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
457927,2:179316207:T>G,NM_001042702.3:c.-312T>G,\N,1/7,\N,Unknown significance,\N,5_prime_UTR_variant,7.702,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,DFNB59
457928,2:179316209:T>C,NM_001042702.3:c.-310T>C,\N,1/7,\N,Unknown significance,\N,5_prime_UTR_variant,7.523,\N,\N,DFNB59
457929,2:179316216:G>A,NM_001042702.3:c.-303G>A,\N,1/7,\N,Benign,\N,5_prime_UTR_variant,7.339,0.0272,1KG_AFR_AF,DFNB59
457930,2:179316256:G>A,NM_001042702.3:c.-263G>A,\N,1/7,\N,Benign,\N,5_prime_UTR_variant,6.463,0.0272,1KG_AFR_AF,DFNB59
457931,2:179316266:T>G,NM_001042702.3:c.-253T>G,\N,1/7,\N,Unknown significance,\N,5_prime_UTR_variant,10.65,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,DFNB59
457932,2:179316268:A>G,NM_001042702.3:c.-251A>G,\N,1/7,\N,Unknown significance,\N,5_prime_UTR_variant,10.43,\N,\N,DFNB59
457933,2:179316281:G>T,NM_001042702.3:c.-238G>T,\N,1/7,\N,Unknown significance,\N,5_prime_UTR_variant,8.718,0.001,1KG_SAS_AF,DFNB59
457934,2:179316285:C>A,NM_001042702.3:c.-234C>A,\N,1/7,\N,Unknown significance,\N,5_prime_UTR_variant,8.79,\N,\N,DFNB59
457935,2:179316285:C>T,NM_001042702.3:c.-234C>T,\N,1/7,\N,Benign,\N,5_prime_UTR_variant,8.881,0.0184,1KG_SAS_AF,DFNB59
457936,2:179316318:C>G,NM_001042702.3:c.-201C>G,\N,1/7,\N,Unknown significance,\N,5_prime_UTR_variant,6.464,0.003125,OTO_US_AF,DFNB59
457937,2:179316321:G>T,NM_001042702.3:c.-198G>T,\N,1/7,\N,Unknown significance,\N,5_prime_UTR_variant,8.077,0.001,1KG_EAS_AF,DFNB59
457938,2:179316343:AC>A,NM_001042702.3:c.-172del,\N,1/7,\N,Unknown significance,\N,5_prime_UTR_variant,\N,\N,\N,DFNB59
457939,2:179316343:A>C,NM_001042702.3:c.-176A>C,\N,1/7,\N,Unknown significance,\N,5_prime_UTR_variant,3.749,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,DFNB59
457940,2:179316344:C>T,NM_001042702.3:c.-175C>T,\N,1/7,\N,Unknown significance,\N,5_prime_UTR_variant,9.078,\N,\N,DFNB59
457941,2:179316359:C>T,NM_001042702.3:c.-160C>T,\N,1/7,\N,Unknown significance,\N,5_prime_UTR_variant,9.066,\N,\N,DFNB59
457942,2:179316375:T>G,NM_001042702.3:c.-144T>G,\N,1/7,\N,Unknown significance,\N,5_prime_UTR_variant,6.98,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,DFNB59
457943,2:179316430:A>C,NM_001042702.3:c.-89A>C,\N,1/7,\N,Benign,\N,5_prime_UTR_variant,3.668,0.035,OTO_TR_AF,DFNB59
457944,2:179316435:C>T,NM_001042702.3:c.-84C>T,\N,1/7,\N,Benign,\N,5_prime_UTR_variant,7.629,0.009375,OTO_CO_AF,DFNB59
457945,2:179316442:C>A,NM_001042702.3:c.-77C>A,\N,1/7,\N,Unknown significance,\N,5_prime_UTR_variant,9.99,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,DFNB59
457946,2:179316446:C>T,NM_001042702.3:c.-73C>T,\N,1/7,\N,Benign,\N,5_prime_UTR_variant,10.23,0.0184,1KG_SAS_AF,DFNB59
457947,2:179316472:C>CT,NM_001042702.3:c.-44dup,\N,1/7,\N,Unknown significance,\N,5_prime_UTR_variant,\N,\N,\N,DFNB59
457948,2:179316474:T>A,NM_001042702.3:c.-45T>A,\N,1/7,\N,Benign,\N,5_prime_UTR_variant,8.866,0.0272,1KG_AFR_AF,DFNB59
457949,2:179316487:G>A,NM_001042702.3:c.-32G>A,\N,1/7,\N,Unknown significance,\N,5_prime_UTR_variant,8.766,\N,\N,DFNB59
457950,2:179316491:C>G,NM_001042702.3:c.-28C>G,\N,1/7,\N,Benign,\N,5_prime_UTR_variant,6.423,0.1014,1KG_AFR_AF,DFNB59
457951,2:179316510:A>G,NM_001042702.3:c.-23+14A>G,\N,\N,1/6,Unknown significance,\N,intron_variant,8.459,0.001,1KG_SAS_AF,DFNB59
457952,2:179316544:C>T,NM_001042702.3:c.-23+48C>T,\N,\N,1/6,Unknown significance,\N,intron_variant,9.026,0.001,1KG_EAS_AF,DFNB59
457953,2:179316562:G>C,NM_001042702.3:c.-23+66G>C,\N,\N,1/6,Unknown significance,\N,intron_variant,7.658,\N,\N,DFNB59
457954,2:179316573:G>A,NM_001042702.3:c.-23+77G>A,\N,\N,1/6,Unknown significance,\N,intron_variant,10.96,0.0043,1KG_AMR_AF,DFNB59
457955,2:179316605:A>G,NM_001042702.3:c.-23+109A>G,\N,\N,1/6,Benign,\N,intron_variant,6.883,0.0401,1KG_AFR_AF,DFNB59
457956,2:179316630:G>A,NM_001042702.3:c.-23+134G>A,\N,\N,1/6,Unknown significance,\N,intron_variant,6.391,\N,\N,DFNB59
457957,2:179316635:T>C,NM_001042702.3:c.-23+139T>C,\N,\N,1/6,Unknown significance,\N,intron_variant,5.764,\N,\N,DFNB59
457958,2:179316673:G>A,NM_001042702.3:c.-23+177G>A,\N,\N,1/6,Unknown significance,\N,intron_variant,8.748,\N,\N,DFNB59
457959,2:179316703:A>G,NM_001042702.3:c.-23+207A>G,\N,\N,1/6,Unknown significance,\N,intron_variant,1.154,\N,\N,DFNB59
457960,2:179316723:T>C,NM_001042702.3:c.-23+227T>C,\N,\N,1/6,Benign,\N,intron_variant,2.447,0.0159,1KG_AFR_AF,DFNB59
457961,2:179316804:G>C,NM_001042702.3:c.-23+308G>C,\N,\N,1/6,Benign,\N,intron_variant,0.693,0.0058,1KG_AMR_AF,DFNB59
457962,2:179316830:G>A,NM_001042702.3:c.-23+334G>A,\N,\N,1/6,Unknown significance,\N,intron_variant,4.137,\N,\N,DFNB59
457963,2:179316856:C>T,NM_001042702.3:c.-23+360C>T,\N,\N,1/6,Unknown significance,\N,intron_variant,8.472,\N,\N,DFNB59
457964,2:179316876:C>T,NM_001042702.3:c.-23+380C>T,\N,\N,1/6,Unknown significance,\N,intron_variant,0.332,\N,\N,DFNB59
457965,2:179316889:A>C,NM_001042702.3:c.-23+393A>C,\N,\N,1/6,Unknown significance,\N,intron_variant,0.121,\N,\N,DFNB59
457966,2:179316906:G>C,NM_001042702.3:c.-23+410G>C,\N,\N,1/6,Unknown significance,\N,intron_variant,0.44,0.0031,1KG_SAS_AF,DFNB59
457967,2:179316934:C>T,NM_001042702.3:c.-23+438C>T,\N,\N,1/6,Unknown significance,\N,intron_variant,5.707,\N,\N,DFNB59
457968,2:179316935:G>A,NM_001042702.3:c.-23+439G>A,\N,\N,1/6,Unknown significance,\N,intron_variant,5.165,0.001,1KG_EAS_AF,DFNB59
457969,2:179316950:G>A,NM_001042702.3:c.-23+454G>A,\N,\N,1/6,Unknown significance,\N,intron_variant,3.799,0.0014,1KG_AMR_AF,DFNB59
457970,2:179316975:G>A,NM_001042702.3:c.-23+479G>A,\N,\N,1/6,Unknown significance,\N,intron_variant,1.957,\N,\N,DFNB59
457971,2:179317019:C>CA,NM_001042702.3:c.-23+545dup,\N,\N,1/6,Unknown significance,\N,intron_variant,4.37,\N,\N,DFNB59
457972,2:179317019:CA>C,NM_001042702.3:c.-23+545del,\N,\N,1/6,Unknown significance,\N,intron_variant,\N,\N,\N,DFNB59
457973,2:179317019:CAA>C,NM_001042702.3:c.-23+544_-23+545del,\N,\N,1/6,Unknown significance,\N,intron_variant,5.639,\N,\N,DFNB59
457974,2:179317019:CAAA>C,NM_001042702.3:c.-23+543_-23+545del,\N,\N,1/6,Benign,\N,intron_variant,5.574,0.497,1KG_EAS_AF,DFNB59
457975,2:179317025:A>C,NM_001042702.3:c.-23+529A>C,\N,\N,1/6,Unknown significance,\N,intron_variant,0.305,\N,\N,DFNB59
457976,2:179317039:AAAG>A,NM_001042702.3:c.-23+544_-23+546del,\N,\N,1/6,Unknown significance,\N,intron_variant,\N,\N,\N,DFNB59
457977,2:179317063:A>T,NM_001042702.3:c.-23+567A>T,\N,\N,1/6,Unknown significance,\N,intron_variant,1.64,0.0023,1KG_AFR_AF,DFNB59
457978,2:179317091:G>A,NM_001042702.3:c.-23+595G>A,\N,\N,1/6,Unknown significance,\N,intron_variant,6.365,\N,\N,DFNB59
457979,2:179317103:GAATCT>G,NM_001042702.3:c.-23+612_-23+616del,\N,\N,1/6,Unknown significance,\N,intron_variant,\N,\N,\N,DFNB59
457980,2:179317118:A>G,NM_001042702.3:c.-23+622A>G,\N,\N,1/6,Unknown significance,\N,intron_variant,6.018,\N,\N,DFNB59
457981,2:179317127:G>A,NM_001042702.3:c.-23+631G>A,\N,\N,1/6,Unknown significance,\N,intron_variant,8.419,\N,\N,DFNB59
457982,2:179317128:A>G,NM_001042702.3:c.-23+632A>G,\N,\N,1/6,Unknown significance,\N,intron_variant,8.84,\N,\N,DFNB59
457983,2:179317161:C>G,NM_001042702.3:c.-23+665C>G,\N,\N,1/6,Unknown significance,\N,intron_variant,2.774,\N,\N,DFNB59
457984,2:179317191:A>G,NM_001042702.3:c.-23+695A>G,\N,\N,1/6,Unknown significance,\N,intron_variant,5.515,0.001,1KG_SAS_AF,DFNB59
457985,2:179317194:C>A,NM_001042702.3:c.-23+698C>A,\N,\N,1/6,Unknown significance,\N,intron_variant,6.857,\N,\N,DFNB59
457986,2:179317233:T>C,NM_001042702.3:c.-23+737T>C,\N,\N,1/6,Unknown significance,\N,intron_variant,1.525,\N,\N,DFNB59
457987,2:179317233:TAGTC>T,NM_001042702.3:c.-23+741_-23+744del,\N,\N,1/6,Unknown significance,\N,intron_variant,\N,0.0029,1KG_AMR_AF,DFNB59
457988,2:179317255:G>A,NM_001042702.3:c.-23+759G>A,\N,\N,1/6,Unknown significance,\N,intron_variant,2.393,\N,\N,DFNB59
457989,2:179317261:C>T,NM_001042702.3:c.-23+765C>T,\N,\N,1/6,Benign,\N,intron_variant,2.309,0.0072,1KG_SAS_AF,DFNB59
457990,2:179317264:A>T,NM_001042702.3:c.-23+768A>T,\N,\N,1/6,Unknown significance,\N,intron_variant,0.84,0.001,1KG_SAS_AF,DFNB59
457991,2:179317368:A>G,NM_001042702.3:c.-22-747A>G,\N,\N,1/6,Benign,\N,intron_variant,0.435,0.0184,1KG_SAS_AF,DFNB59
457992,2:179317369:A>T,NM_001042702.3:c.-22-746A>T,\N,\N,1/6,Unknown significance,\N,intron_variant,2.756,\N,\N,DFNB59
457993,2:179317405:A>C,NM_001042702.3:c.-22-710A>C,\N,\N,1/6,Benign,\N,intron_variant,12.1,0.0446,1KG_EAS_AF,DFNB59
457994,2:179317474:T>C,NM_001042702.3:c.-22-641T>C,\N,\N,1/6,Unknown significance,\N,intron_variant,8.587,0.001,1KG_SAS_AF,DFNB59
457995,2:179317513:A>G,NM_001042702.3:c.-22-602A>G,\N,\N,1/6,Unknown significance,\N,intron_variant,2.178,\N,\N,DFNB59
457996,2:179317521:T>C,NM_001042702.3:c.-22-594T>C,\N,\N,1/6,Benign,\N,intron_variant,2.447,0.0184,1KG_SAS_AF,DFNB59
457997,2:179317527:A>G,NM_001042702.3:c.-22-588A>G,\N,\N,1/6,Unknown significance,\N,intron_variant,0.128,0.001,1KG_SAS_AF,DFNB59
457998,2:179317580:C>T,NM_001042702.3:c.-22-535C>T,\N,\N,1/6,Unknown significance,\N,intron_variant,4.389,\N,\N,DFNB59
457999,2:179317645:G>A,NM_001042702.3:c.-22-470G>A,\N,\N,1/6,Unknown significance,\N,intron_variant,6.219,\N,\N,DFNB59
458000,2:179317668:C>G,NM_001042702.3:c.-22-447C>G,\N,\N,1/6,Unknown significance,\N,intron_variant,3.711,\N,\N,DFNB59
458001,2:179317669:G>A,NM_001042702.3:c.-22-446G>A,\N,\N,1/6,Unknown significance,\N,intron_variant,4.345,0.0008,1KG_AFR_AF,DFNB59
458002,2:179317670:G>T,NM_001042702.3:c.-22-445G>T,\N,\N,1/6,Unknown significance,\N,intron_variant,2.729,\N,\N,DFNB59
458003,2:179317675:G>A,NM_001042702.3:c.-22-440G>A,\N,\N,1/6,Unknown significance,\N,intron_variant,9.163,\N,\N,DFNB59
458004,2:179317682:T>C,NM_001042702.3:c.-22-433T>C,\N,\N,1/6,Unknown significance,\N,intron_variant,12.48,0.001,1KG_EAS_AF,DFNB59
458005,2:179317728:A>G,NM_001042702.3:c.-22-387A>G,\N,\N,1/6,Unknown significance,\N,intron_variant,6.401,0.0014,1KG_AMR_AF,DFNB59
458006,2:179317745:A>G,NM_001042702.3:c.-22-370A>G,\N,\N,1/6,Unknown significance,\N,intron_variant,8.558,0.001,1KG_EUR_AF,DFNB59
458007,2:179317756:T>C,NM_001042702.3:c.-22-359T>C,\N,\N,1/6,Unknown significance,\N,intron_variant,5.636,0.001,1KG_EUR_AF,DFNB59
458008,2:179317758:C>A,NM_001042702.3:c.-22-357C>A,\N,\N,1/6,Unknown significance,\N,intron_variant,6.237,0.001,1KG_EUR_AF,DFNB59
458009,2:179317767:C>T,NM_001042702.3:c.-22-348C>T,\N,\N,1/6,Unknown significance,\N,intron_variant,3.796,0.0014,1KG_AMR_AF,DFNB59
458010,2:179317820:G>A,NM_001042702.3:c.-22-295G>A,\N,\N,1/6,Unknown significance,\N,intron_variant,3.862,\N,\N,DFNB59
458011,2:179317829:A>G,NM_001042702.3:c.-22-286A>G,\N,\N,1/6,Unknown significance,\N,intron_variant,6.363,\N,\N,DFNB59
458012,2:179317853:A>G,NM_001042702.3:c.-22-262A>G,\N,\N,1/6,Unknown significance,\N,intron_variant,7.389,0.002,1KG_EAS_AF,DFNB59
458013,2:179317854:C>T,NM_001042702.3:c.-22-261C>T,\N,\N,1/6,Unknown significance,\N,intron_variant,3.594,0.001,1KG_EAS_AF,DFNB59
458014,2:179317900:C>CA,NM_001042702.3:c.-22-213dup,\N,\N,1/6,Unknown significance,\N,intron_variant,\N,\N,\N,DFNB59
458015,2:179317976:A>G,NM_001042702.3:c.-22-139A>G,\N,\N,1/6,Unknown significance,\N,intron_variant,10.72,\N,\N,DFNB59
458016,2:179318060:C>T,NM_001042702.3:c.-22-55C>T,\N,\N,1/6,Benign,\N,intron_variant,17.43,0.0166,1KG_AFR_AF,DFNB59
458017,2:179318069:G>A,NM_001042702.3:c.-22-46G>A,\N,\N,1/6,Unknown significance,\N,intron_variant,15.7,0.0008,1KG_AFR_AF,DFNB59
458018,2:179318075:G>A,NM_001042702.3:c.-22-40G>A,\N,\N,1/6,Unknown significance,\N,intron_variant,15.71,\N,\N,DFNB59
458019,2:179318092:A>G,NM_001042702.3:c.-22-23A>G,\N,\N,1/6,Unknown significance,\N,intron_variant,21.7,0.0008,1KG_AFR_AF,DFNB59
458020,2:179318100:A>T,NM_001042702.3:c.-22-15A>T,\N,\N,1/6,Unknown significance,\N,intron_variant,17.67,\N,\N,DFNB59
458021,2:179318109:T>A,NM_001042702.3:c.-22-6T>A,\N,\N,1/6,Benign,\N,splice_region_variant&intron_variant,12.95,0.0375,OTO_JP_AF,DFNB59
458022,2:179318115:T>C,NM_001042702.3:c.-22T>C,\N,2/7,\N,Unknown significance,\N,splice_region_variant&5_prime_UTR_variant,11.63,0.000173762,EXAC_AMR_AF,DFNB59
