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
416781,19:36494017:C>A,NM_001039876.1:c.*222G>T,\N,8/8,\N,Unknown significance,\N,3_prime_UTR_variant,2.882,\N,\N,SYNE4
416782,19:36494033:T>A,NM_001039876.1:c.*206A>T,\N,8/8,\N,Unknown significance,\N,3_prime_UTR_variant,5.688,\N,\N,SYNE4
416783,19:36494038:C>T,NM_001039876.1:c.*201G>A,\N,8/8,\N,Unknown significance,\N,3_prime_UTR_variant,4.72,0.003,1KG_EUR_AF,SYNE4
416784,19:36494066:CTT>C,NM_001039876.1:c.*171_*172del,\N,8/8,\N,Unknown significance,\N,3_prime_UTR_variant,6.883,\N,\N,SYNE4
416785,19:36494075:A>C,NM_001039876.1:c.*164T>G,\N,8/8,\N,Unknown significance,\N,3_prime_UTR_variant,2.068,\N,\N,SYNE4
416786,19:36494081:T>C,NM_001039876.1:c.*158A>G,\N,8/8,\N,Unknown significance,\N,3_prime_UTR_variant,3.196,\N,\N,SYNE4
416787,19:36494097:A>T,NM_001039876.1:c.*142T>A,\N,8/8,\N,Unknown significance,\N,3_prime_UTR_variant,2.53,\N,\N,SYNE4
416788,19:36494100:A>T,NM_001039876.1:c.*139T>A,\N,8/8,\N,Unknown significance,\N,3_prime_UTR_variant,6.538,0.00069541,EXAC_FIN_AF,SYNE4
416789,19:36494102:G>A,NM_001039876.1:c.*137C>T,\N,8/8,\N,Unknown significance,\N,3_prime_UTR_variant,6.583,0.00100806,EXAC_AFR_AF,SYNE4
416790,19:36494118:G>A,NM_001039876.1:c.*121C>T,\N,8/8,\N,Unknown significance,\N,3_prime_UTR_variant,3.081,0.0014,1KG_AMR_AF,SYNE4
416791,19:36494128:C>T,NM_001039876.1:c.*111G>A,\N,8/8,\N,Unknown significance,\N,3_prime_UTR_variant,3.359,0.00230947,EXAC_FIN_AF,SYNE4
416792,19:36494159:C>G,NM_001039876.1:c.*80G>C,\N,8/8,\N,Unknown significance,\N,3_prime_UTR_variant,1.203,0.000249252,EXAC_SAS_AF,SYNE4
416793,19:36494171:T>A,NM_001039876.1:c.*68A>T,\N,8/8,\N,Unknown significance,\N,3_prime_UTR_variant,4.182,0.000261233,EXAC_AFR_AF,SYNE4
416794,19:36494178:C>T,NM_001039876.1:c.*61G>A,\N,8/8,\N,Unknown significance,\N,3_prime_UTR_variant,1.82,0.0000912575,EXAC_NFE_AF,SYNE4
416795,19:36494181:G>T,NM_001039876.1:c.*58C>A,\N,8/8,\N,Unknown significance,\N,3_prime_UTR_variant,1.215,0.000481232,EXAC_AMR_AF,SYNE4
416796,19:36494183:A>T,NM_001039876.1:c.*56T>A,\N,8/8,\N,Unknown significance,\N,3_prime_UTR_variant,0.795,0.0000359635,EXAC_NFE_AF,SYNE4
416797,19:36494194:T>A,NM_001039876.1:c.*45A>T,\N,8/8,\N,Unknown significance,\N,3_prime_UTR_variant,1.822,0.000103093,EXAC_NFE_AF,SYNE4
416798,19:36494194:T>C,NM_001039876.1:c.*45A>G,\N,8/8,\N,Unknown significance,\N,3_prime_UTR_variant,0.425,0.0000257732,EXAC_NFE_AF,SYNE4
416799,19:36494195:A>G,NM_001039876.1:c.*44T>C,\N,8/8,\N,Benign,\N,3_prime_UTR_variant,1.309,0.0300546,EXAC_AFR_AF,SYNE4
416800,19:36494204:A>G,NM_001039876.2:c.*35T>C,\N,8/8,\N,Unknown significance,\N,3_prime_UTR_variant,3.683,0.0000211104,EXAC_NFE_AF,SYNE4
416801,19:36494212:T>G,NM_001039876.2:c.*27A>C,\N,8/8,\N,Unknown significance,\N,3_prime_UTR_variant,4.04,0.0008,1KG_AFR_AF,SYNE4
416802,19:36494218:A>G,NM_001039876.2:c.*21T>C,\N,8/8,\N,Unknown significance,\N,3_prime_UTR_variant,7.899,0.000227066,EXAC_AMR_AF,SYNE4
416803,19:36494223:C>T,NM_001039876.2:c.*16G>A,\N,8/8,\N,Unknown significance,\N,3_prime_UTR_variant,9.848,0.000211775,EXAC_AMR_AF,SYNE4
416804,19:36494225:A>T,NM_001039876.2:c.*14T>A,\N,8/8,\N,Likely benign,\N,3_prime_UTR_variant,8.612,0.00010305,EXAC_AMR_AF,SYNE4
416805,19:36494234:A>G,NM_001039876.2:c.*5T>C,\N,8/8,\N,Benign,\N,3_prime_UTR_variant,6.255,0.0083,1KG_AFR_AF,SYNE4
416806,19:36494237:C>T,NM_001039876.2:c.*2G>A,\N,8/8,\N,Likely benign,\N,3_prime_UTR_variant,5.386,0.0000159144,EXAC_NFE_AF,SYNE4
416807,19:36494242:G>A,NM_001039876.2:c.1212C>T,NP_001034965.1:p.Val404=,8/8,\N,Unknown significance,\N,synonymous_variant,11.17,0.0000645411,EXAC_SAS_AF,SYNE4
416808,19:36494245:T>G,NM_001039876.2:c.1209A>C,NP_001034965.1:p.Pro403=,8/8,\N,Unknown significance,\N,synonymous_variant,10.68,0.0000642426,EXAC_SAS_AF,SYNE4
416809,19:36494246:G>A,NM_001039876.2:c.1208C>T,NP_001034965.1:p.Pro403Leu,8/8,\N,Unknown significance,\N,missense_variant,32,0.001,1KG_EAS_AF,SYNE4
416810,19:36494248:G>T,NM_001039876.2:c.1206C>A,NP_001034965.1:p.Pro402=,8/8,\N,Likely benign,\N,synonymous_variant,11.25,0.000104603,EXAC_AFR_AF,SYNE4
416811,19:36494255:C>T,NM_001039876.2:c.1199G>A,NP_001034965.1:p.Gly400Asp,8/8,\N,Unknown significance,\N,missense_variant,33,0.000118765,EXAC_EAS_AF,SYNE4
416812,19:36494257:A>G,NM_001039876.2:c.1197T>C,NP_001034965.1:p.Asn399=,8/8,\N,Unknown significance,\N,synonymous_variant,8.653,0.0000631154,EXAC_SAS_AF,SYNE4
416813,19:36494258:T>C,NM_001039876.2:c.1196A>G,NP_001034965.1:p.Asn399Ser,8/8,\N,Unknown significance,\N,missense_variant,26.4,0.000119104,EVS_EA_AF,SYNE4
416814,19:36494264:T>C,NM_001039876.2:c.1190A>G,NP_001034965.1:p.Tyr397Cys,8/8,\N,Unknown significance,\N,missense_variant,28.1,0.000125471,EXAC_SAS_AF,SYNE4
416815,19:36494278:G>C,NM_001039876.2:c.1176C>G,NP_001034965.1:p.Tyr392Ter,8/8,\N,Unknown significance,\N,stop_gained,42,0.000118036,EXAC_EAS_AF,SYNE4
416816,19:36494282:G>A,NM_001039876.2:c.1172C>T,NP_001034965.1:p.Pro391Leu,8/8,\N,Unknown significance,\N,missense_variant,27.1,0.000103993,EXAC_AFR_AF,SYNE4
416817,19:36494297:C>G,NM_001039876.2:c.1157G>C,NP_001034965.1:p.Arg386Pro,8/8,\N,Likely benign,\N,missense_variant,24.5,0.000418673,EXAC_AFR_AF,SYNE4
416818,19:36494297:C>T,NM_001039876.2:c.1157G>A,NP_001034965.1:p.Arg386Gln,8/8,\N,Likely benign,\N,missense_variant,23.3,0.0023,1KG_AFR_AF,SYNE4
416819,19:36494298:G>A,NM_001039876.2:c.1156C>T,NP_001034965.1:p.Arg386Ter,8/8,\N,Unknown significance,\N,stop_gained,36,0.0000630517,EXAC_SAS_AF,SYNE4
416820,19:36494313:A>G,NM_001039876.2:c.1141T>C,NP_001034965.1:p.Cys381Arg,8/8,\N,Unknown significance,\N,missense_variant,24.1,\N,\N,SYNE4
416821,19:36494317:G>A,NM_001039876.2:c.1137C>T,NP_001034965.1:p.Gly379=,8/8,\N,Likely benign,\N,synonymous_variant,2.828,0.0000158403,EXAC_NFE_AF,SYNE4
416822,19:36494317:G>T,NM_001039876.2:c.1137C>A,NP_001034965.1:p.Gly379=,8/8,\N,Likely benign,\N,synonymous_variant,0.677,0.0000944644,EXAC_AMR_AF,SYNE4
416823,19:36494321:C>T,NM_001039876.2:c.1133G>A,NP_001034965.1:p.Gly378Glu,8/8,\N,Unknown significance,\N,missense_variant,23.7,0.0000159246,EXAC_NFE_AF,SYNE4
416824,19:36494322:C>T,NM_001039876.2:c.1132G>A,NP_001034965.1:p.Gly378Arg,8/8,\N,Unknown significance,\N,missense_variant,25.8,0.000976139,EXAC_AFR_AF,SYNE4
416825,19:36494326:C>T,NM_001039876.2:c.1128G>A,NP_001034965.1:p.Ala376=,8/8,\N,Likely benign,\N,synonymous_variant,13.53,0.000457995,EXAC_SAS_AF,SYNE4
416826,19:36494327:G>A,NM_001039876.2:c.1127C>T,NP_001034965.1:p.Ala376Val,8/8,\N,Likely benign,\N,missense_variant,0.007,0.001,1KG_EUR_AF,SYNE4
416827,19:36494328:C>T,NM_001039876.2:c.1126G>A,NP_001034965.1:p.Ala376Thr,8/8,\N,Likely benign,\N,missense_variant,0.289,0.002,1KG_EAS_AF,SYNE4
416828,19:36494329:G>A,NM_001039876.2:c.1125C>T,NP_001034965.1:p.Pro375=,8/8,\N,Unknown significance,\N,synonymous_variant,7.578,0.00302115,EXAC_SAS_AF,SYNE4
416829,19:36494330:G>A,NM_001297735.2:c.785C>T,NP_001284664.1:p.Pro262Leu,6/6,\N,Unknown significance,\N,missense_variant,24.7,0.0000657895,EXAC_SAS_AF,SYNE4
416830,19:36494335:G>A,NM_001039876.2:c.1119C>T,NP_001034965.1:p.Leu373=,8/8,\N,Unknown significance,\N,synonymous_variant,2.255,0.000119732,EVS_EA_AF,SYNE4
416831,19:36494352:C>T,NM_001297735.2:c.763G>A,NP_001284664.1:p.Val255Met,6/6,\N,Benign,\N,missense_variant,24.1,0.00663036,EXAC_AFR_AF,SYNE4
416832,19:36494355:G>A,NM_001039876.2:c.1099C>T,NP_001034965.1:p.Leu367=,8/8,\N,Unknown significance,\N,synonymous_variant,3.835,0.0000178234,EXAC_NFE_AF,SYNE4
416833,19:36494355:G>GGAGGAGGAA,NM_001039876.2:c.1090_1098dup,NP_001034965.1:p.Phe364_Leu366dup,8/8,\N,Unknown significance,\N,inframe_insertion,\N,0.00127083,EXAC_EAS_AF,SYNE4
416834,19:36494355:GGAGGAGGAA>G,NM_001039876.2:c.1090_1098del,NP_001034965.1:p.Phe364_Leu366del,8/8,\N,Unknown significance,\N,inframe_deletion,8.775,0.000489374,EXAC_SAS_AF,SYNE4
416835,19:36494361:G>A,NM_001039876.2:c.1093C>T,NP_001034965.1:p.Leu365Phe,8/8,\N,Likely benign,\N,missense_variant,16.81,0.000377358,EXAC_AMR_AF,SYNE4
416836,19:36494374:G>C,NM_001039876.2:c.1080C>G,NP_001034965.1:p.Leu360=,8/8,\N,Likely benign,\N,synonymous_variant,0.759,0.0000197504,EXAC_NFE_AF,SYNE4
416837,19:36494376:G>A,NM_001039876.2:c.1078C>T,NP_001034965.1:p.Leu360Phe,8/8,\N,Likely benign,\N,missense_variant,13.1,0.000243784,EVS_AA_AF,SYNE4
416838,19:36494376:G>T,NM_001039876.2:c.1078C>A,NP_001034965.1:p.Leu360Ile,8/8,\N,Benign,\N,missense_variant,19.03,0.0119,1KG_EAS_AF,SYNE4
416839,19:36494415:C>T,NM_001039876.2:c.1039G>A,NP_001034965.1:p.Asp347Asn,8/8,\N,Likely benign,\N,missense_variant,21.1,0.00163934,EXAC_OTH_AF,SYNE4
416840,19:36494423:C>T,NM_001039876.2:c.1032-1G>A,\N,\N,7/7,Unknown significance,\N,splice_acceptor_variant,22.9,\N,\N,SYNE4
416841,19:36494424:T>A,NM_001039876.2:c.1032-2A>T,\N,\N,7/7,Unknown significance,\N,splice_acceptor_variant,21.3,0.000119617,EVS_EA_AF,SYNE4
416842,19:36494429:A>G,NM_001039876.2:c.1032-7T>C,\N,\N,7/7,Unknown significance,\N,splice_region_variant&intron_variant,13.56,0.000087321,EXAC_SAS_AF,SYNE4
416843,19:36494436:T>C,NM_001039876.2:c.1032-14A>G,\N,\N,7/7,Unknown significance,\N,intron_variant,13.22,0.0000757614,EXAC_NFE_AF,SYNE4
416844,19:36494438:C>T,NM_001039876.2:c.1032-16G>A,\N,\N,7/7,Unknown significance,\N,intron_variant,14.74,0.0000513136,EXAC_NFE_AF,SYNE4
416845,19:36494445:AAAC>A,NM_001039876.2:c.1032-26_1032-24del,\N,\N,7/7,Unknown significance,\N,intron_variant,12.31,\N,\N,SYNE4
416846,19:36494446:A>T,NM_001039876.2:c.1032-24T>A,\N,\N,7/7,Unknown significance,\N,intron_variant,13.57,0.001,1KG_EUR_AF,SYNE4
416847,19:36494450:T>C,NM_001039876.2:c.1032-28A>G,\N,\N,7/7,Unknown significance,\N,intron_variant,10.03,0.0000499351,EXAC_NFE_AF,SYNE4
416848,19:36494450:T>TGTTTA,NM_001039876.2:c.1032-29_1032-28insTAAAC,\N,\N,7/7,Unknown significance,\N,intron_variant,9.018,0.0000249675,EXAC_NFE_AF,SYNE4
416849,19:36494452:C>T,NM_001039876.2:c.1032-30G>A,\N,\N,7/7,Unknown significance,\N,intron_variant,6.113,\N,\N,SYNE4
416850,19:36494480:C>T,NM_001039876.2:c.1031+35G>A,\N,\N,7/7,Unknown significance,\N,intron_variant,6.193,0.002,1KG_EAS_AF,SYNE4
416851,19:36494491:A>C,NM_001039876.2:c.1031+24T>G,\N,\N,7/7,Unknown significance,\N,intron_variant,3.233,\N,\N,SYNE4
416852,19:36494492:G>A,NM_001039876.2:c.1031+23C>T,\N,\N,7/7,Unknown significance,\N,intron_variant,4.291,0.000143678,EXAC_EAS_AF,SYNE4
416853,19:36494495:C>T,NM_001039876.2:c.1031+20G>A,\N,\N,7/7,Unknown significance,\N,intron_variant,4.507,\N,\N,SYNE4
