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
682986,5:149737204:A>C,NM_001135243.1:c.-106A>C,\N,1/27,\N,Benign,\N,5_prime_UTR_variant,8.852,0.0119,1KG_EAS_AF,TCOF1
682987,5:149737221:T>G,NM_001135243.1:c.-89T>G,\N,1/27,\N,Benign,\N,5_prime_UTR_variant,16.05,1,1KG_AFR_AF|1KG_AMR_AF|1KG_EAS_AF|1KG_SAS_AF,TCOF1
682988,5:149737249:A>G,NM_001135243.1:c.-61A>G,\N,1/27,\N,Unknown significance,\N,5_prime_UTR_variant,18.58,0.001,1KG_EAS_AF,TCOF1
682989,5:149737251:G>A,NM_001135243.1:c.-59G>A,\N,1/27,\N,Likely benign,Treacher collins syndrome 1,5_prime_UTR_variant,18.97,0.0031,1KG_SAS_AF,TCOF1
682990,5:149737255:C>T,NM_001135243.1:c.-55C>T,\N,1/27,\N,Unknown significance,\N,5_prime_UTR_variant,21,0.001,1KG_EAS_AF,TCOF1
682991,5:149737264:A>G,NM_001135243.1:c.-46A>G,\N,1/27,\N,Benign,\N,5_prime_UTR_variant,14.8,0.015625,EXAC_OTH_AF,TCOF1
682992,5:149737271:C>T,NM_001135243.1:c.-39C>T,\N,1/27,\N,Unknown significance,\N,5_prime_UTR_variant,12.27,0.000507614,EXAC_NFE_AF,TCOF1
682993,5:149737278:T>G,NM_001135243.1:c.-32T>G,\N,1/27,\N,Unknown significance,\N,5_prime_UTR_variant,14.65,0.000130651,EXAC_SAS_AF,TCOF1
682994,5:149737281:A>G,NM_001135243.1:c.-29A>G,\N,1/27,\N,Unknown significance,\N,5_prime_UTR_variant,14.5,0.00143266,EXAC_SAS_AF,TCOF1
682995,5:149737282:G>A,NM_001135243.1:c.-28G>A,\N,1/27,\N,Unknown significance,\N,5_prime_UTR_variant,14.67,0.001,1KG_SAS_AF,TCOF1
682996,5:149737284:T>A,NM_001135243.1:c.-26T>A,\N,1/27,\N,Benign,\N,5_prime_UTR_variant,15.52,0.00704225,EXAC_EAS_AF,TCOF1
682997,5:149737285:A>AGCCG,NM_001135243.1:c.-15_-12dup,\N,1/27,\N,Unknown significance,\N,5_prime_UTR_variant,11.62,0.000229253,EXAC_NFE_AF,TCOF1
682998,5:149737291:C>T,NM_001135243.1:c.-19C>T,\N,1/27,\N,Unknown significance,\N,5_prime_UTR_variant,13.22,0.000440335,EXAC_NFE_AF,TCOF1
682999,5:149737295:C>G,NM_001135243.1:c.-15C>G,\N,1/27,\N,Unknown significance,\N,5_prime_UTR_variant,7.853,0.001,1KG_EAS_AF,TCOF1
683000,5:149737296:C>T,NM_001135243.1:c.-14C>T,\N,1/27,\N,Unknown significance,\N,5_prime_UTR_variant,16.8,0.000129166,EXAC_SAS_AF,TCOF1
683001,5:149737305:C>T,NM_001135243.1:c.-5C>T,\N,1/27,\N,Unknown significance,\N,5_prime_UTR_variant,18.1,0.00364964,EXAC_AMR_AF,TCOF1
683002,5:149737306:G>A,NM_001135243.1:c.-4G>A,\N,1/27,\N,Unknown significance,\N,5_prime_UTR_variant,19.09,\N,\N,TCOF1
683003,5:149737310:A>T,NM_001008657.2:c.1A>T,NP_001008657.1:p.Met1?,1/18,\N,Pathogenic,Treacher-Collins syndrome,start_lost,26.9,\N,\N,TCOF1
683004,5:149737312:G>A,NM_000356.3:c.3G>A,NP_000347.2:p.Met1?,1/26,\N,Pathogenic,Treacher-Collins syndrome,start_lost,28.9,\N,\N,TCOF1
683005,5:149737317:A>C,NM_000356.3:c.8A>C,NP_000347.2:p.Glu3Ala,1/26,\N,Unknown significance,\N,missense_variant,28.1,0.000127681,EXAC_SAS_AF,TCOF1
683006,5:149737336:GC>G,NM_001135243.1:c.28del,NP_001128715.1:p.Leu10TyrfsTer4,1/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,34,\N,\N,TCOF1
683007,5:149737349:A>T,NM_001135243.1:c.40A>T,NP_001128715.1:p.Ile14Phe,1/27,\N,Pathogenic,Treacher-Collins syndrome,missense_variant,28.2,\N,\N,TCOF1
683008,5:149737349:AT>A,NM_001135243.1:c.41del,NP_001128715.1:p.Ile14ThrfsTer17,1/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,29.6,\N,\N,TCOF1
683009,5:149737351:C>G,NM_001135243.1:c.42C>G,NP_001128715.1:p.Ile14Met,1/27,\N,Pathogenic,Treacher-Collins syndrome,missense_variant,26.4,\N,\N,TCOF1
683010,5:149737352:T>C,NM_001135243.1:c.43T>C,NP_001128715.1:p.Tyr15His,1/27,\N,Likely benign,\N,missense_variant,23.6,0.000141804,EXAC_NFE_AF,TCOF1
683011,5:149737352:TACC>T,NM_001135243.1:c.48_50del,NP_001128715.1:p.His17del,1/27,\N,Pathogenic,Treacher-Collins syndrome,inframe_deletion,22.6,\N,\N,TCOF1
683012,5:149737359:A>G,NM_001135243.1:c.50A>G,NP_001128715.1:p.His17Arg,1/27,\N,Pathogenic,Treacher-Collins syndrome,missense_variant,25.7,\N,\N,TCOF1
683013,5:149737367:CG>C,NM_001135243.1:c.61del,NP_001128715.1:p.Ala21LeufsTer10,1/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,31,\N,\N,TCOF1
683014,5:149737370:G>C,NM_001135243.1:c.61G>C,NP_001128715.1:p.Ala21Pro,1/27,\N,Pathogenic,Treacher-Collins syndrome,missense_variant,27.5,\N,\N,TCOF1
683015,5:149737386:C>T,NM_001135243.1:c.77C>T,NP_001128715.1:p.Ala26Val,1/27,\N,Pathogenic,Treacher-Collins syndrome,missense_variant,34,\N,\N,TCOF1
683016,5:149737387:G>A,NM_001135243.1:c.78G>A,NP_001128715.1:p.Ala26=,1/27,\N,Unknown significance,\N,synonymous_variant,19.04,0.000138313,EXAC_NFE_AF,TCOF1
683017,5:149737388:G>A,NM_001135243.1:c.79G>A,NP_001128715.1:p.Ala27Thr,1/27,\N,Pathogenic,Treacher-Collins syndrome,missense_variant,25.3,\N,\N,TCOF1
683018,5:149737394:GA>G,NM_001135243.1:c.87del,NP_001128715.1:p.Val30Ter,1/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,24.4,\N,\N,TCOF1
683019,5:149737415:C>T,NM_001135243.1:c.106C>T,NP_001128715.1:p.Gln36Ter,1/27,\N,Pathogenic,Treacher-Collins syndrome,stop_gained&splice_region_variant,36,\N,\N,TCOF1
683020,5:149737432:G>A,NM_001135243.1:c.108+15G>A,\N,\N,1/26,Unknown significance,\N,intron_variant,15.08,0.000147145,EXAC_NFE_AF,TCOF1
683021,5:149737445:G>A,NM_001135243.1:c.108+28G>A,\N,\N,1/26,Unknown significance,\N,intron_variant,14.98,0.000127812,EXAC_SAS_AF,TCOF1
683022,5:149737450:G>T,NM_001135243.1:c.108+33G>T,\N,\N,1/26,Unknown significance,\N,intron_variant,14.81,0.00012791,EXAC_SAS_AF,TCOF1
683023,5:149737456:G>A,NM_001135243.1:c.108+39G>A,\N,\N,1/26,Unknown significance,\N,intron_variant,11.71,0.000159439,EXAC_NFE_AF,TCOF1
683024,5:149737463:A>G,NM_001135243.1:c.108+46A>G,\N,\N,1/26,Unknown significance,\N,intron_variant,9.5,0.001,1KG_EUR_AF,TCOF1
683025,5:149737468:AGCGGCCC>A,NM_001135243.1:c.108+62_108+68del,\N,\N,1/26,Benign,\N,intron_variant,7.873,0.0109,1KG_EAS_AF,TCOF1
683026,5:149737478:G>C,NM_001135243.1:c.108+61G>C,\N,\N,1/26,Unknown significance,\N,intron_variant,5.267,0.001,1KG_EAS_AF,TCOF1
683027,5:149737484:C>T,NM_001135243.1:c.108+67C>T,\N,\N,1/26,Unknown significance,\N,intron_variant,9.346,0.002,1KG_SAS_AF,TCOF1
683028,5:149737575:C>G,NM_001135243.1:c.108+158C>G,\N,\N,1/26,Unknown significance,\N,intron_variant,6.214,\N,\N,TCOF1
683029,5:149737613:C>T,NM_001135243.1:c.108+196C>T,\N,\N,1/26,Unknown significance,\N,intron_variant,11.33,\N,\N,TCOF1
683030,5:149737617:C>T,NM_001135243.1:c.108+200C>T,\N,\N,1/26,Unknown significance,\N,intron_variant,11.79,0,1KG_ALL_AF|1KG_AFR_AF|1KG_AMR_AF|1KG_EAS_AF|1KG_EUR_AF|1KG_SAS_AF,TCOF1
683031,5:149737655:G>T,NM_001135243.1:c.108+238G>T,\N,\N,1/26,Unknown significance,\N,intron_variant,2.764,0.001,1KG_EUR_AF,TCOF1
683032,5:149737664:G>A,NM_001135243.1:c.108+247G>A,\N,\N,1/26,Unknown significance,\N,intron_variant,8.324,\N,\N,TCOF1
683033,5:149737670:T>C,NM_001135243.1:c.108+253T>C,\N,\N,1/26,Unknown significance,\N,intron_variant,10.15,0.0031,1KG_SAS_AF,TCOF1
683034,5:149737728:C>T,NM_001135243.1:c.108+311C>T,\N,\N,1/26,Unknown significance,\N,intron_variant,12.37,0.001,1KG_SAS_AF,TCOF1
683035,5:149737761:G>T,NM_001135243.1:c.108+344G>T,\N,\N,1/26,Unknown significance,\N,intron_variant,2.822,0.0008,1KG_AFR_AF,TCOF1
683036,5:149737764:C>T,NM_001135243.1:c.108+347C>T,\N,\N,1/26,Unknown significance,\N,intron_variant,7.655,\N,\N,TCOF1
683037,5:149737774:G>A,NM_001135243.1:c.108+357G>A,\N,\N,1/26,Unknown significance,\N,intron_variant,2.962,0.0008,1KG_AFR_AF,TCOF1
683038,5:149737809:C>T,NM_001135243.1:c.108+392C>T,\N,\N,1/26,Unknown significance,\N,intron_variant,7.443,0.0023,1KG_AFR_AF,TCOF1
683039,5:149737823:G>A,NM_001135243.1:c.108+406G>A,\N,\N,1/26,Unknown significance,\N,intron_variant,7.141,0.0015,1KG_AFR_AF,TCOF1
683040,5:149737823:G>C,NM_001135243.1:c.108+406G>C,\N,\N,1/26,Benign,\N,intron_variant,4.899,0.0272,1KG_AFR_AF,TCOF1
683041,5:149737826:G>A,NM_001135243.1:c.108+409G>A,\N,\N,1/26,Unknown significance,\N,intron_variant,6.704,0.001,1KG_EUR_AF,TCOF1
683042,5:149737844:C>T,NM_001135243.1:c.108+427C>T,\N,\N,1/26,Unknown significance,\N,intron_variant,6.487,0.0008,1KG_AFR_AF,TCOF1
683043,5:149737913:G>A,NM_001135243.1:c.108+496G>A,\N,\N,1/26,Unknown significance,\N,intron_variant,6.4,\N,\N,TCOF1
683044,5:149737916:A>G,NM_001135243.1:c.108+499A>G,\N,\N,1/26,Unknown significance,\N,intron_variant,5.299,0.0043,1KG_AMR_AF,TCOF1
683045,5:149737919:C>G,NM_001135243.1:c.108+502C>G,\N,\N,1/26,Unknown significance,\N,intron_variant,6.943,\N,\N,TCOF1
683046,5:149737954:T>C,NM_001135243.1:c.108+537T>C,\N,\N,1/26,Benign,\N,intron_variant,7.179,0.1278,1KG_SAS_AF,TCOF1
683047,5:149737955:T>C,NM_001135243.1:c.108+538T>C,\N,\N,1/26,Unknown significance,\N,intron_variant,7.883,\N,\N,TCOF1
683048,5:149737959:C>T,NM_001135243.1:c.108+542C>T,\N,\N,1/26,Benign,\N,intron_variant,7.953,0.0092,1KG_SAS_AF,TCOF1
683049,5:149737969:G>A,NM_001135243.1:c.108+552G>A,\N,\N,1/26,Unknown significance,\N,intron_variant,6.978,0.001,1KG_SAS_AF,TCOF1
683050,5:149737980:T>A,NM_001135243.1:c.108+563T>A,\N,\N,1/26,Unknown significance,\N,intron_variant,4.33,0.0031,1KG_SAS_AF,TCOF1
683051,5:149738009:A>G,NM_001135243.1:c.108+592A>G,\N,\N,1/26,Benign,\N,intron_variant,6.324,0.0673,1KG_AFR_AF,TCOF1
683052,5:149738011:C>G,NM_001135243.1:c.108+594C>G,\N,\N,1/26,Unknown significance,\N,intron_variant,5.608,\N,\N,TCOF1
683053,5:149738011:C>T,NM_001135243.1:c.108+594C>T,\N,\N,1/26,Unknown significance,\N,intron_variant,6.903,\N,\N,TCOF1
683054,5:149738023:C>T,NM_001135243.1:c.108+606C>T,\N,\N,1/26,Unknown significance,\N,intron_variant,9.457,\N,\N,TCOF1
683055,5:149738024:T>A,NM_001135243.1:c.108+607T>A,\N,\N,1/26,Unknown significance,\N,intron_variant,9.963,\N,\N,TCOF1
683056,5:149738148:C>T,NM_001135243.1:c.108+731C>T,\N,\N,1/26,Unknown significance,\N,intron_variant,13.26,\N,\N,TCOF1
683057,5:149738161:A>G,NM_001135243.1:c.108+744A>G,\N,\N,1/26,Unknown significance,\N,intron_variant,7.317,\N,\N,TCOF1
683058,5:149738181:C>T,NM_001135243.1:c.108+764C>T,\N,\N,1/26,Unknown significance,\N,intron_variant,4.344,\N,\N,TCOF1
683059,5:149738208:T>C,NM_001135243.1:c.108+791T>C,\N,\N,1/26,Benign,\N,intron_variant,3.95,0.0069,1KG_EAS_AF,TCOF1
683060,5:149738252:T>C,NM_001135243.1:c.108+835T>C,\N,\N,1/26,Unknown significance,\N,intron_variant,3.699,0.001,1KG_SAS_AF,TCOF1
683061,5:149738268:C>T,NM_001135243.1:c.108+851C>T,\N,\N,1/26,Benign,\N,intron_variant,2.49,0.0567,1KG_AFR_AF,TCOF1
683062,5:149738289:A>G,NM_001135243.1:c.108+872A>G,\N,\N,1/26,Unknown significance,\N,intron_variant,2.423,\N,\N,TCOF1
683063,5:149738335:G>A,NM_001135243.1:c.108+918G>A,\N,\N,1/26,Unknown significance,\N,intron_variant,1.34,0.001,1KG_EAS_AF,TCOF1
683064,5:149738336:G>A,NM_001135243.1:c.108+919G>A,\N,\N,1/26,Unknown significance,\N,intron_variant,4.548,0.001,1KG_SAS_AF,TCOF1
683065,5:149738342:A>G,NM_001135243.1:c.108+925A>G,\N,\N,1/26,Unknown significance,\N,intron_variant,1.052,0.0008,1KG_AFR_AF,TCOF1
683066,5:149738344:G>T,NM_001135243.1:c.108+927G>T,\N,\N,1/26,Unknown significance,\N,intron_variant,1.546,\N,\N,TCOF1
683067,5:149738355:G>A,NM_001135243.1:c.108+938G>A,\N,\N,1/26,Unknown significance,\N,intron_variant,0.068,0.0014,1KG_AMR_AF,TCOF1
683068,5:149738378:C>G,NM_001135243.1:c.108+961C>G,\N,\N,1/26,Unknown significance,\N,intron_variant,0.517,\N,\N,TCOF1
683069,5:149738386:C>T,NM_001135243.1:c.108+969C>T,\N,\N,1/26,Unknown significance,\N,intron_variant,1.051,\N,\N,TCOF1
683070,5:149738390:ACT>A,NM_001135243.1:c.108+976_108+977del,\N,\N,1/26,Benign,\N,intron_variant,6.563,0.0106,1KG_AFR_AF,TCOF1
683071,5:149738423:C>A,NM_001135243.1:c.108+1006C>A,\N,\N,1/26,Benign,\N,intron_variant,3.266,0.0053,1KG_AFR_AF,TCOF1
683072,5:149738484:T>C,NM_001135243.1:c.108+1067T>C,\N,\N,1/26,Unknown significance,\N,intron_variant,1.195,\N,\N,TCOF1
683073,5:149738519:C>T,NM_001135243.1:c.108+1102C>T,\N,\N,1/26,Unknown significance,\N,intron_variant,3.469,\N,\N,TCOF1
683074,5:149738522:A>C,NM_001135243.1:c.108+1105A>C,\N,\N,1/26,Unknown significance,\N,intron_variant,0.101,0.002,1KG_EAS_AF,TCOF1
683075,5:149738533:G>T,NM_001135243.1:c.108+1116G>T,\N,\N,1/26,Unknown significance,\N,intron_variant,1.9,\N,\N,TCOF1
683076,5:149738535:T>C,NM_001135243.1:c.108+1118T>C,\N,\N,1/26,Benign,\N,intron_variant,2.592,0.0061,1KG_AFR_AF,TCOF1
683077,5:149738538:A>C,NM_001135243.1:c.108+1121A>C,\N,\N,1/26,Unknown significance,\N,intron_variant,0.179,\N,\N,TCOF1
683078,5:149738542:T>A,NM_001135243.1:c.108+1125T>A,\N,\N,1/26,Unknown significance,\N,intron_variant,3.495,\N,\N,TCOF1
683079,5:149738579:A>G,NM_001135243.1:c.108+1162A>G,\N,\N,1/26,Unknown significance,\N,intron_variant,2.113,\N,\N,TCOF1
683080,5:149738598:C>CA,NM_001135243.1:c.108+1190dup,\N,\N,1/26,Unknown significance,\N,intron_variant,\N,\N,\N,TCOF1
683081,5:149738608:T>A,NM_001135243.1:c.108+1191T>A,\N,\N,1/26,Benign,\N,intron_variant,0.483,0.121,1KG_EAS_AF,TCOF1
683082,5:149738617:A>G,NM_001135243.1:c.108+1200A>G,\N,\N,1/26,Unknown significance,\N,intron_variant,0.93,\N,\N,TCOF1
683083,5:149738632:A>C,NM_001135243.1:c.108+1215A>C,\N,\N,1/26,Unknown significance,\N,intron_variant,0.339,\N,\N,TCOF1
683084,5:149738632:A>G,NM_001135243.1:c.108+1215A>G,\N,\N,1/26,Unknown significance,\N,intron_variant,0.885,\N,\N,TCOF1
683085,5:149738659:C>T,NM_001135243.1:c.108+1242C>T,\N,\N,1/26,Benign,\N,intron_variant,2.822,0.0051,1KG_SAS_AF,TCOF1
683086,5:149738676:G>A,NM_001135243.1:c.108+1259G>A,\N,\N,1/26,Unknown significance,\N,intron_variant,0.291,\N,\N,TCOF1
683087,5:149738717:C>G,NM_001135243.1:c.108+1300C>G,\N,\N,1/26,Unknown significance,\N,intron_variant,2.481,\N,\N,TCOF1
683088,5:149738731:G>T,NM_001135243.1:c.108+1314G>T,\N,\N,1/26,Unknown significance,\N,intron_variant,0.973,0.001,1KG_EAS_AF,TCOF1
683089,5:149738736:C>G,NM_001135243.1:c.108+1319C>G,\N,\N,1/26,Unknown significance,\N,intron_variant,0.796,0.002,1KG_EUR_AF,TCOF1
683090,5:149738755:C>T,NM_001135243.1:c.108+1338C>T,\N,\N,1/26,Unknown significance,\N,intron_variant,2.279,0.002,1KG_SAS_AF,TCOF1
683091,5:149738760:A>T,NM_001135243.1:c.108+1343A>T,\N,\N,1/26,Benign,\N,intron_variant,0.074,0.123,1KG_EAS_AF,TCOF1
683092,5:149738772:T>C,NM_001135243.1:c.108+1355T>C,\N,\N,1/26,Unknown significance,\N,intron_variant,1.29,\N,\N,TCOF1
683093,5:149738779:A>G,NM_001135243.1:c.108+1362A>G,\N,\N,1/26,Unknown significance,\N,intron_variant,1.933,\N,\N,TCOF1
683094,5:149738798:T>C,NM_001135243.1:c.108+1381T>C,\N,\N,1/26,Unknown significance,\N,intron_variant,8.971,\N,\N,TCOF1
683095,5:149738802:C>T,NM_001135243.1:c.108+1385C>T,\N,\N,1/26,Unknown significance,\N,intron_variant,6.723,\N,\N,TCOF1
683096,5:149738805:G>A,NM_001135243.1:c.108+1388G>A,\N,\N,1/26,Unknown significance,\N,intron_variant,9,\N,\N,TCOF1
683097,5:149738808:G>T,NM_001135243.1:c.108+1391G>T,\N,\N,1/26,Unknown significance,\N,intron_variant,6.828,0.0023,1KG_AFR_AF,TCOF1
683098,5:149738876:C>A,NM_001135243.1:c.108+1459C>A,\N,\N,1/26,Unknown significance,\N,intron_variant,3.138,\N,\N,TCOF1
683099,5:149738894:G>A,NM_001135243.1:c.108+1477G>A,\N,\N,1/26,Benign,\N,intron_variant,0.722,0.0666,1KG_AFR_AF,TCOF1
683100,5:149738896:C>T,NM_001135243.1:c.108+1479C>T,\N,\N,1/26,Unknown significance,\N,intron_variant,2.327,0.0014,1KG_AMR_AF,TCOF1
683101,5:149738909:CA>C,NM_001135243.1:c.108+1506del,\N,\N,1/26,Unknown significance,\N,intron_variant,4.489,\N,\N,TCOF1
683102,5:149738989:TG>T,NM_001135243.1:c.108+1574del,\N,\N,1/26,Unknown significance,\N,intron_variant,\N,\N,\N,TCOF1
683103,5:149739010:C>T,NM_001135243.1:c.108+1593C>T,\N,\N,1/26,Unknown significance,\N,intron_variant,6.192,0.0014,1KG_AMR_AF,TCOF1
683104,5:149739012:G>A,NM_001135243.1:c.108+1595G>A,\N,\N,1/26,Unknown significance,\N,intron_variant,4.989,0.0008,1KG_AFR_AF,TCOF1
683105,5:149739027:G>A,NM_001135243.1:c.108+1610G>A,\N,\N,1/26,Unknown significance,\N,intron_variant,2.008,0.003,1KG_EUR_AF,TCOF1
683106,5:149739119:C>G,NM_001135243.1:c.109-1600C>G,\N,\N,1/26,Benign,\N,intron_variant,1.82,0.2734,1KG_EUR_AF,TCOF1
683107,5:149739161:G>C,NM_001135243.1:c.109-1558G>C,\N,\N,1/26,Unknown significance,\N,intron_variant,1.72,\N,\N,TCOF1
683108,5:149739201:C>G,NM_001135243.1:c.109-1518C>G,\N,\N,1/26,Unknown significance,\N,intron_variant,1.717,\N,\N,TCOF1
683109,5:149739225:C>T,NM_001135243.1:c.109-1494C>T,\N,\N,1/26,Unknown significance,\N,intron_variant,2.132,0.0015,1KG_AFR_AF,TCOF1
683110,5:149739232:A>G,NM_001135243.1:c.109-1487A>G,\N,\N,1/26,Unknown significance,\N,intron_variant,4.405,\N,\N,TCOF1
683111,5:149739235:G>A,NM_001135243.1:c.109-1484G>A,\N,\N,1/26,Unknown significance,\N,intron_variant,1.02,0.001,1KG_SAS_AF,TCOF1
683112,5:149739277:A>G,NM_001135243.1:c.109-1442A>G,\N,\N,1/26,Unknown significance,\N,intron_variant,2.075,\N,\N,TCOF1
683113,5:149739278:T>C,NM_001135243.1:c.109-1441T>C,\N,\N,1/26,Unknown significance,\N,intron_variant,4.232,0.0014,1KG_AMR_AF,TCOF1
683114,5:149739324:G>A,NM_001135243.1:c.109-1395G>A,\N,\N,1/26,Unknown significance,\N,intron_variant,14.06,0.0031,1KG_SAS_AF,TCOF1
683115,5:149739338:A>G,NM_001135243.1:c.109-1381A>G,\N,\N,1/26,Unknown significance,\N,intron_variant,11.59,\N,\N,TCOF1
683116,5:149739352:A>G,NM_001135243.1:c.109-1367A>G,\N,\N,1/26,Unknown significance,\N,intron_variant,6.626,0.001,1KG_EUR_AF,TCOF1
683117,5:149739355:A>G,NM_001135243.1:c.109-1364A>G,\N,\N,1/26,Unknown significance,\N,intron_variant,6.799,0.002,1KG_EAS_AF,TCOF1
683118,5:149739367:T>C,NM_001135243.1:c.109-1352T>C,\N,\N,1/26,Unknown significance,\N,intron_variant,1.705,0.0014,1KG_AMR_AF,TCOF1
683119,5:149739378:A>G,NM_001135243.1:c.109-1341A>G,\N,\N,1/26,Unknown significance,\N,intron_variant,2.508,\N,\N,TCOF1
683120,5:149739406:A>G,NM_001135243.1:c.109-1313A>G,\N,\N,1/26,Unknown significance,\N,intron_variant,8.21,\N,\N,TCOF1
683121,5:149739435:C>T,NM_001135243.1:c.109-1284C>T,\N,\N,1/26,Benign,\N,intron_variant,3.227,0.0091,1KG_AFR_AF,TCOF1
683122,5:149739449:G>A,NM_001135243.1:c.109-1270G>A,\N,\N,1/26,Unknown significance,\N,intron_variant,3.351,\N,\N,TCOF1
683123,5:149739460:A>C,NM_001135243.1:c.109-1259A>C,\N,\N,1/26,Benign,\N,intron_variant,3.454,0.006,1KG_EUR_AF,TCOF1
683124,5:149739502:A>G,NM_001135243.1:c.109-1217A>G,\N,\N,1/26,Unknown significance,\N,intron_variant,7.752,\N,\N,TCOF1
683125,5:149739528:CAG>C,NM_001135243.1:c.109-1190_109-1189del,\N,\N,1/26,Unknown significance,\N,intron_variant,\N,\N,\N,TCOF1
683126,5:149739544:C>G,NM_001135243.1:c.109-1175C>G,\N,\N,1/26,Benign,\N,intron_variant,5.499,0.0567,1KG_AFR_AF,TCOF1
683127,5:149739568:G>A,NM_001135243.1:c.109-1151G>A,\N,\N,1/26,Benign,\N,intron_variant,2.546,0.0378,1KG_SAS_AF,TCOF1
683128,5:149739570:G>A,NM_001135243.1:c.109-1149G>A,\N,\N,1/26,Unknown significance,\N,intron_variant,4.041,\N,\N,TCOF1
683129,5:149739587:C>T,NM_001135243.1:c.109-1132C>T,\N,\N,1/26,Unknown significance,\N,intron_variant,13.49,\N,\N,TCOF1
683130,5:149739607:A>G,NM_001135243.1:c.109-1112A>G,\N,\N,1/26,Unknown significance,\N,intron_variant,5.836,0.002,1KG_EUR_AF,TCOF1
683131,5:149739639:G>A,NM_001135243.1:c.109-1080G>A,\N,\N,1/26,Unknown significance,\N,intron_variant,6.569,0.001,1KG_SAS_AF,TCOF1
683132,5:149739749:T>C,NM_001135243.1:c.109-970T>C,\N,\N,1/26,Unknown significance,\N,intron_variant,3.75,\N,\N,TCOF1
683133,5:149739768:G>A,NM_001135243.1:c.109-951G>A,\N,\N,1/26,Unknown significance,\N,intron_variant,4.974,\N,\N,TCOF1
683134,5:149739789:A>G,NM_001135243.1:c.109-930A>G,\N,\N,1/26,Benign,\N,intron_variant,9.135,0.0461,1KG_AFR_AF,TCOF1
683135,5:149739802:C>T,NM_001135243.1:c.109-917C>T,\N,\N,1/26,Unknown significance,\N,intron_variant,4.115,0.001,1KG_EUR_AF,TCOF1
683136,5:149739824:C>T,NM_001135243.1:c.109-895C>T,\N,\N,1/26,Unknown significance,\N,intron_variant,4.981,\N,\N,TCOF1
683137,5:149739841:T>C,NM_001135243.1:c.109-878T>C,\N,\N,1/26,Unknown significance,\N,intron_variant,9.03,\N,\N,TCOF1
683138,5:149739875:C>T,NM_001135243.1:c.109-844C>T,\N,\N,1/26,Unknown significance,\N,intron_variant,5.884,0.001,1KG_SAS_AF,TCOF1
683139,5:149739878:C>T,NM_001135243.1:c.109-841C>T,\N,\N,1/26,Benign,\N,intron_variant,10.14,0.0596,1KG_EUR_AF,TCOF1
683140,5:149739890:C>T,NM_001135243.1:c.109-829C>T,\N,\N,1/26,Unknown significance,\N,intron_variant,6.073,0.0015,1KG_AFR_AF,TCOF1
683141,5:149739914:T>TC,NM_001135243.1:c.109-802dup,\N,\N,1/26,Unknown significance,\N,intron_variant,\N,\N,\N,TCOF1
683142,5:149739934:G>A,NM_001135243.1:c.109-785G>A,\N,\N,1/26,Unknown significance,\N,intron_variant,0.611,\N,\N,TCOF1
683143,5:149739937:T>G,NM_001135243.1:c.109-782T>G,\N,\N,1/26,Unknown significance,\N,intron_variant,4.42,\N,\N,TCOF1
683144,5:149739944:A>G,NM_001135243.1:c.109-775A>G,\N,\N,1/26,Unknown significance,\N,intron_variant,2.823,\N,\N,TCOF1
683145,5:149739970:A>T,NM_001135243.1:c.109-749A>T,\N,\N,1/26,Unknown significance,\N,intron_variant,1.588,\N,\N,TCOF1
683146,5:149740013:G>C,NM_001135243.1:c.109-706G>C,\N,\N,1/26,Unknown significance,\N,intron_variant,6.061,\N,\N,TCOF1
683147,5:149740043:C>T,NM_001135243.1:c.109-676C>T,\N,\N,1/26,Unknown significance,\N,intron_variant,8.204,\N,\N,TCOF1
683148,5:149740050:C>A,NM_001135243.1:c.109-669C>A,\N,\N,1/26,Benign,\N,intron_variant,7.026,0.0061,1KG_AFR_AF,TCOF1
683149,5:149740056:T>C,NM_001135243.1:c.109-663T>C,\N,\N,1/26,Unknown significance,\N,intron_variant,4.589,0.001,1KG_EAS_AF,TCOF1
683150,5:149740073:G>C,NM_001135243.1:c.109-646G>C,\N,\N,1/26,Unknown significance,\N,intron_variant,5,0.0045,1KG_AFR_AF,TCOF1
683151,5:149740075:C>T,NM_001135243.1:c.109-644C>T,\N,\N,1/26,Unknown significance,\N,intron_variant,6.203,\N,\N,TCOF1
683152,5:149740115:G>A,NM_001135243.1:c.109-604G>A,\N,\N,1/26,Unknown significance,\N,intron_variant,5.494,\N,\N,TCOF1
683153,5:149740180:A>C,NM_001135243.1:c.109-539A>C,\N,\N,1/26,Unknown significance,\N,intron_variant,1.691,0.0014,1KG_AMR_AF,TCOF1
683154,5:149740186:G>C,NM_001135243.1:c.109-533G>C,\N,\N,1/26,Unknown significance,\N,intron_variant,0.921,0.002,1KG_SAS_AF,TCOF1
683155,5:149740192:T>C,NM_001135243.1:c.109-527T>C,\N,\N,1/26,Unknown significance,\N,intron_variant,1.167,\N,\N,TCOF1
683156,5:149740235:A>C,NM_001135243.1:c.109-484A>C,\N,\N,1/26,Unknown significance,\N,intron_variant,1.408,\N,\N,TCOF1
683157,5:149740235:A>T,NM_001135243.1:c.109-484A>T,\N,\N,1/26,Unknown significance,\N,intron_variant,2.203,\N,\N,TCOF1
683158,5:149740240:T>A,NM_001135243.1:c.109-479T>A,\N,\N,1/26,Benign,\N,intron_variant,6.876,0.123,1KG_EAS_AF,TCOF1
683159,5:149740271:T>A,NM_001135243.1:c.109-448T>A,\N,\N,1/26,Unknown significance,\N,intron_variant,6.764,0.001,1KG_SAS_AF,TCOF1
683160,5:149740284:A>C,NM_001135243.1:c.109-435A>C,\N,\N,1/26,Unknown significance,\N,intron_variant,3.508,0.001,1KG_SAS_AF,TCOF1
683161,5:149740323:A>G,NM_001135243.1:c.109-396A>G,\N,\N,1/26,Unknown significance,\N,intron_variant,6.245,\N,\N,TCOF1
683162,5:149740354:C>T,NM_001135243.1:c.109-365C>T,\N,\N,1/26,Benign,\N,intron_variant,1.718,0.123,1KG_EAS_AF,TCOF1
683163,5:149740384:C>T,NM_001135243.1:c.109-335C>T,\N,\N,1/26,Unknown significance,\N,intron_variant,3.267,0.0014,1KG_AMR_AF,TCOF1
683164,5:149740431:C>G,NM_001135243.1:c.109-288C>G,\N,\N,1/26,Unknown significance,\N,intron_variant,0.522,0.001,1KG_EAS_AF,TCOF1
683165,5:149740432:C>T,NM_001135243.1:c.109-287C>T,\N,\N,1/26,Benign,\N,intron_variant,0.679,0.2133,1KG_AMR_AF,TCOF1
683166,5:149740438:C>T,NM_001135243.1:c.109-281C>T,\N,\N,1/26,Unknown significance,\N,intron_variant,6.693,0.001,1KG_EAS_AF,TCOF1
683167,5:149740499:A>ATGTTGCC,NM_001135243.1:c.109-219_109-213dup,\N,\N,1/26,Unknown significance,\N,intron_variant,\N,\N,\N,TCOF1
683168,5:149740581:G>A,NM_001135243.1:c.109-138G>A,\N,\N,1/26,Unknown significance,\N,intron_variant,3.086,\N,\N,TCOF1
683169,5:149740674:A>G,NM_001135243.1:c.109-45A>G,\N,\N,1/26,Unknown significance,\N,intron_variant,3.83,0.000060562,EXAC_SAS_AF,TCOF1
683170,5:149740679:G>T,NM_001135243.1:c.109-40G>T,\N,\N,1/26,Unknown significance,\N,intron_variant,3.118,0.000693481,EXAC_EAS_AF,TCOF1
683171,5:149740683:G>A,NM_001135243.1:c.109-36G>A,\N,\N,1/26,Unknown significance,\N,intron_variant,5.381,\N,\N,TCOF1
683172,5:149740689:A>C,NM_001135243.1:c.109-30A>C,\N,\N,1/26,Unknown significance,\N,intron_variant,2.753,0.000302389,EXAC_FIN_AF,TCOF1
683173,5:149740689:A>G,NM_001135243.1:c.109-30A>G,\N,\N,1/26,Unknown significance,\N,intron_variant,4.832,0.0000149952,EXAC_NFE_AF,TCOF1
683174,5:149740691:T>C,NM_001135243.1:c.109-28T>C,\N,\N,1/26,Benign,\N,intron_variant,5.441,0.0061,1KG_AFR_AF,TCOF1
683175,5:149740703:C>T,NM_001135243.1:c.109-16C>T,\N,\N,1/26,Unknown significance,\N,intron_variant,13.44,0.000226963,EVS_AA_AF,TCOF1
683176,5:149740705:T>C,NM_001135243.1:c.109-14T>C,\N,\N,1/26,Unknown significance,\N,intron_variant,13.13,0.0008,1KG_AFR_AF,TCOF1
683177,5:149740706:T>C,NM_001135243.1:c.109-13T>C,\N,\N,1/26,Benign,\N,intron_variant,13.47,0.0144,1KG_AFR_AF,TCOF1
683178,5:149740709:C>T,NM_001135243.1:c.109-10C>T,\N,\N,1/26,Unknown significance,\N,intron_variant,9.597,0.0014,1KG_AMR_AF,TCOF1
683179,5:149740711:C>G,NM_001135243.1:c.109-8C>G,\N,\N,1/26,Unknown significance,\N,splice_region_variant&intron_variant,13.65,\N,\N,TCOF1
683180,5:149740713:C>T,NM_001135243.1:c.109-6C>T,\N,\N,1/26,Unknown significance,\N,splice_region_variant&intron_variant,13.87,0.000115554,EXAC_EAS_AF,TCOF1
683181,5:149740717:A>T,NM_001135243.1:c.109-2A>T,\N,\N,1/26,Pathogenic,Treacher-Collins syndrome,splice_acceptor_variant,23.3,\N,\N,TCOF1
683182,5:149740717:AG>A,NM_001135243.1:c.109-1del,\N,\N,1/26,Pathogenic,Treacher-Collins syndrome,splice_acceptor_variant,23.7,\N,\N,TCOF1
683183,5:149740723:G>A,NM_000356.3:c.113G>A,NP_000347.2:p.Cys38Tyr,2/26,\N,Likely benign,\N,missense_variant,0.027,0.001,1KG_SAS_AF,TCOF1
683184,5:149740732:C>T,NM_001135243.1:c.122C>T,NP_001128715.1:p.Ala41Val,2/27,\N,Likely benign,\N,missense_variant,23,0.003492,EXAC_NFE_AF,TCOF1
683185,5:149740739:C>T,NM_001135243.1:c.129C>T,NP_001128715.1:p.Pro43=,2/27,\N,Unknown significance,\N,synonymous_variant,17.43,0.000060562,EXAC_SAS_AF,TCOF1
683186,5:149740740:G>A,NM_001135243.1:c.130G>A,NP_001128715.1:p.Val44Ile,2/27,\N,Unknown significance,\N,missense_variant,23.1,0.0000863707,EXAC_AMR_AF,TCOF1
683187,5:149740748:T>G,NM_001135243.1:c.138T>G,NP_001128715.1:p.Leu46=,2/27,\N,Unknown significance,\N,synonymous_variant,8.706,0.001,1KG_EAS_AF,TCOF1
683188,5:149740759:A>G,NM_001135243.1:c.149A>G,NP_001128715.1:p.Tyr50Cys,2/27,\N,Pathogenic,Treacher-Collins syndrome,missense_variant,28.4,\N,\N,TCOF1
683189,5:149740765:A>G,NM_000356.3:c.155A>G,NP_000347.2:p.His52Arg,2/26,\N,Unknown significance,\N,missense_variant,22.9,0.000151194,EXAC_FIN_AF,TCOF1
683190,5:149740767:T>C,NM_001135243.1:c.157T>C,NP_001128715.1:p.Trp53Arg,2/27,\N,Pathogenic,Treacher-Collins syndrome,missense_variant,24.2,\N,\N,TCOF1
683191,5:149740769:G>A,NM_001135243.1:c.159G>A,NP_001128715.1:p.Trp53Ter,2/27,\N,Pathogenic,Treacher-Collins syndrome,stop_gained,38,\N,\N,TCOF1
683192,5:149740772:A>G,NM_001135243.1:c.162A>G,NP_001128715.1:p.Gln54=,2/27,\N,Benign,\N,splice_region_variant&synonymous_variant,14.89,0.0313209,EVS_AA_AF,TCOF1
683193,5:149740773:C>T,NM_001135243.1:c.163C>T,NP_001128715.1:p.Gln55Ter,2/27,\N,Pathogenic,Treacher-Collins syndrome,stop_gained&splice_region_variant,38,\N,\N,TCOF1
683194,5:149740784:G>A,NM_001135243.1:c.164+10G>A,\N,\N,2/26,Unknown significance,\N,intron_variant,13.22,0.0000149889,EXAC_NFE_AF,TCOF1
683195,5:149740785:G>A,NM_001135243.1:c.164+11G>A,\N,\N,2/26,Unknown significance,\N,intron_variant,9.715,0.000060562,EXAC_SAS_AF,TCOF1
683196,5:149740787:G>A,NM_001135243.1:c.164+13G>A,\N,\N,2/26,Unknown significance,\N,intron_variant,6.374,0.00110132,EXAC_OTH_AF,TCOF1
683197,5:149740791:A>G,NM_001135243.1:c.164+17A>G,\N,\N,2/26,Unknown significance,\N,intron_variant,4.599,0.000116279,EVS_EA_AF,TCOF1
683198,5:149740795:G>A,NM_001135243.1:c.164+21G>A,\N,\N,2/26,Unknown significance,\N,intron_variant,4.134,0.000462428,EXAC_EAS_AF,TCOF1
683199,5:149740802:T>C,NM_001135243.1:c.164+28T>C,\N,\N,2/26,Unknown significance,\N,intron_variant,1.355,0.001,1KG_SAS_AF,TCOF1
683200,5:149740808:C>T,NM_001135243.1:c.164+34C>T,\N,\N,2/26,Unknown significance,\N,intron_variant,6.409,0.000116279,EVS_EA_AF,TCOF1
683201,5:149740810:G>A,NM_001135243.1:c.164+36G>A,\N,\N,2/26,Unknown significance,\N,intron_variant,2.697,0.000545058,EXAC_SAS_AF,TCOF1
683202,5:149740812:C>T,NM_001135243.1:c.164+38C>T,\N,\N,2/26,Unknown significance,\N,intron_variant,3.166,0.000115607,EXAC_EAS_AF,TCOF1
683203,5:149740814:C>T,NM_001135243.1:c.164+40C>T,\N,\N,2/26,Unknown significance,\N,intron_variant,6.83,0.0000149916,EXAC_NFE_AF,TCOF1
683204,5:149740816:C>G,NM_001135243.1:c.164+42C>G,\N,\N,2/26,Unknown significance,\N,intron_variant,3.182,0.000172951,EXAC_AMR_AF,TCOF1
683205,5:149740819:A>G,NM_001135243.1:c.164+45A>G,\N,\N,2/26,Unknown significance,\N,intron_variant,3.088,0.001,1KG_EAS_AF,TCOF1
683206,5:149740820:GC>G,NM_001135243.1:c.164+47del,\N,\N,2/26,Unknown significance,\N,intron_variant,3.984,0.000115607,EXAC_EAS_AF,TCOF1
683207,5:149740822:A>G,NM_001135243.1:c.164+48A>G,\N,\N,2/26,Unknown significance,\N,intron_variant,3.84,0.000115634,EXAC_EAS_AF,TCOF1
683208,5:149740824:C>T,NM_001135243.1:c.164+50C>T,\N,\N,2/26,Unknown significance,\N,intron_variant,0.381,0.0008,1KG_AFR_AF,TCOF1
683209,5:149740835:A>G,NM_001135243.1:c.164+61A>G,\N,\N,2/26,Unknown significance,\N,intron_variant,3.586,\N,\N,TCOF1
683210,5:149740839:G>A,NM_001135243.1:c.164+65G>A,\N,\N,2/26,Benign,\N,intron_variant,5.423,0.00650289,EVS_AA_AF,TCOF1
683211,5:149740871:C>T,NM_001135243.1:c.164+97C>T,\N,\N,2/26,Unknown significance,\N,intron_variant,5.031,0.0008,1KG_AFR_AF,TCOF1
683212,5:149740873:A>G,NM_001135243.1:c.164+99A>G,\N,\N,2/26,Benign,\N,intron_variant,0.878,0.0212,1KG_AFR_AF,TCOF1
683213,5:149740899:C>T,NM_001135243.1:c.164+125C>T,\N,\N,2/26,Unknown significance,\N,intron_variant,11.2,0.001,1KG_SAS_AF,TCOF1
683214,5:149740914:C>T,NM_001135243.1:c.164+140C>T,\N,\N,2/26,Unknown significance,\N,intron_variant,1.434,\N,\N,TCOF1
683215,5:149740973:G>A,NM_001135243.1:c.164+199G>A,\N,\N,2/26,Unknown significance,\N,intron_variant,9.856,\N,\N,TCOF1
683216,5:149740980:G>A,NM_001135243.1:c.164+206G>A,\N,\N,2/26,Benign,\N,intron_variant,11.27,0.0091,1KG_AFR_AF,TCOF1
683217,5:149740993:C>G,NM_001135243.1:c.164+219C>G,\N,\N,2/26,Unknown significance,\N,intron_variant,8.926,0.001,1KG_EAS_AF,TCOF1
683218,5:149741023:C>T,NM_001135243.1:c.164+249C>T,\N,\N,2/26,Unknown significance,\N,intron_variant,5.821,0.0008,1KG_AFR_AF,TCOF1
683219,5:149741025:G>A,NM_001135243.1:c.164+251G>A,\N,\N,2/26,Unknown significance,\N,intron_variant,0.129,0.001,1KG_EAS_AF,TCOF1
683220,5:149741033:A>G,NM_001135243.1:c.164+259A>G,\N,\N,2/26,Unknown significance,\N,intron_variant,2.712,\N,\N,TCOF1
683221,5:149741076:A>G,NM_001135243.1:c.164+302A>G,\N,\N,2/26,Unknown significance,\N,intron_variant,4.578,\N,\N,TCOF1
683222,5:149741105:A>G,NM_001135243.1:c.164+331A>G,\N,\N,2/26,Unknown significance,\N,intron_variant,3.546,\N,\N,TCOF1
683223,5:149741132:T>C,NM_001135243.1:c.164+358T>C,\N,\N,2/26,Unknown significance,\N,intron_variant,1.229,0.001,1KG_EAS_AF,TCOF1
683224,5:149741170:C>T,NM_001135243.1:c.164+396C>T,\N,\N,2/26,Unknown significance,\N,intron_variant,6.013,\N,\N,TCOF1
683225,5:149741177:A>T,NM_001135243.1:c.164+403A>T,\N,\N,2/26,Unknown significance,\N,intron_variant,1.16,0.001,1KG_EAS_AF,TCOF1
683226,5:149741205:A>G,NM_001135243.1:c.164+431A>G,\N,\N,2/26,Unknown significance,\N,intron_variant,4.661,\N,\N,TCOF1
683227,5:149741241:T>TG,NM_001135243.1:c.164+470dup,\N,\N,2/26,Unknown significance,\N,intron_variant,\N,\N,\N,TCOF1
683228,5:149741266:G>C,NM_001135243.1:c.164+492G>C,\N,\N,2/26,Unknown significance,\N,intron_variant,1.021,0.002,1KG_EAS_AF,TCOF1
683229,5:149741270:A>C,NM_001135243.1:c.164+496A>C,\N,\N,2/26,Unknown significance,\N,intron_variant,5.302,0.001,1KG_EAS_AF|1KG_SAS_AF,TCOF1
683230,5:149741277:G>C,NM_001135243.1:c.164+503G>C,\N,\N,2/26,Unknown significance,\N,intron_variant,4.313,\N,\N,TCOF1
683231,5:149741355:T>G,NM_001135243.1:c.164+581T>G,\N,\N,2/26,Unknown significance,\N,intron_variant,0.322,\N,\N,TCOF1
683232,5:149741358:A>G,NM_001135243.1:c.164+584A>G,\N,\N,2/26,Unknown significance,\N,intron_variant,1.035,\N,\N,TCOF1
683233,5:149741363:A>C,NM_001135243.1:c.164+589A>C,\N,\N,2/26,Unknown significance,\N,intron_variant,0.623,\N,\N,TCOF1
683234,5:149741381:CT>C,NM_001135243.1:c.164+608del,\N,\N,2/26,Unknown significance,\N,intron_variant,\N,0.0031,1KG_SAS_AF,TCOF1
683235,5:149741396:G>C,NM_001135243.1:c.164+622G>C,\N,\N,2/26,Unknown significance,\N,intron_variant,3.065,0.0014,1KG_AMR_AF,TCOF1
683236,5:149741487:C>G,NM_001135243.1:c.164+713C>G,\N,\N,2/26,Unknown significance,\N,intron_variant,4.181,0.0015,1KG_AFR_AF,TCOF1
683237,5:149741519:G>C,NM_001135243.1:c.164+745G>C,\N,\N,2/26,Unknown significance,\N,intron_variant,1.01,0.0008,1KG_AFR_AF,TCOF1
683238,5:149741539:C>G,NM_001135243.1:c.164+765C>G,\N,\N,2/26,Unknown significance,\N,intron_variant,3.93,\N,\N,TCOF1
683239,5:149741540:A>G,NM_001135243.1:c.164+766A>G,\N,\N,2/26,Unknown significance,\N,intron_variant,0.126,0.001,1KG_EAS_AF,TCOF1
683240,5:149741571:C>T,NM_001135243.1:c.164+797C>T,\N,\N,2/26,Benign,\N,intron_variant,6.051,0.0198,1KG_EAS_AF,TCOF1
683241,5:149741572:G>A,NM_001135243.1:c.164+798G>A,\N,\N,2/26,Unknown significance,\N,intron_variant,3.18,\N,\N,TCOF1
683242,5:149741614:G>A,NM_001135243.1:c.164+840G>A,\N,\N,2/26,Unknown significance,\N,intron_variant,3.101,0.0014,1KG_AMR_AF,TCOF1
683243,5:149741621:G>A,NM_001135243.1:c.164+847G>A,\N,\N,2/26,Unknown significance,\N,intron_variant,4.431,0.001,1KG_SAS_AF,TCOF1
683244,5:149741682:T>C,NM_001135243.1:c.164+908T>C,\N,\N,2/26,Benign,\N,intron_variant,1.824,0.0113,1KG_AFR_AF,TCOF1
683245,5:149741703:C>T,NM_001135243.1:c.164+929C>T,\N,\N,2/26,Unknown significance,\N,intron_variant,4.557,0.001,1KG_SAS_AF,TCOF1
683246,5:149741710:A>T,NM_001135243.1:c.164+936A>T,\N,\N,2/26,Unknown significance,\N,intron_variant,2.194,0.0008,1KG_AFR_AF,TCOF1
683247,5:149741712:C>G,NM_001135243.1:c.164+938C>G,\N,\N,2/26,Unknown significance,\N,intron_variant,3.627,0.0029,1KG_AMR_AF,TCOF1
683248,5:149741732:G>T,NM_001135243.1:c.164+958G>T,\N,\N,2/26,Unknown significance,\N,intron_variant,0.923,0.0014,1KG_AMR_AF,TCOF1
683249,5:149741753:G>T,NM_001135243.1:c.164+979G>T,\N,\N,2/26,Unknown significance,\N,intron_variant,2.035,0.002,1KG_SAS_AF,TCOF1
683250,5:149741775:T>C,NM_001135243.1:c.164+1001T>C,\N,\N,2/26,Unknown significance,\N,intron_variant,1.701,0.001,1KG_SAS_AF,TCOF1
683251,5:149741790:A>G,NM_001135243.1:c.164+1016A>G,\N,\N,2/26,Unknown significance,\N,intron_variant,2.037,0.003,1KG_EAS_AF,TCOF1
683252,5:149741795:T>G,NM_001135243.1:c.164+1021T>G,\N,\N,2/26,Unknown significance,\N,intron_variant,4.006,0.0008,1KG_AFR_AF,TCOF1
683253,5:149741821:G>A,NM_001135243.1:c.164+1047G>A,\N,\N,2/26,Unknown significance,\N,intron_variant,8.631,\N,\N,TCOF1
683254,5:149741857:T>C,NM_001135243.1:c.164+1083T>C,\N,\N,2/26,Unknown significance,\N,intron_variant,0.567,\N,\N,TCOF1
683255,5:149741872:A>C,NM_001135243.1:c.164+1098A>C,\N,\N,2/26,Unknown significance,\N,intron_variant,0.177,\N,\N,TCOF1
683256,5:149741897:G>A,NM_001135243.1:c.164+1123G>A,\N,\N,2/26,Benign,\N,intron_variant,11.93,0.005,1KG_EUR_AF,TCOF1
683257,5:149741905:C>G,NM_001135243.1:c.164+1131C>G,\N,\N,2/26,Benign,\N,intron_variant,10.25,0.0109,1KG_EAS_AF,TCOF1
683258,5:149741909:G>A,NM_001135243.1:c.164+1135G>A,\N,\N,2/26,Unknown significance,\N,intron_variant,6.366,0.001,1KG_SAS_AF,TCOF1
683259,5:149741931:A>G,NM_001135243.1:c.164+1157A>G,\N,\N,2/26,Benign,\N,intron_variant,1.487,0.0666,1KG_AFR_AF,TCOF1
683260,5:149741935:A>G,NM_001135243.1:c.164+1161A>G,\N,\N,2/26,Unknown significance,\N,intron_variant,4.517,\N,\N,TCOF1
683261,5:149741963:G>C,NM_001135243.1:c.164+1189G>C,\N,\N,2/26,Unknown significance,\N,intron_variant,0.414,0.002,1KG_EAS_AF,TCOF1
683262,5:149741976:T>A,NM_001135243.1:c.164+1202T>A,\N,\N,2/26,Unknown significance,\N,intron_variant,3.332,\N,\N,TCOF1
683263,5:149741992:C>A,NM_001135243.1:c.164+1218C>A,\N,\N,2/26,Benign,\N,intron_variant,6.457,0.0666,1KG_AFR_AF,TCOF1
683264,5:149742023:C>G,NM_001135243.1:c.164+1249C>G,\N,\N,2/26,Unknown significance,\N,intron_variant,14.67,\N,\N,TCOF1
683265,5:149742039:T>C,NM_001135243.1:c.164+1265T>C,\N,\N,2/26,Benign,\N,intron_variant,7.556,0.0109,1KG_EAS_AF,TCOF1
683266,5:149742045:G>A,NM_001135243.1:c.164+1271G>A,\N,\N,2/26,Unknown significance,\N,intron_variant,1.158,\N,\N,TCOF1
683267,5:149742057:C>T,NM_001135243.1:c.164+1283C>T,\N,\N,2/26,Unknown significance,\N,intron_variant,5.036,0.001,1KG_EUR_AF,TCOF1
683268,5:149742077:C>T,NM_001135243.1:c.164+1303C>T,\N,\N,2/26,Unknown significance,\N,intron_variant,4.799,\N,\N,TCOF1
683269,5:149742083:G>A,NM_001135243.1:c.164+1309G>A,\N,\N,2/26,Unknown significance,\N,intron_variant,2.096,0.0014,1KG_AMR_AF,TCOF1
683270,5:149742114:C>T,NM_001135243.1:c.164+1340C>T,\N,\N,2/26,Unknown significance,\N,intron_variant,10.28,0.001,1KG_EUR_AF,TCOF1
683271,5:149742173:C>T,NM_001135243.1:c.164+1399C>T,\N,\N,2/26,Benign,\N,intron_variant,7.953,0.0079,1KG_EAS_AF,TCOF1
683272,5:149742214:G>A,NM_001135243.1:c.164+1440G>A,\N,\N,2/26,Unknown significance,\N,intron_variant,4.137,0.0008,1KG_AFR_AF,TCOF1
683273,5:149742233:C>T,NM_001135243.1:c.165-1443C>T,\N,\N,2/26,Unknown significance,\N,intron_variant,4.941,0.0043,1KG_AMR_AF,TCOF1
683274,5:149742236:G>A,NM_001135243.1:c.165-1440G>A,\N,\N,2/26,Unknown significance,\N,intron_variant,1.908,\N,\N,TCOF1
683275,5:149742236:G>T,NM_001135243.1:c.165-1440G>T,\N,\N,2/26,Benign,\N,intron_variant,0.873,0.1258,1KG_SAS_AF,TCOF1
683276,5:149742252:T>A,NM_001135243.1:c.165-1424T>A,\N,\N,2/26,Benign,\N,intron_variant,1.472,1,1KG_AFR_AF|1KG_AMR_AF|1KG_EAS_AF|1KG_SAS_AF,TCOF1
683277,5:149742367:C>G,NM_001135243.1:c.165-1309C>G,\N,\N,2/26,Unknown significance,\N,intron_variant,9.795,\N,\N,TCOF1
683278,5:149742406:C>T,NM_001135243.1:c.165-1270C>T,\N,\N,2/26,Unknown significance,\N,intron_variant,2.998,\N,\N,TCOF1
683279,5:149742417:C>G,NM_001135243.1:c.165-1259C>G,\N,\N,2/26,Unknown significance,\N,intron_variant,3.865,\N,\N,TCOF1
683280,5:149742432:T>C,NM_001135243.1:c.165-1244T>C,\N,\N,2/26,Benign,\N,intron_variant,2.446,0.0159,1KG_AFR_AF,TCOF1
683281,5:149742466:C>T,NM_001135243.1:c.165-1210C>T,\N,\N,2/26,Unknown significance,\N,intron_variant,2.182,0.0008,1KG_AFR_AF,TCOF1
683282,5:149742567:T>G,NM_001135243.1:c.165-1109T>G,\N,\N,2/26,Unknown significance,\N,intron_variant,15.65,0.001,1KG_EAS_AF,TCOF1
683283,5:149742618:G>C,NM_001135243.1:c.165-1058G>C,\N,\N,2/26,Unknown significance,\N,intron_variant,0.337,\N,\N,TCOF1
683284,5:149742646:TA>T,NM_001135243.1:c.165-1026del,\N,\N,2/26,Unknown significance,\N,intron_variant,\N,\N,\N,TCOF1
683285,5:149742662:A>G,NM_001135243.1:c.165-1014A>G,\N,\N,2/26,Unknown significance,\N,intron_variant,4.439,\N,\N,TCOF1
683286,5:149742665:C>T,NM_001135243.1:c.165-1011C>T,\N,\N,2/26,Unknown significance,\N,intron_variant,4.379,\N,\N,TCOF1
683287,5:149742670:C>T,NM_001135243.1:c.165-1006C>T,\N,\N,2/26,Unknown significance,\N,intron_variant,0.935,0.0008,1KG_AFR_AF,TCOF1