458023,2:179318122:C>T,NM_001042702.3:c.-15C>T,\N,2/7,\N,Unknown significance,\N,5_prime_UTR_variant,18.52,0.000122549,EVS_EA_AF,DFNB59
458024,2:179318133:T>C,NM_001042702.3:c.-4T>C,\N,2/7,\N,Unknown significance,\N,5_prime_UTR_variant,20.3,0.0000150734,EXAC_NFE_AF,DFNB59
458025,2:179318135:A>G,NM_001042702.3:c.-2A>G,\N,2/7,\N,Unknown significance,\N,5_prime_UTR_variant,21.8,\N,\N,DFNB59
458026,2:179318146:G>A,NM_001042702.3:c.10G>A,NP_001036167.1:p.Ala4Thr,2/7,\N,Unknown significance,\N,missense_variant,25.5,0.0025,OTO_JP_AF,DFNB59
458027,2:179318146:G>T,NM_001042702.3:c.10G>T,NP_001036167.1:p.Ala4Ser,2/7,\N,Unknown significance,\N,missense_variant,24.6,0.0000150403,EXAC_NFE_AF,DFNB59
458028,2:179318166:C>G,NM_001042702.3:c.30C>G,NP_001036167.1:p.Val10=,2/7,\N,Unknown significance,\N,synonymous_variant,10.18,0.0000150137,EXAC_NFE_AF,DFNB59
458029,2:179318172:A>G,NM_001042702.3:c.36A>G,NP_001036167.1:p.Gln12=,2/7,\N,Unknown significance,\N,synonymous_variant,2.201,0.0000150056,EXAC_NFE_AF,DFNB59
458030,2:179318174:T>C,NM_001042702.3:c.38T>C,NP_001036167.1:p.Val13Ala,2/7,\N,Unknown significance,\N,missense_variant,26,0.000115929,EXAC_EAS_AF,DFNB59
458031,2:179318183:G>A,NM_001042702.3:c.47G>A,NP_001036167.1:p.Gly16Glu,2/7,\N,Unknown significance,\N,missense_variant,24.1,0.0000149988,EXAC_NFE_AF,DFNB59
458032,2:179318183:G>T,NM_001042702.3:c.47G>T,NP_001036167.1:p.Gly16Val,2/7,\N,Unknown significance,\N,missense_variant,26.7,0.0000149988,EXAC_NFE_AF,DFNB59
458033,2:179318189:G>T,NM_001042702.3:c.53G>T,NP_001036167.1:p.Arg18Ile,2/7,\N,Unknown significance,\N,missense_variant,24.6,0.000102229,EXAC_AFR_AF,DFNB59
458034,2:179318199:T>C,NM_001042702.3:c.63T>C,NP_001036167.1:p.Pro21=,2/7,\N,Unknown significance,\N,synonymous_variant,4.192,0.0008,1KG_AFR_AF,DFNB59
458035,2:179318204:C>A,NM_001042702.3:c.68C>A,NP_001036167.1:p.Pro23Gln,2/7,\N,Unknown significance,\N,missense_variant,27.9,0.000060562,EXAC_SAS_AF,DFNB59
458036,2:179318205:A>G,NM_001042702.3:c.69A>G,NP_001036167.1:p.Pro23=,2/7,\N,Unknown significance,\N,synonymous_variant,4.834,0.0000864304,EXAC_AMR_AF,DFNB59
458037,2:179318217:A>C,NM_001042702.3:c.81A>C,NP_001036167.1:p.Glu27Asp,2/7,\N,Unknown significance,\N,missense_variant,17.26,0.0000605694,EXAC_SAS_AF,DFNB59
458038,2:179318220:T>C,NM_001042702.3:c.84T>C,NP_001036167.1:p.Ala28=,2/7,\N,Unknown significance,\N,synonymous_variant,5.64,0.000115929,EXAC_EAS_AF,DFNB59
458039,2:179318222:A>G,NM_001042702.3:c.86A>G,NP_001036167.1:p.Asp29Gly,2/7,\N,Benign,\N,missense_variant,28.4,0.025,OTO_AJ_AF,DFNB59
458040,2:179318223:C>A,NM_001042702.3:c.87C>A,NP_001036167.1:p.Asp29Glu,2/7,\N,Unknown significance,\N,missense_variant,27.8,0.00296177,EVS_AA_AF,DFNB59
458041,2:179318225:A>G,NM_001042702.3:c.89A>G,NP_001036167.1:p.Lys30Arg,2/7,\N,Unknown significance,\N,missense_variant,12.94,0.000074967,EXAC_NFE_AF,DFNB59
458042,2:179318229:T>C,NM_001042702.3:c.93T>C,NP_001036167.1:p.Tyr31=,2/7,\N,Unknown significance,\N,synonymous_variant,0.175,0.0000149934,EXAC_NFE_AF,DFNB59
458043,2:179318232:A>G,NM_001042702.3:c.96A>G,NP_001036167.1:p.Gln32=,2/7,\N,Unknown significance,\N,synonymous_variant,12.46,\N,\N,DFNB59
458044,2:179318240:G>T,NM_001042702.3:c.104G>T,NP_001036167.1:p.Ser35Ile,2/7,\N,Unknown significance,\N,missense_variant,29.7,0.0000150006,EXAC_NFE_AF,DFNB59
458045,2:179318248:G>A,NM_001042702.3:c.112G>A,NP_001036167.1:p.Val38Ile,2/7,\N,Unknown significance,\N,missense_variant,18.28,0.0000606502,EXAC_SAS_AF,DFNB59
458046,2:179318248:G>GT,NM_001042702.3:c.113dup,NP_001036167.1:p.Lys41GlufsTer8,2/7,\N,Pathogenic,Progressive hearing loss| autosomal recessive,frameshift_variant,32,\N,\N,DFNB59
458047,2:179318256:GA>G,NM_001042702.3:c.122del,NP_001036167.1:p.Lys41SerfsTer18,2/7,\N,Pathogenic,Progressive hearing loss,frameshift_variant,31,\N,\N,DFNB59
458048,2:179318260:C>T,NM_001042702.3:c.124C>T,NP_001036167.1:p.Arg42Ter,2/7,\N,Unknown significance,\N,stop_gained,36,0.0000150485,EXAC_NFE_AF,DFNB59
458049,2:179318261:G>A,NM_001042702.3:c.125G>A,NP_001036167.1:p.Arg42Gln,2/7,\N,Unknown significance,\N,missense_variant,23.8,0.0000150666,EXAC_NFE_AF,DFNB59
458050,2:179318261:G>C,NM_001042702.3:c.125G>C,NP_001036167.1:p.Arg42Pro,2/7,\N,Unknown significance,\N,missense_variant,25.9,0.000121699,EXAC_SAS_AF,DFNB59
458051,2:179318271:G>C,NM_001042702.3:c.135G>C,NP_001036167.1:p.Leu45=,2/7,\N,Unknown significance,\N,synonymous_variant,9.467,0.000309215,EXAC_AFR_AF,DFNB59
458052,2:179318276:C>G,NM_001042702.3:c.140C>G,NP_001036167.1:p.Pro47Arg,2/7,\N,Unknown significance,\N,missense_variant,12.38,0.0000304488,EXAC_NFE_AF,DFNB59
458053,2:179318281:T>C,NM_001042702.3:c.145T>C,NP_001036167.1:p.Tyr49His,2/7,\N,Likely benign,\N,missense_variant,12.14,0.0000614704,EXAC_SAS_AF,DFNB59
458054,2:179318283:T>C,NM_001042702.3:c.147T>C,NP_001036167.1:p.Tyr49=,2/7,\N,Unknown significance,\N,synonymous_variant,0.255,\N,\N,DFNB59
458055,2:179318294:C>T,NM_001042702.3:c.158C>T,NP_001036167.1:p.Ser53Leu,2/7,\N,Unknown significance,\N,missense_variant,26.3,0.001,1KG_EAS_AF,DFNB59
458056,2:179318297:C>T,NM_001042702.3:c.161C>T,NP_001036167.1:p.Thr54Ile,2/7,\N,Pathogenic,Auditory neuropathy,missense_variant,29,\N,\N,DFNB59
458057,2:179318299:C>A,NM_001042702.3:c.163C>A,NP_001036167.1:p.Pro55Thr,2/7,\N,Unknown significance,\N,missense_variant,27,\N,\N,DFNB59
458058,2:179318311:A>G,NM_001042702.3:c.175A>G,NP_001036167.1:p.Lys59Glu,2/7,\N,Unknown significance,\N,missense_variant,22.2,0.000128916,EXAC_SAS_AF,DFNB59
458059,2:179318320:C>A,NM_001042702.3:c.184C>A,NP_001036167.1:p.Leu62Ile,2/7,\N,Unknown significance,\N,missense_variant,29.8,0.000129668,EXAC_EAS_AF,DFNB59
458060,2:179318329:G>A,NM_001042702.3:c.193G>A,NP_001036167.1:p.Asp65Asn,2/7,\N,Unknown significance,\N,missense_variant,25.4,0.000317662,EXAC_AMR_AF,DFNB59
458061,2:179318331:C>G,NM_001042702.3:c.195C>G,NP_001036167.1:p.Asp65Glu,2/7,\N,Likely benign,\N,missense_variant,14.16,\N,\N,DFNB59
458062,2:179318348:G>T,NM_001042702.3:c.211+1G>T,\N,\N,2/6,Pathogenic,Hearing loss| non-syndromic| autosomal recessive,splice_donor_variant,26.4,\N,\N,DFNB59
458063,2:179318356:A>C,NM_001042702.3:c.211+9A>C,\N,\N,2/6,Unknown significance,\N,intron_variant,17.66,0.0000672013,EXAC_NFE_AF,DFNB59
458064,2:179318368:G>T,NM_001042702.3:c.211+21G>T,\N,\N,2/6,Unknown significance,\N,intron_variant,10.49,\N,\N,DFNB59
458065,2:179318374:A>G,NM_001042702.3:c.211+27A>G,\N,\N,2/6,Unknown significance,\N,intron_variant,7.749,0.0000263006,EXAC_NFE_AF,DFNB59
458066,2:179318378:A>G,NM_001042702.3:c.211+31A>G,\N,\N,2/6,Unknown significance,\N,intron_variant,5.85,0.0000283704,EXAC_NFE_AF,DFNB59
458067,2:179318384:C>A,NM_001042702.3:c.211+37C>A,\N,\N,2/6,Unknown significance,\N,intron_variant,5,0.000195771,EXAC_AMR_AF,DFNB59
458068,2:179318385:T>G,NM_001042702.3:c.211+38T>G,\N,\N,2/6,Benign,\N,intron_variant,3.718,0.00555556,OTO_ES_AF,DFNB59
458069,2:179318386:G>A,NM_001042702.3:c.211+39G>A,\N,\N,2/6,Benign,\N,intron_variant,6.048,0.0195554,EXAC_SAS_AF,DFNB59
458070,2:179318387:T>C,NM_001042702.3:c.211+40T>C,\N,\N,2/6,Unknown significance,\N,intron_variant,6.284,0.0000303711,EXAC_NFE_AF,DFNB59
458071,2:179318398:A>G,NM_001042702.3:c.211+51A>G,\N,\N,2/6,Unknown significance,\N,intron_variant,4.108,\N,\N,DFNB59
458072,2:179318404:A>C,NM_001042702.3:c.211+57A>C,\N,\N,2/6,Unknown significance,\N,intron_variant,1.598,\N,\N,DFNB59
458073,2:179318427:T>A,NM_001042702.3:c.211+80T>A,\N,\N,2/6,Unknown significance,\N,intron_variant,3.906,0.001,1KG_EUR_AF,DFNB59
458074,2:179318457:G>T,NM_001042702.3:c.211+110G>T,\N,\N,2/6,Unknown significance,\N,intron_variant,10.61,\N,\N,DFNB59
458075,2:179318470:T>C,NM_001042702.3:c.211+123T>C,\N,\N,2/6,Unknown significance,\N,intron_variant,2.67,\N,\N,DFNB59
458076,2:179318484:T>C,NM_001042702.3:c.211+137T>C,\N,\N,2/6,Unknown significance,\N,intron_variant,3.107,0.001,1KG_EAS_AF,DFNB59
458077,2:179318501:A>G,NM_001042702.3:c.211+154A>G,\N,\N,2/6,Unknown significance,\N,intron_variant,2.445,\N,\N,DFNB59
458078,2:179318516:T>G,NM_001042702.3:c.211+169T>G,\N,\N,2/6,Unknown significance,\N,intron_variant,4.859,\N,\N,DFNB59
458079,2:179318539:G>A,NM_001042702.3:c.211+192G>A,\N,\N,2/6,Unknown significance,\N,intron_variant,4.712,0.0008,1KG_AFR_AF,DFNB59
458080,2:179318540:G>A,NM_001042702.3:c.211+193G>A,\N,\N,2/6,Benign,\N,intron_variant,3.649,0.0184,1KG_SAS_AF,DFNB59
458081,2:179318553:C>T,NM_001042702.3:c.211+206C>T,\N,\N,2/6,Unknown significance,\N,intron_variant,3.572,\N,\N,DFNB59
458082,2:179318554:A>G,NM_001042702.3:c.211+207A>G,\N,\N,2/6,Unknown significance,\N,intron_variant,2.94,0.001,1KG_EAS_AF,DFNB59
458083,2:179318587:C>G,NM_001042702.3:c.211+240C>G,\N,\N,2/6,Unknown significance,\N,intron_variant,3.561,\N,\N,DFNB59
458084,2:179318598:A>C,NM_001042702.3:c.211+251A>C,\N,\N,2/6,Unknown significance,\N,intron_variant,3.416,0.001,1KG_SAS_AF,DFNB59
458085,2:179318601:A>G,NM_001042702.3:c.211+254A>G,\N,\N,2/6,Unknown significance,\N,intron_variant,0.328,\N,\N,DFNB59
458086,2:179318610:ATTTC>A,NM_001042702.3:c.211+266_211+269del,\N,\N,2/6,Unknown significance,\N,intron_variant,\N,\N,\N,DFNB59
458087,2:179318619:T>A,NM_001042702.3:c.211+272T>A,\N,\N,2/6,Unknown significance,\N,intron_variant,15.35,\N,\N,DFNB59
458088,2:179318619:T>C,NM_001042702.3:c.211+272T>C,\N,\N,2/6,Unknown significance,\N,intron_variant,13.47,\N,\N,DFNB59
458089,2:179318630:G>A,NM_001042702.3:c.211+283G>A,\N,\N,2/6,Unknown significance,\N,intron_variant,9.346,0.0008,1KG_AFR_AF,DFNB59
458090,2:179318643:G>T,NM_001042702.3:c.211+296G>T,\N,\N,2/6,Unknown significance,\N,intron_variant,10.33,\N,\N,DFNB59
458091,2:179318650:T>C,NM_001042702.3:c.211+303T>C,\N,\N,2/6,Unknown significance,\N,intron_variant,4.813,0.004,1KG_EUR_AF,DFNB59
458092,2:179318653:G>A,NM_001042702.3:c.211+306G>A,\N,\N,2/6,Unknown significance,\N,intron_variant,3.204,0.001,1KG_EUR_AF,DFNB59
458093,2:179318670:G>T,NM_001042702.3:c.211+323G>T,\N,\N,2/6,Unknown significance,\N,intron_variant,6.872,\N,\N,DFNB59
458094,2:179318686:A>T,NM_001042702.3:c.211+339A>T,\N,\N,2/6,Unknown significance,\N,intron_variant,10.38,0.002,1KG_EAS_AF,DFNB59
458095,2:179318703:C>T,NM_001042702.3:c.211+356C>T,\N,\N,2/6,Unknown significance,\N,intron_variant,5.983,0.002,1KG_EUR_AF,DFNB59
458096,2:179318705:A>G,NM_001042702.3:c.212-354A>G,\N,\N,2/6,Unknown significance,\N,intron_variant,3.339,0.0008,1KG_AFR_AF,DFNB59
458097,2:179318739:G>C,NM_001042702.3:c.212-320G>C,\N,\N,2/6,Unknown significance,\N,intron_variant,1.039,0.002,1KG_SAS_AF,DFNB59
458098,2:179318751:A>T,NM_001042702.3:c.212-308A>T,\N,\N,2/6,Unknown significance,\N,intron_variant,1.651,0.0029,1KG_AMR_AF,DFNB59
458099,2:179318787:C>T,NM_001042702.3:c.212-272C>T,\N,\N,2/6,Benign,\N,intron_variant,11.37,0.0159,1KG_AFR_AF,DFNB59
458100,2:179318811:C>T,NM_001042702.3:c.212-248C>T,\N,\N,2/6,Unknown significance,\N,intron_variant,1.902,0.0008,1KG_AFR_AF,DFNB59
458101,2:179318812:G>T,NM_001042702.3:c.212-247G>T,\N,\N,2/6,Benign,\N,intron_variant,1.717,0.008,1KG_EUR_AF,DFNB59
458102,2:179318823:A>G,NM_001042702.3:c.212-236A>G,\N,\N,2/6,Unknown significance,\N,intron_variant,3.397,\N,\N,DFNB59
458103,2:179318827:T>C,NM_001042702.3:c.212-232T>C,\N,\N,2/6,Unknown significance,\N,intron_variant,3.096,\N,\N,DFNB59
458104,2:179318842:G>A,NM_001042702.3:c.212-217G>A,\N,\N,2/6,Unknown significance,\N,intron_variant,4.562,0.001,1KG_SAS_AF,DFNB59
458105,2:179318913:A>G,NM_001042702.3:c.212-146A>G,\N,\N,2/6,Unknown significance,\N,intron_variant,5.634,\N,\N,DFNB59
458106,2:179318933:GT>G,NM_001042702.3:c.212-125del,\N,\N,2/6,Benign,\N,intron_variant,2.227,0.0184,1KG_SAS_AF,DFNB59
458107,2:179318940:A>C,NM_001042702.3:c.212-119A>C,\N,\N,2/6,Unknown significance,\N,intron_variant,5.963,\N,\N,DFNB59
458108,2:179318993:A>T,NM_001042702.3:c.212-66A>T,\N,\N,2/6,Unknown significance,\N,intron_variant,0.244,0.001,1KG_EAS_AF,DFNB59
458109,2:179319012:A>G,NM_001042702.3:c.212-47A>G,\N,\N,2/6,Unknown significance,\N,intron_variant,5.655,0.001,1KG_EAS_AF,DFNB59
458110,2:179319024:G>T,NM_001042702.3:c.212-35G>T,\N,\N,2/6,Unknown significance,\N,intron_variant,10.45,0.00013885,EXAC_EAS_AF,DFNB59
