id,variation,vep_hgvs_c,vep_hgvs_p,vep_exon,vep_intron,final_pathogenicity,final_disease,vep_consequence,vep_cadd_phred,overall_max_maf,overall_max_maf_source,gene
682618,5:145718595:A>C,NM_002700.2:c.-81A>C,\N,1/2,\N,Unknown significance,\N,5_prime_UTR_variant,0.023,0.001,1KG_SAS_AF,POU4F3
682619,5:145718597:C>T,NM_002700.2:c.-79C>T,\N,1/2,\N,Unknown significance,\N,5_prime_UTR_variant,0.484,0.0008,1KG_AFR_AF,POU4F3
682620,5:145718598:G>C,NM_002700.2:c.-78G>C,\N,1/2,\N,Unknown significance,\N,5_prime_UTR_variant,0.018,0.0008,1KG_AFR_AF,POU4F3
682621,5:145718607:G>T,NM_002700.2:c.-69G>T,\N,1/2,\N,Unknown significance,\N,5_prime_UTR_variant,0.034,\N,\N,POU4F3
682622,5:145718619:C>A,NM_002700.2:c.-57C>A,\N,1/2,\N,Unknown significance,\N,5_prime_UTR_variant,1.037,0.0000517652,EXAC_NFE_AF,POU4F3
682623,5:145718621:A>G,NM_002700.2:c.-55A>G,\N,1/2,\N,Unknown significance,\N,5_prime_UTR_variant,0.056,0.000131579,EXAC_EAS_AF,POU4F3
682624,5:145718625:A>T,NM_002700.2:c.-51A>T,\N,1/2,\N,Unknown significance,\N,5_prime_UTR_variant,0.038,0.0000342196,EXAC_NFE_AF,POU4F3
682625,5:145718628:CA>C,NM_002700.2:c.-46del,\N,1/2,\N,Unknown significance,\N,5_prime_UTR_variant,5.586,\N,\N,POU4F3
682626,5:145718631:G>A,NM_002700.2:c.-45G>A,\N,1/2,\N,Unknown significance,\N,5_prime_UTR_variant,0.95,0.0000170445,EXAC_NFE_AF,POU4F3
682627,5:145718632:C>A,NM_002700.2:c.-44C>A,\N,1/2,\N,Unknown significance,\N,5_prime_UTR_variant,5.771,\N,\N,POU4F3
682628,5:145718633:C>T,NM_002700.2:c.-43C>T,\N,1/2,\N,Unknown significance,\N,5_prime_UTR_variant,5.62,0.0000666045,EXAC_SAS_AF,POU4F3
682629,5:145718634:T>C,NM_002700.2:c.-42T>C,\N,1/2,\N,Unknown significance,\N,5_prime_UTR_variant,2.645,0.000101482,EXAC_AMR_AF,POU4F3
682630,5:145718635:G>C,NM_002700.2:c.-41G>C,\N,1/2,\N,Unknown significance,\N,5_prime_UTR_variant,2.771,\N,\N,POU4F3
682631,5:145718641:A>C,NM_002700.2:c.-35A>C,\N,1/2,\N,Unknown significance,\N,5_prime_UTR_variant,9.696,0.0014,1KG_AMR_AF,POU4F3
682632,5:145718642:TG>T,NM_002700.2:c.-33del,\N,1/2,\N,Unknown significance,\N,5_prime_UTR_variant,11.99,0.00010008,EXAC_AMR_AF,POU4F3
682633,5:145718644:T>C,NM_002700.2:c.-32T>C,\N,1/2,\N,Unknown significance,\N,5_prime_UTR_variant,9.952,\N,\N,POU4F3
682634,5:145718646:A>C,NM_002700.2:c.-30A>C,\N,1/2,\N,Unknown significance,\N,5_prime_UTR_variant,8.748,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,POU4F3
682635,5:145718650:G>A,NM_002700.2:c.-26G>A,\N,1/2,\N,Unknown significance,\N,5_prime_UTR_variant,12.36,0.000116279,EVS_EA_AF,POU4F3
682636,5:145718656:A>C,NM_002700.2:c.-20A>C,\N,1/2,\N,Unknown significance,\N,5_prime_UTR_variant,11.22,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,POU4F3
682637,5:145718657:C>G,NM_002700.2:c.-19C>G,\N,1/2,\N,Unknown significance,\N,5_prime_UTR_variant,12.12,0.001,1KG_SAS_AF,POU4F3
682638,5:145718662:C>G,NM_002700.2:c.-14C>G,\N,1/2,\N,Unknown significance,\N,5_prime_UTR_variant,11.69,0.0000635809,EXAC_SAS_AF,POU4F3
682639,5:145718662:C>T,NM_002700.2:c.-14C>T,\N,1/2,\N,Unknown significance,\N,5_prime_UTR_variant,13,0.000104428,EXAC_AFR_AF,POU4F3
682640,5:145718669:C>A,NM_002700.2:c.-7C>A,\N,1/2,\N,Unknown significance,\N,5_prime_UTR_variant,23.4,0.0000912742,EXAC_AMR_AF,POU4F3
682641,5:145718670:G>C,NM_002700.2:c.-6G>C,\N,1/2,\N,Unknown significance,\N,5_prime_UTR_variant,23.7,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,POU4F3
682642,5:145718673:A>C,NM_002700.2:c.-3A>C,\N,1/2,\N,Unknown significance,\N,5_prime_UTR_variant,23,0.0000154231,EXAC_NFE_AF,POU4F3
682643,5:145718678:G>A,NM_002700.2:c.3G>A,NP_002691.1:p.Met1?,1/2,\N,Unknown significance,\N,start_lost,25.6,0.000015328,EXAC_NFE_AF,POU4F3
682644,5:145718681:G>A,NM_002700.2:c.6G>A,NP_002691.1:p.Met2Ile,1/2,\N,Unknown significance,\N,missense_variant,24.3,0.000015276,EXAC_NFE_AF,POU4F3
682645,5:145718682:G>A,NM_002700.2:c.7G>A,NP_002691.1:p.Ala3Thr,1/2,\N,Unknown significance,\N,missense_variant,22.8,0.0000614931,EXAC_SAS_AF,POU4F3
682646,5:145718685:A>G,NM_002700.2:c.10A>G,NP_002691.1:p.Met4Val,1/2,\N,Unknown significance,\N,missense_variant,21.9,0.0000152161,EXAC_NFE_AF,POU4F3
682647,5:145718686:T>C,NM_002700.2:c.11T>C,NP_002691.1:p.Met4Thr,1/2,\N,Unknown significance,\N,missense_variant,18.89,0.000233372,EXAC_EAS_AF,POU4F3
682648,5:145718690:C>T,NM_002700.2:c.15C>T,NP_002691.1:p.Asn5=,1/2,\N,Unknown significance,\N,synonymous_variant,23.9,0.000116442,EXAC_EAS_AF,POU4F3
682649,5:145718696:G>A,NM_002700.2:c.21G>A,NP_002691.1:p.Lys7=,1/2,\N,Unknown significance,\N,synonymous_variant,23.9,0.00226757,EXAC_OTH_AF,POU4F3
682650,5:145718699:G>A,NM_002700.2:c.24G>A,NP_002691.1:p.Gln8=,1/2,\N,Unknown significance,\N,synonymous_variant,23.8,0.000243427,EXAC_SAS_AF,POU4F3
682651,5:145718700:C>G,NM_002700.2:c.25C>G,NP_002691.1:p.Pro9Ala,1/2,\N,Likely benign,\N,missense_variant,23.8,0.0000608125,EXAC_SAS_AF,POU4F3
682652,5:145718701:C>T,NM_002700.2:c.26C>T,NP_002691.1:p.Pro9Leu,1/2,\N,Unknown significance,\N,missense_variant,20.2,0.0000608051,EXAC_SAS_AF,POU4F3
682653,5:145718705:C>T,NM_002700.2:c.30C>T,NP_002691.1:p.Phe10=,1/2,\N,Unknown significance,\N,synonymous_variant,26.7,0.000116279,EVS_EA_AF,POU4F3
682654,5:145718706:G>A,NM_002700.2:c.31G>A,NP_002691.1:p.Gly11Ser,1/2,\N,Unknown significance,\N,missense_variant,24.5,0.000121536,EXAC_SAS_AF,POU4F3
682655,5:145718706:G>T,NM_002700.2:c.31G>T,NP_002691.1:p.Gly11Cys,1/2,\N,Unknown significance,\N,missense_variant,24.2,\N,\N,POU4F3
682656,5:145718708:C>T,NM_002700.2:c.33C>T,NP_002691.1:p.Gly11=,1/2,\N,Unknown significance,\N,synonymous_variant,23.3,0.0000150435,EXAC_NFE_AF,POU4F3
682657,5:145718710:T>C,NM_002700.2:c.35T>C,NP_002691.1:p.Met12Thr,1/2,\N,Unknown significance,\N,missense_variant,16.8,0.0000867604,EXAC_AMR_AF,POU4F3
682658,5:145718713:A>C,NM_002700.2:c.38A>C,NP_002691.1:p.His13Pro,1/2,\N,Unknown significance,\N,missense_variant,16.64,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,POU4F3
682659,5:145718721:C>G,NM_002700.2:c.46C>G,NP_002691.1:p.Leu16Val,1/2,\N,Unknown significance,\N,missense_variant,23.4,0.0000150083,EXAC_NFE_AF,POU4F3
682660,5:145718723:G>T,NM_002700.2:c.48G>T,NP_002691.1:p.Leu16=,1/2,\N,Unknown significance,\N,synonymous_variant,22,0.0000150056,EXAC_NFE_AF,POU4F3
682661,5:145718731:C>T,NM_002700.2:c.56C>T,NP_002691.1:p.Pro19Leu,1/2,\N,Unknown significance,\N,missense_variant,18.99,0.0000605767,EXAC_SAS_AF,POU4F3
682662,5:145718741:C>T,NM_002700.2:c.66C>T,NP_002691.1:p.Ser22=,1/2,\N,Unknown significance,\N,synonymous_variant,41,0.000121153,EXAC_SAS_AF,POU4F3
682663,5:145718745:C>T,NM_002700.2:c.70C>T,NP_002691.1:p.Leu24=,1/2,\N,Unknown significance,\N,synonymous_variant,23.8,0.000226963,EVS_AA_AF,POU4F3
682664,5:145718749:A>C,NM_002700.2:c.74A>C,NP_002691.1:p.His25Pro,1/2,\N,Benign,\N,missense_variant,19.84,0.01,OTO_TR_AF,POU4F3