683288,5:149742684:C>T,NM_001135243.1:c.165-992C>T,\N,\N,2/26,Benign,\N,intron_variant,1.756,0.0083,1KG_AFR_AF,TCOF1
683289,5:149742688:T>C,NM_001135243.1:c.165-988T>C,\N,\N,2/26,Unknown significance,\N,intron_variant,0.322,0.0015,1KG_AFR_AF,TCOF1
683290,5:149742710:T>G,NM_001135243.1:c.165-966T>G,\N,\N,2/26,Unknown significance,\N,intron_variant,1.121,0.001,1KG_EAS_AF,TCOF1
683291,5:149742744:C>T,NM_001135243.1:c.165-932C>T,\N,\N,2/26,Unknown significance,\N,intron_variant,8.084,0.0008,1KG_AFR_AF,TCOF1
683292,5:149742767:C>G,NM_001135243.1:c.165-909C>G,\N,\N,2/26,Unknown significance,\N,intron_variant,3.33,\N,\N,TCOF1
683293,5:149742825:T>G,NM_001135243.1:c.165-851T>G,\N,\N,2/26,Benign,\N,intron_variant,2.956,0.123,1KG_EAS_AF,TCOF1
683294,5:149742850:A>G,NM_001135243.1:c.165-826A>G,\N,\N,2/26,Unknown significance,\N,intron_variant,4.159,\N,\N,TCOF1
683295,5:149742871:G>A,NM_001135243.1:c.165-805G>A,\N,\N,2/26,Unknown significance,\N,intron_variant,1.325,0.001,1KG_SAS_AF,TCOF1
683296,5:149742877:T>G,NM_001135243.1:c.165-799T>G,\N,\N,2/26,Benign,\N,intron_variant,0.219,0.1278,1KG_AFR_AF,TCOF1
683297,5:149742895:C>G,NM_001135243.1:c.165-781C>G,\N,\N,2/26,Unknown significance,\N,intron_variant,1.099,\N,\N,TCOF1
683298,5:149742899:A>G,NM_001135243.1:c.165-777A>G,\N,\N,2/26,Unknown significance,\N,intron_variant,2.978,\N,\N,TCOF1
683299,5:149742922:G>T,NM_001135243.1:c.165-754G>T,\N,\N,2/26,Benign,\N,intron_variant,1.36,0.0113,1KG_AFR_AF,TCOF1
683300,5:149742924:G>A,NM_001135243.1:c.165-752G>A,\N,\N,2/26,Unknown significance,\N,intron_variant,1.479,0.001,1KG_EAS_AF,TCOF1
683301,5:149742931:G>C,NM_001135243.1:c.165-745G>C,\N,\N,2/26,Unknown significance,\N,intron_variant,3.736,0.0031,1KG_SAS_AF,TCOF1
683302,5:149742965:A>C,NM_001135243.1:c.165-711A>C,\N,\N,2/26,Unknown significance,\N,intron_variant,1.55,0.001,1KG_SAS_AF,TCOF1
683303,5:149742971:C>T,NM_001135243.1:c.165-705C>T,\N,\N,2/26,Unknown significance,\N,intron_variant,3.821,\N,\N,TCOF1
683304,5:149742972:G>A,NM_001135243.1:c.165-704G>A,\N,\N,2/26,Unknown significance,\N,intron_variant,3.955,\N,\N,TCOF1
683305,5:149743041:C>T,NM_001135243.1:c.165-635C>T,\N,\N,2/26,Unknown significance,\N,intron_variant,5.743,\N,\N,TCOF1
683306,5:149743058:AGTT>A,NM_001135243.1:c.165-614_165-612del,\N,\N,2/26,Unknown significance,\N,intron_variant,\N,\N,\N,TCOF1
683307,5:149743077:CAT>C,NM_001135243.1:c.165-598_165-597del,\N,\N,2/26,Unknown significance,\N,intron_variant,8.323,0.0041,1KG_SAS_AF,TCOF1
683308,5:149743080:G>A,NM_001135243.1:c.165-596G>A,\N,\N,2/26,Unknown significance,\N,intron_variant,2.925,0.0008,1KG_AFR_AF,TCOF1
683309,5:149743104:G>A,NM_001135243.1:c.165-572G>A,\N,\N,2/26,Unknown significance,\N,intron_variant,5.624,0.0015,1KG_AFR_AF,TCOF1
683310,5:149743122:TCCTC>T,NM_001135243.1:c.165-550_165-547del,\N,\N,2/26,Unknown significance,\N,intron_variant,\N,\N,\N,TCOF1
683311,5:149743135:T>C,NM_001135243.1:c.165-541T>C,\N,\N,2/26,Unknown significance,\N,intron_variant,2.188,\N,\N,TCOF1
683312,5:149743168:A>G,NM_001135243.1:c.165-508A>G,\N,\N,2/26,Unknown significance,\N,intron_variant,11.01,\N,\N,TCOF1
683313,5:149743175:C>G,NM_001135243.1:c.165-501C>G,\N,\N,2/26,Unknown significance,\N,intron_variant,6.378,0.0023,1KG_AFR_AF,TCOF1
683314,5:149743178:G>A,NM_001135243.1:c.165-498G>A,\N,\N,2/26,Unknown significance,\N,intron_variant,4.802,0.0014,1KG_AMR_AF,TCOF1
683315,5:149743239:G>A,NM_001135243.1:c.165-437G>A,\N,\N,2/26,Unknown significance,\N,intron_variant,3.678,\N,\N,TCOF1
683316,5:149743247:A>G,NM_001135243.1:c.165-429A>G,\N,\N,2/26,Benign,\N,intron_variant,6.299,0.0295,1KG_AFR_AF,TCOF1
683317,5:149743252:C>T,NM_001135243.1:c.165-424C>T,\N,\N,2/26,Unknown significance,\N,intron_variant,3.847,\N,\N,TCOF1
683318,5:149743271:G>A,NM_001135243.1:c.165-405G>A,\N,\N,2/26,Unknown significance,\N,intron_variant,3.949,0.001,1KG_EAS_AF|1KG_EUR_AF,TCOF1
683319,5:149743289:C>T,NM_001135243.1:c.165-387C>T,\N,\N,2/26,Unknown significance,\N,intron_variant,3.789,0.0023,1KG_AFR_AF,TCOF1
683320,5:149743290:G>A,NM_001135243.1:c.165-386G>A,\N,\N,2/26,Unknown significance,\N,intron_variant,2.733,\N,\N,TCOF1
683321,5:149743298:C>T,NM_001135243.1:c.165-378C>T,\N,\N,2/26,Unknown significance,\N,intron_variant,5.92,0.0031,1KG_SAS_AF,TCOF1
683322,5:149743302:G>A,NM_001135243.1:c.165-374G>A,\N,\N,2/26,Unknown significance,\N,intron_variant,5.694,0.0014,1KG_AMR_AF,TCOF1
683323,5:149743326:G>A,NM_001135243.1:c.165-350G>A,\N,\N,2/26,Unknown significance,\N,intron_variant,6.183,0.0008,1KG_AFR_AF,TCOF1
683324,5:149743407:C>T,NM_001135243.1:c.165-269C>T,\N,\N,2/26,Benign,\N,intron_variant,4.601,0.0098,1KG_AFR_AF,TCOF1
683325,5:149743437:T>G,NM_001135243.1:c.165-239T>G,\N,\N,2/26,Unknown significance,\N,intron_variant,2.317,0.001,1KG_EUR_AF,TCOF1
683326,5:149743444:T>C,NM_001135243.1:c.165-232T>C,\N,\N,2/26,Unknown significance,\N,intron_variant,2.863,0.001,1KG_EAS_AF,TCOF1
683327,5:149743468:A>T,NM_001135243.1:c.165-208A>T,\N,\N,2/26,Unknown significance,\N,intron_variant,0.949,0.0045,1KG_AFR_AF,TCOF1
683328,5:149743486:G>A,NM_001135243.1:c.165-190G>A,\N,\N,2/26,Unknown significance,\N,intron_variant,13.01,\N,\N,TCOF1
683329,5:149743486:G>T,NM_001135243.1:c.165-190G>T,\N,\N,2/26,Benign,\N,intron_variant,11.8,0.0287,1KG_AFR_AF,TCOF1
683330,5:149743494:A>G,NM_001135243.1:c.165-182A>G,\N,\N,2/26,Unknown significance,\N,intron_variant,14.75,0.001,1KG_EUR_AF,TCOF1
683331,5:149743534:C>T,NM_001135243.1:c.165-142C>T,\N,\N,2/26,Unknown significance,\N,intron_variant,3.766,\N,\N,TCOF1
683332,5:149743535:C>A,NM_001135243.1:c.165-141C>A,\N,\N,2/26,Unknown significance,\N,intron_variant,4.437,0.001,1KG_EUR_AF,TCOF1
683333,5:149743561:G>A,NM_001135243.1:c.165-115G>A,\N,\N,2/26,Benign,\N,intron_variant,1.263,0.0446,1KG_EAS_AF,TCOF1
683334,5:149743572:C>T,NM_001135243.1:c.165-104C>T,\N,\N,2/26,Unknown significance,\N,intron_variant,1.347,0.0014,1KG_AMR_AF,TCOF1
683335,5:149743589:G>C,NM_001135243.1:c.165-87G>C,\N,\N,2/26,Unknown significance,\N,intron_variant,0.892,0.001,1KG_EUR_AF,TCOF1
683336,5:149743590:G>T,NM_001135243.1:c.165-86G>T,\N,\N,2/26,Unknown significance,\N,intron_variant,2.516,0.001,1KG_EUR_AF,TCOF1
683337,5:149743598:C>T,NM_001135243.1:c.165-78C>T,\N,\N,2/26,Unknown significance,\N,intron_variant,1.661,0.001,1KG_EAS_AF,TCOF1
683338,5:149743608:T>C,NM_001135243.1:c.165-68T>C,\N,\N,2/26,Benign,\N,intron_variant,1.667,0.0129,1KG_EUR_AF,TCOF1
683339,5:149743614:G>A,NM_001135243.1:c.165-62G>A,\N,\N,2/26,Unknown significance,\N,intron_variant,3.025,0.0014,1KG_AMR_AF,TCOF1
683340,5:149743641:C>T,NM_001135243.1:c.165-35C>T,\N,\N,2/26,Unknown significance,\N,intron_variant,8.526,0.000060562,EXAC_SAS_AF,TCOF1
683341,5:149743651:A>G,NM_001135243.1:c.165-25A>G,\N,\N,2/26,Unknown significance,\N,intron_variant,6.225,0.000226963,EVS_AA_AF,TCOF1
683342,5:149743655:A>T,NM_001135243.1:c.165-21A>T,\N,\N,2/26,Unknown significance,\N,intron_variant,10.8,0.0000149921,EXAC_NFE_AF,TCOF1
683343,5:149743656:C>T,NM_001135243.1:c.165-20C>T,\N,\N,2/26,Unknown significance,\N,intron_variant,13.71,0.001,1KG_EAS_AF,TCOF1
683344,5:149743664:C>G,NM_001135243.1:c.165-12C>G,\N,\N,2/26,Unknown significance,\N,intron_variant,16.18,0.0000149912,EXAC_NFE_AF,TCOF1
683345,5:149743693:G>A,NM_001135243.1:c.182G>A,NP_001128715.1:p.Arg61Gln,3/27,\N,Likely benign,\N,missense_variant,18.27,0.001,1KG_SAS_AF,TCOF1
683346,5:149743698:C>T,NM_001135243.1:c.187C>T,NP_001128715.1:p.Arg63Trp,3/27,\N,Unknown significance,\N,missense_variant,34,0.002,1KG_EAS_AF,TCOF1
683347,5:149743699:G>A,NM_001135243.1:c.188G>A,NP_001128715.1:p.Arg63Gln,3/27,\N,Likely benign,\N,missense_variant,22.9,0.000465116,EVS_EA_AF,TCOF1
683348,5:149743721:A>G,NM_001135243.1:c.210A>G,NP_001128715.1:p.Ala70=,3/27,\N,Unknown significance,\N,synonymous_variant,0.182,0.000060562,EXAC_SAS_AF,TCOF1
683349,5:149743725:C>A,NM_001135243.1:c.214C>A,NP_001128715.1:p.Gln72Lys,3/27,\N,Unknown significance,\N,missense_variant,23.6,0.000060562,EXAC_SAS_AF,TCOF1
683350,5:149743727:A>G,NM_001135243.1:c.216A>G,NP_001128715.1:p.Gln72=,3/27,\N,Unknown significance,\N,synonymous_variant,0.736,0.000231107,EXAC_EAS_AF,TCOF1
683351,5:149743728:G>GCAAC,NM_001135243.1:c.218_219insAACC,NP_001128715.1:p.Lys74ThrfsTer2,3/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,27.3,\N,\N,TCOF1
683352,5:149743732:A>G,NM_001135243.1:c.221A>G,NP_001128715.1:p.Lys74Arg,3/27,\N,Unknown significance,\N,missense_variant,21.7,0.0000863856,EXAC_AMR_AF,TCOF1
683353,5:149743741:G>A,NM_001135243.1:c.230G>A,NP_001128715.1:p.Arg77His,3/27,\N,Unknown significance,\N,missense_variant,22.9,0.000302389,EXAC_FIN_AF,TCOF1
683354,5:149743754:C>T,NM_001135243.1:c.243C>T,NP_001128715.1:p.Pro81=,3/27,\N,Unknown significance,\N,synonymous_variant,13.3,0.00110865,EXAC_OTH_AF,TCOF1
683355,5:149743763:C>T,NM_001135243.1:c.252C>T,NP_001128715.1:p.Thr84=,3/27,\N,Unknown significance,\N,synonymous_variant,13.94,\N,\N,TCOF1
683356,5:149743764:T>A,NM_001135243.1:c.253T>A,NP_001128715.1:p.Ser85Thr,3/27,\N,Unknown significance,\N,missense_variant,25.1,0.0000605694,EXAC_SAS_AF,TCOF1
683357,5:149743766:G>A,NM_001135243.1:c.255G>A,NP_001128715.1:p.Ser85=,3/27,\N,Unknown significance,\N,synonymous_variant,11.16,0.00110865,EXAC_OTH_AF,TCOF1
683358,5:149743774:C>T,NM_001135243.1:c.263C>T,NP_001128715.1:p.Ser88Leu,3/27,\N,Unknown significance,\N,missense_variant,31,0.0000149975,EXAC_NFE_AF,TCOF1
683359,5:149743775:G>A,NM_001135243.1:c.264G>A,NP_001128715.1:p.Ser88=,3/27,\N,Unknown significance,\N,synonymous_variant,14.36,0.000242307,EXAC_SAS_AF,TCOF1
683360,5:149743775:G>C,NM_001135243.1:c.264G>C,NP_001128715.1:p.Ser88=,3/27,\N,Unknown significance,\N,synonymous_variant,10.79,0.000289519,EXAC_AFR_AF,TCOF1
683361,5:149743781:G>A,NM_001135243.1:c.270G>A,NP_001128715.1:p.Glu90=,3/27,\N,Unknown significance,\N,synonymous_variant,10.5,0.000172921,EXAC_AMR_AF,TCOF1
683362,5:149743783:AG>A,NM_001135243.1:c.274del,NP_001128715.1:p.Glu92LysfsTer14,3/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,22.7,\N,\N,TCOF1
683363,5:149743788:G>T,NM_001135243.1:c.277G>T,NP_001128715.1:p.Glu93Ter,3/27,\N,Pathogenic,Treacher-Collins syndrome,stop_gained,36,\N,\N,TCOF1
683364,5:149743798:C>T,NM_001008657.2:c.287C>T,NP_001008657.1:p.Ala96Val,3/18,\N,Unknown significance,\N,missense_variant,23.5,0.000242336,EXAC_SAS_AF,TCOF1
683365,5:149743799:C>T,NM_001135243.1:c.288C>T,NP_001128715.1:p.Ala96=,3/27,\N,Unknown significance,\N,synonymous_variant,15.09,0.0000150186,EXAC_NFE_AF,TCOF1
683366,5:149743800:G>A,NM_001135243.1:c.289G>A,NP_001128715.1:p.Glu97Lys,3/27,\N,Likely benign,\N,missense_variant,7.661,0.000121168,EXAC_SAS_AF,TCOF1
683367,5:149743803:A>AC,NM_001135243.1:c.294dup,NP_001128715.1:p.Ala99ArgfsTer76,3/27,\N,Unknown significance,\N,frameshift_variant,23.3,\N,\N,TCOF1
683368,5:149743804:C>A,NM_001135243.1:c.293C>A,NP_001128715.1:p.Thr98Asn,3/27,\N,Likely benign,\N,missense_variant,16.94,0.0000150861,EXAC_NFE_AF,TCOF1
683369,5:149743804:C>T,NM_001135243.1:c.293C>T,NP_001128715.1:p.Thr98Ile,3/27,\N,Likely benign,\N,missense_variant,19.71,0.00017313,EXAC_AMR_AF,TCOF1
683370,5:149743805:C>T,NM_001135243.1:c.294C>T,NP_001128715.1:p.Thr98=,3/27,\N,Unknown significance,\N,synonymous_variant,16.11,0.0000150123,EXAC_NFE_AF,TCOF1
683371,5:149743806:G>A,NM_001135243.1:c.295G>A,NP_001128715.1:p.Ala99Thr,3/27,\N,Benign,\N,missense_variant,0.108,0.005,1KG_EUR_AF,TCOF1
683372,5:149743813:CCA>C,NM_001135243.1:c.303_304del,NP_001128715.1:p.Thr102ProfsTer72,3/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant&splice_region_variant,26.5,\N,\N,TCOF1
683373,5:149743820:G>C,NM_001135243.1:c.304+5G>C,\N,\N,3/26,Pathogenic,Treacher-Collins syndrome,splice_region_variant&intron_variant,10.64,\N,\N,TCOF1
683374,5:149743822:G>T,NM_001135243.1:c.304+7G>T,\N,\N,3/26,Unknown significance,\N,splice_region_variant&intron_variant,7.616,0.00011566,EXAC_EAS_AF,TCOF1
683375,5:149743830:G>A,NM_001135243.1:c.304+15G>A,\N,\N,3/26,Unknown significance,\N,intron_variant,8.396,0.000193723,EXAC_AFR_AF,TCOF1
683376,5:149743834:T>C,NM_001135243.1:c.304+19T>C,\N,\N,3/26,Unknown significance,\N,intron_variant,14.04,0.001,1KG_EAS_AF,TCOF1
683377,5:149743845:T>G,NM_001135243.1:c.304+30T>G,\N,\N,3/26,Unknown significance,\N,intron_variant,10.45,0.0000150403,EXAC_NFE_AF,TCOF1
683378,5:149743846:A>G,NM_001135243.1:c.304+31A>G,\N,\N,3/26,Unknown significance,\N,intron_variant,7.638,0.0000865501,EXAC_AMR_AF,TCOF1
683379,5:149743847:T>C,NM_001135243.1:c.304+32T>C,\N,\N,3/26,Unknown significance,\N,intron_variant,9.452,0.0000150421,EXAC_NFE_AF,TCOF1
683380,5:149743849:G>A,NM_001135243.1:c.304+34G>A,\N,\N,3/26,Unknown significance,\N,intron_variant,10.12,0.0000150476,EXAC_NFE_AF,TCOF1
683381,5:149743854:T>C,NM_001135243.1:c.304+39T>C,\N,\N,3/26,Unknown significance,\N,intron_variant,10.6,0.0000150494,EXAC_NFE_AF,TCOF1
683382,5:149743858:T>C,NM_001135243.1:c.304+43T>C,\N,\N,3/26,Unknown significance,\N,intron_variant,11.6,0.000453926,EVS_AA_AF,TCOF1
683383,5:149743860:G>A,NM_001135243.1:c.304+45G>A,\N,\N,3/26,Unknown significance,\N,intron_variant,11.98,0.00226963,EVS_AA_AF,TCOF1
683384,5:149743860:G>C,NM_001135243.1:c.304+45G>C,\N,\N,3/26,Unknown significance,\N,intron_variant,9.892,0.000181884,EXAC_SAS_AF,TCOF1
683385,5:149743881:C>T,NM_001135243.1:c.304+66C>T,\N,\N,3/26,Unknown significance,\N,intron_variant,11.07,0.0008,1KG_AFR_AF,TCOF1
683386,5:149743884:G>C,NM_001135243.1:c.304+69G>C,\N,\N,3/26,Unknown significance,\N,intron_variant,6.989,\N,\N,TCOF1
683387,5:149743931:T>C,NM_001135243.1:c.304+116T>C,\N,\N,3/26,Unknown significance,\N,intron_variant,3.669,0.001,1KG_SAS_AF,TCOF1
683388,5:149743938:G>A,NM_001135243.1:c.304+123G>A,\N,\N,3/26,Unknown significance,\N,intron_variant,2.522,0.001,1KG_SAS_AF,TCOF1
683389,5:149743976:C>T,NM_001135243.1:c.304+161C>T,\N,\N,3/26,Benign,\N,intron_variant,3.98,0.1989,1KG_AFR_AF,TCOF1
683390,5:149743977:G>A,NM_001135243.1:c.304+162G>A,\N,\N,3/26,Unknown significance,\N,intron_variant,5.647,0.0008,1KG_AFR_AF,TCOF1
683391,5:149743989:A>G,NM_001135243.1:c.304+174A>G,\N,\N,3/26,Benign,\N,intron_variant,5.372,0.0179,1KG_EAS_AF,TCOF1
683392,5:149744017:C>T,NM_001135243.1:c.304+202C>T,\N,\N,3/26,Benign,\N,intron_variant,3.513,0.0616,1KG_EUR_AF,TCOF1
683393,5:149744021:C>G,NM_001135243.1:c.304+206C>G,\N,\N,3/26,Unknown significance,\N,intron_variant,2.937,\N,\N,TCOF1
683394,5:149744024:A>G,NM_001135243.1:c.304+209A>G,\N,\N,3/26,Unknown significance,\N,intron_variant,3.921,\N,\N,TCOF1
683395,5:149744031:C>G,NM_001135243.1:c.304+216C>G,\N,\N,3/26,Unknown significance,\N,intron_variant,5.492,0.002,1KG_SAS_AF,TCOF1
683396,5:149744045:C>T,NM_001135243.1:c.304+230C>T,\N,\N,3/26,Unknown significance,\N,intron_variant,4.407,\N,\N,TCOF1
683397,5:149744054:T>C,NM_001135243.1:c.304+239T>C,\N,\N,3/26,Unknown significance,\N,intron_variant,3.642,0.0008,1KG_AFR_AF,TCOF1
683398,5:149744057:G>C,NM_001135243.1:c.304+242G>C,\N,\N,3/26,Unknown significance,\N,intron_variant,3.069,\N,\N,TCOF1
683399,5:149744074:G>A,NM_001135243.1:c.304+259G>A,\N,\N,3/26,Unknown significance,\N,intron_variant,4.621,\N,\N,TCOF1
683400,5:149744147:G>A,NM_001135243.1:c.304+332G>A,\N,\N,3/26,Unknown significance,\N,intron_variant,3.945,0.001,1KG_SAS_AF,TCOF1
683401,5:149744177:T>C,NM_001135243.1:c.304+362T>C,\N,\N,3/26,Unknown significance,\N,intron_variant,3.396,0.0014,1KG_AMR_AF,TCOF1
683402,5:149744189:C>T,NM_001135243.1:c.304+374C>T,\N,\N,3/26,Unknown significance,\N,intron_variant,6.18,\N,\N,TCOF1
683403,5:149744226:A>G,NM_001135243.1:c.304+411A>G,\N,\N,3/26,Benign,\N,intron_variant,0.5,0.6664,1KG_AFR_AF,TCOF1
683404,5:149744241:C>T,NM_001135243.1:c.304+426C>T,\N,\N,3/26,Unknown significance,\N,intron_variant,6.075,\N,\N,TCOF1
683405,5:149744252:GA>G,NM_001135243.1:c.304+439del,\N,\N,3/26,Unknown significance,\N,intron_variant,\N,\N,\N,TCOF1
683406,5:149744254:A>G,NM_001135243.1:c.304+439A>G,\N,\N,3/26,Unknown significance,\N,intron_variant,3.325,\N,\N,TCOF1
683407,5:149744307:C>T,NM_001135243.1:c.304+492C>T,\N,\N,3/26,Unknown significance,\N,intron_variant,7.132,0.001,1KG_EAS_AF,TCOF1
683408,5:149744318:CCTT>C,NM_001135243.1:c.304+509_304+511del,\N,\N,3/26,Unknown significance,\N,intron_variant,\N,\N,\N,TCOF1
683409,5:149744327:C>G,NM_001135243.1:c.304+512C>G,\N,\N,3/26,Unknown significance,\N,intron_variant,2.061,\N,\N,TCOF1
683410,5:149744377:A>G,NM_001135243.1:c.304+562A>G,\N,\N,3/26,Benign,\N,intron_variant,6.901,0.0098,1KG_AFR_AF,TCOF1
683411,5:149744384:A>C,NM_001135243.1:c.304+569A>C,\N,\N,3/26,Unknown significance,\N,intron_variant,5.891,0.0008,1KG_AFR_AF,TCOF1
683412,5:149744429:T>C,NM_001135243.1:c.304+614T>C,\N,\N,3/26,Unknown significance,\N,intron_variant,1.364,\N,\N,TCOF1
683413,5:149744468:A>G,NM_001135243.1:c.304+653A>G,\N,\N,3/26,Unknown significance,\N,intron_variant,4.493,\N,\N,TCOF1
683414,5:149744494:G>A,NM_001135243.1:c.304+679G>A,\N,\N,3/26,Unknown significance,\N,intron_variant,1.543,\N,\N,TCOF1
683415,5:149744500:C>T,NM_001135243.1:c.304+685C>T,\N,\N,3/26,Unknown significance,\N,intron_variant,3.373,\N,\N,TCOF1
683416,5:149744518:A>C,NM_001135243.1:c.304+703A>C,\N,\N,3/26,Unknown significance,\N,intron_variant,1.619,0.0008,1KG_AFR_AF,TCOF1
683417,5:149744521:G>A,NM_001135243.1:c.304+706G>A,\N,\N,3/26,Unknown significance,\N,intron_variant,1.113,0.001,1KG_EAS_AF,TCOF1
683418,5:149744524:C>T,NM_001135243.1:c.304+709C>T,\N,\N,3/26,Unknown significance,\N,intron_variant,3.607,0.0015,1KG_AFR_AF,TCOF1
683419,5:149744543:G>C,NM_001135243.1:c.304+728G>C,\N,\N,3/26,Benign,\N,intron_variant,0.23,0.0068,1KG_AFR_AF,TCOF1
683420,5:149744545:G>A,NM_001135243.1:c.304+730G>A,\N,\N,3/26,Benign,\N,intron_variant,1.756,0.005,1KG_EUR_AF,TCOF1
683421,5:149744568:C>A,NM_001135243.1:c.304+753C>A,\N,\N,3/26,Benign,\N,intron_variant,1.538,0.0098,1KG_AFR_AF,TCOF1
683422,5:149744602:G>A,NM_001135243.1:c.304+787G>A,\N,\N,3/26,Unknown significance,\N,intron_variant,10.5,0.0015,1KG_AFR_AF,TCOF1
683423,5:149744615:T>C,NM_001135243.1:c.304+800T>C,\N,\N,3/26,Unknown significance,\N,intron_variant,8.78,\N,\N,TCOF1
683424,5:149744620:G>A,NM_001135243.1:c.304+805G>A,\N,\N,3/26,Unknown significance,\N,intron_variant,4.043,0.0015,1KG_AFR_AF,TCOF1
683425,5:149744621:G>A,NM_001135243.1:c.304+806G>A,\N,\N,3/26,Unknown significance,\N,intron_variant,1.389,0.0008,1KG_AFR_AF,TCOF1
683426,5:149744627:A>G,NM_001135243.1:c.304+812A>G,\N,\N,3/26,Unknown significance,\N,intron_variant,1.088,\N,\N,TCOF1
683427,5:149744647:C>T,NM_001135243.1:c.304+832C>T,\N,\N,3/26,Benign,\N,intron_variant,0.573,0.0051,1KG_SAS_AF,TCOF1
683428,5:149744678:C>T,NM_001135243.1:c.304+863C>T,\N,\N,3/26,Benign,\N,intron_variant,3.494,0.1256,1KG_AFR_AF,TCOF1
683429,5:149744686:C>T,NM_001135243.1:c.304+871C>T,\N,\N,3/26,Unknown significance,\N,intron_variant,2.744,\N,\N,TCOF1
683430,5:149744711:C>T,NM_001135243.1:c.304+896C>T,\N,\N,3/26,Unknown significance,\N,intron_variant,0.508,0.0008,1KG_AFR_AF,TCOF1
683431,5:149744712:G>A,NM_001135243.1:c.304+897G>A,\N,\N,3/26,Benign,\N,intron_variant,1.102,0.008,1KG_EUR_AF,TCOF1
683432,5:149744713:C>T,NM_001135243.1:c.304+898C>T,\N,\N,3/26,Unknown significance,\N,intron_variant,2.201,0.0014,1KG_AMR_AF,TCOF1
683433,5:149744733:C>G,NM_001135243.1:c.304+918C>G,\N,\N,3/26,Unknown significance,\N,intron_variant,6.147,\N,\N,TCOF1
683434,5:149744749:C>A,NM_001135243.1:c.304+934C>A,\N,\N,3/26,Unknown significance,\N,intron_variant,6.422,0.0038,1KG_AFR_AF,TCOF1
683435,5:149744751:G>A,NM_001135243.1:c.304+936G>A,\N,\N,3/26,Benign,\N,intron_variant,2.103,0.0091,1KG_AFR_AF,TCOF1
683436,5:149744766:C>T,NM_001135243.1:c.304+951C>T,\N,\N,3/26,Unknown significance,\N,intron_variant,1.526,\N,\N,TCOF1
683437,5:149744767:A>C,NM_001135243.1:c.304+952A>C,\N,\N,3/26,Unknown significance,\N,intron_variant,1.424,\N,\N,TCOF1
683438,5:149744785:T>C,NM_001135243.1:c.304+970T>C,\N,\N,3/26,Benign,\N,intron_variant,1.765,0.0666,1KG_AFR_AF,TCOF1
683439,5:149744812:C>T,NM_001135243.1:c.304+997C>T,\N,\N,3/26,Unknown significance,\N,intron_variant,0.513,\N,\N,TCOF1
683440,5:149744820:T>C,NM_001135243.1:c.304+1005T>C,\N,\N,3/26,Unknown significance,\N,intron_variant,0.441,\N,\N,TCOF1
683441,5:149744874:C>T,NM_001135243.1:c.304+1059C>T,\N,\N,3/26,Unknown significance,\N,intron_variant,2.231,0.0015,1KG_AFR_AF,TCOF1
683442,5:149744919:A>C,NM_001135243.1:c.304+1104A>C,\N,\N,3/26,Unknown significance,\N,intron_variant,1.867,\N,\N,TCOF1
683443,5:149744939:TG>T,NM_001135243.1:c.304+1126del,\N,\N,3/26,Unknown significance,\N,intron_variant,\N,\N,\N,TCOF1
683444,5:149744951:A>C,NM_001135243.1:c.304+1136A>C,\N,\N,3/26,Unknown significance,\N,intron_variant,7.141,0.001,1KG_EUR_AF,TCOF1
683445,5:149744958:G>A,NM_001135243.1:c.304+1143G>A,\N,\N,3/26,Unknown significance,\N,intron_variant,3.013,0.001,1KG_EUR_AF,TCOF1
683446,5:149745008:G>A,NM_001135243.1:c.304+1193G>A,\N,\N,3/26,Unknown significance,\N,intron_variant,2.305,\N,\N,TCOF1
683447,5:149745031:G>A,NM_001135243.1:c.304+1216G>A,\N,\N,3/26,Benign,\N,intron_variant,4.349,0.0053,1KG_AFR_AF,TCOF1
683448,5:149745050:C>T,NM_001135243.1:c.304+1235C>T,\N,\N,3/26,Unknown significance,\N,intron_variant,6.171,\N,\N,TCOF1
683449,5:149745081:C>G,NM_001135243.1:c.304+1266C>G,\N,\N,3/26,Unknown significance,\N,intron_variant,0.703,0.001,1KG_EUR_AF,TCOF1
683450,5:149745148:A>G,NM_001135243.1:c.304+1333A>G,\N,\N,3/26,Unknown significance,\N,intron_variant,1.381,0.002,1KG_SAS_AF,TCOF1
683451,5:149745171:G>A,NM_001135243.1:c.304+1356G>A,\N,\N,3/26,Unknown significance,\N,intron_variant,0.676,\N,\N,TCOF1
683452,5:149745201:T>G,NM_001135243.1:c.304+1386T>G,\N,\N,3/26,Unknown significance,\N,intron_variant,3.398,0.001,1KG_EAS_AF,TCOF1
683453,5:149745221:A>G,NM_001135243.1:c.304+1406A>G,\N,\N,3/26,Unknown significance,\N,intron_variant,3.679,0.0015,1KG_AFR_AF,TCOF1
683454,5:149745221:AT>A,NM_001135243.1:c.304+1410del,\N,\N,3/26,Unknown significance,\N,intron_variant,\N,\N,\N,TCOF1
683455,5:149745233:G>A,NM_001135243.1:c.304+1418G>A,\N,\N,3/26,Unknown significance,\N,intron_variant,1.771,\N,\N,TCOF1
683456,5:149745234:T>G,NM_001135243.1:c.304+1419T>G,\N,\N,3/26,Unknown significance,\N,intron_variant,5.017,0.001,1KG_EUR_AF,TCOF1
683457,5:149745242:G>C,NM_001135243.1:c.304+1427G>C,\N,\N,3/26,Unknown significance,\N,intron_variant,0.282,0.0031,1KG_SAS_AF,TCOF1
683458,5:149745259:TTTTG>T,NM_001135243.1:c.304+1457_304+1460del,\N,\N,3/26,Unknown significance,\N,intron_variant,\N,\N,\N,TCOF1
683459,5:149745274:T>G,NM_001135243.1:c.304+1459T>G,\N,\N,3/26,Unknown significance,\N,intron_variant,0.414,0.001,1KG_EUR_AF,TCOF1
683460,5:149745358:C>G,NM_001135243.1:c.304+1543C>G,\N,\N,3/26,Unknown significance,\N,intron_variant,1.299,\N,\N,TCOF1
683461,5:149745371:A>G,NM_001135243.1:c.304+1556A>G,\N,\N,3/26,Unknown significance,\N,intron_variant,3.252,0.0015,1KG_AFR_AF,TCOF1
683462,5:149745383:TAA>T,NM_001135243.1:c.304+1571_304+1572del,\N,\N,3/26,Unknown significance,\N,intron_variant,\N,\N,\N,TCOF1
683463,5:149745402:G>A,NM_001135243.1:c.304+1587G>A,\N,\N,3/26,Unknown significance,\N,intron_variant,0.741,0.0015,1KG_AFR_AF,TCOF1
683464,5:149745408:G>A,NM_001135243.1:c.304+1593G>A,\N,\N,3/26,Benign,\N,intron_variant,1.209,0.0144,1KG_AFR_AF,TCOF1
683465,5:149745424:C>G,NM_001135243.1:c.304+1609C>G,\N,\N,3/26,Unknown significance,\N,intron_variant,0.739,0.0023,1KG_AFR_AF,TCOF1
683466,5:149745489:G>A,NM_001135243.1:c.304+1674G>A,\N,\N,3/26,Unknown significance,\N,intron_variant,1.359,0.0008,1KG_AFR_AF,TCOF1
683467,5:149745514:T>C,NM_001135243.1:c.304+1699T>C,\N,\N,3/26,Unknown significance,\N,intron_variant,8.586,\N,\N,TCOF1
683468,5:149745521:A>T,NM_001135243.1:c.304+1706A>T,\N,\N,3/26,Unknown significance,\N,intron_variant,7.43,0.001,1KG_SAS_AF,TCOF1
683469,5:149745535:T>G,NM_001135243.1:c.304+1720T>G,\N,\N,3/26,Unknown significance,\N,intron_variant,7.981,\N,\N,TCOF1
683470,5:149745609:C>T,NM_001135243.1:c.304+1794C>T,\N,\N,3/26,Unknown significance,\N,intron_variant,10.68,0.0008,1KG_AFR_AF,TCOF1
683471,5:149745624:A>G,NM_001135243.1:c.305-1783A>G,\N,\N,3/26,Benign,\N,intron_variant,8.593,0.0666,1KG_AFR_AF,TCOF1
683472,5:149745680:C>CA,NM_001135243.1:c.305-1711dup,\N,\N,3/26,Unknown significance,\N,intron_variant,3.664,\N,\N,TCOF1
683473,5:149745726:C>T,NM_001135243.1:c.305-1681C>T,\N,\N,3/26,Unknown significance,\N,intron_variant,2.555,\N,\N,TCOF1
683474,5:149745785:G>A,NM_001135243.1:c.305-1622G>A,\N,\N,3/26,Benign,\N,intron_variant,2.761,0.2376,1KG_EUR_AF,TCOF1
683475,5:149745831:G>A,NM_001135243.1:c.305-1576G>A,\N,\N,3/26,Unknown significance,\N,intron_variant,0.781,0.002,1KG_EAS_AF,TCOF1
683476,5:149745840:G>A,NM_001135243.1:c.305-1567G>A,\N,\N,3/26,Unknown significance,\N,intron_variant,3.807,\N,\N,TCOF1
683477,5:149745868:T>C,NM_001135243.1:c.305-1539T>C,\N,\N,3/26,Unknown significance,\N,intron_variant,5.727,0.001,1KG_EUR_AF,TCOF1
683478,5:149745874:A>G,NM_001135243.1:c.305-1533A>G,\N,\N,3/26,Unknown significance,\N,intron_variant,7.987,0.002,1KG_EAS_AF,TCOF1
683479,5:149745895:C>T,NM_001135243.1:c.305-1512C>T,\N,\N,3/26,Unknown significance,\N,intron_variant,8.316,\N,\N,TCOF1
683480,5:149745897:G>A,NM_001135243.1:c.305-1510G>A,\N,\N,3/26,Unknown significance,\N,intron_variant,8.571,0.0015,1KG_AFR_AF,TCOF1
683481,5:149745904:A>T,NM_001135243.1:c.305-1503A>T,\N,\N,3/26,Unknown significance,\N,intron_variant,6.932,0.0014,1KG_AMR_AF,TCOF1
683482,5:149745905:C>A,NM_001135243.1:c.305-1502C>A,\N,\N,3/26,Unknown significance,\N,intron_variant,9.544,0.003,1KG_EAS_AF,TCOF1
683483,5:149745908:T>A,NM_001135243.1:c.305-1499T>A,\N,\N,3/26,Unknown significance,\N,intron_variant,10.34,0.003,1KG_AFR_AF,TCOF1
683484,5:149745948:G>C,NM_001135243.1:c.305-1459G>C,\N,\N,3/26,Unknown significance,\N,intron_variant,0.86,\N,\N,TCOF1
683485,5:149745958:G>A,NM_001135243.1:c.305-1449G>A,\N,\N,3/26,Unknown significance,\N,intron_variant,5.796,\N,\N,TCOF1
683486,5:149746015:A>T,NM_001135243.1:c.305-1392A>T,\N,\N,3/26,Unknown significance,\N,intron_variant,2.67,\N,\N,TCOF1
683487,5:149746043:G>A,NM_001135243.1:c.305-1364G>A,\N,\N,3/26,Unknown significance,\N,intron_variant,4.853,0.0014,1KG_AMR_AF,TCOF1
683488,5:149746117:A>G,NM_001135243.1:c.305-1290A>G,\N,\N,3/26,Benign,\N,intron_variant,5.962,0.0616,1KG_EUR_AF,TCOF1
683489,5:149746124:A>G,NM_001135243.1:c.305-1283A>G,\N,\N,3/26,Benign,\N,intron_variant,8.119,0.0567,1KG_AFR_AF,TCOF1
683490,5:149746138:A>G,NM_001135243.1:c.305-1269A>G,\N,\N,3/26,Unknown significance,\N,intron_variant,4.395,\N,\N,TCOF1
683491,5:149746207:T>G,NM_001135243.1:c.305-1200T>G,\N,\N,3/26,Unknown significance,\N,intron_variant,1.024,\N,\N,TCOF1
683492,5:149746239:C>T,NM_001135243.1:c.305-1168C>T,\N,\N,3/26,Unknown significance,\N,intron_variant,3.837,\N,\N,TCOF1
683493,5:149746303:C>T,NM_001135243.1:c.305-1104C>T,\N,\N,3/26,Unknown significance,\N,intron_variant,3.92,\N,\N,TCOF1
683494,5:149746407:C>T,NM_001135243.1:c.305-1000C>T,\N,\N,3/26,Unknown significance,\N,intron_variant,3.995,\N,\N,TCOF1
683495,5:149746485:G>A,NM_001135243.1:c.305-922G>A,\N,\N,3/26,Unknown significance,\N,intron_variant,4.582,\N,\N,TCOF1
683496,5:149746499:G>T,NM_001135243.1:c.305-908G>T,\N,\N,3/26,Unknown significance,\N,intron_variant,1.852,\N,\N,TCOF1
683497,5:149746500:A>G,NM_001135243.1:c.305-907A>G,\N,\N,3/26,Unknown significance,\N,intron_variant,4.105,\N,\N,TCOF1
683498,5:149746500:AG>A,NM_001135243.1:c.305-905del,\N,\N,3/26,Unknown significance,\N,intron_variant,2.481,\N,\N,TCOF1
683499,5:149746514:G>A,NM_001135243.1:c.305-893G>A,\N,\N,3/26,Unknown significance,\N,intron_variant,3.214,\N,\N,TCOF1
683500,5:149746514:G>T,NM_001135243.1:c.305-893G>T,\N,\N,3/26,Benign,\N,intron_variant,1.679,0.7655,1KG_AFR_AF,TCOF1
683501,5:149746515:G>C,NM_001135243.1:c.305-892G>C,\N,\N,3/26,Benign,\N,intron_variant,1.337,0.7655,1KG_AFR_AF,TCOF1
683502,5:149746516:C>A,NM_001135243.1:c.305-891C>A,\N,\N,3/26,Benign,\N,intron_variant,5.18,0.7655,1KG_AFR_AF,TCOF1
683503,5:149746516:C>T,NM_001135243.1:c.305-891C>T,\N,\N,3/26,Unknown significance,\N,intron_variant,5.029,\N,\N,TCOF1
683504,5:149746517:C>G,NM_001135243.1:c.305-890C>G,\N,\N,3/26,Benign,\N,intron_variant,3.216,0.7655,1KG_AFR_AF,TCOF1
683505,5:149746567:C>G,NM_001135243.1:c.305-840C>G,\N,\N,3/26,Unknown significance,\N,intron_variant,9.393,\N,\N,TCOF1
683506,5:149746596:C>T,NM_001135243.1:c.305-811C>T,\N,\N,3/26,Unknown significance,\N,intron_variant,0.392,0.003,1KG_EUR_AF,TCOF1
683507,5:149746602:C>T,NM_001135243.1:c.305-805C>T,\N,\N,3/26,Unknown significance,\N,intron_variant,2.928,\N,\N,TCOF1
683508,5:149746607:G>A,NM_001135243.1:c.305-800G>A,\N,\N,3/26,Benign,\N,intron_variant,0.868,0.0058,1KG_AMR_AF,TCOF1
683509,5:149746607:G>T,NM_001135243.1:c.305-800G>T,\N,\N,3/26,Unknown significance,\N,intron_variant,0.154,\N,\N,TCOF1
683510,5:149746635:G>A,NM_001135243.1:c.305-772G>A,\N,\N,3/26,Unknown significance,\N,intron_variant,1.386,\N,\N,TCOF1
683511,5:149746651:G>A,NM_001135243.1:c.305-756G>A,\N,\N,3/26,Unknown significance,\N,intron_variant,0.804,0.0008,1KG_AFR_AF,TCOF1
683512,5:149746683:A>T,NM_001135243.1:c.305-724A>T,\N,\N,3/26,Unknown significance,\N,intron_variant,2.548,\N,\N,TCOF1
683513,5:149746684:C>T,NM_001135243.1:c.305-723C>T,\N,\N,3/26,Unknown significance,\N,intron_variant,0.68,\N,\N,TCOF1
683514,5:149746695:C>T,NM_001135243.1:c.305-712C>T,\N,\N,3/26,Benign,\N,intron_variant,5.325,0.0102,1KG_SAS_AF,TCOF1
683515,5:149746696:G>A,NM_001135243.1:c.305-711G>A,\N,\N,3/26,Unknown significance,\N,intron_variant,4.103,\N,\N,TCOF1
683516,5:149746712:C>T,NM_001135243.1:c.305-695C>T,\N,\N,3/26,Benign,\N,intron_variant,4.451,0.0098,1KG_AFR_AF,TCOF1
683517,5:149746712:CA>C,NM_001135243.1:c.305-689del,\N,\N,3/26,Unknown significance,\N,intron_variant,\N,\N,\N,TCOF1
683518,5:149746719:T>A,NM_001135243.1:c.305-688T>A,\N,\N,3/26,Unknown significance,\N,intron_variant,6.523,\N,\N,TCOF1
683519,5:149746725:A>G,NM_001135243.1:c.305-682A>G,\N,\N,3/26,Unknown significance,\N,intron_variant,0.429,\N,\N,TCOF1
683520,5:149746762:G>A,NM_001135243.1:c.305-645G>A,\N,\N,3/26,Unknown significance,\N,intron_variant,4.685,0.0008,1KG_AFR_AF,TCOF1
683521,5:149746799:C>T,NM_001135243.1:c.305-608C>T,\N,\N,3/26,Benign,\N,intron_variant,4.134,0.0567,1KG_AFR_AF,TCOF1
683522,5:149746800:G>A,NM_001135243.1:c.305-607G>A,\N,\N,3/26,Unknown significance,\N,intron_variant,3.487,0.0008,1KG_AFR_AF,TCOF1
683523,5:149746801:G>T,NM_001135243.1:c.305-606G>T,\N,\N,3/26,Unknown significance,\N,intron_variant,2.7,0.001,1KG_EUR_AF,TCOF1
683524,5:149746816:C>T,NM_001135243.1:c.305-591C>T,\N,\N,3/26,Unknown significance,\N,intron_variant,4.513,0.0015,1KG_AFR_AF,TCOF1
683525,5:149746873:A>G,NM_001135243.1:c.305-534A>G,\N,\N,3/26,Unknown significance,\N,intron_variant,1.929,0.0029,1KG_AMR_AF,TCOF1
683526,5:149746886:G>A,NM_001135243.1:c.305-521G>A,\N,\N,3/26,Unknown significance,\N,intron_variant,5.127,0.001,1KG_SAS_AF,TCOF1
683527,5:149746894:G>A,NM_001135243.1:c.305-513G>A,\N,\N,3/26,Benign,\N,intron_variant,1.889,0.031,1KG_AFR_AF,TCOF1
683528,5:149746904:A>G,NM_001135243.1:c.305-503A>G,\N,\N,3/26,Unknown significance,\N,intron_variant,3.713,\N,\N,TCOF1
683529,5:149746912:C>T,NM_001135243.1:c.305-495C>T,\N,\N,3/26,Unknown significance,\N,intron_variant,2.018,0.0015,1KG_AFR_AF,TCOF1
683530,5:149746913:G>A,NM_001135243.1:c.305-494G>A,\N,\N,3/26,Unknown significance,\N,intron_variant,0.395,0.003,1KG_EUR_AF,TCOF1
683531,5:149746944:C>T,NM_001135243.1:c.305-463C>T,\N,\N,3/26,Unknown significance,\N,intron_variant,5.979,\N,\N,TCOF1
683532,5:149747026:C>T,NM_001135243.1:c.305-381C>T,\N,\N,3/26,Unknown significance,\N,intron_variant,4.418,0.001,1KG_EAS_AF,TCOF1
683533,5:149747047:A>G,NM_001135243.1:c.305-360A>G,\N,\N,3/26,Benign,\N,intron_variant,0.622,0.0123,1KG_SAS_AF,TCOF1
683534,5:149747055:G>A,NM_001135243.1:c.305-352G>A,\N,\N,3/26,Unknown significance,\N,intron_variant,2.771,0.0015,1KG_AFR_AF,TCOF1
683535,5:149747116:C>T,NM_001135243.1:c.305-291C>T,\N,\N,3/26,Benign,\N,intron_variant,7.01,0.0212,1KG_AFR_AF,TCOF1
683536,5:149747151:G>A,NM_001135243.1:c.305-256G>A,\N,\N,3/26,Benign,\N,intron_variant,5.313,0.0098,1KG_AFR_AF,TCOF1
683537,5:149747153:T>C,NM_001135243.1:c.305-254T>C,\N,\N,3/26,Benign,\N,intron_variant,2.666,0.0348,1KG_EUR_AF,TCOF1
683538,5:149747182:G>A,NM_001135243.1:c.305-225G>A,\N,\N,3/26,Unknown significance,\N,intron_variant,4.106,\N,\N,TCOF1
683539,5:149747184:A>G,NM_001135243.1:c.305-223A>G,\N,\N,3/26,Unknown significance,\N,intron_variant,5.351,0.0008,1KG_AFR_AF,TCOF1
683540,5:149747224:C>T,NM_001135243.1:c.305-183C>T,\N,\N,3/26,Unknown significance,\N,intron_variant,7.242,0.002,1KG_EUR_AF,TCOF1
683541,5:149747241:A>T,NM_001135243.1:c.305-166A>T,\N,\N,3/26,Unknown significance,\N,intron_variant,0.983,\N,\N,TCOF1
683542,5:149747276:C>T,NM_001135243.1:c.305-131C>T,\N,\N,3/26,Unknown significance,\N,intron_variant,1.904,\N,\N,TCOF1
683543,5:149747285:A>G,NM_001135243.1:c.305-122A>G,\N,\N,3/26,Unknown significance,\N,intron_variant,3.736,0.001,1KG_EAS_AF,TCOF1
683544,5:149747295:C>T,NM_001135243.1:c.305-112C>T,\N,\N,3/26,Unknown significance,\N,intron_variant,5.692,0.002,1KG_EAS_AF,TCOF1
683545,5:149747313:A>G,NM_001135243.1:c.305-94A>G,\N,\N,3/26,Unknown significance,\N,intron_variant,2.164,0.001,1KG_EAS_AF,TCOF1
683546,5:149747348:G>T,NM_001135243.1:c.305-59G>T,\N,\N,3/26,Unknown significance,\N,intron_variant,3.959,0.0008,1KG_AFR_AF,TCOF1
683547,5:149747355:A>G,NM_001135243.1:c.305-52A>G,\N,\N,3/26,Benign,\N,intron_variant,2.318,0.0216,1KG_AMR_AF,TCOF1
683548,5:149747368:G>A,NM_001135243.1:c.305-39G>A,\N,\N,3/26,Unknown significance,\N,intron_variant,1.235,0.0000153111,EXAC_NFE_AF,TCOF1
683549,5:149747371:C>A,NM_001135243.1:c.305-36C>A,\N,\N,3/26,Benign,\N,intron_variant,3.114,0.0375,1KG_AMR_AF,TCOF1
683550,5:149747371:C>T,NM_001135243.1:c.305-36C>T,\N,\N,3/26,Unknown significance,\N,intron_variant,3.232,0.000015284,EXAC_NFE_AF,TCOF1
683551,5:149747378:C>T,NM_001135243.1:c.305-29C>T,\N,\N,3/26,Unknown significance,\N,intron_variant,5.768,0.0000152369,EXAC_NFE_AF,TCOF1
683552,5:149747388:A>G,NM_001135243.1:c.305-19A>G,\N,\N,3/26,Unknown significance,\N,intron_variant,0.987,0.0000151258,EXAC_NFE_AF,TCOF1
683553,5:149747390:ATG>A,NM_001135243.1:c.305-15_305-14del,\N,\N,3/26,Unknown significance,\N,intron_variant,4.409,\N,\N,TCOF1
683554,5:149747392:G>A,NM_001135243.1:c.305-15G>A,\N,\N,3/26,Unknown significance,\N,intron_variant,2.113,0.0000617055,EXAC_SAS_AF,TCOF1
683555,5:149747406:G>A,NM_001135243.1:c.305-1G>A,\N,\N,3/26,Pathogenic,Treacher-Collins syndrome,splice_acceptor_variant,23.3,\N,\N,TCOF1
683556,5:149747428:A>G,NM_000356.3:c.326A>G,NP_000347.2:p.Asn109Ser,4/26,\N,Unknown significance,\N,missense_variant,23.4,0.001,1KG_EUR_AF,TCOF1
683557,5:149747439:C>A,NM_001135243.1:c.337C>A,NP_001128715.1:p.Leu113Met,4/27,\N,Likely benign,\N,missense_variant,0.006,0.001,1KG_EUR_AF,TCOF1
683558,5:149747440:TG>T,NM_001135243.1:c.343del,NP_001128715.1:p.Ala115ArgfsTer7,4/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,19.02,\N,\N,TCOF1
683559,5:149747441:G>C,NM_001135243.1:c.339G>C,NP_001128715.1:p.Leu113=,4/27,\N,Unknown significance,\N,synonymous_variant,2.899,0.0000150083,EXAC_NFE_AF,TCOF1
683560,5:149747446:C>T,NM_001135243.1:c.344C>T,NP_001128715.1:p.Ala115Val,4/27,\N,Likely benign,\N,missense_variant,9.508,0.0014,1KG_AMR_AF,TCOF1
683561,5:149747447:G>A,NM_001135243.1:c.345G>A,NP_001128715.1:p.Ala115=,4/27,\N,Unknown significance,\N,synonymous_variant,10.37,0.0015,1KG_AFR_AF,TCOF1
683562,5:149747458:CAA>C,NM_001135243.1:c.357_358del,NP_001128715.1:p.Ser120HisfsTer54,4/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,23.3,\N,\N,TCOF1
683563,5:149747474:AGCCAAGGTGAGTGGGACT>A,NM_001135243.1:c.376_378+15del,\N,4/27,4/26,Pathogenic,Treacher-Collins syndrome,splice_donor_variant&coding_sequence_variant&intron_variant,25.1,\N,\N,TCOF1
683564,5:149747475:G>A,NM_001135243.1:c.373G>A,NP_001128715.1:p.Ala125Thr,4/27,\N,Unknown significance,\N,missense_variant,19.14,0.0000150245,EXAC_NFE_AF,TCOF1
683565,5:149747477:C>T,NM_001135243.1:c.375C>T,NP_001128715.1:p.Ala125=,4/27,\N,Unknown significance,\N,synonymous_variant,13.72,0.002,1KG_SAS_AF,TCOF1
683566,5:149747483:G>A,NM_001135243.1:c.378+3G>A,\N,\N,4/26,Unknown significance,\N,splice_region_variant&intron_variant,12.73,0.000348189,EXAC_AMR_AF,TCOF1
683567,5:149747492:T>C,NM_001135243.1:c.378+12T>C,\N,\N,4/26,Unknown significance,\N,intron_variant,1.315,0.001,1KG_SAS_AF,TCOF1
683568,5:149747496:T>C,NM_001135243.1:c.378+16T>C,\N,\N,4/26,Unknown significance,\N,intron_variant,2.529,0.00464936,EXAC_AFR_AF,TCOF1
683569,5:149747501:A>G,NM_001135243.1:c.378+21A>G,\N,\N,4/26,Unknown significance,\N,intron_variant,3.367,0.000226963,EVS_AA_AF,TCOF1
683570,5:149747502:G>A,NM_001135243.1:c.378+22G>A,\N,\N,4/26,Unknown significance,\N,intron_variant,6.136,\N,\N,TCOF1
683571,5:149747503:C>T,NM_001135243.1:c.378+23C>T,\N,\N,4/26,Unknown significance,\N,intron_variant,6.91,0.00067402,EXAC_SAS_AF,TCOF1
683572,5:149747512:A>G,NM_001135243.1:c.378+32A>G,\N,\N,4/26,Unknown significance,\N,intron_variant,1.831,0.000291432,EXAC_AFR_AF,TCOF1
683573,5:149747519:T>G,NM_001135243.1:c.378+39T>G,\N,\N,4/26,Benign,\N,intron_variant,5.27,0.00982108,EXAC_AFR_AF,TCOF1
683574,5:149747527:C>G,NM_001135243.1:c.378+47C>G,\N,\N,4/26,Unknown significance,\N,intron_variant,4.442,0.00006182,EXAC_SAS_AF,TCOF1
683575,5:149747529:TG>T,NM_001135243.1:c.378+51del,\N,\N,4/26,Unknown significance,\N,intron_variant,3.012,0.0000979048,EXAC_AFR_AF,TCOF1
683576,5:149747530:G>A,NM_001135243.1:c.378+50G>A,\N,\N,4/26,Unknown significance,\N,intron_variant,2.894,0.000123977,EXAC_SAS_AF,TCOF1
683577,5:149747553:A>C,NM_001135243.1:c.378+73A>C,\N,\N,4/26,Benign,\N,intron_variant,6.896,0.0197,1KG_AFR_AF,TCOF1
683578,5:149747554:G>T,NM_001135243.1:c.378+74G>T,\N,\N,4/26,Benign,\N,intron_variant,8.597,0.0197,1KG_AFR_AF,TCOF1
683579,5:149747566:G>A,NM_001135243.1:c.378+86G>A,\N,\N,4/26,Unknown significance,\N,intron_variant,8.411,\N,\N,TCOF1
683580,5:149747568:TGTGA>T,NM_001135243.1:c.378+91_378+94del,\N,\N,4/26,Unknown significance,\N,intron_variant,\N,\N,\N,TCOF1
683581,5:149747580:C>T,NM_001135243.1:c.378+100C>T,\N,\N,4/26,Unknown significance,\N,intron_variant,6.37,0.0008,1KG_AFR_AF,TCOF1
683582,5:149747608:G>A,NM_001135243.1:c.378+128G>A,\N,\N,4/26,Benign,\N,intron_variant,2.686,0.0086,1KG_AMR_AF,TCOF1
683583,5:149747717:C>CT,NM_001135243.1:c.378+238dup,\N,\N,4/26,Unknown significance,\N,intron_variant,\N,\N,\N,TCOF1
683584,5:149747723:T>C,NM_001135243.1:c.378+243T>C,\N,\N,4/26,Unknown significance,\N,intron_variant,0.298,0.001,1KG_SAS_AF,TCOF1
683585,5:149747728:G>A,NM_001135243.1:c.378+248G>A,\N,\N,4/26,Benign,\N,intron_variant,3.781,0.0567,1KG_AFR_AF,TCOF1
683586,5:149747753:G>A,NM_001135243.1:c.378+273G>A,\N,\N,4/26,Unknown significance,\N,intron_variant,0.97,\N,\N,TCOF1
683587,5:149747770:A>G,NM_001135243.1:c.378+290A>G,\N,\N,4/26,Unknown significance,\N,intron_variant,2.288,0.0008,1KG_AFR_AF,TCOF1
683588,5:149747794:T>G,NM_001135243.1:c.378+314T>G,\N,\N,4/26,Unknown significance,\N,intron_variant,1.352,\N,\N,TCOF1