416854,19:36494496:C>A,NM_001039876.2:c.1031+19G>T,\N,\N,7/7,Unknown significance,\N,intron_variant,4.971,0.00011534,EXAC_AMR_AF,SYNE4
416855,19:36494509:C>T,NM_001039876.2:c.1031+6G>A,\N,\N,7/7,Unknown significance,\N,splice_region_variant&intron_variant,5.899,0.000305483,EXAC_SAS_AF,SYNE4
416856,19:36494511:T>G,NM_001039876.2:c.1031+4A>C,\N,\N,7/7,Unknown significance,\N,splice_region_variant&intron_variant,9.299,0.000130617,EXAC_EAS_AF,SYNE4
416857,19:36494521:T>C,NM_001039876.2:c.1025A>G,NP_001034965.1:p.Asn342Ser,7/8,\N,Unknown significance,\N,missense_variant,19.08,0.00179721,EXAC_SAS_AF,SYNE4
416858,19:36494526:C>T,NM_001039876.2:c.1020G>A,NP_001034965.1:p.Glu340=,7/8,\N,Unknown significance,\N,synonymous_variant,8.648,0.004,1KG_EUR_AF,SYNE4
416859,19:36494533:C>T,NM_001039876.2:c.1013G>A,NP_001034965.1:p.Arg338Lys,7/8,\N,Likely benign,\N,missense_variant,10.48,0.0008,1KG_AFR_AF,SYNE4
416860,19:36494549:G>A,NM_001039876.2:c.997C>T,NP_001034965.1:p.His333Tyr,7/8,\N,Likely benign,\N,missense_variant,3.072,0.0000173587,EXAC_NFE_AF,SYNE4
416861,19:36494551:G>A,NM_001039876.2:c.995C>T,NP_001034965.1:p.Pro332Leu,7/8,\N,Likely benign,\N,missense_variant,23.8,0.000197863,EXAC_FIN_AF,SYNE4
416862,19:36494552:G>A,NM_001039876.2:c.994C>T,NP_001034965.1:p.Pro332Ser,7/8,\N,Likely benign,\N,missense_variant,13.28,\N,\N,SYNE4
416863,19:36494556:T>C,NM_001039876.2:c.990A>G,NP_001034965.1:p.Ala330=,7/8,\N,Likely benign,\N,synonymous_variant,1.68,0.000417188,EXAC_AMR_AF,SYNE4
416864,19:36494558:C>T,NM_001039876.2:c.988G>A,NP_001034965.1:p.Ala330Thr,7/8,\N,Likely benign,\N,missense_variant,23.1,0.000119962,EVS_EA_AF,SYNE4
416865,19:36494562:C>G,NM_001297735.2:c.645G>C,NP_001284664.1:p.Arg215Ser,5/6,\N,Likely benign,\N,missense_variant,24.1,0.000381874,EXAC_EAS_AF,SYNE4
416866,19:36494563:CTCT>C,NM_001039876.2:c.980_982del,NP_001034965.1:p.Lys327del,7/8,\N,Unknown significance,\N,inframe_deletion,19.94,0.0000178088,EXAC_NFE_AF,SYNE4
416867,19:36494568:C>T,NM_001039876.2:c.978G>A,NP_001034965.1:p.Lys326=,7/8,\N,Unknown significance,\N,synonymous_variant,16.71,\N,\N,SYNE4
416868,19:36494577:A>T,NM_001039876.2:c.973-4T>A,\N,\N,6/7,Unknown significance,\N,splice_region_variant&intron_variant,10.47,0.000037143,EXAC_NFE_AF,SYNE4
416869,19:36494582:G>A,NM_001039876.2:c.973-9C>T,\N,\N,6/7,Unknown significance,\N,intron_variant,3.741,0.0000783085,EXAC_SAS_AF,SYNE4
416870,19:36494607:T>A,NM_001039876.2:c.973-34A>T,\N,\N,6/7,Unknown significance,\N,intron_variant,5.487,0.000404531,EXAC_AMR_AF,SYNE4
416871,19:36494613:T>C,NM_001039876.2:c.973-40A>G,\N,\N,6/7,Unknown significance,\N,intron_variant,0.802,0.0000884799,EXAC_SAS_AF,SYNE4
416872,19:36494614:G>T,NM_001039876.2:c.973-41C>A,\N,\N,6/7,Unknown significance,\N,intron_variant,0.574,0.0000235195,EXAC_NFE_AF,SYNE4
416873,19:36494618:CTTTA>C,NM_001039876.2:c.973-49_973-46del,\N,\N,6/7,Unknown significance,\N,intron_variant,6.105,\N,\N,SYNE4
416874,19:36494635:T>C,NM_001039876.2:c.973-62A>G,\N,\N,6/7,Unknown significance,\N,intron_variant,0.453,0.001,1KG_SAS_AF,SYNE4
416875,19:36494644:G>A,NM_001039876.2:c.973-71C>T,\N,\N,6/7,Unknown significance,\N,intron_variant,0.034,0.001,1KG_EUR_AF,SYNE4
416876,19:36494655:C>T,NM_001039876.2:c.973-82G>A,\N,\N,6/7,Unknown significance,\N,intron_variant,0.189,0.0023,1KG_AFR_AF,SYNE4
416877,19:36494666:C>T,NM_001039876.2:c.973-93G>A,\N,\N,6/7,Unknown significance,\N,intron_variant,0.432,0.0014,1KG_AMR_AF,SYNE4
416878,19:36494681:G>A,NM_001039876.2:c.973-108C>T,\N,\N,6/7,Unknown significance,\N,intron_variant,2.727,\N,\N,SYNE4
416879,19:36494708:G>C,NM_001039876.2:c.973-135C>G,\N,\N,6/7,Unknown significance,\N,intron_variant,0.051,0.001,1KG_SAS_AF,SYNE4
416880,19:36494712:C>G,NM_001039876.2:c.973-139G>C,\N,\N,6/7,Benign,\N,intron_variant,1.227,0.0198,1KG_EAS_AF,SYNE4
416881,19:36494746:C>T,NM_001039876.2:c.973-173G>A,\N,\N,6/7,Unknown significance,\N,intron_variant,0.389,\N,\N,SYNE4
416882,19:36494747:G>A,NM_001039876.2:c.973-174C>T,\N,\N,6/7,Unknown significance,\N,intron_variant,2.081,0.001,1KG_SAS_AF,SYNE4
416883,19:36494764:G>A,NM_001039876.2:c.973-191C>T,\N,\N,6/7,Unknown significance,\N,intron_variant,2.019,0.001,1KG_EUR_AF,SYNE4
416884,19:36494765:G>C,NM_001039876.2:c.973-192C>G,\N,\N,6/7,Unknown significance,\N,intron_variant,0.28,\N,\N,SYNE4
416885,19:36494818:A>G,NM_001039876.2:c.973-245T>C,\N,\N,6/7,Unknown significance,\N,intron_variant,2.992,\N,\N,SYNE4
416886,19:36494844:C>T,NM_001039876.2:c.973-271G>A,\N,\N,6/7,Benign,\N,intron_variant,6.298,0.025,1KG_AFR_AF,SYNE4
416887,19:36494859:C>G,NM_001039876.2:c.973-286G>C,\N,\N,6/7,Unknown significance,\N,intron_variant,4.466,\N,\N,SYNE4
416888,19:36494867:C>T,NM_001039876.2:c.973-294G>A,\N,\N,6/7,Unknown significance,\N,intron_variant,0.498,0.001,1KG_SAS_AF,SYNE4
416889,19:36494872:C>T,NM_001039876.2:c.973-299G>A,\N,\N,6/7,Unknown significance,\N,intron_variant,1.821,0.003,1KG_EUR_AF,SYNE4
416890,19:36494917:C>G,NM_001039876.2:c.973-344G>C,\N,\N,6/7,Unknown significance,\N,intron_variant,0.379,0.001,1KG_EUR_AF,SYNE4
416891,19:36494918:G>A,NM_001039876.2:c.973-345C>T,\N,\N,6/7,Unknown significance,\N,intron_variant,2.224,0.001,1KG_EAS_AF,SYNE4
416892,19:36494998:C>A,NM_001039876.2:c.973-425G>T,\N,\N,6/7,Unknown significance,\N,intron_variant,4.664,0.0008,1KG_AFR_AF,SYNE4
416893,19:36495007:C>T,NM_001039876.2:c.973-434G>A,\N,\N,6/7,Unknown significance,\N,intron_variant,6.605,0.0015,1KG_AFR_AF,SYNE4
416894,19:36495010:A>C,NM_001039876.2:c.973-437T>G,\N,\N,6/7,Unknown significance,\N,intron_variant,5.666,0.003,1KG_AFR_AF,SYNE4
416895,19:36495031:C>G,NM_001039876.2:c.973-458G>C,\N,\N,6/7,Unknown significance,\N,intron_variant,11.2,0.002,1KG_SAS_AF,SYNE4
416896,19:36495055:C>T,NM_001039876.2:c.973-482G>A,\N,\N,6/7,Unknown significance,\N,intron_variant,10.09,\N,\N,SYNE4
416897,19:36495079:T>G,NM_001039876.2:c.973-506A>C,\N,\N,6/7,Benign,\N,intron_variant,1.85,0.0968,1KG_AFR_AF,SYNE4
416898,19:36495107:G>T,NM_001039876.2:c.973-534C>A,\N,\N,6/7,Unknown significance,\N,intron_variant,0.626,0.001,1KG_EAS_AF,SYNE4
416899,19:36495124:C>T,NM_001039876.2:c.973-551G>A,\N,\N,6/7,Unknown significance,\N,intron_variant,7.417,0.0045,1KG_AFR_AF,SYNE4
416900,19:36495162:C>T,NM_001039876.2:c.973-589G>A,\N,\N,6/7,Unknown significance,\N,intron_variant,3.481,\N,\N,SYNE4
416901,19:36495171:T>C,NM_001039876.2:c.973-598A>G,\N,\N,6/7,Unknown significance,\N,intron_variant,2.382,\N,\N,SYNE4
416902,19:36495174:C>T,NM_001039876.2:c.973-601G>A,\N,\N,6/7,Unknown significance,\N,intron_variant,3.939,\N,\N,SYNE4
416903,19:36495184:C>T,NM_001039876.2:c.973-611G>A,\N,\N,6/7,Unknown significance,\N,intron_variant,5.638,0.0008,1KG_AFR_AF,SYNE4
416904,19:36495213:C>T,NM_001039876.2:c.973-640G>A,\N,\N,6/7,Unknown significance,\N,intron_variant,0.311,\N,\N,SYNE4
416905,19:36495214:G>A,NM_001039876.2:c.973-641C>T,\N,\N,6/7,Unknown significance,\N,intron_variant,0.042,0.0023,1KG_AFR_AF,SYNE4
416906,19:36495220:C>T,NM_001039876.2:c.973-647G>A,\N,\N,6/7,Benign,\N,intron_variant,2.206,0.0102,1KG_SAS_AF,SYNE4
416907,19:36495238:T>G,NM_001039876.2:c.973-665A>C,\N,\N,6/7,Unknown significance,\N,intron_variant,0.069,\N,\N,SYNE4
416908,19:36495283:A>C,NM_001039876.2:c.973-710T>G,\N,\N,6/7,Unknown significance,\N,intron_variant,3.856,0.001,1KG_SAS_AF,SYNE4
416909,19:36495304:C>T,NM_001039876.2:c.973-731G>A,\N,\N,6/7,Unknown significance,\N,intron_variant,4.157,0.0008,1KG_AFR_AF,SYNE4
416910,19:36495307:C>T,NM_001039876.2:c.973-734G>A,\N,\N,6/7,Unknown significance,\N,intron_variant,4.971,\N,\N,SYNE4
416911,19:36495353:G>A,NM_001039876.2:c.973-780C>T,\N,\N,6/7,Unknown significance,\N,intron_variant,1.718,\N,\N,SYNE4
416912,19:36495390:A>C,NM_001039876.2:c.973-817T>G,\N,\N,6/7,Unknown significance,\N,intron_variant,0.432,\N,\N,SYNE4
416913,19:36495419:AT>A,NM_001039876.2:c.972+815del,\N,\N,6/7,Unknown significance,\N,intron_variant,3.213,0.003,1KG_EAS_AF,SYNE4
416914,19:36495433:G>A,NM_001039876.2:c.972+802C>T,\N,\N,6/7,Unknown significance,\N,intron_variant,2.398,0.001,1KG_EUR_AF,SYNE4
416915,19:36495502:G>A,NM_001039876.2:c.972+733C>T,\N,\N,6/7,Benign,\N,intron_variant,5.981,0.202,1KG_AFR_AF,SYNE4
416916,19:36495507:G>C,NM_001039876.2:c.972+728C>G,\N,\N,6/7,Unknown significance,\N,intron_variant,3.934,\N,\N,SYNE4
416917,19:36495523:G>T,NM_001039876.2:c.972+712C>A,\N,\N,6/7,Benign,\N,intron_variant,7.48,0.006,1KG_EAS_AF,SYNE4
416918,19:36495533:G>A,NM_001039876.2:c.972+702C>T,\N,\N,6/7,Benign,\N,intron_variant,5.258,0.0533,1KG_AMR_AF,SYNE4
416919,19:36495550:A>C,NM_001039876.2:c.972+685T>G,\N,\N,6/7,Unknown significance,\N,intron_variant,1.435,0.0038,1KG_AFR_AF,SYNE4
416920,19:36495550:A>G,NM_001039876.2:c.972+685T>C,\N,\N,6/7,Unknown significance,\N,intron_variant,2.637,\N,\N,SYNE4
416921,19:36495572:C>T,NM_001039876.2:c.972+663G>A,\N,\N,6/7,Unknown significance,\N,intron_variant,1.277,\N,\N,SYNE4
416922,19:36495582:G>A,NM_001039876.2:c.972+653C>T,\N,\N,6/7,Unknown significance,\N,intron_variant,4.466,0.0014,1KG_AMR_AF,SYNE4
416923,19:36495592:T>C,NM_001039876.2:c.972+643A>G,\N,\N,6/7,Unknown significance,\N,intron_variant,3.91,0.001,1KG_SAS_AF,SYNE4
416924,19:36495619:C>T,NM_001039876.2:c.972+616G>A,\N,\N,6/7,Benign,\N,intron_variant,5.376,0.005,1KG_EAS_AF,SYNE4
416925,19:36495653:CA>C,NM_001039876.2:c.972+581del,\N,\N,6/7,Benign,\N,intron_variant,5.602,0.0058,1KG_AMR_AF,SYNE4
416926,19:36495707:A>G,NM_001039876.2:c.972+528T>C,\N,\N,6/7,Unknown significance,\N,intron_variant,13.42,0.004,1KG_EAS_AF,SYNE4
416927,19:36495768:C>T,NM_001039876.2:c.972+467G>A,\N,\N,6/7,Unknown significance,\N,intron_variant,1.536,\N,\N,SYNE4
416928,19:36495768:CT>C,NM_001039876.2:c.972+466del,\N,\N,6/7,Unknown significance,\N,intron_variant,3.762,\N,\N,SYNE4
416929,19:36495771:T>TC,NM_001039876.2:c.972+463_972+464insG,\N,\N,6/7,Unknown significance,\N,intron_variant,0.077,\N,\N,SYNE4
416930,19:36495772:T>C,NM_001039876.2:c.972+463A>G,\N,\N,6/7,Unknown significance,\N,intron_variant,0.126,\N,\N,SYNE4
416931,19:36495814:A>G,NM_001039876.2:c.972+421T>C,\N,\N,6/7,Unknown significance,\N,intron_variant,0.231,0.001,1KG_SAS_AF,SYNE4
416932,19:36495856:C>T,NM_001039876.2:c.972+379G>A,\N,\N,6/7,Benign,\N,intron_variant,3.25,0.0076,1KG_AFR_AF,SYNE4
416933,19:36495872:C>G,NM_001039876.2:c.972+363G>C,\N,\N,6/7,Unknown significance,\N,intron_variant,2.161,\N,\N,SYNE4
416934,19:36495872:C>T,NM_001039876.2:c.972+363G>A,\N,\N,6/7,Unknown significance,\N,intron_variant,3.544,0.0014,1KG_AMR_AF,SYNE4