682665,5:145718756:C>T,NM_002700.2:c.81C>T,NP_002691.1:p.Gly27=,1/2,\N,Unknown significance,\N,synonymous_variant,22.8,0.000115607,EXAC_EAS_AF,POU4F3
682666,5:145718760:G>A,NM_002700.2:c.85G>A,NP_002691.1:p.Glu29Lys,1/2,\N,Unknown significance,\N,missense_variant,25,0.0000864006,EXAC_AMR_AF,POU4F3
682667,5:145718762:G>C,NM_002700.2:c.87G>C,NP_002691.1:p.Glu29Asp,1/2,\N,Unknown significance,\N,missense_variant,23.1,0.000480677,EXAC_AFR_AF,POU4F3
682668,5:145718765:C>T,NM_002700.2:c.90C>T,NP_002691.1:p.Ala30=,1/2,\N,Benign,\N,synonymous_variant,22.7,0.1025,OTO_AJ_AF,POU4F3
682669,5:145718769:C>A,NM_002700.2:c.94C>A,NP_002691.1:p.Arg32Ser,1/2,\N,Unknown significance,\N,missense_variant,27.4,\N,\N,POU4F3
682670,5:145718770:G>C,NM_002700.2:c.95G>C,NP_002691.1:p.Arg32Pro,1/2,\N,Unknown significance,\N,missense_variant,27.4,0.000151332,EXAC_FIN_AF,POU4F3
682671,5:145718773:G>A,NM_002700.2:c.98G>A,NP_002691.1:p.Arg33Gln,1/2,\N,Unknown significance,\N,missense_variant,27.5,0.003125,OTO_CO_AF,POU4F3
682672,5:145718776:T>C,NM_002700.2:c.101T>C,NP_002691.1:p.Val34Ala,1/2,\N,Unknown significance,\N,missense_variant,2.164,0.000115607,EXAC_EAS_AF,POU4F3
682673,5:145718778:T>C,NM_002700.2:c.103T>C,NP_002691.1:p.Cys35Arg,1/2,\N,Unknown significance,\N,missense_variant,22.9,0.000116279,EVS_EA_AF,POU4F3
682674,5:145718788:C>A,NM_002700.2:c.113C>A,NP_002691.1:p.Ala38Asp,1/2,\N,Unknown significance,\N,missense_variant,24.4,0.0000864006,EXAC_AMR_AF,POU4F3
682675,5:145718803:G>A,NM_002700.2:c.120+8G>A,\N,\N,1/1,Benign,\N,splice_region_variant&intron_variant,9.935,0.0119,1KG_EAS_AF,POU4F3
682676,5:145718805:G>T,NM_002700.2:c.120+10G>T,\N,\N,1/1,Unknown significance,\N,intron_variant,10.58,0.0000149903,EXAC_NFE_AF,POU4F3
682677,5:145718806:G>A,NM_002700.2:c.120+11G>A,\N,\N,1/1,Unknown significance,\N,intron_variant,10.4,0.0000864006,EXAC_AMR_AF,POU4F3
682678,5:145718810:A>C,NM_002700.2:c.120+15A>C,\N,\N,1/1,Unknown significance,\N,intron_variant,8.672,0.000121124,EXAC_SAS_AF,POU4F3
682679,5:145718818:C>A,NM_002700.2:c.120+23C>A,\N,\N,1/1,Unknown significance,\N,intron_variant,13.85,\N,\N,POU4F3
682680,5:145718819:G>A,NM_002700.2:c.120+24G>A,\N,\N,1/1,Unknown significance,\N,intron_variant,12.24,0.000232558,EVS_EA_AF,POU4F3
682681,5:145718819:G>T,NM_002700.2:c.120+24G>T,\N,\N,1/1,Unknown significance,\N,intron_variant,11.3,0.00110132,EXAC_OTH_AF,POU4F3
682682,5:145718822:C>T,NM_002700.2:c.120+27C>T,\N,\N,1/1,Unknown significance,\N,intron_variant,15.4,\N,\N,POU4F3
682683,5:145718827:G>A,NM_002700.2:c.120+32G>A,\N,\N,1/1,Unknown significance,\N,intron_variant,16.2,0.0000864006,EXAC_AMR_AF,POU4F3
682684,5:145718827:G>T,NM_002700.2:c.120+32G>T,\N,\N,1/1,Unknown significance,\N,intron_variant,14.56,\N,\N,POU4F3
682685,5:145718828:C>A,NM_002700.2:c.120+33C>A,\N,\N,1/1,Unknown significance,\N,intron_variant,16.33,0.0000605694,EXAC_SAS_AF,POU4F3
682686,5:145718830:C>T,NM_002700.2:c.120+35C>T,\N,\N,1/1,Unknown significance,\N,intron_variant,16.06,0.000226963,EVS_AA_AF,POU4F3
682687,5:145718849:G>A,NM_002700.2:c.120+54G>A,\N,\N,1/1,Unknown significance,\N,intron_variant,15.37,0.0000864006,EXAC_AMR_AF,POU4F3
682688,5:145718858:T>G,NM_002700.2:c.120+63T>G,\N,\N,1/1,Unknown significance,\N,intron_variant,17.37,\N,\N,POU4F3
682689,5:145718870:G>T,NM_002700.2:c.120+75G>T,\N,\N,1/1,Unknown significance,\N,intron_variant,15.16,\N,\N,POU4F3
682690,5:145718882:C>T,NM_002700.2:c.120+87C>T,\N,\N,1/1,Unknown significance,\N,intron_variant,16.51,\N,\N,POU4F3
682691,5:145718885:C>A,NM_002700.2:c.120+90C>A,\N,\N,1/1,Unknown significance,\N,intron_variant,15.71,0.0008,1KG_AFR_AF,POU4F3
682692,5:145718892:T>C,NM_002700.2:c.120+97T>C,\N,\N,1/1,Unknown significance,\N,intron_variant,15.94,0.001,1KG_EAS_AF,POU4F3
682693,5:145718915:C>T,NM_002700.2:c.120+120C>T,\N,\N,1/1,Unknown significance,\N,intron_variant,16.08,0.001,1KG_EAS_AF,POU4F3
682694,5:145718918:G>C,NM_002700.2:c.120+123G>C,\N,\N,1/1,Benign,\N,intron_variant,8.724,0.005,1KG_EAS_AF,POU4F3
682695,5:145718920:T>G,NM_002700.2:c.120+125T>G,\N,\N,1/1,Unknown significance,\N,intron_variant,14.58,0.0023,1KG_AFR_AF,POU4F3
682696,5:145718920:TCTCTCCCGGCGCG>T,NM_002700.2:c.120+131_120+143del,\N,\N,1/1,Unknown significance,\N,intron_variant,\N,\N,\N,POU4F3
682697,5:145718935:T>G,NM_002700.2:c.120+140T>G,\N,\N,1/1,Benign,\N,intron_variant,11.48,0.0091,1KG_AFR_AF,POU4F3
682698,5:145718965:C>T,NM_002700.2:c.121-146C>T,\N,\N,1/1,Unknown significance,\N,intron_variant,16.92,0.002,1KG_EAS_AF,POU4F3
682699,5:145718972:T>C,NM_002700.2:c.121-139T>C,\N,\N,1/1,Unknown significance,\N,intron_variant,15.5,0.001,1KG_SAS_AF,POU4F3
682700,5:145719038:G>A,NM_002700.2:c.121-73G>A,\N,\N,1/1,Unknown significance,\N,intron_variant,17.03,\N,\N,POU4F3
682701,5:145719062:TG>T,NM_002700.2:c.121-48del,\N,\N,1/1,Unknown significance,\N,intron_variant,16.89,0.000060584,EXAC_SAS_AF,POU4F3
682702,5:145719071:T>C,NM_002700.2:c.121-40T>C,\N,\N,1/1,Unknown significance,\N,intron_variant,15.57,0.0000150602,EXAC_NFE_AF,POU4F3
682703,5:145719072:A>G,NM_002700.2:c.121-39A>G,\N,\N,1/1,Unknown significance,\N,intron_variant,16.82,0.000226963,EVS_AA_AF,POU4F3
682704,5:145719073:T>C,NM_002700.2:c.121-38T>C,\N,\N,1/1,Unknown significance,\N,intron_variant,16,0.0000864454,EXAC_AMR_AF,POU4F3
682705,5:145719075:C>G,NM_002700.2:c.121-36C>G,\N,\N,1/1,Unknown significance,\N,intron_variant,17.43,0.000346901,EXAC_EAS_AF,POU4F3
682706,5:145719085:C>T,NM_002700.2:c.121-26C>T,\N,\N,1/1,Unknown significance,\N,intron_variant,16.24,0.0000150543,EXAC_NFE_AF,POU4F3
682707,5:145719093:G>A,NM_002700.2:c.121-18G>A,\N,\N,1/1,Benign,\N,intron_variant,18.11,0.01,OTO_TR_AF,POU4F3
682708,5:145719094:C>T,NM_002700.2:c.121-17C>T,\N,\N,1/1,Unknown significance,\N,intron_variant,16.24,0.0000150525,EXAC_NFE_AF,POU4F3
682709,5:145719095:G>T,NM_002700.2:c.121-16G>T,\N,\N,1/1,Unknown significance,\N,intron_variant,15.6,0.0000605694,EXAC_SAS_AF,POU4F3
682710,5:145719097:C>G,NM_002700.2:c.121-14C>G,\N,\N,1/1,Unknown significance,\N,intron_variant,16.46,0.000116279,EVS_EA_AF,POU4F3
682711,5:145719102:C>A,NM_002700.2:c.121-9C>A,\N,\N,1/1,Unknown significance,\N,intron_variant,15.2,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,POU4F3
682712,5:145719103:G>T,NM_002700.2:c.121-8G>T,\N,\N,1/1,Unknown significance,\N,splice_region_variant&intron_variant,9.674,0.0043,1KG_AMR_AF,POU4F3
682713,5:145719108:C>T,NM_002700.2:c.121-3C>T,\N,\N,1/1,Unknown significance,\N,splice_region_variant&intron_variant,12.02,0.0000150462,EXAC_NFE_AF,POU4F3
682714,5:145719109:A>T,NM_002700.2:c.121-2A>T,\N,\N,1/1,Unknown significance,\N,splice_acceptor_variant,23.4,0.0008,1KG_AFR_AF,POU4F3
682715,5:145719112:T>C,NM_002700.2:c.122T>C,NP_002691.1:p.Leu41Pro,2/2,\N,Unknown significance,\N,missense_variant&splice_region_variant,23.2,0.000116279,EVS_EA_AF,POU4F3
