"T",-6.81,"D",0.93,6.126,28.3,0.999,0.959,"D",0.009,"D",0.525,"D",0.707,0,4.92,0.917,0.143,1,0.999,10.693,"FamilyBased",".","ASD","WES",".","."]
[6153,25363768,7,142912625,142912625,"C","T","DeNovo",".",".","7q34","exonic","TRPV5",56302,".","nonsynonymous SNV","TRPV5:NM_019841:exon13:c.G1645A:p.V549M",".",".","rs765394613",{"v":2.47e-05,"d":"2.47E-05"},0,0,0,0.0003,{"v":1.5E-5,"d":"1.50E-05"},0,0,".",".",".",".",".",".",0.012,"D",1,"D",0.997,"D",0.003,"N",0.991,"D",2.71,"M",-2.06,"D",-1.16,"N",0.521,5.698,26.8,0.999,0.771,"D",0.651,"D",0.789,"D",0.57,0,5.79,0.871,0.935,0.611,0.233,19.386,"FamilyBased",".","ASD","WES",".","."]
[6165,25363768,7,144453610,144453610,"C","T","DeNovo",".",".","7q35","exonic","TPK1",27010,".","nonsynonymous SNV","TPK1:NM_001350889:exon6:c.G349A:p.G117R,TPK1:NM_001350885:exon7:c.G349A:p.G117R,TPK1:NM_001350887:exon7:c.G349A:p.G117R,TPK1:NM_001042482:exon8:c.G520A:p.G174R,TPK1:NM_001350880:exon8:c.G520A:p.G174R,TPK1:NM_001350884:exon8:c.G652A:p.G218R,TPK1:NM_001350893:exon8:c.G349A:p.G117R,TPK1:NM_001350894:exon8:c.G349A:p.G117R,TPK1:NM_001350879:exon9:c.G667A:p.G223R,TPK1:NM_001350883:exon9:c.G652A:p.G218R,TPK1:NM_001350886:exon9:c.G349A:p.G117R,TPK1:NM_022445:exon9:c.G667A:p.G223R,TPK1:NM_001350882:exon10:c.G652A:p.G218R,TPK1:NM_001350895:exon10:c.G316A:p.G106R","Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), Autosomal recessive;Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), Autosomal recessive",".","rs568804217",{"v":5.77E-5,"d":"5.77E-05"},0,{"v":8.68e-05,"d":"8.68E-05"},1E-4,0,{"v":1.5E-5,"d":"1.50E-05"},0,0.0002,".",".",".",".",".",".",0.054,"T",1,"D",0.974,"D",0.004,"N",1,"D",2.87,"M",-0.9,"T",-3.27,"D",0.881,4.67,24.5,0.999,0.798,"D",0.146,"D",0.616,"D",0.693,0,5.79,0.871,0.935,0.992,0.877,17.525,"FamilyBased",".","ASD","WES",".","."]
[6177,25363768,7,150477143,150477143,"C","T","DeNovo",".",".","7q36.1","exonic","GIMAP8",155038,".","nonsynonymous SNV","GIMAP8:NM_175571:exon5:c.C1361T:p.T454I",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.005,"D",0.999,"D",0.981,"D",0.19,"N",1,"N",2.07,"M",2.42,"T",-4.37,"D",0.481,4.112,23.7,0.996,0.283,"N",-1.076,"T",0.098,"T",0.707,0,3.56,0.871,0.852,0.051,0.008,10.021,"FamilyBased",".","ASD","WES",".","."]
[6201,25363768,7,158788029,158788029,"A","G","DeNovo",".",".","7q36.3","exonic","ESYT2",57488,".","nonsynonymous SNV","ESYT2:NM_020728:exon6:c.T866C:p.L289S",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1E-3,"D",1,"D",0.994,"D",0,"D",1,"D",1.83,"L",1.76,"T",-4.04,"D",0.913,5.849,27.3,0.999,0.99,"D",-0.91,"T",0.146,"T",0.745,0,5.41,1.058,1.188,0.999,0.97,14.939,"FamilyBased",".","ASD","WES",".","."]
[6214,25363768,8,9710174,9710174,"G","C","DeNovo",".",".","8p23.1","exonic","TNKS",8658,".","nonsynonymous SNV","TNKS:NM_003747:exon11:c.G1703C:p.R568T",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.339,"T",0.785,"P",0.739,"P",0,"D",1,"D",1.67,"L",-0.07,"T",-1.35,"N",0.713,4.317,24,0.979,0.987,"D",-0.681,"T",0.294,"T",0.719,0,5.29,0.917,1.048,0.999,0.966,12.742,"FamilyBased",".","ASD","WES",".","."]
[6236,25363768,8,19844098,19844098,"G","A","DeNovo",".",".","8p21.3","exonic","INTS10",55174,".","nonsynonymous SNV","INTS10:NM_018142:exon15:c.G1742A:p.R581K",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.425,"T",0.974,"D",0.969,"D",0,"D",1,"D",1.245,"L",1.05,"T",-0.38,"N",0.772,2.171,17.32,0.973,0.988,"D",-0.909,"T",0.201,"T",0.732,0,5.79,0.917,1.048,0.997,0.997,18.607,"FamilyBased",".","ASD","WES",".","."]
[6276,25363768,8,47915384,47915384,"C","A","DeNovo",".",".","8q11.21","exonic","PRKDC",5591,".","nonsynonymous SNV","PRKDC:NM_001081640:exon23:c.G2561T:p.R854I,PRKDC:NM_006904:exon23:c.G2561T:p.R854I","Immunodeficiency 26, with or without neurologic abnormalities, Autosomal recessive",".","rs779703969",0,0,0,0,0,0,0,0,".",".",".",".",".",".",1E-3,"D",0.977,"D",0.868,"P",0,"D",1,"D",".",".",3.57,"T",-5.9,"D",0.568,5.92,27.5,0.979,0.944,"D",-0.435,"T",0.347,"T",0.732,0,1.94,-0.048,0.049,0.99,0.974,10.083,"FamilyBased",".","ASD","WES",".","."]
[6310,25363768,8,86411780,86411780,"G","T","DeNovo",".",".","8q21.3","exonic","WWP1",11059,".","nonsynonymous SNV","WWP1:NM_007013:exon9:c.G967T:p.A323S",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.69,"T",2E-3,"B",0.012,"B",0.516,"N",0.669,"N",0,"N",0.84,"T",-0.28,"N",0.242,1.244,11.98,0.947,0.376,"N",-0.977,"T",0.068,"T",0.707,0,4.26,0.917,1.048,0.992,0.997,6.982,"FamilyBased",".","ASD","WES",".","."]
[6333,25363768,8,109564441,109564441,"A","T","DeNovo",".",".","8q23.2","exonic","EBAG9",9166,".","nonsynonymous SNV","EBAG9:NM_001278938:exon7:c.A524T:p.Q175L,EBAG9:NM_004215:exon7:c.A524T:p.Q175L,EBAG9:NM_198120:exon7:c.A524T:p.Q175L",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.005,"D",0.59,"P",0.282,"B",".",".",1,"D",0.895,"L",".",".",-4.3,"D",0.643,5.818,27.2,0.994,0.998,"D",-0.802,"T",0.156,"T",0.706,0,5.31,1.062,1.088,0.999,0.999,14.745,"FamilyBased",".","ASD","WES",".","."]
[6345,25363768,8,123128327,123128327,"G","C","DeNovo",".",".","8q24.13","exonic","TBC1D31",93594,".","nonsynonymous SNV","TBC1D31:NM_001330606:exon13:c.G1616C:p.R539T,TBC1D31:NM_001145088:exon14:c.G1931C:p.R644T,TBC1D31:NM_145647:exon14:c.G1931C:p.R644T",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.204,"T",0.06,"B",0.034,"B",1E-3,"D",1,"D",2.015,"M",1.89,"T",-2.41,"N",0.509,3.137,22.6,0.935,0.868,"D",-1.02,"T",0.065,"T",0.651,0,2.95,-0.011,0.1,0.992,0.998,9.51,"FamilyBased",".","ASD","WES",".","."]
[6368,25363768,8,143276653,143276653,"A","G","DeNovo",".",".","8q24.3","exonic","GLI4",2738,".","nonsynonymous SNV","GLI4:NM_138465:exon4:c.A980G:p.D327G",".",".","rs761860283",{"v":9.15e-06,"d":"9.15E-06"},0,0,0,0,0,0,{"v":6.3E-5,"d":"6.30E-05"},".",".",".",".",".",".",0.004,"D",0.642,"P",0.237,"B",".",".",0.987,"N",0.82,"L",3.2,"T",-4.78,"D",0.243,5.255,25.7,0.996,0.251,"N",-1.02,"T",0.019,"T",0.726,0,4,1.062,1.066,0.905,0.382,10.915,"FamilyBased",".","ASD","WES",".","."]
[6395,25363768,9,3828334,3828334,"A","C","DeNovo",".",".","9p24.2","exonic","GLIS3",169792,".","nonsynonymous SNV","GLIS3:NM_152629:exon10:c.T2266G:p.L756V,GLIS3:NM_001042413:exon11:c.T2731G:p.L911V","Diabetes mellitus, neonatal, with congenital hypothyroidism, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.004,"D",0.998,"D",0.996,"D",2E-3,"N",0.967,"D",0.975,"L",2.22,"T",-1.02,"N",0.459,4.408,24.1,0.997,0.738,"D",-1.107,"T",0.074,"T",0.554,0,0.943,0.126,1.193,0.978,0.983,8.422,"FamilyBased",".","ASD","WES",".","."]
[6422,25363768,9,21187407,21187407,"G","C","DeNovo",".",".","9p21.3","exonic","IFNA4",3441,".","nonsynonymous SNV","IFNA4:NM_021068:exon1:c.C125G:p.A42G",".",".","rs752150173",1E-4,0,0,0.0013,0,{"v":3.05e-05,"d":"3.05E-05"},0,0,".",".",".",".",".",".",0.759,"T",0,"B",0.003,"B",0.489,"N",1,"N",0.255,"N",3.49,"T",0.38,"N",0.019,-0.309,0.635,0.71,0.003,"N",-0.903,"T",0.009,"T",0.487,0,-0.327,-1.701,-0.879,0,1E-3,7.481,"FamilyBased",".","ASD","WES",".","."]
[6460,25363768,9,69432541,69432541,"C","T","DeNovo",".",".","9q21.12","exonic","APBA1",320,".","nonsynonymous SNV","APBA1:NM_001163:exon12:c.G2437A:p.G813R",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.025,"D",1,"D",1,"D",0,"D",1,"D",1.855,"L",1.53,"T",-6.29,"D",0.878,7.345,34,0.999,0.985,"D",-0.847,"T",0.188,"T",0.554,0,5.45,0.871,0.927,1,0.995,19.648,"FamilyBased",".","ASD","WES",".","."]
[6474,25363768,9,77317670,77317670,"A","T","DeNovo",".",".","9q21.2","exonic","VPS13A",23230,".","nonsynonymous SNV","VPS13A:NM_001018037:exon39:c.A4811T:p.D1604V,VPS13A:NM_001018038:exon40:c.A4928T:p.D1643V,VPS13A:NM_015186:exon40:c.A4928T:p.D1643V,VPS13A:NM_033305:exon40:c.A4928T:p.D1643V","Choreoacanthocytosis, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.07,"T",0.999,"D",0.979,"D",0,"D",1,"D",1.445,"L",0.67,"T",-4.08,"D",0.694,4.662,24.5,0.979,0.965,"D",-0.842,"T",0.214,"T",0.706,0,5.29,1.062,1.199,0.989,0.945,13.263,"FamilyBased",".","ASD","WES",".","."]
[6514,25363768,9,104504627,104504627,"G","A","DeNovo",".",".","9q31.1","exonic","OR13F1",138805,".","nonsynonymous SNV","OR13F1:NM_001004485:exon1:c.G365A:p.R122Q",".",".","rs752978468",{"v":9.06e-05,"d":"9.06E-05"},0,{"v":8.65e-05,"d":"8.65E-05"},0,0.0005,1E-4,0,0,".",".",".",".",".",".",0.009,"D",0.718,"P",0.133,"B",0,"D",0.988,"D",3.545,"H",-1.06,"T",-3.77,"D",0.559,5.312,25.8,0.999,0.987,"D",0.242,"D",0.482,"T",0.487,0,4.3,0.866,1.048,0.998,0.993,15.081,"FamilyBased",".","ASD","WES",".","."]
[6545,25363768,9,121124083,121124083,"A","T","DeNovo",".",".","9q33.2","exonic","CNTRL",11064,".","nonsynonymous SNV","CNTRL:NM_001330762:exon2:c.A147T:p.E49D,CNTRL:NM_007018:exon11:c.A1803T:p.E601D",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.837,"T",0.009,"B",0.016,"B",".",".",0.978,"N",0.345,"N",2,"T",0.45,"N",0.053,0.848,9.759,0.979,0.556,"D",-0.979,"T",0.028,"T",0.66,0,3.18,-0.447,0.158,0.907,0.997,1.837,"FamilyBased",".","ASD","WES",".","."]
[6561,25363768,9,126879551,126879551,"A","G","DeNovo",".",".","9q33.3","exonic","ZBTB34",403341,".","nonsynonymous SNV","ZBTB34:NM_001099270:exon2:c.A140G:p.K47R",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",0.573,"P",0.333,"B",0,"D",1,"D",-0.385,"N",-0.81,"T",0.26,"N",0.368,5.149,25.4,0.998,0.99,"D",-0.744,"T",0.198,"T",0.737,0,5.67,1.062,1.199,1,1,16.2,"FamilyBased",".","ASD","WES",".","."]
[6581,25363768,9,131077303,131077303,"A","G","DeNovo",".",".","9q34.12","exonic","LAMC3",10319,".","nonsynonymous SNV","LAMC3:NM_006059:exon22:c.A3746G:p.Y1249C","Cortical malformations, occipital, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.175,"T",0.109,"B",0.018,"B",0.225,"N",1,"N",0,"N",1.7,"T",-1.89,"N",0.216,-1.04,0.013,0.369,2E-3,"N",-1.039,"T",0.025,"T",0.617,1,-9.26,-0.581,-0.638,0.004,0,5.126,"FamilyBased",".","ASD","WES",".","."]
[6598,25363768,9,135698331,135698331,"C","T","DeNovo",".",".","9q34.3","exonic","SOHLH1",402381,".","nonsynonymous SNV","SOHLH1:NM_001012415:exon3:c.G343A:p.A115T,SOHLH1:NM_001101677:exon3:c.G343A:p.A115T",".",".","rs149838416",{"v":2.5e-05,"d":"2.50E-05"},0,{"v":8.66e-05,"d":"8.66E-05"},0,0,{"v":3.05e-05,"d":"3.05E-05"},0,0,".",".",".",".",".",".",0.028,"D",0.229,"B",0.014,"B",".",".",1,"N",1.175,"L",1.56,"T",-0.25,"N",0.041,0.242,5.111,0.931,0.009,"N",-1.018,"T",0.034,"T",0.515,0,-5.87,-0.717,-1.011,0.079,0.006,1.594,"FamilyBased",".","ASD","WES",".","."]
[6636,25363768,10,3165429,3165429,"G","A","DeNovo",".",".","10p15.2","exonic","PITRM1",10531,".","nonsynonymous SNV","PITRM1:NM_001242309:exon4:c.C421T:p.R141C,PITRM1:NM_001242307:exon5:c.C517T:p.R173C,PITRM1:NM_001347725:exon5:c.C517T:p.R173C,PITRM1:NM_001347729:exon5:c.C493T:p.R165C,PITRM1:NM_001347730:exon5:c.C493T:p.R165C,PITRM1:NM_014889:exon5:c.C517T:p.R173C",".","ID=COSM258671;OCCURENCE=1(large_intestine)","rs770738350",{"v":4.59e-05,"d":"4.59E-05"},0,0,0,0,{"v":8.15e-05,"d":"8.15E-05"},0,0,".",".",".",".",".",".",1E-3,"D",0.999,"D",0.977,"D",0,"D",1,"D",2.825,"M",1.53,"T",-5.48,"D",0.688,6.93,33,0.999,0.931,"D",-0.483,"T",0.221,"T",0.732,0,3.23,-0.747,0.04,0.855,0.254,15.276,"FamilyBased",".","ASD","WES",".","."]
[6647,25363768,10,11747384,11747384,"C","T","DeNovo",".",".","10p14","exonic","ECHDC3",79746,".","nonsynonymous SNV","ECHDC3:NM_024693:exon2:c.C206T:p.A69V",".",".","rs201298433",{"v":8.24e-06,"d":"8.24E-06"},0,{"v":8.64e-05,"d":"8.64E-05"},0,0,0,0,0,".",".",".",".",".",".",0.1,"T",0.975,"D",0.771,"P",0,"D",1,"D",3.115,"M",0.44,"T",-2.78,"D",0.491,4.929,25,0.999,0.837,"D",0.209,"D",0.549,"D",0.706,0,5.53,0.824,0.935,0.99,0.734,18.433,"FamilyBased",".","ASD","WES",".","."]
[6661,25363768,10,17157485,17157485,"G","T","DeNovo",".",".","10p13","exonic","TRDMT1",1787,".","nonsynonymous SNV","TRDMT1:NM_001321006:exon6:c.C600A:p.D200E,TRDMT1:NM_001351221:exon6:c.C705A:p.D235E,TRDMT1:NM_001351219:exon8:c.C843A:p.D281E,TRDMT1:NM_001351220:exon8:c.C843A:p.D281E,TRDMT1:NM_004412:exon8:c.C843A:p.D281E,TRDMT1:NM_001321007:exon9:c.C630A:p.D210E,TRDMT1:NM_001351222:exon9:c.C630A:p.D210E,TRDMT1:NM_001351223:exon9:c.C630A:p.D210E",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.003,"D",1,"D",0.998,"D",0,"D",1,"D",2.755,"M",0.88,"T",-3.15,"D",0.646,4,23.6,0.995,0.92,"D",-0.432,"T",0.349,"T",0.706,0,-1.83,-0.029,-0.285,0.877,0.506,11.035,"FamilyBased",".","ASD","WES",".","."]
[6706,25363768,10,60074069,60074069,"A","G","DeNovo",".",".","10q21.2","exonic","ANK3",288,".","nonsynonymous SNV","ANK3:NM_020987:exon37:c.T6812C:p.M2271T",".",".","rs746178496",{"v":8.24e-06,"d":"8.24E-06"},0,0,0,0,{"v":1.5E-5,"d":"1.50E-05"},0,0,".",".",".",".",".",".",0,"D",0.956,"P",0.549,"P",0,"D",1,"D",1.955,"M",-0.83,"T",-4.14,"D",0.797,3.12,22.6,0.974,0.995,"D",-0.3,"T",0.404,"T",0.487,0,5.92,1.062,1.187,1,1,16.361,"FamilyBased",".","ASD","WES",".","."]
[6734,25363768,10,75022090,75022090,"C","A","DeNovo",".",".","10q22.2","exonic","KAT6B",23522,".","nonsynonymous SNV","KAT6B:NM_001256468:exon16:c.C2682A:p.D894E,KAT6B:NM_001256469:exon16:c.C2355A:p.D785E,KAT6B:NM_012330:exon16:c.C3231A:p.D1077E","Genitopatellar syndrome, Autosomal dominant;SBBYSS syndrome",".","rs11001247",".",".",".",".",".",".",".",".",0.000798722,"Likely benign","KAT6B-Related_Spectrum_Disorders","RCV000376409.1","MedGen","CN239406",1,"T",0,"B",1E-3,"B",0.027,"N",1,"N",-0.695,"N",2.24,"T",0,"N",0.078,-3.652,1E-3,0.639,0.102,"N",-0.834,"T",0.087,"T",0.707,0,-10.1,-1.793,-3.614,0.612,0.008,5.254,"FamilyBased",".","ASD","WES",".","."]
[6757,25363768,10,95238625,95238625,"G","A","DeNovo",".",".","10q23.33","exonic","PDLIM1",9124,".","nonsynonymous SNV","PDLIM1:NM_020992:exon6:c.C746T:p.A249V",".",".","rs565368926",{"v":1.65e-05,"d":"1.65E-05"},0,0,0,0,{"v":1.5E-5,"d":"1.50E-05"},0,{"v":6.06e-05,"d":"6.06E-05"},1.99681E-4,".",".",".",".",".",0.008,"D",0.997,"D",0.647,"P",0,"D",1,"D",2.28,"M",1.99,"T",-2.16,"N",0.337,6.946,33,0.999,0.976,"D",-0.979,"T",0.103,"T",0.707,0,5.24,0.917,1.048,0.994,0.991,17.806,"FamilyBased",".","ASD","WES",".","."]
[6776,25363768,10,102148866,102148866,"G","A","DeNovo",".",".","10q24.32","exonic","PPRC1",23082,".","nonsynonymous SNV","PPRC1:NM_001288727:exon10:c.G3875A:p.R1292Q,PPRC1:NM_001288728:exon12:c.G4301A:p.R1434Q,PPRC1:NM_015062:exon12:c.G4667A:p.R1556Q",".",".","rs370946381",1E-4,0,{"v":8.64e-05,"d":"8.64E-05"},0,0,0.0002,0,0,".",".",".",".",".",".",0.039,"D",0.994,"D",0.927,"D",0,"D",0.998,"D",0.805,"L",2.44,"T",-2.37,"N",0.59,5.461,26.1,0.999,0.916,"D",-1.099,"T",0.071,"T",0.672,0,5.73,0.917,0.867,0.992,0.978,16.178,"FamilyBased",".","ASD","WES",".","."]
[6806,25363768,10,119117607,119117607,"G","A","DeNovo",".",".","10q26.11","exonic","FAM45A",404636,".","nonsynonymous SNV","FAM45A:NM_001303112:exon4:c.G202A:p.G68S,FAM45A:NM_207009:exon4:c.G421A:p.G141S,FAM45A:NM_001303111:exon5:c.G397A:p.G133S",".",".","rs777173813",{"v":1.65e-05,"d":"1.65E-05"},0,0,1E-4,0,{"v":1.5E-5,"d":"1.50E-05"},0,0,".",".",".",".",".",".",0.116,"T",1,"D",1,"D",0,"D",1,"D",2.16,"M",".",".",-3.75,"D",0.803,6.099,28.2,0.999,0.985,"D",-0.159,"T",0.445,"T",0.563,0,5.86,0.917,0.967,1,1,18.376,"FamilyBased",".","ASD","WES",".","."]
[6815,25363768,10,125831432,125831432,"G","T","DeNovo",".",".","10q26.2","exonic","BCCIP",56647,".","nonsynonymous SNV","BCCIP:NM_016567:exon5:c.G424T:p.V142F,BCCIP:NM_078468:exon5:c.G424T:p.V142F,BCCIP:NM_078469:exon5:c.G424T:p.V142F",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.026,"D",0.973,"D",0.765,"P",1E-3,"N",0.784,"N",2.14,"M",0.85,"T",-3.32,"D",0.511,6.095,28.2,0.996,0.951,"D",-0.554,"T",0.228,"T",0.707,0,4.32,0.917,1.048,0.988,0.986,14.205,"FamilyBased",".","ASD","WES",".","."]
[6850,25363768,11,800598,800598,"C","T","DeNovo",".",".","11p15.5","exonic","PIDD1",55367,".","nonsynonymous SNV","PIDD1:NM_145886:exon12:c.G1986A:p.M662I,PIDD1:NM_145887:exon12:c.G1986A:p.M662I",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.366,"T",0.061,"B",0.012,"B",0.026,"N",0.68,"N",0.345,"N",1.2,"T",-1.01,"N",0.185,1.706,14.44,0.961,0.92,"D",-1.054,"T",0.053,"T",0.672,0,1.64,-0.064,0.739,0.996,0.995,7.539,"FamilyBased",".","ASD","WES",".","."]
[6872,25363768,11,1248528,1248528,"C","T","DeNovo",".",".","11p15.5","exonic","MUC5B",727897,".","nonsynonymous SNV","MUC5B:NM_002458:exon31:c.C11648T:p.T3883M",".","ID=COSM3735411,COSM3735410;OCCURENCE=1(skin)","rs188096070",0.0008,0.0009,0,0,0.0021,0.0009,2.3E-3,0.0007,".",".",".",".",".",".",1E-3,"D",0.998,"D",0.725,"P",".",".",1,"N",2.215,"M",2.18,"T",-1.19,"N",0.047,0.588,8.071,0.571,0.022,"N",-1.052,"T",0.059,"T",0.554,0,0.092,0.666,-0.368,0.083,1E-3,7.721,"FamilyBased",".","ASD","WES",".","."]
[6916,25363768,11,10800194,10800194,"G","A","DeNovo",".",".","11p15.4","exonic","EIF4G2",1982,".","nonsynonymous SNV","EIF4G2:NM_001042559:exon17:c.C1901T:p.P634L,EIF4G2:NM_001172705:exon18:c.C2015T:p.P672L,EIF4G2:NM_001418:exon18:c.C2015T:p.P672L",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",0.999,"D",0,"D",".",".",2.485,"M",1.01,"T",-8.93,"D",0.872,6.874,33,0.999,0.982,"D",-0.469,"T",0.312,"T",0.672,0,5.95,0.917,1.048,0.999,1,20.375,"FamilyBased",".","ASD","WES",".","."]
[6942,25363768,11,20118196,20118196,"G","A","DeNovo",".",".","11p15.1","exonic","NAV2",89797,".","nonsynonymous SNV","NAV2:NM_001111019:exon28:c.G4420A:p.D1474N,NAV2:NM_001111018:exon38:c.G7036A:p.D2346N,NAV2:NM_145117:exon38:c.G7228A:p.D2410N,NAV2:NM_182964:exon38:c.G7237A:p.D2413N,NAV2:NM_001244963:exon40:c.G7405A:p.D2469N",".",".","rs766434688",{"v":8.24e-06,"d":"8.24E-06"},0,0,0,0,{"v":1.5E-5,"d":"1.50E-05"},0,0,".",".",".",".",".",".",1E-3,"D",1,"D",0.998,"D",0,"D",1,"D",2.295,"M",2.63,"T",-3.04,"D",0.187,6.139,28.4,0.998,0.987,"D",-0.585,"T",0.277,"T",0.707,0,5.32,0.917,1.048,1,0.998,18.603,"FamilyBased",".","ASD","WES",".","."]
[6955,25363768,11,33710221,33710221,"C","T","DeNovo",".",".","11p13","exonic","CD59",966,".","nonsynonymous SNV","CD59:NM_001127223:exon3:c.G292A:p.E98K,CD59:NM_000611:exon4:c.G292A:p.E98K,CD59:NM_001127225:exon4:c.G292A:p.E98K,CD59:NM_001127226:exon4:c.G292A:p.E98K,CD59:NM_001127227:exon4:c.G292A:p.E98K,CD59:NM_203329:exon5:c.G292A:p.E98K,CD59:NM_203331:exon5:c.G292A:p.E98K,CD59:NM_203330:exon6:c.G292A:p.E98K","Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy, Autosomal recessive","ID=COSM3809135;OCCURENCE=1(breast)","rs754311428",{"v":1.65e-05,"d":"1.65E-05"},0,0,0,0,{"v":3e-05,"d":"3.00E-05"},0,0,".",".",".",".",".",".",0.468,"T",0.022,"B",1E-3,"B",".",".",1,"N",0.805,"L",2.9,"T",-0.17,"N",0.423,0.401,6.621,0.737,0.057,"N",-0.629,"T",0.48,"T",0.722,0,-3.19,0.143,-0.346,0.058,0,1.641,"FamilyBased",".","ASD","WES",".","."]
[6976,25363768,11,47448832,47448832,"C","T","DeNovo",".",".","11p11.2","exonic","RAPSN",5913,".","nonsynonymous SNV","RAPSN:NM_005055:exon1:c.G133A:p.V45M,RAPSN:NM_032645:exon1:c.G133A:p.V45M","Fetal akinesia deformation sequence, Autosomal recessive;Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, Autosomal recessive",".","rs121909254",{"v":4.13e-05,"d":"4.13E-05"},0,0,0,0,{"v":7.52e-05,"d":"7.52E-05"},0,0,".","Pathogenic","Myasthenic_syndrome\\x2c_congenital\\x2c_11\\x2c_associated_with_acetylcholine_receptor_deficiency","RCV000008521.4","MedGen:OMIM","C1837094:616326",0.019,"D",0.999,"D",0.919,"D",0,"D",1,"A",1.61,"L",-1.64,"D",-0.42,"N",0.947,7.058,33,0.999,0.975,"D",0.294,"D",0.647,"D",0.581,0,5.58,0.871,0.935,0.996,0.995,19.56,"FamilyBased",".","ASD","WES",".","."]
[6988,25363768,11,56490916,56490916,"G","A","DeNovo",".",".","11q12.1","exonic","OR5M8",219484,".","nonsynonymous SNV","OR5M8:NM_001005282:exon1:c.C455T:p.A152V",".","ID=COSM40972;OCCURENCE=1(central_nervous_system)","rs201389871",1E-4,0,{"v":8.64e-05,"d":"8.64E-05"},0,0,0.0002,0,0,1.99681E-4,".",".",".",".",".",0.008,"D",0.015,"B",0.013,"B",0.151,"N",1,"N",-0.255,"N",8.83,"T",0.15,"N",0.092,1.361,12.58,0.951,0.01,"N",-1.027,"T",0,"T",0.487,0,-1.13,0.897,-0.284,0.955,0,5.19,"FamilyBased",".","ASD","WES",".","."]
[7008,25363768,11,61258922,61258922,"C","T","DeNovo",".",".","11q12.2","exonic","VWCE",220001,".","nonsynonymous SNV","VWCE:NM_152718:exon20:c.G2621A:p.R874H",".",".","rs778051191",{"v":1.85e-05,"d":"1.85E-05"},0,{"v":8.83e-05,"d":"8.83E-05"},0,0,{"v":1.6e-05,"d":"1.60E-05"},0,0,".",".",".",".",".",".",0.292,"T",0.875,"P",0.142,"B",0.553,"N",1,"N",0.69,"N",3.48,"T",-0.66,"N",0.11,2.463,19.23,0.95,0.023,"N",-0.997,"T",0.123,"T",0.706,0,1.09,-1.635,-0.378,1E-3,0.007,3.383,"FamilyBased",".","ASD","WES",".","."]
[7028,25363768,11,63915247,63915247,"G","A","DeNovo",".",".","11q13.1","exonic","RCOR2",283248,".","nonsynonymous SNV","RCOR2:NM_173587:exon3:c.C196T:p.R66C",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1E-3,"D",1,"D",0.848,"P",0,"D",1,"D",1.545,"L",0.83,"T",-3.61,"D",0.491,5.397,26,0.999,0.888,"D",-0.779,"T",0.213,"T",0.581,0,4.67,0.917,0.949,0.695,1,16.713,"FamilyBased",".","ASD","WES",".","."]
[7048,25363768,11,65541165,65541165,"C","T","DeNovo",".",".","11q13.1","exonic","LTBP3",4054,".","nonsynonymous SNV","LTBP3:NM_001130144:exon20:c.G2854A:p.D952N,LTBP3:NM_001164266:exon20:c.G2503A:p.D835N,LTBP3:NM_021070:exon20:c.G2854A:p.D952N","Dental anomalies and short stature, Autosomal recessive",".","rs756826691",{"v":8.42e-06,"d":"8.42E-06"},0,0,0,0,{"v":1.53e-05,"d":"1.53E-05"},0,0,".",".",".",".",".",".",0.011,"D",1,"D",1,"D",0,"D",1,"D",2.135,"M",-3.11,"D",-4.58,"D",0.086,6.228,28.8,0.999,0.939,"D",-0.405,"T",0.344,"T",0.652,0,4.32,0.871,0.807,0.998,1,14.288,"FamilyBased",".","ASD","WES",".","."]
[7074,25363768,11,68158808,68158808,"G","A","DeNovo",".",".","11q13.2","exonic","KMT5B",51111,".","nonsynonymous SNV","KMT5B:NM_001300908:exon11:c.C818T:p.A273V,KMT5B:NM_017635:exon11:c.C1538T:p.A513V,KMT5B:NM_001300907:exon12:c.C1022T:p.A341V",".",".","rs377163167",{"v":1.65e-05,"d":"1.65E-05"},{"v":9.8e-05,"d":"9.80E-05"},0,0,0,{"v":1.5E-5,"d":"1.50E-05"},0,0,".",".",".",".",".",".",0.004,"D",1,"D",0.986,"D",0,"D",1,"D",0.975,"L",0.36,"T",-0.7,"N",0.694,5.808,27.1,0.999,0.995,"D",-0.612,"T",0.26,"T",0.651,0,5.2,0.917,0.923,0.97,0.933,18.93,"FamilyBased",".","ASD","WES",".","."]
[7119,25363768,11,92790135,92790135,"C","T","DeNovo",".",".","11q14.3","exonic","FAT3",120114,".","nonsynonymous SNV","FAT3:NM_001008781:exon7:c.C4528T:p.R1510W",".","ID=COSM275109,COSM275108;OCCURENCE=1(large_intestine)","rs377563244",{"v":4.15e-05,"d":"4.15E-05"},0,0,0,0,{"v":1.5E-5,"d":"1.50E-05"},0.0011,0.0002,".",".",".",".",".",".",1E-3,"D",1,"D",0.996,"D",".",".",1,"D",2.575,"M",4.63,"T",-5.24,"D",0.926,7.854,35,0.999,0.932,"D",-1.252,"T",0.025,"T",0.615,0,5.21,0.871,0.935,1,0.998,12.783,"FamilyBased",".","ASD","WES",".","."]
[7129,25363768,11,95847830,95847830,"T","C","DeNovo",".",".","11q21","exonic","MTMR2",8898,".","nonsynonymous SNV","MTMR2:NM_016156:exon10:c.A1063G:p.N355D,MTMR2:NM_201281:exon11:c.A847G:p.N283D,MTMR2:NM_201278:exon12:c.A847G:p.N283D,MTMR2:NM_001243571:exon13:c.A847G:p.N283D","Charcot-Marie-Tooth disease, type 4B1, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",0.999,"D",0,"D",1,"D",2.97,"M",-2.77,"D",-4.77,"D",0.535,5.741,26.9,0.998,0.987,"D",0.954,"D",0.87,"D",0.706,0,5.65,0.991,1.061,0.999,0.996,15.882,"FamilyBased",".","ASD","WES",".","."]
[7152,25363768,11,113760912,113760912,"G","A","DeNovo",".",".","11q23.2","exonic","ZW10",9183,".","nonsynonymous SNV","ZW10:NM_004724:exon3:c.C247T:p.R83W",".",".","rs567153394",{"v":6.63e-05,"d":"6.63E-05"},0,0,1E-4,0,{"v":4.52e-05,"d":"4.52E-05"},0,0.0002,1.99681E-4,".",".",".",".",".",0.036,"D",0.996,"D",0.809,"P",2E-3,"N",0.99,"D",1.39,"L",0.92,"T",-2.53,"D",0.493,6.401,29.6,0.998,0.964,"D",-0.843,"T",0.157,"T",0.732,0,4.35,0.917,0.092,0.479,0.95,12.931,"FamilyBased",".","ASD","WES",".","."]
[7175,25363768,11,119160907,119160907,"C","T","DeNovo",".",".","11q23.3","exonic","ABCG4",64137,".","nonsynonymous SNV","ABCG4:NM_001142505:exon15:c.C1742T:p.T581M,ABCG4:NM_001348191:exon15:c.C1742T:p.T581M,ABCG4:NM_022169:exon15:c.C1742T:p.T581M,ABCG4:NM_001348192:exon16:c.C1559T:p.T520M",".","ID=COSM1351790;OCCURENCE=1(large_intestine)",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.952,"P",0.681,"P",0,"D",1,"D",1.04,"L",".",".",".",".",0.584,5.198,25.5,0.999,0.979,"D",-0.321,"T",0.346,"T",0.554,0,5.52,0.871,0.852,0.999,0.989,19.091,"FamilyBased",".","ASD","WES",".","."]
[7188,25363768,11,123606651,123606651,"G","A","DeNovo",".",".","11q24.1","exonic","GRAMD1B",57476,".","nonsynonymous SNV","GRAMD1B:NM_001286564:exon10:c.G817A:p.G273R,GRAMD1B:NM_020716:exon10:c.G937A:p.G313R,GRAMD1B:NM_001286563:exon11:c.G958A:p.G320R,GRAMD1B:NM_001330396:exon11:c.G817A:p.G273R",".",".","rs749953166",{"v":1.82e-05,"d":"1.82E-05"},0,0,0,0,{"v":1.62e-05,"d":"1.62E-05"},0,{"v":6.8e-05,"d":"6.80E-05"},".",".",".",".",".",".",0.242,"T",0.96,"D",0.312,"B",0.005,"N",0.842,"D",0,"N",1.96,"T",-0.13,"N",0.361,2.376,18.66,0.973,0.275,"N",-1.045,"T",0.029,"T",0.651,0,4.06,0.917,0.953,0.883,0.989,4.396,"FamilyBased",".","ASD","WES",".","."]
[7209,25363768,11,130188184,130188184,"G","A","DeNovo",".",".","11q24.3","exonic","ST14",6768,".","nonsynonymous SNV","ST14:NM_021978:exon2:c.G152A:p.G51D","Ichthyosis, congenital, autosomal recessive 11, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.013,"D",0.999,"D",0.981,"D",0.003,"N",1,"D",1.28,"L",-2.27,"D",-1.79,"N",0.664,3.878,23.5,0.996,0.734,"D",0.328,"D",0.666,"D",0.718,0,4.03,0.917,1.048,0.957,0.526,11.149,"FamilyBased",".","ASD","WES",".","."]
[7223,25363768,12,6018901,6018901,"G","A","DeNovo",".",".","12p13.31","exonic","VWF",7450,".","nonsynonymous SNV","VWF:NM_000552:exon28:c.C4517T:p.S1506L","von Willebrand disease, type 1, Autosomal dominant;von Willebrand disease, types 2A, 2B, 2M, and 2N, Autosomal recessive, Autosomal dominant;von Willibrand disease, type 3, Autosomal recessive",".","rs61750100",".",".",".",".",".",".",".",".",".","not provided","not_provided","RCV000086774.1","MedGen","CN221809",0.006,"D",1,"D",1,"D",0.178,"N",1,"D",4.4,"H",-5.05,"D",-3.09,"D",0.843,6.311,29.2,0.999,0.993,"D",1.05,"D",0.982,"D",0.672,0,3.99,-0.045,1.044,0.133,0.585,12.126,"FamilyBased",".","ASD","WES",".","."]
[7248,25363768,12,9113374,9113374,"A","G","DeNovo",".",".","12p13.31","exonic","A2M",2,".","nonsynonymous SNV","A2M:NM_000014:exon2:c.T256C:p.C86R,A2M:NM_001347423:exon3:c.T256C:p.C86R","Alpha-2-macroglobulin deficiency, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1E-3,"D",1,"D",1,"D",0,"D",1,"D",3.085,"M",3.06,"T",-10.39,"D",0.95,4.28,24,0.985,0.926,"D",-1.004,"T",0.088,"T",0.554,0,5.02,1.062,1.199,0.021,0.115,11.416,"FamilyBased",".","ASD","WES",".","."]
[7269,25363768,12,20711418,20711418,"A","G","DeNovo",".",".","12p12.2","exonic","SLCO1C1",53919,".","nonsynonymous SNV","SLCO1C1:NM_001145944:exon3:c.A83G:p.N28S,SLCO1C1:NM_017435:exon5:c.A437G:p.N146S,SLCO1C1:NM_001145945:exon6:c.A437G:p.N146S,SLCO1C1:NM_001145946:exon6:c.A437G:p.N146S",".",".","rs772875437",{"v":8.24e-06,"d":"8.24E-06"},0,0,0,0,{"v":1.5E-5,"d":"1.50E-05"},0,0,".",".",".",".",".",".",0.073,"T",0.999,"D",0.984,"D",0.934,"N",0.972,"D",2.28,"M",1.14,"T",-3.4,"D",0.139,3.634,23.2,0.998,0.954,"D",-0.866,"T",0.226,"T",0.487,0,3.25,1.062,1.088,0.474,0.978,8.423,"FamilyBased",".","ASD","WES",".","."]
[7296,25363768,12,48525702,48525702,"G","A","DeNovo",".",".","12q13.11","exonic","OR8S1",341568,".","nonsynonymous SNV","OR8S1:NM_001005203:exon1:c.G71A:p.R24Q",".",".","rs770200018",{"v":2.47e-05,"d":"2.47E-05"},0,0,1E-4,0,{"v":3e-05,"d":"3.00E-05"},0,0,".",".",".",".",".",".",1,"T",0,"B",0,"B",0.891,"N",1,"N",-1.685,"N",8.54,"T",2.77,"N",0.044,-0.103,1.711,0.225,1E-3,"N",-1.046,"T",0,"T",0.497,0,2.61,-1.364,-0.206,0.006,0.188,6.688,"FamilyBased",".","ASD","WES",".","."]
[7318,25363768,12,51196813,51196813,"T","G","DeNovo",".",".","12q13.13","exonic","POU6F1",5463,".","nonsynonymous SNV","POU6F1:NM_001330422:exon7:c.A961C:p.N321H",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",2E-3,"D",0.984,"D",0.979,"D",0.617,"N",1,"D",2.045,"M",-2.31,"D",-3.13,"D",0.332,5.433,26.1,0.985,0.982,"D",0.113,"D",0.798,"D",0.646,0,5.88,0.991,1.057,0.998,1,15.318,"FamilyBased",".","ASD","WES",".","."]
[7343,25363768,12,55294463,55294463,"T","C","DeNovo",".",".","12q13.2","exonic","OR6C6",283365,".","nonsynonymous SNV","OR6C6:NM_001005493:exon1:c.A770G:p.Y257C",".",".","rs752157354",{"v":8.28e-06,"d":"8.28E-06"},0,0,0,0,{"v":1.5E-5,"d":"1.50E-05"},0,0,".",".",".",".",".",".",0.011,"D",0.529,"P",0.443,"B",0,"D",0.967,"D",3.86,"H",8.25,"T",-8.54,"D",0.669,5.173,25.5,0.997,0.205,"N",-0.999,"T",2E-3,"T",0.487,0,4.33,0.938,1.025,0.993,0.997,13.634,"FamilyBased",".","ASD","WES",".","."]
[7364,25363768,12,57028838,57028838,"C","T","DeNovo",".",".","12q13.3","exonic","MYO1A",4640,".","nonsynonymous SNV","MYO1A:NM_005379:exon28:c.G3049A:p.V1017I,MYO1A:NM_001256041:exon29:c.G3049A:p.V1017I",".",".","rs373699223",1E-4,1E-3,0.0002,0,0,{"v":3e-05,"d":"3.00E-05"},0.0011,0,1.99681E-4,".",".",".",".",".",1,"T",0.004,"B",0.005,"B",0.004,"N",1,"D",-1.345,"N",1.37,"T",0.08,"N",0.03,0.547,7.783,0.685,0.116,"N",-0.974,"T",0.022,"T",0.516,0,-0.263,0.057,-0.297,0.642,0.563,7.509,"FamilyBased",".","ASD","WES",".","."]
[7394,25363768,12,71583676,71583676,"G","C","DeNovo",".",".","12q21.1","exonic","LGR5",8549,".","nonsynonymous SNV","LGR5:NM_001277226:exon17:c.G1594C:p.D532H,LGR5:NM_001277227:exon17:c.G1450C:p.D484H,LGR5:NM_003667:exon18:c.G1666C:p.D556H",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.014,"D",0.855,"P",0.69,"P",0,"D",1,"D",1.625,"L",-2.01,"D",-1.91,"N",0.314,3.469,23,0.994,0.995,"D",0.309,"D",0.647,"D",0.487,0,5.84,0.917,1.048,0.705,0.86,20.135,"FamilyBased",".","ASD","WES",".","."]
[7422,25363768,12,101305959,101305959,"A","G","DeNovo",".",".","12q23.2","exonic","UTP20",27340,".","nonsynonymous SNV","UTP20:NM_014503:exon16:c.A1826G:p.Y609C",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.135,"T",1,"D",0.971,"D",0,"D",1,"D",2.14,"M",-0.16,"T",-2.97,"D",0.858,4.518,24.3,0.998,0.988,"D",-0.296,"T",0.408,"T",0.707,0,5.61,1.062,1.088,1,1,15.807,"FamilyBased",".","ASD","WES",".","."]
[7451,25363768,12,112865472,112865472,"C","T","DeNovo",".",".","12q24.13","exonic","RPH3A",22895,".","nonsynonymous SNV","RPH3A:NM_001347955:exon5:c.C88T:p.R30C,RPH3A:NM_014954:exon5:c.C277T:p.R93C,RPH3A:NM_001143854:exon6:c.C289T:p.R97C,RPH3A:NM_001347952:exon6:c.C289T:p.R97C,RPH3A:NM_001347953:exon6:c.C289T:p.R97C,RPH3A:NM_001347954:exon6:c.C289T:p.R97C",".",".","rs200472051",{"v":8.24e-05,"d":"8.24E-05"},0.0003,0,0,0,{"v":7.49e-05,"d":"7.49E-05"},0,1E-4,".",".",".",".",".",".",0.224,"T",0.138,"B",0.031,"B",0,"D",1,"D",0.72,"N",-1.04,"T",-3.58,"D",0.672,5.614,26.6,0.999,0.924,"D",-0.625,"T",0.274,"T",0.487,0,4.72,0.871,0.852,1,1,13.716,"FamilyBased",".","ASD","WES",".","."]
[7489,25363768,12,123436164,123436164,"A","G","DeNovo",".",".","12q24.31","exonic","RILPL2",196383,".","nonsynonymous SNV","RILPL2:NM_145058:exon1:c.T257C:p.L86P",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.061,"T",0.412,"B",0.062,"B",0.413,"N",0.999,"N",0,"N",0.8,"T",-1.99,"N",0.198,1.228,11.89,0.822,0.153,"N",-1.036,"T",0.062,"T",0.733,0,-5.02,1.062,0.21,0.932,0.425,13.248,"FamilyBased",".","ASD","WES",".","."]
[7503,25363768,12,130874576,130874576,"C","T","DeNovo",".",".","12q24.33","exonic","RAN",5901,".","nonsynonymous SNV","RAN:NM_001300796:exon4:c.C14T:p.T5I,RAN:NM_001300797:exon4:c.C14T:p.T5I,RAN:NM_006325:exon5:c.C278T:p.T93I",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",0.99,"D",0,"D",1,"D",3.045,"M",-1.66,"D",-5.39,"D",0.789,6.163,28.5,0.999,0.94,"D",0.733,"D",0.752,"D",0.722,0,3.93,0.871,0.935,0.995,0.976,15.318,"FamilyBased",".","ASD","WES",".","."]
[7532,25363768,13,35123490,35123490,"A","G","DeNovo",".",".","13q13.3","exonic","NBEA",26960,".","nonsynonymous SNV","NBEA:NM_015678:exon17:c.A2252G:p.Y751C",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.048,"D",0.006,"B",0.005,"B",0,"D",1,"D",1.79,"L",-0.09,"T",-5.46,"D",0.592,3.747,23.3,0.99,0.982,"D",-0.729,"T",0.217,"T",0.638,0,4.6,1.062,1.14,1,1,13.663,"FamilyBased",".","ASD","WES",".","."]
[7560,25363768,13,77903347,77903347,"C","T","DeNovo",".",".","13q22.3","exonic","EDNRB",1910,".","nonsynonymous SNV","EDNRB:NM_001122659:exon3:c.G610A:p.A204T,EDNRB:NM_003991:exon3:c.G610A:p.A204T,EDNRB:NM_000115:exon4:c.G610A:p.A204T,EDNRB:NM_001201397:exon4:c.G880A:p.A294T","ABCD syndrome, Autosomal recessive;Waardenburg syndrome, type 4A, Autosomal recessive, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.045,"D",0.549,"P",0.531,"P",0,"D",1,"D",1.115,"L",1.25,"T",-2.19,"N",0.766,5.563,26.4,0.999,0.955,"D",-0.959,"T",0.126,"T",0.706,0,5.14,0.871,0.935,0.999,0.999,18.953,"FamilyBased",".","ASD","WES",".","."]
[7593,25363768,14,20584278,20584278,"A","G","DeNovo",".",".","14q11.2","exonic","RNASE11",122651,".","nonsynonymous SNV","RNASE11:NM_145250:exon3:c.T197C:p.M66T",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.014,"D",0.004,"B",1E-3,"B",0.347,"N",1,"N",0.55,"N",1.37,"T",-2.23,"N",0.271,-0.317,0.608,0.848,0.013,"N",-1,"T",0.057,"T",0.487,0,-0.343,-0.181,-0.405,1E-3,0.012,4.239,"FamilyBased",".","ASD","WES",".","."]
[7621,25363768,14,23079584,23079584,"C","T","DeNovo",".",".","14q11.2","exonic","ACIN1",22985,".","nonsynonymous SNV","ACIN1:NM_001164815:exon5:c.G1805A:p.R602H,ACIN1:NM_001164814:exon6:c.G1925A:p.R642H,ACIN1:NM_014977:exon6:c.G1925A:p.R642H",".",".","rs80007670",{"v":1.65e-05,"d":"1.65E-05"},0,0,0,0,{"v":1.5E-5,"d":"1.50E-05"},0,{"v":6.06e-05,"d":"6.06E-05"},".",".",".",".",".",".",1E-3,"D",0.996,"D",0.674,"P",1E-3,"N",0.976,"N",0.805,"L",2.39,"T",-1.11,"N",0.2,3.433,23,0.998,0.577,"D",-1.095,"T",0.049,"T",0.707,0,3.18,0.871,0.008,0.944,0.958,7.238,"FamilyBased",".","ASD","WES",".","."]
[7658,25363768,14,51254398,51254398,"C","T","DeNovo",".",".","14q22.1","exonic","TMX1",81542,".","nonsynonymous SNV","TMX1:NM_030755:exon8:c.C722T:p.A241V",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.252,"T",0.918,"P",0.284,"B",0.003,"N",0.956,"D",1.59,"L",2.45,"T",-0.61,"N",0.32,4.208,23.9,0.994,0.887,"D",-1.108,"T",0.042,"T",0.732,0,5.3,0.871,0.935,0.996,0.995,14.812,"FamilyBased",".","ASD","WES",".","."]
[7668,25363768,14,60245885,60245885,"C","T","DeNovo",".",".","14q23.1","exonic","PPM1A",5494,".","nonsynonymous SNV","PPM1A:NM_177952:exon1:c.C38T:p.T13I",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.045,"D",".",".",".",".",".",".",1,"N",0,"N",1.52,"T",0.04,"N",0.041,-0.192,1.139,0.981,0.003,"N",-1.027,"T",0.028,"T",0.616,0,-3.91,-1.3,-0.405,0.024,0.01,0.184,"FamilyBased",".","ASD","WES",".","."]
[7711,25363768,14,80836325,80836325,"G","A","DeNovo",".",".","14q31.1","exonic","CEP128",145508,".","nonsynonymous SNV","CEP128:NM_152446:exon11:c.C937T:p.R313C",".","ID=COSM958301;OCCURENCE=1(endometrium)",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1E-3,"D",1,"D",0.998,"D",0,"D",1,"D",2.045,"M",-1.69,"D",-5.13,"D",0.788,6.963,33,0.999,0.807,"D",0.474,"D",0.693,"D",0.693,0,5.26,0.917,1.048,0.882,0.99,17,"FamilyBased",".","ASD","WES",".","."]
[7729,25363768,14,96385658,96385658,"G","A","DeNovo",".",".","14q32.2","exonic","GSKIP",51527,".","nonsynonymous SNV","GSKIP:NM_001271906:exon3:c.G394A:p.A132T,GSKIP:NM_001271904:exon4:c.G394A:p.A132T,GSKIP:NM_001271905:exon4:c.G394A:p.A132T,GSKIP:NM_016472:exon4:c.G394A:p.A132T",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.535,"T",0.423,"B",0.23,"B",0,"D",1,"D",1.59,"L",".",".",-0.65,"N",0.302,3.702,23.3,0.982,0.948,"D",-0.821,"T",0.225,"T",0.707,0,5.65,0.917,1.048,1,1,19.732,"FamilyBased",".","ASD","WES",".","."]
[7759,25363768,14,104953410,104953410,"T","C","DeNovo",".",".","14q32.33","exonic","AHNAK2",113146,".","nonsynonymous SNV","AHNAK2:NM_001350929:exon7:c.A1741G:p.K581E,AHNAK2:NM_138420:exon7:c.A2041G:p.K681E",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.182,"T",0.994,"D",0.88,"P",".",".",1,"D",3.265,"M",4.81,"T",-0.7,"N",0.199,3.83,23.4,0.995,0.441,"N",-1.052,"T",0.021,"T",0.707,0,1.72,0.846,0.672,0.996,0.684,4.692,"FamilyBased",".","ASD","WES",".","."]
[7781,25363768,15,26583387,26583387,"C","T","DeNovo",".",".","15q12","exonic","GABRB3",2562,".","nonsynonymous SNV","GABRB3:NM_001191320:exon3:c.G234A:p.M78I,GABRB3:NM_001191321:exon3:c.G276A:p.M92I,GABRB3:NM_000814:exon5:c.G489A:p.M163I,GABRB3:NM_021912:exon5:c.G489A:p.M163I,GABRB3:NM_001278631:exon6:c.G234A:p.M78I","Epileptic encephalopathy, early infantile, 43, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",0.994,"D",0,"D",1,"D",3.665,"H",-1.14,"T",-3.53,"D",0.878,4.484,24.3,0.998,0.984,"D",0.743,"D",0.733,"D",0.732,0,4.76,0.871,0.935,1,0.985,17.112,"FamilyBased",".","ASD","WES",".","."]
[7810,25363768,15,41509100,41509100,"A","G","DeNovo",".",".","15q15.1","exonic","LTK",4058,".","nonsynonymous SNV","LTK:NM_001135685:exon7:c.T844C:p.W282R,LTK:NM_206961:exon7:c.T844C:p.W282R,LTK:NM_002344:exon8:c.T1027C:p.W343R",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.491,"T",0.994,"D",0.944,"D",0.007,"U",0.999,"N",1.265,"L",-0.66,"T",-2.31,"N",0.835,3.806,23.4,0.987,0.928,"D",-0.615,"T",0.399,"T",0.598,0,4.66,1.062,1.136,0.998,0.998,9.138,"FamilyBased",".","ASD","WES",".","."]
[7830,25363768,15,44573690,44573690,"C","T","DeNovo",".",".","15q21.1","exonic","SPG11",80208,".","nonsynonymous SNV","SPG11:NM_025137:exon32:c.G6062A:p.R2021Q","Amyotrophic lateral sclerosis 5, juvenile, Autosomal recessive;Charcot-Marie-Tooth disease, axonal, type 2X, Autosomal recessive;Spastic paraplegia 11, autosomal recessive, Autosomal recessive",".","rs375420533",{"v":7.42e-05,"d":"7.42E-05"},0,{"v":8.66e-05,"d":"8.66E-05"},0.0009,0,0,0,0,".",".",".",".",".",".",0.155,"T",0.214,"B",0.032,"B",2E-3,"N",1,"D",1.78,"L",-0.69,"T",0.38,"N",0.08,3.033,22.3,0.991,0.312,"N",-0.718,"T",0.284,"T",0.732,0,3.32,0.871,0.065,0.981,0.984,11.033,"FamilyBased",".","ASD","WES",".","."]
[7837,25363768,15,48878483,48878483,"G","T","DeNovo",".",".","15q21.1","exonic","EID1",23741,".","nonsynonymous SNV","EID1:NM_014335:exon1:c.G307T:p.D103Y",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.009,"D",1,"D",0.982,"D",".",".",1,"D",1.1,"L",0.92,"T",-2.17,"N",0.739,6.383,29.5,0.996,0.605,"D",-0.892,"T",0.157,"T",0.442,0,3.28,0.63,1.048,0.994,1,7.828,"FamilyBased",".","ASD","WES",".","."]
[7860,25363768,15,57524632,57524632,"C","A","DeNovo",".",".","15q21.3","exonic","CGNL1",84952,".","nonsynonymous SNV","CGNL1:NM_032866:exon12:c.C2920A:p.Q974K,CGNL1:NM_001252335:exon13:c.C2920A:p.Q974K",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.036,"D",1,"D",0.994,"D",0.055,"N",1,"D",2.05,"M",-1.13,"T",-3.67,"D",0.403,7.12,34,0.997,0.986,"D",0.225,"D",0.62,"D",0.732,0,5.48,0.871,0.919,0.999,0.999,19.353,"FamilyBased",".","ASD","WES",".","."]
[7905,25363768,15,72774997,72774997,"T","C","DeNovo",".",".","15q24.1","exonic","ADPGK",83440,".","nonsynonymous SNV","ADPGK:NM_031284:exon2:c.A334G:p.R112G",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.214,"T",0,"B",2E-3,"B",0,"N",1,"N",1.59,"L",0.92,"T",-1.98,"N",0.475,1.073,11.07,0.97,0.186,"N",-1.025,"T",0.078,"T",0.707,0,0.694,0.029,-0.315,0.587,0.642,8.095,"FamilyBased",".","ASD","WES",".","."]
[7935,25363768,15,83264716,83264716,"T","C","DeNovo",".",".","15q25.2","exonic","BNC1",646,".","nonsynonymous SNV","BNC1:NM_001301206:exon4:c.A514G:p.I172V,BNC1:NM_001717:exon4:c.A535G:p.I179V",".",".","rs777375591",{"v":8.24e-06,"d":"8.24E-06"},0,0,0,0,{"v":1.5E-5,"d":"1.50E-05"},0,0,".",".",".",".",".",".",0.016,"D",0.994,"D",0.987,"D",0,"D",1,"D",1.155,"L",3.87,"T",-0.82,"N",0.378,4.503,24.3,0.996,0.985,"D",-1.137,"T",0.03,"T",0.707,0,5.82,0.991,1.061,0.996,1,16.172,"FamilyBased",".","ASD","WES",".","."]
[7955,25363768,15,94298413,94298413,"C","G","DeNovo",".",".","15q26.2","exonic","MCTP2",55784,".","nonsynonymous SNV","MCTP2:NM_001159643:exon1:c.C148G:p.L50V,MCTP2:NM_018349:exon1:c.C148G:p.L50V",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.792,"T",0.027,"B",0.015,"B",0.035,"N",1,"D",0.805,"L",0.04,"T",-0.06,"N",0.223,0.266,5.355,0.967,0.332,"N",-1.025,"T",0.133,"T",0.638,0,3.15,0.871,0.852,0.492,0.999,4.452,"FamilyBased",".","ASD","WES",".","."]
[7976,25363768,16,681512,681512,"A","C","DeNovo",".",".","16p13.3","exonic","STUB1",10273,".","nonsynonymous SNV","STUB1:NM_001293197:exon3:c.A217C:p.K73Q,STUB1:NM_005861:exon3:c.A433C:p.K145Q","Spinocerebellar ataxia, autosomal recessive 16, Autosomal recessive","ID=COSM1166135;OCCURENCE=1(large_intestine)","rs146251364",0.0007,0.0005,0.0006,0.0006,1.8E-3,0.0007,0.0012,0.0004,0.000599042,"Uncertain significance","not_specified","RCV000194931.1","MedGen","CN169374",0.192,"T",0.797,"P",0.112,"B",0,"D",1,"D",1.845,"L",2.47,"T",-2.3,"N",0.428,1.141,11.43,0.939,0.929,"D",-1.075,"T",0.035,"T",0.628,0,4.59,1.062,1.083,1,1,12.921,"FamilyBased",".","ASD","WES",".","."]
[8003,25363768,16,2081694,2081694,"C","T","DeNovo",".",".","16p13.3","exonic","TSC2",7249,".","nonsynonymous SNV","TSC2:NM_001318831:exon27:c.C2978T:p.A993V,TSC2:NM_001318827:exon29:c.C3470T:p.A1157V,TSC2:NM_001318829:exon29:c.C3434T:p.A1145V,TSC2:NM_001077183:exon30:c.C3578T:p.A1193V,TSC2:NM_001318832:exon30:c.C3611T:p.A1204V,TSC2:NM_000548:exon31:c.C3710T:p.A1237V,TSC2:NM_001114382:exon31:c.C3710T:p.A1237V","Lymphangioleiomyomatosis, somatic;Tuberous sclerosis-2, Autosomal dominant",".","rs753907159",{"v":8.35e-06,"d":"8.35E-06"},0,0,0,0,0,0,{"v":6.06e-05,"d":"6.06E-05"},".",".",".",".",".",".",0.015,"D",1,"D",0.998,"D",0,"D",1,"D",1.935,"M",-2.87,"D",-2.15,"N",0.778,7.227,34,0.999,0.945,"D",0.78,"D",0.843,"D",0.707,0,4.7,0.871,0.852,0.761,0.168,17.663,"FamilyBased",".","ASD","WES",".","."]
[8018,25363768,16,3594491,3594491,"A","G","DeNovo",".",".","16p13.3","exonic","SLX4",84464,".","nonsynonymous SNV","SLX4:NM_032444:exon10:c.T2122C:p.F708L","Fanconi anemia, complementation group P, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.015,"D",1,"D",0.999,"D",0,"D",0.995,"D",1.385,"L",-0.09,"T",-5,"D",0.786,6.098,28.2,0.999,0.976,"D",-0.36,"T",0.334,"T",0.706,0,4.35,1.062,1.088,0.998,0.994,12.873,"FamilyBased",".","ASD","WES",".","."]
[8030,25363768,16,5005932,5005932,"G","A","DeNovo",".",".","16p13.3","exonic","SEC14L5",9717,".","nonsynonymous SNV","SEC14L5:NM_014692:exon12:c.G1321A:p.E441K",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",2E-3,"D",0.118,"B",0.247,"B",0,"D",1,"D",1.93,"M",0.1,"T",-3.73,"D",0.562,5.05,25.2,0.998,0.989,"D",-0.554,"T",0.246,"T",0.615,0,4.06,0.917,1.048,0.995,0.972,16.431,"FamilyBased",".","ASD","WES",".","."]
[8055,25363768,16,21976235,21976235,"A","T","DeNovo",".",".","16p12.2","exonic","UQCRC2",7385,".","nonsynonymous SNV","UQCRC2:NM_003366:exon12:c.A1116T:p.Q372H","Mitochondrial complex III deficiency, nuclear type 5, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.033,"D",0.951,"P",0.714,"P",0,"N",1,"N",1.355,"L",3.13,"T",-1.6,"N",0.164,0.602,8.168,0.98,0.105,"N",-1.125,"T",0.021,"T",0.707,0,-7.45,-0.581,-0.156,0.899,0.197,4.529,"FamilyBased",".","ASD","WES",".","."]
[8107,25363768,16,49636125,49636125,"C","T","DeNovo",".",".","16q12.1","exonic","ZNF423",23090,".","nonsynonymous SNV","ZNF423:NM_001330533:exon2:c.G2676A:p.M892I,ZNF423:NM_001271620:exon4:c.G2847A:p.M949I,ZNF423:NM_015069:exon4:c.G3027A:p.M1009I","Joubert syndrome 19, Autosomal recessive, Autosomal dominant;Nephronophthisis 14, Autosomal recessive, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.068,"T",0.983,"D",0.884,"P",0,"D",1,"D",0.55,"N",3.08,"T",-2.01,"N",0.814,3.007,22.3,0.995,0.975,"D",-1.03,"T",0.035,"T",0.707,0,5,0.871,0.935,1,1,18.326,"FamilyBased",".","ASD","WES",".","."]
[8128,25363768,16,57967237,57967237,"C","T","DeNovo",".",".","16q21","exonic","CNGB1",1258,".","nonsynonymous SNV","CNGB1:NM_001135639:exon2:c.G50A:p.R17Q,CNGB1:NM_001286130:exon2:c.G50A:p.R17Q,CNGB1:NM_001297:exon2:c.G50A:p.R17Q","Retinitis pigmentosa 45, Autosomal recessive",".","rs768575862",{"v":3.32e-05,"d":"3.32E-05"},0.0003,0,0,0,{"v":1.5E-5,"d":"1.50E-05"},0,0,".",".",".",".",".",".",1,"T",0.01,"B",2E-3,"B",0.701,"N",1,"N",-0.205,"N",1.3,"T",1.04,"N",0.151,0.418,6.771,0.318,0.053,"N",-0.488,"T",0.468,"T",0.497,0,1.44,0.021,0.119,0.958,0.95,1.81,"FamilyBased",".","ASD","WES",".","."]
[8136,25363768,16,58680056,58680056,"C","T","DeNovo",".",".","16q21","exonic","SLC38A7",55238,".","nonsynonymous SNV","SLC38A7:NM_001308384:exon2:c.G71A:p.R24Q,SLC38A7:NM_018231:exon3:c.G71A:p.R24Q",".",".","rs763671950",{"v":2.73E-5,"d":"2.73E-05"},0,0,0,0,{"v":3.19e-05,"d":"3.19E-05"},0,{"v":8.97e-05,"d":"8.97E-05"},".",".",".",".",".",".",0.222,"T",0.972,"D",0.429,"B",2E-3,"N",1,"D",0.895,"L",2.88,"T",0.11,"N",0.491,3.971,23.6,0.999,0.984,"D",-1.036,"T",0.025,"T",0.732,0,4.86,0.871,0.931,0.863,0.991,13.718,"FamilyBased",".","ASD","WES",".","."]
[8152,25363768,16,67951940,67951940,"A","G","DeNovo",".",".","16q22.1","exonic","SLC12A4",6560,".","nonsynonymous SNV","SLC12A4:NM_001145962:exon7:c.T1021C:p.W341R,SLC12A4:NM_001145961:exon8:c.T1015C:p.W339R,SLC12A4:NM_001145963:exon8:c.T997C:p.W333R,SLC12A4:NM_001145964:exon8:c.T922C:p.W308R,SLC12A4:NM_005072:exon8:c.T1015C:p.W339R",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.115,"T",0.921,"P",0.776,"P",0,"D",1,"D",2.43,"M",-0.33,"T",-8.45,"D",0.729,4.317,24,0.984,0.986,"D",-0.319,"T",0.389,"T",0.672,0,5,1.062,1.14,0.833,0.925,10.855,"FamilyBased",".","ASD","WES",".","."]
[8188,25363768,16,81215029,81215029,"T","C","DeNovo",".",".","16q23.2","exonic","PKD1L2",114780,".","nonsynonymous SNV","PKD1L2:NM_001076780:exon3:c.A629G:p.N210S",".",".","rs372341728",{"v":7.64E-5,"d":"7.64E-05"},0,0,0,0,{"v":5.34e-05,"d":"5.34E-05"},0,0.0003,".",".",".",".",".",".",".",".",0.003,"B",1E-3,"B",0.045,"N",1,"N",".",".",2.3,"T",0.14,"N",0.029,-2.701,1E-3,0.414,0.017,"N",-0.943,"T",0.015,"T",0.526,0,0.395,-0.068,-0.153,0.191,0.009,7.901,"FamilyBased",".","ASD","WES",".","."]
[8203,25363768,16,85656455,85656455,"G","A","DeNovo",".",".","16q24.1","exonic","GSE1",23199,".","nonsynonymous SNV","GSE1:NM_001134473:exon6:c.G790A:p.E264K,GSE1:NM_001278184:exon6:c.G883A:p.E295K,GSE1:NM_014615:exon7:c.G1102A:p.E368K",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.05,"D",0.982,"D",0.831,"P",0,"D",1,"D",2.325,"M",0.7,"T",-2.19,"N",0.671,3.212,22.7,0.997,0.968,"D",-0.652,"T",0.241,"T",0.672,0,4.61,0.917,0.974,0.922,0.899,13.274,"FamilyBased",".","ASD","WES",".","."]
[8227,25363768,17,653408,653408,"G","A","DeNovo",".",".","17p13.3","exonic","VPS53",55275,".","nonsynonymous SNV","VPS53:NM_018289:exon6:c.C404T:p.A135V,VPS53:NM_001128159:exon7:c.C491T:p.A164V","Pontocerebellar hypoplasia, type 2E, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.392,"T",0.045,"B",0.039,"B",0,"D",1,"D",0.665,"N",1.51,"T",-0.96,"N",0.752,3.453,23,0.996,0.994,"D",-1.1,"T",0.06,"T",0.732,0,5.76,0.917,1.048,1,1,18.887,"FamilyBased",".","ASD","WES",".","."]
[8244,25363768,17,3198002,3198002,"C","A","DeNovo",".",".","17p13.3","exonic","OR1A2",26189,".","nonsynonymous SNV","OR1A2:NM_012352:exon1:c.C484A:p.L162I",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",2E-3,"D",0.673,"P",0.467,"P",0,"D",1,"N",2.15,"M",8.65,"T",-1.9,"N",0.13,5.225,25.6,0.991,0.093,"N",-1.019,"T",1E-3,"T",0.487,0,4.09,0.871,0.872,0.68,0.413,5.285,"FamilyBased",".","ASD","WES",".","."]
[8295,25363768,17,8370060,8370060,"G","A","DeNovo",".",".","17p13.1","exonic","KRBA2",124751,".","nonsynonymous SNV","KRBA2:NM_001304947:exon2:c.C307T:p.R103W,KRBA2:NM_213597:exon2:c.C553T:p.R185W",".","ID=COSM180032;OCCURENCE=1(large_intestine)","rs748418470",{"v":2.47e-05,"d":"2.47E-05"},0,0,0,0,0,0,0.0002,".",".",".",".",".",".",0.009,"D",0.885,"P",0.194,"B",".",".",1,"N",1.245,"L",1.74,"T",-2.76,"D",0.711,2.732,21,0.974,0.012,"N",-1.049,"T",0.037,"T",0.563,0,-1.86,0.373,-0.499,0.906,0.418,6.158,"FamilyBased",".","ASD","WES",".","."]
[8306,25363768,17,10711013,10711013,"A","G","DeNovo",".",".","17p13.1","exonic","ADPRM",56985,".","nonsynonymous SNV","ADPRM:NM_020233:exon4:c.A898G:p.I300V",".",".","rs373978548",{"v":1.65e-05,"d":"1.65E-05"},0,0,0,0,0,0.0011,{"v":6.06e-05,"d":"6.06E-05"},".",".",".",".",".",".",0.115,"T",0.574,"P",0.065,"B",0,"D",1,"D",0.995,"L",-3.34,"D",-0.77,"N",0.455,2.815,21.4,0.997,0.99,"D",0.12,"D",0.587,"D",0.707,0,5.82,1.062,1.14,1,1,15.846,"FamilyBased",".","ASD","WES",".","."]
[8331,25363768,17,19739006,19739006,"G","C","DeNovo",".",".","17p11.2","exonic","ALDH3A1",218,".","nonsynonymous SNV","ALDH3A1:NM_001135168:exon8:c.C1206G:p.F402L,ALDH3A1:NM_001330150:exon8:c.C987G:p.F329L,ALDH3A1:NM_000691:exon9:c.C1206G:p.F402L,ALDH3A1:NM_001135167:exon9:c.C1206G:p.F402L",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.066,"T",1,"D",0.995,"D",0,"D",1,"D",3.39,"M",-1.71,"D",-5.61,"D",0.587,5.06,25.2,0.983,0.144,"N",0.625,"D",0.791,"D",0.554,0,-4.67,-0.881,-0.852,0.785,0.646,13.98,"FamilyBased",".","ASD","WES",".","."]
[8350,25363768,17,31350299,31350299,"C","A","DeNovo",".",".","17q11.2","exonic","NF1",4763,".","nonsynonymous SNV","NF1:NM_000267:exon49:c.C7375A:p.H2459N,NF1:NM_001042492:exon50:c.C7438A:p.H2480N","Leukemia, juvenile myelomonocytic, Autosomal dominant, Somatic mutation;Neurofibromatosis, familial spinal, Autosomal dominant;Neurofibromatosis, type 1, Autosomal dominant;Neurofibromatosis-Noonan syndrome, Autosomal dominant;Watson syndrome, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.693,"T",0.02,"B",0.025,"B",0.012,"N",0.69,"N",0.345,"N",3.4,"T",-0.43,"N",0.235,2.44,19.08,0.929,0.857,"D",-1.045,"T",0.06,"T",0.706,0,4.49,0.871,0.935,0.979,0.997,14.587,"FamilyBased",".","ASD","WES",".","."]
[8370,25363768,17,37586449,37586449,"T","G","DeNovo",".",".","17q12","exonic","SYNRG",11276,".","nonsynonymous SNV","SYNRG:NM_001163544:exon4:c.A341C:p.D114A,SYNRG:NM_001163545:exon4:c.A338C:p.D113A,SYNRG:NM_001163546:exon4:c.A341C:p.D114A,SYNRG:NM_001163547:exon4:c.A341C:p.D114A,SYNRG:NM_007247:exon4:c.A341C:p.D114A,SYNRG:NM_080550:exon4:c.A341C:p.D114A,SYNRG:NM_198882:exon4:c.A341C:p.D114A",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",0.997,"D",0,"D",1,"D",1.905,"M",".",".",".",".",0.855,6.053,28,0.996,0.998,"D",-0.939,"T",0.149,"T",0.707,0,4.74,0.991,1.011,1,1,14.516,"FamilyBased",".","ASD","WES",".","."]
[8391,25363768,17,41160618,41160618,"T","C","DeNovo",".",".","17q21.2","exonic","KRTAP4-4",84616,".","nonsynonymous SNV","KRTAP4-4:NM_032524:exon1:c.A74G:p.Y25C",".",".","rs385055",0.031,0.3947,0.0163,0,0,0.0012,0.0111,0.0007,0.127995,".",".",".",".",".",1,"T",0,"B",0,"B",0.011,"N",0.994,"P",-3.295,"N",6.5,"T",9.98,"N",0.071,-0.389,0.41,0.093,0,"N",-1.03,"T",0,"T",0.497,0,4.62,-0.034,-0.22,0.968,2E-3,10.773,"FamilyBased",".","ASD","WES",".","."]
[8418,25363768,17,44374361,44374361,"A","G","DeNovo",".",".","17q21.31","exonic","ITGA2B",3674,".","nonsynonymous SNV","ITGA2B:NM_000419:exon29:c.T3053C:p.M1018T","Bleeding disorder, platelet-type, 16, autosomal dominant, Autosomal dominant;Glanzmann thrombasthenia, Autosomal recessive;Thrombocytopenia, neonatal alloimmune, BAK antigen related (3)",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1E-3,"D",0.932,"P",0.559,"P",1E-3,"D",0.999,"D",2.57,"M",0.52,"T",-3.69,"D",0.85,5.405,26,0.99,0.877,"D",-0.511,"T",0.238,"T",0.726,0,5,1.062,1.172,0.975,1,12.69,"FamilyBased",".","ASD","WES",".","."]
[8435,25363768,17,50356716,50356716,"G","A","DeNovo",".",".","17q21.33","exonic","XYLT2",64132,".","nonsynonymous SNV","XYLT2:NM_022167:exon8:c.G1688A:p.R563H","Spondyloocular syndrome, Autosomal recessive",".","rs559868224",".",".",".",".",".",".",".",".",1.99681E-4,".",".",".",".",".",0.033,"D",0.999,"D",0.945,"D",0,"D",1,"D",2.465,"M",0.48,"T",-4.29,"D",0.892,6.189,28.6,0.999,0.993,"D",-0.293,"T",0.347,"T",0.745,0,4.84,0.917,0.953,0.994,0.899,16.317,"FamilyBased",".","ASD","WES",".","."]
[8476,25363768,17,63951690,63951690,"C","T","DeNovo",".",".","17q23.3","exonic","SCN4A",6329,".","nonsynonymous SNV","SCN4A:NM_000334:exon14:c.G2587A:p.G863R","Hyperkalemic periodic paralysis, type 2, Autosomal dominant;Hypokalemic periodic paralysis, type 2, Autosomal dominant;Myasthenic syndrome, congenital, 16, Autosomal recessive;Myotonia congenita, atypical, acetazolamide-responsive, Autosomal dominant;Paramyotonia congenita, Autosomal dominant",".","rs752706137",{"v":1.58e-05,"d":"1.58E-05"},0,0,0,0,0,0,{"v":8.98e-05,"d":"8.98E-05"},".",".",".",".",".",".",0.362,"T",0.142,"B",0.059,"B",0.067,"U",1,"N",0.805,"L",-3.84,"D",-1.04,"N",0.11,1.556,13.61,0.358,0.069,"N",-0.113,"T",0.718,"D",0.615,0,3.14,-0.461,-0.083,2E-3,0,8.013,"FamilyBased",".","ASD","WES",".","."]
[8508,25363768,17,76474475,76474475,"G","C","DeNovo",".",".","17q25.1","exonic","RHBDF2",79651,".","nonsynonymous SNV","RHBDF2:NM_001005498:exon11:c.C1362G:p.I454M,RHBDF2:NM_024599:exon12:c.C1449G:p.I483M","Tylosis with esophageal cancer, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",2E-3,"D",0.982,"D",0.764,"P",1E-3,"D",0.992,"D",1.815,"L",0.33,"T",-2.41,"N",0.494,4.285,24,0.994,0.052,"N",-0.809,"T",0.195,"T",0.707,0,-2.01,-0.327,-0.572,0.903,0.98,3.688,"FamilyBased",".","ASD","WES",".","."]
[8527,25363768,17,82056940,82056940,"G","A","DeNovo",".",".","17q25.3","exonic","GPS1",2873,".","nonsynonymous SNV","GPS1:NM_001321092:exon12:c.G1355A:p.R452Q,GPS1:NM_001330539:exon12:c.G1352A:p.R451Q,GPS1:NM_001330541:exon12:c.G1364A:p.R455Q,GPS1:NM_004127:exon12:c.G1367A:p.R456Q,GPS1:NM_212492:exon12:c.G1475A:p.R492Q,GPS1:NM_001321089:exon13:c.G1571A:p.R524Q,GPS1:NM_001321090:exon13:c.G1559A:p.R520Q,GPS1:NM_001321091:exon13:c.G1556A:p.R519Q,GPS1:NM_001321093:exon13:c.G1307A:p.R436Q",".",".","rs537799834",".",".",".",".",".",".",".",".",".",".",".",".",".",".",2E-3,"D",1,"D",0.999,"D",0,"D",1,"D",2.95,"M",".",".",-3.41,"D",0.913,7.3,34,0.999,0.992,"D",0.293,"D",0.543,"D",0.672,0,4.12,0.913,0.951,0.995,0.162,16.532,"FamilyBased",".","ASD","WES",".","."]
[8543,25363768,18,2589302,2589302,"A","G","DeNovo",".",".","18p11.32","exonic","NDC80",10403,".","nonsynonymous SNV","NDC80:NM_006101:exon9:c.A862G:p.K288E",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.186,"T",0.013,"B",0.01,"B",0,"D",0.998,"N",1.1,"L",0.95,"T",0.21,"N",0.294,1.89,15.53,0.987,0.607,"D",-1.022,"T",0.074,"T",0.722,0,5.58,1.062,1.199,1,1,11.496,"FamilyBased",".","ASD","WES",".","."]
[8577,25363768,18,32680453,32680453,"G","A","DeNovo",".",".","18q12.1","exonic","KLHL14",57565,".","nonsynonymous SNV","KLHL14:NM_020805:exon6:c.C1385T:p.A462V",".","ID=COSM987789;OCCURENCE=1(endometrium)",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.201,"T",0.999,"D",0.989,"D",0,"D",1,"D",0.855,"L",-1.17,"T",-0.12,"N",0.766,5.396,26,0.999,0.993,"D",-0.216,"T",0.508,"D",0.638,0,5.97,0.917,1.048,0.999,0.962,20.439,"FamilyBased",".","ASD","WES",".","."]
[8600,25363768,18,54159875,54159875,"G","A","DeNovo",".",".","18q21.2","exonic","MBD2",8932,".","nonsynonymous SNV","MBD2:NM_003927:exon6:c.C1138T:p.R380C",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",1,"D",0,"D",1,"D",3.03,"M",-6.2,"D",-7.03,"D",0.938,6.858,33,0.999,0.991,"D",1.033,"D",0.988,"D",0.722,0,5.77,0.917,1.048,0.992,0.889,18.77,"FamilyBased",".","ASD","WES",".","."]
[8636,25363768,19,1223104,1223104,"C","T","DeNovo",".",".","19p13.3","exonic","STK11",6794,".","nonsynonymous SNV","STK11:NM_000455:exon8:c.C1040T:p.A347V","Melanoma, malignant, somatic (3);Pancreatic cancer, Autosomal dominant, Somatic mutation, Multifactorial;Peutz-Jeghers syndrome, Autosomal dominant;Testicular tumor, somatic;Melanoma, malignant, somatic (3);Pancreatic cancer, Autosomal dominant, Somatic mutation, Multifactorial;Peutz-Jeghers syndrome, Autosomal dominant;Testicular tumor, somatic",".",".",{"v":2.1e-05,"d":"2.10E-05"},0,1E-4,0,0,{"v":1.85e-05,"d":"1.85E-05"},0,0,".",".",".",".",".",".",0.526,"T",0.049,"B",0.014,"B",0.042,"N",0.957,"N",0,"N",-0.36,"T",-1.25,"N",0.062,0.828,9.633,0.816,0.175,"N",-1.05,"T",0.099,"T",0.672,0,-2.02,0.067,0.031,0.021,2E-3,6.986,"FamilyBased",".","ASD","WES",".","."]
[8669,25363768,19,4013124,4013124,"C","A","DeNovo",".",".","19p13.3","exonic","PIAS4",51588,".","nonsynonymous SNV","PIAS4:NM_015897:exon2:c.C229A:p.P77T",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.187,"T",0.003,"B",0.007,"B",0.008,"N",0.959,"N",0,"N",1.42,"T",-1.13,"N",0.329,0.912,10.15,0.961,0.979,"D",-1.048,"T",0.038,"T",0.707,0,4.08,-0.039,-0.031,0.532,0.017,14.399,"FamilyBased",".","ASD","WES",".","."]
[8702,25363768,19,6926369,6926369,"G","A","DeNovo",".",".","19p13.2","exonic","ADGRE1",2015,".","nonsynonymous SNV","ADGRE1:NM_001256254:exon13:c.G1567A:p.G523S,ADGRE1:NM_001256255:exon13:c.G1459A:p.G487S,ADGRE1:NM_001256252:exon15:c.G1834A:p.G612S,ADGRE1:NM_001256253:exon15:c.G1795A:p.G599S,ADGRE1:NM_001974:exon16:c.G1990A:p.G664S",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.491,"T",0.811,"P",0.538,"P",".",".",1,"N",1.12,"L",1.08,"T",-1.68,"N",0.198,2.968,22.1,0.994,0.049,"N",-1.042,"T",0.084,"T",0.526,0,1.75,0.697,0.729,0.166,0.213,2.636,"FamilyBased",".","ASD","WES",".","."]
[8725,25363768,19,8964280,8964280,"G","T","DeNovo",".",".","19p13.2","exonic","MUC16",94025,".","nonsynonymous SNV","MUC16:NM_024690:exon3:c.C12490A:p.P4164T",".",".","rs759693523",{"v":8.28e-06,"d":"8.28E-06"},0,0,0,0,{"v":1.5E-5,"d":"1.50E-05"},0,0,".",".",".",".",".",".",0,"D",0.17,"B",0.012,"B",".",".",1,"N",-0.405,"N",2.04,"T",-1.93,"N",0.129,-0.393,0.401,0.472,0.008,"N",-1.011,"T",0.017,"T",0.554,0,-2.1,0.373,-1.154,0.038,0,1.961,"FamilyBased",".","ASD","WES",".","."]
[8742,25363768,19,10143955,10143955,"C","T","DeNovo",".",".","19p13.2","exonic","DNMT1",1786,".","nonsynonymous SNV","DNMT1:NM_001318730:exon28:c.G2879A:p.R960Q,DNMT1:NM_001379:exon28:c.G2879A:p.R960Q,DNMT1:NM_001130823:exon29:c.G2927A:p.R976Q,DNMT1:NM_001318731:exon29:c.G2564A:p.R855Q","Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, Autosomal dominant;Neuropathy, hereditary sensory, type IE, Autosomal dominant",".","rs750276897",{"v":8.24e-06,"d":"8.24E-06"},0,0,0,0,{"v":1.5E-5,"d":"1.50E-05"},0,0,".",".",".",".",".",".",0.075,"T",0.942,"P",0.42,"B",0,"D",0.963,"N",1.845,"L",1.95,"T",-1.25,"N",0.235,4.378,24.1,0.999,0.424,"N",-1.04,"T",0.041,"T",0.707,0,-2.77,-0.379,0.075,0.107,0.981,6.05,"FamilyBased",".","ASD","WES",".","."]
[8763,25363768,19,12646711,12646711,"G","A","DeNovo",".",".","19p13.13","exonic","MAN2B1",4125,".","nonsynonymous SNV","MAN2B1:NM_000528:exon24:c.C2945T:p.P982L,MAN2B1:NM_001173498:exon24:c.C2942T:p.P981L","Mannosidosis, alpha-, types I and II, Autosomal recessive",".","rs376856949",{"v":1.65e-05,"d":"1.65E-05"},0,0,0,0,{"v":3e-05,"d":"3.00E-05"},0,0,".",".",".",".",".",".",0.587,"T",0.15,"B",0.017,"B",0.486,"N",1,"N",1.795,"L",-1.3,"T",-2.09,"N",0.104,1.217,11.84,0.673,0.111,"N",-0.846,"T",0.377,"T",0.672,0,2.52,0.917,-0.277,1E-3,0,5.422,"FamilyBased",".","ASD","WES",".","."]
[8783,25363768,19,15652609,15652609,"C","T","DeNovo",".",".","19p13.12","exonic","CYP4F3",4051,".","nonsynonymous SNV","CYP4F3:NM_000896:exon8:c.C959T:p.A320V,CYP4F3:NM_001199208:exon8:c.C959T:p.A320V,CYP4F3:NM_001199209:exon8:c.C959T:p.A320V",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",2E-3,"D",1,"D",0.994,"D",0,"U",1,"D",3.525,"H",-0.59,"T",-3.56,"D",0.768,6.642,32,0.999,0.884,"D",0.428,"D",0.608,"D",0.638,0,3.49,0.871,0.807,0.955,0.996,12.526,"FamilyBased",".","ASD","WES",".","."]
[8799,25363768,19,18163049,18163049,"G","A","DeNovo",".",".","19p13.11","exonic","PIK3R2",5296,".","nonsynonymous SNV","PIK3R2:NM_005027:exon10:c.G1192A:p.V398I","Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, Autosomal dominant",".","rs771756537",{"v":4.13e-05,"d":"4.13E-05"},0,0,0,0,{"v":6.01e-05,"d":"6.01E-05"},0,{"v":6.07e-05,"d":"6.07E-05"},".",".",".",".",".",".",0.018,"D",0.995,"D",0.95,"D",0,"D",1,"D",1.82,"L",0.07,"T",-0.97,"N",0.353,5.301,25.8,0.998,0.986,"D",-0.345,"T",0.324,"T",0.707,0,3.69,0.917,0.877,0.987,0.073,15.323,"FamilyBased",".","ASD","WES",".","."]
[8828,25363768,19,35739766,35739766,"G","A","DeNovo",".",".","19q13.12","exonic","IGFLR1",79713,".","nonsynonymous SNV","IGFLR1:NM_001346003:exon3:c.C161T:p.A54V,IGFLR1:NM_001346006:exon4:c.C346T:p.P116S,IGFLR1:NM_024660:exon4:c.C665T:p.A222V",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.054,"T",0.386,"B",0.124,"B",0.549,"N",1,"D",0.345,"N",0.81,"T",-0.77,"N",0.138,1.526,13.45,0.997,0.567,"D",-1.023,"T",0.086,"T",0.726,0,4.87,0.917,1.048,0.003,0.268,13.862,"FamilyBased",".","ASD","WES",".","."]
[8834,25363768,19,36638960,36638960,"A","G","DeNovo",".",".","19q13.12","exonic","ZNF461",92283,".","nonsynonymous SNV","ZNF461:NM_001297623:exon5:c.T1316C:p.I439T,ZNF461:NM_001322826:exon5:c.T1223C:p.I408T,ZNF461:NM_001322827:exon5:c.T1223C:p.I408T,ZNF461:NM_001322821:exon6:c.T1367C:p.I456T,ZNF461:NM_001322823:exon6:c.T1292C:p.I431T,ZNF461:NM_001322825:exon6:c.T1292C:p.I431T,ZNF461:NM_001322828:exon6:c.T1121C:p.I374T,ZNF461:NM_153257:exon6:c.T1385C:p.I462T",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.079,"T",0.478,"P",0.314,"B",".",".",0.999,"N",0.48,"N",2.37,"T",-4.23,"D",0.087,3.629,23.2,0.995,0,"N",-1.004,"T",0.028,"T",0.638,0,1.24,1.003,0.788,0.907,0.968,6.164,"FamilyBased",".","ASD","WES",".","."]
[8869,25363768,19,40047375,40047375,"C","T","DeNovo",".",".","19q13.2","exonic","ZNF780B",163131,".","nonsynonymous SNV","ZNF780B:NM_001005851:exon4:c.G232A:p.D78N",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.187,"T",0.993,"D",0.956,"D",".",".",1,"N",1.33,"L",3.36,"T",-2.99,"D",0.039,3.186,22.7,0.992,0.725,"D",-1.073,"T",0.035,"T",0.563,0,2.73,0.871,0.722,0.271,0.173,9.003,"FamilyBased",".","ASD","WES",".","."]
[8900,25363768,19,43184904,43184904,"G","A","DeNovo",".",".","19q13.31","exonic","PSG5",5673,".","nonsynonymous SNV","PSG5:NM_001130014:exon2:c.C308T:p.S103F,PSG5:NM_002781:exon2:c.C308T:p.S103F",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.219,"T",0.985,"D",0.934,"D",".",".",1,"N",2.57,"M",4.63,"T",-3.55,"D",0.212,2.704,20.8,0.994,0.016,"N",-1.013,"T",0.016,"T",0.554,0,-1.37,-0.287,-0.379,0.01,0.004,3.367,"FamilyBased",".","ASD","WES",".","."]
[8918,25363768,19,45770600,45770600,"A","G","DeNovo",".",".","19q13.32","exonic","DMPK",1760,".","nonsynonymous SNV","DMPK:NM_001288765:exon13:c.T1507C:p.C503R,DMPK:NM_001081563:exon14:c.T1808C:p.L603P,DMPK:NM_001081560:exon15:c.T1763C:p.L588P,DMPK:NM_001081562:exon15:c.T1759C:p.C587R,DMPK:NM_004409:exon15:c.T1778C:p.L593P,DMPK:NM_001288764:exon16:c.T1856C:p.L619P","Myotonic dystrophy 1, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1E-3,"D",0.95,"P",0.653,"P",0.166,"N",1,"D",0.695,"N",-0.79,"T",-1.21,"N",0.711,5.802,27.1,0.998,0.318,"N",-0.602,"T",0.282,"T",0.442,0,3.44,0.073,-0.334,0.994,0.968,7.21,"FamilyBased",".","ASD","WES",".","."]
[8947,25363768,19,49706070,49706070,"G","A","DeNovo",".",".","19q13.33","exonic","CPT1C",126129,".","nonsynonymous SNV","CPT1C:NM_152359:exon10:c.G1126A:p.E376K,CPT1C:NM_001136052:exon11:c.G1093A:p.E365K,CPT1C:NM_001199752:exon11:c.G1126A:p.E376K,CPT1C:NM_001199753:exon11:c.G1126A:p.E376K",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1E-3,"D",1,"D",0.997,"D",0,"D",0.976,"D",1.415,"L",-2.6,"D",-3.54,"D",0.398,6.914,33,0.999,0.986,"D",0.662,"D",0.742,"D",0.707,0,4.16,0.917,0.953,0.923,0.697,15.364,"FamilyBased",".","ASD","WES",".","."]
[8964,25363768,19,52881554,52881554,"C","T","DeNovo",".",".","19q13.41","exonic","ZNF320",162967,".","nonsynonymous SNV","ZNF320:NM_207333:exon4:c.G572A:p.C191Y",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.08,"T",1,"D",1,"D",".",".",0.701,"D",3.415,"M",-1.94,"D",-8.35,"D",0.386,4.548,24.3,0.944,0.931,"D",0.763,"D",0.781,"D",0.707,0,1.75,0.666,-0.231,0.479,0.007,10.504,"FamilyBased",".","ASD","WES",".","."]
[8981,25363768,19,54885414,54885414,"G","A","DeNovo",".",".","19q13.42","exonic","FCAR",2204,".","nonsynonymous SNV","FCAR:NM_133272:exon2:c.G214A:p.E72K,FCAR:NM_133273:exon2:c.G214A:p.E72K,FCAR:NM_133274:exon2:c.G214A:p.E72K,FCAR:NM_133278:exon2:c.G214A:p.E72K,FCAR:NM_002000:exon3:c.G250A:p.E84K,FCAR:NM_133269:exon3:c.G250A:p.E84K,FCAR:NM_133271:exon3:c.G250A:p.E84K",".","ID=COSM3835760,COSM3835759;OCCURENCE=1(breast)",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.566,"T",0.995,"D",0.898,"P",0.003,"N",1,"N",0.91,"L",2.74,"T",-1.11,"N",0.31,1.297,12.25,0.972,0.005,"N",-1.061,"T",0.038,"T",0.554,0,-1.83,0.589,-0.477,0.04,0,6.494,"FamilyBased",".","ASD","WES",".","."]
[9003,25363768,20,279315,279315,"C","A","DeNovo",".",".","20p13","exonic","C20orf96",140680,".","nonsynonymous SNV","C20orf96:NM_080571:exon5:c.G319T:p.G107W,C20orf96:NM_153269:exon5:c.G322T:p.G108W",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.047,"D",0.994,"D",0.866,"P",0.012,"N",1,"N",0.345,"N",0.95,"T",-0.7,"N",0.264,2.401,18.83,0.733,0.054,"N",-1.012,"T",0.094,"T",0.726,0,-1.05,-1.803,-1.2,1E-3,0,7.779,"FamilyBased",".","ASD","WES",".","."]
[9019,25363768,20,5560067,5560067,"A","C","DeNovo",".",".","20p12.3","exonic","GPCPD1",56261,".","nonsynonymous SNV","GPCPD1:NM_019593:exon17:c.T1405G:p.W469G",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1E-3,"D",0.999,"D",0.984,"D",0,"D",1,"D",2.395,"M",1.61,"T",-6.05,"D",0.901,5.724,26.9,0.981,0.993,"D",-0.838,"T",0.192,"T",0.707,0,5.58,1.062,1.199,1,0.999,15.756,"FamilyBased",".","ASD","WES",".","."]
[9059,25363768,20,33658734,33658734,"C","T","DeNovo",".",".","20q11.22","exonic","NECAB3",63941,".","nonsynonymous SNV","NECAB3:NM_031232:exon9:c.G980A:p.S327N,NECAB3:NM_031231:exon10:c.G878A:p.S293N",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.209,"T",0.771,"P",0.53,"P",0,"D",0.855,"D",1.355,"L",1.56,"T",-1.03,"N",0.066,4.236,23.9,0.991,0.58,"D",-1.032,"T",0.075,"T",0.706,0,2.88,0.871,0.038,0.995,0.986,7.97,"FamilyBased",".","ASD","WES",".","."]
[9081,25363768,20,38532803,38532803,"C","T","DeNovo",".",".","20q11.23","exonic","RALGAPB",57148,".","nonsynonymous SNV","RALGAPB:NM_001282917:exon15:c.C2189T:p.T730M,RALGAPB:NM_001282918:exon15:c.C2189T:p.T730M,RALGAPB:NM_020336:exon15:c.C2189T:p.T730M",".",".","rs41282830",0.0013,0.0149,0.0003,0,0,{"v":7.5e-05,"d":"7.50E-05"},0,0,0.00539137,".",".",".",".",".",0.088,"T",0.997,"D",0.855,"P",0,"D",1,"D",0.895,"L",".",".",-0.21,"N",0.347,3.894,23.5,0.992,0.964,"D",-0.788,"T",0.194,"T",0.732,0,5.76,0.871,0.935,0.999,0.996,19.972,"FamilyBased",".","ASD","WES",".","."]
[9101,25363768,20,47663531,47663531,"T","C","DeNovo",".",".","20q13.12","exonic","SULF2",55959,".","nonsynonymous SNV","SULF2:NM_001161841:exon16:c.A2149G:p.N717D,SULF2:NM_018837:exon16:c.A2149G:p.N717D,SULF2:NM_198596:exon16:c.A2149G:p.N717D",".",".","rs200041967",0.0008,0.0002,0.0025,0.0002,0,0.0009,0,{"v":6.08e-05,"d":"6.08E-05"},0.00159744,".",".",".",".",".",0.193,"T",1,"D",0.999,"D",0,"D",0.993,"D",2.25,"M",-5.35,"D",-1.56,"N",0.268,4.59,24.4,0.995,0.93,"D",1.152,"D",0.969,"D",0.722,0,5.94,0.991,1.061,1,1,16.398,"FamilyBased",".","ASD","WES",".","."]
[9135,25363768,20,64098037,64098037,"C","T","DeNovo",".",".","20q13.33","exonic","OPRL1",4987,".","nonsynonymous SNV","OPRL1:NM_001318854:exon2:c.C454T:p.R152C,OPRL1:NM_001318855:exon2:c.C382T:p.R128C,OPRL1:NM_000913:exon3:c.C469T:p.R157C,OPRL1:NM_182647:exon4:c.C469T:p.R157C,OPRL1:NM_001200019:exon5:c.C469T:p.R157C",".",".","rs762717438",{"v":2.49e-05,"d":"2.49E-05"},0,0,1E-4,0,{"v":1.52E-5,"d":"1.52E-05"},0.0011,0,".",".",".",".",".",".",0,"D",0.999,"D",0.877,"P",0,"D",1,"D",3.555,"H",0.95,"T",-5.8,"D",0.417,6.865,33,0.999,0.892,"D",-0.284,"T",0.297,"T",0.615,0,4.04,0.871,0.935,0.973,0.751,11.007,"FamilyBased",".","ASD","WES",".","."]
[9144,25363768,21,18352920,18352920,"G","C","DeNovo",".",".","21q21.1","exonic","TMPRSS15",5651,".","nonsynonymous SNV","TMPRSS15:NM_002772:exon10:c.C1154G:p.T385S","Enterokinase deficiency, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",1,"D",0,"D",1,"D",2.41,"M",4.14,"T",-2.18,"N",0.542,5.965,27.7,0.997,0.992,"D",-1.195,"T",0.039,"T",0.487,0,5.21,0.917,1.048,0.358,0.992,18.111,"FamilyBased",".","ASD","WES",".","."]
[9179,25363768,21,41992481,41992481,"C","T","DeNovo",".",".","21q22.3","exonic","ZBTB21",49854,".","nonsynonymous SNV","ZBTB21:NM_020727:exon2:c.G1615A:p.G539R,ZBTB21:NM_001098402:exon3:c.G1615A:p.G539R,ZBTB21:NM_001320731:exon4:c.G1615A:p.G539R",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.213,"T",0.974,"D",0.459,"P",0.007,"N",1,"D",1.39,"L",3.05,"T",-0.58,"N",0.419,3.64,23.2,0.998,0.954,"D",-1.053,"T",0.029,"T",0.651,0,5.77,0.871,0.852,0.995,0.998,19.991,"FamilyBased",".","ASD","WES",".","."]
[9220,25363768,22,20983079,20983079,"G","A","DeNovo",".",".","22q11.21","exonic","LZTR1",8216,".","nonsynonymous SNV","LZTR1:NM_006767:exon2:c.G253A:p.G85R","Noonan syndrome 10, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",1,"D",0,"D",1,"D",4.375,"H",-2.57,"D",-6.29,"D",0.976,6.983,33,0.999,0.962,"D",1.047,"D",0.896,"D",0.767,0,4.62,0.917,1.048,0.996,1,15.019,"FamilyBased",".","ASD","WES",".","."]
[9252,25363768,22,24850297,24850297,"G","T","DeNovo",".",".","22q11.23","exonic","SGSM1",129049,".","nonsynonymous SNV","SGSM1:NM_001039948:exon5:c.G320T:p.G107V,SGSM1:NM_001098497:exon5:c.G320T:p.G107V,SGSM1:NM_001098498:exon5:c.G320T:p.G107V,SGSM1:NM_133454:exon5:c.G320T:p.G107V",".",".","rs182989816",0.0002,0.0025,0,0,0,0,0,0,1.19808E-3,".",".",".",".",".",0.196,"T",0.918,"P",0.681,"P",1E-3,"D",1,"D",0.975,"L",3.24,"T",-3.11,"D",0.576,4.702,24.6,0.98,0.913,"D",-1.02,"T",0.03,"T",0.659,0,4.83,0.917,0.998,0.998,1,17.305,"FamilyBased",".","ASD","WES",".","."]
[9275,25363768,22,37001970,37001970,"G","A","DeNovo",".",".","22q12.3","exonic","TEX33",339669,".","nonsynonymous SNV","TEX33:NM_001163857:exon3:c.C356T:p.T119M,TEX33:NM_178552:exon3:c.C101T:p.T34M",".",".","rs201077237",0.0007,0,0.0003,0,3.3E-3,0.0008,0,0,1.99681E-4,".",".",".",".",".",0.09,"T",0.648,"P",0.075,"B",0.038,"N",1,"N",0.895,"L",".",".",-0.81,"N",0.095,1.712,14.47,0.991,0.003,"N",-1.016,"T",0.049,"T",0.497,0,-4.97,-0.29,-1.122,1E-3,0,5.857,"FamilyBased",".","ASD","WES",".","."]
[9323,25363768,22,50117297,50117297,"G","T","DeNovo",".",".","22q13.33","exonic","MOV10L1",54456,".","nonsynonymous SNV","MOV10L1:NM_001164104:exon9:c.G1400T:p.S467I,MOV10L1:NM_001164105:exon9:c.G1340T:p.S447I,MOV10L1:NM_018995:exon9:c.G1400T:p.S467I",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.301,"T",0.077,"B",0.019,"B",0.17,"N",1,"N",0.805,"L",-1.42,"T",-1.37,"N",0.421,0.256,5.255,0.83,0.101,"N",-0.775,"T",0.34,"T",0.646,0,0.79,-0.044,0.108,0.483,0.715,7.264,"FamilyBased",".","ASD","WES",".","."]
[9334,25363768,"X",640852,640852,"G","A","DeNovo",".",".","Xp22.33","exonic","SHOX",6473,".","nonsynonymous SNV","SHOX:NM_000451:exon4:c.G518A:p.R173H,SHOX:NM_006883:exon4:c.G518A:p.R173H","Langer mesomelic dysplasia, Autosomal recessive;Leri-Weill dyschondrosteosis, Autosomal dominant;Short stature, idiopathic familial",".","rs746801054",{"v":8.24e-06,"d":"8.24E-06"},0,0,0,0,{"v":1.5E-5,"d":"1.50E-05"},0,0,".",".",".",".",".",".",0,"D",1,"D",1,"D",0,"U",1,"N",4.35,"H",-4.47,"D",-4.32,"D",0.896,6.056,28.1,0.999,0.921,"D",0.765,"D",0.964,"D",".",".",1.36,0.693,0.627,0.992,0.638,11.181,"FamilyBased",".","ASD","WES",".","."]
[9344,25363768,"X",12810031,12810031,"G","A","DeNovo",".",".","Xp22.2","exonic","PRPS2",5634,".","nonsynonymous SNV","PRPS2:NM_001039091:exon4:c.G424A:p.D142N,PRPS2:NM_002765:exon4:c.G415A:p.D139N",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.421,"T",0.021,"B",0.057,"B",0,"N",1,"D",1.075,"L",-0.9,"T",-0.72,"N",0.152,3.002,22.2,0.993,0.972,"D",0.055,"D",0.689,"D",".",".",4.04,0.917,1.048,0.998,0.999,12.679,"FamilyBased",".","ASD","WES",".","."]
[9369,25363768,"X",41665396,41665396,"C","T","DeNovo",".",".","Xp11.4","exonic","CASK",8573,".","nonsynonymous SNV","CASK:NM_001126054:exon7:c.G589A:p.G197R,CASK:NM_001126055:exon7:c.G589A:p.G197R,CASK:NM_003688:exon7:c.G589A:p.G197R","FG syndrome 4;Mental retardation and microcephaly with pontine and cerebellar hypoplasia, X-linked dominant;Mental retardation, with or without nystagmus",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1E-3,"D",1,"D",1,"D",0,"D",1,"D",2.875,"M",0.58,"T",-4.91,"D",0.903,7.322,34,0.999,0.975,"D",-0.078,"T",0.42,"T",".",".",5.73,0.871,0.935,0.992,0.994,18.919,"FamilyBased",".","ASD","WES",".","."]
[9382,25363768,"X",49065820,49065820,"C","T","DeNovo",".",".","Xp11.23","exonic","CCDC120",90060,".","nonsynonymous SNV","CCDC120:NM_001163321:exon9:c.C1036T:p.R346W,CCDC120:NM_001163322:exon9:c.C895T:p.R299W,CCDC120:NM_001163323:exon9:c.C895T:p.R299W,CCDC120:NM_001271835:exon9:c.C931T:p.R311W,CCDC120:NM_001271836:exon9:c.C931T:p.R311W,CCDC120:NM_033626:exon9:c.C931T:p.R311W",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",0.993,"D",0,"D",0.999,"D",1.905,"M",".",".",-5.14,"D",0.815,7.485,34,0.999,0.929,"D",-0.385,"T",0.332,"T",".",".",5.47,0.871,0.932,0.993,0.997,11.046,"FamilyBased",".","ASD","WES",".","."]
[9398,25363768,"X",54923413,54923413,"C","T","DeNovo",".",".","Xp11.21","exonic","TRO",7216,".","nonsynonymous SNV","TRO:NM_001039705:exon3:c.C881T:p.A294V,TRO:NM_016157:exon3:c.C881T:p.A294V,TRO:NM_177556:exon3:c.C881T:p.A294V",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.139,"T",0.235,"B",0.043,"B",".",".",1,"N",0.695,"N",3.78,"T",-1.15,"N",0.21,0.176,4.423,0.961,0.012,"N",-1.05,"T",0.068,"T",".",".",2.26,0.541,0.874,0.069,0.09,5.416,"FamilyBased",".","ASD","WES",".","."]
[9411,25363768,"X",71155219,71155219,"C","T","DeNovo",".",".","Xq13.1","exonic","NLGN3",54413,".","nonsynonymous SNV","NLGN3:NM_001166660:exon3:c.C463T:p.R155W,NLGN3:NM_001321276:exon4:c.C172T:p.R58W,NLGN3:NM_018977:exon4:c.C523T:p.R175W,NLGN3:NM_181303:exon5:c.C583T:p.R195W",".","ID=COSM1599703,COSM1124755;OCCURENCE=1(endometrium)","rs794727647",".",".",".",".",".",".",".",".",".","Uncertain significance","not_specified","RCV000178320.1","MedGen","CN169374",0.003,"D",1,"D",0.982,"D",0,"U",1,"D",2.08,"M",-0.33,"T",-4.42,"D",0.814,7.435,34,0.999,0.989,"D",-0.01,"T",0.455,"T",".",".",4.46,0.871,0.888,1,1,16.461,"FamilyBased",".","ASD","WES",".","."]
[9431,25363768,"X",102656829,102656829,"G","T","DeNovo",".",".","Xq22.1","exonic","GPRASP1",9737,".","nonsynonymous SNV","GPRASP1:NM_001099411:exon3:c.G2916T:p.W972C,GPRASP1:NM_001099410:exon4:c.G2916T:p.W972C,GPRASP1:NM_014710:exon5:c.G2916T:p.W972C,GPRASP1:NM_001184727:exon6:c.G2916T:p.W972C",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.042,"D",0.964,"D",0.334,"B",".",".",1,"N",1.245,"L",3.08,"T",-1.64,"N",0.23,0.631,8.369,0.876,0.026,"N",-0.999,"T",0.018,"T",".",".",1.94,0.897,0.877,0.012,0.006,7.473,"FamilyBased",".","ASD","WES",".","."]
[9467,25363768,"X",139782593,139782593,"T","A","DeNovo",".",".","Xq27.1","exonic","ATP11C",286410,".","nonsynonymous SNV","ATP11C:NM_001010986:exon18:c.A1915T:p.I639F,ATP11C:NM_173694:exon18:c.A1915T:p.I639F",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1E-3,"D",0.845,"P",0.632,"P",0,"D",0.999,"D",3.63,"H",-0.55,"T",-3.25,"D",0.577,5.749,27,0.988,0.946,"D",0.089,"D",0.52,"D",".",".",4.52,0.991,0.964,0.994,0.684,10.014,"FamilyBased",".","ASD","WES",".","."]
[9478,25363768,"X",152917160,152917160,"A","G","DeNovo",".",".","Xq28","exonic","ZNF185",7739,".","nonsynonymous SNV","ZNF185:NM_001178106:exon4:c.A254G:p.Y85C,ZNF185:NM_001178107:exon4:c.A254G:p.Y85C,ZNF185:NM_001178108:exon4:c.A254G:p.Y85C,ZNF185:NM_001178109:exon4:c.A254G:p.Y85C,ZNF185:NM_001178110:exon4:c.A254G:p.Y85C,ZNF185:NM_007150:exon4:c.A254G:p.Y85C",".",".","rs782768543",{"v":1.15E-5,"d":"1.15E-05"},0,1E-4,0,0,0,0,0,".",".",".",".",".",".",0,"D",1,"D",0.999,"D",".",".",1,"D",1.67,"L",-0.06,"T",-6.05,"D",0.894,5.547,26.4,0.998,0.739,"D",-0.334,"T",0.352,"T",".",".",4.98,0.02,1.194,0.349,1,10.392,"FamilyBased",".","ASD","WES",".","."]
[9503,25621899,2,238145686,238145686,"G","A","DeNovo",".",".","2q37.3","exonic","KLHL30",377007,".","nonsynonymous SNV","KLHL30:NM_198582:exon5:c.G1004A:p.R335Q",".",".","rs541029231",{"v":6.52e-05,"d":"6.52E-05"},0,0,1.4E-3,0,0,0,0,1.99681E-4,".",".",".",".",".",0.221,"T",1,"D",1,"D",0,"D",0.999,"D",1.615,"L",-0.2,"T",-1.01,"N",0.528,6,27.8,0.999,0.984,"D",-0.361,"T",0.367,"T",0.403,0,4.62,0.917,0.067,0.995,0.49,16.239,"FamilyBased",".","ASD","WGS",".","."]
[9515,25621899,16,549291,549291,"C","A","DeNovo",".",".","16p13.3","exonic","CAPN15",6650,".","nonsynonymous SNV","CAPN15:NM_005632:exon6:c.C1662A:p.F554L",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.557,"T",0.999,"D",0.995,"D",0,"D",1,"D",-0.115,"N",-1.59,"D",-0.65,"N",0.681,3.902,23.5,0.982,0.975,"D",-0.387,"T",0.437,"T",0.732,0,5.04,0.868,0.847,0.96,0.774,16.974,"FamilyBased",".","ASD","WGS",".","."]
[9525,25621899,2,131140198,131140198,"C","T","DeNovo",".",".","2q21.1","exonic","PLEKHB2",55041,".","nonsynonymous SNV","PLEKHB2:NM_001267067:exon5:c.C325T:p.R109C,PLEKHB2:NM_001267068:exon5:c.C322T:p.R108C,PLEKHB2:NM_001309450:exon5:c.C209T:p.A70V,PLEKHB2:NM_001309448:exon6:c.C311T:p.A104V,PLEKHB2:NM_001309451:exon6:c.C308T:p.A103V,PLEKHB2:NM_001100623:exon7:c.C455T:p.A152V,PLEKHB2:NM_001267062:exon7:c.C455T:p.A152V,PLEKHB2:NM_001267063:exon7:c.C452T:p.A151V,PLEKHB2:NM_001267064:exon7:c.C476T:p.A159V,PLEKHB2:NM_001267065:exon7:c.C479T:p.A160V,PLEKHB2:NM_017958:exon7:c.C452T:p.A151V,PLEKHB2:NM_001309452:exon8:c.C311T:p.A104V",".",".","rs762177325",{"v":8.37e-06,"d":"8.37E-06"},0,0,0,0,{"v":1.52E-5,"d":"1.52E-05"},0,0,".",".",".",".",".",".",0.64,"T",0.003,"B",2E-3,"B",".",".",1,"N",0.755,"N",".",".",-0.33,"N",0.107,1.642,14.09,0.894,0.045,"N",-1.028,"T",0.064,"T",0.745,0,1.01,0.853,0.054,0.72,0.085,4.196,"FamilyBased",".","ASD","WGS",".","."]
[9544,25621899,11,6640319,6640319,"C","T","DeNovo",".",".","11p15.4","exonic","DCHS1",8642,".","nonsynonymous SNV","DCHS1:NM_003737:exon2:c.G1295A:p.R432Q","Mitral valve prolapse 2, Autosomal dominant;Van Maldergem syndrome 1, Autosomal recessive","ID=COSM1637138;OCCURENCE=1(bone)",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.022,"D",0.999,"D",0.993,"D",0.023,"N",1,"D",4.1,"H",0.27,"T",-3.42,"D",0.508,6.398,29.6,1,0.986,"D",0.395,"D",0.572,"D",0.707,0,5.67,0.871,0.927,0.996,0.971,18.752,"FamilyBased",".","ASD","WGS",".","."]
[9558,25621899,9,138049290,138049290,"G","A","DeNovo",".",".","9q34.3","exonic","CACNA1B",774,".","nonsynonymous SNV","CACNA1B:NM_000718:exon24:c.G3685A:p.G1229S,CACNA1B:NM_001243812:exon24:c.G3685A:p.G1229S",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.54,"T",0.966,"D",0.928,"D",0,"D",1,"D",1.02,"L",-4.35,"D",-5.96,"D",0.829,4.105,23.7,0.998,0.986,"D",0.852,"D",0.896,"D",0.515,0,5.13,0.917,0.902,1,0.992,18.166,"FamilyBased",".","ASD","WGS",".","."]
[9582,25621899,1,233227238,233227238,"G","A","DeNovo",".",".","1q42.2","exonic","PCNX2",80003,".","nonsynonymous SNV","PCNX2:NM_014801:exon10:c.C2492T:p.A831V",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.008,"D",1,"D",0.998,"D",".",".",1,"D",2.66,"M",-0.77,"T",-3.7,"D",0.826,5.478,26.2,0.999,0.998,"D",0.381,"D",0.62,"D",0.732,0,4.86,0.917,0.953,0.947,0.902,18.348,"FamilyBased",".","ASD","WGS",".","."]
[9605,25621899,1,35113743,35113743,"A","G","DeNovo",".",".","1p34.3","exonic","ZMYM1",79830,".","nonsynonymous SNV","ZMYM1:NM_001319955:exon9:c.A1688G:p.N563S,ZMYM1:NM_001289089:exon10:c.A1856G:p.N619S,ZMYM1:NM_024772:exon10:c.A1913G:p.N638S,ZMYM1:NM_001289088:exon11:c.A1913G:p.N638S,ZMYM1:NM_001289090:exon11:c.A1913G:p.N638S,ZMYM1:NM_001289091:exon11:c.A833G:p.N278S",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.156,"T",0.999,"D",0.992,"D",1E-3,"N",0.86,"N",2.175,"M",2.02,"T",-1.19,"N",0.081,0.947,10.36,0.991,0.774,"D",-1.006,"T",0.114,"T",0.563,0,3.51,0.722,1.14,0.982,0.948,8.954,"FamilyBased",".","ASD","WGS",".","."]
[9621,25621899,8,25858479,25858479,"G","C","DeNovo",".",".","8p21.2","exonic","EBF2",64641,".","nonsynonymous SNV","EBF2:NM_022659:exon14:c.C1368G:p.I456M",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.022,"D",0.286,"B",0.091,"B",0,"D",0.998,"D",0.69,"N",0.86,"T",-1.04,"N",0.399,3.232,22.8,0.989,0.887,"D",-1.016,"T",0.092,"T",0.487,0,4.67,0.917,0.138,1,0.997,13.749,"FamilyBased",".","ASD","WGS",".","."]
[9643,25621899,12,49050485,49050485,"G","T","DeNovo",".",".","12q13.12","exonic","KMT2D",8085,".","nonsynonymous SNV","KMT2D:NM_003482:exon11:c.C3103A:p.Q1035K","Kabuki syndrome 1, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.025,"D",2E-3,"B",2E-3,"B",0.582,"N",1,"N",0,"N",-1.14,"T",-0.43,"N",0.09,-1.609,2E-3,0.332,0.687,"D",-0.872,"T",0.218,"T",0.722,0,1.94,0.63,0.953,0.056,0.012,4.627,"FamilyBased",".","ASD","WGS",".","."]
[9656,25621899,17,4541557,4541557,"C","T","DeNovo",".",".","17p13.2","exonic","MYBBP1A",10514,".","nonsynonymous SNV","MYBBP1A:NM_001105538:exon24:c.G3203A:p.R1068H,MYBBP1A:NM_014520:exon24:c.G3203A:p.R1068H",".","ID=COSM1383986;OCCURENCE=1(large_intestine)","rs199584868",{"v":9.93e-05,"d":"9.93E-05"},{"v":9.68e-05,"d":"9.68E-05"},0,0,0,0.0002,0,0,1.99681E-4,".",".",".",".",".",0.03,"D",0.891,"P",0.198,"B",0.923,"N",1,"N",0.805,"L",-0.43,"T",-1.67,"N",0.264,3.304,22.9,0.991,0.096,"N",-0.997,"T",0.134,"T",0.672,0,0.815,0.008,0.049,0.009,0.283,5.521,"FamilyBased",".","ASD","WGS",".","."]
[9677,25621899,5,110748220,110748220,"C","T","DeNovo",".",".","5q22.1","exonic","SLC25A46",91137,".","nonsynonymous SNV","SLC25A46:NM_001303249:exon5:c.C520T:p.L174F,SLC25A46:NM_001303250:exon5:c.C247T:p.L83F,SLC25A46:NM_138773:exon5:c.C520T:p.L174F","Neuropathy, hereditary motor and sensory, type VIB, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.111,"T",0.999,"D",0.946,"D",0,"D",1,"D",2.15,"M",-0.75,"T",-2.61,"D",0.805,3.571,23.1,0.999,0.916,"D",0.411,"D",0.728,"D",0.707,0,5.44,0.871,0.935,1,1,18.856,"FamilyBased",".","ASD","WGS",".","."]
[9692,25621899,12,111347588,111347588,"G","A","DeNovo",".",".","12q24.12","exonic","CUX2",23316,".","nonsynonymous SNV","CUX2:NM_015267:exon22:c.G3724A:p.G1242R",".",".","rs201097767",0.0002,1E-4,0.0002,0,0,0.0002,0,0,".",".",".",".",".",".",0.1,"T",0.004,"B",0.003,"B",0.008,"N",0.968,"D",0.805,"L",0.94,"T",-2.25,"N",0.208,4.112,23.7,0.994,0.683,"D",-1.077,"T",0.062,"T",0.706,0,2.62,0.069,1.048,0.004,0.677,5.36,"FamilyBased",".","ASD","WGS",".","."]