416935,19:36495873:G>A,NM_001039876.2:c.972+362C>T,\N,\N,6/7,Unknown significance,\N,intron_variant,4.67,\N,\N,SYNE4
416936,19:36495882:C>T,NM_001039876.2:c.972+353G>A,\N,\N,6/7,Unknown significance,\N,intron_variant,0.805,0.001,1KG_SAS_AF,SYNE4
416937,19:36495883:G>A,NM_001039876.2:c.972+352C>T,\N,\N,6/7,Benign,\N,intron_variant,3.246,0.1124,1KG_AMR_AF,SYNE4
416938,19:36495900:G>A,NM_001039876.2:c.972+335C>T,\N,\N,6/7,Unknown significance,\N,intron_variant,1.76,0.0029,1KG_AMR_AF,SYNE4
416939,19:36495930:T>A,NM_001039876.2:c.972+305A>T,\N,\N,6/7,Unknown significance,\N,intron_variant,0.631,\N,\N,SYNE4
416940,19:36495958:C>T,NM_001039876.2:c.972+277G>A,\N,\N,6/7,Unknown significance,\N,intron_variant,1.587,0.001,1KG_SAS_AF,SYNE4
416941,19:36495972:T>G,NM_001039876.2:c.972+263A>C,\N,\N,6/7,Benign,\N,intron_variant,2.004,0.6687,1KG_AFR_AF,SYNE4
416942,19:36495977:C>T,NM_001039876.2:c.972+258G>A,\N,\N,6/7,Unknown significance,\N,intron_variant,3.062,0.0045,1KG_AFR_AF,SYNE4
416943,19:36495989:C>T,NM_001039876.2:c.972+246G>A,\N,\N,6/7,Benign,\N,intron_variant,2.804,0.0328,1KG_EUR_AF,SYNE4
416944,19:36495990:G>A,NM_001039876.2:c.972+245C>T,\N,\N,6/7,Unknown significance,\N,intron_variant,0.11,0.002,1KG_SAS_AF,SYNE4
416945,19:36496050:G>A,NM_001039876.2:c.972+185C>T,\N,\N,6/7,Unknown significance,\N,intron_variant,1.26,0.0015,1KG_AFR_AF,SYNE4
416946,19:36496059:T>C,NM_001039876.2:c.972+176A>G,\N,\N,6/7,Unknown significance,\N,intron_variant,0.107,0.0045,1KG_AFR_AF,SYNE4
416947,19:36496065:T>C,NM_001039876.2:c.972+170A>G,\N,\N,6/7,Unknown significance,\N,intron_variant,0.071,0.001,1KG_EUR_AF,SYNE4
416948,19:36496089:G>C,NM_001039876.2:c.972+146C>G,\N,\N,6/7,Unknown significance,\N,intron_variant,0.814,0.0015,1KG_AFR_AF,SYNE4
416949,19:36496092:T>C,NM_001039876.2:c.972+143A>G,\N,\N,6/7,Benign,\N,intron_variant,0.744,0.0159,1KG_AFR_AF,SYNE4
416950,19:36496109:C>T,NM_001039876.2:c.972+126G>A,\N,\N,6/7,Unknown significance,\N,intron_variant,6.054,0.0008,1KG_AFR_AF,SYNE4
416951,19:36496121:A>G,NM_001039876.2:c.972+114T>C,\N,\N,6/7,Benign,\N,intron_variant,1.008,0.8222,1KG_AFR_AF,SYNE4
416952,19:36496125:C>CT,NM_001039876.2:c.972+109dup,\N,\N,6/7,Unknown significance,\N,intron_variant,3.725,\N,\N,SYNE4
416953,19:36496138:T>A,NM_001039876.2:c.972+97A>T,\N,\N,6/7,Unknown significance,\N,intron_variant,1.15,\N,\N,SYNE4
416954,19:36496171:C>A,NM_001039876.2:c.972+64G>T,\N,\N,6/7,Unknown significance,\N,intron_variant,4.177,\N,\N,SYNE4
416955,19:36496197:G>A,NM_001039876.2:c.972+38C>T,\N,\N,6/7,Unknown significance,\N,intron_variant,7.81,0.0000149979,EXAC_NFE_AF,SYNE4
416956,19:36496198:A>T,NM_001039876.2:c.972+37T>A,\N,\N,6/7,Unknown significance,\N,intron_variant,6.151,0.000119474,EVS_EA_AF,SYNE4
416957,19:36496199:T>G,NM_001039876.2:c.972+36A>C,\N,\N,6/7,Unknown significance,\N,intron_variant,9.622,0.00020429,EXAC_AFR_AF,SYNE4
416958,19:36496200:T>C,NM_001039876.2:c.972+35A>G,\N,\N,6/7,Unknown significance,\N,intron_variant,8.345,0.000119474,EVS_EA_AF,SYNE4
416959,19:36496205:A>C,NM_001039876.2:c.972+30T>G,\N,\N,6/7,Unknown significance,\N,intron_variant,3.984,0.0000605767,EXAC_SAS_AF,SYNE4
416960,19:36496214:C>A,NM_001039876.2:c.972+21G>T,\N,\N,6/7,Unknown significance,\N,intron_variant,4.166,0.000432003,EXAC_AMR_AF,SYNE4
416961,19:36496225:A>T,NM_001039876.2:c.972+10T>A,\N,\N,6/7,Unknown significance,\N,intron_variant,6.549,0.0000605767,EXAC_SAS_AF,SYNE4
416962,19:36496230:C>T,NM_001039876.2:c.972+5G>A,\N,\N,6/7,Unknown significance,\N,splice_region_variant&intron_variant,15.1,0.000118878,EVS_EA_AF,SYNE4
416963,19:36496240:G>A,NM_001039876.2:c.967C>T,NP_001034965.1:p.Pro323Ser,6/8,\N,Likely benign,\N,missense_variant,22.7,0.000060562,EXAC_SAS_AF,SYNE4
416964,19:36496245:C>T,NM_001039876.2:c.962G>A,NP_001034965.1:p.Arg321Gln,6/8,\N,Likely benign,\N,missense_variant,23.3,0.00222222,EXAC_OTH_AF,SYNE4
416965,19:36496246:G>A,NM_001039876.2:c.961C>T,NP_001034965.1:p.Arg321Trp,6/8,\N,Likely benign,\N,missense_variant,26.6,0.000102103,EXAC_AFR_AF,SYNE4
416966,19:36496247:G>A,NM_001039876.2:c.960C>T,NP_001034965.1:p.Leu320=,6/8,\N,Unknown significance,\N,synonymous_variant,9.491,0.0000863856,EXAC_AMR_AF,SYNE4
416967,19:36496251:A>G,NM_001039876.2:c.956T>C,NP_001034965.1:p.Leu319Pro,6/8,\N,Unknown significance,\N,missense_variant,26.8,0.0000863856,EXAC_AMR_AF,SYNE4
416968,19:36496253:G>T,NM_001039876.2:c.954C>A,NP_001034965.1:p.Ser318=,6/8,\N,Unknown significance,\N,synonymous_variant,4.522,0.000118624,EVS_EA_AF,SYNE4
416969,19:36496269:C>T,NM_001039876.2:c.938G>A,NP_001034965.1:p.Arg313His,6/8,\N,Likely benign,\N,missense_variant,23.9,0.0000150024,EXAC_NFE_AF,SYNE4
416970,19:36496270:G>A,NM_001039876.2:c.937C>T,NP_001034965.1:p.Arg313Cys,6/8,\N,Likely benign,\N,missense_variant,23.6,0.000102062,EXAC_AFR_AF,SYNE4
416971,19:36496273:C>CTAAG,NM_001039876.2:c.930_933dup,NP_001034965.1:p.Ala312LeufsTer?,6/8,\N,Unknown significance,\N,frameshift_variant,26,0.000060562,EXAC_SAS_AF,SYNE4
416972,19:36496278:C>T,NM_001039876.2:c.929G>A,NP_001034965.1:p.Arg310His,6/8,\N,Likely benign,\N,missense_variant,11.1,0.000231965,EXAC_EAS_AF,SYNE4
416973,19:36496279:G>A,NM_001039876.2:c.928C>T,NP_001034965.1:p.Arg310Cys,6/8,\N,Unknown significance,\N,missense_variant,24.4,0.000115982,EXAC_EAS_AF,SYNE4
416974,19:36496286:G>A,NM_001039876.2:c.921C>T,NP_001034965.1:p.His307=,6/8,\N,Unknown significance,\N,synonymous_variant,1.224,0.000102124,EXAC_AFR_AF,SYNE4
416975,19:36496289:GC>G,NM_001039876.2:c.917del,NP_001034965.1:p.Gly306AlafsTer6,6/8,\N,Unknown significance,\N,frameshift_variant,27.2,\N,\N,SYNE4
416976,19:36496291:C>G,NM_001039876.2:c.916G>C,NP_001034965.1:p.Gly306Arg,6/8,\N,Likely benign,\N,missense_variant,20.5,0.00272576,EVS_EA_AF,SYNE4
416977,19:36496291:C>T,NM_001039876.2:c.916G>A,NP_001034965.1:p.Gly306Ser,6/8,\N,Likely benign,\N,missense_variant,5.447,0.0000150123,EXAC_NFE_AF,SYNE4
416978,19:36496308:A>G,NM_001039876.2:c.899T>C,NP_001034965.1:p.Met300Thr,6/8,\N,Unknown significance,\N,missense_variant,14.32,0.0000300354,EXAC_NFE_AF,SYNE4
416979,19:36496309:T>C,NM_001039876.2:c.898A>G,NP_001034965.1:p.Met300Val,6/8,\N,Likely benign,\N,missense_variant,0.629,0.0000300391,EXAC_NFE_AF,SYNE4
416980,19:36496313:C>T,NM_001039876.2:c.894G>A,NP_001034965.1:p.Gln298=,6/8,\N,Unknown significance,\N,synonymous_variant,8.568,0.000060584,EXAC_SAS_AF,SYNE4
416981,19:36496317:C>T,NM_001039876.2:c.890G>A,NP_001034965.1:p.Arg297Gln,6/8,\N,Likely benign,\N,missense_variant,9.358,0.000116225,EXAC_EAS_AF,SYNE4
416982,19:36496318:G>A,NM_001039876.2:c.889C>T,NP_001034965.1:p.Arg297Ter,6/8,\N,Unknown significance,\N,stop_gained,35,0.0000867002,EXAC_AMR_AF,SYNE4
416983,19:36496326:G>A,NM_001039876.2:c.881C>T,NP_001034965.1:p.Ser294Phe,6/8,\N,Likely benign,\N,missense_variant,23.1,0.000489476,EVS_AA_AF,SYNE4
416984,19:36496327:A>T,NM_001039876.2:c.880T>A,NP_001034965.1:p.Ser294Thr,6/8,\N,Likely benign,\N,missense_variant,10.02,0.00115347,EXAC_SAS_AF,SYNE4
416985,19:36496335:G>A,NM_001039876.2:c.872C>T,NP_001034965.1:p.Ala291Val,6/8,\N,Likely benign,\N,missense_variant,8.081,0.0000610426,EXAC_SAS_AF,SYNE4
416986,19:36496342:G>T,NM_001039876.2:c.868-3C>A,\N,\N,5/7,Unknown significance,\N,splice_region_variant&intron_variant,6.829,0.001,1KG_EUR_AF,SYNE4
416987,19:36496349:C>G,NM_001039876.2:c.868-10G>C,\N,\N,5/7,Unknown significance,\N,intron_variant,8.643,0.0000465232,EXAC_NFE_AF,SYNE4
416988,19:36496352:C>G,NM_001039876.2:c.868-13G>C,\N,\N,5/7,Unknown significance,\N,intron_variant,6.61,0.0000156206,EXAC_NFE_AF,SYNE4
416989,19:36496355:CAAAG>C,NM_001039876.2:c.868-20_868-17del,\N,\N,5/7,Unknown significance,\N,intron_variant,9.099,0.000062751,EXAC_SAS_AF,SYNE4
416990,19:36496365:C>T,NM_001039876.2:c.868-26G>A,\N,\N,5/7,Unknown significance,\N,intron_variant,1.41,0.000258665,EVS_AA_AF,SYNE4
416991,19:36496366:G>A,NM_001039876.2:c.868-27C>T,\N,\N,5/7,Unknown significance,\N,intron_variant,2.5,0.001,1KG_EAS_AF,SYNE4
416992,19:36496372:G>A,NM_001039876.2:c.868-33C>T,\N,\N,5/7,Unknown significance,\N,intron_variant,5.22,0.000133014,EXAC_EAS_AF,SYNE4
416993,19:36496385:G>A,NM_001039876.2:c.868-46C>T,\N,\N,5/7,Unknown significance,\N,intron_variant,5.795,0.0000177173,EXAC_NFE_AF,SYNE4
416994,19:36496410:T>A,NM_001039876.2:c.868-71A>T,\N,\N,5/7,Unknown significance,\N,intron_variant,14.02,\N,\N,SYNE4
416995,19:36496413:G>A,NM_001039876.2:c.868-74C>T,\N,\N,5/7,Unknown significance,\N,intron_variant,10.53,\N,\N,SYNE4
416996,19:36496419:G>A,NM_001039876.2:c.868-80C>T,\N,\N,5/7,Benign,\N,intron_variant,11.5,0.0061,1KG_AFR_AF,SYNE4
416997,19:36496445:A>G,NM_001039876.2:c.868-106T>C,\N,\N,5/7,Unknown significance,\N,intron_variant,11.31,0.0045,1KG_AFR_AF,SYNE4
416998,19:36496470:G>A,NM_001039876.2:c.868-131C>T,\N,\N,5/7,Unknown significance,\N,intron_variant,17.6,0.001,1KG_EUR_AF,SYNE4
416999,19:36496494:T>C,NM_001039876.2:c.868-155A>G,\N,\N,5/7,Unknown significance,\N,intron_variant,18.38,\N,\N,SYNE4
417000,19:36496520:T>C,NM_001039876.2:c.868-181A>G,\N,\N,5/7,Unknown significance,\N,intron_variant,8.682,\N,\N,SYNE4
417001,19:36496561:G>T,NM_001039876.2:c.868-222C>A,\N,\N,5/7,Unknown significance,\N,intron_variant,9.194,0.001,1KG_EUR_AF,SYNE4
417002,19:36496585:C>T,NM_001039876.2:c.868-246G>A,\N,\N,5/7,Unknown significance,\N,intron_variant,8.753,\N,\N,SYNE4
417003,19:36496597:T>C,NM_001039876.2:c.868-258A>G,\N,\N,5/7,Unknown significance,\N,intron_variant,8.199,\N,\N,SYNE4
417004,19:36496599:T>C,NM_001039876.2:c.868-260A>G,\N,\N,5/7,Benign,\N,intron_variant,4.057,0.0098,1KG_AFR_AF,SYNE4
417005,19:36496604:G>C,NM_001039876.2:c.868-265C>G,\N,\N,5/7,Unknown significance,\N,intron_variant,4.37,0.0023,1KG_AFR_AF,SYNE4
417006,19:36496656:T>C,NM_001039876.2:c.868-317A>G,\N,\N,5/7,Unknown significance,\N,intron_variant,1.165,0.0045,1KG_AFR_AF,SYNE4
417007,19:36496699:T>G,NM_001039876.2:c.868-360A>C,\N,\N,5/7,Unknown significance,\N,intron_variant,2.649,0.0045,1KG_AFR_AF,SYNE4
417008,19:36496700:C>T,NM_001039876.2:c.868-361G>A,\N,\N,5/7,Unknown significance,\N,intron_variant,1.171,0.0038,1KG_AFR_AF,SYNE4
417009,19:36496710:C>G,NM_001039876.2:c.868-371G>C,\N,\N,5/7,Unknown significance,\N,intron_variant,1.746,\N,\N,SYNE4
417010,19:36496715:G>A,NM_001039876.2:c.868-376C>T,\N,\N,5/7,Unknown significance,\N,intron_variant,1.502,0.0045,1KG_AFR_AF,SYNE4
417011,19:36496718:C>T,NM_001039876.2:c.868-379G>A,\N,\N,5/7,Unknown significance,\N,intron_variant,0.082,\N,\N,SYNE4