683589,5:149747827:G>A,NM_001135243.1:c.378+347G>A,\N,\N,4/26,Unknown significance,\N,intron_variant,0.681,0.0008,1KG_AFR_AF,TCOF1
683590,5:149747886:G>T,NM_001135243.1:c.379-393G>T,\N,\N,4/26,Unknown significance,\N,intron_variant,1.149,0.0008,1KG_AFR_AF,TCOF1
683591,5:149747905:A>G,NM_001135243.1:c.379-374A>G,\N,\N,4/26,Unknown significance,\N,intron_variant,4.715,0.002,1KG_EAS_AF,TCOF1
683592,5:149747925:G>A,NM_001135243.1:c.379-354G>A,\N,\N,4/26,Unknown significance,\N,intron_variant,4.866,0.001,1KG_EAS_AF,TCOF1
683593,5:149747947:A>T,NM_001135243.1:c.379-332A>T,\N,\N,4/26,Unknown significance,\N,intron_variant,2.174,\N,\N,TCOF1
683594,5:149747966:C>T,NM_001135243.1:c.379-313C>T,\N,\N,4/26,Benign,\N,intron_variant,2.067,0.028,1KG_AFR_AF,TCOF1
683595,5:149747967:G>A,NM_001135243.1:c.379-312G>A,\N,\N,4/26,Benign,\N,intron_variant,1.767,0.0092,1KG_SAS_AF,TCOF1
683596,5:149748015:T>C,NM_001135243.1:c.379-264T>C,\N,\N,4/26,Unknown significance,\N,intron_variant,4.432,0.002,1KG_SAS_AF,TCOF1
683597,5:149748036:GC>G,NM_001135243.1:c.379-242del,\N,\N,4/26,Benign,\N,intron_variant,2.677,0.0368,1KG_SAS_AF,TCOF1
683598,5:149748042:TACCACTTAGTAAATA>T,NM_001135243.1:c.379-234_379-220del,\N,\N,4/26,Unknown significance,\N,intron_variant,7.134,\N,\N,TCOF1
683599,5:149748048:T>C,NM_001135243.1:c.379-231T>C,\N,\N,4/26,Unknown significance,\N,intron_variant,3.301,0.0023,1KG_AFR_AF,TCOF1
683600,5:149748065:T>A,NM_001135243.1:c.379-214T>A,\N,\N,4/26,Unknown significance,\N,intron_variant,6.096,0.001,1KG_SAS_AF,TCOF1
683601,5:149748072:A>G,NM_001135243.1:c.379-207A>G,\N,\N,4/26,Unknown significance,\N,intron_variant,5.134,0.001,1KG_SAS_AF,TCOF1
683602,5:149748095:A>G,NM_001135243.1:c.379-184A>G,\N,\N,4/26,Benign,\N,intron_variant,4.146,0.0091,1KG_AFR_AF,TCOF1
683603,5:149748100:T>G,NM_001135243.1:c.379-179T>G,\N,\N,4/26,Benign,\N,intron_variant,3.593,0.0113,1KG_AFR_AF,TCOF1
683604,5:149748107:A>T,NM_001135243.1:c.379-172A>T,\N,\N,4/26,Unknown significance,\N,intron_variant,2.702,0.0008,1KG_AFR_AF,TCOF1
683605,5:149748139:G>T,NM_001135243.1:c.379-140G>T,\N,\N,4/26,Unknown significance,\N,intron_variant,4.425,\N,\N,TCOF1
683606,5:149748161:G>A,NM_001135243.1:c.379-118G>A,\N,\N,4/26,Unknown significance,\N,intron_variant,3.403,0.0014,1KG_AMR_AF,TCOF1
683607,5:149748193:G>C,NM_001135243.1:c.379-86G>C,\N,\N,4/26,Unknown significance,\N,intron_variant,1.06,0.002,1KG_EUR_AF,TCOF1
683608,5:149748204:G>A,NM_001135243.1:c.379-75G>A,\N,\N,4/26,Unknown significance,\N,intron_variant,7.644,0.001,1KG_EUR_AF,TCOF1
683609,5:149748207:C>T,NM_001135243.1:c.379-72C>T,\N,\N,4/26,Unknown significance,\N,intron_variant,8.578,\N,\N,TCOF1
683610,5:149748209:G>T,NM_001135243.1:c.379-70G>T,\N,\N,4/26,Unknown significance,\N,intron_variant,8.074,\N,\N,TCOF1
683611,5:149748228:C>G,NM_001135243.1:c.379-51C>G,\N,\N,4/26,Unknown significance,\N,intron_variant,7.683,0.00107192,EXAC_AFR_AF,TCOF1
683612,5:149748240:T>A,NM_001135243.1:c.379-39T>A,\N,\N,4/26,Unknown significance,\N,intron_variant,10.07,0.000226963,EVS_AA_AF,TCOF1
683613,5:149748242:C>T,NM_001135243.1:c.379-37C>T,\N,\N,4/26,Unknown significance,\N,intron_variant,10.7,0.000231535,EXAC_EAS_AF,TCOF1
683614,5:149748259:G>A,NM_001135243.1:c.379-20G>A,\N,\N,4/26,Unknown significance,\N,intron_variant,8.727,0.000121359,EXAC_SAS_AF,TCOF1
683615,5:149748263:C>T,NM_001135243.1:c.379-16C>T,\N,\N,4/26,Unknown significance,\N,intron_variant,12.27,0.000115794,EXAC_EAS_AF,TCOF1
683616,5:149748264:T>G,NM_001135243.1:c.379-15T>G,\N,\N,4/26,Unknown significance,\N,intron_variant,10.88,0.0000606722,EXAC_SAS_AF,TCOF1
683617,5:149748268:G>A,NM_001135243.1:c.379-11G>A,\N,\N,4/26,Unknown significance,\N,intron_variant,10.94,0.0000150534,EXAC_NFE_AF,TCOF1
683618,5:149748272:T>C,NM_001135243.1:c.379-7T>C,\N,\N,4/26,Unknown significance,\N,splice_region_variant&intron_variant,9.802,0.000173551,EXAC_AMR_AF,TCOF1
683619,5:149748277:A>G,NM_001135243.1:c.379-2A>G,\N,\N,4/26,Pathogenic,Treacher-Collins syndrome,splice_acceptor_variant,23.7,\N,\N,TCOF1
683620,5:149748284:GAC>G,NM_001135243.1:c.386_387del,NP_001128715.1:p.Thr129ArgfsTer45,5/27,\N,Pathogenic,Treacher collins syndrome 1; Treacher Collins syndrome 1,frameshift_variant,\N,\N,\N,TCOF1
683621,5:149748284:G>C,NM_001135243.1:c.384G>C,NP_001128715.1:p.Glu128Asp,5/27,\N,Likely benign,\N,missense_variant,14.03,0.0000150471,EXAC_NFE_AF,TCOF1
683622,5:149748285:A>T,NM_000356.3:c.385A>T,NP_000347.2:p.Thr129Ser,5/26,\N,Likely benign,\N,missense_variant,10.01,0.0000606575,EXAC_SAS_AF,TCOF1
683623,5:149748286:CAG>C,NM_001135243.1:c.390_391del,NP_001128715.1:p.Lys131SerfsTer43,5/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,25.6,\N,\N,TCOF1
683624,5:149748288:G>GA,NM_001135243.1:c.389dup,NP_001128715.1:p.Lys131GlufsTer44,5/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,24.5,\N,\N,TCOF1
683625,5:149748290:G>C,NM_000356.3:c.390G>C,NP_000347.2:p.Glu130Asp,5/26,\N,Likely benign,\N,missense_variant,20.5,0.0000606428,EXAC_SAS_AF,TCOF1
683626,5:149748292:A>C,NM_001135243.1:c.392A>C,NP_001128715.1:p.Lys131Thr,5/27,\N,Likely benign,\N,missense_variant,5.912,0.0000606428,EXAC_SAS_AF,TCOF1
683627,5:149748293:A>G,NM_001135243.1:c.393A>G,NP_001128715.1:p.Lys131=,5/27,\N,Unknown significance,\N,synonymous_variant,2.953,0.000115794,EXAC_EAS_AF,TCOF1
683628,5:149748304:CTG>C,NM_001135243.1:c.405_406del,NP_001128715.1:p.Gly136GlufsTer38,5/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,26,\N,\N,TCOF1
683629,5:149748305:TG>T,NM_001135243.1:c.408del,NP_001128715.1:p.Asn137IlefsTer82,5/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,26.1,\N,\N,TCOF1
683630,5:149748306:G>T,NM_001135243.1:c.406G>T,NP_001128715.1:p.Gly136Trp,5/27,\N,Unknown significance,\N,missense_variant,25.6,0.000105336,EXAC_NFE_AF,TCOF1
683631,5:149748317:G>C,NM_001135243.1:c.417G>C,NP_001128715.1:p.Met139Ile,5/27,\N,Likely benign,\N,missense_variant,0.619,\N,\N,TCOF1
683632,5:149748320:A>C,NM_001135243.1:c.420A>C,NP_001128715.1:p.Pro140=,5/27,\N,Unknown significance,\N,synonymous_variant,0.015,\N,\N,TCOF1
683633,5:149748321:C>CA,NM_001135243.1:c.422dup,NP_001128715.1:p.His141GlnfsTer34,5/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,23.3,\N,\N,TCOF1
683634,5:149748321:C>T,NM_000356.3:c.421C>T,NP_000347.2:p.His141Tyr,5/26,\N,Unknown significance,\N,missense_variant,8.407,0.001,1KG_EAS_AF,TCOF1
683635,5:149748322:A>C,NM_001135243.1:c.422A>C,NP_001128715.1:p.His141Pro,5/27,\N,Likely benign,\N,missense_variant,0.024,\N,\N,TCOF1
683636,5:149748330:AC>A,NM_001135243.1:c.431del,NP_001128715.1:p.Thr144MetfsTer75,5/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,23,\N,\N,TCOF1
683637,5:149748331:C>T,NM_001135243.1:c.431C>T,NP_001128715.1:p.Thr144Ile,5/27,\N,Likely benign,\N,missense_variant,15.64,0.0000300779,EXAC_NFE_AF,TCOF1
683638,5:149748334:G>A,NM_001135243.1:c.434G>A,NP_001128715.1:p.Gly145Glu,5/27,\N,Likely benign,\N,missense_variant,20.7,0.0000150421,EXAC_NFE_AF,TCOF1
683639,5:149748340:C>T,NM_000356.3:c.440C>T,NP_000347.2:p.Thr147Met,5/26,\N,Likely benign,\N,missense_variant,6.947,0.0000867754,EXAC_AMR_AF,TCOF1
683640,5:149748348:A>G,NM_001135243.1:c.448A>G,NP_001128715.1:p.Asn150Asp,5/27,\N,Likely benign,\N,missense_variant,1.91,0.000121315,EXAC_SAS_AF,TCOF1
683641,5:149748349:A>G,NM_000356.3:c.449A>G,NP_000347.2:p.Asn150Ser,5/26,\N,Unknown significance,\N,missense_variant,5.427,0.00024263,EXAC_SAS_AF,TCOF1
683642,5:149748350:C>G,NM_001135243.1:c.450C>G,NP_001128715.1:p.Asn150Lys,5/27,\N,Likely benign,\N,missense_variant,9.019,0.0000150498,EXAC_NFE_AF,TCOF1
683643,5:149748351:C>T,NM_001008657.2:c.451C>T,NP_001008657.1:p.Leu151Phe,5/18,\N,Likely benign,\N,missense_variant,15.34,0.0000867754,EXAC_AMR_AF,TCOF1
683644,5:149748375:A>T,NM_001135243.1:c.475A>T,NP_001128715.1:p.Lys159Ter,5/27,\N,Pathogenic,Treacher-Collins syndrome,stop_gained,35,\N,\N,TCOF1
683645,5:149748381:G>T,NM_001135243.1:c.481G>T,NP_001128715.1:p.Ala161Ser,5/27,\N,Likely benign,\N,missense_variant,1.548,0.000232234,EXAC_EAS_AF,TCOF1
683646,5:149748384:G>A,NM_001135243.1:c.484G>A,NP_001128715.1:p.Glu162Lys,5/27,\N,Likely benign,\N,missense_variant,6.177,0.000907853,EVS_AA_AF,TCOF1
683647,5:149748389:C>T,NM_001135243.1:c.489C>T,NP_001128715.1:p.Pro163=,5/27,\N,Unknown significance,\N,synonymous_variant,7.42,0.000173551,EXAC_AMR_AF,TCOF1
683648,5:149748396:AATAC>A,NM_001135243.1:c.497_500del,NP_001128715.1:p.Asn166IlefsTer52,5/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,23.2,\N,\N,TCOF1
683649,5:149748403:C>T,NM_001135243.1:c.503C>T,NP_001128715.1:p.Thr168Met,5/27,\N,Likely benign,\N,missense_variant,9.695,0.002,1KG_EUR_AF,TCOF1
683650,5:149748407:G>A,NM_001135243.1:c.507G>A,NP_001128715.1:p.Leu169=,5/27,\N,Unknown significance,\N,synonymous_variant,6.984,0.0000979048,EXAC_AFR_AF,TCOF1
683651,5:149748408:G>C,NM_001135243.1:c.508G>C,NP_001128715.1:p.Val170Leu,5/27,\N,Unknown significance,\N,missense_variant,12.9,0.000015114,EXAC_NFE_AF,TCOF1
683652,5:149748412:CAG>C,NM_001135243.1:c.514_515del,NP_001128715.1:p.Glu172AsnfsTer2,5/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,26.3,\N,\N,TCOF1
683653,5:149748418:CT>C,NM_001135243.1:c.519del,NP_001128715.1:p.Glu174ArgfsTer45,5/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,3.701,\N,\N,TCOF1
683654,5:149748419:TGAG>T,NM_001135243.1:c.527_529del,NP_001128715.1:p.Glu176del,5/27,\N,Unknown significance,\N,inframe_deletion,11.62,0.0000868961,EXAC_AMR_AF,TCOF1
683655,5:149748425:G>A,NM_001135243.1:c.525G>A,NP_001128715.1:p.Glu175=,5/27,\N,Unknown significance,\N,synonymous_variant,5.285,0.00030248,EXAC_FIN_AF,TCOF1
683656,5:149748431:C>T,NM_001135243.1:c.531C>T,NP_001128715.1:p.Gly177=,5/27,\N,Unknown significance,\N,synonymous_variant,8.087,0.000232558,EVS_EA_AF,TCOF1
683657,5:149748434:C>T,NM_001135243.1:c.534C>T,NP_001128715.1:p.Ser178=,5/27,\N,Benign,\N,synonymous_variant,12,0.0051526,EXAC_AFR_AF,TCOF1
683658,5:149748435:G>A,NM_001135243.1:c.535G>A,NP_001128715.1:p.Val179Ile,5/27,\N,Likely benign,\N,missense_variant,1.104,0.000116279,EVS_EA_AF,TCOF1
683659,5:149748439:C>T,NM_001135243.1:c.539C>T,NP_001128715.1:p.Pro180Leu,5/27,\N,Likely benign,\N,missense_variant,1.052,0.0000995223,EXAC_AFR_AF,TCOF1
683660,5:149748440:G>A,NM_001135243.1:c.540G>A,NP_001128715.1:p.Pro180=,5/27,\N,Unknown significance,\N,synonymous_variant,8.26,0.000182371,EXAC_SAS_AF,TCOF1
683661,5:149748442:C>T,NM_001135243.1:c.542C>T,NP_001128715.1:p.Ala181Val,5/27,\N,Likely benign,\N,missense_variant,8.663,0.000116279,EVS_EA_AF,TCOF1
683662,5:149748448:G>A,NM_001135243.1:c.548G>A,NP_001128715.1:p.Gly183Glu,5/27,\N,Likely benign,\N,missense_variant,7.968,0.000401043,EXAC_AFR_AF,TCOF1
683663,5:149748466:G>A,NM_001135243.1:c.565+1G>A,\N,\N,5/26,Pathogenic,Treacher-Collins syndrome,splice_donor_variant,23.2,\N,\N,TCOF1
683664,5:149748475:C>T,NM_001135243.1:c.565+10C>T,\N,\N,5/26,Unknown significance,\N,intron_variant,7.883,0.0000872144,EXAC_AMR_AF,TCOF1
683665,5:149748478:C>T,NM_001135243.1:c.565+13C>T,\N,\N,5/26,Unknown significance,\N,intron_variant,3.893,0.0000608569,EXAC_SAS_AF,TCOF1
683666,5:149748496:C>T,NM_001135243.1:c.565+31C>T,\N,\N,5/26,Unknown significance,\N,intron_variant,5.17,0.000107434,EXAC_AFR_AF,TCOF1
683667,5:149748501:G>T,NM_001135243.1:c.565+36G>T,\N,\N,5/26,Unknown significance,\N,intron_variant,2.741,0.000107991,EXAC_AFR_AF,TCOF1
683668,5:149748522:G>C,NM_001135243.1:c.565+57G>C,\N,\N,5/26,Benign,\N,intron_variant,2.343,0.0076,1KG_AFR_AF,TCOF1
683669,5:149748559:A>G,NM_001135243.1:c.565+94A>G,\N,\N,5/26,Unknown significance,\N,intron_variant,3.076,0.0029,1KG_AMR_AF,TCOF1
683670,5:149748586:G>T,NM_001135243.1:c.565+121G>T,\N,\N,5/26,Unknown significance,\N,intron_variant,3.81,\N,\N,TCOF1
683671,5:149748602:G>T,NM_001135243.1:c.565+137G>T,\N,\N,5/26,Unknown significance,\N,intron_variant,0.87,0.0014,1KG_AMR_AF,TCOF1
683672,5:149748611:C>T,NM_001135243.1:c.565+146C>T,\N,\N,5/26,Unknown significance,\N,intron_variant,3.548,0.001,1KG_EAS_AF,TCOF1
683673,5:149748614:C>A,NM_001135243.1:c.565+149C>A,\N,\N,5/26,Unknown significance,\N,intron_variant,4.565,\N,\N,TCOF1
683674,5:149748622:C>T,NM_001135243.1:c.565+157C>T,\N,\N,5/26,Unknown significance,\N,intron_variant,0.795,0.0014,1KG_AMR_AF,TCOF1
683675,5:149748623:G>A,NM_001135243.1:c.565+158G>A,\N,\N,5/26,Unknown significance,\N,intron_variant,3.635,0.001,1KG_EUR_AF,TCOF1
683676,5:149748671:C>G,NM_001135243.1:c.565+206C>G,\N,\N,5/26,Benign,\N,intron_variant,2.28,0.005,1KG_EUR_AF,TCOF1
683677,5:149748699:G>A,NM_001135243.1:c.565+234G>A,\N,\N,5/26,Unknown significance,\N,intron_variant,4.302,\N,\N,TCOF1
683678,5:149748757:A>G,NM_001135243.1:c.565+292A>G,\N,\N,5/26,Unknown significance,\N,intron_variant,6.674,0.0008,1KG_AFR_AF,TCOF1
683679,5:149748789:C>T,NM_001135243.1:c.566-303C>T,\N,\N,5/26,Unknown significance,\N,intron_variant,2.799,0.0014,1KG_AMR_AF,TCOF1
683680,5:149748850:G>T,NM_001135243.1:c.566-242G>T,\N,\N,5/26,Unknown significance,\N,intron_variant,4.034,\N,\N,TCOF1
683681,5:149748856:T>C,NM_001135243.1:c.566-236T>C,\N,\N,5/26,Unknown significance,\N,intron_variant,2.204,0.0008,1KG_AFR_AF,TCOF1
683682,5:149748929:C>A,NM_001135243.1:c.566-163C>A,\N,\N,5/26,Unknown significance,\N,intron_variant,1.859,0.001,1KG_EAS_AF,TCOF1
683683,5:149748931:A>C,NM_001135243.1:c.566-161A>C,\N,\N,5/26,Unknown significance,\N,intron_variant,4.274,0.0008,1KG_AFR_AF,TCOF1
683684,5:149748945:C>T,NM_001135243.1:c.566-147C>T,\N,\N,5/26,Unknown significance,\N,intron_variant,12.19,0.003,1KG_AFR_AF,TCOF1
683685,5:149748949:A>G,NM_001135243.1:c.566-143A>G,\N,\N,5/26,Unknown significance,\N,intron_variant,11.33,\N,\N,TCOF1
683686,5:149748962:T>C,NM_001135243.1:c.566-130T>C,\N,\N,5/26,Benign,\N,intron_variant,2.797,0.0295,1KG_AFR_AF,TCOF1
683687,5:149748974:G>A,NM_001135243.1:c.566-118G>A,\N,\N,5/26,Unknown significance,\N,intron_variant,3.29,\N,\N,TCOF1
683688,5:149748984:C>T,NM_001135243.1:c.566-108C>T,\N,\N,5/26,Unknown significance,\N,intron_variant,6,\N,\N,TCOF1
683689,5:149748988:C>G,NM_001135243.1:c.566-104C>G,\N,\N,5/26,Unknown significance,\N,intron_variant,6.209,0.003,1KG_AFR_AF,TCOF1
683690,5:149749044:T>G,NM_001135243.1:c.566-48T>G,\N,\N,5/26,Unknown significance,\N,intron_variant,11.11,\N,\N,TCOF1
683691,5:149749049:C>T,NM_001135243.1:c.566-43C>T,\N,\N,5/26,Unknown significance,\N,intron_variant,11.01,0.0000606134,EXAC_SAS_AF,TCOF1
683692,5:149749051:G>A,NM_001135243.1:c.566-41G>A,\N,\N,5/26,Unknown significance,\N,intron_variant,11.14,0.000115982,EXAC_EAS_AF,TCOF1
683693,5:149749053:A>G,NM_001135243.1:c.566-39A>G,\N,\N,5/26,Unknown significance,\N,intron_variant,11.08,\N,\N,TCOF1
683694,5:149749063:C>A,NM_001135243.1:c.566-29C>A,\N,\N,5/26,Unknown significance,\N,intron_variant,12.27,0.000121175,EXAC_NFE_AF,TCOF1
683695,5:149749068:G>A,NM_001135243.1:c.566-24G>A,\N,\N,5/26,Unknown significance,\N,intron_variant,11.49,0.00023175,EXAC_EAS_AF,TCOF1
683696,5:149749072:C>T,NM_001135243.1:c.566-20C>T,\N,\N,5/26,Unknown significance,\N,intron_variant,8.947,0.000393165,EXAC_NFE_AF,TCOF1
683697,5:149749073:C>A,NM_001135243.1:c.566-19C>A,\N,\N,5/26,Unknown significance,\N,intron_variant,8.017,0.000115848,EXAC_EAS_AF,TCOF1
683698,5:149749076:C>T,NM_001135243.1:c.566-16C>T,\N,\N,5/26,Unknown significance,\N,intron_variant,0.188,0.001,1KG_SAS_AF,TCOF1
683699,5:149749077:G>A,NM_001135243.1:c.566-15G>A,\N,\N,5/26,Unknown significance,\N,intron_variant,0.47,0.000453926,EVS_AA_AF,TCOF1
683700,5:149749082:C>T,NM_001135243.1:c.566-10C>T,\N,\N,5/26,Unknown significance,\N,intron_variant,2.729,0.000307977,EXAC_FIN_AF,TCOF1
683701,5:149749082:C>A,NM_001135243.1:c.566-10C>A,\N,\N,5/26,Pathogenic,Treacher-Collins syndrome,intron_variant,2.711,\N,\N,TCOF1
683702,5:149749083:G>A,NM_001135243.1:c.566-9G>A,\N,\N,5/26,Unknown significance,\N,intron_variant,0.515,0.0008,1KG_AFR_AF,TCOF1
683703,5:149749084:A>C,NM_001135243.1:c.566-8A>C,\N,\N,5/26,Unknown significance,\N,splice_region_variant&intron_variant,0.112,0.000116279,EVS_EA_AF,TCOF1
683704,5:149749086:C>T,NM_001135243.1:c.566-6C>T,\N,\N,5/26,Unknown significance,\N,splice_region_variant&intron_variant,10.29,0.000060584,EXAC_SAS_AF,TCOF1
683705,5:149749093:G>T,NM_001135243.1:c.567G>T,NP_001128715.1:p.Gly189=,6/27,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,9.339,0.0000605767,EXAC_SAS_AF,TCOF1
683706,5:149749096:G>A,NM_001135243.1:c.570G>A,NP_001128715.1:p.Met190Ile,6/27,\N,Unknown significance,\N,missense_variant,16.4,0.000115714,EXAC_EAS_AF,TCOF1
683707,5:149749098:TGTCAGCGGGCCAGGCC>T,NM_001135243.1:c.574_589del,NP_001128715.1:p.Ser192ThrfsTer22,6/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,33,\N,\N,TCOF1
683708,5:149749104:C>T,NM_000356.3:c.578C>T,NP_000347.2:p.Ala193Val,6/26,\N,Likely benign,\N,missense_variant,17.09,0.001,1KG_SAS_AF,TCOF1
683709,5:149749105:G>A,NM_001135243.1:c.579G>A,NP_001128715.1:p.Ala193=,6/27,\N,Benign,\N,synonymous_variant,11.41,0.0172492,EVS_AA_AF,TCOF1
683710,5:149749105:G>C,NM_001135243.1:c.579G>C,NP_001128715.1:p.Ala193=,6/27,\N,Unknown significance,\N,synonymous_variant,9.193,0.0000864603,EXAC_AMR_AF,TCOF1
683711,5:149749111:G>A,NM_001135243.1:c.585G>A,NP_001128715.1:p.Gln195=,6/27,\N,Unknown significance,\N,synonymous_variant,9.711,0.000115687,EXAC_EAS_AF,TCOF1
683712,5:149749114:C>T,NM_001135243.1:c.588C>T,NP_001128715.1:p.Ala196=,6/27,\N,Unknown significance,\N,synonymous_variant,21.2,0.0000301132,EXAC_NFE_AF,TCOF1
683713,5:149749115:G>A,NM_001008657.2:c.589G>A,NP_001008657.1:p.Asp197Asn,6/18,\N,Unknown significance,\N,missense_variant,20.4,0.0008,1KG_AFR_AF,TCOF1
683714,5:149749122:C>G,NM_001135243.1:c.596C>G,NP_001128715.1:p.Ser199Cys,6/27,\N,Unknown significance,\N,missense_variant,26.9,0.0000150566,EXAC_NFE_AF,TCOF1
683715,5:149749124:AG>A,NM_001135243.1:c.599del,NP_001128715.1:p.Ser200ThrfsTer19,6/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,33,\N,\N,TCOF1
683716,5:149749126:C>T,NM_001135243.1:c.600C>T,NP_001128715.1:p.Ser200=,6/27,\N,Unknown significance,\N,synonymous_variant,21.1,0.0029,1KG_AMR_AF,TCOF1
683717,5:149749127:G>A,NM_001135243.1:c.601G>A,NP_001128715.1:p.Glu201Lys,6/27,\N,Unknown significance,\N,missense_variant,25.7,\N,\N,TCOF1
683718,5:149749135:C>T,NM_001135243.1:c.609C>T,NP_001128715.1:p.Thr203=,6/27,\N,Unknown significance,\N,synonymous_variant,15.66,0.0000301187,EXAC_NFE_AF,TCOF1
683719,5:149749142:TC>T,NM_001135243.1:c.618del,NP_001128715.1:p.Ser207ValfsTer12,6/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,32,\N,\N,TCOF1
683720,5:149749150:T>G,NM_000356.3:c.624T>G,NP_000347.2:p.Asp208Glu,6/26,\N,Unknown significance,\N,missense_variant,23.3,0.0000150839,EXAC_NFE_AF,TCOF1
683721,5:149749155:CAG>C,NM_001135243.1:c.631_632del,NP_001128715.1:p.Asp211ArgfsTer20,6/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,25.1,\N,\N,TCOF1
683722,5:149749156:A>G,NM_001135243.1:c.630A>G,NP_001128715.1:p.Thr210=,6/27,\N,Unknown significance,\N,synonymous_variant,3.44,0.00372746,EXAC_AMR_AF,TCOF1
683723,5:149749159:C>T,NM_001135243.1:c.633C>T,NP_001128715.1:p.Asp211=,6/27,\N,Unknown significance,\N,synonymous_variant,13.45,0.0000604504,EXAC_NFE_AF,TCOF1
683724,5:149749160:G>A,NM_001135243.1:c.634G>A,NP_001128715.1:p.Val212Met,6/27,\N,Likely benign,\N,missense_variant,11.96,0.0008,1KG_AFR_AF,TCOF1
683725,5:149749166:G>A,NM_001135243.1:c.639+1G>A,\N,\N,6/26,Pathogenic,Treacher-Collins syndrome,splice_donor_variant,23.8,\N,\N,TCOF1
683726,5:149749171:T>G,NM_001135243.1:c.639+6T>G,\N,\N,6/26,Unknown significance,\N,splice_region_variant&intron_variant,9.359,0.000116279,EVS_EA_AF,TCOF1
683727,5:149749174:C>T,NM_001135243.1:c.639+9C>T,\N,\N,6/26,Unknown significance,\N,intron_variant,4.836,0.00024664,EXAC_SAS_AF,TCOF1
683728,5:149749179:A>G,NM_001135243.1:c.639+14A>G,\N,\N,6/26,Unknown significance,\N,intron_variant,3.058,0.0000883236,EXAC_AMR_AF,TCOF1
683729,5:149749183:C>G,NM_001135243.1:c.639+18C>G,\N,\N,6/26,Unknown significance,\N,intron_variant,2.533,0.000226963,EVS_AA_AF,TCOF1
683730,5:149749186:G>A,NM_001135243.1:c.639+21G>A,\N,\N,6/26,Unknown significance,\N,intron_variant,4.49,0.000226963,EVS_AA_AF,TCOF1
683731,5:149749190:T>A,NM_001135243.1:c.639+25T>A,\N,\N,6/26,Unknown significance,\N,intron_variant,5.065,0.000226963,EVS_AA_AF,TCOF1
683732,5:149749193:C>T,NM_001135243.1:c.639+28C>T,\N,\N,6/26,Unknown significance,\N,intron_variant,5.372,0.000205973,EXAC_AFR_AF,TCOF1
683733,5:149749195:C>A,NM_001135243.1:c.639+30C>A,\N,\N,6/26,Unknown significance,\N,intron_variant,4.192,\N,\N,TCOF1
683734,5:149749197:C>G,NM_001135243.1:c.639+32C>G,\N,\N,6/26,Unknown significance,\N,intron_variant,3.432,0.0000158018,EXAC_NFE_AF,TCOF1
683735,5:149749197:C>T,NM_001135243.1:c.639+32C>T,\N,\N,6/26,Benign,\N,intron_variant,4.809,0.0994,1KG_EUR_AF,TCOF1
683736,5:149749198:T>C,NM_001135243.1:c.639+33T>C,\N,\N,6/26,Unknown significance,\N,intron_variant,3.479,\N,\N,TCOF1
683737,5:149749208:T>A,NM_001135243.1:c.639+43T>A,\N,\N,6/26,Unknown significance,\N,intron_variant,5.814,0.000495172,EXAC_EAS_AF,TCOF1
683738,5:149749212:C>T,NM_001135243.1:c.639+47C>T,\N,\N,6/26,Unknown significance,\N,intron_variant,5.618,0.0031,1KG_SAS_AF,TCOF1
683739,5:149749216:C>G,NM_001135243.1:c.639+51C>G,\N,\N,6/26,Unknown significance,\N,intron_variant,5.23,0.0000654622,EXAC_SAS_AF,TCOF1
683740,5:149749228:C>T,NM_001135243.1:c.639+63C>T,\N,\N,6/26,Unknown significance,\N,intron_variant,4.41,0.0008,1KG_AFR_AF,TCOF1
683741,5:149749236:T>G,NM_001135243.1:c.639+71T>G,\N,\N,6/26,Unknown significance,\N,intron_variant,6.191,0.003,1KG_EUR_AF,TCOF1
683742,5:149749292:G>A,NM_001135243.1:c.639+127G>A,\N,\N,6/26,Unknown significance,\N,intron_variant,6.472,0.0023,1KG_AFR_AF,TCOF1
683743,5:149749306:C>T,NM_001135243.1:c.639+141C>T,\N,\N,6/26,Benign,\N,intron_variant,4.459,0.0076,1KG_AFR_AF,TCOF1
683744,5:149749381:G>A,NM_001135243.1:c.639+216G>A,\N,\N,6/26,Unknown significance,\N,intron_variant,4.943,0.001,1KG_EUR_AF,TCOF1
683745,5:149749406:A>G,NM_001135243.1:c.639+241A>G,\N,\N,6/26,Unknown significance,\N,intron_variant,4.137,0.001,1KG_EUR_AF,TCOF1
683746,5:149749409:C>T,NM_001135243.1:c.639+244C>T,\N,\N,6/26,Benign,\N,intron_variant,4.071,0.123,1KG_EAS_AF,TCOF1
683747,5:149749410:A>T,NM_001135243.1:c.639+245A>T,\N,\N,6/26,Unknown significance,\N,intron_variant,1.649,0.001,1KG_SAS_AF,TCOF1
683748,5:149749418:C>CGG,NM_001135243.1:c.639+253_639+254insGG,\N,\N,6/26,Unknown significance,\N,intron_variant,\N,\N,\N,TCOF1
683749,5:149749427:G>A,NM_001135243.1:c.639+262G>A,\N,\N,6/26,Unknown significance,\N,intron_variant,4.168,0.0015,1KG_AFR_AF,TCOF1
683750,5:149749467:G>A,NM_001135243.1:c.639+302G>A,\N,\N,6/26,Benign,\N,intron_variant,3.514,0.0287,1KG_AFR_AF,TCOF1
683751,5:149749492:C>T,NM_001135243.1:c.639+327C>T,\N,\N,6/26,Unknown significance,\N,intron_variant,2.603,0.003,1KG_AFR_AF,TCOF1
683752,5:149749513:C>G,NM_001135243.1:c.639+348C>G,\N,\N,6/26,Unknown significance,\N,intron_variant,4.646,0.0014,1KG_AMR_AF,TCOF1
683753,5:149749533:A>G,NM_001135243.1:c.639+368A>G,\N,\N,6/26,Benign,\N,intron_variant,4.749,0.0582,1KG_AFR_AF,TCOF1
683754,5:149749536:A>C,NM_001135243.1:c.639+371A>C,\N,\N,6/26,Unknown significance,\N,intron_variant,0.744,0.0029,1KG_AMR_AF,TCOF1
683755,5:149749544:T>TGGGGGGG,NM_001135243.1:c.639+380_639+381insGGGGGGG,\N,\N,6/26,Unknown significance,\N,intron_variant,\N,\N,\N,TCOF1
683756,5:149749566:C>T,NM_001135243.1:c.639+401C>T,\N,\N,6/26,Unknown significance,\N,intron_variant,10.44,0.001,1KG_EAS_AF|1KG_SAS_AF,TCOF1
683757,5:149749567:G>A,NM_001135243.1:c.639+402G>A,\N,\N,6/26,Unknown significance,\N,intron_variant,10.29,0.001,1KG_EUR_AF,TCOF1
683758,5:149749611:G>C,NM_001135243.1:c.639+446G>C,\N,\N,6/26,Unknown significance,\N,intron_variant,0.736,0.0023,1KG_AFR_AF,TCOF1
683759,5:149749614:A>C,NM_001135243.1:c.639+449A>C,\N,\N,6/26,Unknown significance,\N,intron_variant,1.766,\N,\N,TCOF1
683760,5:149749638:C>G,NM_001135243.1:c.639+473C>G,\N,\N,6/26,Unknown significance,\N,intron_variant,4.525,0.002,1KG_SAS_AF,TCOF1
683761,5:149749648:T>G,NM_001135243.1:c.639+483T>G,\N,\N,6/26,Unknown significance,\N,intron_variant,12.31,\N,\N,TCOF1
683762,5:149749709:A>C,NM_001135243.1:c.639+544A>C,\N,\N,6/26,Unknown significance,\N,intron_variant,1.675,\N,\N,TCOF1
683763,5:149749720:A>G,NM_001135243.1:c.639+555A>G,\N,\N,6/26,Unknown significance,\N,intron_variant,1.751,\N,\N,TCOF1
683764,5:149749742:C>CAGAG,NM_001135243.1:c.639+578_639+581dup,\N,\N,6/26,Unknown significance,\N,intron_variant,\N,\N,\N,TCOF1
683765,5:149749773:G>A,NM_001135243.1:c.639+608G>A,\N,\N,6/26,Unknown significance,\N,intron_variant,2.226,0.001,1KG_EUR_AF,TCOF1
683766,5:149749779:C>T,NM_001135243.1:c.639+614C>T,\N,\N,6/26,Unknown significance,\N,intron_variant,6.742,0.0008,1KG_AFR_AF,TCOF1
683767,5:149749793:G>A,NM_001135243.1:c.639+628G>A,\N,\N,6/26,Unknown significance,\N,intron_variant,6.706,0.0008,1KG_AFR_AF,TCOF1
683768,5:149749809:A>G,NM_001135243.1:c.639+644A>G,\N,\N,6/26,Unknown significance,\N,intron_variant,7.241,\N,\N,TCOF1
683769,5:149749813:G>GA,NM_001135243.1:c.639+651dup,\N,\N,6/26,Unknown significance,\N,intron_variant,\N,\N,\N,TCOF1
683770,5:149749848:G>A,NM_001135243.1:c.639+683G>A,\N,\N,6/26,Benign,\N,intron_variant,1.052,0.0318,1KG_AFR_AF,TCOF1
683771,5:149749853:T>C,NM_001135243.1:c.639+688T>C,\N,\N,6/26,Unknown significance,\N,intron_variant,1.674,\N,\N,TCOF1
683772,5:149749862:G>A,NM_001135243.1:c.639+697G>A,\N,\N,6/26,Unknown significance,\N,intron_variant,2.384,\N,\N,TCOF1
683773,5:149749879:C>T,NM_001135243.1:c.639+714C>T,\N,\N,6/26,Unknown significance,\N,intron_variant,2.617,\N,\N,TCOF1
683774,5:149749894:C>T,NM_001135243.1:c.639+729C>T,\N,\N,6/26,Unknown significance,\N,intron_variant,2.644,\N,\N,TCOF1
683775,5:149749895:G>A,NM_001135243.1:c.639+730G>A,\N,\N,6/26,Unknown significance,\N,intron_variant,2.883,0.002,1KG_SAS_AF,TCOF1
683776,5:149749899:AAG>A,NM_001135243.1:c.639+739_639+740del,\N,\N,6/26,Unknown significance,\N,intron_variant,\N,0.0031,1KG_SAS_AF,TCOF1
683777,5:149749931:C>G,NM_001135243.1:c.639+766C>G,\N,\N,6/26,Unknown significance,\N,intron_variant,0.893,0.0008,1KG_AFR_AF,TCOF1
683778,5:149749966:T>A,NM_001135243.1:c.639+801T>A,\N,\N,6/26,Benign,\N,intron_variant,4.723,0.0885,1KG_AFR_AF,TCOF1
683779,5:149749980:G>A,NM_001135243.1:c.639+815G>A,\N,\N,6/26,Unknown significance,\N,intron_variant,0.265,0.001,1KG_EAS_AF,TCOF1
683780,5:149749981:C>G,NM_001135243.1:c.639+816C>G,\N,\N,6/26,Unknown significance,\N,intron_variant,0.098,\N,\N,TCOF1
683781,5:149749981:C>T,NM_001135243.1:c.639+816C>T,\N,\N,6/26,Unknown significance,\N,intron_variant,0.243,0.0008,1KG_AFR_AF,TCOF1
683782,5:149749982:G>C,NM_001135243.1:c.639+817G>C,\N,\N,6/26,Unknown significance,\N,intron_variant,0.046,0.001,1KG_SAS_AF,TCOF1
683783,5:149749999:A>C,NM_001135243.1:c.639+834A>C,\N,\N,6/26,Unknown significance,\N,intron_variant,3.076,\N,\N,TCOF1
683784,5:149750002:TC>T,NM_001135243.1:c.639+839del,\N,\N,6/26,Unknown significance,\N,intron_variant,3.777,0.0023,1KG_AFR_AF,TCOF1
683785,5:149750012:G>A,NM_001135243.1:c.639+847G>A,\N,\N,6/26,Benign,\N,intron_variant,4.503,0.005,1KG_EAS_AF,TCOF1
683786,5:149750017:C>G,NM_001135243.1:c.639+852C>G,\N,\N,6/26,Unknown significance,\N,intron_variant,4.428,0.0045,1KG_AFR_AF,TCOF1
683787,5:149750048:A>G,NM_001135243.1:c.639+883A>G,\N,\N,6/26,Unknown significance,\N,intron_variant,5.349,0.001,1KG_SAS_AF,TCOF1
683788,5:149750054:G>A,NM_001135243.1:c.639+889G>A,\N,\N,6/26,Benign,\N,intron_variant,4.061,0.0068,1KG_AFR_AF,TCOF1
683789,5:149750067:C>T,NM_001135243.1:c.639+902C>T,\N,\N,6/26,Unknown significance,\N,intron_variant,0.448,\N,\N,TCOF1
683790,5:149750073:C>G,NM_001135243.1:c.639+908C>G,\N,\N,6/26,Unknown significance,\N,intron_variant,2.783,\N,\N,TCOF1
683791,5:149750074:A>G,NM_001135243.1:c.639+909A>G,\N,\N,6/26,Unknown significance,\N,intron_variant,4.561,0.002,1KG_EAS_AF,TCOF1
683792,5:149750074:A>T,NM_001135243.1:c.639+909A>T,\N,\N,6/26,Unknown significance,\N,intron_variant,3.498,\N,\N,TCOF1
683793,5:149750106:AC>A,NM_001135243.1:c.639+942del,\N,\N,6/26,Unknown significance,\N,intron_variant,\N,\N,\N,TCOF1
683794,5:149750110:G>A,NM_001135243.1:c.639+945G>A,\N,\N,6/26,Unknown significance,\N,intron_variant,5.159,0.0043,1KG_AMR_AF,TCOF1
683795,5:149750128:A>G,NM_001135243.1:c.639+963A>G,\N,\N,6/26,Unknown significance,\N,intron_variant,4.609,\N,\N,TCOF1
683796,5:149750139:G>C,NM_001135243.1:c.639+974G>C,\N,\N,6/26,Unknown significance,\N,intron_variant,0.28,\N,\N,TCOF1
683797,5:149750189:G>A,NM_001135243.1:c.639+1024G>A,\N,\N,6/26,Unknown significance,\N,intron_variant,6.371,\N,\N,TCOF1
683798,5:149750206:G>A,NM_001135243.1:c.639+1041G>A,\N,\N,6/26,Unknown significance,\N,intron_variant,3.321,0.001,1KG_EUR_AF,TCOF1
683799,5:149750218:C>G,NM_001135243.1:c.639+1053C>G,\N,\N,6/26,Unknown significance,\N,intron_variant,3.682,0.0045,1KG_AFR_AF,TCOF1
683800,5:149750237:T>C,NM_001135243.1:c.639+1072T>C,\N,\N,6/26,Unknown significance,\N,intron_variant,4.185,\N,\N,TCOF1
683801,5:149750242:G>A,NM_001135243.1:c.639+1077G>A,\N,\N,6/26,Unknown significance,\N,intron_variant,4.419,\N,\N,TCOF1
683802,5:149750321:G>T,NM_001135243.1:c.639+1156G>T,\N,\N,6/26,Unknown significance,\N,intron_variant,0.487,0.0014,1KG_AMR_AF,TCOF1
683803,5:149750323:A>G,NM_001135243.1:c.639+1158A>G,\N,\N,6/26,Unknown significance,\N,intron_variant,2.197,0.0008,1KG_AFR_AF,TCOF1
683804,5:149750381:T>G,NM_001135243.1:c.640-1188T>G,\N,\N,6/26,Benign,\N,intron_variant,0.259,0.0053,1KG_AFR_AF,TCOF1
683805,5:149750389:C>T,NM_001135243.1:c.640-1180C>T,\N,\N,6/26,Unknown significance,\N,intron_variant,3.189,0.0045,1KG_AFR_AF,TCOF1
683806,5:149750463:AG>A,NM_001135243.1:c.640-1104del,\N,\N,6/26,Unknown significance,\N,intron_variant,\N,\N,\N,TCOF1
683807,5:149750522:G>T,NM_001135243.1:c.640-1047G>T,\N,\N,6/26,Unknown significance,\N,intron_variant,0.316,0.001,1KG_EAS_AF,TCOF1
683808,5:149750539:T>C,NM_001135243.1:c.640-1030T>C,\N,\N,6/26,Unknown significance,\N,intron_variant,0.961,0.001,1KG_EAS_AF,TCOF1
683809,5:149750607:T>C,NM_001135243.1:c.640-962T>C,\N,\N,6/26,Unknown significance,\N,intron_variant,2.659,\N,\N,TCOF1
683810,5:149750663:A>G,NM_001135243.1:c.640-906A>G,\N,\N,6/26,Unknown significance,\N,intron_variant,1.567,\N,\N,TCOF1
683811,5:149750704:C>T,NM_001135243.1:c.640-865C>T,\N,\N,6/26,Unknown significance,\N,intron_variant,2.15,0.0015,1KG_AFR_AF,TCOF1
683812,5:149750732:G>C,NM_001135243.1:c.640-837G>C,\N,\N,6/26,Unknown significance,\N,intron_variant,8.497,\N,\N,TCOF1
683813,5:149750744:A>G,NM_001135243.1:c.640-825A>G,\N,\N,6/26,Benign,\N,intron_variant,4.485,0.0083,1KG_AFR_AF,TCOF1
683814,5:149750762:C>A,NM_001135243.1:c.640-807C>A,\N,\N,6/26,Unknown significance,\N,intron_variant,2.34,\N,\N,TCOF1
683815,5:149750775:T>C,NM_001135243.1:c.640-794T>C,\N,\N,6/26,Unknown significance,\N,intron_variant,2.496,0.001,1KG_SAS_AF,TCOF1
683816,5:149750778:C>G,NM_001135243.1:c.640-791C>G,\N,\N,6/26,Unknown significance,\N,intron_variant,6.652,0.0008,1KG_AFR_AF,TCOF1
683817,5:149750812:C>T,NM_001135243.1:c.640-757C>T,\N,\N,6/26,Unknown significance,\N,intron_variant,5.225,0.003,1KG_EUR_AF,TCOF1
683818,5:149750821:AC>A,NM_001135243.1:c.640-746del,\N,\N,6/26,Unknown significance,\N,intron_variant,\N,\N,\N,TCOF1
683819,5:149750865:G>A,NM_001135243.1:c.640-704G>A,\N,\N,6/26,Unknown significance,\N,intron_variant,6.146,\N,\N,TCOF1
683820,5:149750892:G>C,NM_001135243.1:c.640-677G>C,\N,\N,6/26,Unknown significance,\N,intron_variant,1.589,\N,\N,TCOF1
683821,5:149750906:C>G,NM_001135243.1:c.640-663C>G,\N,\N,6/26,Unknown significance,\N,intron_variant,2.036,0.001,1KG_EAS_AF,TCOF1
683822,5:149750908:G>A,NM_001135243.1:c.640-661G>A,\N,\N,6/26,Benign,\N,intron_variant,2.554,0.1905,1KG_EAS_AF,TCOF1
683823,5:149750921:G>A,NM_001135243.1:c.640-648G>A,\N,\N,6/26,Benign,\N,intron_variant,4.637,0.0151,1KG_AFR_AF,TCOF1
683824,5:149750933:C>T,NM_001135243.1:c.640-636C>T,\N,\N,6/26,Unknown significance,\N,intron_variant,1.878,\N,\N,TCOF1
683825,5:149750939:G>C,NM_001135243.1:c.640-630G>C,\N,\N,6/26,Unknown significance,\N,intron_variant,1.927,0.002,1KG_SAS_AF,TCOF1
683826,5:149750989:G>GT,NM_001135243.1:c.640-579dup,\N,\N,6/26,Benign,\N,intron_variant,1.778,0.0106,1KG_AFR_AF,TCOF1
683827,5:149750997:C>T,NM_001135243.1:c.640-572C>T,\N,\N,6/26,Unknown significance,\N,intron_variant,0.24,0.001,1KG_EAS_AF,TCOF1
683828,5:149751010:C>T,NM_001135243.1:c.640-559C>T,\N,\N,6/26,Unknown significance,\N,intron_variant,7.371,\N,\N,TCOF1
683829,5:149751018:C>T,NM_001135243.1:c.640-551C>T,\N,\N,6/26,Unknown significance,\N,intron_variant,1.582,0.0008,1KG_AFR_AF,TCOF1
683830,5:149751053:G>A,NM_001135243.1:c.640-516G>A,\N,\N,6/26,Unknown significance,\N,intron_variant,4.041,0.002,1KG_SAS_AF,TCOF1
683831,5:149751062:G>A,NM_001135243.1:c.640-507G>A,\N,\N,6/26,Benign,\N,intron_variant,7.097,0.0212,1KG_AFR_AF,TCOF1
683832,5:149751075:C>G,NM_001135243.1:c.640-494C>G,\N,\N,6/26,Unknown significance,\N,intron_variant,2.728,\N,\N,TCOF1
683833,5:149751088:G>T,NM_001135243.1:c.640-481G>T,\N,\N,6/26,Unknown significance,\N,intron_variant,1.743,0.001,1KG_EAS_AF,TCOF1
683834,5:149751110:G>A,NM_001135243.1:c.640-459G>A,\N,\N,6/26,Unknown significance,\N,intron_variant,6.917,0.0014,1KG_AMR_AF,TCOF1
683835,5:149751121:G>A,NM_001135243.1:c.640-448G>A,\N,\N,6/26,Unknown significance,\N,intron_variant,4.54,\N,\N,TCOF1
683836,5:149751164:C>T,NM_001135243.1:c.640-405C>T,\N,\N,6/26,Unknown significance,\N,intron_variant,2.363,0.001,1KG_EUR_AF,TCOF1
683837,5:149751212:T>G,NM_001135243.1:c.640-357T>G,\N,\N,6/26,Benign,\N,intron_variant,7.501,0.0086,1KG_AMR_AF,TCOF1
683838,5:149751230:C>T,NM_001135243.1:c.640-339C>T,\N,\N,6/26,Unknown significance,\N,intron_variant,3.419,\N,\N,TCOF1
683839,5:149751231:G>A,NM_001135243.1:c.640-338G>A,\N,\N,6/26,Unknown significance,\N,intron_variant,4.139,\N,\N,TCOF1
683840,5:149751274:G>A,NM_001135243.1:c.640-295G>A,\N,\N,6/26,Unknown significance,\N,intron_variant,3.225,0.002,1KG_EAS_AF,TCOF1
683841,5:149751299:G>A,NM_001135243.1:c.640-270G>A,\N,\N,6/26,Unknown significance,\N,intron_variant,0.155,0.002,1KG_EAS_AF,TCOF1
683842,5:149751346:G>A,NM_001135243.1:c.640-223G>A,\N,\N,6/26,Benign,\N,intron_variant,1.723,0.4857,1KG_SAS_AF,TCOF1
683843,5:149751351:G>T,NM_001135243.1:c.640-218G>T,\N,\N,6/26,Unknown significance,\N,intron_variant,0.602,0.001,1KG_EAS_AF,TCOF1
683844,5:149751372:C>G,NM_001135243.1:c.640-197C>G,\N,\N,6/26,Unknown significance,\N,intron_variant,8.485,0.001,1KG_EAS_AF,TCOF1
683845,5:149751435:G>C,NM_001135243.1:c.640-134G>C,\N,\N,6/26,Unknown significance,\N,intron_variant,0.108,0.0041,1KG_SAS_AF,TCOF1
683846,5:149751438:G>A,NM_001135243.1:c.640-131G>A,\N,\N,6/26,Unknown significance,\N,intron_variant,1.714,0.001,1KG_SAS_AF,TCOF1
683847,5:149751439:T>C,NM_001135243.1:c.640-130T>C,\N,\N,6/26,Unknown significance,\N,intron_variant,2.955,\N,\N,TCOF1
683848,5:149751463:A>G,NM_001135243.1:c.640-106A>G,\N,\N,6/26,Unknown significance,\N,intron_variant,2.764,\N,\N,TCOF1
683849,5:149751500:C>T,NM_001135243.1:c.640-69C>T,\N,\N,6/26,Unknown significance,\N,intron_variant,3.112,\N,\N,TCOF1
683850,5:149751526:CAG>C,NM_001135243.1:c.640-42_640-41del,\N,\N,6/26,Unknown significance,\N,intron_variant,7.308,0.000203376,EXAC_AMR_AF,TCOF1
683851,5:149751530:AATT>A,NM_001135243.1:c.640-32_640-30del,\N,\N,6/26,Unknown significance,\N,intron_variant,1.949,0.000125759,EXAC_NFE_AF,TCOF1
683852,5:149751535:T>C,NM_001135243.1:c.640-34T>C,\N,\N,6/26,Unknown significance,\N,intron_variant,1.218,0.0000177576,EXAC_NFE_AF,TCOF1
683853,5:149751536:T>C,NM_001135243.1:c.640-33T>C,\N,\N,6/26,Unknown significance,\N,intron_variant,5.206,0.0000669165,EXAC_SAS_AF,TCOF1
683854,5:149751552:C>T,NM_001135243.1:c.640-17C>T,\N,\N,6/26,Unknown significance,\N,intron_variant,11.54,0.000123335,EXAC_EAS_AF,TCOF1
683855,5:149751559:C>T,NM_001135243.1:c.640-10C>T,\N,\N,6/26,Unknown significance,\N,intron_variant,11.69,\N,\N,TCOF1
683856,5:149751562:G>T,NM_001135243.1:c.640-7G>T,\N,\N,6/26,Unknown significance,\N,splice_region_variant&intron_variant,8.389,0.000264457,EXAC_AMR_AF,TCOF1
683857,5:149751564:TC>T,NM_001135243.1:c.640-3del,\N,\N,6/26,Unknown significance,\N,splice_region_variant&intron_variant,10.12,0.0000611098,EXAC_SAS_AF,TCOF1
683858,5:149751565:C>G,NM_001135243.1:c.640-4C>G,\N,\N,6/26,Unknown significance,\N,splice_region_variant&intron_variant,11.54,\N,\N,TCOF1
683859,5:149751572:A>T,NM_001135243.1:c.643A>T,NP_001128715.1:p.Lys215Ter,7/27,\N,Unknown significance,\N,stop_gained,36,0.000015305,EXAC_NFE_AF,TCOF1
683860,5:149751573:A>G,NM_001135243.1:c.644A>G,NP_001128715.1:p.Lys215Arg,7/27,\N,Unknown significance,\N,missense_variant,23.1,0.000182349,EXAC_SAS_AF,TCOF1
683861,5:149751580:A>G,NM_001135243.1:c.651A>G,NP_001128715.1:p.Ser217=,7/27,\N,Unknown significance,\N,synonymous_variant,10.89,0.00012219,EVS_EA_AF,TCOF1
683862,5:149751590:G>C,NM_001135243.1:c.661G>C,NP_001128715.1:p.Ala221Pro,7/27,\N,Likely benign,\N,missense_variant,14.57,\N,\N,TCOF1
683863,5:149751591:C>T,NM_001135243.1:c.662C>T,NP_001128715.1:p.Ala221Val,7/27,\N,Likely benign,\N,missense_variant,15.09,0.0000606428,EXAC_SAS_AF,TCOF1
683864,5:149751601:A>C,NM_001135243.1:c.672A>C,NP_001128715.1:p.Lys224Asn,7/27,\N,Unknown significance,\N,missense_variant,23.9,0.000116252,EXAC_EAS_AF,TCOF1
683865,5:149751605:T>C,NM_001135243.1:c.676T>C,NP_001128715.1:p.Ser226Pro,7/27,\N,Likely benign,\N,missense_variant,7.582,0.000243784,EVS_EA_AF,TCOF1
683866,5:149751611:G>A,NM_001135243.1:c.682G>A,NP_001128715.1:p.Val228Ile,7/27,\N,Likely benign,\N,missense_variant,0.363,\N,\N,TCOF1
683867,5:149751617:A>T,NM_001135243.1:c.688A>T,NP_001128715.1:p.Thr230Ser,7/27,\N,Likely benign,\N,missense_variant,9.752,0.000243962,EVS_EA_AF,TCOF1
683868,5:149751618:C>G,NM_001135243.1:c.689C>G,NP_001128715.1:p.Thr230Ser,7/27,\N,Likely benign,\N,missense_variant,16.45,0.0000151359,EXAC_NFE_AF,TCOF1
683869,5:149751626:T>C,NM_001135243.1:c.697T>C,NP_001128715.1:p.Ser233Pro,7/27,\N,Likely benign,\N,missense_variant,1.168,0.000265252,EVS_AA_AF,TCOF1
683870,5:149751630:C>G,NM_001135244.1:c.701C>G,NP_001128716.1:p.Pro234Arg,7/26,\N,Unknown significance,\N,missense_variant,22.9,0.000313676,EXAC_AFR_AF,TCOF1
683871,5:149751635:A>G,NM_001135243.1:c.706A>G,NP_001128715.1:p.Arg236Gly,7/27,\N,Likely benign,\N,missense_variant,21.7,0.000264271,EVS_AA_AF,TCOF1
683872,5:149751638:A>G,NM_001135243.1:c.709A>G,NP_001128715.1:p.Lys237Glu,7/27,\N,Likely benign,\N,missense_variant,3.721,0.000015108,EXAC_NFE_AF,TCOF1
683873,5:149751641:G>A,NM_001135243.1:c.712G>A,NP_001128715.1:p.Ala238Thr,7/27,\N,Likely benign,\N,missense_variant,17.74,0.000116171,EXAC_EAS_AF,TCOF1
683874,5:149751642:C>T,NM_001135243.1:c.713C>T,NP_001128715.1:p.Ala238Val,7/27,\N,Likely benign,\N,missense_variant,22.1,0.000484614,EXAC_SAS_AF,TCOF1
683875,5:149751643:G>A,NM_001135243.1:c.714G>A,NP_001128715.1:p.Ala238=,7/27,\N,Unknown significance,\N,synonymous_variant,10.71,0.002,1KG_EUR_AF,TCOF1