[10505,27525107,16,2763214,2763214,"C","T","DeNovo",".","Germline","16p13.3","exonic","SRRM2",23524,".","nonsynonymous SNV","SRRM2:NM_016333:exon11:c.C2686T:p.P896S",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.009,"B",0.004,"B",0,"D",1,"N",0.975,"L",1.91,"T",-0.78,"N",0.198,0.007,2.652,0.261,0.312,"N",-0.988,"T",0.036,"T",0.707,0,3.65,0.871,0.007,0.994,0.998,7.625,"FamilyBased","canadian","ASD","WGS",".","."]
[11837,27525107,16,30665394,30665394,"A","C","DeNovo",".","Germline","16p11.2","exonic","FBRS",64319,".","nonsynonymous SNV","FBRS:NM_001105079:exon10:c.A1697C:p.Q566P",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",0.997,"D",0.986,"D",0.017,"U",1,"D",1.52,"L",0.7,"T",-4.25,"D",0.856,4.89,24.9,0.993,0.96,"D",-0.644,"T",0.231,"T",0.672,0,4.66,1.062,1.028,1,1,13.197,"FamilyBased","canadian","ASD","WGS",".","."]
[13596,27525107,17,10452084,10452084,"T","C","DeNovo","Father","Germline","17p13.1","exonic","MYH4",4622,".","nonsynonymous SNV","MYH4:NM_017533:exon27:c.A3595G:p.K1199E",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",2E-3,"D",0.746,"P",0.558,"P",1E-3,"U",1,"D",3.79,"H",-1.83,"D",-2.76,"D",0.839,3.879,23.5,0.998,0.994,"D",0.769,"D",0.765,"D",0.487,0,5.51,0.991,1.061,0.988,0.938,15.913,"FamilyBased","canadian","ASD","WGS",".","."]
[14015,27525107,15,82679729,82679729,"C","G","DeNovo",".","Germline","15q25.2","exonic","AP3B2",8120,".","nonsynonymous SNV","AP3B2:NM_001278511:exon9:c.G1086C:p.K362N,AP3B2:NM_001278512:exon10:c.G1182C:p.K394N,AP3B2:NM_004644:exon10:c.G1182C:p.K394N","Epileptic encephalopathy, early infantile, 48, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1E-3,"D",1,"D",1,"D",0,"D",1,"D",4.095,"H",2.54,"T",-4.61,"D",0.736,6.815,32,0.999,0.971,"D",-0.497,"T",0.175,"T",0.767,0,4.02,0.033,0.848,0.995,0.997,14.204,"FamilyBased","canadian","ASD","WGS",".","."]
[14928,27525107,1,112456865,112456865,"G","A","DeNovo",".","Germline","1p13.2","exonic","CTTNBP2NL",55917,".","nonsynonymous SNV","CTTNBP2NL:NM_018704:exon6:c.G1373A:p.R458Q",".",".","rs369269019",{"v":8.24e-06,"d":"8.24E-06"},0,0,0,0,{"v":1.5E-5,"d":"1.50E-05"},0,0,".",".",".",".",".",".",0,"D",1,"D",0.997,"D",0,"D",1,"D",2.375,"M",-0.13,"T",-2.42,"N",0.719,6.527,31,1,0.996,"D",-0.214,"T",0.405,"T",0.722,0,5.32,0.917,0.953,0.99,1,18.598,"FamilyBased","canadian","ASD","WGS",".","."]
[15726,27525107,15,49133946,49133946,"G","A","DeNovo",".","Germline","15q21.1","exonic","COPS2",9318,".","nonsynonymous SNV","COPS2:NM_001143887:exon8:c.C899T:p.P300L,COPS2:NM_004236:exon8:c.C878T:p.P293L",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1E-3,"D",1,"D",0.984,"D",0,"D",1,"D",3.225,"M",2.31,"T",-8.87,"D",0.854,5.255,25.7,0.999,0.997,"D",-0.732,"T",0.18,"T",0.707,0,5.93,0.917,1.048,1,1,20.346,"FamilyBased","canadian","ASD","WGS",".","."]
[16861,27525107,22,17904637,17904637,"T","C","DeNovo",".","Germline","22q11.21","exonic","MICAL3",57553,".","nonsynonymous SNV","MICAL3:NM_001122731:exon2:c.A467G:p.H156R,MICAL3:NM_001136004:exon2:c.A467G:p.H156R,MICAL3:NM_015241:exon3:c.A467G:p.H156R",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",1,"D",0,"D",1,"D",3.375,"M",3.24,"T",-7.49,"D",0.977,4.954,25,0.998,0.992,"D",-0.862,"T",0.107,"T",0.706,0,5.63,0.991,1.061,0.998,1,15.851,"FamilyBased","canadian","ASD","WGS",".","."]
[17085,27525107,6,35421836,35421836,"C","T","DeNovo",".","Germline","6p21.31","exonic","PPARD",5467,".","nonsynonymous SNV","PPARD:NM_001171819:exon4:c.C185T:p.T62M,PPARD:NM_006238:exon5:c.C302T:p.T101M,PPARD:NM_177435:exon5:c.C302T:p.T101M,PPARD:NM_001171818:exon6:c.C302T:p.T101M",".",".","rs200121630",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",1,"D",0,"D",1,"D",2.245,"M",-4.51,"D",-3.83,"D",0.89,7.349,34,0.999,0.979,"D",1.105,"D",0.949,"D",0.707,0,4.5,0.871,0.852,0.992,0.993,17.4,"FamilyBased","canadian","ASD","WGS",".","."]
[17676,27525107,19,18852172,18852172,"C","T","DeNovo",".","Germline","19p13.11","exonic","UPF1",5976,".","nonsynonymous SNV","UPF1:NM_001297549:exon6:c.C848T:p.P283L,UPF1:NM_002911:exon6:c.C848T:p.P283L",".",".","rs763818930",{"v":2.48E-5,"d":"2.48E-05"},0,0,0,0,{"v":4.52e-05,"d":"4.52E-05"},0,0,".",".",".",".",".",".",0.014,"D",0.595,"P",0.211,"B",0,"D",1,"D",2.395,"M",-2.63,"D",-8.32,"D",0.695,5.689,26.8,0.998,0.945,"D",0.549,"D",0.711,"D",0.722,0,5.19,0.871,0.935,0.991,0.997,17.687,"FamilyBased","canadian","ASD","WGS",".","."]
[18780,27525107,7,100113753,100113753,"T","C","DeNovo",".","Germline","7q22.1","exonic","TAF6",6878,".","nonsynonymous SNV","TAF6:NM_001190415:exon4:c.A371G:p.H124R,TAF6:NM_005641:exon4:c.A260G:p.H87R,TAF6:NM_139315:exon4:c.A260G:p.H87R","Alazami-Yuan syndrome, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.538,"T",0.015,"B",0.017,"B",0,"D",0.993,"D",1.735,"L",1.01,"T",-1.28,"N",0.549,1.454,13.07,0.95,0.952,"D",-1.016,"T",0.104,"T",0.707,0,5.72,0.991,0.964,0.997,0.719,14.003,"FamilyBased","canadian","ASD","WGS",".","."]
[20281,27525107,11,133935653,133935653,"G","A","DeNovo",".","Germline","11q25","exonic","IGSF9B",22997,".","nonsynonymous SNV","IGSF9B:NM_001277285:exon7:c.C931T:p.R311C",".",".","rs772569549",{"v":1.05e-05,"d":"1.05E-05"},0,0,0,0,0,0,{"v":7.66e-05,"d":"7.66E-05"},".",".",".",".",".",".",0.059,"T",0.996,"D",0.935,"D",".",".",1,"D",1.195,"L",-0.3,"T",-3.16,"D",0.547,6.297,29.1,0.999,0.925,"D",-0.275,"T",0.39,"T",0.696,0,5.36,0.917,1.048,0.998,1,19.088,"FamilyBased","canadian","ASD","WGS",".","."]
[20468,27525107,17,7900332,7900332,"C","G","DeNovo",".","Germline","17p13.1","exonic","CHD3",1107,".","nonsynonymous SNV","CHD3:NM_001005271:exon17:c.C2902G:p.L968V,CHD3:NM_001005273:exon17:c.C2725G:p.L909V,CHD3:NM_005852:exon17:c.C2725G:p.L909V",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",0.999,"D",0.994,"D",0.003,"N",1,"D",2.15,"M",-3.2,"D",-2.87,"D",0.817,4.593,24.4,0.988,0.962,"D",0.739,"D",0.848,"D",0.719,0,2.9,0.008,0.049,0.999,0.998,8.794,"FamilyBased","canadian","ASD","WGS",".","."]
[21547,22495311,3,47661389,47661389,"T","C","DeNovo",".",".","3p21.31","exonic","SMARCC1",6599,".","nonsynonymous SNV","SMARCC1:NM_003074:exon21:c.A2225G:p.Q742R",".",".","rs768188371",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.016,"D",0.791,"P",0.368,"B",0,"D",1,"D",2.215,"M",1.16,"T",-2.11,"N",0.525,2.463,19.23,0.996,0.983,"D",-0.969,"T",0.112,"T",0.719,0,4.71,0.991,1.061,0.998,0.998,10.905,"FamilyBased",".","ASD","WES",".","."]
[21563,22495311,4,186603454,186603454,"T","C","DeNovo",".",".","4q35.2","exonic","FAT1",2195,".","nonsynonymous SNV","FAT1:NM_005245:exon19:c.A11072G:p.H3691R",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.159,"T",0.134,"B",0.021,"B",0,"D",0.974,"D",0,"N",1.01,"T",-0.29,"N",0.203,1.234,11.93,0.871,0.985,"D",-1.06,"T",0.054,"T",0.672,0,4.88,0.991,0.964,0.582,0.997,14.648,"FamilyBased",".","ASD","WES",".","."]
[21580,22495311,6,84760338,84760338,"C","G","DeNovo",".",".","6q14.3","exonic","TBX18",9096,".","nonsynonymous SNV","TBX18:NM_001080508:exon3:c.G516C:p.M172I","Congenital anomalies of kidney and urinary tract 2, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.317,"T",0.387,"B",0.289,"B",0,"D",1,"D",-0.945,"N",-2.21,"D",-0.07,"N",0.484,4.121,23.8,0.981,0.979,"D",-0.483,"T",0.26,"T",0.628,0,6.03,0.871,0.935,0.998,1,20.575,"FamilyBased",".","ASD","WES",".","."]
[21605,22495311,10,63208182,63208182,"T","C","DeNovo",".",".","10q21.3","exonic","JMJD1C",221037,".","nonsynonymous SNV","JMJD1C:NM_001322254:exon8:c.A2830G:p.I944V,JMJD1C:NM_001282948:exon9:c.A2941G:p.I981V,JMJD1C:NM_001318153:exon9:c.A2623G:p.I875V,JMJD1C:NM_001322252:exon9:c.A3373G:p.I1125V,JMJD1C:NM_001322258:exon9:c.A2830G:p.I944V,JMJD1C:NM_001318154:exon10:c.A2941G:p.I981V,JMJD1C:NM_032776:exon10:c.A3487G:p.I1163V",".","ID=COSM302446,COSM302447;OCCURENCE=1(central_nervous_system)",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.208,"T",1E-3,"B",1E-3,"B",0.022,"N",0.975,"N",0.345,"N",0.6,"T",-0.2,"N",0.065,-0.389,0.412,0.812,0.76,"D",-1.042,"T",0.087,"T",0.722,0,-1.63,-0.409,0.146,0.934,0.999,9.227,"FamilyBased",".","ASD","WES",".","."]
[21608,22495311,10,86943514,86943514,"C","T","DeNovo",".",".","10q23.2","exonic","MMRN2",79812,".","nonsynonymous SNV","MMRN2:NM_024756:exon6:c.G1270A:p.D424N",".","ID=COSM282838;OCCURENCE=1(large_intestine)",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.007,"D",0.992,"D",0.313,"B",0.83,"N",1,"N",2.015,"M",-0.44,"T",-2.28,"N",0.03,5.146,25.4,0.997,0.261,"N",-0.874,"T",0.238,"T",0.707,0,3.09,0.871,0.935,0.429,0.862,8.077,"FamilyBased",".","ASD","WES",".","."]
[21631,22495311,12,56235240,56235240,"C","T","DeNovo",".",".","12q13.3","exonic","SLC39A5",283375,".","nonsynonymous SNV","SLC39A5:NM_001135195:exon5:c.C718T:p.R240C,SLC39A5:NM_173596:exon7:c.C718T:p.R240C","Myopia 24, autosomal dominant, Autosomal dominant","ID=COSM3812572;OCCURENCE=1(breast)","rs745642336",{"v":1.78e-05,"d":"1.78E-05"},0,0,0,0,0,0,0.0002,".",".",".",".",".",".",0.045,"D",0.975,"D",0.663,"P",0.107,"N",0.512,"N",2.095,"M",0.69,"T",-0.11,"N",0.38,4.682,24.6,0.999,0.177,"N",-0.263,"T",0.295,"T",0.01,3,4.44,0.033,0.935,0.038,0.875,12.488,"FamilyBased",".","ASD","WES",".","."]
[21668,22495311,18,2743778,2743778,"A","G","DeNovo",".",".","18p11.32","exonic","SMCHD1",23347,".","nonsynonymous SNV","SMCHD1:NM_015295:exon29:c.A3651G:p.I1217M","Bosma arhinia microphthalmia syndrome, Autosomal dominant;Fascioscapulohumeral muscular dystrophy 2, digenic",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.212,"T",1E-3,"B",0.003,"B",0,"D",0.992,"N",0.29,"N",1.82,"T",-0.45,"N",0.149,1.801,14.99,0.856,0.563,"D",-1.035,"T",0.028,"T",0.732,0,4.26,0.078,1.14,0.944,0.979,1.423,"FamilyBased",".","ASD","WES",".","."]
[21670,22495311,19,643270,643270,"G","A","DeNovo",".",".","19p13.3","exonic","FGF22",27006,".","nonsynonymous SNV","FGF22:NM_001300812:exon2:c.G250A:p.V84M,FGF22:NM_020637:exon2:c.G250A:p.V84M",".",".","rs377152236",{"v":6.7e-05,"d":"6.70E-05"},1E-4,0,0.0004,0,{"v":5.21e-05,"d":"5.21E-05"},0,0,1.99681E-4,".",".",".",".",".",0.02,"D",1,"D",1,"D",0,"D",1,"D",2.845,"M",0.32,"T",-2.26,"N",0.79,4.205,23.9,0.998,0.953,"D",0.703,"D",0.77,"D",0.646,0,4.17,0.897,0.951,0.981,0.152,15.058,"FamilyBased",".","ASD","WES",".","."]
[21708,28344757,20,34979706,34979706,"C","G","DeNovo",".",".","20q11.22","exonic","MYH7B",57644,".","nonsynonymous SNV","MYH7B:NM_020884:exon7:c.C370G:p.R124G",".",".","rs572570454",{"v":8.3e-06,"d":"8.30E-06"},0,0,0,0,{"v":1.5E-5,"d":"1.50E-05"},0,0,".",".",".",".",".",".",0,"D",0.362,"B",0.077,"B",2E-3,"N",0.938,"D",0.795,"N",-0.57,"T",-3.39,"D",0.282,4.664,24.5,0.997,0.942,"D",-0.792,"T",0.169,"T",0.554,0,3.36,0.871,0.848,0.976,0.895,5.974,"FamilyBased",".","ASD","WES",".","."]
[21726,28344757,17,41059968,41059968,"G","A","DeNovo",".",".","17q21.2","exonic","KRTAP2-3",730755,".","nonsynonymous SNV","KRTAP2-3:NM_001165252:exon1:c.C83T:p.P28L",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.009,"D",0.999,"D",0.977,"D",0.534,"U",1,"D",".",".",1.57,"T",-3.12,"D",0.48,4.148,23.8,0.998,0.799,"D",-0.989,"T",0.224,"T",0.487,0,5.47,0.917,0.964,0.998,1,14.872,"FamilyBased",".","ASD","WES",".","."]
[21747,28344757,11,64900526,64900526,"G","A","DeNovo",".",".","11q13.1","exonic","ATG2A",23130,".","nonsynonymous SNV","ATG2A:NM_015104:exon31:c.C4432T:p.H1478Y",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.008,"D",0.607,"P",0.461,"P",0,"D",1,"D",2.195,"M",3.01,"T",-4.24,"D",0.558,4.702,24.6,0.998,0.928,"D",-1.15,"T",0.052,"T",0.707,0,4.7,0.63,1.048,0.976,0.993,15.523,"FamilyBased",".","ASD","WES",".","."]
[21756,28344757,1,181717152,181717152,"C","T","DeNovo",".",".","1q25.3","exonic","CACNA1E",777,".","nonsynonymous SNV","CACNA1E:NM_000721:exon11:c.C1375T:p.R459W,CACNA1E:NM_001205293:exon11:c.C1375T:p.R459W,CACNA1E:NM_001205294:exon11:c.C1375T:p.R459W",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.384,"T",1,"D",0.996,"D",0.347,"N",1,"D",1.995,"M",-4.12,"D",-1.75,"N",0.883,6.565,31,0.999,0.979,"D",0.979,"D",0.927,"D",0.563,0,5.32,0.853,0.852,1,1,18.96,"FamilyBased",".","ASD","WES",".","."]
[21768,28344757,1,75922148,75922148,"C","T","DeNovo",".",".","1p31.1","exonic","ASB17",127247,".","nonsynonymous SNV","ASB17:NM_080868:exon2:c.G613A:p.E205K",".",".","rs868213936",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",0.993,"D",0.956,"D",0.04,"N",0.904,"N",0.695,"N",0.91,"T",-0.17,"N",0.608,3.399,23,0.997,0.773,"D",-1.005,"T",0.099,"T",0.487,0,4.81,0.577,0.892,0.969,0.993,13.781,"FamilyBased",".","ASD","WES",".","."]
[21785,28344757,19,10353593,10353593,"C","T","DeNovo",".",".","19p13.2","exonic","TYK2",7297,".","nonsynonymous SNV","TYK2:NM_003331:exon21:c.G2962A:p.D988N","Immunodeficiency 35, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.004,"D",0.985,"D",0.899,"P",1E-3,"N",1,"D",0.73,"N",-2.62,"D",-3.33,"D",0.121,7.377,34,0.999,0.925,"D",0.592,"D",0.72,"D",0.707,0,5.46,0.871,0.935,0.998,1,16.79,"FamilyBased",".","ASD","WES",".","."]
[22741,28831199,"X",128051269,128051269,"C","T","DeNovo",".",".","Xq25","exonic","ACTRT1",139741,".","nonsynonymous SNV","ACTRT1:NM_138289:exon1:c.G938A:p.R313K",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",0.998,"D",0,"D",0.985,"D",3.67,"H",-5.72,"D",-2.6,"D",0.71,2.976,22.2,0.992,0.954,"D",1.037,"D",0.983,"D",".",".",3.58,0.871,0.935,0.043,0.562,12.257,"FamilyBased","chinese","ASD","Targeted",".","."]
[22747,28831199,12,123726246,123726246,"T","G","DeNovo",".",".","12q24.31","exonic","ATP6V0A2",23545,".","nonsynonymous SNV","ATP6V0A2:NM_012463:exon5:c.T482G:p.L161W","Cutis laxa, autosomal recessive, type IIA, Autosomal recessive;Wrinkly skin syndrome, Autosomal recessive",".","rs750042310",{"v":1.65e-05,"d":"1.65E-05"},0,0,0.0002,0,0,0,0,".",".",".",".",".",".",0.066,"T",0.99,"D",0.755,"P",0.006,"N",0.897,"D",3.02,"M",-2.35,"D",-3.25,"D",0.332,5.49,26.2,0.963,0.963,"D",0.689,"D",0.775,"D",0.722,0,5.92,0.991,1.06,1,0.884,9.175,"FamilyBased","chinese","ASD","Targeted",".","."]
[22785,28831199,16,20985212,20985212,"G","T","DeNovo",".",".","16p12.3","exonic","DNAH3",55567,".","nonsynonymous SNV","DNAH3:NM_001347886:exon48:c.C7392A:p.N2464K,DNAH3:NM_017539:exon48:c.C7530A:p.N2510K",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",1,"D",0,"D",1,"D",4.165,"H",1.07,"T",-6,"D",0.447,5.768,27,0.999,0.961,"D",0.061,"D",0.399,"T",0.487,0,5.33,0.917,0.953,1,0.992,12.826,"FamilyBased","chinese","ASD","Targeted",".","."]
[22796,28831199,20,48976192,48976192,"A","G","DeNovo",".",".","20q13.13","exonic","ARFGEF2",10564,".","nonsynonymous SNV","ARFGEF2:NM_006420:exon14:c.A1951G:p.I651V","Periventricular heterotopia with microcephaly, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.048,"D",0.992,"D",0.934,"D",0,"D",1,"D",2.01,"M",0.62,"T",-1,"N",0.556,5.648,26.6,0.999,0.994,"D",-0.554,"T",0.274,"T",0.731,0,5.79,1.062,1.194,0.997,0.994,16.135,"FamilyBased","chinese","ASD","Targeted",".","."]
[22815,28831199,11,71437835,71437835,"G","T","DeNovo",".",".","11q13.4","exonic","DHCR7",1717,".","nonsynonymous SNV","DHCR7:NM_001163817:exon8:c.C940A:p.L314M,DHCR7:NM_001360:exon8:c.C940A:p.L314M","Smith-Lemli-Opitz syndrome, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.043,"D",1,"D",1,"D",0,"D",1,"D",1.98,"M",-4.7,"D",-1.66,"N",0.603,5.314,25.8,0.996,0.897,"D",1.076,"D",0.941,"D",0.707,0,4.57,0.917,1.048,1,0.98,14.874,"FamilyBased","chinese","ASD","Targeted",".","."]
[22828,28831199,15,48796111,48796111,"G","A","DeNovo",".",".","15q21.1","exonic","CEP152",22995,".","nonsynonymous SNV","CEP152:NM_001194998:exon6:c.C590T:p.P197L,CEP152:NM_014985:exon6:c.C590T:p.P197L","Microcephaly 9, primary, autosomal recessive, Autosomal recessive;Seckel syndrome 5, Autosomal recessive",".","rs772331237",{"v":3.31e-05,"d":"3.31E-05"},0,0,0.0005,0,0,0,0,".",".",".",".",".",".",0.005,"D",1,"D",0.999,"D",0,"D",1,"D",2.395,"M",-1.77,"D",-5.23,"D",0.526,6.062,28.1,0.999,0.933,"D",0.558,"D",0.727,"D",0.741,0,5.67,0.917,0.998,0.579,0.362,17.943,"FamilyBased","chinese","ASD","Targeted",".","."]
[22844,28831199,7,103596657,103596657,"C","T","DeNovo",".",".","7q22.1","exonic","RELN",5649,".","nonsynonymous SNV","RELN:NM_005045:exon25:c.G3338A:p.G1113E,RELN:NM_173054:exon25:c.G3338A:p.G1113E","Lissencephaly 2 (Norman-Roberts type), Autosomal recessive",".","rs751103966",{"v":8.28e-06,"d":"8.28E-06"},0,0,0,0,{"v":1.5E-5,"d":"1.50E-05"},0,0,".",".",".",".",".",".",0.019,"D",1,"D",0.997,"D",0,"D",1,"D",2.31,"M",1.81,"T",-3.14,"D",0.977,6.865,33,0.998,0.981,"D",-0.834,"T",0.189,"T",0.615,0,5.81,0.871,0.935,0.831,0.996,20.076,"FamilyBased","chinese","ASD","Targeted",".","."]
[22855,28831199,11,66866195,66866195,"G","A","DeNovo",".",".","11q13.2","exonic","PC",5091,".","nonsynonymous SNV","PC:NM_022172:exon9:c.C1177T:p.R393C,PC:NM_000920:exon10:c.C1177T:p.R393C,PC:NM_001040716:exon11:c.C1177T:p.R393C","Pyruvate carboxylase deficiency, Autosomal recessive",".","rs757589132",{"v":1.7E-5,"d":"1.70E-05"},1E-4,0,1E-4,0,0,0,0,".",".",".",".",".",".",0,"D",0.999,"D",0.971,"D",0,"D",1,"D",3.4,"M",-1.61,"D",-6.12,"D",0.94,7.348,34,0.999,0.878,"D",0.789,"D",0.772,"D",0.718,0,4.67,0.917,1.048,0.989,0.98,15.062,"FamilyBased","chinese","ASD","Targeted",".","."]
[22883,28831199,8,99391680,99391680,"C","A","DeNovo",".",".","8q22.2","exonic","VPS13B",157680,".","nonsynonymous SNV","VPS13B:NM_017890:exon21:c.C3058A:p.P1020T,VPS13B:NM_152564:exon21:c.C3058A:p.P1020T","Cohen syndrome, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",0.999,"D",0,"D",1,"D",1.04,"L",0.61,"T",-2.32,"N",0.847,6.432,29.8,0.998,0.952,"D",-0.682,"T",0.237,"T",0.657,0,5.78,0.871,0.892,0.976,0.987,19.996,"FamilyBased","chinese","ASD","Targeted",".","."]
[22885,28831199,22,36288771,36288771,"G","A","DeNovo",".",".","22q12.3","exonic","MYH9",4627,".","nonsynonymous SNV","MYH9:NM_002473:exon33:c.C4726T:p.R1576W","Deafness, autosomal dominant 17, Autosomal dominant;Epstein syndrome, Autosomal dominant;Fechtner syndrome, Autosomal dominant;Macrothrombocytopenia and progressive sensorineural deafness, Autosomal dominant;May-Hegglin anomaly, Autosomal dominant;Sebastian syndrome, Autosomal dominant",".","rs199722926",{"v":6.62e-05,"d":"6.62E-05"},{"v":9.74e-05,"d":"9.74E-05"},0,0,0,{"v":1.51e-05,"d":"1.51E-05"},0,0.0004,1.99681E-4,".",".",".",".",".",0,"D",0.999,"D",0.978,"D",0,"D",1,"D",2.94,"M",-1.39,"T",-6.35,"D",0.772,7.81,35,0.999,0.916,"D",0.626,"D",0.731,"D",0.672,0,5.25,0.917,0.135,0.998,0.932,19.215,"FamilyBased","chinese","ASD","Targeted",".","."]
[22901,28831199,5,58458811,58458811,"G","A","DeNovo",".",".","5q11.2","exonic","PLK2",10769,".","nonsynonymous SNV","PLK2:NM_006622:exon3:c.C409T:p.L137F,PLK2:NM_001252226:exon4:c.C367T:p.L123F",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",2E-3,"D",1,"D",1,"D",0,"D",1,"D",2.06,"M",1.34,"T",-3.73,"D",0.876,6.022,27.9,0.999,0.932,"D",-0.715,"T",0.245,"T",0.609,0,6.17,0.917,1.048,0.976,0.984,20.879,"FamilyBased","chinese","ASD","Targeted",".","."]
[22918,28831199,15,98911351,98911351,"C","T","DeNovo",".",".","15q26.3","exonic","IGF1R",3480,".","nonsynonymous SNV","IGF1R:NM_000875:exon7:c.C1499T:p.T500M,IGF1R:NM_001291858:exon7:c.C1499T:p.T500M","Insulin-like growth factor I, resistance to, Autosomal recessive, Autosomal dominant","ID=COSM1210341;OCCURENCE=1(large_intestine)","rs146408770",{"v":5.77E-5,"d":"5.77E-05"},0.0002,0,0.0002,0,{"v":3e-05,"d":"3.00E-05"},0,{"v":6.06e-05,"d":"6.06E-05"},".","Uncertain significance","Insulin-Like_Growth_Factor_I_Resistance","RCV000403167.1","MedGen","CN239364",0.005,"D",1,"D",0.978,"D",0,"D",1,"D",2.71,"M",-0.45,"T",-3.63,"D",0.81,7.551,34,0.999,0.994,"D",0.134,"D",0.548,"D",0.707,0,5.67,0.871,0.935,0.884,0.989,20.131,"FamilyBased","chinese","ASD","Targeted",".","."]
[22938,28831199,12,123726246,123726246,"T","G","DeNovo",".",".","12q24.31","exonic","ATP6V0A2",23545,".","nonsynonymous SNV","ATP6V0A2:NM_012463:exon5:c.T482G:p.L161W","Cutis laxa, autosomal recessive, type IIA, Autosomal recessive;Wrinkly skin syndrome, Autosomal recessive",".","rs750042310",{"v":1.65e-05,"d":"1.65E-05"},0,0,0.0002,0,0,0,0,".",".",".",".",".",".",0.066,"T",0.99,"D",0.755,"P",0.006,"N",0.897,"D",3.02,"M",-2.35,"D",-3.25,"D",0.332,5.49,26.2,0.963,0.963,"D",0.689,"D",0.775,"D",0.722,0,5.92,0.991,1.06,1,0.884,9.175,"FamilyBased","chinese","ASD","Targeted",".","."]
[22952,28831199,4,150350158,150350158,"G","A","DeNovo",".",".","4q31.3","exonic","LRBA",987,".","nonsynonymous SNV","LRBA:NM_001199282:exon48:c.C7196T:p.A2399V,LRBA:NM_006726:exon49:c.C7229T:p.A2410V","Immunodeficiency, common variable, 8, with autoimmunity, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1E-3,"D",0.998,"D",0.976,"D",0,"D",1,"D",3.575,"H",-1.53,"D",-2.97,"D",0.87,6.824,32,0.999,0.991,"D",0.447,"D",0.625,"D",0.706,0,5.69,0.917,1.048,0.993,0.994,19.816,"FamilyBased","chinese","ASD","Targeted",".","."]
[22970,28831199,1,81979873,81979873,"A","T","DeNovo",".",".","1p31.1","exonic","ADGRL2",23266,".","nonsynonymous SNV","ADGRL2:NM_001297705:exon16:c.A2975T:p.N992I,ADGRL2:NM_001297706:exon16:c.A2975T:p.N992I,ADGRL2:NM_001350699:exon16:c.A2975T:p.N992I,ADGRL2:NM_012302:exon16:c.A2975T:p.N992I,ADGRL2:NM_001297704:exon17:c.A2975T:p.N992I,ADGRL2:NM_001330645:exon17:c.A3014T:p.N1005I,ADGRL2:NM_001350698:exon18:c.A3026T:p.N1009I",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",0.999,"D",0,"D",1,"D",3.96,"H",-0.91,"T",-8.41,"D",0.802,5.106,25.3,0.981,0.986,"D",0.697,"D",0.698,"D",0.706,0,5.98,1.062,1.14,0.999,0.996,16.47,"FamilyBased","chinese","ASD","Targeted",".","."]
[22984,28831199,2,165313679,165313679,"C","T","DeNovo",".",".","2q24.3","exonic","SCN2A",6326,".","nonsynonymous SNV","SCN2A:NM_001040143:exon8:c.C1094T:p.T365M,SCN2A:NM_001040142:exon9:c.C1094T:p.T365M,SCN2A:NM_021007:exon9:c.C1094T:p.T365M","Epileptic encephalopathy, early infantile, 11, Autosomal dominant;Seizures, benign familial infantile, 3, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",1,"D",1E-3,"D",1,"D",2.97,"M",-5.14,"D",-5.61,"D",0.876,6.835,33,0.999,0.984,"D",1.09,"D",0.976,"D",0.487,0,5.77,0.871,0.935,0.996,0.907,20.363,"FamilyBased","chinese","ASD","Targeted",".","."]
[23011,28831199,16,21000482,21000482,"G","A","DeNovo",".",".","16p12.3","exonic","DNAH3",55567,".","nonsynonymous SNV","DNAH3:NM_001347886:exon43:c.C6025T:p.R2009W,DNAH3:NM_017539:exon43:c.C6163T:p.R2055W",".",".","rs780687704",{"v":4.24e-05,"d":"4.24E-05"},0,0,0,0,{"v":6.08e-05,"d":"6.08E-05"},0,{"v":7.15e-05,"d":"7.15E-05"},".",".",".",".",".",".",1E-3,"D",1,"D",0.999,"D",0,"D",1,"D",4.34,"H",0.7,"T",-6.5,"D",0.856,7.057,33,0.999,0.931,"D",0.264,"D",0.467,"T",0.497,0,4.66,-0.033,0.097,0.998,0.987,13.227,"FamilyBased","chinese","ASD","Targeted",".","."]
[23015,28831199,12,123756905,123756905,"C","T","DeNovo",".",".","12q24.31","exonic","ATP6V0A2",23545,".","nonsynonymous SNV","ATP6V0A2:NM_012463:exon19:c.C2384T:p.A795V","Cutis laxa, autosomal recessive, type IIA, Autosomal recessive;Wrinkly skin syndrome, Autosomal recessive",".","rs139509075",0.0002,0.0022,0,1E-4,0,{"v":1.5E-5,"d":"1.50E-05"},0,0.0003,1.99681E-4,".",".",".",".",".",0.076,"T",0.128,"B",0.137,"B",0,"D",1,"D",2.01,"M",-2.23,"D",-3.01,"D",0.438,4.575,24.4,0.997,0.948,"D",0.134,"D",0.645,"D",0.707,0,5.71,0.871,0.935,0.059,0.003,19.858,"FamilyBased","chinese","ASD","Targeted",".","."]
[23040,28831199,11,64840241,64840241,"C","T","DeNovo",".",".","11q13.1","exonic","CDC42BPG",55561,".","nonsynonymous SNV","CDC42BPG:NM_017525:exon5:c.G460A:p.G154R",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",1,"D",0,"D",1,"D",3.235,"M",1.17,"T",-6.92,"D",0.925,6.058,28.1,0.999,0.976,"D",-0.301,"T",0.302,"T",0.696,0,5.27,0.871,0.935,0.943,0.336,16.745,"FamilyBased","chinese","ASD","Targeted",".","."]
[23055,28831199,16,53304500,53304500,"C","T","DeNovo",".",".","16q12.2","exonic","CHD9",80205,".","nonsynonymous SNV","CHD9:NM_001308319:exon30:c.C6494T:p.S2165F,CHD9:NM_025134:exon31:c.C6494T:p.S2165F",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.004,"D",0.998,"D",0.994,"D",0.006,"N",1,"D",1.5,"L",-2.09,"D",-1.5,"N",0.499,3.352,22.9,0.989,0.988,"D",0.546,"D",0.743,"D",0.707,0,5.83,0.871,0.92,0.999,0.998,20.118,"FamilyBased","chinese","ASD","Targeted",".","."]
[23070,28831199,16,76476040,76476040,"A","G","DeNovo",".",".","16q23.1","exonic","CNTNAP4",85445,".","nonsynonymous SNV","CNTNAP4:NM_001322178:exon10:c.A1607G:p.H536R,CNTNAP4:NM_001322180:exon10:c.A1370G:p.H457R,CNTNAP4:NM_001322190:exon10:c.A1613G:p.H538R,CNTNAP4:NM_001322191:exon10:c.A830G:p.H277R,CNTNAP4:NM_138994:exon10:c.A1538G:p.H513R,CNTNAP4:NM_001322179:exon11:c.A1757G:p.H586R,CNTNAP4:NM_001322181:exon11:c.A1754G:p.H585R,CNTNAP4:NM_001322188:exon11:c.A1757G:p.H586R,CNTNAP4:NM_033401:exon11:c.A1757G:p.H586R,CNTNAP4:NM_001322187:exon12:c.A341G:p.H114R,CNTNAP4:NM_001322189:exon12:c.A1493G:p.H498R",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1E-3,"D",1,"D",0.999,"D",1E-3,"D",1,"D",".",".",2.5,"T",-7.41,"D",0.919,3.884,23.5,0.998,0.993,"D",-0.994,"T",0.109,"T",0.487,0,5.32,1.062,1.199,0.867,0.976,15.453,"FamilyBased","chinese","ASD","Targeted",".","."]
[23083,28831199,9,69216366,69216366,"G","C","DeNovo",".",".","9q21.11","exonic","TJP2",9414,".","nonsynonymous SNV","TJP2:NM_001170415:exon3:c.G154C:p.V52L,TJP2:NM_001170416:exon3:c.G235C:p.V79L,TJP2:NM_004817:exon3:c.G142C:p.V48L,TJP2:NM_201629:exon3:c.G142C:p.V48L,TJP2:NM_001170414:exon4:c.G73C:p.V25L","Cholestasis, progressive familial intrahepatic 4, Autosomal recessive;Hypercholanemia, familial",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.007,"D",0.998,"D",0.998,"D",0,"D",1,"D",1.125,"L",1.73,"T",-1.8,"N",0.806,6.412,29.7,0.998,0.982,"D",-0.997,"T",0.132,"T",0.731,0,5.63,0.917,1.048,0.989,0.997,20.04,"FamilyBased","chinese","ASD","Targeted",".","."]
[23100,28831199,1,6477615,6477615,"G","A","DeNovo",".",".","1p36.31","exonic","PLEKHG5",57449,".","nonsynonymous SNV","PLEKHG5:NM_001265593:exon2:c.C164T:p.P55L,PLEKHG5:NM_001042663:exon3:c.C125T:p.P42L,PLEKHG5:NM_001265592:exon3:c.C194T:p.P65L,PLEKHG5:NM_198681:exon3:c.C188T:p.P63L","Charcot-Marie-Tooth disease, recessive intermediate C, Autosomal recessive;Spinal muscular atrophy, distal, autosomal recessive, 4, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",0.999,"D",0,"D",1,"D",1.955,"M",-0.21,"T",-4.46,"D",0.774,6.335,29.3,0.999,0.972,"D",-0.045,"T",0.449,"T",0.707,0,4.52,0.917,1.048,0.997,0.945,16.188,"FamilyBased","chinese","ASD","Targeted",".","."]
[23112,28831199,2,166041398,166041398,"A","G","DeNovo",".",".","2q24.3","exonic","SCN1A",6323,".","nonsynonymous SNV","SCN1A:NM_001165963:exon13:c.T2248C:p.C750R,SCN1A:NM_001165964:exon13:c.T2164C:p.C722R,SCN1A:NM_006920:exon13:c.T2215C:p.C739R,SCN1A:NM_001202435:exon15:c.T2248C:p.C750R","Epilepsy, generalized, with febrile seizures plus, type 2, Autosomal dominant;Epileptic encephalopathy, early infantile, 6, Autosomal dominant;Febrile seizures, familial, 3A, Autosomal dominant;Migraine, familial hemiplegic, 3, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",0.353,"B",0.134,"B",0,"D",1,"D",3.935,"H",-4.2,"D",-11.62,"D",0.974,5.317,25.8,0.998,0.953,"D",1.041,"D",0.929,"D",0.554,0,5.54,1.062,1.14,1,1,15.96,"FamilyBased","chinese","ASD","Targeted",".","."]
[23144,28831199,1,220213938,220213938,"C","A","DeNovo",".",".","1q41","exonic","RAB3GAP2",25782,".","nonsynonymous SNV","RAB3GAP2:NM_012414:exon3:c.G222T:p.W74C","Martsolf syndrome, Autosomal recessive;Warburg micro syndrome 2, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",2E-3,"D",0.999,"D",0.958,"D",0,"D",1,"D",1.975,"M",0.36,"T",-8.61,"D",0.978,7.339,34,0.993,0.996,"D",-0.431,"T",0.33,"T",0.732,0,5.7,0.871,0.892,0.999,0.998,19.42,"FamilyBased","chinese","ASD","Targeted",".","."]
[23145,28831199,3,195761559,195761559,"C","T","DeNovo",".",".","3q29","exonic","MUC4",4585,".","nonsynonymous SNV","MUC4:NM_138297:exon13:c.G1678A:p.D560N,MUC4:NM_004532:exon14:c.G1831A:p.D611N,MUC4:NM_018406:exon15:c.G14539A:p.D4847N,MUC4:NM_001322468:exon32:c.G12379A:p.D4127N",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.019,"D",1,"D",1,"D",0,"D",0.997,"D",3.34,"M",-0.86,"T",-4.21,"D",0.401,5.504,26.3,0.997,0.969,"D",0.574,"D",0.67,"D",0.598,0,4.76,0.853,0.888,0.854,0.964,17.2,"FamilyBased","chinese","ASD","Targeted",".","."]
[23175,28831199,1,47304963,47304963,"A","T","DeNovo",".",".","1p33","exonic","STIL",6491,".","nonsynonymous SNV","STIL:NM_001048166:exon3:c.T78A:p.F26L,STIL:NM_003035:exon3:c.T78A:p.F26L,STIL:NM_001282936:exon4:c.T78A:p.F26L,STIL:NM_001282937:exon4:c.T78A:p.F26L,STIL:NM_001282938:exon4:c.T78A:p.F26L,STIL:NM_001282939:exon4:c.T78A:p.F26L","Microcephaly 7, primary, autosomal recessive, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.056,"T",1,"D",0.998,"D",0,"D",1,"D",2.085,"M",0.58,"T",-4.25,"D",0.826,6.125,28.3,0.999,0.903,"D",-0.172,"T",0.415,"T",0.707,0,5.59,1.062,1.14,0.999,1,7.968,"FamilyBased","chinese","ASD","Targeted",".","."]
[23203,28831199,"X",153804591,153804591,"G","A","DeNovo",".",".","Xq28","exonic","PDZD4",57595,".","nonsynonymous SNV","PDZD4:NM_001303514:exon6:c.C745T:p.R249C,PDZD4:NM_001303512:exon8:c.C1090T:p.R364C,PDZD4:NM_001303515:exon8:c.C847T:p.R283C,PDZD4:NM_001303516:exon8:c.C829T:p.R277C,PDZD4:NM_032512:exon8:c.C1072T:p.R358C,PDZD4:NM_001303513:exon9:c.C784T:p.R262C",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",0.962,"D",0,"D",1,"D",1.905,"M",3.47,"T",-5.68,"D",0.532,5.561,26.4,0.999,0.857,"D",-1.152,"T",0.065,"T",".",".",5.15,0.917,0.949,0.996,0.719,16.428,"FamilyBased","chinese","ASD","Targeted",".","."]
[23231,28831199,12,52241523,52241523,"A","G","DeNovo",".",".","12q13.13","exonic","KRT7",3855,".","nonsynonymous SNV","KRT7:NM_005556:exon5:c.A745G:p.M249V",".",".","rs758892036",{"v":1.65e-05,"d":"1.65E-05"},0,0,0,0,{"v":1.5E-5,"d":"1.50E-05"},0,{"v":6.1e-05,"d":"6.10E-05"},".",".",".",".",".",".",0,"D",0.996,"D",0.956,"D",0,"D",1,"D",2.01,"M",-2.32,"D",-3.69,"D",0.303,5.126,25.4,0.987,0.929,"D",0.491,"D",0.722,"D",0.758,0,3.73,1.062,1.199,1,1,10.773,"FamilyBased","chinese","ASD","Targeted",".","."]
[24023,22914163,11,58527693,58527693,"A","C","DeNovo",".",".","11q12.1","exonic","LPXN",9404,".","nonsynonymous SNV","LPXN:NM_001307951:exon8:c.T862G:p.F288V,LPXN:NM_001143995:exon9:c.T937G:p.F313V,LPXN:NM_004811:exon9:c.T922G:p.F308V",".",".","rs777109035",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",0.998,"D",0,"D",1,"D",3.595,"H",-2.39,"D",-6.73,"D",0.938,6.025,27.9,0.992,0.966,"D",0.978,"D",0.872,"D",0.722,0,6.03,1.062,1.199,1,0.996,15.555,"FamilyBased&CaseControl","icelandic","ASD","WGS",".","."]
[24561,22914163,14,20955986,20955986,"T","C","DeNovo",".",".","14q11.2","exonic","RNASE2",6036,".","nonsynonymous SNV","RNASE2:NM_002934:exon2:c.T215C:p.L72P",".",".","rs775991060",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.005,"D",0.155,"B",0.205,"B",0.011,"U",1,"N",1.1,"L",2.48,"T",0.49,"N",0.425,0.715,8.922,0.756,0.009,"N",-1.02,"T",0.028,"T",0.497,0,1.56,-0.365,-0.712,0.114,0.158,5.143,"FamilyBased&CaseControl","icelandic","ASD","WGS",".","."]
[25295,22914163,19,3907769,3907769,"G","A","DeNovo",".",".","19p13.3","exonic","ATCAY",85300,".","nonsynonymous SNV","ATCAY:NM_033064:exon5:c.G394A:p.G132R","Ataxia, cerebellar, Cayman type, Autosomal recessive",".","rs200734663",{"v":1.66E-5,"d":"1.66E-05"},0,0,0,0,{"v":3.02e-05,"d":"3.02E-05"},0,0,".",".",".",".",".",".",0.133,"T",0.995,"D",0.815,"P",1E-3,"N",0.955,"D",0.6,"N",1.27,"T",-3.62,"D",0.242,5.253,25.6,0.999,0.934,"D",-1.046,"T",0.106,"T",0.707,0,5.27,0.917,1.034,0.992,0.976,17.913,"FamilyBased&CaseControl","icelandic","ASD","WGS",".","."]
[27193,22914163,6,37461625,37461625,"C","T","DeNovo",".",".","6p21.2","exonic","CMTR1",23070,".","nonsynonymous SNV","CMTR1:NM_015050:exon11:c.C1172T:p.A391V",".",".","rs759199278",{"v":1.69e-05,"d":"1.69E-05"},0,0,0,0,{"v":1.52E-5,"d":"1.52E-05"},0,{"v":6.8e-05,"d":"6.80E-05"},".",".",".",".",".",".",0.003,"D",0.999,"D",0.957,"D",0,"D",1,"D",3.255,"M",1.24,"T",-3.83,"D",0.795,7.391,34,0.999,0.977,"D",-0.554,"T",0.229,"T",0.707,0,4.87,-0.064,0.892,0.962,0.997,15.107,"FamilyBased&CaseControl","icelandic","ASD","WGS",".","."]
[27276,22914163,6,90008691,90008691,"G","A","DeNovo",".",".","6q15","exonic","BACH2",60468,".","nonsynonymous SNV","BACH2:NM_001170794:exon4:c.C154T:p.R52W,BACH2:NM_021813:exon6:c.C154T:p.R52W",".",".","rs747200186",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1E-3,"D",1,"D",1,"D",0,"D",1,"D",3.67,"H",1.51,"T",-6.02,"D",0.956,7.433,34,0.999,0.881,"D",-0.272,"T",0.266,"T",0.615,0,5.33,0.917,0.998,1,1,19.023,"FamilyBased&CaseControl","icelandic","ASD","WGS",".","."]
[30083,28263302,1,223545297,223545297,"G","C","DeNovo",".",".","1q41","exonic","CAPN8",388743,".","nonsynonymous SNV","CAPN8:NM_001143962:exon17:c.C1767G:p.S589R",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.217,"T",0.421,"B",0.238,"B",0.103,"N",1,"N",0.48,"N",-1.02,"T",-1.96,"N",0.304,3.389,23,0.975,0.279,"N",-0.252,"T",0.607,"D",0.578,0,3.2,-0.31,0.146,2E-3,0.01,4.967,"FamilyBased",".","ASD","WGS",".","."]
[32619,28263302,1,52633587,52633587,"T","C","DeNovo",".",".","1p32.3","exonic","FAM159A",348378,".","nonsynonymous SNV","FAM159A:NM_001042693:exon1:c.T94C:p.F32L",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.011,"D",0.939,"P",0.608,"P",0.012,"U",0.788,"D",-0.345,"N",".",".",-4.27,"D",0.696,3.404,23,0.996,0.952,"D",-0.923,"T",0.065,"T",0.564,0,2.78,0.991,0.888,1,0.998,10.215,"FamilyBased",".","ASD","WGS",".","."]
[34500,28263302,19,49054508,49054508,"G","A","DeNovo",".",".","19q13.33","exonic","CGB7",94027,".","nonsynonymous SNV","CGB7:NM_033142:exon3:c.G281T:p.R94L",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.019,"D",0.992,"D",0.785,"P",0,"D",0.999,"N",".",".",-2.75,"D",-1.14,"N",0.394,2.159,17.24,0.98,0.365,"N",0.086,"D",0.73,"D",0.516,0,0.742,0.009,-0.135,0.939,0.003,9.454,"FamilyBased",".","ASD","WGS",".","."]
[37034,28263302,18,49483736,49483736,"G","T","DeNovo",".",".","18q21.1","exonic","C18orf32;RPL17-C18orf32","497661;100526842",".","nonsynonymous SNV","C18orf32:NM_001035005:exon2:c.C13A:p.P5T,C18orf32:NM_001199346:exon2:c.C13A:p.P5T,RPL17-C18orf32:NM_001199355:exon6:c.C543A:p.F181L,RPL17-C18orf32:NM_001199356:exon6:c.C429A:p.F143L",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.005,"D",1,"D",1,"D",0,"U",1,"D",".",".",-0.12,"T",-7.2,"D",0.978,5.729,26.9,0.998,0.986,"D",-0.003,"T",0.481,"T",0.707,0,5.5,0.917,0.976,1,0.999,19.39,"FamilyBased",".","ASD","WGS",".","."]
[37998,28263302,"X",65731977,65731977,"C","T","DeNovo",".",".","Xq12","exonic","MSN",4478,".","nonsynonymous SNV","MSN:NM_002444:exon6:c.A691T:p.N231Y","Immunodeficiency 50, X-linked recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1E-3,"D",0.642,"P",0.626,"P",0,"D",1,"D",2.28,"M",-2.4,"D",-3.87,"D",0.609,5.407,26,0.992,0.969,"D",0.623,"D",0.756,"D",".",".",6.02,1.062,1.199,1,0.999,14.175,"FamilyBased",".","ASD","WGS",".","."]
[40176,28263302,2,23884794,23884794,"A","G","DeNovo",".",".","2p23.3","exonic","ATAD2B",54454,".","nonsynonymous SNV","ATAD2B:NM_001242338:exon6:c.A755C:p.H252P,ATAD2B:NM_017552:exon6:c.A755C:p.H252P",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.07,"T",1,"D",0.982,"D",".",".",1,"D",1.61,"L",0.86,"T",-2.75,"D",0.831,4.473,24.2,0.981,0.975,"D",0.621,"D",0.802,"D",0.651,0,4.14,0.899,1.011,0.998,1,13.507,"FamilyBased",".","ASD","WGS",".","."]
[42391,28263302,7,150958203,150958203,"T","C","DeNovo",".",".","7q36.1","exonic","KCNH2",3757,".","nonsynonymous SNV","KCNH2:NM_000238:exon4:c.C772G:p.P258A,KCNH2:NM_172056:exon4:c.C772G:p.P258A","Long QT syndrome 2, Autosomal dominant;Short QT syndrome 1",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.031,"D",0.149,"B",0.085,"B",0.038,"U",0.983,"D",1.32,"L",-4.76,"D",-1.55,"N",0.657,0.872,9.898,0.966,0.968,"D",0.878,"D",0.872,"D",0.635,0,3.56,0.897,0.972,0.989,0.738,13.043,"FamilyBased",".","ASD","WGS",".","."]
[43958,28263302,2,178784090,178784090,"T","C","DeNovo",".",".","2q31.2","exonic","TTN",7273,".","nonsynonymous SNV","TTN:NM_003319:exon15:c.C2617G:p.L873V,TTN:NM_133432:exon15:c.C2617G:p.L873V,TTN:NM_133437:exon15:c.C2617G:p.L873V,TTN:NM_001256850:exon16:c.C2755G:p.L919V,TTN:NM_001267550:exon16:c.C2755G:p.L919V,TTN:NM_133378:exon16:c.C2755G:p.L919V,TTN:NM_133379:exon16:c.C2755G:p.L919V","Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.183,"T",0.328,"B",0.079,"B",".",".",1,"N",0.805,"L",0.39,"T",-1.5,"N",0.21,-0.348,0.515,0.663,0.309,"N",-0.928,"T",0.144,"T",0.516,0,3.57,0.917,1.048,0.041,0.044,9.737,"FamilyBased",".","ASD","WGS",".","."]
[47861,28263302,4,105243577,105243577,"C","T","DeNovo",".",".","4q24","exonic","TET2",54790,".","nonsynonymous SNV","TET2:NM_001127208:exon6:c.G3602T:p.R1201L","Myelodysplastic syndrome, somatic",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",0.999,"D",".",".",1,"D",2.865,"M",1,"T",-6.72,"D",0.988,7.129,34,0.999,0.996,"D",-0.307,"T",0.335,"T",0.672,0,5.64,0.917,1.048,0.165,0.41,19.715,"FamilyBased",".","ASD","WGS",".","."]
[50058,28263302,5,67054451,67054451,"T","G","DeNovo",".",".","5q12.3","exonic","MAST4",375449,".","nonsynonymous SNV","MAST4:NM_001290226:exon2:c.C95G:p.P32R,MAST4:NM_001297651:exon2:c.C140G:p.P47R,MAST4:NM_001290227:exon3:c.C140G:p.P47R,MAST4:NM_015183:exon4:c.C155G:p.P52R,MAST4:NM_001164664:exon5:c.C722G:p.P241R",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.021,"D",1,"D",0.991,"D",0.115,"U",0.691,"D",2.165,"M",1.34,"T",-7.41,"D",0.575,5.904,27.5,0.997,0.978,"D",0.279,"D",0.551,"D",0.707,0,5.77,0.871,0.935,0.999,0.998,19.989,"FamilyBased",".","ASD","WGS",".","."]
[51681,28263302,4,9249960,9249960,"C","G","DeNovo",".",".","4p16.1","exonic","USP17L11;USP17L18","100287178;100287364",".","nonsynonymous SNV","USP17L11:NM_001256854:exon1:c.A1331G:p.N444S,USP17L18:NM_001256859:exon1:c.A1331G:p.N444S",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.22,"T",0.515,"P",0.194,"B",".",".",1,"N",0.935,"L",1.08,"T",-0.86,"N",0.062,-0.612,0.117,0.538,0.016,"N",-1.043,"T",0.063,"T",0.638,0,0.37,0.642,0.323,0.892,0.016,".","FamilyBased",".","ASD","WGS",".","."]
[54221,28263302,1,203733310,203733310,"G","T","DeNovo",".",".","1q32.1","exonic","ATP2B4",493,".","nonsynonymous SNV","ATP2B4:NM_001001396:exon21:c.C3397T:p.L1133F",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.724,"T",0.175,"B",0.067,"B",0.827,"N",1,"D",0.69,"N",-1.03,"T",-0.69,"N",0.166,1.979,16.08,0.867,0.862,"D",-0.915,"T",0.232,"T",0.566,0,2.86,0.033,0.044,0.82,0.998,7.868,"FamilyBased",".","ASD","WGS",".","."]
[57429,28263302,6,109506781,109506781,"C","T","DeNovo",".",".","6q21","exonic","AK9",221264,".","nonsynonymous SNV","AK9:NM_001145128:exon34:c.C4501A:p.P1501T",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",1,"D",".",".",1,"D",2.135,"M",-2.62,"D",-6.86,"D",0.896,5.376,25.9,0.997,0.996,"D",0.674,"D",0.814,"D",0.624,0,5.23,0.917,1.048,0.963,0.823,18.822,"FamilyBased",".","ASD","WGS",".","."]
[59560,28263302,1,54665235,54665235,"G","T","DeNovo",".",".","1p32.3","exonic","MROH7",374977,".","nonsynonymous SNV","MROH7:NM_001039464:exon4:c.G1300T:p.A434S",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.103,"T",0.869,"P",0.375,"B",0.914,"N",1,"N",1.04,"L",3.63,"T",-0.18,"N",0.331,1.999,16.21,0.752,0.148,"N",-0.936,"T",0.013,"T",0.554,0,1.17,0.63,0.953,0.058,0.107,4.952,"FamilyBased",".","ASD","WGS",".","."]
[61679,28263302,5,154380560,154380560,"G","A","DeNovo",".",".","5q33.2","exonic","GALNT10",55568,".","nonsynonymous SNV","GALNT10:NM_198321:exon6:c.C867A:p.D289E",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.094,"T",1,"D",1,"D",0,"D",1,"D",2.68,"M",0.23,"T",-3.82,"D",0.867,6.33,29.3,0.998,0.894,"D",-0.332,"T",0.378,"T",0.707,0,3.83,0.871,0.935,1,1,10.094,"FamilyBased",".","ASD","WGS",".","."]
[63450,28263302,12,62934612,62934612,"G","A","DeNovo",".",".","12q14.2","exonic","PPM1H",57460,".","nonsynonymous SNV","PPM1H:NM_020700:exon1:c.G125T:p.G42V",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.087,"T",0.164,"B",0.081,"B",0.245,"N",1,"D",1.32,"L",0.98,"T",-1.29,"N",0.271,3.118,22.6,0.976,0.748,"D",-1.065,"T",0.088,"T",0.726,0,3.91,0.871,0.852,1,0.997,10.797,"FamilyBased",".","ASD","WGS",".","."]
[66480,28263302,11,75287369,75287369,"C","G","DeNovo",".",".","11q13.4","exonic","ARRB1",408,".","nonsynonymous SNV","ARRB1:NM_004041:exon3:c.G58C:p.V20L,ARRB1:NM_020251:exon3:c.G58C:p.V20L",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.349,"T",0.726,"P",0.496,"P",0,"D",1,"D",1.065,"L",2.33,"T",-1.58,"N",0.783,5.339,25.8,0.991,0.97,"D",-1.124,"T",0.047,"T",0.706,0,4.95,0.871,0.807,0.993,0.998,16.03,"FamilyBased",".","ASD","WGS",".","."]
[68024,28263302,14,49622190,49622190,"G","A","DeNovo",".",".","14q21.3","exonic","MGAT2",4247,".","nonsynonymous SNV","MGAT2:NM_002408:exon1:c.G922A:p.D308N","Congenital disorder of glycosylation, type IIa, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.046,"D",0.121,"B",0.196,"B",1E-3,"N",1,"D",0.69,"N",-2.42,"D",-2.27,"N",0.091,5.968,27.7,0.998,0.982,"D",-0.168,"T",0.576,"D",0.767,0,6,0.917,1.048,1,0.997,20.17,"FamilyBased",".","ASD","WGS",".","."]
[70063,28263302,14,81278240,81278240,"G","T","DeNovo",".",".","14q31.1","exonic","STON2",85439,".","nonsynonymous SNV","STON2:NM_033104:exon5:c.T1071A:p.D357E,STON2:NM_001256430:exon6:c.T1071A:p.D357E",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.14,"T",0.607,"P",0.146,"B",1E-3,"D",0.924,"N",1.445,"L",2.55,"T",-0.81,"N",0.426,1.206,11.78,0.984,0.69,"D",-1.065,"T",0.026,"T",0.563,0,0.872,1.062,1.199,1,1,10.713,"FamilyBased",".","ASD","WGS",".","."]
[71923,28263302,4,48149574,48149574,"G","A","DeNovo",".",".","4p12","exonic","TEC",7006,".","nonsynonymous SNV","TEC:NM_003215:exon11:c.A989T:p.H330L",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1E-3,"D",1,"D",0.999,"D",0,"D",1,"D",2.85,"M",-2.51,"D",-10.8,"D",0.713,6.072,28.1,0.974,0.988,"D",0.884,"D",0.843,"D",0.732,0,5.8,0.991,1.061,1,0.994,16.161,"FamilyBased",".","ASD","WGS",".","."]
[74563,28263302,5,157463217,157463217,"C","G","DeNovo",".",".","5q33.3","exonic","NIPAL4",348938,".","nonsynonymous SNV","NIPAL4:NM_001099287:exon2:c.A347G:p.Y116C,NIPAL4:NM_001172292:exon2:c.A347G:p.Y116C","Ichthyosis, congenital, autosomal recessive 6, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.006,"D",1,"D",0.988,"D",0,"D",1,"D",2.56,"M",-2.62,"D",-5.1,"D",0.928,4.839,24.8,0.841,0.935,"D",0.855,"D",0.842,"D",0.516,0,5.21,1.062,1.199,0.993,0.934,15.075,"FamilyBased",".","ASD","WGS",".","."]
[75410,28263302,11,3228136,3228136,"A","G","DeNovo",".",".","11p15.4","exonic","MRGPRE",116534,".","nonsynonymous SNV","MRGPRE:NM_001039165:exon2:c.A664C:p.T222P",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.987,"D",0.878,"P",0.479,"U",1,"N",2.605,"M",1.16,"T",".",".",0.295,-0.353,0.501,0.706,0.051,"N",-0.945,"T",0.157,"T",0.487,0,-6.76,-1.524,-1.253,1E-3,0.005,0.966,"FamilyBased",".","ASD","WGS",".","."]
[77183,28263302,11,7043446,7043446,"T","C","DeNovo",".",".","11p15.4","exonic","NLRP14",338323,".","nonsynonymous SNV","NLRP14:NM_176822:exon4:c.A1420C:p.N474H",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.062,"T",0.995,"D",0.887,"P",0.015,"N",0.55,"N",1.665,"L",-2.48,"D",-2.16,"N",0.152,3.833,23.4,0.995,0.753,"D",0.329,"D",0.686,"D",0.554,0,3.29,1.062,1.199,0.989,1,6.578,"FamilyBased",".","ASD","WGS",".","."]
[78256,28263302,21,32631578,32631578,"C","T","DeNovo",".",".","21q22.11","exonic","SYNJ1",8867,".","nonsynonymous SNV","SYNJ1:NM_001160306:exon28:c.C3998A:p.P1333Q,SYNJ1:NM_003895:exon32:c.C4256A:p.P1419Q","Epileptic encephalopathy, early infantile, 53;Parkinson disease 20, early-onset, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.026,"D",0.944,"P",0.642,"P",0,"D",1,"D",1.905,"M",-2.93,"D",-1.99,"N",0.241,5.946,27.6,0.992,0.991,"D",0.787,"D",0.821,"D",0.563,0,5.28,0.917,1.048,0.184,0.979,19.266,"FamilyBased",".","ASD","WGS",".","."]
[80177,28263302,2,39755342,39755342,"T","C","DeNovo",".",".","2p22.1","exonic","THUMPD2",80745,".","nonsynonymous SNV","THUMPD2:NM_001321479:exon7:c.C329G:p.A110G,THUMPD2:NM_001321468:exon8:c.C1031G:p.A344G,THUMPD2:NM_001321469:exon8:c.C752G:p.A251G,THUMPD2:NM_001321470:exon8:c.C704G:p.A235G,THUMPD2:NM_001321475:exon8:c.C752G:p.A251G,THUMPD2:NM_025264:exon8:c.C1031G:p.A344G,THUMPD2:NM_001321477:exon9:c.C329G:p.A110G,THUMPD2:NM_001321478:exon9:c.C329G:p.A110G,THUMPD2:NM_001321480:exon9:c.C329G:p.A110G,THUMPD2:NM_001321481:exon9:c.C329G:p.A110G",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.26,"T",0.074,"B",0.09,"B",0.007,"N",0.914,"D",1.52,"L",1.49,"T",-1.36,"N",0.298,2.899,21.8,0.991,0.907,"D",-1.095,"T",0.066,"T",0.732,0,4.53,0.917,0.953,0.978,0.999,10.589,"FamilyBased",".","ASD","WGS",".","."]
[84345,28263302,2,237368872,237368872,"C","T","DeNovo",".",".","2q37.3","exonic","COL6A3",1293,".","nonsynonymous SNV","COL6A3:NM_057166:exon7:c.T2770A:p.S924T,COL6A3:NM_057167:exon9:c.T3973A:p.S1325T,COL6A3:NM_004369:exon10:c.T4591A:p.S1531T","Bethlem myopathy 1, Autosomal recessive, Autosomal dominant;Dystonia 27, Autosomal recessive;Ullrich congenital muscular dystrophy 1, Autosomal recessive, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.18,"T",0.998,"D",0.971,"D",0,"D",0.998,"D",2.055,"M",-1.75,"D",-0.65,"N",0.517,2.621,20.3,0.982,0.929,"D",0.265,"D",0.648,"D",0.638,0,4.18,1.062,1.199,0.996,0.876,11.314,"FamilyBased",".","ASD","WGS",".","."]
[86269,28263302,19,36878006,36878006,"G","A","DeNovo",".",".","19q13.12","exonic","ZNF345",25850,".","nonsynonymous SNV","ZNF345:NM_001242472:exon3:c.T1176A:p.H392Q,ZNF345:NM_001242475:exon3:c.T1176A:p.H392Q,ZNF345:NM_003419:exon3:c.T1176A:p.H392Q,ZNF345:NM_001242474:exon4:c.T1176A:p.H392Q,ZNF345:NM_001242476:exon4:c.T1176A:p.H392Q",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",0.998,"D",".",".",1,"D",2.79,"M",-0.24,"T",-7.59,"D",0.753,4.363,24.1,0.991,0.228,"N",-0.591,"T",0.455,"T",0.651,0,1.69,0.755,0.715,0.554,0.702,5.92,"FamilyBased",".","ASD","WGS",".","."]
[88193,28263302,7,78194933,78194933,"T","A","DeNovo",".",".","7q21.11","exonic","MAGI2",9863,".","nonsynonymous SNV","MAGI2:NM_001301128:exon12:c.C2210T:p.P737L,MAGI2:NM_012301:exon12:c.C2210T:p.P737L",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.332,"T",0.012,"B",0.007,"B",0.003,"U",1,"D",0.345,"N",3.06,"T",-0.58,"N",0.258,3.198,22.7,0.986,0.908,"D",-1.001,"T",0.023,"T",0.638,0,5.82,0.917,0.998,0.998,0.998,20.091,"FamilyBased",".","ASD","WGS",".","."]
[89341,28263302,9,104617693,104617693,"C","A","DeNovo",".",".","9q31.1","exonic","OR13C9",286362,".","nonsynonymous SNV","OR13C9:NM_001001956:exon1:c.A512T:p.K171M",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",2E-3,"D",0.277,"B",0.489,"P",0,"U",1,"N",1.1,"L",1.2,"T",-1.65,"N",0.251,1.053,10.96,0.99,0.106,"N",-0.948,"T",0.105,"T",0.487,0,3.35,0.991,1.051,0.992,0.053,8.78,"FamilyBased",".","ASD","WGS",".","."]
[90071,28263302,18,34863975,34863975,"A","C","DeNovo",".",".","18q12.1","exonic","DTNA",1837,".","nonsynonymous SNV","DTNA:NM_001198943:exon7:c.A645C:p.K215N,DTNA:NM_032981:exon7:c.A441C:p.K147N,DTNA:NM_001198944:exon8:c.A531C:p.K177N,DTNA:NM_032980:exon8:c.A519C:p.K173N,DTNA:NM_001198942:exon10:c.A702C:p.K234N,DTNA:NM_001198945:exon10:c.A825C:p.K275N,DTNA:NM_001198941:exon14:c.A1395C:p.K465N,DTNA:NM_001198938:exon15:c.A1395C:p.K465N,DTNA:NM_001198939:exon15:c.A1395C:p.K465N,DTNA:NM_001198940:exon15:c.A1395C:p.K465N,DTNA:NM_001390:exon16:c.A1575C:p.K525N,DTNA:NM_001391:exon16:c.A1575C:p.K525N,DTNA:NM_032975:exon16:c.A1404C:p.K468N,DTNA:NM_032978:exon16:c.A1566C:p.K522N,DTNA:NM_032979:exon16:c.A1404C:p.K468N","Left ventricular noncompaction 1, with or without congenital heart defects, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",0.999,"D",0,"D",1,"D",2.36,"M",1.09,"T",-4.54,"D",0.457,5.309,25.8,0.998,0.888,"D",-0.375,"T",0.388,"T",0.638,0,1.97,-0.056,0.149,0.998,1,9.245,"FamilyBased",".","ASD","WGS",".","."]
[91425,28263302,3,179333419,179333419,"A","G","DeNovo",".",".","3q26.33","exonic","ZNF639",51193,".","nonsynonymous SNV","ZNF639:NM_001303426:exon6:c.A455G:p.D152G,ZNF639:NM_001303425:exon7:c.A455G:p.D152G,ZNF639:NM_016331:exon7:c.A455G:p.D152G",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.269,"T",0.993,"D",0.984,"D",0,"D",0.989,"D",0.975,"L",4.37,"T",-0.82,"N",0.806,4.123,23.8,0.998,0.931,"D",-1.047,"T",0.031,"T",0.707,0,5.87,1.062,1.199,0.991,0.993,15.147,"FamilyBased",".","ASD","WGS",".","."]
[95676,28263302,11,45649867,45649867,"C","T","DeNovo",".",".","11p11.2","exonic","CHST1",8534,".","nonsynonymous SNV","CHST1:NM_003654:exon4:c.T1057A:p.S353T",".",".","rs781548256",{"v":8.29e-06,"d":"8.29E-06"},0,{"v":8.66e-05,"d":"8.66E-05"},0,0,0,0,0,".",".",".",".",".",".",0.004,"D",0.996,"D",0.936,"D",0,"D",1,"D",2.98,"M",-1.71,"D",-2,"N",0.548,3.954,23.6,0.992,0.972,"D",0.637,"D",0.73,"D",0.615,0,4.68,1.062,1.14,0.999,0.78,14.141,"FamilyBased",".","ASD","WGS",".","."]
[96753,28263302,17,3751816,3751816,"A","G","DeNovo",".",".","17p13.2","exonic","ITGAE",3682,".","nonsynonymous SNV","ITGAE:NM_002208:exon15:c.G1727C:p.R576P",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",0.995,"D",".",".",0.885,"D",3.89,"H",1.72,"T",-6.1,"D",0.899,6.744,32,0.997,0.968,"D",-0.117,"T",0.253,"T",0.554,0,3.89,0.871,0.935,0.781,0.892,13.809,"FamilyBased",".","ASD","WGS",".","."]
[98301,28263302,2,189728743,189728743,"G","A","DeNovo",".",".","2q32.2","exonic","ANKAR",150709,".","nonsynonymous SNV","ANKAR:NM_144708:exon15:c.G3115A:p.V1039I",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.199,"T",0.034,"B",0.046,"B",0.101,"N",1,"D",1.91,"M",0.71,"T",-0.67,"N",0.06,1.178,11.63,0.907,0.766,"D",-1.058,"T",0.11,"T",0.554,0,1.18,-0.43,0.006,0.982,0.851,6.34,"FamilyBased",".","ASD","WGS",".","."]
[99590,28263302,19,8605347,8605347,"A","G","DeNovo",".",".","19p13.2","exonic","ADAMTS10",81794,".","nonsynonymous SNV","ADAMTS10:NM_030957:exon4:c.T100C:p.S34P","Weill-Marchesani syndrome 1, recessive, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.107,"T",0.997,"D",0.944,"D",0,"D",1,"D",1.04,"L",0.18,"T",-2.37,"N",0.889,5.028,25.2,0.999,0.991,"D",-0.681,"T",0.257,"T",0.696,0,5.38,1.062,1.126,1,1,14.571,"FamilyBased",".","ASD","WGS",".","."]
[101579,28263302,9,137149045,137149045,"T","C","DeNovo",".",".","9q34.3","exonic","GRIN1",2902,".","nonsynonymous SNV","GRIN1:NM_000832:exon4:c.A607C:p.N203H,GRIN1:NM_007327:exon4:c.A607C:p.N203H,GRIN1:NM_021569:exon4:c.A607C:p.N203H,GRIN1:NM_001185090:exon5:c.A670C:p.N224H,GRIN1:NM_001185091:exon5:c.A670C:p.N224H","Mental retardation, autosomal dominant 8",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.039,"D",0.998,"D",0.975,"D",0,"U",1,"D",1.935,"M",1.91,"T",-2.4,"N",0.503,2.419,18.95,0.991,0.986,"D",0.305,"D",0.635,"D",0.581,0,3.81,1.062,1.073,1,1,11.536,"FamilyBased",".","ASD","WGS",".","."]
[102921,28263302,6,26392624,26392624,"A","C","DeNovo",".",".","6p22.2","exonic","BTN2A2",10385,".","nonsynonymous SNV","BTN2A2:NM_001197239:exon6:c.T599C:p.L200P,BTN2A2:NM_181531:exon7:c.T881C:p.L294P,BTN2A2:NM_001197237:exon8:c.T1229C:p.L410P,BTN2A2:NM_006995:exon8:c.T1229C:p.L410P",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.217,"T",0.956,"P",0.486,"P",2E-3,"N",1,"N",0.24,"N",-0.37,"T",-0.21,"N",0.456,0.242,5.116,0.936,0.02,"N",-1.076,"T",0.064,"T",0.722,0,2.57,0.991,0.89,0.994,0.452,3.612,"FamilyBased",".","ASD","WGS",".","."]
[105299,28263302,7,67017893,67017893,"G","T","DeNovo",".",".","7q11.21","exonic","TYW1",55253,".","nonsynonymous SNV","TYW1:NM_018264:exon6:c.C611T:p.A204V",".",".","rs147693115",{"v":1.65e-05,"d":"1.65E-05"},0,0,0,0,{"v":1.5E-5,"d":"1.50E-05"},0,{"v":6.06e-05,"d":"6.06E-05"},".",".",".",".",".",".",0.043,"D",0.403,"B",0.141,"B",0,"U",1,"D",3.655,"H",-0.29,"T",-3.48,"D",0.679,3.564,23.1,0.995,0.896,"D",-0.332,"T",0.291,"T",0.707,0,3.09,0.666,0.634,0.156,0.41,11.253,"FamilyBased",".","ASD","WGS",".","."]
[107772,28263302,1,245646255,245646255,"C","T","DeNovo",".",".","1q44","exonic","KIF26B",55083,".","nonsynonymous SNV","KIF26B:NM_018012:exon10:c.A2233T:p.N745Y",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",1,"D",".",".",1,"D",2.545,"M",-0.94,"T",-6.62,"D",0.578,4.497,24.3,0.99,0.949,"D",0.317,"D",0.604,"D",0.487,0,5.8,1.062,1.194,0.998,0.994,16.143,"FamilyBased",".","ASD","WGS",".","."]
[107931,28263302,16,70680049,70680049,"G","A","DeNovo",".",".","16q22.1","exonic","MTSS1L",92154,".","nonsynonymous SNV","MTSS1L:NM_138383:exon4:c.C212T:p.T71M",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",1,"D",0,"D",1,"D",2.67,"M",0.94,"T",-5.12,"D",0.916,6.289,29.1,0.999,0.917,"D",-0.388,"T",0.285,"T",0.632,0,3.9,0.897,1.035,0.995,0.993,15.233,"FamilyBased",".","ASD","WGS",".","."]
[111050,28263302,12,101290239,101290239,"T","C","DeNovo",".",".","12q23.2","exonic","UTP20",27340,".","nonsynonymous SNV","UTP20:NM_014503:exon7:c.G700C:p.G234R",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",0.998,"D",0,"D",1,"D",2.175,"M",-0.09,"T",-6.65,"D",0.93,6.371,29.5,0.999,0.994,"D",-0.119,"T",0.457,"T",0.563,0,5.8,0.917,0.998,1,1,20.072,"FamilyBased",".","ASD","WGS",".","."]
[113315,28263302,2,218871775,218871775,"A","G","DeNovo",".",".","2q35","exonic","WNT6",7475,".","nonsynonymous SNV","WNT6:NM_006522:exon3:c.A592G:p.I198V",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.078,"T",0.606,"P",0.28,"B",0,"D",1,"D",1.55,"L",-0.95,"T",-0.55,"N",0.236,4.059,23.7,0.997,0.986,"D",-0.5,"T",0.314,"T",0.598,0,4.88,1.058,1.026,0.996,0.998,13.672,"FamilyBased",".","ASD","WGS",".","."]
[114372,28263302,11,47785018,47785018,"A","G","DeNovo",".",".","11p11.2","exonic","NUP160",23279,".","nonsynonymous SNV","NUP160:NM_015231:exon33:c.G3894C:p.R1298S",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.02,"D",0,"B",2E-3,"B",0.068,"N",0.999,"N",1.245,"L",1.37,"T",-1.62,"N",0.177,2.271,17.98,0.979,0.166,"N",-1.077,"T",0.078,"T",0.707,0,-0.354,-0.379,-0.356,0.981,0.995,3.338,"FamilyBased",".","ASD","WGS",".","."]
[117108,28263302,9,35685656,35685656,"T","A","DeNovo",".",".","9p13.3","exonic","TPM2",7169,".","nonsynonymous SNV","TPM2:NM_001301226:exon3:c.A365T:p.E122V,TPM2:NM_001301227:exon3:c.A365T:p.E122V,TPM2:NM_003289:exon3:c.A365T:p.E122V,TPM2:NM_213674:exon3:c.A365T:p.E122V","Arthrogryposis multiplex congenita, distal, type 1, Autosomal dominant;Arthrogryposis, distal, type 2B, Autosomal dominant;CAP myopathy 2, Autosomal dominant;Nemaline myopathy 4, autosomal dominant, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",0.999,"D",0.997,"D",".",".",1,"D",4.515,"H",-5.09,"D",-6.06,"D",0.961,6.366,29.4,0.991,0.979,"D",1.018,"D",0.984,"D",0.707,0,5.11,0.991,0.96,0.998,0.998,14.73,"FamilyBased",".","ASD","WGS",".","."]
[118947,28263302,8,75558974,75558974,"G","A","DeNovo",".",".","8q21.13","exonic","HNF4G",3174,".","nonsynonymous SNV","HNF4G:NM_004133:exon8:c.C1030A:p.Q344K,HNF4G:NM_001330561:exon10:c.C919A:p.Q307K",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.154,"T",0.954,"P",0.706,"P",0,"D",1,"D",3.1,"M",-3.5,"D",-3.32,"D",0.872,5.685,26.8,0.983,0.986,"D",0.866,"D",0.89,"D",0.554,0,5.52,0.871,0.852,0.998,0.998,19.433,"FamilyBased",".","ASD","WGS",".","."]
[121050,28263302,10,43617003,43617003,"G","A","DeNovo",".",".","10q11.21","exonic","ZNF485",220992,".","nonsynonymous SNV","ZNF485:NM_001318143:exon3:c.T687A:p.H229Q,ZNF485:NM_001318142:exon4:c.T687A:p.H229Q,ZNF485:NM_001318140:exon5:c.T960A:p.H320Q,ZNF485:NM_001318141:exon5:c.T960A:p.H320Q,ZNF485:NM_145312:exon5:c.T960A:p.H320Q",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",1,"D",".",".",0.97,"N",3.65,"H",-0.24,"T",-8,"D",0.498,5.124,25.4,0.948,0.024,"N",-0.524,"T",0.503,"D",0.615,0,-0.299,0.755,0.632,0.974,0.873,2.013,"FamilyBased",".","ASD","WGS",".","."]
[123150,28263302,2,175930118,175930118,"T","C","DeNovo",".",".","2q31.1","exonic","LNPK",80856,".","nonsynonymous SNV","LNPK:NM_001305011:exon11:c.T767G:p.V256G,LNPK:NM_001305010:exon12:c.T1142G:p.V381G,LNPK:NM_001305008:exon13:c.T1334G:p.V445G,LNPK:NM_030650:exon13:c.T1136G:p.V379G,LNPK:NM_001305009:exon14:c.T1229G:p.V410G",".",".","rs138584031",1E-3,8.6E-3,0.0008,0,0,0.0003,0,0.0005,0.00179712,".",".",".",".",".",0.574,"T",1E-3,"B",0.004,"B",0.408,"N",1,"N",0,"N",".",".",-0.8,"N",0.061,-2.027,1E-3,0.531,0.283,"N",-1.036,"T",0.028,"T",0.732,0,-3.75,-1.334,-0.206,0.875,0.812,0.818,"FamilyBased",".","ASD","WGS",".","."]
[125005,28263302,6,12120831,12120831,"C","G","DeNovo",".",".","6p24.1","exonic","HIVEP1",3096,".","nonsynonymous SNV","HIVEP1:NM_002114:exon4:c.A1036G:p.T346A",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.075,"T",0.329,"B",0.053,"B",0.058,"N",0.993,"N",1.95,"M",3,"T",-0.83,"N",0.143,0.656,8.535,0.932,0.834,"D",-0.989,"T",0.01,"T",0.707,0,1.23,1.003,1.088,0.998,0.999,5.851,"FamilyBased",".","ASD","WGS",".","."]
[127725,28263302,17,4742429,4742429,"G","A","DeNovo",".",".","17p13.2","exonic","ZMYND15",84225,".","nonsynonymous SNV","ZMYND15:NM_001136046:exon5:c.G1082A:p.R361K,ZMYND15:NM_001267822:exon5:c.G1082A:p.R361K,ZMYND15:NM_032265:exon5:c.G1082A:p.R361K",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.238,"T",0,"B",1E-3,"B",2E-3,"N",0.971,"N",0,"N",0.94,"T",-0.92,"N",0.158,0.55,7.8,0.939,0.515,"D",-1.052,"T",0.048,"T",0.549,0,1.3,0.917,0.126,0.998,0.99,7.466,"FamilyBased",".","ASD","WGS",".","."]
[133039,28263302,12,27318014,27318014,"A","G","DeNovo",".",".","12p11.23","exonic","STK38L",23012,".","nonsynonymous SNV","STK38L:NM_015000:exon11:c.T1074G:p.I358M",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.014,"D",0.998,"D",0.981,"D",0,"D",1,"D",1.5,"L",-0.49,"T",-2.64,"D",0.743,5.15,25.4,0.995,0.953,"D",-0.25,"T",0.406,"T",0.719,0,3.4,0.991,1.042,1,1,10.52,"FamilyBased",".","ASD","WGS",".","."]
[134511,28263302,16,53825995,53825995,"A","G","DeNovo",".",".","16q12.2","exonic","FTO",79068,".","nonsynonymous SNV","FTO:NM_001080432:exon3:c.C255G:p.I85M","Growth retardation, developmental delay, facial dysmorphism, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.018,"D",0.991,"D",0.926,"D",0,"D",1,"D",1.95,"M",-1.11,"T",-1.16,"N",0.434,3.904,23.5,0.997,0.912,"D",0.025,"D",0.526,"D",0.706,0,4.34,0.871,0.935,0.998,1,9.443,"FamilyBased",".","ASD","WGS",".","."]
[136294,28263302,15,58933427,58933427,"G","A","DeNovo",".",".","15q22.1","exonic","SLTM",79811,".","nonsynonymous SNV","SLTM:NM_001013843:exon1:c.G139T:p.V47L,SLTM:NM_024755:exon1:c.G139T:p.V47L",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.033,"D",0.637,"P",0.198,"B",2E-3,"U",1,"N",2.03,"M",2.02,"T",-1.63,"N",0.326,3.26,22.8,0.962,0.408,"N",-0.926,"T",0.056,"T",0.442,0,3.61,0.853,0.85,0.761,0.478,12.979,"FamilyBased",".","ASD","WGS",".","."]
[136616,28263302,7,596221,596221,"C","G","DeNovo",".",".","7p22.3","exonic","PRKAR1B",5575,".","nonsynonymous SNV","PRKAR1B:NM_001164758:exon7:c.G633C:p.R211S,PRKAR1B:NM_001164759:exon7:c.G633C:p.R211S,PRKAR1B:NM_001164760:exon7:c.G633C:p.R211S,PRKAR1B:NM_001164761:exon7:c.G633C:p.R211S,PRKAR1B:NM_001164762:exon7:c.G633C:p.R211S,PRKAR1B:NM_002735:exon7:c.G633C:p.R211S",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1E-3,"D",1,"D",1,"D",0,"U",1,"D",3.945,"H",-2.32,"D",-5.2,"D",0.991,5.737,26.9,0.997,0.606,"D",0.544,"D",0.822,"D",0.732,0,2.63,0.008,0.077,0.941,0.835,5.846,"FamilyBased",".","ASD","WGS",".","."]
[137790,28263302,6,7355080,7355080,"G","A","DeNovo",".",".","6p24.3","exonic","CAGE1",285782,".","nonsynonymous SNV","CAGE1:NM_205864:exon8:c.C1736T:p.A579V,CAGE1:NM_001170693:exon10:c.C2225T:p.A742V,CAGE1:NM_001170692:exon11:c.C2330T:p.A777V",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.007,"D",1,"D",0.999,"D",0,"D",0.959,"D",1.67,"L",1.19,"T",-1.44,"N",0.668,6.559,31,0.999,0.88,"D",-0.731,"T",0.192,"T",0.497,0,4.9,0.917,1.048,1,0.999,13.461,"FamilyBased",".","ASD","WGS",".","."]
[139286,28263302,6,31632920,31632920,"G","A","DeNovo",".",".","6p21.33","exonic","PRRC2A",7916,".","nonsynonymous SNV","PRRC2A:NM_004638:exon16:c.G4247A:p.G1416D,PRRC2A:NM_080686:exon16:c.G4247A:p.G1416D",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.186,"T",0.848,"P",0.537,"P",0.028,"N",1,"D",0.55,"N",4.56,"T",-0.64,"N",0.499,1.036,10.86,0.544,0.958,"D",-0.611,"T",0.006,"T",0.672,0,5.08,0.917,0.942,0.873,0.009,17.395,"FamilyBased",".","ASD","WGS",".","."]
[140429,28263302,8,143726837,143726837,"G","A","DeNovo",".",".","8q24.3","exonic","FAM83H",286077,".","nonsynonymous SNV","FAM83H:NM_198488:exon5:c.A2624T:p.Y875F","Amelogenesis imperfecta, type III, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.032,"D",1E-3,"B",1E-3,"B",0.648,"N",1,"N",0.975,"L",2.52,"T",-1.12,"N",0.232,0.331,5.994,0.968,0.06,"N",-0.96,"T",0.023,"T",0.66,0,-0.028,0.012,1.056,0.616,0.813,4.203,"FamilyBased",".","ASD","WGS",".","."]
[142115,28263302,10,34331305,34331305,"C","G","DeNovo",".",".","10p11.21","exonic","PARD3",56288,".","nonsynonymous SNV","PARD3:NM_001184791:exon16:c.A2429C:p.K810T,PARD3:NM_001184790:exon17:c.A2384C:p.K795T,PARD3:NM_001184786:exon18:c.A2606C:p.K869T,PARD3:NM_001184788:exon18:c.A2516C:p.K839T,PARD3:NM_001184789:exon18:c.A2516C:p.K839T,PARD3:NM_001184794:exon18:c.A2516C:p.K839T,PARD3:NM_001184785:exon19:c.A2645C:p.K882T,PARD3:NM_001184787:exon19:c.A2654C:p.K885T,PARD3:NM_001184792:exon19:c.A2645C:p.K882T,PARD3:NM_001184793:exon19:c.A2552C:p.K851T,PARD3:NM_019619:exon19:c.A2654C:p.K885T",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",2E-3,"D",1,"D",1,"D",0,"D",1,"D",2.545,"M",1.44,"T",-5.02,"D",0.786,6.487,30,0.998,0.997,"D",-0.631,"T",0.215,"T",0.706,0,5.43,0.991,1.061,0.994,1,15.764,"FamilyBased",".","ASD","WGS",".","."]
[145246,28263302,15,43522717,43522717,"C","T","DeNovo",".",".","15q15.3","exonic","MAP1A",4130,".","nonsynonymous SNV","MAP1A:NM_002373:exon4:c.A1244T:p.K415I",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",0.996,"D",0.003,"N",1,"D",2.015,"M",2.3,"T",-5,"D",0.43,4.896,24.9,0.987,0.995,"D",-1.003,"T",0.114,"T",0.625,0,5.2,1.062,1.199,0.997,0.998,14.911,"FamilyBased",".","ASD","WGS",".","."]
[146264,28263302,3,165055295,165055295,"T","C","DeNovo",".",".","3q26.1","exonic","SI",6476,".","nonsynonymous SNV","SI:NM_001041:exon13:c.T1411G:p.L471V","Sucrase-isomaltase deficiency, congenital, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.61,"T",0,"B",0,"B",0.198,"N",0.987,"N",0.765,"N",-3.09,"D",-0.57,"N",0.212,0.587,8.068,0.947,0.586,"D",-0.637,"T",0.488,"T",0.554,0,-0.35,1.062,1.022,0.999,0.999,6.035,"FamilyBased",".","ASD","WGS",".","."]
[147483,28263302,6,110999723,110999723,"A","G","DeNovo",".",".","6q21","exonic","RPF2",84154,".","nonsynonymous SNV","RPF2:NM_001289111:exon5:c.A140G:p.D47G,RPF2:NM_032194:exon6:c.A329G:p.D110G",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.007,"D",0.999,"D",0.965,"D",0,"D",1,"D",2.135,"M",1.86,"T",-4.97,"D",0.896,3.97,23.6,0.998,0.924,"D",-0.995,"T",0.107,"T",0.657,0,4.98,1.062,1.199,0.994,0.999,13.793,"FamilyBased",".","ASD","WGS",".","."]
[149903,28263302,19,39027001,39027001,"A","G","DeNovo",".",".","19q13.2","exonic","FBXO27",126433,".","nonsynonymous SNV","FBXO27:NM_178820:exon5:c.G577C:p.G193R",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.024,"D",0.108,"B",0.065,"B",0.129,"N",0.93,"N",2.135,"M",1.55,"T",-2.66,"D",0.509,1.382,12.69,0.995,0.248,"N",-1.022,"T",0.067,"T",0.707,0,-0.664,0.871,0.042,0.998,0.972,7.118,"FamilyBased",".","ASD","WGS",".","."]
[153397,28263302,18,706574,706574,"G","A","DeNovo",".",".","18p11.32","exonic","ENOSF1",55556,".","nonsynonymous SNV","ENOSF1:NM_001318759:exon2:c.C89T:p.T30M,ENOSF1:NM_017512:exon2:c.C89T:p.T30M,ENOSF1:NM_202758:exon2:c.C152T:p.T51M",".","ID=COSM1205318;OCCURENCE=1(large_intestine)","rs140842890",{"v":8.24e-05,"d":"8.24E-05"},0.0006,0,0,0,{"v":6e-05,"d":"6.00E-05"},0,0,".",".",".",".",".",".",0.006,"D",0.997,"D",0.88,"P",0,"D",1,"D",2.395,"M",1.04,"T",-2.98,"D",0.622,5.201,25.5,0.889,0.935,"D",-0.535,"T",0.259,"T",0.732,0,5.56,0.868,0.784,0.983,0.672,18.289,"FamilyBased",".","ASD","WGS",".","."]
[155102,28263302,7,101163148,101163148,"C","T","DeNovo",".",".","7q22.1","exonic","VGF",7425,".","nonsynonymous SNV","VGF:NM_003378:exon2:c.T1696A:p.Y566N",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.013,"D",0.144,"B",0.035,"B",0.111,"U",0.878,"N",0,"N",".",".",-2.39,"N",0.356,3.433,23,0.969,0.809,"D",-1.084,"T",0.039,"T",0.789,0,3.22,0.11,1.02,0.985,0.999,3.782,"FamilyBased",".","ASD","WGS",".","."]
[157375,28263302,17,43002874,43002874,"C","T","DeNovo",".",".","17q21.31","exonic","RPL27",6155,".","nonsynonymous SNV","RPL27:NM_001349922:exon4:c.A365T:p.Y122F,RPL27:NM_000988:exon5:c.A365T:p.Y122F,RPL27:NM_001349921:exon5:c.A365T:p.Y122F",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.299,"T",0.1,"B",0.117,"B",0,"D",1,"D",1.825,"L",".",".",-3.02,"D",0.569,2.697,20.8,0.958,0.996,"D",-0.784,"T",0.228,"T",0.722,0,4.99,1.062,1.194,0.994,0.99,15.148,"FamilyBased",".","ASD","WGS",".","."]
[159052,28263302,8,21984743,21984743,"C","T","DeNovo",".",".","8p21.3","exonic","XPO7",23039,".","nonsynonymous SNV","XPO7:NM_015024:exon12:c.G1375T:p.A459S",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.62,"T",0.007,"B",0.009,"B",0,"D",1,"D",0.235,"N",-0.13,"T",0.27,"N",0.661,1.997,16.19,0.984,0.997,"D",-0.944,"T",0.123,"T",0.719,0,5.4,0.917,0.902,0.995,0.979,18.78,"FamilyBased",".","ASD","WGS",".","."]
[161987,28263302,17,48964347,48964347,"C","T","DeNovo",".",".","17q21.32","exonic","GIP",2695,".","nonsynonymous SNV","GIP:NM_004123:exon3:c.G220A:p.V74M",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",0.999,"D",0,"D",0.987,"D",2.55,"M",0.95,"T",-2.76,"D",0.881,6.16,28.5,0.999,0.822,"D",-0.495,"T",0.276,"T",0.57,0,5.32,0.871,0.934,0.994,0.999,14.357,"FamilyBased",".","ASD","WGS",".","."]
[164046,28263302,3,52359271,52359271,"C","G","DeNovo",".",".","3p21.1","exonic","DNAH1",25981,".","nonsynonymous SNV","DNAH1:NM_015512:exon26:c.A4292G:p.N1431S",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.722,"T",0,"B",1E-3,"B",0.497,"N",1,"N",0.185,"N",0.55,"T",-0.66,"N",0.042,-0.145,1.417,0.733,0.224,"N",-1.023,"T",0.068,"T",0.615,0,0.228,0.075,0.234,0.995,0.998,6.375,"FamilyBased",".","ASD","WGS",".","."]
[167425,28263302,19,8473673,8473673,"C","A","DeNovo",".",".","19p13.2","exonic","HNRNPM",4670,".","nonsynonymous SNV","HNRNPM:NM_005968:exon11:c.T1007A:p.M336K,HNRNPM:NM_031203:exon12:c.T890A:p.M297K",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.02,"D",0.099,"B",0.135,"B",0,"D",0.999,"D",2.08,"M",2.68,"T",-2.55,"D",0.831,3.582,23.2,0.97,0.987,"D",-1.111,"T",0.059,"T",0.722,0,5.2,0.991,0.913,1,1,13.925,"FamilyBased",".","ASD","WGS",".","."]
[168761,21572417,5,132934511,132934511,"T","A","DeNovo",".",".","5q31.1","exonic","AFF4",27125,".","nonsynonymous SNV","AFF4:NM_014423:exon3:c.A554T:p.Q185L","CHOPS syndrome, Autosomal dominant",".","rs137880283",0.0049,0.0007,0.0289,0.0117,0.0017,0.0021,3.3E-3,0.0004,4.79233E-3,".",".",".",".",".",0.241,"T",0.02,"B",0.026,"B",1E-3,"D",0.976,"N",0,"N",-0.09,"T",-1.19,"N",0.172,1.578,13.73,0.985,0.826,"D",-0.994,"T",0.062,"T",0.672,0,3.49,-0.013,1.061,0.988,1,12.554,"FamilyBased",".","ASD","WES",".","."]
[168862,21572417,7,142866514,142866514,"G","A","DeNovo",".",".","7q34","exonic","EPHB6",2051,".","nonsynonymous SNV","EPHB6:NM_001280795:exon6:c.G617A:p.S206N,EPHB6:NM_004445:exon7:c.G1496A:p.S499N,EPHB6:NM_001280794:exon9:c.G617A:p.S206N",".",".","rs139172094",{"v":9.07e-05,"d":"9.07E-05"},0,0,0.0013,0,0,0,0,0.000599042,".",".",".",".",".",".",".",1,"D",0.989,"D",0,"D",1,"D",2.215,"M",".",".",".",".",0.067,4.516,24.3,0.996,0.922,"D",-0.618,"T",0.257,"T",0.778,0,5.04,0.917,1.044,1,1,17.807,"FamilyBased",".","ASD","WES",".","."]
[168936,21572417,2,102009592,102009592,"G","A","DeNovo",".",".","2q11.2","exonic","IL1R2",7850,".","nonsynonymous SNV","IL1R2:NM_001261419:exon3:c.G98A:p.R33K,IL1R2:NM_004633:exon3:c.G98A:p.R33K",".",".","rs149708591",0.0002,{"v":9.63e-05,"d":"9.63E-05"},{"v":8.64e-05,"d":"8.64E-05"},0,0,0.0003,0,0,".",".",".",".",".",".",0.921,"T",0,"B",0,"B",0.276,"N",1,"N",-0.46,"N",2.2,"T",0.68,"N",0.229,-2.003,1E-3,0.516,0.004,"N",-0.997,"T",0.019,"T",0.554,0,-2.3,-0.23,-0.706,0.004,0,2.993,"FamilyBased",".","ASD","WES",".","."]
[168951,21572417,9,131026365,131026365,"C","T","DeNovo",".",".","9q34.12","exonic","LAMC3",10319,".","nonsynonymous SNV","LAMC3:NM_006059:exon2:c.C454T:p.R152C","Cortical malformations, occipital, Autosomal recessive",".","rs45628035",0.0114,0.0016,0.0068,1E-4,0.0067,0.0164,0.0067,0.0088,0.0061901,"Likely benign","not_specified","RCV000117475.2","MedGen","CN169374",0.058,"T",0.402,"B",0.06,"B",0.577,"N",1,"N",0.69,"N",-1.37,"T",-2.94,"D",0.148,4.641,24.5,0.985,0.242,"N",-0.935,"T",0.162,"T",0.696,0,2.79,-0.048,-0.359,0.007,2E-3,11,"FamilyBased",".","ASD","WES",".","."]
[168973,21572417,9,131057085,131057085,"G","A","DeNovo",".",".","9q34.12","exonic","LAMC3",10319,".","nonsynonymous SNV","LAMC3:NM_006059:exon12:c.G2096A:p.G699D","Cortical malformations, occipital, Autosomal recessive",".","rs61737720",0.0029,0.032,1.4E-3,0,0,{"v":4.52e-05,"d":"4.52E-05"},0,{"v":6.06e-05,"d":"6.06E-05"},0.0113818,".",".",".",".",".",0.004,"D",0.998,"D",0.994,"D",0,"D",1,"D",2.29,"M",-0.03,"T",-6.29,"D",0.267,6.073,28.1,0.998,0.965,"D",-0.523,"T",0.122,"T",0.737,0,4.89,0.917,0.926,0.971,0.913,17.142,"FamilyBased",".","ASD","WES",".","."]
[169022,21572417,12,57028861,57028861,"T","G","DeNovo",".",".","12q13.3","exonic","MYO1A",4640,".","nonsynonymous SNV","MYO1A:NM_005379:exon28:c.A3026C:p.E1009A,MYO1A:NM_001256041:exon29:c.A3026C:p.E1009A",".",".","rs76394585",0.0057,0.0624,0.0026,0,0,1E-4,3.3E-3,{"v":6.06e-05,"d":"6.06E-05"},0.0191693,"Benign|Likely benign","not_specified|Nonsyndromic_Hearing_Loss\\x2c_Dominant","RCV000155375.1|RCV000391209.1","MedGen|MedGen","CN169374|CN239435",0.224,"T",0.802,"P",0.659,"P",0.02,"N",0.998,"N",1.265,"L",1.27,"T",-0.93,"N",0.256,0.704,8.852,0.98,0.845,"D",-1.129,"T",0.013,"T",0.516,0,4.05,0.991,0.998,0.973,0.8,6.891,"FamilyBased",".","ASD","WES",".","."]
[169038,21572417,12,57039267,57039267,"G","A","DeNovo",".",".","12q13.3","exonic","MYO1A",4640,".","nonsynonymous SNV","MYO1A:NM_005379:exon15:c.C1277T:p.P426L,MYO1A:NM_001256041:exon16:c.C1277T:p.P426L",".",".","rs4759043",0.0246,0.0021,0.2447,0.0102,0,0.0003,0.0178,0.0002,0.0225639,"Benign|Likely benign","not_specified|Nonsyndromic_Hearing_Loss\\x2c_Dominant","RCV000038470.2|RCV000398570.1","MedGen|MedGen","CN169374|CN239435",0.025,"D",0.985,"D",0.507,"P",0,"D",1,"D",1.695,"L",-2.22,"D",-3.23,"D",0.244,3.586,23.2,0.998,0.876,"D",-0.972,"T",0.014,"T",0.554,0,3.82,0.63,1.048,0.979,0.908,9.056,"FamilyBased",".","ASD","WES",".","."]
[169071,21572417,3,29988192,29988192,"C","T","DeNovo",".",".","3p24.1","exonic","RBMS3",27303,".","nonsynonymous SNV","RBMS3:NM_001003792:exon12:c.C1094T:p.T365M,RBMS3:NM_001177711:exon12:c.C1100T:p.T367M,RBMS3:NM_014483:exon12:c.C1100T:p.T367M,RBMS3:NM_001003793:exon13:c.C1148T:p.T383M,RBMS3:NM_001177712:exon13:c.C1139T:p.T380M",".","ID=COSM1043499;OCCURENCE=1(endometrium)","rs199569162",{"v":4.12e-05,"d":"4.12E-05"},{"v":9.61e-05,"d":"9.61E-05"},0,0,0,{"v":4.5e-05,"d":"4.50E-05"},0,{"v":6.06e-05,"d":"6.06E-05"},1.99681E-4,".",".",".",".",".",2E-3,"D",0.999,"D",0.947,"D",0,"D",1,"D",0,"N",1.6,"T",-1.73,"N",0.668,7.353,34,0.999,0.985,"D",-0.995,"T",0.095,"T",0.615,0,5.79,0.871,0.935,1,1,20.031,"FamilyBased",".","ASD","WES",".","."]
[169125,21572417,5,69104649,69104649,"C","T","DeNovo",".",".","5q13.2","exonic","SLC30A5",64924,".","nonsynonymous SNV","SLC30A5:NM_022902:exon4:c.C292T:p.H98Y",".",".","rs149216450",{"v":3.3e-05,"d":"3.30E-05"},0,0,0.0005,0,0,0,0,1.99681E-4,".",".",".",".",".",0.176,"T",0.296,"B",0.097,"B",0,"D",1,"D",1.905,"M",-0.14,"T",-1.24,"N",0.702,3.716,23.3,0.975,0.974,"D",-0.773,"T",0.232,"T",0.732,0,5.52,0.871,0.852,1,1,19.027,"FamilyBased",".","ASD","WES",".","."]
[169156,21572417,6,152140027,152140027,"C","T","DeNovo",".",".","6q25.2","exonic","SYNE1",23345,".","nonsynonymous SNV","SYNE1:NM_001347702:exon12:c.G1915A:p.E639K,SYNE1:NM_001347701:exon13:c.G1987A:p.E663K,SYNE1:NM_033071:exon140:c.G25237A:p.E8413K,SYNE1:NM_182961:exon140:c.G25381A:p.E8461K","Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive",".","rs119103248",0.0006,0.0003,0.0016,0,0,0.0007,0,0,0.000798722,"Pathogenic|Uncertain significance|Likely benign|Likely benign","Emery-Dreifuss_muscular_dystrophy_4\\x2c_autosomal_dominant|not_specified|Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy","RCV000002424.2|RCV000174817.2|RCV000329983.1|RCV000389137.1","MedGen:OMIM|MedGen|.|MedGen:Orphanet:SNOMED_CT","C2751807:612998|CN169374|.|C0410189:ORPHA261:111508004",0.295,"T",0.615,"P",0.567,"P",0.003,"N",1,"D",2.14,"M",0.69,"T",-2.07,"N",0.848,4.59,24.4,0.999,0.958,"D",-0.903,"T",0.181,"T",0.707,0,5.92,0.871,0.935,0.972,0.804,20.321,"FamilyBased",".","ASD","WES",".","."]
[169170,21572417,6,152164210,152164210,"C","T","DeNovo",".",".","6q25.2","exonic","SYNE1",23345,".","nonsynonymous SNV","SYNE1:NM_001347702:exon2:c.G208A:p.D70N,SYNE1:NM_001347701:exon4:c.G349A:p.D117N,SYNE1:NM_033071:exon130:c.G23530A:p.D7844N,SYNE1:NM_182961:exon131:c.G23743A:p.D7915N","Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive",".","rs76699382",0.0027,0.028,0.0022,0,0,1E-4,0.0011,{"v":6.06e-05,"d":"6.06E-05"},0.00898562,"Likely benign|Likely benign","Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy","RCV000328264.1|RCV000368814.1",".|MedGen:Orphanet:SNOMED_CT",".|C0410189:ORPHA261:111508004",0.031,"D",0.228,"B",0.069,"B",0.261,"N",0.971,"D",1.23,"L",1.59,"T",-4.2,"D",0.1,3.936,23.5,0.998,0.918,"D",-1.085,"T",0.034,"T",0.732,0,2.01,0.033,0.807,0.986,0.997,9.418,"FamilyBased",".","ASD","WES",".","."]
[169186,21572417,6,152219095,152219095,"C","T","DeNovo",".",".","6q25.2","exonic","SYNE1",23345,".","nonsynonymous SNV","SYNE1:NM_033071:exon119:c.G21739A:p.A7247T,SYNE1:NM_182961:exon120:c.G21952A:p.A7318T","Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive",".","rs145494541",1E-4,0,{"v":8.64e-05,"d":"8.64E-05"},0,0,1E-4,0.0011,1E-4,1.99681E-4,"Likely benign|Likely benign|Uncertain significance","Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified","RCV000300395.1|RCV000340078.1|RCV000393266.1",".|MedGen:Orphanet:SNOMED_CT|MedGen",".|C0410189:ORPHA261:111508004|CN169374",0.828,"T",1,"D",0.95,"D",0,"D",1,"D",2.045,"M",1.58,"T",-0.75,"N",0.684,3.652,23.2,0.989,0.929,"D",-0.772,"T",0.261,"T",0.707,0,5.79,0.871,0.852,0.75,0.232,19.617,"FamilyBased",".","ASD","WES",".","."]
[169220,21572417,6,152310734,152310734,"C","T","DeNovo",".",".","6q25.2","exonic","SYNE1",23345,".","nonsynonymous SNV","SYNE1:NM_033071:exon87:c.G16637A:p.R5546Q,SYNE1:NM_182961:exon88:c.G16850A:p.R5617Q","Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive",".","rs141550859",1E-4,0.0013,0,0,0,{"v":3e-05,"d":"3.00E-05"},0,0,1.99681E-4,"Uncertain significance","not_specified","RCV000180435.2","MedGen","CN169374",1,"T",1E-3,"B",1E-3,"B",0.347,"N",1,"N",0.345,"N",1.42,"T",1.88,"N",0.202,0.473,7.225,0.725,0.375,"N",-0.951,"T",0.02,"T",0.651,0,-1.4,-0.011,-1.683,0.726,0.461,13.093,"FamilyBased",".","ASD","WES",".","."]
[169244,21572417,6,152331049,152331049,"C","T","DeNovo",".",".","6q25.2","exonic","SYNE1",23345,".","nonsynonymous SNV","SYNE1:NM_033071:exon77:c.G13423A:p.V4475I,SYNE1:NM_182961:exon78:c.G13636A:p.V4546I","Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive",".","rs4870093",0.0035,0.0004,0.0302,0.0074,0,{"v":3e-05,"d":"3.00E-05"},0.0011,0,0.00319489,"Benign|Likely benign|Likely benign","not_specified|Emery-Dreifuss_muscular_dystrophy|Cerebellar_ataxia","RCV000284118.1|RCV000289550.1|RCV000342155.1","MedGen|MedGen:Orphanet:SNOMED_CT|.","CN169374|C0410189:ORPHA261:111508004|.",0.25,"T",0.01,"B",0.011,"B",1E-3,"N",1,"N",1.7,"L",1.25,"T",-0.19,"N",0.092,0.257,5.269,0.713,0.746,"D",-1.067,"T",0.042,"T",0.615,0,5.15,-0.041,0.935,0.964,0.917,12.627,"FamilyBased",".","ASD","WES",".","."]
[169266,21572417,6,152350730,152350730,"T","G","DeNovo",".",".","6q25.2","exonic","SYNE1",23345,".","nonsynonymous SNV","SYNE1:NM_033071:exon71:c.A11576C:p.K3859T,SYNE1:NM_182961:exon71:c.A11621C:p.K3874T","Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive",".","rs13210127",0.0364,0.0102,0.0383,0.1312,0.0234,0.0189,0.0352,0.0778,0.0543131,"other|Benign|Benign","not_specified|Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy","RCV000118434.3|RCV000339374.1|RCV000403375.1","MedGen|.|MedGen:Orphanet:SNOMED_CT","CN169374|.|C0410189:ORPHA261:111508004",0.655,"T",0.05,"B",0.052,"B",0.11,"N",0.02,"P",0.9,"L",1.3,"T",-1.27,"N",0.245,2.231,17.71,0.949,0.889,"D",-1.053,"T",0.025,"T",0.476,0,2.3,0.039,0.088,0.751,0.723,7.263,"FamilyBased",".","ASD","WES",".","."]
[169283,21572417,6,152359362,152359362,"G","C","DeNovo",".",".","6q25.2","exonic","SYNE1",23345,".","nonsynonymous SNV","SYNE1:NM_033071:exon65:c.C10417G:p.L3473V,SYNE1:NM_182961:exon65:c.C10396G:p.L3466V","Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive",".","rs150637898",1E-4,1.5E-3,0,0,0,0,0,0,0.000599042,"Likely benign|Uncertain significance|Likely benign","Emery-Dreifuss_muscular_dystrophy|not_specified|Cerebellar_ataxia","RCV000306417.1|RCV000337599.1|RCV000347469.1","MedGen:Orphanet:SNOMED_CT|MedGen|.","C0410189:ORPHA261:111508004|CN169374|.",0.391,"T",1E-3,"B",0.007,"B",0.027,"N",1,"D",1.67,"L",1.07,"T",-0.68,"N",0.197,-0.146,1.412,0.543,0.747,"D",-1.06,"T",0.072,"T",0.554,0,1.53,-0.069,0.067,0.969,0.086,13.699,"FamilyBased",".","ASD","WES",".","."]
[169295,21572417,6,152369015,152369015,"G","A","DeNovo",".",".","6q25.2","exonic","SYNE1",23345,".","nonsynonymous SNV","SYNE1:NM_033071:exon61:c.C9785T:p.S3262L,SYNE1:NM_182961:exon61:c.C9764T:p.S3255L","Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive",".","rs114954026",2E-3,0.0219,1E-3,0.0002,0,{"v":1.5E-5,"d":"1.50E-05"},0.0011,1E-4,0.0061901,"Likely benign|Likely benign|Likely benign","not_specified|Emery-Dreifuss_muscular_dystrophy|Cerebellar_ataxia","RCV000248155.1|RCV000335161.1|RCV000391869.1","MedGen|MedGen:Orphanet:SNOMED_CT|.","CN169374|C0410189:ORPHA261:111508004|.",0.007,"D",0.999,"D",0.975,"D",0,"D",1,"D",0.975,"L",1.26,"T",-2.72,"D",0.376,7.24,34,0.999,0.991,"D",-0.944,"T",0.172,"T",0.497,0,5.93,0.917,1.048,1,1,20.336,"FamilyBased",".","ASD","WES",".","."]
[169315,21572417,6,152391305,152391305,"G","T","DeNovo",".",".","6q25.2","exonic","SYNE1",23345,".","nonsynonymous SNV","SYNE1:NM_033071:exon52:c.C7997A:p.T2666N,SYNE1:NM_182961:exon52:c.C7976A:p.T2659N","Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive",".","rs117480635",0.0024,0.0006,0.0016,0,0.0006,0.0036,0,0.0013,0.00159744,"Likely benign|Likely benign|Likely benign","not_specified|Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy","RCV000179112.2|RCV000276858.1|RCV000369171.1","MedGen|.|MedGen:Orphanet:SNOMED_CT","CN169374|.|C0410189:ORPHA261:111508004",0.238,"T",0.683,"P",0.334,"B",0.031,"N",1,"N",1.935,"M",0.67,"T",-1.89,"N",0.056,0.895,10.05,0.826,0.856,"D",-1.032,"T",0.08,"T",0.487,0,5.04,0.917,1.045,0.191,0.032,11.596,"FamilyBased",".","ASD","WES",".","."]
[169328,21572417,6,152413378,152413378,"A","C","DeNovo",".",".","6q25.2","exonic","SYNE1",23345,".","nonsynonymous SNV","SYNE1:NM_033071:exon42:c.T6225G:p.D2075E,SYNE1:NM_182961:exon42:c.T6204G:p.D2068E","Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive",".","rs142567597",{"v":8.24e-06,"d":"8.24E-06"},0,0,1E-4,0,0,0,0,1.99681E-4,".",".",".",".",".",1,"T",0,"B",2E-3,"B",0.129,"N",0.961,"N",0.29,"N",1.42,"T",0.57,"N",0.105,-0.044,2.186,0.853,0.216,"N",-0.929,"T",0.008,"T",0.487,0,-1.68,0.09,-0.119,0.992,0.926,0.976,"FamilyBased",".","ASD","WES",".","."]
[169340,21572417,6,152436089,152436089,"G","A","DeNovo",".",".","6q25.2","exonic","SYNE1",23345,".","nonsynonymous SNV","SYNE1:NM_033071:exon33:c.C4183T:p.R1395W,SYNE1:NM_182961:exon33:c.C4162T:p.R1388W","Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive",".","rs34028822",0.0029,1E-3,1.5E-3,0,0.0002,0.0041,0.0044,0.0027,2.39617E-3,"Likely benign|Likely benign|Likely benign","Emery-Dreifuss_muscular_dystrophy|not_specified|Cerebellar_ataxia","RCV000355399.1|RCV000361899.1|RCV000392276.1","MedGen:Orphanet:SNOMED_CT|MedGen|.","C0410189:ORPHA261:111508004|CN169374|.",0.012,"D",1,"D",0.951,"D",0.003,"N",0.901,"D",1.61,"L",0.6,"T",-2.46,"N",0.62,6.572,31,0.999,0.975,"D",0.464,"D",0.685,"D",0.487,0,4.04,-0.02,0.045,0.987,0.991,14.809,"FamilyBased",".","ASD","WES",".","."]
[169356,21572417,6,152458911,152458911,"G","A","DeNovo",".",".","6q25.2","exonic","SYNE1",23345,".","nonsynonymous SNV","SYNE1:NM_033071:exon22:c.C2435T:p.P812L,SYNE1:NM_182961:exon22:c.C2414T:p.P805L","Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive",".","rs201508577",{"v":3.32e-05,"d":"3.32E-05"},0,0,0.0005,0,0,0,0,0.000399361,".",".",".",".",".",0.751,"T",0.619,"P",0.281,"B",0.01,"N",1,"D",1.32,"L",1.4,"T",-2.82,"D",0.434,3.647,23.2,0.873,0.741,"D",-1.116,"T",0.057,"T",0.487,0,5.72,0.917,1.048,0.988,1,14.427,"FamilyBased",".","ASD","WES",".","."]
[169404,21572417,9,32633067,32633067,"T","C","DeNovo",".",".","9p21.1","exonic","TAF1L",138474,".","nonsynonymous SNV","TAF1L:NM_153809:exon1:c.A2513G:p.K838R",".",".","rs115412627",0.0002,0.0029,0,0,0,0,0,0,0.000998403,".",".",".",".",".",0.834,"T",1E-3,"B",2E-3,"B",0,"D",0.722,"N",-0.255,"N",2.5,"T",-0.3,"N",0.042,1.167,11.57,0.955,0.132,"N",-0.968,"T",0.007,"T",0.638,0,-2.38,-0.267,0.265,0.989,0.961,2.865,"FamilyBased",".","ASD","WES",".","."]
[169439,21572417,2,178745892,178745892,"C","G","DeNovo",".",".","2q31.2","exonic","TTN",7273,".","nonsynonymous SNV","TTN:NM_133379:exon46:c.G16508C:p.S5503T","Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant",".","rs16866489",2E-3,0.0221,0.0005,0,0,1E-4,0.0022,0,5.79073E-3,"Benign","not_specified","RCV000041072.4","MedGen","CN169374",0.262,"T",0.493,"P",0.167,"B",".",".",1,"D",0.805,"L",0.35,"T",-0.1,"N",0.036,0.927,10.24,0.961,0.971,"D",-1.081,"T",0.055,"T",0.487,0,5.06,0.871,0.935,0.996,0.887,12.152,"FamilyBased",".","ASD","WES",".","."]
[169453,21572417,2,178748452,178748452,"G","A","DeNovo",".",".","2q31.2","exonic","TTN",7273,".","nonsynonymous SNV","TTN:NM_133379:exon46:c.C13948T:p.P4650S","Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant",".","rs149748934",2E-3,0.0008,0.0013,0,0,0.0032,0.0011,1E-4,1.19808E-3,"Likely benign|Likely benign","not_specified|not_provided","RCV000041034.4|RCV000172712.2","MedGen|MedGen","CN169374|CN221809",0,"D",0,"B",1E-3,"B",".",".",1,"N",-0.345,"N",0.48,"T",0.74,"N",0.036,0.117,3.791,0.338,0.033,"N",-1.023,"T",0.037,"T",0.487,0,-4.24,-0.29,-0.531,0.015,1E-3,6.456,"FamilyBased",".","ASD","WES",".","."]
[169470,21572417,2,178750246,178750246,"A","T","DeNovo",".",".","2q31.2","exonic","TTN",7273,".","nonsynonymous SNV","TTN:NM_133379:exon46:c.T12154A:p.Y4052N","Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant",".","rs139332894",{"v":8.26e-06,"d":"8.26E-06"},0,0,1E-4,0,0,0,0,1.99681E-4,".",".",".",".",".",0.303,"T",0.753,"P",0.246,"B",".",".",1,"N",0.695,"N",0.17,"T",-1.11,"N",0.221,-0.366,0.467,0.639,0.19,"N",-1.071,"T",0.104,"T",0.487,0,3.06,0.075,0.203,0.003,0.003,8.131,"FamilyBased",".","ASD","WES",".","."]
[169488,21572417,2,178764188,178764188,"A","G","DeNovo",".",".","2q31.2","exonic","TTN",7273,".","nonsynonymous SNV","TTN:NM_003319:exon42:c.T9965C:p.V3322A,TTN:NM_133432:exon42:c.T9965C:p.V3322A,TTN:NM_133437:exon42:c.T9965C:p.V3322A,TTN:NM_001256850:exon43:c.T10103C:p.V3368A,TTN:NM_001267550:exon43:c.T10103C:p.V3368A,TTN:NM_133378:exon43:c.T10103C:p.V3368A,TTN:NM_133379:exon43:c.T10103C:p.V3368A","Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant",".","rs149309988",{"v":8.24e-06,"d":"8.24E-06"},{"v":9.62e-05,"d":"9.62E-05"},0,0,0,0,0,0,1.99681E-4,".",".",".",".",".",0.174,"T",1,"D",0.996,"D",".",".",1,"D",1.24,"L",-0.76,"T",-2.67,"D",0.586,2.93,22,0.98,0.989,"D",0.128,"D",0.488,"T",0.549,0,5.69,1.062,1.199,0.993,0.998,15.956,"FamilyBased",".","ASD","WES",".","."]
[169498,21572417,2,178767892,178767892,"C","T","DeNovo",".",".","2q31.2","exonic","TTN",7273,".","nonsynonymous SNV","TTN:NM_003319:exon39:c.G9200A:p.R3067H,TTN:NM_133432:exon39:c.G9200A:p.R3067H,TTN:NM_133437:exon39:c.G9200A:p.R3067H,TTN:NM_001256850:exon40:c.G9338A:p.R3113H,TTN:NM_001267550:exon40:c.G9338A:p.R3113H,TTN:NM_133378:exon40:c.G9338A:p.R3113H,TTN:NM_133379:exon40:c.G9338A:p.R3113H","Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant",".","rs141258018",0.0005,0,0,0.0058,0,0,0,0.0005,0.00139776,"Uncertain significance|Uncertain significance|Uncertain significance|Likely benign|Uncertain significance|Uncertain significance|Uncertain significance|Uncertain significance","not_provided|Hereditary_myopathy_with_early_respiratory_failure|Myopathy\\x2c_early-onset\\x2c_with_fatal_cardiomyopathy|not_specified|Limb-Girdle_Muscular_Dystrophy\\x2c_Recessive|Distal_myopathy_Markesbery-Griggs_type|Hypertrophic_cardiomyopathy|Dilated_Cardiomyopathy\\x2c_Dominant","RCV000118797.3|RCV000273543.1|RCV000313328.1|RCV000317280.1|RCV000319315.1|RCV000355456.1|RCV000368092.1|RCV000395255.1","MedGen|MedGen:OMIM:Orphanet|MedGen:OMIM:Orphanet|MedGen|MedGen|MedGen:OMIM:Orphanet|Human_Phenotype_Ontology:MedGen:Orphanet|MedGen","CN221809|C1863599:603689:ORPHA178464|C2673677:611705:ORPHA289377|CN169374|CN239352|C1838244:600334:ORPHA609|HP:0001639:C0007194:ORPHA217569|CN239310",0.183,"T",1,"D",0.992,"D",".",".",1,"D",2.035,"M",-0.29,"T",-3.28,"D",0.733,4.399,24.1,0.984,0.974,"D",0.028,"D",0.407,"T",0.516,0,5.9,0.871,0.935,1,1,20.266,"FamilyBased",".","ASD","WES",".","."]