417012,19:36496719:G>C,NM_001039876.2:c.868-380C>G,\N,\N,5/7,Unknown significance,\N,intron_variant,0.013,\N,\N,SYNE4
417013,19:36496785:G>C,NM_001039876.2:c.868-446C>G,\N,\N,5/7,Unknown significance,\N,intron_variant,0.337,\N,\N,SYNE4
417014,19:36496794:A>C,NM_001039876.2:c.868-455T>G,\N,\N,5/7,Unknown significance,\N,intron_variant,0.118,0.001,1KG_EAS_AF,SYNE4
417015,19:36496803:C>G,NM_001039876.2:c.868-464G>C,\N,\N,5/7,Benign,\N,intron_variant,0.989,0.1952,1KG_AFR_AF,SYNE4
417016,19:36496813:C>A,NM_001039876.2:c.868-474G>T,\N,\N,5/7,Unknown significance,\N,intron_variant,0.027,\N,\N,SYNE4
417017,19:36496925:A>C,NM_001039876.2:c.867+400T>G,\N,\N,5/7,Unknown significance,\N,intron_variant,0.208,\N,\N,SYNE4
417018,19:36496937:T>A,NM_001039876.2:c.867+388A>T,\N,\N,5/7,Unknown significance,\N,intron_variant,1.72,\N,\N,SYNE4
417019,19:36496938:T>G,NM_001039876.2:c.867+387A>C,\N,\N,5/7,Unknown significance,\N,intron_variant,1.887,0.001,1KG_EAS_AF,SYNE4
417020,19:36496941:TA>T,NM_001039876.2:c.867+383del,\N,\N,5/7,Unknown significance,\N,intron_variant,4.722,0.002,1KG_EUR_AF,SYNE4
417021,19:36496978:G>C,NM_001039876.2:c.867+347C>G,\N,\N,5/7,Unknown significance,\N,intron_variant,0.925,0.0015,1KG_AFR_AF,SYNE4
417022,19:36496993:A>AAAGT,NM_001039876.2:c.867+328_867+331dup,\N,\N,5/7,Unknown significance,\N,intron_variant,\N,\N,\N,SYNE4
417023,19:36496993:AAAGT>A,NM_001039876.2:c.867+328_867+331del,\N,\N,5/7,Benign,\N,intron_variant,1.897,0.166,1KG_EUR_AF,SYNE4
417024,19:36496996:GTAA>G,NM_001039876.2:c.867+326_867+328del,\N,\N,5/7,Unknown significance,\N,intron_variant,\N,\N,\N,SYNE4
417025,19:36497022:G>A,NM_001039876.2:c.867+303C>T,\N,\N,5/7,Unknown significance,\N,intron_variant,5.024,\N,\N,SYNE4
417026,19:36497025:G>A,NM_001039876.2:c.867+300C>T,\N,\N,5/7,Unknown significance,\N,intron_variant,1.73,\N,\N,SYNE4
417027,19:36497031:G>A,NM_001039876.2:c.867+294C>T,\N,\N,5/7,Unknown significance,\N,intron_variant,4.049,0.001,1KG_EAS_AF,SYNE4
417028,19:36497090:G>A,NM_001039876.2:c.867+235C>T,\N,\N,5/7,Unknown significance,\N,intron_variant,0.774,0.001,1KG_EUR_AF,SYNE4
417029,19:36497122:G>A,NM_001039876.2:c.867+203C>T,\N,\N,5/7,Unknown significance,\N,intron_variant,5.957,0.0045,1KG_AFR_AF,SYNE4
417030,19:36497139:T>G,NM_001039876.2:c.867+186A>C,\N,\N,5/7,Unknown significance,\N,intron_variant,7.103,\N,\N,SYNE4
417031,19:36497143:G>A,NM_001039876.2:c.867+182C>T,\N,\N,5/7,Benign,\N,intron_variant,14.25,0.025,1KG_AFR_AF,SYNE4
417032,19:36497149:G>A,NM_001039876.2:c.867+176C>T,\N,\N,5/7,Unknown significance,\N,intron_variant,12.38,\N,\N,SYNE4
417033,19:36497182:T>C,NM_001039876.2:c.867+143A>G,\N,\N,5/7,Unknown significance,\N,intron_variant,0.036,0.0014,1KG_AMR_AF,SYNE4
417034,19:36497196:G>A,NM_001039876.2:c.867+129C>T,\N,\N,5/7,Unknown significance,\N,intron_variant,1.912,\N,\N,SYNE4
417035,19:36497209:A>G,NM_001039876.2:c.867+116T>C,\N,\N,5/7,Unknown significance,\N,intron_variant,0.473,\N,\N,SYNE4
417036,19:36497235:C>T,NM_001039876.2:c.867+90G>A,\N,\N,5/7,Benign,\N,intron_variant,4.096,0.0204,1KG_SAS_AF,SYNE4
417037,19:36497247:G>C,NM_001039876.2:c.867+78C>G,\N,\N,5/7,Benign,\N,intron_variant,1.552,0.0378,1KG_EUR_AF,SYNE4
417038,19:36497266:T>G,NM_001039876.2:c.867+59A>C,\N,\N,5/7,Unknown significance,\N,intron_variant,2.144,0.0045,1KG_AFR_AF,SYNE4
417039,19:36497268:C>T,NM_001039876.2:c.867+57G>A,\N,\N,5/7,Unknown significance,\N,intron_variant,3.157,\N,\N,SYNE4
417040,19:36497280:C>T,NM_001039876.2:c.867+45G>A,\N,\N,5/7,Unknown significance,\N,intron_variant,7.583,0.00021245,EXAC_AFR_AF,SYNE4
417041,19:36497284:G>C,NM_001039876.2:c.867+41C>G,\N,\N,5/7,Unknown significance,\N,intron_variant,7.102,0.000318336,EXAC_AFR_AF,SYNE4
417042,19:36497291:T>C,NM_001039876.2:c.867+34A>G,\N,\N,5/7,Unknown significance,\N,intron_variant,6.453,0.0000314614,EXAC_NFE_AF,SYNE4
417043,19:36497308:A>AG,NM_001039876.2:c.867+16dup,\N,\N,5/7,Unknown significance,\N,intron_variant,1.146,0.0000156637,EXAC_NFE_AF,SYNE4
417044,19:36497313:G>C,NM_001039876.2:c.867+12C>G,\N,\N,5/7,Unknown significance,\N,intron_variant,12.26,0.0000156191,EXAC_NFE_AF,SYNE4
417045,19:36497322:C>A,NM_001039876.2:c.867+3G>T,\N,\N,5/7,Unknown significance,\N,splice_region_variant&intron_variant,11.8,\N,\N,SYNE4
417046,19:36497331:G>C,NM_001039876.2:c.861C>G,NP_001034965.1:p.Gly287=,5/8,\N,Unknown significance,\N,synonymous_variant,6.162,0.000232775,EXAC_EAS_AF,SYNE4
417047,19:36497335:T>G,NM_001039876.2:c.857A>C,NP_001034965.1:p.Gln286Pro,5/8,\N,Unknown significance,\N,missense_variant,25.6,0.0000870777,EXAC_AMR_AF,SYNE4
417048,19:36497340:C>A,NM_001039876.2:c.852G>T,NP_001034965.1:p.Arg284Ser,5/8,\N,Likely benign,\N,missense_variant,23.4,\N,\N,SYNE4
417049,19:36497343:G>A,NM_001039876.2:c.849C>T,NP_001034965.1:p.Gly283=,5/8,\N,Unknown significance,\N,synonymous_variant,8.066,0.0000308718,EXAC_NFE_AF,SYNE4
417050,19:36497344:C>A,NM_001039876.2:c.848G>T,NP_001034965.1:p.Gly283Val,5/8,\N,Unknown significance,\N,missense_variant,29.1,\N,\N,SYNE4
417051,19:36497349:G>A,NM_001039876.2:c.843C>T,NP_001034965.1:p.Pro281=,5/8,\N,Unknown significance,\N,synonymous_variant,4.019,0.000258799,EVS_AA_AF,SYNE4
417052,19:36497351:G>T,NM_001039876.2:c.841C>A,NP_001034965.1:p.Pro281Thr,5/8,\N,Unknown significance,\N,missense_variant,23.2,0.000258665,EVS_AA_AF,SYNE4
417053,19:36497356:C>T,NM_001039876.2:c.836G>A,NP_001034965.1:p.Arg279Lys,5/8,\N,Likely benign,\N,missense_variant,10.91,0.001,1KG_EAS_AF,SYNE4
417054,19:36497358:C>G,NM_001039876.2:c.834G>C,NP_001034965.1:p.Gln278His,5/8,\N,Benign,\N,missense_variant,0.019,0.997,1KG_AFR_AF,SYNE4
417055,19:36497360:G>A,NM_001039876.2:c.832C>T,NP_001034965.1:p.Gln278Ter,5/8,\N,Unknown significance,\N,stop_gained,36,0.000111757,EXAC_AFR_AF,SYNE4
417056,19:36497361:G>T,NM_001039876.2:c.831C>A,NP_001034965.1:p.Gly277=,5/8,\N,Unknown significance,\N,synonymous_variant,7.693,0.000172712,EXAC_FIN_AF,SYNE4
417057,19:36497369:G>A,NM_001039876.2:c.823C>T,NP_001034965.1:p.Leu275=,5/8,\N,Unknown significance,\N,synonymous_variant,9.312,\N,\N,SYNE4
417058,19:36497372:C>T,NM_001039876.2:c.820G>A,NP_001034965.1:p.Glu274Lys,5/8,\N,Unknown significance,\N,missense_variant,28.7,0.0000952381,EXAC_AMR_AF,SYNE4
417059,19:36497373:A>G,NM_001039876.2:c.819T>C,NP_001034965.1:p.Cys273=,5/8,\N,Benign,\N,synonymous_variant,0.444,0.211248,EXAC_EAS_AF,SYNE4
417060,19:36497375:A>G,NM_001039876.2:c.817T>C,NP_001034965.1:p.Cys273Arg,5/8,\N,Unknown significance,\N,missense_variant,25.5,0.000127324,EXAC_EAS_AF,SYNE4
417061,19:36497377:G>A,NM_001039876.2:c.815C>T,NP_001034965.1:p.Pro272Leu,5/8,\N,Unknown significance,\N,missense_variant,23.9,0.0000168719,EXAC_NFE_AF,SYNE4
417062,19:36497378:G>A,NM_001039876.2:c.814C>T,NP_001034965.1:p.Pro272Ser,5/8,\N,Unknown significance,\N,missense_variant,24.9,0.000121625,EVS_EA_AF,SYNE4
417063,19:36497380:A>C,NM_001039876.2:c.812T>G,NP_001034965.1:p.Val271Gly,5/8,\N,Likely benign,\N,missense_variant,13.69,0.0000672676,EXAC_SAS_AF,SYNE4
417064,19:36497380:A>G,NM_001039876.2:c.812T>C,NP_001034965.1:p.Val271Ala,5/8,\N,Likely benign,\N,missense_variant,0.016,0.000198728,EXAC_AMR_AF,SYNE4
417065,19:36497381:C>G,NM_001039876.2:c.811G>C,NP_001034965.1:p.Val271Leu,5/8,\N,Likely benign,\N,missense_variant,18.62,0.000017101,EXAC_NFE_AF,SYNE4
417066,19:36497387:G>A,NM_001039876.2:c.805C>T,NP_001034965.1:p.Leu269=,5/8,\N,Benign,\N,synonymous_variant,3.097,0.00974559,EXAC_AMR_AF,SYNE4
417067,19:36497392:C>T,NM_001039876.2:c.800G>A,NP_001034965.1:p.Arg267Gln,5/8,\N,Likely benign,\N,missense_variant,9.179,0.00406504,EXAC_OTH_AF,SYNE4
417068,19:36497393:G>A,NM_001039876.2:c.799C>T,NP_001034965.1:p.Arg267Trp,5/8,\N,Benign,\N,missense_variant,2.103,0.0431,1KG_AFR_AF,SYNE4
417069,19:36497396:C>T,NM_001039876.2:c.796G>A,NP_001034965.1:p.Ala266Thr,5/8,\N,Likely benign,\N,missense_variant,15,0.001,1KG_EAS_AF,SYNE4
417070,19:36497403:T>C,NM_001039876.2:c.789A>G,NP_001034965.1:p.Gln263=,5/8,\N,Benign,\N,synonymous_variant,0.005,0.0082,1KG_SAS_AF,SYNE4
417071,19:36497414:G>C,NM_001039876.2:c.778C>G,NP_001034965.1:p.Pro260Ala,5/8,\N,Unknown significance,\N,missense_variant,21.6,0.0000191015,EXAC_NFE_AF,SYNE4
417072,19:36497415:C>T,NM_001039876.2:c.777G>A,NP_001034965.1:p.Gly259=,5/8,\N,Unknown significance,\N,synonymous_variant,8.48,0.000113714,EXAC_AMR_AF,SYNE4
417073,19:36497428:A>G,NM_001039876.2:c.764T>C,NP_001034965.1:p.Ile255Thr,5/8,\N,Unknown significance,\N,missense_variant,24.9,0.00144571,EXAC_SAS_AF,SYNE4
417074,19:36497431:TC>T,NM_001039876.2:c.760del,NP_001034965.1:p.Asp254ThrfsTer16,5/8,\N,Unknown significance,\N,frameshift_variant,34,0.0000730353,EXAC_SAS_AF,SYNE4
417075,19:36497436:C>T,NM_001039876.2:c.756G>A,NP_001034965.1:p.Ala252=,5/8,\N,Unknown significance,\N,synonymous_variant,14.63,0.0045,1KG_AFR_AF,SYNE4
417076,19:36497437:G>A,NM_001039876.2:c.755C>T,NP_001034965.1:p.Ala252Val,5/8,\N,Unknown significance,\N,missense_variant,26.5,0.0000818666,EXAC_NFE_AF,SYNE4
417077,19:36497439:C>T,NM_001039876.2:c.753G>A,NP_001034965.1:p.Pro251=,5/8,\N,Unknown significance,\N,synonymous_variant,12.77,0.001,1KG_SAS_AF,SYNE4
417078,19:36497440:G>A,NM_001039876.2:c.752C>T,NP_001034965.1:p.Pro251Leu,5/8,\N,Unknown significance,\N,missense_variant,28.7,0.000147275,EXAC_AFR_AF,SYNE4
417079,19:36497444:C>A,NM_001039876.2:c.748G>T,NP_001034965.1:p.Asp250Tyr,5/8,\N,Unknown significance,\N,missense_variant,28.1,0.0000205601,EXAC_NFE_AF,SYNE4
417080,19:36497474:T>C,NM_001039876.2:c.718A>G,NP_001034965.1:p.Ser240Gly,5/8,\N,Likely benign,\N,missense_variant,22.3,0.0000214059,EXAC_NFE_AF,SYNE4
417081,19:36497490:C>G,NM_001039876.2:c.702G>C,NP_001034965.1:p.Gly234=,5/8,\N,Unknown significance,\N,synonymous_variant,7.096,0.001,1KG_EUR_AF,SYNE4
417082,19:36497493:C>T,NM_001039876.2:c.699G>A,NP_001034965.1:p.Trp233Ter,5/8,\N,Unknown significance,\N,stop_gained,36,0.00135135,EVS_AA_AF,SYNE4
417083,19:36497497:A>G,NM_001039876.2:c.695T>C,NP_001034965.1:p.Val232Ala,5/8,\N,Likely benign,\N,missense_variant,17.42,0.0014,1KG_AMR_AF,SYNE4
417084,19:36497500:C>T,NM_001297735.2:c.353G>A,NP_001284664.1:p.Gly118Glu,3/6,\N,Unknown significance,\N,missense_variant,24.5,0.00020496,EXAC_NFE_AF,SYNE4
417085,19:36497501:C>T,NM_001039876.2:c.691G>A,NP_001034965.1:p.Gly231Arg,5/8,\N,Unknown significance,\N,missense_variant,24.9,\N,\N,SYNE4
417086,19:36497506:G>A,NM_001039876.2:c.686C>T,NP_001034965.1:p.Pro229Leu,5/8,\N,Likely benign,\N,missense_variant,8.274,0.000435793,EXAC_EAS_AF,SYNE4