682716,5:145719117:G>C,NM_002700.2:c.127G>C,NP_002691.1:p.Gly43Arg,2/2,\N,Unknown significance,\N,missense_variant,25.1,0.0000964878,EXAC_AFR_AF,POU4F3
682717,5:145719119:T>G,NM_002700.2:c.129T>G,NP_002691.1:p.Gly43=,2/2,\N,Unknown significance,\N,synonymous_variant,0.613,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,POU4F3
682718,5:145719126:T>C,NM_002700.2:c.136T>C,NP_002691.1:p.Phe46Leu,2/2,\N,Unknown significance,\N,missense_variant,23.2,0.0000150186,EXAC_NFE_AF,POU4F3
682719,5:145719133:G>C,NM_002700.2:c.143G>C,NP_002691.1:p.Ser48Thr,2/2,\N,Unknown significance,\N,missense_variant,17.94,\N,\N,POU4F3
682720,5:145719147:C>A,NM_002700.2:c.157C>A,NP_002691.1:p.Leu53Met,2/2,\N,Unknown significance,\N,missense_variant,25.4,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,POU4F3
682721,5:145719151:T>A,NM_002700.2:c.161T>A,NP_002691.1:p.Leu54Gln,2/2,\N,Unknown significance,\N,missense_variant,24.5,0.000060562,EXAC_SAS_AF,POU4F3
682722,5:145719152:G>A,NM_002700.2:c.162G>A,NP_002691.1:p.Leu54=,2/2,\N,Unknown significance,\N,synonymous_variant,4.18,\N,\N,POU4F3
682723,5:145719153:G>T,NM_002700.2:c.163G>T,NP_002691.1:p.Ala55Ser,2/2,\N,Unknown significance,\N,missense_variant,11.99,0.0000149961,EXAC_NFE_AF,POU4F3
682724,5:145719154:C>A,NM_002700.2:c.164C>A,NP_002691.1:p.Ala55Glu,2/2,\N,Unknown significance,\N,missense_variant,23.2,0.0000149952,EXAC_NFE_AF,POU4F3
682725,5:145719158:C>T,NM_002700.2:c.168C>T,NP_002691.1:p.Arg56=,2/2,\N,Unknown significance,\N,synonymous_variant,14.09,0.000060562,EXAC_SAS_AF,POU4F3
682726,5:145719159:G>A,NM_002700.2:c.169G>A,NP_002691.1:p.Ala57Thr,2/2,\N,Unknown significance,\N,missense_variant,26.3,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,POU4F3
682727,5:145719161:C>G,NM_002700.2:c.171C>G,NP_002691.1:p.Ala57=,2/2,\N,Unknown significance,\N,synonymous_variant,10.65,0.0000299895,EXAC_NFE_AF,POU4F3
682728,5:145719162:G>A,NM_002700.2:c.172G>A,NP_002691.1:p.Glu58Lys,2/2,\N,Unknown significance,\N,missense_variant,24.1,\N,\N,POU4F3
682729,5:145719168:C>A,NM_002700.2:c.178C>A,NP_002691.1:p.Leu60Met,2/2,\N,Unknown significance,\N,missense_variant,25.6,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,POU4F3
682730,5:145719169:T>C,NM_002700.2:c.179T>C,NP_002691.1:p.Leu60Pro,2/2,\N,Unknown significance,\N,missense_variant,24.6,0.000116279,EVS_EA_AF,POU4F3
682731,5:145719172:C>A,NM_002700.2:c.182C>A,NP_002691.1:p.Ala61Glu,2/2,\N,Unknown significance,\N,missense_variant,26.7,0.00015124,EXAC_FIN_AF,POU4F3
682732,5:145719181:A>G,NM_002700.2:c.191A>G,NP_002691.1:p.Asp64Gly,2/2,\N,Unknown significance,\N,missense_variant,24.6,\N,\N,POU4F3
682733,5:145719182:T>C,NM_002700.2:c.192T>C,NP_002691.1:p.Asp64=,2/2,\N,Likely benign,\N,synonymous_variant,0.032,0.0000149925,EXAC_NFE_AF,POU4F3
682734,5:145719185:C>T,NM_002700.2:c.195C>T,NP_002691.1:p.Ile65=,2/2,\N,Unknown significance,\N,synonymous_variant,12.28,0.000691204,EXAC_AMR_AF,POU4F3
682735,5:145719189:T>C,NM_002700.2:c.199T>C,NP_002691.1:p.Ser67Pro,2/2,\N,Unknown significance,\N,missense_variant,15.57,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,POU4F3
682736,5:145719194:C>T,NM_002700.2:c.204C>T,NP_002691.1:p.His68=,2/2,\N,Unknown significance,\N,synonymous_variant,10.05,\N,\N,POU4F3
682737,5:145719195:G>T,NM_002700.2:c.205G>T,NP_002691.1:p.Gly69Cys,2/2,\N,Unknown significance,\N,missense_variant,24.5,0.001,1KG_EUR_AF,POU4F3
682738,5:145719196:G>T,NM_002700.2:c.206G>T,NP_002691.1:p.Gly69Val,2/2,\N,Unknown significance,\N,missense_variant,13.83,0.0000961908,EXAC_AFR_AF,POU4F3
682739,5:145719197:C>T,NM_002700.2:c.207C>T,NP_002691.1:p.Gly69=,2/2,\N,Unknown significance,\N,synonymous_variant,8.459,0.0000864006,EXAC_AMR_AF,POU4F3
682740,5:145719202:A>C,NM_002700.2:c.212A>C,NP_002691.1:p.Asn71Thr,2/2,\N,Unknown significance,\N,missense_variant,6.111,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,POU4F3
682741,5:145719204:C>G,NM_002700.2:c.214C>G,NP_002691.1:p.His72Asp,2/2,\N,Unknown significance,\N,missense_variant,22.8,0.000232558,EVS_EA_AF,POU4F3
682742,5:145719204:C>T,NM_002700.2:c.214C>T,NP_002691.1:p.His72Tyr,2/2,\N,Unknown significance,\N,missense_variant,15.86,0.0000149921,EXAC_NFE_AF,POU4F3
682743,5:145719207:C>T,NM_002700.2:c.217C>T,NP_002691.1:p.Pro73Ser,2/2,\N,Unknown significance,\N,missense_variant,13.68,0.002,1KG_SAS_AF,POU4F3
682744,5:145719208:C>A,NM_002700.2:c.218C>A,NP_002691.1:p.Pro73Gln,2/2,\N,Unknown significance,\N,missense_variant,19.18,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,POU4F3
682745,5:145719209:G>T,NM_002700.2:c.219G>T,NP_002691.1:p.Pro73=,2/2,\N,Unknown significance,\N,synonymous_variant,6.724,0.0000961723,EXAC_AFR_AF,POU4F3
682746,5:145719220:A>G,NM_002700.2:c.230A>G,NP_002691.1:p.Asp77Gly,2/2,\N,Unknown significance,\N,missense_variant,22.7,0.00317749,EVS_AA_AF,POU4F3
682747,5:145719221:C>T,NM_002700.2:c.231C>T,NP_002691.1:p.Asp77=,2/2,\N,Unknown significance,\N,synonymous_variant,11.83,\N,\N,POU4F3
682748,5:145719222:G>A,NM_002700.2:c.232G>A,NP_002691.1:p.Ala78Thr,2/2,\N,Unknown significance,\N,missense_variant,19.16,0.000116279,EVS_EA_AF,POU4F3
682749,5:145719222:G>C,NM_002700.2:c.232G>C,NP_002691.1:p.Ala78Pro,2/2,\N,Unknown significance,\N,missense_variant,19.69,0.0000864155,EXAC_AMR_AF,POU4F3
682750,5:145719222:G>T,NM_002700.2:c.232G>T,NP_002691.1:p.Ala78Ser,2/2,\N,Unknown significance,\N,missense_variant,15.45,0.0000962649,EXAC_AFR_AF,POU4F3
682751,5:145719224:C>T,NM_002700.2:c.234C>T,NP_002691.1:p.Ala78=,2/2,\N,Unknown significance,\N,synonymous_variant,8.207,0.0000149975,EXAC_NFE_AF,POU4F3
682752,5:145719225:A>C,NM_002700.2:c.235A>C,NP_002691.1:p.Thr79Pro,2/2,\N,Benign,\N,missense_variant,14.29,0.04,OTO_TR_AF,POU4F3
682753,5:145719235:C>T,NM_002700.2:c.245C>T,NP_002691.1:p.Thr82Ile,2/2,\N,Unknown significance,\N,missense_variant,20.2,0.000226963,EVS_AA_AF,POU4F3
682754,5:145719236:C>A,NM_002700.2:c.246C>A,NP_002691.1:p.Thr82=,2/2,\N,Unknown significance,\N,synonymous_variant,13.11,0.0000605694,EXAC_SAS_AF,POU4F3
682755,5:145719238:T>C,NM_002700.2:c.248T>C,NP_002691.1:p.Met83Thr,2/2,\N,Unknown significance,\N,missense_variant,7.848,\N,\N,POU4F3
682756,5:145719239:G>A,NM_002700.2:c.249G>A,NP_002691.1:p.Met83Ile,2/2,\N,Unknown significance,\N,missense_variant,17.27,0.00011558,EXAC_EAS_AF,POU4F3
682757,5:145719243:A>T,NM_002700.2:c.253A>T,NP_002691.1:p.Ser85Cys,2/2,\N,Unknown significance,\N,missense_variant,21.1,0.000116279,EVS_EA_AF,POU4F3
682758,5:145719245:C>A,NM_002700.2:c.255C>A,NP_002691.1:p.Ser85Arg,2/2,\N,Unknown significance,\N,missense_variant,23.7,0.001,1KG_SAS_AF,POU4F3
682759,5:145719249:C>T,NM_002700.2:c.259C>T,NP_002691.1:p.Pro87Ser,2/2,\N,Likely benign,\N,missense_variant,15.69,\N,\N,POU4F3
682760,5:145719251:C>T,NM_002700.2:c.261C>T,NP_002691.1:p.Pro87=,2/2,\N,Unknown significance,\N,synonymous_variant,8.905,0.000226963,EVS_AA_AF,POU4F3