683876,5:149751645:C>A,NM_001135243.1:c.716C>A,NP_001128715.1:p.Ala239Asp,7/27,\N,Unknown significance,\N,missense_variant,13.14,\N,\N,TCOF1
683877,5:149751645:C>T,NM_001135243.1:c.716C>T,NP_001128715.1:p.Ala239Val,7/27,\N,Likely benign,\N,missense_variant,10.28,0.0000151012,EXAC_NFE_AF,TCOF1
683878,5:149751652:C>A,NM_001135243.1:c.723C>A,NP_001128715.1:p.Ala241=,7/27,\N,Unknown significance,\N,synonymous_variant,18.35,0.0000151057,EXAC_NFE_AF,TCOF1
683879,5:149751653:C>T,NM_001008657.2:c.724C>T,NP_001008657.1:p.Pro242Ser,7/18,\N,Unknown significance,\N,missense_variant,18.31,0.00112613,EXAC_OTH_AF,TCOF1
683880,5:149751654:C>G,NM_001135243.1:c.725C>G,NP_001128715.1:p.Pro242Arg,7/27,\N,Unknown significance,\N,missense_variant,24.7,0.000207598,EXAC_AFR_AF,TCOF1
683881,5:149751654:CT>C,NM_001135243.1:c.726del,NP_001128715.1:p.Lys244ArgfsTer5,7/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,26.1,\N,\N,TCOF1
683882,5:149751661:G>A,NM_001135243.1:c.732G>A,NP_001128715.1:p.Lys244=,7/27,\N,Unknown significance,\N,synonymous_variant,13.18,0.000121139,EXAC_SAS_AF,TCOF1
683883,5:149751664:G>C,NM_001135243.1:c.735G>C,NP_001128715.1:p.Val245=,7/27,\N,Unknown significance,\N,synonymous_variant,10.43,\N,\N,TCOF1
683884,5:149751666:G>A,NM_001135243.1:c.737G>A,NP_001128715.1:p.Gly246Glu,7/27,\N,Unknown significance,\N,missense_variant,23.7,0.0000754353,EXAC_NFE_AF,TCOF1
683885,5:149751688:A>G,NM_001135243.1:c.759A>G,NP_001128715.1:p.Lys253=,7/27,\N,Unknown significance,\N,synonymous_variant,0.316,0.0000870171,EXAC_AMR_AF,TCOF1
683886,5:149751690:G>A,NM_001135244.1:c.761G>A,NP_001128716.1:p.Gly254Glu,7/26,\N,Likely benign,\N,missense_variant,0.633,0.000015135,EXAC_NFE_AF,TCOF1
683887,5:149751695:G>A,NM_001135243.1:c.766G>A,NP_001128715.1:p.Ala256Thr,7/27,\N,Likely benign,\N,missense_variant,12.36,0.000522921,EXAC_AMR_AF,TCOF1
683888,5:149751699:T>C,NM_001135243.1:c.770T>C,NP_001128715.1:p.Leu257Pro,7/27,\N,Unknown significance,\N,missense_variant,4.035,0.0000151492,EXAC_NFE_AF,TCOF1
683889,5:149751703:C>G,NM_001135243.1:c.774C>G,NP_001128715.1:p.Pro258=,7/27,\N,Unknown significance,\N,synonymous_variant,5.804,0.000117014,EXAC_EAS_AF,TCOF1
683890,5:149751705:C>T,NM_001135243.1:c.776C>T,NP_001128715.1:p.Pro259Leu,7/27,\N,Likely benign,\N,missense_variant,4.105,0.000154464,EXAC_FIN_AF,TCOF1
683891,5:149751729:A>G,NM_001135243.1:c.800A>G,NP_001128715.1:p.Glu267Gly,7/27,\N,Unknown significance,\N,missense_variant,18.84,0.0000887784,EXAC_AMR_AF,TCOF1
683892,5:149751731:G>T,NM_001135243.1:c.802G>T,NP_001128715.1:p.Glu268Ter,7/27,\N,Unknown significance,\N,stop_gained,36,0.000119048,EVS_EA_AF,TCOF1
683893,5:149751733:G>A,NM_001135243.1:c.804G>A,NP_001128715.1:p.Glu268=,7/27,\N,Unknown significance,\N,synonymous_variant,12.25,0.00117647,EXAC_OTH_AF,TCOF1
683894,5:149751739:A>C,NM_001135243.1:c.810A>C,NP_001128715.1:p.Ser270=,7/27,\N,Unknown significance,\N,synonymous_variant,7.383,\N,\N,TCOF1
683895,5:149751743:A>G,NM_001135243.1:c.814A>G,NP_001128715.1:p.Ser272Gly,7/27,\N,Unknown significance,\N,missense_variant,24.1,\N,\N,TCOF1
683896,5:149751745:TAGTGAGGAGGGATCTGAA>T,NM_001135243.1:c.827_844del,NP_001128715.1:p.Gly276_Glu281del,7/27,\N,Likely Benign,\N,inframe_deletion,19.46,0.003,1KG_EUR_AF,TCOF1
683897,5:149751745:TAGTGAGGAGGGATCTG>T,NM_001135243.1:c.818_833del,NP_001128715.1:p.Ser273LysfsTer14,7/27,\N,Benign,\N,frameshift_variant,\N,\N,\N,TCOF1
683898,5:149751753:A>T,NM_001135243.1:c.824A>T,NP_001128715.1:p.Glu275Val,7/27,\N,Unknown significance,\N,missense_variant,25.2,0.000450857,EXAC_SAS_AF,TCOF1
683899,5:149751756:G>A,NM_001135243.1:c.827G>A,NP_001128715.1:p.Gly276Glu,7/27,\N,Benign,\N,missense_variant,0.174,0.0348753,EXAC_FIN_AF,TCOF1
683900,5:149751769:G>A,NM_001135243.1:c.840G>A,NP_001128715.1:p.Glu280=,7/27,\N,Unknown significance,\N,synonymous_variant,9.722,0.000119332,EVS_EA_AF,TCOF1
683901,5:149751791:C>G,NM_001135243.1:c.862C>G,NP_001128715.1:p.Arg288Gly,7/27,\N,Unknown significance,\N,missense_variant,18.5,0.000301341,EXAC_SAS_AF,TCOF1
683902,5:149751792:G>A,NM_001135243.1:c.863G>A,NP_001128715.1:p.Arg288Gln,7/27,\N,Likely benign,\N,missense_variant,15.29,0.000353732,EXAC_EAS_AF,TCOF1
683903,5:149751795:G>A,NM_001135243.1:c.866G>A,NP_001128715.1:p.Ser289Asn,7/27,\N,Likely benign,\N,missense_variant,3.354,0.00144788,EVS_AA_AF,TCOF1
683904,5:149751804:G>C,NM_001135243.1:c.870+5G>C,\N,\N,7/26,Unknown significance,\N,splice_region_variant&intron_variant,7.232,\N,\N,TCOF1
683905,5:149751805:G>T,NM_001135243.1:c.870+6G>T,\N,\N,7/26,Unknown significance,\N,splice_region_variant&intron_variant,0.567,\N,\N,TCOF1
683906,5:149751810:G>C,NM_001135243.1:c.870+11G>C,\N,\N,7/26,Unknown significance,\N,intron_variant,0.592,\N,\N,TCOF1
683907,5:149751826:TGGA>T,NM_001135243.1:c.870+31_870+33del,\N,\N,7/26,Unknown significance,\N,intron_variant,5.017,\N,\N,TCOF1
683908,5:149751832:A>G,NM_001135243.1:c.870+33A>G,\N,\N,7/26,Unknown significance,\N,intron_variant,1.882,0.000414938,EXAC_AMR_AF,TCOF1
683909,5:149751833:C>T,NM_001135243.1:c.870+34C>T,\N,\N,7/26,Unknown significance,\N,intron_variant,2.815,\N,\N,TCOF1
683910,5:149751837:C>T,NM_001135243.1:c.870+38C>T,\N,\N,7/26,Unknown significance,\N,intron_variant,3.973,0.000120744,EVS_EA_AF,TCOF1
683911,5:149751838:G>A,NM_001135243.1:c.870+39G>A,\N,\N,7/26,Unknown significance,\N,intron_variant,7.449,0.00278087,EXAC_AFR_AF,TCOF1
683912,5:149751839:G>T,NM_001135243.1:c.870+40G>T,\N,\N,7/26,Benign,\N,intron_variant,6.844,0.0091,1KG_AFR_AF,TCOF1
683913,5:149751843:C>T,NM_001135243.1:c.870+44C>T,\N,\N,7/26,Unknown significance,\N,intron_variant,10.82,0.0000505612,EXAC_NFE_AF,TCOF1
683914,5:149751845:C>G,NM_001135243.1:c.870+46C>G,\N,\N,7/26,Unknown significance,\N,intron_variant,8.832,\N,\N,TCOF1
683915,5:149751848:G>A,NM_001135243.1:c.870+49G>A,\N,\N,7/26,Unknown significance,\N,intron_variant,9.222,\N,\N,TCOF1
683916,5:149751867:A>G,NM_001135243.1:c.870+68A>G,\N,\N,7/26,Benign,\N,intron_variant,3.576,0.0102,1KG_SAS_AF,TCOF1
683917,5:149751874:C>T,NM_001135243.1:c.870+75C>T,\N,\N,7/26,Unknown significance,\N,intron_variant,6.797,0.001,1KG_EAS_AF,TCOF1
683918,5:149751886:G>A,NM_001135243.1:c.870+87G>A,\N,\N,7/26,Unknown significance,\N,intron_variant,7.792,0.001,1KG_EUR_AF,TCOF1
683919,5:149751899:G>A,NM_001135243.1:c.870+100G>A,\N,\N,7/26,Unknown significance,\N,intron_variant,7.22,0.001,1KG_EUR_AF,TCOF1
683920,5:149751910:G>A,NM_001135243.1:c.870+111G>A,\N,\N,7/26,Unknown significance,\N,intron_variant,2.851,\N,\N,TCOF1
683921,5:149751916:A>G,NM_001135243.1:c.870+117A>G,\N,\N,7/26,Unknown significance,\N,intron_variant,4.571,0.003,1KG_EAS_AF,TCOF1
683922,5:149751958:G>A,NM_001135243.1:c.870+159G>A,\N,\N,7/26,Unknown significance,\N,intron_variant,4.541,0.002,1KG_EAS_AF,TCOF1
683923,5:149751970:G>A,NM_001135243.1:c.870+171G>A,\N,\N,7/26,Unknown significance,\N,intron_variant,6.16,0.0014,1KG_AMR_AF,TCOF1
683924,5:149751977:AC>A,NM_001135243.1:c.870+180del,\N,\N,7/26,Unknown significance,\N,intron_variant,1.864,\N,\N,TCOF1
683925,5:149751981:A>G,NM_001135243.1:c.870+182A>G,\N,\N,7/26,Unknown significance,\N,intron_variant,4.673,0.003,1KG_AFR_AF,TCOF1
683926,5:149751989:T>C,NM_001135243.1:c.870+190T>C,\N,\N,7/26,Unknown significance,\N,intron_variant,5.761,\N,\N,TCOF1
683927,5:149752002:C>T,NM_001135243.1:c.870+203C>T,\N,\N,7/26,Unknown significance,\N,intron_variant,3.845,0.0023,1KG_AFR_AF,TCOF1
683928,5:149752012:G>A,NM_001135243.1:c.870+213G>A,\N,\N,7/26,Unknown significance,\N,intron_variant,6.563,0.001,1KG_EUR_AF,TCOF1
683929,5:149752024:C>T,NM_001135243.1:c.870+225C>T,\N,\N,7/26,Unknown significance,\N,intron_variant,4.064,\N,\N,TCOF1
683930,5:149752025:G>A,NM_001135243.1:c.870+226G>A,\N,\N,7/26,Benign,\N,intron_variant,2.747,0.0101,1KG_AMR_AF,TCOF1
683931,5:149752025:G>C,NM_001135243.1:c.870+226G>C,\N,\N,7/26,Unknown significance,\N,intron_variant,0.696,\N,\N,TCOF1
683932,5:149752092:C>T,NM_001135243.1:c.870+293C>T,\N,\N,7/26,Benign,\N,intron_variant,5.852,0.0098,1KG_AFR_AF,TCOF1
683933,5:149752101:C>A,NM_001135243.1:c.870+302C>A,\N,\N,7/26,Benign,\N,intron_variant,2.474,0.0338,1KG_EUR_AF,TCOF1
683934,5:149752132:G>T,NM_001135243.1:c.870+333G>T,\N,\N,7/26,Benign,\N,intron_variant,5.578,0.0053,1KG_AFR_AF,TCOF1
683935,5:149752137:T>C,NM_001135243.1:c.870+338T>C,\N,\N,7/26,Unknown significance,\N,intron_variant,7.899,\N,\N,TCOF1
683936,5:149752141:G>T,NM_001135243.1:c.870+342G>T,\N,\N,7/26,Unknown significance,\N,intron_variant,4.709,0.001,1KG_EAS_AF,TCOF1
683937,5:149752151:C>G,NM_001135243.1:c.870+352C>G,\N,\N,7/26,Unknown significance,\N,intron_variant,0.939,0.0014,1KG_AMR_AF,TCOF1
683938,5:149752173:G>C,NM_001135243.1:c.870+374G>C,\N,\N,7/26,Benign,\N,intron_variant,0.369,0.0119,1KG_EAS_AF,TCOF1
683939,5:149752187:G>T,NM_001135243.1:c.870+388G>T,\N,\N,7/26,Unknown significance,\N,intron_variant,8.079,\N,\N,TCOF1
683940,5:149752204:A>G,NM_001135243.1:c.870+405A>G,\N,\N,7/26,Unknown significance,\N,intron_variant,11.69,0.0029,1KG_AMR_AF,TCOF1
683941,5:149752213:CAG>C,NM_001135243.1:c.870+415_870+416del,\N,\N,7/26,Unknown significance,\N,intron_variant,\N,\N,\N,TCOF1
683942,5:149752214:A>G,NM_001135243.1:c.870+415A>G,\N,\N,7/26,Unknown significance,\N,intron_variant,10.68,0.0015,1KG_AFR_AF,TCOF1
683943,5:149752215:G>A,NM_001135243.1:c.870+416G>A,\N,\N,7/26,Unknown significance,\N,intron_variant,10.65,\N,\N,TCOF1
683944,5:149752215:G>T,NM_001135243.1:c.870+416G>T,\N,\N,7/26,Unknown significance,\N,intron_variant,9.603,0.0008,1KG_AFR_AF,TCOF1
683945,5:149752216:G>C,NM_001135243.1:c.870+417G>C,\N,\N,7/26,Unknown significance,\N,intron_variant,10.26,0.0043,1KG_AMR_AF,TCOF1
683946,5:149752286:CT>C,NM_001135243.1:c.870+488del,\N,\N,7/26,Unknown significance,\N,intron_variant,4.637,\N,\N,TCOF1
683947,5:149752287:TG>T,NM_001135243.1:c.870+492del,\N,\N,7/26,Benign,\N,intron_variant,0.54,0.4857,1KG_SAS_AF,TCOF1
683948,5:149752303:G>A,NM_001135243.1:c.870+504G>A,\N,\N,7/26,Unknown significance,\N,intron_variant,5.123,\N,\N,TCOF1
683949,5:149752307:G>A,NM_001135243.1:c.870+508G>A,\N,\N,7/26,Unknown significance,\N,intron_variant,3.97,\N,\N,TCOF1
683950,5:149752312:CAGT>C,NM_001135243.1:c.870+516_870+518del,\N,\N,7/26,Unknown significance,\N,intron_variant,\N,\N,\N,TCOF1
683951,5:149752379:A>G,NM_001135243.1:c.870+580A>G,\N,\N,7/26,Unknown significance,\N,intron_variant,4.516,\N,\N,TCOF1
683952,5:149752406:G>A,NM_001135243.1:c.870+607G>A,\N,\N,7/26,Unknown significance,\N,intron_variant,3.589,\N,\N,TCOF1
683953,5:149752406:G>T,NM_001135243.1:c.870+607G>T,\N,\N,7/26,Unknown significance,\N,intron_variant,1.972,0.0041,1KG_SAS_AF,TCOF1
683954,5:149752424:C>T,NM_001135243.1:c.870+625C>T,\N,\N,7/26,Unknown significance,\N,intron_variant,4.863,0.0014,1KG_AMR_AF,TCOF1
683955,5:149752448:G>T,NM_001135243.1:c.870+649G>T,\N,\N,7/26,Unknown significance,\N,intron_variant,6.232,\N,\N,TCOF1
683956,5:149752481:G>C,NM_001135243.1:c.870+682G>C,\N,\N,7/26,Unknown significance,\N,intron_variant,5.131,0.001,1KG_EAS_AF,TCOF1
683957,5:149752521:C>T,NM_001135243.1:c.870+722C>T,\N,\N,7/26,Benign,\N,intron_variant,0.033,0.0083,1KG_AFR_AF,TCOF1
683958,5:149752532:A>G,NM_001135243.1:c.870+733A>G,\N,\N,7/26,Unknown significance,\N,intron_variant,1.443,\N,\N,TCOF1
683959,5:149752569:C>T,NM_001135243.1:c.870+770C>T,\N,\N,7/26,Unknown significance,\N,intron_variant,3.286,0.0008,1KG_AFR_AF,TCOF1
683960,5:149752570:G>A,NM_001135243.1:c.870+771G>A,\N,\N,7/26,Unknown significance,\N,intron_variant,2.968,0.001,1KG_EAS_AF,TCOF1
683961,5:149752572:C>T,NM_001135243.1:c.870+773C>T,\N,\N,7/26,Unknown significance,\N,intron_variant,4.208,0.001,1KG_SAS_AF,TCOF1
683962,5:149752590:A>T,NM_001135243.1:c.870+791A>T,\N,\N,7/26,Unknown significance,\N,intron_variant,1.552,0.0008,1KG_AFR_AF,TCOF1
683963,5:149752605:C>T,NM_001135243.1:c.870+806C>T,\N,\N,7/26,Unknown significance,\N,intron_variant,2.747,\N,\N,TCOF1
683964,5:149752676:C>G,NM_001135243.1:c.870+877C>G,\N,\N,7/26,Unknown significance,\N,intron_variant,4.285,0.001,1KG_EUR_AF,TCOF1
683965,5:149752704:C>T,NM_001135243.1:c.870+905C>T,\N,\N,7/26,Unknown significance,\N,intron_variant,4.852,0.0015,1KG_AFR_AF,TCOF1
683966,5:149752766:A>G,NM_001135243.1:c.870+967A>G,\N,\N,7/26,Benign,\N,intron_variant,7.541,0.0367,1KG_EAS_AF,TCOF1
683967,5:149752773:G>A,NM_001135243.1:c.871-964G>A,\N,\N,7/26,Unknown significance,\N,intron_variant,2.99,\N,\N,TCOF1
683968,5:149752775:T>TTG,NM_001135243.1:c.871-940_871-939dup,\N,\N,7/26,Unknown significance,\N,intron_variant,4.793,\N,\N,TCOF1
683969,5:149752775:TTG>T,NM_001135243.1:c.871-940_871-939del,\N,\N,7/26,Unknown significance,\N,intron_variant,5.305,\N,\N,TCOF1
683970,5:149752775:TTGTGTG>T,NM_001135243.1:c.871-944_871-939del,\N,\N,7/26,Benign,\N,intron_variant,\N,0.0061,1KG_AFR_AF,TCOF1
683971,5:149752785:G>T,NM_001135243.1:c.871-952G>T,\N,\N,7/26,Unknown significance,\N,intron_variant,0.655,\N,\N,TCOF1
683972,5:149752795:G>A,NM_001135243.1:c.871-942G>A,\N,\N,7/26,Benign,\N,intron_variant,5.77,0.0061,1KG_SAS_AF,TCOF1
683973,5:149752831:T>G,NM_001135243.1:c.871-906T>G,\N,\N,7/26,Unknown significance,\N,intron_variant,10.29,0.0008,1KG_AFR_AF,TCOF1
683974,5:149752871:C>T,NM_001135243.1:c.871-866C>T,\N,\N,7/26,Unknown significance,\N,intron_variant,1.059,0.0008,1KG_AFR_AF,TCOF1
683975,5:149752872:G>A,NM_001135243.1:c.871-865G>A,\N,\N,7/26,Benign,\N,intron_variant,0.627,0.059,1KG_AFR_AF,TCOF1
683976,5:149752894:G>A,NM_001135243.1:c.871-843G>A,\N,\N,7/26,Unknown significance,\N,intron_variant,8.269,\N,\N,TCOF1
683977,5:149752896:A>G,NM_001135243.1:c.871-841A>G,\N,\N,7/26,Unknown significance,\N,intron_variant,10.06,\N,\N,TCOF1
683978,5:149752897:C>A,NM_001135243.1:c.871-840C>A,\N,\N,7/26,Unknown significance,\N,intron_variant,10.91,\N,\N,TCOF1
683979,5:149752918:T>C,NM_001135243.1:c.871-819T>C,\N,\N,7/26,Unknown significance,\N,intron_variant,10.3,0.0014,1KG_AMR_AF,TCOF1
683980,5:149752952:A>T,NM_001135243.1:c.871-785A>T,\N,\N,7/26,Unknown significance,\N,intron_variant,0.793,0.001,1KG_SAS_AF,TCOF1
683981,5:149752964:G>C,NM_001135243.1:c.871-773G>C,\N,\N,7/26,Unknown significance,\N,intron_variant,0.214,\N,\N,TCOF1
683982,5:149752983:T>C,NM_001135243.1:c.871-754T>C,\N,\N,7/26,Benign,\N,intron_variant,9.364,0.0144,1KG_AFR_AF,TCOF1
683983,5:149753011:G>A,NM_001135243.1:c.871-726G>A,\N,\N,7/26,Unknown significance,\N,intron_variant,4.72,\N,\N,TCOF1
683984,5:149753030:C>G,NM_001135243.1:c.871-707C>G,\N,\N,7/26,Benign,\N,intron_variant,14.56,0.0109,1KG_EAS_AF,TCOF1
683985,5:149753034:G>A,NM_001135243.1:c.871-703G>A,\N,\N,7/26,Unknown significance,\N,intron_variant,14.59,0.0015,1KG_AFR_AF,TCOF1
683986,5:149753035:C>T,NM_001135243.1:c.871-702C>T,\N,\N,7/26,Benign,\N,intron_variant,14.29,0.0734,1KG_AFR_AF,TCOF1
683987,5:149753055:T>C,NM_001135243.1:c.871-682T>C,\N,\N,7/26,Unknown significance,\N,intron_variant,3.618,0.001,1KG_SAS_AF,TCOF1
683988,5:149753065:C>T,NM_001135243.1:c.871-672C>T,\N,\N,7/26,Unknown significance,\N,intron_variant,8.437,0.001,1KG_EUR_AF,TCOF1
683989,5:149753070:C>T,NM_001135243.1:c.871-667C>T,\N,\N,7/26,Unknown significance,\N,intron_variant,3.94,\N,\N,TCOF1
683990,5:149753125:G>A,NM_001135243.1:c.871-612G>A,\N,\N,7/26,Unknown significance,\N,intron_variant,4.262,0.001,1KG_SAS_AF,TCOF1
683991,5:149753129:G>C,NM_001135243.1:c.871-608G>C,\N,\N,7/26,Unknown significance,\N,intron_variant,0.494,0.0014,1KG_AMR_AF,TCOF1
683992,5:149753132:C>T,NM_001135243.1:c.871-605C>T,\N,\N,7/26,Unknown significance,\N,intron_variant,2.521,\N,\N,TCOF1
683993,5:149753140:C>T,NM_001135243.1:c.871-597C>T,\N,\N,7/26,Benign,\N,intron_variant,1.873,0.0144,1KG_AFR_AF,TCOF1
683994,5:149753144:G>A,NM_001135243.1:c.871-593G>A,\N,\N,7/26,Benign,\N,intron_variant,2.294,0.0318,1KG_EUR_AF,TCOF1
683995,5:149753149:G>C,NM_001135243.1:c.871-588G>C,\N,\N,7/26,Unknown significance,\N,intron_variant,0.962,\N,\N,TCOF1
683996,5:149753183:C>T,NM_001135243.1:c.871-554C>T,\N,\N,7/26,Benign,\N,intron_variant,7.659,0.0265,1KG_AFR_AF,TCOF1
683997,5:149753244:G>C,NM_001135243.1:c.871-493G>C,\N,\N,7/26,Unknown significance,\N,intron_variant,2.239,\N,\N,TCOF1
683998,5:149753248:G>A,NM_001135243.1:c.871-489G>A,\N,\N,7/26,Unknown significance,\N,intron_variant,5.163,0.0008,1KG_AFR_AF,TCOF1
683999,5:149753252:C>A,NM_001135243.1:c.871-485C>A,\N,\N,7/26,Unknown significance,\N,intron_variant,6.875,\N,\N,TCOF1
684000,5:149753272:CT>C,NM_001135243.1:c.871-462del,\N,\N,7/26,Unknown significance,\N,intron_variant,\N,\N,\N,TCOF1
684001,5:149753302:C>G,NM_001135243.1:c.871-435C>G,\N,\N,7/26,Unknown significance,\N,intron_variant,4.237,\N,\N,TCOF1
684002,5:149753318:AC>A,NM_001135243.1:c.871-414del,\N,\N,7/26,Unknown significance,\N,intron_variant,4.146,0.003,1KG_AFR_AF,TCOF1
684003,5:149753344:G>T,NM_001135243.1:c.871-393G>T,\N,\N,7/26,Unknown significance,\N,intron_variant,0.593,0.0008,1KG_AFR_AF,TCOF1
684004,5:149753352:C>A,NM_001135243.1:c.871-385C>A,\N,\N,7/26,Benign,\N,intron_variant,0.374,0.0318,1KG_AFR_AF,TCOF1
684005,5:149753353:G>A,NM_001135243.1:c.871-384G>A,\N,\N,7/26,Unknown significance,\N,intron_variant,1.233,\N,\N,TCOF1
684006,5:149753361:A>C,NM_001135243.1:c.871-376A>C,\N,\N,7/26,Unknown significance,\N,intron_variant,0.198,\N,\N,TCOF1
684007,5:149753427:G>T,NM_001135243.1:c.871-310G>T,\N,\N,7/26,Benign,\N,intron_variant,0.144,0.0079,1KG_EAS_AF,TCOF1
684008,5:149753434:G>A,NM_001135243.1:c.871-303G>A,\N,\N,7/26,Unknown significance,\N,intron_variant,2.586,0.0015,1KG_AFR_AF,TCOF1
684009,5:149753448:A>G,NM_001135243.1:c.871-289A>G,\N,\N,7/26,Unknown significance,\N,intron_variant,3.26,0.0023,1KG_AFR_AF,TCOF1
684010,5:149753466:G>A,NM_001135243.1:c.871-271G>A,\N,\N,7/26,Unknown significance,\N,intron_variant,2.948,0.0045,1KG_AFR_AF,TCOF1
684011,5:149753488:CAG>C,NM_001135243.1:c.871-246_871-245del,\N,\N,7/26,Unknown significance,\N,intron_variant,\N,\N,\N,TCOF1
684012,5:149753518:CAG>C,NM_001135243.1:c.871-218_871-217del,\N,\N,7/26,Unknown significance,\N,intron_variant,\N,\N,\N,TCOF1
684013,5:149753519:AG>A,NM_001135243.1:c.871-213del,\N,\N,7/26,Unknown significance,\N,intron_variant,\N,\N,\N,TCOF1
684014,5:149753526:A>G,NM_001135243.1:c.871-211A>G,\N,\N,7/26,Benign,\N,intron_variant,3.668,0.0143,1KG_SAS_AF,TCOF1
684015,5:149753546:A>T,NM_001135243.1:c.871-191A>T,\N,\N,7/26,Unknown significance,\N,intron_variant,2.042,\N,\N,TCOF1
684016,5:149753601:T>A,NM_001135243.1:c.871-136T>A,\N,\N,7/26,Unknown significance,\N,intron_variant,5.262,0.001,1KG_SAS_AF,TCOF1
684017,5:149753647:G>A,NM_001135243.1:c.871-90G>A,\N,\N,7/26,Unknown significance,\N,intron_variant,6.434,0.001,1KG_EAS_AF,TCOF1
684018,5:149753684:C>T,NM_001135243.1:c.871-53C>T,\N,\N,7/26,Unknown significance,\N,intron_variant,4.789,0.001,1KG_EAS_AF,TCOF1
684019,5:149753688:A>G,NM_001135243.1:c.871-49A>G,\N,\N,7/26,Unknown significance,\N,intron_variant,4.733,0.00118203,EVS_AA_AF,TCOF1
684020,5:149753689:G>C,NM_001135243.1:c.871-48G>C,\N,\N,7/26,Unknown significance,\N,intron_variant,1.096,\N,\N,TCOF1
684021,5:149753697:T>A,NM_001135243.1:c.871-40T>A,\N,\N,7/26,Unknown significance,\N,intron_variant,5.762,0.0043,1KG_AMR_AF,TCOF1
684022,5:149753698:C>T,NM_001135243.1:c.871-39C>T,\N,\N,7/26,Unknown significance,\N,intron_variant,3.624,0.001,1KG_EUR_AF|1KG_SAS_AF,TCOF1
684023,5:149753702:A>C,NM_001135243.1:c.871-35A>C,\N,\N,7/26,Unknown significance,\N,intron_variant,2.09,\N,\N,TCOF1
684024,5:149753704:C>G,NM_001135243.1:c.871-33C>G,\N,\N,7/26,Unknown significance,\N,intron_variant,4.512,0.000164962,EXAC_AMR_AF,TCOF1
684025,5:149753704:C>T,NM_001135243.1:c.871-33C>T,\N,\N,7/26,Unknown significance,\N,intron_variant,5.282,0.001,1KG_SAS_AF,TCOF1
684026,5:149753707:G>A,NM_001135243.1:c.871-30G>A,\N,\N,7/26,Unknown significance,\N,intron_variant,4.671,0.000161238,EXAC_AMR_AF,TCOF1
684027,5:149753720:C>G,NM_001135243.1:c.871-17C>G,\N,\N,7/26,Unknown significance,\N,intron_variant,0.734,0.000163452,EXAC_SAS_AF,TCOF1
684028,5:149753731:C>T,NM_001135243.1:c.871-6C>T,\N,\N,7/26,Unknown significance,\N,splice_region_variant&intron_variant,1.556,0.0000781616,EXAC_SAS_AF,TCOF1
684029,5:149753734:C>A,NM_001135243.1:c.871-3C>A,\N,\N,7/26,Unknown significance,\N,splice_region_variant&intron_variant,5.698,0.00169492,EXAC_OTH_AF,TCOF1
684030,5:149753735:A>G,NM_001135243.1:c.871-2A>G,\N,\N,7/26,Unknown significance,\N,splice_acceptor_variant,14.88,0.0000245122,EXAC_NFE_AF,TCOF1
684031,5:149753749:GA>G,NM_001135243.1:c.889del,NP_001128715.1:p.Ile297PhefsTer30,8/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,22.3,\N,\N,TCOF1
684032,5:149753758:C>A,NM_001135243.1:c.892C>A,NP_001128715.1:p.Leu298Ile,8/27,\N,Likely benign,\N,missense_variant,11.38,\N,\N,TCOF1
684033,5:149753762:A>C,NM_001135243.1:c.896A>C,NP_001128715.1:p.Gln299Pro,8/27,\N,Likely benign,\N,missense_variant,1.285,0.000104559,EXAC_AMR_AF,TCOF1
684034,5:149753762:A>G,NM_001135243.1:c.896A>G,NP_001128715.1:p.Gln299Arg,8/27,\N,Unknown significance,\N,missense_variant,14.92,0.000152905,EXAC_AFR_AF,TCOF1
684035,5:149753777:C>T,NM_001135243.1:c.911C>T,NP_001128715.1:p.Ser304Leu,8/27,\N,Unknown significance,\N,missense_variant,15.14,0.000558128,EXAC_NFE_AF,TCOF1
684036,5:149753782:C>G,NM_001135243.1:c.916C>G,NP_001128715.1:p.Pro306Ala,8/27,\N,Likely benign,\N,missense_variant,0.001,0.000214869,EXAC_FIN_AF,TCOF1
684037,5:149753790:G>A,NM_001135243.1:c.924G>A,NP_001128715.1:p.Lys308=,8/27,\N,Unknown significance,\N,synonymous_variant,9.447,0.001,1KG_EAS_AF,TCOF1
684038,5:149753791:G>C,NM_001135243.1:c.925G>C,NP_001128715.1:p.Gly309Arg,8/27,\N,Unknown significance,\N,missense_variant,23.2,\N,\N,TCOF1
684039,5:149753794:AC>A,NM_001135243.1:c.932del,NP_001128715.1:p.Pro311LeufsTer16,8/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,23.3,\N,\N,TCOF1
684040,5:149753796:C>G,NM_001135243.1:c.930C>G,NP_001128715.1:p.Thr310=,8/27,\N,Unknown significance,\N,synonymous_variant,10.59,0.00159795,EXAC_AFR_AF,TCOF1
684041,5:149753797:C>T,NM_001135243.1:c.931C>T,NP_001128715.1:p.Pro311Ser,8/27,\N,Likely benign,\N,missense_variant,4.693,0.000161134,EXAC_AFR_AF,TCOF1
684042,5:149753800:G>A,NM_001135243.1:c.934G>A,NP_001128715.1:p.Gly312Arg,8/27,\N,Unknown significance,\N,missense_variant,19.13,0.000075861,EXAC_SAS_AF,TCOF1
684043,5:149753801:G>C,NM_001135243.1:c.935G>C,NP_001128715.1:p.Gly312Ala,8/27,\N,Unknown significance,\N,missense_variant,8.317,\N,\N,TCOF1
684044,5:149753811:TACCCCAGC>T,NM_001135243.1:c.951_958del,NP_001128715.1:p.Ala318TrpfsTer28,8/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,24.4,\N,\N,TCOF1
684045,5:149753812:A>G,NM_001135243.1:c.946A>G,NP_001128715.1:p.Thr316Ala,8/27,\N,Likely benign,\N,missense_variant,0.004,0.00036483,EXAC_EAS_AF,TCOF1
684046,5:149753816:C>T,NM_001135243.1:c.950C>T,NP_001128715.1:p.Pro317Leu,8/27,\N,Likely benign,\N,missense_variant,23,0.000116414,EVS_EA_AF,TCOF1
684047,5:149753817:A>C,NM_001135243.1:c.951A>C,NP_001128715.1:p.Pro317=,8/27,\N,Unknown significance,\N,synonymous_variant,0.027,0.00014828,EXAC_AMR_AF,TCOF1
684048,5:149753820:A>AC,NM_001135243.1:c.959dup,NP_001128715.1:p.Gly321TrpfsTer28,8/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,21.1,\N,\N,TCOF1
684049,5:149753822:C>G,NM_001135243.1:c.956C>G,NP_001128715.1:p.Pro319Arg,8/27,\N,Unknown significance,\N,missense_variant,22.9,0.0000290192,EXAC_NFE_AF,TCOF1
684050,5:149753822:C>T,NM_000356.3:c.725C>T,NP_000347.2:p.Pro242Leu,7/26,\N,Likely benign,\N,missense_variant,9.814,0.0000580383,EXAC_NFE_AF,TCOF1
684051,5:149753824:C>G,NM_001135243.1:c.958C>G,NP_001128715.1:p.Pro320Ala,8/27,\N,Unknown significance,\N,missense_variant,0.083,\N,\N,TCOF1
684052,5:149753827:G>A,NM_001135243.1:c.961G>A,NP_001128715.1:p.Gly321Arg,8/27,\N,Unknown significance,\N,missense_variant,23.3,0.00162009,EXAC_AFR_AF,TCOF1
684053,5:149753834:C>T,NM_001135243.1:c.968C>T,NP_001128715.1:p.Ala323Val,8/27,\N,Likely benign,\N,missense_variant,14.09,0.0000890948,EXAC_SAS_AF,TCOF1
684054,5:149753839:G>A,NM_001135243.1:c.973G>A,NP_001128715.1:p.Ala325Thr,8/27,\N,Likely benign,\N,missense_variant,8.296,0.000215332,EXAC_AMR_AF,TCOF1
684055,5:149753840:C>A,NM_001008657.2:c.974C>A,NP_001008657.1:p.Ala325Asp,8/18,\N,Likely benign,\N,missense_variant,20.8,0.000116387,EVS_EA_AF,TCOF1
684056,5:149753840:C>CT,NM_001135243.1:c.975dup,NP_001128715.1:p.Val326CysfsTer23,8/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,23.1,\N,\N,TCOF1
684057,5:149753841:T>G,NM_001135243.1:c.975T>G,NP_001128715.1:p.Ala325=,8/27,\N,Unknown significance,\N,synonymous_variant,4.526,0.000261917,EXAC_EAS_AF,TCOF1
684058,5:149753851:C>T,NM_001135243.1:c.985C>T,NP_001128715.1:p.Gln329Ter,8/27,\N,Pathogenic,Treacher-Collins syndrome,stop_gained,33,\N,\N,TCOF1
684059,5:149753865:G>A,NM_001135243.1:c.999G>A,NP_001128715.1:p.Gly333=,8/27,\N,Unknown significance,\N,synonymous_variant,5.721,0.00428214,EXAC_NFE_AF,TCOF1
684060,5:149753865:G>C,NM_001135243.1:c.999G>C,NP_001128715.1:p.Gly333=,8/27,\N,Unknown significance,\N,synonymous_variant,1.552,0.0000481139,EXAC_NFE_AF,TCOF1
684061,5:149753868:G>A,NM_001135243.1:c.1002G>A,NP_001128715.1:p.Lys334=,8/27,\N,Unknown significance,\N,synonymous_variant,11.51,0.000101874,EXAC_SAS_AF,TCOF1
684062,5:149753871:A>C,NM_001135243.1:c.1005A>C,NP_001128715.1:p.Pro335=,8/27,\N,Unknown significance,\N,synonymous_variant,0.158,0.000615258,EXAC_SAS_AF,TCOF1
684063,5:149753882:C>G,NM_001135243.1:c.1016C>G,NP_001128715.1:p.Ser339Ter,8/27,\N,Pathogenic,Treacher-Collins syndrome,stop_gained,35,\N,\N,TCOF1
684064,5:149753882:CA>C,NM_001135243.1:c.1017del,NP_001128715.1:p.Glu340ArgfsTer153,8/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,5.117,\N,\N,TCOF1
684065,5:149753882:CAG>C,NM_001135243.1:c.1021_1022del,NP_001128715.1:p.Ser341GlnfsTer7,8/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,26.7,\N,\N,TCOF1
684066,5:149753894:G>A,NM_001135243.1:c.1028G>A,NP_001128715.1:p.Ser343Asn,8/27,\N,Benign*,\N,missense_variant,23.4,0.0231214,EXAC_FIN_AF,TCOF1
684067,5:149753895:C>T,NM_001135243.1:c.1029C>T,NP_001128715.1:p.Ser343=,8/27,\N,Unknown significance,\N,synonymous_variant,12.03,0.0008,1KG_AFR_AF,TCOF1
684068,5:149753896:G>A,NM_001135243.1:c.1030G>A,NP_001128715.1:p.Glu344Lys,8/27,\N,Likely benign,\N,missense_variant,17.23,0.000739645,EXAC_AMR_AF,TCOF1
684069,5:149753900:A>G,NM_001135243.1:c.1034A>G,NP_001128715.1:p.Glu345Gly,8/27,\N,Unknown significance,\N,missense_variant,22.2,0.00458155,EXAC_AFR_AF,TCOF1
684070,5:149753904:A>G,NM_001135243.1:c.1038A>G,NP_001128715.1:p.Ser346=,8/27,\N,Unknown significance,\N,synonymous_variant,3.876,0.000311139,EXAC_AFR_AF,TCOF1
684071,5:149753907:T>C,NM_001135243.1:c.1041T>C,NP_001128715.1:p.Ser347=,8/27,\N,Unknown significance,\N,synonymous_variant,0.41,0.0000808277,EXAC_NFE_AF,TCOF1
684072,5:149753911:A>G,NM_000356.3:c.814A>G,NP_000347.2:p.Ser272Gly,7/26,\N,Pathogenic,Deafness,missense_variant,23.9,0.000948767,EXAC_EAS_AF,TCOF1
684073,5:149753912:G>T,NM_001135243.1:c.1046G>T,NP_001128715.1:p.Ser349Ile,8/27,\N,Unknown significance,\N,missense_variant,25.9,\N,\N,TCOF1
684074,5:149753921:A>G,NM_000356.3:c.824A>G,NP_000347.2:p.Glu275Gly,7/26,\N,Unknown significance,\N,missense_variant,24.1,\N,\N,TCOF1
684075,5:149753924:C>T,NM_001135245.1:c.827C>T,NP_001128717.1:p.Thr276Met,7/26,\N,Likely benign,\N,missense_variant,9.109,\N,\N,TCOF1
684076,5:149753925:G>A,NM_001135243.1:c.1059G>A,NP_001128715.1:p.Thr353=,8/27,\N,Unknown significance,\N,synonymous_variant,9.132,0.00012285,EXAC_SAS_AF,TCOF1
684077,5:149753929:G>A,NM_001135243.1:c.1063G>A,NP_001128715.1:p.Ala355Thr,8/27,\N,Unknown significance,\N,missense_variant,20.1,\N,\N,TCOF1
684078,5:149753932:G>A,NM_001135243.1:c.1066G>A,NP_001128715.1:p.Ala356Thr,8/27,\N,Likely benign,\N,missense_variant,17.19,0.00177936,EXAC_AMR_AF,TCOF1
684079,5:149753934:C>G,NM_001135243.1:c.1068C>G,NP_001128715.1:p.Ala356=,8/27,\N,Unknown significance,\N,synonymous_variant,8.772,\N,\N,TCOF1
684080,5:149753935:A>C,NM_001135243.1:c.1069A>C,NP_001128715.1:p.Lys357Gln,8/27,\N,Likely benign,\N,missense_variant,1.626,\N,\N,TCOF1
684081,5:149753937:G>A,NM_001135243.1:c.1071G>A,NP_001128715.1:p.Lys357=,8/27,\N,Unknown significance,\N,synonymous_variant,8.171,0.000358166,EXAC_AFR_AF,TCOF1
684082,5:149753961:G>A,NM_001135243.1:c.1083+12G>A,\N,\N,8/26,Unknown significance,\N,intron_variant,4.046,0.00439883,EXAC_EAS_AF,TCOF1
684083,5:149753972:C>A,NM_001135243.1:c.1083+23C>A,\N,\N,8/26,Unknown significance,\N,intron_variant,4.602,\N,\N,TCOF1
684084,5:149753972:C>G,NM_001135243.1:c.1083+23C>G,\N,\N,8/26,Unknown significance,\N,intron_variant,3.059,0.0008,1KG_AFR_AF,TCOF1
684085,5:149753975:T>A,NM_001135243.1:c.1083+26T>A,\N,\N,8/26,Unknown significance,\N,intron_variant,4.09,\N,\N,TCOF1
684086,5:149753986:C>A,NM_001135243.1:c.1083+37C>A,\N,\N,8/26,Unknown significance,\N,intron_variant,8.695,\N,\N,TCOF1
684087,5:149753987:C>A,NM_001135243.1:c.1083+38C>A,\N,\N,8/26,Unknown significance,\N,intron_variant,9.134,\N,\N,TCOF1
684088,5:149753988:G>A,NM_001135243.1:c.1083+39G>A,\N,\N,8/26,Benign,\N,intron_variant,6.711,0.137931,EXAC_FIN_AF,TCOF1
684089,5:149753994:A>G,NM_001135243.1:c.1083+45A>G,\N,\N,8/26,Unknown significance,\N,intron_variant,11.72,0.0014,1KG_AMR_AF,TCOF1
684090,5:149753996:A>G,NM_001135243.1:c.1083+47A>G,\N,\N,8/26,Unknown significance,\N,intron_variant,11.4,\N,\N,TCOF1
684091,5:149754000:C>T,NM_001135243.1:c.1083+51C>T,\N,\N,8/26,Unknown significance,\N,intron_variant,12.88,\N,\N,TCOF1
684092,5:149754043:C>T,NM_001135243.1:c.1083+94C>T,\N,\N,8/26,Unknown significance,\N,intron_variant,1.743,\N,\N,TCOF1
684093,5:149754044:G>A,NM_001135243.1:c.1083+95G>A,\N,\N,8/26,Unknown significance,\N,intron_variant,3.01,\N,\N,TCOF1
684094,5:149754071:C>T,NM_001135243.1:c.1084-109C>T,\N,\N,8/26,Unknown significance,\N,intron_variant,2.752,0.001,1KG_SAS_AF,TCOF1
684095,5:149754115:G>A,NM_001135243.1:c.1084-65G>A,\N,\N,8/26,Unknown significance,\N,intron_variant,1.376,0.001,1KG_SAS_AF,TCOF1
684096,5:149754130:T>A,NM_001135243.1:c.1084-50T>A,\N,\N,8/26,Unknown significance,\N,intron_variant,8.74,0.0000302544,EXAC_NFE_AF,TCOF1
684097,5:149754130:T>TC,NM_001135243.1:c.1084-48dup,\N,\N,8/26,Unknown significance,\N,intron_variant,5.254,0.0000868206,EXAC_AMR_AF,TCOF1
684098,5:149754133:T>C,NM_001135243.1:c.1084-47T>C,\N,\N,8/26,Unknown significance,\N,intron_variant,4.79,0.0000151263,EXAC_NFE_AF,TCOF1
684099,5:149754135:A>G,NM_001135243.1:c.1084-45A>G,\N,\N,8/26,Unknown significance,\N,intron_variant,4.439,0.0000151277,EXAC_NFE_AF,TCOF1
684100,5:149754138:C>T,NM_001135243.1:c.1084-42C>T,\N,\N,8/26,Unknown significance,\N,intron_variant,1.789,0.001,1KG_SAS_AF,TCOF1
684101,5:149754139:G>A,NM_001135243.1:c.1084-41G>A,\N,\N,8/26,Unknown significance,\N,intron_variant,0.496,0.0000867905,EXAC_AMR_AF,TCOF1
684102,5:149754143:A>G,NM_001135243.1:c.1084-37A>G,\N,\N,8/26,Unknown significance,\N,intron_variant,2.549,0.00035203,EVS_EA_AF,TCOF1
684103,5:149754144:T>C,NM_001135243.1:c.1084-36T>C,\N,\N,8/26,Unknown significance,\N,intron_variant,2.662,0.00229043,EVS_AA_AF,TCOF1
684104,5:149754145:C>G,NM_001135243.1:c.1084-35C>G,\N,\N,8/26,Unknown significance,\N,intron_variant,3.94,0.000151561,EXAC_FIN_AF,TCOF1
684105,5:149754146:C>A,NM_001135243.1:c.1084-34C>A,\N,\N,8/26,Unknown significance,\N,intron_variant,4.216,0.0000974659,EXAC_AFR_AF,TCOF1
684106,5:149754149:T>C,NM_001135243.1:c.1084-31T>C,\N,\N,8/26,Unknown significance,\N,intron_variant,3.168,0.001,1KG_SAS_AF,TCOF1
684107,5:149754153:C>A,NM_001135243.1:c.1084-27C>A,\N,\N,8/26,Unknown significance,\N,intron_variant,5.465,0.0000151167,EXAC_NFE_AF,TCOF1
684108,5:149754162:C>G,NM_001135243.1:c.1084-18C>G,\N,\N,8/26,Unknown significance,\N,intron_variant,1.174,0.00110865,EXAC_OTH_AF,TCOF1
684109,5:149754166:T>A,NM_001135243.1:c.1084-14T>A,\N,\N,8/26,Unknown significance,\N,intron_variant,4.124,0.0000151103,EXAC_NFE_AF,TCOF1
684110,5:149754169:T>TGA,NM_001135243.1:c.1084-10_1084-9insAG,\N,\N,8/26,Unknown significance,\N,intron_variant,1.571,\N,\N,TCOF1
684111,5:149754171:T>G,NM_001135243.1:c.1084-9T>G,\N,\N,8/26,Unknown significance,\N,intron_variant,1.837,0.0000453227,EXAC_NFE_AF,TCOF1
684112,5:149754176:C>A,NM_001135243.1:c.1084-4C>A,\N,\N,8/26,Unknown significance,\N,splice_region_variant&intron_variant,7.667,0.000115607,EXAC_EAS_AF,TCOF1
684113,5:149754181:C>A,NM_000356.3:c.854C>A,NP_000347.2:p.Ala285Glu,8/26,\N,Likely benign,\N,missense_variant&splice_region_variant,22.7,\N,\N,TCOF1
684114,5:149754182:G>A,NM_001135243.1:c.1086G>A,NP_001128715.1:p.Ala362=,9/27,\N,Likely benign,Treacher collins syndrome 1,splice_region_variant&synonymous_variant,2.056,0.0008,1KG_AFR_AF,TCOF1
684115,5:149754187:C>A,NM_001135243.1:c.1091C>A,NP_001128715.1:p.Ala364Asp,9/27,\N,Unknown significance,\N,missense_variant,24.6,0.0000605987,EXAC_SAS_AF,TCOF1
684116,5:149754187:C>T,NM_000356.3:c.860C>T,NP_000347.2:p.Ala287Val,8/26,\N,Unknown significance,\N,missense_variant,20.6,0.0000151039,EXAC_NFE_AF,TCOF1
684117,5:149754190:CAG>C,NM_001135243.1:c.1095_1096del,NP_001128715.1:p.Gly366LysfsTer54,9/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,25.3,\N,\N,TCOF1
684118,5:149754192:G>C,NM_001008657.2:c.1096G>C,NP_001008657.1:p.Gly366Arg,9/18,\N,Unknown significance,\N,missense_variant,20.9,0.000181818,EXAC_SAS_AF,TCOF1
684119,5:149754192:G>T,NM_001135243.1:c.1096G>T,NP_001128715.1:p.Gly366Ter,9/27,\N,Pathogenic,Treacher-Collins syndrome,stop_gained,35,\N,\N,TCOF1
684120,5:149754202:C>G,NM_001135243.1:c.1106C>G,NP_001128715.1:p.Ser369Cys,9/27,\N,Likely benign,\N,missense_variant,16.35,0.0000301987,EXAC_NFE_AF,TCOF1
684121,5:149754202:C>T,NM_001135243.1:c.1106C>T,NP_001128715.1:p.Ser369Phe,9/27,\N,Likely benign,\N,missense_variant,15.67,0.0000301987,EXAC_NFE_AF,TCOF1
684122,5:149754203:T>G,NM_001135243.1:c.1107T>G,NP_001128715.1:p.Ser369=,9/27,\N,Unknown significance,\N,synonymous_variant,6.353,0.000121168,EXAC_SAS_AF,TCOF1
684123,5:149754204:C>G,NM_001135243.1:c.1108C>G,NP_001128715.1:p.Gln370Glu,9/27,\N,Unknown significance,\N,missense_variant,22.1,0.000349406,EVS_EA_AF,TCOF1
684124,5:149754205:A>G,NM_001135243.1:c.1109A>G,NP_001128715.1:p.Gln370Arg,9/27,\N,Likely benign,\N,missense_variant,19.55,0.0008,1KG_AFR_AF,TCOF1
684125,5:149754209:C>T,NM_001135243.1:c.1113C>T,NP_001128715.1:p.Val371=,9/27,\N,Unknown significance,\N,synonymous_variant,17.17,0.0000605914,EXAC_SAS_AF,TCOF1
684126,5:149754210:G>A,NM_001135243.1:c.1114G>A,NP_001128715.1:p.Gly372Arg,9/27,\N,Likely benign,\N,missense_variant,0.739,0.0000150957,EXAC_NFE_AF,TCOF1
684127,5:149754216:G>A,NM_001135243.1:c.1120G>A,NP_001128715.1:p.Ala374Thr,9/27,\N,Likely benign,\N,missense_variant,13.51,0.00011558,EXAC_EAS_AF,TCOF1
684128,5:149754216:G>T,NM_001135243.1:c.1120G>T,NP_001128715.1:p.Ala374Ser,9/27,\N,Benign,\N,missense_variant,12.09,0.0102,1KG_SAS_AF,TCOF1
684129,5:149754218:C>T,NM_001135243.1:c.1122C>T,NP_001128715.1:p.Ala374=,9/27,\N,Unknown significance,\N,synonymous_variant,15.68,\N,\N,TCOF1
684130,5:149754220:C>T,NM_000356.3:c.893C>T,NP_000347.2:p.Ser298Leu,8/26,\N,Likely benign,\N,missense_variant,24.8,0.0000905496,EXAC_NFE_AF,TCOF1
684131,5:149754221:A>G,NM_001135243.1:c.1125A>G,NP_001128715.1:p.Ser375=,9/27,\N,Unknown significance,\N,synonymous_variant,8.287,0.000195503,EXAC_AFR_AF,TCOF1
684132,5:149754224:C>A,NM_001135243.1:c.1128C>A,NP_001128715.1:p.Ala376=,9/27,\N,Unknown significance,\N,synonymous_variant,17.42,0.000116333,EVS_EA_AF,TCOF1
684133,5:149754224:C>G,NM_001135243.1:c.1128C>G,NP_001128715.1:p.Ala376=,9/27,\N,Unknown significance,\N,synonymous_variant,13.24,0.0000865052,EXAC_AMR_AF,TCOF1
684134,5:149754226:C>T,NM_001135244.1:c.1130C>T,NP_001128716.1:p.Pro377Leu,9/26,\N,Unknown significance,\N,missense_variant,24.7,0.0014,1KG_AMR_AF,TCOF1
684135,5:149754229:C>T,NM_001135243.1:c.1133C>T,NP_001128715.1:p.Ala378Val,9/27,\N,Benign,\N,missense_variant,22.5,0.0461,1KG_AFR_AF,TCOF1
684136,5:149754236:G>A,NM_001135243.1:c.1140G>A,NP_001128715.1:p.Glu380=,9/27,\N,Unknown significance,\N,synonymous_variant,12.49,0.0000452844,EXAC_NFE_AF,TCOF1
684137,5:149754237:T>A,NM_001135243.1:c.1141T>A,NP_001128715.1:p.Ser381Thr,9/27,\N,Likely benign,\N,missense_variant,18.01,0.00011558,EXAC_EAS_AF,TCOF1
684138,5:149754238:C>T,NM_000356.3:c.911C>T,NP_000347.2:p.Ser304Phe,8/26,\N,Unknown significance,\N,missense_variant,26.2,0.0000150953,EXAC_NFE_AF,TCOF1
684139,5:149754239:C>T,NM_001135243.1:c.1143C>T,NP_001128715.1:p.Ser381=,9/27,\N,Unknown significance,\N,synonymous_variant,18.87,0.00023116,EXAC_EAS_AF,TCOF1
684140,5:149754257:C>A,NM_001135243.1:c.1161C>A,NP_001128715.1:p.Ala387=,9/27,\N,Unknown significance,\N,synonymous_variant,20.7,0.0000868056,EXAC_AMR_AF,TCOF1
684141,5:149754258:C>G,NM_001135243.1:c.1162C>G,NP_001128715.1:p.Pro388Ala,9/27,\N,Likely benign,\N,missense_variant,17.35,0.0000605914,EXAC_SAS_AF,TCOF1
684142,5:149754261:G>C,NM_000356.3:c.934G>C,NP_000347.2:p.Ala312Pro,8/26,\N,Unknown significance,\N,missense_variant,22.9,0.000303067,EXAC_SAS_AF,TCOF1
684143,5:149754262:C>T,NM_001135245.1:c.935C>T,NP_001128717.1:p.Ala312Val,8/26,\N,Likely benign,\N,missense_variant,17.07,0.0000151423,EXAC_NFE_AF,TCOF1
684144,5:149754263:G>T,NM_001135243.1:c.1167G>T,NP_001128715.1:p.Ala389=,9/27,\N,Unknown significance,\N,synonymous_variant,14.7,0.0000151474,EXAC_NFE_AF,TCOF1
684145,5:149754264:C>A,NM_001135243.1:c.1168C>A,NP_001128715.1:p.Pro390Thr,9/27,\N,Likely benign,\N,missense_variant,1.177,\N,\N,TCOF1
684146,5:149754265:C>A,NM_001135243.1:c.1169C>A,NP_001128715.1:p.Pro390His,9/27,\N,Unknown significance,\N,missense_variant,23.3,0.0000868961,EXAC_AMR_AF,TCOF1
684147,5:149754266:C>T,NM_001135243.1:c.1170C>T,NP_001128715.1:p.Pro390=,9/27,\N,Unknown significance,\N,synonymous_variant,18.43,0.0000988924,EXAC_AFR_AF,TCOF1
684148,5:149754269:T>C,NM_001135243.1:c.1173T>C,NP_001128715.1:p.Pro391=,9/27,\N,Unknown significance,\N,synonymous_variant,9.372,0.0000151791,EXAC_NFE_AF,TCOF1
684149,5:149754271:G>T,NM_001008657.2:c.1175G>T,NP_001008657.1:p.Gly392Val,9/18,\N,Unknown significance,\N,missense_variant,23.9,0.0000303813,EXAC_NFE_AF,TCOF1
684150,5:149754281:G>C,NM_001135243.1:c.1185G>C,NP_001128715.1:p.Gly395=,9/27,\N,Unknown significance,\N,synonymous_variant,10.77,0.000117869,EXAC_EAS_AF,TCOF1
684151,5:149754284:T>C,NM_001135243.1:c.1188T>C,NP_001128715.1:p.Pro396=,9/27,\N,Unknown significance,\N,synonymous_variant,9.299,0.000235738,EXAC_EAS_AF,TCOF1
684152,5:149754297:G>A,NM_001135243.1:c.1201G>A,NP_001128715.1:p.Ala401Thr,9/27,\N,Likely benign,\N,missense_variant,24.5,0.000116279,EVS_EA_AF,TCOF1
684153,5:149754304:C>G,NM_001135243.1:c.1208C>G,NP_001128715.1:p.Ala403Gly,9/27,\N,Likely benign,\N,missense_variant,6.512,0.0000157848,EXAC_NFE_AF,TCOF1
684154,5:149754304:C>T,NM_001135243.1:c.1208C>T,NP_001128715.1:p.Ala403Val,9/27,\N,Likely benign,\N,missense_variant,8.952,0.0000157848,EXAC_NFE_AF,TCOF1
684155,5:149754305:G>A,NM_001135243.1:c.1209G>A,NP_001128715.1:p.Ala403=,9/27,\N,Unknown significance,\N,synonymous_variant,6.249,0.0000917431,EXAC_AMR_AF,TCOF1
684156,5:149754308:G>C,NM_001135243.1:c.1212G>C,NP_001128715.1:p.Gly404=,9/27,\N,Unknown significance,\N,synonymous_variant,1.814,0.001,1KG_EAS_AF,TCOF1