[169518,21572417,2,178773994,178773994,"C","T","DeNovo",".",".","2q31.2","exonic","TTN",7273,".","nonsynonymous SNV","TTN:NM_003319:exon30:c.G7036A:p.G2346S,TTN:NM_133432:exon30:c.G7036A:p.G2346S,TTN:NM_133437:exon30:c.G7036A:p.G2346S,TTN:NM_001256850:exon31:c.G7174A:p.G2392S,TTN:NM_001267550:exon31:c.G7174A:p.G2392S,TTN:NM_133378:exon31:c.G7174A:p.G2392S,TTN:NM_133379:exon31:c.G7174A:p.G2392S","Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant",".","rs4894048",0.0653,0.0952,0.1909,0.0179,0.0575,0.0248,0.0694,0.1502,0.0874601,"Benign|Benign|Likely benign|Likely benign|Likely benign|Likely benign|Likely benign|Likely benign","not_specified|Cardiovascular_phenotype|Limb-Girdle_Muscular_Dystrophy\\x2c_Recessive|Distal_myopathy_Markesbery-Griggs_type|Myopathy\\x2c_early-onset\\x2c_with_fatal_cardiomyopathy|Dilated_Cardiomyopathy\\x2c_Dominant|Hereditary_myopathy_with_early_respiratory_failure|Hypertrophic_cardiomyopathy","RCV000040647.6|RCV000250391.1|RCV000295307.1|RCV000312895.1|RCV000352535.1|RCV000355835.1|RCV000394645.1|RCV000404983.1","MedGen|MedGen|MedGen|MedGen:OMIM:Orphanet|MedGen:OMIM:Orphanet|MedGen|MedGen:OMIM:Orphanet|Human_Phenotype_Ontology:MedGen:Orphanet","CN169374|CN230736|CN239352|C1838244:600334:ORPHA609|C2673677:611705:ORPHA289377|CN239310|C1863599:603689:ORPHA178464|HP:0001639:C0007194:ORPHA217569",0.039,"D",0.999,"D",0.877,"P",".",".",0.907,"P",3.065,"M",-1.54,"D",-3.57,"D",0.144,2.444,19.1,0.938,0.933,"D",-0.66,"T",0.035,"T",0.554,0,4.86,0.871,0.069,0.999,0.889,15.039,"FamilyBased",".","ASD","WES",".","."]
[169527,21572417,2,178776124,178776124,"C","T","DeNovo",".",".","2q31.2","exonic","TTN",7273,".","nonsynonymous SNV","TTN:NM_003319:exon27:c.G5602A:p.A1868T,TTN:NM_133432:exon27:c.G5602A:p.A1868T,TTN:NM_133437:exon27:c.G5602A:p.A1868T,TTN:NM_001256850:exon28:c.G5740A:p.A1914T,TTN:NM_001267550:exon28:c.G5740A:p.A1914T,TTN:NM_133378:exon28:c.G5740A:p.A1914T,TTN:NM_133379:exon28:c.G5740A:p.A1914T","Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant",".","rs118161093",1E-4,0,0,2E-3,0,0,0,0,0.000399361,".",".",".",".",".",0.004,"D",1,"D",0.999,"D",".",".",1,"D",3.49,"M",-1.02,"T",-2.64,"D",0.637,3.041,22.4,0.949,0.981,"D",0.711,"D",0.728,"D",0.554,0,5.1,0.871,0.834,0.974,0.985,18.514,"FamilyBased",".","ASD","WES",".","."]
[169556,21572417,2,178785988,178785988,"C","T","DeNovo",".",".","2q31.2","exonic","TTN",7273,".","nonsynonymous SNV","TTN:NM_003319:exon13:c.G2092A:p.A698T,TTN:NM_133432:exon13:c.G2092A:p.A698T,TTN:NM_133437:exon13:c.G2092A:p.A698T,TTN:NM_001256850:exon14:c.G2230A:p.A744T,TTN:NM_001267550:exon14:c.G2230A:p.A744T,TTN:NM_133378:exon14:c.G2230A:p.A744T,TTN:NM_133379:exon14:c.G2230A:p.A744T","Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant",".","rs144639994",0.0004,0,0,0.0037,0,{"v":4.5e-05,"d":"4.50E-05"},0,0.0005,1.19808E-3,"Benign","not_specified","RCV000184111.1","MedGen","CN169374",1,"T",0,"B",1E-3,"B",".",".",1,"N",-0.695,"N",0.55,"T",0.31,"N",0.065,0.671,8.634,0.701,0.077,"N",-1.023,"T",0.056,"T",0.549,0,-0.2,0.021,-0.446,0.38,0.047,11.759,"FamilyBased",".","ASD","WES",".","."]
[169587,21572417,3,39184144,39184144,"C","T","DeNovo",".",".","3p22.2","exonic","XIRP1",165904,".","nonsynonymous SNV","XIRP1:NM_001351377:exon2:c.G1351A:p.V451M,XIRP1:NM_194293:exon2:c.G5302A:p.V1768M",".",".","rs111243567",0.0011,0.0105,0.0008,0,0,1E-4,0,0,0.00399361,".",".",".",".",".",0.046,"D",0.492,"P",0.044,"B",0,"U",1,"N",1.59,"L",3.02,"T",-1.15,"N",0.129,2.709,20.9,0.993,0.735,"D",-1.068,"T",0.028,"T",0.534,0,0.098,0.871,0.065,0.235,0.161,4.936,"FamilyBased",".","ASD","WES",".","."]
[169596,21572417,3,39184945,39184945,"C","T","DeNovo",".",".","3p22.2","exonic","XIRP1",165904,".","nonsynonymous SNV","XIRP1:NM_001351377:exon2:c.G550A:p.V184M,XIRP1:NM_194293:exon2:c.G4501A:p.V1501M",".",".","rs58805228",0.0431,0.2701,0.143,0.0396,0.0002,0.0013,0.0291,0.0128,0.103035,".",".",".",".",".",0.027,"D",0.783,"P",0.102,"B",0.48,"U",1,"P",2.125,"M",3.5,"T",-0.96,"N",0.084,2.004,16.24,0.997,0.716,"D",-1.004,"T",0,"T",0.554,0,2.21,2E-3,-0.332,0.078,0.077,7.841,"FamilyBased",".","ASD","WES",".","."]
[169608,21572417,3,39187023,39187023,"G","A","DeNovo",".",".","3p22.2","exonic","XIRP1",165904,".","nonsynonymous SNV","XIRP1:NM_001198621:exon2:c.C2423T:p.S808L,XIRP1:NM_194293:exon2:c.C2423T:p.S808L",".",".","rs61736154",0.0073,0.0687,0.0036,0.0005,0,0.0002,0.0055,0.0064,0.0205671,".",".",".",".",".",0.06,"T",0,"B",0,"B",2E-3,"N",1,"N",0.345,"N",3.95,"T",-1.42,"N",0.059,0.726,8.999,0.947,0.21,"N",-0.953,"T",1E-3,"T",0.526,0,3.23,0.917,0.128,0.486,0.195,10.073,"FamilyBased",".","ASD","WES",".","."]
[169637,28628100,11,66211206,66211206,"C","T","DeNovo",".",".","11q13.2","exonic","PACS1",55690,".","nonsynonymous SNV","PACS1:NM_018026:exon4:c.C607T:p.R203W","Schuurs-Hoeijmakers syndrome, Autosomal dominant","ID=COSM72051;OCCURENCE=1(breast),1(ovary)","rs398123009",{"v":8.24e-06,"d":"8.24E-06"},0,0,1E-4,0,0,0,0,".","other|Pathogenic|Pathogenic","Schuurs-hoeijmakers_syndrome|Multiple_congenital_anomalies|Inborn_genetic_diseases","RCV000032781.5|RCV000190758.1|RCV000210719.1","MedGen:OMIM:Orphanet|MedGen:SNOMED_CT:SNOMED_CT|MeSH:MedGen","C3554343:615009:ORPHA329224|C0000772:116022009:444406006|D030342:C0950123",0,"D",1,"D",0.987,"D",0,"D",1,"D",2.89,"M",1.16,"T",-6.85,"D",0.969,7.636,35,0.999,0.907,"D",-0.524,"T",0.25,"T",0.706,0,4.79,0.871,0.892,0.995,1,12.765,"CaseControl",".","ASD","Targeted",".","."]
[169641,28628100,11,66211206,66211206,"C","T","DeNovo",".",".","11q13.2","exonic","PACS1",55690,".","nonsynonymous SNV","PACS1:NM_018026:exon4:c.C607T:p.R203W","Schuurs-Hoeijmakers syndrome, Autosomal dominant","ID=COSM72051;OCCURENCE=1(breast),1(ovary)","rs398123009",{"v":8.24e-06,"d":"8.24E-06"},0,0,1E-4,0,0,0,0,".","other|Pathogenic|Pathogenic","Schuurs-hoeijmakers_syndrome|Multiple_congenital_anomalies|Inborn_genetic_diseases","RCV000032781.5|RCV000190758.1|RCV000210719.1","MedGen:OMIM:Orphanet|MedGen:SNOMED_CT:SNOMED_CT|MeSH:MedGen","C3554343:615009:ORPHA329224|C0000772:116022009:444406006|D030342:C0950123",0,"D",1,"D",0.987,"D",0,"D",1,"D",2.89,"M",1.16,"T",-6.85,"D",0.969,7.636,35,0.999,0.907,"D",-0.524,"T",0.25,"T",0.706,0,4.79,0.871,0.892,0.995,1,12.765,"CaseControl",".","ASD","Targeted",".","."]
[169654,28628100,2,165344801,165344801,"C","T","DeNovo",".",".","2q24.3","exonic","SCN2A",6326,".","nonsynonymous SNV","SCN2A:NM_001040143:exon15:c.C2809T:p.R937C,SCN2A:NM_001040142:exon16:c.C2809T:p.R937C,SCN2A:NM_021007:exon16:c.C2809T:p.R937C","Epileptic encephalopathy, early infantile, 11, Autosomal dominant;Seizures, benign familial infantile, 3, Autosomal dominant",".","rs796053197",".",".",".",".",".",".",".",".",".","Pathogenic","not_provided","RCV000189235.2","MedGen","CN221809",0,"D",1,"D",1,"D",0,"D",1,"D",4.21,"H",-5.22,"D",-7.74,"D",0.97,7.703,35,0.999,0.968,"D",1.023,"D",0.984,"D",0.615,0,5.42,0.871,0.935,0.97,0.99,19.249,"CaseControl",".","ASD","Targeted",".","."]
[169663,28628100,7,107758687,107758687,"T","G","DeNovo",".",".","7q22.3","exonic","CBLL1",79872,".","nonsynonymous SNV","CBLL1:NM_001284291:exon6:c.T982G:p.S328A,CBLL1:NM_024814:exon6:c.T985G:p.S329A",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.108,"T",0,"B",1E-3,"B",0.097,"N",1,"D",0.55,"N",1.34,"T",-0.88,"N",0.181,1.268,12.1,0.98,0.895,"D",-1.092,"T",0.05,"T",0.707,0,3.27,0.991,1.011,0.993,0.998,6.864,"CaseControl",".","ASD","Targeted",".","."]
[169684,28628100,2,47813800,47813800,"A","T","DeNovo",".",".","2p16.3","exonic","FBXO11",80204,".","nonsynonymous SNV","FBXO11:NM_001190274:exon17:c.T2074A:p.Y692N,FBXO11:NM_025133:exon17:c.T1822A:p.Y608N",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.018,"D",1,"D",0.999,"D",0,"D",1,"D",2.2,"M",-1.24,"T",-6.42,"D",0.874,6.4,29.6,0.99,0.992,"D",0.35,"D",0.653,"D",0.732,0,5.43,1.062,1.199,1,1,15.769,"CaseControl",".","ASD","Targeted",".","."]
[169697,28628100,17,38739601,38739601,"G","A","DeNovo",".",".","17q12","exonic","PCGF2",7703,".","nonsynonymous SNV","PCGF2:NM_007144:exon4:c.C194T:p.P65L",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.243,"B",0.052,"B",0,"D",1,"D",3.34,"M",".",".",".",".",0.372,4.678,24.6,0.968,0.936,"D",-0.764,"T",0.161,"T",0.707,0,3.59,0.917,0.902,0.927,0.82,10.466,"CaseControl",".","ASD","Targeted",".","."]
[169706,28628100,6,24522858,24522858,"G","A","DeNovo",".",".","6p22.3","exonic","ALDH5A1",7915,".","nonsynonymous SNV","ALDH5A1:NM_001080:exon7:c.G1106A:p.R369H,ALDH5A1:NM_170740:exon8:c.G1145A:p.R382H","Succinic semialdehyde dehydrogenase deficiency, Autosomal recessive",".","rs201465237",".",".",".",".",".",".",".",".",0.000399361,".",".",".",".",".",0.219,"T",0.008,"B",0.003,"B",0.026,"N",0.982,"N",2.145,"M",-1.14,"T",-1.64,"N",0.131,-0.142,1.441,0.9,0.121,"N",-1.042,"T",0.204,"T",0.731,0,-6.16,0.897,-0.741,0.978,0.434,18.427,"CaseControl",".","ASD","Targeted",".","."]
[169710,28628100,8,132180246,132180246,"G","A","DeNovo",".",".","8q24.22","exonic","KCNQ3",3786,".","nonsynonymous SNV","KCNQ3:NM_001204824:exon4:c.C328T:p.R110C,KCNQ3:NM_004519:exon4:c.C688T:p.R230C","Seizures, benign neonatal, type 2, Autosomal dominant",".","rs796052676",".",".",".",".",".",".",".",".",".","Pathogenic|Likely pathogenic","not_provided|Benign_familial_neonatal_seizures_2","RCV000187968.2|RCV000210407.1","MedGen|MedGen:OMIM","CN221809|C1852581:121201",0,"D",1,"D",0.999,"D",0,"D",1,"D",3.54,"H",-5.03,"D",-7.46,"D",0.978,7.296,34,0.999,0.958,"D",1.068,"D",0.979,"D",0.638,0,5.52,0.917,1.048,0.974,1,18.41,"CaseControl",".","ASD","Targeted",".","."]
[169711,28628100,12,111310550,111310550,"G","A","DeNovo",".",".","12q24.12","exonic","CUX2",23316,".","nonsynonymous SNV","CUX2:NM_015267:exon15:c.G1768A:p.E590K",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1E-3,"D",1,"D",0.999,"D",0,"D",1,"D",2.14,"M",0.1,"T",-3.29,"D",0.864,6.962,33,0.999,0.986,"D",-0.182,"T",0.39,"T",0.646,0,4.77,0.917,0.819,0.997,0.917,17.793,"CaseControl",".","ASD","Targeted",".","."]
[169712,28628100,12,111310550,111310550,"G","A","DeNovo",".",".","12q24.12","exonic","CUX2",23316,".","nonsynonymous SNV","CUX2:NM_015267:exon15:c.G1768A:p.E590K",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1E-3,"D",1,"D",0.999,"D",0,"D",1,"D",2.14,"M",0.1,"T",-3.29,"D",0.864,6.962,33,0.999,0.986,"D",-0.182,"T",0.39,"T",0.646,0,4.77,0.917,0.819,0.997,0.917,17.793,"CaseControl",".","ASD","Targeted",".","."]
[169713,28628100,14,105368112,105368112,"G","A","DeNovo",".",".","14q32.33","exonic","PACS2",23241,".","nonsynonymous SNV","PACS2:NM_001100913:exon6:c.G625A:p.E209K,PACS2:NM_001243127:exon6:c.G424A:p.E142K,PACS2:NM_015197:exon6:c.G625A:p.E209K",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.061,"T",1,"D",0.992,"D",0,"D",1,"D",2.31,"M",2.32,"T",-2.97,"D",0.696,7.374,34,0.999,0.987,"D",-0.966,"T",0.116,"T",0.706,0,4.14,0.917,0.902,0.986,0.983,14.975,"CaseControl",".","ASD","Targeted",".","."]
[169714,28628100,14,105368112,105368112,"G","A","DeNovo",".",".","14q32.33","exonic","PACS2",23241,".","nonsynonymous SNV","PACS2:NM_001100913:exon6:c.G625A:p.E209K,PACS2:NM_001243127:exon6:c.G424A:p.E142K,PACS2:NM_015197:exon6:c.G625A:p.E209K",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.061,"T",1,"D",0.992,"D",0,"D",1,"D",2.31,"M",2.32,"T",-2.97,"D",0.696,7.374,34,0.999,0.987,"D",-0.966,"T",0.116,"T",0.706,0,4.14,0.917,0.902,0.986,0.983,14.975,"CaseControl",".","ASD","Targeted",".","."]
[169715,28628100,11,6956395,6956395,"G","A","DeNovo",".",".","11p15.4","exonic","ZNF215",7762,".","nonsynonymous SNV","ZNF215:NM_013250:exon7:c.G1418A:p.R473Q",".",".","rs200066448",{"v":4.95e-05,"d":"4.95E-05"},0.0002,0,1E-4,0,{"v":4.5e-05,"d":"4.50E-05"},0,0,1.99681E-4,".",".",".",".",".",0.353,"T",0.482,"P",0.04,"B",1E-3,"N",1,"N",0.45,"N",1.62,"T",1.2,"N",0.104,2.83,21.5,0.97,0.03,"N",-0.991,"T",0.027,"T",0.633,0,1.87,-0.084,0.005,0.871,0.505,8.273,"CaseControl",".","ASD","Targeted",".","."]
[169716,28628100,11,6956395,6956395,"G","A","DeNovo",".",".","11p15.4","exonic","ZNF215",7762,".","nonsynonymous SNV","ZNF215:NM_013250:exon7:c.G1418A:p.R473Q",".",".","rs200066448",{"v":4.95e-05,"d":"4.95E-05"},0.0002,0,1E-4,0,{"v":4.5e-05,"d":"4.50E-05"},0,0,1.99681E-4,".",".",".",".",".",0.353,"T",0.482,"P",0.04,"B",1E-3,"N",1,"N",0.45,"N",1.62,"T",1.2,"N",0.104,2.83,21.5,0.97,0.03,"N",-0.991,"T",0.027,"T",0.633,0,1.87,-0.084,0.005,0.871,0.505,8.273,"CaseControl",".","ASD","Targeted",".","."]
[169717,28628100,20,35655306,35655306,"C","T","DeNovo",".",".","20q11.22","exonic","RBM12",10137,".","nonsynonymous SNV","RBM12:NM_001198840:exon2:c.G17A:p.R6H,RBM12:NM_001198838:exon3:c.G17A:p.R6H,RBM12:NM_006047:exon3:c.G17A:p.R6H,RBM12:NM_152838:exon3:c.G17A:p.R6H",".",".","rs747471647",{"v":8.4e-06,"d":"8.40E-06"},0,0,0,0,{"v":1.52E-5,"d":"1.52E-05"},0,0,".",".",".",".",".",".",0.023,"D",1,"D",0.999,"D",0,"D",1,"D",2.54,"M",3.06,"T",-4.34,"D",0.99,4.894,24.9,0.997,0.96,"D",-0.619,"T",0.258,"T",0.672,0,5.22,0.871,0.852,1,1,18.987,"CaseControl",".","ASD","Targeted",".","."]
[169718,28628100,20,35655307,35655307,"G","A","DeNovo",".",".","20q11.22","exonic","RBM12",10137,".","nonsynonymous SNV","RBM12:NM_001198840:exon2:c.C16T:p.R6C,RBM12:NM_001198838:exon3:c.C16T:p.R6C,RBM12:NM_006047:exon3:c.C16T:p.R6C,RBM12:NM_152838:exon3:c.C16T:p.R6C",".",".","rs769171386",{"v":8.4e-06,"d":"8.40E-06"},0,0,0,0,{"v":1.52E-5,"d":"1.52E-05"},0,0,".",".",".",".",".",".",0,"D",1,"D",0.999,"D",0,"D",1,"D",3.44,"M",3.01,"T",-6.95,"D",0.995,4.659,24.5,0.994,0.921,"D",-0.194,"T",0.332,"T",0.672,0,5.22,0.917,0.953,1,1,18.987,"CaseControl",".","ASD","Targeted",".","."]
[169719,28628100,14,28767840,28767840,"C","A","DeNovo",".",".","14q12","exonic","FOXG1",2290,".","nonsynonymous SNV","FOXG1:NM_005249:exon1:c.C561A:p.N187K","Rett syndrome, congenital variant, Isolated cases",".","rs796052462",".",".",".",".",".",".",".",".",".","Pathogenic|Pathogenic","not_provided|Inborn_genetic_diseases","RCV000187456.2|RCV000190704.1","MedGen|MeSH:MedGen","CN221809|D030342:C0950123",0.007,"D",1,"D",1,"D",0,"U",1,"D",1.24,"L",-3.68,"D",-5.17,"D",0.435,5.397,26,0.997,0.942,"D",0.585,"D",0.816,"D",0.598,0,1.81,-0.024,0.721,0.994,0.997,8.157,"CaseControl",".","ASD","Targeted",".","."]
[169720,28628100,14,28767840,28767840,"C","G","DeNovo",".",".","14q12","exonic","FOXG1",2290,".","nonsynonymous SNV","FOXG1:NM_005249:exon1:c.C561G:p.N187K","Rett syndrome, congenital variant, Isolated cases",".",".",".",".",".",".",".",".",".",".",".","Pathogenic","not_provided","RCV000255136.1","MedGen","CN221809",0.007,"D",1,"D",1,"D",0,"U",1,"D",1.24,"L",-3.68,"D",-5.17,"D",0.435,4.907,24.9,0.997,0.944,"D",0.585,"D",0.816,"D",0.598,0,1.81,-0.024,0.721,0.994,0.997,8.157,"CaseControl",".","ASD","Targeted",".","."]
[169721,28628100,20,63445321,63445321,"C","T","DeNovo",".",".","20q13.33","exonic","KCNQ2",3785,".","nonsynonymous SNV","KCNQ2:NM_004518:exon3:c.G431A:p.R144Q,KCNQ2:NM_172106:exon3:c.G431A:p.R144Q,KCNQ2:NM_172107:exon3:c.G431A:p.R144Q,KCNQ2:NM_172108:exon3:c.G431A:p.R144Q,KCNQ2:NM_172109:exon3:c.G431A:p.R144Q","Epileptic encephalopathy, early infantile, 7, Autosomal dominant;Myokymia, Autosomal dominant;Seizures, benign neonatal, 1, Autosomal dominant",".","rs796052618",".",".",".",".",".",".",".",".",".","Likely pathogenic|Pathogenic","not_provided|Early_infantile_epileptic_encephalopathy_7","RCV000187853.2|RCV000408747.1","MedGen|MedGen:OMIM:Orphanet","CN221809|C3150986:613720:ORPHA439218",0.026,"D",1,"D",1,"D",0,"D",1,"D",3.085,"M",-5,"D",-3.27,"D",0.94,6.721,32,0.999,0.891,"D",1.093,"D",0.967,"D",0.718,0,3.61,0.871,0.803,0.979,0.996,15.606,"CaseControl",".","ASD","Targeted",".","."]
[169722,28628100,20,63445322,63445322,"G","A","DeNovo",".",".","20q13.33","exonic","KCNQ2",3785,".","nonsynonymous SNV","KCNQ2:NM_004518:exon3:c.C430T:p.R144W,KCNQ2:NM_172106:exon3:c.C430T:p.R144W,KCNQ2:NM_172107:exon3:c.C430T:p.R144W,KCNQ2:NM_172108:exon3:c.C430T:p.R144W,KCNQ2:NM_172109:exon3:c.C430T:p.R144W","Epileptic encephalopathy, early infantile, 7, Autosomal dominant;Myokymia, Autosomal dominant;Seizures, benign neonatal, 1, Autosomal dominant","ID=COSM1153946,COSM1029096;OCCURENCE=1(endometrium)",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",1,"D",0,"D",1,"D",3.785,"H",-5.1,"D",-6.78,"D",0.93,5.74,26.9,0.999,0.248,"N",1.104,"D",0.974,"D",0.718,0,-1.04,-0.683,-0.02,0.977,0.995,12.976,"CaseControl",".","ASD","Targeted",".","."]
[169723,28628100,3,4814521,4814521,"G","A","DeNovo",".",".","3p26.1","exonic","ITPR1",3708,".","nonsynonymous SNV","ITPR1:NM_002222:exon54:c.G7471A:p.G2491R,ITPR1:NM_001099952:exon55:c.G7516A:p.G2506R,ITPR1:NM_001168272:exon57:c.G7615A:p.G2539R","Gillespie syndrome;Spinocerebellar ataxia 15, Autosomal dominant;Spinocerebellar ataxia 29, congenital nonprogressive, Autosomal dominant",".","rs752281590",{"v":8.28e-06,"d":"8.28E-06"},1E-4,0,0,0,0,0,0,".","Pathogenic\\x2cPathogenic","Gillespie_syndrome\\x2cGillespie_syndrome","RCV000224995.2\\x2cRCV000224996.2","SNOMED_CT\\x2cSNOMED_CT","253176002\\x2c253176002",0,"D",1,"D",1,"D",0,"D",1,"D",3.5,"M",-5.15,"D",-3.32,"D",0.856,7.885,35,0.999,0.98,"D",1.062,"D",0.979,"D",0.707,0,4.93,0.917,0.953,0.997,1,18.157,"CaseControl",".","ASD","Targeted",".","."]
[169724,28628100,3,4814521,4814521,"G","A","DeNovo",".",".","3p26.1","exonic","ITPR1",3708,".","nonsynonymous SNV","ITPR1:NM_002222:exon54:c.G7471A:p.G2491R,ITPR1:NM_001099952:exon55:c.G7516A:p.G2506R,ITPR1:NM_001168272:exon57:c.G7615A:p.G2539R","Gillespie syndrome;Spinocerebellar ataxia 15, Autosomal dominant;Spinocerebellar ataxia 29, congenital nonprogressive, Autosomal dominant",".","rs752281590",{"v":8.28e-06,"d":"8.28E-06"},1E-4,0,0,0,0,0,0,".","Pathogenic\\x2cPathogenic","Gillespie_syndrome\\x2cGillespie_syndrome","RCV000224995.2\\x2cRCV000224996.2","SNOMED_CT\\x2cSNOMED_CT","253176002\\x2c253176002",0,"D",1,"D",1,"D",0,"D",1,"D",3.5,"M",-5.15,"D",-3.32,"D",0.856,7.885,35,0.999,0.98,"D",1.062,"D",0.979,"D",0.707,0,4.93,0.917,0.953,0.997,1,18.157,"CaseControl",".","ASD","Targeted",".","."]
[169725,28628100,"X",153932410,153932410,"G","A","DeNovo",".",".","Xq28","exonic","NAA10",8260,".","nonsynonymous SNV","NAA10:NM_001256119:exon5:c.C247T:p.R83C,NAA10:NM_001256120:exon5:c.C229T:p.R77C,NAA10:NM_003491:exon5:c.C247T:p.R83C","Ogden syndrome, X-linked recessive, X-linked dominant",".","rs797044868",".",".",".",".",".",".",".",".",".","Likely pathogenic|Pathogenic|Pathogenic","Inborn_genetic_diseases|N-terminal_acetyltransferase_deficiency|not_provided","RCV000190675.1|RCV000225365.1|RCV000255490.1","MeSH:MedGen|MedGen:OMIM:Orphanet|MedGen","D030342:C0950123|C3275447:300855:ORPHA276432|CN221809",0.016,"D",0.996,"D",0.875,"P",0,"D",1,"D",3.25,"M",0.32,"T",-7.45,"D",0.911,7.08,33,0.999,0.939,"D",-0.011,"T",0.409,"T",".",".",4.14,-0.045,0.953,0.984,0.999,12.884,"CaseControl",".","ASD","Targeted",".","."]
[169726,28628100,"X",153932410,153932410,"G","A","DeNovo",".",".","Xq28","exonic","NAA10",8260,".","nonsynonymous SNV","NAA10:NM_001256119:exon5:c.C247T:p.R83C,NAA10:NM_001256120:exon5:c.C229T:p.R77C,NAA10:NM_003491:exon5:c.C247T:p.R83C","Ogden syndrome, X-linked recessive, X-linked dominant",".","rs797044868",".",".",".",".",".",".",".",".",".","Likely pathogenic|Pathogenic|Pathogenic","Inborn_genetic_diseases|N-terminal_acetyltransferase_deficiency|not_provided","RCV000190675.1|RCV000225365.1|RCV000255490.1","MeSH:MedGen|MedGen:OMIM:Orphanet|MedGen","D030342:C0950123|C3275447:300855:ORPHA276432|CN221809",0.016,"D",0.996,"D",0.875,"P",0,"D",1,"D",3.25,"M",0.32,"T",-7.45,"D",0.911,7.08,33,0.999,0.939,"D",-0.011,"T",0.409,"T",".",".",4.14,-0.045,0.953,0.984,0.999,12.884,"CaseControl",".","ASD","Targeted",".","."]
[169727,28628100,9,2060867,2060867,"C","T","DeNovo",".",".","9p24.3","exonic","SMARCA2",6595,".","nonsynonymous SNV","SMARCA2:NM_001289396:exon9:c.C1573T:p.R525C,SMARCA2:NM_001289397:exon9:c.C1573T:p.R525C,SMARCA2:NM_003070:exon9:c.C1573T:p.R525C,SMARCA2:NM_139045:exon9:c.C1573T:p.R525C","Nicolaides-Baraitser syndrome, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",1,"D",0,"D",1,"D",3.265,"M",-0.82,"T",-6.81,"D",0.898,8.024,35,0.999,0.973,"D",0.523,"D",0.673,"D",0.707,0,5.17,0.871,0.852,0.994,0.997,18.877,"CaseControl",".","ASD","Targeted",".","."]
[169728,28628100,9,2060868,2060868,"G","A","DeNovo",".",".","9p24.3","exonic","SMARCA2",6595,".","nonsynonymous SNV","SMARCA2:NM_001289396:exon9:c.G1574A:p.R525H,SMARCA2:NM_001289397:exon9:c.G1574A:p.R525H,SMARCA2:NM_003070:exon9:c.G1574A:p.R525H,SMARCA2:NM_139045:exon9:c.G1574A:p.R525H","Nicolaides-Baraitser syndrome, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",0.999,"D",0,"D",1,"D",3.265,"M",-0.81,"T",-4.29,"D",0.854,7.224,34,0.999,0.99,"D",0.502,"D",0.671,"D",0.707,0,5.17,0.917,0.953,0.991,0.996,18.877,"CaseControl",".","ASD","Targeted",".","."]
[169729,22495306,10,106688206,106688206,"C","T","DeNovo",".",".","10q25.1","exonic","SORCS1",114815,".","nonsynonymous SNV","SORCS1:NM_001013031:exon10:c.G1546A:p.V516M,SORCS1:NM_001206569:exon10:c.G1546A:p.V516M,SORCS1:NM_001206570:exon10:c.G1546A:p.V516M,SORCS1:NM_001206571:exon10:c.G1546A:p.V516M,SORCS1:NM_001206572:exon10:c.G1546A:p.V516M,SORCS1:NM_052918:exon10:c.G1546A:p.V516M",".",".","rs369987397",{"v":1.66E-5,"d":"1.66E-05"},0,0,0,0,{"v":3.01E-5,"d":"3.01E-05"},0,0,".",".",".",".",".",".",0.013,"D",0.982,"D",0.866,"P",0,"D",0.989,"D",1.01,"L",1.17,"T",-1.6,"N",0.449,4.248,23.9,0.999,0.171,"N",-1.051,"T",0.12,"T",0.638,0,6.17,0.871,0.935,0.998,0.951,10.313,"FamilyBased",".","ASD","WES",".","."]
[169730,22495306,5,13883014,13883014,"C","T","DeNovo",".",".","5p15.2","exonic","DNAH5",1767,".","nonsynonymous SNV","DNAH5:NM_001369:exon20:c.G3064A:p.V1022I","Ciliary dyskinesia, primary, 3, with or without situs inversus","ID=COSM181330;OCCURENCE=1(large_intestine)","rs375218798",{"v":3.3e-05,"d":"3.30E-05"},0.0002,0,0.0002,0,0,0,0,0.000399361,".",".",".",".",".",0.152,"T",1E-3,"B",0.003,"B",0.346,"N",1,"N",1.34,"L",1.87,"T",-0.81,"N",0.083,0.155,4.201,0.77,0.034,"N",-1.063,"T",0.035,"T",0.554,0,-9.3,-0.782,-1.63,0.359,0.008,8.175,"FamilyBased",".","ASD","WES",".","."]
[169732,22495306,5,93593781,93593781,"G","A","DeNovo",".",".","5q15","exonic","NR2F1",7025,".","nonsynonymous SNV","NR2F1:NM_005654:exon3:c.G1211A:p.R404H","Bosch-Boonstra-Schaaf optic atrophy syndrome, Autosomal dominant","ID=COSM3381322;OCCURENCE=1(pancreas)",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.033,"D",1,"D",0.987,"D",0,"D",1,"D",2.48,"M",0.68,"T",-3.43,"D",0.809,6.974,33,0.999,0.988,"D",-0.394,"T",0.353,"T",0.765,0,6.17,0.917,1.048,0.994,0.988,20.49,"FamilyBased",".","ASD","WES",".","."]
[169733,22495306,2,85302604,85302604,"G","T","DeNovo",".",".","2p11.2","exonic","TCF7L1",83439,".","nonsynonymous SNV","TCF7L1:NM_031283:exon5:c.G646T:p.D216Y",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1E-3,"D",0.985,"D",0.905,"P",0,"D",1,"D",2.36,"M",-5.31,"D",-5.17,"D",0.829,7.034,33,0.996,0.962,"D",1.088,"D",0.968,"D",0.732,0,4.53,0.917,0.953,1,0.99,14.812,"FamilyBased",".","ASD","WES",".","."]
[169735,22495306,14,21360512,21360512,"C","T","DeNovo",".",".","14q11.2","exonic","SUPT16H",11198,".","nonsynonymous SNV","SUPT16H:NM_007192:exon18:c.G2078A:p.R693Q",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.004,"D",1,"D",0.976,"D",0,"D",1,"D",2.575,"M",".",".",-3.5,"D",0.375,8.048,35,1,0.978,"D",-0.077,"T",0.506,"D",0.707,0,5.59,0.871,0.935,1,1,18.377,"FamilyBased",".","ASD","WES",".","."]
[169737,22495306,9,712508,712508,"G","A","DeNovo",".",".","9p24.3","exonic","KANK1",23189,".","nonsynonymous SNV","KANK1:NM_153186:exon2:c.G1268A:p.C423Y,KANK1:NM_015158:exon3:c.G1742A:p.C581Y,KANK1:NM_001256877:exon4:c.G1742A:p.C581Y,KANK1:NM_001256876:exon7:c.G1742A:p.C581Y","Cerebral palsy, spastic quadriplegic, 2",".","rs757723877",{"v":8.24e-06,"d":"8.24E-06"},0,0,0,0,{"v":1.5E-5,"d":"1.50E-05"},0,0,".",".",".",".",".",".",0.003,"D",0.996,"D",0.935,"D",0.03,"N",0.985,"D",2.135,"M",0.87,"T",-3.94,"D",0.57,3.236,22.8,0.972,0.972,"D",-0.541,"T",0.301,"T",0.706,0,5.76,0.917,0.135,0.01,1E-3,19.557,"FamilyBased",".","ASD","WES",".","."]
[169738,22495306,11,63409852,63409852,"C","T","DeNovo",".",".","11q12.3","exonic","SLC22A9",114571,".","nonsynonymous SNV","SLC22A9:NM_080866:exon10:c.C1652T:p.T551M",".",".","rs142543443",1E-4,0,0.0003,1E-4,0,1E-4,0,0.0004,1.99681E-4,".",".",".",".",".",0,"D",1,"D",1,"D",0.351,"N",1,"N",2.85,"M",-0.19,"T",-3.1,"D",0.368,4.367,24.1,0.997,0.067,"N",-0.772,"T",0.473,"T",0.487,0,1.85,-0.064,-0.08,0.011,0.008,7.098,"FamilyBased",".","ASD","WES",".","."]
[169739,22495306,18,54597936,54597936,"G","T","DeNovo",".",".","18q21.2","exonic","DYNAP",284254,".","nonsynonymous SNV","DYNAP:NM_001307955:exon3:c.G268T:p.A90S,DYNAP:NM_173629:exon3:c.G424T:p.A142S",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.203,"T",0.003,"B",1E-3,"B",0.223,"N",1,"N",1.1,"L",1.8,"T",0.81,"N",0.096,-1.674,2E-3,0.142,0.067,"N",-1.04,"T",0.036,"T",0.554,0,-3.94,-0.084,-0.025,0,0,2.04,"FamilyBased",".","ASD","WES",".","."]
[169740,22495306,10,68574221,68574221,"A","G","DeNovo",".",".","10q21.3","exonic","TET1",80312,".","nonsynonymous SNV","TET1:NM_030625:exon2:c.A1883G:p.K628R",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.013,"D",0.991,"D",0.813,"P",0.007,"N",0.952,"N",1.59,"L",2.92,"T",-1.56,"N",0.279,3.638,23.2,0.998,0.876,"D",-1.111,"T",0.047,"T",0.461,0,4.04,1.062,1.088,1,1,9.43,"FamilyBased",".","ASD","WES",".","."]
[169741,22495306,10,5921507,5921507,"G","A","DeNovo",".",".","10p15.1","exonic","FBXO18",84893,".","nonsynonymous SNV","FBXO18:NM_001258452:exon15:c.G2038A:p.V680M,FBXO18:NM_178150:exon15:c.G2260A:p.V754M,FBXO18:NM_001258453:exon16:c.G2038A:p.V680M,FBXO18:NM_032807:exon16:c.G2413A:p.V805M",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.004,"D",1,"D",0.982,"D",0,"D",1,"D",2.175,"M",-1.68,"D",-1.46,"N",0.763,6.751,32,0.999,0.961,"D",0.419,"D",0.678,"D",0.707,0,5.83,0.917,1.048,0.999,0.996,12.982,"FamilyBased",".","ASD","WES",".","."]
[169742,22495306,9,136741882,136741882,"G","A","DeNovo",".",".","9q34.3","exonic","LCN10",414332,".","nonsynonymous SNV","LCN10:NM_001001712:exon2:c.C256T:p.R86W",".",".","rs547277847",{"v":3.43E-5,"d":"3.43E-05"},0.0002,0.0002,0,0,0,0,0,1.99681E-4,".",".",".",".",".",0.008,"D",1,"D",0.998,"D",0.048,"N",0.999,"N",".",".",2.64,"T",-4.66,"D",0.481,5.984,27.8,0.96,0.059,"N",-1.076,"T",0.079,"T",0.609,0,-0.798,-0.837,0.07,0.005,0.482,10.945,"FamilyBased",".","ASD","WES",".","."]
[169743,22495306,12,223197,223197,"G","A","DeNovo",".",".","12p13.33","exonic","SLC6A13",6540,".","nonsynonymous SNV","SLC6A13:NM_001190997:exon10:c.C1073T:p.A358V,SLC6A13:NM_016615:exon12:c.C1349T:p.A450V",".","ID=COSM1266002;OCCURENCE=1(oesophagus)","rs756578408",{"v":1.65e-05,"d":"1.65E-05"},{"v":9.65e-05,"d":"9.65E-05"},0,0,0,{"v":1.5E-5,"d":"1.50E-05"},0,0,".",".",".",".",".",".",0.08,"T",0.987,"D",0.895,"P",0,"D",1,"D",1.845,"L",-1.03,"T",-2.48,"N",0.767,4.453,24.2,0.999,0.992,"D",0.198,"D",0.56,"D",0.516,0,4.8,0.917,0.953,0.974,0.685,17.857,"FamilyBased",".","ASD","WES",".","."]
[169745,22495306,2,33347419,33347419,"A","C","DeNovo",".",".","2p22.3","exonic","LTBP1",4052,".","nonsynonymous SNV","LTBP1:NM_001166264:exon21:c.A2805C:p.E935D,LTBP1:NM_001166266:exon21:c.A2646C:p.E882D,LTBP1:NM_000627:exon22:c.A2931C:p.E977D,LTBP1:NM_001166265:exon22:c.A2772C:p.E924D,LTBP1:NM_206943:exon26:c.A3909C:p.E1303D",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.292,"T",1,"D",0.997,"D",".",".",0.998,"D",2.67,"M",-1.54,"D",-2.49,"N",0.766,3.886,23.5,0.998,0.896,"D",0.621,"D",0.838,"D",0.706,0,-0.548,1.062,0.058,1,0.998,9.106,"FamilyBased",".","ASD","WES",".","."]
[169746,22495306,20,45953869,45953869,"G","A","DeNovo",".",".","20q13.12","exonic","ZNF335",63925,".","nonsynonymous SNV","ZNF335:NM_022095:exon18:c.C2522T:p.P841L",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.006,"D",0.09,"B",0.037,"B",0,"D",0.938,"D",0.695,"N",3.16,"T",-0.09,"N",0.392,3.095,22.5,0.997,0.601,"D",-0.995,"T",0.017,"T",0.672,0,4.3,0.917,1.048,0.973,0.928,12.988,"FamilyBased",".","ASD","WES",".","."]
[169747,22495306,22,49774277,49774277,"G","A","DeNovo",".",".","22q13.33","exonic","BRD1",23774,".","nonsynonymous SNV","BRD1:NM_001349941:exon12:c.C3511T:p.R1171C,BRD1:NM_001304808:exon13:c.C3526T:p.R1176C,BRD1:NM_001304809:exon13:c.C3133T:p.R1045C,BRD1:NM_001349940:exon13:c.C3280T:p.R1094C,BRD1:NM_001349942:exon13:c.C1984T:p.R662C",".",".","rs773212689",{"v":2.47e-05,"d":"2.47E-05"},0,0.0002,0,0,{"v":1.5E-5,"d":"1.50E-05"},0,0,".",".",".",".",".",".",1E-3,"D",0.999,"D",0.604,"P",0,"D",1,"D",1.75,"L",2.42,"T",-4.28,"D",0.405,6.478,30,0.996,0.88,"D",-1.044,"T",0.086,"T",0.707,0,2.64,0.917,0.14,0.994,0.701,8.344,"FamilyBased",".","ASD","WES",".","."]
[169749,22495306,6,31970410,31970410,"C","T","DeNovo",".",".","6p21.33","exonic","DXO",1797,".","nonsynonymous SNV","DXO:NM_005510:exon5:c.G881A:p.R294H",".",".","rs200784745",{"v":3.3e-05,"d":"3.30E-05"},0,{"v":8.64e-05,"d":"8.64E-05"},0,0.0003,{"v":1.5E-5,"d":"1.50E-05"},0,0,".",".",".",".",".",".",0,"D",1,"D",0.998,"D",0,"D",1,"D",3.025,"M",-0.49,"T",-4.45,"D",0.873,6.967,33,0.999,0.829,"D",0.229,"D",0.549,"D",0.722,0,5.02,0.871,0.852,0.994,0.999,17.109,"FamilyBased",".","ASD","WES",".","."]
[169750,22495306,7,103374495,103374495,"G","C","DeNovo",".",".","7q22.1","exonic","SLC26A5",375611,".","nonsynonymous SNV","SLC26A5:NM_001167962:exon19:c.C2043G:p.S681R,SLC26A5:NM_198999:exon20:c.C2139G:p.S713R",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.249,"T",0.898,"P",0.282,"B",0,"D",1,"D",0,"N",-3.09,"D",-1.3,"N",0.5,2.054,16.56,0.989,0.931,"D",-0.111,"T",0.578,"D",0.554,0,2.66,-0.045,0.898,0.212,0.937,5.696,"FamilyBased",".","ASD","WES",".","."]
[169751,22495306,15,91281783,91281783,"T","A","DeNovo",".",".","15q26.1","exonic","SV2B",9899,".","nonsynonymous SNV","SV2B:NM_001323033:exon8:c.T1096A:p.C366S,SV2B:NM_001167580:exon9:c.T976A:p.C326S,SV2B:NM_001323036:exon9:c.T1000A:p.C334S,SV2B:NM_001323031:exon10:c.T1429A:p.C477S,SV2B:NM_001323032:exon10:c.T1429A:p.C477S,SV2B:NM_001323034:exon10:c.T1429A:p.C477S,SV2B:NM_001323038:exon10:c.T1429A:p.C477S,SV2B:NM_001323039:exon10:c.T1429A:p.C477S,SV2B:NM_001323040:exon10:c.T976A:p.C326S,SV2B:NM_001323037:exon11:c.T1429A:p.C477S,SV2B:NM_014848:exon11:c.T1429A:p.C477S",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.066,"T",1,"D",1,"D",0,"D",1,"D",2.18,"M",0.79,"T",-3.96,"D",0.91,5.072,25.3,0.994,0.993,"D",-0.569,"T",0.288,"T",0.624,0,5.72,0.991,1.011,0.997,0.996,14.867,"FamilyBased",".","ASD","WES",".","."]
[169752,22495306,3,136989446,136989446,"C","G","DeNovo",".",".","3q22.3","exonic","IL20RB",53833,".","nonsynonymous SNV","IL20RB:NM_144717:exon4:c.C412G:p.L138V",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.048,"D",0.957,"D",0.806,"P",0,"D",0.991,"D",1.04,"L",0.66,"T",-1.14,"N",0.564,5.646,26.6,0.998,0.875,"D",-0.299,"T",0.415,"T",0.615,0,4.63,0.871,0.935,0.937,0.997,12.837,"FamilyBased",".","ASD","WES",".","."]
[169754,22495306,8,131970497,131970497,"T","C","DeNovo",".",".","8q24.22","exonic","EFR3A",23167,".","nonsynonymous SNV","EFR3A:NM_001323553:exon10:c.T905C:p.F302S,EFR3A:NM_001323554:exon10:c.T905C:p.F302S,EFR3A:NM_001323555:exon10:c.T905C:p.F302S,EFR3A:NM_001323556:exon10:c.T905C:p.F302S,EFR3A:NM_001323557:exon10:c.T905C:p.F302S,EFR3A:NM_001323558:exon10:c.T1013C:p.F338S,EFR3A:NM_015137:exon10:c.T1013C:p.F338S",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.003,"D",1,"D",0.988,"D",0,"D",1,"D",2.465,"M",3.49,"T",-5.61,"D",0.995,6.565,31,0.999,0.99,"D",0.086,"D",0.498,"T",0.745,0,5.54,0.991,1.011,0.996,0.979,14.86,"FamilyBased",".","ASD","WES",".","."]
[169755,22495306,"X",41665396,41665396,"C","T","DeNovo",".",".","Xp11.4","exonic","CASK",8573,".","nonsynonymous SNV","CASK:NM_001126054:exon7:c.G589A:p.G197R,CASK:NM_001126055:exon7:c.G589A:p.G197R,CASK:NM_003688:exon7:c.G589A:p.G197R","FG syndrome 4;Mental retardation and microcephaly with pontine and cerebellar hypoplasia, X-linked dominant;Mental retardation, with or without nystagmus",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1E-3,"D",1,"D",1,"D",0,"D",1,"D",2.875,"M",0.58,"T",-4.91,"D",0.903,7.322,34,0.999,0.975,"D",-0.078,"T",0.42,"T",".",".",5.73,0.871,0.935,0.992,0.994,18.919,"FamilyBased",".","ASD","WES",".","."]
[169757,22495306,3,43348247,43348247,"A","G","DeNovo",".",".","3p22.1","exonic","SNRK",54861,".","nonsynonymous SNV","SNRK:NM_001330750:exon5:c.A1370G:p.K457R,SNRK:NM_001100594:exon6:c.A1988G:p.K663R,SNRK:NM_017719:exon7:c.A1988G:p.K663R",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.1,"T",0,"B",1E-3,"B",0.014,"N",1,"N",0.6,"N",2.62,"T",-0.41,"N",0.069,-1.625,2E-3,0.847,0.42,"N",-1.011,"T",0.112,"T",0.672,0,-3.79,0.722,1.088,0.892,0.967,8.158,"FamilyBased",".","ASD","WES",".","."]
[169758,22495306,4,72128774,72128774,"G","A","DeNovo",".",".","4q13.3","exonic","NPFFR2",10886,".","nonsynonymous SNV","NPFFR2:NM_004885:exon2:c.G489A:p.M163I,NPFFR2:NM_053036:exon2:c.G183A:p.M61I,NPFFR2:NM_001144756:exon3:c.G192A:p.M64I",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.562,"T",1E-3,"B",2E-3,"B",0.006,"N",1,"D",-0.145,"N",1.37,"T",1.14,"N",0.172,1.498,13.3,0.931,0.75,"D",-1.019,"T",0.037,"T",0.487,0,5.05,0.917,1.048,0.997,0.999,7.21,"FamilyBased",".","ASD","WES",".","."]
[169759,22495306,11,47282451,47282451,"C","T","DeNovo",".",".","11p11.2","exonic","MADD",8567,".","nonsynonymous SNV","MADD:NM_001135943:exon9:c.C1540T:p.R514C,MADD:NM_001135944:exon9:c.C1540T:p.R514C,MADD:NM_003682:exon9:c.C1540T:p.R514C,MADD:NM_130470:exon9:c.C1540T:p.R514C,MADD:NM_130471:exon9:c.C1540T:p.R514C,MADD:NM_130472:exon9:c.C1540T:p.R514C,MADD:NM_130473:exon9:c.C1540T:p.R514C,MADD:NM_130474:exon9:c.C1540T:p.R514C,MADD:NM_130475:exon9:c.C1540T:p.R514C,MADD:NM_130476:exon9:c.C1540T:p.R514C",".","ID=COSM189876;OCCURENCE=2(large_intestine)",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",1,"D",0,"D",1,"D",2.11,"M",0.8,"T",-7.66,"D",0.959,7.674,35,0.999,0.956,"D",-0.433,"T",0.291,"T",0.707,0,4.78,0.871,0.935,0.996,0.998,16.334,"FamilyBased",".","ASD","WES",".","."]
[169760,22495306,14,74675817,74675817,"G","A","DeNovo",".",".","14q24.3","exonic","AREL1",9870,".","nonsynonymous SNV","AREL1:NM_001039479:exon8:c.C962T:p.S321F",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.154,"T",0.815,"P",0.295,"B",0,"D",1,"D",1.1,"L",0.6,"T",-0.61,"N",0.493,2.02,16.34,0.998,0.983,"D",-0.972,"T",0.139,"T",0.719,0,5.6,0.917,0.998,1,0.998,19.634,"FamilyBased",".","ASD","WES",".","."]
[169763,22495306,3,7578771,7578771,"G","A","DeNovo",".",".","3p26.1","exonic","GRM7",2917,".","nonsynonymous SNV","GRM7:NM_000844:exon8:c.G1865A:p.R622Q,GRM7:NM_181874:exon8:c.G1865A:p.R622Q",".",".","rs775656438",{"v":8.24e-06,"d":"8.24E-06"},{"v":9.61e-05,"d":"9.61E-05"},0,0,0,0,0,0,".",".",".",".",".",".",0.004,"D",0.999,"D",0.994,"D",0,"D",1,"D",2.93,"M",-2.47,"D",-2.53,"D",0.897,6.466,29.9,1,0.991,"D",0.873,"D",0.855,"D",0.554,0,5.93,0.917,1.048,1,0.832,18.918,"FamilyBased",".","ASD","WES",".","."]
[169764,22495306,6,135186013,135186013,"G","A","DeNovo",".",".","6q23.3","exonic","MYB",4602,".","nonsynonymous SNV","MYB:NM_001130172:exon2:c.G134A:p.R45Q,MYB:NM_001130173:exon2:c.G134A:p.R45Q,MYB:NM_001161656:exon2:c.G134A:p.R45Q,MYB:NM_001161657:exon2:c.G134A:p.R45Q,MYB:NM_001161658:exon2:c.G134A:p.R45Q,MYB:NM_001161659:exon2:c.G134A:p.R45Q,MYB:NM_001161660:exon2:c.G134A:p.R45Q,MYB:NM_005375:exon2:c.G134A:p.R45Q",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.123,"T",0.999,"D",0.985,"D",0,"D",1,"D",-0.205,"N",2.72,"T",-2.66,"D",0.76,6.931,33,0.999,0.99,"D",-0.903,"T",0.063,"T",0.66,0,5.14,0.917,1.045,0.991,0.997,18.971,"FamilyBased",".","ASD","WES",".","."]
[169765,22495306,11,111755330,111755330,"G","A","DeNovo",".",".","11q23.1","exonic","PPP2R1B",5519,".","nonsynonymous SNV","PPP2R1B:NM_001177563:exon4:c.C427T:p.R143C,PPP2R1B:NM_181700:exon4:c.C616T:p.R206C,PPP2R1B:NM_001177562:exon6:c.C808T:p.R270C,PPP2R1B:NM_002716:exon6:c.C808T:p.R270C,PPP2R1B:NM_181699:exon6:c.C808T:p.R270C","Lung cancer, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1E-3,"D",1,"D",0.999,"D",0,"D",1,"D",3.98,"H",3.29,"T",-7.69,"D",0.936,7.045,33,0.999,0.829,"D",-0.355,"T",0.317,"T",0.707,0,3.76,-0.033,0.097,0.984,0.996,8.819,"FamilyBased",".","ASD","WES",".","."]
[169766,22495306,15,34228531,34228531,"C","G","DeNovo",".",".","15q14","exonic","EMC4",51234,".","nonsynonymous SNV","EMC4:NM_001351373:exon4:c.C215G:p.S72C,EMC4:NM_016454:exon4:c.C458G:p.S153C",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",2E-3,"D",1,"D",0.99,"D",0,"D",1,"D",2.61,"M",0.78,"T",-4.07,"D",0.808,6.076,28.1,0.991,0.987,"D",-0.343,"T",0.354,"T",0.707,0,5.99,0.871,0.935,0.999,1,19.312,"FamilyBased",".","ASD","WES",".","."]
[169767,22495306,3,100752799,100752799,"C","T","DeNovo",".",".","3q12.2","exonic","ABI3BP",25890,".","nonsynonymous SNV","ABI3BP:NM_015429:exon33:c.G2977A:p.D993N,ABI3BP:NM_001349332:exon34:c.G3052A:p.D1018N,ABI3BP:NM_001349331:exon41:c.G3439A:p.D1147N,ABI3BP:NM_001349330:exon60:c.G4708A:p.D1570N,ABI3BP:NM_001349329:exon63:c.G4918A:p.D1640N",".",".","rs369382402",{"v":5.83e-05,"d":"5.83E-05"},0,{"v":8.71e-05,"d":"8.71E-05"},1E-4,0,{"v":4.52e-05,"d":"4.52E-05"},0,1E-4,".",".",".",".",".",".",0.019,"D",1,"D",0.998,"D",0,"D",1,"D",2.11,"M",0.35,"T",-4.21,"D",0.33,7.94,35,0.999,0.929,"D",-0.39,"T",0.36,"T",0.672,0,6.02,0.871,0.935,0.995,0.99,20.547,"FamilyBased",".","ASD","WES",".","."]
[169768,22495306,5,90653471,90653471,"G","A","DeNovo",".",".","5q14.3","exonic","ADGRV1",84059,".","nonsynonymous SNV","ADGRV1:NM_032119:exon20:c.G3897A:p.M1299I","Usher syndrome, type 2C, Autosomal recessive, Digenic dominant;Usher syndrome, type 2C, GPR98/PDZD7 digenic, Autosomal recessive, Digenic dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.023,"D",0.209,"B",0.051,"B",0,"D",1,"D",1.955,"M",1.63,"T",-1.69,"N",0.228,3.309,22.9,0.993,0.98,"D",-1.077,"T",0.076,"T",0.706,0,3.76,0.917,1.048,0.933,0.994,12.067,"FamilyBased",".","ASD","WES",".","."]
[169769,22495306,10,110599798,110599798,"C","T","DeNovo",".",".","10q25.2","exonic","SMC3",9126,".","nonsynonymous SNV","SMC3:NM_005445:exon21:c.C2413T:p.R805C","Cornelia de Lange syndrome 3, Autosomal dominant",".","rs760111391",{"v":8.25e-06,"d":"8.25E-06"},0,0,0,0,{"v":1.5E-5,"d":"1.50E-05"},0,0,".",".",".",".",".",".",1E-3,"D",1,"D",0.955,"D",0,"D",1,"D",2.255,"M",-1.08,"T",-4.39,"D",0.805,7.597,34,0.999,0.955,"D",0.252,"D",0.606,"D",0.707,0,5.56,0.871,0.892,0.953,0.996,15.887,"FamilyBased",".","ASD","WES",".","."]
[169770,22495306,11,68171572,68171572,"C","G","DeNovo",".",".","11q13.2","exonic","KMT5B",51111,".","nonsynonymous SNV","KMT5B:NM_001300909:exon6:c.G722C:p.W241S,KMT5B:NM_001300908:exon7:c.G71C:p.W24S,KMT5B:NM_016028:exon7:c.G791C:p.W264S,KMT5B:NM_017635:exon7:c.G791C:p.W264S,KMT5B:NM_001300907:exon8:c.G275C:p.W92S",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",0.998,"D",0,"D",1,"D",1.605,"L",-1.41,"T",-13.32,"D",0.957,6.686,32,0.991,0.992,"D",0.274,"D",0.635,"D",0.707,0,5.73,0.871,0.935,0.999,0.989,20.27,"FamilyBased",".","ASD","WES",".","."]
[169772,22495306,16,85657472,85657472,"G","A","DeNovo",".",".","16q24.1","exonic","GSE1",23199,".","nonsynonymous SNV","GSE1:NM_001134473:exon7:c.G1196A:p.R399Q,GSE1:NM_001278184:exon7:c.G1289A:p.R430Q,GSE1:NM_014615:exon8:c.G1508A:p.R503Q",".","ID=COSM1609736;OCCURENCE=2(liver)","rs61743093",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.403,"T",1,"D",0.929,"D",0,"D",0.996,"D",1.5,"L",-0.48,"T",-0.19,"N",0.401,5.426,26.1,0.999,0.848,"D",-0.415,"T",0.42,"T",0.672,0,5.07,0.917,0.974,0.95,0.999,18.426,"FamilyBased",".","ASD","WES",".","."]
[169773,22495306,10,60074069,60074069,"A","G","DeNovo",".",".","10q21.2","exonic","ANK3",288,".","nonsynonymous SNV","ANK3:NM_020987:exon37:c.T6812C:p.M2271T",".",".","rs746178496",{"v":8.24e-06,"d":"8.24E-06"},0,0,0,0,{"v":1.5E-5,"d":"1.50E-05"},0,0,".",".",".",".",".",".",0,"D",0.956,"P",0.549,"P",0,"D",1,"D",1.955,"M",-0.83,"T",-4.14,"D",0.797,3.12,22.6,0.974,0.995,"D",-0.3,"T",0.404,"T",0.487,0,5.92,1.062,1.187,1,1,16.361,"FamilyBased",".","ASD","WES",".","."]
[169774,22495306,3,98087836,98087836,"C","T","DeNovo",".",".","3q11.2","exonic","OR5AC2",81050,".","nonsynonymous SNV","OR5AC2:NM_054106:exon1:c.C664T:p.R222C",".",".","rs371257050",{"v":4.18E-5,"d":"4.18E-05"},0,0,0.0004,0,{"v":1.52E-5,"d":"1.52E-05"},0,{"v":6.13e-05,"d":"6.13E-05"},".",".",".",".",".",".",0.68,"T",0.007,"B",0.013,"B",0.082,"U",1,"N",-0.49,"N",8.73,"T",0.75,"N",0.103,1.806,15.02,0.486,0.003,"N",-0.959,"T",0,"T",0.487,0,-8.07,-0.794,-2.018,0.009,0,14.338,"FamilyBased",".","ASD","WES",".","."]
[169775,22495306,6,89692628,89692628,"G","C","DeNovo",".",".","6q15","exonic","MDN1",23195,".","nonsynonymous SNV","MDN1:NM_014611:exon63:c.C10402G:p.L3468V",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.269,"T",0.908,"P",0.368,"B",0,"D",1,"D",2.19,"M",3.81,"T",-1.56,"N",0.234,1.569,13.68,0.989,0.954,"D",-0.876,"T",0.009,"T",0.646,0,3.51,0.917,0.135,0.083,0.273,10.378,"FamilyBased",".","ASD","WES",".","."]
[169777,22495306,4,40760454,40760454,"A","C","DeNovo",".",".","4p14","exonic","NSUN7",79730,".","nonsynonymous SNV","NSUN7:NM_001330648:exon3:c.A319C:p.I107L,NSUN7:NM_024677:exon3:c.A319C:p.I107L",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.212,"T",0.298,"B",0.094,"B",1E-3,"D",0.991,"D",1.67,"L",0.8,"T",-0.75,"N",0.335,3.342,22.9,0.982,0.976,"D",-0.972,"T",0.129,"T",0.706,0,5.68,1.003,1.088,0.997,0.998,15.213,"FamilyBased",".","ASD","WES",".","."]
[169780,22495306,12,49185848,49185848,"G","A","DeNovo",".",".","12q13.12","exonic","TUBA1A",7846,".","nonsynonymous SNV","TUBA1A:NM_001270399:exon4:c.C518T:p.P173L,TUBA1A:NM_001270400:exon4:c.C413T:p.P138L,TUBA1A:NM_006009:exon4:c.C518T:p.P173L","Lissencephaly 3, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",1,"D",0,"D",1,"D",4.605,"H",-2.56,"D",-6.81,"D",0.96,5.87,27.4,0.994,0.982,"D",0.778,"D",0.695,"D",0.722,0,5.25,0.917,0.952,0.998,0.975,17.626,"FamilyBased",".","ASD","WES",".","."]
[169781,22495306,11,68158808,68158808,"G","A","DeNovo",".",".","11q13.2","exonic","KMT5B",51111,".","nonsynonymous SNV","KMT5B:NM_001300908:exon11:c.C818T:p.A273V,KMT5B:NM_017635:exon11:c.C1538T:p.A513V,KMT5B:NM_001300907:exon12:c.C1022T:p.A341V",".",".","rs377163167",{"v":1.65e-05,"d":"1.65E-05"},{"v":9.8e-05,"d":"9.80E-05"},0,0,0,{"v":1.5E-5,"d":"1.50E-05"},0,0,".",".",".",".",".",".",0.004,"D",1,"D",0.986,"D",0,"D",1,"D",0.975,"L",0.36,"T",-0.7,"N",0.694,5.808,27.1,0.999,0.995,"D",-0.612,"T",0.26,"T",0.651,0,5.2,0.917,0.923,0.97,0.933,18.93,"FamilyBased",".","ASD","WES",".","."]
[169782,22495306,2,232531616,232531616,"G","A","DeNovo",".",".","2q37.1","exonic","CHRND",1144,".","nonsynonymous SNV","CHRND:NM_001311195:exon7:c.G425A:p.R142Q,CHRND:NM_001256657:exon8:c.G962A:p.R321Q,CHRND:NM_000751:exon9:c.G1007A:p.R336Q,CHRND:NM_001311196:exon9:c.G704A:p.R235Q","Multiple pterygium syndrome, lethal type, Autosomal recessive;Myasthenic syndrome, congenital, 3B, fast-channel, Autosomal recessive",".","rs375623674",{"v":4.12e-05,"d":"4.12E-05"},0,0,1E-4,0,{"v":6e-05,"d":"6.00E-05"},0,0,".",".",".",".",".",".",0,"D",1,"D",0.999,"D",0,"D",1,"D",3.485,"M",-2.32,"D",-3.97,"D",0.89,7.524,34,1,0.995,"D",0.882,"D",0.86,"D",0.403,0,6.08,0.917,1.045,0.943,0.973,20.663,"FamilyBased",".","ASD","WES",".","."]
[169783,22495306,1,35901517,35901517,"C","T","DeNovo",".",".","1p34.3","exonic","AGO1",26523,".","nonsynonymous SNV","AGO1:NM_001317123:exon9:c.C839T:p.T280I,AGO1:NM_012199:exon9:c.C1064T:p.T355I",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1E-3,"D",0.983,"D",0.973,"D",0,"D",1,"D",3.535,"H",2.6,"T",-5.06,"D",0.871,6.196,28.7,0.999,0.99,"D",-0.63,"T",0.153,"T",0.707,0,5.05,0.871,0.935,0.998,0.984,15.136,"FamilyBased",".","ASD","WES",".","."]
[169784,22495306,17,28634769,28634769,"G","A","DeNovo",".",".","17q11.2","exonic","KIAA0100",9703,".","nonsynonymous SNV","KIAA0100:NM_001321560:exon16:c.C2818T:p.R940C,KIAA0100:NM_014680:exon16:c.C2818T:p.R940C",".","ID=COSM183603;OCCURENCE=1(large_intestine)","rs117034424",0.0005,0,1E-3,0,0.0003,0.0008,0,0,1.99681E-4,".",".",".",".",".",1E-3,"D",0.926,"P",0.306,"B",0,"D",1,"D",1.24,"L",1.85,"T",-4.9,"D",0.443,4.869,24.9,0.998,0.842,"D",-1.133,"T",0.054,"T",0.719,0,5.9,0.917,1.048,0.997,0.998,13.196,"FamilyBased",".","ASD","WES",".","."]
[169785,22495306,2,24295726,24295726,"C","T","DeNovo",".",".","2p23.3","exonic","ITSN2",50618,".","nonsynonymous SNV","ITSN2:NM_001348182:exon14:c.G1573A:p.V525I,ITSN2:NM_001348183:exon14:c.G1573A:p.V525I,ITSN2:NM_001348185:exon14:c.G1573A:p.V525I,ITSN2:NM_001348186:exon14:c.G1573A:p.V525I,ITSN2:NM_006277:exon14:c.G1573A:p.V525I,ITSN2:NM_019595:exon14:c.G1573A:p.V525I,ITSN2:NM_147152:exon14:c.G1573A:p.V525I,ITSN2:NM_001348181:exon15:c.G1531A:p.V511I,ITSN2:NM_001348184:exon15:c.G1531A:p.V511I",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.143,"T",0.228,"B",0.083,"B",0.122,"U",0.996,"N",0,"N",0.78,"T",-0.26,"N",0.089,2.781,21.3,0.969,0.866,"D",-0.852,"T",0.234,"T",0.707,0,5.09,-0.024,0.935,0.551,0.997,8.908,"FamilyBased",".","ASD","WES",".","."]
[169786,22495306,2,70165129,70165129,"T","C","DeNovo",".",".","2p13.3","exonic","C2orf42",54980,".","nonsynonymous SNV","C2orf42:NM_001348762:exon7:c.A1316G:p.N439S,C2orf42:NM_001348758:exon8:c.A1316G:p.N439S,C2orf42:NM_001348759:exon8:c.A1316G:p.N439S,C2orf42:NM_001348760:exon8:c.A1316G:p.N439S,C2orf42:NM_001348761:exon8:c.A1316G:p.N439S,C2orf42:NM_001348763:exon8:c.A1316G:p.N439S,C2orf42:NM_001348764:exon8:c.A1316G:p.N439S,C2orf42:NM_017880:exon8:c.A1316G:p.N439S",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.119,"T",0.009,"B",0.007,"B",0,"D",0.612,"N",0.345,"N",-3.07,"D",-1.46,"N",0.078,1.287,12.2,0.977,0.893,"D",-0.202,"T",0.515,"D",0.651,0,4.89,0.991,1.061,1,1,6.899,"FamilyBased",".","ASD","WES",".","."]
[169788,22495306,22,19139946,19139946,"T","C","DeNovo",".",".","22q11.21","exonic","DGCR14",8220,".","nonsynonymous SNV","DGCR14:NM_022719:exon4:c.A479G:p.N160S",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",0.998,"D",0,"D",1,"D",3.12,"M",-0.49,"T",-4.6,"D",0.496,5.34,25.8,0.999,0.953,"D",0.366,"D",0.591,"D",0.737,0,4.85,0.991,1.061,1,1,14.261,"FamilyBased",".","ASD","WES",".","."]
[169789,22495306,22,36288785,36288785,"C","T","DeNovo",".",".","22q12.3","exonic","MYH9",4627,".","nonsynonymous SNV","MYH9:NM_002473:exon33:c.G4712A:p.R1571Q","Deafness, autosomal dominant 17, Autosomal dominant;Epstein syndrome, Autosomal dominant;Fechtner syndrome, Autosomal dominant;Macrothrombocytopenia and progressive sensorineural deafness, Autosomal dominant;May-Hegglin anomaly, Autosomal dominant;Sebastian syndrome, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1E-3,"D",0.999,"D",0.973,"D",0,"D",1,"D",3.11,"M",-1.56,"D",-3.45,"D",0.762,8.139,35,1,0.974,"D",0.727,"D",0.771,"D",0.672,0,5.25,0.871,0.935,0.999,1,19.215,"FamilyBased",".","ASD","WES",".","."]
[169790,22495306,8,109564441,109564441,"A","T","DeNovo",".",".","8q23.2","exonic","EBAG9",9166,".","nonsynonymous SNV","EBAG9:NM_001278938:exon7:c.A524T:p.Q175L,EBAG9:NM_004215:exon7:c.A524T:p.Q175L,EBAG9:NM_198120:exon7:c.A524T:p.Q175L",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.005,"D",0.59,"P",0.282,"B",".",".",1,"D",0.895,"L",".",".",-4.3,"D",0.643,5.818,27.2,0.994,0.998,"D",-0.802,"T",0.156,"T",0.706,0,5.31,1.062,1.088,0.999,0.999,14.745,"FamilyBased",".","ASD","WES",".","."]
[169791,22495306,7,98908807,98908807,"G","A","DeNovo",".",".","7q22.1","exonic","TRRAP",8295,".","nonsynonymous SNV","TRRAP:NM_001244580:exon14:c.G1195A:p.V399I,TRRAP:NM_003496:exon14:c.G1195A:p.V399I",".","ID=COSM748355,COSM748356;OCCURENCE=1(large_intestine),1(lung)","rs782052343",{"v":3.37e-05,"d":"3.37E-05"},0,0,0,0,{"v":6.13e-05,"d":"6.13E-05"},0,0,".",".",".",".",".",".",0.163,"T",0.981,"D",0.899,"P",0,"D",1,"D",1.52,"L",3.62,"T",-0.86,"N",0.635,4.611,24.4,0.998,0.994,"D",-0.567,"T",0.353,"T",0.707,0,5.84,0.917,0.953,0.999,1,20.155,"FamilyBased",".","ASD","WES",".","."]
[169793,22495306,16,376580,376580,"C","T","DeNovo",".",".","16p13.3","exonic","TMEM8A",58986,".","nonsynonymous SNV","TMEM8A:NM_021259:exon5:c.G868A:p.G290R",".","ID=COSM395022;OCCURENCE=1(lung)","rs748686647",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.629,"T",0.032,"B",0.006,"B",0.102,"N",1,"N",0.14,"N",2.07,"T",-0.16,"N",0.168,0.606,8.197,0.807,0.242,"N",-1.038,"T",0.036,"T",0.707,0,3.24,0.871,-0.437,0.009,0,8.07,"FamilyBased",".","ASD","WES",".","."]
[169794,22495306,15,50631486,50631486,"T","C","DeNovo",".",".","15q21.2","exonic","TRPM7",54822,".","nonsynonymous SNV","TRPM7:NM_001301212:exon10:c.A1135G:p.T379A,TRPM7:NM_017672:exon10:c.A1135G:p.T379A",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1E-3,"D",0.991,"D",0.901,"P",0,"D",1,"D",3.31,"M",1.66,"T",-4.42,"D",0.855,5.504,26.3,0.998,0.989,"D",-0.415,"T",0.236,"T",0.732,0,4.88,0.938,0.913,0.998,1,14.31,"FamilyBased",".","ASD","WES",".","."]
[169795,22495306,2,101466784,101466784,"A","C","DeNovo",".",".","2q11.2","exonic","RFX8",731220,".","nonsynonymous SNV","RFX8:NM_001145664:exon2:c.T65G:p.F22C",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",0.998,"D",".",".",0.96,"D",".",".",-2.62,"D",-2.28,"N",0.968,5.209,25.5,0.992,0.966,"D",0.873,"D",0.832,"D",0.495,0,5.2,1.062,1.088,1,0.981,11.38,"FamilyBased",".","ASD","WES",".","."]
[169796,22495306,2,168561321,168561321,"A","G","DeNovo",".",".","2q24.3","exonic","CERS6",253782,".","nonsynonymous SNV","CERS6:NM_001256126:exon3:c.A406G:p.M136V,CERS6:NM_203463:exon3:c.A406G:p.M136V",".",".","rs754075843",{"v":1.65e-05,"d":"1.65E-05"},0,0,0,0,0,0,1E-4,".",".",".",".",".",".",1,"T",0.416,"B",0.403,"B",0,"D",1,"D",1.87,"L",-1.76,"D",-2.01,"N",0.818,1.36,12.58,0.479,0.919,"D",-0.292,"T",0.492,"T",0.706,0,5.31,1.062,1.199,0.999,1,11.339,"FamilyBased",".","ASD","WES",".","."]
[169797,22495306,20,43541119,43541119,"T","G","DeNovo",".",".","20q13.12","exonic","L3MBTL1",26013,".","nonsynonymous SNV","L3MBTL1:NM_015478:exon19:c.T2310G:p.S770R,L3MBTL1:NM_032107:exon22:c.T2514G:p.S838R",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.005,"D",0.403,"B",0.208,"B",0.145,"U",1,"N",0,"N",2.18,"T",0.27,"N",0.209,0.012,2.702,0.991,0.027,"N",-1.039,"T",0.028,"T",0.638,0,-1.94,0.397,-0.1,0.008,0.007,3.171,"FamilyBased",".","ASD","WES",".","."]
[169798,22495306,15,65906121,65906121,"G","A","DeNovo",".",".","15q22.31","exonic","MEGF11",84465,".","nonsynonymous SNV","MEGF11:NM_032445:exon21:c.C2731T:p.R911C",".",".","rs201758507",1E-4,0,0.0004,0.0003,0,1E-4,0,{"v":8.51e-05,"d":"8.51E-05"},0.000399361,".",".",".",".",".",0.062,"T",0.97,"D",0.365,"B",0.784,"N",1,"D",0.345,"N",-2.14,"D",-1.39,"N",0.577,5.503,26.2,0.995,0.91,"D",-0.475,"T",0.409,"T",0.615,0,3.51,0.917,0.073,1,0.994,10.725,"FamilyBased",".","ASD","WES",".","."]
[169801,22495306,9,93020351,93020351,"A","G","DeNovo",".",".","9q22.31","exonic","FGD3",89846,".","nonsynonymous SNV","FGD3:NM_001083536:exon13:c.A1421G:p.N474S,FGD3:NM_001286993:exon13:c.A1421G:p.N474S,FGD3:NM_033086:exon13:c.A1421G:p.N474S",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.098,"T",0.99,"D",0.846,"P",0.035,"N",0.999,"D",1.955,"M",-2.28,"D",-1.6,"N",0.086,3.686,23.3,0.996,0.96,"D",0.438,"D",0.698,"D",0.672,0,4.58,1.062,1.194,0.983,0.98,13.112,"FamilyBased",".","ASD","WES",".","."]
[169803,22495306,19,15652609,15652609,"C","T","DeNovo",".",".","19p13.12","exonic","CYP4F3",4051,".","nonsynonymous SNV","CYP4F3:NM_000896:exon8:c.C959T:p.A320V,CYP4F3:NM_001199208:exon8:c.C959T:p.A320V,CYP4F3:NM_001199209:exon8:c.C959T:p.A320V",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",2E-3,"D",1,"D",0.994,"D",0,"U",1,"D",3.525,"H",-0.59,"T",-3.56,"D",0.768,6.642,32,0.999,0.884,"D",0.428,"D",0.608,"D",0.638,0,3.49,0.871,0.807,0.955,0.996,12.526,"FamilyBased",".","ASD","WES",".","."]
[169804,22495306,3,151734172,151734172,"C","T","DeNovo",".",".","3q25.1","exonic","AADACL2",344752,".","nonsynonymous SNV","AADACL2:NM_207365:exon1:c.C137T:p.T46M",".",".","rs556814703",{"v":4.35E-5,"d":"4.35E-05"},{"v":9.91e-05,"d":"9.91E-05"},0.0002,0,0,{"v":3.19e-05,"d":"3.19E-05"},0,0,0.000399361,".",".",".",".",".",0.605,"T",1E-3,"B",2E-3,"B",0.446,"N",1,"N",-0.665,"N",3.64,"T",2.36,"N",0.05,-0.217,1.012,0.74,1E-3,"N",-0.911,"T",0.005,"T",0.487,0,-4.39,-0.75,0.12,0.077,0.346,10.84,"FamilyBased",".","ASD","WES",".","."]
[169805,22495306,11,20118196,20118196,"G","A","DeNovo",".",".","11p15.1","exonic","NAV2",89797,".","nonsynonymous SNV","NAV2:NM_001111019:exon28:c.G4420A:p.D1474N,NAV2:NM_001111018:exon38:c.G7036A:p.D2346N,NAV2:NM_145117:exon38:c.G7228A:p.D2410N,NAV2:NM_182964:exon38:c.G7237A:p.D2413N,NAV2:NM_001244963:exon40:c.G7405A:p.D2469N",".",".","rs766434688",{"v":8.24e-06,"d":"8.24E-06"},0,0,0,0,{"v":1.5E-5,"d":"1.50E-05"},0,0,".",".",".",".",".",".",1E-3,"D",1,"D",0.998,"D",0,"D",1,"D",2.295,"M",2.63,"T",-3.04,"D",0.187,6.139,28.4,0.998,0.987,"D",-0.585,"T",0.277,"T",0.707,0,5.32,0.917,1.048,1,0.998,18.603,"FamilyBased",".","ASD","WES",".","."]
[169806,22495306,7,74555199,74555199,"A","G","DeNovo",".",".","7q11.23","exonic","GTF2IRD1",9569,".","nonsynonymous SNV","GTF2IRD1:NM_001199207:exon18:c.A2038G:p.K680E,GTF2IRD1:NM_005685:exon18:c.A1942G:p.K648E,GTF2IRD1:NM_016328:exon18:c.A1942G:p.K648E",".",".","rs782673656",{"v":8.27e-06,"d":"8.27E-06"},0,0,0,0,0,0,{"v":6.17e-05,"d":"6.17E-05"},".",".",".",".",".",".",0.395,"T",0.987,"D",0.883,"P",0,"D",0.997,"D",1.175,"L",1.56,"T",-2.3,"N",0.616,4.076,23.7,0.991,0.947,"D",-0.984,"T",0.162,"T",0.745,0,2.4,1.062,0.227,0.968,0.959,8.357,"FamilyBased",".","ASD","WES",".","."]
[169807,22495306,17,18237521,18237521,"C","T","DeNovo",".",".","17p11.2","exonic","LLGL1",3996,".","nonsynonymous SNV","LLGL1:NM_004140:exon14:c.C1652T:p.A551V",".",".","rs749413165",{"v":2.83E-5,"d":"2.83E-05"},0.0002,0,0,0,0,0,{"v":7.86E-5,"d":"7.86E-05"},".",".",".",".",".",".",0.312,"T",1E-3,"B",2E-3,"B",0.55,"N",1,"N",-0.255,"N",0.8,"T",-0.81,"N",0.049,2.163,17.27,0.986,0.132,"N",-1.053,"T",0.057,"T",0.707,0,2.37,-0.058,0.935,0.074,0.613,7.283,"FamilyBased",".","ASD","WES",".","."]
[169808,22495306,1,203683258,203683258,"G","A","DeNovo",".",".","1q32.1","exonic","ATP2B4",493,".","nonsynonymous SNV","ATP2B4:NM_001001396:exon2:c.G53A:p.R18H,ATP2B4:NM_001684:exon2:c.G53A:p.R18H",".",".","rs771059469",{"v":5.77E-5,"d":"5.77E-05"},0,0.0005,0,0,{"v":1.5E-5,"d":"1.50E-05"},0,0,".",".",".",".",".",".",1,"T",0,"B",1E-3,"B",0.451,"N",1,"N",-1.67,"N",-3.12,"D",2.08,"N",0.054,-1.065,0.012,0.322,0.042,"N",-0.506,"T",0.326,"T",0.722,0,-5.64,-0.31,-1.234,0.189,0.078,15.46,"FamilyBased",".","ASD","WES",".","."]
[169809,22495306,12,6521102,6521102,"T","C","DeNovo",".",".","12p13.31","exonic","NCAPD2",9918,".","nonsynonymous SNV","NCAPD2:NM_014865:exon14:c.T1706C:p.I569T",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.007,"D",0.981,"D",0.818,"P",0,"D",0.998,"D",0,"N",2.36,"T",-2.3,"N",0.681,4.263,23.9,0.998,0.993,"D",-1.035,"T",0.085,"T",0.707,0,5.84,0.991,0.964,0.738,0.944,16.232,"FamilyBased",".","ASD","WES",".","."]
[169810,22495306,16,20032346,20032346,"T","C","DeNovo",".",".","16p12.3","exonic","GPR139",124274,".","nonsynonymous SNV","GPR139:NM_001002911:exon2:c.A451G:p.S151G,GPR139:NM_001318483:exon3:c.A172G:p.S58G",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",2E-3,"B",0.004,"B",2E-3,"N",1,"N",-0.975,"N",1.33,"T",".",".",0.173,-1.594,2E-3,0.722,0.176,"N",-1.007,"T",0.029,"T",0.554,0,2.29,0.991,0.141,0.998,0.985,8.791,"FamilyBased",".","ASD","WES",".","."]
[169812,22495306,"X",130015162,130015162,"G","A","DeNovo",".",".","Xq26.1","exonic","BCORL1",63035,".","nonsynonymous SNV","BCORL1:NM_001184772:exon3:c.G2390A:p.C797Y,BCORL1:NM_021946:exon3:c.G2390A:p.C797Y",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",0.999,"D",0.996,"D",1E-3,"N",1,"D",0.805,"L",0.86,"T",-1.56,"N",0.874,4.357,24.1,0.996,0.951,"D",-0.505,"T",0.277,"T",".",".",5.06,0.917,0.949,0.98,0.997,17.618,"FamilyBased",".","ASD","WES",".","."]
[169813,22495306,1,231693870,231693870,"C","T","DeNovo",".",".","1q42.2","exonic","DISC1",27185,".","nonsynonymous SNV","DISC1:NM_001012957:exon2:c.C112T:p.R38W,DISC1:NM_001012958:exon2:c.C112T:p.R38W,DISC1:NM_001012959:exon2:c.C112T:p.R38W,DISC1:NM_001164537:exon2:c.C112T:p.R38W,DISC1:NM_001164538:exon2:c.C112T:p.R38W,DISC1:NM_001164539:exon2:c.C112T:p.R38W,DISC1:NM_001164540:exon2:c.C112T:p.R38W,DISC1:NM_001164541:exon2:c.C112T:p.R38W,DISC1:NM_001164542:exon2:c.C112T:p.R38W,DISC1:NM_001164544:exon2:c.C112T:p.R38W,DISC1:NM_001164545:exon2:c.C112T:p.R38W,DISC1:NM_001164546:exon2:c.C112T:p.R38W,DISC1:NM_001164547:exon2:c.C112T:p.R38W,DISC1:NM_001164548:exon2:c.C112T:p.R38W,DISC1:NM_001164549:exon2:c.C112T:p.R38W,DISC1:NM_001164550:exon2:c.C112T:p.R38W,DISC1:NM_001164551:exon2:c.C112T:p.R38W,DISC1:NM_001164552:exon2:c.C112T:p.R38W,DISC1:NM_001164553:exon2:c.C112T:p.R38W,DISC1:NM_001164554:exon2:c.C112T:p.R38W,DISC1:NM_001164555:exon2:c.C112T:p.R38W,DISC1:NM_018662:exon2:c.C112T:p.R38W",".",".","rs137948488",{"v":8.25E-5,"d":"8.25E-05"},0.0009,0,0,0,{"v":1.5E-5,"d":"1.50E-05"},0,0,".",".",".",".",".",".",1E-3,"D",0.945,"P",0.502,"P",0,"N",1,"D",1.1,"L",1.41,"T",-3.02,"D",0.732,7.035,33,0.998,0.502,"D",-1.019,"T",0.057,"T",0.516,0,0.173,-0.058,0.008,0.912,0.975,6.265,"FamilyBased",".","ASD","WES",".","."]
[169814,22495306,5,176389382,176389382,"G","A","DeNovo",".",".","5q35.2","exonic","HIGD2A",192286,".","nonsynonymous SNV","HIGD2A:NM_138820:exon2:c.G206A:p.R69Q",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.428,"T",0.081,"B",0.028,"B",0,"N",0.97,"D",0.55,"N",".",".",-0.06,"N",0.045,1.219,11.84,0.816,0.639,"D",-1.057,"T",0.103,"T",0.442,0,3.07,0.917,0.063,0.928,0.263,9.113,"FamilyBased",".","ASD","WES",".","."]
[169815,22495306,9,34728653,34728653,"C","G","DeNovo",".",".","9p13.3","exonic","FAM205A",259308,".","nonsynonymous SNV","FAM205A:NM_001141917:exon2:c.G146C:p.C49S",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.141,"T",1E-3,"B",1E-3,"B",".",".",0.997,"N",0.625,"N",1.97,"T",0.82,"N",0.045,-0.412,0.361,0.547,0.058,"N",-1.007,"T",0.03,"T",0.447,0,-1.11,0.008,-0.854,0.978,0.118,7.449,"FamilyBased",".","ASD","WES",".","."]
[169816,22495306,17,11902879,11902879,"C","T","DeNovo",".",".","17p12","exonic","DNAH9",1770,".","nonsynonymous SNV","DNAH9:NM_004662:exon6:c.C503T:p.A168V,DNAH9:NM_001372:exon60:c.C11567T:p.A3856V",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.03,"D",0.59,"P",0.451,"P",1E-3,"N",1,"D",2.26,"M",2.93,"T",-2.64,"D",0.291,3.177,22.7,0.998,0.316,"N",-1.133,"T",0.044,"T",0.487,0,1.48,0.871,0.935,0.99,0.996,9.626,"FamilyBased",".","ASD","WES",".","."]
[169817,22495306,2,25241651,25241651,"C","A","DeNovo",".",".","2p23.3","exonic","DNMT3A",1788,".","nonsynonymous SNV","DNMT3A:NM_001320893:exon12:c.G1537T:p.V513L,DNMT3A:NM_153759:exon13:c.G1426T:p.V476L,DNMT3A:NM_022552:exon17:c.G1993T:p.V665L,DNMT3A:NM_175629:exon17:c.G1993T:p.V665L","Tatton-Brown-Rahman syndrome, Autosomal dominant",".","rs766020170",{"v":8.34e-06,"d":"8.34E-06"},0,0,0,0,{"v":1.51e-05,"d":"1.51E-05"},0,0,".",".",".",".",".",".",0.006,"D",0.96,"D",0.969,"D",0,"D",1,"D",1.52,"L",-1.77,"D",-2.25,"N",0.801,7.034,33,0.998,0.968,"D",0.368,"D",0.645,"D",0.707,0,5.24,0.791,0.935,1,1,17.386,"FamilyBased",".","ASD","WES",".","."]
[169818,22495306,11,102722552,102722552,"G","A","DeNovo",".",".","11q22.2","exonic","MMP8",4317,".","nonsynonymous SNV","MMP8:NM_002424:exon2:c.C224T:p.T75M,MMP8:NM_001304441:exon3:c.C155T:p.T52M,MMP8:NM_001304442:exon3:c.C155T:p.T52M",".",".","rs779074177",{"v":8.24e-06,"d":"8.24E-06"},{"v":9.61e-05,"d":"9.61E-05"},0,0,0,0,0,0,".",".",".",".",".",".",0,"D",1,"D",1,"D",0,"D",1,"D",3.915,"H",0.51,"T",-5.31,"D",0.921,6.869,33,0.999,0.991,"D",0.298,"D",0.519,"D",0.487,0,5.73,0.917,0.953,0.014,0.084,19.892,"FamilyBased",".","ASD","WES",".","."]
[169819,22495306,8,11315026,11315026,"C","A","DeNovo",".",".","8p23.1","exonic","MTMR9",66036,".","nonsynonymous SNV","MTMR9:NM_015458:exon7:c.C1075A:p.R359S",".",".","rs141801830",{"v":1.65e-05,"d":"1.65E-05"},0,{"v":8.66e-05,"d":"8.66E-05"},1E-4,0,0,0,0,".",".",".",".",".",".",0.058,"T",0.688,"P",0.249,"B",0,"D",1,"D",1.6,"L",-2.62,"D",-3.43,"D",0.712,4.386,24.1,0.992,0.942,"D",0.381,"D",0.644,"D",0.707,0,5.05,0.871,0.935,0.999,0.999,17.57,"FamilyBased",".","ASD","WES",".","."]
[169820,22495306,5,69121807,69121807,"C","G","DeNovo",".",".","5q13.2","exonic","SLC30A5",64924,".","nonsynonymous SNV","SLC30A5:NM_022902:exon13:c.C1683G:p.S561R",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.22,"T",0.731,"P",0.347,"B",1E-3,"D",0.763,"D",2.37,"M",-0.25,"T",-2.47,"N",0.585,3.079,22.5,0.995,0.867,"D",-0.657,"T",0.277,"T",0.706,0,4.95,0.871,0.892,0.988,1,12.429,"FamilyBased",".","ASD","WES",".","."]
[169821,22495306,4,8618435,8618435,"C","T","DeNovo",".",".","4p16.1","exonic","CPZ",8532,".","nonsynonymous SNV","CPZ:NM_003652:exon9:c.C1477T:p.R493W,CPZ:NM_001014447:exon10:c.C1510T:p.R504W,CPZ:NM_001014448:exon10:c.C1099T:p.R367W",".",".","rs777229492",{"v":4.13e-05,"d":"4.13E-05"},{"v":9.63e-05,"d":"9.63E-05"},0,0,0,{"v":6.01e-05,"d":"6.01E-05"},0,0,".",".",".",".",".",".",0.008,"D",1,"D",0.986,"D",0,"D",0.999,"D",2.705,"M",3.89,"T",-4.9,"D",0.739,6.752,32,0.999,0.813,"D",-0.725,"T",0.182,"T",0.65,0,5.07,0.871,0.925,0.961,0.731,12.836,"FamilyBased",".","ASD","WES",".","."]
[169822,22495306,1,40495761,40495761,"A","G","DeNovo",".",".","1p34.2","exonic","ZFP69",339559,".","nonsynonymous SNV","ZFP69:NM_001320178:exon6:c.A1286G:p.H429R,ZFP69:NM_001320179:exon6:c.A1283G:p.H428R,ZFP69:NM_198494:exon6:c.A1283G:p.H428R",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.914,"T",0.955,"P",0.677,"P",0,"D",1,"N",-2.005,"N",2.8,"T",-1.34,"N",0.411,1.102,11.23,0.886,0.003,"N",-0.945,"T",0.009,"T",0.66,0,4.65,1.062,1.199,0.848,0.998,7.889,"FamilyBased",".","ASD","WES",".","."]
[169823,22495306,3,9047394,9047394,"C","T","DeNovo",".",".","3p25.3","exonic","SRGAP3",9901,".","nonsynonymous SNV","SRGAP3:NM_001033117:exon10:c.G1405A:p.E469K,SRGAP3:NM_014850:exon10:c.G1405A:p.E469K",".",".","rs140747772",{"v":8.35e-06,"d":"8.35E-06"},{"v":9.73e-05,"d":"9.73E-05"},0,0,0,0,0,0,".",".",".",".",".",".",0.336,"T",0.995,"D",0.97,"D",0,"D",1,"D",0.44,"N",2.2,"T",-1.35,"N",0.869,6.321,29.2,0.999,0.983,"D",-1.081,"T",0.085,"T",0.653,0,5.29,0.871,0.892,0.996,0.999,18.509,"FamilyBased",".","ASD","WES",".","."]
[169826,22495306,1,181052465,181052465,"C","T","DeNovo",".",".","1q25.3","exonic","MR1",3140,".","nonsynonymous SNV","MR1:NM_001194999:exon5:c.C700T:p.H234Y,MR1:NM_001531:exon5:c.C835T:p.H279Y",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1E-3,"D",0.046,"B",0.037,"B",0.111,"N",1,"N",2.035,"M",4.11,"T",-3.09,"D",0.255,0.374,6.387,0.991,0.123,"N",-1.079,"T",0.013,"T",0.672,0,3.4,0.871,0.065,0.659,0.059,9.958,"FamilyBased",".","ASD","WES",".","."]
[169827,22495306,10,100980910,100980910,"T","C","DeNovo",".",".","10q24.31","exonic","SEMA4G",57715,".","nonsynonymous SNV","SEMA4G:NM_001203244:exon12:c.T1556C:p.L519S,SEMA4G:NM_017893:exon12:c.T1556C:p.L519S",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",0.998,"D",0,"D",1,"D",2.255,"M",2.38,"T",-4.81,"D",0.696,5.158,25.4,0.998,0.987,"D",-0.803,"T",0.165,"T",0.651,0,5.03,0.991,0.913,1,1,13.922,"FamilyBased",".","ASD","WES",".","."]
[169830,22495306,11,95847830,95847830,"T","C","DeNovo",".",".","11q21","exonic","MTMR2",8898,".","nonsynonymous SNV","MTMR2:NM_016156:exon10:c.A1063G:p.N355D,MTMR2:NM_201281:exon11:c.A847G:p.N283D,MTMR2:NM_201278:exon12:c.A847G:p.N283D,MTMR2:NM_001243571:exon13:c.A847G:p.N283D","Charcot-Marie-Tooth disease, type 4B1, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",0.999,"D",0,"D",1,"D",2.97,"M",-2.77,"D",-4.77,"D",0.535,5.741,26.9,0.998,0.987,"D",0.954,"D",0.87,"D",0.706,0,5.65,0.991,1.061,0.999,0.996,15.882,"FamilyBased",".","ASD","WES",".","."]
[169831,22495306,11,82825039,82825039,"C","A","DeNovo",".",".","11q14.1","exonic","PRCP",5547,".","nonsynonymous SNV","PRCP:NM_001319214:exon8:c.G1043T:p.G348V,PRCP:NM_005040:exon9:c.G1358T:p.G453V,PRCP:NM_199418:exon10:c.G1421T:p.G474V",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",2E-3,"D",1,"D",0.999,"D",0,"D",1,"D",3.64,"H",-3.25,"D",-7.27,"D",0.957,6.646,32,0.997,0.992,"D",1.075,"D",0.924,"D",0.706,0,4.54,0.871,0.892,0.63,0.987,15.752,"FamilyBased",".","ASD","WES",".","."]
[169833,22495306,12,9072739,9072739,"G","A","DeNovo",".",".","12p13.31","exonic","A2M",2,".","nonsynonymous SNV","A2M:NM_001347425:exon29:c.C3439T:p.R1147C,A2M:NM_000014:exon30:c.C3889T:p.R1297C,A2M:NM_001347424:exon30:c.C3589T:p.R1197C,A2M:NM_001347423:exon31:c.C3889T:p.R1297C","Alpha-2-macroglobulin deficiency, Autosomal dominant",".","rs376258518",{"v":6.62e-05,"d":"6.62E-05"},1E-4,0,0,0,{"v":8.99e-05,"d":"8.99E-05"},0,{"v":6.06e-05,"d":"6.06E-05"},".",".",".",".",".",".",0.059,"T",0.72,"P",0.12,"B",0.094,"N",0.734,"D",3.34,"M",1.44,"T",-6.33,"D",0.255,3.354,22.9,0.993,0.824,"D",-0.704,"T",0.103,"T",0.549,0,5.07,0.917,0.953,0.068,0.459,8.759,"FamilyBased",".","ASD","WES",".","."]
[169834,22495306,12,20737256,20737256,"G","T","DeNovo",".",".","12p12.2","exonic","SLCO1C1",53919,".","nonsynonymous SNV","SLCO1C1:NM_001145944:exon9:c.G1178T:p.R393M,SLCO1C1:NM_001145945:exon11:c.G1385T:p.R462M,SLCO1C1:NM_017435:exon11:c.G1532T:p.R511M,SLCO1C1:NM_001145946:exon12:c.G1532T:p.R511M",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.016,"D",0.059,"B",0.043,"B",1E-3,"N",0.664,"N",0.55,"N",3.57,"T",-1.4,"N",0.282,4.129,23.8,0.924,0.971,"D",-1.049,"T",0.01,"T",0.487,0,3.15,0.917,1.048,0.911,0.98,8.577,"FamilyBased",".","ASD","WES",".","."]
[169835,22495306,2,127631272,127631272,"G","C","DeNovo",".",".","2q14.3","exonic","MYO7B",4648,".","nonsynonymous SNV","MYO7B:NM_001080527:exon36:c.G4926C:p.W1642C",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",0.999,"D",0,"D",1,"D",3.055,"M",-0.37,"T",-12.01,"D",0.946,5.44,26.1,0.992,0.986,"D",0.271,"D",0.583,"D",0.554,0,5.77,0.917,1.048,0.074,0.751,19.579,"FamilyBased",".","ASD","WES",".","."]
[169836,22495306,8,3107792,3107792,"T","C","DeNovo",".",".","8p23.2","exonic","CSMD1",64478,".","nonsynonymous SNV","CSMD1:NM_033225:exon45:c.A6761G:p.Q2254R",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.718,"T",0.936,"P",0.885,"P",0,"D",0.891,"D",0.715,"N",1.92,"T",-1.66,"N",0.189,0.513,7.527,0.553,0.724,"D",-1.093,"T",0.081,"T",0.487,0,5.11,0.991,1.051,0.957,0.999,14.89,"FamilyBased",".","ASD","WES",".","."]
[169837,22495306,6,25862316,25862316,"A","G","DeNovo",".",".","6p22.2","exonic","SLC17A3",10786,".","nonsynonymous SNV","SLC17A3:NM_001098486:exon3:c.T220C:p.S74P,SLC17A3:NM_006632:exon3:c.T220C:p.S74P",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.298,"T",0.02,"B",0.048,"B",".",".",1,"N",1.1,"L",0.29,"T",-1.38,"N",0.15,-0.054,2.1,0.859,0.025,"N",-1.024,"T",0.051,"T",0.487,0,-7.62,-0.523,-0.164,0,1E-3,2.207,"FamilyBased",".","ASD","WES",".","."]
[169838,22495306,7,144453610,144453610,"C","T","DeNovo",".",".","7q35","exonic","TPK1",27010,".","nonsynonymous SNV","TPK1:NM_001350889:exon6:c.G349A:p.G117R,TPK1:NM_001350885:exon7:c.G349A:p.G117R,TPK1:NM_001350887:exon7:c.G349A:p.G117R,TPK1:NM_001042482:exon8:c.G520A:p.G174R,TPK1:NM_001350880:exon8:c.G520A:p.G174R,TPK1:NM_001350884:exon8:c.G652A:p.G218R,TPK1:NM_001350893:exon8:c.G349A:p.G117R,TPK1:NM_001350894:exon8:c.G349A:p.G117R,TPK1:NM_001350879:exon9:c.G667A:p.G223R,TPK1:NM_001350883:exon9:c.G652A:p.G218R,TPK1:NM_001350886:exon9:c.G349A:p.G117R,TPK1:NM_022445:exon9:c.G667A:p.G223R,TPK1:NM_001350882:exon10:c.G652A:p.G218R,TPK1:NM_001350895:exon10:c.G316A:p.G106R","Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), Autosomal recessive;Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), Autosomal recessive",".","rs568804217",{"v":5.77E-5,"d":"5.77E-05"},0,{"v":8.68e-05,"d":"8.68E-05"},1E-4,0,{"v":1.5E-5,"d":"1.50E-05"},0,0.0002,".",".",".",".",".",".",0.054,"T",1,"D",0.974,"D",0.004,"N",1,"D",2.87,"M",-0.9,"T",-3.27,"D",0.881,4.67,24.5,0.999,0.798,"D",0.146,"D",0.616,"D",0.693,0,5.79,0.871,0.935,0.992,0.877,17.525,"FamilyBased",".","ASD","WES",".","."]
[169839,22495306,8,144356661,144356661,"C","T","DeNovo",".",".","8q24.3","exonic","FBXL6",26233,".","nonsynonymous SNV","FBXL6:NM_012162:exon6:c.G932A:p.R311H,FBXL6:NM_024555:exon6:c.G914A:p.R305H",".",".","rs782567879",{"v":1.67e-05,"d":"1.67E-05"},0,0,0,0,{"v":3.05e-05,"d":"3.05E-05"},0,0,".",".",".",".",".",".",0.55,"T",0.003,"B",1E-3,"B",0.644,"N",1,"N",0.895,"L",5.52,"T",0.17,"N",0.104,1.045,10.91,0.646,0.027,"N",-0.949,"T",0.024,"T",0.722,0,0.623,-0.064,0.852,0.03,0.187,4.097,"FamilyBased",".","ASD","WES",".","."]
[169841,22495306,12,57200780,57200780,"A","G","DeNovo",".",".","12q13.3","exonic","LRP1",4035,".","nonsynonymous SNV","LRP1:NM_002332:exon64:c.A10190G:p.N3397S",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.102,"T",0.997,"D",0.89,"P",1E-3,"D",0.978,"D",1.05,"L",-3.75,"D",-2.06,"N",0.107,4.586,24.4,0.995,0.992,"D",0.6,"D",0.83,"D",0.672,0,4.84,1.062,1.194,1,0.98,13.869,"FamilyBased",".","ASD","WES",".","."]
[169842,22495306,4,76179611,76179611,"A","G","DeNovo",".",".","4q21.1","exonic","SCARB2",950,".","nonsynonymous SNV","SCARB2:NM_005506:exon4:c.T518C:p.V173A","Epilepsy, progressive myoclonic 4, with or without renal failure, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.036,"D",0.749,"P",0.463,"P",0,"D",1,"D",1.67,"L",-0.93,"T",-3.46,"D",0.578,4.018,23.6,0.872,0.957,"D",-0.448,"T",0.343,"T",0.706,0,4.76,0.126,1.199,0.054,0.045,11.401,"FamilyBased",".","ASD","WES",".","."]
[169843,22495306,10,30028161,30028161,"C","T","DeNovo",".",".","10p11.23","exonic","JCAD",57608,".","nonsynonymous SNV","JCAD:NM_020848:exon3:c.G1987A:p.D663N,JCAD:NM_001350001:exon4:c.G1573A:p.D525N,JCAD:NM_001350021:exon4:c.G1573A:p.D525N,JCAD:NM_001350022:exon4:c.G1987A:p.D663N",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.018,"D",1,"D",0.995,"D",0,"D",1,"D",2.005,"M",2.04,"T",-3.63,"D",0.17,5.905,27.5,0.999,0.832,"D",-0.957,"T",0.147,"T",0.714,0,5.62,0.871,0.935,0.997,0.479,19.642,"FamilyBased",".","ASD","WES",".","."]
[169844,22495306,11,121168744,121168744,"G","A","DeNovo",".",".","11q23.3","exonic","TECTA",7007,".","nonsynonymous SNV","TECTA:NM_005422:exon19:c.G5818A:p.A1940T","Deafness, autosomal dominant 8/12, Autosomal dominant;Deafness, autosomal recessive 21, Autosomal recessive",".","rs759489246",{"v":1.65e-05,"d":"1.65E-05"},0,0,0,0,{"v":1.5E-5,"d":"1.50E-05"},0,{"v":6.06e-05,"d":"6.06E-05"},".",".",".",".",".",".",0.009,"D",0.9,"P",0.411,"B",0,"D",0.993,"D",1.735,"L",-1.59,"D",-0.75,"N",0.535,4.594,24.4,0.999,0.919,"D",0.041,"D",0.485,"T",0.554,0,5.81,0.917,1.048,0.994,0.996,14.757,"FamilyBased",".","ASD","WES",".","."]
[169846,22495306,5,14394111,14394111,"A","T","DeNovo",".",".","5p15.2","exonic","TRIO",7204,".","nonsynonymous SNV","TRIO:NM_007118:exon28:c.A4292T:p.K1431M","Mental retardation, autosomal dominant 44, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",0.999,"D",0,"D",1,"D",4.115,"H",0.97,"T",-5,"D",0.872,6.619,32,0.986,0.993,"D",0.178,"D",0.414,"T",0.707,0,5.1,1.062,1.199,0.998,0.964,15.186,"FamilyBased",".","ASD","WES",".","."]
[169847,22495306,19,6044230,6044230,"G","A","DeNovo",".",".","19p13.3","exonic","RFX2",5990,".","nonsynonymous SNV","RFX2:NM_000635:exon3:c.C143T:p.P48L,RFX2:NM_134433:exon3:c.C143T:p.P48L",".",".","rs750914387",{"v":3.34e-05,"d":"3.34E-05"},0,0,0.0004,0,0,0,0,".",".",".",".",".",".",0.725,"T",0.604,"P",0.094,"B",0.021,"N",0.603,"D",1.04,"L",1.56,"T",-1.59,"N",0.18,2.711,20.9,0.901,0.949,"D",-1.064,"T",0.035,"T",0.615,0,2.94,0.63,0.953,0.928,0.855,6.334,"FamilyBased",".","ASD","WES",".","."]
[169849,22495306,14,95108392,95108392,"G","A","DeNovo",".",".","14q32.13","exonic","DICER1",23405,".","nonsynonymous SNV","DICER1:NM_001195573:exon14:c.C2368T:p.R790W,DICER1:NM_001271282:exon15:c.C2368T:p.R790W,DICER1:NM_001291628:exon15:c.C2368T:p.R790W,DICER1:NM_177438:exon15:c.C2368T:p.R790W,DICER1:NM_030621:exon17:c.C2368T:p.R790W","Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors, Autosomal dominant;Pleuropulmonary blastoma, Autosomal dominant;Rhabdomyosarcoma, embryonal, 2",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",0.992,"D",0,"D",1,"D",2.265,"M",-1.8,"D",-7.03,"D",0.886,7.386,34,0.999,0.953,"D",0.541,"D",0.703,"D",0.707,0,4.74,0.917,1.048,0.988,1,16.059,"FamilyBased",".","ASD","WES",".","."]
[169850,22495306,11,837476,837476,"G","C","DeNovo",".",".","11p15.5","exonic","CD151",977,".","nonsynonymous SNV","CD151:NM_001039490:exon6:c.G473C:p.S158T,CD151:NM_139030:exon6:c.G473C:p.S158T,CD151:NM_004357:exon7:c.G473C:p.S158T,CD151:NM_139029:exon7:c.G473C:p.S158T","Nephropathy with pretibial epidermolysis bullosa and deafness",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.185,"T",0.792,"P",0.643,"P",0,"D",1,"D",1.85,"L",-1.24,"T",-1.03,"N",0.701,5.922,27.5,0.996,0.994,"D",-0.191,"T",0.474,"T",0.722,0,4.41,0.917,0.953,0.998,0.998,16.794,"FamilyBased",".","ASD","WES",".","."]
[169852,22495306,7,21698146,21698146,"A","G","DeNovo",".",".","7p15.3","exonic","DNAH11",8701,".","nonsynonymous SNV","DNAH11:NM_001277115:exon36:c.A6113G:p.D2038G","Ciliary dyskinesia, primary, 7, with or without situs inversus, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.006,"D",0.007,"B",0.039,"B",0,"D",1,"D",".",".",2.8,"T",-5.19,"D",0.507,3.974,23.6,0.994,0.916,"D",-1.103,"T",0.03,"T",0.638,0,5.33,1.062,1.199,0.857,0.783,15.299,"FamilyBased",".","ASD","WES",".","."]
[169853,22495306,1,118023432,118023432,"C","T","DeNovo",".",".","1p12","exonic","SPAG17",200162,".","nonsynonymous SNV","SPAG17:NM_206996:exon28:c.G3941A:p.S1314N",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.165,"T",1,"D",0.997,"D",0,"D",0.892,"D",1.7,"L",1.83,"T",-0.94,"N",0.173,6.211,28.7,0.996,0.871,"D",-1.089,"T",0.103,"T",0.526,0,5.72,0.871,0.935,0.769,0.224,16.813,"FamilyBased",".","ASD","WES",".","."]
[169855,22495306,6,43132030,43132030,"G","A","DeNovo",".",".","6p21.1","exonic","PTK7",5754,".","nonsynonymous SNV","PTK7:NM_001270398:exon6:c.G851A:p.R284H,PTK7:NM_002821:exon6:c.G827A:p.R276H,PTK7:NM_152880:exon6:c.G827A:p.R276H,PTK7:NM_152881:exon6:c.G827A:p.R276H,PTK7:NM_152882:exon6:c.G827A:p.R276H",".",".","rs56188167",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.051,"T",1,"D",0.961,"D",2E-3,"N",0.999,"N",0.79,"N",4.77,"T",1.1,"N",0.198,5.018,25.2,0.999,0.894,"D",-0.584,"T",0.256,"T",0.732,0,5.51,0.917,0.994,0.801,0.982,14.777,"FamilyBased",".","ASD","WES",".","."]
[169857,22495306,2,240595210,240595210,"G","A","DeNovo",".",".","2q37.3","exonic","CAPN10",11132,".","nonsynonymous SNV","CAPN10:NM_023083:exon7:c.G1184A:p.R395Q,CAPN10:NM_023085:exon7:c.G1184A:p.R395Q",".",".","rs780165677",{"v":1.66E-5,"d":"1.66E-05"},0,0,0,0,{"v":3.03e-05,"d":"3.03E-05"},0,0,".",".",".",".",".",".",0.382,"T",0.398,"B",0.042,"B",0.008,"N",1,"D",1.63,"L",0.96,"T",-0.79,"N",0.219,1.923,15.73,0.985,0.454,"N",-0.666,"T",0.452,"T",0.707,0,2.8,0.034,0.091,0.236,0.045,6.611,"FamilyBased",".","ASD","WES",".","."]
[169858,22495306,12,98626715,98626715,"T","C","DeNovo",".",".","12q23.1","exonic","IKBIP",121457,".","nonsynonymous SNV","IKBIP:NM_153687:exon3:c.A349G:p.M117V",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.67,"T",0,"B",1E-3,"B",0.091,"N",1,"D",".",".",1.06,"T",-0.28,"N",0.044,-1.183,0.007,0.812,0.416,"N",-1.057,"T",0.074,"T",0.706,0,-0.904,0.046,0.141,1,0.999,6.307,"FamilyBased",".","ASD","WES",".","."]
[169859,22495306,3,11025786,11025786,"C","T","DeNovo",".",".","3p25.3","exonic","SLC6A1",6529,".","nonsynonymous SNV","SLC6A1:NM_001348252:exon8:c.C329T:p.A110V,SLC6A1:NM_001348253:exon8:c.C329T:p.A110V,SLC6A1:NM_001348250:exon9:c.C863T:p.A288V,SLC6A1:NM_001348251:exon9:c.C503T:p.A168V,SLC6A1:NM_003042:exon9:c.C863T:p.A288V","Myoclonic-atonic epilepsy, Autosomal dominant",".","rs794726860",".",".",".",".",".",".",".",".",".","Pathogenic|Likely pathogenic","Myoclonic-atonic_epilepsy|not_provided","RCV000172998.2|RCV000414233.1","MedGen:OMIM|MedGen","CN231318:616421|CN221809",0,"D",1,"D",1,"D",0,"D",1,"D",4.3,"H",-2.79,"D",-3.82,"D",0.973,7.642,35,0.999,0.986,"D",1.082,"D",0.917,"D",0.554,0,4.98,0.853,0.935,0.995,0.548,18.45,"FamilyBased",".","ASD","WES",".","."]
[169860,22495306,7,24641845,24641845,"A","G","DeNovo",".",".","7p15.3","exonic","MPP6",51678,".","nonsynonymous SNV","MPP6:NM_001303037:exon3:c.A247G:p.I83V,MPP6:NM_016447:exon4:c.A247G:p.I83V",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.006,"D",0.89,"P",0.758,"P",0,"D",1,"D",2.46,"M",3.46,"T",-0.8,"N",0.468,4.911,25,0.999,0.996,"D",-1.067,"T",0.092,"T",0.732,0,4.49,1.062,1.199,0.976,0.996,11.849,"FamilyBased",".","ASD","WES",".","."]
[169861,22495306,15,22999851,22999851,"T","C","DeNovo",".",".","15q11.2","exonic","TUBGCP5",114791,".","nonsynonymous SNV","TUBGCP5:NM_052903:exon23:c.T3044G:p.L1015W",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WES",".","."]
[169863,22495306,7,141764567,141764567,"G","A","DeNovo",".",".","7q34","exonic","TAS2R3",50831,".","nonsynonymous SNV","TAS2R3:NM_016943:exon1:c.G409A:p.A137T",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.31,"T",0.006,"B",0.007,"B",0.923,"N",1,"N",0.6,"N",0.99,"T",-0.64,"N",0.065,0.992,10.61,0.963,0.045,"N",-1.018,"T",0.056,"T",0.557,1,-0.788,-0.045,0.108,0.071,0.041,4.275,"FamilyBased",".","ASD","WES",".","."]
[169865,22495306,17,35259562,35259562,"G","T","DeNovo",".",".","17q12","exonic","SLFN5",162394,".","nonsynonymous SNV","SLFN5:NM_001330183:exon2:c.G872T:p.G291V,SLFN5:NM_144975:exon2:c.G872T:p.G291V",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",2E-3,"D",1,"D",0.999,"D",0.005,"N",1,"D",2.455,"M",0.01,"T",-7.2,"D",0.793,4.556,24.4,0.995,0.843,"D",-0.356,"T",0.378,"T",0.707,0,2.7,0.917,1.048,0.861,0.758,7.341,"FamilyBased",".","ASD","WES",".","."]
[169868,22495306,6,63713346,63713346,"C","T","DeNovo",".",".","6q12","exonic","PHF3",23469,".","nonsynonymous SNV","PHF3:NM_015153:exon15:c.C5758T:p.R1920C,PHF3:NM_001290259:exon17:c.C5494T:p.R1832C",".","ID=COSM1162620;OCCURENCE=1(pancreas)","rs139522675",0.0002,{"v":9.68e-05,"d":"9.68E-05"},0,0,0.0002,0.0004,0,0,1.99681E-4,".",".",".",".",".",0,"D",0.086,"B",0.012,"B",1E-3,"N",1,"D",0.975,"L",1.56,"T",-4.43,"D",0.673,6.643,32,0.995,0.832,"D",-1.073,"T",0.025,"T",0.707,0,5.11,0.871,0.935,0.992,1,11.348,"FamilyBased",".","ASD","WES",".","."]

{"sheet":"DbLOF","index":2,"n_rows":1089,"n_cols":74,"rows_kept":1089}
["Supplementary Table 2B: List of ASD LOF mutation genes"]
[null,"PMID","Chr","Start","End","Ref","Alt","inheritence","parent_of_origin","germline","cytoBand","Func.refGene","Gene.refGene","GeneID","GeneDetail.refGene","ExonicFunc.refGene","AAChange.refGene","Xref.refGene","cosmic70","avsnp147","ExAC_ALL","ExAC_AFR","ExAC_AMR","ExAC_EAS","ExAC_FIN","ExAC_NFE","ExAC_OTH","ExAC_SAS","X1000g2015aug_all","CLINSIG","CLNDBN","CLNACC","CLNDSDB","CLNDSDBID","SIFT_score","SIFT_pred","Polyphen2_HDIV_score","Polyphen2_HDIV_pred","Polyphen2_HVAR_score","Polyphen2_HVAR_pred","LRT_score","LRT_pred","MutationTaster_score","MutationTaster_pred","MutationAssessor_score","MutationAssessor_pred","FATHMM_score","FATHMM_pred","PROVEAN_score","PROVEAN_pred","VEST3_score","CADD_raw","CADD_phred","DANN_score","fathmm.MKL_coding_score","fathmm.MKL_coding_pred","MetaSVM_score","MetaSVM_pred","MetaLR_score","MetaLR_pred","integrated_fitCons_score","integrated_confidence_value","GERP.._RS","phyloP7way_vertebrate","phyloP20way_mammalian","phastCons7way_vertebrate","phastCons20way_mammalian","SiPhy_29way_logOdds","study_type","ethnicity","phenotype","sequencing_method","age..yrs.","gender"]
[18,22542183,2,182926842,182926842,"C","A","DeNovo",".",".","2q32.1","exonic","NCKAP1",10787,".","stopgain","NCKAP1:NM_013436:exon30:c.G3244T:p.E1082X,NCKAP1:NM_205842:exon31:c.G3262T:p.E1088X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",".",".",".",".",".",".",".",14.773,47,0.997,0.997,"D",".",".",".",".",0.732,0,5.36,0.871,0.807,1,0.998,19.063,"FamilyBased",".","ASD","WES",".","."]
[33,22542183,4,39898410,39898410,"G","T","DeNovo",".",".","4p14","exonic","PDS5A",23244,".","stopgain","PDS5A:NM_001100399:exon16:c.C1749A:p.C583X,PDS5A:NM_001100400:exon16:c.C1749A:p.C583X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",10.617,36,0.99,0.96,"D",".",".",".",".",0.707,0,2.73,0.069,0.142,0.998,0.992,5.946,"FamilyBased",".","ASD","WES",".","."]
[36,22542183,11,117163876,117163876,"C","G","DeNovo",".",".","11q23.3","exonic;splicing","PAFAH1B2;PAFAH1B2","5049;5049","NM_001184748:exon5:c.393+2C>G;NM_001184748:exon5:c.393+2C>G","nonsynonymous SNV","PAFAH1B2:NM_001309431:exon4:c.C251G:p.A84G,PAFAH1B2:NM_001184746:exon5:c.C395G:p.A132G,PAFAH1B2:NM_001184747:exon5:c.C395G:p.A132G,PAFAH1B2:NM_002572:exon5:c.C395G:p.A132G",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.008,"D",0.983,"D",0.877,"P",0,"D",1,"D",3.145,"M",0.63,"T",-2.72,"D",0.621,4.994,25.1,0.995,0.998,"D",-0.107,"T",0.412,"T",0.707,0,5.85,0.871,0.871,1,1,20.158,"FamilyBased",".","ASD","WES",".","."]
[47,22542183,11,68171014,68171014,"C","T","DeNovo",".",".","11q13.2","splicing","KMT5B",51111,"NM_001300907:exon10:c.461+1G>A;NM_001300908:exon9:c.257+1G>A;NM_017635:exon9:c.977+1G>A;NM_001300909:exon8:c.908+1G>A;NM_016028:exon9:c.977+1G>A;NM_001300907:exon10:c.461+1G>A;NM_001300908:exon9:c.257+1G>A;NM_017635:exon9:c.977+1G>A;NM_001300909:exon8:c.908+1G>A;NM_016028:exon9:c.977+1G>A",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",4.404,24.1,0.994,0.985,"D",".",".",".",".",0.295,0,4.87,0.871,0.935,0.947,0.995,15.034,"FamilyBased",".","ASD","WES",".","."]