417087,19:36497507:G>T,NM_001039876.2:c.685C>A,NP_001034965.1:p.Pro229Thr,5/8,\N,Likely benign,\N,missense_variant,8.316,\N,\N,SYNE4
417088,19:36497520:C>T,NM_001039876.2:c.672G>A,NP_001034965.1:p.Ser224=,5/8,\N,Unknown significance,\N,synonymous_variant,9.994,0.000298641,EXAC_SAS_AF,SYNE4
417089,19:36497521:G>A,NM_001039876.2:c.671C>T,NP_001034965.1:p.Ser224Leu,5/8,\N,Likely benign,\N,missense_variant,0.001,0.000276091,EXAC_EAS_AF,SYNE4
417090,19:36497521:G>T,NM_001039876.2:c.671C>A,NP_001034965.1:p.Ser224Ter,5/8,\N,Unknown significance,\N,stop_gained,24.7,0,EXAC_ALL_AF|EXAC_AFR_AF|EXAC_AMR_AF|EXAC_EAS_AF|EXAC_FIN_AF|EXAC_NFE_AF|EXAC_OTH_AF|EXAC_SAS_AF,SYNE4
417091,19:36497523:G>A,NM_001039876.2:c.669C>T,NP_001034965.1:p.Asp223=,5/8,\N,Unknown significance,\N,synonymous_variant,0.048,0.0014,1KG_AMR_AF,SYNE4
417092,19:36497525:CTCCCT>C,NM_001039876.2:c.662_666del,NP_001034965.1:p.Glu221GlyfsTer18,5/8,\N,Unknown significance,\N,frameshift_variant,25.6,\N,\N,SYNE4
417093,19:36497531:C>T,NM_001039876.2:c.661G>A,NP_001034965.1:p.Glu221Lys,5/8,\N,Likely benign,\N,missense_variant,23,0.000260078,EXAC_AFR_AF,SYNE4
417094,19:36497532:G>A,NM_001039876.2:c.660C>T,NP_001034965.1:p.Val220=,5/8,\N,Unknown significance,\N,synonymous_variant,4.844,0.001,1KG_SAS_AF,SYNE4
417095,19:36497538:C>A,NM_001039876.2:c.654G>T,NP_001034965.1:p.Leu218Phe,5/8,\N,Unknown significance,\N,missense_variant,25.4,0.0000172331,EXAC_NFE_AF,SYNE4
417096,19:36497544:C>T,NM_001039876.2:c.648G>A,NP_001034965.1:p.Gln216=,5/8,\N,Unknown significance,\N,synonymous_variant,8.647,0.0000169314,EXAC_NFE_AF,SYNE4
417097,19:36497553:C>T,NM_001039876.2:c.639G>A,NP_001034965.1:p.Thr213=,5/8,\N,Unknown significance,\N,synonymous_variant,6.198,\N,\N,SYNE4
417098,19:36497554:G>A,NM_001039876.2:c.638C>T,NP_001034965.1:p.Thr213Met,5/8,\N,Likely benign,\N,missense_variant,13.7,0.0029,1KG_AMR_AF,SYNE4
417099,19:36497567:C>T,NM_001039876.2:c.625G>A,NP_001034965.1:p.Glu209Lys,5/8,\N,Likely benign,\N,missense_variant,23.2,0.000808875,EXAC_AFR_AF,SYNE4
417100,19:36497568:G>A,NM_001039876.2:c.624C>T,NP_001034965.1:p.Phe208=,5/8,\N,Unknown significance,\N,synonymous_variant,9.842,0.000115207,EXAC_AFR_AF,SYNE4
417101,19:36497571:C>T,NM_001039876.2:c.621G>A,NP_001034965.1:p.Val207=,5/8,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,12.39,0.0000811952,EXAC_SAS_AF,SYNE4
417102,19:36497584:G>A,NM_001039876.2:c.619-11C>T,\N,\N,4/7,Unknown significance,\N,intron_variant,21.8,0.0000825355,EXAC_SAS_AF,SYNE4
417103,19:36497591:G>T,NM_001039876.2:c.619-18C>A,\N,\N,4/7,Unknown significance,\N,intron_variant,19.85,0.0000161228,EXAC_NFE_AF,SYNE4
417104,19:36497606:G>A,NM_001039876.2:c.619-33C>T,\N,\N,4/7,Unknown significance,\N,intron_variant,1.48,\N,\N,SYNE4
417105,19:36497609:G>A,NM_001039876.2:c.619-36C>T,\N,\N,4/7,Unknown significance,\N,intron_variant,7.342,\N,\N,SYNE4
417106,19:36497611:T>C,NM_001039876.2:c.619-38A>G,\N,\N,4/7,Unknown significance,\N,intron_variant,9.299,0.001,1KG_EAS_AF,SYNE4
417107,19:36497627:T>G,NM_001039876.2:c.618+25A>C,\N,\N,4/7,Unknown significance,\N,intron_variant,0.568,0.000016372,EXAC_NFE_AF,SYNE4
417108,19:36497627:TG>T,NM_001039876.2:c.618+24del,\N,\N,4/7,Benign,\N,intron_variant,0.619,0.0439126,EXAC_AFR_AF,SYNE4
417109,19:36497631:G>C,NM_001039876.2:c.618+21C>G,\N,\N,4/7,Unknown significance,\N,intron_variant,0.128,0.000186916,EXAC_AMR_AF,SYNE4
417110,19:36497632:G>T,NM_001039876.2:c.618+20C>A,\N,\N,4/7,Unknown significance,\N,intron_variant,0.491,0.0000164101,EXAC_NFE_AF,SYNE4
417111,19:36497640:G>C,NM_001039876.2:c.618+12C>G,\N,\N,4/7,Unknown significance,\N,intron_variant,0.345,0.000469925,EXAC_AFR_AF,SYNE4
417112,19:36497644:G>T,NM_001039876.2:c.618+8C>A,\N,\N,4/7,Unknown significance,\N,splice_region_variant&intron_variant,10.87,0.000118427,EXAC_AFR_AF,SYNE4
417113,19:36497645:G>A,NM_001039876.2:c.618+7C>T,\N,\N,4/7,Unknown significance,\N,splice_region_variant&intron_variant,11.56,0.0000166456,EXAC_NFE_AF,SYNE4
417114,19:36497650:A>T,NM_001039876.2:c.618+2T>A,\N,\N,4/7,Unknown significance,\N,splice_donor_variant,25.5,0.0000334247,EXAC_NFE_AF,SYNE4
417115,19:36497654:G>A,NM_001039876.2:c.616C>T,NP_001034965.1:p.Leu206=,4/8,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,15.2,0.0000335548,EXAC_NFE_AF,SYNE4
417116,19:36497669:G>T,NM_001039876.2:c.601C>A,NP_001034965.1:p.Leu201Met,4/8,\N,Unknown significance,\N,missense_variant,26.1,0.000326663,EXAC_NFE_AF,SYNE4
417117,19:36497681:G>A,NM_001039876.2:c.589C>T,NP_001034965.1:p.Leu197=,4/8,\N,Unknown significance,\N,synonymous_variant,11.4,\N,\N,SYNE4
417118,19:36497691:C>T,NM_001039876.2:c.579G>A,NP_001034965.1:p.Arg193=,4/8,\N,Unknown significance,\N,synonymous_variant,14.12,0.000757461,EXAC_SAS_AF,SYNE4
417119,19:36497692:C>T,NM_001039876.2:c.578G>A,NP_001034965.1:p.Arg193Gln,4/8,\N,Likely benign,\N,missense_variant,25.7,0.000166488,EXAC_NFE_AF,SYNE4
417120,19:36497693:G>A,NM_001039876.2:c.577C>T,NP_001034965.1:p.Arg193Trp,4/8,\N,Likely benign,\N,missense_variant,27.5,0.000151883,EXAC_SAS_AF,SYNE4
417121,19:36497695:C>T,NM_001039876.2:c.575G>A,NP_001034965.1:p.Arg192Gln,4/8,\N,Likely benign,\N,missense_variant,24.8,0.001,1KG_SAS_AF,SYNE4
417122,19:36497696:G>A,NM_001039876.2:c.574C>T,NP_001034965.1:p.Arg192Trp,4/8,\N,Unknown significance,\N,missense_variant,26.3,0.0000758035,EXAC_SAS_AF,SYNE4
417123,19:36497697:G>A,NM_001039876.2:c.573C>T,NP_001034965.1:p.Phe191=,4/8,\N,Unknown significance,\N,synonymous_variant,10.16,0.0000189014,EXAC_NFE_AF,SYNE4
417124,19:36497698:A>T,NM_001039876.2:c.572T>A,NP_001034965.1:p.Phe191Tyr,4/8,\N,Unknown significance,\N,missense_variant,26.8,0.001,1KG_SAS_AF,SYNE4
417125,19:36497710:C>T,NM_001039876.2:c.560G>A,NP_001034965.1:p.Arg187Gln,4/8,\N,Likely benign,\N,missense_variant,24.3,0.001,1KG_EAS_AF,SYNE4
417126,19:36497711:G>A,NM_001039876.2:c.559C>T,NP_001034965.1:p.Arg187Ter,4/8,\N,Unknown significance,\N,stop_gained,36,0.000291886,EXAC_FIN_AF,SYNE4
417127,19:36497712:G>A,NM_001039876.2:c.558C>T,NP_001034965.1:p.Tyr186=,4/8,\N,Unknown significance,\N,synonymous_variant,2.571,\N,\N,SYNE4
417128,19:36497727:C>T,NM_001039876.2:c.543G>A,NP_001034965.1:p.Arg181=,4/8,\N,Benign,\N,synonymous_variant,14.94,0.0266427,EXAC_AFR_AF,SYNE4
417129,19:36497728:C>T,NM_001039876.2:c.542G>A,NP_001034965.1:p.Arg181Gln,4/8,\N,Unknown significance,\N,missense_variant,23.2,0.0000856311,EXAC_SAS_AF,SYNE4
417130,19:36497729:G>A,NM_001039876.2:c.541C>T,NP_001034965.1:p.Arg181Trp,4/8,\N,Unknown significance,\N,missense_variant,24.5,0.003,1KG_AFR_AF,SYNE4
417131,19:36497731:A>G,NM_001039876.2:c.539T>C,NP_001034965.1:p.Leu180Pro,4/8,\N,Unknown significance,\N,missense_variant,27.3,0.000509944,EXAC_AMR_AF,SYNE4
417132,19:36497747:C>G,NM_001039876.2:c.523G>C,NP_001034965.1:p.Ala175Pro,4/8,\N,Benign,\N,missense_variant,22.3,0.122292,EXAC_AFR_AF,SYNE4
417133,19:36497753:A>G,NM_001039876.2:c.517T>C,NP_001034965.1:p.Trp173Arg,4/8,\N,Likely benign,\N,missense_variant,15.46,0.000476417,EXAC_AFR_AF,SYNE4
417134,19:36497754:G>C,NM_001039876.2:c.516C>G,NP_001034965.1:p.Ala172=,4/8,\N,Unknown significance,\N,synonymous_variant,9.194,\N,\N,SYNE4
417135,19:36497766:A>C,NM_001039876.2:c.504T>G,NP_001034965.1:p.Ser168Arg,4/8,\N,Unknown significance,\N,missense_variant,25.2,0.0000513769,EXAC_NFE_AF,SYNE4
417136,19:36497770:C>T,NM_001039876.2:c.500G>A,NP_001034965.1:p.Arg167Gln,4/8,\N,Likely benign,\N,missense_variant,22.5,0.000221533,EXAC_NFE_AF,SYNE4
417137,19:36497771:G>A,NM_001039876.2:c.499C>T,NP_001034965.1:p.Arg167Trp,4/8,\N,Unknown significance,\N,missense_variant,25,0.0014,1KG_AMR_AF,SYNE4
417138,19:36497793:C>T,NM_001039876.2:c.477G>A,NP_001034965.1:p.Ala159=,4/8,\N,Unknown significance,\N,synonymous_variant,13.26,0.000818331,EXAC_EAS_AF,SYNE4
417139,19:36497794:G>A,NM_001039876.2:c.476C>T,NP_001034965.1:p.Ala159Val,4/8,\N,Likely benign,\N,missense_variant,0.21,0.001,1KG_EUR_AF,SYNE4
417140,19:36497794:G>T,NM_001039876.2:c.476C>A,NP_001034965.1:p.Ala159Glu,4/8,\N,Likely benign,\N,missense_variant,7.037,\N,\N,SYNE4
417141,19:36497802:C>T,NM_001039876.2:c.468G>A,NP_001034965.1:p.Ala156=,4/8,\N,Unknown significance,\N,synonymous_variant,10.48,0.000104756,EXAC_NFE_AF,SYNE4
417142,19:36497803:G>A,NM_001039876.2:c.467C>T,NP_001034965.1:p.Ala156Val,4/8,\N,Unknown significance,\N,missense_variant,23.9,0.000104976,EXAC_NFE_AF,SYNE4
417143,19:36497810:C>T,NM_001039876.2:c.460G>A,NP_001034965.1:p.Val154Met,4/8,\N,Likely benign,\N,missense_variant,14.82,\N,\N,SYNE4
417144,19:36497812:C>T,NM_001039876.2:c.458G>A,NP_001034965.1:p.Arg153His,4/8,\N,Likely benign,\N,missense_variant,24.3,0.000136351,EXAC_SAS_AF,SYNE4
417145,19:36497816:C>T,NM_001039876.2:c.454G>A,NP_001034965.1:p.Glu152Lys,4/8,\N,Unknown significance,\N,missense_variant,24,0.000236518,EXAC_NFE_AF,SYNE4
417146,19:36497827:C>T,NM_001039876.2:c.443G>A,NP_001034965.1:p.Arg148Gln,4/8,\N,Likely benign,\N,missense_variant,22.2,0.0016835,EXAC_EAS_AF,SYNE4
417147,19:36497828:G>A,NM_001039876.2:c.442C>T,NP_001034965.1:p.Arg148Ter,4/8,\N,Unknown significance,\N,stop_gained,35,0.000150015,EXAC_SAS_AF,SYNE4
417148,19:36497833:T>C,NM_001039876.2:c.437A>G,NP_001034965.1:p.Asp146Gly,4/8,\N,Unknown significance,\N,missense_variant,24,\N,\N,SYNE4
417149,19:36497847:C>G,NM_001039876.2:c.424-1G>C,\N,\N,3/7,Unknown significance,\N,splice_acceptor_variant,23.1,0.001,1KG_SAS_AF,SYNE4
417150,19:36497850:G>C,NM_001039876.2:c.424-4C>G,\N,\N,3/7,Unknown significance,\N,splice_region_variant&intron_variant,0.055,0.000174825,EXAC_SAS_AF,SYNE4
417151,19:36497863:A>G,NM_001039876.2:c.424-17T>C,\N,\N,3/7,Unknown significance,\N,intron_variant,5.084,0.000126807,EVS_EA_AF,SYNE4
417152,19:36497873:G>A,NM_001039876.2:c.424-27C>T,\N,\N,3/7,Benign,\N,intron_variant,1.749,0.00694444,EXAC_OTH_AF,SYNE4
417153,19:36497875:A>G,NM_001039876.2:c.424-29T>C,\N,\N,3/7,Unknown significance,\N,intron_variant,3.078,\N,\N,SYNE4
417154,19:36497878:C>T,NM_001039876.2:c.424-32G>A,\N,\N,3/7,Unknown significance,\N,intron_variant,10.35,0.000541712,EXAC_AFR_AF,SYNE4
417155,19:36497942:GCA>G,NM_001039876.2:c.423+83_423+84del,\N,\N,3/7,Unknown significance,\N,intron_variant,\N,\N,\N,SYNE4
417156,19:36497977:C>T,NM_001039876.2:c.423+50G>A,\N,\N,3/7,Unknown significance,\N,intron_variant,14.31,0.000039692,EXAC_NFE_AF,SYNE4
417157,19:36497988:G>A,NM_001039876.2:c.423+39C>T,\N,\N,3/7,Unknown significance,\N,intron_variant,15.14,0.000249626,EXAC_AMR_AF,SYNE4