684157,5:149754312:C>T,NM_001135243.1:c.1216C>T,NP_001128715.1:p.Arg406Trp,9/27,\N,Likely benign,\N,missense_variant,22.8,0.0000639427,EXAC_NFE_AF,TCOF1
684158,5:149754313:G>A,NM_001135243.1:c.1217G>A,NP_001128715.1:p.Arg406Gln,9/27,\N,Likely benign,\N,missense_variant,0.009,0.0015,1KG_AFR_AF,TCOF1
684159,5:149754316:A>G,NM_001135243.1:c.1220A>G,NP_001128715.1:p.Glu407Gly,9/27,\N,Unknown significance,\N,missense_variant,23.9,\N,\N,TCOF1
684160,5:149754324:T>C,NM_001135243.1:c.1228T>C,NP_001128715.1:p.Ser410Pro,9/27,\N,Likely benign,\N,missense_variant,3.989,0.000198807,EXAC_AMR_AF,TCOF1
684161,5:149754325:C>T,NM_001135243.1:c.1229C>T,NP_001128715.1:p.Ser410Leu,9/27,\N,Benign,\N,missense_variant,10.97,0.0477,1KG_AFR_AF,TCOF1
684162,5:149754326:G>A,NM_001135243.1:c.1230G>A,NP_001128715.1:p.Ser410=,9/27,\N,Unknown significance,\N,synonymous_variant,9.124,0.000131752,EXAC_EAS_AF,TCOF1
684163,5:149754332:C>T,NM_001135243.1:c.1236C>T,NP_001128715.1:p.Ser412=,9/27,\N,Unknown significance,\N,synonymous_variant,11.74,0.001,1KG_EUR_AF,TCOF1
684164,5:149754334:G>A,NM_001135243.1:c.1238G>A,NP_001128715.1:p.Ser413Asn,9/27,\N,Unknown significance,\N,missense_variant,24.3,0.000211551,EXAC_AMR_AF,TCOF1
684165,5:149754336:A>G,NM_001008657.2:c.1240A>G,NP_001008657.1:p.Ser414Gly,9/18,\N,Unknown significance,\N,missense_variant,24,0.0008,1KG_AFR_AF,TCOF1
684166,5:149754338:C>T,NM_001135243.1:c.1242C>T,NP_001128715.1:p.Ser414=,9/27,\N,Likely benign,Treacher collins syndrome 1,synonymous_variant,12.4,0.0000172159,EXAC_NFE_AF,TCOF1
684167,5:149754339:G>A,NM_001135243.1:c.1243G>A,NP_001128715.1:p.Glu415Lys,9/27,\N,Likely benign,\N,missense_variant,24.4,0.000416435,EXAC_EAS_AF,TCOF1
684168,5:149754342:G>T,NM_001135243.1:c.1246G>T,NP_001128715.1:p.Glu416Ter,9/27,\N,Pathogenic,Treacher-Collins syndrome,stop_gained,35,\N,\N,TCOF1
684169,5:149754346:C>T,NM_001135243.1:c.1250C>T,NP_001128715.1:p.Ser417Leu,9/27,\N,Unknown significance,\N,missense_variant,25.7,0.0000175809,EXAC_NFE_AF,TCOF1
684170,5:149754347:G>A,NM_001135243.1:c.1251G>A,NP_001128715.1:p.Ser417=,9/27,\N,Unknown significance,\N,synonymous_variant,9.915,0.000116279,EVS_EA_AF,TCOF1
684171,5:149754348:G>A,NM_000356.3:c.1021G>A,NP_000347.2:p.Asp341Asn,8/26,\N,Unknown significance,\N,missense_variant,21.4,0.0000644579,EXAC_SAS_AF,TCOF1
684172,5:149754364:C>T,NM_001135243.1:c.1268C>T,NP_001128715.1:p.Ala423Val,9/27,\N,Likely benign,\N,missense_variant,14.79,0.000117206,EXAC_AFR_AF,TCOF1
684173,5:149754365:G>A,NM_001135243.1:c.1269G>A,NP_001128715.1:p.Ala423=,9/27,\N,Benign,\N,synonymous_variant,9.96,0.0254237,EXAC_EAS_AF,TCOF1
684174,5:149754369:G>A,NM_001008657.2:c.1273G>A,NP_001008657.1:p.Ala425Thr,9/18,\N,Likely benign,\N,missense_variant,8.774,0.000130174,EXAC_AMR_AF,TCOF1
684175,5:149754383:G>A,NM_001135243.1:c.1278+9G>A,\N,\N,9/26,Unknown significance,\N,intron_variant,7.221,0.0002035,EXAC_FIN_AF,TCOF1
684176,5:149754384:A>G,NM_001135243.1:c.1278+10A>G,\N,\N,9/26,Unknown significance,\N,intron_variant,3.59,0.000159541,EXAC_EAS_AF,TCOF1
684177,5:149754385:G>A,NM_001135243.1:c.1278+11G>A,\N,\N,9/26,Unknown significance,\N,intron_variant,5.2,0.000282965,EXAC_AMR_AF,TCOF1
684178,5:149754387:G>A,NM_001135243.1:c.1278+13G>A,\N,\N,9/26,Unknown significance,\N,intron_variant,6.168,0.0000195572,EXAC_NFE_AF,TCOF1
684179,5:149754388:G>A,NM_001135243.1:c.1278+14G>A,\N,\N,9/26,Unknown significance,\N,intron_variant,4.436,0.00417896,EXAC_AFR_AF,TCOF1
684180,5:149754397:A>G,NM_001135243.1:c.1278+23A>G,\N,\N,9/26,Unknown significance,\N,intron_variant,5.511,0.0000198342,EXAC_NFE_AF,TCOF1
684181,5:149754406:C>G,NM_001135243.1:c.1278+32C>G,\N,\N,9/26,Unknown significance,\N,intron_variant,2.563,\N,\N,TCOF1
684182,5:149754409:T>G,NM_001135243.1:c.1278+35T>G,\N,\N,9/26,Unknown significance,\N,intron_variant,5.733,0.000284819,EXAC_AMR_AF,TCOF1
684183,5:149754410:G>T,NM_001135243.1:c.1278+36G>T,\N,\N,9/26,Unknown significance,\N,intron_variant,3.449,0.000196742,EXAC_NFE_AF,TCOF1
684184,5:149754418:C>T,NM_001135243.1:c.1278+44C>T,\N,\N,9/26,Unknown significance,\N,intron_variant,2.579,0.000348581,EXAC_NFE_AF,TCOF1
684185,5:149754422:G>A,NM_001135243.1:c.1278+48G>A,\N,\N,9/26,Unknown significance,\N,intron_variant,5.33,0.0000191666,EXAC_NFE_AF,TCOF1
684186,5:149754434:G>C,NM_001135243.1:c.1278+60G>C,\N,\N,9/26,Benign,\N,intron_variant,1.773,0.0129,1KG_EUR_AF,TCOF1
684187,5:149754463:T>C,NM_001135243.1:c.1279-54T>C,\N,\N,9/26,Unknown significance,\N,intron_variant,3.264,0.001,1KG_EAS_AF,TCOF1
684188,5:149754466:C>T,NM_001135243.1:c.1279-51C>T,\N,\N,9/26,Unknown significance,\N,intron_variant,6.103,0.0000153111,EXAC_NFE_AF,TCOF1
684189,5:149754473:C>T,NM_001135243.1:c.1279-44C>T,\N,\N,9/26,Unknown significance,\N,intron_variant,7.438,0.0000153275,EXAC_NFE_AF,TCOF1
684190,5:149754474:G>A,NM_001135243.1:c.1279-43G>A,\N,\N,9/26,Unknown significance,\N,intron_variant,5.473,0.001,1KG_EAS_AF,TCOF1
684191,5:149754474:G>T,NM_001135243.1:c.1279-43G>T,\N,\N,9/26,Unknown significance,\N,intron_variant,2.187,0.000116333,EVS_EA_AF,TCOF1
684192,5:149754479:C>T,NM_001135243.1:c.1279-38C>T,\N,\N,9/26,Unknown significance,\N,intron_variant,7.117,0.0000606355,EXAC_SAS_AF,TCOF1
684193,5:149754495:CT>C,NM_001135243.1:c.1279-21del,\N,\N,9/26,Unknown significance,\N,intron_variant,7.057,\N,\N,TCOF1
684194,5:149754507:C>T,NM_001135243.1:c.1279-10C>T,\N,\N,9/26,Unknown significance,\N,intron_variant,9.182,0.0000152868,EXAC_NFE_AF,TCOF1
684195,5:149754519:G>A,NM_001135243.1:c.1281G>A,NP_001128715.1:p.Ala427=,10/27,\N,Benign,\N,splice_region_variant&synonymous_variant,6.167,0.0115,1KG_AMR_AF,TCOF1
684196,5:149754522:GC>G,NM_001135243.1:c.1286del,NP_001128715.1:p.Pro429LeufsTer64,10/27,\N,Unknown significance,\N,frameshift_variant,\N,\N,\N,TCOF1
684197,5:149754535:G>C,NM_001135243.1:c.1297G>C,NP_001128715.1:p.Ala433Pro,10/27,\N,Likely benign,\N,missense_variant,6.307,0.000116279,EXAC_EAS_AF,TCOF1
684198,5:149754535:G>T,NM_001135243.1:c.1297G>T,NP_001128715.1:p.Ala433Ser,10/27,\N,Likely benign,\N,missense_variant,0.109,0.0000153036,EXAC_NFE_AF,TCOF1
684199,5:149754535:G>GC,NM_001135243.1:c.1303dup,NP_001128715.1:p.Gln435ProfsTer23,10/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,23.7,\N,\N,TCOF1
684200,5:149754535:GC>G,NM_001135243.1:c.1303del,NP_001128715.1:p.Gln435ArgfsTer58,10/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,23.5,\N,\N,TCOF1
684201,5:149754536:C>T,NM_001135243.1:c.1298C>T,NP_001128715.1:p.Ala433Val,10/27,\N,Likely benign,\N,missense_variant,11.3,0.000173551,EXAC_AMR_AF,TCOF1
684202,5:149754537:C>A,NM_001135243.1:c.1299C>A,NP_001128715.1:p.Ala433=,10/27,\N,Unknown significance,\N,synonymous_variant,13.96,0.003,1KG_EAS_AF,TCOF1
684203,5:149754538:C>T,NM_001135243.1:c.1300C>T,NP_001128715.1:p.Pro434Ser,10/27,\N,Likely benign,\N,missense_variant,0.018,0.0046797,EXAC_AFR_AF,TCOF1
684204,5:149754543:G>A,NM_001135243.1:c.1305G>A,NP_001128715.1:p.Gln435=,10/27,\N,Unknown significance,\N,synonymous_variant,3.15,0.0000152971,EXAC_NFE_AF,TCOF1
684205,5:149754551:C>T,NM_001135243.1:c.1313C>T,NP_001128715.1:p.Ala438Val,10/27,\N,Unknown significance,\N,missense_variant,23.1,0.000116333,EXAC_EAS_AF,TCOF1
684206,5:149754552:C>T,NM_001135243.1:c.1314C>T,NP_001128715.1:p.Ala438=,10/27,\N,Unknown significance,\N,synonymous_variant,15.34,0.000227169,EVS_AA_AF,TCOF1
684207,5:149754553:G>A,NM_001135243.1:c.1315G>A,NP_001128715.1:p.Ala439Thr,10/27,\N,Pathogenic,Hemifacial microsomia,missense_variant,23.1,0.00011636,EXAC_EAS_AF,TCOF1
684208,5:149754553:G>C,NM_001135243.1:c.1315G>C,NP_001128715.1:p.Ala439Pro,10/27,\N,Unknown significance,\N,missense_variant,22.9,0.000104866,EXAC_AFR_AF,TCOF1
684209,5:149754554:C>T,NM_001135244.1:c.1316C>T,NP_001128716.1:p.Ala439Val,10/26,\N,Likely benign,\N,missense_variant,25.5,0.0000605694,EXAC_SAS_AF,TCOF1
684210,5:149754557:C>T,NM_001008657.2:c.1319C>T,NP_001008657.1:p.Ser440Leu,10/18,\N,Likely benign,\N,missense_variant,11.03,0.000260417,EXAC_AMR_AF,TCOF1
684211,5:149754558:G>A,NM_001135243.1:c.1320G>A,NP_001128715.1:p.Ser440=,10/27,\N,Unknown significance,\N,synonymous_variant,9.725,0.000116333,EXAC_EAS_AF,TCOF1
684212,5:149754560:C>T,NM_001135243.1:c.1322C>T,NP_001128715.1:p.Ala441Val,10/27,\N,Likely benign,\N,missense_variant,22.6,0.000545124,EXAC_SAS_AF,TCOF1
684213,5:149754563:C>T,NM_001135243.1:c.1325C>T,NP_001128715.1:p.Pro442Leu,10/27,\N,Likely benign,\N,missense_variant,9.551,0.000116306,EXAC_EAS_AF,TCOF1
684214,5:149754565:GC>G,NM_001135243.1:c.1329del,NP_001128715.1:p.Lys444ArgfsTer49,10/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,25,\N,\N,TCOF1
684215,5:149754568:A>G,NM_000356.3:c.1099A>G,NP_000347.2:p.Lys367Glu,9/26,\N,Unknown significance,\N,missense_variant,22,0.000015321,EXAC_NFE_AF,TCOF1
684216,5:149754568:A>T,NM_001135243.1:c.1330A>T,NP_001128715.1:p.Lys444Ter,10/27,\N,Pathogenic,Treacher-Collins syndrome,stop_gained,35,\N,\N,TCOF1
684217,5:149754573:G>A,NM_001135243.1:c.1335G>A,NP_001128715.1:p.Glu445=,10/27,\N,Unknown significance,\N,synonymous_variant,7.923,0.0000868056,EXAC_AMR_AF,TCOF1
684218,5:149754574:T>TC,NM_001135243.1:c.1341dup,NP_001128715.1:p.Arg448GlnfsTer10,10/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,24.4,\N,\N,TCOF1
684219,5:149754585:AG>A,NM_001135243.1:c.1351del,NP_001128715.1:p.Ala451LeufsTer42,10/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,22.7,\N,\N,TCOF1
684220,5:149754588:G>A,NM_001135243.1:c.1350G>A,NP_001128715.1:p.Gly450=,10/27,\N,Unknown significance,\N,synonymous_variant,5.579,0.000116306,EVS_EA_AF,TCOF1
684221,5:149754591:T>G,NM_001135243.1:c.1353T>G,NP_001128715.1:p.Ala451=,10/27,\N,Unknown significance,\N,synonymous_variant,7.605,0.0000868206,EXAC_AMR_AF,TCOF1
684222,5:149754597:A>G,NM_001135243.1:c.1359A>G,NP_001128715.1:p.Pro453=,10/27,\N,Unknown significance,\N,synonymous_variant,1.45,0.000232666,EXAC_EAS_AF,TCOF1
684223,5:149754599:C>T,NM_001135243.1:c.1361C>T,NP_001128715.1:p.Ala454Val,10/27,\N,Likely benign,\N,missense_variant,6.353,0.0015,1KG_AFR_AF,TCOF1
684224,5:149754604:C>G,NM_001135243.1:c.1366C>G,NP_001128715.1:p.Pro456Ala,10/27,\N,Unknown significance,\N,missense_variant,13.8,0.000302994,EXAC_SAS_AF,TCOF1
684225,5:149754609:G>A,NM_001135243.1:c.1371G>A,NP_001128715.1:p.Arg457=,10/27,\N,Unknown significance,\N,synonymous_variant,7.909,0.0000919822,EXAC_NFE_AF,TCOF1
684226,5:149754617:G>A,NM_001135243.1:c.1379G>A,NP_001128715.1:p.Gly460Glu,10/27,\N,Likely benign,\N,missense_variant,13.43,\N,\N,TCOF1
684227,5:149754617:G>T,NM_001135243.1:c.1379G>T,NP_001128715.1:p.Gly460Val,10/27,\N,Likely benign,\N,missense_variant,3.87,0.0014,1KG_AMR_AF,TCOF1
684228,5:149754620:C>T,NM_000356.3:c.1151C>T,NP_000347.2:p.Pro384Leu,9/26,\N,Unknown significance,\N,missense_variant,22.8,0.001,1KG_EUR_AF,TCOF1
684229,5:149754624:A>G,NM_001135243.1:c.1386A>G,NP_001128715.1:p.Ala462=,10/27,\N,Unknown significance,\N,synonymous_variant,6.814,\N,\N,TCOF1
684230,5:149754627:C>A,NM_001135243.1:c.1389C>A,NP_001128715.1:p.Ala463=,10/27,\N,Unknown significance,\N,synonymous_variant,15.88,0.001,1KG_EUR_AF,TCOF1
684231,5:149754627:C>T,NM_001135243.1:c.1389C>T,NP_001128715.1:p.Ala463=,10/27,\N,Unknown significance,\N,synonymous_variant,14.86,0.000116279,EVS_EA_AF,TCOF1
684232,5:149754628:G>A,NM_001135243.1:c.1390G>A,NP_001128715.1:p.Ala464Thr,10/27,\N,Likely benign,\N,missense_variant,0.002,0.00158874,EVS_AA_AF,TCOF1
684233,5:149754630:C>T,NM_001135243.1:c.1392C>T,NP_001128715.1:p.Ala464=,10/27,\N,Unknown significance,\N,synonymous_variant,13.43,0.0000153304,EXAC_NFE_AF,TCOF1
684234,5:149754633:G>GT,NM_001135243.1:c.1395_1396insT,NP_001128715.1:p.Val466CysfsTer20,10/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,26.3,\N,\N,TCOF1
684235,5:149754647:A>G,NM_001135243.1:c.1409A>G,NP_001128715.1:p.Lys470Arg,10/27,\N,Likely benign,\N,missense_variant,0.038,0.0000153163,EXAC_NFE_AF,TCOF1
684236,5:149754649:CAGG>C,NM_001135243.1:c.1419_1421del,NP_001128715.1:p.Glu473del,10/27,\N,Unknown significance,\N,inframe_deletion,9.002,\N,\N,TCOF1
684237,5:149754656:A>T,NM_001135243.1:c.1418A>T,NP_001128715.1:p.Glu473Val,10/27,\N,Likely benign,\N,missense_variant,22.6,0.000104319,EXAC_AFR_AF,TCOF1
684238,5:149754664:A>G,NM_001135243.1:c.1426A>G,NP_001128715.1:p.Arg476Gly,10/27,\N,Likely benign,\N,missense_variant,3.774,0.0000153417,EXAC_NFE_AF,TCOF1
684239,5:149754666:A>C,NM_001135243.1:c.1428A>C,NP_001128715.1:p.Arg476Ser,10/27,\N,Likely benign,\N,missense_variant,0.006,0.0000153417,EXAC_NFE_AF,TCOF1
684240,5:149754675:C>T,NM_001135243.1:c.1437C>T,NP_001128715.1:p.Ser479=,10/27,\N,Unknown significance,\N,synonymous_variant,13.63,0.001,1KG_EUR_AF,TCOF1
684241,5:149754680:A>C,NM_001008657.2:c.1442A>C,NP_001008657.1:p.Glu481Ala,10/18,\N,Unknown significance,\N,missense_variant,23,0.000116306,EVS_EA_AF,TCOF1
684242,5:149754683:C>CA,NM_001135243.1:c.1446dup,NP_001128715.1:p.Asp483ArgfsTer3,10/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,26.6,\N,\N,TCOF1
684243,5:149754687:C>G,NM_001135243.1:c.1449C>G,NP_001128715.1:p.Asp483Glu,10/27,\N,Likely benign,\N,missense_variant,20.9,0.000182526,EXAC_SAS_AF,TCOF1
684244,5:149754688:A>G,NM_001135243.1:c.1450A>G,NP_001128715.1:p.Ser484Gly,10/27,\N,Unknown significance,\N,missense_variant,23.8,0.0000154679,EXAC_NFE_AF,TCOF1
684245,5:149754698:A>C,NM_001135244.1:c.1460A>C,NP_001128716.1:p.Glu487Ala,10/26,\N,Unknown significance,\N,missense_variant,7,0.0000157035,EXAC_NFE_AF,TCOF1
684246,5:149754708:A>C,NM_001135243.1:c.1470A>C,NP_001128715.1:p.Ala490=,10/27,\N,Unknown significance,\N,synonymous_variant,0.441,0.000159134,EXAC_FIN_AF,TCOF1
684247,5:149754709:G>GC,NM_001135243.1:c.1473dup,NP_001128715.1:p.Met492HisfsTer58,10/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,26.6,\N,\N,TCOF1
684248,5:149754712:A>G,NM_001135243.1:c.1474A>G,NP_001128715.1:p.Met492Val,10/27,\N,Likely benign,\N,missense_variant,0.381,0.0000157099,EXAC_NFE_AF,TCOF1
684249,5:149754715:A>G,NM_001008657.2:c.1477A>G,NP_001008657.1:p.Asn493Asp,10/18,\N,Unknown significance,\N,missense_variant,1.279,0.001,1KG_EAS_AF,TCOF1
684250,5:149754717:T>C,NM_001135243.1:c.1479T>C,NP_001128715.1:p.Asn493=,10/27,\N,Unknown significance,\N,synonymous_variant,0.184,\N,\N,TCOF1
684251,5:149754719:C>T,NM_001135243.1:c.1481C>T,NP_001128715.1:p.Ala494Val,10/27,\N,Likely benign,\N,missense_variant,3.556,0.00117096,EXAC_OTH_AF,TCOF1
684252,5:149754720:A>C,NM_001135243.1:c.1482A>C,NP_001128715.1:p.Ala494=,10/27,\N,Unknown significance,\N,synonymous_variant,0.32,0.000227687,EVS_AA_AF,TCOF1
684253,5:149754727:G>A,NM_001135243.1:c.1488+1G>A,\N,\N,10/26,Unknown significance,\N,splice_donor_variant,23.2,0.0000611546,EXAC_SAS_AF,TCOF1
684254,5:149754728:T>G,NM_001135243.1:c.1488+2T>G,\N,\N,10/26,Unknown significance,\N,splice_donor_variant,23.8,0.0000611696,EXAC_SAS_AF,TCOF1
684255,5:149754729:G>A,NM_001135243.1:c.1488+3G>A,\N,\N,10/26,Unknown significance,\N,splice_region_variant&intron_variant,12.62,0.000116333,EVS_EA_AF,TCOF1
684256,5:149754735:G>A,NM_001135243.1:c.1488+9G>A,\N,\N,10/26,Unknown significance,\N,intron_variant,15.32,0.0000909422,EXAC_AMR_AF,TCOF1
684257,5:149754741:C>T,NM_001135243.1:c.1488+15C>T,\N,\N,10/26,Unknown significance,\N,intron_variant,12.16,0.0000613121,EXAC_SAS_AF,TCOF1
684258,5:149754742:G>A,NM_001135243.1:c.1488+16G>A,\N,\N,10/26,Benign,\N,intron_variant,12.4,0.00909918,EVS_AA_AF,TCOF1
684259,5:149754743:C>T,NM_001135243.1:c.1488+17C>T,\N,\N,10/26,Unknown significance,\N,intron_variant,13.48,0.0000161791,EXAC_NFE_AF,TCOF1
684260,5:149754748:C>T,NM_001135243.1:c.1488+22C>T,\N,\N,10/26,Unknown significance,\N,intron_variant,12.27,0.000116387,EVS_EA_AF,TCOF1
684261,5:149754756:G>A,NM_001135243.1:c.1488+30G>A,\N,\N,10/26,Unknown significance,\N,intron_variant,7.748,0.0000162369,EXAC_NFE_AF,TCOF1
684262,5:149754761:C>T,NM_001135243.1:c.1488+35C>T,\N,\N,10/26,Unknown significance,\N,intron_variant,1.168,0.001,1KG_SAS_AF,TCOF1
684263,5:149754763:G>A,NM_001135243.1:c.1488+37G>A,\N,\N,10/26,Unknown significance,\N,intron_variant,4.973,0.00119048,EXAC_OTH_AF,TCOF1
684264,5:149754769:A>G,NM_001135243.1:c.1488+43A>G,\N,\N,10/26,Unknown significance,\N,intron_variant,1.013,0.000125282,EXAC_EAS_AF,TCOF1
684265,5:149754773:A>ACCT,NM_001135243.1:c.1488+51_1488+53dup,\N,\N,10/26,Unknown significance,\N,intron_variant,0.475,0.0000161624,EXAC_NFE_AF,TCOF1
684266,5:149754775:C>A,NM_001135243.1:c.1488+49C>A,\N,\N,10/26,Unknown significance,\N,intron_variant,4.97,0.000183352,EXAC_SAS_AF,TCOF1
684267,5:149754776:T>C,NM_001135243.1:c.1488+50T>C,\N,\N,10/26,Unknown significance,\N,intron_variant,3.898,0.0000161348,EXAC_NFE_AF,TCOF1
684268,5:149754780:G>C,NM_001135243.1:c.1488+54G>C,\N,\N,10/26,Unknown significance,\N,intron_variant,1.317,0.0014,1KG_AMR_AF,TCOF1
684269,5:149754789:A>G,NM_001135243.1:c.1488+63A>G,\N,\N,10/26,Unknown significance,\N,intron_variant,2.526,0.001,1KG_EAS_AF,TCOF1
684270,5:149754800:C>T,NM_001135243.1:c.1488+74C>T,\N,\N,10/26,Unknown significance,\N,intron_variant,6.733,\N,\N,TCOF1
684271,5:149754806:C>G,NM_001135243.1:c.1488+80C>G,\N,\N,10/26,Unknown significance,\N,intron_variant,5.244,0.001,1KG_EAS_AF,TCOF1
684272,5:149754819:C>T,NM_001135243.1:c.1489-83C>T,\N,\N,10/26,Unknown significance,\N,intron_variant,3.111,0.0015,1KG_AFR_AF,TCOF1
684273,5:149754820:G>A,NM_001135243.1:c.1489-82G>A,\N,\N,10/26,Benign,\N,intron_variant,0.083,0.149,1KG_AFR_AF,TCOF1
684274,5:149754840:C>G,NM_001135243.1:c.1489-62C>G,\N,\N,10/26,Unknown significance,\N,intron_variant,4.218,\N,\N,TCOF1
684275,5:149754851:C>G,NM_001135243.1:c.1489-51C>G,\N,\N,10/26,Unknown significance,\N,intron_variant,2.768,0.000237756,EVS_AA_AF,TCOF1
684276,5:149754853:C>T,NM_001135243.1:c.1489-49C>T,\N,\N,10/26,Unknown significance,\N,intron_variant,0.399,0.0000865351,EXAC_AMR_AF,TCOF1
684277,5:149754854:A>G,NM_001135243.1:c.1489-48A>G,\N,\N,10/26,Unknown significance,\N,intron_variant,0.202,0.0014,1KG_AMR_AF,TCOF1
684278,5:149754863:C>G,NM_001135243.1:c.1489-39C>G,\N,\N,10/26,Unknown significance,\N,intron_variant,3.18,0.0000865202,EXAC_AMR_AF,TCOF1
684279,5:149754864:T>G,NM_001135243.1:c.1489-38T>G,\N,\N,10/26,Unknown significance,\N,intron_variant,5.468,0.0000616067,EXAC_SAS_AF,TCOF1
684280,5:149754865:G>T,NM_001135243.1:c.1489-37G>T,\N,\N,10/26,Unknown significance,\N,intron_variant,2.541,0.0000309751,EXAC_NFE_AF,TCOF1
684281,5:149754868:C>G,NM_001135243.1:c.1489-34C>G,\N,\N,10/26,Unknown significance,\N,intron_variant,6.639,0.0000154837,EXAC_NFE_AF,TCOF1
684282,5:149754869:TC>T,NM_001135243.1:c.1489-30del,\N,\N,10/26,Unknown significance,\N,intron_variant,4.539,0.000123229,EXAC_SAS_AF,TCOF1
684283,5:149754872:C>T,NM_001135243.1:c.1489-30C>T,\N,\N,10/26,Unknown significance,\N,intron_variant,7.19,0.00114155,EXAC_OTH_AF,TCOF1
684284,5:149754875:C>T,NM_001135243.1:c.1489-27C>T,\N,\N,10/26,Unknown significance,\N,intron_variant,7.298,0.0000154871,EXAC_NFE_AF,TCOF1
684285,5:149754882:T>G,NM_001135243.1:c.1489-20T>G,\N,\N,10/26,Unknown significance,\N,intron_variant,4.868,0.0000154703,EXAC_NFE_AF,TCOF1
684286,5:149754885:T>C,NM_001135243.1:c.1489-17T>C,\N,\N,10/26,Unknown significance,\N,intron_variant,3.002,0.0000309339,EXAC_NFE_AF,TCOF1
684287,5:149754889:T>A,NM_001135243.1:c.1489-13T>A,\N,\N,10/26,Unknown significance,\N,intron_variant,2.955,0.0000613798,EXAC_SAS_AF,TCOF1
684288,5:149754891:G>A,NM_001135243.1:c.1489-11G>A,\N,\N,10/26,Unknown significance,\N,intron_variant,4.875,0.000115848,EXAC_EAS_AF,TCOF1
684289,5:149754896:TCCCAGGTGAAGCCCTTGGGGAAAAGCC>T,NM_001135243.1:c.1494_1520del,NP_001128715.1:p.Leu500_Pro508del,11/27,10/26,Unknown significance,\N,splice_acceptor_variant&coding_sequence_variant&intron_variant,26,\N,\N,TCOF1
684290,5:149754908:C>T,NM_001135243.1:c.1495C>T,NP_001128715.1:p.Pro499Ser,11/27,\N,Likely benign,\N,missense_variant,8.751,0.0000154235,EXAC_NFE_AF,TCOF1
684291,5:149754915:G>A,NM_001135243.1:c.1502G>A,NP_001128715.1:p.Gly501Glu,11/27,\N,Likely benign,\N,missense_variant,11.42,0.00206233,EVS_AA_AF,TCOF1
684292,5:149754919:A>G,NM_001135243.1:c.1506A>G,NP_001128715.1:p.Lys502=,11/27,\N,Unknown significance,\N,synonymous_variant,0.702,0.002,1KG_SAS_AF,TCOF1
684293,5:149754927:A>G,NM_001135243.1:c.1514A>G,NP_001128715.1:p.Gln505Arg,11/27,\N,Unknown significance,\N,missense_variant,7.577,\N,\N,TCOF1
684294,5:149754928:G>T,NM_001135243.1:c.1515G>T,NP_001128715.1:p.Gln505His,11/27,\N,Unknown significance,\N,missense_variant,18.83,\N,\N,TCOF1
684295,5:149754929:G>A,NM_001135243.1:c.1516G>A,NP_001128715.1:p.Val506Met,11/27,\N,Unknown significance,\N,missense_variant,20.8,0.000151194,EXAC_FIN_AF,TCOF1
684296,5:149754930:T>TG,NM_001135243.1:c.1518dup,NP_001128715.1:p.Lys507GlufsTer43,11/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,24,\N,\N,TCOF1
684297,5:149754931:G>A,NM_001135243.1:c.1518G>A,NP_001128715.1:p.Val506=,11/27,\N,Unknown significance,\N,synonymous_variant,8.598,\N,\N,TCOF1
684298,5:149754934:A>C,NM_001135243.1:c.1521A>C,NP_001128715.1:p.Lys507Asn,11/27,\N,Likely benign,\N,missense_variant,19.12,\N,\N,TCOF1
684299,5:149754936:C>T,NM_001135243.1:c.1523C>T,NP_001128715.1:p.Pro508Leu,11/27,\N,Unknown significance,\N,missense_variant,21.6,0.0000458365,EXAC_NFE_AF,TCOF1
684300,5:149754939:C>T,NM_001008657.2:c.1526C>T,NP_001008657.1:p.Ala509Val,11/18,\N,Likely benign,\N,missense_variant,22.4,0.0008,1KG_AFR_AF,TCOF1
684301,5:149754947:A>G,NM_001135243.1:c.1534A>G,NP_001128715.1:p.Met512Val,11/27,\N,Likely benign,\N,missense_variant,0.002,0.000231535,EXAC_EAS_AF,TCOF1
684302,5:149754948:T>C,NM_001135243.1:c.1535T>C,NP_001128715.1:p.Met512Thr,11/27,\N,Likely benign,\N,missense_variant,0.003,0.003,1KG_AFR_AF,TCOF1
684303,5:149754951:G>T,NM_001135243.1:c.1538G>T,NP_001128715.1:p.Gly513Val,11/27,\N,Likely benign,\N,missense_variant,0.479,0.00011636,EVS_EA_AF,TCOF1
684304,5:149754952:C>T,NM_001135243.1:c.1539C>T,NP_001128715.1:p.Gly513=,11/27,\N,Unknown significance,\N,synonymous_variant,10.18,0.0000152416,EXAC_NFE_AF,TCOF1
684305,5:149754953:A>C,NM_001135243.1:c.1540A>C,NP_001128715.1:p.Met514Leu,11/27,\N,Likely benign,\N,missense_variant,0.019,0.000198062,EXAC_NFE_AF,TCOF1
684306,5:149754953:A>G,NM_001135243.1:c.1540A>G,NP_001128715.1:p.Met514Val,11/27,\N,Likely benign,\N,missense_variant,0.001,0.0000152355,EXAC_NFE_AF,TCOF1
684307,5:149754955:G>A,NM_001135243.1:c.1542G>A,NP_001128715.1:p.Met514Ile,11/27,\N,Likely benign,\N,missense_variant,0.002,0.000103928,EXAC_AFR_AF,TCOF1
684308,5:149754958:G>T,NM_001135243.1:c.1545G>T,NP_001128715.1:p.Gly515=,11/27,\N,Unknown significance,\N,synonymous_variant,0.998,0.000227066,EVS_AA_AF,TCOF1
684309,5:149754960:C>T,NM_001135243.1:c.1547C>T,NP_001128715.1:p.Pro516Leu,11/27,\N,Likely benign,\N,missense_variant,12.88,0.00103454,EXAC_NFE_AF,TCOF1
684310,5:149754962:T>C,NM_001135243.1:c.1549T>C,NP_001128715.1:p.Leu517=,11/27,\N,Unknown significance,\N,synonymous_variant,0.038,0.0000152133,EXAC_NFE_AF,TCOF1
684311,5:149754964:G>C,NM_001135243.1:c.1551G>C,NP_001128715.1:p.Leu517Phe,11/27,\N,Likely benign,\N,missense_variant,0.002,0.000116306,EVS_EA_AF,TCOF1
684312,5:149754965:G>A,NM_001135243.1:c.1552G>A,NP_001128715.1:p.Gly518Arg,11/27,\N,Likely benign,\N,missense_variant,13.09,0.00111607,EXAC_OTH_AF,TCOF1
684313,5:149754967:G>GA,NM_001135243.1:c.1557dup,NP_001128715.1:p.Gly520ArgfsTer30,11/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,23.6,\N,\N,TCOF1
684314,5:149754973:C>T,NM_001135243.1:c.1560C>T,NP_001128715.1:p.Gly520=,11/27,\N,Unknown significance,\N,synonymous_variant,14.05,0.0000608643,EXAC_SAS_AF,TCOF1
684315,5:149754976:C>T,NM_001135243.1:c.1563C>T,NP_001128715.1:p.Ala521=,11/27,\N,Unknown significance,\N,synonymous_variant,14.99,0.000182593,EXAC_SAS_AF,TCOF1
684316,5:149754977:G>A,NM_001135243.1:c.1564G>A,NP_001128715.1:p.Gly522Ser,11/27,\N,Likely benign,\N,missense_variant,2.126,0.000116279,EVS_EA_AF,TCOF1
684317,5:149754978:G>T,NM_001135243.1:c.1565G>T,NP_001128715.1:p.Gly522Val,11/27,\N,Likely benign,\N,missense_variant,0.086,0.000226963,EVS_AA_AF,TCOF1
684318,5:149754980:C>G,NM_001008657.2:c.1567C>G,NP_001008657.1:p.Pro523Ala,11/18,\N,Likely benign,\N,missense_variant,0.024,0.0000989315,EXAC_AFR_AF,TCOF1
684319,5:149754991:C>T,NM_001135243.1:c.1578C>T,NP_001128715.1:p.Pro526=,11/27,\N,Benign,\N,synonymous_variant,12.57,0.246098,EXAC_AFR_AF,TCOF1
684320,5:149754991:CG>C,NM_001135243.1:c.1581del,NP_001128715.1:p.Lys528ArgfsTer68,11/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,23,\N,\N,TCOF1
684321,5:149754992:G>A,NM_001135243.1:c.1579G>A,NP_001128715.1:p.Gly527Arg,11/27,\N,Likely benign,\N,missense_variant,15.46,0.0000151112,EXAC_NFE_AF,TCOF1
684322,5:149755003:G>A,NM_001135243.1:c.1590G>A,NP_001128715.1:p.Gly530=,11/27,\N,Benign,\N,synonymous_variant,5.79,0.0153247,EXAC_SAS_AF,TCOF1
684323,5:149755005:C>A,NM_001135243.1:c.1592C>A,NP_001128715.1:p.Pro531His,11/27,\N,Unknown significance,\N,missense_variant,19.46,0.0000150861,EXAC_NFE_AF,TCOF1
684324,5:149755010:A>G,NM_001135243.1:c.1597A>G,NP_001128715.1:p.Thr533Ala,11/27,\N,Likely benign,\N,missense_variant,6.836,0.0000150802,EXAC_NFE_AF,TCOF1
684325,5:149755011:C>T,NM_001135243.1:c.1598C>T,NP_001128715.1:p.Thr533Ile,11/27,\N,Likely benign,\N,missense_variant,23,0.000116279,EVS_EA_AF,TCOF1
684326,5:149755020:C>G,NM_001135243.1:c.1607C>G,NP_001128715.1:p.Ala536Gly,11/27,\N,Likely benign,\N,missense_variant,12.11,0.000226963,EVS_AA_AF,TCOF1
684327,5:149755022:C>T,NM_001135243.1:c.1609C>T,NP_001128715.1:p.Gln537Ter,11/27,\N,Pathogenic,Treacher-Collins syndrome,stop_gained,34,\N,\N,TCOF1
684328,5:149755023:A>G,NM_000356.3:c.1379A>G,NP_000347.2:p.Gln460Arg,10/26,\N,Unknown significance,\N,missense_variant,0.01,0.0000150748,EXAC_NFE_AF,TCOF1
684329,5:149755037:G>A,NM_001135243.1:c.1624G>A,NP_001128715.1:p.Glu542Lys,11/27,\N,Likely benign,\N,missense_variant,3.904,0.000115607,EXAC_EAS_AF,TCOF1
684330,5:149755039:G>A,NM_001135243.1:c.1626G>A,NP_001128715.1:p.Glu542=,11/27,\N,Unknown significance,\N,synonymous_variant,3.745,0.000182083,EXAC_SAS_AF,TCOF1
684331,5:149755042:G>A,NM_001135243.1:c.1629G>A,NP_001128715.1:p.Glu543=,11/27,\N,Unknown significance,\N,synonymous_variant,3.873,0.0000150512,EXAC_NFE_AF,TCOF1
684332,5:149755042:G>C,NM_001135243.1:c.1629G>C,NP_001128715.1:p.Glu543Asp,11/27,\N,Likely benign,\N,missense_variant,0.123,0.000348837,EVS_EA_AF,TCOF1
684333,5:149755047:CAG>C,NM_001135243.1:c.1639_1640del,NP_001128715.1:p.Ser547GlnfsTer2,11/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,24.4,\N,\N,TCOF1
684334,5:149755047:CAGAG>C,NM_001135243.1:c.1637_1640del,NP_001128715.1:p.Glu546AlafsTer49,11/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,24.5,\N,\N,TCOF1
684335,5:149755048:A>C,NM_001135243.1:c.1635A>C,NP_001128715.1:p.Ser545=,11/27,\N,Unknown significance,\N,synonymous_variant,0.061,0.0000150507,EXAC_NFE_AF,TCOF1
684336,5:149755049:G>C,NM_001135244.1:c.1636G>C,NP_001128716.1:p.Glu546Gln,11/26,\N,Likely benign,\N,missense_variant,7.32,0.000226963,EVS_AA_AF,TCOF1
684337,5:149755056:G>C,NM_000356.3:c.1412G>C,NP_000347.2:p.Ser471Thr,10/26,\N,Likely benign,\N,missense_variant,22.4,0.0000150485,EXAC_NFE_AF,TCOF1
684338,5:149755064:G>A,NM_000356.3:c.1420G>A,NP_000347.2:p.Glu474Lys,10/26,\N,Likely benign,\N,missense_variant,10.77,0.0000606208,EXAC_SAS_AF,TCOF1
684339,5:149755066:G>A,NM_001135243.1:c.1653G>A,NP_001128715.1:p.Glu551=,11/27,\N,Unknown significance,\N,synonymous_variant,6.039,0.000226963,EVS_AA_AF,TCOF1
684340,5:149755069:A>C,NM_001135243.1:c.1656A>C,NP_001128715.1:p.Ser552=,11/27,\N,Unknown significance,\N,synonymous_variant,0.728,0.0000606061,EXAC_SAS_AF,TCOF1
684341,5:149755069:A>G,NM_001135243.1:c.1656A>G,NP_001128715.1:p.Ser552=,11/27,\N,Unknown significance,\N,synonymous_variant,6.774,0.0000451535,EXAC_NFE_AF,TCOF1
684342,5:149755071:C>G,NM_001135243.1:c.1658C>G,NP_001128715.1:p.Ser553Ter,11/27,\N,Pathogenic,Treacher-Collins syndrome,stop_gained,29.2,\N,\N,TCOF1
684343,5:149755078:C>T,NM_001135243.1:c.1665C>T,NP_001128715.1:p.Ser555=,11/27,\N,Unknown significance,\N,synonymous_variant,8.733,0.0000602319,EXAC_NFE_AF,TCOF1
684344,5:149755081:T>C,NM_001135243.1:c.1668T>C,NP_001128715.1:p.Ser556=,11/27,\N,Unknown significance,\N,synonymous_variant,1.694,\N,\N,TCOF1
684345,5:149755084:T>C,NM_001135243.1:c.1671T>C,NP_001128715.1:p.Asp557=,11/27,\N,Benign,\N,synonymous_variant,1.542,0.00795837,EXAC_FIN_AF,TCOF1
684346,5:149755084:T>TGG,NM_001135243.1:c.1672_1673dup,NP_001128715.1:p.Val560ArgfsTer37,11/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,25.3,\N,\N,TCOF1
684347,5:149755094:C>G,NM_001135243.1:c.1681C>G,NP_001128715.1:p.Pro561Ala,11/27,\N,Likely benign,\N,missense_variant,8.232,0.000135743,EXAC_NFE_AF,TCOF1
684348,5:149755100:G>A,NM_001135243.1:c.1687G>A,NP_001128715.1:p.Ala563Thr,11/27,\N,Likely benign,\N,missense_variant,10.19,\N,\N,TCOF1
684349,5:149755106:G>T,NM_001135243.1:c.1693G>T,NP_001128715.1:p.Ala565Ser,11/27,\N,Likely benign,\N,missense_variant,4.925,0.0000151098,EXAC_NFE_AF,TCOF1
684350,5:149755108:C>T,NM_001135243.1:c.1695C>T,NP_001128715.1:p.Ala565=,11/27,\N,Unknown significance,\N,synonymous_variant,15.84,0.000116225,EXAC_EAS_AF,TCOF1
684351,5:149755110:C>T,NM_001135243.1:c.1697C>T,NP_001128715.1:p.Pro566Leu,11/27,\N,Unknown significance,\N,missense_variant,16.43,0.000116198,EXAC_EAS_AF,TCOF1
684352,5:149755111:G>A,NM_001135243.1:c.1698G>A,NP_001128715.1:p.Pro566=,11/27,\N,Unknown significance,\N,synonymous_variant,12.37,0.00048506,EXAC_AFR_AF,TCOF1
684353,5:149755115:C>T,NM_001135243.1:c.1702C>T,NP_001128715.1:p.Gln568Ter,11/27,\N,Pathogenic,Treacher-Collins syndrome,stop_gained&splice_region_variant,35,\N,\N,TCOF1
684354,5:149755126:C>T,NM_001135243.1:c.1704+9C>T,\N,\N,11/26,Unknown significance,\N,intron_variant,11.91,0.0000909146,EXAC_NFE_AF,TCOF1
684355,5:149755133:G>A,NM_001135243.1:c.1704+16G>A,\N,\N,11/26,Unknown significance,\N,intron_variant,8.65,0.00379451,EXAC_AFR_AF,TCOF1
684356,5:149755138:GCT>G,NM_001135243.1:c.1704+24_1704+25del,\N,\N,11/26,Unknown significance,\N,intron_variant,8.049,0.0000303269,EXAC_NFE_AF,TCOF1
684357,5:149755138:G>C,NM_001135243.1:c.1704+21G>C,\N,\N,11/26,Unknown significance,\N,intron_variant,3.627,0.0000454904,EXAC_NFE_AF,TCOF1
684358,5:149755140:T>C,NM_001135243.1:c.1704+23T>C,\N,\N,11/26,Unknown significance,\N,intron_variant,6.828,0.000242277,EXAC_SAS_AF,TCOF1
684359,5:149755141:C>CT,NM_001135243.1:c.1704+27dup,\N,\N,11/26,Unknown significance,\N,intron_variant,6.176,0.0000605987,EXAC_SAS_AF,TCOF1
684360,5:149755144:T>C,NM_001135243.1:c.1704+27T>C,\N,\N,11/26,Unknown significance,\N,intron_variant,1.975,0.0000151552,EXAC_NFE_AF,TCOF1
684361,5:149755145:C>A,NM_001135243.1:c.1704+28C>A,\N,\N,11/26,Unknown significance,\N,intron_variant,0.632,0.0000868659,EXAC_AMR_AF,TCOF1
684362,5:149755145:CT>C,NM_001135243.1:c.1704+33del,\N,\N,11/26,Unknown significance,\N,intron_variant,0.156,0.0000151699,EXAC_NFE_AF,TCOF1
684363,5:149755148:T>C,NM_001135243.1:c.1704+31T>C,\N,\N,11/26,Unknown significance,\N,intron_variant,0.137,0.0000303058,EXAC_NFE_AF,TCOF1
684364,5:149755149:T>C,NM_001135243.1:c.1704+32T>C,\N,\N,11/26,Unknown significance,\N,intron_variant,1.349,0.0000151529,EXAC_NFE_AF,TCOF1
684365,5:149755150:T>C,NM_001135243.1:c.1704+33T>C,\N,\N,11/26,Unknown significance,\N,intron_variant,1.987,0.0000990688,EXAC_AFR_AF,TCOF1
684366,5:149755150:T>TC,NM_001135243.1:c.1704+40dup,\N,\N,11/26,Unknown significance,\N,intron_variant,0.794,0.0014476,EXAC_NFE_AF,TCOF1
684367,5:149755150:TCC>T,NM_001135243.1:c.1704+39_1704+40del,\N,\N,11/26,Benign,\N,intron_variant,2.022,0.0122845,EXAC_AFR_AF,TCOF1
684368,5:149755151:C>A,NM_001135243.1:c.1704+34C>A,\N,\N,11/26,Unknown significance,\N,intron_variant,0.954,0.00112108,EXAC_OTH_AF,TCOF1
684369,5:149755154:C>G,NM_001135243.1:c.1704+37C>G,\N,\N,11/26,Unknown significance,\N,intron_variant,1.755,0.0000151355,EXAC_NFE_AF,TCOF1
684370,5:149755154:C>T,NM_001135243.1:c.1704+37C>T,\N,\N,11/26,Unknown significance,\N,intron_variant,3.23,0.0000605767,EXAC_SAS_AF,TCOF1
684371,5:149755155:C>A,NM_001135243.1:c.1704+38C>A,\N,\N,11/26,Unknown significance,\N,intron_variant,3.743,0.0008,1KG_AFR_AF,TCOF1
684372,5:149755156:C>G,NM_001135243.1:c.1704+39C>G,\N,\N,11/26,Unknown significance,\N,intron_variant,2.28,0.0000979816,EXAC_AFR_AF,TCOF1
684373,5:149755157:C>A,NM_001135243.1:c.1704+40C>A,\N,\N,11/26,Unknown significance,\N,intron_variant,3.615,0.00011636,EXAC_EAS_AF,TCOF1
684374,5:149755157:CACTCAGAGTGG>C,NM_001135243.1:c.1704+42_1704+52del,\N,\N,11/26,Unknown significance,\N,intron_variant,4.576,0.0000453597,EXAC_NFE_AF,TCOF1
684375,5:149755157:C>G,NM_001135243.1:c.1704+40C>G,\N,\N,11/26,Unknown significance,\N,intron_variant,2.046,0.000930882,EXAC_EAS_AF,TCOF1
684376,5:149755158:A>G,NM_001135243.1:c.1704+41A>G,\N,\N,11/26,Unknown significance,\N,intron_variant,3.237,0.002,1KG_SAS_AF,TCOF1
684377,5:149755159:C>A,NM_001135243.1:c.1704+42C>A,\N,\N,11/26,Unknown significance,\N,intron_variant,4.004,0.000196078,EXAC_AFR_AF,TCOF1
684378,5:149755159:C>T,NM_001135243.1:c.1704+42C>T,\N,\N,11/26,Unknown significance,\N,intron_variant,3.988,0.000060562,EXAC_SAS_AF,TCOF1
684379,5:149755163:G>A,NM_001135243.1:c.1704+46G>A,\N,\N,11/26,Unknown significance,\N,intron_variant,4.036,0.000227066,EVS_AA_AF,TCOF1
684380,5:149755165:G>A,NM_001135243.1:c.1704+48G>A,\N,\N,11/26,Unknown significance,\N,intron_variant,1.541,0.000181686,EXAC_SAS_AF,TCOF1
684381,5:149755182:C>T,NM_001135243.1:c.1704+65C>T,\N,\N,11/26,Unknown significance,\N,intron_variant,7.216,0.002,1KG_SAS_AF,TCOF1
684382,5:149755185:C>T,NM_001135243.1:c.1704+68C>T,\N,\N,11/26,Benign,\N,intron_variant,6.212,0.007,1KG_EUR_AF,TCOF1
684383,5:149755194:C>T,NM_001135243.1:c.1704+77C>T,\N,\N,11/26,Benign,\N,intron_variant,8.161,0.0151,1KG_AFR_AF,TCOF1
684384,5:149755204:C>G,NM_001135243.1:c.1705-80C>G,\N,\N,11/26,Unknown significance,\N,intron_variant,6.711,\N,\N,TCOF1
684385,5:149755204:CTG>C,NM_001135243.1:c.1705-78_1705-77del,\N,\N,11/26,Unknown significance,\N,intron_variant,\N,\N,\N,TCOF1
684386,5:149755218:A>C,NM_001135243.1:c.1705-66A>C,\N,\N,11/26,Unknown significance,\N,intron_variant,1.092,0.001,1KG_SAS_AF,TCOF1
684387,5:149755234:C>T,NM_001135243.1:c.1705-50C>T,\N,\N,11/26,Unknown significance,\N,intron_variant,2.963,0.00209243,EXAC_NFE_AF,TCOF1
684388,5:149755239:A>T,NM_001135243.1:c.1705-45A>T,\N,\N,11/26,Unknown significance,\N,intron_variant,3.889,0.0000863707,EXAC_AMR_AF,TCOF1
684389,5:149755242:T>C,NM_001135243.1:c.1705-42T>C,\N,\N,11/26,Unknown significance,\N,intron_variant,3.942,0.000363372,EXAC_SAS_AF,TCOF1
684390,5:149755244:C>T,NM_001135243.1:c.1705-40C>T,\N,\N,11/26,Unknown significance,\N,intron_variant,7.324,0.0000150602,EXAC_NFE_AF,TCOF1
684391,5:149755248:G>A,NM_001135243.1:c.1705-36G>A,\N,\N,11/26,Unknown significance,\N,intron_variant,5.337,\N,\N,TCOF1
684392,5:149755255:C>G,NM_001135243.1:c.1705-29C>G,\N,\N,11/26,Unknown significance,\N,intron_variant,2.712,0.000227066,EVS_AA_AF,TCOF1
684393,5:149755261:C>T,NM_001135243.1:c.1705-23C>T,\N,\N,11/26,Unknown significance,\N,intron_variant,4.894,0.000115554,EXAC_EAS_AF,TCOF1
684394,5:149755262:G>A,NM_001135243.1:c.1705-22G>A,\N,\N,11/26,Unknown significance,\N,intron_variant,4.061,0.0000301268,EXAC_NFE_AF,TCOF1
684395,5:149755263:A>G,NM_001135243.1:c.1705-21A>G,\N,\N,11/26,Unknown significance,\N,intron_variant,7.78,0.0017333,EXAC_EAS_AF,TCOF1
684396,5:149755273:TCTCA>T,NM_001135243.1:c.1705-7_1705-4del,\N,\N,11/26,Unknown significance,\N,splice_region_variant&intron_variant,\N,\N,\N,TCOF1
684397,5:149755284:G>A,NM_001135243.1:c.1705G>A,NP_001128715.1:p.Glu569Lys,12/27,\N,Unknown significance,\N,missense_variant&splice_region_variant,24.2,0.000060562,EXAC_SAS_AF,TCOF1
684398,5:149755286:A>G,NM_001135243.1:c.1707A>G,NP_001128715.1:p.Glu569=,12/27,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,2.576,0.0000150616,EXAC_NFE_AF,TCOF1
684399,5:149755287:A>G,NM_001135243.1:c.1708A>G,NP_001128715.1:p.Lys570Glu,12/27,\N,Unknown significance,\N,missense_variant,19.62,0.0000987947,EXAC_AFR_AF,TCOF1
684400,5:149755293:T>C,NM_001135243.1:c.1714T>C,NP_001128715.1:p.Leu572=,12/27,\N,Unknown significance,\N,synonymous_variant,0.148,0.0031,1KG_SAS_AF,TCOF1
684401,5:149755302:A>G,NM_001135243.1:c.1723A>G,NP_001128715.1:p.Ile575Val,12/27,\N,Likely benign,\N,missense_variant,0.001,0.003,1KG_AFR_AF,TCOF1
684402,5:149755307:C>G,NM_001135243.1:c.1728C>G,NP_001128715.1:p.Leu576=,12/27,\N,Unknown significance,\N,synonymous_variant,7.629,0.000060562,EXAC_SAS_AF,TCOF1
684403,5:149755308:C>T,NM_001135243.1:c.1729C>T,NP_001128715.1:p.Gln577Ter,12/27,\N,Pathogenic,Treacher-Collins syndrome,stop_gained,35,\N,\N,TCOF1
684404,5:149755320:A>C,NM_001135243.1:c.1741A>C,NP_001128715.1:p.Thr581Pro,12/27,\N,Likely benign,\N,missense_variant,13.68,0.0000150498,EXAC_NFE_AF,TCOF1
684405,5:149755322:C>T,NM_001135243.1:c.1743C>T,NP_001128715.1:p.Thr581=,12/27,\N,Unknown significance,\N,synonymous_variant,9.446,0.000151194,EXAC_FIN_AF,TCOF1
684406,5:149755327:G>A,NM_000356.3:c.1517G>A,NP_000347.2:p.Ser506Asn,11/26,\N,Likely benign,\N,missense_variant,0.091,0.0000863856,EXAC_AMR_AF,TCOF1
684407,5:149755327:G>C,NM_001135243.1:c.1748G>C,NP_001128715.1:p.Ser583Thr,12/27,\N,Likely benign,\N,missense_variant,0.002,0.00121124,EXAC_SAS_AF,TCOF1
684408,5:149755328:T>C,NM_001135243.1:c.1749T>C,NP_001128715.1:p.Ser583=,12/27,\N,Unknown significance,\N,synonymous_variant,0.611,0.0000966931,EXAC_AFR_AF,TCOF1
684409,5:149755330:C>G,NM_000356.3:c.1520C>G,NP_000347.2:p.Pro507Arg,11/26,\N,Unknown significance,\N,missense_variant,19.74,0.000115554,EXAC_EAS_AF,TCOF1
684410,5:149755340:G>T,NM_001135243.1:c.1761G>T,NP_001128715.1:p.Gly587=,12/27,\N,Benign,\N,synonymous_variant,1.54,0.148434,EVS_AA_AF,TCOF1
684411,5:149755342:C>T,NM_001135243.1:c.1763C>T,NP_001128715.1:p.Pro588Leu,12/27,\N,Unknown significance,\N,missense_variant,23,0.000060562,EXAC_SAS_AF,TCOF1
684412,5:149755344:C>T,NM_001135243.1:c.1765C>T,NP_001128715.1:p.Pro589Ser,12/27,\N,Likely benign,\N,missense_variant,22.3,0.0000150308,EXAC_NFE_AF,TCOF1
684413,5:149755345:C>G,NM_001135243.1:c.1766C>G,NP_001128715.1:p.Pro589Arg,12/27,\N,Unknown significance,\N,missense_variant,24.6,0.000060562,EXAC_SAS_AF,TCOF1
684414,5:149755345:C>T,NM_001135243.1:c.1766C>T,NP_001128715.1:p.Pro589Leu,12/27,\N,Unknown significance,\N,missense_variant,26,0.000060562,EXAC_SAS_AF,TCOF1
684415,5:149755357:GGCCTGTA>G,NM_001135243.1:c.1782_1788del,NP_001128715.1:p.Val595SerfsTer31,12/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,29.9,\N,\N,TCOF1
684416,5:149755359:C>T,NM_001135243.1:c.1780C>T,NP_001128715.1:p.Pro594Ser,12/27,\N,Likely benign,\N,missense_variant,23.1,0.0000864006,EXAC_AMR_AF,TCOF1
684417,5:149755361:TG>T,NM_001135243.1:c.1783del,NP_001128715.1:p.Val595Ter,12/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,25.6,\N,\N,TCOF1
684418,5:149755362:G>A,NM_001135243.1:c.1783G>A,NP_001128715.1:p.Val595Ile,12/27,\N,Benign,\N,missense_variant,22.7,0.0151194,EXAC_FIN_AF,TCOF1