682761,5:145719255:A>T,NM_002700.2:c.265A>T,NP_002691.1:p.Thr89Ser,2/2,\N,Unknown significance,\N,missense_variant,9.389,0.0000605694,EXAC_SAS_AF,POU4F3
682762,5:145719256:C>T,NM_002700.2:c.266C>T,NP_002691.1:p.Thr89Met,2/2,\N,Unknown significance,\N,missense_variant,22.8,0.0008,1KG_AFR_AF,POU4F3
682763,5:145719257:G>A,NM_002700.2:c.267G>A,NP_002691.1:p.Thr89=,2/2,\N,Unknown significance,\N,synonymous_variant,10.98,\N,\N,POU4F3
682764,5:145719260:C>A,NM_002700.2:c.270C>A,NP_002691.1:p.Ser90=,2/2,\N,Unknown significance,\N,synonymous_variant,9.797,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,POU4F3
682765,5:145719266:G>A,NM_002700.2:c.276G>A,NP_002691.1:p.Ser92=,2/2,\N,Unknown significance,\N,synonymous_variant,8.986,0.0000605694,EXAC_SAS_AF,POU4F3
682766,5:145719266:G>T,NM_002700.2:c.276G>T,NP_002691.1:p.Ser92=,2/2,\N,Unknown significance,\N,synonymous_variant,7.306,0.0000149912,EXAC_NFE_AF,POU4F3
682767,5:145719270:A>G,NM_002700.2:c.280A>G,NP_002691.1:p.Thr94Ala,2/2,\N,Unknown significance,\N,missense_variant,11.43,0.0000149925,EXAC_NFE_AF,POU4F3
682768,5:145719270:A>C,NM_002700.2:c.280A>C,NP_002691.1:p.Thr94Pro,2/2,\N,Unknown significance,\N,missense_variant,12.51,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,POU4F3
682769,5:145719271:C>T,NM_002700.2:c.281C>T,NP_002691.1:p.Thr94Ile,2/2,\N,Unknown significance,\N,missense_variant,17.25,0.00161887,EXAC_EAS_AF,POU4F3
682770,5:145719272:C>G,NM_002700.2:c.282C>G,NP_002691.1:p.Thr94=,2/2,\N,Unknown significance,\N,synonymous_variant,10.61,0.000232558,EVS_EA_AF,POU4F3
682771,5:145719273:G>A,NM_002700.2:c.283G>A,NP_002691.1:p.Val95Met,2/2,\N,Unknown significance,\N,missense_variant,17.05,0.0000149921,EXAC_NFE_AF,POU4F3
682772,5:145719275:G>A,NM_002700.2:c.285G>A,NP_002691.1:p.Val95=,2/2,\N,Unknown significance,\N,synonymous_variant,4.4,0.000423985,EXAC_SAS_AF,POU4F3
682773,5:145719278:C>T,NM_002700.2:c.288C>T,NP_002691.1:p.Pro96=,2/2,\N,Unknown significance,\N,synonymous_variant,9.025,0.000116279,EVS_EA_AF,POU4F3
682774,5:145719283:C>G,NM_002700.2:c.293C>G,NP_002691.1:p.Ser98Cys,2/2,\N,Unknown significance,\N,missense_variant,16.44,0.000181708,EXAC_SAS_AF,POU4F3
682775,5:145719285:C>T,NM_002700.2:c.295C>T,NP_002691.1:p.His99Tyr,2/2,\N,Unknown significance,\N,missense_variant,20.9,0.000345662,EXAC_AMR_AF,POU4F3
682776,5:145719286:A>C,NM_002700.2:c.296A>C,NP_002691.1:p.His99Pro,2/2,\N,Benign,\N,missense_variant,11.58,0.005,OTO_TR_AF,POU4F3
682777,5:145719287:C>A,NM_002700.2:c.297C>A,NP_002691.1:p.His99Gln,2/2,\N,Unknown significance,\N,missense_variant,22.8,0.0000864155,EXAC_AMR_AF,POU4F3
682778,5:145719287:C>T,NM_002700.2:c.297C>T,NP_002691.1:p.His99=,2/2,\N,Benign,\N,synonymous_variant,5.048,0.00794371,EVS_AA_AF,POU4F3
682779,5:145719299:C>A,NM_002700.2:c.309C>A,NP_002691.1:p.Leu103=,2/2,\N,Unknown significance,\N,synonymous_variant,1.711,0.0000962464,EXAC_AFR_AF,POU4F3
682780,5:145719299:C>T,NM_002700.2:c.309C>T,NP_002691.1:p.Leu103=,2/2,\N,Unknown significance,\N,synonymous_variant,0.503,0.000134993,EXAC_NFE_AF,POU4F3
682781,5:145719300:A>C,NM_002700.2:c.310A>C,NP_002691.1:p.Thr104Pro,2/2,\N,Unknown significance,\N,missense_variant,1.576,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,POU4F3
682782,5:145719307:A>C,NM_002700.2:c.317A>C,NP_002691.1:p.His106Pro,2/2,\N,Benign,\N,missense_variant,1.249,0.02,OTO_TR_AF,POU4F3
682783,5:145719308:C>A,NM_002700.2:c.318C>A,NP_002691.1:p.His106Gln,2/2,\N,Unknown significance,\N,missense_variant,6.305,0.0000605767,EXAC_SAS_AF,POU4F3
682784,5:145719315:C>T,NM_002700.2:c.325C>T,NP_002691.1:p.His109Tyr,2/2,\N,Unknown significance,\N,missense_variant,20.9,0.000231535,EXAC_EAS_AF,POU4F3
682785,5:145719320:C>T,NM_002700.2:c.330C>T,NP_002691.1:p.Ala110=,2/2,\N,Unknown significance,\N,synonymous_variant,12.44,0.00204267,EVS_AA_AF,POU4F3
682786,5:145719320:C>A,NM_002700.2:c.330C>A,NP_002691.1:p.Ala110=,2/2,\N,Unknown significance,\N,synonymous_variant,14.14,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,POU4F3
682787,5:145719323:G>A,NM_002700.2:c.333G>A,NP_002691.1:p.Val111=,2/2,\N,Unknown significance,\N,synonymous_variant,1.45,0.000424242,EXAC_SAS_AF,POU4F3
682788,5:145719326:C>G,NM_002700.2:c.336C>G,NP_002691.1:p.His112Gln,2/2,\N,Likely benign,\N,missense_variant,11.76,0.0000300409,EXAC_NFE_AF,POU4F3
682789,5:145719326:C>T,NM_002700.2:c.336C>T,NP_002691.1:p.His112=,2/2,\N,Unknown significance,\N,synonymous_variant,4.91,0.0000966184,EXAC_AFR_AF,POU4F3
682790,5:145719327:CA>C,NM_002700.2:c.338del,NP_002691.1:p.Gln113ArgfsTer15,2/2,\N,Unknown significance,\N,frameshift_variant,28.5,0.000015024,EXAC_NFE_AF,POU4F3
682791,5:145719328:A>G,NM_002700.2:c.338A>G,NP_002691.1:p.Gln113Arg,2/2,\N,Unknown significance,\N,missense_variant,13.05,0.0000606134,EXAC_SAS_AF,POU4F3
682792,5:145719330:G>C,NM_002700.2:c.340G>C,NP_002691.1:p.Gly114Arg,2/2,\N,Unknown significance,\N,missense_variant,15.15,0.0000450884,EXAC_NFE_AF,POU4F3
682793,5:145719331:G>A,NM_002700.2:c.341G>A,NP_002691.1:p.Gly114Asp,2/2,\N,Unknown significance,\N,missense_variant,21,0.0000606281,EXAC_SAS_AF,POU4F3
682794,5:145719336:G>A,NM_002700.2:c.346G>A,NP_002691.1:p.Glu116Lys,2/2,\N,Unknown significance,\N,missense_variant,22.5,0.0000606208,EXAC_SAS_AF,POU4F3
682795,5:145719347:G>A,NM_002700.2:c.357G>A,NP_002691.1:p.Leu119=,2/2,\N,Unknown significance,\N,synonymous_variant,0.496,0.0000150507,EXAC_NFE_AF,POU4F3
682796,5:145719361:C>T,NM_002700.2:c.371C>T,NP_002691.1:p.Ser124Leu,2/2,\N,Unknown significance,\N,missense_variant,22.7,0.000182017,EXAC_SAS_AF,POU4F3
682797,5:145719367:C>A,NM_002700.2:c.377C>A,NP_002691.1:p.Thr126Lys,2/2,\N,Likely benign,\N,missense_variant,20.8,0.0000301577,EXAC_NFE_AF,POU4F3
682798,5:145719368:G>A,NM_002700.2:c.378G>A,NP_002691.1:p.Thr126=,2/2,\N,Benign,\N,synonymous_variant,8.477,0.0091,1KG_AFR_AF,POU4F3
682799,5:145719368:G>T,NM_002700.2:c.378G>T,NP_002691.1:p.Thr126=,2/2,\N,Likely benign,\N,synonymous_variant,2.687,\N,\N,POU4F3
682800,5:145719369:C>A,NM_002700.2:c.379C>A,NP_002691.1:p.Leu127Met,2/2,\N,Unknown significance,\N,missense_variant,21.4,0.000060687,EXAC_SAS_AF,POU4F3
682801,5:145719373:G>C,NM_002700.2:c.383G>C,NP_002691.1:p.Ser128Thr,2/2,\N,Unknown significance,\N,missense_variant,10.56,0.0000150916,EXAC_NFE_AF,POU4F3
682802,5:145719380:C>A,NM_002700.2:c.390C>A,NP_002691.1:p.Ser130Arg,2/2,\N,Unknown significance,\N,missense_variant,18.32,0.0014,1KG_AMR_AF,POU4F3
682803,5:145719390:G>A,NM_002700.2:c.400G>A,NP_002691.1:p.Ala134Thr,2/2,\N,Unknown significance,\N,missense_variant,16.81,0.000196309,EXAC_AFR_AF,POU4F3
682804,5:145719390:G>T,NM_002700.2:c.400G>T,NP_002691.1:p.Ala134Ser,2/2,\N,Unknown significance,\N,missense_variant,12.16,0.000182149,EXAC_SAS_AF,POU4F3
682805,5:145719393:C>T,NM_002700.2:c.403C>T,NP_002691.1:p.Pro135Ser,2/2,\N,Unknown significance,\N,missense_variant,10.32,0.000232612,EVS_EA_AF,POU4F3