458111,2:179319026:T>G,NM_001042702.3:c.212-33T>G,\N,\N,2/6,Unknown significance,\N,intron_variant,10.5,0.000124162,EXAC_AFR_AF,DFNB59
458112,2:179319031:A>T,NM_001042702.3:c.212-28A>T,\N,\N,2/6,Unknown significance,\N,intron_variant,0.584,0.00124378,EXAC_OTH_AF,DFNB59
458113,2:179319047:C>A,NM_001042702.3:c.212-12C>A,\N,\N,2/6,Unknown significance,\N,intron_variant,8.818,0.000122971,EVS_EA_AF,DFNB59
458114,2:179319053:A>G,NM_001042702.3:c.212-6A>G,\N,\N,2/6,Unknown significance,\N,splice_region_variant&intron_variant,8.208,0.0000152393,EXAC_NFE_AF,DFNB59
458115,2:179319054:T>A,NM_001042702.3:c.212-5T>A,\N,\N,2/6,Unknown significance,\N,splice_region_variant&intron_variant,10.5,0.0008,1KG_AFR_AF,DFNB59
458116,2:179319063:T>C,NM_001042702.3:c.216T>C,NP_001036167.1:p.Ile72=,3/7,\N,Unknown significance,\N,synonymous_variant,8.738,0.000347705,EXAC_AMR_AF,DFNB59
458117,2:179319096:A>G,NM_001042702.3:c.249A>G,NP_001036167.1:p.Glu83=,3/7,\N,Unknown significance,\N,synonymous_variant,10.14,\N,\N,DFNB59
458118,2:179319097:T>A,NM_001042702.3:c.250T>A,NP_001036167.1:p.Ser84Thr,3/7,\N,Unknown significance,\N,missense_variant,24.4,0.00429887,EXAC_AFR_AF,DFNB59
458119,2:179319103:G>A,NM_001042702.3:c.256G>A,NP_001036167.1:p.Val86Ile,3/7,\N,Unknown significance,\N,missense_variant,17.08,0.000151286,EXAC_FIN_AF,DFNB59
458120,2:179319112:T>C,NM_001042702.3:c.265T>C,NP_001036167.1:p.Tyr89His,3/7,\N,Likely benign,\N,missense_variant,19.48,0.0000149925,EXAC_NFE_AF,DFNB59
458121,2:179319113:A>G,NM_001042702.3:c.266A>G,NP_001036167.1:p.Tyr89Cys,3/7,\N,Unknown significance,\N,missense_variant,22.5,0.0000149912,EXAC_NFE_AF,DFNB59
458122,2:179319120:G>T,NM_001042702.3:c.273G>T,NP_001036167.1:p.Arg91Ser,3/7,\N,Unknown significance,\N,missense_variant,23.4,0.000121892,EVS_EA_AF,DFNB59
458123,2:179319121:C>T,NM_001042702.3:c.274C>T,NP_001036167.1:p.Arg92Ter,3/7,\N,Pathogenic,Hearing loss| non-syndromic,stop_gained,37,0.0000605987,EXAC_SAS_AF,DFNB59
458124,2:179319122:G>A,NM_001042702.3:c.275G>A,NP_001036167.1:p.Arg92Gln,3/7,\N,Unknown significance,\N,missense_variant,25.8,0.000121803,EVS_EA_AF,DFNB59
458125,2:179319132:T>C,NM_001042702.3:c.285T>C,NP_001036167.1:p.His95=,3/7,\N,Unknown significance,\N,synonymous_variant,3.211,0.000532481,EVS_AA_AF,DFNB59
458126,2:179319135:T>A,NM_001042702.3:c.288T>A,NP_001036167.1:p.Ile96=,3/7,\N,Unknown significance,\N,synonymous_variant,14.94,0.00024325,EVS_EA_AF,DFNB59
458127,2:179319141:T>C,NM_001042702.3:c.294T>C,NP_001036167.1:p.Asn98=,3/7,\N,Unknown significance,\N,synonymous_variant,6.321,0.000102354,EXAC_AFR_AF,DFNB59
458128,2:179319143:A>G,NM_001042702.3:c.296A>G,NP_001036167.1:p.Asp99Gly,3/7,\N,Unknown significance,\N,missense_variant,22.7,0.000102375,EXAC_AFR_AF,DFNB59
458129,2:179319144:C>T,NM_001042702.3:c.297C>T,NP_001036167.1:p.Asp99=,3/7,\N,Unknown significance,\N,synonymous_variant,15.51,0.00026441,EVS_AA_AF,DFNB59
458130,2:179319145:G>A,NM_001042702.3:c.298G>A,NP_001036167.1:p.Val100Ile,3/7,\N,Unknown significance,\N,missense_variant,25.7,0.000432302,EXAC_AMR_AF,DFNB59
458131,2:179319146:T>C,NM_001042702.3:c.299T>C,NP_001036167.1:p.Val100Ala,3/7,\N,Unknown significance,\N,missense_variant,17.27,0.001,1KG_EUR_AF,DFNB59
458132,2:179319157:G>A,NM_001042702.3:c.310G>A,NP_001036167.1:p.Val104Ile,3/7,\N,Likely benign,\N,missense_variant,5.837,0.0000606281,EXAC_SAS_AF,DFNB59
458133,2:179319160:G>A,NM_001042702.3:c.313G>A,NP_001036167.1:p.Ala105Thr,3/7,\N,Likely benign,\N,missense_variant,2.247,\N,\N,DFNB59
458134,2:179319175:A>G,NM_001042702.3:c.328A>G,NP_001036167.1:p.Ile110Val,3/7,\N,Likely benign,\N,missense_variant,1.082,0.0000150132,EXAC_NFE_AF,DFNB59
458135,2:179319178:G>T,NM_001042702.3:c.331G>T,NP_001036167.1:p.Ala111Ser,3/7,\N,Unknown significance,\N,missense_variant,24.2,0.0000150195,EXAC_NFE_AF,DFNB59
458136,2:179319182:T>C,NM_001042702.3:c.335T>C,NP_001036167.1:p.Val112Ala,3/7,\N,Unknown significance,\N,missense_variant,23.9,0.000121389,EVS_EA_AF,DFNB59
458137,2:179319183:G>A,NM_001042702.3:c.336G>A,NP_001036167.1:p.Val112=,3/7,\N,Unknown significance,\N,synonymous_variant,11.13,0.001,1KG_EUR_AF,DFNB59
458138,2:179319187:G>T,NM_001042702.3:c.340G>T,NP_001036167.1:p.Ala114Ser,3/7,\N,Unknown significance,\N,missense_variant,23.3,0.001,1KG_SAS_AF,DFNB59
458139,2:179319196:G>C,NM_001042702.3:c.349G>C,NP_001036167.1:p.Gly117Arg,3/7,\N,Unknown significance,\N,missense_variant,29.7,0.0008,1KG_AFR_AF,DFNB59
458140,2:179319205:A>G,NM_001042702.3:c.358A>G,NP_001036167.1:p.Thr120Ala,3/7,\N,Unknown significance,\N,missense_variant,24.5,0.0000150921,EXAC_NFE_AF,DFNB59
458141,2:179319206:C>T,NM_001042702.3:c.359C>T,NP_001036167.1:p.Thr120Ile,3/7,\N,Unknown significance,\N,missense_variant,26.3,0.0000611322,EXAC_SAS_AF,DFNB59
458142,2:179319211:C>T,NM_001042702.3:c.364C>T,NP_001036167.1:p.His122Tyr,3/7,\N,Unknown significance,\N,missense_variant,27.9,0.0000151345,EXAC_NFE_AF,DFNB59
458143,2:179319215:A>G,NM_001042702.3:c.368A>G,NP_001036167.1:p.Glu123Gly,3/7,\N,Unknown significance,\N,missense_variant,32,0.0008,1KG_AFR_AF,DFNB59
458144,2:179319218:T>G,NM_001042702.3:c.371T>G,NP_001036167.1:p.Val124Gly,3/7,\N,Unknown significance,\N,missense_variant,28,\N,\N,DFNB59
458145,2:179319223:G>GT,NM_001042702.3:c.377dup,NP_001036167.1:p.Ser127IlefsTer13,3/7,\N,Unknown significance,\N,frameshift_variant,34,0.0000881213,EXAC_AMR_AF,DFNB59
458146,2:179319230:C>G,NM_001042702.3:c.383C>G,NP_001036167.1:p.Thr128Arg,3/7,\N,Unknown significance,\N,missense_variant,24.2,0.0000154823,EXAC_NFE_AF,DFNB59
458147,2:179319231:A>G,NM_001042702.3:c.384A>G,NP_001036167.1:p.Thr128=,3/7,\N,Unknown significance,\N,synonymous_variant,6.638,0.00015328,EXAC_FIN_AF,DFNB59
458148,2:179319244:A>G,NM_001042702.3:c.397A>G,NP_001036167.1:p.Ile133Val,3/7,\N,Unknown significance,\N,missense_variant,6.534,0.0000161332,EXAC_NFE_AF,DFNB59
458149,2:179319252:A>C,NM_001042702.3:c.405A>C,NP_001036167.1:p.Thr135=,3/7,\N,Likely benign,\N,splice_region_variant&synonymous_variant,10.48,0.00012219,EVS_EA_AF,DFNB59
458150,2:179319253:C>T,NM_001042702.3:c.406C>T,NP_001036167.1:p.Arg136Ter,3/7,\N,Pathogenic,Hearing loss| non-syndromic,stop_gained&splice_region_variant,39,0.000270856,EVS_AA_AF,DFNB59
458151,2:179319254:G>A,NM_001042702.3:c.407G>A,NP_001036167.1:p.Arg136Gln,3/7,\N,Unknown significance,\N,missense_variant&splice_region_variant,34,0.0000172224,EXAC_NFE_AF,DFNB59
458152,2:179319257:C>G,NM_001042702.3:c.407+3C>G,\N,\N,3/6,Unknown significance,\N,splice_region_variant&intron_variant,12.46,0.000017605,EXAC_NFE_AF,DFNB59
458153,2:179319261:ATAAT>A,NM_001042702.3:c.407+8_407+11del,\N,\N,3/6,Unknown significance,\N,splice_region_variant&intron_variant,16.74,\N,\N,DFNB59
458154,2:179319269:C>G,NM_001042702.3:c.407+15C>G,\N,\N,3/6,Likely benign,\N,intron_variant,8.641,0.00183202,EXAC_EAS_AF,DFNB59
458155,2:179319276:T>C,NM_001042702.3:c.407+22T>C,\N,\N,3/6,Unknown significance,\N,intron_variant,3.224,0.0000202955,EXAC_NFE_AF,DFNB59
458156,2:179319277:A>C,NM_001042702.3:c.407+23A>C,\N,\N,3/6,Unknown significance,\N,intron_variant,1.198,0.000138947,EXAC_SAS_AF,DFNB59
458157,2:179319278:T>C,NM_001042702.3:c.407+24T>C,\N,\N,3/6,Unknown significance,\N,intron_variant,2.279,0.000111309,EXAC_AMR_AF,DFNB59
458158,2:179319302:TA>T,NM_001042702.3:c.407+49del,\N,\N,3/6,Unknown significance,\N,intron_variant,8.804,0.00021106,EXAC_FIN_AF,DFNB59
458159,2:179319323:A>G,NM_001042702.3:c.407+69A>G,\N,\N,3/6,Unknown significance,\N,intron_variant,17,\N,\N,DFNB59
458160,2:179319343:AG>A,NM_001042702.3:c.407+91del,\N,\N,3/6,Unknown significance,\N,intron_variant,\N,\N,\N,DFNB59
458161,2:179319348:G>A,NM_001042702.3:c.407+94G>A,\N,\N,3/6,Unknown significance,\N,intron_variant,15.18,\N,\N,DFNB59
458162,2:179319362:T>C,NM_001042702.3:c.407+108T>C,\N,\N,3/6,Unknown significance,\N,intron_variant,12.88,0.00144509,EVS_AA_AF,DFNB59
458163,2:179319371:A>G,NM_001042702.3:c.407+117A>G,\N,\N,3/6,Unknown significance,\N,intron_variant,6.039,0.0008,1KG_AFR_AF,DFNB59
458164,2:179319389:T>C,NM_001042702.3:c.407+135T>C,\N,\N,3/6,Unknown significance,\N,intron_variant,2.795,0.001,1KG_EUR_AF,DFNB59
458165,2:179319391:G>A,NM_001042702.3:c.407+137G>A,\N,\N,3/6,Benign,\N,intron_variant,3.607,0.6548,1KG_EAS_AF,DFNB59
458166,2:179319395:G>A,NM_001042702.3:c.407+141G>A,\N,\N,3/6,Unknown significance,\N,intron_variant,2.167,\N,\N,DFNB59
458167,2:179319401:C>A,NM_001042702.3:c.407+147C>A,\N,\N,3/6,Unknown significance,\N,intron_variant,3.602,\N,\N,DFNB59
458168,2:179319401:C>T,NM_001042702.3:c.407+147C>T,\N,\N,3/6,Unknown significance,\N,intron_variant,2.359,\N,\N,DFNB59
458169,2:179319402:C>G,NM_001042702.3:c.407+148C>G,\N,\N,3/6,Benign,\N,intron_variant,2.66,0.0097423,EVS_EA_AF,DFNB59
458170,2:179319425:T>C,NM_001042702.3:c.407+171T>C,\N,\N,3/6,Unknown significance,\N,intron_variant,2.725,0.001,1KG_EUR_AF,DFNB59
458171,2:179319426:C>T,NM_001042702.3:c.407+172C>T,\N,\N,3/6,Benign,\N,intron_variant,4.226,0.0050578,EVS_AA_AF,DFNB59
458172,2:179319433:C>G,NM_001042702.3:c.407+179C>G,\N,\N,3/6,Unknown significance,\N,intron_variant,1.649,0.002,1KG_SAS_AF,DFNB59
458173,2:179319434:A>G,NM_001042702.3:c.407+180A>G,\N,\N,3/6,Unknown significance,\N,intron_variant,3.724,0.000722543,EVS_AA_AF,DFNB59
458174,2:179319454:C>T,NM_001042702.3:c.407+200C>T,\N,\N,3/6,Unknown significance,\N,intron_variant,8.853,\N,\N,DFNB59
458175,2:179319457:A>G,NM_001042702.3:c.407+203A>G,\N,\N,3/6,Unknown significance,\N,intron_variant,8.099,0.001,1KG_EUR_AF,DFNB59
458176,2:179319466:G>C,NM_001042702.3:c.407+212G>C,\N,\N,3/6,Unknown significance,\N,intron_variant,7.506,\N,\N,DFNB59
458177,2:179319475:G>A,NM_001042702.3:c.407+221G>A,\N,\N,3/6,Unknown significance,\N,intron_variant,7.818,0.0014,1KG_AMR_AF,DFNB59
458178,2:179319513:T>A,NM_001042702.3:c.407+259T>A,\N,\N,3/6,Unknown significance,\N,intron_variant,8.113,\N,\N,DFNB59
458179,2:179319516:A>T,NM_001042702.3:c.407+262A>T,\N,\N,3/6,Unknown significance,\N,intron_variant,5.614,0.0015,1KG_AFR_AF,DFNB59
458180,2:179319531:C>T,NM_001042702.3:c.407+277C>T,\N,\N,3/6,Benign,\N,intron_variant,8.252,0.0382948,EVS_AA_AF,DFNB59
458181,2:179319555:A>G,NM_001042702.3:c.407+301A>G,\N,\N,3/6,Unknown significance,\N,intron_variant,6.348,0.001,1KG_EAS_AF,DFNB59
458182,2:179319573:C>T,NM_001042702.3:c.407+319C>T,\N,\N,3/6,Unknown significance,\N,intron_variant,8.195,0.00289017,EVS_AA_AF,DFNB59
458183,2:179319575:C>G,NM_001042702.3:c.407+321C>G,\N,\N,3/6,Unknown significance,\N,intron_variant,6.173,\N,\N,DFNB59
458184,2:179319590:A>T,NM_001042702.3:c.407+336A>T,\N,\N,3/6,Unknown significance,\N,intron_variant,3.654,0.000314268,EVS_EA_AF,DFNB59
458185,2:179319616:T>C,NM_001042702.3:c.407+362T>C,\N,\N,3/6,Unknown significance,\N,intron_variant,5.786,\N,\N,DFNB59
458186,2:179319677:C>T,NM_001042702.3:c.407+423C>T,\N,\N,3/6,Benign,\N,intron_variant,7.236,0.115651,EVS_EA_AF,DFNB59
458187,2:179319678:G>A,NM_001042702.3:c.407+424G>A,\N,\N,3/6,Benign,\N,intron_variant,1.954,0.0238439,EVS_AA_AF,DFNB59
458188,2:179319705:A>G,NM_001042702.3:c.407+451A>G,\N,\N,3/6,Unknown significance,\N,intron_variant,3.781,0.002,1KG_SAS_AF,DFNB59
458189,2:179319706:C>T,NM_001042702.3:c.407+452C>T,\N,\N,3/6,Unknown significance,\N,intron_variant,6.3,0.0008,1KG_AFR_AF,DFNB59
458190,2:179319711:C>T,NM_001042702.3:c.407+457C>T,\N,\N,3/6,Unknown significance,\N,intron_variant,6.639,0.0023,1KG_AFR_AF,DFNB59
458191,2:179319713:G>T,NM_001042702.3:c.407+459G>T,\N,\N,3/6,Unknown significance,\N,intron_variant,0.371,\N,\N,DFNB59
458192,2:179319728:G>C,NM_001042702.3:c.407+474G>C,\N,\N,3/6,Unknown significance,\N,intron_variant,0.097,\N,\N,DFNB59
458193,2:179319733:C>G,NM_001042702.3:c.407+479C>G,\N,\N,3/6,Unknown significance,\N,intron_variant,4.088,0.001,1KG_EAS_AF,DFNB59
458194,2:179319734:C>T,NM_001042702.3:c.407+480C>T,\N,\N,3/6,Unknown significance,\N,intron_variant,4.613,0.00216763,EVS_AA_AF,DFNB59
458195,2:179319751:C>T,NM_001042702.3:c.407+497C>T,\N,\N,3/6,Unknown significance,\N,intron_variant,3.352,0.000942803,EVS_EA_AF,DFNB59
458196,2:179319768:A>G,NM_001042702.3:c.407+514A>G,\N,\N,3/6,Benign,\N,intron_variant,3.045,0.0184,1KG_SAS_AF,DFNB59