684419,5:149755367:C>T,NM_001135243.1:c.1788C>T,NP_001128715.1:p.Ala596=,12/27,\N,Unknown significance,\N,synonymous_variant,19.06,0.000172801,EXAC_AMR_AF,TCOF1
684420,5:149755368:G>A,NM_001135243.1:c.1789G>A,NP_001128715.1:p.Val597Ile,12/27,\N,Likely benign,\N,missense_variant,6.003,0.00068089,EVS_AA_AF,TCOF1
684421,5:149755368:G>T,NM_001135243.1:c.1789G>T,NP_001128715.1:p.Val597Phe,12/27,\N,Benign,\N,missense_variant,13.56,0.0051,1KG_SAS_AF,TCOF1
684422,5:149755368:GTCCA>G,NM_001135243.1:c.1790_1793del,NP_001128715.1:p.Val597GlyfsTer30,12/27,\N,Unknown significance,\N,frameshift_variant,29.6,0.0000300183,EXAC_NFE_AF,TCOF1
684423,5:149755368:GTCCAGGTCAAGGCT>G,NM_001135243.1:c.1790_1803del,NP_001128715.1:p.Val597GlyfsTer20,12/27,\N,Unknown significance,\N,frameshift_variant,\N,0.0015,1KG_AFR_AF,TCOF1
684424,5:149755370:C>G,NM_001135243.1:c.1791C>G,NP_001128715.1:p.Val597=,12/27,\N,Unknown significance,\N,synonymous_variant,12.29,0.0000605694,EXAC_SAS_AF,TCOF1
684425,5:149755370:C>T,NM_001135243.1:c.1791C>T,NP_001128715.1:p.Val597=,12/27,\N,Unknown significance,\N,synonymous_variant,15.12,0.000226963,EVS_AA_AF,TCOF1
684426,5:149755373:GGTCAAGGCTGA>G,NM_001135243.1:c.1795_1805del,NP_001128715.1:p.Val599LysfsTer19,12/27,\N,Unknown significance,\N,frameshift_variant,33,\N,\N,TCOF1
684427,5:149755375:T>C,NM_001135243.1:c.1796T>C,NP_001128715.1:p.Val599Ala,12/27,\N,Pathogenic,Treacher-Collins syndrome,missense_variant,19.71,\N,\N,TCOF1
684428,5:149755378:A>G,NM_001135243.1:c.1799A>G,NP_001128715.1:p.Lys600Arg,12/27,\N,Unknown significance,\N,missense_variant,25.5,0.000270092,EXAC_NFE_AF,TCOF1
684429,5:149755391:CAT>C,NM_001135243.1:c.1813_1814del,NP_001128715.1:p.Met605GlyfsTer16,12/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,24.8,\N,\N,TCOF1
684430,5:149755392:A>G,NM_001135243.1:c.1813A>G,NP_001128715.1:p.Met605Val,12/27,\N,Likely benign,\N,missense_variant,0.58,0.000226963,EVS_AA_AF,TCOF1
684431,5:149755393:T>A,NM_001135243.1:c.1814T>A,NP_001128715.1:p.Met605Lys,12/27,\N,Likely benign,\N,missense_variant,0.006,0.0000961908,EXAC_AFR_AF,TCOF1
684432,5:149755393:T>C,NM_001135243.1:c.1814T>C,NP_001128715.1:p.Met605Thr,12/27,\N,Likely benign,\N,missense_variant,0.002,0.000116279,EVS_EA_AF,TCOF1
684433,5:149755399:A>G,NM_001135243.1:c.1820A>G,NP_001128715.1:p.Asn607Ser,12/27,\N,Likely benign,\N,missense_variant,0.109,\N,\N,TCOF1
684434,5:149755402:C>T,NM_000356.3:c.1592C>T,NP_000347.2:p.Ser531Leu,11/26,\N,Unknown significance,\N,missense_variant,25.5,0.0000150056,EXAC_NFE_AF,TCOF1
684435,5:149755403:G>A,NM_001135243.1:c.1824G>A,NP_001128715.1:p.Ser608=,12/27,\N,Unknown significance,\N,synonymous_variant,10.61,\N,\N,TCOF1
684436,5:149755403:G>C,NM_001135243.1:c.1824G>C,NP_001128715.1:p.Ser608=,12/27,\N,Unknown significance,\N,synonymous_variant,6.245,0.000015006,EXAC_NFE_AF,TCOF1
684437,5:149755414:AG>A,NM_001135243.1:c.1837del,NP_001128715.1:p.Glu613SerfsTer15,12/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,23.6,\N,\N,TCOF1
684438,5:149755420:CATCGGACA>C,NM_001135243.1:c.1842_1849del,NP_001128715.1:p.Ser615CysfsTer4,12/27,\N,Unknown significance,\N,frameshift_variant,34,0.0000150087,EXAC_NFE_AF,TCOF1
684439,5:149755421:A>G,NM_001135243.1:c.1842A>G,NP_001128715.1:p.Ser614=,12/27,\N,Benign,\N,synonymous_variant,6.875,0.257996,EXAC_AFR_AF,TCOF1
684440,5:149755422:T>C,NM_001135243.1:c.1843T>C,NP_001128715.1:p.Ser615Pro,12/27,\N,Unknown significance,\N,missense_variant,19.38,0.0000150083,EXAC_NFE_AF,TCOF1
684441,5:149755423:C>T,NM_001135243.1:c.1844C>T,NP_001128715.1:p.Ser615Leu,12/27,\N,Unknown significance,\N,missense_variant,23.6,0.00111111,EXAC_OTH_AF,TCOF1
684442,5:149755424:G>A,NM_001135243.1:c.1845G>A,NP_001128715.1:p.Ser615=,12/27,\N,Unknown significance,\N,synonymous_variant,10.51,0.0014,1KG_AMR_AF,TCOF1
684443,5:149755427:C>G,NM_001135243.1:c.1848C>G,NP_001128715.1:p.Asp616Glu,12/27,\N,Likely benign,\N,missense_variant,14.09,0.0000300246,EXAC_NFE_AF,TCOF1
684444,5:149755427:C>T,NM_001135243.1:c.1848C>T,NP_001128715.1:p.Asp616=,12/27,\N,Unknown significance,\N,synonymous_variant,10.74,0.0000864155,EXAC_AMR_AF,TCOF1
684445,5:149755430:TG>T,NM_001135243.1:c.1852del,NP_001128715.1:p.Ala618ArgfsTer10,12/27,\N,Unknown significance,\N,frameshift_variant,34,\N,\N,TCOF1
684446,5:149755432:C>T,NM_001135243.1:c.1853C>T,NP_001128715.1:p.Ala618Val,12/27,\N,Unknown significance,\N,missense_variant,23.9,0.0000864155,EXAC_AMR_AF,TCOF1
684447,5:149755433:G>A,NM_001135243.1:c.1854G>A,NP_001128715.1:p.Ala618=,12/27,\N,Likely benign,Treacher collins syndrome 1,synonymous_variant,13.59,0.000150186,EXAC_NFE_AF,TCOF1
684448,5:149755434:G>T,NM_001135243.1:c.1855G>T,NP_001128715.1:p.Asp619Tyr,12/27,\N,Unknown significance,\N,missense_variant,24.1,0.000115607,EXAC_EAS_AF,TCOF1
684449,5:149755443:G>A,NM_001135243.1:c.1864G>A,NP_001128715.1:p.Glu622Lys,12/27,\N,Unknown significance,\N,missense_variant,17.29,0.0045,1KG_AFR_AF,TCOF1
684450,5:149755446:G>A,NM_001135243.1:c.1867G>A,NP_001128715.1:p.Ala623Thr,12/27,\N,Likely benign,\N,missense_variant,5.41,0.00333333,EXAC_OTH_AF,TCOF1
684451,5:149755447:C>T,NM_001008657.2:c.1868C>T,NP_001008657.1:p.Ala623Val,12/18,\N,Likely benign,\N,missense_variant,12.87,0.0000301023,EXAC_NFE_AF,TCOF1
684452,5:149755449:C>G,NM_001135243.1:c.1870C>G,NP_001128715.1:p.Pro624Ala,12/27,\N,Likely benign,\N,missense_variant,11.52,0.0000150457,EXAC_NFE_AF,TCOF1
684453,5:149755450:C>T,NM_001135243.1:c.1871C>T,NP_001128715.1:p.Pro624Leu,12/27,\N,Unknown significance,\N,missense_variant,24,0.0000864902,EXAC_AMR_AF,TCOF1
684454,5:149755452:G>C,NM_001135243.1:c.1873G>C,NP_001128715.1:p.Ala625Pro,12/27,\N,Likely benign,\N,missense_variant,23.3,\N,\N,TCOF1
684455,5:149755456:C>T,NM_001135243.1:c.1877C>T,NP_001128715.1:p.Ala626Val,12/27,\N,Likely benign,\N,missense_variant,22.8,0.000116279,EVS_EA_AF,TCOF1
684456,5:149755458:A>G,NM_001135243.1:c.1879A>G,NP_001128715.1:p.Met627Val,12/27,\N,Likely benign,\N,missense_variant,0.003,0.0000968054,EXAC_AFR_AF,TCOF1
684457,5:149755459:T>C,NM_001135243.1:c.1880T>C,NP_001128715.1:p.Met627Thr,12/27,\N,Likely benign,\N,missense_variant,0.002,0.0000300643,EXAC_NFE_AF,TCOF1
684458,5:149755461:A>C,NM_001008657.2:c.1882A>C,NP_001008657.1:p.Thr628Pro,12/18,\N,Likely benign,\N,missense_variant,15.29,0.00030248,EXAC_FIN_AF,TCOF1
684459,5:149755465:C>T,NM_001135243.1:c.1886C>T,NP_001128715.1:p.Ala629Val,12/27,\N,Likely benign,\N,missense_variant,23.7,\N,\N,TCOF1
684460,5:149755471:A>G,NM_001135243.1:c.1892A>G,NP_001128715.1:p.Gln631Arg,12/27,\N,Unknown significance,\N,missense_variant&splice_region_variant,24.1,0.000060116,EXAC_NFE_AF,TCOF1
684461,5:149755477:G>T,NM_001135243.1:c.1893+5G>T,\N,\N,12/26,Unknown significance,\N,splice_region_variant&intron_variant,13.39,0.000121139,EXAC_SAS_AF,TCOF1
684462,5:149755482:G>A,NM_001135243.1:c.1893+10G>A,\N,\N,12/26,Unknown significance,\N,intron_variant,13.64,0.0000966931,EXAC_AFR_AF,TCOF1
684463,5:149755484:G>A,NM_001135243.1:c.1893+12G>A,\N,\N,12/26,Unknown significance,\N,intron_variant,11.44,0.0000150322,EXAC_NFE_AF,TCOF1
684464,5:149755490:A>C,NM_001135243.1:c.1893+18A>C,\N,\N,12/26,Unknown significance,\N,intron_variant,10.53,0.000015034,EXAC_NFE_AF,TCOF1
684465,5:149755493:C>G,NM_001135243.1:c.1893+21C>G,\N,\N,12/26,Unknown significance,\N,intron_variant,11.99,0.000289743,EXAC_AFR_AF,TCOF1
684466,5:149755493:C>T,NM_001135243.1:c.1893+21C>T,\N,\N,12/26,Unknown significance,\N,intron_variant,12.45,0.0000902147,EXAC_NFE_AF,TCOF1
684467,5:149755497:T>C,NM_001135243.1:c.1893+25T>C,\N,\N,12/26,Unknown significance,\N,intron_variant,6.362,0.0000150349,EXAC_NFE_AF,TCOF1
684468,5:149755499:C>T,NM_001135243.1:c.1893+27C>T,\N,\N,12/26,Unknown significance,\N,intron_variant,6.871,0.00017304,EXAC_AMR_AF,TCOF1
684469,5:149755500:A>G,NM_001135243.1:c.1893+28A>G,\N,\N,12/26,Unknown significance,\N,intron_variant,3.359,0.000116279,EVS_EA_AF,TCOF1
684470,5:149755507:G>A,NM_001135243.1:c.1893+35G>A,\N,\N,12/26,Unknown significance,\N,intron_variant,1.737,0.0000605767,EXAC_SAS_AF,TCOF1
684471,5:149755516:C>T,NM_001135243.1:c.1893+44C>T,\N,\N,12/26,Unknown significance,\N,intron_variant,3.564,0.000116279,EVS_EA_AF,TCOF1
684472,5:149755517:A>G,NM_001135243.1:c.1893+45A>G,\N,\N,12/26,Unknown significance,\N,intron_variant,3.462,0.000363504,EXAC_SAS_AF,TCOF1
684473,5:149755535:G>A,NM_001135243.1:c.1893+63G>A,\N,\N,12/26,Unknown significance,\N,intron_variant,1.348,0.0008,1KG_AFR_AF,TCOF1
684474,5:149755569:T>C,NM_001135243.1:c.1894-76T>C,\N,\N,12/26,Unknown significance,\N,intron_variant,3.534,\N,\N,TCOF1
684475,5:149755594:G>A,NM_001135243.1:c.1894-51G>A,\N,\N,12/26,Unknown significance,\N,intron_variant,3.238,\N,\N,TCOF1
684476,5:149755595:G>A,NM_001135243.1:c.1894-50G>A,\N,\N,12/26,Unknown significance,\N,intron_variant,2.185,0.0000150159,EXAC_NFE_AF,TCOF1
684477,5:149755600:C>CT,NM_001135243.1:c.1894-44dup,\N,\N,12/26,Unknown significance,\N,intron_variant,4.679,0.0000150155,EXAC_NFE_AF,TCOF1
684478,5:149755600:C>T,NM_001135243.1:c.1894-45C>T,\N,\N,12/26,Unknown significance,\N,intron_variant,4.949,0.0000864454,EXAC_AMR_AF,TCOF1
684479,5:149755610:G>A,NM_001135243.1:c.1894-35G>A,\N,\N,12/26,Unknown significance,\N,intron_variant,4.743,0.0000150159,EXAC_NFE_AF,TCOF1
684480,5:149755617:C>T,NM_001135243.1:c.1894-28C>T,\N,\N,12/26,Unknown significance,\N,intron_variant,10.36,0.0000150137,EXAC_NFE_AF,TCOF1
684481,5:149755630:T>C,NM_001135243.1:c.1894-15T>C,\N,\N,12/26,Unknown significance,\N,intron_variant,12.28,0.0000150123,EXAC_NFE_AF,TCOF1
684482,5:149755639:C>A,NM_001135243.1:c.1894-6C>A,\N,\N,12/26,Unknown significance,\N,splice_region_variant&intron_variant,16.39,0.0000963948,EXAC_AFR_AF,TCOF1
684483,5:149755639:C>G,NM_001135243.1:c.1894-6C>G,\N,\N,12/26,Unknown significance,\N,splice_region_variant&intron_variant,14.28,\N,\N,TCOF1
684484,5:149755652:C>T,NM_001135243.1:c.1901C>T,NP_001128715.1:p.Pro634Leu,13/27,\N,Likely benign,\N,missense_variant,25,0.0000864155,EXAC_AMR_AF,TCOF1
684485,5:149755657:CT>C,NM_001135243.1:c.1907del,NP_001128715.1:p.Leu636ArgfsTer75,13/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,27.4,\N,\N,TCOF1
684486,5:149755659:G>A,NM_001135243.1:c.1908G>A,NP_001128715.1:p.Leu636=,13/27,\N,Unknown significance,\N,synonymous_variant,13.37,0.0000750435,EXAC_NFE_AF,TCOF1
684487,5:149755669:C>T,NM_001135243.1:c.1918C>T,NP_001128715.1:p.Gln640Ter,13/27,\N,Pathogenic,Treacher-Collins syndrome,stop_gained,38,\N,\N,TCOF1
684488,5:149755671:G>A,NM_001135243.1:c.1920G>A,NP_001128715.1:p.Gln640=,13/27,\N,Unknown significance,\N,synonymous_variant,12.07,0.0000962464,EXAC_AFR_AF,TCOF1
684489,5:149755673:C>T,NM_001135243.1:c.1922C>T,NP_001128715.1:p.Thr641Ile,13/27,\N,Likely benign,\N,missense_variant,24.2,0.0000605914,EXAC_SAS_AF,TCOF1
684490,5:149755674:C>T,NM_001135243.1:c.1923C>T,NP_001128715.1:p.Thr641=,13/27,\N,Unknown significance,\N,synonymous_variant,14.93,0.0000150132,EXAC_NFE_AF,TCOF1
684491,5:149755675:A>G,NM_001135243.1:c.1924A>G,NP_001128715.1:p.Lys642Glu,13/27,\N,Unknown significance,\N,missense_variant,24.3,0.0000150132,EXAC_NFE_AF,TCOF1
684492,5:149755678:G>T,NM_001135243.1:c.1927G>T,NP_001128715.1:p.Ala643Ser,13/27,\N,Unknown significance,\N,missense_variant,22.8,0.0000150137,EXAC_NFE_AF,TCOF1
684493,5:149755682:G>C,NM_001135243.1:c.1931G>C,NP_001128715.1:p.Cys644Ser,13/27,\N,Likely benign,\N,missense_variant,5.389,0.000151194,EXAC_FIN_AF,TCOF1
684494,5:149755686:A>C,NM_001135243.1:c.1935A>C,NP_001128715.1:p.Pro645=,13/27,\N,Unknown significance,\N,synonymous_variant,1.582,0.0000605914,EXAC_SAS_AF,TCOF1
684495,5:149755688:A>G,NM_001135243.1:c.1937A>G,NP_001128715.1:p.Lys646Arg,13/27,\N,Likely benign,\N,missense_variant,14.82,0.0000605987,EXAC_SAS_AF,TCOF1
684496,5:149755689:G>A,NM_001135243.1:c.1938G>A,NP_001128715.1:p.Lys646=,13/27,\N,Unknown significance,\N,synonymous_variant,12.31,0.0000300391,EXAC_NFE_AF,TCOF1
684497,5:149755700:CCACTG>C,NM_001135243.1:c.1952_1956del,NP_001128715.1:p.Thr651IlefsTer45,13/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,25.2,\N,\N,TCOF1
684498,5:149755704:T>C,NM_001135243.1:c.1953T>C,NP_001128715.1:p.Thr651=,13/27,\N,Likely benign,Treacher collins syndrome 1,synonymous_variant,0.852,\N,\N,TCOF1
684499,5:149755707:A>G,NM_001135243.1:c.1956A>G,NP_001128715.1:p.Ala652=,13/27,\N,Unknown significance,\N,synonymous_variant,6.492,0.000115607,EXAC_EAS_AF,TCOF1
684500,5:149755712:C>T,NM_001135243.1:c.1961C>T,NP_001128715.1:p.Ala654Val,13/27,\N,Unknown significance,\N,missense_variant,23.3,0.000541435,EXAC_NFE_AF,TCOF1
684501,5:149755715:A>G,NM_001135243.1:c.1964A>G,NP_001128715.1:p.Lys655Arg,13/27,\N,Likely benign,\N,missense_variant,15.77,0.0000864155,EXAC_AMR_AF,TCOF1
684502,5:149755719:C>T,NM_001135243.1:c.1968C>T,NP_001128715.1:p.Val656=,13/27,\N,Unknown significance,\N,synonymous_variant,11.69,0.000691324,EXAC_AMR_AF,TCOF1
684503,5:149755720:G>A,NM_001135243.1:c.1969G>A,NP_001128715.1:p.Ala657Thr,13/27,\N,Likely benign,\N,missense_variant,0.003,0.000907853,EVS_AA_AF,TCOF1
684504,5:149755720:G>GC,NM_001135243.1:c.1973dup,NP_001128715.1:p.Val659CysfsTer39,13/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,25.9,\N,\N,TCOF1
684505,5:149755720:GC>G,NM_001135243.1:c.1973del,NP_001128715.1:p.Pro658LeufsTer53,13/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,25.9,\N,\N,TCOF1
684506,5:149755724:C>G,NM_001135243.1:c.1973C>G,NP_001128715.1:p.Pro658Arg,13/27,\N,Unknown significance,\N,missense_variant,21.5,0.0014,1KG_AMR_AF,TCOF1
684507,5:149755727:T>A,NM_001135243.1:c.1976T>A,NP_001128715.1:p.Val659Glu,13/27,\N,Likely benign,\N,missense_variant,23.3,0.000121153,EXAC_SAS_AF,TCOF1
684508,5:149755729:C>T,NM_001135243.1:c.1978C>T,NP_001128715.1:p.Arg660Ter,13/27,\N,Pathogenic,Treacher-Collins syndrome,stop_gained,35,\N,\N,TCOF1
684509,5:149755730:G>A,NM_001135243.1:c.1979G>A,NP_001128715.1:p.Arg660Gln,13/27,\N,Likely benign,\N,missense_variant,6.835,0.000346821,EXAC_EAS_AF,TCOF1
684510,5:149755739:C>T,NM_001135243.1:c.1988C>T,NP_001128715.1:p.Thr663Ile,13/27,\N,Unknown significance,\N,missense_variant,14.52,0.000015068,EXAC_NFE_AF,TCOF1
684511,5:149755740:C>G,NM_001135243.1:c.1989C>G,NP_001128715.1:p.Thr663=,13/27,\N,Unknown significance,\N,synonymous_variant,8.01,0.0000150675,EXAC_NFE_AF,TCOF1
684512,5:149755743:A>G,NM_001135243.1:c.1992A>G,NP_001128715.1:p.Gln664=,13/27,\N,Unknown significance,\N,synonymous_variant,0.627,\N,\N,TCOF1
684513,5:149755743:AG>A,NM_001135243.1:c.1993del,NP_001128715.1:p.Ala665ProfsTer46,13/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,23.7,\N,\N,TCOF1
684514,5:149755744:G>C,NM_001008657.2:c.1993G>C,NP_001008657.1:p.Ala665Pro,13/18,\N,Benign,\N,missense_variant,21.6,0.122,1KG_EAS_AF,TCOF1
684515,5:149755744:G>A,NM_001135243.1:c.1993G>A,NP_001128715.1:p.Ala665Thr,13/27,\N,Likely benign,\N,missense_variant,20.9,0.0000301395,EXAC_NFE_AF,TCOF1
684516,5:149755744:G>T,NM_001135243.1:c.1993G>T,NP_001128715.1:p.Ala665Ser,13/27,\N,Likely benign,\N,missense_variant,19.33,0.0000968804,EXAC_AFR_AF,TCOF1
684517,5:149755744:G>GC,NM_001135243.1:c.1999dup,NP_001128715.1:p.Arg667ProfsTer31,13/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,25.7,\N,\N,TCOF1
684518,5:149755745:C>T,NM_001135243.1:c.1994C>T,NP_001128715.1:p.Ala665Val,13/27,\N,Unknown significance,\N,missense_variant,23.5,0.0000150748,EXAC_NFE_AF,TCOF1
684519,5:149755749:C>A,NM_001135243.1:c.1998C>A,NP_001128715.1:p.Pro666=,13/27,\N,Unknown significance,\N,synonymous_variant,13.72,0.000060584,EXAC_SAS_AF,TCOF1
684520,5:149755749:C>T,NM_001135243.1:c.1998C>T,NP_001128715.1:p.Pro666=,13/27,\N,Unknown significance,\N,synonymous_variant,12.64,0.000346901,EXAC_EAS_AF,TCOF1
684521,5:149755751:G>A,NM_001135243.1:c.2000G>A,NP_001128715.1:p.Arg667Gln,13/27,\N,Likely benign,\N,missense_variant,14.96,0.000907853,EVS_AA_AF,TCOF1
684522,5:149755751:G>C,NM_001135243.1:c.2000G>C,NP_001128715.1:p.Arg667Pro,13/27,\N,Likely benign,\N,missense_variant,23,0.00236306,EXAC_SAS_AF,TCOF1
684523,5:149755766:C>G,NM_001135243.1:c.2015C>G,NP_001128715.1:p.Ala672Gly,13/27,\N,Likely benign,\N,missense_variant,0.002,0.0000150834,EXAC_NFE_AF,TCOF1
684524,5:149755766:C>T,NM_001135243.1:c.2015C>T,NP_001128715.1:p.Ala672Val,13/27,\N,Likely benign,\N,missense_variant,0.007,0.000181774,EXAC_SAS_AF,TCOF1
684525,5:149755767:G>A,NM_001135243.1:c.2016G>A,NP_001128715.1:p.Ala672=,13/27,\N,Unknown significance,\N,synonymous_variant,10.2,\N,\N,TCOF1
684526,5:149755769:C>A,NM_001135243.1:c.2018C>A,NP_001128715.1:p.Thr673Asn,13/27,\N,Likely benign,\N,missense_variant,18.89,0.0000150834,EXAC_NFE_AF,TCOF1
684527,5:149755769:C>T,NM_001135243.1:c.2018C>T,NP_001128715.1:p.Thr673Ile,13/27,\N,Likely benign,\N,missense_variant,21.6,0.0000150834,EXAC_NFE_AF,TCOF1
684528,5:149755784:C>A,NM_001135243.1:c.2033C>A,NP_001128715.1:p.Ser678Ter,13/27,\N,Pathogenic,Treacher-Collins syndrome,stop_gained,36,\N,\N,TCOF1
684529,5:149755787:C>T,NM_000356.3:c.1805C>T,NP_000347.2:p.Ser602Phe,12/26,\N,Unknown significance,\N,missense_variant,24.2,\N,\N,TCOF1
684530,5:149755790:C>T,NM_001135243.1:c.2039C>T,NP_001128715.1:p.Pro680Leu,13/27,\N,Unknown significance,\N,missense_variant,24.3,0.000727273,EXAC_SAS_AF,TCOF1
684531,5:149755800:T>G,NM_001135243.1:c.2049T>G,NP_001128715.1:p.Ala683=,13/27,\N,Unknown significance,\N,synonymous_variant,6.676,\N,\N,TCOF1
684532,5:149755800:T>TG,NM_001135243.1:c.2054dup,NP_001128715.1:p.Thr686HisfsTer12,13/27,\N,Unknown significance,\N,frameshift_variant,22.3,\N,\N,TCOF1
684533,5:149755802:G>C,NM_001135243.1:c.2051G>C,NP_001128715.1:p.Gly684Ala,13/27,\N,Likely benign,\N,missense_variant,0.004,0.0000453063,EXAC_NFE_AF,TCOF1
684534,5:149755803:G>A,NM_001135243.1:c.2052G>A,NP_001128715.1:p.Gly684=,13/27,\N,Unknown significance,\N,synonymous_variant,6.47,0.000101709,EXAC_AFR_AF,TCOF1
684535,5:149755813:AGACCAGCAGAG>A,NM_001135243.1:c.2065_2075del,NP_001128715.1:p.Pro689PhefsTer5,13/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,34,\N,\N,TCOF1
684536,5:149755815:A>T,NM_001135243.1:c.2064A>T,NP_001128715.1:p.Arg688Ser,13/27,\N,Unknown significance,\N,missense_variant,23.4,\N,\N,TCOF1
684537,5:149755816:C>G,NM_001135243.1:c.2065C>G,NP_001128715.1:p.Pro689Ala,13/27,\N,Likely benign,\N,missense_variant,22.1,0.001,1KG_EAS_AF,TCOF1
684538,5:149755832:C>G,NM_001135243.1:c.2081C>G,NP_001128715.1:p.Ser694Ter,13/27,\N,Pathogenic,Treacher-Collins syndrome,stop_gained,35,\N,\N,TCOF1
684539,5:149755839:T>G,NM_001135243.1:c.2088T>G,NP_001128715.1:p.Ser696Arg,13/27,\N,Benign,\N,missense_variant,22.9,0.00545703,EVS_AA_AF,TCOF1
684540,5:149755840:G>A,NM_001135243.1:c.2089G>A,NP_001128715.1:p.Glu697Lys,13/27,\N,Unknown significance,\N,missense_variant,25,0.0000151094,EXAC_NFE_AF,TCOF1
684541,5:149755844:A>T,NM_001135243.1:c.2093A>T,NP_001128715.1:p.Glu698Val,13/27,\N,Unknown significance,\N,missense_variant,26.8,0.000121271,EXAC_SAS_AF,TCOF1
684542,5:149755845:A>G,NM_001135243.1:c.2094A>G,NP_001128715.1:p.Glu698=,13/27,\N,Benign,\N,synonymous_variant,8.667,0.0787,1KG_AFR_AF,TCOF1
684543,5:149755846:T>C,NM_001135243.1:c.2095T>C,NP_001128715.1:p.Ser699Pro,13/27,\N,Unknown significance,\N,missense_variant,25.2,0.0000606355,EXAC_SAS_AF,TCOF1
684544,5:149755847:CAG>C,NM_001135243.1:c.2098_2099del,NP_001128715.1:p.Asp700Ter,13/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,31,\N,\N,TCOF1
684545,5:149755847:CAGAT>C,NM_001135243.1:c.2099_2102del,NP_001128715.1:p.Asp700ValfsTer10,13/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,33,\N,\N,TCOF1
684546,5:149755847:CAGATAGTG>C,NM_001135243.1:c.2099_2106del,NP_001128715.1:p.Asp700GlyfsTer55,13/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,35,\N,\N,TCOF1
684547,5:149755849:G>C,NM_001135243.1:c.2098G>C,NP_001128715.1:p.Asp700His,13/27,\N,Unknown significance,\N,missense_variant,24.6,0.0000151103,EXAC_NFE_AF,TCOF1
684548,5:149755851:TAGTG>T,NM_001135243.1:c.2103_2106del,NP_001128715.1:p.Ser701ArgfsTer9,13/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,34,\N,\N,TCOF1
684549,5:149755857:GGAAGA>G,NM_001135243.1:c.2112_2116del,NP_001128715.1:p.Glu704AspfsTer52,13/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,33,\N,\N,TCOF1
684550,5:149755861:G>GAGAAGACAGGTCTTGCAGTAACCGTGGGAC,NM_001135243.1:c.2113_2142dup,NP_001128715.1:p.Lys705_Gln714dup,13/27,\N,Unknown significance,\N,inframe_insertion,0.331,\N,\N,TCOF1
684551,5:149755863:G>C,NM_001135243.1:c.2112G>C,NP_001128715.1:p.Glu704Asp,13/27,\N,Likely benign,\N,missense_variant,18.48,0.000813953,EXAC_EAS_AF,TCOF1
684552,5:149755869:A>G,NM_001135243.1:c.2118A>G,NP_001128715.1:p.Thr706=,13/27,\N,Unknown significance,\N,synonymous_variant,0.119,0.0000865651,EXAC_AMR_AF,TCOF1
684553,5:149755871:G>T,NM_001008657.2:c.2120G>T,NP_001008657.1:p.Gly707Val,13/18,\N,Likely benign,\N,missense_variant,18.48,0.0000865651,EXAC_AMR_AF,TCOF1
684554,5:149755873:C>T,NM_001135243.1:c.2122C>T,NP_001128715.1:p.Leu708Phe,13/27,\N,Likely benign,\N,missense_variant,22.9,0.0000151117,EXAC_NFE_AF,TCOF1
684555,5:149755875:T>A,NM_001135243.1:c.2124T>A,NP_001128715.1:p.Leu708=,13/27,\N,Unknown significance,\N,synonymous_variant,5.203,0.00110619,EXAC_OTH_AF,TCOF1
684556,5:149755884:C>A,NM_001135243.1:c.2133C>A,NP_001128715.1:p.Thr711=,13/27,\N,Unknown significance,\N,synonymous_variant,17.52,0.0000865951,EXAC_AMR_AF,TCOF1
684557,5:149755884:C>T,NM_001135243.1:c.2133C>T,NP_001128715.1:p.Thr711=,13/27,\N,Unknown significance,\N,synonymous_variant,12.89,0.000349081,EXAC_EAS_AF,TCOF1
684558,5:149755885:G>A,NM_001135243.1:c.2134G>A,NP_001128715.1:p.Val712Met,13/27,\N,Likely benign,\N,missense_variant,4.114,0.000228311,EVS_AA_AF,TCOF1
684559,5:149755891:C>G,NM_001135243.1:c.2140C>G,NP_001128715.1:p.Gln714Glu,13/27,\N,Unknown significance,\N,missense_variant&splice_region_variant,23.6,0.00110865,EXAC_OTH_AF,TCOF1
684560,5:149755894:G>A,NM_001135243.1:c.2142+1G>A,\N,\N,13/26,Pathogenic,Treacher-Collins syndrome,splice_donor_variant,23.3,\N,\N,TCOF1
684561,5:149755900:C>G,NM_001135243.1:c.2142+7C>G,\N,\N,13/26,Unknown significance,\N,splice_region_variant&intron_variant,10.95,0.00004532,EXAC_NFE_AF,TCOF1
684562,5:149755901:CTG>C,NM_001135243.1:c.2142+12_2142+13del,\N,\N,13/26,Unknown significance,\N,intron_variant,12.3,0.0000606649,EXAC_SAS_AF,TCOF1
684563,5:149755912:G>C,NM_001135243.1:c.2142+19G>C,\N,\N,13/26,Unknown significance,\N,intron_variant,1.263,0.001,1KG_SAS_AF,TCOF1
684564,5:149755914:G>T,NM_001135243.1:c.2142+21G>T,\N,\N,13/26,Unknown significance,\N,intron_variant,2.96,0.000102754,EXAC_AFR_AF,TCOF1
684565,5:149755915:C>T,NM_001135243.1:c.2142+22C>T,\N,\N,13/26,Likely benign,Treacher collins syndrome 1,intron_variant,1.008,0.0000866401,EXAC_AMR_AF,TCOF1
684566,5:149755927:C>T,NM_001135243.1:c.2142+34C>T,\N,\N,13/26,Unknown significance,\N,intron_variant,6.748,0.000116414,EVS_EA_AF,TCOF1
684567,5:149755928:C>T,NM_001135243.1:c.2142+35C>T,\N,\N,13/26,Unknown significance,\N,intron_variant,4.085,0.0014,1KG_AMR_AF,TCOF1
684568,5:149755929:G>A,NM_001135243.1:c.2142+36G>A,\N,\N,13/26,Unknown significance,\N,intron_variant,5.424,0.000227376,EVS_AA_AF,TCOF1
684569,5:149755930:C>T,NM_001135243.1:c.2142+37C>T,\N,\N,13/26,Unknown significance,\N,intron_variant,7.205,0.000116306,EXAC_EAS_AF,TCOF1
684570,5:149755936:C>T,NM_001135243.1:c.2142+43C>T,\N,\N,13/26,Unknown significance,\N,intron_variant,3.199,0.0000606502,EXAC_SAS_AF,TCOF1
684571,5:149755937:G>A,NM_001135243.1:c.2142+44G>A,\N,\N,13/26,Unknown significance,\N,intron_variant,1.138,0.0000606502,EXAC_SAS_AF,TCOF1
684572,5:149755937:G>C,NM_001135243.1:c.2142+44G>C,\N,\N,13/26,Unknown significance,\N,intron_variant,0.122,0.000116279,EVS_EA_AF,TCOF1
684573,5:149755945:T>C,NM_001135243.1:c.2143-41T>C,\N,\N,13/26,Unknown significance,\N,intron_variant,7.302,0.000116279,EVS_EA_AF,TCOF1
684574,5:149755950:C>T,NM_001135243.1:c.2143-36C>T,\N,\N,13/26,Unknown significance,\N,intron_variant,7.309,0.001,1KG_EAS_AF,TCOF1
684575,5:149755953:C>T,NM_001135243.1:c.2143-33C>T,\N,\N,13/26,Unknown significance,\N,intron_variant,9.508,0.000101399,EXAC_AFR_AF,TCOF1
684576,5:149755956:G>A,NM_001135243.1:c.2143-30G>A,\N,\N,13/26,Benign,\N,intron_variant,11.82,0.0113,1KG_AFR_AF,TCOF1
684577,5:149755965:C>G,NM_001135243.1:c.2143-21C>G,\N,\N,13/26,Unknown significance,\N,intron_variant,10.77,0.0000605987,EXAC_SAS_AF,TCOF1
684578,5:149755973:C>G,NM_001135243.1:c.2143-13C>G,\N,\N,13/26,Unknown significance,\N,intron_variant,7.661,\N,\N,TCOF1
684579,5:149755973:C>T,NM_001135243.1:c.2143-13C>T,\N,\N,13/26,Unknown significance,\N,intron_variant,8.348,0.000116279,EVS_EA_AF,TCOF1
684580,5:149755981:C>T,NM_001135243.1:c.2143-5C>T,\N,\N,13/26,Unknown significance,\N,splice_region_variant&intron_variant,12.69,0.0000150313,EXAC_NFE_AF,TCOF1
684581,5:149755987:C>T,NM_001135243.1:c.2144C>T,NP_001128715.1:p.Ala715Val,14/27,\N,Likely benign,\N,missense_variant&splice_region_variant,16.95,0.000116279,EVS_EA_AF,TCOF1
684582,5:149755987:CAA>C,NM_001135243.1:c.2146_2147del,NP_001128715.1:p.Lys716ValfsTer41,14/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant&splice_region_variant,28.6,\N,\N,TCOF1
684583,5:149755994:T>A,NM_001135243.1:c.2151T>A,NP_001128715.1:p.Ser717=,14/27,\N,Benign,\N,synonymous_variant,9.956,0.0053,1KG_AFR_AF,TCOF1
684584,5:149755995:G>A,NM_001135243.1:c.2152G>A,NP_001128715.1:p.Val718Met,14/27,\N,Unknown significance,\N,missense_variant,24,0.0000865951,EXAC_AMR_AF,TCOF1
684585,5:149755996:T>TG,NM_001135243.1:c.2157dup,NP_001128715.1:p.Lys720GlufsTer38,14/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,32,\N,\N,TCOF1
684586,5:149755998:G>A,NM_001135243.1:c.2155G>A,NP_001128715.1:p.Gly719Arg,14/27,\N,Unknown significance,\N,missense_variant,23.9,\N,\N,TCOF1
684587,5:149755999:G>A,NM_000356.3:c.1925G>A,NP_000347.2:p.Gly642Glu,13/26,\N,Unknown significance,\N,missense_variant,27,0.0000150317,EXAC_NFE_AF,TCOF1
684588,5:149756005:GC>G,NM_001135243.1:c.2164del,NP_001128715.1:p.Leu722SerfsTer3,14/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,27.2,\N,\N,TCOF1
684589,5:149756010:C>T,NM_001135243.1:c.2167C>T,NP_001128715.1:p.Gln723Ter,14/27,\N,Pathogenic,Treacher-Collins syndrome,stop_gained,36,\N,\N,TCOF1
684590,5:149756012:G>A,NM_001135243.1:c.2169G>A,NP_001128715.1:p.Gln723=,14/27,\N,Unknown significance,\N,synonymous_variant,5.283,0.0000150539,EXAC_NFE_AF,TCOF1
684591,5:149756015:G>A,NM_001135243.1:c.2172G>A,NP_001128715.1:p.Val724=,14/27,\N,Unknown significance,\N,synonymous_variant,8.821,0.0000607238,EXAC_SAS_AF,TCOF1
684592,5:149756024:C>A,NM_001135243.1:c.2181C>A,NP_001128715.1:p.Ala727=,14/27,\N,Unknown significance,\N,synonymous_variant,14.88,0.0000151007,EXAC_NFE_AF,TCOF1
684593,5:149756027:A>C,NM_001135243.1:c.2184A>C,NP_001128715.1:p.Ser728=,14/27,\N,Unknown significance,\N,synonymous_variant,0.069,0.00113122,EXAC_OTH_AF,TCOF1
684594,5:149756031:C>T,NM_001135243.1:c.2188C>T,NP_001128715.1:p.Pro730Ser,14/27,\N,Likely benign,\N,missense_variant,23.3,0.00116279,EVS_EA_AF,TCOF1
684595,5:149756036:C>T,NM_001135243.1:c.2193C>T,NP_001128715.1:p.Val731=,14/27,\N,Unknown significance,\N,synonymous_variant,10.29,0.0000979816,EXAC_AFR_AF,TCOF1
684596,5:149756038:A>C,NM_001135243.1:c.2195A>C,NP_001128715.1:p.Lys732Thr,14/27,\N,Likely benign,\N,missense_variant,22.7,0.0000613572,EXAC_SAS_AF,TCOF1
684597,5:149756044:C>T,NM_001135243.1:c.2201C>T,NP_001128715.1:p.Ser734Phe,14/27,\N,Unknown significance,\N,missense_variant,13.01,0.000123732,EXAC_SAS_AF,TCOF1
684598,5:149756048:G>C,NM_001135243.1:c.2205G>C,NP_001128715.1:p.Leu735Phe,14/27,\N,Likely benign,\N,missense_variant,11.63,0.001,1KG_EUR_AF,TCOF1
684599,5:149756057:G>C,NM_001135243.1:c.2214G>C,NP_001128715.1:p.Gly738=,14/27,\N,Unknown significance,\N,synonymous_variant,1.916,0.0000162607,EXAC_NFE_AF,TCOF1
684600,5:149756058:A>G,NM_001135243.1:c.2215A>G,NP_001128715.1:p.Thr739Ala,14/27,\N,Likely benign,\N,missense_variant,0.028,\N,\N,TCOF1
684601,5:149756059:C>G,NM_001008657.2:c.2216C>G,NP_001008657.1:p.Thr739Ser,14/18,\N,Likely benign,\N,missense_variant,15.37,0.0001288,EXAC_SAS_AF,TCOF1
684602,5:149756061:G>A,NM_001135243.1:c.2218G>A,NP_001128715.1:p.Ala740Thr,14/27,\N,Likely benign,\N,missense_variant,0.201,0.000226963,EVS_AA_AF,TCOF1
684603,5:149756066:A>G,NM_001135243.1:c.2223A>G,NP_001128715.1:p.Pro741=,14/27,\N,Unknown significance,\N,synonymous_variant,1.682,0.0000170155,EXAC_NFE_AF,TCOF1
684604,5:149756083:C>T,NM_001135243.1:c.2240C>T,NP_001128715.1:p.Thr747Met,14/27,\N,Likely benign,\N,missense_variant,23.2,0.0014,1KG_AMR_AF,TCOF1
684605,5:149756083:C>CG,NM_001135243.1:c.2244dup,NP_001128715.1:p.Pro749AlafsTer9,14/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,28.7,\N,\N,TCOF1
684606,5:149756084:G>A,NM_001135243.1:c.2241G>A,NP_001128715.1:p.Thr747=,14/27,\N,Unknown significance,\N,synonymous_variant,11.89,0.000073078,EXAC_SAS_AF,TCOF1
684607,5:149756084:G>T,NM_001135243.1:c.2241G>T,NP_001128715.1:p.Thr747=,14/27,\N,Unknown significance,\N,synonymous_variant,8.773,0.0000406207,EXAC_NFE_AF,TCOF1
684608,5:149756085:G>A,NM_001135243.1:c.2242G>A,NP_001128715.1:p.Gly748Arg,14/27,\N,Likely benign,\N,missense_variant,9.669,0.001,1KG_SAS_AF,TCOF1
684609,5:149756088:C>T,NM_001008657.2:c.2245C>T,NP_001008657.1:p.Pro749Ser,14/18,\N,Benign,\N,missense_variant,22.6,0.0387755,EXAC_AFR_AF,TCOF1
684610,5:149756091:A>G,NM_001135243.1:c.2248A>G,NP_001128715.1:p.Thr750Ala,14/27,\N,Likely benign,\N,missense_variant,0.001,0.0023,1KG_AFR_AF,TCOF1
684611,5:149756091:ACAGTCAC>A,NM_001135243.1:c.2250_2256del,NP_001128715.1:p.Val751ArgfsTer2,14/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,28.7,\N,\N,TCOF1
684612,5:149756091:ACAGTCACC>A,NM_001135243.1:c.2252_2259del,NP_001128715.1:p.Val751GlyfsTer4,14/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,28.7,\N,\N,TCOF1
684613,5:149756092:C>T,NM_001135243.1:c.2249C>T,NP_001128715.1:p.Thr750Ile,14/27,\N,Likely benign,\N,missense_variant,23.2,0.0000217685,EXAC_NFE_AF,TCOF1
684614,5:149756100:C>T,NM_001135243.1:c.2257C>T,NP_001128715.1:p.Gln753Ter,14/27,\N,Pathogenic,Treacher-Collins syndrome,stop_gained,35,\N,\N,TCOF1
684615,5:149756101:A>T,NM_001135243.1:c.2258A>T,NP_001128715.1:p.Gln753Leu,14/27,\N,Likely benign,\N,missense_variant,17.53,0.0000238698,EXAC_NFE_AF,TCOF1
684616,5:149756125:ACT>A,NM_001135243.1:c.2285_2286del,NP_001128715.1:p.Ser762Ter,14/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,35,\N,\N,TCOF1
684617,5:149756129:TGA>T,NM_001135243.1:c.2290_2291del,NP_001128715.1:p.Ser764GlnfsTer2,14/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,35,\N,\N,TCOF1
684618,5:149756130:G>T,NM_001135243.1:c.2287G>T,NP_001128715.1:p.Glu763Ter,14/27,\N,Pathogenic,Treacher-Collins syndrome,stop_gained,41,\N,\N,TCOF1
684619,5:149756134:G>GCAGTGAGGAGGAATCAGA,NM_001135243.1:c.2301_2318dup,NP_001128715.1:p.Glu768_Glu773dup,14/27,\N,Unknown significance,\N,inframe_insertion,14.4,\N,\N,TCOF1
684620,5:149756153:CAGTG>C,NM_001135243.1:c.2313_2316del,NP_001128715.1:p.Ser771ArgfsTer10,14/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,29.3,\N,\N,TCOF1
684621,5:149756159:G>T,NM_001135243.1:c.2316G>T,NP_001128715.1:p.Glu772Asp,14/27,\N,Likely benign,\N,missense_variant,10.53,0.000116333,EVS_EA_AF,TCOF1
684622,5:149756175:C>T,NM_001135243.1:c.2332C>T,NP_001128715.1:p.Pro778Ser,14/27,\N,Likely benign,\N,missense_variant,1.53,0.00088968,EXAC_AFR_AF,TCOF1
684623,5:149756177:A>C,NM_001135243.1:c.2334A>C,NP_001128715.1:p.Pro778=,14/27,\N,Unknown significance,\N,synonymous_variant,0.071,\N,\N,TCOF1
684624,5:149756205:C>A,NM_001135243.1:c.2340+22C>A,\N,\N,14/26,Unknown significance,\N,intron_variant,7.591,0.00284091,EXAC_EAS_AF,TCOF1
684625,5:149756206:C>G,NM_001135243.1:c.2340+23C>G,\N,\N,14/26,Unknown significance,\N,intron_variant,4.814,0.002849,EXAC_EAS_AF,TCOF1
684626,5:149756206:C>T,NM_001135243.1:c.2340+23C>T,\N,\N,14/26,Unknown significance,\N,intron_variant,6.061,\N,\N,TCOF1
684627,5:149756228:T>C,NM_001135243.1:c.2340+45T>C,\N,\N,14/26,Unknown significance,\N,intron_variant,4.177,\N,\N,TCOF1
684628,5:149756234:A>G,NM_001135243.1:c.2340+51A>G,\N,\N,14/26,Unknown significance,\N,intron_variant,4.914,\N,\N,TCOF1
684629,5:149756235:G>A,NM_001135243.1:c.2340+52G>A,\N,\N,14/26,Unknown significance,\N,intron_variant,5.462,0.00151515,EXAC_EAS_AF,TCOF1
684630,5:149756243:G>T,NM_001135243.1:c.2340+60G>T,\N,\N,14/26,Unknown significance,\N,intron_variant,2.243,0.0008,1KG_AFR_AF,TCOF1
684631,5:149756307:A>G,NM_001135243.1:c.2340+124A>G,\N,\N,14/26,Unknown significance,\N,intron_variant,6.379,\N,\N,TCOF1
684632,5:149756309:AG>A,NM_001135243.1:c.2340+127del,\N,\N,14/26,Benign,\N,intron_variant,1.39,0.0083,1KG_AFR_AF,TCOF1
684633,5:149756356:C>T,NM_001135243.1:c.2340+173C>T,\N,\N,14/26,Unknown significance,\N,intron_variant,7.777,0.0038,1KG_AFR_AF,TCOF1
684634,5:149756379:C>T,NM_001135243.1:c.2340+196C>T,\N,\N,14/26,Unknown significance,\N,intron_variant,9.008,0.0008,1KG_AFR_AF,TCOF1
684635,5:149756411:G>T,NM_001135243.1:c.2340+228G>T,\N,\N,14/26,Unknown significance,\N,intron_variant,0.286,0.001,1KG_EAS_AF,TCOF1
684636,5:149756427:CTG>C,NM_001135243.1:c.2340+245_2340+246del,\N,\N,14/26,Unknown significance,\N,intron_variant,\N,\N,\N,TCOF1
684637,5:149756443:G>C,NM_001135243.1:c.2340+260G>C,\N,\N,14/26,Unknown significance,\N,intron_variant,3.458,0.001,1KG_SAS_AF,TCOF1
684638,5:149756457:T>G,NM_001135243.1:c.2340+274T>G,\N,\N,14/26,Unknown significance,\N,intron_variant,6.688,0.001,1KG_EAS_AF,TCOF1
684639,5:149756469:G>T,NM_001135243.1:c.2340+286G>T,\N,\N,14/26,Benign,\N,intron_variant,1.535,0.0099,1KG_EUR_AF,TCOF1
684640,5:149756474:G>A,NM_001135243.1:c.2340+291G>A,\N,\N,14/26,Unknown significance,\N,intron_variant,5.567,\N,\N,TCOF1
684641,5:149756477:G>C,NM_001135243.1:c.2340+294G>C,\N,\N,14/26,Benign,\N,intron_variant,0.423,1,1KG_AFR_AF,TCOF1
684642,5:149756487:A>G,NM_001135243.1:c.2340+304A>G,\N,\N,14/26,Unknown significance,\N,intron_variant,2.558,0.001,1KG_EAS_AF,TCOF1
684643,5:149756488:G>A,NM_001135243.1:c.2340+305G>A,\N,\N,14/26,Unknown significance,\N,intron_variant,3.753,0.0029,1KG_AMR_AF,TCOF1
684644,5:149756513:G>A,NM_001135243.1:c.2340+330G>A,\N,\N,14/26,Unknown significance,\N,intron_variant,5.174,\N,\N,TCOF1
684645,5:149756526:C>T,NM_001135243.1:c.2340+343C>T,\N,\N,14/26,Unknown significance,\N,intron_variant,5.131,\N,\N,TCOF1
684646,5:149756536:C>T,NM_001135243.1:c.2340+353C>T,\N,\N,14/26,Unknown significance,\N,intron_variant,2.515,\N,\N,TCOF1
684647,5:149756537:G>A,NM_001135243.1:c.2340+354G>A,\N,\N,14/26,Benign,\N,intron_variant,4.338,0.0072,1KG_SAS_AF,TCOF1
684648,5:149756544:T>C,NM_001135243.1:c.2340+361T>C,\N,\N,14/26,Unknown significance,\N,intron_variant,4.67,\N,\N,TCOF1
684649,5:149756583:A>G,NM_001135243.1:c.2340+400A>G,\N,\N,14/26,Unknown significance,\N,intron_variant,5.219,0.0008,1KG_AFR_AF,TCOF1
684650,5:149756593:A>G,NM_001135243.1:c.2340+410A>G,\N,\N,14/26,Unknown significance,\N,intron_variant,2.071,0.001,1KG_EAS_AF,TCOF1
684651,5:149756630:A>G,NM_001135243.1:c.2340+447A>G,\N,\N,14/26,Unknown significance,\N,intron_variant,3.707,\N,\N,TCOF1
684652,5:149756641:G>C,NM_001135243.1:c.2340+458G>C,\N,\N,14/26,Unknown significance,\N,intron_variant,0.714,0.001,1KG_SAS_AF,TCOF1
684653,5:149756661:G>A,NM_001135243.1:c.2340+478G>A,\N,\N,14/26,Unknown significance,\N,intron_variant,1.885,0.0045,1KG_AFR_AF,TCOF1
684654,5:149756720:G>T,NM_001135243.1:c.2340+537G>T,\N,\N,14/26,Unknown significance,\N,intron_variant,4.098,\N,\N,TCOF1
684655,5:149756731:G>C,NM_001135243.1:c.2340+548G>C,\N,\N,14/26,Unknown significance,\N,intron_variant,5.792,\N,\N,TCOF1
684656,5:149756735:C>T,NM_001135243.1:c.2340+552C>T,\N,\N,14/26,Unknown significance,\N,intron_variant,6.287,\N,\N,TCOF1
684657,5:149756748:G>A,NM_001135243.1:c.2340+565G>A,\N,\N,14/26,Unknown significance,\N,intron_variant,6.06,\N,\N,TCOF1
684658,5:149756762:G>A,NM_001135243.1:c.2340+579G>A,\N,\N,14/26,Benign,\N,intron_variant,6.763,0.0051,1KG_SAS_AF,TCOF1
684659,5:149756770:G>C,NM_001135243.1:c.2340+587G>C,\N,\N,14/26,Benign,\N,intron_variant,5.102,0.122,1KG_EAS_AF,TCOF1
684660,5:149756795:G>A,NM_001135243.1:c.2340+612G>A,\N,\N,14/26,Unknown significance,\N,intron_variant,8.092,0.0014,1KG_AMR_AF,TCOF1
684661,5:149756825:A>C,NM_001135243.1:c.2340+642A>C,\N,\N,14/26,Benign,\N,intron_variant,0.617,0.122,1KG_EAS_AF,TCOF1
684662,5:149756852:T>C,NM_001135243.1:c.2340+669T>C,\N,\N,14/26,Unknown significance,\N,intron_variant,3.403,0.0014,1KG_AMR_AF,TCOF1
684663,5:149756871:C>T,NM_001135243.1:c.2340+688C>T,\N,\N,14/26,Benign,\N,intron_variant,7.418,0.0174,1KG_AFR_AF,TCOF1
684664,5:149756893:G>A,NM_001135243.1:c.2340+710G>A,\N,\N,14/26,Unknown significance,\N,intron_variant,5.275,\N,\N,TCOF1
684665,5:149756900:GGTGA>G,NM_001135243.1:c.2340+719_2340+722del,\N,\N,14/26,Benign,\N,intron_variant,6.549,0.005,1KG_EUR_AF,TCOF1
684666,5:149756969:T>C,NM_001135243.1:c.2340+786T>C,\N,\N,14/26,Unknown significance,\N,intron_variant,5.332,\N,\N,TCOF1
684667,5:149757027:G>A,NM_001135243.1:c.2340+844G>A,\N,\N,14/26,Unknown significance,\N,intron_variant,5.565,0.0014,1KG_AMR_AF,TCOF1
684668,5:149757084:G>A,NM_001135243.1:c.2340+901G>A,\N,\N,14/26,Unknown significance,\N,intron_variant,3.373,\N,\N,TCOF1
684669,5:149757099:G>A,NM_001135243.1:c.2340+916G>A,\N,\N,14/26,Unknown significance,\N,intron_variant,8.271,0.0045,1KG_AFR_AF,TCOF1
684670,5:149757099:G>T,NM_001135243.1:c.2340+916G>T,\N,\N,14/26,Unknown significance,\N,intron_variant,7.155,\N,\N,TCOF1
684671,5:149757108:CAG>C,NM_001135243.1:c.2340+927_2340+928del,\N,\N,14/26,Unknown significance,\N,intron_variant,\N,\N,\N,TCOF1
684672,5:149757132:T>G,NM_001135243.1:c.2340+949T>G,\N,\N,14/26,Unknown significance,\N,intron_variant,11.02,0.001,1KG_EAS_AF,TCOF1
684673,5:149757148:C>T,NM_001135243.1:c.2340+965C>T,\N,\N,14/26,Unknown significance,\N,intron_variant,7.913,\N,\N,TCOF1
684674,5:149757154:T>C,NM_001135243.1:c.2340+971T>C,\N,\N,14/26,Unknown significance,\N,intron_variant,3.697,0.0014,1KG_AMR_AF,TCOF1
684675,5:149757166:T>C,NM_001135243.1:c.2340+983T>C,\N,\N,14/26,Unknown significance,\N,intron_variant,2.75,0.002,1KG_EUR_AF,TCOF1
684676,5:149757218:T>C,NM_001135243.1:c.2340+1035T>C,\N,\N,14/26,Unknown significance,\N,intron_variant,2.334,0.0008,1KG_AFR_AF,TCOF1
684677,5:149757220:G>C,NM_001135243.1:c.2340+1037G>C,\N,\N,14/26,Unknown significance,\N,intron_variant,4.504,0.0015,1KG_AFR_AF,TCOF1
684678,5:149757227:T>C,NM_001135243.1:c.2340+1044T>C,\N,\N,14/26,Unknown significance,\N,intron_variant,5.362,\N,\N,TCOF1
684679,5:149757234:C>T,NM_001135243.1:c.2340+1051C>T,\N,\N,14/26,Unknown significance,\N,intron_variant,3.606,0.001,1KG_EUR_AF,TCOF1
684680,5:149757240:G>A,NM_001135243.1:c.2340+1057G>A,\N,\N,14/26,Unknown significance,\N,intron_variant,6.204,0.001,1KG_EUR_AF,TCOF1
684681,5:149757256:C>T,NM_001135243.1:c.2340+1073C>T,\N,\N,14/26,Unknown significance,\N,intron_variant,7.571,\N,\N,TCOF1
684682,5:149757296:C>CA,NM_001135243.1:c.2340+1115dup,\N,\N,14/26,Benign,\N,intron_variant,8.013,0.0151,1KG_AFR_AF,TCOF1