682806,5:145719395:G>A,NM_002700.2:c.405G>A,NP_002691.1:p.Pro135=,2/2,\N,Unknown significance,\N,synonymous_variant,6.413,0.000226963,EVS_AA_AF,POU4F3
682807,5:145719396:G>A,NM_002700.2:c.406G>A,NP_002691.1:p.Glu136Lys,2/2,\N,Unknown significance,\N,missense_variant,12.09,0.0000453693,EXAC_NFE_AF,POU4F3
682808,5:145719401:C>T,NM_002700.2:c.411C>T,NP_002691.1:p.His137=,2/2,\N,Unknown significance,\N,synonymous_variant,2.006,0.0000982704,EXAC_AFR_AF,POU4F3
682809,5:145719403:C>T,NM_002700.2:c.413C>T,NP_002691.1:p.Ser138Leu,2/2,\N,Likely benign,\N,missense_variant,22.2,0.0000869868,EXAC_AMR_AF,POU4F3
682810,5:145719404:G>A,NM_002700.2:c.414G>A,NP_002691.1:p.Ser138=,2/2,\N,Unknown significance,\N,synonymous_variant,8.233,\N,\N,POU4F3
682811,5:145719411:C>A,NM_002700.2:c.421C>A,NP_002691.1:p.Pro141Thr,2/2,\N,Likely benign,\N,missense_variant,7.605,0.0023,1KG_AFR_AF,POU4F3
682812,5:145719411:C>T,NM_002700.2:c.421C>T,NP_002691.1:p.Pro141Ser,2/2,\N,Likely benign,\N,missense_variant,2.971,0.0000607091,EXAC_SAS_AF,POU4F3
682813,5:145719413:C>T,NM_002700.2:c.423C>T,NP_002691.1:p.Pro141=,2/2,\N,Unknown significance,\N,synonymous_variant,12.19,0.000121403,EXAC_SAS_AF,POU4F3
682814,5:145719414:G>A,NM_002700.2:c.424G>A,NP_002691.1:p.Ala142Thr,2/2,\N,Likely benign,\N,missense_variant,7.478,0.0000983478,EXAC_AFR_AF,POU4F3
682815,5:145719418:A>G,NM_002700.2:c.428A>G,NP_002691.1:p.Gln143Arg,2/2,\N,Unknown significance,\N,missense_variant,5.549,0.000226963,EVS_AA_AF,POU4F3
682816,5:145719422:C>A,NM_002700.2:c.432C>A,NP_002691.1:p.Ile144=,2/2,\N,Unknown significance,\N,synonymous_variant,12.58,0.0000151368,EXAC_NFE_AF,POU4F3
682817,5:145719424:A>G,NM_002700.2:c.434A>G,NP_002691.1:p.His145Arg,2/2,\N,Unknown significance,\N,missense_variant,11.04,0.0000606943,EXAC_SAS_AF,POU4F3
682818,5:145719432:C>T,NM_002700.2:c.442C>T,NP_002691.1:p.His148Tyr,2/2,\N,Unknown significance,\N,missense_variant,17.61,0.0000606796,EXAC_SAS_AF,POU4F3
682819,5:145719435:C>A,NM_002700.2:c.445C>A,NP_002691.1:p.Leu149Met,2/2,\N,Likely benign,\N,missense_variant,15.5,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,POU4F3
682820,5:145719436:T>C,NM_002700.2:c.446T>C,NP_002691.1:p.Leu149Pro,2/2,\N,Unknown significance,\N,missense_variant,13.83,0.000364078,EXAC_SAS_AF,POU4F3
682821,5:145719439:G>A,NM_002700.2:c.449G>A,NP_002691.1:p.Gly150Asp,2/2,\N,Unknown significance,\N,missense_variant,10.71,0.0000303168,EXAC_NFE_AF,POU4F3
682822,5:145719452:C>G,NM_002700.2:c.462C>G,NP_002691.1:p.His154Gln,2/2,\N,Likely benign,\N,missense_variant,4.688,0.000015169,EXAC_NFE_AF,POU4F3
682823,5:145719454:T>C,NM_002700.2:c.464T>C,NP_002691.1:p.Leu155Pro,2/2,\N,Unknown significance,\N,missense_variant,12.59,0.0000869565,EXAC_AMR_AF,POU4F3
682824,5:145719458:C>G,NM_002700.2:c.468C>G,NP_002691.1:p.His156Gln,2/2,\N,Likely benign,\N,missense_variant,8.77,0.0000151736,EXAC_NFE_AF,POU4F3
682825,5:145719465:A>G,NM_002700.2:c.475A>G,NP_002691.1:p.Met159Val,2/2,\N,Unknown significance,\N,missense_variant,3.918,0.0000303591,EXAC_NFE_AF,POU4F3
682826,5:145719467:G>A,NM_002700.2:c.477G>A,NP_002691.1:p.Met159Ile,2/2,\N,Unknown significance,\N,missense_variant,13.65,0.000116306,EVS_EA_AF,POU4F3
682827,5:145719474:A>G,NM_002700.2:c.484A>G,NP_002691.1:p.Ser162Gly,2/2,\N,Unknown significance,\N,missense_variant,6.642,0.0000151893,EXAC_NFE_AF,POU4F3
682828,5:145719479:C>T,NM_002700.2:c.489C>T,NP_002691.1:p.His163=,2/2,\N,Unknown significance,\N,synonymous_variant,4.816,0.000226963,EVS_AA_AF,POU4F3
682829,5:145719480:C>T,NM_002700.2:c.490C>T,NP_002691.1:p.Pro164Ser,2/2,\N,Unknown significance,\N,missense_variant,14.85,0.000232612,EVS_EA_AF,POU4F3
682830,5:145719480:C>A,NM_002700.2:c.490C>A,NP_002691.1:p.Pro164Thr,2/2,\N,Unknown significance,\N,missense_variant,17.52,0.000121374,EXAC_SAS_AF,POU4F3
682831,5:145719481:C>T,NM_002700.2:c.491C>T,NP_002691.1:p.Pro164Leu,2/2,\N,Unknown significance,\N,missense_variant,21.6,0.000116306,EVS_EA_AF,POU4F3
682832,5:145719481:C>G,NM_002700.2:c.491C>G,NP_002691.1:p.Pro164Arg,2/2,\N,Pathogenic,Hearing loss,missense_variant,23.2,0.001,1KG_EAS_AF,POU4F3
682833,5:145719482:G>T,NM_002700.2:c.492G>T,NP_002691.1:p.Pro164=,2/2,\N,Unknown significance,\N,synonymous_variant,3.397,0.0000152161,EXAC_NFE_AF,POU4F3
682834,5:145719488:C>T,NM_002700.2:c.498C>T,NP_002691.1:p.Thr166=,2/2,\N,Unknown significance,\N,synonymous_variant,11.58,0.0000994233,EXAC_AFR_AF,POU4F3
682835,5:145719490:TG>T,NM_002700.2:c.502del,NP_002691.1:p.Ala168ProfsTer36,2/2,\N,Unknown significance,\N,frameshift_variant,26.9,0.0000152253,EXAC_NFE_AF,POU4F3
682836,5:145719493:C>A,NM_002700.2:c.503C>A,NP_002691.1:p.Ala168Asp,2/2,\N,Likely benign,\N,missense_variant,19.66,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,POU4F3
682837,5:145719495:C>G,NM_002700.2:c.505C>G,NP_002691.1:p.Pro169Ala,2/2,\N,Likely benign,\N,missense_variant,6.655,0.0000152309,EXAC_NFE_AF,POU4F3
682838,5:145719495:C>T,NM_002700.2:c.505C>T,NP_002691.1:p.Pro169Ser,2/2,\N,Likely benign,\N,missense_variant,9.159,0.000117316,EXAC_EAS_AF,POU4F3
682839,5:145719499:A>G,NM_002700.2:c.509A>G,NP_002691.1:p.His170Arg,2/2,\N,Unknown significance,\N,missense_variant,16.28,0.000116306,EVS_EA_AF,POU4F3
682840,5:145719503:C>A,NM_002700.2:c.513C>A,NP_002691.1:p.Ser171Arg,2/2,\N,Unknown significance,\N,missense_variant,15.45,0.003125,OTO_US_AF,POU4F3
682841,5:145719503:C>T,NM_002700.2:c.513C>T,NP_002691.1:p.Ser171=,2/2,\N,Unknown significance,\N,synonymous_variant,11.53,0.000242984,EXAC_SAS_AF,POU4F3
682842,5:145719504:G>T,NM_002700.2:c.514G>T,NP_002691.1:p.Ala172Ser,2/2,\N,Likely benign,\N,missense_variant,6.295,0.0000304841,EXAC_NFE_AF,POU4F3
682843,5:145719505:C>T,NM_002700.2:c.515C>T,NP_002691.1:p.Ala172Val,2/2,\N,Likely benign,\N,missense_variant,11.6,0.000352278,EXAC_EAS_AF,POU4F3
682844,5:145719507:A>T,NM_002700.2:c.517A>T,NP_002691.1:p.Met173Leu,2/2,\N,Unknown significance,\N,missense_variant,4.624,0.000453926,EVS_AA_AF,POU4F3
682845,5:145719510:C>T,NM_002700.2:c.520C>T,NP_002691.1:p.Pro174Ser,2/2,\N,Unknown significance,\N,missense_variant,10.07,0.0000152462,EXAC_NFE_AF,POU4F3
682846,5:145719511:C>A,NM_002700.2:c.521C>A,NP_002691.1:p.Pro174His,2/2,\N,Unknown significance,\N,missense_variant,13.72,\N,\N,POU4F3
682847,5:145719516:T>G,NM_002700.2:c.526T>G,NP_002691.1:p.Cys176Gly,2/2,\N,Unknown significance,\N,missense_variant,6.706,0.000226963,EVS_AA_AF,POU4F3
682848,5:145719517:G>A,NM_002700.2:c.527G>A,NP_002691.1:p.Cys176Tyr,2/2,\N,Unknown significance,\N,missense_variant,14.34,0.0000152565,EXAC_NFE_AF,POU4F3
682849,5:145719520:T>C,NM_002700.2:c.530T>C,NP_002691.1:p.Leu177Pro,2/2,\N,Unknown significance,\N,missense_variant,10.99,0.0000997407,EXAC_AFR_AF,POU4F3
682850,5:145719523:G>C,NM_002700.2:c.533G>C,NP_002691.1:p.Ser178Thr,2/2,\N,Unknown significance,\N,missense_variant,8.213,0.000121566,EXAC_SAS_AF,POU4F3