[73,22542183,18,5398077,5398077,"G","A","DeNovo",".",".","18p11.31","exonic","EPB41L3",23136,".","stopgain","EPB41L3:NM_001281533:exon16:c.C1909T:p.R637X,EPB41L3:NM_001330557:exon16:c.C1909T:p.R637X,EPB41L3:NM_012307:exon17:c.C2416T:p.R806X",".","ID=COSM1303780;OCCURENCE=1(urinary_tract)","rs781377051",{"v":8.3e-06,"d":"8.30E-06"},0,0,0,0,{"v":1.51e-05,"d":"1.51E-05"},0,0,".",".",".",".",".",".",".",".",".",".",".",".",0.005,"N",1,"A",".",".",".",".",".",".",".",11.013,37,0.998,0.756,"D",".",".",".",".",0.563,0,2.8,-1.36,0.097,0.951,0.914,15.801,"FamilyBased",".","ASD","WES",".","."]
[81,22542183,2,229836980,229836980,"G","A","DeNovo",".",".","2q36.3","exonic","TRIP12",9320,".","stopgain","TRIP12:NM_001284216:exon3:c.C103T:p.R35X,TRIP12:NM_001284215:exon5:c.C1012T:p.R338X,TRIP12:NM_001348316:exon5:c.C1012T:p.R338X,TRIP12:NM_001348317:exon5:c.C1012T:p.R338X,TRIP12:NM_001348318:exon5:c.C1012T:p.R338X,TRIP12:NM_001348331:exon5:c.C1012T:p.R338X,TRIP12:NM_004238:exon5:c.C1012T:p.R338X,TRIP12:NM_001284214:exon6:c.C1138T:p.R380X,TRIP12:NM_001348315:exon6:c.C1138T:p.R380X,TRIP12:NM_001348319:exon6:c.C1138T:p.R380X,TRIP12:NM_001348320:exon6:c.C1138T:p.R380X,TRIP12:NM_001348321:exon6:c.C1138T:p.R380X,TRIP12:NM_001348323:exon6:c.C1138T:p.R380X,TRIP12:NM_001348324:exon6:c.C1138T:p.R380X,TRIP12:NM_001348326:exon6:c.C1138T:p.R380X,TRIP12:NM_001348327:exon6:c.C1138T:p.R380X,TRIP12:NM_001348328:exon6:c.C1138T:p.R380X,TRIP12:NM_001348329:exon6:c.C1138T:p.R380X,TRIP12:NM_001348330:exon6:c.C1138T:p.R380X,TRIP12:NM_001348333:exon6:c.C1138T:p.R380X,TRIP12:NM_001348335:exon6:c.C1138T:p.R380X,TRIP12:NM_001348336:exon6:c.C1138T:p.R380X,TRIP12:NM_001348322:exon7:c.C1138T:p.R380X,TRIP12:NM_001348325:exon7:c.C1138T:p.R380X,TRIP12:NM_001348332:exon7:c.C1051T:p.R351X,TRIP12:NM_001348334:exon7:c.C1051T:p.R351X",".","ID=COSM1017548;OCCURENCE=1(endometrium)",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",12.523,39,0.998,0.996,"D",".",".",".",".",0.706,0,5.75,0.917,1.048,1,1,20.305,"FamilyBased",".","ASD","WES",".","."]
[98,22542183,1,61088233,61088233,"C","T","DeNovo",".",".","1p31.3","exonic","NFIA",4774,".","stopgain","NFIA:NM_001134673:exon2:c.C112T:p.R38X,NFIA:NM_001145511:exon2:c.C88T:p.R30X,NFIA:NM_005595:exon2:c.C112T:p.R38X,NFIA:NM_001145512:exon3:c.C247T:p.R83X",".","ID=COSM3667568,COSM3667569,COSM3667567;OCCURENCE=1(liver)",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",11.878,38,0.997,0.895,"D",".",".",".",".",0.707,0,5.86,0.871,0.935,1,1,14.398,"FamilyBased",".","ASD","WES",".","."]
[109,22542183,19,52849215,52849215,"T","C","DeNovo",".",".","19q13.41","splicing","ZNF468",90333,"NM_001277120:exon3:c.16-2A>G;NM_001008801:exon3:c.16-2A>G",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",0.5,7.427,0.767,0.703,"D",".",".",".",".",0.156,0,2.21,0.732,0.63,0.354,0.006,6.571,"FamilyBased",".","ASD","WES",".","."]
[158,22542183,8,123775203,123775203,"C","T","DeNovo",".",".","8q24.13","exonic","FAM91A1",157769,".","stopgain","FAM91A1:NM_001317918:exon3:c.C214T:p.R72X,FAM91A1:NM_144963:exon3:c.C214T:p.R72X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"U",1,"A",".",".",".",".",".",".",".",11.728,38,0.998,0.946,"D",".",".",".",".",0.707,0,5.33,0.871,0.935,0.973,0.993,12.686,"FamilyBased",".","ASD","WES",".","."]
[165,22542183,2,169185798,169185798,"G","A","DeNovo",".",".","2q31.1","exonic","LRP2",4036,".","stopgain","LRP2:NM_004525:exon50:c.C9550T:p.R3184X","Donnai-Barrow syndrome, Autosomal recessive","ID=COSM1305828;OCCURENCE=1(urinary_tract)",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",15.816,53,0.997,0.964,"D",".",".",".",".",0.554,0,5.97,0.917,1.048,1,1,20.439,"FamilyBased",".","ASD","WES",".","."]
[175,22542183,2,209881047,209881047,"C","T","DeNovo",".",".","2q34","exonic","UNC80",285175,".","stopgain","UNC80:NM_032504:exon25:c.C4069T:p.R1357X,UNC80:NM_182587:exon25:c.C4054T:p.R1352X","Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",12.786,40,0.998,0.867,"D",".",".",".",".",0.554,0,1.38,-0.662,0.02,0.983,0.998,15.624,"FamilyBased",".","ASD","WES",".","."]
[184,22542183,5,56100248,56100248,"G","A","DeNovo",".",".","5q11.2","exonic","ANKRD55",79722,".","stopgain","ANKRD55:NM_024669:exon12:c.C1780T:p.R594X",".","ID=COSM449782;OCCURENCE=1(breast)","rs139797482",1E-4,0,0.0002,0,0.0002,0.0002,0,0,".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",".",".",".",".",".",".",".",13.019,40,0.996,0.638,"D",".",".",".",".",0.487,0,3.84,-0.747,0.014,0.031,0.293,11.074,"FamilyBased",".","ASD","WES",".","."]
[229,22542183,2,50497467,50497467,"A","T","DeNovo",".",".","2p16.3","exonic","NRXN1",9378,".","stopgain","NRXN1:NM_001330087:exon9:c.T2634A:p.Y878X,NRXN1:NM_001330096:exon9:c.T2634A:p.Y878X,NRXN1:NM_001330083:exon10:c.T2679A:p.Y893X,NRXN1:NM_001330084:exon10:c.T2679A:p.Y893X,NRXN1:NM_001330088:exon10:c.T2664A:p.Y888X,NRXN1:NM_001330095:exon12:c.T2694A:p.Y898X,NRXN1:NM_001330077:exon13:c.T2721A:p.Y907X,NRXN1:NM_001330082:exon13:c.T2721A:p.Y907X,NRXN1:NM_001330085:exon13:c.T2718A:p.Y906X,NRXN1:NM_001330094:exon13:c.T2733A:p.Y911X,NRXN1:NM_001330078:exon14:c.T2745A:p.Y915X,NRXN1:NM_001330086:exon14:c.T2745A:p.Y915X,NRXN1:NM_001330093:exon14:c.T2742A:p.Y914X,NRXN1:NM_004801:exon14:c.T2745A:p.Y915X,NRXN1:NM_001135659:exon15:c.T2865A:p.Y955X","Pitt-Hopkins-like syndrome 2, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",13.863,43,0.997,0.917,"D",".",".",".",".",0.638,0,4.44,1.062,1.199,1,1,11.496,"FamilyBased",".","ASD","WES",".","."]
[252,22542183,4,113311389,113311389,"C","T","DeNovo",".",".","4q26","exonic","ANK2",287,".","stopgain","ANK2:NM_001148:exon24:c.C2683T:p.R895X,ANK2:NM_020977:exon24:c.C2683T:p.R895X,ANK2:NM_001127493:exon25:c.C2620T:p.R874X","Cardiac arrhythmia, ankyrin-B-related, Autosomal dominant;Long QT syndrome 4, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",13.25,41,0.998,0.88,"D",".",".",".",".",0.707,0,3.22,-0.094,0.02,0.986,0.854,13.487,"FamilyBased",".","ASD","WES",".","."]
[286,22542183,4,6842187,6842187,"C","T","DeNovo",".",".","4p16.1","exonic","KIAA0232",9778,".","stopgain","KIAA0232:NM_001100590:exon3:c.C352T:p.R118X,KIAA0232:NM_014743:exon4:c.C352T:p.R118X",".","ID=COSM275668;OCCURENCE=1(urinary_tract),1(large_intestine)",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",14.144,44,0.998,0.977,"D",".",".",".",".",0.651,0,5.14,0.871,0.852,0.999,0.998,18.581,"FamilyBased",".","ASD","WES",".","."]
[312,22542183,4,148152526,148152526,"G","T","DeNovo",".",".","4q31.23","exonic","NR3C2",4306,".","stopgain","NR3C2:NM_001166104:exon5:c.C2102A:p.S701X,NR3C2:NM_000901:exon6:c.C2453A:p.S818X","Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy;Pseudohypoaldosteronism type I, autosomal dominant, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",14.444,46,0.997,0.992,"D",".",".",".",".",0.615,0,5.67,0.917,0.998,1,0.999,19.769,"FamilyBased",".","ASD","WES",".","."]
[313,22542183,11,22255451,22255451,"C","T","DeNovo",".",".","11p14.3","exonic","ANO5",203859,".","stopgain","ANO5:NM_001142649:exon13:c.C1258T:p.Q420X,ANO5:NM_213599:exon13:c.C1261T:p.Q421X","Gnathodiaphyseal dysplasia, Autosomal dominant;Miyoshi muscular dystrophy 3, Autosomal recessive;Muscular dystrophy, limb-girdle, type 2L, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",13.387,42,0.999,0.986,"D",".",".",".",".",0.638,0,5.11,0.871,0.935,1,0.999,18.535,"FamilyBased",".","ASD","WES",".","."]
[321,22542183,6,53013976,53013976,"G","A","DeNovo",".",".","6p12.1","exonic","ICK",22858,".","stopgain","ICK:NM_014920:exon9:c.C838T:p.R280X,ICK:NM_016513:exon10:c.C838T:p.R280X","Endocrine-cerebroosteodysplasia, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",12.657,39,0.998,0.949,"D",".",".",".",".",0.707,0,4.19,0.917,1.048,1,1,15.559,"FamilyBased",".","ASD","WES",".","."]
[323,22542183,3,196327033,196327033,"C","T","DeNovo",".",".","3q29","splicing","TM4SF19",116211,"NM_138461:exon3:c.202-1G>A;NM_001204897:exon3:c.202-1G>A",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",3.817,23.4,0.989,0.689,"D",".",".",".",".",0.078,0,4.49,0.871,0.935,0.093,0.275,9.02,"FamilyBased",".","ASD","WES",".","."]
[343,22542183,14,77427630,77427630,"G","A","DeNovo",".",".","14q24.3","exonic","VIPAS39",63894,".","stopgain","VIPAS39:NM_001193316:exon19:c.C1321T:p.R441X,VIPAS39:NM_001193314:exon20:c.C1468T:p.R490X,VIPAS39:NM_001193315:exon20:c.C1468T:p.R490X,VIPAS39:NM_001193317:exon20:c.C1468T:p.R490X,VIPAS39:NM_022067:exon21:c.C1468T:p.R490X","Arthrogryposis, renal dysfunction, and cholestasis 2, Autosomal recessive","ID=COSM958165;OCCURENCE=1(endometrium)","rs777254676",{"v":8.24e-06,"d":"8.24E-06"},{"v":9.62e-05,"d":"9.62E-05"},0,0,0,0,0,0,".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",".",".",".",".",".",".",".",15.436,51,0.998,0.992,"D",".",".",".",".",0.707,0,5.46,0.83,1.045,1,1,16.561,"FamilyBased",".","ASD","WES",".","."]
[362,22542183,20,20026783,20026783,"G","A","DeNovo",".",".","20p11.23","splicing","NAA20",51126,"NM_181528:exon4:c.170-1G>A;NM_016100:exon4:c.170-1G>A;NM_181527:exon4:c.134-1G>A",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",5.339,25.8,0.995,0.995,"D",".",".",".",".",0.295,0,5.13,0.917,1.048,1,1,15.491,"FamilyBased",".","ASD","WES",".","."]
[397,22542183,1,169127268,169127268,"C","T","DeNovo",".",".","1q24.2","exonic","ATP1B1",481,".","stopgain","ATP1B1:NM_001677:exon4:c.C427T:p.R143X",".",".","rs80176946",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.587,"N",1,"A",".",".",".",".",".",".",".",8.857,35,0.994,0.33,"N",".",".",".",".",0.707,0,3.09,0.871,0.04,0.976,0.772,11.896,"FamilyBased",".","ASD","WES",".","."]
[417,22542183,10,127384789,127384789,"G","C","DeNovo",".",".","10q26.2","splicing","DOCK1",1793,"NM_001290223:exon38:c.3808-1G>C;NM_001380:exon38:c.3745-1G>C",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",4.116,23.8,0.993,0.998,"D",".",".",".",".",0.162,0,4.61,0.917,1.048,0.897,0.934,17.641,"FamilyBased",".","ASD","WES",".","."]
[420,22542183,3,100296276,100296276,"G","C","DeNovo",".",".","3q12.1","splicing","TBC1D23",55773,"NM_001199198:exon8:c.876+1G>C;NM_018309:exon8:c.876+1G>C;NM_001199198:exon8:c.876+1G>C;NM_018309:exon8:c.876+1G>C",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",4.845,24.8,0.996,0.993,"D",".",".",".",".",0.164,0,5.39,0.917,0.912,0.962,0.978,19.151,"FamilyBased",".","ASD","WES",".","."]
[442,22542183,7,11447395,11447395,"G","A","DeNovo",".",".","7p21.3","exonic","THSD7A",221981,".","stopgain","THSD7A:NM_015204:exon12:c.C2635T:p.Q879X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",13.429,42,0.999,0.993,"D",".",".",".",".",0.638,0,5.73,0.917,1.048,0.999,0.988,19.905,"FamilyBased",".","ASD","WES",".","."]
[456,22542183,4,84797999,84797999,"T","A","DeNovo",".",".","4q21.23","exonic","WDFY3",23001,".","stopgain","WDFY3:NM_014991:exon18:c.A2932T:p.R978X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",12.092,38,0.998,0.959,"D",".",".",".",".",0.707,0,5.49,0.991,1.061,0.999,1,15.88,"FamilyBased",".","ASD","WES",".","."]
[465,22542183,"X",16654459,16654459,"G","T","DeNovo",".",".","Xp22.2","exonic","S100G",795,".","stopgain","S100G:NM_004057:exon3:c.G190T:p.E64X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1E-3,"D",1,"D",".",".",".",".",".",".",".",14.274,45,0.997,0.851,"D",".",".",".",".",".",".",5.57,0.917,1.044,1,1,14,"FamilyBased",".","ASD","WES",".","."]
[509,22542183,20,1229895,1229895,"C","T","DeNovo",".",".","20p13","exonic","RAD21L1",642636,".","stopgain","RAD21L1:NM_001136566:exon3:c.C160T:p.R54X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.022,"N",1,"A",".",".",".",".",".",".",".",12.681,40,0.997,0.931,"D",".",".",".",".",0.497,0,5.16,0.871,0.892,0.998,1,14.531,"FamilyBased",".","ASD","WES",".","."]
[564,22542183,17,79835251,79835251,"G","A","DeNovo",".",".","17q25.3","exonic","CBX4",8535,".","stopgain","CBX4:NM_003655:exon5:c.C391T:p.Q131X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"U",1,"D",".",".",".",".",".",".",".",9.923,36,0.998,0.978,"D",".",".",".",".",0.632,0,4.16,0.917,0.993,0.997,1,16.492,"FamilyBased",".","ASD","WES",".","."]
[566,22542183,12,106067491,106067491,"G","A","DeNovo",".",".","12q23.3","exonic","NUAK1",9891,".","stopgain","NUAK1:NM_014840:exon7:c.C1297T:p.Q433X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.005,"N",1,"D",".",".",".",".",".",".",".",11.777,38,0.998,0.977,"D",".",".",".",".",0.722,0,5.56,0.917,0.998,0.924,0.882,15.063,"FamilyBased",".","ASD","WES",".","."]
[596,22542183,4,24532938,24532938,"G","A","DeNovo",".",".","4p15.2","exonic","DHX15",1665,".","stopgain","DHX15:NM_001358:exon12:c.C2026T:p.R676X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",12.859,40,0.997,0.958,"D",".",".",".",".",0.732,0,3.71,-0.045,0.998,0.999,1,12.083,"FamilyBased",".","ASD","WES",".","."]
[614,22542183,17,5182744,5182744,"G","A","DeNovo",".",".","17p13.2","exonic","ZNF594",84622,".","stopgain","ZNF594:NM_032530:exon2:c.C1513T:p.Q505X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",6.901,33,0.982,0,"N",".",".",".",".",0.66,0,1.32,0.589,-0.936,0.803,0,4.654,"FamilyBased",".","ASD","WES",".","."]
[624,22542183,9,92515075,92515075,"G","A","DeNovo",".",".","9q22.31","exonic","ECM2",1842,".","stopgain","ECM2:NM_001197295:exon4:c.C544T:p.R182X,ECM2:NM_001197296:exon4:c.C544T:p.R182X,ECM2:NM_001393:exon4:c.C610T:p.R204X",".",".","rs368116708",{"v":2.47e-05,"d":"2.47E-05"},{"v":9.62e-05,"d":"9.62E-05"},0,0,0,{"v":1.5E-5,"d":"1.50E-05"},0,{"v":6.06e-05,"d":"6.06E-05"},".",".",".",".",".",".",".",".",".",".",".",".",0.584,"N",1,"A",".",".",".",".",".",".",".",8.668,35,0.997,0.313,"N",".",".",".",".",0.554,0,4.69,0.573,1.048,0.332,0.767,12.916,"FamilyBased",".","ASD","WES",".","."]
[631,22542183,11,9089725,9089725,"C","A","DeNovo",".",".","11p15.4","exonic","SCUBE2",57758,".","stopgain","SCUBE2:NM_001170690:exon2:c.G238T:p.E80X,SCUBE2:NM_001330199:exon2:c.G238T:p.E80X,SCUBE2:NM_020974:exon2:c.G238T:p.E80X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",12.719,40,0.996,0.923,"D",".",".",".",".",0.549,0,4.84,0.871,0.935,0.998,1,17.726,"FamilyBased",".","ASD","WES",".","."]
[640,22542183,10,247397,247397,"G","A","DeNovo",".",".","10p15.3","splicing","ZMYND11",10771,"NM_006624:exon12:c.1159-1G>A;NM_001330057:exon13:c.1108-1G>A;NM_212479:exon12:c.1156-1G>A;NM_001202465:exon10:c.904-1G>A;NM_001202466:exon11:c.994-1G>A;NM_001202464:exon11:c.997-1G>A;NM_001202468:exon11:c.1159-1G>A;NM_001202467:exon10:c.997-1G>A",".",".","Mental retardation, autosomal dominant 30, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",5.95,27.6,0.995,0.995,"D",".",".",".",".",0.156,0,6.03,0.917,1.048,0.998,1,20.557,"FamilyBased",".","ASD","WES",".","."]
[709,22542183,1,244388989,244388989,"C","T","DeNovo",".",".","1q44","exonic","C1orf100",200159,".","stopgain","C1orf100:NM_001012970:exon5:c.C364T:p.R122X,C1orf100:NM_001276348:exon5:c.C268T:p.R90X",".","ID=COSM906666;OCCURENCE=1(endometrium),1(skin)","rs760285735",{"v":1.65e-05,"d":"1.65E-05"},0,0,0,0,{"v":1.5E-5,"d":"1.50E-05"},0,{"v":6.06e-05,"d":"6.06E-05"},".",".",".",".",".",".",".",".",".",".",".",".",0.587,"N",0.995,"D",".",".",".",".",".",".",".",9.201,35,0.974,0.019,"N",".",".",".",".",0.554,0,-3.04,-0.281,0.115,0.301,0.853,6.153,"FamilyBased",".","ASD","WES",".","."]
[732,22542183,3,54887957,54887957,"A","G","DeNovo",".",".","3p14.3","splicing","CACNA2D3",55799,"NM_018398:exon24:c.2057-2A>G",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",4.28,24,0.995,0.99,"D",".",".",".",".",0.054,0,5.61,1.062,1.199,0.99,0.982,14.412,"FamilyBased",".","ASD","WES",".","."]
[741,22542183,9,92265044,92265044,"C","A","DeNovo",".",".","9q22.31","exonic","IARS",3376,".","stopgain","IARS:NM_002161:exon16:c.G1585T:p.E529X,IARS:NM_013417:exon16:c.G1585T:p.E529X","Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",13.12,41,0.998,0.964,"D",".",".",".",".",0.672,0,5.4,0.871,0.892,1,1,18.765,"FamilyBased",".","ASD","WES",".","."]
[748,25363760,1,2303327,2303327,"C","T","DeNovo",".",".","1p36.32","exonic","SKI",6497,".","stopgain","SKI:NM_003036:exon3:c.C1138T:p.R380X","Shprintzen-Goldberg syndrome, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",11.821,38,0.998,0.899,"D",".",".",".",".",0.707,0,2.34,0.868,0.923,1,0.994,11.884,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[802,25363760,1,75932232,75932232,"G","T","DeNovo",".",".","1p31.1","exonic","ASB17",127247,".","stopgain","ASB17:NM_080868:exon1:c.C60A:p.C20X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",7.188,34,0.989,0.722,"D",".",".",".",".",0.487,0,-0.005,-0.047,-1.234,0.992,0.86,9.026,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[822,25363760,1,114674752,114674752,"C","CT","DeNovo",".",".","1p13.2","exonic","AMPD1",270,".","frameshift substitution","AMPD1:NM_001172626:exon12:c.1887delinsAG:p.S630Efs*22,AMPD1:NM_000036:exon13:c.1899delinsAG:p.S634Efs*22","Myopathy due to myoadenylate deaminase deficiency, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased&CaseControl",".","ASD","WES",".",2]
[829,25363760,1,150266557,150266557,"G","A","DeNovo",".",".","1q21.2","exonic","APH1A",51107,".","stopgain","APH1A:NM_001243771:exon5:c.C538T:p.R180X,APH1A:NM_001243772:exon5:c.C499T:p.R167X,APH1A:NM_001077628:exon6:c.C709T:p.R237X,APH1A:NM_016022:exon6:c.C709T:p.R237X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",2E-3,"N",1,"D",".",".",".",".",".",".",".",10.752,36,0.995,0.973,"D",".",".",".",".",0.707,0,4.09,0.917,0.112,1,0.998,11.08,"FamilyBased&CaseControl",".","ASD","WES",".",2]
[834,25363760,1,151406993,151406993,"G","GGTAC","DeNovo",".",".","1q21.3","exonic","POGZ",23126,".","frameshift substitution","POGZ:NM_145796:exon15:c.2178delinsGTACC:p.F727Yfs*43,POGZ:NM_207171:exon15:c.2304delinsGTACC:p.F769Yfs*43,POGZ:NM_001194938:exon16:c.2277delinsGTACC:p.F760Yfs*43,POGZ:NM_001194937:exon17:c.2436delinsGTACC:p.F813Yfs*43,POGZ:NM_015100:exon17:c.2463delinsGTACC:p.F822Yfs*43;POGZ:NM_145796:exon15:c.2178delinsGTACC:p.F727Yfs*43,POGZ:NM_207171:exon15:c.2304delinsGTACC:p.F769Yfs*43,POGZ:NM_001194938:exon16:c.2277delinsGTACC:p.F760Yfs*43,POGZ:NM_001194937:exon17:c.2436delinsGTACC:p.F813Yfs*43,POGZ:NM_015100:exon17:c.2463delinsGTACC:p.F822Yfs*43","White-Sutton syndrome, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased&CaseControl",".","ASD","WES",".",2]
[839,25363760,1,153665244,153665244,"G","A","DeNovo",".",".","1q21.3","exonic","ILF2",3608,".","stopgain","ILF2:NM_001267809:exon8:c.C439T:p.R147X,ILF2:NM_004515:exon8:c.C553T:p.R185X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",13.126,41,0.997,0.963,"D",".",".",".",".",0.719,0,5.61,0.917,0.025,0.998,0.998,17.133,"FamilyBased&CaseControl",".","ASD","WES",".",2]
[849,25363760,1,158943904,158943904,"C","T","DeNovo",".",".","1q23.1","exonic","PYHIN1",149628,".","stopgain","PYHIN1:NM_152501:exon6:c.C1117T:p.R373X,PYHIN1:NM_198928:exon6:c.C1090T:p.R364X,PYHIN1:NM_198929:exon6:c.C1117T:p.R373X,PYHIN1:NM_198930:exon6:c.C1090T:p.R364X",".","ID=COSM897934,COSM1583537;OCCURENCE=2(endometrium)","rs143484340",0.0003,0.0011,{"v":8.74e-05,"d":"8.74E-05"},0,0,0.0004,0,0,0.000599042,".",".",".",".",".",".",".",".",".",".",".",".",".",1,"A",".",".",".",".",".",".",".",6.238,28.8,0.892,0.007,"N",".",".",".",".",0.554,0,-4.51,-0.04,-0.537,0.008,0.065,7.32,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[858,25363760,1,171652173,171652173,"G","A","DeNovo",".",".","1q24.3","exonic","MYOC",4653,".","stopgain","MYOC:NM_000261:exon1:c.C439T:p.R147X","Glaucoma 1A, primary open angle, Autosomal dominant",".","rs376127682",1E-4,0,0,0,0.0003,1E-4,0,0.0002,".",".",".",".",".",".",".",".",".",".",".",".",0.013,"N",1,"A",".",".",".",".",".",".",".",9.382,35,0.998,0.263,"N",".",".",".",".",0.447,0,2.61,-0.022,0.953,0.105,0.977,8.113,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[869,25363760,1,192810164,192810164,"A","T","DeNovo",".",".","1q31.2","splicing","RGS2",5997,"NM_002923:exon2:c.111-2A>T",".",".",".",".","rs767257495",0.0002,1E-4,0,0,0,0.0003,0,0,".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",4.23,23.9,0.992,0.983,"D",".",".",".",".",0.256,0,6.01,1.062,1.199,0.54,0.482,15.345,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[870,25363760,1,193142033,193142033,"G","GAC","DeNovo",".",".","1q31.2","exonic","CDC73",79577,".","frameshift substitution","CDC73:NM_024529:exon7:c.696delinsGAC:p.R234Hfs*24","Hyperparathyroidism, familial primary, Autosomal dominant;Hyperparathyroidism-jaw tumor syndrome, Autosomal dominant;Parathyroid adenoma with cystic changes, Autosomal dominant;Parathyroid carcinoma",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased&CaseControl",".","ASD","WES",".",1]
[875,25363760,1,202755275,202755275,"G","GC","DeNovo",".",".","1q32.1","exonic","KDM5B",10765,".","frameshift substitution","KDM5B:NM_001347591:exon10:c.1399delinsGC:p.H467Afs*4,KDM5B:NM_006618:exon11:c.1534delinsGC:p.H512Afs*4,KDM5B:NM_001314042:exon12:c.1642delinsGC:p.H548Afs*4",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased&CaseControl",".","ASD","WES",".",1]
[878,25363760,1,203847462,203847462,"A","T","DeNovo",".",".","1q32.1","exonic","ZC3H11A",9877,".","stopgain","ZC3H11A:NM_001350264:exon13:c.A1321T:p.K441X,ZC3H11A:NM_001350263:exon14:c.A1321T:p.K441X,ZC3H11A:NM_001350265:exon14:c.A1321T:p.K441X,ZC3H11A:NM_001319238:exon15:c.A1321T:p.K441X,ZC3H11A:NM_001319239:exon15:c.A1321T:p.K441X,ZC3H11A:NM_001350261:exon15:c.A1321T:p.K441X,ZC3H11A:NM_001350262:exon15:c.A1321T:p.K441X,ZC3H11A:NM_001350266:exon15:c.A1321T:p.K441X,ZC3H11A:NM_014827:exon15:c.A1321T:p.K441X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",13.411,42,0.997,0.986,"D",".",".",".",".",0.707,0,5.7,1.062,1.082,0.101,0.99,13.967,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[899,25363760,1,244420297,244420297,"C","A","DeNovo",".",".","1q44","splicing","ADSS",159,"NM_001126:exon8:c.664-1G>T",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",5.948,27.6,0.995,0.993,"D",".",".",".",".",0.322,0,5.4,0.871,0.888,0.989,0.998,19.524,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[900,25363760,1,244653315,244653315,"T","TG","DeNovo",".",".","1q44","exonic","DESI2",51029,".","frameshift substitution","DESI2:NM_001297746:exon1:c.2delinsTG:p.A3Gfs*2,DESI2:NM_016076:exon1:c.2delinsTG:p.A3Gfs*2",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased&CaseControl",".","ASD","WES",".",1]
[905,25363760,2,1923178,1923178,"G","T","DeNovo",".",".","2p25.3","exonic","MYT1L",23040,".","stopgain","MYT1L:NM_001303052:exon10:c.C591A:p.Y197X,MYT1L:NM_001329845:exon10:c.C591A:p.Y197X,MYT1L:NM_001329846:exon10:c.C591A:p.Y197X,MYT1L:NM_001329847:exon10:c.C591A:p.Y197X,MYT1L:NM_001329848:exon10:c.C591A:p.Y197X,MYT1L:NM_001329849:exon10:c.C591A:p.Y197X,MYT1L:NM_001329851:exon10:c.C591A:p.Y197X,MYT1L:NM_001329852:exon10:c.C591A:p.Y197X,MYT1L:NM_015025:exon10:c.C591A:p.Y197X,MYT1L:NM_001329844:exon11:c.C591A:p.Y197X","Mental retardation, autosomal dominant 39, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",7.029,33,0.991,0.848,"D",".",".",".",".",0.487,0,-1.18,0.034,-1.23,0.999,0.044,10.932,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[923,25363760,2,32431065,32431065,"C","T","DeNovo",".",".","2p22.3","exonic","BIRC6",57448,".","stopgain","BIRC6:NM_016252:exon12:c.C3223T:p.R1075X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",8.347,35,0.991,0.957,"D",".",".",".",".",0.707,0,-3.11,-0.048,-0.953,0.996,0.112,20.1,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[924,25363760,2,37072176,37072176,"G","A","DeNovo",".",".","2p22.2","exonic","HEATR5B",54497,".","stopgain","HEATR5B:NM_019024:exon6:c.C703T:p.R235X",".",".","rs759952399",{"v":8.24e-06,"d":"8.24E-06"},0,0,0,0,{"v":1.5E-5,"d":"1.50E-05"},0,0,".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",10.016,36,0.998,0.967,"D",".",".",".",".",0.707,0,4.53,0.917,0.064,0.996,0.968,13.242,"FamilyBased&CaseControl",".","ASD","WES",".",2]
[925,25363760,2,38825971,38825971,"G","A","DeNovo",".",".","2p22.1","exonic","DHX57",90957,".","stopgain","DHX57:NM_001329963:exon16:c.C2584T:p.R862X,DHX57:NM_198963:exon16:c.C2890T:p.R964X",".",".","rs199895785",{"v":1.65e-05,"d":"1.65E-05"},0,0,0,0,{"v":3e-05,"d":"3.00E-05"},0,0,".",".",".",".",".",".",".",".",".",".",".",".",0.01,"N",1,"A",".",".",".",".",".",".",".",14.628,47,0.998,0.983,"D",".",".",".",".",0.707,0,5.66,0.917,1.048,1,0.665,14.586,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[928,25363760,2,45008711,45008711,"T","A","DeNovo",".",".","2p21","exonic","SIX2",10736,".","stopgain","SIX2:NM_016932:exon1:c.A400T:p.K134X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",12.276,39,0.995,0.953,"D",".",".",".",".",0.598,0,5.19,0.991,1.061,1,0.998,14.725,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[942,25363760,2,65334653,65334653,"G","A","DeNovo",".",".","2p14","exonic","SPRED2",200734,".","stopgain","SPRED2:NM_001128210:exon3:c.C316T:p.R106X,SPRED2:NM_181784:exon3:c.C325T:p.R109X",".",".","rs753453111",{"v":2.47e-05,"d":"2.47E-05"},0,0,0,0,{"v":3e-05,"d":"3.00E-05"},0,{"v":6.06e-05,"d":"6.06E-05"},".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",11.556,37,0.998,0.972,"D",".",".",".",".",0.737,0,5.42,0.917,1.048,0.995,0.996,14.107,"FamilyBased&CaseControl",".","ASD","WES",".",2]
[950,25363760,2,71570679,71570679,"C","T","DeNovo",".",".","2p13.2","exonic","DYSF",8291,".","stopgain","DYSF:NM_001130976:exon28:c.C3070T:p.R1024X,DYSF:NM_001130977:exon28:c.C3070T:p.R1024X,DYSF:NM_001130984:exon28:c.C3073T:p.R1025X,DYSF:NM_001130986:exon28:c.C3073T:p.R1025X,DYSF:NM_001130455:exon29:c.C3115T:p.R1039X,DYSF:NM_001130978:exon29:c.C3112T:p.R1038X,DYSF:NM_001130980:exon29:c.C3163T:p.R1055X,DYSF:NM_001130981:exon29:c.C3163T:p.R1055X,DYSF:NM_001130983:exon29:c.C3115T:p.R1039X,DYSF:NM_001130985:exon29:c.C3166T:p.R1056X,DYSF:NM_001130987:exon29:c.C3166T:p.R1056X,DYSF:NM_003494:exon29:c.C3112T:p.R1038X,DYSF:NM_001130979:exon30:c.C3205T:p.R1069X,DYSF:NM_001130982:exon30:c.C3208T:p.R1070X","Miyoshi muscular dystrophy 1, Autosomal recessive;Muscular dystrophy, limb-girdle, type 2B, Autosomal recessive;Myopathy, distal, with anterior tibial onset, Autosomal recessive","ID=COSM3695590,COSM3695591;OCCURENCE=1(large_intestine)","rs369607332",{"v":1.68e-05,"d":"1.68E-05"},0,0,0,0,{"v":3.04E-5,"d":"3.04E-05"},0,0,".","Pathogenic|Pathogenic","Limb-girdle_muscular_dystrophy\\x2c_type_2B|not_provided","RCV000201098.1|RCV000255805.1","MedGen:OMIM:Orphanet|MedGen","C1850889:253601:ORPHA268|CN221809",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",12.315,39,0.998,0.77,"D",".",".",".",".",0.707,0,2.05,-0.022,-0.035,0.836,0.964,3.634,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[958,25363760,2,86451190,86451190,"A","T","DeNovo",".",".","2p11.2","exonic","KDM3A",55818,".","stopgain","KDM3A:NM_001146688:exon4:c.A430T:p.K144X,KDM3A:NM_018433:exon4:c.A430T:p.K144X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",11.715,38,0.996,0.926,"D",".",".",".",".",0.707,0,6.06,1.062,1.199,0.998,0.997,13.982,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[978,25363760,2,152672458,152672458,"C","T","DeNovo",".",".","2q23.3","splicing","PRPF40A",55660,"NM_017892:exon13:c.1370+1G>A",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",5.952,27.7,0.995,0.998,"D",".",".",".",".",0.295,0,5.75,0.871,0.92,0.991,0.977,20.312,"FamilyBased&CaseControl",".","ASD","WES",".",2]
[982,25363760,2,162035269,162035269,"T","TA","DeNovo",".",".","2q24.2","exonic","DPP4",1803,".","frameshift substitution","DPP4:NM_001935:exon9:c.669delinsTA:p.L223Ffs*7",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased&CaseControl",".","ASD","WES",".",1]
[987,25363760,2,165326893,165326893,"T","TA","DeNovo",".",".","2q24.3","exonic","SCN2A",6326,".","frameshift substitution","SCN2A:NM_001040143:exon12:c.2058delinsTA:p.S687Ifs*33,SCN2A:NM_001040142:exon13:c.2058delinsTA:p.S687Ifs*33,SCN2A:NM_021007:exon13:c.2058delinsTA:p.S687Ifs*33","Epileptic encephalopathy, early infantile, 11, Autosomal dominant;Seizures, benign familial infantile, 3, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased&CaseControl",".","ASD","WES",".",2]
[989,25363760,2,165388627,165388627,"A","T","DeNovo",".",".","2q24.3","splicing","SCN2A",6326,"NM_001040142:exon27:c.4823-2A>T;NM_021007:exon27:c.4823-2A>T;NM_001040143:exon26:c.4823-2A>T",".",".","Epileptic encephalopathy, early infantile, 11, Autosomal dominant;Seizures, benign familial infantile, 3, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",2.761,21.2,0.989,0.998,"D",".",".",".",".",0.066,0,5.6,1.062,1.199,0.282,0.504,16.129,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[992,25363760,2,166465847,166465847,"G","A","DeNovo",".",".","2q24.3","exonic","SCN7A",6332,".","stopgain","SCN7A:NM_002976:exon7:c.C805T:p.R269X",".","ID=COSM1008889,COSM273567;OCCURENCE=1(liver),2(large_intestine),2(endometrium)","rs768676762",{"v":8.29e-06,"d":"8.29E-06"},0,0,0,0,{"v":1.5E-5,"d":"1.50E-05"},0,0,".",".",".",".",".",".",".",".",".",".",".",".",0.233,"N",1,"A",".",".",".",".",".",".",".",6.606,32,0.994,0.165,"N",".",".",".",".",0.554,0,1.71,0.917,0.108,0.816,0.933,9.262,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[996,25363760,2,173033965,173033965,"G","A","DeNovo",".",".","2q31.1","splicing","RAPGEF4",11069,"NM_007023:exon27:c.2700+1G>A;NM_001100397:exon24:c.2268+1G>A;NM_001282900:exon23:c.2187+1G>A;NM_001282899:exon24:c.2241+1G>A;NM_001282901:exon21:c.2040+1G>A",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",5.485,26.2,0.996,0.982,"D",".",".",".",".",0.106,0,6.17,0.917,1.048,1,1,20.879,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[998,25363760,2,177629495,177629495,"C","T","DeNovo",".",".","2q31.2","exonic","PDE11A",50940,".","stopgain","PDE11A:NM_001077196:exon17:c.G1382A:p.W461X,PDE11A:NM_001077358:exon19:c.G1640A:p.W547X,PDE11A:NM_016953:exon20:c.G2714A:p.W905X,PDE11A:NM_001077197:exon21:c.G1964A:p.W655X","Pigmented nodular adrenocortical disease, primary, 2, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",14.019,44,0.993,0.975,"D",".",".",".",".",0.428,0,5.62,0.791,0.81,0.996,1,19.652,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[1002,25363760,2,178710785,178710785,"G","A","DeNovo",".",".","2q31.2","exonic","TTN",7273,".","stopgain","TTN:NM_133378:exon95:c.C24580T:p.R8194X,TTN:NM_001256850:exon96:c.C27361T:p.R9121X,TTN:NM_001267550:exon98:c.C28312T:p.R9438X","Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant","ID=COSM1403196;OCCURENCE=1(large_intestine)",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"A",".",".",".",".",".",".",".",16.94,57,0.988,0.89,"D",".",".",".",".",0.554,0,5.29,0.917,1.048,1,0.998,13.697,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[1041,25363760,2,233441935,233441935,"C","CG","DeNovo",".",".","2q37.1","exonic","DGKD",8527,".","frameshift substitution","DGKD:NM_003648:exon9:c.1002delinsCG:p.D336Gfs*18,DGKD:NM_152879:exon10:c.1134delinsCG:p.D380Gfs*18",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased&CaseControl",".","ASD","WES",".",1]
[1054,25363760,3,9441704,9441704,"C","T","DeNovo",".",".","3p25.3","exonic","SETD5",55209,".","stopgain","SETD5:NM_001080517:exon9:c.C922T:p.R308X,SETD5:NM_001292043:exon11:c.C628T:p.R210X,SETD5:NM_001349451:exon12:c.C628T:p.R210X","Mental retardation, autosomal dominant 23, Autosomal dominant","ID=COSM420284;OCCURENCE=1(urinary_tract)",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",12.163,38,0.997,0.949,"D",".",".",".",".",0.707,0,5.76,0.871,0.935,1,0.999,20.324,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[1097,25363760,3,54838619,54838619,"G","T","DeNovo",".",".","3p14.3","exonic","CACNA2D3",55799,".","stopgain","CACNA2D3:NM_018398:exon16:c.G1522T:p.E508X",".","ID=COSM259910;OCCURENCE=1(large_intestine)",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",14.832,48,0.998,0.99,"D",".",".",".",".",0.615,0,5.72,0.917,1.048,0.998,1,18.077,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[1105,25363760,3,98791840,98791840,"G","C","DeNovo",".",".","3q12.1","splicing","ST3GAL6",10402,"NM_001323352:exon10:c.757-1G>C;NM_001271142:exon10:c.499-1G>C;NM_001271148:exon6:c.325-1G>C;NM_001271147:exon9:c.403-1G>C;NM_001323353:exon8:c.325-1G>C;NM_001323358:exon11:c.433-1G>C;NM_001323359:exon10:c.433-1G>C;NM_001323360:exon11:c.499-1G>C;NM_001323362:exon9:c.325-1G>C;NM_001271146:exon9:c.757-1G>C;NM_001323363:exon8:c.325-1G>C;NM_001323364:exon9:c.325-1G>C;NM_006100:exon10:c.757-1G>C;NM_001271145:exon9:c.916-1G>C;NM_001323365:exon10:c.757-1G>C;NM_001323366:exon11:c.499-1G>C;NM_001323368:exon9:c.757-1G>C;NM_001323367:exon9:c.826-1G>C",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",4.869,24.9,0.994,0.964,"D",".",".",".",".",0.164,0,5.7,0.917,1.03,0.863,0.946,17.332,"FamilyBased&CaseControl",".","ASD","WES",".",2]
[1112,25363760,3,113657484,113657484,"G","A","DeNovo",".",".","3q13.2","exonic","USF3",205717,".","stopgain","USF3:NM_001009899:exon7:c.C4198T:p.R1400X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",2E-3,"N",1,"D",".",".",".",".",".",".",".",8.851,35,0.99,0.828,"D",".",".",".",".",0.615,0,3.82,0.917,0.998,0.991,0.996,13.684,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[1126,25363760,3,138319583,138319583,"T","C","DeNovo",".",".","3q22.3","splicing","NME9",347736,"NM_178130:exon5:c.26-2A>G;NM_001349021:exon3:c.92-2A>G;NM_001349018:exon3:c.92-2A>G;NM_001349020:exon3:c.92-2A>G;NM_001349022:exon4:c.26-2A>G;NM_001349023:exon2:UTR5NM_001349024:exon4:c.92-2A>G;NM_001349025:exon3:c.92-2A>G",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",4.617,24.5,0.988,0.902,"D",".",".",".",".",0.054,0,5.2,0.991,1.011,0.58,0.362,12.997,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[1178,25363760,4,48561467,48561467,"C","T","DeNovo",".",".","4p11","splicing","FRYL",285527,"NM_015030:exon33:c.3865+1G>A",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",4.787,24.7,0.987,0.982,"D",".",".",".",".",0.164,0,5.82,0.871,0.935,0.986,0.977,20.101,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[1199,25363760,4,87495031,87495031,"C","A","DeNovo",".",".","4q22.1","exonic","SPARCL1",8404,".","stopgain","SPARCL1:NM_004684:exon3:c.G151T:p.E51X,SPARCL1:NM_001128310:exon4:c.G151T:p.E51X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.385,"N",1,"A",".",".",".",".",".",".",".",7.45,34,0.994,0.833,"D",".",".",".",".",0.554,0,3.41,0.598,-0.029,0.075,0.035,8.341,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[1201,25363760,4,90628086,90628086,"C","T","DeNovo",".",".","4q22.1","exonic","CCSER1",401145,".","stopgain","CCSER1:NM_001145065:exon6:c.C1786T:p.R596X,CCSER1:NM_207491:exon6:c.C1786T:p.R596X",".",".","rs775072687",{"v":8.28e-06,"d":"8.28E-06"},0,0,0,0,{"v":1.5E-5,"d":"1.50E-05"},0,0,".",".",".",".",".",".",".",".",".",".",".",".",1E-3,"N",1,"A",".",".",".",".",".",".",".",9.326,35,0.996,0.051,"N",".",".",".",".",0.554,0,1.07,-0.301,0.075,0.975,0.253,6.322,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[1208,25363760,4,113333091,113333091,"C","T","DeNovo",".",".","4q26","exonic","ANK2",287,".","stopgain","ANK2:NM_001148:exon29:c.C3262T:p.R1088X,ANK2:NM_020977:exon29:c.C3262T:p.R1088X,ANK2:NM_001127493:exon31:c.C3235T:p.R1079X","Cardiac arrhythmia, ankyrin-B-related, Autosomal dominant;Long QT syndrome 4, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1E-3,"D",1,"A",".",".",".",".",".",".",".",11.602,37,0.997,0.94,"D",".",".",".",".",0.719,0,4.77,0.871,0.935,1,0.994,13.477,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[1213,25363760,4,122892884,122892884,"T","A","DeNovo",".",".","4q28.1","exonic","NUDT6",11162,".","stopgain","NUDT6:NM_007083:exon5:c.A895T:p.K299X,NUDT6:NM_198041:exon5:c.A388T:p.K130X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",".",".",".",".",".",".",".",11.085,37,0.991,0.916,"D",".",".",".",".",0.707,0,5.11,0.991,1.061,0.993,0.997,10.22,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[1218,25363760,4,139340976,139340976,"C","G","DeNovo",".",".","4q31.1","exonic","NAA15",80155,".","stopgain","NAA15:NM_057175:exon4:c.C309G:p.Y103X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",9.156,35,0.996,0.899,"D",".",".",".",".",0.732,0,2.14,-0.032,0.036,0.997,0.999,10.954,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[1222,25363760,4,151122204,151122204,"C","A","DeNovo",".",".","4q31.3","exonic","SH3D19",152503,".","stopgain","SH3D19:NM_001128924:exon13:c.G2083T:p.G695X,SH3D19:NM_001128923:exon20:c.G2191T:p.G731X,SH3D19:NM_001243349:exon20:c.G2191T:p.G731X,SH3D19:NM_001009555:exon21:c.G2260T:p.G754X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.008,"N",1,"D",".",".",".",".",".",".",".",13.825,43,0.992,0.942,"D",".",".",".",".",0.719,0,5.53,0.853,0.85,0.986,0.984,19.459,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[1225,25363760,4,157332903,157332903,"C","T","DeNovo",".",".","4q32.1","exonic","GRIA2",2891,".","stopgain","GRIA2:NM_000826:exon7:c.C967T:p.R323X,GRIA2:NM_001083619:exon7:c.C967T:p.R323X,GRIA2:NM_001083620:exon7:c.C826T:p.R276X",".",".","rs143505003",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",11.367,37,0.997,0.702,"D",".",".",".",".",0.487,0,0.552,-0.8,-0.035,0.972,0.994,14.948,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[1240,25363760,5,32263193,32263193,"C","T","DeNovo",".",".","5p13.3","exonic","MTMR12",54545,".","stopgain","MTMR12:NM_001040446:exon7:c.G633A:p.W211X,MTMR12:NM_001294343:exon7:c.G633A:p.W211X,MTMR12:NM_001294344:exon7:c.G633A:p.W211X",".",".","rs867830741",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",13.089,41,0.996,0.957,"D",".",".",".",".",0.707,0,5.55,0.871,0.932,0.998,1,19.518,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[1247,25363760,5,66043075,66043075,"A","T","DeNovo",".",".","5q12.3","splicing","ERBIN",55914,"NM_001253701:exon16:c.1307-2A>T;NM_001253697:exon16:c.1307-2A>T;NM_018695:exon16:c.1307-2A>T;NM_001253699:exon16:c.1307-2A>T;NM_001253698:exon16:c.1307-2A>T;NM_001006600:exon16:c.1307-2A>T",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",4.672,24.5,0.994,0.98,"D",".",".",".",".",0.295,0,5.39,1.062,1.199,0.98,0.998,12.791,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[1265,25363760,5,116504918,116504918,"A","T","DeNovo",".",".","5q23.1","exonic","SEMA6A",57556,".","stopgain","SEMA6A:NM_001300780:exon2:c.T27A:p.Y9X,SEMA6A:NM_020796:exon2:c.T27A:p.Y9X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",12.363,39,0.997,0.91,"D",".",".",".",".",0.737,0,4.2,1.062,0.237,0.999,0.992,8.102,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[1268,25363760,5,126484398,126484398,"G","C","DeNovo",".",".","5q23.2","splicing","GRAMD2B",65983,"NM_001349541:exon10:c.848-1G>C;NM_001349542:exon10:c.800-1G>C;NM_001349543:exon9:c.536-1G>C;NM_001349544:exon11:c.872-1G>C",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.999,"D",".",".",".",".",".",".",".",1.059,10.99,0.708,0.609,"D",".",".",".",".",0.156,0,-0.341,-0.687,-0.557,0.151,0.849,8.821,"FamilyBased&CaseControl",".","ASD","WES",".",2]
[1271,25363760,5,134535873,134535873,"C","T","DeNovo",".",".","5q31.1","exonic","JADE2",23338,".","stopgain","JADE2:NM_001289984:exon2:c.C16T:p.R6X,JADE2:NM_001289985:exon2:c.C64T:p.R22X,JADE2:NM_001308143:exon2:c.C16T:p.R6X,JADE2:NM_015288:exon2:c.C16T:p.R6X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.126,"N",1,"A",".",".",".",".",".",".",".",12.524,39,0.997,0.85,"D",".",".",".",".",0.732,0,4.89,0.871,0.935,1,1,14.977,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[1274,25363760,5,138873609,138873609,"G","A","DeNovo",".",".","5q31.2","exonic","LRRTM2",26045,".","stopgain","LRRTM2:NM_015564:exon2:c.C952T:p.R318X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",".",".",".",".",".",".",".",9.025,35,0.994,0.825,"D",".",".",".",".",0.476,0,0.939,-0.683,0.017,0.954,0.925,10.37,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[1298,25363760,5,171295938,171295938,"C","T","DeNovo",".",".","5q35.1","exonic","RANBP17",64901,".","stopgain","RANBP17:NM_022897:exon27:c.C3094T:p.Q1032X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.005,"N",1,"A",".",".",".",".",".",".",".",12.655,39,0.997,0.972,"D",".",".",".",".",0.653,0,5.85,0.871,0.935,0.832,0.988,19.759,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[1311,25363760,6,10801909,10801909,"G","A","DeNovo",".",".","6p24.2","exonic","MAK",4117,".","stopgain","MAK:NM_001242957:exon7:c.C814T:p.R272X,MAK:NM_005906:exon7:c.C814T:p.R272X,MAK:NM_001242385:exon8:c.C814T:p.R272X","Retinitis pigmentosa 62, Autosomal recessive","ID=COSM180738;OCCURENCE=3(large_intestine)","rs753314164",{"v":8.24e-06,"d":"8.24E-06"},0,0,0,0,{"v":1.5E-5,"d":"1.50E-05"},0,0,".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",13.884,43,0.997,0.879,"D",".",".",".",".",0.554,0,5.42,0.917,0.072,0.99,0.995,15.325,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[1315,25363760,6,18171447,18171447,"C","T","DeNovo",".",".","6p22.3","exonic","KDM1B",221656,".","stopgain","KDM1B:NM_153042:exon7:c.C502T:p.R168X",".","ID=COSM1076376;OCCURENCE=1(endometrium)","rs375309615",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"N",1,"A",".",".",".",".",".",".",".",12.93,40,0.998,0.879,"D",".",".",".",".",0.651,0,5.42,0.871,0.807,0.508,0.919,13.287,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[1334,25363760,6,33437986,33437986,"C","T","DeNovo",".",".","6p21.32","exonic","SYNGAP1",8831,".","stopgain","SYNGAP1:NM_001130066:exon8:c.C1081T:p.Q361X,SYNGAP1:NM_006772:exon8:c.C1081T:p.Q361X","Mental retardation, autosomal dominant 5, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",10.234,36,0.998,0.87,"D",".",".",".",".",0.707,0,4.74,0.871,0.852,1,1,15.262,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[1336,25363760,6,33443451,33443451,"C","T","DeNovo",".",".","6p21.32","exonic","SYNGAP1",8831,".","stopgain","SYNGAP1:NM_001130066:exon14:c.C2857T:p.R953X,SYNGAP1:NM_006772:exon15:c.C2899T:p.R967X","Mental retardation, autosomal dominant 5, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.158,"N",1,"A",".",".",".",".",".",".",".",11.973,38,0.997,0.726,"D",".",".",".",".",0.672,0,3.51,0.871,0.803,1,1,9.963,"FamilyBased&CaseControl",".","ASD","WES",".",2]
[1356,25363760,6,80011487,80011487,"C","T","DeNovo",".",".","6q14.1","exonic","TTK",7272,".","stopgain","TTK:NM_001166691:exon6:c.C667T:p.Q223X,TTK:NM_003318:exon6:c.C667T:p.Q223X",".",".","rs774728669",{"v":8.3e-06,"d":"8.30E-06"},0,0,0,0,{"v":1.51e-05,"d":"1.51E-05"},0,0,".",".",".",".",".",".",".",".",".",".",".",".",0.05,"N",1,"A",".",".",".",".",".",".",".",12.14,38,0.998,0.821,"D",".",".",".",".",0.706,0,5.23,0.871,0.935,0.992,0.998,14.649,"FamilyBased&CaseControl",".","ASD","WES",".",2]
[1360,25363760,6,87215999,87215999,"C","T","DeNovo",".",".","6q14.3","exonic","ZNF292",23036,".","stopgain","ZNF292:NM_015021:exon2:c.C265T:p.R89X",".",".","rs865909396",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"A",".",".",".",".",".",".",".",10.997,37,0.997,0.826,"D",".",".",".",".",0.732,0,4.81,0.871,0.935,0.992,0.999,18.238,"FamilyBased&CaseControl",".","ASD","WES",".",2]
[1365,25363760,6,108912392,108912392,"T","A","DeNovo",".",".","6q21","exonic","ARMC2",84071,".","stopgain","ARMC2:NM_001286609:exon9:c.T689A:p.L230X,ARMC2:NM_032131:exon10:c.T1184A:p.L395X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",12.054,38,0.991,0.939,"D",".",".",".",".",0.554,0,5.88,0.991,1.061,0.997,0.985,16.302,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[1369,25363760,6,116632228,116632228,"A","G","DeNovo",".",".","6q22.1","exonic","RSPH4A",345895,".","stoploss","RSPH4A:NM_001161664:exon5:c.A1802G:p.X601W","Ciliary dyskinesia, primary, 11",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.051,"T",0.9,"P",0.493,"P",1E-3,"N",1,"N",".",".",2.1,"T",-1.96,"N",0.415,3.257,22.8,0.901,0.734,"D",-1.058,"T",0.029,"T",0.476,0,3.68,0.126,1.088,0.998,1,4.165,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[1383,25363760,6,157167137,157167137,"C","T","DeNovo",".",".","6q25.3","exonic","ARID1B",57492,".","stopgain","ARID1B:NM_001346813:exon9:c.C2938T:p.Q980X,ARID1B:NM_017519:exon9:c.C2938T:p.Q980X,ARID1B:NM_020732:exon10:c.C2977T:p.Q993X","Coffin-Siris syndrome 1, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",13.813,43,0.998,0.995,"D",".",".",".",".",0.719,0,5.75,0.871,0.935,0.108,0.886,19.96,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[1384,25363760,6,157167180,157167180,"C","A","DeNovo",".",".","6q25.3","exonic","ARID1B",57492,".","stopgain","ARID1B:NM_001346813:exon9:c.C2981A:p.S994X,ARID1B:NM_017519:exon9:c.C2981A:p.S994X,ARID1B:NM_020732:exon10:c.C3020A:p.S1007X","Coffin-Siris syndrome 1, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",2E-3,"N",1,"A",".",".",".",".",".",".",".",14.283,45,0.997,0.99,"D",".",".",".",".",0.719,0,5.75,0.871,0.935,0.91,0.765,19.96,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[1385,25363760,6,157206256,157206256,"C","CG","DeNovo",".",".","6q25.3","exonic","ARID1B",57492,".","frameshift substitution","ARID1B:NM_017519:exon19:c.5076delinsCG:p.P1693Afs*7,ARID1B:NM_001346813:exon20:c.5235delinsCG:p.P1746Afs*7,ARID1B:NM_020732:exon20:c.5115delinsCG:p.P1706Afs*7","Coffin-Siris syndrome 1, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased&CaseControl",".","ASD","WES",".",1]
[1395,25363760,7,680615,680615,"G","A","DeNovo",".",".","7p22.3","exonic","PRKAR1B",5575,".","stopgain","PRKAR1B:NM_001164758:exon3:c.C289T:p.R97X,PRKAR1B:NM_001164759:exon3:c.C289T:p.R97X,PRKAR1B:NM_001164760:exon3:c.C289T:p.R97X,PRKAR1B:NM_001164761:exon3:c.C289T:p.R97X,PRKAR1B:NM_001164762:exon3:c.C289T:p.R97X,PRKAR1B:NM_002735:exon3:c.C289T:p.R97X",".","ID=COSM1451885;OCCURENCE=1(large_intestine)",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"U",1,"A",".",".",".",".",".",".",".",10.948,37,0.998,0.79,"D",".",".",".",".",0.707,0,3.96,0.917,1.048,0.104,0.324,10.741,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[1399,25363760,7,2002118,2002118,"G","A","DeNovo",".",".","7p22.3","exonic","MAD1L1",8379,".","stopgain","MAD1L1:NM_001304524:exon12:c.C1087T:p.Q363X,MAD1L1:NM_001304523:exon13:c.C1363T:p.Q455X,MAD1L1:NM_001013836:exon14:c.C1363T:p.Q455X,MAD1L1:NM_001013837:exon14:c.C1363T:p.Q455X,MAD1L1:NM_003550:exon14:c.C1363T:p.Q455X","Lymphoma, somatic (3);Prostate cancer, somatic",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",14.08,44,0.998,0.95,"D",".",".",".",".",0.732,0,5.51,0.917,0.953,0.985,0.993,16.558,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[1413,25363760,7,24892382,24892382,"G","A","DeNovo",".",".","7p15.3","exonic","OSBPL3",26031,".","stopgain","OSBPL3:NM_145320:exon1:c.C91T:p.R31X,OSBPL3:NM_145321:exon1:c.C91T:p.R31X,OSBPL3:NM_145322:exon1:c.C91T:p.R31X,OSBPL3:NM_015550:exon2:c.C91T:p.R31X",".",".","rs367598759",{"v":2.49e-05,"d":"2.49E-05"},0,0,0,0,{"v":3.01E-5,"d":"3.01E-05"},0,{"v":6.13e-05,"d":"6.13E-05"},".",".",".",".",".",".",".",".",".",".",".",".",0.006,"N",1,"A",".",".",".",".",".",".",".",12.147,38,0.998,0.905,"D",".",".",".",".",0.722,0,5.87,0.917,1.048,0.996,0.971,15.766,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[1434,25363760,7,81707349,81707349,"G","T","DeNovo",".",".","7q21.11","exonic","HGF",3082,".","stopgain","HGF:NM_000601:exon14:c.C1557A:p.C519X,HGF:NM_001010932:exon14:c.C1542A:p.C514X","Deafness, autosomal recessive 39, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",10.531,36,0.979,0.333,"N",".",".",".",".",0.487,0,-6.92,0.045,-0.024,0.998,0.999,19.951,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[1438,25363760,7,95528067,95528067,"C","T","DeNovo",".",".","7q21.3","exonic","ASB4",51666,".","stopgain","ASB4:NM_016116:exon3:c.C742T:p.R248X,ASB4:NM_145872:exon3:c.C742T:p.R248X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",11.052,37,0.997,0.562,"D",".",".",".",".",0.526,0,0.741,-0.444,-0.432,0.109,0.248,15.554,"FamilyBased&CaseControl",".","ASD","WES",".",2]
[1452,25363760,7,100992859,100992859,"G","T","DeNovo",".",".","7q22.1","exonic","MUC12",10071,".","stopgain","MUC12:NM_001164462:exon2:c.G2296T:p.E766X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"A",".",".",".",".",".",".",".",6.565,31,0.99,0.005,"N",".",".",".",".",0.554,0,0.481,0.43,-0.473,0.178,1E-3,2.91,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[1456,25363760,7,103682156,103682156,"G","A","DeNovo",".",".","7q22.1","exonic","RELN",5649,".","stopgain","RELN:NM_005045:exon11:c.C1249T:p.Q417X,RELN:NM_173054:exon11:c.C1249T:p.Q417X","Lissencephaly 2 (Norman-Roberts type), Autosomal recessive;Lissencephaly 2 (Norman-Roberts type), Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",11.74,38,0.998,0.96,"D",".",".",".",".",0.595,0,5.73,0.917,1.048,1,1,20.26,"FamilyBased&CaseControl",".","ASD","WES",".",2]
[1458,25363760,7,105143249,105143249,"G","A","DeNovo",".",".","7q22.3","exonic","SRPK2",6733,".","stopgain","SRPK2:NM_001350739:exon9:c.C862T:p.Q288X,SRPK2:NM_001350744:exon9:c.C862T:p.Q288X,SRPK2:NM_001350745:exon9:c.C724T:p.Q242X,SRPK2:NM_182691:exon9:c.C862T:p.Q288X,SRPK2:NM_001350740:exon10:c.C1006T:p.Q336X,SRPK2:NM_001350741:exon10:c.C895T:p.Q299X,SRPK2:NM_182692:exon10:c.C895T:p.Q299X,SRPK2:NM_001278273:exon11:c.C862T:p.Q288X,SRPK2:NM_001350738:exon11:c.C862T:p.Q288X,SRPK2:NM_001350742:exon11:c.C973T:p.Q325X,SRPK2:NM_001350743:exon11:c.C862T:p.Q288X,SRPK2:NM_001350746:exon11:c.C973T:p.Q325X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",11.503,37,0.998,0.957,"D",".",".",".",".",0.706,0,5.68,0.917,1.048,0.997,1,19.796,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[1479,25363760,7,148798021,148798021,"T","A","DeNovo",".",".","7q36.1","splicing","CUL1",8454,"NM_003592:exon19:c.2030+2T>A",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",5.189,25.5,0.995,0.987,"D",".",".",".",".",0.156,0,5.02,0.991,1.056,1,0.997,13.936,"FamilyBased&CaseControl",".","ASD","WES",".",2]
[1481,25363760,7,150371710,150371710,"C","T","DeNovo",".",".","7q36.1","exonic","REPIN1",29803,".","stopgain","REPIN1:NM_014374:exon1:c.C469T:p.R157X,REPIN1:NM_001099696:exon2:c.C469T:p.R157X,REPIN1:NM_001099695:exon3:c.C640T:p.R214X,REPIN1:NM_013400:exon4:c.C469T:p.R157X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",9.837,36,0.997,0.283,"N",".",".",".",".",0.707,0,2.8,-0.064,0.935,0.658,0.998,6.723,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[1493,25363760,8,6643025,6643025,"T","A","DeNovo",".",".","8p23.1","exonic","MCPH1",79648,".","stoploss","MCPH1:NM_001322042:exon15:c.T2626A:p.X876R","Microcephaly 1, primary, autosomal recessive, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased&CaseControl",".","ASD","WES",".",2]
[1506,25363760,8,27240164,27240164,"T","C","DeNovo",".",".","8p21.2","splicing","STMN4",81551,"NM_001283054:exon5:c.319-2A>G;NM_030795:exon6:c.400-2A>G;NM_001283055:exon4:c.292-2A>G;NM_001283053:exon6:c.400-2A>G",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",4.633,24.5,0.995,0.984,"D",".",".",".",".",0.061,0,5.39,0.991,1.061,0.972,0.782,13.38,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[1508,25363760,8,27659479,27659479,"G","T","DeNovo",".",".","8p21.1","exonic","SCARA3",51435,".","stopgain","SCARA3:NM_016240:exon5:c.G1309T:p.E437X,SCARA3:NM_182826:exon5:c.G1309T:p.E437X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",14.049,44,0.997,0.995,"D",".",".",".",".",0.706,0,5.93,0.917,1.048,1,1,17.848,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[1525,25363760,8,66666895,66666895,"G","A","DeNovo",".",".","8q13.1","exonic","VCPIP1",80124,".","stopgain","VCPIP1:NM_025054:exon1:c.C64T:p.Q22X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.024,"N",1,"A",".",".",".",".",".",".",".",9.279,35,0.997,0.787,"D",".",".",".",".",0.267,1,4.59,-0.044,1.048,0.943,1,11.379,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[1528,25363760,8,86575886,86575886,"G","T","DeNovo",".",".","8q21.3","exonic","CNGB3",54714,".","stopgain","CNGB3:NM_019098:exon18:c.C2348A:p.S783X","Achromatopsia 3, Autosomal recessive;Macular degeneration, juvenile, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",".",".",".",".",".",".",".",12.837,40,0.996,0.924,"D",".",".",".",".",0.487,0,5.03,-0.029,0.12,0.015,0.847,12.764,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[1538,25363760,8,129748540,129748540,"A","T","DeNovo",".",".","8q24.21","exonic","GSDMC",56169,".","stopgain","GSDMC:NM_031415:exon14:c.T1488A:p.Y496X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1E-3,"D",0.929,"D",".",".",".",".",".",".",".",9.356,35,0.982,0.118,"N",".",".",".",".",0.657,0,-2.4,0.075,1.14,0.029,0.358,9.321,"FamilyBased&CaseControl",".","ASD","WES",".",2]
[1564,25363760,9,33468869,33468869,"G","A","DeNovo",".",".","9p13.3","exonic","NOL6",65083,".","stopgain","NOL6:NM_022917:exon8:c.C1030T:p.Q344X,NOL6:NM_139235:exon8:c.C1030T:p.Q344X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.957,"N",1,"A",".",".",".",".",".",".",".",7.369,34,0.996,0.189,"N",".",".",".",".",0.707,0,2.06,-0.045,1.048,0.201,0.285,4.418,"FamilyBased&CaseControl",".","ASD","WES",".",2]
[1573,25363760,9,72360174,72360174,"G","A","DeNovo",".",".","9q21.13","exonic","ZFAND5",7763,".","stopgain","ZFAND5:NM_001102421:exon3:c.C199T:p.Q67X,ZFAND5:NM_001278244:exon3:c.C199T:p.Q67X,ZFAND5:NM_006007:exon3:c.C199T:p.Q67X,ZFAND5:NM_001102420:exon4:c.C199T:p.Q67X,ZFAND5:NM_001278243:exon4:c.C199T:p.Q67X,ZFAND5:NM_001278245:exon4:c.C199T:p.Q67X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.938,"U",1,"A",".",".",".",".",".",".",".",11.275,37,0.998,0.98,"D",".",".",".",".",0.722,0,6.04,0.917,1.048,0.998,1,20.595,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[1587,25363760,9,127448376,127448376,"G","A","DeNovo",".",".","9q33.3","exonic","RPL12",6136,".","stopgain","RPL12:NM_000976:exon5:c.C340T:p.R114X",".",".","rs749065420",{"v":8.24e-06,"d":"8.24E-06"},0,{"v":8.64e-05,"d":"8.64E-05"},0,0,0,0,0,".",".",".",".",".",".",".",".",".",".",".",".",0,"U",1,"A",".",".",".",".",".",".",".",12.123,38,0.997,0.982,"D",".",".",".",".",0.628,0,4.21,0.917,0.105,0.999,0.998,12.786,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[1589,25363760,9,127813358,127813358,"A","AC","DeNovo",".",".","9q34.11","exonic","FPGS",2356,".","frameshift substitution","FPGS:NM_001288803:exon14:c.1440delinsAC:p.H482Pfs*32,FPGS:NM_001018078:exon15:c.1368delinsAC:p.H458Pfs*32,FPGS:NM_004957:exon15:c.1518delinsAC:p.H508Pfs*32",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased&CaseControl",".","ASD","WES",".",2]
[1609,25363760,10,29480696,29480696,"C","A","DeNovo",".",".","10p11.23","exonic","SVIL",6840,".","stopgain","SVIL:NM_003174:exon27:c.G3940T:p.E1314X,SVIL:NM_001323600:exon28:c.G4036T:p.E1346X,SVIL:NM_021738:exon29:c.G5218T:p.E1740X,SVIL:NM_001323599:exon30:c.G4288T:p.E1430X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",12.91,40,0.995,0.962,"D",".",".",".",".",0.706,0,3.51,0.871,0.79,0.972,0.958,14.534,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[1618,25363760,10,62000217,62000217,"T","TG","DeNovo",".",".","10q21.2","exonic","ARID5B",84159,".","frameshift substitution","ARID5B:NM_032199:exon4:c.629delinsTG:p.I213Hfs*18",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased&CaseControl",".","ASD","WES",".",1]
[1635,25363760,10,87952117,87952117,"G","A","DeNovo",".",".","10q23.31","splicing","PTEN",5728,"NM_001304717:exon7:c.1012-1G>A;NM_001304718:exon6:UTR5;NM_000314:exon6:c.493-1G>A",".",".","Bannayan-Riley-Ruvalcaba syndrome, Autosomal dominant;Cowden syndrome 1, Autosomal dominant;Endometrial carcinoma, somatic;Lhermitte-Duclos syndrome, Autosomal dominant;Macrocephaly/autism syndrome, Autosomal dominant;Malignant melanoma, somatic;PTEN hamartoma tumor syndrome (3);Squamous cell carcinoma, head and neck, somatic;VATER association with macrocephaly and ventriculomegaly, Autosomal recessive","ID=COSM5961;OCCURENCE=1(prostate),1(large_intestine),2(central_nervous_system)","rs786204862",".",".",".",".",".",".",".",".",".","Pathogenic","not_provided","RCV000169802.2","MedGen","CN221809",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",5.289,25.7,0.995,0.967,"D",".",".",".",".",0.257,0,5.74,0.917,0.998,0.957,1,19.931,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[1643,25363760,10,101462059,101462059,"G","A","DeNovo",".",".","10q24.32","splicing","BTRC",8945,"NM_003939:exon2:c.126+1G>A;NM_033637:exon3:c.234+1G>A",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",5.033,25.2,0.989,0.968,"D",".",".",".",".",0.165,0,5.27,0.917,1.03,1,1,15.756,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[1650,25363760,10,105245611,105245611,"C","T","DeNovo",".",".","10q25.1","exonic","SORCS3",22986,".","stopgain","SORCS3:NM_014978:exon21:c.C2938T:p.Q980X",".",".","rs374153830",{"v":8.24e-06,"d":"8.24E-06"},0,0,0,0,{"v":1.5E-5,"d":"1.50E-05"},0,0,".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",15.056,49,0.998,0.983,"D",".",".",".",".",0.554,0,5.96,0.871,0.935,1,1,20.404,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[1669,25363760,11,1449775,1449775,"G","C","DeNovo",".",".","11p15.5","splicing","BRSK2",9024,"NM_003957:exon13:c.1227-1G>C;NM_001256627:exon13:c.1227-1G>C;NM_001256629:exon13:c.1227-1G>C;NM_001282218:exon13:c.1047-1G>C;NM_001256630:exon13:c.1365-1G>C",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",3.264,22.8,0.991,0.996,"D",".",".",".",".",0.091,0,3.43,0.917,0.824,0.788,0.428,14.64,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[1674,25363760,11,4955521,4955521,"G","GA","DeNovo",".",".","11p15.4","exonic","OR51A2",401667,".","frameshift substitution","OR51A2:NM_001004748:exon1:c.193delinsTC:p.L65Sfs*29",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased&CaseControl",".","ASD","WES",".",1]
[1682,25363760,11,9141973,9141973,"C","T","DeNovo",".",".","11p15.4","exonic;splicing","DENND5A;DENND5A","23258;23258","NM_001243254:exon22:c.3646+1G>A;NM_001243254:exon22:c.3646+1G>A","nonsynonymous SNV","DENND5A:NM_001348749:exon21:c.G3575A:p.G1192D,DENND5A:NM_015213:exon22:c.G3647A:p.G1216D,DENND5A:NM_001348748:exon23:c.G3647A:p.G1216D,DENND5A:NM_001348750:exon23:c.G3359A:p.G1120D",".",".","rs866752020",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.003,"D",1,"D",1,"D",0,"D",1,"D",2.2,"M",2.19,"T",-5.25,"D",0.643,5.638,26.6,0.987,0.989,"D",-0.903,"T",0.137,"T",0.707,0,4.65,0.871,0.935,0.998,0.996,14.451,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[1720,25363760,11,63575047,63575047,"C","G","DeNovo",".",".","11q12.3","splicing","PLA2G16",11145,"NM_007069:exon4:c.388-1G>C;NM_001128203:exon5:c.388-1G>C",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",5.48,26.2,0.995,0.795,"D",".",".",".",".",0.295,0,5.24,0.598,0.935,0.915,0.998,15.053,"FamilyBased&CaseControl",".","ASD","WES",".",2]
[1726,25363760,11,65795162,65795162,"C","CG","DeNovo",".",".","11q13.1","exonic","OVOL1",5017,".","frameshift substitution","OVOL1:NM_004561:exon4:c.625delinsCG:p.A210Gfs*7",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased&CaseControl",".","ASD","WES",".",1]
[1729,25363760,11,66487343,66487343,"G","A","DeNovo",".",".","11q13.2","splicing","DPP3",10072,"NM_001256670:exon4:c.483+1G>A;NM_130443:exon5:c.573+1G>A;NM_005700:exon5:c.573+1G>A",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",5.592,26.5,0.994,0.997,"D",".",".",".",".",0.295,0,4.89,0.917,1.048,0.914,0.958,15.913,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[1735,25363760,11,68157999,68157999,"G","A","DeNovo",".",".","11q13.2","exonic","KMT5B",51111,".","stopgain","KMT5B:NM_001300908:exon11:c.C1627T:p.R543X,KMT5B:NM_017635:exon11:c.C2347T:p.R783X,KMT5B:NM_001300907:exon12:c.C1831T:p.R611X",".","ID=COSM931209;OCCURENCE=1(endometrium)",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",".",".",".",".",".",".",".",12.607,39,0.998,0.976,"D",".",".",".",".",0.651,0,5.39,0.917,0.923,0.806,0.977,19.14,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[1743,25363760,11,76523278,76523278,"T","A","DeNovo",".",".","11q13.5","exonic","EMSY",56946,".","stopgain","EMSY:NM_001300943:exon12:c.T1811A:p.L604X,EMSY:NM_020193:exon12:c.T1808A:p.L603X,EMSY:NM_001300942:exon13:c.T1853A:p.L618X,EMSY:NM_001300944:exon13:c.T1853A:p.L618X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",12.515,39,0.991,0.907,"D",".",".",".",".",0.707,0,5.43,0.991,1.061,0.998,0.998,15.477,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[1751,25363760,11,102331010,102331010,"G","T","DeNovo",".",".","11q22.2","exonic","BIRC3",330,".","stopgain","BIRC3:NM_001165:exon6:c.G1093T:p.E365X,BIRC3:NM_182962:exon7:c.G1093T:p.E365X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",13.676,43,0.996,0.99,"D",".",".",".",".",0.672,0,5.28,0.917,1.029,0.797,0.905,19.092,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[1779,25363760,12,6770174,6770174,"G","T","DeNovo",".",".","12p13.31","exonic","PTMS",5763,".","stopgain","PTMS:NM_002824:exon4:c.G214T:p.E72X",".",".","rs747393791",0,0,0,0,0,0,0,0,".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",-0.46,"N",".",13.129,41,0.993,0.862,"D",-0.503,"T",0.275,"T",0.706,0,3.32,0.63,0.823,0.961,0.987,10.385,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[1780,25363760,12,7357425,7357425,"A","AG","DeNovo",".",".","12p13.31","exonic","CD163L1",283316,".","frameshift substitution","CD163L1:NM_001297650:exon19:c.4371delinsCT:p.A1458Cfs*3,CD163L1:NM_174941:exon19:c.4341delinsCT:p.A1448Cfs*3",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased&CaseControl",".","ASD","WES",".",1]
[1786,25363760,12,20875478,20875478,"G","A","DeNovo",".",".","12p12.2","splicing","SLCO1B3",28234,"NM_019844:exon9:c.970+1G>A;NM_001349920:exon7:c.886+1G>A",".",".","Hyperbilirubinemia, Rotor type, digenic, Digenic recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",2.849,21.6,0.979,0.964,"D",".",".",".",".",0.061,0,3.9,0.913,0.81,0.069,0.093,13.834,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[1793,25363760,12,45016446,45016446,"G","C","DeNovo",".",".","12q12","exonic","DBX2",440097,".","stopgain","DBX2:NM_001004329:exon4:c.C860G:p.S287X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.216,"N",1,"D",".",".",".",".",".",".",".",10.81,36,0.993,0.526,"D",".",".",".",".",0.487,0,3.89,0.917,1.048,0.999,0.934,9.744,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[1794,25363760,12,47737592,47737592,"C","CG","DeNovo",".",".","12q13.11","exonic","RAPGEF3",10411,".","frameshift substitution","RAPGEF3:NM_001098532:exon27:c.2621delinsCG:p.R874Pfs*80,RAPGEF3:NM_001098531:exon28:c.2747delinsCG:p.R916Pfs*80,RAPGEF3:NM_006105:exon28:c.2621delinsCG:p.R874Pfs*80",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased&CaseControl",".","ASD","WES",".",1]
[1804,25363760,12,54399938,54399938,"C","A","DeNovo",".",".","12q13.13","exonic","ITGA5",3678,".","stopgain","ITGA5:NM_002205:exon26:c.G2653T:p.E885X",".",".","rs867921931",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.955,"N",1,"A",".",".",".",".",".",".",".",11.245,37,0.994,0.182,"N",".",".",".",".",0.672,0,2.61,0.598,0.935,0.161,0.012,5.969,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[1807,25363760,12,56172584,56172584,"C","A","DeNovo",".",".","12q13.2","splicing","SMARCC2",6601,"NM_139067:exon19:c.1863+1G>T;NM_003075:exon18:c.1770+1G>T;NM_001330288:exon19:c.1863+1G>T;NM_001130420:exon19:c.1863+1G>T;NM_139067:exon19:c.1863+1G>T;NM_003075:exon18:c.1770+1G>T;NM_001330288:exon19:c.1863+1G>T;NM_001130420:exon19:c.1863+1G>T",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",5.367,25.9,0.994,0.988,"D",".",".",".",".",0.284,0,5.15,0.598,0.927,0.938,0.99,17.789,"FamilyBased&CaseControl",".","ASD","WES",".",2]
[1822,25363760,12,70698322,70698322,"T","A","DeNovo",".",".","12q15","exonic","PTPRR",5801,".","stopgain","PTPRR:NM_130846:exon4:c.A487T:p.K163X,PTPRR:NM_001207016:exon5:c.A604T:p.K202X,PTPRR:NM_001207015:exon7:c.A886T:p.K296X,PTPRR:NM_002849:exon8:c.A1222T:p.K408X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1E-3,"D",1,"A",".",".",".",".",".",".",".",13.56,42,0.997,0.977,"D",".",".",".",".",0.616,0,5.79,0.991,1.061,1,1,16.132,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[1846,25363760,12,111310679,111310679,"C","T","DeNovo",".",".","12q24.12","exonic","CUX2",23316,".","stopgain","CUX2:NM_015267:exon15:c.C1897T:p.R633X",".","ID=COSM1358754;OCCURENCE=1(large_intestine)","rs763884354",{"v":9.26e-06,"d":"9.26E-06"},0,0,0,0,{"v":1.64e-05,"d":"1.64E-05"},0,0,".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",11.816,38,0.998,0.885,"D",".",".",".",".",0.646,0,2.77,0.871,0.735,0.998,0.994,11.499,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[1850,25363760,12,112176602,112176602,"G","A","DeNovo",".",".","12q24.13","exonic","HECTD4",283450,".","stopgain","HECTD4:NM_001109662:exon65:c.C11062T:p.Q3688X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"A",".",".",".",".",".",".",".",14.784,47,0.995,0.972,"D",".",".",".",".",0.707,0,5.7,0.917,1.048,1,1,19.453,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[1853,25363760,12,113099964,113099964,"G","A","DeNovo",".",".","12q24.13","exonic","RASAL1",8437,".","stopgain","RASAL1:NM_001193521:exon21:c.C2296T:p.R766X,RASAL1:NM_001301202:exon21:c.C2383T:p.R795X,RASAL1:NM_001193520:exon22:c.C2386T:p.R796X,RASAL1:NM_004658:exon22:c.C2380T:p.R794X",".",".","rs749579265",{"v":8.35e-06,"d":"8.35E-06"},0,0,0,0,0,0,{"v":6.1e-05,"d":"6.10E-05"},".",".",".",".",".",".",".",".",".",".",".",".",0.781,"N",1,"N",".",".",".",".",".",".",".",8.074,35,0.938,0.194,"N",".",".",".",".",0.701,0,-2.06,-0.547,-0.22,1E-3,0,2.962,"FamilyBased&CaseControl",".","ASD","WES",".",2]
[1868,25363760,12,131982386,131982386,"A","ATCCC","DeNovo",".",".","12q24.33","exonic","EP400",57634,".","frameshift substitution","EP400:NM_015409:exon5:c.1837delinsATCCC:p.Q617Lfs*75",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased&CaseControl",".","ASD","WES",".",2]
[1904,25363760,14,24261826,24261826,"C","CG","DeNovo",".",".","14q12","exonic","TGM1",7051,".","frameshift substitution","TGM1:NM_000359:exon3:c.377delinsCG:p.R126Pfs*10","Ichthyosis, congenital, autosomal recessive 1, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased&CaseControl",".","ASD","WES",".",1]
[1919,25363760,14,45102603,45102603,"G","A","DeNovo",".",".","14q21.2","exonic","PRPF39",55015,".","stopgain","PRPF39:NM_017922:exon5:c.G644A:p.W215X",".",".","rs867103696",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",12.096,38,0.995,0.994,"D",".",".",".",".",0.732,0,5.62,0.917,1.048,1,1,19.256,"FamilyBased&CaseControl",".","ASD","WES",".",2]
[1939,25363760,14,88568095,88568095,"C","T","DeNovo",".",".","14q31.3","exonic","ZC3H14",79882,".","stopgain","ZC3H14:NM_001160103:exon3:c.C136T:p.Q46X,ZC3H14:NM_001160104:exon3:c.C136T:p.Q46X,ZC3H14:NM_001326295:exon3:c.C136T:p.Q46X,ZC3H14:NM_001326296:exon3:c.C136T:p.Q46X,ZC3H14:NM_001326297:exon3:c.C34T:p.Q12X,ZC3H14:NM_001326298:exon3:c.C136T:p.Q46X,ZC3H14:NM_001326299:exon3:c.C136T:p.Q46X,ZC3H14:NM_001326301:exon3:c.C34T:p.Q12X,ZC3H14:NM_001326303:exon3:c.C34T:p.Q12X,ZC3H14:NM_001326306:exon3:c.C136T:p.Q46X,ZC3H14:NM_001326307:exon3:c.C136T:p.Q46X,ZC3H14:NM_001326310:exon3:c.C136T:p.Q46X,ZC3H14:NM_001326312:exon3:c.C136T:p.Q46X,ZC3H14:NM_001326313:exon3:c.C136T:p.Q46X,ZC3H14:NM_001326315:exon3:c.C34T:p.Q12X,ZC3H14:NM_001326316:exon3:c.C34T:p.Q12X,ZC3H14:NM_024824:exon3:c.C136T:p.Q46X,ZC3H14:NM_207660:exon3:c.C136T:p.Q46X,ZC3H14:NM_207661:exon3:c.C34T:p.Q12X","Mental retardation, autosomal recessive 56, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",11.533,37,0.998,0.987,"D",".",".",".",".",0.719,0,5.62,0.871,0.935,1,1,19.669,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[1955,25363760,14,103675727,103675727,"C","CG","DeNovo",".",".","14q32.33","exonic","KLC1",3831,".","frameshift substitution","KLC1:NM_001130107:exon11:c.1350delinsCG:p.W452Lfs*8,KLC1:NM_005552:exon11:c.1350delinsCG:p.W452Lfs*8,KLC1:NM_182923:exon11:c.1350delinsCG:p.W452Lfs*8",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased&CaseControl",".","ASD","WES",".",1]
[1986,25363760,15,51949943,51949943,"G","A","DeNovo",".",".","15q21.2","exonic","LEO1",123169,".","stopgain","LEO1:NM_001286430:exon8:c.C1483T:p.R495X,LEO1:NM_001323903:exon10:c.C1663T:p.R555X,LEO1:NM_001323904:exon10:c.C1663T:p.R555X,LEO1:NM_138792:exon10:c.C1663T:p.R555X",".",".","rs774535800",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",13.826,43,0.997,0.942,"D",".",".",".",".",0.707,0,4.61,-0.045,1.048,0.993,1,17.826,"FamilyBased&CaseControl",".","ASD","WES",".",2]
[1990,25363760,15,56095600,56095600,"C","CT","DeNovo",".",".","15q21.3","exonic","RFX7",64864,".","frameshift substitution","RFX7:NM_022841:exon9:c.2128delinsAG:p.A710Sfs*7",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased&CaseControl",".","ASD","WES",".",2]
[2006,25363760,15,75955930,75955930,"A","C","DeNovo",".",".","15q24.2","splicing","NRG4",145957,"NM_138573:exon5:c.331+2T>G",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",3.106,22.5,0.981,0.918,"D",".",".",".",".",0.075,0,5.06,1.062,1.199,0.546,0.019,12.183,"FamilyBased&CaseControl",".","ASD","WES",".",2]
[2012,25363760,15,88881642,88881642,"A","AG","DeNovo",".",".","15q26.1","exonic","HAPLN3",145864,".","frameshift substitution","HAPLN3:NM_178232:exon3:c.208delinsCT:p.C70Lfs*59,HAPLN3:NM_001307952:exon4:c.394delinsCT:p.C132Lfs*59",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased&CaseControl",".","ASD","WES",".",1]
[2049,25363760,16,28499659,28499659,"G","A","DeNovo",".",".","16p12.1","exonic","IL27",246778,".","stopgain","IL27:NM_145659:exon5:c.C724T:p.Q242X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"N",".",".",".",".",".",".",".",7.421,34,0.871,0.064,"N",".",".",".",".",0.517,0,0.87,-0.02,-0.415,0.062,0.004,5.387,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[2082,25363760,16,84480534,84480534,"G","A","DeNovo",".",".","16q24.1","exonic","TLDC1",57707,".","stopgain","TLDC1:NM_020947:exon7:c.C1252T:p.Q418X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.278,"N",1,"D",".",".",".",".",".",".",".",6.582,31,0.96,0.07,"N",".",".",".",".",0.706,0,-6.87,-0.958,-0.391,0,0,5.289,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[2117,25363760,17,12984654,12984654,"C","A","DeNovo",".",".","17p12","exonic","ARHGAP44",9912,".","stopgain","ARHGAP44:NM_001321168:exon18:c.C1445A:p.S482X,ARHGAP44:NM_001321164:exon19:c.C2045A:p.S682X,ARHGAP44:NM_001321166:exon19:c.C2045A:p.S682X,ARHGAP44:NM_001321167:exon20:c.C2063A:p.S688X,ARHGAP44:NM_014859:exon20:c.C2063A:p.S688X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",11.954,38,0.994,0.978,"D",".",".",".",".",0.706,0,5.13,0.871,0.847,0.913,0.072,16.064,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[2135,25363760,17,31884443,31884443,"G","A","DeNovo",".",".","17q11.2","exonic","UTP6",55813,".","stopgain","UTP6:NM_018428:exon10:c.C766T:p.Q256X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",13.728,43,0.998,0.988,"D",".",".",".",".",0.732,0,5.39,0.917,0.944,0.99,0.995,18.748,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[2141,25363760,17,36587036,36587036,"C","T","DeNovo",".",".","17q12","exonic","GGNBP2",79893,".","stopgain","GGNBP2:NM_024835:exon13:c.C1681T:p.R561X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",13.673,43,0.997,0.874,"D",".",".",".",".",0.707,0,5.93,0.871,0.92,1,1,14.356,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[2145,25363760,17,40645621,40645621,"T","C","DeNovo",".",".","17q21.2","splicing","SMARCE1",6605,"NM_003079:exon3:c.8-2A>G",".",".","Coffin-Siris syndrome 5, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",4.234,23.9,0.993,0.997,"D",".",".",".",".",0.125,0,5.96,0.991,1.061,1,1,16.428,"FamilyBased&CaseControl",".","ASD","WES",".",2]
[2151,25363760,17,41763099,41763099,"G","GGCGCAGA","DeNovo",".",".","17q21.2","exonic","JUP",3728,".","frameshift substitution","JUP:NM_002230:exon8:c.1381delinsTCTGCGCC:p.H461Sfs*6,JUP:NM_021991:exon8:c.1381delinsTCTGCGCC:p.H461Sfs*6","Arrhythmogenic right ventricular dysplasia 12, Autosomal dominant;Naxos disease, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased&CaseControl",".","ASD","WES",".",1]
[2164,25363760,17,44750762,44750762,"C","T","DeNovo",".",".","17q21.31","exonic","DBF4B",80174,".","stopgain","DBF4B:NM_145663:exon14:c.C1357T:p.Q453X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"N",1,"D",".",".",".",".",".",".",".",5.369,25.9,0.804,0.01,"N",".",".",".",".",0.66,0,1.65,-0.506,-0.05,2E-3,1E-3,8.497,"FamilyBased&CaseControl",".","ASD","WES",".",2]
[2179,25363760,17,59041899,59041899,"C","T","DeNovo",".",".","17q22","splicing","TRIM37",4591,"NM_001320989:exon17:c.1668-1G>A;NM_001005207:exon17:c.1668-1G>A;NM_015294:exon17:c.1668-1G>A;NM_001320987:exon16:c.1566-1G>A;NM_001320988:exon17:c.1668-1G>A;NM_001320990:exon18:c.1302-1G>A",".",".","Mulibrey nanism, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",5.72,26.9,0.993,0.987,"D",".",".",".",".",0.164,0,5.86,0.871,0.92,0.99,0.863,20.186,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[2199,25363760,17,78525074,78525074,"T","A","DeNovo",".",".","17q25.3","exonic","DNAH17",8632,".","stopgain","DNAH17:NM_173628:exon25:c.A3799T:p.K1267X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"A",".",".",".",".",".",".",".",11.654,37,0.997,0.985,"D",".",".",".",".",0.554,0,4.4,0.991,0.954,0.997,0.996,13.621,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[2219,25363760,18,32287141,32287141,"G","A","DeNovo",".",".","18q12.1","exonic","GAREM1",64762,".","stopgain","GAREM1:NM_001242409:exon4:c.C1456T:p.R486X,GAREM1:NM_022751:exon4:c.C1456T:p.R486X",".",".","rs778300861",{"v":8.24e-06,"d":"8.24E-06"},0,0,0,0,{"v":1.5E-5,"d":"1.50E-05"},0,0,".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",8.35,35,0.997,0.93,"D",".",".",".",".",0.633,0,3.24,-0.026,0.079,0.004,0.27,9.598,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[2222,25363760,18,33742954,33742954,"C","T","DeNovo",".",".","18q12.1","exonic","ASXL3",80816,".","stopgain","ASXL3:NM_030632:exon12:c.C3106T:p.R1036X","Bainbridge-Ropers syndrome",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.331,"N",1,"D",".",".",".",".",".",".",".",11.306,37,0.998,0.889,"D",".",".",".",".",0.487,0,3.94,-0.8,0.02,0.629,0.26,14.473,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[2223,25363760,18,33744017,33744017,"C","CT","DeNovo",".",".","18q12.1","exonic","ASXL3",80816,".","frameshift substitution","ASXL3:NM_030632:exon12:c.4169delinsCT:p.V1391Cfs*9","Bainbridge-Ropers syndrome",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased&CaseControl",".","ASD","WES",".",2]
[2231,25363760,19,1619178,1619178,"G","GT","DeNovo",".",".","19p13.3","exonic","TCF3",6929,".","frameshift substitution","TCF3:NM_001136139:exon15:c.1383delinsAC:p.N461Kfs*14,TCF3:NM_003200:exon16:c.1383delinsAC:p.N461Kfs*14","Agammaglobulinemia 8, autosomal dominant, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased&CaseControl",".","ASD","WES",".",1]
[2247,25363760,19,5135426,5135426,"C","T","DeNovo",".",".","19p13.3","exonic","KDM4B",23030,".","stopgain","KDM4B:NM_015015:exon15:c.C2173T:p.R725X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1E-3,"D",1,"A",".",".",".",".",".",".",".",8.78,35,0.995,0.696,"D",".",".",".",".",0.707,0,0.101,-0.058,0.012,0.958,0.505,11.966,"FamilyBased&CaseControl",".","ASD","WES",".",1]
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[2280,25363760,19,17352370,17352370,"T","G","DeNovo",".",".","19p13.11","splicing","PLVAP",83483,"NM_031310:exon6:c.1323-2A>C",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",2.543,19.74,0.818,0.784,"D",".",".",".",".",0.074,0,1.52,0.673,0.888,0.13,0.296,5.157,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[2295,25363760,19,35642695,35642695,"A","T","DeNovo",".",".","19q13.12","exonic","ETV2",2116,".","stopgain","ETV2:NM_001304549:exon3:c.A151T:p.K51X,ETV2:NM_014209:exon3:c.A151T:p.K51X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.016,"N",1,"A",".",".",".",".",".",".",".",11.368,37,0.996,0.854,"D",".",".",".",".",0.455,0,4.16,0.123,1.026,0.38,0.938,9.758,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[2307,25363760,19,41253611,41253611,"C","T","DeNovo",".",".","19q13.2","exonic","AXL",558,".","stopgain","AXL:NM_001278599:exon14:c.C1135T:p.Q379X,AXL:NM_001699:exon16:c.C1912T:p.Q638X,AXL:NM_021913:exon17:c.C1939T:p.Q647X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",13.49,42,0.998,0.977,"D",".",".",".",".",0.732,0,4.17,0.871,0.892,1,1,14.028,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[2385,25363760,21,14381499,14381499,"G","A","DeNovo",".",".","21q11.2","exonic","HSPA13",6782,".","stopgain","HSPA13:NM_006948:exon2:c.C70T:p.Q24X",".",".","rs773538239",{"v":3.32e-05,"d":"3.32E-05"},0,0,0,0,{"v":6.04e-05,"d":"6.04E-05"},0,0,".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",11.112,37,0.998,0.98,"D",".",".",".",".",0.66,0,5.7,0.917,0.948,1,1,19.835,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[2394,25363760,21,37505352,37505352,"C","T","DeNovo",".",".","21q22.13","exonic","DYRK1A",1859,".","stopgain","DYRK1A:NM_001347723:exon9:c.C1195T:p.R399X,DYRK1A:NM_130436:exon9:c.C1282T:p.R428X,DYRK1A:NM_130438:exon9:c.C1309T:p.R437X,DYRK1A:NM_001347721:exon10:c.C1282T:p.R428X,DYRK1A:NM_001347722:exon10:c.C1282T:p.R428X,DYRK1A:NM_001396:exon10:c.C1309T:p.R437X,DYRK1A:NM_101395:exon11:c.C1309T:p.R437X","Mental retardation, autosomal dominant 7, Autosomal dominant","ID=COSM1414045;OCCURENCE=1(large_intestine)","rs724159953",".",".",".",".",".",".",".",".",".","Pathogenic|Pathogenic|Pathogenic|Pathogenic|Pathogenic|Pathogenic|Pathogenic|Pathogenic","Absent_or_delayed_speech_development|Deeply_set_eye|Feeding_difficulties|Intellectual_disability|Microcephaly|Seizures|Mental_retardation\\x2c_autosomal_dominant_7|not_provided","RCV000149564.1|RCV000149564.1|RCV000149564.1|RCV000149564.1|RCV000149564.1|RCV000149564.1|RCV000193013.1|RCV000413642.1","MedGen|Human_Phenotype_Ontology:MedGen|Human_Phenotype_Ontology:MedGen|Human_Phenotype_Ontology:MedGen|Human_Phenotype_Ontology:MedGen|Human_Phenotype_Ontology:MedGen|MedGen:OMIM|MedGen","C3276611|HP:0000490:CN000458|HP:0011968:C0232466|HP:0001249:C3714756|HP:0000252:C0424688|HP:0001250:C1959629|C3279839:614104|CN221809",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",14.185,45,0.998,0.988,"D",".",".",".",".",0.707,0,5.83,0.871,0.935,0.989,0.971,20.115,"FamilyBased&CaseControl",".","ASD","WES",".",2]
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[2401,25363760,22,15690384,15690384,"A","AG","DeNovo",".",".","22q11.1","exonic","POTEH",23784,".","frameshift substitution","POTEH:NM_001136213:exon1:c.307delinsAG:p.C103Rfs*86",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased&CaseControl",".","ASD","WES",".",1]
[2403,25363760,22,17539103,17539103,"T","A","DeNovo",".",".","22q11.21","exonic","CECR2",27443,".","stopgain","CECR2:NM_001290046:exon13:c.T990A:p.Y330X,CECR2:NM_001290047:exon13:c.T1479A:p.Y493X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",9.07,35,0.99,0.845,"D",".",".",".",".",0.707,0,-5.36,-0.368,-0.308,0.993,0.993,18.787,"FamilyBased&CaseControl",".","ASD","WES",".",1]
[2437,25363760,22,41168868,41168868,"G","GT","DeNovo",".",".","22q13.2","splicing","EP300",2033,"NM_001429:exon25:c.4172+1G>GT",".",".","Colorectal cancer, somatic;Rubinstein-Taybi syndrome 2, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased&CaseControl",".","ASD","WES",".",1]
[2445,25363760,22,50698718,50698718,"G","A","DeNovo",".",".","22q13.33","exonic","SHANK3",85358,".","stopgain","SHANK3:NM_033517:exon12:c.G1485A:p.W495X","Phelan-McDermid syndrome, Isolated cases",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased&CaseControl",".","ASD","WES",".",1]
[3848,25363768,1,1287138,1287138,"C","A","DeNovo",".",".","1p36.33","exonic","SCNN1D",6339,".","stopgain","SCNN1D:NM_001130413:exon9:c.C1149A:p.Y383X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.909,"N",1,"A",".",".",".",".",".",".",".",8.115,35,0.994,0.183,"N",".",".",".",".",0.646,0,2.68,-0.041,0.816,0.418,0.064,9.152,"FamilyBased",".","ASD","WES",".","."]
[3880,25363768,1,12115730,12115730,"G","A","DeNovo",".",".","1p36.22","splicing","TNFRSF8",943,"NM_001281430:exon7:c.613+1G>A;NM_001243:exon8:c.946+1G>A",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",3.27,22.8,0.982,0.953,"D",".",".",".",".",0.257,0,3.73,0.576,0.821,0.015,0.365,11.227,"FamilyBased",".","ASD","WES",".","."]
[3887,25363768,1,15929268,15929268,"G","GA","DeNovo",".",".","1p36.13","exonic","SPEN",23013,".","frameshift substitution","SPEN:NM_015001:exon11:c.3028delinsGA:p.D1011Gfs*11",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WES",".","."]
[3904,25363768,1,20639952,20639952,"C","T","DeNovo",".",".","1p36.12","exonic","PINK1",65018,".","stopgain","PINK1:NM_032409:exon3:c.C736T:p.R246X","Parkinson disease 6, early onset, Autosomal recessive",".","rs74315357",{"v":3.17e-05,"d":"3.17E-05"},0,0,1E-4,0,{"v":1.88E-5,"d":"1.88E-05"},0,{"v":7.74e-05,"d":"7.74E-05"},".","Pathogenic","Parkinson_disease_6\\x2c_autosomal_recessive_early-onset","RCV000002508.3","MedGen:OMIM","C1853833:605909",".",".",".",".",".",".",0.004,"N",1,"A",".",".",".",".",".",".",".",13.121,41,0.998,0.752,"D",".",".",".",".",0.744,0,4.93,0.871,0.925,0.921,0.995,12.287,"FamilyBased",".","ASD","WES",".","."]
[3905,25363768,1,21257524,21257524,"C","T","DeNovo",".",".","1p36.12","splicing","ECE1",1889,"NM_001397:exon7:c.828+1G>A;NM_001113347:exon5:c.792+1G>A;NM_001113349:exon6:c.819+1G>A;NM_001113348:exon7:c.780+1G>A",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",5.955,27.7,0.995,0.996,"D",".",".",".",".",0.257,0,5.3,0.871,0.892,0.933,0.46,16.81,"FamilyBased",".","ASD","WES",".","."]
[3910,25363768,1,22910448,22910448,"C","T","DeNovo",".",".","1p36.12","exonic","EPHB2",2048,".","stopgain","EPHB2:NM_001309192:exon12:c.C2395T:p.Q799X,EPHB2:NM_001309193:exon14:c.C2569T:p.Q857X,EPHB2:NM_004442:exon14:c.C2572T:p.Q858X,EPHB2:NM_017449:exon14:c.C2569T:p.Q857X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",14.841,48,0.998,0.982,"D",".",".",".",".",0.707,0,4.64,0.871,0.85,0.999,0.999,16.64,"FamilyBased",".","ASD","WES",".","."]
[3931,25363768,1,27550358,27550358,"G","GT","DeNovo",".",".","1p36.11","exonic","AHDC1",27245,".","frameshift substitution","AHDC1:NM_001029882:exon6:c.1758delinsAC:p.R587Pfs*56","Xia-Gibbs syndrome, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WES",".","."]
[3944,25363768,1,32077257,32077257,"C","T","DeNovo",".",".","1p35.2","exonic","TMEM39B",55116,".","stopgain","TMEM39B:NM_001319677:exon5:c.C148T:p.R50X,TMEM39B:NM_018056:exon5:c.C529T:p.R177X",".","ID=COSM908239,COSM908238;OCCURENCE=1(endometrium)",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",12.258,39,0.997,0.901,"D",".",".",".",".",0.707,0,5.1,0.033,0.825,0.909,0.999,9.922,"FamilyBased",".","ASD","WES",".","."]
[3970,25363768,1,38918966,38918966,"C","T","DeNovo",".",".","1p34.3","splicing","RHBDL2",54933,"NM_001304746:exon2:c.486+1G>A;NM_017821:exon2:c.246+1G>A",".",".",".",".","rs150433226",0.0007,0.0004,0,0,0.0005,0.0012,0,0,0.000599042,".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",5.487,26.2,0.995,0.975,"D",".",".",".",".",0.054,0,5.64,0.871,0.852,0.034,0.121,18.462,"FamilyBased",".","ASD","WES",".","."]
[3974,25363768,1,40409787,40409787,"T","A","DeNovo",".",".","1p34.2","exonic","SMAP2",64744,".","stopgain","SMAP2:NM_001198978:exon4:c.T264A:p.Y88X,SMAP2:NM_001198979:exon4:c.T339A:p.Y113X,SMAP2:NM_001198980:exon4:c.T114A:p.Y38X,SMAP2:NM_022733:exon4:c.T354A:p.Y118X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",10.124,36,0.997,0.974,"D",".",".",".",".",0.706,0,1.96,0.991,0.08,1,1,8.149,"FamilyBased",".","ASD","WES",".","."]
[3977,25363768,1,41583045,41583045,"C","CG","DeNovo",".",".","1p34.2","exonic","HIVEP3",59269,".","frameshift substitution","HIVEP3:NM_001127714:exon3:c.1753delinsCG:p.M586Dfs*19,HIVEP3:NM_024503:exon4:c.1753delinsCG:p.M586Dfs*19",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WES",".","."]
[4032,25363768,1,61088233,61088233,"C","T","DeNovo",".",".","1p31.3","exonic","NFIA",4774,".","stopgain","NFIA:NM_001134673:exon2:c.C112T:p.R38X,NFIA:NM_001145511:exon2:c.C88T:p.R30X,NFIA:NM_005595:exon2:c.C112T:p.R38X,NFIA:NM_001145512:exon3:c.C247T:p.R83X",".","ID=COSM3667568,COSM3667569,COSM3667567;OCCURENCE=1(liver)",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",11.878,38,0.997,0.895,"D",".",".",".",".",0.707,0,5.86,0.871,0.935,1,1,14.398,"FamilyBased",".","ASD","WES",".","."]
[4042,25363768,1,67413265,67413265,"T","G","DeNovo",".",".","1p31.3","splicing","SERBP1",26135,"NM_015640:exon8:c.1108-2A>C;NM_001018068:exon8:c.1153-2A>C;NM_001018067:exon8:c.1171-2A>C;NM_001018069:exon8:c.1126-2A>C",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",4.126,23.8,0.993,0.992,"D",".",".",".",".",0.299,0,5.04,0.991,0.954,0.983,0.983,15.068,"FamilyBased",".","ASD","WES",".","."]
[4052,25363768,1,78628122,78628122,"T","A","DeNovo",".",".","1p31.1","exonic","IFI44L",10964,".","stopgain","IFI44L:NM_006820:exon2:c.T207A:p.Y69X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.285,"N",1,"A",".",".",".",".",".",".",".",5.699,26.8,0.99,0.133,"N",".",".",".",".",0.66,0,1.97,0.617,0.713,0.005,0.019,6.253,"FamilyBased",".","ASD","WES",".","."]
[4076,25363768,1,93584017,93584017,"C","A","DeNovo",".",".","1p22.1","splicing","BCAR3",8412,"NM_001308251:exon2:c.61+1G>T;NM_001261409:exon6:c.1033+1G>T;NM_001261408:exon8:c.1033+1G>T;NM_003567:exon6:c.1033+1G>T;NM_001261410:exon4:c.760+1G>T",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",5.305,25.8,0.995,0.989,"D",".",".",".",".",0.156,0,5.56,0.871,0.935,0.694,0.227,19.535,"FamilyBased",".","ASD","WES",".","."]
[4111,25363768,1,114738043,114738043,"G","A","DeNovo",".",".","1p13.2","exonic","CSDE1",7812,".","stopgain","CSDE1:NM_001242892:exon3:c.C229T:p.R77X,CSDE1:NM_001242893:exon3:c.C229T:p.R77X,CSDE1:NM_001007553:exon4:c.C229T:p.R77X,CSDE1:NM_007158:exon4:c.C229T:p.R77X,CSDE1:NM_001130523:exon5:c.C367T:p.R123X,CSDE1:NM_001242891:exon5:c.C367T:p.R123X",".","ID=COSM3700466,COSM3700465;OCCURENCE=1(liver)",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",10.166,36,0.997,0.92,"D",".",".",".",".",0.707,0,5.12,0.917,1.048,1,1,10.306,"FamilyBased",".","ASD","WES",".","."]
[4114,25363768,1,116374242,116374242,"G","A","DeNovo",".",".","1p13.1","splicing","ATP1A1",476,"NM_001160233:exon1:c.12+1G>A",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",4.386,24.1,0.982,0.473,"N",".",".",".",".",0.047,1,3.02,0.917,0.974,0.999,1,7.743,"FamilyBased",".","ASD","WES",".","."]
[4115,25363768,1,116600130,116600130,"G","A","DeNovo",".",".","1p13.1","exonic","IGSF3",3321,".","stopgain","IGSF3:NM_001007237:exon7:c.C1840T:p.R614X,IGSF3:NM_001542:exon7:c.C1900T:p.R634X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",12.661,39,0.999,0.909,"D",".",".",".",".",0.707,0,3.65,0.917,0.947,0.999,1,11.652,"FamilyBased",".","ASD","WES",".","."]
[4119,25363768,1,117623547,117623547,"C","T","DeNovo",".",".","1p12","exonic","FAM46C",54855,".","stopgain","FAM46C:NM_017709:exon2:c.C679T:p.Q227X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.003,"N",1,"D",".",".",".",".",".",".",".",11.826,38,0.997,0.911,"D",".",".",".",".",0.625,0,5.72,0.871,0.935,0.997,0.997,18.855,"FamilyBased",".","ASD","WES",".","."]
[4131,25363768,1,145845713,145845713,"C","CCA","DeNovo",".",".","1q21.1","exonic","NUDT17",200035,".","frameshift substitution","NUDT17:NM_001012758:exon1:c.73delinsCCA:p.G25Pfs*19",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WES",".","."]
[4135,25363768,1,150156958,150156958,"C","CGT","DeNovo",".",".","1q21.2","exonic","PLEKHO1",51177,".","frameshift substitution","PLEKHO1:NM_016274:exon4:c.366delinsCGT:p.W123Vfs*51",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WES",".","."]
[4145,25363768,1,150969009,150969009,"G","A","DeNovo",".",".","1q21.3","exonic","CERS2",29956,".","stopgain","CERS2:NM_022075:exon2:c.C82T:p.R28X,CERS2:NM_181746:exon2:c.C82T:p.R28X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1E-3,"D",1,"A",".",".",".",".",".",".",".",9.993,36,0.996,0.868,"D",".",".",".",".",0.707,0,3.64,-0.02,0.079,0.988,0.994,10.808,"FamilyBased",".","ASD","WES",".","."]
[4150,25363768,1,151405428,151405428,"T","TCGTCATCA","DeNovo",".",".","1q21.3","exonic","POGZ",23126,".","frameshift substitution","POGZ:NM_145796:exon17:c.3322delinsTGATGACGA:p.E1108*,POGZ:NM_207171:exon17:c.3448delinsTGATGACGA:p.E1150*,POGZ:NM_001194938:exon18:c.3421delinsTGATGACGA:p.E1141*,POGZ:NM_001194937:exon19:c.3580delinsTGATGACGA:p.E1194*,POGZ:NM_015100:exon19:c.3607delinsTGATGACGA:p.E1203*","White-Sutton syndrome, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WES",".","."]
[4152,25363768,1,151406013,151406013,"G","A","DeNovo",".",".","1q21.3","exonic","POGZ",23126,".","stopgain","POGZ:NM_145796:exon17:c.C2737T:p.R913X,POGZ:NM_207171:exon17:c.C2863T:p.R955X,POGZ:NM_001194938:exon18:c.C2836T:p.R946X,POGZ:NM_001194937:exon19:c.C2995T:p.R999X,POGZ:NM_015100:exon19:c.C3022T:p.R1008X","White-Sutton syndrome, Autosomal dominant","ID=COSM1333991,COSM1333990;OCCURENCE=1(large_intestine)",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1E-3,"D",1,"D",".",".",".",".",".",".",".",12.571,39,0.997,0.811,"D",".",".",".",".",0.672,0,4.83,-0.045,1.048,0.992,1,14.924,"FamilyBased",".","ASD","WES",".","."]
[4169,25363768,1,153665244,153665244,"G","A","DeNovo",".",".","1q21.3","exonic","ILF2",3608,".","stopgain","ILF2:NM_001267809:exon8:c.C439T:p.R147X,ILF2:NM_004515:exon8:c.C553T:p.R185X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",13.126,41,0.997,0.963,"D",".",".",".",".",0.719,0,5.61,0.917,0.025,0.998,0.998,17.133,"FamilyBased",".","ASD","WES",".","."]
[4173,25363768,1,154255201,154255201,"T","TC","DeNovo",".",".","1q21.3","exonic","UBAP2L",9898,".","frameshift substitution","UBAP2L:NM_001127320:exon17:c.1959delinsTC:p.L656Sfs*3,UBAP2L:NM_001287815:exon17:c.1938delinsTC:p.L649Sfs*3,UBAP2L:NM_001287816:exon17:c.1992delinsTC:p.L667Sfs*3,UBAP2L:NM_001330730:exon17:c.1992delinsTC:p.L667Sfs*3,UBAP2L:NM_014847:exon17:c.1959delinsTC:p.L656Sfs*3",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WES",".","."]
[4183,25363768,1,155370889,155370889,"C","A","DeNovo",".",".","1q22","exonic","ASH1L",55870,".","stopgain","ASH1L:NM_018489:exon11:c.G6427T:p.E2143X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",13.923,44,0.997,0.991,"D",".",".",".",".",0.707,0,5.25,0.871,0.935,0.997,0.999,18.447,"FamilyBased",".","ASD","WES",".","."]
[4205,25363768,1,158606698,158606698,"G","GT","DeNovo",".",".","1q23.1","exonic","OR10Z1",128368,".","frameshift substitution","OR10Z1:NM_001004478:exon1:c.260delinsGT:p.D89Gfs*23",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WES",".","."]
[4212,25363768,1,159808960,159808960,"G","A","DeNovo",".",".","1q23.2","splicing","FCRL6",343413,"NM_001284217:exon5:c.341-1G>A;NM_001004310:exon4:c.320-1G>A",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",3.677,23.3,0.992,0.942,"D",".",".",".",".",0.066,0,4.17,0.917,0.813,0.992,0.713,12.345,"FamilyBased",".","ASD","WES",".","."]
[4217,25363768,1,161047972,161047972,"G","A","DeNovo",".",".","1q23.3","exonic","ARHGAP30",257106,".","stopgain","ARHGAP30:NM_001287602:exon8:c.C2518T:p.R840X,ARHGAP30:NM_001287600:exon11:c.C2605T:p.R869X,ARHGAP30:NM_001025598:exon12:c.C3049T:p.R1017X,ARHGAP30:NM_181720:exon13:c.C2416T:p.R806X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",2E-3,"N",1,"D",".",".",".",".",".",".",".",12.664,39,0.997,0.709,"D",".",".",".",".",0.722,0,3.17,-0.045,0.953,0.906,1,8.203,"FamilyBased",".","ASD","WES",".","."]
[4227,25363768,1,169127268,169127268,"C","T","DeNovo",".",".","1q24.2","exonic","ATP1B1",481,".","stopgain","ATP1B1:NM_001677:exon4:c.C427T:p.R143X",".",".","rs80176946",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.587,"N",1,"A",".",".",".",".",".",".",".",8.857,35,0.994,0.33,"N",".",".",".",".",0.707,0,3.09,0.871,0.04,0.976,0.772,11.896,"FamilyBased",".","ASD","WES",".","."]
[4229,25363768,1,169612954,169612954,"C","T","DeNovo",".",".","1q24.2","exonic","SELP",6403,".","stopgain","SELP:NM_003005:exon5:c.G750A:p.W250X",".",".","rs752244886",{"v":8.29e-06,"d":"8.29E-06"},0,0,0,0,{"v":1.5E-5,"d":"1.50E-05"},0,0,".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",11.297,37,0.996,0.995,"D",".",".",".",".",0.615,0,5.81,0.871,0.935,0.809,0.109,17.572,"FamilyBased",".","ASD","WES",".","."]
[4287,25363768,1,202729044,202729044,"G","A","DeNovo",".",".","1q32.1","exonic","KDM5B",10765,".","stopgain","KDM5B:NM_001347591:exon26:c.C4492T:p.R1498X,KDM5B:NM_006618:exon27:c.C4627T:p.R1543X,KDM5B:NM_001314042:exon28:c.C4735T:p.R1579X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",0.715,"D",".",".",".",".",".",".",".",13.86,43,0.997,0.981,"D",".",".",".",".",0.732,0,5.66,0.917,1.048,1,1,16.032,"FamilyBased",".","ASD","WES",".","."]
[4288,25363768,1,202736338,202736338,"G","A","DeNovo",".",".","1q32.1","exonic","KDM5B",10765,".","stopgain","KDM5B:NM_001347591:exon20:c.C3004T:p.R1002X,KDM5B:NM_006618:exon21:c.C3139T:p.R1047X,KDM5B:NM_001314042:exon22:c.C3247T:p.R1083X",".","ID=COSM902377;OCCURENCE=1(endometrium)",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",14.317,45,0.998,0.983,"D",".",".",".",".",0.706,0,5.66,0.917,1.048,1,1,20.125,"FamilyBased",".","ASD","WES",".","."]
[4290,25363768,1,202742657,202742657,"T","TA","DeNovo",".",".","1q32.1","exonic","KDM5B",10765,".","frameshift substitution","KDM5B:NM_001347591:exon16:c.2337delinsTA:p.R780Kfs*17,KDM5B:NM_006618:exon17:c.2472delinsTA:p.R825Kfs*17,KDM5B:NM_001314042:exon18:c.2580delinsTA:p.R861Kfs*17",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WES",".","."]
[4291,25363768,1,202745916,202745916,"G","C","DeNovo",".",".","1q32.1","exonic","KDM5B",10765,".","stopgain","KDM5B:NM_001347591:exon15:c.C2130G:p.Y710X,KDM5B:NM_006618:exon16:c.C2265G:p.Y755X,KDM5B:NM_001314042:exon17:c.C2373G:p.Y791X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",8.039,35,0.981,0.94,"D",".",".",".",".",0.707,0,-2.25,-0.23,-1.467,0.996,0.968,12.391,"FamilyBased",".","ASD","WES",".","."]
[4352,25363768,1,227845524,227845524,"G","A","DeNovo",".",".","1q42.13","exonic","PRSS38",339501,".","stopgain","PRSS38:NM_183062:exon4:c.G638A:p.W213X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.862,"N",1,"A",".",".",".",".",".",".",".",6.55,31,0.903,0.157,"N",".",".",".",".",0.487,0,1.56,-0.688,-0.314,2E-3,0,4.212,"FamilyBased",".","ASD","WES",".","."]
[4359,25363768,1,228409234,228409234,"T","TG","DeNovo",".",".","1q42.13","exonic","TRIM17",51127,".","frameshift substitution","TRIM17:NM_001024940:exon6:c.821delinsCA:p.T275Nfs*14,TRIM17:NM_001134855:exon6:c.821delinsCA:p.T275Nfs*14,TRIM17:NM_016102:exon6:c.821delinsCA:p.T275Nfs*14",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WES",".","."]
[4383,25363768,1,244388989,244388989,"C","T","DeNovo",".",".","1q44","exonic","C1orf100",200159,".","stopgain","C1orf100:NM_001012970:exon5:c.C364T:p.R122X,C1orf100:NM_001276348:exon5:c.C268T:p.R90X",".","ID=COSM906666;OCCURENCE=1(endometrium),1(skin)","rs760285735",{"v":1.65e-05,"d":"1.65E-05"},0,0,0,0,{"v":1.5E-5,"d":"1.50E-05"},0,{"v":6.06e-05,"d":"6.06E-05"},".",".",".",".",".",".",".",".",".",".",".",".",0.587,"N",0.995,"D",".",".",".",".",".",".",".",9.201,35,0.974,0.019,"N",".",".",".",".",0.554,0,-3.04,-0.281,0.115,0.301,0.853,6.153,"FamilyBased",".","ASD","WES",".","."]
[4396,25363768,1,248592974,248592974,"G","T","DeNovo",".",".","1q44","exonic","OR2T10",127069,".","stopgain","OR2T10:NM_001004693:exon1:c.C795A:p.Y265X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.999,"D",".",".",".",".",".",".",".",9.985,36,0.988,0.128,"N",".",".",".",".",0.487,0,1.35,0.562,0.446,0.027,0.267,2.584,"FamilyBased",".","ASD","WES",".","."]