417158,19:36497992:G>A,NM_001039876.2:c.423+35C>T,\N,\N,3/7,Unknown significance,\N,intron_variant,14,0.000299581,EXAC_EAS_AF,SYNE4
417159,19:36497996:C>T,NM_001039876.2:c.423+31G>A,\N,\N,3/7,Unknown significance,\N,intron_variant,13.84,0.000883913,EXAC_EAS_AF,SYNE4
417160,19:36497997:C>T,NM_001039876.2:c.423+30G>A,\N,\N,3/7,Unknown significance,\N,intron_variant,16.21,\N,\N,SYNE4
417161,19:36497998:A>G,NM_001039876.2:c.423+29T>C,\N,\N,3/7,Unknown significance,\N,intron_variant,17.77,0.000157518,EXAC_NFE_AF,SYNE4
417162,19:36498011:G>C,NM_001039876.2:c.423+16C>G,\N,\N,3/7,Unknown significance,\N,intron_variant,13.04,0.0000383465,EXAC_NFE_AF,SYNE4
417163,19:36498013:C>T,NM_001039876.2:c.423+14G>A,\N,\N,3/7,Unknown significance,\N,intron_variant,13.49,0.000237812,EVS_EA_AF,SYNE4
417164,19:36498020:T>A,NM_001039876.2:c.423+7A>T,\N,\N,3/7,Unknown significance,\N,splice_region_variant&intron_variant,9.384,0.000118906,EVS_EA_AF,SYNE4
417165,19:36498030:C>A,NM_001039876.2:c.420G>T,NP_001034965.1:p.Leu140=,3/8,\N,Unknown significance,\N,synonymous_variant,12.54,0.00030012,EXAC_SAS_AF,SYNE4
417166,19:36498034:TG>T,NM_001039876.2:c.415del,NP_001034965.1:p.Gln139SerfsTer20,3/8,\N,Unknown significance,\N,frameshift_variant,33,\N,\N,SYNE4
417167,19:36498038:C>A,NM_001039876.2:c.412G>T,NP_001034965.1:p.Val138Leu,3/8,\N,Likely benign,\N,missense_variant,20.4,0.0000370233,EXAC_NFE_AF,SYNE4
417168,19:36498039:C>T,NM_001039876.2:c.411G>A,NP_001034965.1:p.Met137Ile,3/8,\N,Likely benign,\N,missense_variant,12.15,0.000268673,EXAC_EAS_AF,SYNE4
417169,19:36498046:C>G,NM_001039876.2:c.404G>C,NP_001034965.1:p.Ser135Thr,3/8,\N,Likely benign,\N,missense_variant,12.1,0.0000373441,EXAC_NFE_AF,SYNE4
417170,19:36498057:TGCCCAGTGCCCCAGGCCTTGCTCCAGGTCCTGCAGCCGGCG>T,NM_001039876.2:c.352_392del,NP_001034965.1:p.Arg118IlefsTer21,3/8,\N,Unknown significance,\N,frameshift_variant,31,\N,\N,SYNE4
417171,19:36498059:C>T,NM_001039876.2:c.391G>A,NP_001034965.1:p.Ala131Thr,3/8,\N,Benign,\N,missense_variant,11.18,0.0109082,EXAC_AFR_AF,SYNE4
417172,19:36498062:A>G,NM_001039876.2:c.388T>C,NP_001034965.1:p.Trp130Arg,3/8,\N,Unknown significance,\N,missense_variant,23.3,0.0000387657,EXAC_NFE_AF,SYNE4
417173,19:36498069:C>T,NM_001039876.2:c.381G>A,NP_001034965.1:p.Leu127=,3/8,\N,Unknown significance,\N,synonymous_variant,3.097,\N,\N,SYNE4
417174,19:36498073:C>T,NM_001039876.2:c.377G>A,NP_001034965.1:p.Gly126Asp,3/8,\N,Unknown significance,\N,missense_variant,24.7,0.0000803471,EXAC_NFE_AF,SYNE4
417175,19:36498078:C>T,NM_001039876.2:c.372G>A,NP_001034965.1:p.Glu124=,3/8,\N,Unknown significance,\N,synonymous_variant,6.846,\N,\N,SYNE4
417176,19:36498083:G>A,NM_001039876.2:c.367C>T,NP_001034965.1:p.Leu123=,3/8,\N,Unknown significance,\N,synonymous_variant,1.669,0.0000414834,EXAC_NFE_AF,SYNE4
417177,19:36498083:G>C,NM_001039876.2:c.367C>G,NP_001034965.1:p.Leu123Val,3/8,\N,Unknown significance,\N,missense_variant,14.65,0.000120135,EVS_EA_AF,SYNE4
417178,19:36498086:C>T,NM_001039876.2:c.364G>A,NP_001034965.1:p.Asp122Asn,3/8,\N,Unknown significance,\N,missense_variant,23.3,0.0000425604,EXAC_NFE_AF,SYNE4
417179,19:36498087:C>T,NM_001039876.2:c.363G>A,NP_001034965.1:p.Gln121=,3/8,\N,Benign,\N,synonymous_variant,7.16,0.0410742,EXAC_AFR_AF,SYNE4
417180,19:36498093:C>T,NM_001039876.2:c.357G>A,NP_001034965.1:p.Arg119=,3/8,\N,Unknown significance,\N,synonymous_variant,8.091,0.0000444879,EXAC_NFE_AF,SYNE4
417181,19:36498094:C>T,NM_001039876.2:c.356G>A,NP_001034965.1:p.Arg119Gln,3/8,\N,Likely benign,\N,missense_variant,10.19,0.00231303,EXAC_AMR_AF,SYNE4
417182,19:36498095:G>A,NM_001039876.2:c.355C>T,NP_001034965.1:p.Arg119Trp,3/8,\N,Likely benign,\N,missense_variant,20.4,0.0029,1KG_AMR_AF,SYNE4
417183,19:36498097:C>A,NM_001039876.2:c.353G>T,NP_001034965.1:p.Arg118Leu,3/8,\N,Likely benign,\N,missense_variant,8.139,0.000108885,EXAC_SAS_AF,SYNE4
417184,19:36498097:C>T,NM_001039876.2:c.353G>A,NP_001034965.1:p.Arg118His,3/8,\N,Unknown significance,\N,missense_variant,22.9,0.00021777,EXAC_SAS_AF,SYNE4
417185,19:36498104:G>C,NM_001039876.2:c.346C>G,NP_001034965.1:p.Leu116Val,3/8,\N,Unknown significance,\N,missense_variant,22,\N,\N,SYNE4
417186,19:36498105:C>T,NM_001039876.2:c.345G>A,NP_001034965.1:p.Gly115=,3/8,\N,Unknown significance,\N,synonymous_variant,8.27,0.000254323,EVS_AA_AF,SYNE4
417187,19:36498106:C>T,NM_001039876.2:c.344G>A,NP_001034965.1:p.Gly115Glu,3/8,\N,Unknown significance,\N,missense_variant,22.7,0.0008,1KG_AFR_AF,SYNE4
417188,19:36498114:G>A,NM_001039876.2:c.336C>T,NP_001034965.1:p.Cys112=,3/8,\N,Unknown significance,\N,synonymous_variant,1.299,0.0008,1KG_AFR_AF,SYNE4
417189,19:36498114:G>T,NM_001039876.2:c.336C>A,NP_001034965.1:p.Cys112Ter,3/8,\N,Pathogenic,DFNB76,stop_gained,32,\N,\N,SYNE4
417190,19:36498121:T>G,NM_001039876.2:c.329A>C,NP_001034965.1:p.His110Pro,3/8,\N,Likely benign,\N,missense_variant,0.435,0.0000424881,EXAC_NFE_AF,SYNE4
417191,19:36498124:A>G,NM_001039876.2:c.326T>C,NP_001034965.1:p.Leu109Pro,3/8,\N,Unknown significance,\N,missense_variant,20.5,\N,\N,SYNE4
417192,19:36498132:C>T,NM_001039876.2:c.318G>A,NP_001034965.1:p.Gln106=,3/8,\N,Unknown significance,\N,synonymous_variant,6.078,\N,\N,SYNE4
417193,19:36498133:T>G,NM_001039876.2:c.317A>C,NP_001034965.1:p.Gln106Pro,3/8,\N,Unknown significance,\N,missense_variant,23.1,0.00150937,EXAC_NFE_AF,SYNE4
417194,19:36498139:G>A,NM_001039876.2:c.311C>T,NP_001034965.1:p.Ala104Val,3/8,\N,Unknown significance,\N,missense_variant,23.3,\N,\N,SYNE4
417195,19:36498152:C>A,NM_001039876.2:c.298G>T,NP_001034965.1:p.Glu100Ter,3/8,\N,Unknown significance,\N,stop_gained,38,\N,\N,SYNE4
417196,19:36498163:A>G,NM_001039876.2:c.287T>C,NP_001034965.1:p.Ile96Thr,3/8,\N,Likely benign,\N,missense_variant,0.003,0.000120831,EVS_EA_AF,SYNE4
417197,19:36498194:A>G,NM_001039876.2:c.280-24T>C,\N,\N,2/7,Unknown significance,\N,intron_variant,5.307,0.0041,1KG_SAS_AF,SYNE4
417198,19:36498205:G>A,NM_001039876.2:c.280-35C>T,\N,\N,2/7,Unknown significance,\N,intron_variant,5.099,0.000120395,EVS_EA_AF,SYNE4
417199,19:36498207:C>A,NM_001039876.2:c.280-37G>T,\N,\N,2/7,Unknown significance,\N,intron_variant,6.353,0.000255885,EXAC_EAS_AF,SYNE4
417200,19:36498208:A>C,NM_001039876.2:c.280-38T>G,\N,\N,2/7,Unknown significance,\N,intron_variant,2.545,0.000161655,EXAC_SAS_AF,SYNE4
417201,19:36498215:A>G,NM_001039876.2:c.280-45T>C,\N,\N,2/7,Unknown significance,\N,intron_variant,3.064,0.00113766,EXAC_EAS_AF,SYNE4
417202,19:36498221:C>T,NM_001039876.2:c.280-51G>A,\N,\N,2/7,Unknown significance,\N,intron_variant,2.715,0.0000575175,EXAC_NFE_AF,SYNE4
417203,19:36498227:C>T,NM_001039876.2:c.280-57G>A,\N,\N,2/7,Unknown significance,\N,intron_variant,4.515,0.001,1KG_EAS_AF,SYNE4
417204,19:36498272:T>C,NM_001039876.2:c.280-102A>G,\N,\N,2/7,Unknown significance,\N,intron_variant,2.026,0.0045,1KG_AFR_AF,SYNE4
417205,19:36498282:C>T,NM_001039876.2:c.280-112G>A,\N,\N,2/7,Unknown significance,\N,intron_variant,8.661,0.001,1KG_SAS_AF,SYNE4
417206,19:36498288:C>T,NM_001039876.2:c.280-118G>A,\N,\N,2/7,Unknown significance,\N,intron_variant,2.962,\N,\N,SYNE4
417207,19:36498289:G>A,NM_001039876.2:c.280-119C>T,\N,\N,2/7,Unknown significance,\N,intron_variant,1.051,0.0014,1KG_AMR_AF,SYNE4
417208,19:36498296:T>C,NM_001039876.2:c.280-126A>G,\N,\N,2/7,Unknown significance,\N,intron_variant,1.392,\N,\N,SYNE4
417209,19:36498318:TG>T,NM_001039876.2:c.280-149del,\N,\N,2/7,Unknown significance,\N,intron_variant,5.85,\N,\N,SYNE4
417210,19:36498319:G>T,NM_001039876.2:c.280-149C>A,\N,\N,2/7,Unknown significance,\N,intron_variant,4.195,\N,\N,SYNE4
417211,19:36498320:G>C,NM_001039876.2:c.280-150C>G,\N,\N,2/7,Unknown significance,\N,intron_variant,2.749,\N,\N,SYNE4
417212,19:36498378:G>A,NM_001039876.2:c.280-208C>T,\N,\N,2/7,Unknown significance,\N,intron_variant,10.4,\N,\N,SYNE4
417213,19:36498390:C>A,NM_001039876.2:c.280-220G>T,\N,\N,2/7,Unknown significance,\N,intron_variant,12.69,0.0041,1KG_SAS_AF,SYNE4
417214,19:36498412:G>GC,NM_001039876.2:c.280-243dup,\N,\N,2/7,Unknown significance,\N,intron_variant,\N,\N,\N,SYNE4
417215,19:36498415:T>C,NM_001039876.2:c.280-245A>G,\N,\N,2/7,Benign,\N,intron_variant,0.161,0.674,1KG_AFR_AF,SYNE4
417216,19:36498416:G>T,NM_001039876.2:c.280-246C>A,\N,\N,2/7,Benign,\N,intron_variant,4.019,0.0068,1KG_AFR_AF,SYNE4
417217,19:36498460:A>T,NM_001039876.2:c.280-290T>A,\N,\N,2/7,Unknown significance,\N,intron_variant,0.909,\N,\N,SYNE4
417218,19:36498484:T>C,NM_001039876.2:c.280-314A>G,\N,\N,2/7,Unknown significance,\N,intron_variant,3.007,\N,\N,SYNE4
417219,19:36498488:A>G,NM_001039876.2:c.280-318T>C,\N,\N,2/7,Unknown significance,\N,intron_variant,3.319,0.001,1KG_SAS_AF,SYNE4
417220,19:36498500:C>T,NM_001039876.2:c.280-330G>A,\N,\N,2/7,Unknown significance,\N,intron_variant,1.051,\N,\N,SYNE4
417221,19:36498503:G>A,NM_001039876.2:c.280-333C>T,\N,\N,2/7,Unknown significance,\N,intron_variant,1.609,0.001,1KG_SAS_AF,SYNE4
417222,19:36498504:C>T,NM_001039876.2:c.280-334G>A,\N,\N,2/7,Benign,\N,intron_variant,1.196,0.0182,1KG_AFR_AF,SYNE4
417223,19:36498551:C>T,NM_001039876.2:c.280-381G>A,\N,\N,2/7,Benign,\N,intron_variant,0.046,0.0089,1KG_EUR_AF,SYNE4
417224,19:36498552:G>A,NM_001039876.2:c.280-382C>T,\N,\N,2/7,Unknown significance,\N,intron_variant,1.099,0.002,1KG_SAS_AF,SYNE4
417225,19:36498560:C>T,NM_001039876.2:c.280-390G>A,\N,\N,2/7,Benign,\N,intron_variant,7.794,0.0469,1KG_AFR_AF,SYNE4
417226,19:36498583:A>G,NM_001039876.2:c.280-413T>C,\N,\N,2/7,Unknown significance,\N,intron_variant,11.01,0.0008,1KG_AFR_AF,SYNE4
417227,19:36498608:A>G,NM_001039876.2:c.280-438T>C,\N,\N,2/7,Benign,\N,intron_variant,0.332,0.0068,1KG_AFR_AF,SYNE4
417228,19:36498615:CT>C,NM_001039876.2:c.280-446del,\N,\N,2/7,Unknown significance,\N,intron_variant,2.003,\N,\N,SYNE4
417229,19:36498639:A>G,NM_001039876.2:c.280-469T>C,\N,\N,2/7,Unknown significance,\N,intron_variant,0.385,0.0015,1KG_AFR_AF,SYNE4
417230,19:36498654:G>A,NM_001039876.2:c.279+465C>T,\N,\N,2/7,Unknown significance,\N,intron_variant,0.273,0.001,1KG_SAS_AF,SYNE4
417231,19:36498670:A>G,NM_001039876.2:c.279+449T>C,\N,\N,2/7,Unknown significance,\N,intron_variant,0.816,\N,\N,SYNE4
417232,19:36498681:T>C,NM_001039876.2:c.279+438A>G,\N,\N,2/7,Unknown significance,\N,intron_variant,0.395,0.0008,1KG_AFR_AF,SYNE4
417233,19:36498683:C>T,NM_001039876.2:c.279+436G>A,\N,\N,2/7,Benign,\N,intron_variant,1.026,0.0068,1KG_AFR_AF,SYNE4
417234,19:36498690:C>T,NM_001039876.2:c.279+429G>A,\N,\N,2/7,Unknown significance,\N,intron_variant,5.684,\N,\N,SYNE4