682851,5:145719527:C>A,NM_002700.2:c.537C>A,NP_002691.1:p.Asp179Glu,2/2,\N,Unknown significance,\N,missense_variant,21.2,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,POU4F3
682852,5:145719533:G>A,NM_002700.2:c.543G>A,NP_002691.1:p.Glu181=,2/2,\N,Unknown significance,\N,synonymous_variant,1.081,0.0000152788,EXAC_NFE_AF,POU4F3
682853,5:145719538:A>C,NM_002700.2:c.548A>C,NP_002691.1:p.Asp183Ala,2/2,\N,Unknown significance,\N,missense_variant,24.2,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,POU4F3
682854,5:145719539:C>A,NM_002700.2:c.549C>A,NP_002691.1:p.Asp183Glu,2/2,\N,Unknown significance,\N,missense_variant,23,0.001,1KG_EAS_AF,POU4F3
682855,5:145719541:C>T,NM_002700.2:c.551C>T,NP_002691.1:p.Pro184Leu,2/2,\N,Unknown significance,\N,missense_variant,24.5,0.0000152905,EXAC_NFE_AF,POU4F3
682856,5:145719543:C>G,NM_002700.2:c.553C>G,NP_002691.1:p.Arg185Gly,2/2,\N,Unknown significance,\N,missense_variant,27.1,0.000015291,EXAC_NFE_AF,POU4F3
682857,5:145719543:C>T,NM_002700.2:c.553C>T,NP_002691.1:p.Arg185Cys,2/2,\N,Unknown significance,\N,missense_variant,31,0.0000764549,EXAC_NFE_AF,POU4F3
682858,5:145719551:G>A,NM_002700.2:c.561G>A,NP_002691.1:p.Leu187=,2/2,\N,Unknown significance,\N,synonymous_variant,1.594,\N,\N,POU4F3
682859,5:145719554:A>G,NM_002700.2:c.564A>G,NP_002691.1:p.Glu188=,2/2,\N,Unknown significance,\N,synonymous_variant,0.089,\N,\N,POU4F3
682860,5:145719563:C>G,NM_002700.2:c.573C>G,NP_002691.1:p.Ala191=,2/2,\N,Unknown significance,\N,synonymous_variant,9.185,0.0014,1KG_AMR_AF,POU4F3
682861,5:145719566:G>A,NM_002700.2:c.576G>A,NP_002691.1:p.Glu192=,2/2,\N,Unknown significance,\N,synonymous_variant,1.307,0.0000305521,EXAC_NFE_AF,POU4F3
682862,5:145719568:G>T,NM_002700.2:c.578G>T,NP_002691.1:p.Arg193Leu,2/2,\N,Unknown significance,\N,missense_variant,23.9,0.0000607386,EXAC_SAS_AF,POU4F3
682863,5:145719572:C>A,NM_002700.2:c.582C>A,NP_002691.1:p.Phe194Leu,2/2,\N,Unknown significance,\N,missense_variant,27.9,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,POU4F3
682864,5:145719579:C>A,NM_002700.2:c.589C>A,NP_002691.1:p.Arg197=,2/2,\N,Unknown significance,\N,synonymous_variant,16.41,0.000521195,EXAC_AMR_AF,POU4F3
682865,5:145719580:G>C,NM_002700.2:c.590G>C,NP_002691.1:p.Arg197Pro,2/2,\N,Unknown significance,\N,missense_variant,28.8,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,POU4F3
682866,5:145719590:G>A,NM_002700.2:c.600G>A,NP_002691.1:p.Lys200=,2/2,\N,Unknown significance,\N,synonymous_variant,5.355,0.000260281,EXAC_AMR_AF,POU4F3
682867,5:145719592:TGG>T,NM_002700.2:c.606_607del,NP_002691.1:p.Val203AspfsTer11,2/2,\N,Pathogenic,Deafness| non-syndromic,frameshift_variant,34,\N,\N,POU4F3
682868,5:145719598:T>G,NM_002700.2:c.608T>G,NP_002691.1:p.Val203Gly,2/2,\N,Unknown significance,\N,missense_variant,25.1,0.003125,OTO_US_AF,POU4F3
682869,5:145719599:G>A,NM_002700.2:c.609G>A,NP_002691.1:p.Val203=,2/2,\N,Unknown significance,\N,synonymous_variant,3.316,0.0000605987,EXAC_SAS_AF,POU4F3
682870,5:145719610:A>G,NM_002700.2:c.620A>G,NP_002691.1:p.Asp207Gly,2/2,\N,Unknown significance,\N,missense_variant,26.1,0.001,1KG_SAS_AF,POU4F3
682871,5:145719613:T>C,NM_002700.2:c.623T>C,NP_002691.1:p.Val208Ala,2/2,\N,Unknown significance,\N,missense_variant,24.7,0.00011609,EXAC_EAS_AF,POU4F3
682872,5:145719614:G>A,NM_002700.2:c.624G>A,NP_002691.1:p.Val208=,2/2,\N,Unknown significance,\N,synonymous_variant,4.333,0.0000911383,EXAC_NFE_AF,POU4F3
682873,5:145719617:C>A,NM_002700.2:c.627C>A,NP_002691.1:p.Gly209=,2/2,\N,Unknown significance,\N,synonymous_variant,13.26,0.0000605767,EXAC_SAS_AF,POU4F3
682874,5:145719620:G>A,NM_002700.2:c.630G>A,NP_002691.1:p.Ala210=,2/2,\N,Unknown significance,\N,synonymous_variant,8.869,0.000116063,EXAC_EAS_AF,POU4F3
682875,5:145719621:G>T,NM_002700.2:c.631G>T,NP_002691.1:p.Ala211Ser,2/2,\N,Unknown significance,\N,missense_variant,25.4,0.000116036,EXAC_EAS_AF,POU4F3
682876,5:145719622:C>A,NM_002700.2:c.632C>A,NP_002691.1:p.Ala211Asp,2/2,\N,Unknown significance,\N,missense_variant,27,0.0000151759,EXAC_NFE_AF,POU4F3
682877,5:145719644:C>T,NM_002700.2:c.654C>T,NP_002691.1:p.Pro218=,2/2,\N,Unknown significance,\N,synonymous_variant,10.53,0.001,1KG_SAS_AF,POU4F3
682878,5:145719648:G>A,NM_002700.2:c.658G>A,NP_002691.1:p.Val220Met,2/2,\N,Unknown significance,\N,missense_variant,26.4,0.000115955,EXAC_EAS_AF,POU4F3
682879,5:145719651:G>A,NM_002700.2:c.661G>A,NP_002691.1:p.Gly221Ser,2/2,\N,Unknown significance,\N,missense_variant,25.6,0.0000302801,EXAC_NFE_AF,POU4F3
682880,5:145719651:GGCTCGCTGAGCCAA>G,NM_002700.2:c.662_675del,NP_002691.1:p.Gly221GlufsTer77,2/2,\N,Pathogenic,Deafness| non-syndromic| autosomal dominant,frameshift_variant,34,\N,\N,POU4F3
682881,5:145719653:C>A,NM_002700.2:c.663C>A,NP_002691.1:p.Gly221=,2/2,\N,Benign,\N,synonymous_variant,8.603,0.0212,1KG_AFR_AF,POU4F3
682882,5:145719656:G>A,NM_002700.2:c.666G>A,NP_002691.1:p.Ser222=,2/2,\N,Unknown significance,\N,synonymous_variant,2.789,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,POU4F3
682883,5:145719658:T>C,NM_002700.2:c.668T>C,NP_002691.1:p.Leu223Pro,2/2,\N,Pathogenic,Deafness| non-syndromic| autosomal dominant,missense_variant,24.7,\N,\N,POU4F3
682884,5:145719659:G>A,NM_002700.2:c.669G>A,NP_002691.1:p.Leu223=,2/2,\N,Unknown significance,\N,synonymous_variant,0.238,0.0000976753,EXAC_AFR_AF,POU4F3
682885,5:145719669:A>C,NM_002700.2:c.679A>C,NP_002691.1:p.Thr227Pro,2/2,\N,Unknown significance,\N,missense_variant,24.4,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,POU4F3
682886,5:145719679:G>A,NM_002700.2:c.689G>A,NP_002691.1:p.Arg230Lys,2/2,\N,Unknown significance,\N,missense_variant,25.8,0.000116279,EVS_EA_AF,POU4F3
682887,5:145719680:G>T,NM_002700.2:c.690G>T,NP_002691.1:p.Arg230Ser,2/2,\N,Unknown significance,\N,missense_variant,26.2,0.0000150975,EXAC_NFE_AF,POU4F3
682888,5:145719684:G>A,NM_002700.2:c.694G>A,NP_002691.1:p.Glu232Lys,2/2,\N,Pathogenic,Hearing loss,missense_variant,29.9,\N,\N,POU4F3
682889,5:145719692:C>T,NM_002700.2:c.702C>T,NP_002691.1:p.Leu234=,2/2,\N,Unknown significance,\N,synonymous_variant,6.79,0.00230191,EXAC_SAS_AF,POU4F3
682890,5:145719693:A>C,NM_002700.2:c.703A>C,NP_002691.1:p.Thr235Pro,2/2,\N,Unknown significance,\N,missense_variant,24.1,0.003125,OTO_US_AF,POU4F3
682891,5:145719701:G>A,NM_002700.2:c.711G>A,NP_002691.1:p.Ser237=,2/2,\N,Unknown significance,\N,synonymous_variant,8.932,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,POU4F3
682892,5:145719703:A>G,NM_002700.2:c.713A>G,NP_002691.1:p.His238Arg,2/2,\N,Unknown significance,\N,missense_variant,23.5,0.0000150861,EXAC_NFE_AF,POU4F3
682893,5:145719713:G>A,NM_002700.2:c.723G>A,NP_002691.1:p.Met241Ile,2/2,\N,Unknown significance,\N,missense_variant,26.3,0.00111607,EXAC_OTH_AF,POU4F3