684683,5:149757298:A>G,NM_001135243.1:c.2340+1115A>G,\N,\N,14/26,Unknown significance,\N,intron_variant,4.625,0.0008,1KG_AFR_AF,TCOF1
684684,5:149757325:T>C,NM_001135243.1:c.2340+1142T>C,\N,\N,14/26,Unknown significance,\N,intron_variant,2.491,0.0023,1KG_AFR_AF,TCOF1
684685,5:149757401:C>G,NM_001135243.1:c.2341-1067C>G,\N,\N,14/26,Unknown significance,\N,intron_variant,5.201,0.0015,1KG_AFR_AF,TCOF1
684686,5:149757421:A>C,NM_001135243.1:c.2341-1047A>C,\N,\N,14/26,Unknown significance,\N,intron_variant,4.818,0.001,1KG_EAS_AF,TCOF1
684687,5:149757425:G>GT,NM_001135243.1:c.2341-1040dup,\N,\N,14/26,Benign,\N,intron_variant,9.304,0.0082,1KG_SAS_AF,TCOF1
684688,5:149757426:T>C,NM_001135243.1:c.2341-1042T>C,\N,\N,14/26,Unknown significance,\N,intron_variant,7.077,\N,\N,TCOF1
684689,5:149757455:G>A,NM_001135243.1:c.2341-1013G>A,\N,\N,14/26,Unknown significance,\N,intron_variant,12.71,\N,\N,TCOF1
684690,5:149757467:T>C,NM_001135243.1:c.2341-1001T>C,\N,\N,14/26,Unknown significance,\N,intron_variant,10.28,\N,\N,TCOF1
684691,5:149757510:G>A,NM_001135243.1:c.2341-958G>A,\N,\N,14/26,Unknown significance,\N,intron_variant,9.769,0.004,1KG_EAS_AF,TCOF1
684692,5:149757520:A>G,NM_001135243.1:c.2341-948A>G,\N,\N,14/26,Unknown significance,\N,intron_variant,1.409,0.001,1KG_EAS_AF,TCOF1
684693,5:149757560:T>C,NM_001135243.1:c.2341-908T>C,\N,\N,14/26,Unknown significance,\N,intron_variant,6.952,\N,\N,TCOF1
684694,5:149757695:A>G,NM_001135243.1:c.2341-773A>G,\N,\N,14/26,Unknown significance,\N,intron_variant,4.717,0.0008,1KG_AFR_AF,TCOF1
684695,5:149757722:T>C,NM_001135243.1:c.2341-746T>C,\N,\N,14/26,Unknown significance,\N,intron_variant,3.205,0.001,1KG_EAS_AF,TCOF1
684696,5:149757723:G>A,NM_001135243.1:c.2341-745G>A,\N,\N,14/26,Unknown significance,\N,intron_variant,3.101,\N,\N,TCOF1
684697,5:149757748:T>C,NM_001135243.1:c.2341-720T>C,\N,\N,14/26,Benign,\N,intron_variant,3.987,0.0151,1KG_AFR_AF,TCOF1
684698,5:149757796:G>A,NM_001135243.1:c.2341-672G>A,\N,\N,14/26,Unknown significance,\N,intron_variant,1.118,\N,\N,TCOF1
684699,5:149757798:G>A,NM_001135243.1:c.2341-670G>A,\N,\N,14/26,Unknown significance,\N,intron_variant,2.282,\N,\N,TCOF1
684700,5:149757864:C>CTT,NM_001135243.1:c.2341-596_2341-595dup,\N,\N,14/26,Unknown significance,\N,intron_variant,\N,\N,\N,TCOF1
684701,5:149757871:T>G,NM_001135243.1:c.2341-597T>G,\N,\N,14/26,Unknown significance,\N,intron_variant,1.893,0.001,1KG_EAS_AF,TCOF1
684702,5:149757895:A>T,NM_001135243.1:c.2341-573A>T,\N,\N,14/26,Unknown significance,\N,intron_variant,1.663,\N,\N,TCOF1
684703,5:149757926:A>G,NM_001135243.1:c.2341-542A>G,\N,\N,14/26,Unknown significance,\N,intron_variant,11.09,0.0015,1KG_AFR_AF,TCOF1
684704,5:149757930:C>T,NM_001135243.1:c.2341-538C>T,\N,\N,14/26,Unknown significance,\N,intron_variant,12.28,0.0008,1KG_AFR_AF,TCOF1
684705,5:149757931:G>A,NM_001135243.1:c.2341-537G>A,\N,\N,14/26,Unknown significance,\N,intron_variant,8.591,0.002,1KG_EAS_AF,TCOF1
684706,5:149757944:T>C,NM_001135243.1:c.2341-524T>C,\N,\N,14/26,Unknown significance,\N,intron_variant,9.407,\N,\N,TCOF1
684707,5:149757963:AAAC>A,NM_001135243.1:c.2341-499_2341-497del,\N,\N,14/26,Unknown significance,\N,intron_variant,8.41,0.0023,1KG_AFR_AF,TCOF1
684708,5:149757969:C>T,NM_001135243.1:c.2341-499C>T,\N,\N,14/26,Benign,\N,intron_variant,11.6,0.0188,1KG_EAS_AF,TCOF1
684709,5:149757987:G>A,NM_001135243.1:c.2341-481G>A,\N,\N,14/26,Unknown significance,\N,intron_variant,5.168,\N,\N,TCOF1
684710,5:149758025:T>C,NM_001135243.1:c.2341-443T>C,\N,\N,14/26,Unknown significance,\N,intron_variant,1.306,0.003,1KG_AFR_AF,TCOF1
684711,5:149758082:C>G,NM_001135243.1:c.2341-386C>G,\N,\N,14/26,Unknown significance,\N,intron_variant,3.132,\N,\N,TCOF1
684712,5:149758117:CT>C,NM_001135243.1:c.2341-350del,\N,\N,14/26,Benign,\N,intron_variant,11.13,0.0061,1KG_AFR_AF,TCOF1
684713,5:149758150:T>A,NM_001135243.1:c.2341-318T>A,\N,\N,14/26,Unknown significance,\N,intron_variant,9.254,\N,\N,TCOF1
684714,5:149758184:G>A,NM_001135243.1:c.2341-284G>A,\N,\N,14/26,Unknown significance,\N,intron_variant,6.368,0.0008,1KG_AFR_AF,TCOF1
684715,5:149758189:A>G,NM_001135243.1:c.2341-279A>G,\N,\N,14/26,Unknown significance,\N,intron_variant,5.195,0.002,1KG_EUR_AF,TCOF1
684716,5:149758222:A>G,NM_001135243.1:c.2341-246A>G,\N,\N,14/26,Unknown significance,\N,intron_variant,2.848,\N,\N,TCOF1
684717,5:149758224:G>A,NM_001135243.1:c.2341-244G>A,\N,\N,14/26,Unknown significance,\N,intron_variant,5.239,\N,\N,TCOF1
684718,5:149758232:C>G,NM_001135243.1:c.2341-236C>G,\N,\N,14/26,Unknown significance,\N,intron_variant,12.67,0.001,1KG_EAS_AF,TCOF1
684719,5:149758241:CTATT>C,NM_001135243.1:c.2341-224_2341-221del,\N,\N,14/26,Unknown significance,\N,intron_variant,\N,\N,\N,TCOF1
684720,5:149758255:T>C,NM_001135243.1:c.2341-213T>C,\N,\N,14/26,Unknown significance,\N,intron_variant,3.525,\N,\N,TCOF1
684721,5:149758264:G>A,NM_001135243.1:c.2341-204G>A,\N,\N,14/26,Unknown significance,\N,intron_variant,3.668,0.0014,1KG_AMR_AF,TCOF1
684722,5:149758271:G>C,NM_001135243.1:c.2341-197G>C,\N,\N,14/26,Unknown significance,\N,intron_variant,1.201,\N,\N,TCOF1
684723,5:149758275:T>G,NM_001135243.1:c.2341-193T>G,\N,\N,14/26,Unknown significance,\N,intron_variant,5.94,0.002,1KG_EAS_AF,TCOF1
684724,5:149758283:A>G,NM_001135243.1:c.2341-185A>G,\N,\N,14/26,Unknown significance,\N,intron_variant,6.189,0.001,1KG_EAS_AF,TCOF1
684725,5:149758294:A>G,NM_001135243.1:c.2341-174A>G,\N,\N,14/26,Unknown significance,\N,intron_variant,1.721,\N,\N,TCOF1
684726,5:149758297:G>A,NM_001135243.1:c.2341-171G>A,\N,\N,14/26,Unknown significance,\N,intron_variant,3.283,0.0008,1KG_AFR_AF,TCOF1
684727,5:149758317:G>C,NM_001135243.1:c.2341-151G>C,\N,\N,14/26,Unknown significance,\N,intron_variant,1.565,\N,\N,TCOF1
684728,5:149758324:C>T,NM_001135243.1:c.2341-144C>T,\N,\N,14/26,Unknown significance,\N,intron_variant,6.868,0.0008,1KG_AFR_AF,TCOF1
684729,5:149758347:C>T,NM_001135243.1:c.2341-121C>T,\N,\N,14/26,Unknown significance,\N,intron_variant,3.354,0.002,1KG_EAS_AF,TCOF1
684730,5:149758380:C>T,NM_001135243.1:c.2341-88C>T,\N,\N,14/26,Unknown significance,\N,intron_variant,1.938,0.001,1KG_SAS_AF,TCOF1
684731,5:149758387:C>T,NM_001135243.1:c.2341-81C>T,\N,\N,14/26,Unknown significance,\N,intron_variant,3.208,\N,\N,TCOF1
684732,5:149758401:G>A,NM_001135243.1:c.2341-67G>A,\N,\N,14/26,Unknown significance,\N,intron_variant,3.855,\N,\N,TCOF1
684733,5:149758427:A>G,NM_001135243.1:c.2341-41A>G,\N,\N,14/26,Unknown significance,\N,intron_variant,0.087,\N,\N,TCOF1
684734,5:149758436:T>C,NM_001135243.1:c.2341-32T>C,\N,\N,14/26,Unknown significance,\N,intron_variant,3.315,0.000116279,EVS_EA_AF,TCOF1
684735,5:149758439:C>T,NM_001135243.1:c.2341-29C>T,\N,\N,14/26,Unknown significance,\N,intron_variant,5.906,0.000579509,EXAC_EAS_AF,TCOF1
684736,5:149758451:C>T,NM_001135243.1:c.2341-17C>T,\N,\N,14/26,Unknown significance,\N,intron_variant,1.817,0.000231803,EXAC_EAS_AF,TCOF1
684737,5:149758466:A>G,NM_001135243.1:c.2341-2A>G,\N,\N,14/26,Pathogenic,Treacher-Collins syndrome,splice_acceptor_variant,22.9,\N,\N,TCOF1
684738,5:149758466:AG>A,NM_001135243.1:c.2341del,NP_001128715.1:p.Val781Ter,\N,14/26,Pathogenic,Treacher-Collins syndrome,splice_acceptor_variant,23.2,\N,\N,TCOF1
684739,5:149758477:T>C,NM_001135243.1:c.2350T>C,NP_001128715.1:p.Ser784Pro,15/27,\N,Likely benign,\N,missense_variant,3.826,0.000030077,EXAC_NFE_AF,TCOF1
684740,5:149758478:C>T,NM_001135243.1:c.2351C>T,NP_001128715.1:p.Ser784Leu,15/27,\N,Likely benign,\N,missense_variant,15.41,\N,\N,TCOF1
684741,5:149758480:G>A,NM_001135243.1:c.2353G>A,NP_001128715.1:p.Val785Ile,15/27,\N,Unknown significance,\N,missense_variant,22.6,0.0000865501,EXAC_AMR_AF,TCOF1
684742,5:149758491:C>T,NM_001135243.1:c.2364C>T,NP_001128715.1:p.Thr788=,15/27,\N,Unknown significance,\N,synonymous_variant,10.6,0.001,1KG_EAS_AF,TCOF1
684743,5:149758501:G>C,NM_001135243.1:c.2374G>C,NP_001128715.1:p.Ala792Pro,15/27,\N,Unknown significance,\N,missense_variant,27.1,\N,\N,TCOF1
684744,5:149758509:A>C,NM_001135243.1:c.2382A>C,NP_001128715.1:p.Pro794=,15/27,\N,Unknown significance,\N,synonymous_variant,4.839,0.0000600583,EXAC_NFE_AF,TCOF1
684745,5:149758515:C>T,NM_001135243.1:c.2388C>T,NP_001128715.1:p.Ala796=,15/27,\N,Unknown significance,\N,synonymous_variant,17.79,0.001,1KG_EAS_AF,TCOF1
684746,5:149758516:G>A,NM_001135243.1:c.2389G>A,NP_001128715.1:p.Ala797Thr,15/27,\N,Likely benign,\N,missense_variant,0.01,0.0000150092,EXAC_NFE_AF,TCOF1
684747,5:149758516:G>C,NM_001135243.1:c.2389G>C,NP_001128715.1:p.Ala797Pro,15/27,\N,Likely benign,\N,missense_variant,4.857,0.00011566,EXAC_EAS_AF,TCOF1
684748,5:149758522:G>T,NM_001135243.1:c.2395G>T,NP_001128715.1:p.Ala799Ser,15/27,\N,Likely benign,\N,missense_variant,18.21,0.000518672,EXAC_AMR_AF,TCOF1
684749,5:149758525:C>A,NM_001135243.1:c.2398C>A,NP_001128715.1:p.Pro800Thr,15/27,\N,Likely benign,\N,missense_variant,0.963,0.0000150006,EXAC_NFE_AF,TCOF1
684750,5:149758541:C>T,NM_001008657.2:c.2414C>T,NP_001008657.1:p.Thr805Ile,15/18,\N,Likely benign,\N,missense_variant,21,0.0000149961,EXAC_NFE_AF,TCOF1
684751,5:149758543:A>C,NM_001135243.1:c.2416A>C,NP_001128715.1:p.Ile806Leu,15/27,\N,Likely benign,\N,missense_variant,5.749,0.000231214,EXAC_EAS_AF,TCOF1
684752,5:149758545:T>G,NM_001135243.1:c.2418T>G,NP_001128715.1:p.Ile806Met,15/27,\N,Likely benign,\N,missense_variant,4.061,0.000226963,EVS_AA_AF,TCOF1
684753,5:149758549:GC>G,NM_001135243.1:c.2426del,NP_001128715.1:p.Pro809LeufsTer19,15/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,28.3,\N,\N,TCOF1
684754,5:149758551:C>T,NM_001135243.1:c.2424C>T,NP_001128715.1:p.Ala808=,15/27,\N,Unknown significance,\N,synonymous_variant,12.79,0.0014,1KG_AMR_AF,TCOF1
684755,5:149758564:G>TT,NM_001135243.1:c.2437delinsTT,NP_001128715.1:p.Val813PhefsTer60,15/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,\N,\N,\N,TCOF1
684756,5:149758572:A>C,NM_001135243.1:c.2445A>C,NP_001128715.1:p.Ala815=,15/27,\N,Unknown significance,\N,synonymous_variant,0.671,0.00011558,EXAC_EAS_AF,TCOF1
684757,5:149758574:C>T,NM_001135243.1:c.2447C>T,NP_001128715.1:p.Ala816Val,15/27,\N,Likely benign,\N,missense_variant,7.845,0.000226963,EVS_AA_AF,TCOF1
684758,5:149758579:C>T,NM_001135243.1:c.2452C>T,NP_001128715.1:p.Gln818Ter,15/27,\N,Pathogenic,Treacher-Collins syndrome,stop_gained,36,\N,\N,TCOF1
684759,5:149758585:A>G,NM_001135243.1:c.2458A>G,NP_001128715.1:p.Lys820Glu,15/27,\N,Unknown significance,\N,missense_variant,21.5,0.0000863707,EXAC_AMR_AF,TCOF1
684760,5:149758595:CTCCA>C,NM_001135243.1:c.2473_2476del,NP_001128715.1:p.Ser825ArgfsTer2,15/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,25.7,\N,\N,TCOF1
684761,5:149758596:T>C,NM_001135243.1:c.2469T>C,NP_001128715.1:p.Ser823=,15/27,\N,Unknown significance,\N,synonymous_variant,0.048,0.000029994,EXAC_NFE_AF,TCOF1
684762,5:149758599:A>G,NM_001135243.1:c.2472A>G,NP_001128715.1:p.Pro824=,15/27,\N,Unknown significance,\N,synonymous_variant,5.407,0.0000149961,EXAC_NFE_AF,TCOF1
684763,5:149758605:G>A,NM_001135243.1:c.2478G>A,NP_001128715.1:p.Lys826=,15/27,\N,Pathogenic,Treacher-Collins syndrome,splice_region_variant&synonymous_variant,10.43,\N,\N,TCOF1
684764,5:149758610:G>C,NM_001135243.1:c.2478+5G>C,\N,\N,15/26,Pathogenic,Treacher-Collins syndrome,splice_region_variant&intron_variant,8.132,\N,\N,TCOF1
684765,5:149758612:G>A,NM_001135243.1:c.2478+7G>A,\N,\N,15/26,Unknown significance,\N,splice_region_variant&intron_variant,8.041,0.000226963,EVS_AA_AF,TCOF1
684766,5:149758634:G>A,NM_001135243.1:c.2478+29G>A,\N,\N,15/26,Unknown significance,\N,intron_variant,3.524,\N,\N,TCOF1
684767,5:149758638:AG>A,NM_001135243.1:c.2478+36del,\N,\N,15/26,Unknown significance,\N,intron_variant,2.074,0.0000150051,EXAC_NFE_AF,TCOF1
684768,5:149758639:G>A,NM_001135243.1:c.2478+34G>A,\N,\N,15/26,Unknown significance,\N,intron_variant,4.472,0.0000150056,EXAC_NFE_AF,TCOF1
684769,5:149758646:G>A,NM_001135243.1:c.2478+41G>A,\N,\N,15/26,Unknown significance,\N,intron_variant,3.219,0.0000150078,EXAC_NFE_AF,TCOF1
684770,5:149758652:G>A,NM_001135243.1:c.2478+47G>A,\N,\N,15/26,Unknown significance,\N,intron_variant,6.391,0.0000606355,EXAC_SAS_AF,TCOF1
684771,5:149758653:A>G,NM_001135243.1:c.2478+48A>G,\N,\N,15/26,Unknown significance,\N,intron_variant,7.352,0.000242542,EXAC_SAS_AF,TCOF1
684772,5:149758674:C>T,NM_001135243.1:c.2478+69C>T,\N,\N,15/26,Unknown significance,\N,intron_variant,5.855,0.001,1KG_EAS_AF,TCOF1
684773,5:149758691:G>A,NM_001135243.1:c.2478+86G>A,\N,\N,15/26,Unknown significance,\N,intron_variant,3.023,0.001,1KG_EAS_AF,TCOF1
684774,5:149758754:A>G,NM_001135243.1:c.2479-38A>G,\N,\N,15/26,Unknown significance,\N,intron_variant,4.701,\N,\N,TCOF1
684775,5:149758759:T>A,NM_001135243.1:c.2479-33T>A,\N,\N,15/26,Unknown significance,\N,intron_variant,6.112,0.0000149912,EXAC_NFE_AF,TCOF1
684776,5:149758764:C>G,NM_001135243.1:c.2479-28C>G,\N,\N,15/26,Unknown significance,\N,intron_variant,5.12,0.000074958,EXAC_NFE_AF,TCOF1
684777,5:149758766:A>G,NM_001135243.1:c.2479-26A>G,\N,\N,15/26,Unknown significance,\N,intron_variant,2.589,0.0000863856,EXAC_AMR_AF,TCOF1
684778,5:149758767:A>G,NM_001135243.1:c.2479-25A>G,\N,\N,15/26,Unknown significance,\N,intron_variant,6.037,0.000121124,EXAC_SAS_AF,TCOF1
684779,5:149758770:C>G,NM_001135243.1:c.2479-22C>G,\N,\N,15/26,Unknown significance,\N,intron_variant,4.961,0.0000149898,EXAC_NFE_AF,TCOF1
684780,5:149758772:A>G,NM_001135243.1:c.2479-20A>G,\N,\N,15/26,Unknown significance,\N,intron_variant,0.243,0.000060562,EXAC_SAS_AF,TCOF1
684781,5:149758778:C>G,NM_001135243.1:c.2479-14C>G,\N,\N,15/26,Unknown significance,\N,intron_variant,2.623,0.0000149894,EXAC_NFE_AF,TCOF1
684782,5:149758779:C>A,NM_001135243.1:c.2479-13C>A,\N,\N,15/26,Unknown significance,\N,intron_variant,7.474,0.000181686,EXAC_SAS_AF,TCOF1
684783,5:149758797:G>A,NM_001135243.1:c.2484G>A,NP_001128715.1:p.Lys828=,16/27,\N,Unknown significance,\N,synonymous_variant,8.65,0.000060562,EXAC_SAS_AF,TCOF1
684784,5:149758802:C>G,NM_001135243.1:c.2489C>G,NP_001128715.1:p.Pro830Arg,16/27,\N,Unknown significance,\N,missense_variant,7.511,0.000172741,EXAC_AMR_AF,TCOF1
684785,5:149758802:C>T,NM_001135243.1:c.2489C>T,NP_001128715.1:p.Pro830Leu,16/27,\N,Unknown significance,\N,missense_variant,11.56,0.0000149871,EXAC_NFE_AF,TCOF1
684786,5:149758802:CA>C,NM_001135243.1:c.2490del,NP_001128715.1:p.Val831Ter,16/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,18.56,\N,\N,TCOF1
684787,5:149758804:G>C,NM_001135243.1:c.2491G>C,NP_001128715.1:p.Val831Leu,16/27,\N,Likely benign,\N,missense_variant,5.664,0.0041,1KG_SAS_AF,TCOF1
684788,5:149758816:C>T,NM_001135243.1:c.2503C>T,NP_001128715.1:p.Gln835Ter,16/27,\N,Pathogenic,Treacher-Collins syndrome,stop_gained,37,\N,\N,TCOF1
684789,5:149758822:A>C,NM_000356.3:c.2278A>C,NP_000347.2:p.Ser760Arg,15/26,\N,Likely benign,\N,missense_variant,15.7,0.0000149876,EXAC_NFE_AF,TCOF1
684790,5:149758823:G>A,NM_001135243.1:c.2510G>A,NP_001128715.1:p.Ser837Asn,16/27,\N,Likely benign,\N,missense_variant,17.35,0.000192197,EXAC_AFR_AF,TCOF1
684791,5:149758828:G>A,NM_001135243.1:c.2515G>A,NP_001128715.1:p.Val839Ile,16/27,\N,Likely benign,\N,missense_variant,3.606,0.000465116,EVS_EA_AF,TCOF1
684792,5:149758835:C>T,NM_001135243.1:c.2522C>T,NP_001128715.1:p.Ala841Val,16/27,\N,Likely benign,\N,missense_variant,4.6,0.0000863707,EXAC_AMR_AF,TCOF1
684793,5:149758836:G>A,NM_001135243.1:c.2523G>A,NP_001128715.1:p.Ala841=,16/27,\N,Unknown significance,\N,synonymous_variant,11.07,0.001,1KG_EAS_AF,TCOF1
684794,5:149758837:AG>A,NM_001135243.1:c.2528del,NP_001128715.1:p.Gly843AlafsTer45,16/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,21.9,\N,\N,TCOF1
684795,5:149758838:G>C,NM_001008657.2:c.2525G>C,NP_001008657.1:p.Arg842Thr,16/18,\N,Likely benign,\N,missense_variant,15.59,0.000060562,EXAC_SAS_AF,TCOF1
684796,5:149758844:C>T,NM_001135243.1:c.2531C>T,NP_001128715.1:p.Pro844Leu,16/27,\N,Likely benign,\N,missense_variant,17.67,0.000060562,EXAC_SAS_AF,TCOF1
684797,5:149758852:G>T,NM_001135243.1:c.2539G>T,NP_001128715.1:p.Val847Leu,16/27,\N,Likely benign,\N,missense_variant,16.44,0.0000864006,EXAC_AMR_AF,TCOF1
684798,5:149758854:G>A,NM_001135243.1:c.2541G>A,NP_001128715.1:p.Val847=,16/27,\N,Unknown significance,\N,synonymous_variant,7.276,0.000151194,EXAC_FIN_AF,TCOF1
684799,5:149758870:G>T,NM_001135243.1:c.2557G>T,NP_001128715.1:p.Ala853Ser,16/27,\N,Unknown significance,\N,missense_variant,10.5,0.0000961538,EXAC_AFR_AF,TCOF1
684800,5:149758873:G>A,NM_001008657.2:c.2560G>A,NP_001008657.1:p.Val854Met,16/18,\N,Unknown significance,\N,missense_variant,22.3,0.0000299832,EXAC_NFE_AF,TCOF1
684801,5:149758875:G>A,NM_001135243.1:c.2562G>A,NP_001128715.1:p.Val854=,16/27,\N,Unknown significance,\N,synonymous_variant,7.421,0.0000149916,EXAC_NFE_AF,TCOF1
684802,5:149758879:A>G,NM_001135243.1:c.2566A>G,NP_001128715.1:p.Thr856Ala,16/27,\N,Likely benign,\N,missense_variant,0.001,0.0000299832,EXAC_NFE_AF,TCOF1
684803,5:149758881:A>G,NM_001135243.1:c.2568A>G,NP_001128715.1:p.Thr856=,16/27,\N,Unknown significance,\N,synonymous_variant,0.032,\N,\N,TCOF1
684804,5:149758887:T>C,NM_001135243.1:c.2574T>C,NP_001128715.1:p.Ala858=,16/27,\N,Unknown significance,\N,synonymous_variant,0.138,0.0000864155,EXAC_AMR_AF,TCOF1
684805,5:149758888:C>G,NM_001008657.2:c.2575C>G,NP_001008657.1:p.Gln859Glu,16/18,\N,Pathogenic,Deafness,missense_variant,0.755,0.00127109,EXAC_EAS_AF,TCOF1
684806,5:149758892:C>T,NM_000356.3:c.2348C>T,NP_000347.2:p.Ala783Val,15/26,\N,Likely benign,\N,missense_variant,9.331,0.000226963,EVS_AA_AF,TCOF1
684807,5:149758892:CCCAGACAGGG>C,NM_001135243.1:c.2585_2594del,NP_001128715.1:p.Thr862ArgfsTer23,16/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,34,\N,\N,TCOF1
684808,5:149758898:CAG>C,NM_001135243.1:c.2586_2587del,NP_001128715.1:p.Gly863AlafsTer9,16/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,28.3,\N,\N,TCOF1
684809,5:149758906:G>A,NM_000356.3:c.2362G>A,NP_000347.2:p.Glu788Lys,15/26,\N,Unknown significance,\N,missense_variant,24,0.000288684,EXAC_AFR_AF,TCOF1
684810,5:149758914:C>G,NM_000356.3:c.2370C>G,NP_000347.2:p.Asp790Glu,15/26,\N,Likely benign,\N,missense_variant,19.21,\N,\N,TCOF1
684811,5:149758917:AGG>A,NM_001135243.1:c.2606_2607del,NP_001128715.1:p.Gly869GlufsTer3,16/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,33,\N,\N,TCOF1
684812,5:149758918:G>C,NM_001008657.2:c.2605G>C,NP_001008657.1:p.Gly869Arg,16/18,\N,Unknown significance,\N,missense_variant,23.9,0.0000150015,EXAC_NFE_AF,TCOF1
684813,5:149758922:GCAGTGAGGAGGAGTCAGA>G,NM_001135243.1:c.2623_2640del,NP_001128715.1:p.Ser875_Glu880del,16/27,\N,Unknown significance,\N,inframe_deletion,21.3,\N,\N,TCOF1
684814,5:149758927:G>A,NM_001135243.1:c.2614G>A,NP_001128715.1:p.Glu872Lys,16/27,\N,Likely benign,\N,missense_variant,24.1,0.0000864304,EXAC_AMR_AF,TCOF1
684815,5:149758928:AG>A,NM_001135243.1:c.2617del,NP_001128715.1:p.Glu873ArgfsTer15,16/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,26.2,\N,\N,TCOF1
684816,5:149758930:G>T,NM_001135243.1:c.2617G>T,NP_001128715.1:p.Glu873Ter,16/27,\N,Pathogenic,Treacher-Collins syndrome,stop_gained,40,\N,\N,TCOF1
684817,5:149758937:CAG>C,NM_001135243.1:c.2626_2627del,NP_001128715.1:p.Asp876GlnfsTer2,16/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,35,\N,\N,TCOF1
684818,5:149758941:C>T,NM_001135243.1:c.2628C>T,NP_001128715.1:p.Asp876=,16/27,\N,Unknown significance,\N,synonymous_variant,14.08,0.000116279,EVS_EA_AF,TCOF1
684819,5:149758941:CAGTG>C,NM_001135243.1:c.2631_2634del,NP_001128715.1:p.Ser877ArgfsTer10,16/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,35,\N,\N,TCOF1
684820,5:149758943:G>A,NM_001135243.1:c.2630G>A,NP_001128715.1:p.Ser877Asn,16/27,\N,Unknown significance,\N,missense_variant,23.5,0.000116279,EVS_EA_AF,TCOF1
684821,5:149758944:TGAG>T,NM_001135243.1:c.2639_2641del,NP_001128715.1:p.Glu880del,16/27,\N,Unknown significance,\N,inframe_deletion,19.72,0.000259336,EXAC_AMR_AF,TCOF1
684822,5:149758951:G>A,NM_001135243.1:c.2638G>A,NP_001128715.1:p.Glu880Lys,16/27,\N,Unknown significance,\N,missense_variant,22.4,\N,\N,TCOF1
684823,5:149758952:A>T,NM_001135243.1:c.2639A>T,NP_001128715.1:p.Glu880Val,16/27,\N,Unknown significance,\N,missense_variant,23.3,0.0000864454,EXAC_AMR_AF,TCOF1
684824,5:149758954:G>T,NM_001135243.1:c.2641G>T,NP_001128715.1:p.Ala881Ser,16/27,\N,Likely benign,\N,missense_variant,0.004,\N,\N,TCOF1
684825,5:149758955:C>T,NM_001135243.1:c.2642C>T,NP_001128715.1:p.Ala881Val,16/27,\N,Likely benign,\N,missense_variant,13.09,0.000115554,EXAC_EAS_AF,TCOF1
684826,5:149758956:G>A,NM_001135243.1:c.2643G>A,NP_001128715.1:p.Ala881=,16/27,\N,Unknown significance,\N,synonymous_variant,11.41,0.000116279,EVS_EA_AF,TCOF1
684827,5:149758961:C>T,NM_001135243.1:c.2648C>T,NP_001128715.1:p.Thr883Met,16/27,\N,Likely benign,\N,missense_variant,5.09,0.0000864603,EXAC_AMR_AF,TCOF1
684828,5:149758962:G>A,NM_001135243.1:c.2649G>A,NP_001128715.1:p.Thr883=,16/27,\N,Unknown significance,\N,synonymous_variant,11.16,0.000115607,EXAC_EAS_AF,TCOF1
684829,5:149758967:C>A,NM_001135243.1:c.2654C>A,NP_001128715.1:p.Ala885Asp,16/27,\N,Unknown significance,\N,missense_variant,24.9,0.0000605914,EXAC_SAS_AF,TCOF1
684830,5:149758969:C>T,NM_001135243.1:c.2656C>T,NP_001128715.1:p.Gln886Ter,16/27,\N,Likely pathogenic,\N,stop_gained&splice_region_variant,38,\N,\N,TCOF1
684831,5:149758970:A>C,NM_001135243.1:c.2657A>C,NP_001128715.1:p.Gln886Pro,16/27,\N,Likely benign,\N,missense_variant&splice_region_variant,23,0.0000864603,EXAC_AMR_AF,TCOF1
684832,5:149758974:G>A,NM_001135243.1:c.2658+3G>A,\N,\N,16/26,Unknown significance,\N,splice_region_variant&intron_variant,8.422,0.000226963,EVS_AA_AF,TCOF1
684833,5:149758976:G>A,NM_001135243.1:c.2658+5G>A,\N,\N,16/26,Unknown significance,\N,splice_region_variant&intron_variant,7.157,\N,\N,TCOF1
684834,5:149758976:G>C,NM_001135243.1:c.2658+5G>C,\N,\N,16/26,Unknown significance,\N,splice_region_variant&intron_variant,5.049,0.0000150218,EXAC_NFE_AF,TCOF1
684835,5:149758976:G>T,NM_001135243.1:c.2658+5G>T,\N,\N,16/26,Unknown significance,\N,splice_region_variant&intron_variant,6.641,0.000115607,EXAC_EAS_AF,TCOF1
684836,5:149758980:G>A,NM_001135243.1:c.2658+9G>A,\N,\N,16/26,Unknown significance,\N,intron_variant,4.227,\N,\N,TCOF1
684837,5:149758991:G>T,NM_001135243.1:c.2658+20G>T,\N,\N,16/26,Unknown significance,\N,intron_variant,0.474,\N,\N,TCOF1
684838,5:149758992:A>T,NM_001135243.1:c.2658+21A>T,\N,\N,16/26,Unknown significance,\N,intron_variant,0.958,0.0000605694,EXAC_SAS_AF,TCOF1
684839,5:149759001:T>A,NM_001135243.1:c.2658+30T>A,\N,\N,16/26,Benign,\N,intron_variant,3.691,0.0104403,EVS_AA_AF,TCOF1
684840,5:149759004:A>G,NM_001135243.1:c.2658+33A>G,\N,\N,16/26,Unknown significance,\N,intron_variant,1.165,0.000259336,EXAC_AMR_AF,TCOF1
684841,5:149759009:A>G,NM_001135243.1:c.2658+38A>G,\N,\N,16/26,Unknown significance,\N,intron_variant,2.455,0.0000864155,EXAC_AMR_AF,TCOF1
684842,5:149759009:A>T,NM_001135243.1:c.2658+38A>T,\N,\N,16/26,Unknown significance,\N,intron_variant,1.305,0.0000150137,EXAC_NFE_AF,TCOF1
684843,5:149759011:G>A,NM_001135243.1:c.2658+40G>A,\N,\N,16/26,Unknown significance,\N,intron_variant,1.716,0.000693642,EXAC_EAS_AF,TCOF1
684844,5:149759019:T>G,NM_001135243.1:c.2658+48T>G,\N,\N,16/26,Unknown significance,\N,intron_variant,3.93,0.0000150096,EXAC_NFE_AF,TCOF1
684845,5:149759026:C>T,NM_001135243.1:c.2658+55C>T,\N,\N,16/26,Unknown significance,\N,intron_variant,4.76,0.001,1KG_EUR_AF,TCOF1
684846,5:149759045:C>T,NM_001135243.1:c.2659-50C>T,\N,\N,16/26,Unknown significance,\N,intron_variant,6.344,\N,\N,TCOF1
684847,5:149759050:G>A,NM_001135243.1:c.2659-45G>A,\N,\N,16/26,Unknown significance,\N,intron_variant,3.465,0.0000964134,EXAC_AFR_AF,TCOF1
684848,5:149759054:A>C,NM_001135243.1:c.2659-41A>C,\N,\N,16/26,Unknown significance,\N,intron_variant,3.253,0.0000601413,EXAC_NFE_AF,TCOF1
684849,5:149759063:GCTCT>G,NM_001135243.1:c.2659-28_2659-25del,\N,\N,16/26,Unknown significance,\N,intron_variant,7.372,\N,\N,TCOF1
684850,5:149759065:T>G,NM_001135243.1:c.2659-30T>G,\N,\N,16/26,Unknown significance,\N,intron_variant,7.026,0.000172771,EXAC_AMR_AF,TCOF1
684851,5:149759065:TCTCTC>T,NM_001135243.1:c.2659-24_2659-20del,\N,\N,16/26,Benign,\N,intron_variant,6.554,0.122,1KG_EAS_AF,TCOF1
684852,5:149759071:C>A,NM_001135243.1:c.2659-24C>A,\N,\N,16/26,Unknown significance,\N,intron_variant,6.41,\N,\N,TCOF1
684853,5:149759074:T>C,NM_001135243.1:c.2659-21T>C,\N,\N,16/26,Unknown significance,\N,intron_variant,2.695,\N,\N,TCOF1
684854,5:149759078:C>T,NM_001135243.1:c.2659-17C>T,\N,\N,16/26,Unknown significance,\N,intron_variant,2.375,0.000181686,EXAC_SAS_AF,TCOF1
684855,5:149759085:C>T,NM_001135243.1:c.2659-10C>T,\N,\N,16/26,Unknown significance,\N,intron_variant,6.467,0.000060562,EXAC_SAS_AF,TCOF1
684856,5:149759086:T>C,NM_001135243.1:c.2659-9T>C,\N,\N,16/26,Unknown significance,\N,intron_variant,6.088,0.0000150435,EXAC_NFE_AF,TCOF1
684857,5:149759093:A>C,NM_001135243.1:c.2659-2A>C,\N,\N,16/26,Pathogenic,Treacher-Collins syndrome,splice_acceptor_variant,21.8,\N,\N,TCOF1
684858,5:149759095:G>C,NM_001135243.1:c.2659G>C,NP_001128715.1:p.Val887Leu,17/27,\N,Likely benign,\N,missense_variant&splice_region_variant,0.784,0.0000451372,EXAC_NFE_AF,TCOF1
684859,5:149759096:T>C,NM_001135243.1:c.2660T>C,NP_001128715.1:p.Val887Ala,17/27,\N,Benign,\N,missense_variant&splice_region_variant,0.001,0.260777,EXAC_AFR_AF,TCOF1
684860,5:149759101:C>T,NM_001135243.1:c.2665C>T,NP_001128715.1:p.Pro889Ser,17/27,\N,Unknown significance,\N,missense_variant,20.7,0.000193461,EXAC_AFR_AF,TCOF1
684861,5:149759106:AG>A,NM_001135243.1:c.2673del,NP_001128715.1:p.Lys892ArgfsTer58,17/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,25.6,\N,\N,TCOF1
684862,5:149759108:G>A,NM_000356.3:c.2441G>A,NP_000347.2:p.Gly814Glu,16/26,\N,Likely benign,\N,missense_variant,5.941,0.000483933,EXAC_AFR_AF,TCOF1
684863,5:149759112:G>A,NM_001135243.1:c.2676G>A,NP_001128715.1:p.Lys892=,17/27,\N,Unknown significance,\N,synonymous_variant,9.676,0.0000451277,EXAC_NFE_AF,TCOF1
684864,5:149759114:C>T,NM_001135243.1:c.2678C>T,NP_001128715.1:p.Thr893Ile,17/27,\N,Unknown significance,\N,missense_variant,13.64,\N,\N,TCOF1
684865,5:149759119:C>T,NM_001135243.1:c.2683C>T,NP_001128715.1:p.Gln895Ter,17/27,\N,Pathogenic,Treacher-Collins syndrome,stop_gained,35,\N,\N,TCOF1
684866,5:149759121:G>A,NM_001135243.1:c.2685G>A,NP_001128715.1:p.Gln895=,17/27,\N,Unknown significance,\N,synonymous_variant,3.355,0.0000150394,EXAC_NFE_AF,TCOF1
684867,5:149759135:T>C,NM_001135243.1:c.2699T>C,NP_001128715.1:p.Leu900Ser,17/27,\N,Likely benign,\N,missense_variant,8.896,0.000096918,EXAC_AFR_AF,TCOF1
684868,5:149759137:GCTCCTGCCAAGGAGTCCCCCAGGAAAGGGGCTGCCCCAACAC>G,NM_001135243.1:c.2708_2749del,NP_001128715.1:p.Ala903_Pro916del,17/27,\N,Unknown significance,\N,inframe_deletion,17.02,\N,\N,TCOF1
684869,5:149759140:C>T,NM_001135243.1:c.2704C>T,NP_001128715.1:p.Pro902Ser,17/27,\N,Likely benign,\N,missense_variant,15.18,0.0000864006,EXAC_AMR_AF,TCOF1
684870,5:149759148:G>A,NM_001135243.1:c.2712G>A,NP_001128715.1:p.Lys904=,17/27,\N,Unknown significance,\N,synonymous_variant,12.89,0.000193723,EXAC_AFR_AF,TCOF1
684871,5:149759149:G>T,NM_001135243.1:c.2713G>T,NP_001128715.1:p.Glu905Ter,17/27,\N,Pathogenic,Treacher-Collins syndrome,stop_gained,41,\N,\N,TCOF1
684872,5:149759152:T>A,NM_001135243.1:c.2716T>A,NP_001128715.1:p.Ser906Thr,17/27,\N,Likely benign,\N,missense_variant,25.3,0.000115714,EXAC_EAS_AF,TCOF1
684873,5:149759152:TC>T,NM_001135243.1:c.2721del,NP_001128715.1:p.Arg908GlyfsTer42,17/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,30,\N,\N,TCOF1
684874,5:149759153:C>G,NM_001135243.1:c.2717C>G,NP_001128715.1:p.Ser906Cys,17/27,\N,Unknown significance,\N,missense_variant,24.6,0.0000300689,EXAC_NFE_AF,TCOF1
684875,5:149759154:C>G,NM_001135243.1:c.2718C>G,NP_001128715.1:p.Ser906=,17/27,\N,Unknown significance,\N,synonymous_variant,10.62,0.0000150335,EXAC_NFE_AF,TCOF1
684876,5:149759157:C>T,NM_001135243.1:c.2721C>T,NP_001128715.1:p.Pro907=,17/27,\N,Unknown significance,\N,synonymous_variant,10.69,0.000578436,EXAC_EAS_AF,TCOF1
684877,5:149759158:A>G,NM_001008657.2:c.2722A>G,NP_001008657.1:p.Arg908Gly,17/18,\N,Likely benign,\N,missense_variant,10.69,0.0000864006,EXAC_AMR_AF,TCOF1
684878,5:149759163:A>G,NM_001135243.1:c.2727A>G,NP_001128715.1:p.Lys909=,17/27,\N,Unknown significance,\N,synonymous_variant,5.538,0.000172801,EXAC_AMR_AF,TCOF1
684879,5:149759163:AG>A,NM_001135243.1:c.2731del,NP_001128715.1:p.Ala911LeufsTer39,17/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,27,\N,\N,TCOF1
684880,5:149759167:G>T,NM_001135243.1:c.2731G>T,NP_001128715.1:p.Ala911Ser,17/27,\N,Unknown significance,\N,missense_variant,21.2,0.00327035,EXAC_SAS_AF,TCOF1
684881,5:149759168:C>G,NM_001135243.1:c.2732C>G,NP_001128715.1:p.Ala911Gly,17/27,\N,Unknown significance,\N,missense_variant,23.8,0.00011566,EXAC_EAS_AF,TCOF1
684882,5:149759169:T>C,NM_001135243.1:c.2733T>C,NP_001128715.1:p.Ala911=,17/27,\N,Unknown significance,\N,synonymous_variant,5.81,0.00011566,EXAC_EAS_AF,TCOF1
684883,5:149759172:C>G,NM_001135243.1:c.2736C>G,NP_001128715.1:p.Ala912=,17/27,\N,Unknown significance,\N,synonymous_variant,9.817,0.0000967492,EXAC_AFR_AF,TCOF1
684884,5:149759173:C>G,NM_001135243.1:c.2737C>G,NP_001128715.1:p.Pro913Ala,17/27,\N,Likely benign,\N,missense_variant,0.012,0.000060562,EXAC_SAS_AF,TCOF1
684885,5:149759173:C>T,NM_001135243.1:c.2737C>T,NP_001128715.1:p.Pro913Ser,17/27,\N,Unknown significance,\N,missense_variant,7.194,\N,\N,TCOF1
684886,5:149759176:A>G,NM_001135243.1:c.2740A>G,NP_001128715.1:p.Thr914Ala,17/27,\N,Likely benign,\N,missense_variant,0.002,0.0000150376,EXAC_NFE_AF,TCOF1
684887,5:149759177:C>T,NM_001135243.1:c.2741C>T,NP_001128715.1:p.Thr914Ile,17/27,\N,Likely benign,\N,missense_variant,4.939,0.000386772,EXAC_AFR_AF,TCOF1
684888,5:149759179:C>T,NM_001008657.2:c.2743C>T,NP_001008657.1:p.Pro915Ser,17/18,\N,Likely benign,\N,missense_variant,19.75,\N,\N,TCOF1
684889,5:149759180:C>G,NM_001135243.1:c.2744C>G,NP_001128715.1:p.Pro915Arg,17/27,\N,Unknown significance,\N,missense_variant,23.4,0.0000300734,EXAC_NFE_AF,TCOF1
684890,5:149759182:C>T,NM_001135243.1:c.2746C>T,NP_001128715.1:p.Pro916Ser,17/27,\N,Likely benign,\N,missense_variant,19.14,0.000060562,EXAC_SAS_AF,TCOF1
684891,5:149759183:C>T,NM_001135243.1:c.2747C>T,NP_001128715.1:p.Pro916Leu,17/27,\N,Unknown significance,\N,missense_variant,24.4,0.000115714,EXAC_EAS_AF,TCOF1
684892,5:149759192:CAG>C,NM_001135243.1:c.2757_2758del,NP_001128715.1:p.Gly920AlafsTer11,17/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,25.8,\N,\N,TCOF1
684893,5:149759193:A>AG,NM_001135243.1:c.2760dup,NP_001128715.1:p.Pro921AlafsTer11,17/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,24.4,\N,\N,TCOF1
684894,5:149759194:G>A,NM_001135243.1:c.2758G>A,NP_001128715.1:p.Gly920Arg,17/27,\N,Unknown significance,\N,missense_variant,23,0.000226963,EVS_AA_AF,TCOF1
684895,5:149759194:G>GA,NM_001135243.1:c.2758_2759insA,NP_001128715.1:p.Gly920GlufsTer12,17/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,25,\N,\N,TCOF1
684896,5:149759198:C>T,NM_001135243.1:c.2762C>T,NP_001128715.1:p.Pro921Leu,17/27,\N,Benign,\N,missense_variant,24.4,0.0161353,EXAC_AFR_AF,TCOF1
684897,5:149759201:C>T,NM_001135243.1:c.2765C>T,NP_001128715.1:p.Ser922Leu,17/27,\N,Benign,\N,missense_variant,10.89,0.0787,1KG_AFR_AF,TCOF1
684898,5:149759202:G>A,NM_001135243.1:c.2766G>A,NP_001128715.1:p.Ser922=,17/27,\N,Unknown significance,\N,synonymous_variant,8.629,0.000232558,EVS_EA_AF,TCOF1
684899,5:149759206:G>A,NM_001135243.1:c.2770G>A,NP_001128715.1:p.Ala924Thr,17/27,\N,Likely benign,\N,missense_variant,0.001,0.000060562,EXAC_SAS_AF,TCOF1
684900,5:149759209:C>T,NM_001135243.1:c.2773C>T,NP_001128715.1:p.Gln925Ter,17/27,\N,Pathogenic,Treacher-Collins syndrome,stop_gained,35,\N,\N,TCOF1
684901,5:149759210:AG>A,NM_001135243.1:c.2776del,NP_001128715.1:p.Ala926GlnfsTer24,17/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,23.4,\N,\N,TCOF1
684902,5:149759212:G>A,NM_001135243.1:c.2776G>A,NP_001128715.1:p.Ala926Thr,17/27,\N,Unknown significance,\N,missense_variant,23.9,0.000015043,EXAC_NFE_AF,TCOF1
684903,5:149759212:G>C,NM_001135243.1:c.2776G>C,NP_001128715.1:p.Ala926Pro,17/27,\N,Unknown significance,\N,missense_variant,23.4,0.000015043,EXAC_NFE_AF,TCOF1
684904,5:149759214:A>G,NM_001135243.1:c.2778A>G,NP_001128715.1:p.Ala926=,17/27,\N,Unknown significance,\N,synonymous_variant,4.902,\N,\N,TCOF1
684905,5:149759217:G>A,NM_001135243.1:c.2781G>A,NP_001128715.1:p.Gly927=,17/27,\N,Unknown significance,\N,synonymous_variant,3.946,0.000462856,EXAC_EAS_AF,TCOF1
684906,5:149759219:A>G,NM_001135243.1:c.2783A>G,NP_001128715.1:p.Lys928Arg,17/27,\N,Likely benign,\N,missense_variant,0.095,0.000518672,EXAC_AMR_AF,TCOF1
684907,5:149759219:AGCAGGATGA>GCAGGATG,NM_001135243.1:c.2783_2792delinsGCAGGATG,NP_001128715.1:p.Lys928SerfsTer14,17/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,\N,\N,\N,TCOF1
684908,5:149759231:CAG>C,NM_001135243.1:c.2796_2797del,NP_001128715.1:p.Gly933GlufsTer9,17/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,33,\N,\N,TCOF1
684909,5:149759234:G>A,NM_001135243.1:c.2798G>A,NP_001128715.1:p.Gly933Glu,17/27,\N,Likely benign,\N,missense_variant,15.74,0.0000150453,EXAC_NFE_AF,TCOF1
684910,5:149759245:G>A,NM_001008657.2:c.2809G>A,NP_001008657.1:p.Glu937Lys,17/18,\N,Unknown significance,\N,missense_variant,24.3,0.000226963,EVS_AA_AF,TCOF1
684911,5:149759249:A>T,NM_001135243.1:c.2813A>T,NP_001128715.1:p.Glu938Val,17/27,\N,Unknown significance,\N,missense_variant,24.1,0.0000150689,EXAC_NFE_AF,TCOF1
684912,5:149759253:A>T,NM_001135243.1:c.2817A>T,NP_001128715.1:p.Ser939=,17/27,\N,Unknown significance,\N,synonymous_variant,0.015,0.0000150825,EXAC_NFE_AF,TCOF1
684913,5:149759264:G>A,NM_001135243.1:c.2828G>A,NP_001128715.1:p.Gly943Glu,17/27,\N,Likely benign,\N,missense_variant,7.344,0.000350816,EXAC_AMR_AF,TCOF1
684914,5:149759266:GA>G,NM_001135243.1:c.2831del,NP_001128715.1:p.Glu944GlyfsTer6,17/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,24.9,\N,\N,TCOF1
684915,5:149759267:AGGCACCGGCAGCT>A,NM_001135243.1:c.2833_2845del,NP_001128715.1:p.Ala945Ter,17/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,29.3,\N,\N,TCOF1
684916,5:149759270:C>T,NM_001135243.1:c.2834C>T,NP_001128715.1:p.Ala945Val,17/27,\N,Likely benign,\N,missense_variant,16.93,0.0000153008,EXAC_NFE_AF,TCOF1
684917,5:149759272:C>T,NM_001135243.1:c.2836C>T,NP_001128715.1:p.Pro946Ser,17/27,\N,Unknown significance,\N,missense_variant,10.22,0.001,1KG_EAS_AF,TCOF1
684918,5:149759274:G>A,NM_001135243.1:c.2838G>A,NP_001128715.1:p.Pro946=,17/27,\N,Unknown significance,\N,synonymous_variant,6.893,0.0000308499,EXAC_NFE_AF,TCOF1
684919,5:149759278:G>T,NM_001135243.1:c.2842G>T,NP_001128715.1:p.Ala948Ser,17/27,\N,Benign,\N,missense_variant,16.81,0.0159981,EXAC_EAS_AF,TCOF1
684920,5:149759288:C>CT,NM_001135243.1:c.2853dup,NP_001128715.1:p.Ala952CysfsTer5,17/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,28.8,\N,\N,TCOF1
684921,5:149759290:G>T,NM_000356.3:c.2623G>T,NP_000347.2:p.Ala875Ser,16/26,\N,Unknown significance,\N,missense_variant,20.1,0.000116279,EVS_EA_AF,TCOF1
684922,5:149759296:G>C,NM_001135243.1:c.2859+1G>C,\N,\N,17/26,Unknown significance,\N,splice_donor_variant,22.8,0.000016518,EXAC_NFE_AF,TCOF1
684923,5:149759302:C>CT,NM_001135243.1:c.2859+9dup,\N,\N,17/26,Unknown significance,\N,splice_region_variant&intron_variant,8.759,0.000130124,EXAC_SAS_AF,TCOF1
684924,5:149759303:T>TAAGCTGAAGAAAACCTTAAACAACAAGTATC,NM_001135243.1:c.2859+8_2859+9insAAGCTGAAGAAAACCTTAAACAACAAGTATC,\N,\N,17/26,Unknown significance,\N,intron_variant,0.235,\N,\N,TCOF1
684925,5:149759305:G>A,NM_001135243.1:c.2859+10G>A,\N,\N,17/26,Unknown significance,\N,intron_variant,2.619,0.0000171116,EXAC_NFE_AF,TCOF1
684926,5:149759306:C>A,NM_001135243.1:c.2859+11C>A,\N,\N,17/26,Unknown significance,\N,intron_variant,5.392,0.0000172652,EXAC_NFE_AF,TCOF1
684927,5:149759310:G>A,NM_001135243.1:c.2859+15G>A,\N,\N,17/26,Unknown significance,\N,intron_variant,6.48,0.000132503,EXAC_SAS_AF,TCOF1
684928,5:149759314:C>T,NM_001135243.1:c.2859+19C>T,\N,\N,17/26,Unknown significance,\N,intron_variant,4.364,\N,\N,TCOF1
684929,5:149759316:G>A,NM_001135243.1:c.2859+21G>A,\N,\N,17/26,Unknown significance,\N,intron_variant,3.279,0.000668271,EXAC_SAS_AF,TCOF1
684930,5:149759319:C>T,NM_001135243.1:c.2859+24C>T,\N,\N,17/26,Unknown significance,\N,intron_variant,6.12,\N,\N,TCOF1
684931,5:149759321:A>G,NM_001135243.1:c.2859+26A>G,\N,\N,17/26,Likely benign,Treacher collins syndrome 1,intron_variant,7.404,0.00220569,EXAC_NFE_AF,TCOF1
684932,5:149759326:C>T,NM_001135243.1:c.2859+31C>T,\N,\N,17/26,Unknown significance,\N,intron_variant,4.085,0.0000679995,EXAC_SAS_AF,TCOF1
684933,5:149759328:C>G,NM_001135243.1:c.2859+33C>G,\N,\N,17/26,Unknown significance,\N,intron_variant,3.661,0.0015,1KG_AFR_AF,TCOF1
684934,5:149759337:C>T,NM_001135243.1:c.2859+42C>T,\N,\N,17/26,Unknown significance,\N,intron_variant,7.325,0.0000197589,EXAC_NFE_AF,TCOF1
684935,5:149759342:C>T,NM_001135243.1:c.2859+47C>T,\N,\N,17/26,Unknown significance,\N,intron_variant,4.477,0.00193852,EXAC_AFR_AF,TCOF1
684936,5:149759344:G>A,NM_001135243.1:c.2859+49G>A,\N,\N,17/26,Benign,\N,intron_variant,2.992,0.0507,1KG_AFR_AF,TCOF1
684937,5:149759345:G>C,NM_001135243.1:c.2859+50G>C,\N,\N,17/26,Unknown significance,\N,intron_variant,2.144,0.00152905,EXAC_OTH_AF,TCOF1
684938,5:149759347:G>GTAT,NM_001135243.1:c.2859+53_2859+55dup,\N,\N,17/26,Unknown significance,\N,intron_variant,1.796,0.000021462,EXAC_NFE_AF,TCOF1
684939,5:149759347:G>T,NM_001135243.1:c.2859+52G>T,\N,\N,17/26,Unknown significance,\N,intron_variant,1.224,0.000600936,EXAC_NFE_AF,TCOF1
684940,5:149759352:G>C,NM_001135243.1:c.2859+57G>C,\N,\N,17/26,Unknown significance,\N,intron_variant,0.448,0.0008,1KG_AFR_AF,TCOF1
684941,5:149759364:G>C,NM_001135243.1:c.2859+69G>C,\N,\N,17/26,Unknown significance,\N,intron_variant,0.624,\N,\N,TCOF1
684942,5:149759389:C>G,NM_001135243.1:c.2859+94C>G,\N,\N,17/26,Unknown significance,\N,intron_variant,1.771,0.0008,1KG_AFR_AF,TCOF1
684943,5:149759394:G>A,NM_001135243.1:c.2859+99G>A,\N,\N,17/26,Unknown significance,\N,intron_variant,1.18,0.002,1KG_SAS_AF,TCOF1
684944,5:149759398:G>C,NM_001135243.1:c.2859+103G>C,\N,\N,17/26,Unknown significance,\N,intron_variant,0.678,\N,\N,TCOF1
684945,5:149759412:A>G,NM_001135243.1:c.2859+117A>G,\N,\N,17/26,Unknown significance,\N,intron_variant,2.827,0.0015,1KG_AFR_AF,TCOF1
684946,5:149759429:G>A,NM_001135243.1:c.2859+134G>A,\N,\N,17/26,Unknown significance,\N,intron_variant,2.182,\N,\N,TCOF1
684947,5:149759464:G>A,NM_001135243.1:c.2859+169G>A,\N,\N,17/26,Benign,\N,intron_variant,0.129,0.124,1KG_EAS_AF,TCOF1
684948,5:149759512:G>A,NM_001135243.1:c.2859+217G>A,\N,\N,17/26,Unknown significance,\N,intron_variant,7.39,0.0023,1KG_AFR_AF,TCOF1
684949,5:149759562:G>T,NM_001135243.1:c.2859+267G>T,\N,\N,17/26,Unknown significance,\N,intron_variant,0.36,\N,\N,TCOF1