458197,2:179319769:C>T,NM_001042702.3:c.407+515C>T,\N,\N,3/6,Unknown significance,\N,intron_variant,2.394,0.001,1KG_EAS_AF|1KG_SAS_AF,DFNB59
458198,2:179319772:C>CG,NM_001042702.3:c.407+520dup,\N,\N,3/6,Unknown significance,\N,intron_variant,\N,\N,\N,DFNB59
458199,2:179319773:G>A,NM_001042702.3:c.407+519G>A,\N,\N,3/6,Benign,\N,intron_variant,0.129,0.0166,1KG_AFR_AF,DFNB59
458200,2:179319777:C>T,NM_001042702.3:c.407+523C>T,\N,\N,3/6,Unknown significance,\N,intron_variant,5.693,0.001,1KG_EAS_AF,DFNB59
458201,2:179319814:G>A,NM_001042702.3:c.407+560G>A,\N,\N,3/6,Unknown significance,\N,intron_variant,0.746,\N,\N,DFNB59
458202,2:179319831:C>T,NM_001042702.3:c.407+577C>T,\N,\N,3/6,Unknown significance,\N,intron_variant,5.204,0.00216763,EVS_AA_AF,DFNB59
458203,2:179319832:G>A,NM_001042702.3:c.407+578G>A,\N,\N,3/6,Unknown significance,\N,intron_variant,7.781,0.000314268,EVS_EA_AF,DFNB59
458204,2:179319858:G>T,NM_001042702.3:c.407+604G>T,\N,\N,3/6,Unknown significance,\N,intron_variant,10.7,0.001,1KG_EUR_AF,DFNB59
458205,2:179319870:C>T,NM_001042702.3:c.407+616C>T,\N,\N,3/6,Unknown significance,\N,intron_variant,13.02,0.001,1KG_EUR_AF,DFNB59
458206,2:179319871:G>A,NM_001042702.3:c.407+617G>A,\N,\N,3/6,Unknown significance,\N,intron_variant,12.62,0.000314268,EVS_EA_AF,DFNB59
458207,2:179319876:G>A,NM_001042702.3:c.407+622G>A,\N,\N,3/6,Unknown significance,\N,intron_variant,10.94,0.001,1KG_SAS_AF,DFNB59
458208,2:179319882:G>A,NM_001042702.3:c.407+628G>A,\N,\N,3/6,Unknown significance,\N,intron_variant,9.619,0.0014,1KG_AMR_AF,DFNB59
458209,2:179319884:C>T,NM_001042702.3:c.407+630C>T,\N,\N,3/6,Unknown significance,\N,intron_variant,10.8,0.0023,1KG_AFR_AF,DFNB59
458210,2:179319884:CTG>C,NM_001042702.3:c.407+633_407+634del,\N,\N,3/6,Unknown significance,\N,intron_variant,8.324,\N,\N,DFNB59
458211,2:179319886:G>C,NM_001042702.3:c.407+632G>C,\N,\N,3/6,Unknown significance,\N,intron_variant,3.092,0.002,1KG_EAS_AF,DFNB59
458212,2:179319887:T>G,NM_001042702.3:c.407+633T>G,\N,\N,3/6,Unknown significance,\N,intron_variant,8.687,\N,\N,DFNB59
458213,2:179319913:G>A,NM_001042702.3:c.407+659G>A,\N,\N,3/6,Unknown significance,\N,intron_variant,4.001,0.000314268,EVS_EA_AF,DFNB59
458214,2:179319917:G>T,NM_001042702.3:c.407+663G>T,\N,\N,3/6,Unknown significance,\N,intron_variant,4.521,0.000722543,EVS_AA_AF,DFNB59
458215,2:179319922:A>G,NM_001042702.3:c.407+668A>G,\N,\N,3/6,Unknown significance,\N,intron_variant,6.548,\N,\N,DFNB59
458216,2:179319924:C>T,NM_001042702.3:c.407+670C>T,\N,\N,3/6,Unknown significance,\N,intron_variant,7.996,\N,\N,DFNB59
458217,2:179319925:C>T,NM_001042702.3:c.407+671C>T,\N,\N,3/6,Unknown significance,\N,intron_variant,8.561,0.000722543,EVS_AA_AF,DFNB59
458218,2:179319944:C>T,NM_001042702.3:c.407+690C>T,\N,\N,3/6,Unknown significance,\N,intron_variant,4.766,0.001,1KG_SAS_AF,DFNB59
458219,2:179319993:C>T,NM_001042702.3:c.407+739C>T,\N,\N,3/6,Unknown significance,\N,intron_variant,8.141,0.0008,1KG_AFR_AF,DFNB59
458220,2:179320036:G>A,NM_001042702.3:c.408-701G>A,\N,\N,3/6,Unknown significance,\N,intron_variant,5.086,0.0031,1KG_SAS_AF,DFNB59
458221,2:179320072:G>A,NM_001042702.3:c.408-665G>A,\N,\N,3/6,Unknown significance,\N,intron_variant,5.235,0.0031,1KG_SAS_AF,DFNB59
458222,2:179320091:A>G,NM_001042702.3:c.408-646A>G,\N,\N,3/6,Unknown significance,\N,intron_variant,9.062,0.0008,1KG_AFR_AF,DFNB59
458223,2:179320141:G>A,NM_001042702.3:c.408-596G>A,\N,\N,3/6,Unknown significance,\N,intron_variant,9.46,0.00144509,EVS_AA_AF,DFNB59
458224,2:179320205:A>C,NM_001042702.3:c.408-532A>C,\N,\N,3/6,Unknown significance,\N,intron_variant,9.646,0.0008,1KG_AFR_AF,DFNB59
458225,2:179320271:C>G,NM_001042702.3:c.408-466C>G,\N,\N,3/6,Unknown significance,\N,intron_variant,15.01,0.0008,1KG_AFR_AF,DFNB59
458226,2:179320304:G>C,NM_001042702.3:c.408-433G>C,\N,\N,3/6,Unknown significance,\N,intron_variant,6.919,\N,\N,DFNB59
458227,2:179320370:T>TA,NM_001042702.3:c.408-352dup,\N,\N,3/6,Unknown significance,\N,intron_variant,1.469,\N,\N,DFNB59
458228,2:179320370:TA>T,NM_001042702.3:c.408-352del,\N,\N,3/6,Unknown significance,\N,intron_variant,5.536,\N,\N,DFNB59
458229,2:179320371:A>T,NM_001042702.3:c.408-366A>T,\N,\N,3/6,Benign,\N,intron_variant,1.463,0.0333,1KG_AFR_AF,DFNB59
458230,2:179320383:A>G,NM_001042702.3:c.408-354A>G,\N,\N,3/6,Unknown significance,\N,intron_variant,0.796,0.001,1KG_SAS_AF,DFNB59
458231,2:179320386:C>A,NM_001042702.3:c.408-351C>A,\N,\N,3/6,Unknown significance,\N,intron_variant,2.32,0.0015,1KG_AFR_AF,DFNB59
458232,2:179320427:A>G,NM_001042702.3:c.408-310A>G,\N,\N,3/6,Benign,\N,intron_variant,9.437,0.0184,1KG_SAS_AF,DFNB59
458233,2:179320434:C>A,NM_001042702.3:c.408-303C>A,\N,\N,3/6,Unknown significance,\N,intron_variant,8.477,0.001,1KG_EAS_AF,DFNB59
458234,2:179320439:C>T,NM_001042702.3:c.408-298C>T,\N,\N,3/6,Unknown significance,\N,intron_variant,4.873,0.0014,1KG_AMR_AF,DFNB59
458235,2:179320501:C>T,NM_001042702.3:c.408-236C>T,\N,\N,3/6,Unknown significance,\N,intron_variant,4.024,0.0014,1KG_AMR_AF,DFNB59
458236,2:179320502:C>T,NM_001042702.3:c.408-235C>T,\N,\N,3/6,Benign,\N,intron_variant,3.865,0.0772,1KG_AFR_AF,DFNB59
458237,2:179320562:TAGAG>T,NM_001042702.3:c.408-172_408-169del,\N,\N,3/6,Unknown significance,\N,intron_variant,9.08,\N,\N,DFNB59
458238,2:179320566:G>A,NM_001042702.3:c.408-171G>A,\N,\N,3/6,Unknown significance,\N,intron_variant,0.649,\N,\N,DFNB59
458239,2:179320589:T>G,NM_001042702.3:c.408-148T>G,\N,\N,3/6,Unknown significance,\N,intron_variant,8.936,0.0008,1KG_AFR_AF,DFNB59
458240,2:179320590:C>A,NM_001042702.3:c.408-147C>A,\N,\N,3/6,Unknown significance,\N,intron_variant,8.636,\N,\N,DFNB59
458241,2:179320601:A>G,NM_001042702.3:c.408-136A>G,\N,\N,3/6,Unknown significance,\N,intron_variant,15.35,\N,\N,DFNB59
458242,2:179320638:G>T,NM_001042702.3:c.408-99G>T,\N,\N,3/6,Unknown significance,\N,intron_variant,10.38,\N,\N,DFNB59
458243,2:179320645:T>C,NM_001042702.3:c.408-92T>C,\N,\N,3/6,Unknown significance,\N,intron_variant,4.709,0.004,1KG_EAS_AF,DFNB59
458244,2:179320667:G>A,NM_001042702.3:c.408-70G>A,\N,\N,3/6,Benign,\N,intron_variant,9.761,0.0184,1KG_SAS_AF,DFNB59
458245,2:179320675:T>C,NM_001042702.3:c.408-62T>C,\N,\N,3/6,Unknown significance,\N,intron_variant,8.779,0.001,1KG_EAS_AF,DFNB59
458246,2:179320687:T>C,NM_001042702.3:c.408-50T>C,\N,\N,3/6,Unknown significance,\N,intron_variant,4.018,0.0000181265,EXAC_NFE_AF,DFNB59
458247,2:179320694:T>C,NM_001042702.3:c.408-43T>C,\N,\N,3/6,Unknown significance,\N,intron_variant,7.501,\N,\N,DFNB59
458248,2:179320703:A>T,NM_001042702.3:c.408-34A>T,\N,\N,3/6,Unknown significance,\N,intron_variant,5.063,\N,\N,DFNB59
458249,2:179320710:C>G,NM_001042702.3:c.408-27C>G,\N,\N,3/6,Unknown significance,\N,intron_variant,8.718,0.000122339,EVS_EA_AF,DFNB59
458250,2:179320713:G>C,NM_001042702.3:c.408-24G>C,\N,\N,3/6,Unknown significance,\N,intron_variant,6.099,0.001,1KG_EUR_AF,DFNB59
458251,2:179320741:A>G,NM_001042702.3:c.412A>G,NP_001036167.1:p.Ile138Val,4/7,\N,Unknown significance,\N,missense_variant,10.53,0.000122041,EVS_EA_AF,DFNB59
458252,2:179320744:A>G,NM_001042702.3:c.415A>G,NP_001036167.1:p.Asn139Asp,4/7,\N,Unknown significance,\N,missense_variant,13.59,0.0000157843,EXAC_NFE_AF,DFNB59
458253,2:179320746:CT>C,NM_001042702.3:c.420del,NP_001036167.1:p.Phe140LeufsTer5,4/7,\N,Unknown significance,\N,frameshift_variant,34,0.000103799,EXAC_AFR_AF,DFNB59
458254,2:179320748:T>G,NM_001042702.3:c.419T>G,NP_001036167.1:p.Phe140Cys,4/7,\N,Unknown significance,\N,missense_variant,28.1,0.0000884956,EXAC_AMR_AF,DFNB59
458255,2:179320751:A>G,NM_001042702.3:c.422A>G,NP_001036167.1:p.Asp141Gly,4/7,\N,Unknown significance,\N,missense_variant,25.7,0.0000309703,EXAC_NFE_AF,DFNB59
458256,2:179320754:A>C,NM_001042702.3:c.425A>C,NP_001036167.1:p.His142Pro,4/7,\N,Unknown significance,\N,missense_variant,26.6,0.000103135,EXAC_AFR_AF,DFNB59
458257,2:179320762:A>G,NM_001042702.3:c.433A>G,NP_001036167.1:p.Ile145Val,4/7,\N,Likely benign,\N,missense_variant,8.759,0.000120569,EVS_EA_AF,DFNB59
458258,2:179320765:C>A,NM_001042702.3:c.436C>A,NP_001036167.1:p.Arg146Ser,4/7,\N,Unknown significance,\N,missense_variant,26.8,0.001,1KG_SAS_AF,DFNB59
458259,2:179320766:G>A,NM_001042702.3:c.437G>A,NP_001036167.1:p.Arg146His,4/7,\N,Unknown significance,\N,missense_variant,23.5,0.000120395,EVS_EA_AF,DFNB59
458260,2:179320774:A>G,NM_001042702.3:c.445A>G,NP_001036167.1:p.Arg149Gly,4/7,\N,Likely benign,\N,missense_variant,18.75,0.0000151925,EXAC_NFE_AF,DFNB59
458261,2:179320785:A>C,NM_001042702.3:c.456A>C,NP_001036167.1:p.Arg152Ser,4/7,\N,Likely benign,\N,missense_variant,12.61,0.0000151515,EXAC_NFE_AF,DFNB59
458262,2:179320785:A>G,NM_001042702.3:c.456A>G,NP_001036167.1:p.Arg152=,4/7,\N,Unknown significance,\N,synonymous_variant,1.696,0.001,1KG_EAS_AF,DFNB59
458263,2:179320791:A>G,NM_001042702.3:c.462A>G,NP_001036167.1:p.Ala154=,4/7,\N,Unknown significance,\N,synonymous_variant,9.743,0.0012288,EXAC_SAS_AF,DFNB59
458264,2:179320795:T>C,NM_001042702.3:c.466T>C,NP_001036167.1:p.Leu156=,4/7,\N,Unknown significance,\N,synonymous_variant,5.372,\N,\N,DFNB59
458265,2:179320798:T>G,NM_001042702.3:c.469T>G,NP_001036167.1:p.Cys157Gly,4/7,\N,Unknown significance,\N,missense_variant,23.7,0.0000872144,EXAC_AMR_AF,DFNB59
458266,2:179320807:A>G,NM_001042702.3:c.478A>G,NP_001036167.1:p.Met160Val,4/7,\N,Unknown significance,\N,missense_variant,5.61,0.0000151501,EXAC_NFE_AF,DFNB59
458267,2:179320808:T>C,NM_001042702.3:c.479T>C,NP_001036167.1:p.Met160Thr,4/7,\N,Unknown significance,\N,missense_variant,13.85,0.000119589,EVS_EA_AF,DFNB59
458268,2:179320819:C>T,NM_001042702.3:c.490C>T,NP_001036167.1:p.Arg164Ter,4/7,\N,Likely pathogenic,NSHL/ autosomal recessive DFNB59,stop_gained,37,0.000116686,EXAC_EAS_AF,DFNB59
458269,2:179320820:G>A,NM_001042702.3:c.491G>A,NP_001036167.1:p.Arg164Gln,4/7,\N,Unknown significance,\N,missense_variant,26.9,0.000123778,EXAC_SAS_AF,DFNB59
458270,2:179320822:A>G,NM_001042702.3:c.493A>G,NP_001036167.1:p.Thr165Ala,4/7,\N,Unknown significance,\N,missense_variant,24.1,0.0001239,EXAC_SAS_AF,DFNB59
458271,2:179320828:C>T,NM_001042702.3:c.499C>T,NP_001036167.1:p.Arg167Ter,4/7,\N,Pathogenic,Progressive hearing loss| autosomal recessive,stop_gained,37,0.000137187,EXAC_NFE_AF,DFNB59
458272,2:179320828:C>G,NM_001042702.3:c.499C>G,NP_001036167.1:p.Arg167Gly,4/7,\N,Unknown significance,\N,missense_variant,27.5,0.000124039,EXAC_SAS_AF,DFNB59
458273,2:179320831:C>T,NM_001042702.3:c.502C>T,NP_001036167.1:p.Gln168Ter,4/7,\N,Unknown significance,\N,stop_gained,40,0.0000152509,EXAC_NFE_AF,DFNB59
458274,2:179320835:GCTCA>G,NM_001042702.3:c.509_512del,NP_001036167.1:p.Ser170CysfsTer37,4/7,\N,Pathogenic,Progressive hearing loss| autosomal recessive,frameshift_variant,35,\N,\N,DFNB59
458275,2:179320844:C>T,NM_001042702.3:c.515C>T,NP_001036167.1:p.Ser172Phe,4/7,\N,Unknown significance,\N,missense_variant,30,0.0000153379,EXAC_NFE_AF,DFNB59
458276,2:179320848:G>A,NM_001042702.3:c.519G>A,NP_001036167.1:p.Val173=,4/7,\N,Unknown significance,\N,synonymous_variant,11.32,0.000117343,EXAC_EAS_AF,DFNB59
458277,2:179320861:C>T,NM_001042702.3:c.532C>T,NP_001036167.1:p.Arg178Ter,4/7,\N,Unknown significance,\N,stop_gained,41,\N,\N,DFNB59
458278,2:179320862:G>A,NM_001042702.3:c.533G>A,NP_001036167.1:p.Arg178Gln,4/7,\N,Unknown significance,\N,missense_variant,28.3,0.0000311526,EXAC_NFE_AF,DFNB59
458279,2:179320876:C>T,NM_001042702.3:c.547C>T,NP_001036167.1:p.Arg183Trp,4/7,\N,Pathogenic,Auditory neuropathy,missense_variant&splice_region_variant,27.1,\N,\N,DFNB59
458280,2:179320876:C>A,NM_001042702.3:c.547C>A,NP_001036167.1:p.Arg183=,4/7,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,16.95,\N,\N,DFNB59
458281,2:179320877:G>A,NM_001042702.3:c.548G>A,NP_001036167.1:p.Arg183Gln,4/7,\N,Pathogenic,Auditory neuropathy spectrum disorder,missense_variant&splice_region_variant,24.4,0.000364609,EXAC_EAS_AF,DFNB59
458282,2:179320884:C>T,NM_001042702.3:c.549+6C>T,\N,\N,4/6,Unknown significance,\N,splice_region_variant&intron_variant,13.28,0.0000163639,EXAC_NFE_AF,DFNB59
458283,2:179320889:C>T,NM_001042702.3:c.549+11C>T,\N,\N,4/6,Unknown significance,\N,intron_variant,12.23,0.0000657203,EXAC_SAS_AF,DFNB59