417235,19:36498699:G>A,NM_001039876.2:c.279+420C>T,\N,\N,2/7,Unknown significance,\N,intron_variant,3.927,\N,\N,SYNE4
417236,19:36498715:C>T,NM_001039876.2:c.279+404G>A,\N,\N,2/7,Unknown significance,\N,intron_variant,1.206,\N,\N,SYNE4
417237,19:36498716:G>A,NM_001039876.2:c.279+403C>T,\N,\N,2/7,Unknown significance,\N,intron_variant,3.838,0.0015,1KG_AFR_AF,SYNE4
417238,19:36498738:C>T,NM_001039876.2:c.279+381G>A,\N,\N,2/7,Unknown significance,\N,intron_variant,0.815,\N,\N,SYNE4
417239,19:36498741:C>G,NM_001039876.2:c.279+378G>C,\N,\N,2/7,Unknown significance,\N,intron_variant,1.824,0.002,1KG_SAS_AF,SYNE4
417240,19:36498791:G>C,NM_001039876.2:c.279+328C>G,\N,\N,2/7,Benign,\N,intron_variant,0.42,0.0091,1KG_AFR_AF,SYNE4
417241,19:36498813:G>C,NM_001039876.2:c.279+306C>G,\N,\N,2/7,Unknown significance,\N,intron_variant,0.187,\N,\N,SYNE4
417242,19:36498814:C>T,NM_001039876.2:c.279+305G>A,\N,\N,2/7,Unknown significance,\N,intron_variant,2.654,0.001,1KG_EUR_AF,SYNE4
417243,19:36498821:G>C,NM_001039876.2:c.279+298C>G,\N,\N,2/7,Benign,\N,intron_variant,0.537,0.1203,1KG_AFR_AF,SYNE4
417244,19:36498830:G>C,NM_001039876.2:c.279+289C>G,\N,\N,2/7,Unknown significance,\N,intron_variant,1.61,\N,\N,SYNE4
417245,19:36498859:G>A,NM_001039876.2:c.279+260C>T,\N,\N,2/7,Unknown significance,\N,intron_variant,0.659,\N,\N,SYNE4
417246,19:36498872:A>C,NM_001039876.2:c.279+247T>G,\N,\N,2/7,Unknown significance,\N,intron_variant,0.358,\N,\N,SYNE4
417247,19:36498904:G>A,NM_001039876.2:c.279+215C>T,\N,\N,2/7,Unknown significance,\N,intron_variant,4.373,\N,\N,SYNE4
417248,19:36498924:C>CA,NM_001039876.2:c.279+194dup,\N,\N,2/7,Unknown significance,\N,intron_variant,8.1,\N,\N,SYNE4
417249,19:36498932:AAAAG>A,NM_001039876.2:c.279+183_279+186del,\N,\N,2/7,Unknown significance,\N,intron_variant,1.673,0.0023,1KG_AFR_AF,SYNE4
417250,19:36498950:C>T,NM_001039876.2:c.279+169G>A,\N,\N,2/7,Unknown significance,\N,intron_variant,1.391,\N,\N,SYNE4
417251,19:36498985:C>A,NM_001039876.2:c.279+134G>T,\N,\N,2/7,Unknown significance,\N,intron_variant,8.151,0.001,1KG_EAS_AF,SYNE4
417252,19:36498992:G>A,NM_001039876.2:c.279+127C>T,\N,\N,2/7,Unknown significance,\N,intron_variant,6.369,\N,\N,SYNE4
417253,19:36499001:C>G,NM_001039876.2:c.279+118G>C,\N,\N,2/7,Benign,\N,intron_variant,5.857,0.005,1KG_EAS_AF,SYNE4
417254,19:36499043:T>C,NM_001039876.2:c.279+76A>G,\N,\N,2/7,Unknown significance,\N,intron_variant,0.601,\N,\N,SYNE4
417255,19:36499061:T>G,NM_001039876.2:c.279+58A>C,\N,\N,2/7,Benign,\N,intron_variant,6.014,0.0533,1KG_AMR_AF,SYNE4
417256,19:36499068:G>A,NM_001039876.2:c.279+51C>T,\N,\N,2/7,Unknown significance,\N,intron_variant,8.725,0.0041,1KG_SAS_AF,SYNE4
417257,19:36499076:G>A,NM_001039876.2:c.279+43C>T,\N,\N,2/7,Unknown significance,\N,intron_variant,8.737,\N,\N,SYNE4
417258,19:36499103:G>A,NM_001039876.2:c.279+16C>T,\N,\N,2/7,Unknown significance,\N,intron_variant,13.52,0.000015868,EXAC_NFE_AF,SYNE4
417259,19:36499105:T>C,NM_001039876.2:c.279+14A>G,\N,\N,2/7,Unknown significance,\N,intron_variant,13.45,0.0000475044,EXAC_NFE_AF,SYNE4
417260,19:36499108:C>G,NM_001039876.2:c.279+11G>C,\N,\N,2/7,Unknown significance,\N,intron_variant,14.23,0.0000797703,EXAC_SAS_AF,SYNE4
417261,19:36499118:C>T,NM_001039876.2:c.279+1G>A,\N,\N,2/7,Unknown significance,\N,splice_donor_variant,26.6,0.0000155371,EXAC_NFE_AF,SYNE4
417262,19:36499121:C>T,NM_001039876.2:c.277G>A,NP_001034965.1:p.Glu93Lys,2/8,\N,Unknown significance,\N,missense_variant&splice_region_variant,23.1,0.0045,1KG_AFR_AF,SYNE4
417263,19:36499130:T>G,NM_001039876.2:c.268A>C,NP_001034965.1:p.Lys90Gln,2/8,\N,Unknown significance,\N,missense_variant,19.58,0.000104428,EXAC_AFR_AF,SYNE4
417264,19:36499133:C>T,NM_001039876.2:c.265G>A,NP_001034965.1:p.Gly89Ser,2/8,\N,Likely benign,\N,missense_variant,8.969,0.0000153709,EXAC_NFE_AF,SYNE4
417265,19:36499136:C>T,NM_001039876.2:c.262G>A,NP_001034965.1:p.Gly88Arg,2/8,\N,Likely benign,\N,missense_variant,21.9,0.000120424,EVS_EA_AF,SYNE4
417266,19:36499137:A>C,NM_001039876.2:c.261T>G,NP_001034965.1:p.Ala87=,2/8,\N,Unknown significance,\N,synonymous_variant,0.735,0.000103907,EXAC_AFR_AF,SYNE4
417267,19:36499138:G>GCTGGGTC,NM_001039876.2:c.253_259dup,NP_001034965.1:p.Ala87GlyfsTer9,2/8,\N,Unknown significance,\N,frameshift_variant,25.3,0.0002149,EXAC_SAS_AF,SYNE4
417268,19:36499139:C>T,NM_001039876.2:c.259G>A,NP_001034965.1:p.Ala87Thr,2/8,\N,Likely benign,\N,missense_variant,12.9,0.00008726,EXAC_AMR_AF,SYNE4
417269,19:36499141:G>A,NM_001039876.2:c.257C>T,NP_001034965.1:p.Pro86Leu,2/8,\N,Likely benign,\N,missense_variant,18.95,0.00290456,EXAC_AFR_AF,SYNE4
417270,19:36499148:C>T,NM_001039876.2:c.250G>A,NP_001034965.1:p.Glu84Lys,2/8,\N,Likely benign,\N,missense_variant,16.99,0.001,1KG_EUR_AF,SYNE4
417271,19:36499149:G>A,NM_001039876.2:c.249C>T,NP_001034965.1:p.Tyr83=,2/8,\N,Unknown significance,\N,synonymous_variant,3.914,0.0008,1KG_AFR_AF,SYNE4
417272,19:36499155:A>G,NM_001039876.2:c.243T>C,NP_001034965.1:p.Ser81=,2/8,\N,Unknown significance,\N,synonymous_variant,6.115,0.0045,1KG_AFR_AF,SYNE4
417273,19:36499165:G>C,NM_001039876.2:c.233C>G,NP_001034965.1:p.Ser78Ter,2/8,\N,Unknown significance,\N,stop_gained,27.1,0.0000153261,EXAC_NFE_AF,SYNE4
417274,19:36499167:C>A,NM_001039876.2:c.231G>T,NP_001034965.1:p.Trp77Cys,2/8,\N,Unknown significance,\N,missense_variant,18.66,0.000120685,EVS_EA_AF,SYNE4
417275,19:36499168:CAT>C,NM_001039876.2:c.228_229del,NP_001034965.1:p.Trp77ValfsTer16,2/8,\N,Pathogenic,Hearing loss| high-frequency| progressive,frameshift_variant,21.9,\N,\N,SYNE4
417276,19:36499173:C>T,NM_001039876.2:c.225G>A,NP_001034965.1:p.Pro75=,2/8,\N,Benign,\N,synonymous_variant,9.774,0.6112,1KG_AFR_AF,SYNE4
417277,19:36499174:G>T,NM_001039876.2:c.224C>A,NP_001034965.1:p.Pro75Gln,2/8,\N,Unknown significance,\N,missense_variant,23.4,0.0000869112,EXAC_AMR_AF,SYNE4
417278,19:36499175:G>A,NM_001039876.2:c.223C>T,NP_001034965.1:p.Pro75Ser,2/8,\N,Likely benign,\N,missense_variant,12.11,0.000241896,EVS_EA_AF,SYNE4
417279,19:36499175:G>T,NM_001297735.2:c.223C>A,NP_001284664.1:p.Pro75Thr,2/6,\N,Likely benign,\N,missense_variant,12.93,0.0000153998,EXAC_NFE_AF,SYNE4
417280,19:36499176:G>T,NM_001039876.2:c.222C>A,NP_001034965.1:p.Pro74=,2/8,\N,Unknown significance,\N,synonymous_variant,0.702,0.001,1KG_EAS_AF,SYNE4
417281,19:36499178:G>T,NM_001039876.2:c.220C>A,NP_001034965.1:p.Pro74Thr,2/8,\N,Likely benign,\N,missense_variant,0.038,0.000255624,EVS_AA_AF,SYNE4
417282,19:36499181:G>A,NM_001039876.2:c.217C>T,NP_001034965.1:p.His73Tyr,2/8,\N,Likely benign,\N,missense_variant,0.453,0.000120919,EVS_EA_AF,SYNE4
417283,19:36499182:A>T,NM_001039876.2:c.216T>A,NP_001034965.1:p.Ala72=,2/8,\N,Unknown significance,\N,synonymous_variant,0.028,0.000173822,EXAC_AMR_AF,SYNE4
417284,19:36499185:G>A,NM_001039876.2:c.213C>T,NP_001034965.1:p.Ala71=,2/8,\N,Unknown significance,\N,synonymous_variant,6.645,0.0029,1KG_AMR_AF,SYNE4
417285,19:36499187:C>T,NM_001039876.2:c.211G>A,NP_001034965.1:p.Ala71Thr,2/8,\N,Likely benign,\N,missense_variant,0.002,0.0000850485,EXAC_SAS_AF,SYNE4
417286,19:36499191:C>T,NM_001039876.2:c.207G>A,NP_001034965.1:p.Glu69=,2/8,\N,Unknown significance,\N,synonymous_variant,7.6,0.0000868508,EXAC_SAS_AF,SYNE4
417287,19:36499193:C>T,NM_001039876.2:c.205G>A,NP_001034965.1:p.Glu69Lys,2/8,\N,Likely benign,\N,missense_variant,23.7,0.001,1KG_SAS_AF,SYNE4
417288,19:36499194:A>G,NM_001039876.2:c.204T>C,NP_001034965.1:p.Asn68=,2/8,\N,Unknown significance,\N,synonymous_variant,0.224,0.000254712,EVS_AA_AF,SYNE4
417289,19:36499203:T>C,NM_001039876.2:c.195A>G,NP_001034965.1:p.Pro65=,2/8,\N,Unknown significance,\N,synonymous_variant,0.008,0.0000918442,EXAC_SAS_AF,SYNE4
417290,19:36499205:G>A,NM_001039876.2:c.193C>T,NP_001034965.1:p.Pro65Ser,2/8,\N,Likely benign,\N,missense_variant,16.71,0.00001557,EXAC_NFE_AF,SYNE4
417291,19:36499206:C>T,NM_001039876.2:c.192G>A,NP_001034965.1:p.Gly64=,2/8,\N,Unknown significance,\N,synonymous_variant,9.534,0.0000155783,EXAC_NFE_AF,SYNE4
417292,19:36499221:C>T,NM_001039876.2:c.177G>A,NP_001034965.1:p.Glu59=,2/8,\N,Unknown significance,\N,synonymous_variant,12.89,0.0000968992,EXAC_SAS_AF,SYNE4
417293,19:36499228:G>A,NM_001039876.2:c.170C>T,NP_001034965.1:p.Pro57Leu,2/8,\N,Likely benign,\N,missense_variant,22.8,0.0000156544,EXAC_NFE_AF,SYNE4
417294,19:36499250:G>A,NM_001039876.2:c.148C>T,NP_001034965.1:p.Leu50=,2/8,\N,Unknown significance,\N,synonymous_variant,1.77,0.000104102,EXAC_SAS_AF,SYNE4
417295,19:36499254:C>T,NM_001039876.2:c.144G>A,NP_001034965.1:p.Gln48=,2/8,\N,Unknown significance,\N,synonymous_variant,10.77,0.000120685,EVS_EA_AF,SYNE4
417296,19:36499262:G>A,NM_001039876.2:c.136C>T,NP_001034965.1:p.Gln46Ter,2/8,\N,Unknown significance,\N,stop_gained,35,0.000120598,EVS_EA_AF,SYNE4
417297,19:36499270:C>A,NM_001039876.2:c.129-1G>T,\N,\N,1/7,Unknown significance,\N,splice_acceptor_variant,24.3,0.000120453,EVS_EA_AF,SYNE4
417298,19:36499274:G>A,NM_001039876.2:c.129-5C>T,\N,\N,1/7,Unknown significance,\N,splice_region_variant&intron_variant,9.032,0.00012025,EVS_EA_AF,SYNE4
417299,19:36499282:G>A,NM_001039876.2:c.129-13C>T,\N,\N,1/7,Unknown significance,\N,intron_variant,7.114,\N,\N,SYNE4
417300,19:36499285:C>CA,NM_001039876.2:c.129-17_129-16insT,\N,\N,1/7,Unknown significance,\N,intron_variant,8.498,0.0000874126,EXAC_AMR_AF,SYNE4
417301,19:36499285:C>T,NM_001039876.2:c.129-16G>A,\N,\N,1/7,Unknown significance,\N,intron_variant,8.748,0.0025974,EXAC_OTH_AF,SYNE4
417302,19:36499286:G>A,NM_001039876.2:c.129-17C>T,\N,\N,1/7,Benign,\N,intron_variant,6.031,0.0325,1KG_AFR_AF,SYNE4
417303,19:36499286:G>C,NM_001039876.2:c.129-17C>G,\N,\N,1/7,Unknown significance,\N,intron_variant,2.934,0.000262421,EXAC_AMR_AF,SYNE4
417304,19:36499288:T>A,NM_001039876.2:c.129-19A>T,\N,\N,1/7,Unknown significance,\N,intron_variant,7.034,\N,\N,SYNE4
417305,19:36499289:GACTGGGT>G,NM_001039876.2:c.129-27_129-21del,\N,\N,1/7,Unknown significance,\N,intron_variant,8.389,\N,\N,SYNE4
417306,19:36499293:G>A,NM_001039876.2:c.129-24C>T,\N,\N,1/7,Unknown significance,\N,intron_variant,2.465,\N,\N,SYNE4
417307,19:36499298:A>C,NM_001039876.2:c.129-29T>G,\N,\N,1/7,Unknown significance,\N,intron_variant,5.192,0.0000632651,EXAC_NFE_AF,SYNE4
417308,19:36499300:T>A,NM_001039876.2:c.129-31A>T,\N,\N,1/7,Unknown significance,\N,intron_variant,7.511,0.0003263,EXAC_SAS_AF,SYNE4
417309,19:36499304:G>A,NM_001039876.2:c.129-35C>T,\N,\N,1/7,Unknown significance,\N,intron_variant,3.909,0.000118008,EXAC_EAS_AF,SYNE4