682894,5:145719716:C>A,NM_002700.2:c.726C>A,NP_002691.1:p.Ile242=,2/2,\N,Unknown significance,\N,synonymous_variant,16.99,\N,\N,POU4F3
682895,5:145719718:C>T,NM_002700.2:c.728C>T,NP_002691.1:p.Ala243Val,2/2,\N,Unknown significance,\N,missense_variant,26.6,\N,\N,POU4F3
682896,5:145719722:C>G,NM_002700.2:c.732C>G,NP_002691.1:p.Leu244=,2/2,\N,Unknown significance,\N,synonymous_variant,0.801,0.000115875,EXAC_EAS_AF,POU4F3
682897,5:145719726:C>A,NM_002700.2:c.736C>A,NP_002691.1:p.Pro246Thr,2/2,\N,Pathogenic,Deafness,missense_variant,25.9,\N,\N,POU4F3
682898,5:145719728:G>T,NM_002700.2:c.738G>T,NP_002691.1:p.Pro246=,2/2,\N,Unknown significance,\N,synonymous_variant,7.095,\N,\N,POU4F3
682899,5:145719731:G>C,NM_002700.2:c.741G>C,NP_002691.1:p.Val247=,2/2,\N,Unknown significance,\N,synonymous_variant,0.437,0.000030175,EXAC_NFE_AF,POU4F3
682900,5:145719732:C>T,NM_002700.2:c.742C>T,NP_002691.1:p.Leu248Phe,2/2,\N,Unknown significance,\N,missense_variant,26.4,0.000226963,EVS_AA_AF,POU4F3
682901,5:145719739:C>T,NM_002700.2:c.749C>T,NP_002691.1:p.Ala250Val,2/2,\N,Unknown significance,\N,missense_variant,27.3,0.000116279,EVS_EA_AF,POU4F3
682902,5:145719746:G>A,NM_002700.2:c.756G>A,NP_002691.1:p.Leu252=,2/2,\N,Unknown significance,\N,synonymous_variant,3.452,0.0000301996,EXAC_NFE_AF,POU4F3
682903,5:145719750:G>A,NM_002700.2:c.760G>A,NP_002691.1:p.Glu254Lys,2/2,\N,Unknown significance,\N,missense_variant,24.2,0.0000976563,EXAC_AFR_AF,POU4F3
682904,5:145719756:G>T,NM_002700.2:c.766G>T,NP_002691.1:p.Glu256Ter,2/2,\N,Unknown significance,\N,stop_gained,42,\N,\N,POU4F3
682905,5:145719759:G>A,NM_002700.2:c.769G>A,NP_002691.1:p.Ala257Thr,2/2,\N,Unknown significance,\N,missense_variant,20.5,0.000015103,EXAC_NFE_AF,POU4F3
682906,5:145719760:C>G,NM_002700.2:c.770C>G,NP_002691.1:p.Ala257Gly,2/2,\N,Unknown significance,\N,missense_variant,14.54,0.0000151021,EXAC_NFE_AF,POU4F3
682907,5:145719768:C>A,NM_002700.2:c.778C>A,NP_002691.1:p.Arg260=,2/2,\N,Unknown significance,\N,synonymous_variant,17.2,0.001,1KG_SAS_AF,POU4F3
682908,5:145719769:G>A,NM_002700.2:c.779G>A,NP_002691.1:p.Arg260Gln,2/2,\N,Unknown significance,\N,missense_variant,24.8,0.0008,1KG_AFR_AF,POU4F3
682909,5:145719769:G>T,NM_002700.2:c.779G>T,NP_002691.1:p.Arg260Leu,2/2,\N,Unknown significance,\N,missense_variant,23,0.0000150902,EXAC_NFE_AF,POU4F3
682910,5:145719771:GAGA>G,NM_002700.2:c.786_788del,NP_002691.1:p.Lys262del,2/2,\N,Unknown significance,\N,inframe_deletion,11.89,0.0000973331,EXAC_AFR_AF,POU4F3
682911,5:145719771:G>A,NM_002700.2:c.781G>A,NP_002691.1:p.Glu261Lys,2/2,\N,Unknown significance,\N,missense_variant,22.2,0.0000605694,EXAC_SAS_AF,POU4F3
682912,5:145719773:G>A,NM_002700.2:c.783G>A,NP_002691.1:p.Glu261=,2/2,\N,Unknown significance,\N,synonymous_variant,5.312,0.000115982,EXAC_EAS_AF,POU4F3
682913,5:145719775:A>C,NM_002700.2:c.785A>C,NP_002691.1:p.Lys262Thr,2/2,\N,Unknown significance,\N,missense_variant,22.7,0.0000150902,EXAC_NFE_AF,POU4F3
682914,5:145719781:G>A,NM_002700.2:c.791G>A,NP_002691.1:p.Ser264Asn,2/2,\N,Likely benign,\N,missense_variant,8.979,0.0000150857,EXAC_NFE_AF,POU4F3
682915,5:145719782:C>A,NM_002700.2:c.792C>A,NP_002691.1:p.Ser264Arg,2/2,\N,Likely benign,\N,missense_variant,16.56,0.0000150861,EXAC_NFE_AF,POU4F3
682916,5:145719782:C>T,NM_002700.2:c.792C>T,NP_002691.1:p.Ser264=,2/2,\N,Benign,\N,synonymous_variant,8.88,0.01,OTO_JP_AF,POU4F3
682917,5:145719788:A>G,NM_002700.2:c.798A>G,NP_002691.1:p.Pro266=,2/2,\N,Unknown significance,\N,synonymous_variant,0.142,0.0014,1KG_AMR_AF,POU4F3
682918,5:145719789:G>C,NM_002700.2:c.799G>C,NP_002691.1:p.Glu267Gln,2/2,\N,Unknown significance,\N,missense_variant,17.36,0.000453926,EVS_AA_AF,POU4F3
682919,5:145719791:G>A,NM_002700.2:c.801G>A,NP_002691.1:p.Glu267=,2/2,\N,Unknown significance,\N,synonymous_variant,3.29,0.000347947,EXAC_EAS_AF,POU4F3
682920,5:145719801:G>A,NM_002700.2:c.811G>A,NP_002691.1:p.Gly271Ser,2/2,\N,Unknown significance,\N,missense_variant,22.9,0.0000452516,EXAC_NFE_AF,POU4F3
682921,5:145719801:G>C,NM_002700.2:c.811G>C,NP_002691.1:p.Gly271Arg,2/2,\N,Unknown significance,\N,missense_variant,23.9,0.000116279,EVS_EA_AF,POU4F3
682922,5:145719803:C>T,NM_002700.2:c.813C>T,NP_002691.1:p.Gly271=,2/2,\N,Unknown significance,\N,synonymous_variant,10.12,0.0000150861,EXAC_NFE_AF,POU4F3
682923,5:145719803:C>A,NM_002700.2:c.813C>A,NP_002691.1:p.Gly271=,2/2,\N,Unknown significance,\N,synonymous_variant,11.22,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,POU4F3
682924,5:145719806:C>G,NM_002700.2:c.816C>G,NP_002691.1:p.Ser272Arg,2/2,\N,Unknown significance,\N,missense_variant,15.04,0.000015082,EXAC_NFE_AF,POU4F3
682925,5:145719811:G>A,NM_002700.2:c.821G>A,NP_002691.1:p.Arg274Gln,2/2,\N,Unknown significance,\N,missense_variant,25.2,0.000116009,EXAC_EAS_AF,POU4F3
682926,5:145719818:C>A,NM_002700.2:c.828C>A,NP_002691.1:p.Arg276=,2/2,\N,Unknown significance,\N,synonymous_variant,13.65,0.0000864902,EXAC_AMR_AF,POU4F3
682927,5:145719820:A>G,NM_002700.2:c.830A>G,NP_002691.1:p.Lys277Arg,2/2,\N,Unknown significance,\N,missense_variant,23.9,0.000232558,EVS_EA_AF,POU4F3
682928,5:145719823:G>A,NM_002700.2:c.833G>A,NP_002691.1:p.Arg278His,2/2,\N,Unknown significance,\N,missense_variant,33,\N,\N,POU4F3
682929,5:145719824:C>T,NM_002700.2:c.834C>T,NP_002691.1:p.Arg278=,2/2,\N,Unknown significance,\N,synonymous_variant,12.06,0.000116279,EVS_EA_AF,POU4F3
682930,5:145719826:C>T,NM_002700.2:c.836C>T,NP_002691.1:p.Thr279Met,2/2,\N,Unknown significance,\N,missense_variant,32,0.0000150757,EXAC_NFE_AF,POU4F3
682931,5:145719827:G>T,NM_002700.2:c.837G>T,NP_002691.1:p.Thr279=,2/2,\N,Benign,\N,synonymous_variant,8.838,0.0976,1KG_AFR_AF,POU4F3
682932,5:145719833:C>T,NM_002700.2:c.843C>T,NP_002691.1:p.Ile281=,2/2,\N,Unknown significance,\N,synonymous_variant,15.8,0.0000605694,EXAC_SAS_AF,POU4F3
682933,5:145719838:C>T,NM_002700.2:c.848C>T,NP_002691.1:p.Ala283Val,2/2,\N,Likely pathogenic,\N,missense_variant,23.3,\N,\N,POU4F3
682934,5:145719838:C>A,NM_002700.2:c.848C>A,NP_002691.1:p.Ala283Glu,2/2,\N,Unknown significance,\N,missense_variant,33,0.0000150711,EXAC_NFE_AF,POU4F3
682935,5:145719839:G>A,NM_002700.2:c.849G>A,NP_002691.1:p.Ala283=,2/2,\N,Unknown significance,\N,synonymous_variant,12.2,0.0000150739,EXAC_NFE_AF,POU4F3
682936,5:145719839:G>T,NM_002700.2:c.849G>T,NP_002691.1:p.Ala283=,2/2,\N,Unknown significance,\N,synonymous_variant,10.46,0.000226963,EVS_AA_AF,POU4F3
682937,5:145719841:C>G,NM_002700.2:c.851C>G,NP_002691.1:p.Pro284Arg,2/2,\N,Unknown significance,\N,missense_variant,26.6,0.000116009,EXAC_EAS_AF,POU4F3
682938,5:145719842:G>A,NM_002700.2:c.852G>A,NP_002691.1:p.Pro284=,2/2,\N,Unknown significance,\N,synonymous_variant,11.69,0.000290248,EXAC_AFR_AF,POU4F3
682939,5:145719851:T>C,NM_002700.2:c.861T>C,NP_002691.1:p.Arg287=,2/2,\N,Unknown significance,\N,synonymous_variant,0.079,0.0000605694,EXAC_SAS_AF,POU4F3