458284,2:179320896:G>T,NM_001042702.3:c.549+18G>T,\N,\N,4/6,Unknown significance,\N,intron_variant,2.797,0.0000666223,EXAC_SAS_AF,DFNB59
458285,2:179320905:A>G,NM_001042702.3:c.549+27A>G,\N,\N,4/6,Unknown significance,\N,intron_variant,7.952,0.001,1KG_EUR_AF,DFNB59
458286,2:179320912:A>G,NM_001042702.3:c.549+34A>G,\N,\N,4/6,Unknown significance,\N,intron_variant,12.35,0.000017691,EXAC_NFE_AF,DFNB59
458287,2:179320913:A>C,NM_001042702.3:c.549+35A>C,\N,\N,4/6,Unknown significance,\N,intron_variant,10.95,0.0000535427,EXAC_NFE_AF,DFNB59
458288,2:179320915:GT>G,NM_001042702.3:c.549+38del,\N,\N,4/6,Unknown significance,\N,intron_variant,12.89,0.0000181232,EXAC_NFE_AF,DFNB59
458289,2:179320929:A>AT,NM_001042702.3:c.549+58dup,\N,\N,4/6,Unknown significance,\N,intron_variant,4.952,\N,\N,DFNB59
458290,2:179320948:T>C,NM_001042702.3:c.549+70T>C,\N,\N,4/6,Unknown significance,\N,intron_variant,3.589,0.001,1KG_SAS_AF,DFNB59
458291,2:179320977:T>C,NM_001042702.3:c.549+99T>C,\N,\N,4/6,Unknown significance,\N,intron_variant,2.564,\N,\N,DFNB59
458292,2:179321003:A>G,NM_001042702.3:c.549+125A>G,\N,\N,4/6,Unknown significance,\N,intron_variant,3.112,0.001,1KG_EAS_AF,DFNB59
458293,2:179321039:G>GA,NM_001042702.3:c.549+172dup,\N,\N,4/6,Unknown significance,\N,intron_variant,1.151,\N,\N,DFNB59
458294,2:179321039:GA>G,NM_001042702.3:c.549+172del,\N,\N,4/6,Unknown significance,\N,intron_variant,0.104,\N,\N,DFNB59
458295,2:179321047:AAAAC>A,NM_001042702.3:c.549+173_549+176del,\N,\N,4/6,Unknown significance,\N,intron_variant,1.236,\N,\N,DFNB59
458296,2:179321052:A>C,NM_001042702.3:c.549+174A>C,\N,\N,4/6,Benign,\N,intron_variant,0.083,0.0061,1KG_AFR_AF,DFNB59
458297,2:179321070:CAT>C,NM_001042702.3:c.549+193_549+194del,\N,\N,4/6,Unknown significance,\N,intron_variant,12.96,0.002,1KG_EUR_AF,DFNB59
458298,2:179321112:C>T,NM_001042702.3:c.549+234C>T,\N,\N,4/6,Unknown significance,\N,intron_variant,2.75,0.002,1KG_EAS_AF,DFNB59
458299,2:179321113:G>A,NM_001042702.3:c.549+235G>A,\N,\N,4/6,Unknown significance,\N,intron_variant,0.482,0.0014,1KG_AMR_AF,DFNB59
458300,2:179321124:A>G,NM_001042702.3:c.549+246A>G,\N,\N,4/6,Unknown significance,\N,intron_variant,3.807,0.001,1KG_EUR_AF,DFNB59
458301,2:179321128:C>T,NM_001042702.3:c.549+250C>T,\N,\N,4/6,Unknown significance,\N,intron_variant,2.218,\N,\N,DFNB59
458302,2:179321133:A>G,NM_001042702.3:c.549+255A>G,\N,\N,4/6,Unknown significance,\N,intron_variant,1.351,0.0014,1KG_AMR_AF,DFNB59
458303,2:179321203:C>T,NM_001042702.3:c.549+325C>T,\N,\N,4/6,Unknown significance,\N,intron_variant,0.265,0.001,1KG_SAS_AF,DFNB59
458304,2:179321257:C>T,NM_001042702.3:c.549+379C>T,\N,\N,4/6,Benign,\N,intron_variant,4.285,0.0051,1KG_SAS_AF,DFNB59
458305,2:179321258:C>T,NM_001042702.3:c.549+380C>T,\N,\N,4/6,Unknown significance,\N,intron_variant,0.209,0.0043,1KG_AMR_AF,DFNB59
458306,2:179321264:G>A,NM_001042702.3:c.549+386G>A,\N,\N,4/6,Unknown significance,\N,intron_variant,0.199,\N,\N,DFNB59
458307,2:179321267:C>T,NM_001042702.3:c.549+389C>T,\N,\N,4/6,Unknown significance,\N,intron_variant,1.629,\N,\N,DFNB59
458308,2:179321268:G>A,NM_001042702.3:c.549+390G>A,\N,\N,4/6,Unknown significance,\N,intron_variant,2.878,0.001,1KG_EUR_AF,DFNB59
458309,2:179321276:T>G,NM_001042702.3:c.549+398T>G,\N,\N,4/6,Unknown significance,\N,intron_variant,3.492,0.002,1KG_EAS_AF,DFNB59
458310,2:179321300:T>A,NM_001042702.3:c.549+422T>A,\N,\N,4/6,Unknown significance,\N,intron_variant,1.98,0.0008,1KG_AFR_AF,DFNB59
458311,2:179321329:C>T,NM_001042702.3:c.549+451C>T,\N,\N,4/6,Unknown significance,\N,intron_variant,6.471,\N,\N,DFNB59
458312,2:179321336:T>C,NM_001042702.3:c.549+458T>C,\N,\N,4/6,Unknown significance,\N,intron_variant,5.861,\N,\N,DFNB59
458313,2:179321342:A>G,NM_001042702.3:c.549+464A>G,\N,\N,4/6,Benign,\N,intron_variant,5.001,0.0129,1KG_AFR_AF,DFNB59
458314,2:179321347:G>T,NM_001042702.3:c.549+469G>T,\N,\N,4/6,Unknown significance,\N,intron_variant,3.41,\N,\N,DFNB59
458315,2:179321397:G>A,NM_001042702.3:c.549+519G>A,\N,\N,4/6,Unknown significance,\N,intron_variant,6.278,\N,\N,DFNB59
458316,2:179321422:A>AG,NM_001042702.3:c.549+546dup,\N,\N,4/6,Unknown significance,\N,intron_variant,\N,\N,\N,DFNB59
458317,2:179321427:G>A,NM_001042702.3:c.549+549G>A,\N,\N,4/6,Unknown significance,\N,intron_variant,2.754,\N,\N,DFNB59
458318,2:179321437:T>C,NM_001042702.3:c.549+559T>C,\N,\N,4/6,Unknown significance,\N,intron_variant,2.073,0.001,1KG_EAS_AF,DFNB59
458319,2:179321440:G>A,NM_001042702.3:c.549+562G>A,\N,\N,4/6,Unknown significance,\N,intron_variant,2.645,0.001,1KG_EUR_AF,DFNB59
458320,2:179321443:G>A,NM_001042702.3:c.549+565G>A,\N,\N,4/6,Unknown significance,\N,intron_variant,1.509,0.0014,1KG_AMR_AF,DFNB59
458321,2:179321464:A>T,NM_001042702.3:c.549+586A>T,\N,\N,4/6,Unknown significance,\N,intron_variant,1.444,\N,\N,DFNB59
458322,2:179321484:A>C,NM_001042702.3:c.549+606A>C,\N,\N,4/6,Benign,\N,intron_variant,0.661,0.0051,1KG_SAS_AF,DFNB59
458323,2:179321493:CAAAA>C,NM_001042702.3:c.549+619_549+622del,\N,\N,4/6,Benign,\N,intron_variant,5.036,0.1021,1KG_AFR_AF,DFNB59
458324,2:179321500:A>G,NM_001042702.3:c.549+622A>G,\N,\N,4/6,Unknown significance,\N,intron_variant,2.483,\N,\N,DFNB59
458325,2:179321600:A>C,NM_001042702.3:c.549+722A>C,\N,\N,4/6,Unknown significance,\N,intron_variant,0.352,0.001,1KG_EAS_AF,DFNB59
458326,2:179321608:A>G,NM_001042702.3:c.549+730A>G,\N,\N,4/6,Unknown significance,\N,intron_variant,3.179,0.001,1KG_EAS_AF,DFNB59
458327,2:179321661:T>C,NM_001042702.3:c.549+783T>C,\N,\N,4/6,Unknown significance,\N,intron_variant,0.942,0.0008,1KG_AFR_AF,DFNB59
458328,2:179321697:T>A,NM_001042702.3:c.549+819T>A,\N,\N,4/6,Unknown significance,\N,intron_variant,12.3,0.0008,1KG_AFR_AF,DFNB59
458329,2:179321713:T>G,NM_001042702.3:c.549+835T>G,\N,\N,4/6,Unknown significance,\N,intron_variant,3.59,\N,\N,DFNB59
458330,2:179321714:G>C,NM_001042702.3:c.549+836G>C,\N,\N,4/6,Unknown significance,\N,intron_variant,0.488,\N,\N,DFNB59
458331,2:179321718:C>T,NM_001042702.3:c.549+840C>T,\N,\N,4/6,Benign,\N,intron_variant,1.63,0.0051,1KG_SAS_AF,DFNB59
458332,2:179321719:G>A,NM_001042702.3:c.549+841G>A,\N,\N,4/6,Unknown significance,\N,intron_variant,2.723,0.001,1KG_SAS_AF,DFNB59
458333,2:179321756:C>A,NM_001042702.3:c.549+878C>A,\N,\N,4/6,Unknown significance,\N,intron_variant,9.573,0.0014,1KG_AMR_AF,DFNB59
458334,2:179321756:C>T,NM_001042702.3:c.549+878C>T,\N,\N,4/6,Unknown significance,\N,intron_variant,9.52,\N,\N,DFNB59
458335,2:179321757:G>A,NM_001042702.3:c.549+879G>A,\N,\N,4/6,Unknown significance,\N,intron_variant,6.873,0.002,1KG_SAS_AF,DFNB59
458336,2:179321759:G>C,NM_001042702.3:c.549+881G>C,\N,\N,4/6,Benign,\N,intron_variant,2.377,0.0219,1KG_AFR_AF,DFNB59
458337,2:179321781:C>T,NM_001042702.3:c.549+903C>T,\N,\N,4/6,Benign,\N,intron_variant,0.143,0.0184,1KG_SAS_AF,DFNB59
458338,2:179321806:C>T,NM_001042702.3:c.549+928C>T,\N,\N,4/6,Unknown significance,\N,intron_variant,5.3,0.001,1KG_EUR_AF,DFNB59
458339,2:179321841:A>G,NM_001042702.3:c.549+963A>G,\N,\N,4/6,Unknown significance,\N,intron_variant,1.14,0.0008,1KG_AFR_AF,DFNB59
458340,2:179321842:C>T,NM_001042702.3:c.549+964C>T,\N,\N,4/6,Unknown significance,\N,intron_variant,3.449,0.001,1KG_SAS_AF,DFNB59
458341,2:179321857:G>A,NM_001042702.3:c.549+979G>A,\N,\N,4/6,Unknown significance,\N,intron_variant,4.871,0.001,1KG_EUR_AF|1KG_SAS_AF,DFNB59
458342,2:179321862:T>C,NM_001042702.3:c.549+984T>C,\N,\N,4/6,Unknown significance,\N,intron_variant,2.156,0.0015,1KG_AFR_AF,DFNB59
458343,2:179321881:G>A,NM_001042702.3:c.549+1003G>A,\N,\N,4/6,Benign,\N,intron_variant,0.51,0.0086,1KG_AMR_AF,DFNB59
458344,2:179321896:TG>T,NM_001042702.3:c.549+1019del,\N,\N,4/6,Unknown significance,\N,intron_variant,0.021,\N,\N,DFNB59
458345,2:179321904:T>C,NM_001042702.3:c.549+1026T>C,\N,\N,4/6,Benign,\N,intron_variant,0.658,0.6567,1KG_EAS_AF,DFNB59
458346,2:179321911:G>A,NM_001042702.3:c.549+1033G>A,\N,\N,4/6,Unknown significance,\N,intron_variant,1.001,0.002,1KG_SAS_AF,DFNB59
458347,2:179321924:G>A,NM_001042702.3:c.549+1046G>A,\N,\N,4/6,Benign,\N,intron_variant,1.183,0.0098,1KG_AFR_AF,DFNB59
458348,2:179321950:C>T,NM_001042702.3:c.549+1072C>T,\N,\N,4/6,Benign,\N,intron_variant,0.168,0.0184,1KG_SAS_AF,DFNB59
458349,2:179322000:T>C,NM_001042702.3:c.549+1122T>C,\N,\N,4/6,Unknown significance,\N,intron_variant,1.636,0.001,1KG_EUR_AF,DFNB59
458350,2:179322001:A>G,NM_001042702.3:c.549+1123A>G,\N,\N,4/6,Benign,\N,intron_variant,2.779,0.1538,1KG_EAS_AF,DFNB59
458351,2:179322028:C>G,NM_001042702.3:c.549+1150C>G,\N,\N,4/6,Unknown significance,\N,intron_variant,8.81,\N,\N,DFNB59
458352,2:179322068:T>C,NM_001042702.3:c.550-1169T>C,\N,\N,4/6,Benign,\N,intron_variant,0.244,0.0184,1KG_SAS_AF,DFNB59
458353,2:179322079:A>G,NM_001042702.3:c.550-1158A>G,\N,\N,4/6,Unknown significance,\N,intron_variant,6.93,0.001,1KG_EAS_AF,DFNB59
458354,2:179322090:C>T,NM_001042702.3:c.550-1147C>T,\N,\N,4/6,Benign,\N,intron_variant,7.806,0.0106,1KG_AFR_AF,DFNB59
458355,2:179322113:T>C,NM_001042702.3:c.550-1124T>C,\N,\N,4/6,Unknown significance,\N,intron_variant,3.196,0.0008,1KG_AFR_AF,DFNB59
458356,2:179322140:C>G,NM_001042702.3:c.550-1097C>G,\N,\N,4/6,Unknown significance,\N,intron_variant,3.459,\N,\N,DFNB59
458357,2:179322148:A>G,NM_001042702.3:c.550-1089A>G,\N,\N,4/6,Unknown significance,\N,intron_variant,5.108,0.0015,1KG_AFR_AF,DFNB59
458358,2:179322164:G>A,NM_001042702.3:c.550-1073G>A,\N,\N,4/6,Benign,\N,intron_variant,3.815,0.013,1KG_AMR_AF,DFNB59
458359,2:179322186:T>G,NM_001042702.3:c.550-1051T>G,\N,\N,4/6,Unknown significance,\N,intron_variant,7.055,0.0008,1KG_AFR_AF,DFNB59
458360,2:179322188:A>G,NM_001042702.3:c.550-1049A>G,\N,\N,4/6,Unknown significance,\N,intron_variant,6.026,0.001,1KG_SAS_AF,DFNB59
458361,2:179322235:C>T,NM_001042702.3:c.550-1002C>T,\N,\N,4/6,Unknown significance,\N,intron_variant,1.444,0.002,1KG_EAS_AF,DFNB59
458362,2:179322243:T>C,NM_001042702.3:c.550-994T>C,\N,\N,4/6,Unknown significance,\N,intron_variant,8.551,0.0008,1KG_AFR_AF,DFNB59
458363,2:179322295:A>G,NM_001042702.3:c.550-942A>G,\N,\N,4/6,Unknown significance,\N,intron_variant,9.539,\N,\N,DFNB59
458364,2:179322311:T>TGGTCCCTCCCACC,NM_001042702.3:c.550-925_550-924insGTCCCTCCCACCG,\N,\N,4/6,Unknown significance,\N,intron_variant,8.238,\N,\N,DFNB59
458365,2:179322311:T>TGGTCCCTCCCACCG,NM_001042702.3:c.550-925_550-924insGTCCCTCCCACCGG,\N,\N,4/6,Benign,\N,intron_variant,8.127,0.6597,1KG_EAS_AF,DFNB59
458366,2:179322312:G>GGTCC,NM_001042702.3:c.550-925_550-924insGTCC,\N,\N,4/6,Unknown significance,\N,intron_variant,\N,\N,\N,DFNB59
458367,2:179322313:CTT>GTCCCTCCCACCGCTA,NM_001042702.3:c.550-924_550-922delinsGTCCCTCCCACCGCTA,\N,\N,4/6,Unknown significance,\N,intron_variant,\N,\N,\N,DFNB59
458368,2:179322314:T>TCCCACCGC,NM_001042702.3:c.550-923_550-922insCCCACCGC,\N,\N,4/6,Unknown significance,\N,intron_variant,\N,\N,\N,DFNB59
458369,2:179322315:T>A,NM_001042702.3:c.550-922T>A,\N,\N,4/6,Benign,\N,intron_variant,12.45,0.6597,1KG_EAS_AF,DFNB59
458370,2:179322315:T>TCCTCCCACCGCTA,NM_001042702.3:c.550-922_550-921insCCTCCCACCGCTA,\N,\N,4/6,Unknown significance,\N,intron_variant,\N,\N,\N,DFNB59
458371,2:179322334:A>G,NM_001042702.3:c.550-903A>G,\N,\N,4/6,Unknown significance,\N,intron_variant,20.5,0.001,1KG_EUR_AF,DFNB59
458372,2:179322420:C>T,NM_001042702.3:c.550-817C>T,\N,\N,4/6,Unknown significance,\N,intron_variant,10.43,0.001,1KG_EUR_AF,DFNB59
458373,2:179322424:T>C,NM_001042702.3:c.550-813T>C,\N,\N,4/6,Unknown significance,\N,intron_variant,8.321,0.000722543,EVS_AA_AF,DFNB59
458374,2:179322433:T>C,NM_001042702.3:c.550-804T>C,\N,\N,4/6,Benign,\N,intron_variant,12.38,0.0079,1KG_EAS_AF,DFNB59
458375,2:179322435:G>A,NM_001042702.3:c.550-802G>A,\N,\N,4/6,Benign,\N,intron_variant,13.17,0.00565682,EVS_EA_AF,DFNB59
458376,2:179322438:T>TCAGC,NM_001042702.3:c.550-799_550-798insCAGC,\N,\N,4/6,Benign,\N,intron_variant,11.63,0.0079,1KG_EAS_AF,DFNB59
458377,2:179322440:C>T,NM_001042702.3:c.550-797C>T,\N,\N,4/6,Unknown significance,\N,intron_variant,12.25,0.0014,1KG_AMR_AF,DFNB59
458378,2:179322466:C>T,NM_001042702.3:c.550-771C>T,\N,\N,4/6,Unknown significance,\N,intron_variant,4.508,0.0008,1KG_AFR_AF,DFNB59