[4403,25363768,2,6849894,6849894,"G","A","DeNovo",".",".","2p25.2","exonic","CMPK2",129607,".","stopgain","CMPK2:NM_207315:exon5:c.C1306T:p.Q436X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.03,"N",1,"D",".",".",".",".",".",".",".",10.567,36,0.983,0.843,"D",".",".",".",".",0.706,0,3.77,0.917,0.05,0.195,0.513,9.265,"FamilyBased",".","ASD","WES",".","."]
[4410,25363768,2,16562029,16562029,"T","TA","DeNovo",".",".","2p24.2","exonic","FAM49A",81553,".","frameshift substitution","FAM49A:NM_030797:exon6:c.411delinsTA:p.T138Nfs*6",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WES",".","."]
[4424,25363768,2,25282488,25282488,"A","AT","DeNovo",".",".","2p23.3","exonic","DNMT3A",1788,".","frameshift substitution","DNMT3A:NM_001320892:exon4:c.401delinsAT:p.G135Wfs*17,DNMT3A:NM_022552:exon4:c.401delinsAT:p.G135Wfs*81,DNMT3A:NM_175629:exon4:c.401delinsAT:p.G135Wfs*81,DNMT3A:NM_175630:exon4:c.401delinsAT:p.G135Wfs*17","Tatton-Brown-Rahman syndrome, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WES",".","."]
[4453,25363768,2,31943301,31943301,"C","T","DeNovo",".",".","2p22.3","splicing","MEMO1",7795,"NM_015955:exon2:c.143+1G>A;NM_001301833:exon3:c.143+1G>A;NM_001137602:exon2:c.143+1G>A;NM_001301852:exon2:UTR5",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",4.976,25.1,0.994,0.98,"D",".",".",".",".",0.099,0,4.1,0.871,0,0.994,0.888,15.434,"FamilyBased",".","ASD","WES",".","."]
[4456,25363768,2,32114708,32114708,"C","CA","DeNovo",".",".","2p22.3","exonic","SPAST",6683,".","frameshift substitution","SPAST:NM_199436:exon4:c.657delinsCA:p.V220Sfs*14,SPAST:NM_014946:exon5:c.753delinsCA:p.V252Sfs*14","Spastic paraplegia 4, autosomal dominant, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WES",".","."]
[4471,25363768,2,37136999,37136999,"G","A","DeNovo",".",".","2p22.2","exonic","EIF2AK2",5610,".","stopgain","EIF2AK2:NM_001135652:exon7:c.C706T:p.Q236X,EIF2AK2:NM_001135651:exon9:c.C706T:p.Q236X,EIF2AK2:NM_002759:exon9:c.C706T:p.Q236X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"N",1,"A",".",".",".",".",".",".",".",4.696,24.6,0.919,0.016,"N",".",".",".",".",0.707,0,-5.83,-1.261,-1.165,0.004,0,0.161,"FamilyBased",".","ASD","WES",".","."]
[4472,25363768,2,38004135,38004135,"G","C","DeNovo",".",".","2p22.2","splicing","RMDN2",151393,"NM_001170791:exon10:c.1099-1G>C;NM_001322212:exon10:c.1099-1G>C;NM_001322211:exon10:c.1099-1G>C;NM_001170792:exon10:c.1099-1G>C;NM_001170793:exon9:c.664-1G>C;NM_144713:exon10:c.1633-1G>C",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",4.559,24.4,0.995,0.943,"D",".",".",".",".",0.165,0,5.09,0.917,1.044,0.827,0.992,14.347,"FamilyBased",".","ASD","WES",".","."]
[4475,25363768,2,38823163,38823163,"G","A","DeNovo",".",".","2p22.1","exonic","DHX57",90957,".","stopgain","DHX57:NM_001329963:exon17:c.C2815T:p.R939X,DHX57:NM_198963:exon17:c.C3121T:p.R1041X",".","ID=COSM269012;OCCURENCE=1(large_intestine)","rs143143351",{"v":1.65e-05,"d":"1.65E-05"},0,0,0,0,{"v":3e-05,"d":"3.00E-05"},0,0,".",".",".",".",".",".",".",".",".",".",".",".",0.227,"N",1,"A",".",".",".",".",".",".",".",15.075,49,0.998,0.985,"D",".",".",".",".",0.707,0,5.75,0.917,1.048,0.992,1,19.956,"FamilyBased",".","ASD","WES",".","."]
[4495,25363768,2,50497467,50497467,"A","T","DeNovo",".",".","2p16.3","exonic","NRXN1",9378,".","stopgain","NRXN1:NM_001330087:exon9:c.T2634A:p.Y878X,NRXN1:NM_001330096:exon9:c.T2634A:p.Y878X,NRXN1:NM_001330083:exon10:c.T2679A:p.Y893X,NRXN1:NM_001330084:exon10:c.T2679A:p.Y893X,NRXN1:NM_001330088:exon10:c.T2664A:p.Y888X,NRXN1:NM_001330095:exon12:c.T2694A:p.Y898X,NRXN1:NM_001330077:exon13:c.T2721A:p.Y907X,NRXN1:NM_001330082:exon13:c.T2721A:p.Y907X,NRXN1:NM_001330085:exon13:c.T2718A:p.Y906X,NRXN1:NM_001330094:exon13:c.T2733A:p.Y911X,NRXN1:NM_001330078:exon14:c.T2745A:p.Y915X,NRXN1:NM_001330086:exon14:c.T2745A:p.Y915X,NRXN1:NM_001330093:exon14:c.T2742A:p.Y914X,NRXN1:NM_004801:exon14:c.T2745A:p.Y915X,NRXN1:NM_001135659:exon15:c.T2865A:p.Y955X","Pitt-Hopkins-like syndrome 2, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",13.863,43,0.997,0.917,"D",".",".",".",".",0.638,0,4.44,1.062,1.199,1,1,11.496,"FamilyBased",".","ASD","WES",".","."]
[4502,25363768,2,54629896,54629896,"G","T","DeNovo",".",".","2p16.2","exonic","SPTBN1",6711,".","stopgain","SPTBN1:NM_178313:exon14:c.G2635T:p.E879X,SPTBN1:NM_003128:exon15:c.G2674T:p.E892X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",13.825,43,0.997,0.978,"D",".",".",".",".",0.722,0,5.78,0.917,1.048,0.996,0.997,20.012,"FamilyBased",".","ASD","WES",".","."]
[4508,25363768,2,60462119,60462119,"A","AG","DeNovo",".",".","2p16.1","exonic","BCL11A",53335,".","frameshift substitution","BCL11A:NM_018014:exon4:c.793delinsCT:p.F266Vfs*2,BCL11A:NM_022893:exon4:c.793delinsCT:p.F266Vfs*2","Dias-Logan syndrome, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WES",".","."]
[4559,25363768,2,96702316,96702316,"C","T","DeNovo",".",".","2q11.2","exonic","FER1L5",90342,".","stopgain","FER1L5:NM_001293083:exon47:c.C5170T:p.R1724X",".",".","rs769361160",{"v":2.23E-5,"d":"2.23E-05"},0,0,0,0,0,0,0.0002,".",".",".",".",".",".",".",".",".",".",".",".",0,"U",".",".",".",".",".",".",".",".",".",2.231,17.71,0.89,0.99,"D",".",".",".",".",0.089,0,5.19,0.871,0.935,0.935,0.988,17.504,"FamilyBased",".","ASD","WES",".","."]
[4587,25363768,2,120984534,120984534,"A","T","DeNovo",".",".","2q14.2","exonic","GLI2",2736,".","stopgain","GLI2:NM_005270:exon11:c.A1747T:p.K583X","Culler-Jones syndrome, Autosomal dominant;Holoprosencephaly 9, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",13.65,42,0.996,0.987,"D",".",".",".",".",0.707,0,4.48,1.062,1.199,0.998,1,13.949,"FamilyBased",".","ASD","WES",".","."]
[4593,25363768,2,127565386,127565386,"G","A","DeNovo",".",".","2q14.3","splicing","MYO7B",4648,"NM_001080527:exon4:c.285+1G>A",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",5.57,26.4,0.996,0.99,"D",".",".",".",".",0.162,0,5.23,0.917,1.048,0.996,0.965,19.173,"FamilyBased",".","ASD","WES",".","."]
[4603,25363768,2,131053016,131053016,"C","G","DeNovo",".",".","2q21.1","splicing","FAM168B",130074,"NM_001321747:exon6:c.476-1G>C;NM_001321746:exon6:c.476-1G>C;NM_001321748:exon6:c.476-1G>C;NM_001321745:exon6:c.476-1G>C;NM_001321744:exon7:c.476-1G>C;NM_001321743:exon8:c.476-1G>C;NM_001009993:exon6:c.476-1G>C",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",5.67,26.7,0.995,0.998,"D",".",".",".",".",0.257,0,5.91,0.871,0.935,1,1,17.773,"FamilyBased",".","ASD","WES",".","."]
[4630,25363768,2,159325740,159325740,"G","GT","DeNovo",".",".","2q24.2","exonic","BAZ2B",29994,".","frameshift substitution","BAZ2B:NM_001289975:exon34:c.6014delinsAC:p.T2006Hfs*4,BAZ2B:NM_001329857:exon35:c.6065delinsAC:p.T2023Hfs*4,BAZ2B:NM_001329858:exon35:c.6047delinsAC:p.T2017Hfs*4,BAZ2B:NM_013450:exon35:c.6122delinsAC:p.T2042Hfs*4",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WES",".","."]
[4638,25363768,2,161418971,161418971,"A","AC","DeNovo",".",".","2q24.2","exonic","TBR1",10716,".","frameshift substitution","TBR1:NM_006593:exon4:c.1049delinsAC:p.T350Nfs*2",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WES",".","."]
[4640,25363768,2,162008566,162008566,"G","T","DeNovo",".",".","2q24.2","exonic","DPP4",1803,".","stopgain","DPP4:NM_001935:exon22:c.C1983A:p.Y661X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",12.649,39,0.996,0.903,"D",".",".",".",".",0.615,0,0.286,0.069,1.048,0.998,1,9.496,"FamilyBased",".","ASD","WES",".","."]
[4651,25363768,2,165344869,165344869,"C","A","DeNovo",".",".","2q24.3","exonic","SCN2A",6326,".","stopgain","SCN2A:NM_001040143:exon15:c.C2877A:p.C959X,SCN2A:NM_001040142:exon16:c.C2877A:p.C959X,SCN2A:NM_021007:exon16:c.C2877A:p.C959X","Epileptic encephalopathy, early infantile, 11, Autosomal dominant;Seizures, benign familial infantile, 3, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",11.76,38,0.993,0.925,"D",".",".",".",".",0.554,0,4.53,-0.048,0.077,0.999,0.999,14.591,"FamilyBased",".","ASD","WES",".","."]
[4652,25363768,2,165354309,165354309,"G","T","DeNovo",".",".","2q24.3","exonic","SCN2A",6326,".","stopgain","SCN2A:NM_001040143:exon16:c.G3037T:p.G1013X,SCN2A:NM_001040142:exon17:c.G3037T:p.G1013X,SCN2A:NM_021007:exon17:c.G3037T:p.G1013X","Epileptic encephalopathy, early infantile, 11, Autosomal dominant;Seizures, benign familial infantile, 3, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",12.409,39,0.991,0.994,"D",".",".",".",".",0.487,0,5.5,0.917,0.998,0.994,0.998,19.384,"FamilyBased",".","ASD","WES",".","."]
[4669,25363768,2,169185798,169185798,"G","A","DeNovo",".",".","2q31.1","exonic","LRP2",4036,".","stopgain","LRP2:NM_004525:exon50:c.C9550T:p.R3184X","Donnai-Barrow syndrome, Autosomal recessive","ID=COSM1305828;OCCURENCE=1(urinary_tract)",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",15.816,53,0.997,0.964,"D",".",".",".",".",0.554,0,5.97,0.917,1.048,1,1,20.439,"FamilyBased",".","ASD","WES",".","."]
[4685,25363768,2,176189860,176189860,"A","AT","DeNovo",".",".","2q31.1","exonic","HOXD1",3231,".","frameshift substitution","HOXD1:NM_024501:exon2:c.705delinsAT:p.N235Kfs*18",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WES",".","."]
[4690,25363768,2,178560364,178560364,"G","A","DeNovo",".",".","2q31.2","exonic","TTN",7273,".","stopgain","TTN:NM_003319:exon154:c.C58573T:p.R19525X,TTN:NM_133432:exon155:c.C58948T:p.R19650X,TTN:NM_133437:exon155:c.C59149T:p.R19717X,TTN:NM_133378:exon275:c.C78064T:p.R26022X,TTN:NM_001256850:exon276:c.C80845T:p.R26949X,TTN:NM_001267550:exon326:c.C85768T:p.R28590X","Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"A",".",".",".",".",".",".",".",28.408,65,0.969,0.949,"D",".",".",".",".",0.554,0,2.95,0.917,0.1,0.983,0.997,14.811,"FamilyBased",".","ASD","WES",".","."]
[4706,25363768,2,182926842,182926842,"C","A","DeNovo",".",".","2q32.1","exonic","NCKAP1",10787,".","stopgain","NCKAP1:NM_013436:exon30:c.G3244T:p.E1082X,NCKAP1:NM_205842:exon31:c.G3262T:p.E1088X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",".",".",".",".",".",".",".",14.773,47,0.997,0.997,"D",".",".",".",".",0.732,0,5.36,0.871,0.807,1,0.998,19.063,"FamilyBased",".","ASD","WES",".","."]
[4708,25363768,2,183002134,183002134,"C","CCA","DeNovo",".",".","2q32.1","exonic","NCKAP1",10787,".","frameshift substitution","NCKAP1:NM_013436:exon5:c.505delinsTGG:p.G169Wfs*14,NCKAP1:NM_205842:exon6:c.523delinsTGG:p.G175Wfs*14",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WES",".","."]
[4722,25363768,2,191846611,191846611,"A","AG","DeNovo",".",".","2q32.3","exonic","CAVIN2",8436,".","frameshift substitution","CAVIN2:NM_004657:exon1:c.315delinsCT:p.S106Ffs*29",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WES",".","."]
[4730,25363768,2,199933186,199933186,"G","A","DeNovo",".",".","2q33.1","exonic","TYW5",129450,".","stopgain","TYW5:NM_001039693:exon8:c.C829T:p.Q277X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",".",".",".",".",".",".",".",13.251,41,0.996,0.995,"D",".",".",".",".",0.732,0,5.87,0.917,1.048,0.934,0.997,20.583,"FamilyBased",".","ASD","WES",".","."]
[4737,25363768,2,205615510,205615510,"C","G","DeNovo",".",".","2q33.3","exonic","PARD3B",117583,".","stopgain","PARD3B:NM_057177:exon22:c.C3108G:p.Y1036X,PARD3B:NM_152526:exon22:c.C3129G:p.Y1043X,PARD3B:NM_205863:exon22:c.C3012G:p.Y1004X,PARD3B:NM_001302769:exon23:c.C3315G:p.Y1105X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",2E-3,"N",1,"D",".",".",".",".",".",".",".",13.705,43,0.996,0.887,"D",".",".",".",".",0.624,0,5.19,0.871,0.935,0.964,0.973,10.935,"FamilyBased",".","ASD","WES",".","."]
[4749,25363768,2,209881047,209881047,"C","T","DeNovo",".",".","2q34","exonic","UNC80",285175,".","stopgain","UNC80:NM_032504:exon25:c.C4069T:p.R1357X,UNC80:NM_182587:exon25:c.C4054T:p.R1352X","Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",12.786,40,0.998,0.867,"D",".",".",".",".",0.554,0,1.38,-0.662,0.02,0.983,0.998,15.624,"FamilyBased",".","ASD","WES",".","."]
[4761,25363768,2,215433420,215433420,"G","A","DeNovo",".",".","2q35","exonic","FN1",2335,".","stopgain","FN1:NM_001306129:exon3:c.C319T:p.R107X,FN1:NM_001306130:exon3:c.C319T:p.R107X,FN1:NM_001306131:exon3:c.C319T:p.R107X,FN1:NM_001306132:exon3:c.C319T:p.R107X,FN1:NM_002026:exon3:c.C319T:p.R107X,FN1:NM_054034:exon3:c.C319T:p.R107X,FN1:NM_212474:exon3:c.C319T:p.R107X,FN1:NM_212476:exon3:c.C319T:p.R107X,FN1:NM_212478:exon3:c.C319T:p.R107X,FN1:NM_212482:exon3:c.C319T:p.R107X","Glomerulopathy with fibronectin deposits 2, Autosomal dominant;Plasma fibronectin deficiency, Autosomal dominant",".","rs772706420",{"v":8.25e-06,"d":"8.25E-06"},0,0,0,0,{"v":1.5E-5,"d":"1.50E-05"},0,0,".",".",".",".",".",".",".",".",".",".",".",".",1E-3,"D",1,"A",".",".",".",".",".",".",".",11.03,37,0.998,0.902,"D",".",".",".",".",0.626,0,3.06,-0.683,0.079,0.941,0.996,15.07,"FamilyBased",".","ASD","WES",".","."]
[4768,25363768,2,218636301,218636301,"C","CCATG","DeNovo",".",".","2q35","exonic","PLCD4",84812,".","frameshift substitution","PLCD4:NM_032726:exon15:c.2091delinsCCATG:p.M698Hfs*11",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WES",".","."]
[4784,25363768,2,224511501,224511501,"C","A","DeNovo",".",".","2q36.2","exonic","CUL3",8452,".","stopgain","CUL3:NM_001257197:exon5:c.G538T:p.E180X,CUL3:NM_001257198:exon6:c.G754T:p.E252X,CUL3:NM_003590:exon6:c.G736T:p.E246X","Pseudohypoaldosteronism, type IIE, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",11.865,38,0.998,0.984,"D",".",".",".",".",0.732,0,5.64,0.871,0.892,1,1,20.063,"FamilyBased",".","ASD","WES",".","."]
[4793,25363768,2,229836980,229836980,"G","A","DeNovo",".",".","2q36.3","exonic","TRIP12",9320,".","stopgain","TRIP12:NM_001284216:exon3:c.C103T:p.R35X,TRIP12:NM_001284215:exon5:c.C1012T:p.R338X,TRIP12:NM_001348316:exon5:c.C1012T:p.R338X,TRIP12:NM_001348317:exon5:c.C1012T:p.R338X,TRIP12:NM_001348318:exon5:c.C1012T:p.R338X,TRIP12:NM_001348331:exon5:c.C1012T:p.R338X,TRIP12:NM_004238:exon5:c.C1012T:p.R338X,TRIP12:NM_001284214:exon6:c.C1138T:p.R380X,TRIP12:NM_001348315:exon6:c.C1138T:p.R380X,TRIP12:NM_001348319:exon6:c.C1138T:p.R380X,TRIP12:NM_001348320:exon6:c.C1138T:p.R380X,TRIP12:NM_001348321:exon6:c.C1138T:p.R380X,TRIP12:NM_001348323:exon6:c.C1138T:p.R380X,TRIP12:NM_001348324:exon6:c.C1138T:p.R380X,TRIP12:NM_001348326:exon6:c.C1138T:p.R380X,TRIP12:NM_001348327:exon6:c.C1138T:p.R380X,TRIP12:NM_001348328:exon6:c.C1138T:p.R380X,TRIP12:NM_001348329:exon6:c.C1138T:p.R380X,TRIP12:NM_001348330:exon6:c.C1138T:p.R380X,TRIP12:NM_001348333:exon6:c.C1138T:p.R380X,TRIP12:NM_001348335:exon6:c.C1138T:p.R380X,TRIP12:NM_001348336:exon6:c.C1138T:p.R380X,TRIP12:NM_001348322:exon7:c.C1138T:p.R380X,TRIP12:NM_001348325:exon7:c.C1138T:p.R380X,TRIP12:NM_001348332:exon7:c.C1051T:p.R351X,TRIP12:NM_001348334:exon7:c.C1051T:p.R351X",".","ID=COSM1017548;OCCURENCE=1(endometrium)",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",12.523,39,0.998,0.996,"D",".",".",".",".",0.706,0,5.75,0.917,1.048,1,1,20.305,"FamilyBased",".","ASD","WES",".","."]
[4804,25363768,2,232811272,232811272,"C","T","DeNovo",".",".","2q37.1","exonic","GIGYF2",26058,".","stopgain","GIGYF2:NM_001103148:exon16:c.C1909T:p.Q637X,GIGYF2:NM_001103146:exon17:c.C1927T:p.Q643X,GIGYF2:NM_001103147:exon19:c.C1990T:p.Q664X,GIGYF2:NM_015575:exon19:c.C1927T:p.Q643X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",9.612,36,0.991,0.974,"D",".",".",".",".",0.707,0,5.01,0.871,0.935,1,0.998,15.445,"FamilyBased",".","ASD","WES",".","."]
[4809,25363768,2,233767873,233767873,"C","T","DeNovo",".",".","2q37.1","exonic","UGT1A1;UGT1A10;UGT1A3;UGT1A4;UGT1A5;UGT1A6;UGT1A7;UGT1A8;UGT1A9","54658;54575;54659;54657;54579;54578;54577;54576;54600",".","stopgain","UGT1A1:NM_000463:exon3:c.C1021T:p.R341X,UGT1A6:NM_001072:exon3:c.C1018T:p.R340X,UGT1A4:NM_007120:exon3:c.C1024T:p.R342X,UGT1A10:NM_019075:exon3:c.C1012T:p.R338X,UGT1A8:NM_019076:exon3:c.C1012T:p.R338X,UGT1A7:NM_019077:exon3:c.C1012T:p.R338X,UGT1A5:NM_019078:exon3:c.C1024T:p.R342X,UGT1A3:NM_019093:exon3:c.C1024T:p.R342X,UGT1A9:NM_021027:exon3:c.C1012T:p.R338X,UGT1A6:NM_205862:exon4:c.C217T:p.R73X",".",".","rs72551349",{"v":2.47e-05,"d":"2.47E-05"},0,0,0,0,{"v":1.5E-5,"d":"1.50E-05"},0,1E-4,".","Pathogenic|other","Crigler_Najjar_syndrome\\x2c_type_1|Gilbert's_syndrome","RCV000013056.24|RCV000013057.25","MedGen:Orphanet|MedGen:OMIM:SNOMED_CT","C0010324:ORPHA205|C0017551:143500:27503000",".",".",".",".",".",".",0.837,"N",1,"A",".",".",".",".",".",".",".",10.123,36,0.997,0.086,"N",".",".",".",".",0.497,0,4.09,-0.022,-0.018,0.688,0.116,8.993,"FamilyBased",".","ASD","WES",".","."]
[4817,25363768,2,237708614,237708614,"G","GA","DeNovo",".",".","2q37.3","exonic","LRRFIP1",9208,".","frameshift substitution","LRRFIP1:NM_001137550:exon2:c.167delinsGA:p.E56Gfs*23,LRRFIP1:NM_001137551:exon2:c.137delinsGA:p.E46Gfs*17,LRRFIP1:NM_001137552:exon2:c.137delinsGA:p.E46Gfs*10,LRRFIP1:NM_001137553:exon2:c.137delinsGA:p.E46Gfs*17,LRRFIP1:NM_004735:exon2:c.137delinsGA:p.E46Gfs*10",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WES",".","."]
[4821,25363768,2,238252935,238252935,"G","A","DeNovo",".",".","2q37.3","exonic","PER2",8864,".","stopgain","PER2:NM_022817:exon19:c.C3088T:p.Q1030X","Advanced sleep phase syndrome, familial, 1, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.034,"U",1,"A",".",".",".",".",".",".",".",8.648,35,0.989,0.064,"N",".",".",".",".",0.461,0,-0.707,0.63,0.953,0.233,0.5,8.162,"FamilyBased",".","ASD","WES",".","."]
[4874,25363768,3,20119597,20119597,"G","A","DeNovo",".",".","3p24.3","splicing","KAT2B",8850,"NM_003884:exon8:c.1151-1G>A",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",4.786,24.7,0.995,0.995,"D",".",".",".",".",0.156,0,5.74,0.917,1.035,0.568,0.875,19.926,"FamilyBased",".","ASD","WES",".","."]
[4887,25363768,3,36991518,36991518,"G","T","DeNovo",".",".","3p22.2","exonic","EPM2AIP1",9852,".","stopgain","EPM2AIP1:NM_014805:exon1:c.C1560A:p.Y520X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",11.948,38,0.993,0.816,"D",".",".",".",".",0.543,0,4.71,0.866,1.048,0.379,1,15.175,"FamilyBased",".","ASD","WES",".","."]
[4908,25363768,3,41233855,41233855,"G","A","DeNovo",".",".","3p22.1","exonic","CTNNB1",1499,".","stopgain","CTNNB1:NM_001098209:exon9:c.G1512A:p.W504X,CTNNB1:NM_001098210:exon9:c.G1512A:p.W504X,CTNNB1:NM_001904:exon9:c.G1512A:p.W504X,CTNNB1:NM_001330729:exon10:c.G1491A:p.W497X","Colorectal cancer, somatic;Hepatocellular carcinoma, somatic;Medulloblastoma, somatic;Mental retardation, autosomal dominant 19, Autosomal dominant;Ovarian cancer, somatic;Pilomatricoma, somatic",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",13.961,44,0.995,0.995,"D",".",".",".",".",0.672,0,5.56,0.897,1.048,1,1,19.89,"FamilyBased",".","ASD","WES",".","."]
[4966,25363768,3,50218624,50218624,"C","G","DeNovo",".",".","3p21.31","exonic","SLC38A3",10991,".","stopgain","SLC38A3:NM_006841:exon13:c.C1068G:p.Y356X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1.591,13.8,0.803,0.977,"D",".",".",".",".",0.162,0,5.11,0.871,0.852,1,1,16.05,"FamilyBased",".","ASD","WES",".","."]
[4991,25363768,3,54887957,54887957,"A","G","DeNovo",".",".","3p14.3","splicing","CACNA2D3",55799,"NM_018398:exon24:c.2057-2A>G",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",4.28,24,0.995,0.99,"D",".",".",".",".",0.054,0,5.61,1.062,1.199,0.99,0.982,14.412,"FamilyBased",".","ASD","WES",".","."]
[5006,25363768,3,64561733,64561733,"G","A","DeNovo",".",".","3p14.1","exonic","ADAMTS9",56999,".","stopgain","ADAMTS9:NM_001318781:exon29:c.C4459T:p.R1487X,ADAMTS9:NM_182920:exon30:c.C4543T:p.R1515X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.186,"N",1,"A",".",".",".",".",".",".",".",14.921,48,0.997,0.811,"D",".",".",".",".",0.651,0,4.78,0.917,0.998,0.993,0.965,13.35,"FamilyBased",".","ASD","WES",".","."]
[5011,25363768,3,67528194,67528194,"G","A","DeNovo",".",".","3p14.1","exonic","SUCLG2",8801,".","stopgain","SUCLG2:NM_001177599:exon4:c.C355T:p.Q119X,SUCLG2:NM_003848:exon4:c.C355T:p.Q119X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",12.43,39,0.998,0.921,"D",".",".",".",".",0.651,0,5.95,0.917,1.045,0.999,1,20.392,"FamilyBased",".","ASD","WES",".","."]
[5014,25363768,3,70976964,70976964,"G","A","DeNovo",".",".","3p13","exonic","FOXP1",27086,".","stopgain","FOXP1:NM_001244813:exon11:c.C1207T:p.R403X,FOXP1:NM_001349344:exon11:c.C1204T:p.R402X,FOXP1:NM_001244812:exon12:c.C1279T:p.R427X,FOXP1:NM_001244815:exon12:c.C1513T:p.R505X,FOXP1:NM_001349337:exon12:c.C1510T:p.R504X,FOXP1:NM_001349342:exon12:c.C1207T:p.R403X,FOXP1:NM_001349343:exon12:c.C1204T:p.R402X,FOXP1:NM_001244814:exon13:c.C1507T:p.R503X,FOXP1:NM_001244816:exon16:c.C1507T:p.R503X,FOXP1:NM_001349340:exon16:c.C1507T:p.R503X,FOXP1:NM_001244808:exon17:c.C1504T:p.R502X,FOXP1:NM_001244810:exon17:c.C1507T:p.R503X,FOXP1:NM_001349338:exon17:c.C1507T:p.R503X,FOXP1:NM_001349339:exon17:c.C1507T:p.R503X,FOXP1:NM_001349341:exon17:c.C1504T:p.R502X,FOXP1:NM_032682:exon17:c.C1507T:p.R503X","Mental retardation with language impairment and with or without autistic features, Autosomal dominant",".","rs797045584",".",".",".",".",".",".",".",".",".","Pathogenic","Mental_retardation_with_language_impairment_and_with_or_without_autistic_features","RCV000195136.1","MedGen:OMIM","C3150923:613670",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",13.649,42,0.998,0.963,"D",".",".",".",".",0.732,0,5.14,0.917,1.048,0.998,0.995,16.074,"FamilyBased",".","ASD","WES",".","."]
[5015,25363768,3,71001020,71001020,"C","CT","DeNovo",".",".","3p13","exonic","FOXP1",27086,".","frameshift substitution","FOXP1:NM_001244813:exon7:c.714delinsAG:p.A239Gfs*4,FOXP1:NM_001349344:exon7:c.711delinsAG:p.A238Gfs*4,FOXP1:NM_001244812:exon8:c.786delinsAG:p.A263Gfs*4,FOXP1:NM_001244815:exon8:c.1020delinsAG:p.A341Gfs*4,FOXP1:NM_001349337:exon8:c.1017delinsAG:p.A340Gfs*4,FOXP1:NM_001349342:exon8:c.714delinsAG:p.A239Gfs*4,FOXP1:NM_001349343:exon8:c.711delinsAG:p.A238Gfs*4,FOXP1:NM_001244814:exon9:c.1014delinsAG:p.A339Gfs*4,FOXP1:NM_001244816:exon12:c.1014delinsAG:p.A339Gfs*4,FOXP1:NM_001349340:exon12:c.1014delinsAG:p.A339Gfs*4,FOXP1:NM_001244808:exon13:c.1014delinsAG:p.A339Gfs*4,FOXP1:NM_001244810:exon13:c.1014delinsAG:p.A339Gfs*4,FOXP1:NM_001349338:exon13:c.1014delinsAG:p.A339Gfs*4,FOXP1:NM_001349339:exon13:c.1014delinsAG:p.A339Gfs*4,FOXP1:NM_001349341:exon13:c.1011delinsAG:p.A338Gfs*4,FOXP1:NM_032682:exon13:c.1014delinsAG:p.A339Gfs*4","Mental retardation with language impairment and with or without autistic features, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WES",".","."]
[5025,25363768,3,100296276,100296276,"G","C","DeNovo",".",".","3q12.1","splicing","TBC1D23",55773,"NM_001199198:exon8:c.876+1G>C;NM_018309:exon8:c.876+1G>C;NM_001199198:exon8:c.876+1G>C;NM_018309:exon8:c.876+1G>C",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",4.845,24.8,0.996,0.993,"D",".",".",".",".",0.164,0,5.39,0.917,0.912,0.962,0.978,19.151,"FamilyBased",".","ASD","WES",".","."]
[5027,25363768,3,100365566,100365566,"A","G","DeNovo",".",".","3q12.2","exonic","TOMM70",9868,".","stoploss","TOMM70:NM_014820:exon12:c.T1825C:p.X609Q",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"N",".",".",".",".",".",".",".",1.314,12.34,0.854,0.945,"D",".",".",".",".",0.295,0,5.82,1.003,1.199,0.973,0.99,16.192,"FamilyBased",".","ASD","WES",".","."]
[5082,25363768,3,130626548,130626548,"G","A","DeNovo",".",".","3q22.1","splicing","COL6A6",131873,"NM_001102608:exon24:c.4941+1G>A",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",3.881,23.5,0.99,0.948,"D",".",".",".",".",0.066,0,4.85,0.917,1.048,0.083,0.155,13.852,"FamilyBased",".","ASD","WES",".","."]
[5127,25363768,3,158203163,158203163,"C","T","DeNovo",".",".","3q25.32","exonic","RSRC1",51319,".","stopgain","RSRC1:NM_001271838:exon4:c.C412T:p.R138X,RSRC1:NM_016625:exon4:c.C412T:p.R138X",".",".","rs764490596",{"v":8.66e-06,"d":"8.66E-06"},1E-4,0,0,0,0,0,0,".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",9.231,35,0.997,0.16,"N",".",".",".",".",0.732,0,-0.825,-0.022,-0.008,0.985,0.997,16.188,"FamilyBased",".","ASD","WES",".","."]
[5158,25363768,3,184170125,184170125,"G","GT","DeNovo",".",".","3q27.1","exonic","DVL3",1857,".","frameshift substitution","DVL3:NM_004423:exon14:c.1618delinsGT:p.Y540Vfs*42","Robinow syndrome, autosomal dominant 3, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WES",".","."]
[5191,25363768,3,196327033,196327033,"C","T","DeNovo",".",".","3q29","splicing","TM4SF19",116211,"NM_138461:exon3:c.202-1G>A;NM_001204897:exon3:c.202-1G>A",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",3.817,23.4,0.989,0.689,"D",".",".",".",".",0.078,0,4.49,0.871,0.935,0.093,0.275,9.02,"FamilyBased",".","ASD","WES",".","."]
[5225,25363768,4,6062431,6062431,"G","A","DeNovo",".",".","4p16.1","exonic","JAKMIP1",152789,".","stopgain","JAKMIP1:NM_001306134:exon9:c.C946T:p.R316X,JAKMIP1:NM_001099433:exon10:c.C1441T:p.R481X,JAKMIP1:NM_001306133:exon10:c.C1441T:p.R481X,JAKMIP1:NM_144720:exon10:c.C1441T:p.R481X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",9.061,35,0.979,0.58,"D",".",".",".",".",0.707,0,-0.772,0.038,0.113,0.83,0.069,13.907,"FamilyBased",".","ASD","WES",".","."]
[5228,25363768,4,6842187,6842187,"C","T","DeNovo",".",".","4p16.1","exonic","KIAA0232",9778,".","stopgain","KIAA0232:NM_001100590:exon3:c.C352T:p.R118X,KIAA0232:NM_014743:exon4:c.C352T:p.R118X",".","ID=COSM275668;OCCURENCE=1(urinary_tract),1(large_intestine)",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",14.144,44,0.998,0.977,"D",".",".",".",".",0.651,0,5.14,0.871,0.852,0.999,0.998,18.581,"FamilyBased",".","ASD","WES",".","."]
[5236,25363768,4,15007303,15007303,"A","C","DeNovo",".",".","4p15.32","splicing","CPEB2",132864,"NM_182646:exon2:c.1663-2A>C;NM_182485:exon2:c.1663-2A>C;NM_001177384:exon2:c.1663-2A>C;NM_001177383:exon2:c.1663-2A>C;NM_001177382:exon2:c.1663-2A>C;NM_001177381:exon2:c.1663-2A>C",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",3.395,23,0.994,0.998,"D",".",".",".",".",0.116,0,5.15,1.062,1.088,0.979,0.798,14.514,"FamilyBased",".","ASD","WES",".","."]
[5237,25363768,4,15688251,15688251,"G","A","DeNovo",".",".","4p15.32","exonic","FAM200B",285550,".","stopgain","FAM200B:NM_001145191:exon2:c.G1274A:p.W425X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",9.816,36,0.992,0.51,"D",".",".",".",".",0.651,0,1.62,0.373,0.827,0.987,0.992,4.973,"FamilyBased",".","ASD","WES",".","."]
[5243,25363768,4,24532938,24532938,"G","A","DeNovo",".",".","4p15.2","exonic","DHX15",1665,".","stopgain","DHX15:NM_001358:exon12:c.C2026T:p.R676X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",12.859,40,0.997,0.958,"D",".",".",".",".",0.732,0,3.71,-0.045,0.998,0.999,1,12.083,"FamilyBased",".","ASD","WES",".","."]
[5253,25363768,4,39407426,39407426,"T","TC","DeNovo",".",".","4p14","exonic","KLB",152831,".","frameshift substitution","KLB:NM_175737:exon1:c.477delinsTC:p.D161Rfs*25",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WES",".","."]
[5256,25363768,4,39898410,39898410,"G","T","DeNovo",".",".","4p14","exonic","PDS5A",23244,".","stopgain","PDS5A:NM_001100399:exon16:c.C1749A:p.C583X,PDS5A:NM_001100400:exon16:c.C1749A:p.C583X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",10.617,36,0.99,0.96,"D",".",".",".",".",0.707,0,2.73,0.069,0.142,0.998,0.992,5.946,"FamilyBased",".","ASD","WES",".","."]
[5264,25363768,4,47568984,47568984,"T","TG","DeNovo",".",".","4p12","exonic","ATP10D",57205,".","frameshift substitution","ATP10D:NM_020453:exon16:c.3001delinsTG:p.G1001Wfs*38",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WES",".","."]
[5270,25363768,4,48620674,48620674,"A","C","DeNovo",".",".","4p11","exonic","FRYL",285527,".","stopgain","FRYL:NM_015030:exon6:c.T279G:p.Y93X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"U",1,"A",".",".",".",".",".",".",".",3.459,23,0.906,0.162,"N",".",".",".",".",0.707,0,-10.6,-0.347,0.111,0.955,0.972,21.275,"FamilyBased",".","ASD","WES",".","."]
[5277,25363768,4,57023449,57023449,"G","T","DeNovo",".",".","4q12","exonic","POLR2B",5431,".","stopgain","POLR2B:NM_001303268:exon18:c.G2410T:p.E804X,POLR2B:NM_000938:exon19:c.G2635T:p.E879X,POLR2B:NM_001303269:exon20:c.G2614T:p.E872X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",14.871,48,0.998,0.974,"D",".",".",".",".",0.731,0,6.04,0.917,1.048,0.999,0.996,20.595,"FamilyBased",".","ASD","WES",".","."]
[5297,25363768,4,73492055,73492055,"C","T","DeNovo",".",".","4q13.3","exonic","AFM",173,".","stopgain","AFM:NM_001133:exon8:c.C1027T:p.R343X",".","ID=COSM278696;OCCURENCE=1(large_intestine)","rs201056224",0.0003,0.0002,0.0002,1E-4,0,0.0005,0,{"v":6.06e-05,"d":"6.06E-05"},1.99681E-4,".",".",".",".",".",".",".",".",".",".",".",0.835,"N",1,"A",".",".",".",".",".",".",".",11.223,37,0.997,0.046,"N",".",".",".",".",0.487,0,1.74,0.871,0.852,0.224,0.997,6.288,"FamilyBased",".","ASD","WES",".","."]
[5307,25363768,4,82355303,82355303,"C","T","DeNovo",".",".","4q21.22","splicing","HNRNPD",3184,"NM_031369:exon7:c.1041+1G>A;NM_031369:exon7:UTR3;NM_002138:exon7:c.951+1G>A;NM_002138:exon7:UTR3;NM_031370:exon8:c.1098+1G>A;NM_031370:exon8:UTR3;NM_001003810:exon6:c.894+1G>A;NM_001003810:exon6:UTR3",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WES",".","."]
[5315,25363768,4,84794624,84794624,"G","A","DeNovo",".",".","4q21.23","exonic","WDFY3",23001,".","stopgain","WDFY3:NM_014991:exon21:c.C3382T:p.R1128X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",12.794,40,0.998,0.975,"D",".",".",".",".",0.732,0,5.16,0.917,0.953,0.986,0.905,19.026,"FamilyBased",".","ASD","WES",".","."]
[5316,25363768,4,84797999,84797999,"T","A","DeNovo",".",".","4q21.23","exonic","WDFY3",23001,".","stopgain","WDFY3:NM_014991:exon18:c.A2932T:p.R978X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",12.092,38,0.998,0.959,"D",".",".",".",".",0.707,0,5.49,0.991,1.061,0.999,1,15.88,"FamilyBased",".","ASD","WES",".","."]
[5319,25363768,4,86775441,86775441,"G","A","DeNovo",".",".","4q21.3","splicing","PTPN13",5783,"NM_006264:exon34:c.5624-1G>A;NM_080683:exon35:c.5681-1G>A;NM_080684:exon32:c.5108-1G>A;NM_080685:exon35:c.5696-1G>A",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",4.886,24.9,0.995,0.998,"D",".",".",".",".",0.062,0,5.15,0.917,0.998,0.701,0.947,18.982,"FamilyBased",".","ASD","WES",".","."]
[5345,25363768,4,113311389,113311389,"C","T","DeNovo",".",".","4q26","exonic","ANK2",287,".","stopgain","ANK2:NM_001148:exon24:c.C2683T:p.R895X,ANK2:NM_020977:exon24:c.C2683T:p.R895X,ANK2:NM_001127493:exon25:c.C2620T:p.R874X","Cardiac arrhythmia, ankyrin-B-related, Autosomal dominant;Long QT syndrome 4, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",13.25,41,0.998,0.88,"D",".",".",".",".",0.707,0,3.22,-0.094,0.02,0.986,0.854,13.487,"FamilyBased",".","ASD","WES",".","."]
[5346,25363768,4,113330313,113330313,"C","T","DeNovo",".",".","4q26","exonic","ANK2",287,".","stopgain","ANK2:NM_001148:exon27:c.C2968T:p.R990X,ANK2:NM_020977:exon27:c.C2968T:p.R990X,ANK2:NM_001127493:exon29:c.C2941T:p.R981X","Cardiac arrhythmia, ankyrin-B-related, Autosomal dominant;Long QT syndrome 4, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",12.21,38,0.998,0.819,"D",".",".",".",".",0.707,0,3.98,-0.662,0.02,0.959,0.978,15.651,"FamilyBased",".","ASD","WES",".","."]
[5349,25363768,4,114839545,114839545,"G","A","DeNovo",".",".","4q26","exonic","NDST4",64579,".","stopgain","NDST4:NM_022569:exon11:c.C2119T:p.Q707X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",15.067,49,0.998,0.994,"D",".",".",".",".",0.487,0,6.17,0.917,1.048,1,1,20.879,"FamilyBased",".","ASD","WES",".","."]
[5373,25363768,4,143699172,143699172,"G","A","DeNovo",".",".","4q31.21","exonic","FREM3",166752,".","stopgain","FREM3:NM_001168235:exon1:c.C1504T:p.R502X",".",".","rs550459981",".",".",".",".",".",".",".",".",1.99681E-4,".",".",".",".",".",".",".",".",".",".",".",0.049,"N",1,"A",".",".",".",".",".",".",".",8.752,35,0.997,0.345,"N",".",".",".",".",0.447,0,1.22,-0.026,-0.362,0.985,0.049,11.712,"FamilyBased",".","ASD","WES",".","."]
[5380,25363768,4,148152526,148152526,"G","T","DeNovo",".",".","4q31.23","exonic","NR3C2",4306,".","stopgain","NR3C2:NM_001166104:exon5:c.C2102A:p.S701X,NR3C2:NM_000901:exon6:c.C2453A:p.S818X","Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy;Pseudohypoaldosteronism type I, autosomal dominant, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",14.444,46,0.997,0.992,"D",".",".",".",".",0.615,0,5.67,0.917,0.998,1,0.999,19.769,"FamilyBased",".","ASD","WES",".","."]
[5392,25363768,4,159350203,159350203,"C","CA","DeNovo",".",".","4q32.1","exonic","RAPGEF2",9693,".","frameshift substitution","RAPGEF2:NM_001351727:exon20:c.3296delinsCA:p.H1099Pfs*6,RAPGEF2:NM_001351728:exon20:c.3296delinsCA:p.H1099Pfs*6,RAPGEF2:NM_014247:exon20:c.3296delinsCA:p.H1099Pfs*6,RAPGEF2:NM_001351725:exon23:c.3431delinsCA:p.H1144Pfs*6,RAPGEF2:NM_001351726:exon23:c.3431delinsCA:p.H1144Pfs*6,RAPGEF2:NM_001351724:exon26:c.3779delinsCA:p.H1260Pfs*6",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WES",".","."]
[5401,25363768,4,183208158,183208158,"T","C","DeNovo",".",".","4q35.1","splicing","WWC2",80014,"NM_024949:exon3:c.445+2T>C",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",4.657,24.5,0.995,0.995,"D",".",".",".",".",0.106,0,5.27,0.991,1.061,0.956,0.723,15.364,"FamilyBased",".","ASD","WES",".","."]
[5412,25363768,5,240459,240459,"C","T","DeNovo",".",".","5p15.33","exonic","SDHA",6389,".","stopgain","SDHA:NM_001294332:exon10:c.C1390T:p.R464X,SDHA:NM_001330758:exon11:c.C1534T:p.R512X,SDHA:NM_004168:exon11:c.C1534T:p.R512X","Cardiomyopathy, dilated, 1GG;Leigh syndrome, Autosomal recessive, Mitochondrial;Mitochondrial respiratory chain complex II deficiency, Autosomal recessive;Paragangliomas 5, Autosomal dominant",".","rs748089700",{"v":5.02E-5,"d":"5.02E-05"},1E-4,0,0,0,{"v":4.57E-5,"d":"4.57E-05"},0.0011,{"v":6.06e-05,"d":"6.06E-05"},".","Likely pathogenic","Paragangliomas_5","RCV000411416.1","MedGen:OMIM","C3279992:614165",".",".",".",".",".",".",0,"U",1,"A",".",".",".",".",".",".",".",13.57,42,0.996,0.895,"D",".",".",".",".",0.707,0,3.94,-0.058,0.928,0.537,0.329,9.66,"FamilyBased",".","ASD","WES",".","."]
[5415,25363768,5,840494,840494,"C","A","DeNovo",".",".","5p15.33","splicing","ZDHHC11",79844,"NM_024786:exon5:c.784+1G>T",".",".",".",".","rs760431277",{"v":6.64e-05,"d":"6.64E-05"},0,0,0.0009,0,0,0,0,".",".",".",".",".",".",0,"D",0.998,"D",0.961,"D",".",".",1,"N",".",".",0.91,"T",-1.68,"N",0.161,1.557,13.62,0.736,0.743,"D",-0.971,"T",0.187,"T",0.696,0,2.74,0.871,0.655,0.948,0.072,5.674,"FamilyBased",".","ASD","WES",".","."]
[5461,25363768,5,55267218,55267218,"G","A","DeNovo",".",".","5q11.2","exonic","DHX29",54505,".","stopgain","DHX29:NM_001345964:exon23:c.C3292T:p.R1098X,DHX29:NM_001345965:exon23:c.C1537T:p.R513X,DHX29:NM_019030:exon23:c.C3445T:p.R1149X",".",".","rs368686402",{"v":1.67e-05,"d":"1.67E-05"},0,0,0,0,{"v":1.53e-05,"d":"1.53E-05"},0,{"v":6.12e-05,"d":"6.12E-05"},1.99681E-4,".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",12.75,40,0.995,0.834,"D",".",".",".",".",0.732,0,4.25,0.917,0.122,0.928,0.775,15.556,"FamilyBased",".","ASD","WES",".","."]
[5462,25363768,5,56100248,56100248,"G","A","DeNovo",".",".","5q11.2","exonic","ANKRD55",79722,".","stopgain","ANKRD55:NM_024669:exon12:c.C1780T:p.R594X",".","ID=COSM449782;OCCURENCE=1(breast)","rs139797482",1E-4,0,0.0002,0,0.0002,0.0002,0,0,".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",".",".",".",".",".",".",".",13.019,40,0.996,0.638,"D",".",".",".",".",0.487,0,3.84,-0.747,0.014,0.031,0.293,11.074,"FamilyBased",".","ASD","WES",".","."]
[5485,25363768,5,76606303,76606303,"C","T","DeNovo",".",".","5q13.3","exonic","IQGAP2",10788,".","stopgain","IQGAP2:NM_001285460:exon11:c.C1207T:p.R403X,IQGAP2:NM_006633:exon12:c.C1357T:p.R453X",".",".","rs772650342",{"v":1.7E-5,"d":"1.70E-05"},0,0,0,0,0,0,1E-4,".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",11.104,37,0.998,0.417,"N",".",".",".",".",0.732,0,1.07,-0.058,0.852,0.872,0.999,8.37,"FamilyBased",".","ASD","WES",".","."]
[5486,25363768,5,76627438,76627438,"G","A","DeNovo",".",".","5q13.3","exonic","IQGAP2",10788,".","stopgain","IQGAP2:NM_001285461:exon3:c.G209A:p.W70X,IQGAP2:NM_001285462:exon3:c.G209A:p.W70X,IQGAP2:NM_001285460:exon13:c.G1400A:p.W467X,IQGAP2:NM_006633:exon14:c.G1550A:p.W517X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",12.1,38,0.997,0.977,"D",".",".",".",".",0.706,0,4.92,0.917,1.048,0.996,0.996,16.731,"FamilyBased",".","ASD","WES",".","."]
[5501,25363768,5,98858990,98858990,"C","CA","DeNovo",".",".","5q15","exonic","CHD1",1105,".","frameshift substitution","CHD1:NM_001270:exon33:c.4550delinsTG:p.N1518Efs*6",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WES",".","."]
[5582,25363768,5,150251980,150251980,"C","CA","DeNovo",".",".","5q32","splicing","CAMK2A",815,"NM_171825:exon8:c.598+2G>TG;NM_015981:exon8:c.598+2G>TG",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WES",".","."]
[5612,25363768,5,170047568,170047568,"T","TA","DeNovo",".",".","5q35.1","exonic","DOCK2",1794,".","frameshift substitution","DOCK2:NM_004946:exon40:c.4025delinsTA:p.Y1342Lfs*28","Immunodeficiency 40, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WES",".","."]
[5614,25363768,5,171899966,171899966,"G","A","DeNovo",".",".","5q35.1","exonic","FBXW11",23291,".","stopgain","FBXW11:NM_033645:exon3:c.C406T:p.R136X,FBXW11:NM_012300:exon4:c.C508T:p.R170X,FBXW11:NM_033644:exon4:c.C469T:p.R157X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",9.813,36,0.993,0.828,"D",".",".",".",".",0.706,0,0.865,-0.683,0.079,0.964,0.995,13.481,"FamilyBased",".","ASD","WES",".","."]
[5620,25363768,5,173144585,173144585,"C","T","DeNovo",".",".","5q35.1","exonic","BNIP1",662,".","stopgain","BNIP1:NM_001205:exon1:c.C40T:p.Q14X,BNIP1:NM_013978:exon1:c.C40T:p.Q14X,BNIP1:NM_013979:exon1:c.C40T:p.Q14X,BNIP1:NM_013980:exon1:c.C40T:p.Q14X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",11.471,37,0.998,0.817,"D",".",".",".",".",0.442,0,5.07,0.871,0.935,1,1,18.634,"FamilyBased",".","ASD","WES",".","."]
[5629,25363768,5,176651839,176651839,"C","A","DeNovo",".",".","5q35.2","exonic","TSPAN17",26262,".","stopgain","TSPAN17:NM_001006616:exon3:c.C224A:p.S75X,TSPAN17:NM_012171:exon3:c.C224A:p.S75X,TSPAN17:NM_130465:exon3:c.C224A:p.S75X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.01,"N",1,"A",".",".",".",".",".",".",".",9.316,35,0.994,0.899,"D",".",".",".",".",0.706,0,1.73,0.871,0.807,0.997,0.999,6.898,"FamilyBased",".","ASD","WES",".","."]
[5636,25363768,5,178205868,178205868,"G","A","DeNovo",".",".","5q35.3","exonic","HNRNPAB",3182,".","stopgain","HNRNPAB:NM_004499:exon3:c.G236A:p.W79X,HNRNPAB:NM_031266:exon3:c.G236A:p.W79X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",10.985,37,0.997,0.979,"D",".",".",".",".",0.628,0,4.81,0.917,0.824,1,1,15.398,"FamilyBased",".","ASD","WES",".","."]
[5638,25363768,5,178712608,178712608,"G","A","DeNovo",".",".","5q35.3","exonic","ZNF354A",6940,".","stopgain","ZNF354A:NM_001324339:exon4:c.C1144T:p.R382X,ZNF354A:NM_005649:exon5:c.C1270T:p.R424X",".",".","rs552131359",{"v":1.65e-05,"d":"1.65E-05"},0,{"v":8.64e-05,"d":"8.64E-05"},0,0,{"v":1.5E-5,"d":"1.50E-05"},0,0,1.99681E-4,".",".",".",".",".",".",".",".",".",".",".",0.018,"N",1,"D",".",".",".",".",".",".",".",10.827,36,0.997,1E-3,"N",".",".",".",".",0.651,0,1.74,-0.02,0.014,0.732,0.998,7.911,"FamilyBased",".","ASD","WES",".","."]
[5639,25363768,5,178932409,178932409,"C","T","DeNovo",".",".","5q35.3","exonic","ZFP2",80108,".","stopgain","ZFP2:NM_030613:exon5:c.C1096T:p.R366X",".",".","rs142144812",0.0002,0,0.0003,0,0.0003,0.0002,0.0022,0,".",".",".",".",".",".",".",".",".",".",".",".",0.015,"N",1,"D",".",".",".",".",".",".",".",8.009,35,0.918,1E-3,"N",".",".",".",".",0.554,0,-6.23,0.067,-0.243,0.389,0.983,19.436,"FamilyBased",".","ASD","WES",".","."]
[5680,25363768,6,17605931,17605931,"C","T","DeNovo",".",".","6p22.3","exonic","FAM8A1",51439,".","stopgain","FAM8A1:NM_016255:exon4:c.C1015T:p.R339X",".",".","rs200897067",0.0002,0.0004,0,0,0.0002,0.0003,0,0.0002,".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",14.276,45,0.998,0.964,"D",".",".",".",".",0.732,0,5.75,0.871,0.935,1,1,14.752,"FamilyBased",".","ASD","WES",".","."]
[5696,25363768,6,26508500,26508500,"G","A","DeNovo",".",".","6p22.2","splicing","BTN1A1",696,"NM_001732:exon7:c.908-1G>A",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",3.126,22.6,0.987,0.961,"D",".",".",".",".",0.066,0,5.33,0.917,1.048,0.98,0.814,14.844,"FamilyBased",".","ASD","WES",".","."]
[5705,25363768,6,31557663,31557663,"C","CTG","DeNovo",".",".","6p21.33","exonic","NFKBIL1",4795,".","frameshift substitution","NFKBIL1:NM_001144961:exon3:c.370delinsCTG:p.C124Lfs*8,NFKBIL1:NM_001144962:exon3:c.301delinsCTG:p.C101Lfs*8,NFKBIL1:NM_001144963:exon3:c.301delinsCTG:p.C101Lfs*8,NFKBIL1:NM_005007:exon3:c.370delinsCTG:p.C124Lfs*8",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WES",".","."]
[5735,25363768,6,38580228,38580228,"G","A","DeNovo",".",".","6p21.2","exonic","BTBD9",114781,".","stopgain","BTBD9:NM_001172418:exon4:c.C847T:p.R283X,BTBD9:NM_152733:exon4:c.C820T:p.R274X,BTBD9:NM_001099272:exon5:c.C1024T:p.R342X,BTBD9:NM_052893:exon6:c.C1024T:p.R342X",".","ID=COSM1131874,COSM1131873;OCCURENCE=1(prostate)",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",13.124,41,0.998,0.863,"D",".",".",".",".",0.638,0,5.63,0.917,1.048,0.997,0.996,15.388,"FamilyBased",".","ASD","WES",".","."]
[5756,25363768,6,43141733,43141733,"C","T","DeNovo",".",".","6p21.1","exonic","PTK7",5754,".","stopgain","PTK7:NM_152881:exon8:c.C1294T:p.R432X,PTK7:NM_152880:exon10:c.C1564T:p.R522X,PTK7:NM_001270398:exon11:c.C1708T:p.R570X,PTK7:NM_002821:exon11:c.C1684T:p.R562X,PTK7:NM_152882:exon11:c.C1684T:p.R562X",".",".","rs776246516",{"v":1.65e-05,"d":"1.65E-05"},0,0,1E-4,0,0,0,{"v":6.06e-05,"d":"6.06E-05"},".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",11.383,37,0.998,0.868,"D",".",".",".",".",0.706,0,1.97,-0.058,0.852,0.481,0.997,14.746,"FamilyBased",".","ASD","WES",".","."]
[5777,25363768,6,53013976,53013976,"G","A","DeNovo",".",".","6p12.1","exonic","ICK",22858,".","stopgain","ICK:NM_014920:exon9:c.C838T:p.R280X,ICK:NM_016513:exon10:c.C838T:p.R280X","Endocrine-cerebroosteodysplasia, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",12.657,39,0.998,0.949,"D",".",".",".",".",0.707,0,4.19,0.917,1.048,1,1,15.559,"FamilyBased",".","ASD","WES",".","."]
[5792,25363768,6,72179689,72179689,"T","TA","DeNovo",".",".","6q13","exonic","RIMS1",22999,".","frameshift substitution","RIMS1:NM_014989:exon5:c.586delinsTA:p.T196Yfs*8","Cone-rod dystrophy 7",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WES",".","."]
[5793,25363768,6,72392787,72392787,"C","CA","DeNovo",".",".","6q13","exonic","RIMS1",22999,".","frameshift substitution","RIMS1:NM_001168411:exon3:c.176delinsCA:p.Q59Pfs*10,RIMS1:NM_001350419:exon16:c.1814delinsCA:p.Q605Pfs*10,RIMS1:NM_001350455:exon16:c.1817delinsCA:p.Q606Pfs*10,RIMS1:NM_001350426:exon17:c.1889delinsCA:p.Q630Pfs*10,RIMS1:NM_001350432:exon17:c.1877delinsCA:p.Q626Pfs*10,RIMS1:NM_001350440:exon17:c.1886delinsCA:p.Q629Pfs*10,RIMS1:NM_001168408:exon18:c.1970delinsCA:p.Q657Pfs*10,RIMS1:NM_001350427:exon18:c.1967delinsCA:p.Q656Pfs*10,RIMS1:NM_001350449:exon18:c.1949delinsCA:p.Q650Pfs*10,RIMS1:NM_001350465:exon18:c.1727delinsCA:p.Q576Pfs*10,RIMS1:NM_001350472:exon18:c.1922delinsCA:p.Q641Pfs*10,RIMS1:NM_001350473:exon18:c.1925delinsCA:p.Q642Pfs*10,RIMS1:NM_001168409:exon19:c.1799delinsCA:p.Q600Pfs*10,RIMS1:NM_001168410:exon19:c.1997delinsCA:p.Q666Pfs*10,RIMS1:NM_001350417:exon19:c.2042delinsCA:p.Q681Pfs*10,RIMS1:NM_001350422:exon19:c.2039delinsCA:p.Q680Pfs*10,RIMS1:NM_001350423:exon19:c.2303delinsCA:p.Q768Pfs*10,RIMS1:NM_001350424:exon19:c.1901delinsCA:p.Q634Pfs*10,RIMS1:NM_001350429:exon19:c.2333delinsCA:p.Q778Pfs*10,RIMS1:NM_001350444:exon19:c.2330delinsCA:p.Q777Pfs*10,RIMS1:NM_001350450:exon19:c.1898delinsCA:p.Q633Pfs*10,RIMS1:NM_001350468:exon19:c.2087delinsCA:p.Q696Pfs*10,RIMS1:NM_001350470:exon19:c.2003delinsCA:p.Q668Pfs*10,RIMS1:NM_001350474:exon19:c.2288delinsCA:p.Q763Pfs*10,RIMS1:NM_001350428:exon20:c.1973delinsCA:p.Q658Pfs*10,RIMS1:NM_001350430:exon20:c.1970delinsCA:p.Q657Pfs*10,RIMS1:NM_001350434:exon20:c.2117delinsCA:p.Q706Pfs*10,RIMS1:NM_001350438:exon20:c.2222delinsCA:p.Q741Pfs*10,RIMS1:NM_001350442:exon20:c.2225delinsCA:p.Q742Pfs*10,RIMS1:NM_001350445:exon20:c.2123delinsCA:p.Q708Pfs*10,RIMS1:NM_001350447:exon20:c.2402delinsCA:p.Q801Pfs*10,RIMS1:NM_001350467:exon20:c.2162delinsCA:p.Q721Pfs*10,RIMS1:NM_001350435:exon21:c.2504delinsCA:p.Q835Pfs*10,RIMS1:NM_001350439:exon21:c.2486delinsCA:p.Q829Pfs*10,RIMS1:NM_001350441:exon21:c.2483delinsCA:p.Q828Pfs*10,RIMS1:NM_001350443:exon21:c.2456delinsCA:p.Q819Pfs*10,RIMS1:NM_001350454:exon21:c.2465delinsCA:p.Q822Pfs*10,RIMS1:NM_001350457:exon21:c.2495delinsCA:p.Q832Pfs*10,RIMS1:NM_001350460:exon21:c.2435delinsCA:p.Q812Pfs*10,RIMS1:NM_001350463:exon21:c.2240delinsCA:p.Q747Pfs*10,RIMS1:NM_001350464:exon21:c.2243delinsCA:p.Q748Pfs*10,RIMS1:NM_001168407:exon22:c.2555delinsCA:p.Q852Pfs*10,RIMS1:NM_001350414:exon22:c.2516delinsCA:p.Q839Pfs*10,RIMS1:NM_001350418:exon22:c.2534delinsCA:p.Q845Pfs*10,RIMS1:NM_001350420:exon22:c.2669delinsCA:p.Q890Pfs*10,RIMS1:NM_001350421:exon22:c.2414delinsCA:p.Q805Pfs*10,RIMS1:NM_001350425:exon22:c.2513delinsCA:p.Q838Pfs*10,RIMS1:NM_001350431:exon22:c.2651delinsCA:p.Q884Pfs*10,RIMS1:NM_001350448:exon22:c.2558delinsCA:p.Q853Pfs*10,RIMS1:NM_001350458:exon22:c.2564delinsCA:p.Q855Pfs*10,RIMS1:NM_001350459:exon22:c.2417delinsCA:p.Q806Pfs*10,RIMS1:NM_001350461:exon22:c.2285delinsCA:p.Q762Pfs*10,RIMS1:NM_001350466:exon22:c.2246delinsCA:p.Q749Pfs*10,RIMS1:NM_001350469:exon22:c.2315delinsCA:p.Q772Pfs*10,RIMS1:NM_001350471:exon22:c.2396delinsCA:p.Q799Pfs*10,RIMS1:NM_001350415:exon23:c.2612delinsCA:p.Q871Pfs*10,RIMS1:NM_001350416:exon23:c.2561delinsCA:p.Q854Pfs*10,RIMS1:NM_001350433:exon23:c.2642delinsCA:p.Q881Pfs*10,RIMS1:NM_001350437:exon23:c.2498delinsCA:p.Q833Pfs*10,RIMS1:NM_001350446:exon23:c.2741delinsCA:p.Q914Pfs*10,RIMS1:NM_001350456:exon23:c.2738delinsCA:p.Q913Pfs*10,RIMS1:NM_001350462:exon23:c.2600delinsCA:p.Q867Pfs*10,RIMS1:NM_001350436:exon24:c.2747delinsCA:p.Q916Pfs*10,RIMS1:NM_014989:exon31:c.4595delinsCA:p.Q1532Pfs*10","Cone-rod dystrophy 7",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WES",".","."]
[5812,25363768,6,89780211,89780211,"C","T","DeNovo",".",".","6q15","splicing","MDN1",23195,"NM_014611:exon11:c.1725+1G>A",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",5.688,26.8,0.994,0.98,"D",".",".",".",".",0.156,0,5.25,0.871,0.935,0.991,0.998,17.827,"FamilyBased",".","ASD","WES",".","."]
[5814,25363768,6,89871287,89871287,"A","G","DeNovo",".",".","6q15","splicing","CASP8AP2",9994,"NM_012115:exon9:c.5793-2A>G;NM_001137668:exon9:c.5793-2A>G;NM_001137667:exon9:c.5793-2A>G",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",5.295,25.7,0.994,0.991,"D",".",".",".",".",0.156,0,5.73,1.062,1.14,0.967,0.932,16.01,"FamilyBased",".","ASD","WES",".","."]
[5821,25363768,6,99445819,99445819,"G","T","DeNovo",".",".","6q16.2","exonic","USP45",85015,".","stopgain","USP45:NM_001346024:exon12:c.C1779A:p.Y593X,USP45:NM_001346025:exon12:c.C1776A:p.Y592X,USP45:NM_001346028:exon13:c.C873A:p.Y291X,USP45:NM_001080481:exon14:c.C1953A:p.Y651X,USP45:NM_001346021:exon14:c.C1953A:p.Y651X,USP45:NM_001346022:exon14:c.C1953A:p.Y651X,USP45:NM_001346023:exon14:c.C1950A:p.Y650X,USP45:NM_001346026:exon14:c.C1953A:p.Y651X,USP45:NM_001346027:exon14:c.C873A:p.Y291X,USP45:NM_001346029:exon14:c.C873A:p.Y291X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.369,"N",1,"A",".",".",".",".",".",".",".",10.007,36,0.994,0.939,"D",".",".",".",".",0.651,0,2.8,0.917,1.048,0.528,0.616,6.038,"FamilyBased",".","ASD","WES",".","."]
[5839,25363768,6,117578977,117578977,"G","A","DeNovo",".",".","6q22.1","exonic","GOPC",57120,".","stopgain","GOPC:NM_001017408:exon2:c.C373T:p.Q125X,GOPC:NM_020399:exon2:c.C373T:p.Q125X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",12.503,39,0.998,0.992,"D",".",".",".",".",0.732,0,5.71,0.917,0.998,1,0.998,19.843,"FamilyBased",".","ASD","WES",".","."]
[5890,25363768,6,157189672,157189672,"A","AC","DeNovo",".",".","6q25.3","exonic","ARID1B",57492,".","frameshift substitution","ARID1B:NM_017519:exon13:c.3542delinsAC:p.T1181Nfs*16,ARID1B:NM_001346813:exon14:c.3701delinsAC:p.T1234Nfs*16,ARID1B:NM_020732:exon14:c.3581delinsAC:p.T1194Nfs*16","Coffin-Siris syndrome 1, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WES",".","."]
[5898,25363768,6,158682974,158682974,"A","T","DeNovo",".",".","6q25.3","exonic","SYTL3",94120,".","stopgain","SYTL3:NM_001242394:exon6:c.A379T:p.K127X,SYTL3:NM_001242395:exon6:c.A379T:p.K127X,SYTL3:NM_001009991:exon7:c.A379T:p.K127X,SYTL3:NM_001242384:exon7:c.A379T:p.K127X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",14.74,47,0.997,0.893,"D",".",".",".",".",0.615,0,5.34,1.062,1.172,1,1,11.999,"FamilyBased",".","ASD","WES",".","."]
[5916,25363768,6,170283988,170283988,"C","CA","DeNovo",".",".","6q27","exonic","DLL1",28514,".","frameshift substitution","DLL1:NM_005618:exon9:c.1291delinsTG:p.C431Wfs*11",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WES",".","."]
[5932,25363768,7,5308231,5308231,"G","A","DeNovo",".",".","7p22.1","exonic","TNRC18",84629,".","stopgain","TNRC18:NM_001080495:exon30:c.C8782T:p.Q2928X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",14.631,47,0.996,0.975,"D",".",".",".",".",0.707,0,4.44,0.917,0.864,0.998,0.988,16.647,"FamilyBased",".","ASD","WES",".","."]
[5939,25363768,7,6621559,6621559,"C","T","DeNovo",".",".","7p22.1","exonic","ZNF853",54753,".","stopgain","ZNF853:NM_017560:exon3:c.C568T:p.Q190X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",6.735,32,0.995,0.202,"N",".",".",".",".",0.696,0,1.39,0.033,0.935,0.09,0.118,5.83,"FamilyBased",".","ASD","WES",".","."]
[5945,25363768,7,11447395,11447395,"G","A","DeNovo",".",".","7p21.3","exonic","THSD7A",221981,".","stopgain","THSD7A:NM_015204:exon12:c.C2635T:p.Q879X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",13.429,42,0.999,0.993,"D",".",".",".",".",0.638,0,5.73,0.917,1.048,0.999,0.988,19.905,"FamilyBased",".","ASD","WES",".","."]
[5970,25363768,7,29480130,29480130,"T","TG","DeNovo",".",".","7p14.3","exonic","CHN2",1124,".","frameshift substitution","CHN2:NM_001039936:exon1:c.20delinsTG:p.W7Lfs*5,CHN2:NM_001293073:exon1:c.20delinsTG:p.W7Lfs*5,CHN2:NM_001293075:exon1:c.20delinsTG:p.W7Lfs*5,CHN2:NM_001293076:exon1:c.20delinsTG:p.W7Lfs*5,CHN2:NM_001293077:exon1:c.20delinsTG:p.W7Lfs*5,CHN2:NM_001293078:exon1:c.20delinsTG:p.W7Lfs*5,CHN2:NM_001293079:exon1:c.20delinsTG:p.W7Lfs*5,CHN2:NM_001293080:exon1:c.20delinsTG:p.W7Lfs*5",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WES",".","."]
[6015,25363768,7,66771921,66771921,"C","T","DeNovo",".",".","7q11.21","exonic","RABGEF1",27342,".","stopgain","RABGEF1:NM_001287061:exon2:c.C64T:p.R22X,RABGEF1:NM_014504:exon2:c.C22T:p.R8X,RABGEF1:NM_001287062:exon3:c.C22T:p.R8X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",8.545,35,0.997,0.896,"D",".",".",".",".",0.744,0,1.94,-0.103,-0.021,0.998,0.989,13.008,"FamilyBased",".","ASD","WES",".","."]
[6023,25363768,7,72948469,72948469,"G","C","DeNovo",".",".","7q11.23","exonic","POM121",9883,".","stoploss","POM121:NM_001257190:exon16:c.G2999C:p.X1000S",".",".","rs17145837",0.0051,1E-3,1E-3,0.0003,0.0283,0.0051,0.0055,3.3E-3,0.00279553,".",".",".",".",".",".",".",".",".",".",".",".",".",1,"N",".",".",".",".",".",".",".",-0.193,1.135,0.729,0.003,"N",".",".",".",".",0.295,0,0.23,-2.364,-0.724,0.011,0.004,9.173,"FamilyBased",".","ASD","WES",".","."]
[6040,25363768,7,87710581,87710581,"G","A","DeNovo",".",".","7q21.12","exonic","RUNDC3B",154661,".","stopgain","RUNDC3B:NM_001134405:exon4:c.G384A:p.W128X,RUNDC3B:NM_001134406:exon4:c.G384A:p.W128X,RUNDC3B:NM_138290:exon5:c.G435A:p.W145X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",".",".",".",".",".",".",".",12.62,39,0.995,0.996,"D",".",".",".",".",0.554,0,5.68,0.917,0.953,1,1,19.807,"FamilyBased",".","ASD","WES",".","."]
[6045,25363768,7,90899327,90899327,"T","TG","DeNovo",".",".","7q21.13","exonic","CDK14",5218,".","frameshift substitution","CDK14:NM_001287137:exon5:c.289delinsTG:p.G97Wfs*7,CDK14:NM_001287136:exon6:c.538delinsTG:p.G180Wfs*7,CDK14:NM_012395:exon6:c.622delinsTG:p.G208Wfs*7,CDK14:NM_001287135:exon7:c.676delinsTG:p.G226Wfs*7",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WES",".","."]
[6048,25363768,7,92096839,92096839,"C","T","DeNovo",".",".","7q21.2","exonic","AKAP9",10142,".","stopgain","AKAP9:NM_005751:exon41:c.C9880T:p.R3294X,AKAP9:NM_147185:exon41:c.C9856T:p.R3286X",".",".","rs145355395",{"v":1.65e-05,"d":"1.65E-05"},0,0,0,0,{"v":3e-05,"d":"3.00E-05"},0,0,".",".",".",".",".",".",".",".",".",".",".",".",0.004,"N",1,"A",".",".",".",".",".",".",".",14.469,46,0.995,0.971,"D",".",".",".",".",0.719,0,4.67,0.871,0.935,0.949,0.975,6.66,"FamilyBased",".","ASD","WES",".","."]
[6069,25363768,7,100201111,100201111,"G","T","DeNovo",".",".","7q22.1","exonic","STAG3",10734,".","stopgain","STAG3:NM_001282718:exon18:c.G1909T:p.E637X,STAG3:NM_001282716:exon20:c.G2083T:p.E695X,STAG3:NM_001282717:exon20:c.G2083T:p.E695X,STAG3:NM_012447:exon20:c.G2083T:p.E695X","Premature ovarian failure 8, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",2E-3,"N",1,"D",".",".",".",".",".",".",".",13.218,41,0.998,0.997,"D",".",".",".",".",0.706,0,5.73,0.917,1.048,1,0.998,17.393,"FamilyBased",".","ASD","WES",".","."]
[6075,25363768,7,100684594,100684594,"C","CCATCT","DeNovo",".",".","7q22.1","exonic","GIGYF1",64599,".","frameshift substitution","GIGYF1:NM_022574:exon13:c.1485delinsAGATGG:p.M495Ifs*18",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WES",".","."]
[6131,25363768,7,130127418,130127418,"C","T","DeNovo",".",".","7q32.2","exonic","KLHDC10",23008,".","stopgain","KLHDC10:NM_014997:exon8:c.C946T:p.R316X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",14.723,47,0.997,0.966,"D",".",".",".",".",0.732,0,4.79,-0.058,0.892,0.998,1,11.501,"FamilyBased",".","ASD","WES",".","."]
[6186,25363768,7,152145254,152145254,"G","T","DeNovo",".",".","7q36.1","exonic","KMT2C",58508,".","stopgain","KMT2C:NM_170606:exon54:c.C14073A:p.Y4691X",".",".","rs151023183",{"v":1.65e-05,"d":"1.65E-05"},0,0,0,0,{"v":3e-05,"d":"3.00E-05"},0,0,".",".",".",".",".",".",".",".",".",".",".",".",1E-3,"U",1,"A",".",".",".",".",".",".",".",10.696,36,0.919,0.259,"N",".",".",".",".",0.722,0,-9.16,0.045,-0.609,0.996,0.986,22.332,"FamilyBased",".","ASD","WES",".","."]
[6218,25363768,8,10898002,10898002,"G","A","DeNovo",".",".","8p23.1","exonic","XKR6",286046,".","stopgain","XKR6:NM_173683:exon3:c.C1876T:p.R626X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",".",".",".",".",".",".",".",12.498,39,0.996,0.946,"D",".",".",".",".",0.615,0,4.55,0.917,0.933,0.999,0.999,10.298,"FamilyBased",".","ASD","WES",".","."]
[6229,25363768,8,17755101,17755101,"G","C","DeNovo",".",".","8p22","exonic","MTUS1",57509,".","stopgain","MTUS1:NM_001001924:exon2:c.C707G:p.S236X,MTUS1:NM_001001925:exon2:c.C707G:p.S236X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.087,"N",1,"A",".",".",".",".",".",".",".",6.45,29.8,0.964,0.386,"N",".",".",".",".",0.616,0,2.43,0.917,0.112,2E-3,0.003,8.285,"FamilyBased",".","ASD","WES",".","."]
[6251,25363768,8,25399913,25399913,"C","CT","DeNovo",".",".","8p21.2","exonic","DOCK5",80005,".","frameshift substitution","DOCK5:NM_024940:exon46:c.4707delinsCT:p.T1572Yfs*10",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WES",".","."]
[6264,25363768,8,39637652,39637652,"G","A","DeNovo",".",".","8p11.22","exonic","ADAM18",8749,".","stopgain","ADAM18:NM_001320313:exon8:c.G704A:p.W235X,ADAM18:NM_014237:exon9:c.G776A:p.W259X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.044,"N",1,"A",".",".",".",".",".",".",".",12.088,38,0.997,0.956,"D",".",".",".",".",0.487,0,5.3,0.917,1.036,0.494,0.828,14.4,"FamilyBased",".","ASD","WES",".","."]
[6289,25363768,8,60572063,60572063,"C","T","DeNovo",".",".","8q12.1","exonic","RAB2A",5862,".","stopgain","RAB2A:NM_001242644:exon2:c.C64T:p.R22X,RAB2A:NM_002865:exon3:c.C136T:p.R46X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",13.417,42,0.996,0.881,"D",".",".",".",".",0.732,0,5.75,0.871,0.931,1,0.972,16.861,"FamilyBased",".","ASD","WES",".","."]
[6328,25363768,8,102275578,102275578,"A","AT","DeNovo",".",".","8q22.3","exonic","UBR5",51366,".","frameshift substitution","UBR5:NM_001282873:exon47:c.6672delinsAT:p.R2226Pfs*20,UBR5:NM_015902:exon47:c.6672delinsAT:p.R2226Pfs*20",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WES",".","."]
[6346,25363768,8,123775203,123775203,"C","T","DeNovo",".",".","8q24.13","exonic","FAM91A1",157769,".","stopgain","FAM91A1:NM_001317918:exon3:c.C214T:p.R72X,FAM91A1:NM_144963:exon3:c.C214T:p.R72X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"U",1,"A",".",".",".",".",".",".",".",11.728,38,0.998,0.946,"D",".",".",".",".",0.707,0,5.33,0.871,0.935,0.973,0.993,12.686,"FamilyBased",".","ASD","WES",".","."]
[6366,25363768,8,142524238,142524238,"C","G","DeNovo",".",".","8q24.3","exonic","ADGRB1",575,".","stopgain","ADGRB1:NM_001702:exon22:c.C3246G:p.Y1082X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",2E-3,"U",1,"A",".",".",".",".",".",".",".",11.939,38,0.997,0.953,"D",".",".",".",".",0.696,0,2.19,-0.094,-0.024,0.857,0.896,7.07,"FamilyBased",".","ASD","WES",".","."]
[6373,25363768,8,143577061,143577061,"C","T","DeNovo",".",".","8q24.3","splicing","NAPRT",93100,"NM_001286829:exon5:c.684+1G>A;NM_145201:exon5:c.684+1G>A;NM_001286829:exon5:c.684+1G>A;NM_145201:exon5:c.684+1G>A",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",4.723,24.6,0.992,0.633,"D",".",".",".",".",0.256,0,4.39,0.871,0.852,0.906,0.976,9.467,"FamilyBased",".","ASD","WES",".","."]
[6387,25363768,8,144509764,144509764,"A","AAGCTGGGGGCCGCGCT","DeNovo",".",".","8q24.3","exonic","MFSD3",113655,".","frameshift substitution","MFSD3:NM_138431:exon1:c.431delinsAAGCTGGGGGCCGCGCT:p.L145Afs*90",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WES",".","."]
[6389,25363768,9,712165,712165,"G","T","DeNovo",".",".","9p24.3","exonic","KANK1",23189,".","stopgain","KANK1:NM_153186:exon2:c.G925T:p.E309X,KANK1:NM_015158:exon3:c.G1399T:p.E467X,KANK1:NM_001256877:exon4:c.G1399T:p.E467X,KANK1:NM_001256876:exon7:c.G1399T:p.E467X","Cerebral palsy, spastic quadriplegic, 2",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1E-3,"D",1,"A",".",".",".",".",".",".",".",13.208,41,0.998,0.981,"D",".",".",".",".",0.707,0,5.52,0.917,1.047,0.997,1,19.051,"FamilyBased",".","ASD","WES",".","."]
[6404,25363768,9,5892550,5892550,"G","T","DeNovo",".",".","9p24.1","exonic","MLANA",2315,".","stopgain","MLANA:NM_005511:exon2:c.G76T:p.E26X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.01,"N",1,"A",".",".",".",".",".",".",".",11.421,37,0.997,0.875,"D",".",".",".",".",0.554,0,4.72,0.917,0.974,0.992,0.997,12.77,"FamilyBased",".","ASD","WES",".","."]
[6408,25363768,9,12708090,12708090,"A","ATGTT","DeNovo",".",".","9p23","exonic","TYRP1",7306,".","frameshift substitution","TYRP1:NM_000550:exon7:c.1355delinsATGTT:p.M452Nfs*15","Albinism, oculocutaneous, type III, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WES",".","."]
[6410,25363768,9,14150144,14150144,"C","T","DeNovo",".",".","9p23","splicing","NFIB",4781,"NM_005596:exon5:c.806+1G>A;NM_001190738:exon5:c.884+1G>A;NM_001190737:exon5:c.806+1G>A;NM_001282787:exon4:c.50+1G>A",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",5.515,26.3,0.996,0.993,"D",".",".",".",".",0.099,0,5.25,0.871,0.935,0.989,0.984,19.232,"FamilyBased",".","ASD","WES",".","."]
[6413,25363768,9,15784695,15784695,"G","A","DeNovo",".",".","9p22.3","splicing","CCDC171",203238,"NM_173550:exon21:c.3267+1G>A;NM_001348002:exon22:c.3012+1G>A",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",5.361,25.9,0.995,0.981,"D",".",".",".",".",0.075,0,4.98,0.917,1.029,0.957,0.963,18.597,"FamilyBased",".","ASD","WES",".","."]
[6423,25363768,9,21207038,21207038,"A","T","DeNovo",".",".","9p21.3","exonic","IFNA10",3446,".","stopgain","IFNA10:NM_002171:exon1:c.T60A:p.C20X",".",".","rs10119910",0.2213,0.3238,0.3223,0.4953,0.1966,0.1677,0.2113,0.1724,".",".",".",".",".",".",".",".",".",".",".",".",0.12,"N",0,"P",".",".",".",".",".",".",".",5.574,26.4,0.985,2E-3,"N",".",".",".",".",0.487,0,-0.945,-0.016,-0.15,0.024,0.025,3.022,"FamilyBased",".","ASD","WES",".","."]
[6425,25363768,9,25677690,25677690,"C","T","DeNovo",".",".","9p21.2","exonic","TUSC1",286319,".","stopgain","TUSC1:NM_001004125:exon1:c.G632A:p.W211X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.888,"U",1,"N",".",".",".",".",".",".",".",8.667,35,0.822,0.029,"N",".",".",".",".",0.554,0,0.619,0.791,0.67,0.077,0.016,0.277,"FamilyBased",".","ASD","WES",".","."]
[6432,25363768,9,33796794,33796794,"C","A","DeNovo",".",".","9p13.3","exonic","PRSS3",5646,".","stopgain","PRSS3:NM_001197098:exon2:c.C171A:p.C57X,PRSS3:NM_002771:exon2:c.C192A:p.C64X,PRSS3:NM_007343:exon2:c.C363A:p.C121X,PRSS3:NM_001197097:exon3:c.C234A:p.C78X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",9.6,36,0.994,0.926,"D",".",".",".",".",0.537,0,3.21,0.666,0.444,0.993,0.091,12.305,"FamilyBased",".","ASD","WES",".","."]
[6452,25363768,9,35739077,35739077,"G","A","DeNovo",".",".","9p13.3","exonic","GBA2",57704,".","stopgain","GBA2:NM_001330660:exon11:c.C1720T:p.R574X,GBA2:NM_020944:exon11:c.C1720T:p.R574X","Spastic paraplegia 46, autosomal recessive, Autosomal recessive",".","rs759632589",{"v":8.55e-06,"d":"8.55E-06"},0,0,0,0,{"v":1.55e-05,"d":"1.55E-05"},0,0,".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",11.643,37,0.997,0.932,"D",".",".",".",".",0.672,0,4.74,0.917,1.048,0.982,0.997,15.459,"FamilyBased",".","ASD","WES",".","."]
[6453,25363768,9,36375932,36375932,"A","G","DeNovo",".",".","9p13.2","splicing","RNF38",152006,"NM_022781:exon3:c.356+2T>C;NM_194328:exon3:c.107+2T>C;NM_194329:exon2:c.206+2T>C;NM_194332:exon2:c.107+2T>C;NM_194330:exon3:c.107+2T>C;NM_022781:exon3:c.356+2T>C;NM_194328:exon3:c.107+2T>C;NM_194329:exon2:c.206+2T>C;NM_194332:exon2:c.107+2T>C;NM_194330:exon3:c.107+2T>C",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",5.108,25.3,0.994,0.989,"D",".",".",".",".",0.295,0,5.93,1.062,1.199,1,1,14.346,"FamilyBased",".","ASD","WES",".","."]
[6489,25363768,9,92265044,92265044,"C","A","DeNovo",".",".","9q22.31","exonic","IARS",3376,".","stopgain","IARS:NM_002161:exon16:c.G1585T:p.E529X,IARS:NM_013417:exon16:c.G1585T:p.E529X","Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",13.12,41,0.998,0.964,"D",".",".",".",".",0.672,0,5.4,0.871,0.892,1,1,18.765,"FamilyBased",".","ASD","WES",".","."]
[6492,25363768,9,92515075,92515075,"G","A","DeNovo",".",".","9q22.31","exonic","ECM2",1842,".","stopgain","ECM2:NM_001197295:exon4:c.C544T:p.R182X,ECM2:NM_001197296:exon4:c.C544T:p.R182X,ECM2:NM_001393:exon4:c.C610T:p.R204X",".",".","rs368116708",{"v":2.47e-05,"d":"2.47E-05"},{"v":9.62e-05,"d":"9.62E-05"},0,0,0,{"v":1.5E-5,"d":"1.50E-05"},0,{"v":6.06e-05,"d":"6.06E-05"},".",".",".",".",".",".",".",".",".",".",".",".",0.584,"N",1,"A",".",".",".",".",".",".",".",8.668,35,0.997,0.313,"N",".",".",".",".",0.554,0,4.69,0.573,1.048,0.332,0.767,12.916,"FamilyBased",".","ASD","WES",".","."]
[6494,25363768,9,93675706,93675706,"C","T","DeNovo",".",".","9q22.31","exonic","PHF2",5253,".","stopgain","PHF2:NM_005392:exon20:c.C2749T:p.Q917X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",14.315,45,0.998,0.983,"D",".",".",".",".",0.707,0,5.13,0.871,0.935,0.915,0.944,18.564,"FamilyBased",".","ASD","WES",".","."]
[6512,25363768,9,101535553,101535553,"G","A","DeNovo",".",".","9q31.1","splicing","RNF20",56254,"NM_019592:exon2:c.129+1G>A",".",".",".",".","rs778779320",{"v":8.27e-06,"d":"8.27E-06"},0,0,0,0,{"v":1.5E-5,"d":"1.50E-05"},0,0,".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",5.28,25.7,0.995,0.988,"D",".",".",".",".",0.256,0,4.94,0.917,0.953,0.993,0.994,17.789,"FamilyBased",".","ASD","WES",".","."]
[6521,25363768,9,108862728,108862728,"C","T","DeNovo",".",".","9q31.3","exonic","ACTL7A",10881,".","stopgain","ACTL7A:NM_006687:exon1:c.C406T:p.R136X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1E-3,"N",1,"D",".",".",".",".",".",".",".",9.461,35,0.998,0.819,"D",".",".",".",".",0.497,0,1.57,-0.058,-0.005,0.929,0.936,9.724,"FamilyBased",".","ASD","WES",".","."]
[6523,25363768,9,109420509,109420509,"C","A","DeNovo",".",".","9q31.3","exonic","PTPN3",5774,".","stopgain","PTPN3:NM_001145372:exon3:c.G232T:p.E78X,PTPN3:NM_001145371:exon4:c.G367T:p.E123X,PTPN3:NM_001145370:exon8:c.G700T:p.E234X,PTPN3:NM_001145369:exon9:c.G835T:p.E279X,PTPN3:NM_001145368:exon13:c.G1093T:p.E365X,PTPN3:NM_002829:exon14:c.G1228T:p.E410X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",13.511,42,0.998,0.99,"D",".",".",".",".",0.615,0,6.17,0.871,0.935,0.987,0.917,20.879,"FamilyBased",".","ASD","WES",".","."]
[6532,25363768,9,114062675,114062675,"A","G","DeNovo",".",".","9q32","splicing","AMBP",259,"NM_001633:exon7:c.685+2T>C",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",4.044,23.7,0.991,0.915,"D",".",".",".",".",0.096,0,4.94,1.062,1.199,0.96,0.944,10.914,"FamilyBased",".","ASD","WES",".","."]
[6542,25363768,9,120962749,120962749,"G","A","DeNovo",".",".","9q33.2","exonic","C5",727,".","stopgain","C5:NM_001317163:exon36:c.C4444T:p.R1482X,C5:NM_001735:exon36:c.C4426T:p.R1476X","C5 deficiency",".","rs121909588",{"v":7.42e-05,"d":"7.42E-05"},0.0003,0,0,0.0002,{"v":7.5e-05,"d":"7.50E-05"},0,0,".","Pathogenic","Leiner_disease","RCV000018579.28","MedGen:OMIM","C0343047:609536",".",".",".",".",".",".",1E-3,"N",1,"A",".",".",".",".",".",".",".",14.011,44,0.997,0.793,"D",".",".",".",".",0.638,0,5.76,0.917,1.048,0.997,0.978,12.417,"FamilyBased",".","ASD","WES",".","."]
[6566,25363768,9,127868458,127868458,"G","A","DeNovo",".",".","9q34.11","exonic","AK1",203,".","stopgain","AK1:NM_001318122:exon5:c.C427T:p.Q143X,AK1:NM_000476:exon6:c.C379T:p.Q127X,AK1:NM_001318121:exon6:c.C379T:p.Q127X","Hemolytic anemia due to adenylate kinase deficiency, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",2E-3,"N",1,"A",".",".",".",".",".",".",".",8.019,35,0.982,0.713,"D",".",".",".",".",0.706,0,-3.34,-0.044,0.04,0.869,0.989,12.446,"FamilyBased",".","ASD","WES",".","."]
[6605,25363768,9,136410128,136410128,"A","AT","DeNovo",".",".","9q34.3","exonic","SDCCAG3",10807,".","frameshift substitution","SDCCAG3:NM_001039707:exon2:c.182delinsAT:p.V62Cfs*23,SDCCAG3:NM_006643:exon2:c.182delinsAT:p.V62Cfs*14",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WES",".","."]
[6608,25363768,9,136502035,136502035,"C","T","DeNovo",".",".","9q34.3","exonic","NOTCH1",4851,".","stopgain","NOTCH1:NM_017617:exon29:c.G5438A:p.W1813X","Adams-Oliver syndrome 5, Autosomal dominant;Aortic valve disease 1, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",14.342,45,0.996,0.993,"D",".",".",".",".",0.707,0,4.54,0.871,0.825,0.993,0.981,16.606,"FamilyBased",".","ASD","WES",".","."]
[6624,25363768,9,137464348,137464348,"G","A","DeNovo",".",".","9q34.3","exonic","PNPLA7",375775,".","stopgain","PNPLA7:NM_152286:exon26:c.C3073T:p.Q1025X,PNPLA7:NM_001098537:exon27:c.C3148T:p.Q1050X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",11.954,38,0.998,0.987,"D",".",".",".",".",0.646,0,4.1,0.913,0.951,0.978,0.051,15.664,"FamilyBased",".","ASD","WES",".","."]
[6628,25363768,10,247397,247397,"G","A","DeNovo",".",".","10p15.3","splicing","ZMYND11",10771,"NM_006624:exon12:c.1159-1G>A;NM_001330057:exon13:c.1108-1G>A;NM_212479:exon12:c.1156-1G>A;NM_001202465:exon10:c.904-1G>A;NM_001202466:exon11:c.994-1G>A;NM_001202464:exon11:c.997-1G>A;NM_001202468:exon11:c.1159-1G>A;NM_001202467:exon10:c.997-1G>A",".",".","Mental retardation, autosomal dominant 30, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",5.95,27.6,0.995,0.995,"D",".",".",".",".",0.156,0,6.03,0.917,1.048,0.998,1,20.557,"FamilyBased",".","ASD","WES",".","."]
[6631,25363768,10,382669,382669,"G","GC","DeNovo",".",".","10p15.3","exonic","DIP2C",22982,".","frameshift substitution","DIP2C:NM_014974:exon17:c.1969delinsGC:p.L658Pfs*11",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WES",".","."]
[6644,25363768,10,5937161,5937161,"C","T","DeNovo",".",".","10p15.1","exonic","FBXO18",84893,".","stopgain","FBXO18:NM_178150:exon21:c.C3013T:p.Q1005X,FBXO18:NM_001258452:exon22:c.C2842T:p.Q948X,FBXO18:NM_001258453:exon22:c.C2791T:p.Q931X,FBXO18:NM_032807:exon22:c.C3166T:p.Q1056X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",2E-3,"N",1,"D",".",".",".",".",".",".",".",13.836,43,0.997,0.95,"D",".",".",".",".",0.745,0,5.24,0.871,0.927,0.991,0.946,17.674,"FamilyBased",".","ASD","WES",".","."]
[6660,25363768,10,17085756,17085756,"G","A","DeNovo",".",".","10p13","exonic","CUBN",8029,".","stopgain","CUBN:NM_001081:exon16:c.C1951T:p.R651X","Megaloblastic anemia-1, Finnish type, Autosomal recessive","ID=COSM1347133;OCCURENCE=1(large_intestine)","rs182512508",".",".",".",".",".",".",".",".",".","Likely pathogenic","Megaloblastic_anemia_due_to_inborn_errors_of_metabolism","RCV000049736.1","MedGen:OMIM:Orphanet:SNOMED_CT","C1306856:261100:ORPHA35858:34925000",".",".",".",".",".",".",0.005,"N",1,"A",".",".",".",".",".",".",".",14.008,44,0.998,0.983,"D",".",".",".",".",0.487,0,5.83,0.917,1.048,1,1,19.727,"FamilyBased",".","ASD","WES",".","."]
[6699,25363768,10,50245371,50245371,"T","TG","DeNovo",".",".","10q11.23","exonic","ASAH2",56624,".","frameshift substitution","ASAH2:NM_001143974:exon2:c.211delinsCA:p.H72Afs*39,ASAH2:NM_019893:exon2:c.211delinsCA:p.H72Afs*39",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WES",".","."]
[6700,25363768,10,51698490,51698490,"T","TA","DeNovo",".",".","10q21.1","exonic","CSTF2T",23283,".","frameshift substitution","CSTF2T:NM_015235:exon1:c.1060delinsTA:p.Y354*",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WES",".","."]
[6709,25363768,10,63380446,63380446,"G","A","DeNovo",".",".","10q21.3","exonic","JMJD1C",221037,".","stopgain","JMJD1C:NM_001322252:exon2:c.C205T:p.R69X,JMJD1C:NM_032776:exon2:c.C205T:p.R69X",".",".","rs745766811",{"v":8.32E-6,"d":"8.32E-06"},0,0,0,0,{"v":1.51e-05,"d":"1.51E-05"},0,0,".",".",".",".",".",".",".",".",".",".",".",".",0.072,"U",1,"A",".",".",".",".",".",".",".",11.786,38,0.998,0.948,"D",".",".",".",".",0.615,0,5.86,0.917,1.048,0.998,0.999,19.812,"FamilyBased",".","ASD","WES",".","."]
[6710,25363768,10,66775443,66775443,"C","A","DeNovo",".",".","10q21.3","splicing","CTNNA3",29119,"NM_013266:exon8:c.1128+1G>T;NM_001127384:exon8:c.1128+1G>T",".",".","Arrhythmogenic right ventricular dysplasia, familial, 13, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",5.424,26,0.996,0.99,"D",".",".",".",".",0.061,0,6.16,0.871,0.935,0.987,0.997,18.354,"FamilyBased",".","ASD","WES",".","."]
[6770,25363768,10,100183754,100183754,"C","CA","DeNovo",".",".","10q24.31","splicing","ERLIN1",10613,"NM_001100626:exon3:c.195+2G>TG;NM_006459:exon2:c.195+2G>TG;NM_001347857:exon3:c.195+2G>TG;NM_001347858:exon3:UTR5;NM_001347859:exon3:c.195+2G>TG;NM_001347860:exon3:c.195+2G>TG;NM_001347861:exon3:c.195+2G>TG",".",".","Spastic paraplegia 62, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WES",".","."]
[6780,25363768,10,102504235,102504235,"C","A","DeNovo",".",".","10q24.32","exonic","SUFU",51684,".","stopgain","SUFU:NM_001178133:exon1:c.C83A:p.S28X,SUFU:NM_016169:exon1:c.C83A:p.S28X","Basal cell nevus syndrome, Autosomal dominant;Medulloblastoma, desmoplastic, Autosomal recessive, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",10.574,36,0.984,0.857,"D",".",".",".",".",0.267,1,4.93,0.871,0.781,0.997,0.982,18.128,"FamilyBased",".","ASD","WES",".","."]
[6796,25363768,10,113141317,113141317,"G","A","DeNovo",".",".","10q25.3","splicing","TCF7L2",6934,"NM_001198528:exon5:c.616+1G>A;NM_001198525:exon5:c.616+1G>A;NM_030756:exon5:c.616+1G>A;NM_001198527:exon5:c.616+1G>A;NM_001146283:exon6:c.757+1G>A;NM_001146284:exon5:c.616+1G>A;NM_001146285:exon5:c.616+1G>A;NM_001146286:exon5:c.616+1G>A;NM_001198531:exon6:c.685+1G>A;NM_001198530:exon4:c.514+1G>A;NM_001198529:exon5:c.616+1G>A;NM_001198526:exon5:c.616+1G>A;NM_001146274:exon6:c.685+1G>A;NM_001349871:exon2:c.136+1G>A;NM_001349870:exon2:c.256+1G>A",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",6.006,27.9,0.994,0.993,"D",".",".",".",".",0.116,0,5.45,0.917,1.044,0.982,0.99,19.298,"FamilyBased",".","ASD","WES",".","."]
[6797,25363768,10,113151124,113151124,"G","A","DeNovo",".",".","10q25.3","splicing","TCF7L2",6934,"NM_001198528:exon8:c.932+1G>A;NM_001198525:exon8:c.947+1G>A;NM_030756:exon8:c.932+1G>A;NM_001198527:exon8:c.920+1G>A;NM_001146283:exon9:c.1073+1G>A;NM_001146284:exon8:c.920+1G>A;NM_001146285:exon8:c.932+1G>A;NM_001146286:exon8:c.932+1G>A;NM_001198531:exon9:c.1001+1G>A;NM_001198530:exon7:c.830+1G>A;NM_001198529:exon8:c.932+1G>A;NM_001198526:exon8:c.932+1G>A;NM_001146274:exon9:c.1001+1G>A;NM_001349871:exon5:c.452+1G>A;NM_001349870:exon5:c.572+1G>A",".",".",".","ID=COSM1560965,COSM1560967,COSM1560966;OCCURENCE=1(large_intestine)",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",5.336,25.8,0.995,0.988,"D",".",".",".",".",0.257,0,5.17,0.917,1.044,0.97,0.995,18.668,"FamilyBased",".","ASD","WES",".","."]
[6816,25363768,10,126504993,126504993,"A","AG","DeNovo",".",".","10q26.2","exonic","C10orf90",118611,".","frameshift substitution","C10orf90:NM_001004298:exon3:c.207delinsCT:p.L70Ffs*21,C10orf90:NM_001350921:exon4:c.498delinsCT:p.L167Ffs*21,C10orf90:NM_001350922:exon4:c.498delinsCT:p.L167Ffs*21,C10orf90:NM_001350923:exon4:c.498delinsCT:p.L167Ffs*21",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WES",".","."]
[6819,25363768,10,127384789,127384789,"G","C","DeNovo",".",".","10q26.2","splicing","DOCK1",1793,"NM_001290223:exon38:c.3808-1G>C;NM_001380:exon38:c.3745-1G>C",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",4.116,23.8,0.993,0.998,"D",".",".",".",".",0.162,0,4.61,0.917,1.048,0.897,0.934,17.641,"FamilyBased",".","ASD","WES",".","."]
[6844,25363768,11,428174,428174,"C","CT","DeNovo",".",".","11p15.5","exonic","ANO9",338440,".","frameshift substitution","ANO9:NM_001347882:exon14:c.816delinsAG:p.E273Gfs*206,ANO9:NM_001012302:exon15:c.1248delinsAG:p.E417Gfs*206",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WES",".","."]
[6865,25363768,11,1232543,1232543,"C","A","DeNovo",".",".","11p15.5","exonic","MUC5B",727897,".","stopgain","MUC5B:NM_002458:exon16:c.C1937A:p.S646X",".","ID=COSM1146609,COSM686510;OCCURENCE=1(lung)",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"A",".",".",".",".",".",".",".",10.498,36,0.996,0.044,"N",".",".",".",".",0.517,0,2.33,-0.058,-0.445,0.486,0.776,6.918,"FamilyBased",".","ASD","WES",".","."]
[6882,25363768,11,2407758,2407758,"C","T","DeNovo",".",".","11p15.5","splicing","TRPM5",29850,"NM_014555:exon19:c.2936+1G>A",".",".",".",".","rs533197634",{"v":3.35e-05,"d":"3.35E-05"},0,0,0,0,{"v":6.09e-05,"d":"6.09E-05"},0,0,".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",4.735,24.6,0.993,0.99,"D",".",".",".",".",0.057,0,3.16,0.598,0.852,0.814,0.911,14.156,"FamilyBased",".","ASD","WES",".","."]
[6887,25363768,11,4545434,4545434,"A","T","DeNovo",".",".","11p15.4","exonic","OR52M1",119772,".","stopgain","OR52M1:NM_001004137:exon1:c.A244T:p.K82X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",".",".",".",".",".",".",".",11.373,37,0.996,0.428,"N",".",".",".",".",0.487,0,4.82,1.062,1.194,0.869,1,13.644,"FamilyBased",".","ASD","WES",".","."]
[6898,25363768,11,6396195,6396195,"G","GC","DeNovo",".",".","11p15.4","exonic","APBB1",322,".","frameshift substitution","APBB1:NM_001257319:exon11:c.1033delinsGC:p.L346Pfs*11,APBB1:NM_001257320:exon11:c.916delinsGC:p.L307Pfs*11,APBB1:NM_001257323:exon11:c.1027delinsGC:p.L344Pfs*11,APBB1:NM_001257325:exon11:c.988delinsGC:p.L331Pfs*11,APBB1:NM_001257326:exon11:c.916delinsGC:p.L307Pfs*11,APBB1:NM_001164:exon12:c.1693delinsGC:p.L566Pfs*11,APBB1:NM_001257321:exon12:c.916delinsGC:p.L307Pfs*11,APBB1:NM_145689:exon12:c.1687delinsGC:p.L564Pfs*11",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WES",".","."]
[6912,25363768,11,9089725,9089725,"C","A","DeNovo",".",".","11p15.4","exonic","SCUBE2",57758,".","stopgain","SCUBE2:NM_001170690:exon2:c.G238T:p.E80X,SCUBE2:NM_001330199:exon2:c.G238T:p.E80X,SCUBE2:NM_020974:exon2:c.G238T:p.E80X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",12.719,40,0.996,0.923,"D",".",".",".",".",0.549,0,4.84,0.871,0.935,0.998,1,17.726,"FamilyBased",".","ASD","WES",".","."]
[6921,25363768,11,12226371,12226371,"G","A","DeNovo",".",".","11p15.3","splicing","MICAL2",9645,"NM_001346299:exon14:c.1888+1G>A;NM_001346297:exon14:c.1888+1G>A;NM_001346296:exon14:c.1888+1G>A;NM_001346298:exon13:c.1888+1G>A;NM_001346294:exon13:c.1888+1G>A;NM_001346293:exon14:c.1888+1G>A;NM_014632:exon14:c.1888+1G>A;NM_001282663:exon14:c.1888+1G>A;NM_001346292:exon13:c.1888+1G>A;NM_001346295:exon14:c.1888+1G>A;NM_001282664:exon13:c.1888+1G>A;NM_001282665:exon13:c.1888+1G>A;NM_001282667:exon12:c.1888+1G>A;NM_001282666:exon12:c.1888+1G>A",".",".",".",".","rs750901210",{"v":8.28e-06,"d":"8.28E-06"},0,{"v":8.69e-05,"d":"8.69E-05"},0,0,0,0,0,".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",5.389,26,0.995,0.998,"D",".",".",".",".",0.156,0,5.41,0.917,1.048,0.606,0.763,18.811,"FamilyBased",".","ASD","WES",".","."]
[6945,25363768,11,22255451,22255451,"C","T","DeNovo",".",".","11p14.3","exonic","ANO5",203859,".","stopgain","ANO5:NM_001142649:exon13:c.C1258T:p.Q420X,ANO5:NM_213599:exon13:c.C1261T:p.Q421X","Gnathodiaphyseal dysplasia, Autosomal dominant;Miyoshi muscular dystrophy 3, Autosomal recessive;Muscular dystrophy, limb-girdle, type 2L, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",13.387,42,0.999,0.986,"D",".",".",".",".",0.638,0,5.11,0.871,0.935,1,0.999,18.535,"FamilyBased",".","ASD","WES",".","."]
[6966,25363768,11,45928837,45928837,"C","T","DeNovo",".",".","11p11.2","exonic","LARGE2",120071,".","stopgain","LARGE2:NM_001300721:exon14:c.C2158T:p.R720X,LARGE2:NM_152312:exon14:c.C2158T:p.R720X,LARGE2:NM_001300722:exon15:c.C2065T:p.R689X",".",".","rs377190327",{"v":7.06e-05,"d":"7.06E-05"},0,0.0003,0.0004,0,{"v":1.62e-05,"d":"1.62E-05"},0,{"v":6.17e-05,"d":"6.17E-05"},1.99681E-4,".",".",".",".",".",".",".",".",".",".",".",0,"N",1,"N",".",".",".",".",".",".",".",8.284,35,0.884,0.051,"N",".",".",".",".",0.632,0,-0.117,-0.273,-0.242,0.028,0.004,3.353,"FamilyBased",".","ASD","WES",".","."]
[6984,25363768,11,55603905,55603905,"G","A","DeNovo",".",".","11q11","exonic","OR4C11",219429,".","stopgain","OR4C11:NM_001004700:exon1:c.C469T:p.Q157X",".",".","rs75423534",0.1293,0.0228,0.1761,1.8E-3,0.2852,0.1364,0.1328,0.1445,0.0690895,".",".",".",".",".",".",".",".",".",".",".",0,"U",0,"P",".",".",".",".",".",".",".",8.308,35,0.996,0.159,"N",".",".",".",".",0.487,0,4.34,-0.289,-0.036,0.005,2E-3,15.953,"FamilyBased",".","ASD","WES",".","."]
[7043,25363768,11,65172519,65172519,"C","T","DeNovo",".",".","11q13.1","exonic","SPDYC",387778,".","stopgain","SPDYC:NM_001008778:exon5:c.C430T:p.R144X",".",".","rs773763733",{"v":8.89e-06,"d":"8.89E-06"},0,0,1E-4,0,0,0,0,".",".",".",".",".",".",".",".",".",".",".",".",0.715,"N",1,"A",".",".",".",".",".",".",".",8.768,35,0.986,0.04,"N",".",".",".",".",0.554,0,2.63,0.871,0.935,1E-3,1E-3,5.282,"FamilyBased",".","ASD","WES",".","."]
[7046,25363768,11,65525966,65525966,"G","T","DeNovo",".",".","11q13.1","exonic","SCYL1",57410,".","stopgain","SCYL1:NM_001048218:exon3:c.G298T:p.G100X,SCYL1:NM_020680:exon3:c.G298T:p.G100X","Spinocerebellar ataxia, autosomal recessive 21, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.006,"N",1,"A",".",".",".",".",".",".",".",10.33,36,0.992,0.795,"D",".",".",".",".",0.733,0,3.24,-0.044,1.038,0.889,0.79,11.806,"FamilyBased",".","ASD","WES",".","."]
[7061,25363768,11,66590822,66590822,"C","A","DeNovo",".",".","11q13.2","exonic","CCDC87",55231,".","stopgain","CCDC87:NM_018219:exon1:c.G2194T:p.E732X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1E-3,"N",1,"D",".",".",".",".",".",".",".",11.566,37,0.995,0.911,"D",".",".",".",".",0.581,0,5.07,0.871,0.935,0.009,0.659,13.813,"FamilyBased",".","ASD","WES",".","."]
[7075,25363768,11,68171014,68171014,"C","T","DeNovo",".",".","11q13.2","splicing","KMT5B",51111,"NM_001300907:exon10:c.461+1G>A;NM_001300908:exon9:c.257+1G>A;NM_017635:exon9:c.977+1G>A;NM_001300909:exon8:c.908+1G>A;NM_016028:exon9:c.977+1G>A;NM_001300907:exon10:c.461+1G>A;NM_001300908:exon9:c.257+1G>A;NM_017635:exon9:c.977+1G>A;NM_001300909:exon8:c.908+1G>A;NM_016028:exon9:c.977+1G>A",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",4.404,24.1,0.994,0.985,"D",".",".",".",".",0.295,0,4.87,0.871,0.935,0.947,0.995,15.034,"FamilyBased",".","ASD","WES",".","."]
[7092,25363768,11,72093661,72093661,"G","A","DeNovo",".",".","11q13.4","exonic","LRTOMT",220074,".","stopgain","LRTOMT:NM_001205138:exon3:c.G194A:p.W65X,LRTOMT:NM_001145307:exon4:c.G248A:p.W83X,LRTOMT:NM_001271471:exon4:c.G248A:p.W83X,LRTOMT:NM_001318803:exon4:c.G248A:p.W83X,LRTOMT:NM_145309:exon4:c.G248A:p.W83X","Deafness, autosomal recessive 63, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",1.891,15.53,0.995,0.964,"D",".",".",".",".",0.672,0,5.6,0.917,1.029,1,1,18.383,"FamilyBased",".","ASD","WES",".","."]
[7094,25363768,11,72757857,72757857,"G","A","DeNovo",".",".","11q13.4","exonic","STARD10",10809,".","stopgain","STARD10:NM_006645:exon5:c.C487T:p.R163X",".",".","rs756222550",{"v":8.3e-06,"d":"8.30E-06"},0,0,1E-4,0,0,0,0,".",".",".",".",".",".",".",".",".",".",".",".",0,"U",1,"D",".",".",".",".",".",".",".",12.656,39,0.998,0.95,"D",".",".",".",".",0.737,0,4.81,0.917,1.048,1,1,12.009,"FamilyBased",".","ASD","WES",".","."]
[7096,25363768,11,73864332,73864332,"C","T","DeNovo",".",".","11q13.4","exonic","MRPL48",51642,".","stopgain","MRPL48:NM_001318500:exon6:c.C328T:p.R110X,MRPL48:NM_016055:exon8:c.C601T:p.R201X,MRPL48:NM_001318498:exon9:c.C547T:p.R183X,MRPL48:NM_001318499:exon9:c.C724T:p.R242X",".",".","rs768004272",{"v":8.56e-06,"d":"8.56E-06"},0,0,0,0,0,0,{"v":6.37e-05,"d":"6.37E-05"},".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",".",".",".",".",".",".",".",15.219,50,0.997,0.934,"D",".",".",".",".",0.732,0,5.86,0.871,0.935,0.999,1,18.052,"FamilyBased",".","ASD","WES",".","."]
[7114,25363768,11,85631810,85631810,"T","A","DeNovo",".",".","11q14.1","splicing","TMEM126B",55863,"NM_018480:exon2:c.203+2T>A;NM_001350394:exon2:c.203+2T>A;NM_001350395:exon3:c.143+2T>A;NM_001350396:exon3:c.113+2T>A;NM_001193537:exon3:c.143+2T>A;NM_001193538:exon3:c.113+2T>A;NM_001256546:exon3:c.113+2T>A",".",".","Mitochondrial complex I deficiency, Autosomal recessive, X-linked dominant, Mitochondrial",".","rs774378991",0.0004,0.0041,0.0006,0,0,{"v":3.55e-05,"d":"3.55E-05"},0,0,".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",4.757,24.7,0.986,0.927,"D",".",".",".",".",0.106,0,5.01,0.673,1.061,0.315,0.989,12.499,"FamilyBased",".","ASD","WES",".","."]
[7122,25363768,11,93729942,93729942,"C","CA","DeNovo",".",".","11q21","exonic","CEP295",85459,".","frameshift substitution","CEP295:NM_033395:exon28:c.7640delinsCA:p.Q2547Pfs*17",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WES",".","."]
[7125,25363768,11,94866169,94866169,"G","T","DeNovo",".",".","11q21","splicing","AMOTL1",154810,"NM_130847:exon11:c.2488+1G>T;NM_001301007:exon10:c.2338+1G>T",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",4.582,24.4,0.995,0.998,"D",".",".",".",".",0.106,0,5.23,0.917,1.048,0.953,0.991,18.826,"FamilyBased",".","ASD","WES",".","."]
[7159,25363768,11,116896266,116896266,"A","AAAAT","DeNovo",".",".","11q23.3","exonic","SIK3",23387,".","frameshift substitution","SIK3:NM_001281749:exon6:c.852delinsATTTT:p.F284Lfs*9,SIK3:NM_025164:exon6:c.852delinsATTTT:p.F284Lfs*9,SIK3:NM_001281748:exon7:c.375delinsATTTT:p.F125Lfs*9",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WES",".","."]
[7160,25363768,11,117163876,117163876,"C","G","DeNovo",".",".","11q23.3","exonic;splicing","PAFAH1B2;PAFAH1B2","5049;5049","NM_001184748:exon5:c.393+2C>G;NM_001184748:exon5:c.393+2C>G","nonsynonymous SNV","PAFAH1B2:NM_001309431:exon4:c.C251G:p.A84G,PAFAH1B2:NM_001184746:exon5:c.C395G:p.A132G,PAFAH1B2:NM_001184747:exon5:c.C395G:p.A132G,PAFAH1B2:NM_002572:exon5:c.C395G:p.A132G",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.008,"D",0.983,"D",0.877,"P",0,"D",1,"D",3.145,"M",0.63,"T",-2.72,"D",0.621,4.994,25.1,0.995,0.998,"D",-0.107,"T",0.412,"T",0.707,0,5.85,0.871,0.871,1,1,20.158,"FamilyBased",".","ASD","WES",".","."]
[7164,25363768,11,117430720,117430720,"A","G","DeNovo",".",".","11q23.3","splicing","DSCAML1",57453,"NM_020693:exon32:c.5866+2T>C",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",4.84,24.8,0.994,0.935,"D",".",".",".",".",0.057,0,5.04,1.062,1.14,0.998,0.998,14.933,"FamilyBased",".","ASD","WES",".","."]
[7186,25363768,11,121189787,121189787,"T","TGGAG","DeNovo",".",".","11q23.3","exonic","TECTA",7007,".","frameshift substitution","TECTA:NM_005422:exon22:c.6274delinsTGGAG:p.G2092Wfs*5","Deafness, autosomal dominant 8/12, Autosomal dominant;Deafness, autosomal recessive 21, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WES",".","."]
[7215,25363768,12,916708,916708,"C","CA","DeNovo",".",".","12p13.33","exonic","RAD52",5893,".","frameshift substitution","RAD52:NM_001297421:exon6:c.425delinsTG:p.Q143Afs*66,RAD52:NM_001297419:exon8:c.656delinsTG:p.Q220Afs*66,RAD52:NM_001297422:exon8:c.656delinsTG:p.Q220Afs*43,RAD52:NM_134424:exon8:c.656delinsTG:p.Q220Afs*66",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WES",".","."]
[7263,25363768,12,13570019,13570019,"T","C","DeNovo",".",".","12p13.1","splicing","GRIN2B",2904,"NM_000834:exon11:c.2172-2A>G",".",".","Epileptic encephalopathy, early infantile, 27, Autosomal dominant;Mental retardation, autosomal dominant 6",".","rs398122824",".",".",".",".",".",".",".",".",".","Pathogenic","Mental_retardation\\x2c_autosomal_dominant_6","RCV000032863.27","MedGen:OMIM","C3151411:613970",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",3.983,23.6,0.995,0.953,"D",".",".",".",".",0.061,0,5.6,0.991,0.964,0.987,0.862,14.366,"FamilyBased",".","ASD","WES",".","."]
[7264,25363768,12,13611828,13611828,"C","T","DeNovo",".",".","12p13.1","exonic","GRIN2B",2904,".","stopgain","GRIN2B:NM_000834:exon8:c.G1677A:p.W559X","Epileptic encephalopathy, early infantile, 27, Autosomal dominant;Mental retardation, autosomal dominant 6",".","rs398122825",".",".",".",".",".",".",".",".",".","Pathogenic","Mental_retardation\\x2c_autosomal_dominant_6","RCV000032864.27","MedGen:OMIM","C3151411:613970",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",13.91,43,0.997,0.983,"D",".",".",".",".",0.554,0,6.09,0.871,0.935,1,0.991,20.695,"FamilyBased",".","ASD","WES",".","."]
[7266,25363768,12,13866110,13866110,"T","TG","DeNovo",".",".","12p13.1","exonic","GRIN2B",2904,".","frameshift substitution","GRIN2B:NM_000834:exon2:c.99delinsCA:p.S34Kfs*25","Epileptic encephalopathy, early infantile, 27, Autosomal dominant;Mental retardation, autosomal dominant 6",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WES",".","."]
[7285,25363768,12,39369792,39369792,"G","GT","DeNovo",".",".","12q12","exonic","KIF21A",55605,".","frameshift substitution","KIF21A:NM_001173463:exon3:c.387delinsAC:p.H130Pfs*5,KIF21A:NM_001173464:exon3:c.387delinsAC:p.H130Pfs*5,KIF21A:NM_001173465:exon3:c.387delinsAC:p.H130Pfs*5,KIF21A:NM_017641:exon3:c.387delinsAC:p.H130Pfs*5","Fibrosis of extraocular muscles, congenital, 1, Autosomal dominant;Fibrosis of extraocular muscles, congenital, 3B, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WES",".","."]
[7327,25363768,12,52362250,52362250,"C","T","DeNovo",".",".","12q13.13","splicing","KRT85",3891,"NM_002283:exon7:c.1298+1G>A;NM_001300810:exon5:c.662+1G>A",".",".","Ectodermal dysplasia 4, hair/nail type, Autosomal recessive",".","rs760486834",{"v":8.26e-06,"d":"8.26E-06"},{"v":9.87E-5,"d":"9.87E-05"},0,0,0,0,0,0,".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",4.843,24.8,0.995,0.942,"D",".",".",".",".",0.049,0,5.06,0.871,0.935,0.914,0.852,18.434,"FamilyBased",".","ASD","WES",".","."]
[7352,25363768,12,56237232,56237232,"T","TG","DeNovo",".",".","12q13.3","exonic","SLC39A5",283375,".","frameshift substitution","SLC39A5:NM_001135195:exon10:c.1371delinsTG:p.L457Ffs*83,SLC39A5:NM_173596:exon12:c.1371delinsTG:p.L457Ffs*83","Myopia 24, autosomal dominant, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WES",".","."]
[7373,25363768,12,57631320,57631320,"G","GC","DeNovo",".",".","12q13.3","exonic","B4GALNT1",2583,".","frameshift substitution","B4GALNT1:NM_001276469:exon3:c.263delinsGC:p.L89Pfs*13,B4GALNT1:NM_001478:exon3:c.263delinsGC:p.L89Pfs*13","Spastic paraplegia 26, autosomal recessive, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WES",".","."]
[7404,25363768,12,82857207,82857207,"T","A","DeNovo",".",".","12q21.31","exonic","TMTC2",160335,".","stopgain","TMTC2:NM_001320322:exon2:c.T281A:p.L94X,TMTC2:NM_152588:exon2:c.T281A:p.L94X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",11.368,37,0.99,0.991,"D",".",".",".",".",0.653,0,5.86,0.991,1.061,0.996,0.997,15.131,"FamilyBased",".","ASD","WES",".","."]