682940,5:145719854:A>G,NM_002700.2:c.864A>G,NP_002691.1:p.Ser288=,2/2,\N,Unknown significance,\N,synonymous_variant,1.27,0.0000150757,EXAC_NFE_AF,POU4F3
682941,5:145719854:A>C,NM_002700.2:c.864A>C,NP_002691.1:p.Ser288=,2/2,\N,Unknown significance,\N,synonymous_variant,0.025,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,POU4F3
682942,5:145719855:C>T,NM_002700.2:c.865C>T,NP_002691.1:p.Leu289Phe,2/2,\N,Pathogenic,Deafness| non-syndromic| autosomal dominant,missense_variant,25.8,\N,\N,POU4F3
682943,5:145719858:G>A,NM_002700.2:c.868G>A,NP_002691.1:p.Glu290Lys,2/2,\N,Unknown significance,\N,missense_variant,32,0.0000865351,EXAC_AMR_AF,POU4F3
682944,5:145719858:G>C,NM_002700.2:c.868G>C,NP_002691.1:p.Glu290Gln,2/2,\N,Unknown significance,\N,missense_variant,26.4,0.0000150748,EXAC_NFE_AF,POU4F3
682945,5:145719869:CGCTATCCA>C,NM_002700.2:c.882_889del,NP_002691.1:p.Ile295ThrfsTer5,2/2,\N,Pathogenic,Deafness| non-syndromic| autosomal dominant,frameshift_variant,35,\N,\N,POU4F3
682946,5:145719869:C>T,NM_002700.2:c.879C>T,NP_002691.1:p.Phe293=,2/2,\N,Unknown significance,\N,synonymous_variant,13.96,0.00017307,EXAC_AMR_AF,POU4F3
682947,5:145719870:G>T,NM_002700.2:c.880G>T,NP_002691.1:p.Ala294Ser,2/2,\N,Unknown significance,\N,missense_variant,21.2,0.000121153,EXAC_SAS_AF,POU4F3
682948,5:145719881:A>G,NM_002700.2:c.891A>G,NP_002691.1:p.Pro297=,2/2,\N,Unknown significance,\N,synonymous_variant,0.111,0.0000150684,EXAC_NFE_AF,POU4F3
682949,5:145719884:T>A,NM_002700.2:c.894T>A,NP_002691.1:p.Arg298=,2/2,\N,Unknown significance,\N,synonymous_variant,4.921,0.000116279,EVS_EA_AF,POU4F3
682950,5:145719885:C>T,NM_002700.2:c.895C>T,NP_002691.1:p.Pro299Ser,2/2,\N,Unknown significance,\N,missense_variant,26.7,0.00111359,EXAC_OTH_AF,POU4F3
682951,5:145719888:T>A,NM_002700.2:c.898T>A,NP_002691.1:p.Ser300Thr,2/2,\N,Unknown significance,\N,missense_variant,24.6,0.0000967305,EXAC_AFR_AF,POU4F3
682952,5:145719896:G>A,NM_002700.2:c.906G>A,NP_002691.1:p.Glu302=,2/2,\N,Unknown significance,\N,synonymous_variant,4.885,\N,\N,POU4F3
682953,5:145719907:C>T,NM_002700.2:c.917C>T,NP_002691.1:p.Ala306Val,2/2,\N,Unknown significance,\N,missense_variant,24.1,0.0000605767,EXAC_SAS_AF,POU4F3
682954,5:145719908:C>T,NM_002700.2:c.918C>T,NP_002691.1:p.Ala306=,2/2,\N,Unknown significance,\N,synonymous_variant,8.699,0.0000605767,EXAC_SAS_AF,POU4F3
682955,5:145719917:G>T,NM_002700.2:c.927G>T,NP_002691.1:p.Glu309Asp,2/2,\N,Unknown significance,\N,missense_variant,19.16,0.0000150861,EXAC_NFE_AF,POU4F3
682956,5:145719935:G>C,NM_002700.2:c.945G>C,NP_002691.1:p.Lys315Asn,2/2,\N,Unknown significance,\N,missense_variant,24.9,0.001,1KG_EAS_AF,POU4F3
682957,5:145719937:A>C,NM_002700.2:c.947A>C,NP_002691.1:p.Asn316Thr,2/2,\N,Unknown significance,\N,missense_variant,25.7,0.0000606061,EXAC_SAS_AF,POU4F3
682958,5:145719938:C>G,NM_002700.2:c.948C>G,NP_002691.1:p.Asn316Lys,2/2,\N,Benign,\N,missense_variant,26.4,0.00833333,OTO_ES_AF,POU4F3
682959,5:145719950:C>G,NM_002700.2:c.960C>G,NP_002691.1:p.Val320=,2/2,\N,Unknown significance,\N,synonymous_variant,11.09,0.0000151704,EXAC_NFE_AF,POU4F3
682960,5:145719962:C>T,NM_002700.2:c.972C>T,NP_002691.1:p.Asn324=,2/2,\N,Unknown significance,\N,synonymous_variant,10.41,0.0000152156,EXAC_NFE_AF,POU4F3
682961,5:145719967:G>A,NM_002700.2:c.977G>A,NP_002691.1:p.Arg326Lys,2/2,\N,Pathogenic,Deafness| non-syndromic| autosomal dominant,missense_variant,28.2,\N,\N,POU4F3
682962,5:145719977:G>A,NM_002700.2:c.987G>A,NP_002691.1:p.Gln329=,2/2,\N,Unknown significance,\N,synonymous_variant,6.579,0.001,1KG_EUR_AF,POU4F3
682963,5:145719989:G>A,NM_002700.2:c.999G>A,NP_002691.1:p.Lys333=,2/2,\N,Unknown significance,\N,synonymous_variant,8.537,0.0000868357,EXAC_AMR_AF,POU4F3
682964,5:145719994:C>T,NM_002700.2:c.1004C>T,NP_002691.1:p.Ser335Leu,2/2,\N,Unknown significance,\N,missense_variant,31,0.000116822,EXAC_EAS_AF,POU4F3
682965,5:145719995:G>C,NM_002700.2:c.1005G>C,NP_002691.1:p.Ser335=,2/2,\N,Unknown significance,\N,synonymous_variant,6.104,0.0000464425,EXAC_NFE_AF,POU4F3
682966,5:145719996:GC>G,NM_002700.2:c.1007del,NP_002691.1:p.Ala336ValfsTer?,2/2,\N,Pathogenic,Hearing loss| early-childhood,frameshift_variant,35,\N,\N,POU4F3
682967,5:145720012:G>T,NM_002700.2:c.*5G>T,\N,2/2,\N,Unknown significance,\N,3_prime_UTR_variant,0.514,0.0000610277,EXAC_SAS_AF,POU4F3
682968,5:145720020:G>A,NM_002700.2:c.*13G>A,\N,2/2,\N,Unknown significance,\N,3_prime_UTR_variant,0.528,0.000305362,EXAC_SAS_AF,POU4F3
682969,5:145720022:A>T,NM_002700.2:c.*15A>T,\N,2/2,\N,Unknown significance,\N,3_prime_UTR_variant,0.02,0.0000158233,EXAC_NFE_AF,POU4F3
682970,5:145720023:G>A,NM_002700.2:c.*16G>A,\N,2/2,\N,Unknown significance,\N,3_prime_UTR_variant,0.034,\N,\N,POU4F3
682971,5:145720024:C>A,NM_002700.2:c.*17C>A,\N,2/2,\N,Unknown significance,\N,3_prime_UTR_variant,1.721,0.0000610874,EXAC_SAS_AF,POU4F3
682972,5:145720028:G>C,NM_002700.2:c.*21G>C,\N,2/2,\N,Unknown significance,\N,3_prime_UTR_variant,0.064,0.00151469,EXAC_FIN_AF,POU4F3
682973,5:145720030:G>A,NM_002700.2:c.*23G>A,\N,2/2,\N,Unknown significance,\N,3_prime_UTR_variant,0.296,0.0000158927,EXAC_NFE_AF,POU4F3
682974,5:145720031:A>G,NM_002700.2:c.*24A>G,\N,2/2,\N,Unknown significance,\N,3_prime_UTR_variant,0.21,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,POU4F3
682975,5:145720035:G>C,NM_002700.2:c.*28G>C,\N,2/2,\N,Unknown significance,\N,3_prime_UTR_variant,3.752,0.000454959,EXAC_FIN_AF,POU4F3
682976,5:145720035:G>T,NM_002700.2:c.*28G>T,\N,2/2,\N,Unknown significance,\N,3_prime_UTR_variant,4.619,0.0000875503,EXAC_AMR_AF,POU4F3
682977,5:145720036:G>A,NM_002700.2:c.*29G>A,\N,2/2,\N,Unknown significance,\N,3_prime_UTR_variant,4.869,0.000151561,EXAC_FIN_AF,POU4F3
682978,5:145720037:G>A,NM_002700.2:c.*30G>A,\N,2/2,\N,Unknown significance,\N,3_prime_UTR_variant,5.254,0.0000477661,EXAC_NFE_AF,POU4F3
682979,5:145720038:A>G,NM_002700.2:c.*31A>G,\N,2/2,\N,Unknown significance,\N,3_prime_UTR_variant,5.891,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,POU4F3
682980,5:145720042:C>T,NM_002700.2:c.*35C>T,\N,2/2,\N,Unknown significance,\N,3_prime_UTR_variant,7.157,0.0000159576,EXAC_NFE_AF,POU4F3
682981,5:145720043:C>G,NM_002700.2:c.*36C>G,\N,2/2,\N,Unknown significance,\N,3_prime_UTR_variant,5.255,0.000117536,EVS_EA_AF,POU4F3
682982,5:145720044:T>A,NM_002700.2:c.*37T>A,\N,2/2,\N,Unknown significance,\N,3_prime_UTR_variant,4.224,0.0031,1KG_SAS_AF,POU4F3
682983,5:145720045:A>T,NM_002700.2:c.*38A>T,\N,2/2,\N,Unknown significance,\N,3_prime_UTR_variant,0.831,0.0000876732,EXAC_AMR_AF,POU4F3
682984,5:145720055:C>T,NM_002700.2:c.*48C>T,\N,2/2,\N,Unknown significance,\N,3_prime_UTR_variant,0.577,0.000229885,EVS_AA_AF,POU4F3
682985,5:145720072:A>G,NM_002700.2:c.*65A>G,\N,2/2,\N,Unknown significance,\N,3_prime_UTR_variant,0.14,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,POU4F