458379,2:179322467:G>C,NM_001042702.3:c.550-770G>C,\N,\N,4/6,Unknown significance,\N,intron_variant,9.424,\N,\N,DFNB59
458380,2:179322482:C>T,NM_001042702.3:c.550-755C>T,\N,\N,4/6,Unknown significance,\N,intron_variant,11.93,0.001,1KG_EAS_AF,DFNB59
458381,2:179322512:G>A,NM_001042702.3:c.550-725G>A,\N,\N,4/6,Unknown significance,\N,intron_variant,11.13,\N,\N,DFNB59
458382,2:179322522:G>A,NM_001042702.3:c.550-715G>A,\N,\N,4/6,Unknown significance,\N,intron_variant,9.161,\N,\N,DFNB59
458383,2:179322531:G>A,NM_001042702.3:c.550-706G>A,\N,\N,4/6,Benign,\N,intron_variant,2.628,0.0189,1KG_AFR_AF,DFNB59
458384,2:179322538:A>T,NM_001042702.3:c.550-699A>T,\N,\N,4/6,Unknown significance,\N,intron_variant,5.481,0.0029,1KG_AMR_AF,DFNB59
458385,2:179322548:T>C,NM_001042702.3:c.550-689T>C,\N,\N,4/6,Unknown significance,\N,intron_variant,2.464,\N,\N,DFNB59
458386,2:179322569:G>A,NM_001042702.3:c.550-668G>A,\N,\N,4/6,Unknown significance,\N,intron_variant,4.239,0.001,1KG_SAS_AF,DFNB59
458387,2:179322636:A>T,NM_001042702.3:c.550-601A>T,\N,\N,4/6,Unknown significance,\N,intron_variant,9.557,0.0008,1KG_AFR_AF,DFNB59
458388,2:179322671:A>G,NM_001042702.3:c.550-566A>G,\N,\N,4/6,Unknown significance,\N,intron_variant,5.115,0.0014,1KG_AMR_AF,DFNB59
458389,2:179322758:G>A,NM_001042702.3:c.550-479G>A,\N,\N,4/6,Benign,\N,intron_variant,2.21,0.0092,1KG_SAS_AF,DFNB59
458390,2:179322759:C>T,NM_001042702.3:c.550-478C>T,\N,\N,4/6,Benign,\N,intron_variant,5.18,0.0184,1KG_SAS_AF,DFNB59
458391,2:179322766:A>C,NM_001042702.3:c.550-471A>C,\N,\N,4/6,Unknown significance,\N,intron_variant,1.735,0.0014,1KG_AMR_AF,DFNB59
458392,2:179322835:T>A,NM_001042702.3:c.550-402T>A,\N,\N,4/6,Unknown significance,\N,intron_variant,8.289,0.0014,1KG_AMR_AF,DFNB59
458393,2:179322896:A>G,NM_001042702.3:c.550-341A>G,\N,\N,4/6,Unknown significance,\N,intron_variant,8.946,0.001,1KG_EAS_AF,DFNB59
458394,2:179322941:TA>T,NM_001042702.3:c.550-282del,\N,\N,4/6,Unknown significance,\N,intron_variant,0.145,\N,\N,DFNB59
458395,2:179322964:C>T,NM_001042702.3:c.550-273C>T,\N,\N,4/6,Unknown significance,\N,intron_variant,5.6,0.0008,1KG_AFR_AF,DFNB59
458396,2:179322980:T>C,NM_001042702.3:c.550-257T>C,\N,\N,4/6,Unknown significance,\N,intron_variant,6.731,0.0023,1KG_AFR_AF,DFNB59
458397,2:179323054:G>A,NM_001042702.3:c.550-183G>A,\N,\N,4/6,Unknown significance,\N,intron_variant,10.95,\N,\N,DFNB59
458398,2:179323065:T>C,NM_001042702.3:c.550-172T>C,\N,\N,4/6,Unknown significance,\N,intron_variant,10.74,\N,\N,DFNB59
458399,2:179323073:T>C,NM_001042702.3:c.550-164T>C,\N,\N,4/6,Unknown significance,\N,intron_variant,12.95,0.000722543,EVS_AA_AF,DFNB59
458400,2:179323117:C>T,NM_001042702.3:c.550-120C>T,\N,\N,4/6,Benign,\N,intron_variant,11.55,0.6607,1KG_EAS_AF,DFNB59
458401,2:179323131:T>A,NM_001042702.3:c.550-106T>A,\N,\N,4/6,Benign,\N,intron_variant,8.634,0.0139,1KG_EUR_AF,DFNB59
458402,2:179323153:G>A,NM_001042702.3:c.550-84G>A,\N,\N,4/6,Unknown significance,\N,intron_variant,5.173,\N,\N,DFNB59
458403,2:179323172:T>C,NM_001042702.3:c.550-65T>C,\N,\N,4/6,Unknown significance,\N,intron_variant,2.276,\N,\N,DFNB59
458404,2:179323199:T>C,NM_001042702.3:c.550-38T>C,\N,\N,4/6,Unknown significance,\N,intron_variant,3.343,0.0000165898,EXAC_NFE_AF,DFNB59
458405,2:179323202:G>A,NM_001042702.3:c.550-35G>A,\N,\N,4/6,Unknown significance,\N,intron_variant,2.19,0.0000165854,EXAC_NFE_AF,DFNB59
458406,2:179323214:T>C,NM_001042702.3:c.550-23T>C,\N,\N,4/6,Unknown significance,\N,intron_variant,3.435,0.0008,1KG_AFR_AF,DFNB59
458407,2:179323216:T>G,NM_001042702.3:c.550-21T>G,\N,\N,4/6,Unknown significance,\N,intron_variant,5.89,0.0001146,EXAC_AFR_AF,DFNB59
458408,2:179323233:A>G,NM_001042702.3:c.550-4A>G,\N,\N,4/6,Unknown significance,\N,splice_region_variant&intron_variant,11.2,0.0000152481,EXAC_NFE_AF,DFNB59
458409,2:179323246:A>T,NM_001042702.3:c.559A>T,NP_001036167.1:p.Met187Leu,5/7,\N,Likely benign,\N,missense_variant,16.57,0.0000150399,EXAC_NFE_AF,DFNB59
458410,2:179323249:G>T,NM_001042702.3:c.562G>T,NP_001036167.1:p.Asp188Tyr,5/7,\N,Unknown significance,\N,missense_variant,28.3,0.0015,1KG_AFR_AF,DFNB59
458411,2:179323255:C>G,NM_001042702.3:c.568C>G,NP_001036167.1:p.Gln190Glu,5/7,\N,Unknown significance,\N,missense_variant,11.67,0.0000150065,EXAC_NFE_AF,DFNB59
458412,2:179323261:C>T,NM_001042702.3:c.574C>T,NP_001036167.1:p.Pro192Ser,5/7,\N,Likely benign,\N,missense_variant,14.6,0.0000150015,EXAC_NFE_AF,DFNB59
458413,2:179323266:G>A,NM_001042702.3:c.579G>A,NP_001036167.1:p.Lys193=,5/7,\N,Unknown significance,\N,synonymous_variant,12.43,0.001,1KG_EUR_AF,DFNB59
458414,2:179323270:A>C,NM_001042702.3:c.583A>C,NP_001036167.1:p.Arg195=,5/7,\N,Unknown significance,\N,synonymous_variant,5.894,0.0000149912,EXAC_NFE_AF,DFNB59
458415,2:179323272:G>A,NM_001042702.3:c.585G>A,NP_001036167.1:p.Arg195=,5/7,\N,Unknown significance,\N,synonymous_variant,13.3,0.000204165,EXAC_AFR_AF,DFNB59
458416,2:179323275:C>G,NM_001042702.3:c.588C>G,NP_001036167.1:p.Asp196Glu,5/7,\N,Likely benign,\N,missense_variant,17.95,0.000231857,EXAC_EAS_AF,DFNB59
458417,2:179323275:C>T,NM_001042702.3:c.588C>T,NP_001036167.1:p.Asp196=,5/7,\N,Unknown significance,\N,synonymous_variant,13.59,0.0000299796,EXAC_NFE_AF,DFNB59
458418,2:179323280:C>A,NM_001042702.3:c.593C>A,NP_001036167.1:p.Ala198Asp,5/7,\N,Unknown significance,\N,missense_variant,23.6,0.000579643,EXAC_EAS_AF,DFNB59
458419,2:179323284:T>G,NM_001042702.3:c.597T>G,NP_001036167.1:p.Ile199Met,5/7,\N,Unknown significance,\N,missense_variant,25.1,0.0000149871,EXAC_NFE_AF,DFNB59
458420,2:179323290:C>T,NM_001042702.3:c.603C>T,NP_001036167.1:p.Phe201=,5/7,\N,Unknown significance,\N,synonymous_variant,16.28,0.000115929,EXAC_EAS_AF,DFNB59
458421,2:179323293:A>G,NM_001042702.3:c.606A>G,NP_001036167.1:p.Pro202=,5/7,\N,Unknown significance,\N,synonymous_variant,9.251,0.0000149862,EXAC_NFE_AF,DFNB59
458422,2:179323300:A>G,NM_001042702.3:c.613A>G,NP_001036167.1:p.Thr205Ala,5/7,\N,Unknown significance,\N,missense_variant,23.8,0.0000149858,EXAC_NFE_AF,DFNB59
458423,2:179323303:A>G,NM_001042702.3:c.616A>G,NP_001036167.1:p.Thr206Ala,5/7,\N,Unknown significance,\N,missense_variant,22.6,0.0000149849,EXAC_NFE_AF,DFNB59
458424,2:179323306:A>G,NM_001042702.3:c.619A>G,NP_001036167.1:p.Ile207Val,5/7,\N,Unknown significance,\N,missense_variant,20.6,0.0000605694,EXAC_SAS_AF,DFNB59
458425,2:179323317:T>A,NM_001042702.3:c.630T>A,NP_001036167.1:p.Ser210Arg,5/7,\N,Unknown significance,\N,missense_variant,23,\N,\N,DFNB59
458426,2:179323326:A>G,NM_001042702.3:c.639A>G,NP_001036167.1:p.Glu213=,5/7,\N,Unknown significance,\N,synonymous_variant,9.077,0.000431928,EXAC_AMR_AF,DFNB59
458427,2:179323329:C>G,NM_001042702.3:c.642C>G,NP_001036167.1:p.Leu214=,5/7,\N,Unknown significance,\N,synonymous_variant,13.15,0.000014984,EXAC_NFE_AF,DFNB59
458428,2:179323329:C>T,NM_001042702.3:c.642C>T,NP_001036167.1:p.Leu214=,5/7,\N,Unknown significance,\N,synonymous_variant,13.81,\N,\N,DFNB59
458429,2:179323333:A>G,NM_001042702.3:c.646A>G,NP_001036167.1:p.Ile216Val,5/7,\N,Likely benign,\N,missense_variant,6.582,0.000172771,EXAC_AMR_AF,DFNB59
458430,2:179323335:A>G,NM_001042702.3:c.648A>G,NP_001036167.1:p.Ile216Met,5/7,\N,Unknown significance,\N,missense_variant,24.4,0.000268673,EVS_AA_AF,DFNB59
458431,2:179323343:A>G,NM_001042702.3:c.656A>G,NP_001036167.1:p.Asp219Gly,5/7,\N,Unknown significance,\N,missense_variant,24.9,0.0000863856,EXAC_AMR_AF,DFNB59
458432,2:179323349:C>T,NM_001042702.3:c.662C>T,NP_001036167.1:p.Ala221Val,5/7,\N,Likely benign,\N,missense_variant,21.9,0.000534474,EVS_AA_AF,DFNB59
458433,2:179323359:G>A,NM_001042702.3:c.667+5G>A,\N,\N,5/6,Unknown significance,\N,splice_region_variant&intron_variant,17.65,0.0000863856,EXAC_AMR_AF,DFNB59
458434,2:179323371:C>T,NM_001042702.3:c.667+17C>T,\N,\N,5/6,Unknown significance,\N,intron_variant,14.9,0.000172771,EXAC_AMR_AF,DFNB59
458435,2:179323373:T>C,NM_001042702.3:c.667+19T>C,\N,\N,5/6,Unknown significance,\N,intron_variant,13.68,\N,\N,DFNB59
458436,2:179323402:G>A,NM_001042702.3:c.667+48G>A,\N,\N,5/6,Unknown significance,\N,intron_variant,5.469,0.000115929,EXAC_EAS_AF,DFNB59
458437,2:179323405:T>TAACATGTAAGGA,NM_001042702.3:c.667+51_667+52insAACATGTAAGGA,\N,\N,5/6,Unknown significance,\N,intron_variant,2.01,\N,\N,DFNB59
458438,2:179323418:G>T,NM_001042702.3:c.667+64G>T,\N,\N,5/6,Benign,\N,intron_variant,1.289,0.0195087,EVS_AA_AF,DFNB59
458439,2:179323460:A>G,NM_001042702.3:c.667+106A>G,\N,\N,5/6,Unknown significance,\N,intron_variant,5.898,0.001,1KG_SAS_AF,DFNB59
458440,2:179323463:A>G,NM_001042702.3:c.667+109A>G,\N,\N,5/6,Unknown significance,\N,intron_variant,6.358,\N,\N,DFNB59
458441,2:179323485:T>C,NM_001042702.3:c.667+131T>C,\N,\N,5/6,Unknown significance,\N,intron_variant,2.647,\N,\N,DFNB59
458442,2:179323525:C>G,NM_001042702.3:c.667+171C>G,\N,\N,5/6,Unknown significance,\N,intron_variant,2.51,0.000628536,EVS_EA_AF,DFNB59
458443,2:179323526:G>A,NM_001042702.3:c.667+172G>A,\N,\N,5/6,Unknown significance,\N,intron_variant,1.843,0.0008,1KG_AFR_AF,DFNB59
458444,2:179323541:A>G,NM_001042702.3:c.667+187A>G,\N,\N,5/6,Benign,\N,intron_variant,8.644,0.008,1KG_EUR_AF,DFNB59
458445,2:179323560:T>G,NM_001042702.3:c.667+206T>G,\N,\N,5/6,Unknown significance,\N,intron_variant,16.5,0.001,1KG_EAS_AF,DFNB59
458446,2:179323561:G>C,NM_001042702.3:c.667+207G>C,\N,\N,5/6,Unknown significance,\N,intron_variant,14.01,\N,\N,DFNB59
458447,2:179323567:G>A,NM_001042702.3:c.667+213G>A,\N,\N,5/6,Unknown significance,\N,intron_variant,16.32,0.001,1KG_EAS_AF,DFNB59
458448,2:179323571:G>A,NM_001042702.3:c.667+217G>A,\N,\N,5/6,Unknown significance,\N,intron_variant,14.48,\N,\N,DFNB59
458449,2:179323612:T>TA,NM_001042702.3:c.667+262dup,\N,\N,5/6,Unknown significance,\N,intron_variant,1.562,\N,\N,DFNB59
458450,2:179323629:A>G,NM_001042702.3:c.667+275A>G,\N,\N,5/6,Unknown significance,\N,intron_variant,2.701,\N,\N,DFNB59
458451,2:179323650:A>G,NM_001042702.3:c.667+296A>G,\N,\N,5/6,Benign,\N,intron_variant,1.53,0.007,1KG_EUR_AF,DFNB59
458452,2:179323699:A>G,NM_001042702.3:c.667+345A>G,\N,\N,5/6,Benign,\N,intron_variant,3.899,0.0184,1KG_SAS_AF,DFNB59
458453,2:179323717:T>A,NM_001042702.3:c.667+363T>A,\N,\N,5/6,Unknown significance,\N,intron_variant,5.397,\N,\N,DFNB59
458454,2:179323721:A>T,NM_001042702.3:c.667+367A>T,\N,\N,5/6,Unknown significance,\N,intron_variant,5.384,0.0008,1KG_AFR_AF,DFNB59
458455,2:179323739:G>A,NM_001042702.3:c.667+385G>A,\N,\N,5/6,Benign,\N,intron_variant,6.525,0.0209538,EVS_AA_AF,DFNB59
458456,2:179323743:G>A,NM_001042702.3:c.667+389G>A,\N,\N,5/6,Unknown significance,\N,intron_variant,0.397,0.000314268,EVS_EA_AF,DFNB59
458457,2:179323750:C>T,NM_001042702.3:c.667+396C>T,\N,\N,5/6,Unknown significance,\N,intron_variant,2.276,\N,\N,DFNB59
458458,2:179323776:T>G,NM_001042702.3:c.667+422T>G,\N,\N,5/6,Unknown significance,\N,intron_variant,9.51,0.0014,1KG_AMR_AF,DFNB59
458459,2:179323837:T>C,NM_001042702.3:c.667+483T>C,\N,\N,5/6,Unknown significance,\N,intron_variant,3.18,0.001,1KG_SAS_AF,DFNB59
458460,2:179323843:G>A,NM_001042702.3:c.667+489G>A,\N,\N,5/6,Unknown significance,\N,intron_variant,4.953,0.001,1KG_EUR_AF,DFNB59
458461,2:179323876:A>G,NM_001042702.3:c.667+522A>G,\N,\N,5/6,Unknown significance,\N,intron_variant,4.214,\N,\N,DFNB59
458462,2:179323889:G>A,NM_001042702.3:c.667+535G>A,\N,\N,5/6,Benign,\N,intron_variant,2.081,0.00526316,EXAC_OTH_AF,DFNB59
458463,2:179323945:G>T,NM_001042702.3:c.667+591G>T,\N,\N,5/6,Unknown significance,\N,intron_variant,0.633,0.00012639,EXAC_SAS_AF,DFNB59
458464,2:179323948:C>T,NM_001042702.3:c.667+594C>T,\N,\N,5/6,Unknown significance,\N,intron_variant,5.058,0.000314268,EVS_EA_AF,DFNB59
458465,2:179323960:T>C,NM_001042702.3:c.667+606T>C,\N,\N,5/6,Unknown significance,\N,intron_variant,5.236,\N,\N,DFNB59
458466,2:179324018:A>G,NM_001042702.3:c.667+664A>G,\N,\N,5/6,Unknown significance,\N,intron_variant,9.56,0.001,1KG_SAS_AF,DFNB59
458467,2:179324025:C>T,NM_001042702.3:c.667+671C>T,\N,\N,5/6,Benign,\N,intron_variant,11.33,0.6567,1KG_EAS_AF,DFNB59
458468,2:179324033:T>C,NM_001042702.3:c.667+679T>C,\N,\N,5/6,Unknown significance,\N,intron_variant,5.393,\N,\N,DFNB59
458469,2:179324106:T>C,NM_001042702.3:c.667+752T>C,\N,\N,5/6,Benign,\N,intron_variant,1.523,0.025,1KG_AFR_AF,DFNB59