[7411,25363768,12,93398857,93398857,"G","GT","DeNovo",".",".","12q22","splicing","NUDT4",11163,"NM_019094:exon4:c.340+2G>GT;NM_199040:exon4:c.343+2G>GT;NM_001301023:exon4:c.184+2G>GT;NM_001301024:exon4:c.184+2G>GT;NM_001301022:exon4:c.187+2G>GT",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WES",".","."]
[7412,25363768,12,94375912,94375912,"G","A","DeNovo",".",".","12q22","exonic","CEP83",51134,".","stopgain","CEP83:NM_001042399:exon7:c.C907T:p.R303X,CEP83:NM_001346457:exon7:c.C907T:p.R303X,CEP83:NM_001346459:exon7:c.C595T:p.R199X,CEP83:NM_001346461:exon7:c.C907T:p.R303X,CEP83:NM_001346462:exon7:c.C595T:p.R199X,CEP83:NM_001346458:exon8:c.C595T:p.R199X,CEP83:NM_001346460:exon8:c.C907T:p.R303X,CEP83:NM_016122:exon8:c.C907T:p.R303X","Nephronophthisis 18, Autosomal recessive",".","rs757301110",{"v":3.79E-5,"d":"3.79E-05"},1E-4,1E-4,0,0,{"v":2.42e-05,"d":"2.42E-05"},0,0,".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"A",".",".",".",".",".",".",".",8.332,35,0.993,0.807,"D",".",".",".",".",0.706,0,-0.268,0.917,-0.317,0.976,0.931,11.891,"FamilyBased",".","ASD","WES",".","."]
[7417,25363768,12,99648442,99648442,"C","T","DeNovo",".",".","12q23.1","exonic","FAM71C",196472,".","stopgain","FAM71C:NM_153364:exon1:c.C268T:p.R90X",".",".","rs181913768",{"v":2.47e-05,"d":"2.47E-05"},0,0,0,0,{"v":4.5e-05,"d":"4.50E-05"},0,0,1.99681E-4,".",".",".",".",".",".",".",".",".",".",".",0.257,"N",1,"N",".",".",".",".",".",".",".",6.584,31,0.99,0.01,"N",".",".",".",".",0.487,0,-2.73,-0.094,-0.996,0.151,0,3.301,"FamilyBased",".","ASD","WES",".","."]
[7430,25363768,12,106067491,106067491,"G","A","DeNovo",".",".","12q23.3","exonic","NUAK1",9891,".","stopgain","NUAK1:NM_014840:exon7:c.C1297T:p.Q433X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.005,"N",1,"D",".",".",".",".",".",".",".",11.777,38,0.998,0.977,"D",".",".",".",".",0.722,0,5.56,0.917,0.998,0.924,0.882,15.063,"FamilyBased",".","ASD","WES",".","."]
[7435,25363768,12,108531282,108531282,"T","C","DeNovo",".",".","12q23.3","splicing","SART3",9733,"NM_014706:exon14:c.1670-2A>G",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",5.109,25.3,0.994,0.987,"D",".",".",".",".",0.106,0,6.08,0.991,1.011,0.493,0.944,16.651,"FamilyBased",".","ASD","WES",".","."]
[7438,25363768,12,109139745,109139745,"A","AG","DeNovo",".",".","12q24.11","exonic","ACACB",32,".","frameshift substitution","ACACB:NM_001093:exon1:c.340delinsAG:p.E114Rfs*58",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WES",".","."]
[7454,25363768,12,115980749,115980749,"A","AC","DeNovo",".",".","12q24.21","splicing","MED13L",23389,"NM_015335:exon23:c.5364+1T>GT",".",".","Mental retardation and distinctive facial features with or without cardiac defects, Autosomal dominant;Transposition of the great arteries, dextro-looped 1, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WES",".","."]
[7455,25363768,12,115987147,115987147,"C","T","DeNovo",".",".","12q24.21","exonic","MED13L",23389,".","stopgain","MED13L:NM_015335:exon18:c.G4076A:p.W1359X","Mental retardation and distinctive facial features with or without cardiac defects, Autosomal dominant;Transposition of the great arteries, dextro-looped 1, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",14.679,47,0.996,0.985,"D",".",".",".",".",0.732,0,5.96,0.871,0.935,0.991,1,20.422,"FamilyBased",".","ASD","WES",".","."]
[7463,25363768,12,119697989,119697989,"C","CGT","DeNovo",".",".","12q24.23","exonic","CIT",11113,".","frameshift substitution","CIT:NM_007174:exon44:c.5563delinsACG:p.R1855Tfs*40,CIT:NM_001206999:exon45:c.5689delinsACG:p.R1897Tfs*40","Microcephaly 17, primary, autosomal recessive, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WES",".","."]
[7499,25363768,12,124956770,124956770,"G","A","DeNovo",".",".","12q24.31","exonic","DHX37",57647,".","stopgain","DHX37:NM_032656:exon18:c.C2374T:p.R792X",".",".","rs369473407",{"v":8.33e-06,"d":"8.33E-06"},0,0,0,0,{"v":1.51e-05,"d":"1.51E-05"},0,0,".",".",".",".",".",".",".",".",".",".",".",".",0.054,"N",1,"A",".",".",".",".",".",".",".",10.835,36,0.998,0.452,"N",".",".",".",".",0.707,0,2.29,-0.033,0.097,0.947,0.742,16.528,"FamilyBased",".","ASD","WES",".","."]
[7516,25363768,13,19661758,19661758,"C","T","DeNovo",".",".","13q12.11","exonic","MPHOSPH8",54737,".","stopgain","MPHOSPH8:NM_017520:exon8:c.C1852T:p.R618X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",7.095,33,0.887,0.119,"N",".",".",".",".",0.707,0,-9.15,0.067,-0.813,0.931,0.868,27.659,"FamilyBased",".","ASD","WES",".","."]
[7517,25363768,13,20631096,20631096,"T","G","DeNovo",".",".","13q12.11","exonic","IFT88",8100,".","stopgain","IFT88:NM_001318491:exon15:c.T1323G:p.Y441X,IFT88:NM_006531:exon16:c.T1380G:p.Y460X,IFT88:NM_001318493:exon17:c.T1407G:p.Y469X,IFT88:NM_175605:exon18:c.T1407G:p.Y469X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",11.271,37,0.996,0.962,"D",".",".",".",".",0.638,0,1.91,0.991,1.061,1,1,8.785,"FamilyBased",".","ASD","WES",".","."]
[7534,25363768,13,35555009,35555009,"C","T","DeNovo",".",".","13q13.3","exonic","NBEA",26960,".","stopgain","NBEA:NM_001204197:exon4:c.C208T:p.R70X,NBEA:NM_015678:exon44:c.C6829T:p.R2277X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",15.112,49,0.998,0.908,"D",".",".",".",".",0.615,0,3.98,-0.04,0.852,0.993,1,12.454,"FamilyBased",".","ASD","WES",".","."]
[7549,25363768,13,51374698,51374698,"G","A","DeNovo",".",".","13q14.3","exonic","INTS6",26512,".","stopgain","INTS6:NM_012141:exon14:c.C1828T:p.R610X,INTS6:NM_001039937:exon15:c.C1789T:p.R597X,INTS6:NM_001306091:exon16:c.C1294T:p.R432X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",13.428,42,0.998,0.964,"D",".",".",".",".",0.707,0,5.04,0.917,0.067,0.999,0.736,17.732,"FamilyBased",".","ASD","WES",".","."]
[7552,25363768,13,52141018,52141018,"T","TA","DeNovo",".",".","13q14.3","splicing","NEK3",4752,"NM_152720:exon11:c.927+2A>TA;NM_002498:exon11:c.927+2A>TA",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WES",".","."]
[7582,25363768,13,110638427,110638427,"C","T","DeNovo",".",".","13q34","exonic","NAXD",55739,".","stopgain","NAXD:NM_001242883:exon7:c.C613T:p.Q205X,NAXD:NM_001242881:exon10:c.C943T:p.Q315X,NAXD:NM_001242882:exon10:c.C889T:p.Q297X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",0.176,"B",0.095,"B",0.114,"N",1,"D",".",".",2.06,"T",-0.29,"N",0.078,1.473,13.17,0.993,0.925,"D",-0.924,"T",0.2,"T",0.707,0,3.61,-0.039,0.023,0.889,0.828,15.491,"FamilyBased",".","ASD","WES",".","."]
[7603,25363768,14,21391017,21391017,"A","AT","DeNovo",".",".","14q11.2","exonic","CHD8",57680,".","frameshift substitution","CHD8:NM_001170629:exon36:c.7112delinsAT:p.N2372*,CHD8:NM_020920:exon37:c.6275delinsAT:p.N2093*",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WES",".","."]
[7606,25363768,14,21402010,21402010,"G","A","DeNovo",".",".","14q11.2","exonic","CHD8",57680,".","stopgain","CHD8:NM_001170629:exon19:c.C4009T:p.R1337X,CHD8:NM_020920:exon20:c.C3172T:p.R1058X",".","ID=COSM1587313,COSM954433;OCCURENCE=1(endometrium)","rs397514552",".",".",".",".",".",".",".",".",".","other","Autism\\x2c_susceptibility_to\\x2c_18","RCV000032830.3","MedGen:OMIM","C3554373:615032",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",13.034,40,0.998,0.961,"D",".",".",".",".",0.707,0,5.27,0.917,1.045,0.988,1,15.845,"FamilyBased",".","ASD","WES",".","."]
[7607,25363768,14,21403019,21403019,"G","A","DeNovo",".",".","14q11.2","exonic","CHD8",57680,".","stopgain","CHD8:NM_001170629:exon17:c.C3712T:p.Q1238X,CHD8:NM_020920:exon18:c.C2875T:p.Q959X",".",".","rs397514551",".",".",".",".",".",".",".",".",".","other","Autism\\x2c_susceptibility_to\\x2c_18","RCV000032829.4","MedGen:OMIM","C3554373:615032",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",12.723,40,0.998,0.998,"D",".",".",".",".",0.707,0,5.33,0.917,1.045,0.998,1,17.948,"FamilyBased",".","ASD","WES",".","."]
[7608,25363768,14,21403214,21403214,"T","C","DeNovo",".",".","14q11.2","splicing","CHD8",57680,"NM_020920:exon18:c.2682-2A>G;NM_001170629:exon17:c.3519-2A>G",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",4.586,24.4,0.995,0.998,"D",".",".",".",".",0.099,0,5.32,0.991,1.058,0.73,0.909,14.401,"FamilyBased",".","ASD","WES",".","."]
[7615,25363768,14,22774371,22774371,"G","A","DeNovo",".",".","14q11.2","exonic","SLC7A7",9056,".","stopgain","SLC7A7:NM_001126105:exon9:c.C1228T:p.R410X,SLC7A7:NM_001126106:exon9:c.C1228T:p.R410X","Lysinuric protein intolerance, Autosomal recessive",".","rs121908678",{"v":1.65e-05,"d":"1.65E-05"},0,0,0,0,{"v":1.5E-5,"d":"1.50E-05"},0,{"v":6.06e-05,"d":"6.06E-05"},".","Pathogenic","Lysinuric_protein_intolerance","RCV000006590.4","MedGen:OMIM:Orphanet:SNOMED_CT","C0268647:222700:ORPHA470:303852004",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",10.891,37,0.992,0.735,"D",".",".",".",".",0.672,0,-0.802,0.917,0.108,0.622,0.98,3.711,"FamilyBased",".","ASD","WES",".","."]
[7640,25363768,14,31144125,31144125,"G","GT","DeNovo",".",".","14q12","exonic","HECTD1",25831,".","frameshift substitution","HECTD1:NM_015382:exon17:c.2764delinsAC:p.V923Cfs*5",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WES",".","."]
[7642,25363768,14,32092131,32092131,"G","T","DeNovo",".",".","14q12","exonic","ARHGAP5",394,".","stopgain","ARHGAP5:NM_001030055:exon2:c.G1462T:p.E488X,ARHGAP5:NM_001173:exon2:c.G1462T:p.E488X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",12.719,40,0.997,0.994,"D",".",".",".",".",0.707,0,6.02,0.917,1.048,1,1,20.547,"FamilyBased",".","ASD","WES",".","."]
[7673,25363768,14,67340456,67340456,"G","A","DeNovo",".",".","14q23.3","exonic","ATP6V1D",51382,".","stopgain","ATP6V1D:NM_015994:exon8:c.C586T:p.R196X",".",".","rs762351423",{"v":8.27e-06,"d":"8.27E-06"},0,{"v":8.67e-05,"d":"8.67E-05"},0,0,0,0,0,".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",".",".",".",".",".",".",".",12.533,39,0.991,0.94,"D",".",".",".",".",0.732,0,3.33,0.917,-0.29,0.999,0.996,9.766,"FamilyBased",".","ASD","WES",".","."]
[7702,25363768,14,75902161,75902161,"C","T","DeNovo",".",".","14q24.3","exonic","TTLL5",23093,".","stopgain","TTLL5:NM_015072:exon31:c.C3760T:p.Q1254X","Cone-rod dystrophy 19, Autosomal recessive",".","rs140018292",{"v":1.65e-05,"d":"1.65E-05"},0,0,0,0,{"v":3e-05,"d":"3.00E-05"},0,0,".",".",".",".",".",".",".",".",".",".",".",".",0.891,"N",1,"A",".",".",".",".",".",".",".",14.804,47,0.997,0.848,"D",".",".",".",".",0.737,0,5.43,0.871,0.935,0.965,0.989,14.758,"FamilyBased",".","ASD","WES",".","."]
[7708,25363768,14,77427630,77427630,"G","A","DeNovo",".",".","14q24.3","exonic","VIPAS39",63894,".","stopgain","VIPAS39:NM_001193316:exon19:c.C1321T:p.R441X,VIPAS39:NM_001193314:exon20:c.C1468T:p.R490X,VIPAS39:NM_001193315:exon20:c.C1468T:p.R490X,VIPAS39:NM_001193317:exon20:c.C1468T:p.R490X,VIPAS39:NM_022067:exon21:c.C1468T:p.R490X","Arthrogryposis, renal dysfunction, and cholestasis 2, Autosomal recessive","ID=COSM958165;OCCURENCE=1(endometrium)","rs777254676",{"v":8.24e-06,"d":"8.24E-06"},{"v":9.62e-05,"d":"9.62E-05"},0,0,0,0,0,0,".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",".",".",".",".",".",".",".",15.436,51,0.998,0.992,"D",".",".",".",".",0.707,0,5.46,0.83,1.045,1,1,16.561,"FamilyBased",".","ASD","WES",".","."]
[7717,25363768,14,92819837,92819837,"G","C","DeNovo",".",".","14q32.12","splicing","GOLGA5",9950,"NM_005113:exon8:c.1620+1G>C",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",4.845,24.8,0.995,0.99,"D",".",".",".",".",0.295,0,4.97,0.917,0.998,0.572,0.724,18.227,"FamilyBased",".","ASD","WES",".","."]
[7742,25363768,14,102968309,102968309,"G","A","DeNovo",".",".","14q32.32","exonic","CDC42BPB",9578,".","stopgain","CDC42BPB:NM_006035:exon16:c.C2290T:p.R764X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",10.266,36,0.997,0.975,"D",".",".",".",".",0.707,0,3.51,-0.045,1.048,0.285,0.011,14.259,"FamilyBased",".","ASD","WES",".","."]
[7804,25363768,15,40771022,40771022,"A","T","DeNovo",".",".","15q15.1","exonic","C15orf62",643338,".","stoploss","C15orf62:NM_001130448:exon1:c.A527T:p.X176L",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",1.936,15.81,0.73,0.841,"D",".",".",".",".",0.106,0,4.14,-0.016,0.12,0.03,0.522,7.57,"FamilyBased",".","ASD","WES",".","."]
[7811,25363768,15,41536650,41536650,"C","A","DeNovo",".",".","15q15.1","splicing","RPAP1",26015,"NM_015540:exon3:c.182-1G>T",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",5.337,25.8,0.99,0.992,"D",".",".",".",".",0.295,0,4.93,0.871,0.881,0.829,0.931,13.873,"FamilyBased",".","ASD","WES",".","."]
[7817,25363768,15,42675738,42675738,"C","T","DeNovo",".",".","15q15.2","exonic","STARD9",57519,".","stopgain","STARD9:NM_020759:exon19:c.C1762T:p.R588X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"A",".",".",".",".",".",".",".",10.609,36,0.993,0.785,"D",".",".",".",".",0.554,0,0.92,-1.71,0.036,0.233,0.555,4.239,"FamilyBased",".","ASD","WES",".","."]
[7854,25363768,15,55359693,55359693,"G","A","DeNovo",".",".","15q21.3","exonic","CCPG1",9236,".","stopgain","CCPG1:NM_001204450:exon8:c.C2080T:p.Q694X,CCPG1:NM_004748:exon8:c.C2080T:p.Q694X,CCPG1:NM_020739:exon8:c.C2080T:p.Q694X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",12.251,39,0.997,0.988,"D",".",".",".",".",0.732,0,4.9,0.917,1.048,0.996,1,15.35,"FamilyBased",".","ASD","WES",".","."]
[7864,25363768,15,59138285,59138285,"G","A","DeNovo",".",".","15q22.2","exonic","MYO1E",4643,".","stopgain","MYO1E:NM_004998:exon27:c.C3163T:p.Q1055X","Glomerulosclerosis, focal segmental, 6, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",14.697,47,0.998,0.991,"D",".",".",".",".",0.742,0,5.7,0.917,0.998,1,1,19.836,"FamilyBased",".","ASD","WES",".","."]
[7890,25363768,15,66546610,66546610,"T","TG","DeNovo",".",".","15q22.31","exonic","ZWILCH",55055,".","frameshift substitution","ZWILCH:NM_001287822:exon17:c.1365delinsTG:p.N456Efs*3,ZWILCH:NM_001287823:exon17:c.1365delinsTG:p.N456Efs*3,ZWILCH:NM_001287821:exon18:c.1365delinsTG:p.N456Efs*3,ZWILCH:NM_017975:exon18:c.1707delinsTG:p.N570Efs*3",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WES",".","."]
[7902,25363768,15,72168958,72168958,"C","CT","DeNovo",".",".","15q23","exonic","GRAMD2A",196996,".","frameshift substitution","GRAMD2A:NM_001012642:exon3:c.173delinsAG:p.K59Efs*11",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WES",".","."]
[7951,25363768,15,93020014,93020014,"C","T","DeNovo",".",".","15q26.1","exonic","CHD2",1106,".","stopgain","CHD2:NM_001271:exon38:c.C4909T:p.R1637X","Epileptic encephalopathy, childhood-onset, Autosomal dominant",".","rs864309547",".",".",".",".",".",".",".",".",".","Pathogenic","Epileptic_encephalopathy\\x2c_childhood-onset","RCV000202631.1","MedGen:OMIM","C3809278:615369",".",".",".",".",".",".",0.02,"U",1,"A",".",".",".",".",".",".",".",14.914,48,0.997,0.901,"D",".",".",".",".",0.707,0,4.57,-0.058,0.852,0.992,0.998,15.718,"FamilyBased",".","ASD","WES",".","."]
[7952,25363768,15,93020053,93020053,"T","TG","DeNovo",".",".","15q26.1","exonic","CHD2",1106,".","frameshift substitution","CHD2:NM_001271:exon38:c.4948delinsTG:p.G1650Wfs*17","Epileptic encephalopathy, childhood-onset, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WES",".","."]
[7965,25363768,15,101443587,101443587,"G","GCC","DeNovo",".",".","15q26.3","exonic","PCSK6",5046,".","frameshift substitution","PCSK6:NM_001291309:exon2:c.371delinsGGC:p.H126Lfs*11,PCSK6:NM_002570:exon2:c.371delinsGGC:p.H126Lfs*11,PCSK6:NM_138319:exon2:c.371delinsGGC:p.H126Lfs*11,PCSK6:NM_138322:exon2:c.371delinsGGC:p.H126Lfs*11,PCSK6:NM_138323:exon2:c.371delinsGGC:p.H126Lfs*11,PCSK6:NM_138324:exon2:c.371delinsGGC:p.H126Lfs*11,PCSK6:NM_138325:exon2:c.371delinsGGC:p.H126Lfs*11",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WES",".","."]
[7974,25363768,16,635776,635776,"T","G","DeNovo",".",".","16p13.3","splicing","METTL26",84326,"NM_032366:exon2:c.198-2A>C;NM_001288710:exon2:c.198-2A>C;NM_001040165:exon2:c.198-2A>C;NM_001040160:exon2:c.198-2A>C",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",3.377,22.9,0.976,0.885,"D",".",".",".",".",0.09,0,4.5,0.991,0.959,0.831,0.14,7.881,"FamilyBased",".","ASD","WES",".","."]
[8000,25363768,16,2001647,2001647,"G","A","DeNovo",".",".","16p13.3","exonic","ZNF598",90850,".","stopgain","ZNF598:NM_178167:exon8:c.C949T:p.R317X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",11.274,37,0.998,0.819,"D",".",".",".",".",0.672,0,5.15,0.917,0.813,0.788,0.779,11.484,"FamilyBased",".","ASD","WES",".","."]
[8053,25363768,16,20806406,20806406,"A","G","DeNovo",".",".","16p12.3","splicing","ERI2",112479,"NM_080663:exon1:c.23+2T>C;NM_001142725:exon1:c.23+2T>C",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",3.721,23.3,0.929,0.629,"D",".",".",".",".",0.047,1,3.44,0.722,0.237,0.137,0.481,8.171,"FamilyBased",".","ASD","WES",".","."]
[8072,25363768,16,28866612,28866612,"C","CG","DeNovo",".",".","16p11.2","exonic","SH2B1",25970,".","frameshift substitution","SH2B1:NM_015503:exon1:c.518delinsCG:p.R173Pfs*5,SH2B1:NM_001145795:exon2:c.518delinsCG:p.R173Pfs*5,SH2B1:NM_001145796:exon2:c.518delinsCG:p.R173Pfs*5,SH2B1:NM_001145797:exon2:c.518delinsCG:p.R173Pfs*5,SH2B1:NM_001145812:exon2:c.518delinsCG:p.R173Pfs*5,SH2B1:NM_001308293:exon4:c.518delinsCG:p.R173Pfs*5",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WES",".","."]
[8148,25363768,16,67616846,67616846,"C","CA","DeNovo",".",".","16q22.1","exonic","CTCF",10664,".","frameshift substitution","CTCF:NM_001191022:exon3:c.70delinsCA:p.K24Qfs*57,CTCF:NM_006565:exon5:c.1054delinsCA:p.K352Qfs*57","Mental retardation, autosomal dominant 21, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WES",".","."]
[8160,25363768,16,69370481,69370481,"A","G","DeNovo",".",".","16q22.1","splicing","TERF2",7014,"NM_005652:exon5:c.840+2T>C",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.954,"P",0.932,"D",".",".",1,"D",".",".",".",".",".",".",0.403,4.56,24.4,0.99,0.958,"D",".",".",".",".",0.563,0,5.33,1.062,1.082,0.911,0.957,11.724,"FamilyBased",".","ASD","WES",".","."]
[8173,25363768,16,72797825,72797825,"G","GT","DeNovo",".",".","16q22.2","exonic","ZFHX3",463,".","frameshift substitution","ZFHX3:NM_001164766:exon8:c.2115delinsAC:p.H706Pfs*42,ZFHX3:NM_006885:exon9:c.4857delinsAC:p.H1620Pfs*42",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WES",".","."]
[8187,25363768,16,81022785,81022785,"C","T","DeNovo",".",".","16q23.2","exonic","CENPN",55839,".","stopgain","CENPN:NM_018455:exon7:c.C562T:p.R188X",".",".","rs760201501",{"v":2.48E-5,"d":"2.48E-05"},0,{"v":8.65e-05,"d":"8.65E-05"},0,0,{"v":3.01E-5,"d":"3.01E-05"},0,0,".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"N",".",".",".",".",".",".",".",-0.062,2.028,0.867,0.015,"N",".",".",".",".",0.732,0,0.331,-2.014,-3.535,0.063,0,7.502,"FamilyBased",".","ASD","WES",".","."]
[8247,25363768,17,3688011,3688011,"C","T","DeNovo",".",".","17p13.2","splicing","P2RX5",5026,"NM_002561:exon9:c.981+1G>A;NM_001204520:exon8:c.909+1G>A;NM_001204519:exon9:c.978+1G>A;NM_175080:exon8:c.906+1G>A",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",5.2,25.5,0.994,0.979,"D",".",".",".",".",0.184,0,4.91,0.871,0.935,0.743,0.939,17.465,"FamilyBased",".","ASD","WES",".","."]
[8288,25363768,17,7845870,7845870,"A","G","DeNovo",".",".","17p13.1","splicing","KDM6B",23135,"NM_001348716:exon5:c.138-2A>G;NM_001080424:exon5:c.138-2A>G",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",3.52,23.1,0.99,0.94,"D",".",".",".",".",0.097,0,3.68,0.722,1.183,0.764,0.644,10.952,"FamilyBased",".","ASD","WES",".","."]
[8296,25363768,17,8487432,8487432,"C","T","DeNovo",".",".","17p13.1","splicing","MYH10",4628,"NM_001256095:exon35:c.4980+1G>A;NM_001256012:exon36:c.5046+1G>A;NM_005964:exon34:c.4953+1G>A",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",5.38,25.9,0.995,0.994,"D",".",".",".",".",0.257,0,4.96,0.871,0.892,0.98,0.787,18.75,"FamilyBased",".","ASD","WES",".","."]
[8304,25363768,17,10528782,10528782,"G","A","DeNovo",".",".","17p13.1","exonic","MYH2",4620,".","stopgain","MYH2:NM_001100112:exon27:c.C3652T:p.R1218X,MYH2:NM_017534:exon27:c.C3652T:p.R1218X","Proximal myopathy and ophthalmoplegia, Autosomal recessive, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",2E-3,"U",1,"A",".",".",".",".",".",".",".",11.064,37,0.996,0.798,"D",".",".",".",".",0.633,0,0.282,-0.659,-0.964,0.993,0.923,15.586,"FamilyBased",".","ASD","WES",".","."]
[8341,25363768,17,28634027,28634027,"G","A","DeNovo",".",".","17q11.2","exonic","KIAA0100",9703,".","stopgain","KIAA0100:NM_001321560:exon17:c.C3130T:p.R1044X,KIAA0100:NM_014680:exon17:c.C3130T:p.R1044X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",10.558,36,0.998,0.925,"D",".",".",".",".",0.722,0,3.3,0.913,1.027,0.998,1,13.223,"FamilyBased",".","ASD","WES",".","."]
[8343,25363768,17,29054572,29054572,"C","T","DeNovo",".",".","17q11.2","exonic","PIPOX",51268,".","stopgain","PIPOX:NM_016518:exon5:c.C688T:p.R230X",".",".","rs376529005",{"v":1.65e-05,"d":"1.65E-05"},0.0002,0,0,0,0,0,0,".",".",".",".",".",".",".",".",".",".",".",".",0.14,"N",1,"A",".",".",".",".",".",".",".",10.538,36,0.996,0.161,"N",".",".",".",".",0.635,0,0.867,-0.058,0.935,0.993,0.996,8.881,"FamilyBased",".","ASD","WES",".","."]
[8344,25363768,17,29110435,29110435,"C","A","DeNovo",".",".","17q11.2","splicing","MYO18A",399687,"NM_203318:exon18:c.3087+1G>T;NM_078471:exon18:c.3087+1G>T;NM_001346768:exon18:c.1713+1G>T;NM_001346765:exon20:c.3144+1G>T;NM_001346766:exon19:c.3123+1G>T;NM_001346767:exon18:c.3087+1G>T",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",6.047,28,0.995,0.998,"D",".",".",".",".",0.295,0,5.84,0.824,0.935,0.914,0.933,19.723,"FamilyBased",".","ASD","WES",".","."]
[8346,25363768,17,30443906,30443906,"C","G","DeNovo",".",".","17q11.2","exonic","CPD",1362,".","stopgain","CPD:NM_001199775:exon11:c.C1737G:p.Y579X,CPD:NM_001304:exon11:c.C2478G:p.Y826X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.017,"N",1,"A",".",".",".",".",".",".",".",11.912,38,0.997,0.966,"D",".",".",".",".",0.732,0,4.65,0.871,0.892,0.996,1,11.676,"FamilyBased",".","ASD","WES",".","."]
[8349,25363768,17,31232834,31232834,"C","G","DeNovo",".",".","17q11.2","exonic","NF1",4763,".","stopgain","NF1:NM_000267:exon26:c.C3449G:p.S1150X,NF1:NM_001042492:exon26:c.C3449G:p.S1150X","Leukemia, juvenile myelomonocytic, Autosomal dominant, Somatic mutation;Neurofibromatosis, familial spinal, Autosomal dominant;Neurofibromatosis, type 1, Autosomal dominant;Neurofibromatosis-Noonan syndrome, Autosomal dominant;Watson syndrome, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",11.416,37,0.996,0.992,"D",".",".",".",".",0.707,0,5.55,0.871,0.935,1,1,19.495,"FamilyBased",".","ASD","WES",".","."]
[8410,25363768,17,42987271,42987271,"C","T","DeNovo",".",".","17q21.31","exonic","RUNDC1",146923,".","stopgain","RUNDC1:NM_173079:exon2:c.C514T:p.Q172X,RUNDC1:NM_001321381:exon3:c.C520T:p.Q174X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.074,"N",1,"A",".",".",".",".",".",".",".",12.258,39,0.998,0.882,"D",".",".",".",".",0.722,0,5.37,0.871,0.848,0.948,0.98,12.866,"FamilyBased",".","ASD","WES",".","."]
[8411,25363768,17,43045759,43045759,"C","T","DeNovo",".",".","17q21.31","exonic","BRCA1",672,".","stopgain","BRCA1:NM_007297:exon22:c.G5370A:p.W1790X,BRCA1:NM_007298:exon22:c.G2199A:p.W733X,BRCA1:NM_007294:exon23:c.G5511A:p.W1837X,BRCA1:NM_007300:exon24:c.G5574A:p.W1858X",".",".","rs80356914",".",".",".",".",".",".",".",".",".","not provided|Pathogenic","Familial_cancer_of_breast|Breast-ovarian_cancer\\x2c_familial_1","RCV000049029.2|RCV000112692.3","MedGen:OMIM:Orphanet:SNOMED_CT|MedGen:OMIM","C0346153:114480:ORPHA227535:254843006|C2676676:604370",".",".",".",".",".",".",0,"D",1,"D",".",".",".",".",".",".",".",15.184,49,0.991,0.912,"D",".",".",".",".",0.732,0,5.32,0.871,0.935,0.997,0.994,14.372,"FamilyBased",".","ASD","WES",".","."]
[8460,25363768,17,60663015,60663015,"G","A","DeNovo",".",".","17q23.2","exonic","PPM1D",8493,".","stopgain","PPM1D:NM_003620:exon6:c.G1281A:p.W427X","Breast cancer, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.005,"N",1,"D",".",".",".",".",".",".",".",12.173,38,0.996,0.984,"D",".",".",".",".",0.706,0,5.78,0.917,0.998,0.995,0.997,20.375,"FamilyBased",".","ASD","WES",".","."]
[8467,25363768,17,63405208,63405208,"C","T","DeNovo",".",".","17q23.3","exonic","TANC2",26115,".","stopgain","TANC2:NM_025185:exon18:c.C3196T:p.R1066X",".","ID=COSM1324919,COSM1324918;OCCURENCE=1(ovary)",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",13.178,41,0.998,0.934,"D",".",".",".",".",0.615,0,4.33,-0.022,0.02,0.982,0.997,14.845,"FamilyBased",".","ASD","WES",".","."]
[8478,25363768,17,64194995,64194995,"G","C","DeNovo",".",".","17q23.3","exonic","TEX2",55852,".","stopgain","TEX2:NM_001288732:exon3:c.C1745G:p.S582X,TEX2:NM_001288733:exon3:c.C1745G:p.S582X,TEX2:NM_018469:exon3:c.C1745G:p.S582X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",14.298,45,0.996,0.992,"D",".",".",".",".",0.706,0,6.07,0.917,1.048,1,1,20.659,"FamilyBased",".","ASD","WES",".","."]
[8485,25363768,17,67347395,67347395,"G","A","DeNovo",".",".","17q24.2","exonic","PSMD12",5718,".","stopgain","PSMD12:NM_174871:exon5:c.C541T:p.R181X,PSMD12:NM_002816:exon6:c.C601T:p.R201X,PSMD12:NM_001316341:exon8:c.C424T:p.R142X",".","ID=COSM4139763;OCCURENCE=1(ovary)",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",13.527,42,0.998,0.994,"D",".",".",".",".",0.707,0,5.92,0.917,0.998,0.999,0.996,20.315,"FamilyBased",".","ASD","WES",".","."]
[8516,25363768,17,79835251,79835251,"G","A","DeNovo",".",".","17q25.3","exonic","CBX4",8535,".","stopgain","CBX4:NM_003655:exon5:c.C391T:p.Q131X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"U",1,"D",".",".",".",".",".",".",".",9.923,36,0.998,0.978,"D",".",".",".",".",0.632,0,4.16,0.917,0.993,0.997,1,16.492,"FamilyBased",".","ASD","WES",".","."]
[8520,25363768,17,80379716,80379716,"T","C","DeNovo",".",".","17q25.3","splicing","RNF213",57674,"NM_001256071:exon55:c.13640+2T>C",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",2.888,21.8,0.913,0.763,"D",".",".",".",".",0.257,0,5.37,0.991,1.061,0.059,0.003,13.969,"FamilyBased",".","ASD","WES",".","."]
[8532,25363768,17,82244801,82244801,"G","A","DeNovo",".",".","17q25.3","exonic","CSNK1D",1453,".","stopgain","CSNK1D:NM_001893:exon9:c.C1228T:p.Q410X","Advanced sleep-phase syndrome, familial, 2, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.311,"N",1,"D",".",".",".",".",".",".",".",13.238,41,0.997,0.994,"D",".",".",".",".",0.672,0,5.51,0.917,1.048,1,1,18.404,"FamilyBased",".","ASD","WES",".","."]
[8538,25363768,17,82830142,82830142,"T","G","DeNovo",".",".","17q25.3","exonic","ZNF750",79755,".","stoploss","ZNF750:NM_024702:exon3:c.A2172C:p.X724Y","Seborrhea-like dermatitis with psoriasiform elements",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"N",".",".",".",".",".",".",".",1.344,12.5,0.666,0.822,"D",".",".",".",".",0.106,0,3.68,0.046,0.049,0.061,2E-3,5.62,"FamilyBased",".","ASD","WES",".","."]
[8546,25363768,18,5398077,5398077,"G","A","DeNovo",".",".","18p11.31","exonic","EPB41L3",23136,".","stopgain","EPB41L3:NM_001281533:exon16:c.C1909T:p.R637X,EPB41L3:NM_001330557:exon16:c.C1909T:p.R637X,EPB41L3:NM_012307:exon17:c.C2416T:p.R806X",".","ID=COSM1303780;OCCURENCE=1(urinary_tract)","rs781377051",{"v":8.3e-06,"d":"8.30E-06"},0,0,0,0,{"v":1.51e-05,"d":"1.51E-05"},0,0,".",".",".",".",".",".",".",".",".",".",".",".",0.005,"N",1,"A",".",".",".",".",".",".",".",11.013,37,0.998,0.756,"D",".",".",".",".",0.563,0,2.8,-1.36,0.097,0.951,0.914,15.801,"FamilyBased",".","ASD","WES",".","."]
[8574,25363768,18,31475820,31475820,"T","TA","DeNovo",".",".","18q12.1","exonic","DSG3",1830,".","frameshift substitution","DSG3:NM_001944:exon16:c.2560delinsTA:p.K854*",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WES",".","."]
[8588,25363768,18,44952058,44952058,"C","CG","DeNovo",".",".","18q12.3","exonic","SETBP1",26040,".","frameshift substitution","SETBP1:NM_015559:exon4:c.2718delinsCG:p.S907Vfs*44","Mental retardation, autosomal dominant 29, Autosomal dominant;Schinzel-Giedion midface retraction syndrome, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WES",".","."]
[8590,25363768,18,47063362,47063362,"G","A","DeNovo",".",".","18q21.1","splicing","KATNAL2",83473,"NM_031303:exon7:c.510+1G>A",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",5.17,25.5,0.995,0.998,"D",".",".",".",".",0.075,0,6.02,0.917,1.048,1,1,20.151,"FamilyBased",".","ASD","WES",".","."]
[8591,25363768,18,47077462,47077462,"G","C","DeNovo",".",".","18q21.1","splicing","KATNAL2",83473,"NM_031303:exon12:c.995+1G>C",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",-3.38,"D",".",".",".",4.575,24.4,0.994,0.998,"D",".",".",".",".",0.706,0,5.83,0.917,1.048,0.999,0.97,20.121,"FamilyBased",".","ASD","WES",".","."]
[8616,25363768,18,74920513,74920513,"G","A","DeNovo",".",".","18q22.3","splicing","ZNF407",55628,"NM_017757:exon7:c.5250-1G>A;NM_001146189:exon7:c.5250-1G>A",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",4.357,24.1,0.993,0.978,"D",".",".",".",".",0.162,0,4.68,0.917,1.048,0.997,0.913,14.341,"FamilyBased",".","ASD","WES",".","."]
[8629,25363768,19,630058,630058,"G","A","DeNovo",".",".","19p13.3","exonic","POLRMT",5442,".","stopgain","POLRMT:NM_005035:exon3:c.C304T:p.Q102X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.193,"N",1,"A",".",".",".",".",".",".",".",4.707,24.6,0.995,0.105,"N",".",".",".",".",0.732,0,1.03,0.589,0.579,0.003,0.009,5.847,"FamilyBased",".","ASD","WES",".","."]
[8643,25363768,19,1818481,1818481,"C","T","DeNovo",".",".","19p13.3","splicing","REXO1",57455,"NM_020695:exon10:c.3016+1G>A",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",4.471,24.2,0.994,0.993,"D",".",".",".",".",0.116,0,4.35,0.871,0.87,0.421,0.959,16.039,"FamilyBased",".","ASD","WES",".","."]
[8650,25363768,19,2214495,2214495,"C","T","DeNovo",".",".","19p13.3","exonic","DOT1L",84444,".","stopgain","DOT1L:NM_032482:exon19:c.C1822T:p.Q608X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",9.638,36,0.996,0.823,"D",".",".",".",".",0.707,0,0.073,0.067,0.106,0.992,0.996,7.945,"FamilyBased",".","ASD","WES",".","."]
[8674,25363768,19,4362622,4362622,"T","TG","DeNovo",".",".","19p13.3","exonic","SH3GL1",6455,".","frameshift substitution","SH3GL1:NM_001199943:exon7:c.699delinsCA:p.I235Dfs*18,SH3GL1:NM_001199944:exon8:c.651delinsCA:p.I219Dfs*18,SH3GL1:NM_003025:exon8:c.843delinsCA:p.I283Dfs*18","Leukemia, acute myeloid, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WES",".","."]
[8715,25363768,19,8255880,8255880,"G","A","DeNovo",".",".","19p13.2","splicing","CERS4",79603,"NM_024552:exon6:c.468+1G>A",".",".",".","ID=COSM1527455;OCCURENCE=1(lung)","rs560901451",{"v":8.25e-06,"d":"8.25E-06"},{"v":9.64e-05,"d":"9.64E-05"},0,0,0,0,0,0,1.99681E-4,".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",3.758,23.3,0.989,0.989,"D",".",".",".",".",0.257,0,4.23,0.697,0.722,0.119,0.05,12.095,"FamilyBased",".","ASD","WES",".","."]
[8733,25363768,19,9980805,9980805,"C","T","DeNovo",".",".","19p13.2","splicing","COL5A3",50509,"NM_015719:exon34:c.2559+1G>A",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",5.144,25.4,0.994,0.989,"D",".",".",".",".",0.081,0,4.37,0.871,0.807,0.999,0.998,14.44,"FamilyBased",".","ASD","WES",".","."]
[8762,25363768,19,12580938,12580938,"G","GCACTTCA","DeNovo",".",".","19p13.2","exonic","ZNF490",57474,".","frameshift substitution","ZNF490:NM_020714:exon5:c.1137delinsTGAAGTGC:p.H380Efs*14",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WES",".","."]
[8768,25363768,19,13136155,13136155,"T","C","DeNovo",".",".","19p13.13","splicing","NACC1",112939,"NM_052876:exon2:c.946+2T>C",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",3.225,22.8,0.99,0.959,"D",".",".",".",".",0.257,0,4.76,0.991,0.8,0.995,0.876,12.256,"FamilyBased",".","ASD","WES",".","."]
[8773,25363768,19,13920833,13920833,"G","T","DeNovo",".",".","19p13.12","exonic","CC2D1A",54862,".","stopgain","CC2D1A:NM_017721:exon14:c.G1552T:p.E518X","Mental retardation, autosomal recessive 3, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1E-3,"D",1,"A",".",".",".",".",".",".",".",13.443,42,0.998,0.986,"D",".",".",".",".",0.707,0,5.49,0.917,1.048,0.793,0.075,18.13,"FamilyBased",".","ASD","WES",".","."]
[8797,25363768,19,17405289,17405289,"A","G","DeNovo",".",".","19p13.11","splicing","BST2",684,"NM_004335:exon1:c.285+2T>C",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",1.76,14.75,0.779,0.854,"D",".",".",".",".",0.09,0,1.71,0.722,1.14,0.454,0.519,5.804,"FamilyBased",".","ASD","WES",".","."]
[8800,25363768,19,18177761,18177761,"C","G","DeNovo",".",".","19p13.11","exonic","IFI30",10437,".","stopgain","IFI30:NM_006332:exon6:c.C687G:p.Y229X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",10.766,36,0.994,0.836,"D",".",".",".",".",0.646,0,2.8,0.871,0.739,0.959,0.954,8.692,"FamilyBased",".","ASD","WES",".","."]
[8831,25363768,19,36103511,36103511,"A","ATATC","DeNovo",".",".","19q13.12","exonic","WDR62",284403,".","frameshift substitution","WDR62:NM_001083961:exon30:c.3683delinsATATC:p.I1228Nfs*10,WDR62:NM_173636:exon30:c.3668delinsATATC:p.I1223Nfs*10","Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WES",".","."]
[8891,25363768,19,42287864,42287864,"C","T","DeNovo",".",".","19q13.2","exonic","CIC",23152,".","stopgain","CIC:NM_015125:exon6:c.C820T:p.R274X,CIC:NM_001304815:exon7:c.C3547T:p.R1183X",".","ID=COSM236388;OCCURENCE=1(autonomic_ganglia),1(oesophagus)",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"A",".",".",".",".",".",".",".",8.73,35,0.996,0.759,"D",".",".",".",".",0.707,0,1.23,-0.048,-0.432,0.998,0.987,6.431,"FamilyBased",".","ASD","WES",".","."]
[8936,25363768,19,48297503,48297503,"G","A","DeNovo",".",".","19q13.33","exonic","CCDC114",93233,".","stopgain","CCDC114:NM_144577:exon14:c.C1486T:p.Q496X","Ciliary dyskinesia, primary, 20, Autosomal recessive",".","rs764664376",{"v":1.14e-05,"d":"1.14E-05"},0,1E-4,0,0,0,0,0,".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",9.318,35,0.99,0.218,"N",".",".",".",".",0.696,0,1.36,-0.293,-0.027,1E-3,0.013,6.326,"FamilyBased",".","ASD","WES",".","."]
[8938,25363768,19,48501524,48501524,"C","CAGGTCAG","DeNovo",".",".","19q13.33","exonic","LMTK3",114783,".","frameshift substitution","LMTK3:NM_001080434:exon9:c.920delinsCTGACCTG:p.L307Pfs*70",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WES",".","."]
[8942,25363768,19,48744452,48744452,"C","T","DeNovo",".",".","19q13.33","splicing","IZUMO1",284359,"NM_001321865:exon3:UTR5;NM_001321864:exon3:c.58+1G>A;NM_182575:exon4:c.397+1G>A",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",4.345,24.1,0.994,0.905,"D",".",".",".",".",0.078,0,5.21,0.598,0.935,0.614,0.849,14.628,"FamilyBased",".","ASD","WES",".","."]
[8956,25363768,19,51345261,51345261,"C","A","DeNovo",".",".","19q13.41","exonic","ETFB",2109,".","stopgain","ETFB:NM_001014763:exon5:c.G991T:p.E331X,ETFB:NM_001985:exon6:c.G718T:p.E240X","Glutaric acidemia IIB, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",".",".",".",".",".",".",".",13.754,43,0.997,0.934,"D",".",".",".",".",0.722,0,4.2,0.598,0.841,0.228,0.834,14.855,"FamilyBased",".","ASD","WES",".","."]
[8963,25363768,19,52849215,52849215,"T","C","DeNovo",".",".","19q13.41","splicing","ZNF468",90333,"NM_001277120:exon3:c.16-2A>G;NM_001008801:exon3:c.16-2A>G",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",0.5,7.427,0.767,0.703,"D",".",".",".",".",0.156,0,2.21,0.732,0.63,0.354,0.006,6.571,"FamilyBased",".","ASD","WES",".","."]
[8983,25363768,19,54930662,54930662,"G","A","DeNovo",".",".","19q13.42","exonic","NLRP7",199713,".","stopgain","NLRP7:NM_001127255:exon9:c.C2647T:p.Q883X,NLRP7:NM_139176:exon9:c.C2563T:p.Q855X,NLRP7:NM_206828:exon9:c.C2647T:p.Q883X","Hydatidiform mole, recurrent, 1, Autosomal recessive",".","rs755890731",{"v":8.24e-06,"d":"8.24E-06"},0,0,0,0,0,0,{"v":6.06e-05,"d":"6.06E-05"},".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"A",".",".",".",".",".",".",".",9.059,35,0.956,0,"N",".",".",".",".",0.638,0,0.794,-0.297,-0.016,0.029,0.011,2.698,"FamilyBased",".","ASD","WES",".","."]
[9004,25363768,20,353437,353437,"A","G","DeNovo",".",".","20p13","exonic;splicing","NRSN2;NRSN2","80023;80023","NM_001323679:exon6:c.287-2A>G","nonsynonymous SNV","NRSN2:NM_001323680:exon4:c.A417G:p.I139M,NRSN2:NM_001323681:exon4:c.A417G:p.I139M,NRSN2:NM_001323685:exon4:c.A417G:p.I139M,NRSN2:NM_024958:exon4:c.A417G:p.I139M,NRSN2:NM_001323682:exon5:c.A417G:p.I139M,NRSN2:NM_001323683:exon5:c.A417G:p.I139M,NRSN2:NM_001323684:exon5:c.A417G:p.I139M",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.238,"T",0,"B",0,"B",0.207,"N",1,"N",-0.69,"N",2.3,"T",0.21,"N",0.129,-2.326,1E-3,0.509,0.003,"N",-1.036,"T",0.009,"T",0.732,0,-9.32,-0.706,-1.569,0.004,0.013,1.128,"FamilyBased",".","ASD","WES",".","."]
[9006,25363768,20,1229895,1229895,"C","T","DeNovo",".",".","20p13","exonic","RAD21L1",642636,".","stopgain","RAD21L1:NM_001136566:exon3:c.C160T:p.R54X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.022,"N",1,"A",".",".",".",".",".",".",".",12.681,40,0.997,0.931,"D",".",".",".",".",0.497,0,5.16,0.871,0.892,0.998,1,14.531,"FamilyBased",".","ASD","WES",".","."]
[9013,25363768,20,3674828,3674828,"G","A","DeNovo",".",".","20p13","exonic","ADAM33",80332,".","stopgain","ADAM33:NM_001282447:exon5:c.C355T:p.R119X,ADAM33:NM_025220:exon5:c.C355T:p.R119X,ADAM33:NM_153202:exon5:c.C355T:p.R119X",".",".","rs201984188",{"v":7.75E-5,"d":"7.75E-05"},0,0,0,0,{"v":6.19E-5,"d":"6.19E-05"},0.0012,0.0003,1.99681E-4,".",".",".",".",".",".",".",".",".",".",".",".",".",1,"A",".",".",".",".",".",".",".",5.84,27.3,0.994,0.256,"N",".",".",".",".",0.646,0,-0.171,-0.021,-0.331,0.449,2E-3,4.529,"FamilyBased",".","ASD","WES",".","."]
[9035,25363768,20,20026783,20026783,"G","A","DeNovo",".",".","20p11.23","splicing","NAA20",51126,"NM_181528:exon4:c.170-1G>A;NM_016100:exon4:c.170-1G>A;NM_181527:exon4:c.134-1G>A",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",5.339,25.8,0.995,0.995,"D",".",".",".",".",0.295,0,5.13,0.917,1.048,1,1,15.491,"FamilyBased",".","ASD","WES",".","."]
[9045,25363768,20,25479173,25479173,"T","A","DeNovo",".",".","20p11.21","exonic","NINL",22981,".","stopgain","NINL:NM_001318226:exon16:c.A1951T:p.K651X,NINL:NM_025176:exon16:c.A1951T:p.K651X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.012,"N",1,"A",".",".",".",".",".",".",".",8.821,35,0.992,0.849,"D",".",".",".",".",0.696,0,3.8,0.97,1.061,0.725,0.092,11.056,"FamilyBased",".","ASD","WES",".","."]
[9097,25363768,20,46386122,46386122,"C","CA","DeNovo",".",".","20q13.12","splicing","ELMO2",63916,"NM_001318253:exon9:c.413+2G>TG;NM_133171:exon9:c.677+2G>TG;NM_182764:exon8:c.677+2G>TG",".",".","Vascular malformation, primary intraosseous, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WES",".","."]
[9105,25363768,20,50892558,50892558,"G","GT","DeNovo",".",".","20q13.13","exonic","ADNP",23394,".","frameshift substitution","ADNP:NM_001282532:exon4:c.2156delinsAC:p.E720Rfs*15,ADNP:NM_181442:exon4:c.2156delinsAC:p.E720Rfs*15,ADNP:NM_001347511:exon5:c.2156delinsAC:p.E720Rfs*15,ADNP:NM_015339:exon5:c.2156delinsAC:p.E720Rfs*15,ADNP:NM_001282531:exon6:c.2156delinsAC:p.E720Rfs*15","Helsmoortel-van der Aa syndrome, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WES",".","."]
[9112,25363768,20,58221467,58221467,"G","A","DeNovo",".",".","20q13.32","exonic","ANKRD60",140731,".","stopgain","ANKRD60:NM_001304369:exon3:c.C598T:p.R200X",".",".","rs74675269",0.0025,0.018,0,0,0,0.0002,0.0039,0.0003,0.00459265,".",".",".",".",".",".",".",".",".",".",".",0.694,"N",1,"A",".",".",".",".",".",".",".",8.709,35,0.995,0.07,"N",".",".",".",".",0.447,0,1.59,-0.045,0.953,0.094,0.317,6.879,"FamilyBased",".","ASD","WES",".","."]
[9136,25363768,21,10605416,10605416,"C","A","DeNovo",".",".","21p11.2","splicing","TPTE",7179,"NM_001290224:exon19:c.1107-1C>A;NM_199261:exon24:c.1521-1C>A;NM_199259:exon23:c.1467-1C>A;NM_199260:exon22:c.1407-1C>A",".",".",".",".","rs12627379",0.0532,0.0992,0.1035,0.0823,0.0113,0.0213,0.0541,0.119,".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WES",".","."]
[9145,25363768,21,28946228,28946228,"C","A","DeNovo",".",".","21q21.3","exonic","LTN1",26046,".","stopgain","LTN1:NM_001320766:exon19:c.G3643T:p.G1215X,LTN1:NM_015565:exon20:c.G3685T:p.G1229X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.884,"N",1,"A",".",".",".",".",".",".",".",11.394,37,0.986,0.821,"D",".",".",".",".",0.732,0,3,-0.379,0.049,0.332,0.118,11.282,"FamilyBased",".","ASD","WES",".","."]
[9151,25363768,21,32385559,32385559,"G","A","DeNovo",".",".","21q22.11","exonic","URB1",9875,".","stopgain","URB1:NM_014825:exon2:c.C268T:p.R90X",".",".","rs772154689",{"v":4.41e-05,"d":"4.41E-05"},0,0,0,0,0,0,1E-4,".",".",".",".",".",".",".",".",".",".",".",".",0.025,"N",1,"A",".",".",".",".",".",".",".",11.124,37,0.997,0.686,"D",".",".",".",".",0.745,0,2.28,-0.045,1.048,0.97,1,9.267,"FamilyBased",".","ASD","WES",".","."]
[9164,25363768,21,37493164,37493164,"G","A","DeNovo",".",".","21q22.13","splicing","DYRK1A",1859,"NM_001396:exon8:c.1098+1G>A;NM_001347722:exon8:c.1071+1G>A;NM_001347723:exon7:c.984+1G>A;NM_001347721:exon8:c.1071+1G>A;NM_101395:exon9:c.1098+1G>A;NM_130436:exon7:c.1071+1G>A;NM_130438:exon7:c.1098+1G>A",".",".","Mental retardation, autosomal dominant 7, Autosomal dominant",".","rs587776930",".",".",".",".",".",".",".",".",".","Pathogenic","Mental_retardation\\x2c_autosomal_dominant_7","RCV000032823.3","MedGen:OMIM","C3279839:614104",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",5.928,27.6,0.996,0.99,"D",".",".",".",".",0.295,0,5.76,0.917,1.048,0.903,0.976,20.343,"FamilyBased",".","ASD","WES",".","."]
[9171,25363768,21,40042404,40042404,"A","AT","DeNovo",".",".","21q22.2","exonic","DSCAM",1826,".","frameshift substitution","DSCAM:NM_001271534:exon32:c.5653delinsAT:p.M1885Ifs*82,DSCAM:NM_001389:exon32:c.5653delinsAT:p.M1885Ifs*13",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WES",".","."]
[9172,25363768,21,40085600,40085600,"A","T","DeNovo",".",".","21q22.2","splicing","DSCAM",1826,"NM_001271534:exon23:c.4132+2T>A;NM_001389:exon23:c.4132+2T>A",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",4.413,24.1,0.995,0.998,"D",".",".",".",".",0.061,0,5.43,1.062,1.199,0.947,0.986,15.509,"FamilyBased",".","ASD","WES",".","."]
[9173,25363768,21,40085714,40085714,"T","TTA","DeNovo",".",".","21q22.2","exonic","DSCAM",1826,".","frameshift substitution","DSCAM:NM_001271534:exon23:c.4020delinsTAA:p.N1341Kfs*10,DSCAM:NM_001389:exon23:c.4020delinsTAA:p.N1341Kfs*10",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WES",".","."]
[9192,25363768,21,44323027,44323027,"C","CT","DeNovo",".",".","21q22.3","exonic","PFKL",5211,".","frameshift substitution","PFKL:NM_002626:exon15:c.1475delinsCT:p.L492Pfs*8,PFKL:NM_001002021:exon18:c.1625delinsCT:p.L542Pfs*8","Hemolytic anemia due to phosphofructokinase deficiency (1)",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WES",".","."]
[9193,25363768,21,44330909,44330909,"G","A","DeNovo",".",".","21q22.3","exonic","C21orf2",755,".","stopgain","C21orf2:NM_001271440:exon6:c.C553T:p.Q185X,C21orf2:NM_001271441:exon6:c.C553T:p.Q185X,C21orf2:NM_004928:exon6:c.C556T:p.Q186X,C21orf2:NM_001271442:exon7:c.C430T:p.Q144X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.025,"N",1,"A",".",".",".",".",".",".",".",7.554,34,0.993,0.196,"N",".",".",".",".",0.635,0,3.19,0.917,0.141,0.062,1E-3,8.23,"FamilyBased",".","ASD","WES",".","."]
[9198,25363768,21,45175952,45175952,"A","AT","DeNovo",".",".","21q22.3","exonic","ADARB1",104,".","frameshift substitution","ADARB1:NM_001346687:exon3:c.398delinsAT:p.M133Nfs*5,ADARB1:NM_001112:exon4:c.251delinsAT:p.M84Nfs*5,ADARB1:NM_001160230:exon4:c.251delinsAT:p.M84Nfs*5,ADARB1:NM_001346688:exon4:c.251delinsAT:p.M84Nfs*5,ADARB1:NM_015833:exon4:c.251delinsAT:p.M84Nfs*5,ADARB1:NM_015834:exon4:c.251delinsAT:p.M84Nfs*5",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WES",".","."]
[9203,25363768,21,46221881,46221881,"G","A","DeNovo",".",".","21q22.3","exonic","LSS",4047,".","stopgain","LSS:NM_001145437:exon4:c.C283T:p.R95X,LSS:NM_001001438:exon5:c.C523T:p.R175X,LSS:NM_001145436:exon5:c.C490T:p.R164X,LSS:NM_002340:exon5:c.C523T:p.R175X","Cataract 44, Autosomal recessive",".","rs758168273",{"v":2.47e-05,"d":"2.47E-05"},0,0,0,0,{"v":3e-05,"d":"3.00E-05"},0,{"v":6.06e-05,"d":"6.06E-05"},".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",11.97,38,0.998,0.947,"D",".",".",".",".",0.707,0,4.58,0.917,1.038,0.973,0.977,17.319,"FamilyBased",".","ASD","WES",".","."]
[9207,25363768,21,46537513,46537513,"G","A","DeNovo",".",".","21q22.3","exonic","DIP2A",23181,".","stopgain","DIP2A:NM_001146115:exon14:c.G1646A:p.W549X,DIP2A:NM_001146116:exon15:c.G1763A:p.W588X,DIP2A:NM_015151:exon15:c.G1775A:p.W592X,DIP2A:NM_206889:exon15:c.G1775A:p.W592X,DIP2A:NM_206890:exon15:c.G1775A:p.W592X,DIP2A:NM_206891:exon15:c.G1775A:p.W592X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",12.753,40,0.997,0.994,"D",".",".",".",".",0.732,0,5.44,0.917,0.998,0.99,0.993,18.239,"FamilyBased",".","ASD","WES",".","."]
[9208,25363768,21,46538517,46538517,"A","ACTGGTCT","DeNovo",".",".","21q22.3","exonic","DIP2A",23181,".","frameshift substitution","DIP2A:NM_001146115:exon15:c.1707delinsACTGGTCT:p.H569Qfs*38,DIP2A:NM_001146116:exon16:c.1824delinsACTGGTCT:p.H608Qfs*38,DIP2A:NM_015151:exon16:c.1836delinsACTGGTCT:p.H612Qfs*38,DIP2A:NM_206889:exon16:c.1836delinsACTGGTCT:p.H612Qfs*38,DIP2A:NM_206890:exon16:c.1836delinsACTGGTCT:p.H612Qfs*38,DIP2A:NM_206891:exon16:c.1836delinsACTGGTCT:p.H612Qfs*38",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WES",".","."]
[9214,25363768,22,19978041,19978041,"G","A","DeNovo",".",".","22q11.21","exonic","ARVCF",421,".","stopgain","ARVCF:NM_001670:exon8:c.C1615T:p.R539X",".",".","rs779111860",{"v":8.49E-6,"d":"8.49E-06"},0,0,1E-4,0,0,0,0,".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",12.468,39,0.999,0.53,"D",".",".",".",".",0.672,0,2.99,-0.045,0.953,0.83,1,11.494,"FamilyBased",".","ASD","WES",".","."]
[9221,25363768,22,20987530,20987530,"G","GT","DeNovo",".",".","22q11.21","exonic","LZTR1",8216,".","frameshift substitution","LZTR1:NM_006767:exon4:c.347delinsGT:p.A116Gfs*30","Noonan syndrome 10, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WES",".","."]
[9269,25363768,22,36191338,36191338,"G","A","DeNovo",".",".","22q12.3","exonic","APOL4",80832,".","stopgain","APOL4:NM_145660:exon5:c.C793T:p.R265X,APOL4:NM_030643:exon6:c.C784T:p.R262X",".",".","rs200035805",1E-4,0.0004,{"v":8.65e-05,"d":"8.65E-05"},0,0,{"v":4.5e-05,"d":"4.50E-05"},0,0.0006,1.99681E-4,".",".",".",".",".",".",".",".",".",".",".",0.584,"U",1,"N",".",".",".",".",".",".",".",6.196,28.7,0.914,0.005,"N",".",".",".",".",0.549,0,-3.88,-1.097,-1.084,0,0,1.521,"FamilyBased",".","ASD","WES",".","."]
[9290,25363768,22,40266709,40266709,"C","T","DeNovo",".",".","22q13.1","exonic","TNRC6B",23112,".","stopgain","TNRC6B:NM_001162501:exon5:c.C2479T:p.Q827X,TNRC6B:NM_015088:exon5:c.C2479T:p.Q827X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.07,"N",1,"A",".",".",".",".",".",".",".",10.97,37,0.997,0.993,"D",".",".",".",".",0.672,0,5.35,0.871,0.789,0.85,0.956,18.662,"FamilyBased",".","ASD","WES",".","."]
[9311,25363768,22,43976145,43976145,"C","T","DeNovo",".",".","22q13.31","exonic","SAMM50",25813,".","stopgain","SAMM50:NM_015380:exon8:c.C739T:p.R247X",".",".","rs756181628",{"v":1.65e-05,"d":"1.65E-05"},0,0,1E-4,0,0,0,{"v":6.06e-05,"d":"6.06E-05"},".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",11.836,38,0.998,0.923,"D",".",".",".",".",0.707,0,2.14,0.871,0.035,0.975,0.479,7.327,"FamilyBased",".","ASD","WES",".","."]
[9313,25363768,22,45976731,45976731,"C","T","DeNovo",".",".","22q13.31","exonic","WNT7B",7477,".","stopgain","WNT7B:NM_058238:exon1:c.G24A:p.W8X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.461,"U",1,"A",".",".",".",".",".",".",".",8.763,35,0.994,0.868,"D",".",".",".",".",0.598,0,3.21,0.849,0.796,1,1,11.524,"FamilyBased",".","ASD","WES",".","."]
[9335,25363768,"X",1202405,1202405,"C","T","DeNovo",".",".","Xp22.33","exonic","CRLF2",64109,".","stopgain","CRLF2:NM_001012288:exon3:c.G144A:p.W48X,CRLF2:NM_022148:exon4:c.G480A:p.W160X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"U",1,"A",".",".",".",".",".",".",".",9.499,35,0.991,0.242,"N",".",".",".",".",".",".",2.11,0.662,0.563,0.466,0.294,7.958,"FamilyBased",".","ASD","WES",".","."]
[9338,25363768,"X",1389485,1389485,"A","AG","DeNovo",".",".","Xp22.33","exonic","SLC25A6",293,".","frameshift substitution","SLC25A6:NM_001636:exon2:c.354delinsCT:p.S119Ffs*130",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WES",".","."]
[9352,25363768,"X",16654459,16654459,"G","T","DeNovo",".",".","Xp22.2","exonic","S100G",795,".","stopgain","S100G:NM_004057:exon3:c.G190T:p.E64X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1E-3,"D",1,"D",".",".",".",".",".",".",".",14.274,45,0.997,0.851,"D",".",".",".",".",".",".",5.57,0.917,1.044,1,1,14,"FamilyBased",".","ASD","WES",".","."]
[9358,25363768,"X",20175285,20175285,"G","C","DeNovo",".",".","Xp22.12","exonic","RPS6KA3",6197,".","stopgain","RPS6KA3:NM_004586:exon14:c.C1106G:p.S369X","Coffin-Lowry syndrome, X-linked dominant, Isolated cases;Mental retardation, X-linked 19, X-linked dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",13.294,41,0.997,0.995,"D",".",".",".",".",".",".",4.89,0.917,0.998,1,1,17.294,"FamilyBased",".","ASD","WES",".","."]
[9368,25363768,"X",41345402,41345402,"A","G","DeNovo",".",".","Xp11.4","splicing","DDX3X",1654,"NM_001356:exon12:c.1171-2A>G;NM_001193417:exon11:c.1123-2A>G;NM_001193416:exon12:c.1171-2A>G",".",".","Mental retardation, X-linked 102, X-linked recessive, X-linked dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",4.325,24,0.994,0.987,"D",".",".",".",".",".",".",5.17,1.058,1.077,0.958,0.973,14.166,"FamilyBased",".","ASD","WES",".","."]
[9406,25363768,"X",66028113,66028113,"C","T","DeNovo",".",".","Xq12","splicing","VSIG4",11326,"NM_001100431:exon3:c.413-1G>A;NM_001184831:exon3:c.413-1G>A;NM_007268:exon4:c.695-1G>A;NM_001184830:exon4:c.695-1G>A;NM_001257403:exon4:c.695-1G>A",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",4.176,23.8,0.994,0.668,"D",".",".",".",".",".",".",4.27,0.871,0.785,0.514,0.911,11.006,"FamilyBased",".","ASD","WES",".","."]
[9436,25363768,"X",106902201,106902201,"C","T","DeNovo",".",".","Xq22.3","exonic","RIPPLY1",92129,".","stopgain","RIPPLY1:NM_138382:exon2:c.G170A:p.W57X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.006,"N",1,"A",".",".",".",".",".",".",".",12.436,39,0.993,0.788,"D",".",".",".",".",".",".",4.33,0.598,0.935,0.913,0.995,11.117,"FamilyBased",".","ASD","WES",".","."]
[9446,25363768,"X",119851853,119851853,"G","GA","DeNovo",".",".","Xq24","exonic","UPF3B",65109,".","frameshift substitution","UPF3B:NM_023010:exon2:c.177delinsTC:p.T61Hfs*16,UPF3B:NM_080632:exon2:c.177delinsTC:p.T61Hfs*16","Mental retardation, X-linked, syndromic 14, X-linked recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WES",".","."]
[9479,25363768,"X",153693262,153693262,"G","T","DeNovo",".",".","Xq28","splicing","SLC6A8",6535,"NM_001142805:exon6:c.913-1G>T;NM_005629:exon6:c.913-1G>T;NM_001142806:exon6:c.568-1G>T",".",".","Cerebral creatine deficiency syndrome 1, X-linked recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",4.395,24.1,0.995,0.998,"D",".",".",".",".",".",".",5.07,0.917,0.982,0.767,0.718,16.243,"FamilyBased",".","ASD","WES",".","."]
[9535,25621899,6,137874935,137874935,"-","GCTCAAGGAAACAGACA","DeNovo",".",".","6q23.3","exonic","TNFAIP3",7128,".","frameshift insertion","TNFAIP3:NM_001270507:exon3:c.386_387insGCTCAAGGAAACAGACA:p.T135Sfs*87,TNFAIP3:NM_001270508:exon3:c.386_387insGCTCAAGGAAACAGACA:p.T135Sfs*87,TNFAIP3:NM_006290:exon3:c.386_387insGCTCAAGGAAACAGACA:p.T135Sfs*87","Autoinflammatory syndrome, familial, Behcet-like, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WGS",".","."]
[9565,25621899,9,127682438,127682438,"C","-","DeNovo",".",".","9q34.11","exonic","STXBP1",6812,".","frameshift deletion","STXBP1:NM_001032221:exon18:c.1580delC:p.P528Qfs*18,STXBP1:NM_003165:exon18:c.1580delC:p.P528Qfs*18","Epileptic encephalopathy, early infantile, 4, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WGS",".","."]
[9578,25621899,15,66528876,66528876,"-","C","DeNovo",".",".","15q22.31","exonic","ZWILCH",55055,".","frameshift insertion","ZWILCH:NM_001287822:exon10:c.652_653insC:p.V218Afs*14,ZWILCH:NM_001287823:exon10:c.652_653insC:p.V218Afs*14,ZWILCH:NM_001287821:exon11:c.652_653insC:p.V218Afs*14,ZWILCH:NM_017975:exon11:c.994_995insC:p.V332Afs*14",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WGS",".","."]
[9585,25621899,10,92613477,92613477,"G","-","DeNovo",".",".","10q23.33","exonic","KIF11",3832,".","frameshift deletion","KIF11:NM_004523:exon8:c.890delG:p.V298Sfs*6","Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WGS",".","."]
[9591,25621899,16,3137462,3137462,"A","-","DeNovo",".",".","16p13.3","exonic","ZNF213",7760,".","frameshift deletion","ZNF213:NM_001134655:exon2:c.182delA:p.E61Gfs*34,ZNF213:NM_004220:exon2:c.182delA:p.E61Gfs*34",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WGS",".","."]
[9594,25621899,21,33888212,33888212,"-","C","DeNovo",".",".","21q22.11","exonic","ITSN1",6453,".","frameshift insertion","ITSN1:NM_001331010:exon39:c.5063_5064insC:p.P1689Sfs*26,ITSN1:NM_003024:exon40:c.5078_5079insC:p.P1694Sfs*26",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WGS",".","."]
[9595,25621899,1,10271541,10271541,"C","T","DeNovo",".",".","1p36.22","exonic","KIF1B",23095,".","stopgain","KIF1B:NM_015074:exon8:c.C760T:p.R254X,KIF1B:NM_183416:exon8:c.C760T:p.R254X","Pheochromocytoma, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",12.198,38,0.998,0.924,"D",".",".",".",".",0.707,0,4.68,-0.074,0.892,0.998,1,13.889,"FamilyBased",".","ASD","WGS",".","."]
[9631,25621899,3,197006547,197006547,"-","C","DeNovo",".",".","3q29","splicing","MELTF",4241,"NM_005929:exon14:c.1938+2->G",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WGS",".","."]
[9642,25621899,1,156592393,156592393,"-","C","DeNovo",".",".","1q22","exonic","NAXE",128240,".","frameshift insertion","NAXE:NM_144772:exon3:c.321dupC:p.T110Yfs*11","Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, Autosomal recessive",".","rs779820587",{"v":1.65e-05,"d":"1.65E-05"},{"v":9.61e-05,"d":"9.61E-05"},{"v":8.64e-05,"d":"8.64E-05"},0,0,0,0,0,".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WGS",".","."]
[9655,25621899,15,78513332,78513332,"A","-","DeNovo",".",".","15q25.1","exonic","HYKK",123688,".","frameshift deletion","HYKK:NM_001013619:exon2:c.244delA:p.N82Ifs*7,HYKK:NM_001083612:exon2:c.244delA:p.N82Ifs*7",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WGS",".","."]
[9660,25621899,7,99975991,99975991,"A","-","DeNovo",".",".","7q22.1","exonic","AZGP1",563,".","frameshift deletion","AZGP1:NM_001185:exon1:c.30delT:p.L11Cfs*20",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WGS",".","."]
[9662,25621899,3,120954947,120954947,"G","-","DeNovo",".",".","3q13.33","exonic","STXBP5L",9515,".","frameshift deletion","STXBP5L:NM_001308330:exon3:c.197delG:p.H67Mfs*10,STXBP5L:NM_001348343:exon3:c.197delG:p.H67Mfs*10,STXBP5L:NM_001348344:exon3:c.197delG:p.H67Mfs*10,STXBP5L:NM_001348345:exon3:c.197delG:p.H67Mfs*10,STXBP5L:NM_014980:exon3:c.197delG:p.H67Mfs*10",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WGS",".","."]
[9663,25621899,18,23903987,23903987,"A","T","DeNovo",".",".","18q11.2","exonic","LAMA3",3909,".","stopgain","LAMA3:NM_001127718:exon12:c.A1378T:p.K460X,LAMA3:NM_000227:exon13:c.A1546T:p.K516X,LAMA3:NM_001127717:exon49:c.A6205T:p.K2069X,LAMA3:NM_198129:exon50:c.A6373T:p.K2125X","Epidermolysis bullosa, generalized atrophic benign, Autosomal recessive;Epidermolysis bullosa, junctional, Herlitz type, Autosomal recessive;Laryngoonychocutaneous syndrome, Autosomal recessive",".","rs112046424",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"A",".",".",".",".",".",".",".",15.827,53,0.996,0.974,"D",".",".",".",".",0.615,0,4.93,-0.008,1.199,0.929,0.994,13.774,"FamilyBased",".","ASD","WGS",".","."]
[9668,25621899,1,32386881,32386882,"CA","-","DeNovo",".",".","1p35.1","exonic","BSDC1",55108,".","frameshift deletion","BSDC1:NM_001143888:exon3:c.86_87del:p.L29*,BSDC1:NM_001143889:exon3:c.86_87del:p.L29*,BSDC1:NM_001300958:exon3:c.86_87del:p.L29*,BSDC1:NM_018045:exon3:c.86_87del:p.L29*",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WGS",".","."]
[9672,25621899,1,69825781,69825784,"GTAA","-","DeNovo",".",".","1p31.1","exonic","LRRC7",57554,".","frameshift deletion","LRRC7:NM_020794:exon3:c.341_344del:p.K115Vfs*2,LRRC7:NM_001350216:exon5:c.458_461del:p.K154Vfs*2,LRRC7:NM_001330635:exon6:c.356_359del:p.K120Vfs*2",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WGS",".","."]
[9696,25621899,22,50683379,50683380,"AG","-","DeNovo",".",".","22q13.33","exonic","SHANK3",85358,".","frameshift deletion","SHANK3:NM_033517:exon8:c.925_926del:p.R309Gfs*21","Phelan-McDermid syndrome, Isolated cases",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WGS",".","."]
[9724,23260136,1,41511071,41511071,"G","A","DeNovo",".",".","1p34.2","exonic","HIVEP3",59269,".","stopgain","HIVEP3:NM_001127714:exon8:c.C6598T:p.Q2200X,HIVEP3:NM_024503:exon9:c.C6601T:p.Q2201X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",".",".",".",".",".",".",".",12.594,39,0.995,0.995,"D",".",".",".",".",0.615,0,4.02,0.917,1.048,1,1,15.036,"FamilyBased",".","ASD","WGS",".","."]
[10447,27525107,1,184737663,184737663,"G","A","DeNovo",".","Germline","1q25.3","exonic","EDEM3",80267,".","stopgain","EDEM3:NM_001319960:exon3:c.C253T:p.R85X,EDEM3:NM_025191:exon3:c.C253T:p.R85X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",10.988,37,0.997,0.894,"D",".",".",".",".",0.707,0,5.15,0.917,0.127,0.967,0.985,12.385,"FamilyBased","canadian","ASD","WGS",".","."]
[10557,27525107,12,113924696,113924696,"C","T","DeNovo","Father","Germline","12q24.21","splicing","RBM19",9904,"NM_001146699:exon18:c.2305+1G>A;NM_001146698:exon18:c.2305+1G>A;NM_016196:exon18:c.2305+1G>A",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",4.858,24.9,0.993,0.993,"D",".",".",".",".",0.295,0,5.74,0.871,0.935,0.968,0.997,16.633,"FamilyBased","canadian","ASD","WGS",".","."]
[11813,27525107,9,74738418,74738418,"A","T","DeNovo",".","Germline","9q21.13","exonic","TRPM6",140803,".","stopgain","TRPM6:NM_001177310:exon36:c.T5750A:p.L1917X,TRPM6:NM_001177311:exon36:c.T5750A:p.L1917X,TRPM6:NM_017662:exon36:c.T5765A:p.L1922X","Hypomagnesemia 1, intestinal, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",16.897,57,0.995,0.989,"D",".",".",".",".",0.554,0,5.94,1.062,1.199,0.999,1,16.395,"FamilyBased","canadian","ASD","WGS",".","."]
[12048,27525107,4,20488964,20488964,"C","T","DeNovo",".","Somatic","4p15.31","exonic","SLIT2",9353,".","stopgain","SLIT2:NM_001289135:exon8:c.C757T:p.R253X,SLIT2:NM_001289136:exon8:c.C757T:p.R253X,SLIT2:NM_004787:exon8:c.C757T:p.R253X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",11.163,37,0.992,0.913,"D",".",".",".",".",0.693,0,4.74,0.871,0.048,0.999,0.969,15.838,"FamilyBased","canadian","ASD","WGS",".","."]
[12344,27525107,19,36819383,36819383,"G","A","DeNovo",".","Germline","19q13.12","exonic","ZNF790",388536,".","stopgain","ZNF790:NM_001242800:exon5:c.C961T:p.Q321X,ZNF790:NM_001242801:exon5:c.C961T:p.Q321X,ZNF790:NM_001242802:exon5:c.C961T:p.Q321X,ZNF790:NM_206894:exon5:c.C961T:p.Q321X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",7.659,35,0.989,0.007,"N",".",".",".",".",0.557,1,-1.97,-0.648,-0.121,0.032,0.074,0.787,"FamilyBased","canadian","ASD","WGS",".","."]
[13171,27525107,17,58327608,58327608,"C","A","DeNovo",".","Germline","17q22","exonic","TSPOAP1",9256,".","stopgain","TSPOAP1:NM_001261835:exon1:c.G313T:p.E105X,TSPOAP1:NM_004758:exon1:c.G313T:p.E105X,TSPOAP1:NM_024418:exon1:c.G313T:p.E105X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.143,"N",1,"A",".",".",".",".",".",".",".",6.349,29.4,0.996,0.387,"N",".",".",".",".",0.652,0,3.96,0.871,0.919,0.008,0.505,8.993,"FamilyBased","canadian","ASD","WGS",".","."]
[14078,27525107,11,70490306,70490306,"G","A","DeNovo",".","Germline","11q13.3","exonic","SHANK2",22941,".","stopgain","SHANK2:NM_133266:exon8:c.C757T:p.R253X,SHANK2:NM_012309:exon22:c.C2521T:p.R841X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.055,"N",1,"A",".",".",".",".",".",".",".",12.822,40,0.998,0.9,"D",".",".",".",".",0.635,0,4.63,0.83,0.956,0.999,0.997,17.5,"FamilyBased","canadian","ASD","WGS",".","."]
[14475,27525107,1,15931632,15931632,"C","T","DeNovo",".","Germline","1p36.13","exonic","SPEN",23013,".","stopgain","SPEN:NM_015001:exon11:c.C5392T:p.Q1798X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"A",".",".",".",".",".",".",".",8.711,35,0.994,0.622,"D",".",".",".",".",0.707,0,3.37,0.871,0.892,0.875,0.658,10.875,"FamilyBased","canadian","ASD","WGS",".","."]
[15958,27525107,6,152754277,152754277,"T","A","DeNovo","Mother","Germline","6q25.2","exonic","VIP",7432,".","stopgain","VIP:NM_003381:exon3:c.T219A:p.Y73X,VIP:NM_194435:exon3:c.T219A:p.Y73X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.004,"N",1,"A",".",".",".",".",".",".",".",10.644,36,0.995,0.516,"D",".",".",".",".",0.615,0,0.289,0.991,0.055,0.997,0.993,5.754,"FamilyBased","canadian","ASD","WGS",".","."]
[16342,27525107,11,34086377,34086377,"C","T","DeNovo","Father","Germline","11p13","exonic","CAPRIN1",4076,".","stopgain","CAPRIN1:NM_005898:exon11:c.C1195T:p.Q399X,CAPRIN1:NM_203364:exon11:c.C1195T:p.Q399X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",12.547,39,0.998,0.961,"D",".",".",".",".",0.707,0,6.03,0.871,0.935,0.958,0.859,20.575,"FamilyBased","canadian","ASD","WGS",".","."]
[18013,27525107,14,23565118,23565118,"C","T","DeNovo",".","Germline","14q11.2","splicing","AP1G2",8906,"NM_001282475:exon6:c.606+1G>A;NM_001282474:exon6:UTR5;NM_003917:exon8:c.822+1G>A",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",4.998,25.1,0.995,0.932,"D",".",".",".",".",0.257,0,4.81,0.871,0.935,0.803,0.861,15.39,"FamilyBased","canadian","ASD","WGS",".","."]
[18425,27525107,1,145846011,145846011,"T","A","DeNovo","Father","Somatic","1q21.1","splicing","NUDT17",200035,"NM_001012758:exon2:c.193-2T>A",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased","canadian","ASD","WGS",".","."]
[20824,27525107,14,92003983,92003983,"T","-","DeNovo",".",".","14q32.12","exonic","TRIP11",9321,".","frameshift deletion","TRIP11:NM_001321851:exon11:c.3990delA:p.A1331Qfs*7,TRIP11:NM_004239:exon11:c.3993delA:p.A1332Qfs*7","Achondrogenesis, type IA, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased","canadian","ASD","WGS",".","."]
[20895,27525107,3,133653389,133653390,"AT","-","DeNovo","Mother",".","3q22.1","exonic","TOPBP1",11073,".","frameshift deletion","TOPBP1:NM_007027:exon7:c.877_878del:p.M293Afs*14",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased","canadian","ASD","WGS",".","."]
[20910,27525107,15,57063759,57063759,"A","-","DeNovo",".",".","15q21.3","exonic","TCF12",6938,".","frameshift deletion","TCF12:NM_001322165:exon3:c.158delA:p.R54Efs*33,TCF12:NM_001322151:exon4:c.158delA:p.R54Efs*33,TCF12:NM_001322152:exon4:c.158delA:p.R54Efs*33,TCF12:NM_001322157:exon4:c.158delA:p.R54Efs*33,TCF12:NM_001322159:exon4:c.158delA:p.R54Efs*33,TCF12:NM_001322161:exon4:c.158delA:p.R54Efs*33,TCF12:NM_001322162:exon4:c.158delA:p.R54Efs*33,TCF12:NM_001322164:exon4:c.194delA:p.R66Efs*33,TCF12:NM_003205:exon4:c.158delA:p.R54Efs*33,TCF12:NM_207036:exon4:c.158delA:p.R54Efs*33,TCF12:NM_207037:exon4:c.158delA:p.R54Efs*33,TCF12:NM_207038:exon4:c.158delA:p.R54Efs*33","Craniosynostosis 3, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased","canadian","ASD","WGS",".","."]
[20969,27525107,20,50893676,50893679,"TGAC","-","DeNovo",".",".","20q13.13","exonic","ADNP",23394,".","frameshift deletion","ADNP:NM_001282532:exon4:c.1035_1038del:p.S346*,ADNP:NM_181442:exon4:c.1035_1038del:p.S346*,ADNP:NM_001347511:exon5:c.1035_1038del:p.S346*,ADNP:NM_015339:exon5:c.1035_1038del:p.S346*,ADNP:NM_001282531:exon6:c.1035_1038del:p.S346*","Helsmoortel-van der Aa syndrome, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased","canadian","ASD","WGS",".","."]
[20975,27525107,2,165388681,165388681,"C","-","DeNovo","Father",".","2q24.3","exonic","SCN2A",6326,".","frameshift deletion","SCN2A:NM_001040143:exon26:c.4875delC:p.R1626Efs*2,SCN2A:NM_001040142:exon27:c.4875delC:p.R1626Efs*2,SCN2A:NM_021007:exon27:c.4875delC:p.R1626Efs*2","Epileptic encephalopathy, early infantile, 11, Autosomal dominant;Seizures, benign familial infantile, 3, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased","canadian","ASD","WGS",".","."]
[21043,27525107,2,238262951,238262952,"CT","-","DeNovo",".",".","2q37.3","exonic","PER2",8864,".","frameshift deletion","PER2:NM_022817:exon10:c.1153_1153del:p.I385Sfs*55","Advanced sleep phase syndrome, familial, 1, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased","canadian","ASD","WGS",".","."]
[21044,27525107,4,84683942,84683942,"C","-","DeNovo",".",".","4q21.23","splicing","WDFY3",23001,"NM_014991:exon63:c.9726+1G>-",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased","canadian","ASD","WGS",".","."]
[21080,27525107,10,366333,366333,"-","CA","DeNovo",".",".","10p15.3","exonic","DIP2C",22982,".","frameshift insertion","DIP2C:NM_014974:exon19:c.2209_2210insTG:p.A737Vfs*15",".","ID=COSM294311;OCCURENCE=1(large_intestine)",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased","canadian","ASD","WGS",".","."]
[21082,27525107,10,11257750,11257750,"-","A","DeNovo",".",".","10p14","exonic","CELF2",10659,".","frameshift insertion","CELF2:NM_001326338:exon4:c.63dupA:p.L23Ifs*11,CELF2:NM_001326339:exon4:c.63dupA:p.L23Ifs*11,CELF2:NM_001025076:exon5:c.324dupA:p.L110Ifs*11,CELF2:NM_001025077:exon5:c.396dupA:p.L134Ifs*11,CELF2:NM_001083591:exon5:c.324dupA:p.L110Ifs*11,CELF2:NM_001326329:exon5:c.324dupA:p.L110Ifs*11,CELF2:NM_001326330:exon5:c.324dupA:p.L110Ifs*11,CELF2:NM_001326331:exon5:c.396dupA:p.L134Ifs*11,CELF2:NM_001326332:exon5:c.396dupA:p.L134Ifs*11,CELF2:NM_001326335:exon5:c.396dupA:p.L134Ifs*11,CELF2:NM_001326336:exon5:c.396dupA:p.L134Ifs*11,CELF2:NM_001326337:exon5:c.396dupA:p.L134Ifs*11,CELF2:NM_001326340:exon5:c.417dupA:p.L141Ifs*11,CELF2:NM_001326341:exon5:c.417dupA:p.L141Ifs*11,CELF2:NM_001326342:exon5:c.417dupA:p.L141Ifs*11,CELF2:NM_001326343:exon5:c.417dupA:p.L141Ifs*11,CELF2:NM_001326344:exon5:c.324dupA:p.L110Ifs*11,CELF2:NM_001326345:exon5:c.324dupA:p.L110Ifs*11,CELF2:NM_001326347:exon5:c.348dupA:p.L118Ifs*11,CELF2:NM_001326348:exon5:c.324dupA:p.L110Ifs*11,CELF2:NM_001326349:exon5:c.324dupA:p.L110Ifs*11,CELF2:NM_006561:exon5:c.417dupA:p.L141Ifs*11,CELF2:NM_001326324:exon6:c.324dupA:p.L110Ifs*11,CELF2:NM_001326326:exon6:c.432dupA:p.L146Ifs*11,CELF2:NM_001326327:exon6:c.432dupA:p.L146Ifs*11,CELF2:NM_001326334:exon6:c.324dupA:p.L110Ifs*11,CELF2:NM_001326317:exon7:c.324dupA:p.L110Ifs*11,CELF2:NM_001326318:exon7:c.324dupA:p.L110Ifs*11,CELF2:NM_001326321:exon7:c.324dupA:p.L110Ifs*11,CELF2:NM_001326325:exon7:c.489dupA:p.L165Ifs*11,CELF2:NM_001326328:exon7:c.324dupA:p.L110Ifs*11,CELF2:NM_001326319:exon8:c.324dupA:p.L110Ifs*11,CELF2:NM_001326320:exon8:c.324dupA:p.L110Ifs*11,CELF2:NM_001326323:exon8:c.324dupA:p.L110Ifs*11",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased","canadian","ASD","WGS",".","."]
[21088,27525107,7,99548369,99548369,"T","-","DeNovo",".",".","7q22.1","exonic","FAM200A",221786,".","frameshift deletion","FAM200A:NM_145111:exon2:c.39delA:p.G15Vfs*9",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased","canadian","ASD","WGS",".","."]
[21279,27525107,2,165314040,165314071,"GCTGAACAGAAGGAAGCTGAATTTCAGCAGAT","-","DeNovo",".",".","2q24.3","exonic","SCN2A",6326,".","frameshift deletion","SCN2A:NM_001040143:exon9:c.1315_1346del:p.E440Rfs*20,SCN2A:NM_001040142:exon10:c.1315_1346del:p.E440Rfs*20,SCN2A:NM_021007:exon10:c.1315_1346del:p.E440Rfs*20","Epileptic encephalopathy, early infantile, 11, Autosomal dominant;Seizures, benign familial infantile, 3, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased","canadian","ASD","WGS",".","."]
[21325,27525107,10,73534723,73534723,"-","C","DeNovo",".",".","10q22.2","exonic","USP54",159195,".","frameshift insertion","USP54:NM_152586:exon10:c.1191dupG:p.E398Gfs*11,USP54:NM_001320441:exon12:c.1191dupG:p.E398Gfs*11",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased","canadian","ASD","WGS",".","."]
[21391,27525107,3,57287908,57287909,"AA","-","DeNovo","Father",".","3p14.3","exonic","ASB14",142686,".","frameshift deletion","ASB14:NM_001142733:exon5:c.461_462del:p.L154Pfs*7",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased","canadian","ASD","WGS",".","."]
[21413,27525107,1,236595913,236595913,"C","-","DeNovo",".",".","1q43","exonic","HEATR1",55127,".","frameshift deletion","HEATR1:NM_018072:exon7:c.876delG:p.I293Ffs*4",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased","canadian","ASD","WGS",".","."]
[21422,27525107,22,50722365,50722365,"-","G","DeNovo","Mother",".","22q13.33","exonic","SHANK3",85358,".","frameshift insertion","SHANK3:NM_033517:exon21:c.4491dupG:p.E1499Gfs*30","Phelan-McDermid syndrome, Isolated cases",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased","canadian","ASD","WGS",".","."]
[21440,27525107,3,142421136,142421136,"-","T","DeNovo",".",".","3q23","exonic","XRN1",54464,".","frameshift insertion","XRN1:NM_001282857:exon10:c.1052_1053insA:p.F351Lfs*3,XRN1:NM_001282859:exon10:c.1052_1053insA:p.F351Lfs*3,XRN1:NM_019001:exon10:c.1052_1053insA:p.F351Lfs*3",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased","canadian","ASD","WGS",".","."]
[21485,27525107,6,33438913,33438913,"-","A","DeNovo","Mother",".","6p21.32","exonic","SYNGAP1",8831,".","frameshift insertion","SYNGAP1:NM_001130066:exon10:c.1670_1671insA:p.H558Pfs*60,SYNGAP1:NM_006772:exon10:c.1670_1671insA:p.H558Pfs*60","Mental retardation, autosomal dominant 5, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased","canadian","ASD","WGS",".","."]
[21488,27525107,1,117011562,117011562,"C","-","DeNovo",".",".","1p13.1","exonic","CD101",9398,".","frameshift deletion","CD101:NM_001256106:exon3:c.437delC:p.L147Sfs*5,CD101:NM_001256109:exon3:c.437delC:p.L147Sfs*5,CD101:NM_004258:exon3:c.437delC:p.L147Sfs*5",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased","canadian","ASD","WGS",".","."]
[21518,22495311,1,150266557,150266557,"G","A","DeNovo",".",".","1q21.2","exonic","APH1A",51107,".","stopgain","APH1A:NM_001243771:exon5:c.C538T:p.R180X,APH1A:NM_001243772:exon5:c.C499T:p.R167X,APH1A:NM_001077628:exon6:c.C709T:p.R237X,APH1A:NM_016022:exon6:c.C709T:p.R237X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",2E-3,"N",1,"D",".",".",".",".",".",".",".",10.752,36,0.995,0.973,"D",".",".",".",".",0.707,0,4.09,0.917,0.112,1,0.998,11.08,"FamilyBased",".","ASD","WES",".","."]
[21519,22495311,1,151406993,151406993,"G","GGTAC","DeNovo",".",".","1q21.3","exonic","POGZ",23126,".","frameshift substitution","POGZ:NM_145796:exon15:c.2178delinsGTACC:p.F727Yfs*43,POGZ:NM_207171:exon15:c.2304delinsGTACC:p.F769Yfs*43,POGZ:NM_001194938:exon16:c.2277delinsGTACC:p.F760Yfs*43,POGZ:NM_001194937:exon17:c.2436delinsGTACC:p.F813Yfs*43,POGZ:NM_015100:exon17:c.2463delinsGTACC:p.F822Yfs*43;POGZ:NM_145796:exon15:c.2178delinsGTACC:p.F727Yfs*43,POGZ:NM_207171:exon15:c.2304delinsGTACC:p.F769Yfs*43,POGZ:NM_001194938:exon16:c.2277delinsGTACC:p.F760Yfs*43,POGZ:NM_001194937:exon17:c.2436delinsGTACC:p.F813Yfs*43,POGZ:NM_015100:exon17:c.2463delinsGTACC:p.F822Yfs*43","White-Sutton syndrome, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WES",".","."]
[21526,22495311,1,204410964,204410964,"G","A","DeNovo",".",".","1q32.1","exonic","PPP1R15B",84919,".","stopgain","PPP1R15B:NM_032833:exon1:c.C448T:p.Q150X","Microcephaly, short stature, and impaired glucose metabolism 2, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.013,"N",1,"A",".",".",".",".",".",".",".",9.84,36,0.998,0.535,"D",".",".",".",".",0.628,0,4.86,0.917,1.048,0.511,0.112,13.355,"FamilyBased",".","ASD","WES",".","."]
[21548,22495311,3,48413946,48413946,"A","-","DeNovo",".",".","3p21.31","exonic","PLXNB1",5364,".","frameshift deletion","PLXNB1:NM_001130082:exon22:c.4335delG:p.P1446Hfs*74,PLXNB1:NM_002673:exon22:c.4335delG:p.P1446Hfs*74",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WES",".","."]
[21552,22495311,3,98791840,98791840,"G","C","DeNovo",".",".","3q12.1","splicing","ST3GAL6",10402,"NM_001323352:exon10:c.757-1G>C;NM_001271142:exon10:c.499-1G>C;NM_001271148:exon6:c.325-1G>C;NM_001271147:exon9:c.403-1G>C;NM_001323353:exon8:c.325-1G>C;NM_001323358:exon11:c.433-1G>C;NM_001323359:exon10:c.433-1G>C;NM_001323360:exon11:c.499-1G>C;NM_001323362:exon9:c.325-1G>C;NM_001271146:exon9:c.757-1G>C;NM_001323363:exon8:c.325-1G>C;NM_001323364:exon9:c.325-1G>C;NM_006100:exon10:c.757-1G>C;NM_001271145:exon9:c.916-1G>C;NM_001323365:exon10:c.757-1G>C;NM_001323366:exon11:c.499-1G>C;NM_001323368:exon9:c.757-1G>C;NM_001323367:exon9:c.826-1G>C",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",4.869,24.9,0.994,0.964,"D",".",".",".",".",0.164,0,5.7,0.917,1.03,0.863,0.946,17.332,"FamilyBased",".","ASD","WES",".","."]
[21566,22495311,5,32263193,32263193,"C","T","DeNovo",".",".","5p13.3","exonic","MTMR12",54545,".","stopgain","MTMR12:NM_001040446:exon7:c.G633A:p.W211X,MTMR12:NM_001294343:exon7:c.G633A:p.W211X,MTMR12:NM_001294344:exon7:c.G633A:p.W211X",".",".","rs867830741",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",13.089,41,0.996,0.957,"D",".",".",".",".",0.707,0,5.55,0.871,0.932,0.998,1,19.518,"FamilyBased",".","ASD","WES",".","."]
[21581,22495311,6,87215999,87215999,"C","T","DeNovo",".",".","6q14.3","exonic","ZNF292",23036,".","stopgain","ZNF292:NM_015021:exon2:c.C265T:p.R89X",".",".","rs865909396",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"A",".",".",".",".",".",".",".",10.997,37,0.997,0.826,"D",".",".",".",".",0.732,0,4.81,0.871,0.935,0.992,0.999,18.238,"FamilyBased",".","ASD","WES",".","."]
[21591,22495311,7,103682156,103682156,"G","A","DeNovo",".",".","7q22.1","exonic","RELN",5649,".","stopgain","RELN:NM_005045:exon11:c.C1249T:p.Q417X,RELN:NM_173054:exon11:c.C1249T:p.Q417X","Lissencephaly 2 (Norman-Roberts type), Autosomal recessive;Lissencephaly 2 (Norman-Roberts type), Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",11.74,38,0.998,0.96,"D",".",".",".",".",0.595,0,5.73,0.917,1.048,1,1,20.26,"FamilyBased",".","ASD","WES",".","."]
[21594,22495311,8,6643025,6643025,"T","A","DeNovo",".",".","8p23.1","exonic","MCPH1",79648,".","stoploss","MCPH1:NM_001322042:exon15:c.T2626A:p.X876R","Microcephaly 1, primary, autosomal recessive, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WES",".","."]
[21604,22495311,10,29480696,29480696,"C","A","DeNovo",".",".","10p11.23","exonic","SVIL",6840,".","stopgain","SVIL:NM_003174:exon27:c.G3940T:p.E1314X,SVIL:NM_001323600:exon28:c.G4036T:p.E1346X,SVIL:NM_021738:exon29:c.G5218T:p.E1740X,SVIL:NM_001323599:exon30:c.G4288T:p.E1430X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",12.91,40,0.995,0.962,"D",".",".",".",".",0.706,0,3.51,0.871,0.79,0.972,0.958,14.534,"FamilyBased",".","ASD","WES",".","."]
[21613,22495311,11,9141973,9141973,"C","T","DeNovo",".",".","11p15.4","exonic;splicing","DENND5A;DENND5A","23258;23258","NM_001243254:exon22:c.3646+1G>A;NM_001243254:exon22:c.3646+1G>A","nonsynonymous SNV","DENND5A:NM_001348749:exon21:c.G3575A:p.G1192D,DENND5A:NM_015213:exon22:c.G3647A:p.G1216D,DENND5A:NM_001348748:exon23:c.G3647A:p.G1216D,DENND5A:NM_001348750:exon23:c.G3359A:p.G1120D",".",".","rs866752020",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.003,"D",1,"D",1,"D",0,"D",1,"D",2.2,"M",2.19,"T",-5.25,"D",0.643,5.638,26.6,0.987,0.989,"D",-0.903,"T",0.137,"T",0.707,0,4.65,0.871,0.935,0.998,0.996,14.451,"FamilyBased",".","ASD","WES",".","."]
[21629,22495311,12,54399938,54399938,"C","A","DeNovo",".",".","12q13.13","exonic","ITGA5",3678,".","stopgain","ITGA5:NM_002205:exon26:c.G2653T:p.E885X",".",".","rs867921931",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.955,"N",1,"A",".",".",".",".",".",".",".",11.245,37,0.994,0.182,"N",".",".",".",".",0.672,0,2.61,0.598,0.935,0.161,0.012,5.969,"FamilyBased",".","ASD","WES",".","."]
[21630,22495311,12,56172584,56172584,"C","A","DeNovo",".",".","12q13.2","splicing","SMARCC2",6601,"NM_139067:exon19:c.1863+1G>T;NM_003075:exon18:c.1770+1G>T;NM_001330288:exon19:c.1863+1G>T;NM_001130420:exon19:c.1863+1G>T;NM_139067:exon19:c.1863+1G>T;NM_003075:exon18:c.1770+1G>T;NM_001330288:exon19:c.1863+1G>T;NM_001130420:exon19:c.1863+1G>T",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",5.367,25.9,0.994,0.988,"D",".",".",".",".",0.284,0,5.15,0.598,0.927,0.938,0.99,17.789,"FamilyBased",".","ASD","WES",".","."]
[21642,22495311,13,48001197,48001197,"G","A","DeNovo",".",".","13q14.2","exonic","SUCLA2",8803,".","stopgain","SUCLA2:NM_003850:exon1:c.C73T:p.Q25X","Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.197,"T",".",".",".",".",".",".",1,"A",".",".",-0.96,"T",0.3,"N",".",7.334,34,0.813,0.694,"D",-0.647,"T",0.266,"T",0.442,0,2.12,-0.133,-0.017,0.018,1E-3,9.359,"FamilyBased",".","ASD","WES",".","."]
[21644,22495311,14,45102603,45102603,"G","A","DeNovo",".",".","14q21.2","exonic","PRPF39",55015,".","stopgain","PRPF39:NM_017922:exon5:c.G644A:p.W215X",".",".","rs867103696",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",12.096,38,0.995,0.994,"D",".",".",".",".",0.732,0,5.62,0.917,1.048,1,1,19.256,"FamilyBased",".","ASD","WES",".","."]
[21671,22495311,19,1619178,1619178,"-","T","DeNovo",".",".","19p13.3","exonic","TCF3",6929,".","frameshift insertion","TCF3:NM_001136139:exon15:c.1382dupA:p.N461Kfs*14,TCF3:NM_003200:exon16:c.1382dupA:p.N461Kfs*14","Agammaglobulinemia 8, autosomal dominant, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WES",".","."]
[21690,28344757,11,67240269,67240269,"C","CT","DeNovo",".",".","11q13.2","exonic","KDM2A",22992,".","frameshift substitution","KDM2A:NM_001256405:exon1:c.62delinsCT:p.N22*",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WES",".","."]
[21693,28344757,7,122044569,122044569,"G","T","DeNovo",".",".","7q31.32","splicing","PTPRZ1",5803,"NM_002851:exon23:c.6084+1G>T;NM_001206839:exon22:c.3483+1G>T;NM_001206838:exon23:c.3504+1G>T",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",5.334,25.8,0.996,0.997,"D",".",".",".",".",0.099,0,5.5,0.917,0.953,0.983,0.996,19.394,"FamilyBased",".","ASD","WES",".","."]
[21711,28344757,16,1975005,1975005,"C","G","DeNovo",".",".","16p13.3","exonic","TBL3",10607,".","stopgain","TBL3:NM_006453:exon7:c.C542G:p.S181X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.677,"N",1,"A",".",".",".",".",".",".",".",8.529,35,0.995,0.941,"D",".",".",".",".",0.707,0,2.18,-0.064,0.852,0.277,0.986,6.984,"FamilyBased",".","ASD","WES",".","."]
[21718,28344757,19,52512003,52512003,"G","GT","DeNovo",".",".","19q13.41","exonic","ZNF578",147660,".","frameshift substitution","ZNF578:NM_001099694:exon6:c.1622delinsGT:p.K542*",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WES",".","."]
[21723,28344757,10,114861335,114861335,"G","A","DeNovo",".",".","10q25.3","splicing","FAM160B1",57700,"NM_020940:exon16:c.2192+1G>A;NM_001135051:exon16:c.2192+1G>A",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",4.298,24,0.994,0.998,"D",".",".",".",".",0.295,0,5.78,0.917,0.998,0.79,0.846,20.011,"FamilyBased",".","ASD","WES",".","."]
[21725,28344757,20,24983901,24983901,"A","G","DeNovo",".",".","20p11.21","splicing","APMAP",57136,"NM_020531:exon2:c.212+2T>C",".",".",".",".","rs754957086",{"v":1.66E-5,"d":"1.66E-05"},0,0,0,0,{"v":3.01E-5,"d":"3.01E-05"},0,0,".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",5.541,26.3,0.994,0.958,"D",".",".",".",".",0.295,0,5.93,1.062,1.199,0.865,0.933,12.772,"FamilyBased",".","ASD","WES",".","."]
[21746,28344757,14,102042423,102042423,"G","A","DeNovo",".",".","14q32.31","exonic","DYNC1H1",1778,".","stopgain","DYNC1H1:NM_001376:exon68:c.G12315A:p.W4105X","Charcot-Marie-Tooth disease, axonal, type 20, Autosomal dominant;Mental retardation, autosomal dominant 13, Autosomal dominant;Spinal muscular atrophy, lower extremity-predominant 1, AD, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",16.414,55,0.992,0.995,"D",".",".",".",".",0.707,0,5.91,0.917,1.048,1,1,20.305,"FamilyBased",".","ASD","WES",".","."]
[21752,28344757,4,112278218,112278218,"G","A","DeNovo",".",".","4q25","exonic","TIFA",92610,".","stopgain","TIFA:NM_052864:exon2:c.C199T:p.R67X",".",".","rs367861259",{"v":8.31e-06,"d":"8.31E-06"},0,0,0,0,{"v":1.5E-5,"d":"1.50E-05"},0,0,".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",".",".",".",".",".",".",".",11.699,38,0.998,0.894,"D",".",".",".",".",0.707,0,3.99,-0.045,1.048,0.994,0.976,16.519,"FamilyBased",".","ASD","WES",".","."]
[21761,28344757,1,173978536,173978536,"G","A","DeNovo",".",".","1q25.1","exonic","RC3H1",149041,".","stopgain","RC3H1:NM_001300850:exon6:c.C1054T:p.R352X,RC3H1:NM_001300851:exon6:c.C1054T:p.R352X,RC3H1:NM_001300852:exon6:c.C1054T:p.R352X,RC3H1:NM_172071:exon6:c.C1054T:p.R352X",".",".","rs772555519",{"v":8.24e-06,"d":"8.24E-06"},0,0,0,0,{"v":1.5E-5,"d":"1.50E-05"},0,0,".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",11.958,38,0.998,0.957,"D",".",".",".",".",0.566,0,5.63,0.917,1.048,1,1,13.254,"FamilyBased",".","ASD","WES",".","."]
[21772,28344757,3,70977994,70977994,"G","GGACTT","DeNovo",".",".","3p13","exonic","FOXP1",27086,".","frameshift substitution","FOXP1:NM_001244813:exon9:c.882delinsAAGTCC:p.A295Sfs*22,FOXP1:NM_001349344:exon9:c.879delinsAAGTCC:p.A294Sfs*22,FOXP1:NM_001244812:exon10:c.954delinsAAGTCC:p.A319Sfs*22,FOXP1:NM_001244815:exon10:c.1188delinsAAGTCC:p.A397Sfs*22,FOXP1:NM_001349337:exon10:c.1185delinsAAGTCC:p.A396Sfs*22,FOXP1:NM_001349342:exon10:c.882delinsAAGTCC:p.A295Sfs*22,FOXP1:NM_001349343:exon10:c.879delinsAAGTCC:p.A294Sfs*22,FOXP1:NM_001244814:exon11:c.1182delinsAAGTCC:p.A395Sfs*22,FOXP1:NM_001244816:exon14:c.1182delinsAAGTCC:p.A395Sfs*22,FOXP1:NM_001349340:exon14:c.1182delinsAAGTCC:p.A395Sfs*22,FOXP1:NM_001244808:exon15:c.1182delinsAAGTCC:p.A395Sfs*22,FOXP1:NM_001244810:exon15:c.1182delinsAAGTCC:p.A395Sfs*22,FOXP1:NM_001349338:exon15:c.1182delinsAAGTCC:p.A395Sfs*22,FOXP1:NM_001349339:exon15:c.1182delinsAAGTCC:p.A395Sfs*22,FOXP1:NM_001349341:exon15:c.1179delinsAAGTCC:p.A394Sfs*22,FOXP1:NM_032682:exon15:c.1182delinsAAGTCC:p.A395Sfs*22","Mental retardation with language impairment and with or without autistic features, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WES",".","."]
[21774,28344757,12,62384303,62384303,"G","A","DeNovo",".",".","12q14.1","splicing","USP15",9958,"NM_001252078:exon11:c.1473+1G>A;NM_001351163:exon11:c.474+1G>A;NM_006313:exon10:c.1386+1G>A;NM_001351159:exon12:c.1110+1G>A;NM_001351160:exon9:c.726+1G>A;NM_001351164:exon11:c.474+1G>A;NM_001351165:exon13:c.474+1G>A;NM_001351166:exon12:c.474+1G>A",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",3.289,22.8,0.983,0.988,"D",".",".",".",".",0.295,0,4.27,0.917,0.112,0.973,0.971,15.268,"FamilyBased",".","ASD","WES",".","."]
[21779,28344757,5,93585105,93585105,"C","T","DeNovo",".",".","5q15","exonic","NR2F1",7025,".","stopgain","NR2F1:NM_005654:exon1:c.C82T:p.Q28X","Bosch-Boonstra-Schaaf optic atrophy syndrome, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.202,"N",1,"A",".",".",".",".",".",".",".",9.161,35,0.997,0.388,"N",".",".",".",".",0.496,0,1.72,-0.054,-0.3,0.983,0.991,6.669,"FamilyBased",".","ASD","WES",".","."]
[21806,28344757,15,45061099,45061099,"C","T","DeNovo",".",".","15q21.1","exonic","SORD",6652,".","stopgain","SORD:NM_003104:exon4:c.C298T:p.R100X",".",".","rs535669510",{"v":8.24e-06,"d":"8.24E-06"},0,0,0,0,{"v":1.5E-5,"d":"1.50E-05"},0,0,".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",10.704,36,0.998,0.961,"D",".",".",".",".",0.722,0,3.29,0.871,0.935,0.809,0.528,10.229,"FamilyBased",".","ASD","WES",".","."]
[21809,28344757,1,202750772,202750772,"G","A","DeNovo",".",".","1q32.1","exonic","KDM5B",10765,".","stopgain","KDM5B:NM_001347591:exon12:c.C1573T:p.R525X,KDM5B:NM_006618:exon13:c.C1708T:p.R570X,KDM5B:NM_001314042:exon14:c.C1816T:p.R606X",".",".","rs367833330",{"v":8.27e-06,"d":"8.27E-06"},0,0,0,0,{"v":1.5E-5,"d":"1.50E-05"},0,0,".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",11.712,38,0.997,0.947,"D",".",".",".",".",0.744,0,3.23,-0.033,-0.502,0.997,0.993,14.312,"FamilyBased",".","ASD","WES",".","."]
[21814,28344757,1,145900112,145900112,"G","A","DeNovo",".",".","1q21.1","exonic","ITGA10",8515,".","stopgain","ITGA10:NM_001303041:exon11:c.G1438T:p.G480X,ITGA10:NM_001303040:exon12:c.G1474T:p.G492X,ITGA10:NM_003637:exon15:c.G1867T:p.G623X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WES",".","."]
[21982,25646853,1,156595257,156595257,"A","AAC","DeNovo",".",".","1q22","exonic","GPATCH4",54865,".","frameshift substitution","GPATCH4:NM_015590:exon8:c.1084delinsGTT:p.F362Vfs*90,GPATCH4:NM_182679:exon8:c.1069delinsGTT:p.F357Vfs*90",".",".","rs10637036",0.9983,0.9818,0.9989,1,1,1,0.9945,0.9999,0.994209,".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","CaseStudy",".","ASD","WGS",".","."]
[21985,25646853,2,189805813,189805813,"T","TA","DeNovo",".",".","2q32.2","exonic","PMS1",5378,".","frameshift substitution","PMS1:NM_001321049:exon4:c.477delinsTA:p.L164Vfs*4",".",".","rs3214425",0.2434,0.326,0.2932,0.2704,0.2373,0.2425,0.2186,0.1604,0.215256,".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","CaseStudy",".","ASD","WGS",".","."]
[21991,25646853,4,102502169,102502169,"G","T","DeNovo",".",".","4q24","splicing","NFKB1",4790,"NM_001319226:exon1:UTR5",".",".","Immunodeficiency, common variable, 12, Autosomal dominant",".","rs2272676",".",".",".",".",".",".",".",".",0.244209,".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","CaseStudy",".","ASD","WGS",".","."]
[21995,25646853,5,157294854,157294854,"T","TC","DeNovo",".",".","5q33.3","exonic","CYFIP2",26999,".","frameshift substitution","CYFIP2:NM_001037333:exon4:c.279delinsTC:p.Q95Pfs*15,CYFIP2:NM_001291722:exon4:c.279delinsTC:p.Q95Pfs*15,CYFIP2:NM_014376:exon4:c.279delinsTC:p.Q95Pfs*15",".",".","rs397712438",1,1,1,1,1,1,1,0.9999,1,".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","CaseStudy",".","ASD","WGS",".","."]
[21997,25646853,6,28272154,28272154,"T","TG","DeNovo",".",".","6p22.1","exonic","ZSCAN26",7741,".","frameshift substitution","ZSCAN26:NM_001023560:exon2:c.235delinsTG:p.L80Afs*26,ZSCAN26:NM_001111039:exon2:c.235delinsTG:p.L80Afs*26",".",".",".",0.9995,0.9991,0.9998,0.9998,0.9984,0.9994,1,1,1,".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","CaseStudy",".","ASD","WGS",".","."]
[22002,25646853,7,31658299,31658299,"C","CT","DeNovo",".",".","7p14.3","exonic","CCDC129",223075,".","frameshift substitution","CCDC129:NM_001257968:exon15:c.3096delinsCT:p.S1036Ffs*6",".",".","rs35589779",0.3875,0.3095,0.369,0.4035,".",0.3157,0.3958,0.4139,0.359225,".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","CaseStudy",".","ASD","WGS",".","."]
[22007,25646853,9,110303687,110303687,"C","A","DeNovo",".",".","9q31.3","exonic","TXNDC8",255220,".","stopgain","TXNDC8:NM_001286946:exon5:c.G283T:p.E95X,TXNDC8:NM_001003936:exon6:c.G343T:p.E115X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"N",".",".",".",".",".",".",".",7.473,34,0.968,0.119,"N",".",".",".",".",0.5,0,0.855,0.871,-0.338,0.155,0.003,3.758,"CaseStudy",".","ASD","WGS",".","."]
[22009,25646853,10,47379628,47379628,"A","G","DeNovo",".",".","10q11.22","splicing","ZNF488",118738,"NM_001346934:exon2:UTR5",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","CaseStudy",".","ASD","WGS",".","."]
[22011,25646853,11,46320708,46320708,"A","AG","DeNovo",".",".","11p11.2","splicing","CREB3L1",90993,"NM_052854:exon12:c.1524-2A>AG",".",".",".",".","rs386373761",1,1,1,1,1,1,1,1,0.9998,".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","CaseStudy",".","ASD","WGS",".","."]
[22012,25646853,11,48365649,48365649,"G","A","DeNovo",".",".","11p11.2","exonic","OR4C5",79346,".","stopgain","OR4C5:NM_001348223:exon1:c.C817T:p.R273X",".",".","rs77053100",0.3802,0.4212,0.4192,0.399,0.4833,0.3873,0.4011,0.3471,".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",".",".",".",".",".",".",".",7.368,34,0.926,0.05,"N",".",".",".",".",0.487,0,0.971,-0.741,-0.318,0.945,0.087,10.219,"CaseStudy",".","ASD","WGS",".","."]
[22013,25646853,11,48366348,48366348,"G","A","DeNovo",".",".","11p11.2","exonic","OR4C5",79346,".","stopgain","OR4C5:NM_001348223:exon1:c.C118T:p.Q40X",".",".","rs74338058",0.0826,0.0246,0.0323,0.0103,0.4812,0.0588,0.1613,0.019,".",".",".",".",".",".",".",".",".",".",".",".",0.141,"N",1,"D",".",".",".",".",".",".",".",6.179,28.6,0.997,0.083,"N",".",".",".",".",0.487,0,4.06,-0.061,0.871,0.992,0.005,12.107,"CaseStudy",".","ASD","WGS",".","."]
[22015,25646853,11,67997692,67997692,"A","AG","DeNovo",".",".","11q13.2","exonic","UNC93B1",81622,".","frameshift substitution","UNC93B1:NM_030930:exon7:c.889delinsCT:p.F297Lfs*41",".",".","rs11428176",1,1,1,1,1,1,1,1,1,".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","CaseStudy",".","ASD","WGS",".","."]
[22016,25646853,11,111982381,111982381,"G","GC","DeNovo",".",".","11q23.1","exonic","DIXDC1",85458,".","frameshift substitution","DIXDC1:NM_033425:exon3:c.179delinsGC:p.G62Wfs*44,DIXDC1:NM_001037954:exon7:c.812delinsGC:p.G273Wfs*44",".",".","rs11455434",1,1,1,1,1,1,1,1,1,".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","CaseStudy",".","ASD","WGS",".","."]
[22017,25646853,11,118658334,118658334,"C","CG","DeNovo",".",".","11q23.3","exonic","TREH",11181,".","frameshift substitution","TREH:NM_001301065:exon14:c.1614delinsCG:p.A539Gfs*34,TREH:NM_007180:exon15:c.1707delinsCG:p.A570Gfs*34","Trehalase deficiency",".",".",0.9998,0.9997,1,0.9995,1,0.9999,1,0.9998,0.9998,".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","CaseStudy",".","ASD","WGS",".","."]
[22019,25646853,12,31662268,31662268,"G","A","DeNovo",".",".","12p11.21","splicing","ETFBKMT",254013,"NM_001135864:exon2:c.314+1G>A;NM_173802:exon2:c.314+1G>A;NM_001135863:exon2:c.314+1G>A",".",".",".",".","rs138229541",0.0039,0.0006,0.0042,0,0.0109,0.004,0.0056,0.0041,0.00299521,".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",4.778,24.7,0.995,0.982,"D",".",".",".",".",0.094,0,4.4,0.917,0.935,0.924,0.955,17.168,"CaseStudy",".","ASD","WGS",".","."]
[22025,25646853,16,22148170,22148170,"C","T","DeNovo",".",".","16p12.2","exonic","VWA3A",146177,".","stopgain","VWA3A:NM_173615:exon28:c.C2848T:p.R950X",".","ID=COSM1736544,COSM1736543,COSM1736545;OCCURENCE=1(central_nervous_system)","rs373911433",{"v":7.52e-05,"d":"7.52E-05"},0,0,0.0011,0,0,0,0,0.000399361,".",".",".",".",".",".",".",".",".",".",".",0.003,"N",1,"A",".",".",".",".",".",".",".",13.46,42,0.998,0.734,"D",".",".",".",".",0.487,0,2.88,-0.022,-0.456,0.994,0.952,11.67,"CaseStudy",".","ASD","WGS",".","."]
[22034,25646853,17,75241448,75241448,"G","GC","DeNovo",".",".","17q25.1","exonic","GGA3",23163,".","frameshift substitution","GGA3:NM_001291642:exon7:c.532delinsGC:p.Q178Afs*14,GGA3:NM_001172704:exon9:c.532delinsGC:p.Q178Afs*14,GGA3:NM_014001:exon9:c.799delinsGC:p.Q267Afs*14,GGA3:NM_001172703:exon10:c.682delinsGC:p.Q228Afs*14,GGA3:NM_138619:exon10:c.898delinsGC:p.Q300Afs*14,GGA3:NM_001291641:exon11:c.682delinsGC:p.Q228Afs*14",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","CaseStudy",".","ASD","WGS",".","."]
[22037,25646853,19,7873420,7873420,"A","AG","DeNovo",".",".","19p13.2","exonic","PRR36",80164,".","frameshift substitution","PRR36:NM_001190467:exon2:c.270delinsCT:p.A91Cfs*26",".",".","rs397747741",0.9999,1,1,1,1,1,1,0.9999,0.999601,".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","CaseStudy",".","ASD","WGS",".","."]
[22039,25646853,19,40617187,40617187,"A","AG","DeNovo",".",".","19q13.2","exonic","LTBP4",8425,".","frameshift substitution","LTBP4:NM_001042545:exon21:c.3032delinsAG:p.Y1013Lfs*17,LTBP4:NM_001042544:exon24:c.3233delinsAG:p.Y1080Lfs*17,LTBP4:NM_003573:exon24:c.3122delinsAG:p.Y1043Lfs*17","Cutis laxa, autosomal recessive, type IC, Autosomal recessive",".","rs397728155",1,1,1,1,1,1,1,0.9999,1,".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","CaseStudy",".","ASD","WGS",".","."]
[22040,25646853,19,51332638,51332638,"T","TG","DeNovo",".",".","19q13.41","exonic","VSIG10L",147645,".","frameshift substitution","VSIG10L:NM_001163922:exon10:c.2577delinsCA:p.Q860Tfs*22",".",".","rs11402251",1,1,1,1,1,1,1,1,1,".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","CaseStudy",".","ASD","WGS",".","."]
[22042,25646853,20,49158937,49158937,"A","AC","DeNovo",".",".","20q13.13","splicing","STAU1",6780,"NM_001322931:exon4:c.21+2T>GT;NM_001322928:exon3:c.21+2T>GT",".",".",".",".","rs11480966",0.3927,0.3186,0.3185,0.356,0.436,0.4304,0.3495,0.3724,0.349241,".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","CaseStudy",".","ASD","WGS",".","."]
[22046,25646853,22,19201492,19201492,"A","AC","DeNovo",".",".","22q11.21","exonic","CLTCL1",8218,".","frameshift substitution","CLTCL1:NM_001835:exon23:c.3602delinsGT:p.V1201Gfs*19,CLTCL1:NM_007098:exon23:c.3602delinsGT:p.V1201Gfs*19",".",".","rs11386977",1,0.9999,1,1,1,0.9999,1,0.9999,0.9998,".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","CaseStudy",".","ASD","WGS",".","."]