417310,19:36499308:CCT>C,NM_001039876.2:c.129-41_129-40del,\N,\N,1/7,Unknown significance,\N,intron_variant,8.396,\N,\N,SYNE4
417311,19:36499313:C>T,NM_001039876.2:c.129-44G>A,\N,\N,1/7,Unknown significance,\N,intron_variant,4.928,0.000117869,EXAC_EAS_AF,SYNE4
417312,19:36499347:C>T,NM_001039876.2:c.129-78G>A,\N,\N,1/7,Unknown significance,\N,intron_variant,7.145,\N,\N,SYNE4
417313,19:36499354:A>G,NM_001039876.2:c.129-85T>C,\N,\N,1/7,Unknown significance,\N,intron_variant,0.342,0.001,1KG_SAS_AF,SYNE4
417314,19:36499365:C>T,NM_001039876.2:c.128+91G>A,\N,\N,1/7,Unknown significance,\N,intron_variant,8.624,\N,\N,SYNE4
417315,19:36499411:A>G,NM_001039876.2:c.128+45T>C,\N,\N,1/7,Unknown significance,\N,intron_variant,3.304,0.0000608347,EXAC_SAS_AF,SYNE4
417316,19:36499412:C>A,NM_001039876.2:c.128+44G>T,\N,\N,1/7,Unknown significance,\N,intron_variant,7.754,0.0000300589,EXAC_NFE_AF,SYNE4
417317,19:36499412:C>T,NM_001039876.2:c.128+44G>A,\N,\N,1/7,Benign,\N,intron_variant,7.309,0.00668417,EVS_EA_AF,SYNE4
417318,19:36499418:C>T,NM_001039876.2:c.128+38G>A,\N,\N,1/7,Unknown significance,\N,intron_variant,8.143,0.000115929,EXAC_EAS_AF,SYNE4
417319,19:36499420:C>T,NM_001039876.2:c.128+36G>A,\N,\N,1/7,Unknown significance,\N,intron_variant,6.209,0.000119732,EVS_EA_AF,SYNE4
417320,19:36499424:T>C,NM_001039876.2:c.128+32A>G,\N,\N,1/7,Unknown significance,\N,intron_variant,2.437,0.0000607312,EXAC_SAS_AF,SYNE4
417321,19:36499427:G>A,NM_001039876.2:c.128+29C>T,\N,\N,1/7,Unknown significance,\N,intron_variant,3.348,0.0000150222,EXAC_NFE_AF,SYNE4
417322,19:36499431:A>G,NM_001039876.2:c.128+25T>C,\N,\N,1/7,Unknown significance,\N,intron_variant,3.249,0.000345662,EXAC_AMR_AF,SYNE4
417323,19:36499436:T>A,NM_001039876.2:c.128+20A>T,\N,\N,1/7,Unknown significance,\N,intron_variant,6.394,0.000115929,EXAC_EAS_AF,SYNE4
417324,19:36499437:C>A,NM_001039876.2:c.128+19G>T,\N,\N,1/7,Unknown significance,\N,intron_variant,8.362,0.0000150222,EXAC_NFE_AF,SYNE4
417325,19:36499440:A>T,NM_001039876.2:c.128+16T>A,\N,\N,1/7,Unknown significance,\N,intron_variant,5.074,0.0000150213,EXAC_NFE_AF,SYNE4
417326,19:36499443:C>T,NM_001039876.2:c.128+13G>A,\N,\N,1/7,Unknown significance,\N,intron_variant,8.428,0.000249252,EVS_AA_AF,SYNE4
417327,19:36499446:C>T,NM_001039876.2:c.128+10G>A,\N,\N,1/7,Unknown significance,\N,intron_variant,7.417,0.001,1KG_EUR_AF,SYNE4
417328,19:36499447:G>A,NM_001039876.2:c.128+9C>T,\N,\N,1/7,Unknown significance,\N,intron_variant,7.327,0.0000606281,EXAC_SAS_AF,SYNE4
417329,19:36499454:A>G,NM_001039876.2:c.128+2T>C,\N,\N,1/7,Unknown significance,\N,splice_donor_variant,23.6,0.0000606134,EXAC_SAS_AF,SYNE4
417330,19:36499459:G>A,NM_001039876.2:c.125C>T,NP_001034965.1:p.Thr42Met,1/8,\N,Likely benign,\N,missense_variant,23.4,0.0000901388,EXAC_NFE_AF,SYNE4
417331,19:36499461:G>GCT,NM_001039876.2:c.121_122dup,NP_001034965.1:p.Ser41ArgfsTer63,1/8,\N,Unknown significance,\N,frameshift_variant,23,0.0000300445,EXAC_NFE_AF,SYNE4
417332,19:36499462:C>T,NM_001039876.2:c.122G>A,NP_001034965.1:p.Ser41Asn,1/8,\N,Likely benign,\N,missense_variant,7.522,0.0000150258,EXAC_NFE_AF,SYNE4
417333,19:36499467:C>T,NM_001039876.2:c.117G>A,NP_001034965.1:p.Glu39=,1/8,\N,Unknown significance,\N,synonymous_variant,10.5,0.0000150249,EXAC_NFE_AF,SYNE4
417334,19:36499469:C>T,NM_001039876.2:c.115G>A,NP_001034965.1:p.Glu39Lys,1/8,\N,Likely benign,\N,missense_variant,23.1,0.000345781,EXAC_AMR_AF,SYNE4
417335,19:36499470:T>G,NM_001039876.2:c.114A>C,NP_001034965.1:p.Gly38=,1/8,\N,Unknown significance,\N,synonymous_variant,0.321,0.0008,1KG_AFR_AF,SYNE4
417336,19:36499471:C>T,NM_001039876.2:c.113G>A,NP_001034965.1:p.Gly38Glu,1/8,\N,Likely benign,\N,missense_variant,4.296,0.0000606061,EXAC_SAS_AF,SYNE4
417337,19:36499472:C>G,NM_001039876.2:c.112G>C,NP_001034965.1:p.Gly38Arg,1/8,\N,Unknown significance,\N,missense_variant,22.9,0.000102187,EXAC_AFR_AF,SYNE4
417338,19:36499472:C>T,NM_001039876.2:c.112G>A,NP_001034965.1:p.Gly38Arg,1/8,\N,Unknown significance,\N,missense_variant,23.1,0.000172921,EXAC_AMR_AF,SYNE4
417339,19:36499473:G>A,NM_001039876.2:c.111C>T,NP_001034965.1:p.Ser37=,1/8,\N,Unknown significance,\N,synonymous_variant,8.554,0.0000864603,EXAC_AMR_AF,SYNE4
417340,19:36499473:G>C,NM_001039876.2:c.111C>G,NP_001034965.1:p.Ser37=,1/8,\N,Unknown significance,\N,synonymous_variant,6.021,0.0000150272,EXAC_NFE_AF,SYNE4
417341,19:36499474:G>C,NM_001039876.2:c.110C>G,NP_001034965.1:p.Ser37Cys,1/8,\N,Unknown significance,\N,missense_variant,14.19,0.0000150267,EXAC_NFE_AF,SYNE4
417342,19:36499475:A>G,NM_001039876.2:c.109T>C,NP_001034965.1:p.Ser37Pro,1/8,\N,Likely benign,\N,missense_variant,5.164,0.0000150267,EXAC_NFE_AF,SYNE4
417343,19:36499476:C>T,NM_001039876.2:c.108G>A,NP_001034965.1:p.Ala36=,1/8,\N,Unknown significance,\N,synonymous_variant,13.31,0.0000606061,EXAC_SAS_AF,SYNE4
417344,19:36499478:C>T,NM_001039876.2:c.106G>A,NP_001034965.1:p.Ala36Thr,1/8,\N,Unknown significance,\N,missense_variant,23.7,0.000102208,EXAC_AFR_AF,SYNE4
417345,19:36499479:G>A,NM_001039876.2:c.105C>T,NP_001034965.1:p.Pro35=,1/8,\N,Unknown significance,\N,synonymous_variant,8.755,0.001,1KG_EAS_AF,SYNE4
417346,19:36499484:A>C,NM_001297735.2:c.100T>G,NP_001284664.1:p.Cys34Gly,1/6,\N,Unknown significance,\N,missense_variant,22.5,0.000231965,EXAC_EAS_AF,SYNE4
417347,19:36499487:C>G,NM_001039876.2:c.97G>C,NP_001034965.1:p.Val33Leu,1/8,\N,Likely benign,\N,missense_variant,14.77,0.0000150412,EXAC_NFE_AF,SYNE4
417348,19:36499487:C>T,NM_001039876.2:c.97G>A,NP_001034965.1:p.Val33Ile,1/8,\N,Likely benign,\N,missense_variant,6.952,0.000614251,EXAC_AFR_AF,SYNE4
417349,19:36499488:G>A,NM_001039876.2:c.96C>T,NP_001034965.1:p.Thr32=,1/8,\N,Benign,\N,synonymous_variant,9.309,0.0131619,EXAC_FIN_AF,SYNE4
417350,19:36499489:G>C,NM_001039876.2:c.95C>G,NP_001034965.1:p.Thr32Ser,1/8,\N,Unknown significance,\N,missense_variant,22.6,0.001,1KG_SAS_AF,SYNE4
417351,19:36499489:G>T,NM_001297735.2:c.95C>A,NP_001284664.1:p.Thr32Asn,1/6,\N,Unknown significance,\N,missense_variant,22.6,0.000765697,EXAC_FIN_AF,SYNE4
417352,19:36499497:A>G,NM_001039876.2:c.87T>C,NP_001034965.1:p.Val29=,1/8,\N,Unknown significance,\N,synonymous_variant,0.875,0.0000606575,EXAC_SAS_AF,SYNE4
417353,19:36499500:A>C,NM_001039876.2:c.84T>G,NP_001034965.1:p.Ile28Met,1/8,\N,Likely benign,\N,missense_variant,2.936,0.001,1KG_EUR_AF,SYNE4
417354,19:36499502:T>C,NM_001039876.2:c.82A>G,NP_001034965.1:p.Ile28Val,1/8,\N,Likely benign,\N,missense_variant,0.001,0.0000606722,EXAC_SAS_AF,SYNE4
417355,19:36499507:G>A,NM_001039876.2:c.77C>T,NP_001034965.1:p.Ala26Val,1/8,\N,Likely benign,\N,missense_variant,0.499,0.00104457,EXAC_EAS_AF,SYNE4
417356,19:36499515:A>G,NM_001039876.2:c.69T>C,NP_001034965.1:p.Pro23=,1/8,\N,Unknown significance,\N,synonymous_variant,0.155,\N,\N,SYNE4
417357,19:36499517:G>C,NM_001039876.2:c.67C>G,NP_001034965.1:p.Pro23Ala,1/8,\N,Unknown significance,\N,missense_variant,23.4,0.000183599,EXAC_SAS_AF,SYNE4
417358,19:36499526:G>A,NM_001039876.2:c.58C>T,NP_001034965.1:p.Pro20Ser,1/8,\N,Unknown significance,\N,missense_variant,23.1,0.0000308785,EXAC_NFE_AF,SYNE4
417359,19:36499537:AG>A,NM_001039876.2:c.46del,NP_001034965.1:p.Leu16SerfsTer87,1/8,\N,Unknown significance,\N,frameshift_variant,1.628,0.0000158183,EXAC_NFE_AF,SYNE4
417360,19:36499540:G>C,NM_001039876.2:c.44C>G,NP_001034965.1:p.Pro15Arg,1/8,\N,Unknown significance,\N,missense_variant,23.3,0.000015867,EXAC_NFE_AF,SYNE4
417361,19:36499557:A>G,NM_001039876.2:c.27T>C,NP_001034965.1:p.Pro9=,1/8,\N,Unknown significance,\N,synonymous_variant,8.29,0.001,1KG_SAS_AF,SYNE4
417362,19:36499558:G>A,NM_001297735.2:c.26C>T,NP_001284664.1:p.Pro9Leu,1/6,\N,Likely benign,\N,missense_variant,15.37,0.00074611,EXAC_AMR_AF,SYNE4
417363,19:36499562:C>T,NM_001039876.2:c.22G>A,NP_001034965.1:p.Gly8Ser,1/8,\N,Likely benign,\N,missense_variant,25.4,0.000254712,EVS_AA_AF,SYNE4
417364,19:36499565:G>C,NM_001039876.2:c.19C>G,NP_001034965.1:p.Leu7Val,1/8,\N,Unknown significance,\N,missense_variant,23.7,\N,\N,SYNE4
417365,19:36499574:A>G,NM_001039876.2:c.10T>C,NP_001034965.1:p.Ser4Pro,1/8,\N,Likely benign,\N,missense_variant,22.8,0.0000361076,EXAC_NFE_AF,SYNE4
417366,19:36499577:G>A,NM_001039876.2:c.7C>T,NP_001034965.1:p.Leu3=,1/8,\N,Benign,\N,synonymous_variant,15.68,0.0058,1KG_AMR_AF,SYNE4
417367,19:36499582:A>C,NM_001039876.2:c.2T>G,NP_001034965.1:p.Met1?,1/8,\N,Unknown significance,\N,start_lost,25.5,0.000133333,EXAC_AMR_AF,SYNE4
417368,19:36499592:G>T,NM_001039876.2:c.-9C>A,\N,1/8,\N,Unknown significance,\N,5_prime_UTR_variant,8.512,0.000152999,EXAC_EAS_AF,SYNE4
417369,19:36499593:C>T,NM_001039876.2:c.-10G>A,\N,1/8,\N,Unknown significance,\N,5_prime_UTR_variant,9.565,0.000252781,EVS_AA_AF,SYNE4
417370,19:36499605:A>C,NM_001039876.2:c.-22T>G,\N,1/8,\N,Benign,\N,5_prime_UTR_variant,5.043,0.0195248,EXAC_AFR_AF,SYNE4
417371,19:36499610:A>G,NM_001039876.2:c.-27T>C,\N,1/8,\N,Unknown significance,\N,5_prime_UTR_variant,9.658,0.0000219327,EXAC_NFE_AF,SYNE4
417372,19:36499612:G>C,NM_001039876.2:c.-29C>G,\N,1/8,\N,Unknown significance,\N,5_prime_UTR_variant,5.465,0.000174155,EXAC_AMR_AF,SYNE4
417373,19:36499613:T>G,NM_001039876.2:c.-30A>C,\N,1/8,\N,Unknown significance,\N,5_prime_UTR_variant,10.58,0.000142531,EXAC_AFR_AF,SYNE4
417374,19:36499615:A>G,NM_001039876.2:c.-32T>C,\N,1/8,\N,Unknown significance,\N,5_prime_UTR_variant,10.66,0.000435793,EXAC_AFR_AF,SYNE4
417375,19:36499617:G>T,NM_001039876.2:c.-34C>A,\N,1/8,\N,Unknown significance,\N,5_prime_UTR_variant,10.51,0.0000998403,EXAC_SAS_AF,SYNE4
417376,19:36499618:G>C,NM_001039876.2:c.-35C>G,\N,1/8,\N,Unknown significance,\N,5_prime_UTR_variant,7.991,\N,\N,SYNE4
417377,19:36499625:G>A,NM_001039876.2:c.-42C>T,\N,1/8,\N,Unknown significance,\N,5_prime_UTR_variant,11.99,0.000289436,EXAC_AFR_AF,SYNE4
417378,19:36499627:A>G,NM_001039876.2:c.-44T>C,\N,1/8,\N,Unknown significance,\N,5_prime_UTR_variant,12.04,0.00025113,EVS_AA_AF,SYNE4
417379,19:36499629:G>A,NM_001039876.2:c.-46C>T,\N,1/8,\N,Unknown significance,\N,5_prime_UTR_variant,12.92,0.000250752,EVS_AA_AF,SYNE4
417380,19:36499630:A>T,NM_001039876.2:c.-47T>A,\N,1/8,\N,Unknown significance,\N,5_prime_UTR_variant,11.3,0.000187547,EXAC_EAS_AF,SYNE4
417381,19:36499652:T>A,NM_001039876.2:c.-69A>T,\N,1/8,\N,Unknown significance,\N,5_prime_UTR_variant,7.576,\N,\N,SYNE4
417382,19:36499655:C>T,NM_001039876.2:c.-72G>A,\N,1/8,\N,Unknown significance,\N,5_prime_UTR_variant,9.083,0.0008,1KG_AFR_AF,SYNE