458470,2:179324119:T>C,NM_001042702.3:c.667+765T>C,\N,\N,5/6,Unknown significance,\N,intron_variant,2.323,0.0014,1KG_AMR_AF,DFNB59
458471,2:179324165:A>G,NM_001042702.3:c.667+811A>G,\N,\N,5/6,Unknown significance,\N,intron_variant,2.133,\N,\N,DFNB59
458472,2:179324170:A>G,NM_001042702.3:c.667+816A>G,\N,\N,5/6,Unknown significance,\N,intron_variant,0.162,0.0014,1KG_AMR_AF,DFNB59
458473,2:179324171:T>A,NM_001042702.3:c.667+817T>A,\N,\N,5/6,Unknown significance,\N,intron_variant,3.211,0.001,1KG_EAS_AF,DFNB59
458474,2:179324191:G>A,NM_001042702.3:c.667+837G>A,\N,\N,5/6,Benign,\N,intron_variant,0.023,0.1538,1KG_EAS_AF,DFNB59
458475,2:179324195:A>G,NM_001042702.3:c.667+841A>G,\N,\N,5/6,Unknown significance,\N,intron_variant,2.001,0.0008,1KG_AFR_AF,DFNB59
458476,2:179324241:C>T,NM_001042702.3:c.668-834C>T,\N,\N,5/6,Benign,\N,intron_variant,2.486,0.0099,1KG_EUR_AF,DFNB59
458477,2:179324263:T>TA,NM_001042702.3:c.668-811dup,\N,\N,5/6,Unknown significance,\N,intron_variant,\N,\N,\N,DFNB59
458478,2:179324289:A>C,NM_001042702.3:c.668-786A>C,\N,\N,5/6,Benign,\N,intron_variant,9.038,0.0113,1KG_AFR_AF,DFNB59
458479,2:179324302:T>G,NM_001042702.3:c.668-773T>G,\N,\N,5/6,Unknown significance,\N,intron_variant,11.72,0.001,1KG_SAS_AF,DFNB59
458480,2:179324316:G>C,NM_001042702.3:c.668-759G>C,\N,\N,5/6,Unknown significance,\N,intron_variant,9.433,\N,\N,DFNB59
458481,2:179324433:A>T,NM_001042702.3:c.668-642A>T,\N,\N,5/6,Unknown significance,\N,intron_variant,2.789,0.001,1KG_EUR_AF,DFNB59
458482,2:179324456:A>G,NM_001042702.3:c.668-619A>G,\N,\N,5/6,Unknown significance,\N,intron_variant,1.779,\N,\N,DFNB59
458483,2:179324460:A>G,NM_001042702.3:c.668-615A>G,\N,\N,5/6,Unknown significance,\N,intron_variant,1.52,0.0015,1KG_AFR_AF,DFNB59
458484,2:179324518:C>T,NM_001042702.3:c.668-557C>T,\N,\N,5/6,Unknown significance,\N,intron_variant,11.76,0.001,1KG_SAS_AF,DFNB59
458485,2:179324535:A>G,NM_001042702.3:c.668-540A>G,\N,\N,5/6,Unknown significance,\N,intron_variant,11.77,0.0029,1KG_AMR_AF,DFNB59
458486,2:179324602:G>A,NM_001042702.3:c.668-473G>A,\N,\N,5/6,Unknown significance,\N,intron_variant,3.125,\N,\N,DFNB59
458487,2:179324630:G>A,NM_001042702.3:c.668-445G>A,\N,\N,5/6,Unknown significance,\N,intron_variant,9.452,\N,\N,DFNB59
458488,2:179324731:A>G,NM_001042702.3:c.668-344A>G,\N,\N,5/6,Unknown significance,\N,intron_variant,5.483,0.0008,1KG_AFR_AF,DFNB59
458489,2:179324746:A>G,NM_001042702.3:c.668-329A>G,\N,\N,5/6,Unknown significance,\N,intron_variant,1.355,0.0023,1KG_AFR_AF,DFNB59
458490,2:179324753:T>C,NM_001042702.3:c.668-322T>C,\N,\N,5/6,Unknown significance,\N,intron_variant,1.273,0.001,1KG_EAS_AF,DFNB59
458491,2:179324761:C>T,NM_001042702.3:c.668-314C>T,\N,\N,5/6,Unknown significance,\N,intron_variant,4.096,\N,\N,DFNB59
458492,2:179324790:G>T,NM_001042702.3:c.668-285G>T,\N,\N,5/6,Benign,\N,intron_variant,0.96,0.0393,1KG_AFR_AF,DFNB59
458493,2:179324827:C>T,NM_001042702.3:c.668-248C>T,\N,\N,5/6,Unknown significance,\N,intron_variant,2.415,0.0008,1KG_AFR_AF,DFNB59
458494,2:179324843:C>G,NM_001042702.3:c.668-232C>G,\N,\N,5/6,Unknown significance,\N,intron_variant,1.275,\N,\N,DFNB59
458495,2:179324849:G>A,NM_001042702.3:c.668-226G>A,\N,\N,5/6,Unknown significance,\N,intron_variant,13.29,0.000314268,EVS_EA_AF,DFNB59
458496,2:179324850:T>C,NM_001042702.3:c.668-225T>C,\N,\N,5/6,Unknown significance,\N,intron_variant,13.93,\N,\N,DFNB59
458497,2:179324859:G>A,NM_001042702.3:c.668-216G>A,\N,\N,5/6,Unknown significance,\N,intron_variant,12.51,0.0015,1KG_AFR_AF,DFNB59
458498,2:179324861:G>A,NM_001042702.3:c.668-214G>A,\N,\N,5/6,Unknown significance,\N,intron_variant,5.526,0.001,1KG_EUR_AF,DFNB59
458499,2:179324865:G>A,NM_001042702.3:c.668-210G>A,\N,\N,5/6,Unknown significance,\N,intron_variant,4.317,\N,\N,DFNB59
458500,2:179324866:G>A,NM_001042702.3:c.668-209G>A,\N,\N,5/6,Unknown significance,\N,intron_variant,6.798,0.0008,1KG_AFR_AF,DFNB59
458501,2:179324903:C>G,NM_001042702.3:c.668-172C>G,\N,\N,5/6,Unknown significance,\N,intron_variant,3.707,0.0015,1KG_AFR_AF,DFNB59
458502,2:179324915:T>C,NM_001042702.3:c.668-160T>C,\N,\N,5/6,Unknown significance,\N,intron_variant,8.913,\N,\N,DFNB59
458503,2:179324948:A>G,NM_001042702.3:c.668-127A>G,\N,\N,5/6,Unknown significance,\N,intron_variant,5.517,\N,\N,DFNB59
458504,2:179324958:A>G,NM_001042702.3:c.668-117A>G,\N,\N,5/6,Unknown significance,\N,intron_variant,5.111,0.004,1KG_EUR_AF,DFNB59
458505,2:179324984:A>G,NM_001042702.3:c.668-91A>G,\N,\N,5/6,Unknown significance,\N,intron_variant,4.339,0.000314268,EVS_EA_AF,DFNB59
458506,2:179324995:G>T,NM_001042702.3:c.668-80G>T,\N,\N,5/6,Benign,\N,intron_variant,1.61,0.0741,1KG_AFR_AF,DFNB59
458507,2:179324999:T>C,NM_001042702.3:c.668-76T>C,\N,\N,5/6,Benign,\N,intron_variant,0.693,0.0184,1KG_SAS_AF,DFNB59
458508,2:179325030:A>T,NM_001042702.3:c.668-45A>T,\N,\N,5/6,Unknown significance,\N,intron_variant,2.608,0.0000334762,EXAC_NFE_AF,DFNB59
458509,2:179325039:TCAAG>T,NM_001042702.3:c.668-35_668-32del,\N,\N,5/6,Unknown significance,\N,intron_variant,10.62,0.00019544,EXAC_SAS_AF,DFNB59
458510,2:179325056:C>T,NM_001042702.3:c.668-19C>T,\N,\N,5/6,Unknown significance,\N,intron_variant,16.33,0.00012279,EVS_EA_AF,DFNB59
458511,2:179325058:A>G,NM_001042702.3:c.668-17A>G,\N,\N,5/6,Unknown significance,\N,intron_variant,16.61,0.000153894,EXAC_FIN_AF,DFNB59
458512,2:179325062:A>AT,NM_001042702.3:c.668-5dup,\N,\N,5/6,Unknown significance,\N,intron_variant,17.53,\N,\N,DFNB59
458513,2:179325062:AT>A,NM_001042702.3:c.668-5del,\N,\N,5/6,Unknown significance,\N,intron_variant,17.17,\N,\N,DFNB59
458514,2:179325066:T>G,NM_001042702.3:c.668-9T>G,\N,\N,5/6,Unknown significance,\N,intron_variant,18.66,0.000174155,EXAC_AMR_AF,DFNB59
458515,2:179325073:A>G,NM_001042702.3:c.668-2A>G,\N,\N,5/6,Unknown significance,\N,splice_acceptor_variant,25.5,0.000103114,EXAC_AFR_AF,DFNB59
458516,2:179325074:G>C,NM_001042702.3:c.668-1G>C,\N,\N,5/6,Unknown significance,\N,splice_acceptor_variant,25.7,\N,\N,DFNB59
458517,2:179325076:C>T,NM_001042702.3:c.669C>T,NP_001036167.1:p.Asp223=,6/7,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,13.58,0.0000605859,EXAC_NFE_AF,DFNB59
458518,2:179325078:T>G,NM_001042702.3:c.671T>G,NP_001036167.1:p.Leu224Arg,6/7,\N,Unknown significance,\N,missense_variant,29.3,0.000122639,EVS_EA_AF,DFNB59
458519,2:179325089:T>A,NM_001042702.3:c.682T>A,NP_001036167.1:p.Ser228Thr,6/7,\N,Likely benign,\N,missense_variant,19.56,0.000273823,EVS_AA_AF,DFNB59
458520,2:179325090:C>T,NM_001042702.3:c.683C>T,NP_001036167.1:p.Ser228Leu,6/7,\N,Unknown significance,\N,missense_variant,25.9,\N,\N,DFNB59
458521,2:179325110:G>C,NM_001042702.3:c.703G>C,NP_001036167.1:p.Glu235Gln,6/7,\N,Unknown significance,\N,missense_variant,27.4,0.0000605987,EXAC_SAS_AF,DFNB59
458522,2:179325122:A>G,NM_001042702.3:c.715A>G,NP_001036167.1:p.Thr239Ala,6/7,\N,Unknown significance,\N,missense_variant,13.23,0.000115955,EXAC_EAS_AF,DFNB59
458523,2:179325122:AC>A,NM_001042702.3:c.716del,NP_001036167.1:p.Thr239ArgfsTer10,6/7,\N,Unknown significance,\N,frameshift_variant,35,0.000115955,EXAC_EAS_AF,DFNB59
458524,2:179325123:C>T,NM_001042702.3:c.716C>T,NP_001036167.1:p.Thr239Met,6/7,\N,Unknown significance,\N,missense_variant,23.4,0.000244499,EVS_EA_AF,DFNB59
458525,2:179325124:G>A,NM_001042702.3:c.717G>A,NP_001036167.1:p.Thr239=,6/7,\N,Unknown significance,\N,synonymous_variant,14.76,0.0000605767,EXAC_SAS_AF,DFNB59
458526,2:179325130:A>G,NM_001042702.3:c.723A>G,NP_001036167.1:p.Thr241=,6/7,\N,Unknown significance,\N,synonymous_variant,5.373,\N,\N,DFNB59
458527,2:179325130:AT>A,NM_001042702.3:c.726del,NP_001036167.1:p.Phe242LeufsTer7,6/7,\N,Pathogenic,Progressive hearing loss| autosomal recessive,frameshift_variant,34,\N,\N,DFNB59
458528,2:179325138:T>G,NM_001042702.3:c.731T>G,NP_001036167.1:p.Leu244Arg,6/7,\N,Pathogenic,Progressive hearing loss| autosomal recessive,missense_variant,18.54,\N,\N,DFNB59
458529,2:179325142:G>C,NM_001042702.3:c.735G>C,NP_001036167.1:p.Leu245=,6/7,\N,Unknown significance,\N,synonymous_variant,8.609,0.001,1KG_SAS_AF,DFNB59
458530,2:179325151:G>A,NM_001042702.3:c.744G>A,NP_001036167.1:p.Leu248=,6/7,\N,Unknown significance,\N,synonymous_variant,10.5,0.00018184,EXAC_SAS_AF,DFNB59
458531,2:179325158:A>G,NM_001042702.3:c.751A>G,NP_001036167.1:p.Ile251Val,6/7,\N,Likely benign,\N,missense_variant,13.46,0.00081389,EVS_AA_AF,DFNB59
458532,2:179325161:C>G,NM_001042702.3:c.754C>G,NP_001036167.1:p.Leu252Val,6/7,\N,Likely benign,\N,missense_variant,19.5,0.000122429,EVS_EA_AF,DFNB59
458533,2:179325163:A>G,NM_001042702.3:c.756A>G,NP_001036167.1:p.Leu252=,6/7,\N,Unknown significance,\N,synonymous_variant,9.937,0.000232558,EXAC_EAS_AF,DFNB59
458534,2:179325167:G>A,NM_001042702.3:c.760G>A,NP_001036167.1:p.Glu254Lys,6/7,\N,Likely benign,\N,missense_variant,19.63,0.0000151085,EXAC_NFE_AF,DFNB59
458535,2:179325167:G>T,NM_001042702.3:c.760G>T,NP_001036167.1:p.Glu254Ter,6/7,\N,Unknown significance,\N,stop_gained,42,0.0000151085,EXAC_NFE_AF,DFNB59
458536,2:179325169:A>C,NM_001042702.3:c.762A>C,NP_001036167.1:p.Glu254Asp,6/7,\N,Likely benign,\N,missense_variant,12.59,0.0000866852,EXAC_AMR_AF,DFNB59
458537,2:179325173:A>C,NM_001042702.3:c.766A>C,NP_001036167.1:p.Asn256His,6/7,\N,Unknown significance,\N,missense_variant&splice_region_variant,23.2,0.0000151497,EXAC_NFE_AF,DFNB59
458538,2:179325177:T>C,NM_001042702.3:c.766+4T>C,\N,\N,6/6,Unknown significance,\N,splice_region_variant&intron_variant,12.45,0.0000303628,EXAC_NFE_AF,DFNB59
458539,2:179325177:T>G,NM_001042702.3:c.766+4T>G,\N,\N,6/6,Unknown significance,\N,splice_region_variant&intron_variant,13.72,0.0008,1KG_AFR_AF,DFNB59
458540,2:179325181:T>C,NM_001042702.3:c.766+8T>C,\N,\N,6/6,Benign,\N,splice_region_variant&intron_variant,7.581,0.0193178,EXAC_SAS_AF,DFNB59
458541,2:179325187:AG>A,NM_001042702.3:c.766+15del,\N,\N,6/6,Unknown significance,\N,intron_variant,5.882,\N,\N,DFNB59
458542,2:179325191:T>G,NM_001042702.3:c.766+18T>G,\N,\N,6/6,Unknown significance,\N,intron_variant,9.141,\N,\N,DFNB59
458543,2:179325195:G>A,NM_001042702.3:c.766+22G>A,\N,\N,6/6,Unknown significance,\N,intron_variant,1.041,0.0000617208,EXAC_SAS_AF,DFNB59
458544,2:179325197:G>A,NM_001042702.3:c.766+24G>A,\N,\N,6/6,Unknown significance,\N,intron_variant,4.05,0.0000618888,EXAC_SAS_AF,DFNB59
458545,2:179325203:C>CT,NM_001042702.3:c.766+40dup,\N,\N,6/6,Benign,\N,intron_variant,4.439,0.0332637,EXAC_AFR_AF,DFNB59
458546,2:179325203:CT>C,NM_001042702.3:c.766+40del,\N,\N,6/6,Benign,\N,intron_variant,1.846,0.0326819,EXAC_NFE_AF,DFNB59
458547,2:179325204:T>C,NM_001042702.3:c.766+31T>C,\N,\N,6/6,Benign,\N,intron_variant,0.193,0.0713575,EXAC_AFR_AF,DFNB59
458548,2:179325213:T>A,NM_001042702.3:c.766+40T>A,\N,\N,6/6,Unknown significance,\N,intron_variant,8.395,0.0000166257,EXAC_NFE_AF,DFNB59
458549,2:179325223:C>G,NM_001042702.3:c.766+50C>G,\N,\N,6/6,Unknown significance,\N,intron_variant,2.07,0.0000652571,EXAC_SAS_AF,DFNB59
458550,2:179325224:T>C,NM_001042702.3:c.766+51T>C,\N,\N,6/6,Unknown significance,\N,intron_variant,1.615,0.0000171397,EXAC_NFE_AF,DFNB59
458551,2:179325290:G>C,NM_001042702.3:c.766+117G>C,\N,\N,6/6,Benign,\N,intron_variant,1.675,0.0136,1KG_AFR_AF,DFNB59
458552,2:179325294:G>C,NM_001042702.3:c.766+121G>C,\N,\N,6/6,Unknown significance,\N,intron_variant,0.653,\N,\N,DFNB59
458553,2:179325331:A>G,NM_001042702.3:c.766+158A>G,\N,\N,6/6,Unknown significance,\N,intron_variant,12.09,0.0008,1KG_AFR_AF,DFNB59
458554,2:179325340:C>A,NM_001042702.3:c.766+167C>A,\N,\N,6/6,Unknown significance,\N,intron_variant,10.95,0.0008,1KG_AFR_AF,DFNB59
458555,2:179325351:C>G,NM_001042702.3:c.766+178C>G,\N,\N,6/6,Benign,\N,intron_variant,5.98,0.0184,1KG_SAS_AF,DFNB59
458556,2:179325356:A>C,NM_001042702.3:c.766+183A>C,\N,\N,6/6,Unknown significance,\N,intron_variant,0.472,0.0015,1KG_AFR_AF,DFNB59
458557,2:179325363:A>G,NM_001042702.3:c.766+190A>G,\N,\N,6/6,Unknown significance,\N,intron_variant,7.134,0.0008,1KG_AFR_AF,DFNB59
458558,2:179325378:G>C,NM_001042702.3:c.766+205G>C,\N,\N,6/6,Unknown significance,\N,intron_variant,3.489,\N,\N,DFNB59