[22050,25646853,"X",2915564,2915564,"C","T","DeNovo",".",".","Xp22.33","exonic","ARSD",414,".","stopgain","ARSD:NM_001669:exon6:c.G992A:p.W331X,ARSD:NM_009589:exon6:c.G992A:p.W331X",".","ID=COSM1467373;OCCURENCE=2(large_intestine),1(thyroid),1(lung)","rs111939179",1E-4,0,0,0,0,{"v":4.53e-05,"d":"4.53E-05"},0,1E-3,".",".",".",".",".",".",".",".",".",".",".",".",1E-3,"U",0,"P",".",".",".",".",".",".",".",10.474,36,0.99,0.788,"D",".",".",".",".",".",".",3.68,0.666,0.559,0.923,0.747,8.947,"CaseStudy",".","ASD","WGS",".","."]
[22737,28831199,9,69236038,69236038,"-","A","DeNovo",".",".","9q21.11","exonic","TJP2",9414,".","frameshift insertion","TJP2:NM_001170415:exon13:c.1804dupA:p.I602Nfs*17,TJP2:NM_001170416:exon13:c.1885dupA:p.I629Nfs*17,TJP2:NM_004817:exon13:c.1792dupA:p.I598Nfs*17,TJP2:NM_201629:exon13:c.1792dupA:p.I598Nfs*17,TJP2:NM_001170414:exon14:c.1723dupA:p.I575Nfs*17","Cholestasis, progressive familial intrahepatic 4, Autosomal recessive;Hypercholanemia, familial",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased","chinese","ASD","Targeted",".","."]
[22739,28831199,6,47681857,47681857,"C","G","DeNovo",".",".","6p12.3","exonic","ADGRF2",222611,".","stopgain","ADGRF2:NM_153839:exon7:c.C1094G:p.S365X",".",".","rs762523545",{"v":1.66E-5,"d":"1.66E-05"},0,0,0.0002,0,0,0,0,".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",12.257,39,0.995,0.993,"D",".",".",".",".",0.487,0,5.53,0.871,0.892,0.995,0.997,18.448,"FamilyBased","chinese","ASD","Targeted",".","."]
[22743,28831199,15,72289288,72289288,"C","T","DeNovo",".",".","15q23","splicing","CELF6",60677,"NM_052840:exon8:c.881-1G>A;NM_001172684:exon8:c.881-1G>A",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",2.613,20.3,0.979,0.931,"D",".",".",".",".",0.075,0,3.63,-0.008,0.076,2E-3,0.17,9.396,"FamilyBased","chinese","ASD","Targeted",".","."]
[22744,28831199,13,24906817,24906817,"G","-","DeNovo",".",".","13q12.13","exonic","CENPJ",55835,".","frameshift deletion","CENPJ:NM_018451:exon7:c.1221delC:p.E408Rfs*53","Microcephaly 6, primary, autosomal recessive, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased","chinese","ASD","Targeted",".","."]
[22745,28831199,5,75195684,75195684,"C","A","DeNovo",".",".","5q13.3","exonic","ANKRD31",256006,".","stopgain","ANKRD31:NM_001164443:exon7:c.G964T:p.E322X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.09,"N",1,"A",".",".",".",".",".",".",".",6.995,33,0.994,0.091,"N",".",".",".",".",0.5,0,3.41,0.871,0.046,0.034,0.054,7.08,"FamilyBased","chinese","ASD","Targeted",".","."]
[22746,28831199,15,86247800,86247800,"G","-","DeNovo",".",".","15q25.3","exonic","AGBL1",123624,".","frameshift deletion","AGBL1:NM_152336:exon7:c.656delG:p.R219Sfs*46;AGBL1:NM_152336:exon7:c.656delG:p.R219Sfs*46","Corneal dystrophy, Fuchs endothelial, 8, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased","chinese","ASD","Targeted",".","."]
[22748,28831199,5,75105206,75105206,"-","TCTATGGA","DeNovo",".",".","5q13.3","exonic","ANKRD31",256006,".","stopgain","ANKRD31:NM_001164443:exon21:c.4181_4182insTCCATAGA:p.E1394Dfs*3;ANKRD31:NM_001164443:exon21:c.4181_4182insTCCATAGA:p.E1394Dfs*3",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased","chinese","ASD","Targeted",".","."]
[22749,28831199,6,47681857,47681857,"C","G","DeNovo",".",".","6p12.3","exonic","ADGRF2",222611,".","stopgain","ADGRF2:NM_153839:exon7:c.C1094G:p.S365X",".",".","rs762523545",{"v":1.66E-5,"d":"1.66E-05"},0,0,0.0002,0,0,0,0,".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",12.257,39,0.995,0.993,"D",".",".",".",".",0.487,0,5.53,0.871,0.892,0.995,0.997,18.448,"FamilyBased","chinese","ASD","Targeted",".","."]
[22752,28831199,15,86264461,86264461,"-","A","DeNovo",".",".","15q25.3","exonic","AGBL1",123624,".","frameshift insertion","AGBL1:NM_152336:exon11:c.1291dupA:p.N433Kfs*14;AGBL1:NM_152336:exon11:c.1291dupA:p.N433Kfs*14","Corneal dystrophy, Fuchs endothelial, 8, Autosomal dominant","ID=COSM1375167;OCCURENCE=1(large_intestine),1(liver)","rs760873048",1E-4,0.0004,0,0.0008,0,{"v":9.06e-05,"d":"9.06E-05"},0,0,".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased","chinese","ASD","Targeted",".","."]
[22755,28831199,9,131511468,131511468,"G","A","DeNovo",".",".","9q34.13","splicing","POMT1",10585,"NM_007171:exon10:c.1052+1G>A;NM_001136114:exon8:c.635+1G>A;NM_001136113:exon10:c.986+1G>A;NM_001077365:exon10:c.986+1G>A;NM_001077366:exon9:c.824+1G>A",".",".","Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.254,"T",".",".",".",".",".",".",1,"D",".",".",-1.76,"D",0.38,"N",0.1,5.518,26.3,0.996,0.991,"D",0.302,"D",0.658,"D",0.707,0,5.37,0.917,0.949,0.994,1,17.682,"FamilyBased","chinese","ASD","Targeted",".","."]
[22756,28831199,1,52976770,52976770,"G","C","DeNovo",".",".","1p32.3","splicing","SCP2",6342,"NM_001330587:exon8:c.674+1G>C;NM_002979:exon8:c.674+1G>C;NM_001193599:exon7:c.602+1G>C;NM_001193600:exon7:c.542+1G>C;NM_001193617:exon7:c.431+1G>C;NM_001007098:exon7:c.542+1G>C;NM_001330587:exon8:c.674+1G>C;NM_002979:exon8:c.674+1G>C;NM_001193599:exon7:c.602+1G>C;NM_001193600:exon7:c.542+1G>C;NM_001193617:exon7:c.431+1G>C;NM_001007098:exon7:c.542+1G>C",".",".","Leukoencephalopathy with dystonia and motor neuropathy, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",5.621,26.6,0.995,0.099,"N",".",".",".",".",0.294,0,5.79,0.917,0.912,0.998,1,19.644,"FamilyBased","chinese","ASD","Targeted",".","."]
[22757,28831199,9,100240073,100240073,"-","A","DeNovo",".",".","9q31.1","exonic","INVS",27130,".","frameshift insertion","INVS:NM_014425:exon6:c.630dupA:p.E211Rfs*21,INVS:NM_001318381:exon7:c.342dupA:p.E115Rfs*21;INVS:NM_014425:exon6:c.630dupA:p.E211Rfs*21,INVS:NM_001318381:exon7:c.342dupA:p.E115Rfs*21","Nephronophthisis 2, infantile, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased","chinese","ASD","Targeted",".","."]
[22758,28831199,9,69252843,69252843,"T","-","DeNovo",".",".","9q21.11","exonic","TJP2",9414,".","frameshift deletion","TJP2:NM_201629:exon20:c.2909delT:p.I970Tfs*90,TJP2:NM_001170414:exon21:c.2840delT:p.I947Tfs*90,TJP2:NM_001170415:exon21:c.3251delT:p.I1084Tfs*90,TJP2:NM_001170416:exon22:c.3443delT:p.I1148Tfs*90,TJP2:NM_004817:exon22:c.3350delT:p.I1117Tfs*90;TJP2:NM_201629:exon20:c.2909delT:p.I970Tfs*90,TJP2:NM_001170414:exon21:c.2840delT:p.I947Tfs*90,TJP2:NM_001170415:exon21:c.3251delT:p.I1084Tfs*90,TJP2:NM_001170416:exon22:c.3443delT:p.I1148Tfs*90,TJP2:NM_004817:exon22:c.3350delT:p.I1117Tfs*90","Cholestasis, progressive familial intrahepatic 4, Autosomal recessive;Hypercholanemia, familial",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased","chinese","ASD","Targeted",".","."]
[22759,28831199,7,7506051,7506051,"G","-","DeNovo",".",".","7p21.3","exonic","COL28A1",340267,".","frameshift deletion","COL28A1:NM_001037763:exon11:c.989delC:p.P330Qfs*108",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased","chinese","ASD","Targeted",".","."]
[22765,28831199,3,195786418,195786418,"-","G","DeNovo",".",".","3q29","exonic","MUC4",4585,".","frameshift insertion","MUC4:NM_018406:exon2:c.5161_5162insC:p.V1721Afs*3,MUC4:NM_001322468:exon6:c.5161_5162insC:p.D1722*",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased","chinese","ASD","Targeted",".","."]
[22766,28831199,15,74543974,74543974,"-","GC","DeNovo",".",".","15q24.1","exonic","ARID3B",10620,".","frameshift insertion","ARID3B:NM_001307939:exon2:c.38_39insGC:p.Q14Hfs*23,ARID3B:NM_006465:exon2:c.38_39insGC:p.Q14Hfs*23",".",".","rs540147284",{"v":2.91e-05,"d":"2.91E-05"},0,0,0,0,{"v":4.18E-5,"d":"4.18E-05"},0,0,0.00159744,".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased","chinese","ASD","Targeted",".","."]
[22767,28831199,15,74543975,74543975,"-","G","DeNovo",".",".","15q24.1","exonic","ARID3B",10620,".","frameshift insertion","ARID3B:NM_001307939:exon2:c.39_40insG:p.Q14Afs*70,ARID3B:NM_006465:exon2:c.39_40insG:p.Q14Afs*70",".",".","rs529059345",{"v":1.99e-05,"d":"1.99E-05"},0,0,0,0,{"v":3.45e-05,"d":"3.45E-05"},0,0,0.00159744,".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased","chinese","ASD","Targeted",".","."]
[22772,28831199,1,197103440,197103440,"-","G","DeNovo",".",".","1q31.3","exonic","ASPM",259266,".","frameshift insertion","ASPM:NM_018136:exon18:c.5810_5811insC:p.R1938Kfs*9","Microcephaly 5, primary, autosomal recessive, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased","chinese","ASD","Targeted",".","."]
[22775,28831199,16,20959280,20959280,"C","T","DeNovo",".",".","16p12.3","exonic","DNAH3",55567,".","stopgain","DNAH3:NM_001347886:exon54:c.G10587A:p.W3529X,DNAH3:NM_017539:exon54:c.G10725A:p.W3575X",".",".","rs751238068",{"v":8.24e-06,"d":"8.24E-06"},0,{"v":8.64e-05,"d":"8.64E-05"},0,0,0,0,0,".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",16.789,57,0.995,0.984,"D",".",".",".",".",0.487,0,5.41,0.871,0.852,0.998,1,19.219,"FamilyBased","chinese","ASD","Targeted",".","."]
[22776,28831199,3,195786511,195786511,"-","A","DeNovo",".",".","3q29","exonic","MUC4",4585,".","frameshift insertion","MUC4:NM_018406:exon2:c.5068_5069insT:p.T1690Ifs*10,MUC4:NM_001322468:exon6:c.5068_5069insT:p.S1690Mfs*9",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased","chinese","ASD","Targeted",".","."]
[22777,28831199,1,46195816,46195816,"-","A","DeNovo",".",".","1p34.1","exonic","POMGNT1",55624,".","frameshift insertion","POMGNT1:NM_001290129:exon5:c.462dupT:p.V155Cfs*4,POMGNT1:NM_001290130:exon5:c.99dupT:p.V34Cfs*4,POMGNT1:NM_001243766:exon6:c.528dupT:p.V177Cfs*4,POMGNT1:NM_017739:exon6:c.528dupT:p.V177Cfs*4","Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3, Autosomal recessive;Retinitis pigmentosa 76, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased","chinese","ASD","Targeted",".","."]
[22778,28831199,2,110658500,110658500,"G","A","DeNovo",".",".","2q13","exonic","BUB1",699,".","stopgain","BUB1:NM_001278616:exon12:c.C1366T:p.Q456X,BUB1:NM_001278617:exon13:c.C1426T:p.Q476X,BUB1:NM_004336:exon13:c.C1426T:p.Q476X","Colorectal cancer with chromosomal instability, somatic (3)",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",13.291,41,0.999,0.991,"D",".",".",".",".",0.707,0,6.16,0.917,1.048,0.999,0.999,18.354,"FamilyBased","chinese","ASD","Targeted",".","."]
[22789,28831199,6,129401341,129401341,"G","T","DeNovo",".",".","6q22.33","splicing","LAMA2",3908,"NM_000426:exon38:c.5562+1G>T;NM_001079823:exon38:c.5562+1G>T",".",".","Muscular dystrophy, congenital merosin-deficient, Autosomal recessive;Muscular dystrophy, congenital, due to partial LAMA2 deficiency, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",4.085,23.7,0.99,0.994,"D",".",".",".",".",0.061,0,5.43,0.917,0.953,0.984,0.621,19.61,"FamilyBased","chinese","ASD","Targeted",".","."]
[22790,28831199,1,24469156,24469156,"C","T","DeNovo",".",".","1p36.11","exonic","NIPAL3",57185,".","stopgain","NIPAL3:NM_001322860:exon9:c.C709T:p.R237X,NIPAL3:NM_001322861:exon9:c.C709T:p.R237X,NIPAL3:NM_001322859:exon10:c.C709T:p.R237X,NIPAL3:NM_001322868:exon10:c.C1039T:p.R347X,NIPAL3:NM_001322864:exon11:c.C1189T:p.R397X,NIPAL3:NM_001322854:exon12:c.C1192T:p.R398X,NIPAL3:NM_001322857:exon12:c.C1192T:p.R398X,NIPAL3:NM_001322863:exon12:c.C946T:p.R316X,NIPAL3:NM_001322866:exon12:c.C1165T:p.R389X,NIPAL3:NM_020448:exon12:c.C1192T:p.R398X,NIPAL3:NM_001322855:exon13:c.C1192T:p.R398X,NIPAL3:NM_001322856:exon13:c.C1192T:p.R398X,NIPAL3:NM_001322858:exon13:c.C709T:p.R237X,NIPAL3:NM_001322862:exon13:c.C946T:p.R316X",".",".","rs768895500",{"v":8.32E-6,"d":"8.32E-06"},0,0,0,0,{"v":1.51e-05,"d":"1.51E-05"},0,0,".",".",".",".",".",".",".",".",".",".",".",".",0.005,"N",1,"D",".",".",".",".",".",".",".",14.2,45,0.997,0.753,"D",".",".",".",".",0.615,0,4.63,0.871,0.931,1,1,13.081,"FamilyBased","chinese","ASD","Targeted",".","."]
[22794,28831199,19,12899466,12899466,"A","C","DeNovo",".",".","19p13.13","splicing","GCDH",2639,"NM_000159:exon12:c.1244-2A>C",".",".","Glutaricaciduria, type I, Autosomal recessive",".","rs199999619",{"v":7.42e-05,"d":"7.42E-05"},0,0,1E-3,0,0,0,0,1.99681E-4,"Pathogenic","Glutaric_aciduria\\x2c_type_1","RCV000174223.1","MedGen:OMIM:Orphanet:SNOMED_CT:SNOMED_CT","C0268595:231670:ORPHA25:360416003:76175005",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",5.127,25.4,0.995,0.997,"D",".",".",".",".",0.361,0,5.3,1.062,1.083,0.827,0.793,13.49,"FamilyBased","chinese","ASD","Targeted",".","."]
[22797,28831199,15,40770577,40770577,"C","T","DeNovo",".",".","15q15.1","exonic","C15orf62",643338,".","stopgain","C15orf62:NM_001130448:exon1:c.C82T:p.R28X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.053,"N",1,"D",".",".",".",".",".",".",".",10.094,36,0.997,0.379,"N",".",".",".",".",0.646,0,2.1,0.871,-0.439,0.635,0.529,8.489,"FamilyBased","chinese","ASD","Targeted",".","."]
[22803,28831199,5,75105206,75105206,"-","TCTATGGA","DeNovo",".",".","5q13.3","exonic","ANKRD31",256006,".","stopgain","ANKRD31:NM_001164443:exon21:c.4181_4182insTCCATAGA:p.E1394Dfs*3;ANKRD31:NM_001164443:exon21:c.4181_4182insTCCATAGA:p.E1394Dfs*3",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased","chinese","ASD","Targeted",".","."]
[22807,28831199,8,140287661,140287661,"T","-","DeNovo",".",".","8q24.3","exonic","TRAPPC9",83696,".","frameshift deletion","TRAPPC9:NM_001321646:exon12:c.1901delA:p.Y634Sfs*3,TRAPPC9:NM_001160372:exon13:c.1928delA:p.Y643Sfs*3,TRAPPC9:NM_031466:exon13:c.2222delA:p.Y741Sfs*3","Mental retardation, autosomal recessive 13, Autosomal recessive",".","rs779744636",{"v":8.24e-06,"d":"8.24E-06"},0,0,1E-4,0,0,0,0,".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased","chinese","ASD","Targeted",".","."]
[22814,28831199,11,94459583,94459583,"T","C","DeNovo",".",".","11q21","splicing","MRE11",4361,"NM_001330347:exon13:c.1327-2A>G;NM_005591:exon13:c.1327-2A>G;NM_005590:exon13:c.1327-2A>G",".",".","Ataxia-telangiectasia-like disorder, Autosomal recessive","ID=COSM1322070,COSM1322071;OCCURENCE=1(ovary)",".",".",".",".",".",".",".",".",".",".","Likely pathogenic","Hereditary_cancer-predisposing_syndrome","RCV000226518.1","MedGen:SNOMED_CT","C0027672:699346009",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",4.053,23.7,0.995,0.989,"D",".",".",".",".",0.099,0,5.79,0.991,1.011,0.715,0.871,16.125,"FamilyBased","chinese","ASD","Targeted",".","."]
[22817,28831199,3,142542713,142542713,"A","-","DeNovo",".",".","3q23","exonic","ATR",545,".","frameshift deletion","ATR:NM_001184:exon17:c.3402delT:p.F1134Lfs*6","Seckel syndrome 1, Autosomal recessive","ID=COSM1579066;OCCURENCE=1(large_intestine)",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased","chinese","ASD","Targeted",".","."]
[22819,28831199,1,46189552,46189552,"C","-","DeNovo",".",".","1p34.1","exonic","POMGNT1",55624,".","frameshift deletion","POMGNT1:NM_001290129:exon20:c.1735delG:p.D579Tfs*22,POMGNT1:NM_001290130:exon20:c.1372delG:p.D458Tfs*22,POMGNT1:NM_001243766:exon21:c.1801delG:p.D601Tfs*22,POMGNT1:NM_017739:exon21:c.1801delG:p.D601Tfs*22","Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3, Autosomal recessive;Retinitis pigmentosa 76, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased","chinese","ASD","Targeted",".","."]
[22820,28831199,"X",128051861,128051861,"T","-","DeNovo",".",".","Xq25","exonic","ACTRT1",139741,".","frameshift deletion","ACTRT1:NM_138289:exon1:c.346delA:p.R116Gfs*7",".",".","rs776692535",{"v":2.28e-05,"d":"2.28E-05"},0,0,0.0003,0,0,0,0,".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased","chinese","ASD","Targeted",".","."]
[22827,28831199,16,15691167,15691167,"C","T","DeNovo",".",".","16p13.11","exonic","NDE1",54820,".","stopgain","NDE1:NM_017668:exon6:c.C547T:p.Q183X,NDE1:NM_001143979:exon7:c.C547T:p.Q183X","Lissencephaly 4 (with microcephaly), Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",12.343,39,0.998,0.995,"D",".",".",".",".",0.707,0,5.61,0.871,0.932,1,0.988,18.625,"FamilyBased","chinese","ASD","Targeted",".","."]
[22839,28831199,18,23894304,23894304,"-","AA","DeNovo",".",".","18q11.2","exonic","LAMA3",3909,".","frameshift insertion","LAMA3:NM_000227:exon6:c.590_591insAA:p.N198Kfs*21,LAMA3:NM_001127718:exon6:c.590_591insAA:p.N198Kfs*21,LAMA3:NM_001127717:exon43:c.5417_5418insAA:p.N1807Kfs*21,LAMA3:NM_198129:exon43:c.5417_5418insAA:p.N1807Kfs*21","Epidermolysis bullosa, generalized atrophic benign, Autosomal recessive;Epidermolysis bullosa, junctional, Herlitz type, Autosomal recessive;Laryngoonychocutaneous syndrome, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased","chinese","ASD","Targeted",".","."]
[22843,28831199,2,165323303,165323303,"C","T","DeNovo",".",".","2q24.3","exonic","SCN2A",6326,".","stopgain","SCN2A:NM_001040143:exon11:c.C1819T:p.R607X,SCN2A:NM_001040142:exon12:c.C1819T:p.R607X,SCN2A:NM_021007:exon12:c.C1819T:p.R607X","Epileptic encephalopathy, early infantile, 11, Autosomal dominant;Seizures, benign familial infantile, 3, Autosomal dominant",".","rs746060762",{"v":8.25e-06,"d":"8.25E-06"},0,0,0,0,{"v":1.5E-5,"d":"1.50E-05"},0,0,".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",11.056,37,0.997,0.745,"D",".",".",".",".",0.554,0,-0.746,-0.662,0.014,0.969,0.991,18.222,"FamilyBased","chinese","ASD","Targeted",".","."]
[22847,28831199,14,21394106,21394106,"-","T","DeNovo",".",".","14q11.2","exonic","CHD8",57680,".","frameshift insertion","CHD8:NM_001170629:exon31:c.5688dupA:p.R1897Tfs*23,CHD8:NM_020920:exon32:c.4851dupA:p.R1618Tfs*23",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased","chinese","ASD","Targeted",".","."]
[22857,28831199,2,151663724,151663724,"C","A","DeNovo",".",".","2q23.3","exonic","NEB",4703,".","stopgain","NEB:NM_001164507:exon45:c.G5587T:p.E1863X,NEB:NM_001164508:exon45:c.G5587T:p.E1863X,NEB:NM_001271208:exon45:c.G5587T:p.E1863X,NEB:NM_004543:exon45:c.G5587T:p.E1863X","Nemaline myopathy 2, autosomal recessive, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",2E-3,"N",1,"A",".",".",".",".",".",".",".",12.958,40,0.997,0.978,"D",".",".",".",".",0.554,0,5.55,0.871,0.935,0.998,0.96,19.864,"FamilyBased","chinese","ASD","Targeted",".","."]
[22858,28831199,7,7452354,7452354,"G","A","DeNovo",".",".","7p21.3","exonic","COL28A1",340267,".","stopgain","COL28A1:NM_001037763:exon18:c.C1474T:p.R492X",".",".","rs751694131",{"v":8.3e-06,"d":"8.30E-06"},1E-4,0,0,0,0,0,0,".",".",".",".",".",".",".",".",".",".",".",".",0.3,"U",1,"A",".",".",".",".",".",".",".",11.038,37,0.996,0.415,"N",".",".",".",".",0.554,0,1.51,-0.307,0.011,0.773,0.68,8.645,"FamilyBased","chinese","ASD","Targeted",".","."]
[22860,28831199,4,56011947,56011947,"C","T","DeNovo",".",".","4q12","exonic","CEP135",9662,".","stopgain","CEP135:NM_025009:exon21:c.C2764T:p.R922X",".","ID=COSM1430269;OCCURENCE=1(large_intestine)","rs369943972",{"v":8.37e-06,"d":"8.37E-06"},{"v":9.75e-05,"d":"9.75E-05"},0,0,0,0,0,0,".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",14.137,44,0.997,0.912,"D",".",".",".",".",0.732,0,3.81,0.871,0.852,0.998,0.996,14.179,"FamilyBased","chinese","ASD","Targeted",".","."]
[22862,28831199,16,21121943,21121943,"A","G","DeNovo",".",".","16p12.3","splicing","DNAH3",55567,"NM_017539:exon10:c.1584+2T>C;NM_001347886:exon11:c.1497+2T>C",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",4.651,24.5,0.994,0.987,"D",".",".",".",".",0.078,0,5.08,1.062,1.199,0.986,0.998,13.849,"FamilyBased","chinese","ASD","Targeted",".","."]
[22875,28831199,15,73711140,73711140,"C","T","DeNovo",".",".","15q24.1","exonic","CD276",80381,".","stopgain","CD276:NM_001329628:exon7:c.C898T:p.Q300X,CD276:NM_025240:exon7:c.C898T:p.Q300X,CD276:NM_001329629:exon8:c.C1114T:p.Q372X,CD276:NM_001024736:exon9:c.C1552T:p.Q518X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.206,"N",1,"D",".",".",".",".",".",".",".",13.104,41,0.995,0.874,"D",".",".",".",".",0.722,0,3.24,0.871,0.935,0.717,0.995,12.864,"FamilyBased","chinese","ASD","Targeted",".","."]
[22879,28831199,3,382566,382566,"C","T","DeNovo",".",".","3p26.3","exonic;splicing","CHL1;CHL1-AS1","10752;101927193","NR_110739:exon2:c.259+1G>A","nonsynonymous SNV","CHL1:NM_001253388:exon16:c.C2071T:p.P691S,CHL1:NM_001253387:exon17:c.C2023T:p.P675S,CHL1:NM_006614:exon18:c.C2071T:p.P691S",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.45,"T",0,"B",0.003,"B",0.994,"N",1,"N",-0.875,"N",0.68,"T",0.87,"N",0.143,0.216,4.844,0.602,0.014,"N",-1.042,"T",0.031,"T",0.554,0,-9.38,-0.75,-0.216,0.746,0.902,3.76,"FamilyBased","chinese","ASD","Targeted",".","."]
[22884,28831199,19,57397097,57397097,"G","A","DeNovo",".",".","19q13.43","exonic","ZNF548",147694,".","stopgain","ZNF548:NM_152909:exon2:c.G65A:p.W22X,ZNF548:NM_001172773:exon3:c.G101A:p.W34X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"A",".",".",".",".",".",".",".",9.794,36,0.996,0.894,"D",".",".",".",".",0.706,0,2.55,0.697,0.884,0.83,0.998,11.252,"FamilyBased","chinese","ASD","Targeted",".","."]
[22886,28831199,22,50220805,50220805,"C","T","DeNovo",".",".","22q13.33","exonic","TUBGCP6",85378,".","stopgain","TUBGCP6:NM_020461:exon16:c.G3554A:p.W1185X","Microcephaly and chorioretinopathy, autosomal recessive, 1, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.278,"N",1,"A",".",".",".",".",".",".",".",10.555,36,0.988,0.879,"D",".",".",".",".",0.707,0,3.48,0.871,0.033,0.107,0.056,14.753,"FamilyBased","chinese","ASD","Targeted",".","."]
[22904,28831199,1,53211287,53211287,"A","-","DeNovo",".",".","1p32.3","exonic","CPT2",1376,".","frameshift deletion","CPT2:NM_000098:exon4:c.1613delA:p.Y538Sfs*5","CPT II deficiency, infantile, Autosomal recessive;CPT II deficiency, lethal neonatal, Autosomal recessive;CPT II deficiency, myopathic, stress-induced, Autosomal recessive, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased","chinese","ASD","Targeted",".","."]
[22915,28831199,16,20987692,20987692,"C","T","DeNovo",".",".","16p12.3","splicing","DNAH3",55567,"NM_017539:exon46:c.6882+1G>A;NM_001347886:exon46:c.6744+1G>A",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",5.485,26.2,0.995,0.997,"D",".",".",".",".",0.054,0,5.48,0.871,0.892,0.951,0.988,19.356,"FamilyBased","chinese","ASD","Targeted",".","."]
[22923,28831199,4,127889951,127889951,"A","-","DeNovo",".",".","4q28.1","exonic","PLK4",10733,".","frameshift deletion","PLK4:NM_001190799:exon6:c.1449delA:p.N485Mfs*21,PLK4:NM_001190801:exon7:c.1422delA:p.N476Mfs*21,PLK4:NM_014264:exon7:c.1545delA:p.N517Mfs*21","Microcephaly and chorioretinopathy, autosomal recessive, 2, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased","chinese","ASD","Targeted",".","."]
[22924,28831199,8,39629401,39629401,"C","T","DeNovo",".",".","8p11.22","exonic","ADAM18",8749,".","stopgain","ADAM18:NM_001320313:exon7:c.C550T:p.Q184X,ADAM18:NM_014237:exon7:c.C550T:p.Q184X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.049,"N",1,"A",".",".",".",".",".",".",".",9.271,35,0.998,0.042,"N",".",".",".",".",0.487,0,1.93,-0.801,0.913,0.063,0.783,6.335,"FamilyBased","chinese","ASD","Targeted",".","."]
[22926,28831199,10,93062855,93062855,"-","CCTTCCG","DeNovo",".",".","10q23.33","exonic","CYP26C1",340665,".","frameshift insertion","CYP26C1:NM_183374:exon3:c.565_566insCCTTCCG:p.M192Lfs*64","Focal facial dermal dysplasia 4, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased","chinese","ASD","Targeted",".","."]
[22931,28831199,12,123744927,123744927,"-","TGCAAAGG","DeNovo",".",".","12q24.31","exonic","ATP6V0A2",23545,".","frameshift insertion","ATP6V0A2:NM_012463:exon13:c.1560_1561insTGCAAAGG:p.I521Cfs*30","Cutis laxa, autosomal recessive, type IIA, Autosomal recessive;Wrinkly skin syndrome, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased","chinese","ASD","Targeted",".","."]
[22932,28831199,12,123744929,123744929,"T","-","DeNovo",".",".","12q24.31","exonic","ATP6V0A2",23545,".","frameshift deletion","ATP6V0A2:NM_012463:exon13:c.1562delT:p.P522Lfs*26","Cutis laxa, autosomal recessive, type IIA, Autosomal recessive;Wrinkly skin syndrome, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased","chinese","ASD","Targeted",".","."]
[22934,28831199,2,241126721,241126721,"G","A","DeNovo",".",".","2q37.3","exonic","PASK",23178,".","stopgain","PASK:NM_001252119:exon10:c.C2194T:p.Q732X,PASK:NM_001252122:exon10:c.C2089T:p.Q697X,PASK:NM_001252124:exon10:c.C2194T:p.Q732X,PASK:NM_015148:exon10:c.C2194T:p.Q732X,PASK:NM_001252120:exon11:c.C2194T:p.Q732X",".",".","rs770021127",{"v":8.28e-06,"d":"8.28E-06"},0,0,1E-4,0,0,0,0,".",".",".",".",".",".",".",".",".",".",".",".",0.417,"N",1,"A",".",".",".",".",".",".",".",7.898,35,0.995,0.094,"N",".",".",".",".",0.707,0,3.35,0.63,0.953,0.976,0.09,9.967,"FamilyBased","chinese","ASD","Targeted",".","."]
[22937,28831199,15,86247800,86247800,"G","-","DeNovo",".",".","15q25.3","exonic","AGBL1",123624,".","frameshift deletion","AGBL1:NM_152336:exon7:c.656delG:p.R219Sfs*46;AGBL1:NM_152336:exon7:c.656delG:p.R219Sfs*46","Corneal dystrophy, Fuchs endothelial, 8, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased","chinese","ASD","Targeted",".","."]
[22939,28831199,15,86264461,86264461,"-","A","DeNovo",".",".","15q25.3","exonic","AGBL1",123624,".","frameshift insertion","AGBL1:NM_152336:exon11:c.1291dupA:p.N433Kfs*14;AGBL1:NM_152336:exon11:c.1291dupA:p.N433Kfs*14","Corneal dystrophy, Fuchs endothelial, 8, Autosomal dominant","ID=COSM1375167;OCCURENCE=1(large_intestine),1(liver)","rs760873048",1E-4,0.0004,0,0.0008,0,{"v":9.06e-05,"d":"9.06E-05"},0,0,".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased","chinese","ASD","Targeted",".","."]
[22942,28831199,9,100240073,100240073,"-","A","DeNovo",".",".","9q31.1","exonic","INVS",27130,".","frameshift insertion","INVS:NM_014425:exon6:c.630dupA:p.E211Rfs*21,INVS:NM_001318381:exon7:c.342dupA:p.E115Rfs*21;INVS:NM_014425:exon6:c.630dupA:p.E211Rfs*21,INVS:NM_001318381:exon7:c.342dupA:p.E115Rfs*21","Nephronophthisis 2, infantile, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased","chinese","ASD","Targeted",".","."]
[22943,28831199,9,69252843,69252843,"T","-","DeNovo",".",".","9q21.11","exonic","TJP2",9414,".","frameshift deletion","TJP2:NM_201629:exon20:c.2909delT:p.I970Tfs*90,TJP2:NM_001170414:exon21:c.2840delT:p.I947Tfs*90,TJP2:NM_001170415:exon21:c.3251delT:p.I1084Tfs*90,TJP2:NM_001170416:exon22:c.3443delT:p.I1148Tfs*90,TJP2:NM_004817:exon22:c.3350delT:p.I1117Tfs*90;TJP2:NM_201629:exon20:c.2909delT:p.I970Tfs*90,TJP2:NM_001170414:exon21:c.2840delT:p.I947Tfs*90,TJP2:NM_001170415:exon21:c.3251delT:p.I1084Tfs*90,TJP2:NM_001170416:exon22:c.3443delT:p.I1148Tfs*90,TJP2:NM_004817:exon22:c.3350delT:p.I1117Tfs*90","Cholestasis, progressive familial intrahepatic 4, Autosomal recessive;Hypercholanemia, familial",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased","chinese","ASD","Targeted",".","."]
[22950,28831199,20,1228598,1228598,"G","A","DeNovo",".",".","20p13","splicing","RAD21L1",642636,"NM_001136566:exon2:c.144+1G>A",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",5.386,26,0.995,0.985,"D",".",".",".",".",0.066,0,4.88,0.917,1.048,1,1,18.178,"FamilyBased","chinese","ASD","Targeted",".","."]
[22958,28831199,16,20964594,20964594,"-","A","DeNovo",".",".","16p12.3","exonic","DNAH3",55567,".","frameshift insertion","DNAH3:NM_001347886:exon53:c.9151_9152insT:p.K3051Ifs*4,DNAH3:NM_017539:exon53:c.9289_9290insT:p.K3097Ifs*4",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased","chinese","ASD","Targeted",".","."]
[22964,28831199,1,197129275,197129275,"A","-","DeNovo",".",".","1q31.3","exonic","ASPM",259266,".","frameshift deletion","ASPM:NM_001206846:exon9:c.2672delT:p.L891Cfs*44,ASPM:NM_018136:exon9:c.2672delT:p.L891Cfs*44","Microcephaly 5, primary, autosomal recessive, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased","chinese","ASD","Targeted",".","."]
[22966,28831199,15,74543975,74543975,"-","GCAG","DeNovo",".",".","15q24.1","exonic","ARID3B",10620,".","frameshift insertion","ARID3B:NM_001307939:exon2:c.39_40insGCAG:p.Q14Afs*71,ARID3B:NM_006465:exon2:c.39_40insGCAG:p.Q14Afs*71",".",".","rs529059345",0,0,0,0,0,0,0,0,".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased","chinese","ASD","Targeted",".","."]
[22971,28831199,2,241132986,241132986,"G","A","DeNovo",".",".","2q37.3","exonic","PASK",23178,".","stopgain","PASK:NM_001252119:exon9:c.C1351T:p.R451X,PASK:NM_001252122:exon9:c.C1246T:p.R416X,PASK:NM_001252124:exon9:c.C1351T:p.R451X,PASK:NM_015148:exon9:c.C1351T:p.R451X,PASK:NM_001252120:exon10:c.C1351T:p.R451X",".",".","rs140101325",0.0003,{"v":9.62e-05,"d":"9.62E-05"},0.0012,1E-4,0,0.0002,0,0.0005,0.000998403,".",".",".",".",".",".",".",".",".",".",".",0.259,"N",1,"A",".",".",".",".",".",".",".",7.385,34,0.996,0.04,"N",".",".",".",".",0.719,0,1.92,0.63,0.046,2E-3,1E-3,7.685,"FamilyBased","chinese","ASD","Targeted",".","."]
[22973,28831199,5,176656925,176656925,"G","A","DeNovo",".",".","5q35.2","exonic;splicing","TSPAN17;TSPAN17","26262;26262","NM_001006616:exon8:c.777+1G>A","nonsynonymous SNV","TSPAN17:NM_012171:exon8:c.G787A:p.V263M,TSPAN17:NM_130465:exon8:c.G778A:p.V260M",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.141,"T",0.993,"D",0.824,"P",0,"D",1,"D",1.24,"L",2.28,"T",-0.79,"N",0.635,3.737,23.3,0.995,0.98,"D",0.062,"D",0.518,"D",0.758,0,4.8,0.917,0.885,0.999,0.999,16.654,"FamilyBased","chinese","ASD","Targeted",".","."]
[22976,28831199,13,24906718,24906718,"-","AA","DeNovo",".",".","13q12.13","exonic","CENPJ",55835,".","frameshift insertion","CENPJ:NM_018451:exon7:c.1319_1320insTT:p.K440Nfs*22","Microcephaly 6, primary, autosomal recessive, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased","chinese","ASD","Targeted",".","."]
[22977,28831199,11,2168614,2168614,"G","A","DeNovo",".",".","11p15.5","exonic","TH",7054,".","stopgain","TH:NM_000360:exon3:c.C364T:p.R122X,TH:NM_199292:exon4:c.C457T:p.R153X,TH:NM_199293:exon4:c.C445T:p.R149X","Segawa syndrome, recessive, Autosomal recessive",".","rs771610752",{"v":2.81e-05,"d":"2.81E-05"},0,0,0.0004,0,0,0,0,".",".",".",".",".",".",".",".",".",".",".",".",0.505,"U",1,"A",".",".",".",".",".",".",".",5.572,26.4,0.981,0.068,"N",".",".",".",".",0.403,0,0.927,-0.044,-0.03,0.042,0,7.043,"FamilyBased","chinese","ASD","Targeted",".","."]
[22990,28831199,12,40322037,40322037,"C","T","DeNovo",".",".","12q12","exonic","LRRK2",120892,".","stopgain","LRRK2:NM_198578:exon36:c.C5173T:p.R1725X",".","ID=COSM1361450;OCCURENCE=1(large_intestine)","rs11564176",{"v":6.64e-05,"d":"6.64E-05"},0,0.0005,0,0,{"v":1.51e-05,"d":"1.51E-05"},0.0011,0,".","Uncertain significance","Parkinson_disease_8\\x2c_autosomal_dominant","RCV000032478.1","MedGen:OMIM","C1846862:607060",".",".",".",".",".",".",0.003,"N",1,"A",".",".",".",".",".",".",".",13.815,43,0.998,0.92,"D",".",".",".",".",0.554,0,2.38,-0.022,-0.035,0.991,0.997,6.713,"FamilyBased","chinese","ASD","Targeted",".","."]
[22995,28831199,3,30644745,30644745,"A","G","DeNovo",".",".","3p24.1","splicing","TGFBR2",7048,"NM_003242:exon2:c.95-2A>G;NM_001024847:exon3:c.170-2A>G",".",".","Colorectal cancer, hereditary nonpolyposis, type 6;Esophageal cancer, somatic;Loeys-Dietz syndrome 2, Autosomal dominant",".","rs779131465",{"v":2.56e-05,"d":"2.56E-05"},0,0,0.0004,0,0,0,0,".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",3.417,23,0.983,0.968,"D",".",".",".",".",0.122,0,5.36,1.039,1.199,0.855,0.333,13.169,"FamilyBased","chinese","ASD","Targeted",".","."]
[22999,28831199,"X",154031020,154031020,"G","A","DeNovo",".",".","Xq28","exonic","MECP2",4204,".","stopgain","MECP2:NM_001110792:exon3:c.C844T:p.R282X,MECP2:NM_004992:exon4:c.C808T:p.R270X,MECP2:NM_001316337:exon5:c.C529T:p.R177X","Encephalopathy, neonatal severe, X-linked recessive;Mental retardation, X-linked syndromic, Lubs type, X-linked recessive;Mental retardation, X-linked, syndromic 13, X-linked recessive;Rett syndrome, X-linked dominant;Rett syndrome, atypical, X-linked dominant;Rett syndrome, preserved speech variant, X-linked dominant",".","rs61750240",".",".",".",".",".",".",".",".",".","Pathogenic|Pathogenic|Pathogenic|Pathogenic|Pathogenic","Rett_syndrome|not_provided|Encephalopathy\\x2c_neonatal_severeMental_retardation\\x2c_X-linked\\x2c_syndromic_13Rett_syndrome|Severe_neonatal-onset_encephalopathy_with_microcephaly|Mental_retardation\\x2c_X-linked\\x2c_syndromic_13","RCV000012586.23|RCV000081212.8|RCV000146359.1|RCV000169940.1|RCV000178231.1","MedGen:OMIM:Orphanet:SNOMED_CT|MedGen|MedGen|MedGen:OMIM:Orphanet|MedGen:OMIM:Orphanet","C0035372:312750:ORPHA778:68618008|CN221809|CN221284|C1968556:300673:ORPHA209370|C1968550:300055:ORPHA3077",".",".",".",".",".",".",0,"D",1,"D",".",".",".",".",".",".",".",10.587,36,0.997,0.951,"D",".",".",".",".",".",".",3.75,-0.02,0.006,0.996,0.996,12.008,"FamilyBased","chinese","ASD","Targeted",".","."]
[23000,28831199,19,54274739,54274739,"G","A","DeNovo",".",".","19q13.42","exonic","LILRB2",10288,".","stopgain","LILRB2:NM_001278404:exon13:c.C1393T:p.Q465X,LILRB2:NM_001080978:exon14:c.C1738T:p.Q580X,LILRB2:NM_001278403:exon14:c.C1738T:p.Q580X,LILRB2:NM_005874:exon14:c.C1741T:p.Q581X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"N",".",".",".",".",".",".",".",7.775,35,0.927,0.006,"N",".",".",".",".",0.516,0,1.31,0.697,0.719,0.005,0.005,6.172,"FamilyBased","chinese","ASD","Targeted",".","."]
[23007,28831199,17,8340097,8340097,"-","A","DeNovo",".",".","17p13.1","exonic","ODF4",146852,".","frameshift insertion","ODF4:NM_001319953:exon1:c.47dupA:p.R17Kfs*34,ODF4:NM_153007:exon1:c.47dupA:p.R17Kfs*22",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased","chinese","ASD","Targeted",".","."]
[23013,28831199,15,40650380,40650380,"T","C","DeNovo",".",".","15q15.1","splicing","KNL1",57082,"NM_170589:exon19:c.6250+2T>C;NM_144508:exon18:c.6172+2T>C",".",".","Microcephaly 4, primary, autosomal recessive, Autosomal recessive",".","rs781460160",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",4.58,24.4,0.984,0.945,"D",".",".",".",".",0.106,0,4.89,0.991,1.061,0.994,1,12.371,"FamilyBased","chinese","ASD","Targeted",".","."]
[23017,28831199,1,151429633,151429633,"G","A","DeNovo",".",".","1q21.3","exonic","POGZ",23126,".","stopgain","POGZ:NM_207171:exon3:c.C379T:p.Q127X,POGZ:NM_001194938:exon4:c.C379T:p.Q127X,POGZ:NM_001194937:exon5:c.C538T:p.Q180X,POGZ:NM_015100:exon5:c.C538T:p.Q180X","White-Sutton syndrome, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",10.578,36,0.998,0.978,"D",".",".",".",".",0.707,0,4.73,0.917,1.048,1,1,16.448,"FamilyBased","chinese","ASD","Targeted",".","."]
[23018,28831199,7,7373221,7373221,"-","A","DeNovo",".",".","7p21.3","exonic","COL28A1",340267,".","frameshift insertion","COL28A1:NM_001037763:exon32:c.2684dupT:p.V898Sfs*7",".",".","rs753518736",{"v":2.49e-05,"d":"2.49E-05"},0,0,0.0003,0,0,0,0,".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased","chinese","ASD","Targeted",".","."]
[23021,28831199,11,65593446,65593446,"C","A","DeNovo",".",".","11q13.1","exonic","KCNK7",10089,".","stopgain","KCNK7:NM_005714:exon2:c.G748T:p.G250X",".",".","rs748407027",{"v":8.36e-06,"d":"8.36E-06"},0,0,1E-4,0,0,0,0,".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"N",".",".",".",".",".",".",".",0.397,6.59,0.909,0.149,"N",".",".",".",".",0.498,0,-0.435,0.021,-0.687,0.041,1E-3,0.776,"FamilyBased","chinese","ASD","Targeted",".","."]
[23024,28831199,11,94464112,94464112,"C","T","DeNovo",".",".","11q21","splicing","MRE11",4361,"NM_001330347:exon11:c.1225+1G>A;NM_005591:exon11:c.1225+1G>A;NM_005590:exon11:c.1225+1G>A",".",".","Ataxia-telangiectasia-like disorder, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".","Likely pathogenic","Hereditary_cancer-predisposing_syndrome","RCV000214897.1","MedGen:SNOMED_CT","C0027672:699346009",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",5.723,26.9,0.996,0.98,"D",".",".",".",".",0.106,0,4.96,0.871,0.852,0.992,0.986,18.569,"FamilyBased","chinese","ASD","Targeted",".","."]
[23025,28831199,17,44321076,44321076,"G","A","DeNovo",".",".","17q21.31","exonic","SLC25A39",51629,".","stopgain","SLC25A39:NM_001321240:exon7:c.C604T:p.R202X,SLC25A39:NM_001143780:exon8:c.C673T:p.R225X,SLC25A39:NM_001321241:exon8:c.C649T:p.R217X,SLC25A39:NM_016016:exon8:c.C649T:p.R217X",".",".","rs200402073",{"v":2.92e-05,"d":"2.92E-05"},0,0,1E-4,0,{"v":3.46e-05,"d":"3.46E-05"},0,0,1.99681E-4,".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",11.664,38,0.991,0.871,"D",".",".",".",".",0.722,0,2.05,-0.045,1.048,0.976,0.999,9.26,"FamilyBased","chinese","ASD","Targeted",".","."]
[23031,28831199,21,37480767,37480767,"G","T","DeNovo",".",".","21q22.13","exonic","DYRK1A",1859,".","stopgain","DYRK1A:NM_001347723:exon4:c.G343T:p.E115X,DYRK1A:NM_130436:exon4:c.G430T:p.E144X,DYRK1A:NM_130438:exon4:c.G457T:p.E153X,DYRK1A:NM_001347721:exon5:c.G430T:p.E144X,DYRK1A:NM_001347722:exon5:c.G430T:p.E144X,DYRK1A:NM_001396:exon5:c.G457T:p.E153X,DYRK1A:NM_101395:exon6:c.G457T:p.E153X","Mental retardation, autosomal dominant 7, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",13.158,41,0.998,0.991,"D",".",".",".",".",0.707,0,5.24,0.917,0.948,0.997,1,19.198,"FamilyBased","chinese","ASD","Targeted",".","."]
[23034,28831199,1,52976770,52976770,"G","C","DeNovo",".",".","1p32.3","splicing","SCP2",6342,"NM_001330587:exon8:c.674+1G>C;NM_002979:exon8:c.674+1G>C;NM_001193599:exon7:c.602+1G>C;NM_001193600:exon7:c.542+1G>C;NM_001193617:exon7:c.431+1G>C;NM_001007098:exon7:c.542+1G>C;NM_001330587:exon8:c.674+1G>C;NM_002979:exon8:c.674+1G>C;NM_001193599:exon7:c.602+1G>C;NM_001193600:exon7:c.542+1G>C;NM_001193617:exon7:c.431+1G>C;NM_001007098:exon7:c.542+1G>C",".",".","Leukoencephalopathy with dystonia and motor neuropathy, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",5.621,26.6,0.995,0.099,"N",".",".",".",".",0.294,0,5.79,0.917,0.912,0.998,1,19.644,"FamilyBased","chinese","ASD","Targeted",".","."]
[23046,28831199,"X",128051374,128051374,"-","TT","DeNovo",".",".","Xq25","exonic","ACTRT1",139741,".","frameshift insertion","ACTRT1:NM_138289:exon1:c.832_833insAA:p.M278Kfs*8",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased","chinese","ASD","Targeted",".","."]
[23053,28831199,11,67433197,67433197,"-","CGACATGCTCACTGGAT","DeNovo",".",".","11q13.2","exonic","RPS6KB2",6199,".","frameshift insertion","RPS6KB2:NM_003952:exon9:c.779_780insCGACATGCTCACTGGAT:p.P267Tfs*44",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased","chinese","ASD","Targeted",".","."]
[23056,28831199,2,165381150,165381150,"A","-","DeNovo",".",".","2q24.3","exonic","SCN2A",6326,".","frameshift deletion","SCN2A:NM_001040143:exon24:c.4504delA:p.K1503Nfs*26,SCN2A:NM_001040142:exon25:c.4504delA:p.K1503Nfs*26,SCN2A:NM_021007:exon25:c.4504delA:p.K1503Nfs*26","Epileptic encephalopathy, early infantile, 11, Autosomal dominant;Seizures, benign familial infantile, 3, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased","chinese","ASD","Targeted",".","."]
[23059,28831199,14,50729575,50729575,"-","G","DeNovo",".",".","14q22.1","exonic","NIN",51199,".","frameshift insertion","NIN:NM_016350:exon28:c.3886dupC:p.Q1296Pfs*8,NIN:NM_020921:exon29:c.6025dupC:p.Q2009Pfs*8,NIN:NM_182944:exon29:c.6025dupC:p.Q2009Pfs*8,NIN:NM_182946:exon29:c.6025dupC:p.Q2009Pfs*8",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased","chinese","ASD","Targeted",".","."]
[23062,28831199,2,74552595,74552595,"-","C","DeNovo",".",".","2p13.1","exonic","LOXL3",84695,".","frameshift insertion","LOXL3:NM_001289164:exon2:c.39dupG:p.L14Afs*21,LOXL3:NM_032603:exon2:c.39dupG:p.L14Afs*21",".",".","rs748974376",{"v":3.41e-05,"d":"3.41E-05"},0,0,0.0005,0,0,0,0,".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased","chinese","ASD","Targeted",".","."]
[23063,28831199,13,24912616,24912616,"G","-","DeNovo",".",".","13q12.13","exonic","CENPJ",55835,".","frameshift deletion","CENPJ:NM_018451:exon2:c.410delC:p.A137Vfs*13","Microcephaly 6, primary, autosomal recessive, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased","chinese","ASD","Targeted",".","."]
[23069,28831199,16,88805439,88805439,"G","A","DeNovo",".",".","16q24.3","splicing","CDT1",81620,"NM_030928:exon4:c.489-1G>A",".",".","Meier-Gorlin syndrome 4, Autosomal recessive",".","rs779758670",{"v":8.57e-06,"d":"8.57E-06"},0,0,1E-4,0,0,0,0,".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",1.77,14.81,0.904,0.93,"D",".",".",".",".",0.123,0,3.05,0.63,1.048,0.641,0.003,8.927,"FamilyBased","chinese","ASD","Targeted",".","."]
[23072,28831199,"X",154465812,154465812,"A","T","DeNovo",".",".","Xq28","exonic","PLXNA3",55558,".","stopgain","PLXNA3:NM_017514:exon13:c.A2497T:p.K833X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",11.794,38,0.995,0.814,"D",".",".",".",".",".",".",3.82,1.062,1.194,0.959,0.978,9.195,"FamilyBased","chinese","ASD","Targeted",".","."]
[23078,28831199,3,134547333,134547333,"A","G","DeNovo",".",".","3q22.2","splicing","CEP63",80254,"NM_001042400:exon9:c.930-2A>G;NM_025180:exon10:c.930-2A>G",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",2.74,21,0.919,0.979,"D",".",".",".",".",0.156,0,4.98,1.062,1.199,0.025,0.025,14.296,"FamilyBased","chinese","ASD","Targeted",".","."]
[23080,28831199,18,23022189,23022189,"C","T","DeNovo",".",".","18q11.2","exonic","RBBP8",5932,".","stopgain","RBBP8:NM_002894:exon18:c.C2515T:p.R839X,RBBP8:NM_203291:exon18:c.C2515T:p.R839X","Jawad syndrome, Autosomal recessive;Pancreatic carcinoma, somatic (3);Seckel syndrome 2, Autosomal recessive","ID=COSM3712642,COSM3712643;OCCURENCE=1(upper_aerodigestive_tract)",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",14.556,46,0.998,0.879,"D",".",".",".",".",0.745,0,5.05,0.791,0.035,1,0.964,13.848,"FamilyBased","chinese","ASD","Targeted",".","."]
[23084,28831199,18,55254694,55254694,"G","A","DeNovo",".",".","18q21.2","exonic","TCF4",6925,".","stopgain","TCF4:NM_001243234:exon8:c.C673T:p.R225X,TCF4:NM_001243235:exon8:c.C673T:p.R225X,TCF4:NM_001243236:exon8:c.C673T:p.R225X,TCF4:NM_001348214:exon8:c.C670T:p.R224X,TCF4:NM_001348215:exon8:c.C505T:p.R169X,TCF4:NM_001348216:exon8:c.C673T:p.R225X,TCF4:NM_001330605:exon10:c.C763T:p.R255X,TCF4:NM_001243232:exon11:c.C940T:p.R314X,TCF4:NM_001243233:exon11:c.C763T:p.R255X,TCF4:NM_001306208:exon11:c.C940T:p.R314X,TCF4:NM_001348212:exon11:c.C763T:p.R255X,TCF4:NM_001348213:exon11:c.C763T:p.R255X,TCF4:NM_001243231:exon13:c.C1027T:p.R343X,TCF4:NM_001348211:exon13:c.C1027T:p.R343X,TCF4:NM_001243227:exon14:c.C1081T:p.R361X,TCF4:NM_001243230:exon14:c.C1144T:p.R382X,TCF4:NM_001306207:exon14:c.C1081T:p.R361X,TCF4:NM_001348217:exon14:c.C1081T:p.R361X,TCF4:NM_001348218:exon14:c.C1081T:p.R361X,TCF4:NM_001348219:exon14:c.C1081T:p.R361X,TCF4:NM_001348220:exon14:c.C1078T:p.R360X,TCF4:NM_001083962:exon15:c.C1153T:p.R385X,TCF4:NM_001243228:exon15:c.C1171T:p.R391X,TCF4:NM_001330604:exon15:c.C1150T:p.R384X,TCF4:NM_003199:exon15:c.C1153T:p.R385X,TCF4:NM_001243226:exon16:c.C1459T:p.R487X","Corneal dystrophy, Fuchs endothelial, 3, Autosomal dominant;Pitt-Hopkins syndrome, Autosomal dominant",".","rs121909122",".",".",".",".",".",".",".",".",".","Pathogenic|Pathogenic","Pitt-Hopkins_syndrome|not_provided","RCV000007797.4|RCV000255339.1","MedGen:OMIM:Orphanet|MedGen","C1970431:610954:ORPHA2896|CN221809",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",14.564,46,0.998,0.988,"D",".",".",".",".",0.722,0,5.62,0.917,0.998,1,1,18.428,"FamilyBased","chinese","ASD","Targeted",".","."]
[23085,28831199,7,7489458,7489458,"C","T","DeNovo",".",".","7p21.3","splicing","COL28A1",340267,"NM_001037763:exon13:c.1096-1G>A",".",".",".",".","rs768202073",{"v":8.43e-06,"d":"8.43E-06"},0,0,1E-4,0,0,0,0,".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",5.007,25.1,0.994,0.951,"D",".",".",".",".",0.054,0,4.46,0.598,0.852,0.909,0.963,12.833,"FamilyBased","chinese","ASD","Targeted",".","."]
[23094,28831199,15,73704411,73704411,"C","G","DeNovo",".",".","15q24.1","exonic","CD276",80381,".","stopgain","CD276:NM_001329628:exon4:c.C654G:p.Y218X,CD276:NM_025240:exon4:c.C654G:p.Y218X,CD276:NM_001329629:exon5:c.C870G:p.Y290X,CD276:NM_001024736:exon6:c.C1308G:p.Y436X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",12.283,39,0.995,0.928,"D",".",".",".",".",0.707,0,3.14,0.033,0.925,0.998,1,11.012,"FamilyBased","chinese","ASD","Targeted",".","."]
[23104,28831199,21,41834535,41834535,"-","C","DeNovo",".",".","21q22.3","exonic","PRDM15",63977,".","frameshift insertion","PRDM15:NM_001282934:exon12:c.1506dupG:p.P503Afs*7",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased","chinese","ASD","Targeted",".","."]
[23109,28831199,8,99720973,99720973,"C","T","DeNovo",".",".","8q22.2","exonic","VPS13B",157680,".","stopgain","VPS13B:NM_017890:exon39:c.C7051T:p.R2351X,VPS13B:NM_152564:exon39:c.C6976T:p.R2326X","Cohen syndrome, Autosomal recessive",".","rs120074150",{"v":8.24e-06,"d":"8.24E-06"},0,0,0,0,0,0,{"v":6.06e-05,"d":"6.06E-05"},".","Pathogenic","Cohen_syndrome","RCV000002954.3","MedGen:OMIM:Orphanet:SNOMED_CT","C0265223:216550:ORPHA193:56604005",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",13.775,43,0.998,0.865,"D",".",".",".",".",0.638,0,5.14,0.871,0.935,0.998,0.998,13.4,"FamilyBased","chinese","ASD","Targeted",".","."]
[23113,28831199,17,8144754,8144754,"G","A","DeNovo",".",".","17p13.1","exonic","PER1",5187,".","stopgain","PER1:NM_002616:exon18:c.C2458T:p.R820X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.138,"N",1,"A",".",".",".",".",".",".",".",11.956,38,0.998,0.747,"D",".",".",".",".",0.672,0,3.63,0.917,0.953,0.391,0.912,10.401,"FamilyBased","chinese","ASD","Targeted",".","."]
[23119,28831199,5,75105124,75105124,"-","T","DeNovo",".",".","5q13.3","exonic","ANKRD31",256006,".","frameshift insertion","ANKRD31:NM_001164443:exon21:c.4263dupA:p.Q1422Tfs*12",".",".","rs530301594",0.0003,0,3.3E-3,0,0,0.0003,0,0.0003,0.000599042,".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased","chinese","ASD","Targeted",".","."]
[23126,28831199,20,1229882,1229882,"-","A","DeNovo",".",".","20p13","exonic","RAD21L1",642636,".","frameshift insertion","RAD21L1:NM_001136566:exon3:c.148dupA:p.I51Nfs*18",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased","chinese","ASD","Targeted",".","."]
[23128,28831199,1,239909213,239909213,"C","T","DeNovo",".",".","1q43","exonic","CHRM3",1131,".","stopgain","CHRM3:NM_000740:exon5:c.C1762T:p.Q588X,CHRM3:NM_001347716:exon8:c.C1762T:p.Q588X",".",".","rs764058084",{"v":9.02E-6,"d":"9.02E-06"},0,0,1E-4,0,0,0,0,".",".",".",".",".",".",".",".",".",".",".",".",0.111,"N",0.944,"D",".",".",".",".",".",".",".",12.06,38,0.996,0.944,"D",".",".",".",".",0.615,0,4.55,-0.064,0.935,0.101,0.578,10.392,"FamilyBased","chinese","ASD","Targeted",".","."]
[23132,28831199,10,24596775,24596775,"G","A","DeNovo",".",".","10p12.1","exonic","ARHGAP21",57584,".","stopgain","ARHGAP21:NM_020824:exon17:c.C3442T:p.R1148X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",11.008,37,0.996,0.882,"D",".",".",".",".",0.563,0,0.441,0.038,0.067,0.92,0.678,15.27,"FamilyBased","chinese","ASD","Targeted",".","."]
[23133,28831199,3,377831,377831,"G","T","DeNovo",".",".","3p26.3","exonic","CHL1",10752,".","stopgain","CHL1:NM_001253388:exon14:c.G1765T:p.G589X,CHL1:NM_001253387:exon15:c.G1717T:p.G573X,CHL1:NM_006614:exon16:c.G1765T:p.G589X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.017,"N",1,"A",".",".",".",".",".",".",".",14.288,45,0.992,0.942,"D",".",".",".",".",0.487,0,4.82,0.866,1.048,0.98,0.997,9.387,"FamilyBased","chinese","ASD","Targeted",".","."]
[23135,28831199,6,129154684,129154684,"G","A","DeNovo",".",".","6q22.33","splicing","LAMA2",3908,"NM_000426:exon8:c.1206+1G>A;NM_001079823:exon8:c.1206+1G>A",".",".","Muscular dystrophy, congenital merosin-deficient, Autosomal recessive;Muscular dystrophy, congenital, due to partial LAMA2 deficiency, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",5.597,26.5,0.995,0.997,"D",".",".",".",".",0.054,0,6.06,0.917,1.048,0.995,0.973,20.223,"FamilyBased","chinese","ASD","Targeted",".","."]
[23137,28831199,2,151636226,151636226,"C","T","DeNovo",".",".","2q23.3","splicing","NEB",4703,"NM_001164507:exon64:c.9102+1G>A;NM_001271208:exon64:c.9102+1G>A;NM_001164508:exon64:c.9102+1G>A",".",".","Nemaline myopathy 2, autosomal recessive, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",5.108,25.3,0.991,0.993,"D",".",".",".",".",0.054,0,5.96,0.871,0.935,0.79,0.103,19.172,"FamilyBased","chinese","ASD","Targeted",".","."]
[23141,28831199,10,128115387,128115387,"C","-","DeNovo",".",".","10q26.2","exonic","MKI67",4288,".","frameshift deletion","MKI67:NM_002417:exon7:c.1021delG:p.E341Sfs*5",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased","chinese","ASD","Targeted",".","."]
[23149,28831199,20,58853609,58853609,"G","A","DeNovo",".",".","20q13.32","exonic","GNAS",2778,".","stopgain","GNAS:NM_080425:exon1:c.G344A:p.W115X","ACTH-independent macronodular adrenal hyperplasia, Isolated cases;Acromegaly, somatic;McCune-Albright syndrome, somatic, mosaic;Osseous heteroplasia, progressive, Autosomal dominant;Pseudohypoparathyroidism Ia, Autosomal dominant;Pseudohypoparathyroidism Ib, Autosomal dominant;Pseudohypoparathyroidism Ic, Autosomal dominant;Pseudopseudohypoparathyroidism, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",".",".",".",".",".",".",1,"A",".",".",".",".",-0.85,"N",".",10.233,36,0.995,0.667,"D",-0.279,"T",0.361,"T",0.765,0,4.73,0.069,1.048,0.98,0.985,13.911,"FamilyBased","chinese","ASD","Targeted",".","."]
[23156,28831199,11,2167434,2167434,"C","G","DeNovo",".",".","11p15.5","splicing","TH",7054,"NM_000360:exon6:c.695+1G>C;NM_199293:exon7:c.776+1G>C;NM_199292:exon7:c.788+1G>C",".",".","Segawa syndrome, recessive, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",3.873,23.5,0.991,0.99,"D",".",".",".",".",0.096,0,3.4,0.871,0.796,0.672,0.907,14.182,"FamilyBased","chinese","ASD","Targeted",".","."]
[23159,28831199,11,71444871,71444871,"G","A","DeNovo",".",".","11q13.4","exonic","DHCR7",1717,".","stopgain","DHCR7:NM_001163817:exon3:c.C82T:p.Q28X,DHCR7:NM_001360:exon3:c.C82T:p.Q28X","Smith-Lemli-Opitz syndrome, Autosomal recessive",".","rs756564881",{"v":8.24e-06,"d":"8.24E-06"},0,0,0,0,{"v":1.5E-5,"d":"1.50E-05"},0,0,".","Likely pathogenic","Smith-Lemli-Opitz_syndrome","RCV000411258.1","MedGen:OMIM:SNOMED_CT","C0175694:270400:43929004",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",11.032,37,0.998,0.959,"D",".",".",".",".",0.707,0,4.06,0.63,1.048,0.935,0.892,14.536,"FamilyBased","chinese","ASD","Targeted",".","."]
[23160,28831199,17,40769006,40769006,"C","A","DeNovo",".",".","17q21.2","exonic","KRT26",353288,".","stopgain","KRT26:NM_181539:exon6:c.G1060T:p.E354X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.754,"N",1,"A",".",".",".",".",".",".",".",9.976,36,0.995,0.756,"D",".",".",".",".",0.497,0,4.78,0.871,0.852,0.853,0.064,13.627,"FamilyBased","chinese","ASD","Targeted",".","."]
[23164,28831199,17,8143736,8143736,"A","-","DeNovo",".",".","17p13.1","exonic","PER1",5187,".","frameshift deletion","PER1:NM_002616:exon19:c.2602delT:p.W868Gfs*48",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased","chinese","ASD","Targeted",".","."]
[23168,28831199,9,2077678,2077678,"A","-","DeNovo",".",".","9p24.3","exonic","SMARCA2",6595,".","frameshift deletion","SMARCA2:NM_001289396:exon14:c.2086delA:p.R696Gfs*24,SMARCA2:NM_001289397:exon14:c.2086delA:p.R696Gfs*24,SMARCA2:NM_003070:exon14:c.2086delA:p.R696Gfs*24,SMARCA2:NM_139045:exon14:c.2086delA:p.R696Gfs*24","Nicolaides-Baraitser syndrome, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased","chinese","ASD","Targeted",".","."]
[23169,28831199,1,53210522,53210522,"C","-","DeNovo",".",".","1p32.3","exonic","CPT2",1376,".","frameshift deletion","CPT2:NM_000098:exon4:c.848delC:p.E285Sfs*7,CPT2:NM_001330589:exon4:c.848delC:p.E285Sfs*7","CPT II deficiency, infantile, Autosomal recessive;CPT II deficiency, lethal neonatal, Autosomal recessive;CPT II deficiency, myopathic, stress-induced, Autosomal recessive, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".","Pathogenic","not_provided","RCV000413363.1","MedGen","CN221809",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased","chinese","ASD","Targeted",".","."]
[23170,28831199,22,29490043,29490043,"-","C","DeNovo",".",".","22q12.2","exonic","NEFH",4744,".","frameshift insertion","NEFH:NM_021076:exon4:c.2404dupC:p.L803Pfs*9","Charcot-Marie-Tooth disease, axonal, type 2CC, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased","chinese","ASD","Targeted",".","."]
[23176,28831199,7,108066443,108066443,"A","-","DeNovo",".",".","7q31.1","exonic","LAMB4",22798,".","frameshift deletion","LAMB4:NM_001318046:exon20:c.2604delT:p.F868Lfs*69,LAMB4:NM_001318047:exon20:c.2604delT:p.F868Lfs*69,LAMB4:NM_007356:exon20:c.2604delT:p.F868Lfs*69",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased","chinese","ASD","Targeted",".","."]
[23177,28831199,16,89649456,89649456,"G","A","DeNovo",".",".","16q24.3","exonic","CHMP1A",5119,".","stopgain","CHMP1A:NM_001083314:exon3:c.C127T:p.R43X","Pontocerebellar hypoplasia, type 8, Autosomal recessive",".","rs200606123",0.0002,1E-4,0,0.0009,0.0002,{"v":6.05E-5,"d":"6.05E-05"},0.0011,0.0003,".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased","chinese","ASD","Targeted",".","."]
[23179,28831199,21,41867345,41867345,"G","A","DeNovo",".",".","21q22.3","exonic","PRDM15",63977,".","stopgain","PRDM15:NM_022115:exon5:c.C574T:p.Q192X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"A",".",".",".",".",".",".",".",4.357,24.1,0.981,2E-3,"N",".",".",".",".",0.601,0,-1.37,0.15,0.368,0.016,0.004,".","FamilyBased","chinese","ASD","Targeted",".","."]
[23181,28831199,4,151282154,151282154,"G","A","DeNovo",".",".","4q31.3","exonic","PRSS48",345062,".","stopgain","PRSS48:NM_183375:exon3:c.G222A:p.W74X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.005,"N",1,"A",".",".",".",".",".",".",".",7.646,35,0.985,0.069,"N",".",".",".",".",0.447,0,3.06,0.63,0.912,0.007,0.227,8.338,"FamilyBased","chinese","ASD","Targeted",".","."]
[23182,28831199,7,93105638,93105638,"G","A","DeNovo",".",".","7q21.2","exonic","SAMD9",54809,".","stopgain","SAMD9:NM_001193307:exon2:c.C460T:p.Q154X,SAMD9:NM_017654:exon3:c.C460T:p.Q154X","MIRAGE syndrome, Autosomal dominant;Tumoral calcinosis, familial, normophosphatemic, Autosomal recessive",".","rs767558735",{"v":8.24e-06,"d":"8.24E-06"},0,0,1E-4,0,0,0,0,".",".",".",".",".",".",".",".",".",".",".",".",0.249,"N",1,"D",".",".",".",".",".",".",".",6.123,28.3,0.998,0.179,"N",".",".",".",".",0.719,0,3.2,0.868,0.864,0.01,0.032,10.405,"FamilyBased","chinese","ASD","Targeted",".","."]
[23187,28831199,11,4577773,4577773,"C","-","DeNovo",".",".","11p15.4","exonic","C11orf40",143501,".","frameshift deletion","C11orf40:NM_144663:exon1:c.48delG:p.S17Pfs*26",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased","chinese","ASD","Targeted",".","."]
[23189,28831199,8,140458405,140458405,"-","C","DeNovo",".",".","8q24.3","exonic","TRAPPC9",83696,".","frameshift insertion","TRAPPC9:NM_031466:exon1:c.159dupG:p.S54Efs*7","Mental retardation, autosomal recessive 13, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased","chinese","ASD","Targeted",".","."]
[23193,28831199,17,7924428,7924428,"-","C","DeNovo",".",".","17p13.1","exonic","KCNAB3",9196,".","frameshift insertion","KCNAB3:NM_004732:exon9:c.697dupG:p.A233Gfs*22",".",".","rs778909909",{"v":4.15e-05,"d":"4.15E-05"},0,0,0.0005,0,{"v":1.51e-05,"d":"1.51E-05"},0,0,".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased","chinese","ASD","Targeted",".","."]
[23194,28831199,2,74533890,74533890,"C","-","DeNovo",".",".","2p13.1","exonic","LOXL3",84695,".","frameshift deletion","LOXL3:NM_001289165:exon9:c.1097delG:p.C366Sfs*39,LOXL3:NM_001289164:exon11:c.1745delG:p.C582Sfs*39,LOXL3:NM_032603:exon13:c.2180delG:p.C727Sfs*39",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased","chinese","ASD","Targeted",".","."]
[23198,28831199,7,7437393,7437393,"C","A","DeNovo",".",".","7p21.3","splicing","COL28A1",340267,"NM_001037763:exon22:c.1791+1G>T",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",5.361,25.9,0.992,0.848,"D",".",".",".",".",0.081,0,4.68,0.598,0.935,0.994,0.979,13.297,"FamilyBased","chinese","ASD","Targeted",".","."]
[23199,28831199,5,128261765,128261765,"T","-","DeNovo",".",".","5q23.3","exonic","FBN2",2201,".","frameshift deletion","FBN2:NM_001999:exon64:c.8335delA:p.R2779Efs*16","Contractural arachnodactyly, congenital, Autosomal dominant;Macular degeneration, early-onset, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased","chinese","ASD","Targeted",".","."]
[23201,28831199,12,40309150,40309150,"C","T","DeNovo",".",".","12q12","exonic","LRRK2",120892,".","stopgain","LRRK2:NM_198578:exon30:c.C4234T:p.R1412X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",11.538,37,0.997,0.231,"N",".",".",".",".",0.554,0,0.463,-0.022,-0.035,0.98,0.975,16.39,"FamilyBased","chinese","ASD","Targeted",".","."]
[23204,28831199,16,21097422,21097422,"T","-","DeNovo",".",".","16p12.3","exonic","DNAH3",55567,".","frameshift deletion","DNAH3:NM_001347886:exon18:c.2460delA:p.V821Yfs*21,DNAH3:NM_017539:exon18:c.2598delA:p.V867Yfs*21",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased","chinese","ASD","Targeted",".","."]
[23205,28831199,3,52523042,52523042,"C","T","DeNovo",".",".","3p21.1","exonic","STAB1",23166,".","stopgain","STAB1:NM_015136:exon63:c.C6928T:p.R2310X",".",".","rs770663213",{"v":1.82e-05,"d":"1.82E-05"},0,0,0,0,{"v":3.17e-05,"d":"3.17E-05"},0,0,".",".",".",".",".",".",".",".",".",".",".",".",0.007,"N",1,"A",".",".",".",".",".",".",".",12.696,40,0.992,0.125,"N",".",".",".",".",0.672,0,4.86,0.871,0.852,0.422,0.027,13.825,"FamilyBased","chinese","ASD","Targeted",".","."]
[23207,28831199,19,54274726,54274726,"-","A","DeNovo",".",".","19q13.42","exonic","LILRB2",10288,".","frameshift insertion","LILRB2:NM_001278404:exon13:c.1405_1406insT:p.P469Lfs*4,LILRB2:NM_001080978:exon14:c.1750_1751insT:p.P584Lfs*4,LILRB2:NM_001278403:exon14:c.1750_1751insT:p.P584Lfs*4,LILRB2:NM_005874:exon14:c.1753_1754insT:p.P585Lfs*4",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased","chinese","ASD","Targeted",".","."]
[23208,28831199,19,54274733,54274733,"T","-","DeNovo",".",".","19q13.42","exonic","LILRB2",10288,".","frameshift deletion","LILRB2:NM_001278404:exon13:c.1399delA:p.R467Gfs*67,LILRB2:NM_001080978:exon14:c.1744delA:p.R582Gfs*67,LILRB2:NM_001278403:exon14:c.1744delA:p.R582Gfs*67,LILRB2:NM_005874:exon14:c.1747delA:p.E584Nfs*66",".",".","rs745907042",{"v":1.65e-05,"d":"1.65E-05"},0,0,0,0.0002,0,0,{"v":6.09e-05,"d":"6.09E-05"},".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased","chinese","ASD","Targeted",".","."]
[23210,28831199,18,23873159,23873159,"C","T","DeNovo",".",".","18q11.2","exonic","LAMA3",3909,".","stopgain","LAMA3:NM_000227:exon1:c.C115T:p.Q39X,LAMA3:NM_001127718:exon1:c.C115T:p.Q39X","Epidermolysis bullosa, generalized atrophic benign, Autosomal recessive;Epidermolysis bullosa, junctional, Herlitz type, Autosomal recessive;Laryngoonychocutaneous syndrome, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"A",".",".",".",".",".",".",".",2.04,16.47,0.997,0.762,"D",".",".",".",".",0.616,0,4.82,0.791,0.935,0.89,0.979,8.675,"FamilyBased","chinese","ASD","Targeted",".","."]
[23212,28831199,5,620075,620075,"-","G","DeNovo",".",".","5p15.33","exonic","CEP72",55722,".","frameshift insertion","CEP72:NM_018140:exon3:c.217_218insG:p.Q73Rfs*45",".",".","rs748002761",{"v":6.65e-05,"d":"6.65E-05"},0,0,0.0006,0,{"v":4.52e-05,"d":"4.52E-05"},0,0,".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased","chinese","ASD","Targeted",".","."]
[23213,28831199,5,620076,620076,"-","AT","DeNovo",".",".","5p15.33","exonic","CEP72",55722,".","frameshift insertion","CEP72:NM_018140:exon3:c.218_219insAT:p.Y74Cfs*3",".",".","rs769591661",{"v":6.65e-05,"d":"6.65E-05"},0,0,0.0006,0,{"v":4.51e-05,"d":"4.51E-05"},0,0,".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased","chinese","ASD","Targeted",".","."]
[23214,28831199,14,22778838,22778838,"C","T","DeNovo",".",".","14q11.2","exonic","SLC7A7",9056,".","stopgain","SLC7A7:NM_001126105:exon5:c.G725A:p.W242X,SLC7A7:NM_001126106:exon5:c.G725A:p.W242X","Lysinuric protein intolerance, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",13.806,43,0.998,0.969,"D",".",".",".",".",0.646,0,5.41,0.871,0.852,0.999,1,17.97,"FamilyBased","chinese","ASD","Targeted",".","."]
[23215,28831199,8,39637262,39637262,"A","G","DeNovo",".",".","8p11.22","splicing","ADAM18",8749,"NM_014237:exon8:c.589-2A>G",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",4.6,24.4,0.99,0.923,"D",".",".",".",".",0.061,0,5.11,1.062,1.18,0.998,0.998,11.259,"FamilyBased","chinese","ASD","Targeted",".","."]
[23216,28831199,11,65595597,65595597,"G","-","DeNovo",".",".","11q13.1","exonic","KCNK7",10089,".","frameshift deletion","KCNK7:NM_005714:exon1:c.176delC:p.P59Hfs*76,KCNK7:NM_033347:exon1:c.176delC:p.P59Hfs*76,KCNK7:NM_033348:exon1:c.176delC:p.P59Hfs*76,KCNK7:NM_033455:exon1:c.176delC:p.P59Hfs*76",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased","chinese","ASD","Targeted",".","."]
[23217,28831199,16,27773209,27773209,"A","-","DeNovo",".",".","16p12.1","exonic","KIAA0556",23247,".","frameshift deletion","KIAA0556:NM_015202:exon23:c.4309delA:p.N1437Ifs*9",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased","chinese","ASD","Targeted",".","."]
[23218,28831199,11,64827351,64827351,"G","A","DeNovo",".",".","11q13.1","exonic","CDC42BPG",55561,".","stopgain","CDC42BPG:NM_017525:exon33:c.C4198T:p.Q1400X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1E-3,"D",1,"A",".",".",".",".",".",".",".",13.922,44,0.998,0.962,"D",".",".",".",".",0.718,0,4.82,0.917,1.048,1,1,15.805,"FamilyBased","chinese","ASD","Targeted",".","."]
[23220,28831199,4,5631842,5631842,"A","-","DeNovo",".",".","4p16.2","exonic","EVC2",132884,".","stopgain","EVC2:NM_001166136:exon11:c.1421delT:p.L474*,EVC2:NM_147127:exon11:c.1661delT:p.L554*","Ellis-van Creveld syndrome, Autosomal recessive;Weyers acrofacial dysostosis, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased","chinese","ASD","Targeted",".","."]
[23223,28831199,11,65593446,65593446,"C","A","DeNovo",".",".","11q13.1","exonic","KCNK7",10089,".","stopgain","KCNK7:NM_005714:exon2:c.G748T:p.G250X",".",".","rs748407027",{"v":8.36e-06,"d":"8.36E-06"},0,0,1E-4,0,0,0,0,".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"N",".",".",".",".",".",".",".",0.397,6.59,0.909,0.149,"N",".",".",".",".",0.498,0,-0.435,0.021,-0.687,0.041,1E-3,0.776,"FamilyBased","chinese","ASD","Targeted",".","."]
[23226,28831199,4,165333604,165333604,"-","A","DeNovo",".",".","4q32.3","exonic","MSMO1",6307,".","frameshift insertion","MSMO1:NM_006745:exon2:c.235dupA:p.Y81Ifs*7","Microcephaly, congenital cataract, and psoriasiform dermatitis, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased","chinese","ASD","Targeted",".","."]
[23227,28831199,3,52514756,52514756,"C","A","DeNovo",".",".","3p21.1","exonic","STAB1",23166,".","stopgain","STAB1:NM_015136:exon35:c.C3734A:p.S1245X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.068,"N",1,"A",".",".",".",".",".",".",".",11.329,37,0.996,0.413,"N",".",".",".",".",0.672,0,4.74,0.033,0.935,0,0.432,6.597,"FamilyBased","chinese","ASD","Targeted",".","."]
[25468,22914163,2,50236893,50236893,"G","A","DeNovo",".",".","2p16.3","exonic","NRXN1",9378,".","stopgain","NRXN1:NM_001330091:exon2:c.C337T:p.R113X,NRXN1:NM_001330092:exon2:c.C337T:p.R113X,NRXN1:NM_001330097:exon2:c.C337T:p.R113X,NRXN1:NM_138735:exon2:c.C337T:p.R113X,NRXN1:NM_001330087:exon13:c.C3331T:p.R1111X,NRXN1:NM_001330096:exon13:c.C3331T:p.R1111X,NRXN1:NM_001330083:exon14:c.C3376T:p.R1126X,NRXN1:NM_001330084:exon14:c.C3376T:p.R1126X,NRXN1:NM_001330088:exon14:c.C3361T:p.R1121X,NRXN1:NM_001330095:exon16:c.C3391T:p.R1131X,NRXN1:NM_001330077:exon17:c.C3418T:p.R1140X,NRXN1:NM_001330082:exon17:c.C3418T:p.R1140X,NRXN1:NM_001330085:exon17:c.C3415T:p.R1139X,NRXN1:NM_001330094:exon17:c.C3430T:p.R1144X,NRXN1:NM_001330078:exon18:c.C3442T:p.R1148X,NRXN1:NM_001330086:exon18:c.C3442T:p.R1148X,NRXN1:NM_001330093:exon18:c.C3439T:p.R1147X,NRXN1:NM_004801:exon18:c.C3442T:p.R1148X,NRXN1:NM_001135659:exon19:c.C3562T:p.R1188X","Pitt-Hopkins-like syndrome 2, Autosomal recessive",".","rs774740761",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"U",1,"A",".",".",".",".",".",".",".",13.955,44,0.998,0.925,"D",".",".",".",".",0.693,0,2.44,0.917,0.953,1,1,13.913,"FamilyBased&CaseControl","icelandic","ASD","WGS",".","."]
[25750,22914163,2,224497824,224497824,"G","A","DeNovo",".",".","2q36.2","exonic","CUL3",8452,".","stopgain","CUL3:NM_001257197:exon11:c.C1438T:p.R480X,CUL3:NM_001257198:exon12:c.C1654T:p.R552X,CUL3:NM_003590:exon12:c.C1636T:p.R546X","Pseudohypoaldosteronism, type IIE, Autosomal dominant",".","rs767240461",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",13.53,42,0.997,0.969,"D",".",".",".",".",0.732,0,6.16,0.917,1.048,0.999,1,20.86,"FamilyBased&CaseControl","icelandic","ASD","WGS",".","."]
[28205,29162653,10,129963415,129963415,"G","-","DeNovo",".",".","10q26.3","exonic","EBF3",253738,".","frameshift deletion","EBF3:NM_001005463:exon2:c.243delG:p.V82Wfs*50","Hypotonia, ataxia, and delayed development syndrome, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased&CaseReport",".","DD and/or ID and/or autism","WES",24,"F"]
[28207,29162653,10,129957327,129957327,"G","A","DeNovo",".",".","10q26.3","splicing","EBF3",253738,"NM_001005463:exon6:c.486-1C>T",".",".","Hypotonia, ataxia, and delayed development syndrome, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",4.985,25.1,0.994,0.976,"D",".",".",".",".",0.096,0,5.95,0.871,0.935,1,1,20.393,"FamilyBased&CaseReport",".","DD and/or ID and/or autism","WES",11,"F"]
[28211,24531329,20,50892215,50892218,"TTTA","-","DeNovo",".",".","20q13.13","exonic","ADNP",23394,".","frameshift deletion","ADNP:NM_001282532:exon4:c.2496_2499del:p.N832Kfs*81,ADNP:NM_181442:exon4:c.2496_2499del:p.N832Kfs*81,ADNP:NM_001347511:exon5:c.2496_2499del:p.N832Kfs*81,ADNP:NM_015339:exon5:c.2496_2499del:p.N832Kfs*81,ADNP:NM_001282531:exon6:c.2496_2499del:p.N832Kfs*81","Helsmoortel-van der Aa syndrome, Autosomal dominant",".","rs587777523",".",".",".",".",".",".",".",".",".","Pathogenic|Pathogenic","Helsmoortel-van_der_aa_syndrome|not_provided","RCV000128575.5|RCV000255626.1","MedGen:OMIM|MedGen","CN189714:615873|CN221809",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","CaseReport","Antwerp","ASD","WES",".","."]
[28212,24531329,20,50893503,50893503,"G","T","DeNovo",".",".","20q13.13","exonic","ADNP",23394,".","stopgain","ADNP:NM_001282532:exon4:c.C1211A:p.S404X,ADNP:NM_181442:exon4:c.C1211A:p.S404X,ADNP:NM_001347511:exon5:c.C1211A:p.S404X,ADNP:NM_015339:exon5:c.C1211A:p.S404X,ADNP:NM_001282531:exon6:c.C1211A:p.S404X","Helsmoortel-van der Aa syndrome, Autosomal dominant",".","rs587777524",".",".",".",".",".",".",".",".",".","Pathogenic","Helsmoortel-van_der_aa_syndrome","RCV000128576.4","MedGen:OMIM","CN189714:615873",".",".",".",".",".",".",1E-3,"D",1,"D",".",".",".",".",".",".",".",11.02,37,0.993,0.969,"D",".",".",".",".",0.722,0,6.17,0.917,0.884,0.976,0.937,15.581,"CaseReport","Nijmegen","ASD","WES",".","."]
[28213,24531329,20,50893491,50893492,"TT","-","DeNovo",".",".","20q13.13","exonic","ADNP",23394,".","frameshift deletion","ADNP:NM_001282532:exon4:c.1222_1223del:p.K408Vfs*31,ADNP:NM_181442:exon4:c.1222_1223del:p.K408Vfs*31,ADNP:NM_001347511:exon5:c.1222_1223del:p.K408Vfs*31,ADNP:NM_015339:exon5:c.1222_1223del:p.K408Vfs*31,ADNP:NM_001282531:exon6:c.1222_1223del:p.K408Vfs*31","Helsmoortel-van der Aa syndrome, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","CaseReport","Seattle","ASD","WES",".","."]
[28214,24531329,20,50892549,50892561,"ATTTGCTCGTAAG","-","DeNovo",".",".","20q13.13","exonic","ADNP",23394,".","frameshift deletion","ADNP:NM_001282532:exon4:c.2153_2165del:p.T718Rfs*6,ADNP:NM_181442:exon4:c.2153_2165del:p.T718Rfs*6,ADNP:NM_001347511:exon5:c.2153_2165del:p.T718Rfs*6,ADNP:NM_015339:exon5:c.2153_2165del:p.T718Rfs*6,ADNP:NM_001282531:exon6:c.2153_2165del:p.T718Rfs*6","Helsmoortel-van der Aa syndrome, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","CaseReport","Westmead","ASD","WES",".","."]
[28215,24531329,20,50892557,50892557,"G","C","DeNovo",".",".","20q13.13","exonic","ADNP",23394,".","stopgain","ADNP:NM_001282532:exon4:c.C2157G:p.Y719X,ADNP:NM_181442:exon4:c.C2157G:p.Y719X,ADNP:NM_001347511:exon5:c.C2157G:p.Y719X,ADNP:NM_015339:exon5:c.C2157G:p.Y719X,ADNP:NM_001282531:exon6:c.C2157G:p.Y719X","Helsmoortel-van der Aa syndrome, Autosomal dominant",".","rs587777526",".",".",".",".",".",".",".",".",".","Pathogenic|Pathogenic","Helsmoortel-van_der_aa_syndrome|Inborn_genetic_diseases","RCV000128578.5|RCV000190684.1","MedGen:OMIM|MeSH:MedGen","CN189714:615873|D030342:C0950123",".",".",".",".",".",".",0,"D",1,"D",".",".",".",".",".",".",".",2.921,21.9,0.858,0.288,"N",".",".",".",".",0.707,0,-12.1,0.125,-1.637,0.998,0.968,23.3,"CaseReport","Stockholm","ASD","WES",".","."]
[28216,24531329,20,50892220,50892223,"TTAA","-","DeNovo",".",".","20q13.13","exonic","ADNP",23394,".","frameshift deletion","ADNP:NM_001282532:exon4:c.2491_2494del:p.L831Ifs*82,ADNP:NM_181442:exon4:c.2491_2494del:p.L831Ifs*82,ADNP:NM_001347511:exon5:c.2491_2494del:p.L831Ifs*82,ADNP:NM_015339:exon5:c.2491_2494del:p.L831Ifs*82,ADNP:NM_001282531:exon6:c.2491_2494del:p.L831Ifs*82;ADNP:NM_001282532:exon4:c.2491_2494del:p.L831Ifs*82,ADNP:NM_181442:exon4:c.2491_2494del:p.L831Ifs*82,ADNP:NM_001347511:exon5:c.2491_2494del:p.L831Ifs*82,ADNP:NM_015339:exon5:c.2491_2494del:p.L831Ifs*82,ADNP:NM_001282531:exon6:c.2491_2494del:p.L831Ifs*82","Helsmoortel-van der Aa syndrome, Autosomal dominant",".","rs587777522",".",".",".",".",".",".",".",".",".","Pathogenic","Helsmoortel-van_der_aa_syndrome","RCV000128574.4","MedGen:OMIM","CN189714:615873",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","CaseReport","Antwerp","ASD","HRM",".","."]
[28217,24531329,20,50891906,50891906,"G","-","DeNovo",".",".","20q13.13","exonic","ADNP",23394,".","stopgain","ADNP:NM_001282532:exon4:c.2808delC:p.Y936*,ADNP:NM_181442:exon4:c.2808delC:p.Y936*,ADNP:NM_001347511:exon5:c.2808delC:p.Y936*,ADNP:NM_015339:exon5:c.2808delC:p.Y936*,ADNP:NM_001282531:exon6:c.2808delC:p.Y936*","Helsmoortel-van der Aa syndrome, Autosomal dominant",".","rs587777525",".",".",".",".",".",".",".",".",".","Pathogenic","Helsmoortel-van_der_aa_syndrome","RCV000128577.4","MedGen:OMIM","CN189714:615873",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","CaseReport","Nijmegen","ASD","MIPs",".","."]
[28218,24531329,20,50892220,50892223,"TTAA","-","DeNovo",".",".","20q13.13","exonic","ADNP",23394,".","frameshift deletion","ADNP:NM_001282532:exon4:c.2491_2494del:p.L831Ifs*82,ADNP:NM_181442:exon4:c.2491_2494del:p.L831Ifs*82,ADNP:NM_001347511:exon5:c.2491_2494del:p.L831Ifs*82,ADNP:NM_015339:exon5:c.2491_2494del:p.L831Ifs*82,ADNP:NM_001282531:exon6:c.2491_2494del:p.L831Ifs*82;ADNP:NM_001282532:exon4:c.2491_2494del:p.L831Ifs*82,ADNP:NM_181442:exon4:c.2491_2494del:p.L831Ifs*82,ADNP:NM_001347511:exon5:c.2491_2494del:p.L831Ifs*82,ADNP:NM_015339:exon5:c.2491_2494del:p.L831Ifs*82,ADNP:NM_001282531:exon6:c.2491_2494del:p.L831Ifs*82","Helsmoortel-van der Aa syndrome, Autosomal dominant",".","rs587777522",".",".",".",".",".",".",".",".",".","Pathogenic","Helsmoortel-van_der_aa_syndrome","RCV000128574.4","MedGen:OMIM","CN189714:615873",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","CaseReport","Troina","ASD","MIPs",".","."]
[28574,28263302,4,169704077,169704079,"CAA","CAAA","DeNovo",".",".","4q33","exonic","CLCN3",1182,".","frameshift substitution","CLCN3:NM_001243372:exon9:c.1562_1564CAAA:p.L521Pfs*12,CLCN3:NM_001243374:exon9:c.1562_1564CAAA:p.L521Pfs*12,CLCN3:NM_001829:exon10:c.1643_1645CAAA:p.L548Pfs*12,CLCN3:NM_173872:exon10:c.1643_1645CAAA:p.L548Pfs*12",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WGS",".","."]
[28980,28263302,6,29630645,29630645,"G","GATC","DeNovo",".",".","6p22.1","splicing","GABBR1",2550,"NM_001319053:exon4:UTR5NM_001470:exon4:c.290-2C>GATC",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WGS",".","."]
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[30419,28263302,15,98969652,98969663,"ACTCACACGGCG","A","DeNovo",".",".","15q26.3","splicing","PGPEP1L",145814,".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WGS",".","."]
[30662,28263302,19,10558062,10558062,"C","T","DeNovo",".",".","19p13.2","splicing","KRI1",65095,"NM_023008:exon14:c.1289-2G>A",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WGS",".","."]
[31436,28263302,2,233841871,233841885,"CAGAGAGAGAGAGAG","CAGAGAGAGAGAG","DeNovo",".",".","2q37.1","exonic","HJURP",55355,".","frameshift substitution","HJURP:NM_001282963:exon5:c.640_654CTCTCTCTCTCTG:p.H214Lfs*30,HJURP:NM_001282962:exon6:c.733_747CTCTCTCTCTCTG:p.H245Lfs*30,HJURP:NM_018410:exon8:c.895_909CTCTCTCTCTCTG:p.H299Lfs*30",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WGS",".","."]
[31491,28263302,11,563318,563318,"G","A","DeNovo",".",".","11p15.5","exonic;splicing","RASSF7;RASSF7","8045;8045","NM_001143994:exon4:c.951+1G>A;NM_003475:exon4:c.951+1G>A","nonsynonymous SNV","RASSF7:NM_001143993:exon4:c.G952A:p.V318I",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.195,"T",0.998,"D",0.886,"P",".",".",1,"D",0,"N",1.47,"T",-0.31,"N",0.169,3.408,23,0.987,0.895,"D",-1.062,"T",0.071,"T",0.651,0,3.24,0.917,0.953,0.304,0.165,11.763,"FamilyBased",".","ASD","WGS",".","."]
[32068,28263302,"X",64337266,64337266,"C","T","DeNovo",".",".","Xq11.2","splicing","MTMR8",55613,"NM_017677:exon9:c.1101+2G>A",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",3.945,23.6,0.982,0.97,"D",".",".",".",".",".",".",2.66,0.679,0.756,0.987,0.949,9.319,"FamilyBased",".","ASD","WGS",".","."]
[32236,28263302,2,205400994,205401011,"CAGAGAGAGAGAGAGAGA","CAGAGAGAGAGAGAGA","DeNovo",".",".","2q33.3","splicing","PARD3B",117583,".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WGS",".","."]
[32418,28263302,19,14841281,14841281,"A","ATCTTC","DeNovo",".",".","19p13.12","exonic","OR7A10",390892,".","frameshift substitution","OR7A10:NM_001005190:exon1:c.597delinsGAAGAT:p.Y200Kfs*6;OR7A10:NM_001005190:exon1:c.597delinsGAAGAT:p.Y200Kfs*6;OR7A10:NM_001005190:exon1:c.597delinsGAAGAT:p.Y200Kfs*6",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WGS",".","."]
[32610,28263302,18,57020774,57020779,"CAAAAG","C","DeNovo",".",".","18q21.31","exonic","WDR7",23335,".","frameshift substitution","WDR7:NM_052834:exon26:c.4095_4100C:p.A1366Gfs*5,WDR7:NM_015285:exon27:c.4194_4199C:p.A1399Gfs*5",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WGS",".","."]
[33069,28263302,17,41438136,41438136,"C","A","DeNovo",".",".","17q21.2","exonic","KRT38",8687,".","stopgain","KRT38:NM_006771:exon6:c.G1198T:p.E400X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",".",".",".",".",".",".",".",13.55,42,0.997,0.99,"D",".",".",".",".",0.497,0,4.63,0.871,0.935,0.985,0.8,16.643,"FamilyBased",".","ASD","WGS",".","."]
[33152,28263302,17,41467211,41467211,"T","TTGTGGGC","DeNovo",".",".","17q21.2","exonic","KRT32",3882,".","frameshift substitution","KRT32:NM_002278:exon1:c.115delinsGCCCACAA:p.Y39Afs*60;KRT32:NM_002278:exon1:c.115delinsGCCCACAA:p.Y39Afs*60;KRT32:NM_002278:exon1:c.115delinsGCCCACAA:p.Y39Afs*60;KRT32:NM_002278:exon1:c.115delinsGCCCACAA:p.Y39Afs*60;KRT32:NM_002278:exon1:c.115delinsGCCCACAA:p.Y39Afs*60;KRT32:NM_002278:exon1:c.115delinsGCCCACAA:p.Y39Afs*60;KRT32:NM_002278:exon1:c.115delinsGCCCACAA:p.Y39Afs*60;KRT32:NM_002278:exon1:c.115delinsGCCCACAA:p.Y39Afs*60",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WGS",".","."]
[33164,28263302,1,77722076,77722077,"GA","G","DeNovo",".",".","1p31.1","exonic","USP33",23032,".","frameshift substitution","USP33:NM_201624:exon13:c.1509_1510C:p.E504Kfs*9,USP33:NM_015017:exon14:c.1602_1603C:p.E535Kfs*9,USP33:NM_201626:exon14:c.1602_1603C:p.E535Kfs*9",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WGS",".","."]
[33841,28263302,11,8230419,8230419,"C","CAT","DeNovo",".",".","11p15.4","exonic","LMO1",4004,".","frameshift substitution","LMO1:NM_001270428:exon2:c.108delinsATG:p.K37*,LMO1:NM_002315:exon2:c.111delinsATG:p.K38*","Leukemia, T-cell acute lymphoblastic",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WGS",".","."]
[34433,28263302,3,183508208,183508208,"G","GACAGACTTTA","DeNovo",".",".","3q27.1","exonic","KLHL6",89857,".","frameshift substitution","KLHL6:NM_130446:exon3:c.760delinsTAAAGTCTGTC:p.L254*;KLHL6:NM_130446:exon3:c.760delinsTAAAGTCTGTC:p.L254*;KLHL6:NM_130446:exon3:c.760delinsTAAAGTCTGTC:p.L254*;KLHL6:NM_130446:exon3:c.760delinsTAAAGTCTGTC:p.L254*;KLHL6:NM_130446:exon3:c.760delinsTAAAGTCTGTC:p.L254*;KLHL6:NM_130446:exon3:c.760delinsTAAAGTCTGTC:p.L254*;KLHL6:NM_130446:exon3:c.760delinsTAAAGTCTGTC:p.L254*;KLHL6:NM_130446:exon3:c.760delinsTAAAGTCTGTC:p.L254*;KLHL6:NM_130446:exon3:c.760delinsTAAAGTCTGTC:p.L254*",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WGS",".","."]
[34854,28263302,19,14841253,14841253,"T","TCCCTTCC","DeNovo",".",".","19p13.12","exonic","OR7A10",390892,".","frameshift substitution","OR7A10:NM_001005190:exon1:c.625delinsGGAAGGGA:p.P210Rfs*13;OR7A10:NM_001005190:exon1:c.625delinsGGAAGGGA:p.P210Rfs*13",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WGS",".","."]
[35394,28263302,17,41438136,41438136,"C","A","DeNovo",".",".","17q21.2","exonic","KRT38",8687,".","stopgain","KRT38:NM_006771:exon6:c.G1198T:p.E400X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",".",".",".",".",".",".",".",13.55,42,0.997,0.99,"D",".",".",".",".",0.497,0,4.63,0.871,0.935,0.985,0.8,16.643,"FamilyBased",".","ASD","WGS",".","."]
[35507,28263302,17,41438136,41438136,"C","A","DeNovo",".",".","17q21.2","exonic","KRT38",8687,".","stopgain","KRT38:NM_006771:exon6:c.G1198T:p.E400X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",".",".",".",".",".",".",".",13.55,42,0.997,0.99,"D",".",".",".",".",0.497,0,4.63,0.871,0.935,0.985,0.8,16.643,"FamilyBased",".","ASD","WGS",".","."]
[37227,28263302,3,183508208,183508208,"G","GACAGACTTTA","DeNovo",".",".","3q27.1","exonic","KLHL6",89857,".","frameshift substitution","KLHL6:NM_130446:exon3:c.760delinsTAAAGTCTGTC:p.L254*;KLHL6:NM_130446:exon3:c.760delinsTAAAGTCTGTC:p.L254*;KLHL6:NM_130446:exon3:c.760delinsTAAAGTCTGTC:p.L254*;KLHL6:NM_130446:exon3:c.760delinsTAAAGTCTGTC:p.L254*;KLHL6:NM_130446:exon3:c.760delinsTAAAGTCTGTC:p.L254*;KLHL6:NM_130446:exon3:c.760delinsTAAAGTCTGTC:p.L254*;KLHL6:NM_130446:exon3:c.760delinsTAAAGTCTGTC:p.L254*;KLHL6:NM_130446:exon3:c.760delinsTAAAGTCTGTC:p.L254*;KLHL6:NM_130446:exon3:c.760delinsTAAAGTCTGTC:p.L254*",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WGS",".","."]
[37282,28263302,14,75063563,75063563,"G","A","DeNovo",".",".","14q24.3","splicing","ACYP1",97,"NM_001107:exon2:UTR5NM_001302617:exon2:c.83-2C>T;NM_001302616:exon2:UTR5",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",4.058,23.7,0.899,0.907,"D",".",".",".",".",0.097,0,4.17,0.991,1.061,0.985,0.997,6.683,"FamilyBased",".","ASD","WGS",".","."]
[37323,28263302,3,183508208,183508208,"G","GACAGACTTTA","DeNovo",".",".","3q27.1","exonic","KLHL6",89857,".","frameshift substitution","KLHL6:NM_130446:exon3:c.760delinsTAAAGTCTGTC:p.L254*;KLHL6:NM_130446:exon3:c.760delinsTAAAGTCTGTC:p.L254*;KLHL6:NM_130446:exon3:c.760delinsTAAAGTCTGTC:p.L254*;KLHL6:NM_130446:exon3:c.760delinsTAAAGTCTGTC:p.L254*;KLHL6:NM_130446:exon3:c.760delinsTAAAGTCTGTC:p.L254*;KLHL6:NM_130446:exon3:c.760delinsTAAAGTCTGTC:p.L254*;KLHL6:NM_130446:exon3:c.760delinsTAAAGTCTGTC:p.L254*;KLHL6:NM_130446:exon3:c.760delinsTAAAGTCTGTC:p.L254*;KLHL6:NM_130446:exon3:c.760delinsTAAAGTCTGTC:p.L254*",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WGS",".","."]
[37776,28263302,17,46305534,46305550,"TGAGAGAGAGAGAGAGA","TGAGAGAGAGAGAGA","DeNovo",".",".","17q21.31","exonic","LRRC37A",9884,".","frameshift substitution","LRRC37A:NM_014834:exon4:c.2779_2795TGAGAGAGAGAGAGA:p.S927*",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WGS",".","."]
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[38127,28263302,2,134987843,134987843,"A","AGGAGGTGG","DeNovo",".",".","2q21.3","exonic","MAP3K19",80122,".","frameshift substitution","MAP3K19:NM_001018044:exon5:c.690delinsCCACCTCCT:p.V231Hfs*36,MAP3K19:NM_001321177:exon7:c.1080delinsCCACCTCCT:p.V361Hfs*36,MAP3K19:NM_025052:exon7:c.1029delinsCCACCTCCT:p.V344Hfs*36",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WGS",".","."]
[38289,28263302,6,29462177,29462188,"GCAAGGAGTAGA","G","DeNovo",".",".","6p22.1","exonic","OR2H1",26716,".","frameshift substitution","OR2H1:NM_001318014:exon4:c.408_419G:p.R137Afs*34,OR2H1:NM_001318022:exon4:c.408_419G:p.R137Afs*34,OR2H1:NM_030883:exon4:c.408_419G:p.R137Afs*34",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WGS",".","."]
[38474,28263302,"X",40701245,40701249,"CAGAG","CAG","DeNovo",".",".","Xp11.4","splicing","MED14",9282,".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WGS",".","."]
[38558,28263302,12,50005347,50005347,"A","AC","DeNovo",".",".","12q13.12","exonic","RACGAP1",29127,".","frameshift substitution","RACGAP1:NM_001320005:exon3:c.160delinsGT:p.S54Vfs*36,RACGAP1:NM_001320007:exon3:c.112delinsGT:p.S38Vfs*36,RACGAP1:NM_001126104:exon4:c.334delinsGT:p.S112Vfs*36,RACGAP1:NM_001319999:exon4:c.334delinsGT:p.S112Vfs*36,RACGAP1:NM_001320001:exon4:c.334delinsGT:p.S112Vfs*36,RACGAP1:NM_001320002:exon4:c.334delinsGT:p.S112Vfs*36,RACGAP1:NM_001320003:exon4:c.334delinsGT:p.S112Vfs*36,RACGAP1:NM_001320004:exon4:c.334delinsGT:p.S112Vfs*36,RACGAP1:NM_001320000:exon5:c.334delinsGT:p.S112Vfs*36,RACGAP1:NM_001320006:exon5:c.370delinsGT:p.S124Vfs*36,RACGAP1:NM_001126103:exon6:c.334delinsGT:p.S112Vfs*36,RACGAP1:NM_013277:exon6:c.334delinsGT:p.S112Vfs*36",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WGS",".","."]
[39189,28263302,14,61450907,61450912,"ATTATT","A","DeNovo",".",".","14q23.1","exonic","PRKCH",5583,".","frameshift substitution","PRKCH:NM_006255:exon6:c.768_773A:p.T257Lfs*19",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WGS",".","."]
[39208,28263302,21,43417716,43417716,"A","AAAAAAAC","DeNovo",".",".","21q22.3","exonic","LOC102724428;SIK1","NA;150094",".","frameshift substitution","LOC102724428:NM_001320643:exon13:c.1803delinsGTTTTTTT:p.L602Ffs*91,SIK1:NM_173354:exon13:c.1803delinsGTTTTTTT:p.L602Ffs*91",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WGS",".","."]
[39795,28263302,17,42720293,42720304,"CATGAGAACATA","C","DeNovo",".",".","17q21.2","exonic","EZH1",2145,".","frameshift substitution","EZH1:NM_001321079:exon6:c.651_662G:p.T218Kfs*6,EZH1:NM_001321082:exon6:c.513_524G:p.T172Kfs*6,EZH1:NM_001321081:exon7:c.606_617G:p.T203Kfs*6,EZH1:NM_001991:exon7:c.633_644G:p.T212Kfs*6",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WGS",".","."]
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[84662,28263302,3,156120847,156120847,"G","GA","DeNovo",".",".","3q25.31","exonic","KCNAB1",7881,".","frameshift substitution","KCNAB1:NM_001308217:exon1:c.236delinsGA:p.S79Rfs*41,KCNAB1:NM_172160:exon1:c.236delinsGA:p.S79Rfs*41",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WGS",".","."]
[84933,28263302,2,137056655,137056655,"C","CTT","DeNovo",".",".","2q22.1","exonic","THSD7B",80731,".","frameshift substitution","THSD7B:NM_001316349:exon3:c.375delinsCTT:p.K125Nfs*9",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WGS",".","."]
[85259,28263302,11,1884014,1884014,"A","ACCTCCCCTGGGTGACCTTACCTCCCCTAGGTAATCTCG","DeNovo",".",".","11p15.5","exonic","LSP1",4046,".","frameshift substitution","LSP1:NM_001013253:exon5:c.395delinsACCTCCCCTGGGTGACCTTACCTCCCCTAGGTAATCTCG:p.P132Hfs*25,LSP1:NM_001013254:exon5:c.395delinsACCTCCCCTGGGTGACCTTACCTCCCCTAGGTAATCTCG:p.P132Hfs*25,LSP1:NM_001013255:exon5:c.395delinsACCTCCCCTGGGTGACCTTACCTCCCCTAGGTAATCTCG:p.P132Hfs*25,LSP1:NM_001289005:exon5:c.395delinsACCTCCCCTGGGTGACCTTACCTCCCCTAGGTAATCTCG:p.P132Hfs*25,LSP1:NM_002339:exon5:c.581delinsACCTCCCCTGGGTGACCTTACCTCCCCTAGGTAATCTCG:p.P194Hfs*25,LSP1:NM_001242932:exon6:c.965delinsACCTCCCCTGGGTGACCTTACCTCCCCTAGGTAATCTCG:p.P322Hfs*25",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WGS",".","."]
[85429,28263302,12,50005361,50005361,"A","AAACTTCATAATTG","DeNovo",".",".","12q13.12","exonic","RACGAP1",29127,".","frameshift substitution","RACGAP1:NM_001320005:exon3:c.146delinsCAATTATGAAGTTT:p.L49Pfs*8,RACGAP1:NM_001320007:exon3:c.98delinsCAATTATGAAGTTT:p.L33Pfs*8,RACGAP1:NM_001126104:exon4:c.320delinsCAATTATGAAGTTT:p.L107Pfs*8,RACGAP1:NM_001319999:exon4:c.320delinsCAATTATGAAGTTT:p.L107Pfs*8,RACGAP1:NM_001320001:exon4:c.320delinsCAATTATGAAGTTT:p.L107Pfs*8,RACGAP1:NM_001320002:exon4:c.320delinsCAATTATGAAGTTT:p.L107Pfs*8,RACGAP1:NM_001320003:exon4:c.320delinsCAATTATGAAGTTT:p.L107Pfs*8,RACGAP1:NM_001320004:exon4:c.320delinsCAATTATGAAGTTT:p.L107Pfs*8,RACGAP1:NM_001320000:exon5:c.320delinsCAATTATGAAGTTT:p.L107Pfs*8,RACGAP1:NM_001320006:exon5:c.356delinsCAATTATGAAGTTT:p.L119Pfs*8,RACGAP1:NM_001126103:exon6:c.320delinsCAATTATGAAGTTT:p.L107Pfs*8,RACGAP1:NM_013277:exon6:c.320delinsCAATTATGAAGTTT:p.L107Pfs*8",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WGS",".","."]
[85541,28263302,1,145298084,145298084,"G","C","DeNovo",".",".","1q21.1","exonic","NBPF20",100288142,".","stopgain","NBPF20:NM_001278267:exon130:c.C14417G:p.S4806X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WGS",".","."]
[85631,28263302,2,205400994,205401011,"CAGAGAGAGAGAGAGAGA","CAGAGAGAGAGAGAGA","DeNovo",".",".","2q33.3","splicing","PARD3B",117583,".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WGS",".","."]
[85785,28263302,16,3402019,3402023,"CTTGA","C","DeNovo",".",".","16p13.3","exonic","ZNF174",7727,".","frameshift substitution","ZNF174:NM_001032292:exon1:c.15_19C:p.M5Ifs*2,ZNF174:NM_001347869:exon1:c.15_19C:p.M5Ifs*2,ZNF174:NM_003450:exon1:c.15_19C:p.M5Ifs*2,ZNF174:NM_001347868:exon2:c.15_19C:p.M5Ifs*2,ZNF174:NM_001347870:exon2:c.15_19C:p.M5Ifs*2",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WGS",".","."]
[86043,28263302,11,27657981,27657982,"GT","G","DeNovo",".",".","11p14.1","exonic","BDNF",627,".","frameshift substitution","BDNF:NM_170735:exon1:c.583_584C:p.G195Pfs*5,BDNF:NM_001143805:exon2:c.583_584C:p.G195Pfs*5,BDNF:NM_001143806:exon2:c.583_584C:p.G195Pfs*5,BDNF:NM_001143807:exon2:c.583_584C:p.G195Pfs*5,BDNF:NM_001143808:exon2:c.583_584C:p.G195Pfs*5,BDNF:NM_001143809:exon2:c.670_671C:p.G224Pfs*5,BDNF:NM_001143812:exon2:c.583_584C:p.G195Pfs*5,BDNF:NM_001143813:exon2:c.583_584C:p.G195Pfs*5,BDNF:NM_001143816:exon2:c.583_584C:p.G195Pfs*5,BDNF:NM_001709:exon2:c.583_584C:p.G195Pfs*5,BDNF:NM_170731:exon2:c.607_608C:p.G203Pfs*5,BDNF:NM_170732:exon2:c.583_584C:p.G195Pfs*5,BDNF:NM_170733:exon2:c.583_584C:p.G195Pfs*5,BDNF:NM_170734:exon2:c.628_629C:p.G210Pfs*5,BDNF:NM_001143810:exon3:c.829_830C:p.G277Pfs*5,BDNF:NM_001143814:exon3:c.583_584C:p.G195Pfs*5,BDNF:NM_001143811:exon4:c.583_584C:p.G195Pfs*5","Central hypoventilation syndrome, congenital, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WGS",".","."]
[86509,28263302,22,32475110,32475133,"AAAACAAACAAACAAACAAACAAA","AAAACAAACAAACAAACAAA","DeNovo",".",".","22q12.3","exonic","FBXO7",25793,".","frameshift substitution","FBXO7:NM_012179:exon1:c.108_122AAAACAAACAAACAAACAAA:p.C36*","Parkinson disease 15, autosomal recessive, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WGS",".","."]
[87546,28263302,10,11462443,11462443,"C","G","DeNovo",".",".","10p14","exonic","USP6NL",9712,".","stoploss","USP6NL:NM_001080491:exon14:c.T2536C:p.X846R,USP6NL:NM_014688:exon15:c.T2485C:p.X829R",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"N",".",".",".",".",".",".",".",2.393,18.77,0.891,0.993,"D",".",".",".",".",0.295,0,5.97,1.062,1.199,0.838,0.693,16.461,"FamilyBased",".","ASD","WGS",".","."]
[88132,28263302,12,102196703,102196703,"G","A","DeNovo",".",".","12q23.2","splicing","PMCH",5367,"NM_002674:exon3:c.449-2C>T",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",4.38,24.1,0.99,0.975,"D",".",".",".",".",0.294,0,5.09,0.991,1.061,0.917,0.978,14.923,"FamilyBased",".","ASD","WGS",".","."]
[88409,28263302,11,60867665,60867675,"TCACACACACA","TCACACACA","DeNovo",".",".","11q12.2","exonic","ZP1",22917,".","frameshift substitution","ZP1:NM_207341:exon1:c.104_114TCACACACA:p.P35Lfs*32","Oocyte maturation defect 1, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WGS",".","."]
[88609,28263302,2,130110537,130110546,"GCTGCTGACT","GCTGCTGACTGCTGACT","DeNovo",".",".","2q21.1","exonic","POTEF",728378,".","frameshift substitution","POTEF:NM_001099771:exon7:c.1052_1055AGTCAGCAGTCAGCAGC:p.H351Qfs*13",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WGS",".","."]
[88757,28263302,12,132286271,132286271,"C","CTG","DeNovo",".",".","12q24.33","exonic","GALNT9",50614,".","frameshift substitution","GALNT9:NM_001122636:exon2:c.398delinsCAG:p.I133Tfs*13",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WGS",".","."]
[89255,28263302,7,102749554,102749557,"CAAA","CA","DeNovo",".",".","7q22.1","exonic","FAM185A",222234,".","frameshift substitution","FAM185A:NM_001145268:exon1:c.347_350CA:p.D116Afs*18,FAM185A:NM_001350987:exon1:c.347_350CA:p.D116Afs*18",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WGS",".","."]
[90078,28263302,20,62126415,62126415,"C","T","DeNovo",".",".","20q13.33","exonic","LSM14B",149986,".","stopgain","LSM14B:NM_144703:exon3:c.C403T:p.Q135X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",12.626,39,0.998,0.996,"D",".",".",".",".",0.707,0,5.42,0.871,0.834,1,1,19.212,"FamilyBased",".","ASD","WGS",".","."]
[90108,28263302,7,45101971,45101971,"A","AT","DeNovo",".",".","7p13","exonic","TBRG4",9238,".","frameshift substitution","TBRG4:NM_030900:exon6:c.1091delinsAT:p.P364Hfs*13,TBRG4:NM_199122:exon6:c.1091delinsAT:p.P364Hfs*13,TBRG4:NM_001261834:exon8:c.1454delinsAT:p.P485Hfs*13,TBRG4:NM_004749:exon8:c.1421delinsAT:p.P474Hfs*13",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WGS",".","."]
[90759,28263302,5,140042631,140042632,"AC","A","DeNovo",".",".","5q31.2","exonic","NRG2",9542,".","frameshift substitution","NRG2:NM_001184935:exon1:c.438_439T:p.N147Tfs*15,NRG2:NM_004883:exon1:c.438_439T:p.N147Tfs*15,NRG2:NM_013981:exon1:c.438_439T:p.N147Tfs*15,NRG2:NM_013982:exon1:c.438_439T:p.N147Tfs*15,NRG2:NM_013983:exon1:c.438_439T:p.N147Tfs*15",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WGS",".","."]
[90837,28263302,5,163463854,163463854,"G","T","DeNovo",".",".","5q34","splicing","HMMR",3161,"NM_001142556:exon2:c.47-2G>T;NM_012485:exon2:c.47-2G>T;NM_012484:exon2:c.47-2G>T",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",4.588,24.4,0.995,0.946,"D",".",".",".",".",0.164,0,5.76,1.062,1.199,0.816,0.977,15.045,"FamilyBased",".","ASD","WGS",".","."]
[92715,28263302,1,66984753,66984768,"GCACACACACACACAC","GCACACACACACAC","DeNovo",".",".","1p31.3","exonic","MIER1",57708,".","frameshift substitution","MIER1:NM_001077701:exon13:c.1392_1407GCACACACACACAC:p.N464Kfs*9,MIER1:NM_001077700:exon14:c.1551_1566GCACACACACACAC:p.N517Kfs*9,MIER1:NM_001146110:exon15:c.1443_1458GCACACACACACAC:p.N481Kfs*9,MIER1:NM_001146112:exon15:c.1311_1326GCACACACACACAC:p.N437Kfs*9,MIER1:NM_020948:exon15:c.1443_1458GCACACACACACAC:p.N481Kfs*9,MIER1:NM_001350530:exon16:c.1662_1677GCACACACACACAC:p.N554Kfs*9",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WGS",".","."]
[93135,28263302,4,87457875,87457875,"G","T","DeNovo",".",".","4q22.1","exonic","NUDT9",53343,".","stopgain","NUDT9:NM_001248011:exon7:c.G811T:p.G271X,NUDT9:NM_024047:exon8:c.G907T:p.G303X,NUDT9:NM_198038:exon8:c.G757T:p.G253X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",".",".",".",".",".",".",".",12.683,40,0.99,0.981,"D",".",".",".",".",0.707,0,5.09,0.917,1.048,0.969,0.993,15.59,"FamilyBased",".","ASD","WGS",".","."]
[94382,28263302,8,38253670,38253677,"ATTTTTTT","ATTT","DeNovo",".",".","8p11.23","exonic","DDHD2",23259,".","frameshift substitution","DDHD2:NM_001164232:exon16:c.2006_2013ATTT:p.E669Dfs*50,DDHD2:NM_015214:exon16:c.2006_2013ATTT:p.E669Dfs*50","Spastic paraplegia 54, autosomal recessive, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WGS",".","."]
[94869,28263302,11,56612581,56612581,"G","A","DeNovo",".",".","11q12.1","exonic","OR5M1",390168,".","stopgain","OR5M1:NM_001004740:exon1:c.A922T:p.K308X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.959,"N",".",".",".",".",".",".",".",7.77,35,0.927,0.041,"N",".",".",".",".",0.487,0,2.59,0.064,-0.025,0.004,1E-3,9.954,"FamilyBased",".","ASD","WGS",".","."]