458559,2:179325380:C>A,NM_001042702.3:c.766+207C>A,\N,\N,6/6,Unknown significance,\N,intron_variant,6.918,0.004,1KG_EAS_AF,DFNB59
458560,2:179325398:T>C,NM_001042702.3:c.766+225T>C,\N,\N,6/6,Unknown significance,\N,intron_variant,2.898,0.001,1KG_SAS_AF,DFNB59
458561,2:179325492:C>T,NM_001042702.3:c.767-217C>T,\N,\N,6/6,Unknown significance,\N,intron_variant,6.545,0.0014,1KG_AMR_AF,DFNB59
458562,2:179325498:C>T,NM_001042702.3:c.767-211C>T,\N,\N,6/6,Benign,\N,intron_variant,1.134,0.0348,1KG_AFR_AF,DFNB59
458563,2:179325507:C>T,NM_001042702.3:c.767-202C>T,\N,\N,6/6,Unknown significance,\N,intron_variant,0.707,\N,\N,DFNB59
458564,2:179325508:G>A,NM_001042702.3:c.767-201G>A,\N,\N,6/6,Benign,\N,intron_variant,0.044,0.0189,1KG_EUR_AF,DFNB59
458565,2:179325575:C>CA,NM_001042702.3:c.767-110dup,\N,\N,6/6,Unknown significance,\N,intron_variant,3.2,\N,\N,DFNB59
458566,2:179325575:C>T,NM_001042702.3:c.767-134C>T,\N,\N,6/6,Benign,\N,intron_variant,0.038,0.0083,1KG_AFR_AF,DFNB59
458567,2:179325575:CAAAAAAAAAAAAAAAA>C,NM_001042702.3:c.767-125_767-110del,\N,\N,6/6,Unknown significance,\N,intron_variant,\N,\N,\N,DFNB59
458568,2:179325607:T>G,NM_001042702.3:c.767-102T>G,\N,\N,6/6,Unknown significance,\N,intron_variant,1.933,0.0008,1KG_AFR_AF,DFNB59
458569,2:179325640:A>G,NM_001042702.3:c.767-69A>G,\N,\N,6/6,Benign,\N,intron_variant,2.49,0.0184,1KG_SAS_AF,DFNB59
458570,2:179325663:T>A,NM_001042702.3:c.767-46T>A,\N,\N,6/6,Unknown significance,\N,intron_variant,7.867,0.000102145,EXAC_AFR_AF,DFNB59
458571,2:179325669:T>C,NM_001042702.3:c.767-40T>C,\N,\N,6/6,Unknown significance,\N,intron_variant,6.238,0.000015002,EXAC_NFE_AF,DFNB59
458572,2:179325672:C>T,NM_001042702.3:c.767-37C>T,\N,\N,6/6,Unknown significance,\N,intron_variant,0.772,0.001,1KG_EUR_AF,DFNB59
458573,2:179325681:C>T,NM_001042702.3:c.767-28C>T,\N,\N,6/6,Unknown significance,\N,intron_variant,13.95,0.000116009,EXAC_EAS_AF,DFNB59
458574,2:179325686:C>G,NM_001042702.3:c.767-23C>G,\N,\N,6/6,Unknown significance,\N,intron_variant,11.89,0.0000149975,EXAC_NFE_AF,DFNB59
458575,2:179325699:G>C,NM_001042702.3:c.767-10G>C,\N,\N,6/6,Unknown significance,\N,intron_variant,13.6,0.000014993,EXAC_NFE_AF,DFNB59
458576,2:179325703:T>C,NM_001042702.3:c.767-6T>C,\N,\N,6/6,Unknown significance,\N,splice_region_variant&intron_variant,9.844,0.0000149925,EXAC_NFE_AF,DFNB59
458577,2:179325711:A>G,NM_001042702.3:c.769A>G,NP_001036167.1:p.Arg257Gly,7/7,\N,Unknown significance,\N,missense_variant&splice_region_variant,18.74,0.00012207,EVS_EA_AF,DFNB59
458578,2:179325713:A>G,NM_001042702.3:c.771A>G,NP_001036167.1:p.Arg257=,7/7,\N,Unknown significance,\N,synonymous_variant,2.67,0.001,1KG_EAS_AF,DFNB59
458579,2:179325720:A>G,NM_001042702.3:c.778A>G,NP_001036167.1:p.Met260Val,7/7,\N,Benign,\N,missense_variant,12.3,0.0104179,EXAC_SAS_AF,DFNB59
458580,2:179325735:C>G,NM_001042702.3:c.793C>G,NP_001036167.1:p.Arg265Gly,7/7,\N,Benign,\N,missense_variant,23.4,0.108333,OTO_ES_AF,DFNB59
458581,2:179325735:C>T,NM_001042702.3:c.793C>T,NP_001036167.1:p.Arg265Cys,7/7,\N,Benign,\N,missense_variant,34,0.0865,1KG_EUR_AF,DFNB59
458582,2:179325736:G>A,NM_001042702.3:c.794G>A,NP_001036167.1:p.Arg265His,7/7,\N,Benign,\N,missense_variant,15.33,0.005,OTO_TR_AF,DFNB59
458583,2:179325742:A>G,NM_001042702.3:c.800A>G,NP_001036167.1:p.Gln267Arg,7/7,\N,Unknown significance,\N,missense_variant,23.2,0.000267666,EVS_AA_AF,DFNB59
458584,2:179325746:T>A,NM_001042702.3:c.804T>A,NP_001036167.1:p.Leu268=,7/7,\N,Unknown significance,\N,synonymous_variant,9.974,0.000102041,EXAC_AFR_AF,DFNB59
458585,2:179325750:TTGGA>T,NM_001042702.3:c.811_814del,NP_001036167.1:p.Asp271IlefsTer13,7/7,\N,Unknown significance,\N,frameshift_variant,35,\N,\N,DFNB59
458586,2:179325754:A>G,NM_001042702.3:c.812A>G,NP_001036167.1:p.Asp271Gly,7/7,\N,Unknown significance,\N,missense_variant,32,0.0025,OTO_JP_AF,DFNB59
458587,2:179325759:C>CT,NM_001042702.3:c.823dup,NP_001036167.1:p.Ser275PhefsTer2,7/7,\N,Unknown significance,\N,frameshift_variant,\N,0.0000149849,EXAC_NFE_AF,DFNB59
458588,2:179325759:CT>C,NM_001042702.3:c.823del,NP_001036167.1:p.Ser275LeufsTer10,7/7,\N,Unknown significance,\N,frameshift_variant,34,0.0000299697,EXAC_NFE_AF,DFNB59
458589,2:179325768:G>A,NM_001042702.3:c.826G>A,NP_001036167.1:p.Asp276Asn,7/7,\N,Unknown significance,\N,missense_variant,32,0.000816327,EXAC_AFR_AF,DFNB59
458590,2:179325774:T>G,NM_001042702.3:c.832T>G,NP_001036167.1:p.Tyr278Asp,7/7,\N,Unknown significance,\N,missense_variant,29.7,0.0000863856,EXAC_AMR_AF,DFNB59
458591,2:179325775:A>G,NM_001042702.3:c.833A>G,NP_001036167.1:p.Tyr278Cys,7/7,\N,Unknown significance,\N,missense_variant,28.5,0.0000863856,EXAC_AMR_AF,DFNB59
458592,2:179325781:A>C,NM_001042702.3:c.839A>C,NP_001036167.1:p.Lys280Thr,7/7,\N,Unknown significance,\N,missense_variant,26.9,\N,\N,DFNB59
458593,2:179325783:C>T,NM_001042702.3:c.841C>T,NP_001036167.1:p.Pro281Ser,7/7,\N,Likely benign,\N,missense_variant,18.96,0.000121684,EVS_EA_AF,DFNB59
458594,2:179325784:C>G,NM_001042702.3:c.842C>G,NP_001036167.1:p.Pro281Arg,7/7,\N,Unknown significance,\N,missense_variant,23.5,0.0000149835,EXAC_NFE_AF,DFNB59
458595,2:179325792:A>G,NM_001042702.3:c.850A>G,NP_001036167.1:p.Met284Val,7/7,\N,Unknown significance,\N,missense_variant,22.7,0.001,1KG_SAS_AF,DFNB59
458596,2:179325796:C>T,NM_001042702.3:c.854C>T,NP_001036167.1:p.Thr285Ile,7/7,\N,Unknown significance,\N,missense_variant,27.7,0.0031,1KG_SAS_AF,DFNB59
458597,2:179325799:A>G,NM_001042702.3:c.857A>G,NP_001036167.1:p.Asp286Gly,7/7,\N,Unknown significance,\N,missense_variant,27.7,0.000666182,EXAC_SAS_AF,DFNB59
458598,2:179325803:T>A,NM_001042702.3:c.861T>A,NP_001036167.1:p.Ile287=,7/7,\N,Unknown significance,\N,synonymous_variant,12.62,0.000121124,EXAC_SAS_AF,DFNB59
458599,2:179325807:C>T,NM_001042702.3:c.865C>T,NP_001036167.1:p.Leu289Phe,7/7,\N,Likely benign,\N,missense_variant,22.3,0.0000149835,EXAC_NFE_AF,DFNB59
458600,2:179325809:CA>C,NM_001042702.3:c.870del,NP_001036167.1:p.Glu291LysfsTer46,7/7,\N,Unknown significance,\N,frameshift_variant,35,0.00010202,EXAC_AFR_AF,DFNB59
458601,2:179325816:G>A,NM_001042702.3:c.874G>A,NP_001036167.1:p.Gly292Arg,7/7,\N,Benign,\N,missense_variant,23,0.1875,OTO_JP_AF,DFNB59
458602,2:179325821:C>T,NM_001042702.3:c.879C>T,NP_001036167.1:p.Thr293=,7/7,\N,Unknown significance,\N,synonymous_variant,11.57,0.000115929,EXAC_EAS_AF,DFNB59
458603,2:179325823:A>G,NM_001042702.3:c.881A>G,NP_001036167.1:p.His294Arg,7/7,\N,Unknown significance,\N,missense_variant,25.9,0.0000149835,EXAC_NFE_AF,DFNB59
458604,2:179325828:C>T,NM_001042702.3:c.886C>T,NP_001036167.1:p.Arg296Ter,7/7,\N,Unknown significance,\N,stop_gained,42,0.000115929,EXAC_EAS_AF,DFNB59
458605,2:179325829:G>A,NM_001042702.3:c.887G>A,NP_001036167.1:p.Arg296Gln,7/7,\N,Unknown significance,\N,missense_variant,34,0.001,1KG_EAS_AF,DFNB59
458606,2:179325834:A>C,NM_001042702.3:c.892A>C,NP_001036167.1:p.Asn298His,7/7,\N,Unknown significance,\N,missense_variant,26.1,0.0000149835,EXAC_NFE_AF,DFNB59
458607,2:179325837:T>C,NM_001042702.3:c.895T>C,NP_001036167.1:p.Leu299=,7/7,\N,Unknown significance,\N,synonymous_variant,3.354,0.0000749176,EXAC_NFE_AF,DFNB59
458608,2:179325840:C>T,NM_001042702.3:c.898C>T,NP_001036167.1:p.Leu300Phe,7/7,\N,Unknown significance,\N,missense_variant,32,0.0000149835,EXAC_NFE_AF,DFNB59
458609,2:179325846:C>T,NM_001042702.3:c.904C>T,NP_001036167.1:p.His302Tyr,7/7,\N,Unknown significance,\N,missense_variant,23.8,0.0000863856,EXAC_AMR_AF,DFNB59
458610,2:179325862:G>A,NM_001042702.3:c.920G>A,NP_001036167.1:p.Gly307Glu,7/7,\N,Unknown significance,\N,missense_variant,30,0.0000863856,EXAC_AMR_AF,DFNB59
458611,2:179325871:TAC>T,NM_001042702.3:c.930_931del,NP_001036167.1:p.Cys312TrpfsTer19,7/7,\N,Pathogenic,Hearing loss| non-syndromic,frameshift_variant,\N,\N,\N,DFNB59
458612,2:179325874:T>C,NM_001042702.3:c.932T>C,NP_001036167.1:p.Leu311Pro,7/7,\N,Unknown significance,\N,missense_variant,27.6,0.0000149835,EXAC_NFE_AF,DFNB59
458613,2:179325877:G>C,NM_001042702.3:c.935G>C,NP_001036167.1:p.Cys312Ser,7/7,\N,Unknown significance,\N,missense_variant,27.4,0.0000863856,EXAC_AMR_AF,DFNB59
458614,2:179325888:A>C,NM_001042702.3:c.946A>C,NP_001036167.1:p.Asn316His,7/7,\N,Unknown significance,\N,missense_variant,15.63,0.00020404,EXAC_AFR_AF,DFNB59
458615,2:179325904:C>T,NM_001042702.3:c.962C>T,NP_001036167.1:p.Thr321Ile,7/7,\N,Unknown significance,\N,missense_variant,31,0.000121212,EVS_EA_AF,DFNB59
458616,2:179325912:G>T,NM_001042702.3:c.970G>T,NP_001036167.1:p.Gly324Trp,7/7,\N,Pathogenic,Hearing loss| non-syndromic| autosomal recessive,missense_variant,33,\N,\N,DFNB59
458617,2:179325917:C>A,NM_001042702.3:c.975C>A,NP_001036167.1:p.Cys325Ter,7/7,\N,Unknown significance,\N,stop_gained,37,0.0008,1KG_AFR_AF,DFNB59
458618,2:179325925:G>A,NM_001042702.3:c.983G>A,NP_001036167.1:p.Cys328Tyr,7/7,\N,Unknown significance,\N,missense_variant,28.5,\N,\N,DFNB59
458619,2:179325929:TG>T,NM_001042702.3:c.988del,NP_001036167.1:p.Val330LeufsTer7,7/7,\N,Pathogenic,Progressive hearing loss| autosomal recessive,frameshift_variant,35,\N,\N,DFNB59
458620,2:179325935:T>C,NM_001042702.3:c.993T>C,NP_001036167.1:p.Asp331=,7/7,\N,Unknown significance,\N,synonymous_variant,2.02,0.000060562,EXAC_SAS_AF,DFNB59
458621,2:179325936:G>A,NM_001042702.3:c.994G>A,NP_001036167.1:p.Gly332Ser,7/7,\N,Unknown significance,\N,missense_variant,31,0.0000149849,EXAC_NFE_AF,DFNB59
458622,2:179325952:G>A,NM_001042702.3:c.1010G>A,NP_001036167.1:p.Arg337Lys,7/7,\N,Unknown significance,\N,missense_variant,31,\N,\N,DFNB59
458623,2:179325952:G>T,NM_001042702.3:c.1010G>T,NP_001036167.1:p.Arg337Ile,7/7,\N,Unknown significance,\N,missense_variant,33,0.0000149903,EXAC_NFE_AF,DFNB59
458624,2:179325960:G>A,NM_001042702.3:c.1018G>A,NP_001036167.1:p.Ala340Thr,7/7,\N,Unknown significance,\N,missense_variant,29.3,0.000060562,EXAC_SAS_AF,DFNB59
458625,2:179325963:G>A,NM_001042702.3:c.1021G>A,NP_001036167.1:p.Val341Ile,7/7,\N,Unknown significance,\N,missense_variant,28.5,0.000014997,EXAC_NFE_AF,DFNB59
458626,2:179325970:G>C,NM_001042702.3:c.1028G>C,NP_001036167.1:p.Cys343Ser,7/7,\N,Pathogenic,Progressive hearing loss,missense_variant,26.9,0.002,1KG_SAS_AF,DFNB59
458627,2:179325976:A>G,NM_001042702.3:c.1034A>G,NP_001036167.1:p.Asp345Gly,7/7,\N,Unknown significance,\N,missense_variant,29,0.000204207,EXAC_AFR_AF,DFNB59
458628,2:179325992:G>C,NM_001042702.3:c.1050G>C,NP_001036167.1:p.Arg350Ser,7/7,\N,Likely benign,\N,missense_variant,12.47,0.0000605914,EXAC_SAS_AF,DFNB59
458629,2:179326003:A>C,NM_001042702.3:c.*2A>C,\N,7/7,\N,Benign,\N,3_prime_UTR_variant,11.31,0.0174257,EXAC_EAS_AF,DFNB59
458630,2:179326010:A>G,NM_001042702.3:c.*9A>G,\N,7/7,\N,Unknown significance,\N,3_prime_UTR_variant,4.964,0.0000150498,EXAC_NFE_AF,DFNB59
458631,2:179326020:C>T,NM_001042702.3:c.*19C>T,\N,7/7,\N,Unknown significance,\N,3_prime_UTR_variant,3.307,0.000121832,EVS_EA_AF,DFNB59
458632,2:179326021:G>A,NM_001042702.3:c.*20G>A,\N,7/7,\N,Benign,\N,3_prime_UTR_variant,0.399,0.005,OTO_JP_AF,DFNB59
458633,2:179326029:GT>G,NM_001042702.3:c.*32del,\N,7/7,\N,Unknown significance,\N,3_prime_UTR_variant,6.316,0.0000606208,EXAC_SAS_AF,DFNB59
458634,2:179326033:TA>T,NM_001042702.3:c.*33del,\N,7/7,\N,Unknown significance,\N,3_prime_UTR_variant,7.493,0.0000150934,EXAC_NFE_AF,DFNB59
458635,2:179326035:G>C,NM_001042702.3:c.*34G>C,\N,7/7,\N,Unknown significance,\N,3_prime_UTR_variant,1.629,0.00034965,EXAC_EAS_AF,DFNB59
458636,2:179326040:A>C,NM_001042702.3:c.*39A>C,\N,7/7,\N,Unknown significance,\N,3_prime_UTR_variant,0.336,0.0000151012,EXAC_NFE_AF,DFNB59
458637,2:179326041:G>C,NM_001042702.3:c.*40G>C,\N,7/7,\N,Unknown significance,\N,3_prime_UTR_variant,2.223,0.00111607,EXAC_OTH_AF,DFNB59
458638,2:179326052:A>G,NM_001042702.3:c.*51A>G,\N,7/7,\N,Unknown significance,\N,3_prime_UTR_variant,5.939,0.0000151281,EXAC_NFE_AF,DFNB59
458639,2:179326067:A>G,NM_001042702.3:c.*66A>G,\N,7/7,\N,Unknown significance,\N,3_prime_UTR_variant,9.781,0.001,1KG_EUR_AF,DFNB59
458640,2:179326071:AGGTTT>A,NM_001042702.3:c.*72_*76del,\N,7/7,\N,Unknown significance,\N,3_prime_UTR_variant,\N,\N,\N,DFNB59
458641,2:179326073:GTTTGC>G,NM_001042702.3:c.*77_*81del,\N,7/7,\N,Benign,\N,3_prime_UTR_variant,9.179,0.0716,1KG_SAS_AF,DFNB5