[95255,28263302,12,132286261,132286261,"C","T","DeNovo",".",".","12q24.33","exonic","GALNT9",50614,".","stopgain","GALNT9:NM_001122636:exon2:c.C408A:p.Y136X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",11.674,38,0.996,0.95,"D",".",".",".",".",0.677,0,3.86,0.697,0.04,0.976,0.955,13.08,"FamilyBased",".","ASD","WGS",".","."]
[95264,28263302,17,42219346,42219347,"TG","T","DeNovo",".",".","17q21.2","exonic","STAT5B",6777,".","frameshift substitution","STAT5B:NM_012448:exon7:c.798_799A:p.E269Rfs*60;STAT5B:NM_012448:exon7:c.798_799A:p.E269Rfs*60","Growth hormone insensitivity with immunodeficiency;Leukemia, acute promyelocytic, somatic",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WGS",".","."]
[95334,28263302,10,102872513,102872513,"G","GGCAACAGTATT","DeNovo",".",".","10q24.32","exonic","AS3MT",57412,".","frameshift substitution","AS3MT:NM_020682:exon4:c.236delinsGGCAACAGTATT:p.S79Rfs*24",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WGS",".","."]
[95675,28263302,11,43443323,43443323,"T","TATACATATA","DeNovo",".",".","11p11.2","splicing","TTC17",55761,"NM_001307943:exon18:c.2423-2T>TATACATATA;NM_018259:exon17:c.2252-2T>TATACATATA",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WGS",".","."]
[96000,28263302,3,183508208,183508208,"G","GACAGACTTTA","DeNovo",".",".","3q27.1","exonic","KLHL6",89857,".","frameshift substitution","KLHL6:NM_130446:exon3:c.760delinsTAAAGTCTGTC:p.L254*;KLHL6:NM_130446:exon3:c.760delinsTAAAGTCTGTC:p.L254*;KLHL6:NM_130446:exon3:c.760delinsTAAAGTCTGTC:p.L254*;KLHL6:NM_130446:exon3:c.760delinsTAAAGTCTGTC:p.L254*;KLHL6:NM_130446:exon3:c.760delinsTAAAGTCTGTC:p.L254*;KLHL6:NM_130446:exon3:c.760delinsTAAAGTCTGTC:p.L254*;KLHL6:NM_130446:exon3:c.760delinsTAAAGTCTGTC:p.L254*;KLHL6:NM_130446:exon3:c.760delinsTAAAGTCTGTC:p.L254*;KLHL6:NM_130446:exon3:c.760delinsTAAAGTCTGTC:p.L254*",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WGS",".","."]
[96086,28263302,3,183508208,183508208,"G","GACAGACTTTA","DeNovo",".",".","3q27.1","exonic","KLHL6",89857,".","frameshift substitution","KLHL6:NM_130446:exon3:c.760delinsTAAAGTCTGTC:p.L254*;KLHL6:NM_130446:exon3:c.760delinsTAAAGTCTGTC:p.L254*;KLHL6:NM_130446:exon3:c.760delinsTAAAGTCTGTC:p.L254*;KLHL6:NM_130446:exon3:c.760delinsTAAAGTCTGTC:p.L254*;KLHL6:NM_130446:exon3:c.760delinsTAAAGTCTGTC:p.L254*;KLHL6:NM_130446:exon3:c.760delinsTAAAGTCTGTC:p.L254*;KLHL6:NM_130446:exon3:c.760delinsTAAAGTCTGTC:p.L254*;KLHL6:NM_130446:exon3:c.760delinsTAAAGTCTGTC:p.L254*;KLHL6:NM_130446:exon3:c.760delinsTAAAGTCTGTC:p.L254*",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WGS",".","."]
[96648,28263302,16,24858732,24858746,"TTCTCTCTCTCTCTC","TTCTCTCTCTCTC","DeNovo",".",".","16p12.1","exonic","SLC5A11",115584,".","frameshift substitution","SLC5A11:NM_052944:exon2:c.89_103TTCTCTCTCTCTC:p.A30Vfs*72,SLC5A11:NM_001258411:exon3:c.89_103TTCTCTCTCTCTC:p.A30Vfs*72,SLC5A11:NM_001258412:exon3:c.89_103TTCTCTCTCTCTC:p.A30Vfs*142",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WGS",".","."]
[99094,28263302,12,113380732,113380746,"TACACACACACACAC","TACACACACACAC","DeNovo",".",".","12q24.13","exonic","PLBD2",196463,".","frameshift substitution","PLBD2:NM_001159727:exon6:c.860_861TACACACACACAC:p.G287Vfs*38,PLBD2:NM_173542:exon6:c.860_861TACACACACACAC:p.G287Vfs*38",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WGS",".","."]
[100161,28263302,5,140787058,140787058,"A","ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTGCATT","DeNovo",".",".","5q31.3","exonic","PCDHA1",56147,".","frameshift substitution","PCDHA1:NM_018900:exon1:c.768delinsATTTCTGTTTTTCTTTTTTTTTTTTTTTTTGCATT:p.N257Ffs*12,PCDHA1:NM_031410:exon1:c.768delinsATTTCTGTTTTTCTTTTTTTTTTTTTTTTTGCATT:p.N257Ffs*12,PCDHA1:NM_031411:exon1:c.768delinsATTTCTGTTTTTCTTTTTTTTTTTTTTTTTGCATT:p.N257Ffs*12",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WGS",".","."]
[100217,28263302,14,105272892,105272892,"T","TCCACCATCAC","DeNovo",".",".","14q32.33","exonic","BRF1",2972,".","frameshift substitution","BRF1:NM_001242788:exon2:c.187delinsGTGATGGTGGA:p.R63Vfs*155,BRF1:NM_001242790:exon3:c.268delinsGTGATGGTGGA:p.R90Vfs*86,BRF1:NM_001519:exon3:c.268delinsGTGATGGTGGA:p.R90Vfs*155","Cerebellofaciodental syndrome, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WGS",".","."]
[100689,28263302,17,41467211,41467211,"T","TTGTGGGC","DeNovo",".",".","17q21.2","exonic","KRT32",3882,".","frameshift substitution","KRT32:NM_002278:exon1:c.115delinsGCCCACAA:p.Y39Afs*60;KRT32:NM_002278:exon1:c.115delinsGCCCACAA:p.Y39Afs*60;KRT32:NM_002278:exon1:c.115delinsGCCCACAA:p.Y39Afs*60;KRT32:NM_002278:exon1:c.115delinsGCCCACAA:p.Y39Afs*60;KRT32:NM_002278:exon1:c.115delinsGCCCACAA:p.Y39Afs*60;KRT32:NM_002278:exon1:c.115delinsGCCCACAA:p.Y39Afs*60;KRT32:NM_002278:exon1:c.115delinsGCCCACAA:p.Y39Afs*60;KRT32:NM_002278:exon1:c.115delinsGCCCACAA:p.Y39Afs*60",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WGS",".","."]
[101019,28263302,17,41467211,41467211,"T","TTGTGGGC","DeNovo",".",".","17q21.2","exonic","KRT32",3882,".","frameshift substitution","KRT32:NM_002278:exon1:c.115delinsGCCCACAA:p.Y39Afs*60;KRT32:NM_002278:exon1:c.115delinsGCCCACAA:p.Y39Afs*60;KRT32:NM_002278:exon1:c.115delinsGCCCACAA:p.Y39Afs*60;KRT32:NM_002278:exon1:c.115delinsGCCCACAA:p.Y39Afs*60;KRT32:NM_002278:exon1:c.115delinsGCCCACAA:p.Y39Afs*60;KRT32:NM_002278:exon1:c.115delinsGCCCACAA:p.Y39Afs*60;KRT32:NM_002278:exon1:c.115delinsGCCCACAA:p.Y39Afs*60;KRT32:NM_002278:exon1:c.115delinsGCCCACAA:p.Y39Afs*60",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WGS",".","."]
[101607,28263302,17,41467211,41467211,"T","TTGTGGGC","DeNovo",".",".","17q21.2","exonic","KRT32",3882,".","frameshift substitution","KRT32:NM_002278:exon1:c.115delinsGCCCACAA:p.Y39Afs*60;KRT32:NM_002278:exon1:c.115delinsGCCCACAA:p.Y39Afs*60;KRT32:NM_002278:exon1:c.115delinsGCCCACAA:p.Y39Afs*60;KRT32:NM_002278:exon1:c.115delinsGCCCACAA:p.Y39Afs*60;KRT32:NM_002278:exon1:c.115delinsGCCCACAA:p.Y39Afs*60;KRT32:NM_002278:exon1:c.115delinsGCCCACAA:p.Y39Afs*60;KRT32:NM_002278:exon1:c.115delinsGCCCACAA:p.Y39Afs*60;KRT32:NM_002278:exon1:c.115delinsGCCCACAA:p.Y39Afs*60",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WGS",".","."]
[101723,28263302,17,41467211,41467211,"T","TTGTGGGC","DeNovo",".",".","17q21.2","exonic","KRT32",3882,".","frameshift substitution","KRT32:NM_002278:exon1:c.115delinsGCCCACAA:p.Y39Afs*60;KRT32:NM_002278:exon1:c.115delinsGCCCACAA:p.Y39Afs*60;KRT32:NM_002278:exon1:c.115delinsGCCCACAA:p.Y39Afs*60;KRT32:NM_002278:exon1:c.115delinsGCCCACAA:p.Y39Afs*60;KRT32:NM_002278:exon1:c.115delinsGCCCACAA:p.Y39Afs*60;KRT32:NM_002278:exon1:c.115delinsGCCCACAA:p.Y39Afs*60;KRT32:NM_002278:exon1:c.115delinsGCCCACAA:p.Y39Afs*60;KRT32:NM_002278:exon1:c.115delinsGCCCACAA:p.Y39Afs*60",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WGS",".","."]
[102173,28263302,18,76960733,76960733,"C","CAGGGTCAGAGCAGAGGCGGAGGTGGGAACGTT","DeNovo",".",".","18q23","exonic","ZNF236",7776,".","frameshift substitution","ZNF236:NM_001306089:exon30:c.5297delinsCAGGGTCAGAGCAGAGGCGGAGGTGGGAACGTT:p.L1767Gfs*16,ZNF236:NM_007345:exon30:c.5291delinsCAGGGTCAGAGCAGAGGCGGAGGTGGGAACGTT:p.L1765Gfs*16",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WGS",".","."]
[103287,28263302,11,64556228,64556231,"TGGG","TGG","DeNovo",".",".","11q13.1","exonic","SLC22A11",55867,".","frameshift substitution","SLC22A11:NM_001307985:exon1:c.229_232TGG:p.G77Wfs*65,SLC22A11:NM_018484:exon1:c.229_232TGG:p.G77Wfs*65",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WGS",".","."]
[103599,28263302,13,27988485,27988485,"C","CG","DeNovo",".",".","13q12.2","exonic","URAD",646625,".","frameshift substitution","URAD:NM_001105577:exon1:c.153delinsCG:p.I52Dfs*2",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WGS",".","."]
[103690,28263302,18,33745708,33745731,"GGTGGTGCACGCCTGTAATCCCAG","GG","DeNovo",".",".","18q12.1","exonic","ASXL3",80816,".","frameshift substitution","ASXL3:NM_030632:exon12:c.5860_5883GG:p.T1954Gfs*24","Bainbridge-Ropers syndrome",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WGS",".","."]
[103745,28263302,18,34864003,34864003,"C","CA","DeNovo",".",".","18q12.1","exonic","DTNA",1837,".","frameshift substitution","DTNA:NM_001198943:exon7:c.673delinsCA:p.L225Hfs*82,DTNA:NM_032981:exon7:c.469delinsCA:p.L157Hfs*54,DTNA:NM_001198944:exon8:c.559delinsCA:p.L187Hfs*82,DTNA:NM_032980:exon8:c.547delinsCA:p.L183Hfs*82,DTNA:NM_001198942:exon10:c.730delinsCA:p.L244Hfs*82,DTNA:NM_001198945:exon10:c.853delinsCA:p.L285Hfs*54,DTNA:NM_001198941:exon14:c.1423delinsCA:p.L475Hfs*54,DTNA:NM_001198938:exon15:c.1423delinsCA:p.L475Hfs*82,DTNA:NM_001198939:exon15:c.1423delinsCA:p.L475Hfs*89,DTNA:NM_001198940:exon15:c.1423delinsCA:p.L475Hfs*82,DTNA:NM_001390:exon16:c.1603delinsCA:p.L535Hfs*82,DTNA:NM_001391:exon16:c.1603delinsCA:p.L535Hfs*54,DTNA:NM_032975:exon16:c.1432delinsCA:p.L478Hfs*82,DTNA:NM_032978:exon16:c.1594delinsCA:p.L532Hfs*54,DTNA:NM_032979:exon16:c.1432delinsCA:p.L478Hfs*54","Left ventricular noncompaction 1, with or without congenital heart defects, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WGS",".","."]
[103751,28263302,1,156468047,156468047,"A","ACG","DeNovo",".",".","1q22","exonic","MEF2D",4209,".","frameshift substitution","MEF2D:NM_001271629:exon10:c.1479delinsCGT:p.P494Vfs*11,MEF2D:NM_005920:exon11:c.1500delinsCGT:p.P501Vfs*11",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WGS",".","."]
[105470,28263302,16,3243914,3243923,"AACTGCCCCA","AA","DeNovo",".",".","16p13.3","exonic","MEFV",4210,".","frameshift substitution","MEFV:NM_001198536:exon8:c.1271_1280TT:p.D424Vfs*8","Familial Mediterranean fever, AD, Autosomal dominant;Familial Mediterranean fever, AR, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WGS",".","."]
[105769,28263302,22,23858022,23858023,"AG","A","DeNovo",".",".","22q11.23","exonic","SLC2A11",66035,".","frameshift substitution","SLC2A11:NM_001024939:exon1:c.23_24A:p.S8*",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WGS",".","."]
[106244,28263302,17,4885966,4885966,"C","A","DeNovo",".",".","17p13.2","splicing","MINK1",50488,"NM_170663:exon8:c.694+1C>A;NM_015716:exon8:c.694+1C>A;NM_153827:exon8:c.694+1C>A;NM_001321236:exon9:c.529+1C>A;NM_001024937:exon8:c.694+1C>A",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",6.045,28,0.994,0.994,"D",".",".",".",".",0.295,0,5.43,0.917,1.048,0.986,0.996,16.769,"FamilyBased",".","ASD","WGS",".","."]
[106381,28263302,17,32488322,32488322,"G","A","DeNovo",".",".","17q11.2","exonic","CDK5R1",8851,".","stopgain","CDK5R1:NM_003885:exon2:c.C702A:p.Y234X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",".",".",".",".",".",".",".",9.685,36,0.996,0.88,"D",".",".",".",".",0.789,0,1.29,-0.379,0.077,0.997,1,7.995,"FamilyBased",".","ASD","WGS",".","."]
[106386,28263302,18,45955101,45955105,"TCCCC","TCCC","DeNovo",".",".","18q21.1","exonic","EPG5",57724,".","frameshift substitution","EPG5:NM_020964:exon2:c.297_301GGGA:p.N99Kfs*34","Vici syndrome, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WGS",".","."]
[107356,28263302,19,14841253,14841253,"T","TCCCTTCC","DeNovo",".",".","19p13.12","exonic","OR7A10",390892,".","frameshift substitution","OR7A10:NM_001005190:exon1:c.625delinsGGAAGGGA:p.P210Rfs*13;OR7A10:NM_001005190:exon1:c.625delinsGGAAGGGA:p.P210Rfs*13",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WGS",".","."]
[107933,28263302,17,41467211,41467211,"T","TTGTGGGC","DeNovo",".",".","17q21.2","exonic","KRT32",3882,".","frameshift substitution","KRT32:NM_002278:exon1:c.115delinsGCCCACAA:p.Y39Afs*60;KRT32:NM_002278:exon1:c.115delinsGCCCACAA:p.Y39Afs*60;KRT32:NM_002278:exon1:c.115delinsGCCCACAA:p.Y39Afs*60;KRT32:NM_002278:exon1:c.115delinsGCCCACAA:p.Y39Afs*60;KRT32:NM_002278:exon1:c.115delinsGCCCACAA:p.Y39Afs*60;KRT32:NM_002278:exon1:c.115delinsGCCCACAA:p.Y39Afs*60;KRT32:NM_002278:exon1:c.115delinsGCCCACAA:p.Y39Afs*60;KRT32:NM_002278:exon1:c.115delinsGCCCACAA:p.Y39Afs*60",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WGS",".","."]
[108510,28263302,5,14476921,14476921,"G","GAA","DeNovo",".",".","5p15.2","exonic","TRIO",7204,".","frameshift substitution","TRIO:NM_007118:exon41:c.6111delinsGAA:p.C2037Wfs*9","Mental retardation, autosomal dominant 44, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WGS",".","."]
[108564,28263302,13,57149501,57149501,"T","TTC","DeNovo",".",".","13q21.1","exonic","PRR20A;PRR20B;PRR20C;PRR20D;PRR20E","122183;729233;729240;729246;729250",".","frameshift substitution","PRR20B:NM_001130404:exon3:c.606delinsTTC:p.Q202Hfs*54,PRR20C:NM_001130405:exon3:c.606delinsTTC:p.Q202Hfs*54,PRR20D:NM_001130406:exon3:c.606delinsTTC:p.Q202Hfs*54,PRR20E:NM_001130407:exon3:c.606delinsTTC:p.Q202Hfs*54,PRR20A:NM_198441:exon3:c.606delinsTTC:p.Q202Hfs*54",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WGS",".","."]
[108672,28263302,17,4887721,4887721,"G","GTACC","DeNovo",".",".","17p13.2","exonic","MINK1",50488,".","frameshift substitution","MINK1:NM_001024937:exon12:c.1161delinsGTACC:p.I387Mfs*130,MINK1:NM_015716:exon12:c.1161delinsGTACC:p.I387Mfs*130,MINK1:NM_153827:exon12:c.1161delinsGTACC:p.I387Mfs*130,MINK1:NM_170663:exon12:c.1161delinsGTACC:p.I387Mfs*130,MINK1:NM_001321236:exon13:c.996delinsGTACC:p.I332Mfs*130",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WGS",".","."]
[109482,28263302,18,49792268,49792268,"G","A","DeNovo",".",".","18q21.1","exonic","ACAA2",10449,".","stopgain","ACAA2:NM_006111:exon6:c.G637T:p.G213X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",13.288,41,0.994,0.991,"D",".",".",".",".",0.707,0,5.49,0.791,0.845,0.993,0.982,19.382,"FamilyBased",".","ASD","WGS",".","."]
[110126,28263302,3,183508208,183508208,"G","GACAGACTTTA","DeNovo",".",".","3q27.1","exonic","KLHL6",89857,".","frameshift substitution","KLHL6:NM_130446:exon3:c.760delinsTAAAGTCTGTC:p.L254*;KLHL6:NM_130446:exon3:c.760delinsTAAAGTCTGTC:p.L254*;KLHL6:NM_130446:exon3:c.760delinsTAAAGTCTGTC:p.L254*;KLHL6:NM_130446:exon3:c.760delinsTAAAGTCTGTC:p.L254*;KLHL6:NM_130446:exon3:c.760delinsTAAAGTCTGTC:p.L254*;KLHL6:NM_130446:exon3:c.760delinsTAAAGTCTGTC:p.L254*;KLHL6:NM_130446:exon3:c.760delinsTAAAGTCTGTC:p.L254*;KLHL6:NM_130446:exon3:c.760delinsTAAAGTCTGTC:p.L254*;KLHL6:NM_130446:exon3:c.760delinsTAAAGTCTGTC:p.L254*",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WGS",".","."]
[110266,28263302,3,183508208,183508208,"G","GACAGACTTTA","DeNovo",".",".","3q27.1","exonic","KLHL6",89857,".","frameshift substitution","KLHL6:NM_130446:exon3:c.760delinsTAAAGTCTGTC:p.L254*;KLHL6:NM_130446:exon3:c.760delinsTAAAGTCTGTC:p.L254*;KLHL6:NM_130446:exon3:c.760delinsTAAAGTCTGTC:p.L254*;KLHL6:NM_130446:exon3:c.760delinsTAAAGTCTGTC:p.L254*;KLHL6:NM_130446:exon3:c.760delinsTAAAGTCTGTC:p.L254*;KLHL6:NM_130446:exon3:c.760delinsTAAAGTCTGTC:p.L254*;KLHL6:NM_130446:exon3:c.760delinsTAAAGTCTGTC:p.L254*;KLHL6:NM_130446:exon3:c.760delinsTAAAGTCTGTC:p.L254*;KLHL6:NM_130446:exon3:c.760delinsTAAAGTCTGTC:p.L254*",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WGS",".","."]
[110336,28263302,17,7589211,7589211,"G","A","DeNovo",".",".","17p13.1","exonic","SOX15",6665,".","stopgain","SOX15:NM_006942:exon1:c.C466T:p.Q156X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.115,"N",1,"A",".",".",".",".",".",".",".",9.501,35,0.996,0.513,"D",".",".",".",".",0.442,0,4.55,0.63,1.048,0.138,0.507,11.987,"FamilyBased",".","ASD","WGS",".","."]
[110545,28263302,6,30186200,30186202,"CTT","C","DeNovo",".",".","6p22.1","exonic","TRIM26",7726,".","frameshift substitution","TRIM26:NM_001242783:exon9:c.1294_1296G:p.E432Gfs*11,TRIM26:NM_003449:exon10:c.1294_1296G:p.E432Gfs*11",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WGS",".","."]
[112087,28263302,1,91315905,91315905,"C","CA","DeNovo",".",".","1p22.2","exonic","HFM1",164045,".","frameshift substitution","HFM1:NM_001017975:exon28:c.3050delinsTG:p.Q1018Tfs*3","Premature ovarian failure 9, Autosomal recessive",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WGS",".","."]
[113279,28263302,15,41471240,41471240,"G","A","DeNovo",".",".","15q15.1","exonic","RTF1",23168,".","stopgain","RTF1:NM_015138:exon8:c.C1094A:p.S365X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",12.772,40,0.994,0.995,"D",".",".",".",".",0.707,0,5.87,0.871,0.935,1,1,20.218,"FamilyBased",".","ASD","WGS",".","."]
[113744,28263302,17,41465810,41465810,"T","TC","DeNovo",".",".","17q21.2","exonic","KRT32",3882,".","frameshift substitution","KRT32:NM_002278:exon3:c.671delinsGA:p.K224Rfs*12;KRT32:NM_002278:exon3:c.671delinsGA:p.K224Rfs*12",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WGS",".","."]
[113770,28263302,2,42303347,42303347,"C","CA","DeNovo",".",".","2p21","exonic","EML4",27436,".","frameshift substitution","EML4:NM_001145076:exon15:c.1626delinsCA:p.H543Tfs*34,EML4:NM_019063:exon16:c.1800delinsCA:p.H601Tfs*34",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".","FamilyBased",".","ASD","WGS",".","."]
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[169047,21572417,3,38009274,38009274,"G","C","DeNovo",".",".","3p22.2","exonic","PLCD1",5333,".","stopgain","PLCD1:NM_001130964:exon10:c.C1667G:p.S556X,PLCD1:NM_006225:exon10:c.C1604G:p.S535X","Nail disorder, nonsyndromic congenital, 3, (leukonychia), Autosomal recessive, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",12.505,39,0.996,0.97,"D",".",".",".",".",0.635,0,4.25,0.917,1.048,0.703,0.997,14.467,"FamilyBased",".","ASD","WES",".","."]
[169057,21572417,3,38011675,38011675,"T","G","DeNovo",".",".","3p22.2","splicing","PLCD1",5333,"NM_001130964:exon4:c.492-2A>C;NM_006225:exon4:c.429-2A>C",".",".","Nail disorder, nonsyndromic congenital, 3, (leukonychia), Autosomal recessive, Autosomal dominant",".","rs148984703",{"v":3.3e-05,"d":"3.30E-05"},0,{"v":8.65e-05,"d":"8.65E-05"},0,0,{"v":4.5e-05,"d":"4.50E-05"},0,0,1.99681E-4,".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",5.082,25.3,0.995,0.984,"D",".",".",".",".",0.162,0,5.11,0.991,1.061,0.971,0.777,15.193,"FamilyBased",".","ASD","WES",".","."]
[169099,21572417,2,165991478,165991478,"G","A","DeNovo",".",".","2q24.3","exonic","SCN1A",6323,".","stopgain","SCN1A:NM_001165963:exon26:c.C5797T:p.R1933X,SCN1A:NM_001165964:exon26:c.C5713T:p.R1905X,SCN1A:NM_006920:exon26:c.C5764T:p.R1922X,SCN1A:NM_001202435:exon28:c.C5797T:p.R1933X","Epilepsy, generalized, with febrile seizures plus, type 2, Autosomal dominant;Epileptic encephalopathy, early infantile, 6, Autosomal dominant;Febrile seizures, familial, 3A, Autosomal dominant;Migraine, familial hemiplegic, 3, Autosomal dominant","ID=COSM247206;OCCURENCE=1(prostate)",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"D",".",".",".",".",".",".",".",11.578,37,0.993,0.905,"D",".",".",".",".",0.487,0,2.85,0.917,-0.291,1,0.997,14.51,"FamilyBased",".","ASD","WES",".","."]
[169436,21572417,2,178745656,178745656,"C","A","DeNovo",".",".","2q31.2","exonic","TTN",7273,".","stopgain","TTN:NM_133379:exon46:c.G16744T:p.G5582X","Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant",".","rs143376837",{"v":8.3e-06,"d":"8.30E-06"},{"v":9.63e-05,"d":"9.63E-05"},0,0,0,0,0,0,1.99681E-4,".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",0.535,7.693,0.971,0.991,"D",".",".",".",".",0.554,0,6.17,0.871,0.935,0.852,0.507,20.879,"FamilyBased",".","ASD","WES",".","."]
[169497,21572417,2,178767782,178767782,"G","A","DeNovo",".",".","2q31.2","exonic","TTN",7273,".","stopgain","TTN:NM_003319:exon39:c.C9310T:p.R3104X,TTN:NM_133432:exon39:c.C9310T:p.R3104X,TTN:NM_133437:exon39:c.C9310T:p.R3104X,TTN:NM_001256850:exon40:c.C9448T:p.R3150X,TTN:NM_001267550:exon40:c.C9448T:p.R3150X,TTN:NM_133378:exon40:c.C9448T:p.R3150X,TTN:NM_133379:exon40:c.C9448T:p.R3150X","Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant","ID=COSM1012976,COSM1012973,COSM1012977,COSM1012975,COSM1012978;OCCURENCE=1(endometrium)","rs146572907",{"v":1.65e-05,"d":"1.65E-05"},0,0,0,0,{"v":3e-05,"d":"3.00E-05"},0,0,".","Uncertain significance","not_specified","RCV000338901.1","MedGen","CN169374",".",".",".",".",".",".",".",".",1,"A",".",".",".",".",".",".",".",13.166,41,0.995,0.937,"D",".",".",".",".",0.516,0,5.11,0.917,1.048,0.995,1,12.546,"FamilyBased",".","ASD","WES",".","."]
[169734,22495306,8,60572063,60572063,"C","T","DeNovo",".",".","8q12.1","exonic","RAB2A",5862,".","stopgain","RAB2A:NM_001242644:exon2:c.C64T:p.R22X,RAB2A:NM_002865:exon3:c.C136T:p.R46X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",13.417,42,0.996,0.881,"D",".",".",".",".",0.732,0,5.75,0.871,0.931,1,0.972,16.861,"FamilyBased",".","ASD","WES",".","."]
[169753,22495306,8,143577061,143577061,"C","T","DeNovo",".",".","8q24.3","splicing","NAPRT",93100,"NM_001286829:exon5:c.684+1G>A;NM_145201:exon5:c.684+1G>A;NM_001286829:exon5:c.684+1G>A;NM_145201:exon5:c.684+1G>A",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",4.723,24.6,0.992,0.633,"D",".",".",".",".",0.256,0,4.39,0.871,0.852,0.906,0.976,9.467,"FamilyBased",".","ASD","WES",".","."]
[169771,22495306,1,159808960,159808960,"G","A","DeNovo",".",".","1q23.2","splicing","FCRL6",343413,"NM_001284217:exon5:c.341-1G>A;NM_001004310:exon4:c.320-1G>A",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",3.677,23.3,0.992,0.942,"D",".",".",".",".",0.066,0,4.17,0.917,0.813,0.992,0.713,12.345,"FamilyBased",".","ASD","WES",".","."]
[169792,22495306,2,165344869,165344869,"C","A","DeNovo",".",".","2q24.3","exonic","SCN2A",6326,".","stopgain","SCN2A:NM_001040143:exon15:c.C2877A:p.C959X,SCN2A:NM_001040142:exon16:c.C2877A:p.C959X,SCN2A:NM_021007:exon16:c.C2877A:p.C959X","Epileptic encephalopathy, early infantile, 11, Autosomal dominant;Seizures, benign familial infantile, 3, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",11.76,38,0.993,0.925,"D",".",".",".",".",0.554,0,4.53,-0.048,0.077,0.999,0.999,14.591,"FamilyBased",".","ASD","WES",".","."]
[169799,22495306,9,36375932,36375932,"A","G","DeNovo",".",".","9p13.2","splicing","RNF38",152006,"NM_022781:exon3:c.356+2T>C;NM_194328:exon3:c.107+2T>C;NM_194329:exon2:c.206+2T>C;NM_194332:exon2:c.107+2T>C;NM_194330:exon3:c.107+2T>C;NM_022781:exon3:c.356+2T>C;NM_194328:exon3:c.107+2T>C;NM_194329:exon2:c.206+2T>C;NM_194332:exon2:c.107+2T>C;NM_194330:exon3:c.107+2T>C",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",1,"D",".",".",".",".",".",".",".",5.108,25.3,0.994,0.989,"D",".",".",".",".",0.295,0,5.93,1.062,1.199,1,1,14.346,"FamilyBased",".","ASD","WES",".","."]
[169802,22495306,13,19661758,19661758,"C","T","DeNovo",".",".","13q12.11","exonic","MPHOSPH8",54737,".","stopgain","MPHOSPH8:NM_017520:exon8:c.C1852T:p.R618X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",7.095,33,0.887,0.119,"N",".",".",".",".",0.707,0,-9.15,0.067,-0.813,0.931,0.868,27.659,"FamilyBased",".","ASD","WES",".","."]
[169811,22495306,17,60663015,60663015,"G","A","DeNovo",".",".","17q23.2","exonic","PPM1D",8493,".","stopgain","PPM1D:NM_003620:exon6:c.G1281A:p.W427X","Breast cancer, Autosomal dominant",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0.005,"N",1,"D",".",".",".",".",".",".",".",12.173,38,0.996,0.984,"D",".",".",".",".",0.706,0,5.78,0.917,0.998,0.995,0.997,20.375,"FamilyBased",".","ASD","WES",".","."]
[169828,22495306,6,17605931,17605931,"C","T","DeNovo",".",".","6p22.3","exonic","FAM8A1",51439,".","stopgain","FAM8A1:NM_016255:exon4:c.C1015T:p.R339X",".",".","rs200897067",0.0002,0.0004,0,0,0.0002,0.0003,0,0.0002,".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",14.276,45,0.998,0.964,"D",".",".",".",".",0.732,0,5.75,0.871,0.935,1,1,14.752,"FamilyBased",".","ASD","WES",".","."]
[169840,22495306,1,22910448,22910448,"C","T","DeNovo",".",".","1p36.12","exonic","EPHB2",2048,".","stopgain","EPHB2:NM_001309192:exon12:c.C2395T:p.Q799X,EPHB2:NM_001309193:exon14:c.C2569T:p.Q857X,EPHB2:NM_004442:exon14:c.C2572T:p.Q858X,EPHB2:NM_017449:exon14:c.C2569T:p.Q857X",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",".",0,"D",1,"A",".",".",".",".",".",".",".",14.841,48,0.998,0.982,"D",".",".",".",".",0.707,0,4.64,0.871,0.85,0.999,0.999,16.64,"FamilyBased",".","ASD","WES",".","."]

{"sheet":"Pathway enrichment","index":3,"n_rows":420,"n_cols":4,"rows_kept":420}
["Supplementary Table 3: Pathway enrichment of ASD LOF genes"]
["pathwayid","pathwayname","Pvalue","FDR"]
["GO:0010977","NEGATIVE REGULATION OF NEURON PROJECTION DEVELOPMENT",0.000502351,0.011759961]
["GO:0021885","FOREBRAIN CELL MIGRATION",0.001976571,0.032349886]
["GO:0060560","DEVELOPMENTAL GROWTH INVOLVED IN MORPHOGENESIS",0.003172009,0.045362812]
["GO:0045765","REGULATION OF ANGIOGENESIS",0.00095965,0.018969683]
["GO:0048167","REGULATION OF SYNAPTIC PLASTICITY",1.52569E-4,0.004681964]
["GO:0007517","MUSCLE ORGAN DEVELOPMENT",0.000564631,0.012995336]
["GO:0001708","CELL FATE SPECIFICATION",0.000309297,0.008063618]
["GO:0031400","NEGATIVE REGULATION OF PROTEIN MODIFICATION PROCESS",0.000981189,0.019079754]
["GO:0060341","REGULATION OF CELLULAR LOCALIZATION",0.002265503,0.035406751]
["GO:0007020","MICROTUBULE NUCLEATION",{"v":6.3E-5,"d":"6.30E-05"},2.451581E-3]
["GO:0033045","REGULATION OF SISTER CHROMATID SEGREGATION",0.002780985,0.041066581]
["GO:0051056","REGULATION OF SMALL GTPASE MEDIATED SIGNAL TRANSDUCTION",0.002051278,0.033214861]
["GO:0007611","LEARNING OR MEMORY",{"v":2.89e-07,"d":"2.89E-07"},{"v":4.15e-05,"d":"4.15E-05"}]
["GO:0198738","CELL-CELL SIGNALING BY WNT",0.0001413,4.404959E-3]
["GO:2000463","POSITIVE REGULATION OF EXCITATORY POSTSYNAPTIC POTENTIAL",{"v":4.33e-05,"d":"4.33E-05"},1.890161E-3]
["GO:0032446","PROTEIN MODIFICATION BY SMALL PROTEIN CONJUGATION",0.001415898,0.024977466]
["GO:0034248","REGULATION OF CELLULAR AMIDE METABOLIC PROCESS",1.536999E-3,0.026402335]
["GO:0022898","REGULATION OF TRANSMEMBRANE TRANSPORTER ACTIVITY",0.002923594,0.042494007]
["GO:0045922","NEGATIVE REGULATION OF FATTY ACID METABOLIC PROCESS",0.001974924,0.032349886]
["GO:0030031","CELL PROJECTION ASSEMBLY",{"v":5.29e-05,"d":"5.29E-05"},0.002196722]
["GO:0014706","STRIATED MUSCLE TISSUE DEVELOPMENT",0.000835048,0.017263526]
["GO:0010770","POSITIVE REGULATION OF CELL MORPHOGENESIS INVOLVED IN DIFFERENTIATION",0.000502351,0.011759961]
["GO:0051960","REGULATION OF NERVOUS SYSTEM DEVELOPMENT",{"v":1.17e-08,"d":"1.17E-08"},{"v":4.07E-6,"d":"4.07E-06"}]
["GO:0000226","MICROTUBULE CYTOSKELETON ORGANIZATION",{"v":5.33e-07,"d":"5.33E-07"},{"v":6.55e-05,"d":"6.55E-05"}]
["GO:0007155","CELL ADHESION",{"v":4.62e-08,"d":"4.62E-08"},{"v":1.05e-05,"d":"1.05E-05"}]
["GO:0044087","REGULATION OF CELLULAR COMPONENT BIOGENESIS",{"v":2.99e-07,"d":"2.99E-07"},{"v":4.19e-05,"d":"4.19E-05"}]
["GO:0016567","PROTEIN UBIQUITINATION",0.000985972,0.019109697]
["GO:0051968","POSITIVE REGULATION OF SYNAPTIC TRANSMISSION, GLUTAMATERGIC",0.000171644,0.005165214]
["GO:0051058","NEGATIVE REGULATION OF SMALL GTPASE MEDIATED SIGNAL TRANSDUCTION",{"v":4.11e-05,"d":"4.11E-05"},0.001861044]
["GO:0007098","CENTROSOME CYCLE",{"v":8.25e-06,"d":"8.25E-06"},0.000578703]
["GO:0002218","ACTIVATION OF INNATE IMMUNE RESPONSE",0.00267735,0.039944712]
["GO:0021955","CENTRAL NERVOUS SYSTEM NEURON AXONOGENESIS",{"v":3.32e-05,"d":"3.32E-05"},1.575992E-3]
["GO:0009790","EMBRYO DEVELOPMENT",{"v":1.44e-05,"d":"1.44E-05"},0.000857505]
["GO:0048666","NEURON DEVELOPMENT",{"v":7.31e-10,"d":"7.31E-10"},{"v":4.3e-07,"d":"4.30E-07"}]
["GO:0010769","REGULATION OF CELL MORPHOGENESIS INVOLVED IN DIFFERENTIATION",{"v":2.52E-6,"d":"2.52E-06"},0.000235566]
["GO:0040012","REGULATION OF LOCOMOTION",{"v":1.61e-05,"d":"1.61E-05"},0.000931388]
["GO:0007610","BEHAVIOR",1.83585E-4,0.005463042]
["GO:0016525","NEGATIVE REGULATION OF ANGIOGENESIS",1.516894E-3,0.02613315]
["GO:2000310","REGULATION OF NMDA RECEPTOR ACTIVITY",1.193637E-3,0.022043493]
["GO:0031023","MICROTUBULE ORGANIZING CENTER ORGANIZATION",{"v":3e-05,"d":"3.00E-05"},0.001447864]
["GO:1902117","POSITIVE REGULATION OF ORGANELLE ASSEMBLY",1.463712E-3,0.025503348]
["GO:1902116","NEGATIVE REGULATION OF ORGANELLE ASSEMBLY",0.002209778,0.034720031]
["GO:0016570","HISTONE MODIFICATION",{"v":1.18e-05,"d":"1.18E-05"},0.000732227]
["GO:0022604","REGULATION OF CELL MORPHOGENESIS",{"v":3.61e-08,"d":"3.61E-08"},{"v":8.86e-06,"d":"8.86E-06"}]
["GO:0061564","AXON DEVELOPMENT",{"v":8.14e-07,"d":"8.14E-07"},{"v":8.88e-05,"d":"8.88E-05"}]
["GO:0060999","POSITIVE REGULATION OF DENDRITIC SPINE DEVELOPMENT",0.000698381,0.015353948]
["GO:1900449","REGULATION OF GLUTAMATE RECEPTOR SIGNALING PATHWAY",0.000387778,0.009441282]
["GO:0031110","REGULATION OF MICROTUBULE POLYMERIZATION OR DEPOLYMERIZATION",0.002133834,0.03411664]
["GO:1903311","REGULATION OF MRNA METABOLIC PROCESS",0.002164381,0.034373399]
["GO:0021987","CEREBRAL CORTEX DEVELOPMENT",{"v":2.81e-05,"d":"2.81E-05"},1.424792E-3]
["GO:0060537","MUSCLE TISSUE DEVELOPMENT",0.000620578,0.014009372]
["GO:0009887","ANIMAL ORGAN MORPHOGENESIS",0.002703508,0.0401236]
["GO:0044772","MITOTIC CELL CYCLE PHASE TRANSITION",{"v":3.36e-05,"d":"3.36E-05"},0.001585781]
["GO:0009792","EMBRYO DEVELOPMENT ENDING IN BIRTH OR EGG HATCHING",{"v":6.22e-05,"d":"6.22E-05"},0.002444032]
["GO:0042440","PIGMENT METABOLIC PROCESS",0.000130344,0.004243022]
["GO:0018193","PEPTIDYL-AMINO ACID MODIFICATION",0.000240827,0.006693184]
["GO:0007420","BRAIN DEVELOPMENT",{"v":1.81e-05,"d":"1.81E-05"},0.001008481]
["GO:0033013","TETRAPYRROLE METABOLIC PROCESS",0.001275582,0.023305497]
["GO:0000462","MATURATION OF SSU-RRNA FROM TRICISTRONIC RRNA TRANSCRIPT (SSU-RRNA, 5.8S RRNA, LSU-RRNA)",1.642758E-3,0.027813594]
["GO:0061001","REGULATION OF DENDRITIC SPINE MORPHOGENESIS",1.10623E-4,0.003706297]
["GO:0006417","REGULATION OF TRANSLATION",9.11928E-4,0.018338158]
["GO:0030029","ACTIN FILAMENT-BASED PROCESS",1.382203E-3,0.024753625]
["GO:0097485","NEURON PROJECTION GUIDANCE",{"v":8.24e-06,"d":"8.24E-06"},0.000578703]
["GO:0034765","REGULATION OF ION TRANSMEMBRANE TRANSPORT",2.463542E-3,0.037799975]
["GO:0045664","REGULATION OF NEURON DIFFERENTIATION",{"v":4.96e-08,"d":"4.96E-08"},{"v":1.08E-5,"d":"1.08E-05"}]
["GO:0048858","CELL PROJECTION MORPHOGENESIS",{"v":2.57e-11,"d":"2.57E-11"},{"v":6.26e-08,"d":"6.26E-08"}]
["GO:0050804","MODULATION OF CHEMICAL SYNAPTIC TRANSMISSION",{"v":8.11e-05,"d":"8.11E-05"},0.002930521]
["GO:0045939","NEGATIVE REGULATION OF STEROID METABOLIC PROCESS",0.001974924,0.032349886]
["GO:0042391","REGULATION OF MEMBRANE POTENTIAL",0.000297357,0.007856638]
["GO:0034754","CELLULAR HORMONE METABOLIC PROCESS",0.002959757,0.042637862]
["GO:0000819","SISTER CHROMATID SEGREGATION",0.000766846,0.016370498]
["GO:0061028","ESTABLISHMENT OF ENDOTHELIAL BARRIER",1.39667E-4,0.004400623]
["GO:1905269","POSITIVE REGULATION OF CHROMATIN ORGANIZATION",0.00129198,0.023494902]
["GO:0010638","POSITIVE REGULATION OF ORGANELLE ORGANIZATION",0.000227208,0.006498589]
["GO:0090311","REGULATION OF PROTEIN DEACETYLATION",0.000598032,0.013604644]
["GO:0048511","RHYTHMIC PROCESS",1.05011E-4,3.560952E-3]
["GO:0051965","POSITIVE REGULATION OF SYNAPSE ASSEMBLY",0.000974186,0.019069458]
["GO:0032989","CELLULAR COMPONENT MORPHOGENESIS",{"v":3.18e-11,"d":"3.18E-11"},{"v":6.26e-08,"d":"6.26E-08"}]
["GO:0050890","COGNITION",{"v":6.3E-7,"d":"6.30E-07"},{"v":7.43e-05,"d":"7.43E-05"}]
["GO:0061061","MUSCLE STRUCTURE DEVELOPMENT",{"v":8.56e-06,"d":"8.56E-06"},0.000586754]
["GO:0000086","G2/M TRANSITION OF MITOTIC CELL CYCLE",{"v":8.74e-06,"d":"8.74E-06"},0.000591873]
["GO:0010633","NEGATIVE REGULATION OF EPITHELIAL CELL MIGRATION",0.002677896,0.039944712]
["GO:0048732","GLAND DEVELOPMENT",1.443637E-3,0.025315198]
["GO:0006778","PORPHYRIN-CONTAINING COMPOUND METABOLIC PROCESS",0.002209778,0.034720031]
["GO:0044839","CELL CYCLE G2/M PHASE TRANSITION",{"v":1.07e-05,"d":"1.07E-05"},0.000677101]
["GO:0048514","BLOOD VESSEL MORPHOGENESIS",0.000997915,0.019277757]
["GO:0051235","MAINTENANCE OF LOCATION",1.043464E-3,0.019961339]
["GO:0016569","COVALENT CHROMATIN MODIFICATION",{"v":2.95e-06,"d":"2.95E-06"},0.000272043]
["GO:0050808","SYNAPSE ORGANIZATION",0.00080478,0.016897785]
["GO:0021537","TELENCEPHALON DEVELOPMENT",{"v":3.08e-06,"d":"3.08E-06"},0.000279342]
["GO:0022402","CELL CYCLE PROCESS",{"v":5.17e-07,"d":"5.17E-07"},{"v":6.49e-05,"d":"6.49E-05"}]
["GO:0099177","REGULATION OF TRANS-SYNAPTIC SIGNALING",{"v":8.47e-05,"d":"8.47E-05"},0.003025203]
["GO:0051495","POSITIVE REGULATION OF CYTOSKELETON ORGANIZATION",0.00293908,0.042494007]
["GO:0051091","POSITIVE REGULATION OF DNA-BINDING TRANSCRIPTION FACTOR ACTIVITY",1.24776E-4,0.00408433]
["GO:0006063","URONIC ACID METABOLIC PROCESS",{"v":5.65e-09,"d":"5.65E-09"},{"v":2.36e-06,"d":"2.36E-06"}]
["GO:0044380","PROTEIN LOCALIZATION TO CYTOSKELETON",0.002543171,0.038719286]
["GO:0043044","ATP-DEPENDENT CHROMATIN REMODELING",0.003292286,0.046630163]
["GO:0007167","ENZYME LINKED RECEPTOR PROTEIN SIGNALING PATHWAY",0.000138636,0.004391623]
["GO:0001885","ENDOTHELIAL CELL DEVELOPMENT",2.612095E-3,0.039261392]
["GO:1903047","MITOTIC CELL CYCLE PROCESS",{"v":8.8e-07,"d":"8.80E-07"},{"v":9.43e-05,"d":"9.43E-05"}]
["GO:0007369","GASTRULATION",0.000661498,0.014819558]
["GO:0001704","FORMATION OF PRIMARY GERM LAYER",0.000846235,0.017372877]
["GO:1902850","MICROTUBULE CYTOSKELETON ORGANIZATION INVOLVED IN MITOSIS",2.941108E-3,0.042494007]
["GO:0051093","NEGATIVE REGULATION OF DEVELOPMENTAL PROCESS",0.002522298,0.038500986]
["GO:0031647","REGULATION OF PROTEIN STABILITY",0.000382404,0.009349073]
["GO:0120032","REGULATION OF PLASMA MEMBRANE BOUNDED CELL PROJECTION ASSEMBLY",0.002819634,0.041373796]
["GO:0140014","MITOTIC NUCLEAR DIVISION",0.002581541,0.039001134]
["GO:0021954","CENTRAL NERVOUS SYSTEM NEURON DEVELOPMENT",0.000214703,0.006262514]
["GO:0045666","POSITIVE REGULATION OF NEURON DIFFERENTIATION",{"v":4.72e-06,"d":"4.72E-06"},3.85972E-4]
["GO:0003158","ENDOTHELIUM DEVELOPMENT",2.144984E-3,0.034157423]
["GO:1901990","REGULATION OF MITOTIC CELL CYCLE PHASE TRANSITION",{"v":5.25e-05,"d":"5.25E-05"},0.002191899]
["GO:0060291","LONG-TERM SYNAPTIC POTENTIATION",0.002326587,0.036074351]
["GO:0022406","MEMBRANE DOCKING",0.000878699,0.017852737]
["GO:0007409","AXONOGENESIS",{"v":8.55e-08,"d":"8.55E-08"},{"v":1.62e-05,"d":"1.62E-05"}]
["GO:0016055","WNT SIGNALING PATHWAY",0.0001413,4.404959E-3]
["GO:0031175","NEURON PROJECTION DEVELOPMENT",{"v":1.76e-10,"d":"1.76E-10"},{"v":1.49E-7,"d":"1.49E-07"}]
["GO:0006482","PROTEIN DEMETHYLATION",{"v":1.27E-5,"d":"1.27E-05"},7.70051E-4]
["GO:0018209","PEPTIDYL-SERINE MODIFICATION",0.003275272,0.046613293]
["GO:0006338","CHROMATIN REMODELING",{"v":2.83E-5,"d":"2.83E-05"},1.424792E-3]
["GO:0030177","POSITIVE REGULATION OF WNT SIGNALING PATHWAY",0.000730059,0.015990736]
["GO:0030182","NEURON DIFFERENTIATION",{"v":3.74e-09,"d":"3.74E-09"},{"v":1.84E-6,"d":"1.84E-06"}]
["GO:0051298","CENTROSOME DUPLICATION",{"v":9.72e-06,"d":"9.72E-06"},0.000638506]
["GO:0001944","VASCULATURE DEVELOPMENT",{"v":3.18E-5,"d":"3.18E-05"},1.521765E-3]
["GO:0051642","CENTROSOME LOCALIZATION",{"v":4.33e-05,"d":"4.33E-05"},1.890161E-3]
["GO:1905114","CELL SURFACE RECEPTOR SIGNALING PATHWAY INVOLVED IN CELL-CELL SIGNALING",1.13465E-4,3.753382E-3]
["GO:0051703","INTRASPECIES INTERACTION BETWEEN ORGANISMS",0.000788421,0.016650096]
["GO:0007346","REGULATION OF MITOTIC CELL CYCLE",{"v":6.39e-06,"d":"6.39E-06"},0.000470577]
["GO:0046785","MICROTUBULE POLYMERIZATION",1.00782E-3,0.019358878]
["GO:0048667","CELL MORPHOGENESIS INVOLVED IN NEURON DIFFERENTIATION",{"v":4.17e-08,"d":"4.17E-08"},{"v":9.8200000000000008E-6,"d":"9.82E-06"}]
["GO:0060322","HEAD DEVELOPMENT",{"v":5.45e-06,"d":"5.45E-06"},0.000427379]
["GO:0070507","REGULATION OF MICROTUBULE CYTOSKELETON ORGANIZATION",{"v":2.13e-08,"d":"2.13E-08"},{"v":6.61e-06,"d":"6.61E-06"}]
["GO:0098534","CENTRIOLE ASSEMBLY",1.9269E-4,0.005676658]
["GO:0045787","POSITIVE REGULATION OF CELL CYCLE",0.001375583,0.024710168]
["GO:0050821","PROTEIN STABILIZATION",2.376838E-3,0.036660547]
["GO:1901987","REGULATION OF CELL CYCLE PHASE TRANSITION",{"v":9.66e-05,"d":"9.66E-05"},0.003307812]
["GO:0050807","REGULATION OF SYNAPSE ORGANIZATION",0.000541773,0.012567426]
["GO:0045786","NEGATIVE REGULATION OF CELL CYCLE",0.000739334,0.016051581]
["GO:1902749","REGULATION OF CELL CYCLE G2/M PHASE TRANSITION",0.00096265,0.018969683]
["GO:0120039","PLASMA MEMBRANE BOUNDED CELL PROJECTION MORPHOGENESIS",{"v":2.2e-11,"d":"2.20E-11"},{"v":6.26e-08,"d":"6.26E-08"}]
["GO:0048598","EMBRYONIC MORPHOGENESIS",0.000380521,0.00934179]
["GO:1902532","NEGATIVE REGULATION OF INTRACELLULAR SIGNAL TRANSDUCTION",0.000808348,0.016897785]
["GO:0032990","CELL PART MORPHOGENESIS",{"v":1.22e-10,"d":"1.22E-10"},{"v":1.44e-07,"d":"1.44E-07"}]
["GO:0051961","NEGATIVE REGULATION OF NERVOUS SYSTEM DEVELOPMENT",0.00097869,0.019079754]
["GO:0002758","INNATE IMMUNE RESPONSE-ACTIVATING SIGNAL TRANSDUCTION",0.002281975,0.035569836]
["GO:0098813","NUCLEAR CHROMOSOME SEGREGATION",0.002801561,0.041267001]
["GO:0050803","REGULATION OF SYNAPSE STRUCTURE OR ACTIVITY",3.39613E-4,0.008662344]
["GO:0099601","REGULATION OF NEUROTRANSMITTER RECEPTOR ACTIVITY",2.4456E-4,0.006731727]
["GO:0044057","REGULATION OF SYSTEM PROCESS",0.001991944,0.032511179]
["GO:0060998","REGULATION OF DENDRITIC SPINE DEVELOPMENT",{"v":4.33e-05,"d":"4.33E-05"},1.890161E-3]
["GO:0044089","POSITIVE REGULATION OF CELLULAR COMPONENT BIOGENESIS",{"v":8.86e-05,"d":"8.86E-05"},0.003144604]
["GO:0032970","REGULATION OF ACTIN FILAMENT-BASED PROCESS",0.002111601,0.033993307]
["GO:0071514","GENETIC IMPRINTING",0.000149168,0.004601558]
["GO:0008214","PROTEIN DEALKYLATION",{"v":1.27E-5,"d":"1.27E-05"},7.70051E-4]
["GO:0031648","PROTEIN DESTABILIZATION",0.001081263,0.020354001]
["GO:0060284","REGULATION OF CELL DEVELOPMENT",{"v":9.51e-09,"d":"9.51E-09"},{"v":3.5e-06,"d":"3.50E-06"}]
["GO:0040007","GROWTH",{"v":1.51e-05,"d":"1.51E-05"},0.000888575]
["GO:0072359","CIRCULATORY SYSTEM DEVELOPMENT",{"v":4.2e-05,"d":"4.20E-05"},0.00188767]
["GO:1901342","REGULATION OF VASCULATURE DEVELOPMENT",0.000761993,0.016326043]
["GO:0120031","PLASMA MEMBRANE BOUNDED CELL PROJECTION ASSEMBLY",0.000322309,0.008365842]
["GO:0060491","REGULATION OF CELL PROJECTION ASSEMBLY",0.003116773,0.044681333]
["GO:0006325","CHROMATIN ORGANIZATION",{"v":6.71e-07,"d":"6.71E-07"},{"v":7.76e-05,"d":"7.76E-05"}]
["GO:0090068","POSITIVE REGULATION OF CELL CYCLE PROCESS",0.000874929,0.017837659]
["GO:0060996","DENDRITIC SPINE DEVELOPMENT",0.000475285,0.011383655]
["GO:0001706","ENDODERM FORMATION",0.001612174,0.027533135]
["GO:0072698","PROTEIN LOCALIZATION TO MICROTUBULE CYTOSKELETON",1.193637E-3,0.022043493]
["GO:0021953","CENTRAL NERVOUS SYSTEM NEURON DIFFERENTIATION",9.33639E-4,0.01852188]
["GO:0035637","MULTICELLULAR ORGANISMAL SIGNALING",1.443083E-3,0.025315198]
["GO:0031109","MICROTUBULE POLYMERIZATION OR DEPOLYMERIZATION",0.002326587,0.036074351]
["GO:0023014","SIGNAL TRANSDUCTION BY PROTEIN PHOSPHORYLATION",0.000677109,0.014998224]
["GO:0010721","NEGATIVE REGULATION OF CELL DEVELOPMENT",0.001170474,0.021824161]
["GO:0030048","ACTIN FILAMENT-BASED MOVEMENT",0.000780505,0.016601928]
["GO:0010564","REGULATION OF CELL CYCLE PROCESS",{"v":1.39e-07,"d":"1.39E-07"},{"v":2.41E-5,"d":"2.41E-05"}]
["GO:0050767","REGULATION OF NEUROGENESIS",{"v":6.01e-09,"d":"6.01E-09"},{"v":2.36e-06,"d":"2.36E-06"}]
["GO:0070925","ORGANELLE ASSEMBLY",{"v":8.07e-05,"d":"8.07E-05"},0.002930521]
["GO:0007612","LEARNING",0.002581541,0.039001134]
["GO:0021543","PALLIUM DEVELOPMENT",{"v":2.41E-5,"d":"2.41E-05"},0.001255448]
["GO:0010824","REGULATION OF CENTROSOME DUPLICATION",1.86028E-4,0.005507932]
["GO:0035987","ENDODERMAL CELL DIFFERENTIATION",0.000698381,0.015353948]
["GO:0010608","POSTTRANSCRIPTIONAL REGULATION OF GENE EXPRESSION",0.002611218,0.039261392]
["GO:0045597","POSITIVE REGULATION OF CELL DIFFERENTIATION",{"v":1.63e-06,"d":"1.63E-06"},0.000160955]
["GO:2000181","NEGATIVE REGULATION OF BLOOD VESSEL MORPHOGENESIS",0.001772876,0.029519697]
["GO:0060541","RESPIRATORY SYSTEM DEVELOPMENT",2.177909E-3,0.034495261]
["GO:0050769","POSITIVE REGULATION OF NEUROGENESIS",{"v":8.24e-08,"d":"8.24E-08"},{"v":1.62e-05,"d":"1.62E-05"}]
["GO:0043269","REGULATION OF ION TRANSPORT",0.000477313,0.011385933]
["GO:0030900","FOREBRAIN DEVELOPMENT",{"v":1.76e-05,"d":"1.76E-05"},0.00099023]
["GO:0043009","CHORDATE EMBRYONIC DEVELOPMENT",{"v":6.12e-05,"d":"6.12E-05"},0.002438185]
["GO:0010256","ENDOMEMBRANE SYSTEM ORGANIZATION",0.002122856,0.03408138]
["GO:0046580","NEGATIVE REGULATION OF RAS PROTEIN SIGNAL TRANSDUCTION",{"v":9.46e-05,"d":"9.46E-05"},0.003279651]
["GO:0120035","REGULATION OF PLASMA MEMBRANE BOUNDED CELL PROJECTION ORGANIZATION",{"v":1.82e-08,"d":"1.82E-08"},{"v":5.97e-06,"d":"5.97E-06"}]
["GO:0031346","POSITIVE REGULATION OF CELL PROJECTION ORGANIZATION",{"v":3.73e-06,"d":"3.73E-06"},0.000323054]
["GO:0000122","NEGATIVE REGULATION OF TRANSCRIPTION BY RNA POLYMERASE II",0.000747703,0.016137244]
["GO:0072358","CARDIOVASCULAR SYSTEM DEVELOPMENT",{"v":5.05e-05,"d":"5.05E-05"},0.002139584]
["GO:0070647","PROTEIN MODIFICATION BY SMALL PROTEIN CONJUGATION OR REMOVAL",0.001311999,0.023712577]
["GO:0051090","REGULATION OF DNA-BINDING TRANSCRIPTION FACTOR ACTIVITY",0.000502972,0.011759961]
["GO:0031056","REGULATION OF HISTONE MODIFICATION",{"v":8.28e-05,"d":"8.28E-05"},0.002975193]
["GO:0032886","REGULATION OF MICROTUBULE-BASED PROCESS",{"v":1.23E-7,"d":"1.23E-07"},{"v":2.2e-05,"d":"2.20E-05"}]
["GO:0048646","ANATOMICAL STRUCTURE FORMATION INVOLVED IN MORPHOGENESIS",{"v":3.36E-6,"d":"3.36E-06"},0.000300124]
["GO:0001655","UROGENITAL SYSTEM DEVELOPMENT",0.003500284,0.049338931]
["GO:0035176","SOCIAL BEHAVIOR",0.000788421,0.016650096]
["GO:0045665","NEGATIVE REGULATION OF NEURON DIFFERENTIATION",0.000605612,0.013724099]
["GO:0051129","NEGATIVE REGULATION OF CELLULAR COMPONENT ORGANIZATION",{"v":5.57e-07,"d":"5.57E-07"},{"v":6.7e-05,"d":"6.70E-05"}]
["GO:0051493","REGULATION OF CYTOSKELETON ORGANIZATION",{"v":1.79E-7,"d":"1.79E-07"},{"v":2.92e-05,"d":"2.92E-05"}]
["GO:0034113","HETEROTYPIC CELL-CELL ADHESION",1.642758E-3,0.027813594]
["GO:0019585","GLUCURONATE METABOLIC PROCESS",{"v":5.65e-09,"d":"5.65E-09"},{"v":2.36e-06,"d":"2.36E-06"}]
["GO:0090066","REGULATION OF ANATOMICAL STRUCTURE SIZE",0.002242458,0.03513979]
["GO:0007051","SPINDLE ORGANIZATION",0.000134944,0.004344759]
["GO:0035239","TUBE MORPHOGENESIS",0.00022623,0.006498589]
["GO:0048813","DENDRITE MORPHOGENESIS",1.008686E-3,0.019358878]
["GO:0051301","CELL DIVISION",{"v":6.73e-05,"d":"6.73E-05"},0.002558362]
["GO:0051270","REGULATION OF CELLULAR COMPONENT MOVEMENT",{"v":9.86e-06,"d":"9.86E-06"},0.000638506]
["GO:0045995","REGULATION OF EMBRYONIC DEVELOPMENT",0.002700935,0.0401236]
["GO:2000145","REGULATION OF CELL MOTILITY",{"v":7.19e-05,"d":"7.19E-05"},0.002682928]
["GO:0042573","RETINOIC ACID METABOLIC PROCESS",0.000245642,0.006731727]
["GO:0010720","POSITIVE REGULATION OF CELL DEVELOPMENT",{"v":3.23e-08,"d":"3.23E-08"},{"v":8.43e-06,"d":"8.43E-06"}]
["GO:0031646","POSITIVE REGULATION OF NEUROLOGICAL SYSTEM PROCESS",0.000300118,7.894178E-3]
["GO:0010639","NEGATIVE REGULATION OF ORGANELLE ORGANIZATION",0.000105161,3.560952E-3]
["GO:0000904","CELL MORPHOGENESIS INVOLVED IN DIFFERENTIATION",{"v":1.94e-09,"d":"1.94E-09"},{"v":1.04E-6,"d":"1.04E-06"}]
["GO:0051962","POSITIVE REGULATION OF NERVOUS SYSTEM DEVELOPMENT",{"v":7.66e-08,"d":"7.66E-08"},{"v":1.56E-5,"d":"1.56E-05"}]
["GO:0031344","REGULATION OF CELL PROJECTION ORGANIZATION",{"v":2.88E-8,"d":"2.88E-08"},{"v":8.07e-06,"d":"8.07E-06"}]
["GO:0006468","PROTEIN PHOSPHORYLATION",3.43E-10,{"v":2.25e-07,"d":"2.25E-07"}]
["GO:0045833","NEGATIVE REGULATION OF LIPID METABOLIC PROCESS",0.002550056,0.038724042]
["GO:0044770","CELL CYCLE PHASE TRANSITION",{"v":5.5e-05,"d":"5.50E-05"},0.002221576]
["GO:0055003","CARDIAC MYOFIBRIL ASSEMBLY",0.001974924,0.032349886]
["GO:0043547","POSITIVE REGULATION OF GTPASE ACTIVITY",0.000365784,0.009017576]
["GO:0030334","REGULATION OF CELL MIGRATION",1.3851E-4,0.004391623]
["GO:0001656","METANEPHROS DEVELOPMENT",0.000974118,0.019069458]
["GO:0000902","CELL MORPHOGENESIS",{"v":2.66e-10,"d":"2.66E-10"},{"v":1.96e-07,"d":"1.96E-07"}]
["GO:0007613","MEMORY",0.000400838,9.685127E-3]
["GO:0098693","REGULATION OF SYNAPTIC VESICLE CYCLE",{"v":9.14e-05,"d":"9.14E-05"},0.003204435]
["GO:0018105","PEPTIDYL-SERINE PHOSPHORYLATION",0.002425186,0.037308613]
["GO:0050773","REGULATION OF DENDRITE DEVELOPMENT",0.000822387,0.017121914]
["GO:0035295","TUBE DEVELOPMENT",0.000808753,0.016897785]
["GO:0099175","REGULATION OF POSTSYNAPSE ORGANIZATION",{"v":6.62e-05,"d":"6.62E-05"},0.002547282]
["GO:0098727","MAINTENANCE OF CELL NUMBER",0.001544022,0.026445863]
["GO:0061842","MICROTUBULE ORGANIZING CENTER LOCALIZATION",{"v":5.59e-05,"d":"5.59E-05"},0.00224083]
["GO:0000278","MITOTIC CELL CYCLE",{"v":1.78e-07,"d":"1.78E-07"},{"v":2.92e-05,"d":"2.92E-05"}]
["GO:0032880","REGULATION OF PROTEIN LOCALIZATION",0.001404681,0.024878268]
["GO:0050768","NEGATIVE REGULATION OF NEUROGENESIS",9.16445E-4,0.018366302]
["GO:0070988","DEMETHYLATION",0.001976571,0.032349886]
["GO:0070076","HISTONE LYSINE DEMETHYLATION",{"v":5.51e-06,"d":"5.51E-06"},0.000427379]
["GO:0019827","STEM CELL POPULATION MAINTENANCE",0.001347683,0.024283021]
["GO:0007018","MICROTUBULE-BASED MOVEMENT",0.000341945,0.008676089]
["GO:0032412","REGULATION OF ION TRANSMEMBRANE TRANSPORTER ACTIVITY",0.002136633,0.03411664]
["GO:0010975","REGULATION OF NEURON PROJECTION DEVELOPMENT",{"v":3.49e-07,"d":"3.49E-07"},{"v":4.67e-05,"d":"4.67E-05"}]
["GO:0001525","ANGIOGENESIS",2.888074E-3,0.042224646]
["GO:0010976","POSITIVE REGULATION OF NEURON PROJECTION DEVELOPMENT",{"v":9.98e-06,"d":"9.98E-06"},0.000639228]
["GO:0007417","CENTRAL NERVOUS SYSTEM DEVELOPMENT",{"v":1.63e-06,"d":"1.63E-06"},0.000160955]
["GO:0007169","TRANSMEMBRANE RECEPTOR PROTEIN TYROSINE KINASE SIGNALING PATHWAY",{"v":2.56e-05,"d":"2.56E-05"},0.001310391]
["GO:2001252","POSITIVE REGULATION OF CHROMOSOME ORGANIZATION",0.000266311,0.007230903]
["GO:1904837","BETA-CATENIN-TCF COMPLEX ASSEMBLY",0.000580659,0.013312228]
["GO:0007411","AXON GUIDANCE",{"v":7.17E-6,"d":"7.17E-06"},0.000521363]
["GO:0046599","REGULATION OF CENTRIOLE REPLICATION",{"v":9.78e-06,"d":"9.78E-06"},0.000638506]
["GO:0010771","NEGATIVE REGULATION OF CELL MORPHOGENESIS INVOLVED IN DIFFERENTIATION",0.000923817,0.01845128]
["GO:0051983","REGULATION OF CHROMOSOME SEGREGATION",0.000111348,0.003706564]
["GO:0033044","REGULATION OF CHROMOSOME ORGANIZATION",{"v":1.83e-07,"d":"1.83E-07"},{"v":2.92e-05,"d":"2.92E-05"}]
["GO:0048812","NEURON PROJECTION MORPHOGENESIS",5.29E-11,{"v":7.8e-08,"d":"7.80E-08"}]
["GO:1902115","REGULATION OF ORGANELLE ASSEMBLY",{"v":1.88E-5,"d":"1.88E-05"},1.014528E-3]
["GO:1902275","REGULATION OF CHROMATIN ORGANIZATION",{"v":1.87e-05,"d":"1.87E-05"},1.014528E-3]
["GO:0031345","NEGATIVE REGULATION OF CELL PROJECTION ORGANIZATION",3.48131E-4,8.728464E-3]
["GO:0010389","REGULATION OF G2/M TRANSITION OF MITOTIC CELL CYCLE",0.000358507,0.008875299]
["GO:0098609","CELL-CELL ADHESION",0.000401081,9.685127E-3]
["GO:0007059","CHROMOSOME SEGREGATION",1.47777E-4,0.004582653]
["GO:0045165","CELL FATE COMMITMENT",1.200944E-3,0.022043493]
["GO:0016358","DENDRITE DEVELOPMENT",0.00020087,0.005888179]
["GO:0043087","REGULATION OF GTPASE ACTIVITY",0.000276368,0.007402211]
["GO:0016577","HISTONE DEMETHYLATION",{"v":7.37e-06,"d":"7.37E-06"},0.000529301]
["GO:0048589","DEVELOPMENTAL GROWTH",{"v":1.16e-05,"d":"1.16E-05"},0.000724026]
["GO:0001568","BLOOD VESSEL DEVELOPMENT",{"v":6.19E-5,"d":"6.19E-05"},0.002444032]
["GO:0030155","REGULATION OF CELL ADHESION",0.000351166,0.008767243]
["GO:0097711","CILIARY BASAL BODY-PLASMA MEMBRANE DOCKING",0.000221958,0.006410676]
["GO:0022610","BIOLOGICAL ADHESION",{"v":6.17e-08,"d":"6.17E-08"},{"v":1.3e-05,"d":"1.30E-05"}]
["GO:0048814","REGULATION OF DENDRITE MORPHOGENESIS",0.001670076,0.028195087]
["GO:0098815","MODULATION OF EXCITATORY POSTSYNAPTIC POTENTIAL",{"v":1.42E-6,"d":"1.42E-06"},1.47255E-4]
["GO:0060828","REGULATION OF CANONICAL WNT SIGNALING PATHWAY",3.061018E-3,0.043989062]
["GO:0007017","MICROTUBULE-BASED PROCESS",{"v":2.57e-08,"d":"2.57E-08"},{"v":7.56e-06,"d":"7.56E-06"}]
["GO:0060795","CELL FATE COMMITMENT INVOLVED IN FORMATION OF PRIMARY GERM LAYER",{"v":4.33e-05,"d":"4.33E-05"},1.890161E-3]
["GO:0050806","POSITIVE REGULATION OF SYNAPTIC TRANSMISSION",{"v":5.49E-5,"d":"5.49E-05"},0.002221576]
["GO:0000165","MAPK CASCADE",0.001403158,0.024878268]
["GO:0006513","PROTEIN MONOUBIQUITINATION",0.001976571,0.032349886]
["GO:0031644","REGULATION OF NEUROLOGICAL SYSTEM PROCESS",0.000459729,0.011056008]
["GO:0021952","CENTRAL NERVOUS SYSTEM PROJECTION NEURON AXONOGENESIS",{"v":2.5e-05,"d":"2.50E-05"},1.292671E-3]
["GO:0045446","ENDOTHELIAL CELL DIFFERENTIATION",0.000885592,0.017930955]
["GO:0030111","REGULATION OF WNT SIGNALING PATHWAY",0.00074101,0.016051581]
["GO:0046605","REGULATION OF CENTROSOME CYCLE",{"v":9.3e-06,"d":"9.30E-06"},0.000622543]
["GO:0036477","SOMATODENDRITIC COMPARTMENT",0.000240827,0.006693184]
["GO:0005814","CENTRIOLE",0.000534273,0.012442431]
["GO:0005813","CENTROSOME",{"v":1.07e-06,"d":"1.07E-06"},1.12312E-4]
["GO:0030686","90S PRERIBOSOME",0.000845042,0.017372877]
["GO:0005819","SPINDLE",{"v":2.96e-05,"d":"2.96E-05"},0.001447864]
["GO:0014069","POSTSYNAPTIC DENSITY",{"v":7.35e-05,"d":"7.35E-05"},0.002717509]
["GO:0097447","DENDRITIC TREE",0.000277646,0.007402211]
["GO:0005929","CILIUM",0.000595729,0.013604644]
["GO:0044304","MAIN AXON",{"v":3.76e-05,"d":"3.76E-05"},0.001731313]
["GO:0098685","SCHAFFER COLLATERAL - CA1 SYNAPSE",0.003292286,0.046630163]
["GO:0000793","CONDENSED CHROMOSOME",3.39613E-4,0.008662344]
["GO:0016604","NUCLEAR BODY",8.27245E-4,0.01716243]
["GO:0043194","AXON INITIAL SEGMENT",0.000671864,0.0149382]
["GO:0045177","APICAL PART OF CELL",2.28915E-4,0.006515773]
["GO:0098794","POSTSYNAPSE",0.000277646,0.007402211]
["GO:0005911","CELL-CELL JUNCTION",1.60326E-4,4.894504E-3]
["GO:0015629","ACTIN CYTOSKELETON",0.000897234,0.018104466]
["GO:0099080","SUPRAMOLECULAR COMPLEX",{"v":5.1e-06,"d":"5.10E-06"},0.000406352]
["GO:0030424","AXON",{"v":2.7e-07,"d":"2.70E-07"},{"v":3.97e-05,"d":"3.97E-05"}]
["GO:0016324","APICAL PLASMA MEMBRANE",3.43097E-4,0.008676089]
["GO:0033267","AXON PART",{"v":3.39e-05,"d":"3.39E-05"},0.001587323]
["GO:0005874","MICROTUBULE",{"v":2.05e-06,"d":"2.05E-06"},0.000194826]
["GO:0072686","MITOTIC SPINDLE",1.516894E-3,0.02613315]
["GO:0099081","SUPRAMOLECULAR POLYMER",{"v":4.93e-06,"d":"4.93E-06"},3.9826E-4]
["GO:0030027","LAMELLIPODIUM",0.000736526,0.016051581]
["GO:0044427","CHROMOSOMAL PART",2.18197E-4,0.006333082]
["GO:0098984","NEURON TO NEURON SYNAPSE",{"v":4.07E-5,"d":"4.07E-05"},1.858075E-3]
["GO:0005815","MICROTUBULE ORGANIZING CENTER",{"v":1.53e-10,"d":"1.53E-10"},{"v":1.49E-7,"d":"1.49E-07"}]
["GO:0000775","CHROMOSOME, CENTROMERIC REGION",0.000929785,0.01850775]
["GO:0000228","NUCLEAR CHROMOSOME",0.00205197,0.033214861]
["GO:0099572","POSTSYNAPTIC SPECIALIZATION",0.000240004,0.006693184]
["GO:0044450","MICROTUBULE ORGANIZING CENTER PART",{"v":4.52e-05,"d":"4.52E-05"},0.001956693]
["GO:0014704","INTERCALATED DISC",{"v":9.46e-05,"d":"9.46E-05"},0.003279651]
["GO:0044291","CELL-CELL CONTACT ZONE",0.000309297,0.008063618]
["GO:0030425","DENDRITE",0.000259816,0.007087204]
["GO:0099512","SUPRAMOLECULAR FIBER",{"v":3.89E-6,"d":"3.89E-06"},3.32045E-4]
["GO:0031252","CELL LEADING EDGE",0.002356513,0.036442457]
["GO:0000922","SPINDLE POLE",{"v":9.62e-05,"d":"9.62E-05"},0.003307812]
["GO:0005730","NUCLEOLUS",0.0005456,0.012606563]
["GO:0005875","MICROTUBULE ASSOCIATED COMPLEX",0.001401484,0.024878268]
["GO:0098687","CHROMOSOMAL REGION",0.002772003,0.041036793]
["GO:0044456","SYNAPSE PART",1.685406E-3,0.028372601]
["GO:0097431","MITOTIC SPINDLE POLE",0.002822856,0.041373796]
["GO:0032279","ASYMMETRIC SYNAPSE",{"v":9.05e-05,"d":"9.05E-05"},3.193562E-3]
["GO:0099513","POLYMERIC CYTOSKELETAL FIBER",{"v":5.38E-5,"d":"5.38E-05"},0.002216725]
["GO:0003712","TRANSCRIPTION COREGULATOR ACTIVITY",0.000671334,0.0149382]
["GO:0008289","LIPID BINDING",0.000271941,0.00734989]
["GO:0003725","DOUBLE-STRANDED RNA BINDING",0.001773587,0.029519697]
["GO:0005272","SODIUM CHANNEL ACTIVITY",3.321446E-3,0.046930358]
["GO:0035255","IONOTROPIC GLUTAMATE RECEPTOR BINDING",1.193637E-3,0.022043493]
["GO:0008026","ATP-DEPENDENT HELICASE ACTIVITY",4.82096E-4,0.011407663]
["GO:0005501","RETINOID BINDING",{"v":1.87e-05,"d":"1.87E-05"},1.014528E-3]
["GO:0016772","TRANSFERASE ACTIVITY, TRANSFERRING PHOSPHORUS-CONTAINING GROUPS",{"v":2.92e-05,"d":"2.92E-05"},0.001446856]
["GO:0050321","TAU-PROTEIN KINASE ACTIVITY",0.001073158,0.020354001]
["GO:0000976","TRANSCRIPTION REGULATORY REGION SEQUENCE-SPECIFIC DNA BINDING",0.000240441,0.006693184]
["GO:0042623","ATPASE ACTIVITY, COUPLED",{"v":1.83e-06,"d":"1.83E-06"},0.000176998]
["GO:0016757","TRANSFERASE ACTIVITY, TRANSFERRING GLYCOSYL GROUPS",0.000244192,0.006731727]
["GO:0016301","KINASE ACTIVITY",{"v":4.42E-6,"d":"4.42E-06"},0.000366904]
["GO:0001067","REGULATORY REGION NUCLEIC ACID BINDING",0.000354185,0.008805311]
["GO:0008270","ZINC ION BINDING",1.467351E-3,0.025503348]
["GO:0003690","DOUBLE-STRANDED DNA BINDING",{"v":1.56E-5,"d":"1.56E-05"},0.000911463]
["GO:0004842","UBIQUITIN-PROTEIN TRANSFERASE ACTIVITY",0.000625121,0.014058074]
["GO:0030551","CYCLIC NUCLEOTIDE BINDING",0.002209778,0.034720031]
["GO:0004003","ATP-DEPENDENT DNA HELICASE ACTIVITY",0.002912934,0.042482687]
["GO:0042393","HISTONE BINDING",{"v":3.63E-6,"d":"3.63E-06"},0.000319376]
["GO:0005096","GTPASE ACTIVATOR ACTIVITY",{"v":5.5e-05,"d":"5.50E-05"},0.002221576]
["GO:0016817","HYDROLASE ACTIVITY, ACTING ON ACID ANHYDRIDES",{"v":1.69e-05,"d":"1.69E-05"},0.000957352]
["GO:0015020","GLUCURONOSYLTRANSFERASE ACTIVITY",{"v":2.7e-07,"d":"2.70E-07"},{"v":3.97e-05,"d":"3.97E-05"}]
["GO:0031267","SMALL GTPASE BINDING",{"v":6.32e-05,"d":"6.32E-05"},2.451581E-3]
["GO:0035254","GLUTAMATE RECEPTOR BINDING",0.002065736,0.033346076]
["GO:0051020","GTPASE BINDING",{"v":6.66e-05,"d":"6.66E-05"},0.002547282]
["GO:0070035","PURINE NTP-DEPENDENT HELICASE ACTIVITY",4.82096E-4,0.011407663]
["GO:0017111","NUCLEOSIDE-TRIPHOSPHATASE ACTIVITY",1.32748E-4,0.004297535]
["GO:0008017","MICROTUBULE BINDING",2.82642E-4,0.007501469]
["GO:0035257","NUCLEAR HORMONE RECEPTOR BINDING",0.001493366,0.025879152]
["GO:0017048","RHO GTPASE BINDING",3.48131E-4,8.728464E-3]
["GO:0016818","HYDROLASE ACTIVITY, ACTING ON ACID ANHYDRIDES, IN PHOSPHORUS-CONTAINING ANHYDRIDES",{"v":1.69e-05,"d":"1.69E-05"},0.000957352]
["GO:0000977","RNA POLYMERASE II REGULATORY REGION SEQUENCE-SPECIFIC DNA BINDING",0.001080446,0.020354001]
["GO:0051427","HORMONE RECEPTOR BINDING",1.406053E-3,0.024878268]
["GO:0060589","NUCLEOSIDE-TRIPHOSPHATASE REGULATOR ACTIVITY",{"v":8.43e-06,"d":"8.43E-06"},0.000584368]
["GO:0003678","DNA HELICASE ACTIVITY",0.003263096,0.046552454]
["GO:0003682","CHROMATIN BINDING",{"v":3.95e-07,"d":"3.95E-07"},{"v":5.18e-05,"d":"5.18E-05"}]
["GO:0017016","RAS GTPASE BINDING",{"v":6.79e-05,"d":"6.79E-05"},0.00256307]
["GO:0019900","KINASE BINDING",{"v":4.69e-05,"d":"4.69E-05"},2.016267E-3]
["GO:0000987","PROXIMAL PROMOTER SEQUENCE-SPECIFIC DNA BINDING",{"v":6.93e-05,"d":"6.93E-05"},0.002598877]
["GO:0003774","MOTOR ACTIVITY",1.74329E-4,0.005213955]
["GO:0004386","HELICASE ACTIVITY",0.000170391,0.005165214]
["GO:0050839","CELL ADHESION MOLECULE BINDING",0.00169072,0.028380975]
["GO:0005088","RAS GUANYL-NUCLEOTIDE EXCHANGE FACTOR ACTIVITY",2.008138E-3,0.032684934]
["GO:0004674","PROTEIN SERINE/THREONINE KINASE ACTIVITY",{"v":7.16e-07,"d":"7.16E-07"},{"v":8.11e-05,"d":"8.11E-05"}]
["GO:0019901","PROTEIN KINASE BINDING",1.166226E-3,0.021813984]
["GO:0016462","PYROPHOSPHATASE ACTIVITY",{"v":2.92e-05,"d":"2.92E-05"},0.001446856]
["GO:0044212","TRANSCRIPTION REGULATORY REGION DNA BINDING",0.00033621,0.008650422]
["GO:0008047","ENZYME ACTIVATOR ACTIVITY",1.27761E-3,0.023305497]
["GO:0031406","CARBOXYLIC ACID BINDING",0.000862961,0.017654736]
["GO:0008134","TRANSCRIPTION FACTOR BINDING",1.166226E-3,0.021813984]
["GO:0016758","TRANSFERASE ACTIVITY, TRANSFERRING HEXOSYL GROUPS",{"v":2.33e-05,"d":"2.33E-05"},1.223862E-3]
["GO:0001012","RNA POLYMERASE II REGULATORY REGION DNA BINDING",0.001296217,0.023499419]
["GO:0008194","UDP-GLYCOSYLTRANSFERASE ACTIVITY",{"v":5.05e-05,"d":"5.05E-05"},0.002139584]
["GO:1990837","SEQUENCE-SPECIFIC DOUBLE-STRANDED DNA BINDING",0.000136173,0.004360489]
["GO:0046982","PROTEIN HETERODIMERIZATION ACTIVITY",0.002942558,0.042494007]
["GO:0019787","UBIQUITIN-LIKE PROTEIN TRANSFERASE ACTIVITY",0.000751116,0.016151725]
["GO:0000978","RNA POLYMERASE II PROXIMAL PROMOTER SEQUENCE-SPECIFIC DNA BINDING",{"v":7.87e-05,"d":"7.87E-05"},0.002881026]
["GO:0042803","PROTEIN HOMODIMERIZATION ACTIVITY",0.000234099,0.00663131]
["GO:0008092","CYTOSKELETAL PROTEIN BINDING",{"v":1.07e-07,"d":"1.07E-07"},{"v":1.98E-5,"d":"1.98E-05"}]
["GO:0016773","PHOSPHOTRANSFERASE ACTIVITY, ALCOHOL GROUP AS ACCEPTOR",{"v":6.2e-06,"d":"6.20E-06"},0.000462219]
["GO:0001227","DNA-BINDING TRANSCRIPTION REPRESSOR ACTIVITY, RNA POLYMERASE II-SPECIFIC",0.002627181,0.039387666]
["GO:0008013","BETA-CATENIN BINDING",0.001069763,0.020354001]
["GO:0015631","TUBULIN BINDING",{"v":5.93E-6,"d":"5.93E-06"},0.000447645]
["GO:0050681","ANDROGEN RECEPTOR BINDING",0.001081263,0.020354001]
["GO:0004672","PROTEIN KINASE ACTIVITY",{"v":7.83e-07,"d":"7.83E-07"},{"v":8.7e-05,"d":"8.70E-05"}]
["GO:0001972","RETINOIC ACID BINDING",{"v":2.23E-7,"d":"2.23E-07"},{"v":3.46e-05,"d":"3.46E-05"}]
["GO:0043177","ORGANIC ACID BINDING",1.621613E-3,0.027614287]
["GO:0032451","DEMETHYLASE ACTIVITY",{"v":5.1E-5,"d":"5.10E-05"},2.14445E-3]
["GO:0019840","ISOPRENOID BINDING",{"v":2.29e-05,"d":"2.29E-05"},0.001213503]
["GO:0016887","ATPASE ACTIVITY",{"v":4.77e-07,"d":"4.77E-07"},{"v":6.1e-05,"d":"6.10E-05"}]
["GO:0032452","HISTONE DEMETHYLASE ACTIVITY",{"v":4.07E-6,"d":"4.07E-06"},0.000342527]
["GO:0030695","GTPASE REGULATOR ACTIVITY",{"v":5.83e-06,"d":"5.83E-06"},4.45735E-4]
["GO:0003779","ACTIN BINDING",0.002513517,0.038466606]
["GO:0033293","MONOCARBOXYLIC ACID BINDING",{"v":7.38e-05,"d":"7.38E-05"},0.002717509]
["HSA00980","METABOLISM OF XENOBIOTICS BY CYTOCHROME P450",1.198908E-3,0.022043493]
["HSA00053","ASCORBATE AND ALDARATE METABOLISM",{"v":3.24e-07,"d":"3.24E-07"},{"v":4.43e-05,"d":"4.43E-05"}]
["HSA04510","FOCAL ADHESION",0.000171823,0.005165214]
["HSA05412","ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY (ARVC)",0.001773587,0.029519697]
["HSA00860","PORPHYRIN AND CHLOROPHYLL METABOLISM",{"v":2.29e-05,"d":"2.29E-05"},0.001213503]
["HSA00983","DRUG METABOLISM - OTHER ENZYMES",1.10711E-4,0.003706297]
["HSA00040","PENTOSE AND GLUCURONATE INTERCONVERSIONS",{"v":1.64E-6,"d":"1.64E-06"},0.000160955]
["HSA00982","DRUG METABOLISM - CYTOCHROME P450",1.463712E-3,0.025503348]
["HSA04710","CIRCADIAN RHYTHM - MAMMAL",{"v":1.36E-5,"d":"1.36E-05"},0.000818243]
["HSA00140","STEROID HORMONE BIOSYNTHESIS",{"v":3.5e-05,"d":"3.50E-05"},1.624169E-3]
["HSA00514","OTHER TYPES OF O-GLYCAN BIOSYNTHESIS",{"v":3.29e-08,"d":"3.29E-08"},{"v":8.43e-06,"d":"8.43E-06"}]
["HSA00830","RETINOL METABOLISM",1.14028E-4,3.753382E-3]
["HSA00500","STARCH AND SUCROSE METABOLISM",{"v":2.97E-5,"d":"2.97E-05"},0.001447864]
["HSA04512","ECM-RECEPTOR INTERACTION",0.000328095,0.008478664]

{"sheet":"ACC-early_childhood_adulthood","index":4,"n_rows":19,"n_cols":10,"rows_kept":19}
["Supplementary Table 5A: Enrichment of cluster genes with brain critical exons across different developmental stages"]
[null,"pathwayname","prenatal_CE","adulthood_CE","Universe","p_val","p_val_adj","Odds_ratio","Lower_CI","Upper_CI"]
[10,"Cluster2",5917.023857,3383.652087,309223,1.47E-154,{"v":4.99e-153,"d":"4.99E-153"},1.748488069,1.675806029,1.824580462]
[4,"Cluster13",6812.870775,4191.982107,309223,{"v":2.04e-140,"d":"2.04E-140"},{"v":6.92e-139,"d":"6.92E-139"},1.625212879,1.563445244,1.689587077]
[1,"Cluster10",5904.644135,3688.107356,309223,{"v":2.38e-115,"d":"2.38E-115"},{"v":8.11e-114,"d":"8.11E-114"},1.601107888,1.536240878,1.669006028]
[9,"Cluster9",5941.942346,3858.021869,309223,{"v":3.91e-100,"d":"3.91E-100"},1.33E-98,1.540130114,1.478619189,1.604422533]
[3,"Cluster12",3956.431412,2604.914513,309223,{"v":2.32e-63,"d":"2.32E-63"},{"v":7.9e-62,"d":"7.90E-62"},1.518584602,1.445036562,1.59617899]
[6,"Cluster15",2513.039761,1506.510934,309223,2.62E-57,{"v":8.91e-56,"d":"8.91E-56"},1.66745956,1.564293523,1.777998061]
[17,"Cluster5",2556.683897,1662.836978,309223,{"v":1.42e-43,"d":"1.42E-43"},4.83E-42,1.537528122,1.445387269,1.635980814]
[8,"Cluster8",2622.250497,1741.880716,309223,{"v":5.28e-41,"d":"5.28E-41"},1.79E-39,1.505093866,1.416529738,1.599632037]
[16,"Cluster4",2223.031809,1474.709742,309223,{"v":3.26e-35,"d":"3.26E-35"},1.11E-33,1.507039161,1.410978241,1.610156229]
[15,"Cluster7",2146.180915,1423.025845,309223,{"v":4e-34,"d":"4.00E-34"},1.36E-32,1.50800052,1.410220022,1.613156691]
[11,"Cluster3",1865.580517,1257.620278,309223,{"v":6.55e-28,"d":"6.55E-28"},2.23E-26,1.483264909,1.380875899,1.593661895]
[14,"Cluster6",1377.5666,872.6500994,309223,{"v":9.46e-27,"d":"9.46E-27"},{"v":3.22e-25,"d":"3.22E-25"},1.578356657,1.450187078,1.718697347]
[5,"Cluster14",1137.38171,748.3439364,309223,1.79E-19,{"v":6.07e-18,"d":"6.07E-18"},1.519944566,1.386169648,1.667657537]
[2,"Cluster11",1174.809145,796.6560636,309223,{"v":8.86e-18,"d":"8.86E-18"},{"v":3.01e-16,"d":"3.01E-16"},1.474178992,1.347505451,1.613532089]
[7,"Cluster16",1094.596421,749.4870775,309223,{"v":5.07e-16,"d":"5.07E-16"},{"v":1.72e-14,"d":"1.72E-14"},1.4618454,1.332235505,1.604860419]
[12,"Cluster0",1236.662028,901.7713718,309223,2.37E-13,{"v":8.04e-12,"d":"8.04E-12"},1.371327866,1.258589072,1.494755136]
[13,"Cluster1",968.4333996,679.8031809,309223,{"v":6.5e-13,"d":"6.50E-13"},2.21E-11,1.423406736,1.290605525,1.570772288]

{"sheet":"ACC-prenatal_adulthood","index":5,"n_rows":19,"n_cols":10,"rows_kept":19}
["Supplementary Table 5B: Enrichment of cluster genes with brain critical exons across different developmental stages"]
[null,"pathwayname","prenatal_CE","adulthood_CE","Universe","p_val","p_val_adj","Odds_ratio","Lower_CI","Upper_CI"]
[10,"Cluster2",5917.023857,3383.652087,309223,1.47E-154,{"v":4.99e-153,"d":"4.99E-153"},1.748488069,1.675806029,1.824580462]
[4,"Cluster13",6812.870775,4191.982107,309223,{"v":2.04e-140,"d":"2.04E-140"},{"v":6.92e-139,"d":"6.92E-139"},1.625212879,1.563445244,1.689587077]
[1,"Cluster10",5904.644135,3688.107356,309223,{"v":2.38e-115,"d":"2.38E-115"},{"v":8.11e-114,"d":"8.11E-114"},1.601107888,1.536240878,1.669006028]
[9,"Cluster9",5941.942346,3858.021869,309223,{"v":3.91e-100,"d":"3.91E-100"},1.33E-98,1.540130114,1.478619189,1.604422533]
[3,"Cluster12",3956.431412,2604.914513,309223,{"v":2.32e-63,"d":"2.32E-63"},{"v":7.9e-62,"d":"7.90E-62"},1.518584602,1.445036562,1.59617899]
[6,"Cluster15",2513.039761,1506.510934,309223,2.62E-57,{"v":8.91e-56,"d":"8.91E-56"},1.66745956,1.564293523,1.777998061]
[17,"Cluster5",2556.683897,1662.836978,309223,{"v":1.42e-43,"d":"1.42E-43"},4.83E-42,1.537528122,1.445387269,1.635980814]
[8,"Cluster8",2622.250497,1741.880716,309223,{"v":5.28e-41,"d":"5.28E-41"},1.79E-39,1.505093866,1.416529738,1.599632037]
[16,"Cluster4",2223.031809,1474.709742,309223,{"v":3.26e-35,"d":"3.26E-35"},1.11E-33,1.507039161,1.410978241,1.610156229]
[15,"Cluster7",2146.180915,1423.025845,309223,{"v":4e-34,"d":"4.00E-34"},1.36E-32,1.50800052,1.410220022,1.613156691]
[11,"Cluster3",1865.580517,1257.620278,309223,{"v":6.55e-28,"d":"6.55E-28"},2.23E-26,1.483264909,1.380875899,1.593661895]
[14,"Cluster6",1377.5666,872.6500994,309223,{"v":9.46e-27,"d":"9.46E-27"},{"v":3.22e-25,"d":"3.22E-25"},1.578356657,1.450187078,1.718697347]
[5,"Cluster14",1137.38171,748.3439364,309223,1.79E-19,{"v":6.07e-18,"d":"6.07E-18"},1.519944566,1.386169648,1.667657537]
[2,"Cluster11",1174.809145,796.6560636,309223,{"v":8.86e-18,"d":"8.86E-18"},{"v":3.01e-16,"d":"3.01E-16"},1.474178992,1.347505451,1.613532089]
[7,"Cluster16",1094.596421,749.4870775,309223,{"v":5.07e-16,"d":"5.07E-16"},{"v":1.72e-14,"d":"1.72E-14"},1.4618454,1.332235505,1.604860419]
[12,"Cluster0",1236.662028,901.7713718,309223,2.37E-13,{"v":8.04e-12,"d":"8.04E-12"},1.371327866,1.258589072,1.494755136]
[13,"Cluster1",968.4333996,679.8031809,309223,{"v":6.5e-13,"d":"6.50E-13"},2.21E-11,1.423406736,1.290605525,1.570772288]

{"sheet":"MTG-early_childhood_adulthood","index":6,"n_rows":20,"n_cols":10,"rows_kept":20}
["Supplementary Table 5C: Enrichment of cluster genes with brain critical exons across different developmental stages"]
[null,"pathwayname","early_childhood_CE","adulthood_CE","Universe","p_val","p_val_adj","Odds_ratio","Lower_CI","Upper_CI"]
[1,"Cluster10",4161.63817097416,3480.79522862823,309223,{"v":2.53518685814391e-15,"d":"2.54E-15"},{"v":9.12667268931807e-14,"d":"9.13E-14"},1.19563565911418,1.14272309936244,1.2510161506582]
[2,"Cluster11",4596.44135188867,3720.34592445328,309223,{"v":2.20981285630254e-22,"d":"2.21E-22"},{"v":7.95532628268915E-21,"d":"7.96E-21"},1.23547473243956,1.18287920028334,1.29049353802785]
[3,"Cluster12",1451.46918489066,1187.08151093439,309223,{"v":1.38428366058359e-07,"d":"1.38E-07"},{"v":4.98342117810093e-06,"d":"4.98E-06"},1.22238341130554,1.13202793815176,1.32020584440634]
[4,"Cluster13",1219.70377733598,989.823061630219,309223,{"v":5.35988421330885e-07,"d":"5.36E-07"},{"v":1.92955831679118e-05,"d":"1.93E-05"},1.23228287088501,1.13310279980787,1.34043396385347]
[5,"Cluster14",2296.43538767396,1877.76143141153,309223,{"v":4.38782900582174e-11,"d":"4.39E-11"},{"v":1.57961844209583e-09,"d":"1.58E-09"},1.22257116062416,1.15003570691416,1.29979105708636]
[6,"Cluster15",1974.76143141153,1621.58648111332,309223,{"v":1.93434925496406E-9,"d":"1.93E-09"},{"v":6.96365731787061e-08,"d":"6.96E-08"},1.21759437590661,1.14005098875435,1.30062184271196]
[7,"Cluster16",3276.74552683897,2701.58250497018,309223,{"v":4.26127161690072e-14,"d":"4.26E-14"},{"v":1.53405778208426e-12,"d":"1.53E-12"},1.21281161223225,1.15233973237675,1.27652945178451]
[8,"Cluster17",2949.2703777336,2421.31013916501,309223,{"v":2.56026859437146e-13,"d":"2.56E-13"},{"v":9.21696693973727e-12,"d":"9.22E-12"},1.21810201751156,1.15411663393092,1.28570039897659]
[9,"Cluster8",1861.81510934394,1521.94035785288,309223,{"v":2.58524394518812e-09,"d":"2.59E-09"},{"v":9.30687820267725e-08,"d":"9.31E-08"},1.22338961619568,1.14312869164649,1.30944284559784]
[10,"Cluster9",2331.8449304175,1896.28628230616,309223,{"v":1.00012804129111E-11,"d":"1.00E-11"},{"v":3.60046094864801e-10,"d":"3.60E-10"},1.22993347623548,1.15743078200637,1.30714590478002]
[11,"Cluster2",693.087475149105,560.127236580517,309223,{"v":9.52124982944701e-05,"d":"9.52E-05"},0.00342764993860092,1.23742864112055,1.10707785344666,1.38368205333539]
[12,"Cluster3",1103.78330019881,889.950298210736,309223,{"v":9.0182125189277e-07,"d":"9.02E-07"},{"v":3.24655650681397e-05,"d":"3.25E-05"},1.24039572221323,1.13556773149147,1.35533882539288]
[13,"Cluster0",1216.31013916501,994.363817097416,309223,{"v":1.25308696947613e-06,"d":"1.25E-06"},{"v":4.51111309011405e-05,"d":"4.51E-05"},1.22331396901721,1.12487560536502,1.33058864082384]
[14,"Cluster1",637.437375745527,504.363817097416,309223,{"v":4.57280884532827e-05,"d":"4.57E-05"},0.00164621118431818,1.26379658887576,1.12454203834652,1.42103910188267]
[15,"Cluster6",1951.19284294235,1599.49502982107,309223,{"v":1.79148178633804E-9,"d":"1.79E-09"},{"v":6.44933443081694e-08,"d":"6.45E-08"},1.22011473025597,1.14193847834094,1.30383410095171]
[16,"Cluster7",1011.53280318091,818.972166998012,309223,{"v":3.66303063538737E-6,"d":"3.66E-06"},0.000131869102873945,1.23560335690562,1.12686685495968,1.35528842613876]
[17,"Cluster4",1579.88270377734,1284.42743538767,309223,{"v":1.74744930479767E-8,"d":"1.75E-08"},{"v":6.2908174972716e-07,"d":"6.29E-07"},1.23049820296605,1.14304114879347,1.32490568091545]
[18,"Cluster5",2048.40755467197,1654.76938369781,309223,{"v":4.84958978263316e-11,"d":"4.85E-11"},{"v":1.74585232174794e-09,"d":"1.75E-09"},1.23746481198701,1.15966270271346,1.32066393098362]

{"sheet":"MTG-prenatal_adulthood","index":7,"n_rows":20,"n_cols":10,"rows_kept":20}
["Supplementary Table 5D: Enrichment of cluster genes with brain critical exons across different developmental stages"]
[null,"pathwayname","prenatal_CE","adulthood_CE","Universe","p_val","p_val_adj","Odds_ratio","Lower_CI","Upper_CI"]
[2,"Cluster11",5627.532803,3720.345924,309223,3.99E-88,1.43E-86,1.512891788,1.451147019,1.577408372]
[1,"Cluster10",5266.4334,3480.795229,309223,1.31E-82,{"v":4.71e-81,"d":"4.71E-81"},1.512767564,1.449008763,1.579452137]
[8,"Cluster17",3710.461233,2421.310139,309223,{"v":1.07e-61,"d":"1.07E-61"},3.86E-60,1.532387356,1.45567121,1.613449576]
[7,"Cluster16",3971.007952,2701.582505,309223,{"v":2.99e-55,"d":"2.99E-55"},{"v":1.08e-53,"d":"1.08E-53"},1.469622087,1.399262598,1.543752298]
[5,"Cluster14",2853.188867,1877.761431,309223,{"v":3.37e-46,"d":"3.37E-46"},{"v":1.21e-44,"d":"1.21E-44"},1.5191226,1.433014787,1.610702354]
[10,"Cluster9",2832.630219,1896.286282,309223,{"v":9.57e-43,"d":"9.57E-43"},{"v":3.44e-41,"d":"3.44E-41"},1.494154526,1.409565253,1.584147032]
[18,"Cluster5",2501.614314,1654.769384,309223,7.04E-40,{"v":2.54e-38,"d":"2.54E-38"},1.511730314,1.420598204,1.609175079]
[15,"Cluster6",2406.737575,1599.49503,309223,1.07E-37,{"v":3.85e-36,"d":"3.85E-36"},1.505238337,1.412907637,1.604059301]
[9,"Cluster8",2300.725646,1521.940358,309223,{"v":8.3e-37,"d":"8.30E-37"},{"v":2.99e-35,"d":"2.99E-35"},1.511769871,1.416904393,1.613471298]
[6,"Cluster15",2364.371769,1621.586481,309223,2.27E-32,{"v":8.17e-31,"d":"8.17E-31"},1.457418092,1.368048773,1.552972221]
[3,"Cluster12",1827.888668,1187.081511,309223,{"v":8e-32,"d":"8.00E-32"},2.88E-30,1.539940429,1.431445089,1.657221847]
[17,"Cluster4",1913.172962,1284.427435,309223,{"v":4.48e-29,"d":"4.48E-29"},1.61E-27,1.489812502,1.388092473,1.599554412]
[12,"Cluster3",1363.940358,889.9502982,309223,{"v":9.22e-24,"d":"9.22E-24"},{"v":3.32e-22,"d":"3.32E-22"},1.53245725,1.408509076,1.668216937]
[4,"Cluster13",1443.994036,989.8230616,309223,1.73E-20,{"v":6.21e-19,"d":"6.21E-19"},1.458508953,1.345236971,1.581948698]
[16,"Cluster7",1214.864811,818.972167,309223,{"v":8.87e-19,"d":"8.87E-19"},{"v":3.19e-17,"d":"3.19E-17"},1.4834059,1.357743146,1.621526362]
[13,"Cluster0",1415.868787,994.3638171,309223,{"v":4.66e-18,"d":"4.66E-18"},{"v":1.68e-16,"d":"1.68E-16"},1.424498394,1.313543839,1.545396563]
[14,"Cluster1",734.9821074,504.3638171,309223,{"v":3.31e-11,"d":"3.31E-11"},{"v":1.19E-9,"d":"1.19E-09"},1.458173687,1.302227791,1.634049292]
[11,"Cluster2",794.582505,560.1272366,309223,1.08E-10,{"v":3.88e-09,"d":"3.88E-09"},1.419506539,1.274271081,1.582377441]

{"sheet":"VISP-early_childhood_adulthood","index":8,"n_rows":19,"n_cols":10,"rows_kept":19}
["Supplementary Table 5E: Enrichment of cluster genes with brain critical exons across different developmental stages"]
[null,"pathwayname","early_childhood_CE","adulthood_CE","Universe","p_val","p_val_adj","Odds_ratio","Lower_CI","Upper_CI"]
[1,"Cluster10",1587.6282306163,1273.74950298211,309223,{"v":2.27741400596645E-9,"d":"2.28E-09"},{"v":7.74320762028592e-08,"d":"7.74E-08"},1.2464353843622,1.15778243215322,1.34212991702911]
[2,"Cluster11",4583.61630218688,3730.41749502982,309223,{"v":2.4886701743297e-21,"d":"2.49E-21"},{"v":8.46147859272098e-20,"d":"8.46E-20"},1.22892711137782,1.1766307351881,1.28363296202129]
[3,"Cluster12",868.838966202783,697.029821073559,309223,{"v":7.73134751280222e-06,"d":"7.73E-06"},0.000262865815435275,1.24670288946358,1.12850678907782,1.37785389357043]
[4,"Cluster13",1364.92445328032,1100.09542743539,309223,{"v":5.0612920622497e-08,"d":"5.06E-08"},{"v":1.7208393011649E-6,"d":"1.72E-06"},1.24085271095128,1.14607690333366,1.34378038370596]
[5,"Cluster14",1647.18687872763,1344.02385685885,309223,{"v":1.52775959713876e-08,"d":"1.53E-08"},{"v":5.19438263027178e-07,"d":"5.19E-07"},1.22541822840097,1.14009672570405,1.3173420395511]
[6,"Cluster15",3704.84890656064,3009.28230616302,309223,{"v":7.7778116761864e-18,"d":"7.78E-18"},{"v":2.64445596990338e-16,"d":"2.64E-16"},1.23126537785359,1.17320698912931,1.29238881073924]
[7,"Cluster16",5270.31610337972,4295.63419483101,309223,{"v":5.44819374413945e-24,"d":"5.45E-24"},{"v":1.85238587300741E-22,"d":"1.85E-22"},1.22670709177112,1.17796290581743,1.27757390174291]
[8,"Cluster8",4800.82306163022,3919.97017892644,309223,{"v":1.1674216365336e-21,"d":"1.17E-21"},{"v":3.96923356421423e-20,"d":"3.97E-20"},1.22473434877613,1.17379012360804,1.27792606978992]
[9,"Cluster9",1630.87475149105,1309.44135188867,309223,{"v":1.57616563498643e-09,"d":"1.58E-09"},{"v":5.35896315895385e-08,"d":"5.36E-08"},1.24595780162715,1.15845148327097,1.34035606046361]
[10,"Cluster2",962.646123260437,801.82703777336,309223,{"v":6.9442576059382e-05,"d":"6.94E-05"},0.00236104758601899,1.2006770432415,1.09330123585168,1.31902918071198]
[11,"Cluster3",1191.63220675944,973.918489065606,309223,{"v":1.5420961160976e-06,"d":"1.54E-06"},{"v":5.24312679473185e-05,"d":"5.24E-05"},1.2237973391432,1.12438776057175,1.33228504786247]
[12,"Cluster0",1124.69781312127,920.852882703777,309223,{"v":3.52124349172216e-06,"d":"3.52E-06"},1.19722278718554E-4,1.22145874018408,1.11954398530012,1.33300418805976]
[13,"Cluster1",1178.35586481113,930.996023856859,309223,{"v":3.86643446507854e-08,"d":"3.87E-08"},{"v":1.3145877181267E-6,"d":"1.31E-06"},1.26525835903652,1.16103221209441,1.37925425894287]
[14,"Cluster6",1938.31610337972,1484.24055666004,309223,{"v":4.04848008108312e-15,"d":"4.05E-15"},{"v":1.37648322756826e-13,"d":"1.38E-13"},1.30589311411505,1.22039453270098,1.39763698837402]
[15,"Cluster7",2111.13717693837,1708.42942345924,309223,{"v":3.5150703776448e-11,"d":"3.52E-11"},{"v":1.19512392839923E-9,"d":"1.20E-09"},1.23589954336961,1.1593925615188,1.31774300342328]
[16,"Cluster4",1391.75745526839,1146.66600397614,309223,{"v":6.02802983035882E-7,"d":"6.03E-07"},{"v":2.049530142322e-05,"d":"2.05E-05"},1.21357004707511,1.12223620576127,1.31259381912637]
[17,"Cluster5",1301.61829025845,1025.83300198807,309223,{"v":5.76520851806238e-09,"d":"5.77E-09"},{"v":1.96017089614121E-7,"d":"1.96E-07"},1.26896186762352,1.16922263638717,1.37758392107425]

{"sheet":"VISP-prenatal_adulthood","index":9,"n_rows":19,"n_cols":10,"rows_kept":19}
["Supplementary Table 5F: Enrichment of cluster genes with brain critical exons across different developmental stages"]
[null,"pathwayname","prenatal_CE","adulthood_CE","Universe","p_val","p_val_adj","Odds_ratio","Lower_CI","Upper_CI"]
[7,"Cluster16",6857.833002,4295.634195,309223,{"v":1.43e-132,"d":"1.43E-132"},{"v":4.85e-131,"d":"4.85E-131"},1.596343146,1.536202774,1.659078964]
[2,"Cluster11",5827.502982,3730.417495,309223,{"v":7.59e-104,"d":"7.59E-104"},{"v":2.58e-102,"d":"2.58E-102"},1.562417731,1.49915185,1.628623202]
[8,"Cluster8",5984.528827,3919.970179,309223,2.52E-97,{"v":8.57e-96,"d":"8.57E-96"},1.526762886,1.466131402,1.590081376]
[6,"Cluster15",4610.28827,3009.282306,309223,{"v":2.93e-76,"d":"2.93E-76"},{"v":9.96e-75,"d":"9.96E-75"},1.532040069,1.462980268,1.604606862]
[14,"Cluster6",2398.105368,1484.240557,309223,3.37E-49,{"v":1.15e-47,"d":"1.15E-47"},1.615833706,1.514491612,1.724589085]
[15,"Cluster7",2579.928429,1708.429423,309223,{"v":6.83e-41,"d":"6.83E-41"},{"v":2.32e-39,"d":"2.32E-39"},1.510488195,1.420785394,1.606259455]
[1,"Cluster10",1957.176938,1273.749503,309223,1.13E-33,3.84E-32,1.536036036,1.431373139,1.648917684]
[17,"Cluster5",1610.580517,1025.833002,309223,{"v":2.26e-30,"d":"2.26E-30"},{"v":7.68e-29,"d":"7.68E-29"},1.570103272,1.451931097,1.698643448]
[9,"Cluster9",1936.508946,1309.441352,309223,{"v":1.57e-28,"d":"1.57E-28"},{"v":5.33e-27,"d":"5.33E-27"},1.479676959,1.379440796,1.587732488]
[11,"Cluster3",1498.819085,973.9184891,309223,{"v":2.36e-26,"d":"2.36E-26"},{"v":8.04e-25,"d":"8.04E-25"},1.538920415,1.419745606,1.66885694]
[5,"Cluster14",1914.900596,1344.023857,309223,{"v":6.96e-24,"d":"6.96E-24"},2.37E-22,1.424827327,1.328744071,1.528209983]
[16,"Cluster4",1667.737575,1146.666004,309223,{"v":4.37e-23,"d":"4.37E-23"},1.48E-21,1.454177576,1.348834909,1.5682826]
[13,"Cluster1",1400.751491,930.9960239,309223,1.17E-22,{"v":3.98e-21,"d":"3.98E-21"},1.504747262,1.385150075,1.635434254]
[4,"Cluster13",1566.196819,1100.095427,309223,{"v":8.84e-20,"d":"8.84E-20"},{"v":3.01e-18,"d":"3.01E-18"},1.423598237,1.317939877,1.538247501]
[3,"Cluster12",1071.131213,697.0298211,309223,{"v":3.18e-19,"d":"3.18E-19"},1.08E-17,1.536468362,1.396884004,1.691099087]
[12,"Cluster0",1273.656064,920.8528827,309223,{"v":2.67e-14,"d":"2.67E-14"},{"v":9.09e-13,"d":"9.09E-13"},1.383209647,1.270801103,1.506147061]
[10,"Cluster2",1118.777336,801.8270378,309223,{"v":2.59e-13,"d":"2.59E-13"},{"v":8.8e-12,"d":"8.80E-12"},1.395179424,1.274303745,1.528200375]

{"sheet":"ACC-Pli","index":10,"n_rows":19,"n_cols":7,"rows_kept":19}
["Supplementary Table 6A: Enrichment of cluster genes with high pLi genes"]
["pathwayname","Overlap","Cluster_genes","Num_pli_genes","Pvalue","Oddsratio","FDR"]
["Cluster10",746,2506,3226,{"v":8.55e-106,"d":"8.55E-106"},3.080045585,{"v":1.45e-104,"d":"1.45E-104"}]
["Cluster13",766,2671,3226,{"v":8.23e-100,"d":"8.23E-100"},2.921955914,{"v":7e-99,"d":"7.00E-99"}]
["Cluster2",684,2325,3226,2.59E-93,2.974470536,1.47E-92]
["Cluster9",731,2579,3226,{"v":6.13e-92,"d":"6.13E-92"},2.843157688,{"v":2.61e-91,"d":"2.61E-91"}]
["Cluster12",465,1533,3226,{"v":8.48e-66,"d":"8.48E-66"},2.950864839,{"v":2.88e-65,"d":"2.88E-65"}]
["Cluster5",319,1048,3226,{"v":7.34e-45,"d":"7.34E-45"},2.867769275,{"v":2.08e-44,"d":"2.08E-44"}]
["Cluster7",288,907,3226,{"v":2.28e-44,"d":"2.28E-44"},3.034408426,{"v":5.55e-44,"d":"5.55E-44"}]
["Cluster8",331,1145,3226,{"v":2.58e-41,"d":"2.58E-41"},2.664073988,{"v":5.48e-41,"d":"5.48E-41"}]
["Cluster4",300,1014,3226,{"v":1.67e-39,"d":"1.67E-39"},2.737897175,{"v":3.16e-39,"d":"3.16E-39"}]
["Cluster3",254,830,3226,{"v":4.18e-36,"d":"4.18E-36"},2.849443798,{"v":7.1e-36,"d":"7.10E-36"}]
["Cluster0",177,558,3226,{"v":2.2e-27,"d":"2.20E-27"},2.955781533,{"v":3.4e-27,"d":"3.40E-27"}]
["Cluster11",166,523,3226,{"v":8.9e-26,"d":"8.90E-26"},2.951457369,{"v":1.26e-25,"d":"1.26E-25"}]
["Cluster6",194,662,3226,3.88E-25,2.640520618,{"v":5.07e-25,"d":"5.07E-25"}]
["Cluster16",141,431,3226,{"v":1.84e-23,"d":"1.84E-23"},3.071692129,{"v":2.23e-23,"d":"2.23E-23"}]
["Cluster14",169,604,3226,{"v":9.45e-20,"d":"9.45E-20"},2.458535282,1.07E-19]
["Cluster15",229,1003,3226,1.06E-14,1.876254485,{"v":1.12e-14,"d":"1.12E-14"}]
["Cluster1",130,475,3226,{"v":1.12e-14,"d":"1.12E-14"},2.365455744,{"v":1.12e-14,"d":"1.12E-14"}]

{"sheet":"MTG-Pli","index":11,"n_rows":20,"n_cols":7,"rows_kept":20}
["Supplementary Table 6B: Enrichment of cluster genes with high pLi genes"]
["pathwayname","Overlap","Cluster_genes","Num_pli_genes","Pvalue","Oddsratio","FDR"]
["Cluster11",715,2510,3226,{"v":9.05e-91,"d":"9.05E-91"},2.853197126,{"v":1.63e-89,"d":"1.63E-89"}]
["Cluster10",684,2370,3226,{"v":3.84e-89,"d":"3.84E-89"},2.887900594,{"v":3.45e-88,"d":"3.45E-88"}]
["Cluster17",400,1235,3226,{"v":8.59e-65,"d":"8.59E-65"},3.211490273,{"v":5.15e-64,"d":"5.15E-64"}]
["Cluster16",476,1692,3226,{"v":2.33e-56,"d":"2.33E-56"},2.642596416,{"v":1.05e-55,"d":"1.05E-55"}]
["Cluster9",375,1292,3226,{"v":2.08e-47,"d":"2.08E-47"},2.705749216,{"v":6.45e-47,"d":"6.45E-47"}]
["Cluster6",340,1122,3226,{"v":2.15e-47,"d":"2.15E-47"},2.862153444,{"v":6.45e-47,"d":"6.45E-47"}]
["Cluster14",368,1261,3226,{"v":4.19e-47,"d":"4.19E-47"},2.723383028,{"v":1.08e-46,"d":"1.08E-46"}]
["Cluster8",323,1049,3226,1.29E-46,2.920203028,{"v":2.91e-46,"d":"2.91E-46"}]
["Cluster15",328,1091,3226,{"v":7.15e-45,"d":"7.15E-45"},2.820993089,{"v":1.43e-44,"d":"1.43E-44"}]
["Cluster4",276,898,3226,1.32E-39,2.881730446,2.38E-39]
["Cluster5",313,1083,3226,{"v":5.16e-39,"d":"5.16E-39"},2.652884541,8.44E-39]
["Cluster12",262,926,3226,{"v":5.2e-31,"d":"5.20E-31"},2.54476404,{"v":7.8e-31,"d":"7.80E-31"}]
["Cluster7",189,602,3226,{"v":1.5E-28,"d":"1.50E-28"},2.918315317,2.07E-28]
["Cluster3",191,641,3226,1.01E-25,2.703330968,1.29E-25]
["Cluster13",191,658,3226,{"v":3.2e-24,"d":"3.20E-24"},2.602482697,{"v":3.84e-24,"d":"3.84E-24"}]
["Cluster0",178,620,3226,{"v":4.59e-22,"d":"4.59E-22"},2.554981281,5.17E-22]
["Cluster1",115,349,3226,{"v":1.2e-19,"d":"1.20E-19"},3.087725644,1.27E-19]
["Cluster2",114,367,3226,2.66E-17,2.827362146,2.66E-17]

{"sheet":"VISP-Pli","index":12,"n_rows":19,"n_cols":7,"rows_kept":19}
["Supplementary Table 6C: Enrichment of cluster genes with high pLi genes"]
["pathwayname","Overlap","Cluster_genes","Num_pli_genes","Pvalue","Oddsratio","FDR"]
["Cluster16",785,2539,3226,{"v":4.04e-122,"d":"4.04E-122"},3.305263174,{"v":6.87e-121,"d":"6.87E-121"}]
["Cluster11",684,2311,3226,1.21E-94,3.002380454,{"v":1.03e-93,"d":"1.03E-93"}]
["Cluster8",713,2535,3226,{"v":1.14e-87,"d":"1.14E-87"},2.796619072,{"v":6.44e-87,"d":"6.44E-87"}]
["Cluster15",510,1686,3226,{"v":3.75e-72,"d":"3.75E-72"},2.970675251,{"v":1.59e-71,"d":"1.59E-71"}]
["Cluster9",262,797,3226,{"v":2.29e-43,"d":"2.29E-43"},3.179739551,{"v":7.77e-43,"d":"7.77E-43"}]
["Cluster14",255,795,3226,{"v":4.08e-40,"d":"4.08E-40"},3.05811068,1.16E-39]
["Cluster7",339,1204,3226,{"v":1.1E-39,"d":"1.10E-39"},2.567626828,{"v":2.67e-39,"d":"2.67E-39"}]
["Cluster10",274,906,3226,6.32E-38,2.812209299,{"v":1.34e-37,"d":"1.34E-37"}]
["Cluster13",211,649,3226,{"v":3.37e-34,"d":"3.37E-34"},3.090472389,6.36E-34]
["Cluster4",223,725,3226,4.19E-32,2.851757426,7.12E-32]
["Cluster3",211,718,3226,{"v":1.91e-27,"d":"1.91E-27"},2.660493029,{"v":2.95e-27,"d":"2.95E-27"}]
["Cluster0",172,545,3226,{"v":2.35e-26,"d":"2.35E-26"},2.930293748,{"v":3.33e-26,"d":"3.33E-26"}]
["Cluster12",165,530,3226,{"v":1.32e-24,"d":"1.32E-24"},2.867263969,1.62E-24]
["Cluster6",228,837,3226,{"v":1.34e-24,"d":"1.34E-24"},2.393944491,1.62E-24]
["Cluster2",140,486,3226,{"v":9.66e-18,"d":"9.66E-18"},2.548079679,{"v":1.09e-17,"d":"1.09E-17"}]
["Cluster1",156,582,3226,{"v":1.8e-16,"d":"1.80E-16"},2.308639004,{"v":1.92e-16,"d":"1.92E-16"}]
["Cluster5",153,620,3226,{"v":6.07e-13,"d":"6.07E-13"},2.059106318,{"v":6.07e-13,"d":"6.07E-13"}]