684950,5:149759579:A>C,NM_001135243.1:c.2859+284A>C,\N,\N,17/26,Unknown significance,\N,intron_variant,0.434,0.0008,1KG_AFR_AF,TCOF1
684951,5:149759633:C>A,NM_001135243.1:c.2859+338C>A,\N,\N,17/26,Unknown significance,\N,intron_variant,3.916,\N,\N,TCOF1
684952,5:149759643:A>AAAG,NM_001135243.1:c.2859+350_2859+351insGAA,\N,\N,17/26,Benign,\N,intron_variant,0.064,0.0113,1KG_AFR_AF,TCOF1
684953,5:149759653:A>T,NM_001135243.1:c.2859+358A>T,\N,\N,17/26,Unknown significance,\N,intron_variant,0.372,\N,\N,TCOF1
684954,5:149759655:A>T,NM_001135243.1:c.2859+360A>T,\N,\N,17/26,Unknown significance,\N,intron_variant,0.077,0.0008,1KG_AFR_AF,TCOF1
684955,5:149759682:G>T,NM_001135243.1:c.2859+387G>T,\N,\N,17/26,Unknown significance,\N,intron_variant,5.529,0.001,1KG_EAS_AF,TCOF1
684956,5:149759689:T>C,NM_001135243.1:c.2859+394T>C,\N,\N,17/26,Unknown significance,\N,intron_variant,7.135,0.0014,1KG_AMR_AF,TCOF1
684957,5:149759692:G>A,NM_001135243.1:c.2859+397G>A,\N,\N,17/26,Unknown significance,\N,intron_variant,7.952,0.0008,1KG_AFR_AF,TCOF1
684958,5:149759698:G>A,NM_001135243.1:c.2859+403G>A,\N,\N,17/26,Unknown significance,\N,intron_variant,5.278,\N,\N,TCOF1
684959,5:149759732:T>C,NM_001135243.1:c.2859+437T>C,\N,\N,17/26,Benign,\N,intron_variant,1.602,1,1KG_AFR_AF|1KG_AMR_AF|1KG_EAS_AF|1KG_SAS_AF,TCOF1
684960,5:149759760:C>T,NM_001135243.1:c.2859+465C>T,\N,\N,17/26,Unknown significance,\N,intron_variant,12.55,\N,\N,TCOF1
684961,5:149759788:T>C,NM_001135243.1:c.2859+493T>C,\N,\N,17/26,Benign,\N,intron_variant,4.824,0.0317,1KG_EAS_AF,TCOF1
684962,5:149759797:C>T,NM_001135243.1:c.2859+502C>T,\N,\N,17/26,Unknown significance,\N,intron_variant,0.387,0.001,1KG_EUR_AF,TCOF1
684963,5:149759805:C>T,NM_001135243.1:c.2859+510C>T,\N,\N,17/26,Unknown significance,\N,intron_variant,5.007,\N,\N,TCOF1
684964,5:149759813:TC>T,NM_001135243.1:c.2859+520del,\N,\N,17/26,Unknown significance,\N,intron_variant,3.083,0.0043,1KG_AMR_AF,TCOF1
684965,5:149759816:G>A,NM_001135243.1:c.2859+521G>A,\N,\N,17/26,Unknown significance,\N,intron_variant,1.809,0.001,1KG_SAS_AF,TCOF1
684966,5:149759816:G>C,NM_001135243.1:c.2859+521G>C,\N,\N,17/26,Unknown significance,\N,intron_variant,0.466,\N,\N,TCOF1
684967,5:149759820:C>G,NM_001135243.1:c.2859+525C>G,\N,\N,17/26,Unknown significance,\N,intron_variant,1.888,\N,\N,TCOF1
684968,5:149759831:C>T,NM_001135243.1:c.2859+536C>T,\N,\N,17/26,Unknown significance,\N,intron_variant,4.188,0.0008,1KG_AFR_AF,TCOF1
684969,5:149759838:T>C,NM_001135243.1:c.2859+543T>C,\N,\N,17/26,Unknown significance,\N,intron_variant,3.81,0.0014,1KG_AMR_AF,TCOF1
684970,5:149759840:T>C,NM_001135243.1:c.2859+545T>C,\N,\N,17/26,Unknown significance,\N,intron_variant,0.311,\N,\N,TCOF1
684971,5:149759861:C>A,NM_001135243.1:c.2859+566C>A,\N,\N,17/26,Unknown significance,\N,intron_variant,6.798,\N,\N,TCOF1
684972,5:149759877:G>C,NM_001135243.1:c.2859+582G>C,\N,\N,17/26,Unknown significance,\N,intron_variant,1.266,0.001,1KG_EAS_AF,TCOF1
684973,5:149759900:A>G,NM_001135243.1:c.2859+605A>G,\N,\N,17/26,Benign,\N,intron_variant,0.46,0.0234,1KG_AFR_AF,TCOF1
684974,5:149759914:C>T,NM_001135243.1:c.2859+619C>T,\N,\N,17/26,Unknown significance,\N,intron_variant,4.331,0.0014,1KG_AMR_AF,TCOF1
684975,5:149759934:A>G,NM_001135243.1:c.2859+639A>G,\N,\N,17/26,Unknown significance,\N,intron_variant,3.43,\N,\N,TCOF1
684976,5:149759960:C>T,NM_001135243.1:c.2859+665C>T,\N,\N,17/26,Benign,\N,intron_variant,3.036,0.0242,1KG_AFR_AF,TCOF1
684977,5:149760003:C>T,NM_001135243.1:c.2859+708C>T,\N,\N,17/26,Unknown significance,\N,intron_variant,1.836,0.0008,1KG_AFR_AF,TCOF1
684978,5:149760010:A>C,NM_001135243.1:c.2859+715A>C,\N,\N,17/26,Unknown significance,\N,intron_variant,2.508,\N,\N,TCOF1
684979,5:149760052:C>G,NM_001135243.1:c.2859+757C>G,\N,\N,17/26,Unknown significance,\N,intron_variant,4.511,0.0014,1KG_AMR_AF,TCOF1
684980,5:149760053:C>T,NM_001135243.1:c.2859+758C>T,\N,\N,17/26,Unknown significance,\N,intron_variant,2.509,0.0008,1KG_AFR_AF,TCOF1
684981,5:149760073:C>T,NM_001135243.1:c.2859+778C>T,\N,\N,17/26,Unknown significance,\N,intron_variant,2.936,0.001,1KG_SAS_AF,TCOF1
684982,5:149760074:G>A,NM_001135243.1:c.2859+779G>A,\N,\N,17/26,Unknown significance,\N,intron_variant,3.276,0.001,1KG_EAS_AF|1KG_EUR_AF,TCOF1
684983,5:149760099:A>G,NM_001135243.1:c.2859+804A>G,\N,\N,17/26,Unknown significance,\N,intron_variant,5.437,0.001,1KG_SAS_AF,TCOF1
684984,5:149760123:G>A,NM_001135243.1:c.2859+828G>A,\N,\N,17/26,Unknown significance,\N,intron_variant,4.326,\N,\N,TCOF1
684985,5:149760129:T>G,NM_001135243.1:c.2859+834T>G,\N,\N,17/26,Unknown significance,\N,intron_variant,4.8,\N,\N,TCOF1
684986,5:149760188:G>A,NM_001135243.1:c.2859+893G>A,\N,\N,17/26,Unknown significance,\N,intron_variant,1.822,\N,\N,TCOF1
684987,5:149760217:A>G,NM_001135243.1:c.2859+922A>G,\N,\N,17/26,Unknown significance,\N,intron_variant,1.646,0.0023,1KG_AFR_AF,TCOF1
684988,5:149760289:C>T,NM_001135243.1:c.2859+994C>T,\N,\N,17/26,Unknown significance,\N,intron_variant,4.676,\N,\N,TCOF1
684989,5:149760295:G>T,NM_001135243.1:c.2859+1000G>T,\N,\N,17/26,Unknown significance,\N,intron_variant,1.273,\N,\N,TCOF1
684990,5:149760299:C>T,NM_001135243.1:c.2859+1004C>T,\N,\N,17/26,Unknown significance,\N,intron_variant,2.444,0.0031,1KG_SAS_AF,TCOF1
684991,5:149760318:T>TC,NM_001135243.1:c.2859+1026dup,\N,\N,17/26,Unknown significance,\N,intron_variant,\N,\N,\N,TCOF1
684992,5:149760347:G>A,NM_001135243.1:c.2859+1052G>A,\N,\N,17/26,Benign,\N,intron_variant,0.06,0.0053,1KG_AFR_AF,TCOF1
684993,5:149760359:C>T,NM_001135243.1:c.2859+1064C>T,\N,\N,17/26,Unknown significance,\N,intron_variant,4.408,\N,\N,TCOF1
684994,5:149760404:T>C,NM_001135243.1:c.2859+1109T>C,\N,\N,17/26,Unknown significance,\N,intron_variant,8.51,0.0008,1KG_AFR_AF,TCOF1
684995,5:149760433:G>A,NM_001135243.1:c.2859+1138G>A,\N,\N,17/26,Unknown significance,\N,intron_variant,0.047,\N,\N,TCOF1
684996,5:149760439:G>A,NM_001135243.1:c.2859+1144G>A,\N,\N,17/26,Unknown significance,\N,intron_variant,2.315,0.0008,1KG_AFR_AF,TCOF1
684997,5:149760457:A>G,NM_001135243.1:c.2859+1162A>G,\N,\N,17/26,Benign,\N,intron_variant,2.815,0.0061,1KG_AFR_AF,TCOF1
684998,5:149760462:C>T,NM_001135243.1:c.2859+1167C>T,\N,\N,17/26,Unknown significance,\N,intron_variant,1.527,\N,\N,TCOF1
684999,5:149760486:C>G,NM_001135243.1:c.2859+1191C>G,\N,\N,17/26,Unknown significance,\N,intron_variant,0.634,0.001,1KG_SAS_AF,TCOF1
685000,5:149760487:G>A,NM_001135243.1:c.2859+1192G>A,\N,\N,17/26,Unknown significance,\N,intron_variant,0.454,0.001,1KG_EAS_AF,TCOF1
685001,5:149760490:T>G,NM_001135243.1:c.2859+1195T>G,\N,\N,17/26,Unknown significance,\N,intron_variant,3.76,\N,\N,TCOF1
685002,5:149760499:G>A,NM_001135243.1:c.2859+1204G>A,\N,\N,17/26,Benign,\N,intron_variant,0.34,0.1293,1KG_AFR_AF,TCOF1
685003,5:149760527:A>G,NM_001135243.1:c.2859+1232A>G,\N,\N,17/26,Unknown significance,\N,intron_variant,0.189,\N,\N,TCOF1
685004,5:149760530:C>A,NM_001135243.1:c.2859+1235C>A,\N,\N,17/26,Unknown significance,\N,intron_variant,2.859,\N,\N,TCOF1
685005,5:149760582:T>TA,NM_001135243.1:c.2859+1295dup,\N,\N,17/26,Benign,\N,intron_variant,0.959,0.0166,1KG_AFR_AF,TCOF1
685006,5:149760589:A>G,NM_001135243.1:c.2859+1294A>G,\N,\N,17/26,Unknown significance,\N,intron_variant,1.508,0.0008,1KG_AFR_AF,TCOF1
685007,5:149760594:A>T,NM_001135243.1:c.2859+1299A>T,\N,\N,17/26,Unknown significance,\N,intron_variant,0.833,0.001,1KG_EUR_AF,TCOF1
685008,5:149760636:G>T,NM_001135243.1:c.2859+1341G>T,\N,\N,17/26,Unknown significance,\N,intron_variant,0.785,0.003,1KG_AFR_AF,TCOF1
685009,5:149760640:A>T,NM_001135243.1:c.2859+1345A>T,\N,\N,17/26,Unknown significance,\N,intron_variant,2.699,0.0045,1KG_AFR_AF,TCOF1
685010,5:149760645:G>A,NM_001135243.1:c.2859+1350G>A,\N,\N,17/26,Unknown significance,\N,intron_variant,1.586,\N,\N,TCOF1
685011,5:149760646:G>T,NM_001135243.1:c.2859+1351G>T,\N,\N,17/26,Unknown significance,\N,intron_variant,0.426,0.003,1KG_AFR_AF,TCOF1
685012,5:149760669:G>A,NM_001135243.1:c.2859+1374G>A,\N,\N,17/26,Unknown significance,\N,intron_variant,1.729,0.001,1KG_EAS_AF,TCOF1
685013,5:149760712:G>A,NM_001135243.1:c.2859+1417G>A,\N,\N,17/26,Unknown significance,\N,intron_variant,1.176,0.001,1KG_SAS_AF,TCOF1
685014,5:149760732:C>A,NM_001135243.1:c.2859+1437C>A,\N,\N,17/26,Unknown significance,\N,intron_variant,9.601,0.0045,1KG_AFR_AF,TCOF1
685015,5:149760771:G>A,NM_001135243.1:c.2859+1476G>A,\N,\N,17/26,Unknown significance,\N,intron_variant,8.905,0.001,1KG_SAS_AF,TCOF1
685016,5:149760792:G>A,NM_001135243.1:c.2859+1497G>A,\N,\N,17/26,Unknown significance,\N,intron_variant,12.2,\N,\N,TCOF1
685017,5:149760811:T>G,NM_001135243.1:c.2859+1516T>G,\N,\N,17/26,Unknown significance,\N,intron_variant,13.04,\N,\N,TCOF1
685018,5:149760816:C>T,NM_001135243.1:c.2859+1521C>T,\N,\N,17/26,Unknown significance,\N,intron_variant,9.679,\N,\N,TCOF1
685019,5:149760823:T>C,NM_001135243.1:c.2859+1528T>C,\N,\N,17/26,Benign,\N,intron_variant,0.261,0.2534,1KG_AFR_AF,TCOF1
685020,5:149760930:G>A,NM_001135243.1:c.2859+1635G>A,\N,\N,17/26,Unknown significance,\N,intron_variant,5.274,\N,\N,TCOF1
685021,5:149760932:C>T,NM_001135243.1:c.2859+1637C>T,\N,\N,17/26,Unknown significance,\N,intron_variant,6.194,0.001,1KG_EAS_AF,TCOF1
685022,5:149760936:A>C,NM_001135243.1:c.2859+1641A>C,\N,\N,17/26,Unknown significance,\N,intron_variant,3.416,0.001,1KG_EAS_AF,TCOF1
685023,5:149760938:A>G,NM_001135243.1:c.2859+1643A>G,\N,\N,17/26,Unknown significance,\N,intron_variant,5.409,0.001,1KG_EUR_AF,TCOF1
685024,5:149760945:C>T,NM_001135243.1:c.2859+1650C>T,\N,\N,17/26,Unknown significance,\N,intron_variant,1.848,\N,\N,TCOF1
685025,5:149760953:C>T,NM_001135243.1:c.2859+1658C>T,\N,\N,17/26,Benign,\N,intron_variant,3.171,0.0061,1KG_AFR_AF,TCOF1
685026,5:149760954:G>A,NM_001135243.1:c.2859+1659G>A,\N,\N,17/26,Benign,\N,intron_variant,1.09,0.1888,1KG_AMR_AF,TCOF1
685027,5:149760963:G>C,NM_001135243.1:c.2859+1668G>C,\N,\N,17/26,Unknown significance,\N,intron_variant,1.553,\N,\N,TCOF1
685028,5:149760982:G>C,NM_001135243.1:c.2859+1687G>C,\N,\N,17/26,Unknown significance,\N,intron_variant,4.48,\N,\N,TCOF1
685029,5:149760999:A>G,NM_001135243.1:c.2859+1704A>G,\N,\N,17/26,Unknown significance,\N,intron_variant,2.345,0.001,1KG_EUR_AF,TCOF1
685030,5:149761024:T>C,NM_001135243.1:c.2859+1729T>C,\N,\N,17/26,Unknown significance,\N,intron_variant,3.064,\N,\N,TCOF1
685031,5:149761070:C>T,NM_001135243.1:c.2859+1775C>T,\N,\N,17/26,Benign,\N,intron_variant,1.799,0.006,1KG_EUR_AF,TCOF1
685032,5:149761088:G>C,NM_001135243.1:c.2859+1793G>C,\N,\N,17/26,Benign,\N,intron_variant,0.444,0.0098,1KG_AFR_AF,TCOF1
685033,5:149761101:G>A,NM_001135243.1:c.2859+1806G>A,\N,\N,17/26,Unknown significance,\N,intron_variant,4.283,\N,\N,TCOF1
685034,5:149761106:T>C,NM_001135243.1:c.2859+1811T>C,\N,\N,17/26,Unknown significance,\N,intron_variant,2.872,\N,\N,TCOF1
685035,5:149761122:C>T,NM_001135243.1:c.2859+1827C>T,\N,\N,17/26,Unknown significance,\N,intron_variant,5.3,0.001,1KG_SAS_AF,TCOF1
685036,5:149761135:C>T,NM_001135243.1:c.2859+1840C>T,\N,\N,17/26,Unknown significance,\N,intron_variant,1.297,\N,\N,TCOF1
685037,5:149761145:C>T,NM_001135243.1:c.2859+1850C>T,\N,\N,17/26,Unknown significance,\N,intron_variant,7.328,\N,\N,TCOF1
685038,5:149761155:T>C,NM_001135243.1:c.2859+1860T>C,\N,\N,17/26,Unknown significance,\N,intron_variant,11.05,0.001,1KG_SAS_AF,TCOF1
685039,5:149761183:A>G,NM_001135243.1:c.2859+1888A>G,\N,\N,17/26,Benign,\N,intron_variant,4.063,0.0212,1KG_AFR_AF,TCOF1
685040,5:149761207:C>T,NM_001135243.1:c.2859+1912C>T,\N,\N,17/26,Unknown significance,\N,intron_variant,2.269,\N,\N,TCOF1
685041,5:149761218:T>C,NM_001135243.1:c.2859+1923T>C,\N,\N,17/26,Unknown significance,\N,intron_variant,2.707,0.001,1KG_EAS_AF,TCOF1
685042,5:149761236:T>G,NM_001135243.1:c.2859+1941T>G,\N,\N,17/26,Benign,\N,intron_variant,5.194,0.122,1KG_EAS_AF,TCOF1
685043,5:149761295:C>T,NM_001135243.1:c.2859+2000C>T,\N,\N,17/26,Unknown significance,\N,intron_variant,2.304,\N,\N,TCOF1
685044,5:149761300:A>G,NM_001135243.1:c.2859+2005A>G,\N,\N,17/26,Unknown significance,\N,intron_variant,0.508,\N,\N,TCOF1
685045,5:149761321:T>C,NM_001135243.1:c.2859+2026T>C,\N,\N,17/26,Unknown significance,\N,intron_variant,1.406,0.003,1KG_EUR_AF,TCOF1
685046,5:149761328:T>C,NM_001135243.1:c.2859+2033T>C,\N,\N,17/26,Unknown significance,\N,intron_variant,1.294,\N,\N,TCOF1
685047,5:149761336:T>C,NM_001135243.1:c.2859+2041T>C,\N,\N,17/26,Unknown significance,\N,intron_variant,1.297,0.001,1KG_SAS_AF,TCOF1
685048,5:149761340:C>T,NM_001135243.1:c.2859+2045C>T,\N,\N,17/26,Unknown significance,\N,intron_variant,1.182,\N,\N,TCOF1
685049,5:149761349:A>G,NM_001135243.1:c.2859+2054A>G,\N,\N,17/26,Unknown significance,\N,intron_variant,3.994,\N,\N,TCOF1
685050,5:149761371:G>A,NM_001135243.1:c.2859+2076G>A,\N,\N,17/26,Unknown significance,\N,intron_variant,5.652,\N,\N,TCOF1
685051,5:149761388:G>A,NM_001135243.1:c.2859+2093G>A,\N,\N,17/26,Unknown significance,\N,intron_variant,1.247,0.0014,1KG_AMR_AF,TCOF1
685052,5:149761412:T>G,NM_001135243.1:c.2859+2117T>G,\N,\N,17/26,Unknown significance,\N,intron_variant,5.194,0.001,1KG_SAS_AF,TCOF1
685053,5:149761439:A>AT,NM_001135243.1:c.2859+2145dup,\N,\N,17/26,Unknown significance,\N,intron_variant,\N,\N,\N,TCOF1
685054,5:149761478:G>A,NM_001135243.1:c.2859+2183G>A,\N,\N,17/26,Unknown significance,\N,intron_variant,2.119,0.0008,1KG_AFR_AF,TCOF1
685055,5:149761532:G>A,NM_001135243.1:c.2859+2237G>A,\N,\N,17/26,Unknown significance,\N,intron_variant,2.586,0.0038,1KG_AFR_AF,TCOF1
685056,5:149761569:G>A,NM_001135243.1:c.2859+2274G>A,\N,\N,17/26,Unknown significance,\N,intron_variant,1.949,\N,\N,TCOF1
685057,5:149761570:C>T,NM_001135243.1:c.2859+2275C>T,\N,\N,17/26,Unknown significance,\N,intron_variant,1.45,\N,\N,TCOF1
685058,5:149761597:A>G,NM_001135243.1:c.2859+2302A>G,\N,\N,17/26,Unknown significance,\N,intron_variant,0.946,0.0008,1KG_AFR_AF,TCOF1
685059,5:149761680:G>A,NM_001135243.1:c.2859+2385G>A,\N,\N,17/26,Unknown significance,\N,intron_variant,0.187,0.003,1KG_AFR_AF,TCOF1
685060,5:149761690:G>T,NM_001135243.1:c.2859+2395G>T,\N,\N,17/26,Unknown significance,\N,intron_variant,2.25,\N,\N,TCOF1
685061,5:149761699:A>G,NM_001135243.1:c.2859+2404A>G,\N,\N,17/26,Unknown significance,\N,intron_variant,2.28,\N,\N,TCOF1
685062,5:149761717:G>A,NM_001135243.1:c.2859+2422G>A,\N,\N,17/26,Unknown significance,\N,intron_variant,0.891,0.0008,1KG_AFR_AF,TCOF1
685063,5:149761727:CA>C,NM_001135243.1:c.2859+2442del,\N,\N,17/26,Benign,\N,intron_variant,5.593,0.1377,1KG_AFR_AF,TCOF1
685064,5:149761743:TA>T,NM_001135243.1:c.2859+2449del,\N,\N,17/26,Unknown significance,\N,intron_variant,\N,\N,\N,TCOF1
685065,5:149761745:G>C,NM_001135243.1:c.2859+2450G>C,\N,\N,17/26,Unknown significance,\N,intron_variant,0.036,0.0015,1KG_AFR_AF,TCOF1
685066,5:149761746:G>C,NM_001135243.1:c.2859+2451G>C,\N,\N,17/26,Unknown significance,\N,intron_variant,0.035,0.001,1KG_EAS_AF,TCOF1
685067,5:149761791:G>A,NM_001135243.1:c.2859+2496G>A,\N,\N,17/26,Benign,\N,intron_variant,0.238,0.0119,1KG_EUR_AF,TCOF1
685068,5:149761814:G>A,NM_001135243.1:c.2859+2519G>A,\N,\N,17/26,Benign,\N,intron_variant,0.204,0.0112,1KG_SAS_AF,TCOF1
685069,5:149761868:A>G,NM_001135243.1:c.2859+2573A>G,\N,\N,17/26,Unknown significance,\N,intron_variant,2.915,0.0014,1KG_AMR_AF,TCOF1
685070,5:149761918:C>T,NM_001135243.1:c.2859+2623C>T,\N,\N,17/26,Benign,\N,intron_variant,4.014,0.0083,1KG_AFR_AF,TCOF1
685071,5:149761925:G>GT,NM_001135243.1:c.2859+2632dup,\N,\N,17/26,Benign,\N,intron_variant,1.363,0.2286,1KG_EUR_AF,TCOF1
685072,5:149761981:A>G,NM_001135243.1:c.2859+2686A>G,\N,\N,17/26,Benign,\N,intron_variant,2.375,0.0454,1KG_AFR_AF,TCOF1
685073,5:149761983:A>T,NM_001135243.1:c.2859+2688A>T,\N,\N,17/26,Unknown significance,\N,intron_variant,0.385,0.001,1KG_SAS_AF,TCOF1
685074,5:149762074:G>A,NM_001135243.1:c.2859+2779G>A,\N,\N,17/26,Unknown significance,\N,intron_variant,0.397,\N,\N,TCOF1
685075,5:149762087:T>A,NM_001135243.1:c.2859+2792T>A,\N,\N,17/26,Unknown significance,\N,intron_variant,7.634,\N,\N,TCOF1
685076,5:149762105:C>T,NM_001135243.1:c.2859+2810C>T,\N,\N,17/26,Unknown significance,\N,intron_variant,9.577,0.0029,1KG_AMR_AF,TCOF1
685077,5:149762113:C>T,NM_001135243.1:c.2859+2818C>T,\N,\N,17/26,Unknown significance,\N,intron_variant,7.571,\N,\N,TCOF1
685078,5:149762121:T>C,NM_001135243.1:c.2859+2826T>C,\N,\N,17/26,Unknown significance,\N,intron_variant,7.116,0.0015,1KG_AFR_AF,TCOF1
685079,5:149762131:T>A,NM_001135243.1:c.2859+2836T>A,\N,\N,17/26,Unknown significance,\N,intron_variant,6.888,\N,\N,TCOF1
685080,5:149762147:T>C,NM_001135243.1:c.2859+2852T>C,\N,\N,17/26,Unknown significance,\N,intron_variant,3.261,\N,\N,TCOF1
685081,5:149762181:T>C,NM_001135243.1:c.2859+2886T>C,\N,\N,17/26,Unknown significance,\N,intron_variant,2.495,0.001,1KG_EAS_AF,TCOF1
685082,5:149762183:A>G,NM_001135243.1:c.2859+2888A>G,\N,\N,17/26,Unknown significance,\N,intron_variant,2.984,\N,\N,TCOF1
685083,5:149762241:T>G,NM_001135243.1:c.2859+2946T>G,\N,\N,17/26,Unknown significance,\N,intron_variant,3.599,0.002,1KG_SAS_AF,TCOF1
685084,5:149762266:C>T,NM_001135243.1:c.2859+2971C>T,\N,\N,17/26,Benign,\N,intron_variant,3.088,0.008,1KG_EUR_AF,TCOF1
685085,5:149762278:G>A,NM_001135243.1:c.2859+2983G>A,\N,\N,17/26,Unknown significance,\N,intron_variant,9.354,\N,\N,TCOF1
685086,5:149762329:C>T,NM_001135243.1:c.2859+3034C>T,\N,\N,17/26,Unknown significance,\N,intron_variant,2.69,0.002,1KG_SAS_AF,TCOF1
685087,5:149762383:C>T,NM_001135243.1:c.2859+3088C>T,\N,\N,17/26,Unknown significance,\N,intron_variant,3.845,0.001,1KG_EUR_AF,TCOF1
685088,5:149762397:C>T,NM_001135243.1:c.2859+3102C>T,\N,\N,17/26,Unknown significance,\N,intron_variant,4.108,\N,\N,TCOF1
685089,5:149762428:G>A,NM_001135243.1:c.2859+3133G>A,\N,\N,17/26,Unknown significance,\N,intron_variant,5.31,\N,\N,TCOF1
685090,5:149762435:G>A,NM_001135243.1:c.2859+3140G>A,\N,\N,17/26,Unknown significance,\N,intron_variant,3.756,0.001,1KG_EUR_AF,TCOF1
685091,5:149762459:T>TGGGGGGGGGG,NM_001135243.1:c.2859+3165_2859+3166insGGGGGGGGGG,\N,\N,17/26,Unknown significance,\N,intron_variant,\N,\N,\N,TCOF1
685092,5:149762482:G>C,NM_001135243.1:c.2859+3187G>C,\N,\N,17/26,Unknown significance,\N,intron_variant,0.227,0.001,1KG_SAS_AF,TCOF1
685093,5:149762513:G>A,NM_001135243.1:c.2859+3218G>A,\N,\N,17/26,Unknown significance,\N,intron_variant,2.739,0.0008,1KG_AFR_AF,TCOF1
685094,5:149762522:C>G,NM_001135243.1:c.2859+3227C>G,\N,\N,17/26,Unknown significance,\N,intron_variant,2.56,\N,\N,TCOF1
685095,5:149762539:C>T,NM_001135243.1:c.2859+3244C>T,\N,\N,17/26,Unknown significance,\N,intron_variant,1.562,0.004,1KG_EUR_AF,TCOF1
685096,5:149762561:T>TG,NM_001135243.1:c.2859+3267dup,\N,\N,17/26,Unknown significance,\N,intron_variant,\N,\N,\N,TCOF1
685097,5:149762561:T>TGG,NM_001135243.1:c.2859+3267_2859+3268insGG,\N,\N,17/26,Unknown significance,\N,intron_variant,\N,\N,\N,TCOF1
685098,5:149762562:G>GGT,NM_001135243.1:c.2859+3267_2859+3268insGT,\N,\N,17/26,Unknown significance,\N,intron_variant,\N,\N,\N,TCOF1
685099,5:149762591:C>T,NM_001135243.1:c.2859+3296C>T,\N,\N,17/26,Unknown significance,\N,intron_variant,6.348,0.000472144,EXAC_NFE_AF,TCOF1
685100,5:149762592:G>A,NM_001135243.1:c.2859+3297G>A,\N,\N,17/26,Unknown significance,\N,intron_variant,0.564,\N,\N,TCOF1
685101,5:149762598:G>A,NM_001135243.1:c.2859+3303G>A,\N,\N,17/26,Benign,\N,intron_variant,5.265,0.0487805,EXAC_OTH_AF,TCOF1
685102,5:149762603:T>C,NM_001135243.1:c.2859+3308T>C,\N,\N,17/26,Unknown significance,\N,intron_variant,6.458,\N,\N,TCOF1
685103,5:149762609:G>A,NM_001135243.1:c.2859+3314G>A,\N,\N,17/26,Benign,\N,intron_variant,10.43,0.00558036,EXAC_NFE_AF,TCOF1
685104,5:149762628:G>A,NM_001135243.1:c.2859+3333G>A,\N,\N,17/26,Benign,\N,intron_variant,5.732,0.0083,1KG_AFR_AF,TCOF1
685105,5:149762630:C>T,NM_001135243.1:c.2859+3335C>T,\N,\N,17/26,Unknown significance,\N,intron_variant,4.853,\N,\N,TCOF1
685106,5:149762645:T>C,NM_001135243.1:c.2859+3350T>C,\N,\N,17/26,Unknown significance,\N,intron_variant,10.78,\N,\N,TCOF1
685107,5:149762645:T>G,NM_001135243.1:c.2859+3350T>G,\N,\N,17/26,Unknown significance,\N,intron_variant,11.4,0.000286533,EXAC_NFE_AF,TCOF1
685108,5:149762664:G>A,NM_001135243.1:c.2859+3369G>A,\N,\N,17/26,Benign,\N,intron_variant,12.82,0.00505051,EXAC_EAS_AF,TCOF1
685109,5:149762664:G>T,NM_001135243.1:c.2859+3369G>T,\N,\N,17/26,Unknown significance,\N,intron_variant,11.82,0.000282167,EXAC_NFE_AF,TCOF1
685110,5:149762677:C>T,NM_001135243.1:c.2859+3382C>T,\N,\N,17/26,Unknown significance,\N,intron_variant,5.456,0.000132345,EXAC_SAS_AF,TCOF1
685111,5:149762684:G>T,NM_001135243.1:c.2859+3389G>T,\N,\N,17/26,Likely benign,Treacher collins syndrome 1,intron_variant,1.757,0.003,1KG_EUR_AF,TCOF1
685112,5:149762689:C>T,NM_001135243.1:c.2859+3394C>T,\N,\N,17/26,Unknown significance,\N,intron_variant,3.926,0.0029,1KG_AMR_AF,TCOF1
685113,5:149762690:G>A,NM_001135243.1:c.2859+3395G>A,\N,\N,17/26,Unknown significance,\N,intron_variant,1.167,\N,\N,TCOF1
685114,5:149762698:C>A,NM_001135243.1:c.2859+3403C>A,\N,\N,17/26,Benign,\N,intron_variant,12.63,0.0072,1KG_AMR_AF,TCOF1
685115,5:149762714:GGAA>G,NM_001135243.1:c.2859+3422_2859+3424del,\N,\N,17/26,Unknown significance,\N,intron_variant,11.18,\N,\N,TCOF1
685116,5:149762733:C>T,NM_001135243.1:c.2859+3438C>T,\N,\N,17/26,Unknown significance,\N,intron_variant,10.25,\N,\N,TCOF1
685117,5:149762734:A>G,NM_001135243.1:c.2859+3439A>G,\N,\N,17/26,Unknown significance,\N,intron_variant,9.657,0.001,1KG_EAS_AF,TCOF1
685118,5:149762739:C>T,NM_001135243.1:c.2859+3444C>T,\N,\N,17/26,Benign,\N,intron_variant,4.394,0.121,1KG_EAS_AF,TCOF1
685119,5:149762779:G>T,NM_001135243.1:c.2859+3484G>T,\N,\N,17/26,Unknown significance,\N,intron_variant,2.48,0.000175623,EXAC_SAS_AF,TCOF1
685120,5:149762817:A>G,NM_001135243.1:c.2859+3522A>G,\N,\N,17/26,Unknown significance,\N,intron_variant,2.072,\N,\N,TCOF1
685121,5:149762819:A>C,NM_001135243.1:c.2859+3524A>C,\N,\N,17/26,Benign,\N,intron_variant,1.371,0.0787,1KG_AFR_AF,TCOF1
685122,5:149762820:G>C,NM_001135243.1:c.2859+3525G>C,\N,\N,17/26,Unknown significance,\N,intron_variant,2.175,\N,\N,TCOF1
685123,5:149762830:C>T,NM_001135243.1:c.2859+3535C>T,\N,\N,17/26,Unknown significance,\N,intron_variant,2.412,\N,\N,TCOF1
685124,5:149762831:G>A,NM_001135243.1:c.2859+3536G>A,\N,\N,17/26,Unknown significance,\N,intron_variant,0.865,0.001,1KG_SAS_AF,TCOF1
685125,5:149762849:C>T,NM_001135243.1:c.2859+3554C>T,\N,\N,17/26,Unknown significance,\N,intron_variant,3.033,\N,\N,TCOF1
685126,5:149762851:C>T,NM_001135243.1:c.2859+3556C>T,\N,\N,17/26,Unknown significance,\N,intron_variant,5.285,\N,\N,TCOF1
685127,5:149762872:C>G,NM_001135243.1:c.2859+3577C>G,\N,\N,17/26,Unknown significance,\N,intron_variant,14.3,\N,\N,TCOF1
685128,5:149762876:A>G,NM_001135243.1:c.2859+3581A>G,\N,\N,17/26,Unknown significance,\N,intron_variant,14.49,0.001,1KG_EAS_AF|1KG_SAS_AF,TCOF1
685129,5:149762882:A>G,NM_001135243.1:c.2859+3587A>G,\N,\N,17/26,Unknown significance,\N,intron_variant,15.76,\N,\N,TCOF1
685130,5:149762928:A>G,NM_001135243.1:c.2859+3633A>G,\N,\N,17/26,Unknown significance,\N,intron_variant,4.247,\N,\N,TCOF1
685131,5:149762931:C>G,NM_001135243.1:c.2859+3636C>G,\N,\N,17/26,Unknown significance,\N,intron_variant,5.084,0.0008,1KG_AFR_AF,TCOF1
685132,5:149762944:C>T,NM_001135243.1:c.2859+3649C>T,\N,\N,17/26,Unknown significance,\N,intron_variant,9.014,\N,\N,TCOF1
685133,5:149762978:C>T,NM_001135243.1:c.2859+3683C>T,\N,\N,17/26,Unknown significance,\N,intron_variant,6.304,\N,\N,TCOF1
685134,5:149762998:G>A,NM_001135243.1:c.2859+3703G>A,\N,\N,17/26,Benign,\N,intron_variant,4.899,0.0779,1KG_AFR_AF,TCOF1
685135,5:149763012:C>G,NM_001135243.1:c.2859+3717C>G,\N,\N,17/26,Unknown significance,\N,intron_variant,2.148,0.002,1KG_EAS_AF,TCOF1
685136,5:149763082:C>T,NM_001135243.1:c.2859+3787C>T,\N,\N,17/26,Unknown significance,\N,intron_variant,1.678,\N,\N,TCOF1
685137,5:149763087:G>T,NM_001135243.1:c.2859+3792G>T,\N,\N,17/26,Unknown significance,\N,intron_variant,1.177,0.0029,1KG_AMR_AF,TCOF1
685138,5:149763088:T>C,NM_001135243.1:c.2859+3793T>C,\N,\N,17/26,Benign,\N,intron_variant,1.917,0.005,1KG_EUR_AF,TCOF1
685139,5:149763225:C>G,NM_001135243.1:c.2859+3930C>G,\N,\N,17/26,Unknown significance,\N,intron_variant,2.815,0.0008,1KG_AFR_AF,TCOF1
685140,5:149763237:G>C,NM_001135243.1:c.2859+3942G>C,\N,\N,17/26,Unknown significance,\N,intron_variant,1.108,0.0031,1KG_SAS_AF,TCOF1
685141,5:149763250:G>T,NM_001135243.1:c.2859+3955G>T,\N,\N,17/26,Unknown significance,\N,intron_variant,0.271,\N,\N,TCOF1
685142,5:149763258:C>T,NM_001135243.1:c.2859+3963C>T,\N,\N,17/26,Unknown significance,\N,intron_variant,2.889,\N,\N,TCOF1
685143,5:149763259:G>A,NM_001135243.1:c.2859+3964G>A,\N,\N,17/26,Unknown significance,\N,intron_variant,0.469,0.001,1KG_EUR_AF,TCOF1
685144,5:149763260:C>T,NM_001135243.1:c.2859+3965C>T,\N,\N,17/26,Unknown significance,\N,intron_variant,2.972,0.000111807,EXAC_NFE_AF,TCOF1
685145,5:149763262:G>T,NM_001135243.1:c.2859+3967G>T,\N,\N,17/26,Benign,\N,intron_variant,0.863,0.0703,1KG_AFR_AF,TCOF1
685146,5:149763264:T>C,NM_001135243.1:c.2859+3969T>C,\N,\N,17/26,Unknown significance,\N,intron_variant,1.514,0.00012639,EXAC_SAS_AF,TCOF1
685147,5:149763265:C>G,NM_001135243.1:c.2859+3970C>G,\N,\N,17/26,Unknown significance,\N,intron_variant,2.935,0.000126422,EXAC_SAS_AF,TCOF1
685148,5:149763265:C>T,NM_001135243.1:c.2859+3970C>T,\N,\N,17/26,Unknown significance,\N,intron_variant,4.492,0.001,1KG_EUR_AF,TCOF1
685149,5:149763273:TCC>T,NM_001135243.1:c.2859+3980_2859+3981del,\N,\N,17/26,Unknown significance,\N,intron_variant,\N,\N,\N,TCOF1
685150,5:149763281:T>G,NM_001135243.1:c.2859+3986T>G,\N,\N,17/26,Unknown significance,\N,intron_variant,4.292,0.00243902,EXAC_AMR_AF,TCOF1
685151,5:149763301:G>A,NM_001008657.2:c.2860G>A,NP_001008657.1:p.Asp954Asn,18/18,\N,Likely benign,\N,missense_variant&splice_region_variant,4.318,0.000126358,EXAC_SAS_AF,TCOF1
685152,5:149763305:A>G,NM_001008657.2:c.2864A>G,NP_001008657.1:p.Gln955Arg,18/18,\N,Benign,\N,missense_variant,1.063,0.2383,1KG_AFR_AF,TCOF1
685153,5:149763308:A>T,NM_001008657.2:c.2867A>T,NP_001008657.1:p.Glu956Val,18/18,\N,Likely benign,\N,missense_variant,1.507,\N,\N,TCOF1
685154,5:149763309:GTCT>G,NM_001008657.2:c.2873_2875del,NP_001008657.1:p.Ser958del,18/18,\N,Unknown significance,\N,inframe_deletion,3.843,\N,\N,TCOF1
685155,5:149763328:G>C,NM_001135243.1:c.2859+4033G>C,\N,\N,17/26,Unknown significance,\N,intron_variant,0.278,\N,\N,TCOF1
685156,5:149763342:CCT>C,NM_001135243.1:c.2859+4053_2859+4054del,\N,\N,17/26,Unknown significance,\N,intron_variant,3.296,\N,\N,TCOF1
685157,5:149763347:C>A,NM_001135243.1:c.2859+4052C>A,\N,\N,17/26,Unknown significance,\N,intron_variant,1.957,0.000252717,EXAC_SAS_AF,TCOF1
685158,5:149763371:A>C,NM_001135243.1:c.2859+4076A>C,\N,\N,17/26,Unknown significance,\N,intron_variant,1.97,\N,\N,TCOF1
685159,5:149763372:T>C,NM_001135243.1:c.2859+4077T>C,\N,\N,17/26,Unknown significance,\N,intron_variant,1.518,0.001,1KG_SAS_AF,TCOF1
685160,5:149763377:T>C,NM_001135243.1:c.2859+4082T>C,\N,\N,17/26,Unknown significance,\N,intron_variant,2.914,\N,\N,TCOF1
685161,5:149763433:G>A,NM_001135243.1:c.2860-4032G>A,\N,\N,17/26,Unknown significance,\N,intron_variant,0.58,\N,\N,TCOF1
685162,5:149763434:G>A,NM_001135243.1:c.2860-4031G>A,\N,\N,17/26,Unknown significance,\N,intron_variant,3.289,\N,\N,TCOF1
685163,5:149763438:A>AG,NM_001135243.1:c.2860-4025dup,\N,\N,17/26,Unknown significance,\N,intron_variant,0.315,0.0023,1KG_AFR_AF,TCOF1
685164,5:149763470:C>T,NM_001135243.1:c.2860-3995C>T,\N,\N,17/26,Unknown significance,\N,intron_variant,4.149,0.0008,1KG_AFR_AF,TCOF1
685165,5:149763522:C>G,NM_001135243.1:c.2860-3943C>G,\N,\N,17/26,Unknown significance,\N,intron_variant,4.748,0.0008,1KG_AFR_AF,TCOF1
685166,5:149763566:C>G,NM_001135243.1:c.2860-3899C>G,\N,\N,17/26,Unknown significance,\N,intron_variant,2.895,\N,\N,TCOF1
685167,5:149763643:A>G,NM_001135243.1:c.2860-3822A>G,\N,\N,17/26,Unknown significance,\N,intron_variant,3.792,\N,\N,TCOF1
685168,5:149763678:C>T,NM_001135243.1:c.2860-3787C>T,\N,\N,17/26,Unknown significance,\N,intron_variant,4.564,\N,\N,TCOF1
685169,5:149763708:A>G,NM_001135243.1:c.2860-3757A>G,\N,\N,17/26,Unknown significance,\N,intron_variant,1.652,\N,\N,TCOF1
685170,5:149763713:T>A,NM_001135243.1:c.2860-3752T>A,\N,\N,17/26,Unknown significance,\N,intron_variant,4.569,\N,\N,TCOF1
685171,5:149763725:G>T,NM_001135243.1:c.2860-3740G>T,\N,\N,17/26,Unknown significance,\N,intron_variant,2.642,0.0015,1KG_AFR_AF,TCOF1
685172,5:149763743:C>T,NM_001135243.1:c.2860-3722C>T,\N,\N,17/26,Unknown significance,\N,intron_variant,4.542,\N,\N,TCOF1
685173,5:149763769:C>A,NM_001135243.1:c.2860-3696C>A,\N,\N,17/26,Unknown significance,\N,intron_variant,4.567,0.001,1KG_EUR_AF,TCOF1
685174,5:149763769:C>T,NM_001135243.1:c.2860-3696C>T,\N,\N,17/26,Unknown significance,\N,intron_variant,4.863,\N,\N,TCOF1
685175,5:149763772:T>G,NM_001135243.1:c.2860-3693T>G,\N,\N,17/26,Benign,\N,intron_variant,3.028,0.0461,1KG_AFR_AF,TCOF1
685176,5:149763778:A>G,NM_001135243.1:c.2860-3687A>G,\N,\N,17/26,Unknown significance,\N,intron_variant,2.763,0.0008,1KG_AFR_AF,TCOF1
685177,5:149763801:G>C,NM_001135243.1:c.2860-3664G>C,\N,\N,17/26,Unknown significance,\N,intron_variant,0.334,\N,\N,TCOF1
685178,5:149763805:A>C,NM_001135243.1:c.2860-3660A>C,\N,\N,17/26,Unknown significance,\N,intron_variant,0.586,\N,\N,TCOF1
685179,5:149763822:G>T,NM_001135243.1:c.2860-3643G>T,\N,\N,17/26,Benign,\N,intron_variant,1.383,0.0102,1KG_SAS_AF,TCOF1
685180,5:149763875:G>C,NM_001135243.1:c.2860-3590G>C,\N,\N,17/26,Unknown significance,\N,intron_variant,0.979,\N,\N,TCOF1
685181,5:149763884:C>G,NM_001135243.1:c.2860-3581C>G,\N,\N,17/26,Unknown significance,\N,intron_variant,1.401,0.001,1KG_EAS_AF,TCOF1
685182,5:149763980:G>C,NM_001135243.1:c.2860-3485G>C,\N,\N,17/26,Unknown significance,\N,intron_variant,9.804,0.001,1KG_SAS_AF,TCOF1
685183,5:149764014:G>A,NM_001135243.1:c.2860-3451G>A,\N,\N,17/26,Unknown significance,\N,intron_variant,0.915,\N,\N,TCOF1
685184,5:149764023:T>C,NM_001135243.1:c.2860-3442T>C,\N,\N,17/26,Unknown significance,\N,intron_variant,0.014,\N,\N,TCOF1
685185,5:149764031:C>T,NM_001135243.1:c.2860-3434C>T,\N,\N,17/26,Unknown significance,\N,intron_variant,3.604,0.0023,1KG_AFR_AF,TCOF1
685186,5:149764088:C>T,NM_001135243.1:c.2860-3377C>T,\N,\N,17/26,Unknown significance,\N,intron_variant,2.563,\N,\N,TCOF1
685187,5:149764103:C>T,NM_001135243.1:c.2860-3362C>T,\N,\N,17/26,Unknown significance,\N,intron_variant,4.295,0.0008,1KG_AFR_AF,TCOF1
685188,5:149764112:A>T,NM_001135243.1:c.2860-3353A>T,\N,\N,17/26,Unknown significance,\N,intron_variant,2.243,0.001,1KG_EUR_AF,TCOF1
685189,5:149764126:G>A,NM_001135243.1:c.2860-3339G>A,\N,\N,17/26,Unknown significance,\N,intron_variant,8.815,0.004,1KG_EAS_AF,TCOF1
685190,5:149764138:C>T,NM_001135243.1:c.2860-3327C>T,\N,\N,17/26,Unknown significance,\N,intron_variant,1.177,\N,\N,TCOF1
685191,5:149764172:A>G,NM_001135243.1:c.2860-3293A>G,\N,\N,17/26,Benign,\N,intron_variant,19.34,0.0098,1KG_AFR_AF,TCOF1
685192,5:149764179:A>G,NM_001135243.1:c.2860-3286A>G,\N,\N,17/26,Unknown significance,\N,intron_variant,18.05,0.0015,1KG_AFR_AF,TCOF1
685193,5:149764183:A>G,NM_001135243.1:c.2860-3282A>G,\N,\N,17/26,Unknown significance,\N,intron_variant,19.47,\N,\N,TCOF1
685194,5:149764188:C>G,NM_001135243.1:c.2860-3277C>G,\N,\N,17/26,Unknown significance,\N,intron_variant,15.79,0.002,1KG_EUR_AF,TCOF1
685195,5:149764209:A>G,NM_001135243.1:c.2860-3256A>G,\N,\N,17/26,Unknown significance,\N,intron_variant,19.75,\N,\N,TCOF1
685196,5:149764238:G>GTC,NM_001135243.1:c.2860-3225_2860-3224dup,\N,\N,17/26,Benign,\N,intron_variant,18.55,0.6808,1KG_AFR_AF,TCOF1
685197,5:149764239:T>TTC,NM_001135243.1:c.2860-3226_2860-3225insTC,\N,\N,17/26,Unknown significance,\N,intron_variant,\N,\N,\N,TCOF1
685198,5:149764240:C>CCT,NM_001135243.1:c.2860-3225_2860-3224insCT,\N,\N,17/26,Unknown significance,\N,intron_variant,\N,\N,\N,TCOF1
685199,5:149764242:A>C,NM_001135243.1:c.2860-3223A>C,\N,\N,17/26,Unknown significance,\N,intron_variant,15.41,\N,\N,TCOF1
685200,5:149764245:T>TA,NM_001135243.1:c.2860-3215dup,\N,\N,17/26,Unknown significance,\N,intron_variant,\N,\N,\N,TCOF1
685201,5:149764256:A>G,NM_001135243.1:c.2860-3209A>G,\N,\N,17/26,Benign,\N,intron_variant,4.682,0.0069,1KG_EAS_AF,TCOF1
685202,5:149764265:A>G,NM_001135243.1:c.2860-3200A>G,\N,\N,17/26,Benign,\N,intron_variant,6.464,0.0112,1KG_SAS_AF,TCOF1
685203,5:149764272:T>C,NM_001135243.1:c.2860-3193T>C,\N,\N,17/26,Unknown significance,\N,intron_variant,6.872,\N,\N,TCOF1
685204,5:149764293:T>G,NM_001135243.1:c.2860-3172T>G,\N,\N,17/26,Benign,\N,intron_variant,5.646,0.502,1KG_SAS_AF,TCOF1
685205,5:149764304:G>A,NM_001135243.1:c.2860-3161G>A,\N,\N,17/26,Unknown significance,\N,intron_variant,0.688,0.0008,1KG_AFR_AF,TCOF1
685206,5:149764305:G>C,NM_001135243.1:c.2860-3160G>C,\N,\N,17/26,Unknown significance,\N,intron_variant,4.867,\N,\N,TCOF1
685207,5:149764306:G>T,NM_001135243.1:c.2860-3159G>T,\N,\N,17/26,Unknown significance,\N,intron_variant,6.573,\N,\N,TCOF1
685208,5:149764317:G>A,NM_001135243.1:c.2860-3148G>A,\N,\N,17/26,Unknown significance,\N,intron_variant,6.959,\N,\N,TCOF1
685209,5:149764369:T>G,NM_001135243.1:c.2860-3096T>G,\N,\N,17/26,Unknown significance,\N,intron_variant,9.43,\N,\N,TCOF1
685210,5:149764433:G>A,NM_001135243.1:c.2860-3032G>A,\N,\N,17/26,Unknown significance,\N,intron_variant,9.214,\N,\N,TCOF1
685211,5:149764447:G>A,NM_001135243.1:c.2860-3018G>A,\N,\N,17/26,Unknown significance,\N,intron_variant,22,0.001,1KG_EAS_AF,TCOF1
685212,5:149764451:A>T,NM_001135243.1:c.2860-3014A>T,\N,\N,17/26,Unknown significance,\N,intron_variant,17.37,\N,\N,TCOF1
685213,5:149764476:AG>A,NM_001135243.1:c.2860-2986del,\N,\N,17/26,Unknown significance,\N,intron_variant,14.55,0.003,1KG_EUR_AF,TCOF1
685214,5:149764493:C>T,NM_001135243.1:c.2860-2972C>T,\N,\N,17/26,Unknown significance,\N,intron_variant,16.97,0.001,1KG_EAS_AF,TCOF1
685215,5:149764519:C>T,NM_001135243.1:c.2860-2946C>T,\N,\N,17/26,Unknown significance,\N,intron_variant,2.447,\N,\N,TCOF1
685216,5:149764520:C>T,NM_001135243.1:c.2860-2945C>T,\N,\N,17/26,Unknown significance,\N,intron_variant,0.845,0.001,1KG_EUR_AF,TCOF1
685217,5:149764550:C>T,NM_001135243.1:c.2860-2915C>T,\N,\N,17/26,Unknown significance,\N,intron_variant,5.383,0.0023,1KG_AFR_AF,TCOF1
685218,5:149764554:C>T,NM_001135243.1:c.2860-2911C>T,\N,\N,17/26,Unknown significance,\N,intron_variant,0.71,0.0029,1KG_AMR_AF,TCOF1
685219,5:149764589:CTG>C,NM_001135243.1:c.2860-2873_2860-2872del,\N,\N,17/26,Benign,\N,intron_variant,4.326,0.0173,1KG_AMR_AF,TCOF1
685220,5:149764605:A>C,NM_001135243.1:c.2860-2860A>C,\N,\N,17/26,Unknown significance,\N,intron_variant,0.617,0.0014,1KG_AMR_AF,TCOF1
685221,5:149764648:A>C,NM_001135243.1:c.2860-2817A>C,\N,\N,17/26,Unknown significance,\N,intron_variant,0.138,0.0008,1KG_AFR_AF,TCOF1
685222,5:149764648:ATAACT>A,NM_001135243.1:c.2860-2813_2860-2809del,\N,\N,17/26,Unknown significance,\N,intron_variant,\N,\N,\N,TCOF1
685223,5:149764659:T>G,NM_001135243.1:c.2860-2806T>G,\N,\N,17/26,Unknown significance,\N,intron_variant,0.491,\N,\N,TCOF1
685224,5:149764667:C>T,NM_001135243.1:c.2860-2798C>T,\N,\N,17/26,Unknown significance,\N,intron_variant,1.779,0.001,1KG_EUR_AF,TCOF1
685225,5:149764676:A>G,NM_001135243.1:c.2860-2789A>G,\N,\N,17/26,Unknown significance,\N,intron_variant,2.405,\N,\N,TCOF1
685226,5:149764680:G>T,NM_001135243.1:c.2860-2785G>T,\N,\N,17/26,Unknown significance,\N,intron_variant,0.313,0.0008,1KG_AFR_AF,TCOF1
685227,5:149764739:T>C,NM_001135243.1:c.2860-2726T>C,\N,\N,17/26,Unknown significance,\N,intron_variant,0.698,\N,\N,TCOF1
685228,5:149764752:ACTT>A,NM_001135243.1:c.2860-2707_2860-2705del,\N,\N,17/26,Unknown significance,\N,intron_variant,\N,\N,\N,TCOF1
685229,5:149764761:A>G,NM_001135243.1:c.2860-2704A>G,\N,\N,17/26,Unknown significance,\N,intron_variant,2.495,0.0015,1KG_AFR_AF,TCOF1
685230,5:149764778:G>A,NM_001135243.1:c.2860-2687G>A,\N,\N,17/26,Unknown significance,\N,intron_variant,1.949,0.001,1KG_SAS_AF,TCOF1
685231,5:149764794:A>T,NM_001135243.1:c.2860-2671A>T,\N,\N,17/26,Unknown significance,\N,intron_variant,1.072,\N,\N,TCOF1
685232,5:149764812:A>G,NM_001135243.1:c.2860-2653A>G,\N,\N,17/26,Unknown significance,\N,intron_variant,1.045,0.0014,1KG_AMR_AF,TCOF1
685233,5:149764852:C>T,NM_001135243.1:c.2860-2613C>T,\N,\N,17/26,Unknown significance,\N,intron_variant,3.537,0.001,1KG_EUR_AF,TCOF1
685234,5:149764867:T>A,NM_001135243.1:c.2860-2598T>A,\N,\N,17/26,Unknown significance,\N,intron_variant,5.4,0.0008,1KG_AFR_AF,TCOF1
685235,5:149764877:T>C,NM_001135243.1:c.2860-2588T>C,\N,\N,17/26,Benign,\N,intron_variant,2.119,0.0106,1KG_AFR_AF,TCOF1
685236,5:149764880:A>G,NM_001135243.1:c.2860-2585A>G,\N,\N,17/26,Unknown significance,\N,intron_variant,2.806,\N,\N,TCOF1
685237,5:149764893:C>G,NM_001135243.1:c.2860-2572C>G,\N,\N,17/26,Unknown significance,\N,intron_variant,3.018,0.001,1KG_EAS_AF,TCOF1
685238,5:149764925:C>G,NM_001135243.1:c.2860-2540C>G,\N,\N,17/26,Unknown significance,\N,intron_variant,10.91,0.0014,1KG_AMR_AF,TCOF1
685239,5:149764992:A>G,NM_001135243.1:c.2860-2473A>G,\N,\N,17/26,Unknown significance,\N,intron_variant,0.634,\N,\N,TCOF1
685240,5:149765037:C>T,NM_001135243.1:c.2860-2428C>T,\N,\N,17/26,Benign,\N,intron_variant,6.595,0.0189,1KG_AFR_AF,TCOF1
685241,5:149765079:G>A,NM_001135243.1:c.2860-2386G>A,\N,\N,17/26,Unknown significance,\N,intron_variant,4.087,0.0023,1KG_AFR_AF,TCOF1
685242,5:149765083:T>C,NM_001135243.1:c.2860-2382T>C,\N,\N,17/26,Unknown significance,\N,intron_variant,3.106,\N,\N,TCOF1
685243,5:149765105:A>G,NM_001135243.1:c.2860-2360A>G,\N,\N,17/26,Benign,\N,intron_variant,4.289,0.0209,1KG_EUR_AF,TCOF1
685244,5:149765167:C>T,NM_001135243.1:c.2860-2298C>T,\N,\N,17/26,Unknown significance,\N,intron_variant,4.958,0.0014,1KG_AMR_AF,TCOF1
685245,5:149765177:T>C,NM_001135243.1:c.2860-2288T>C,\N,\N,17/26,Unknown significance,\N,intron_variant,2.952,\N,\N,TCOF1
685246,5:149765196:G>GC,NM_001135243.1:c.2860-2264dup,\N,\N,17/26,Benign,\N,intron_variant,3.529,0.0204,1KG_AFR_AF,TCOF1
685247,5:149765236:C>T,NM_001135243.1:c.2860-2229C>T,\N,\N,17/26,Unknown significance,\N,intron_variant,3.606,\N,\N,TCOF1
685248,5:149765280:C>G,NM_001135243.1:c.2860-2185C>G,\N,\N,17/26,Benign,\N,intron_variant,3.963,0.0051,1KG_SAS_AF,TCOF1
685249,5:149765340:A>G,NM_001135243.1:c.2860-2125A>G,\N,\N,17/26,Benign,\N,intron_variant,0.967,0.502,1KG_SAS_AF,TCOF1
685250,5:149765368:G>T,NM_001135243.1:c.2860-2097G>T,\N,\N,17/26,Unknown significance,\N,intron_variant,3.186,\N,\N,TCOF1
685251,5:149765385:C>T,NM_001135243.1:c.2860-2080C>T,\N,\N,17/26,Benign,\N,intron_variant,2.018,0.0061,1KG_SAS_AF,TCOF1
685252,5:149765392:A>C,NM_001135243.1:c.2860-2073A>C,\N,\N,17/26,Unknown significance,\N,intron_variant,0.634,\N,\N,TCOF1
685253,5:149765404:GTGCTGGTTTTGC>G,NM_001135243.1:c.2860-2056_2860-2045del,\N,\N,17/26,Unknown significance,\N,intron_variant,\N,\N,\N,TCOF1
685254,5:149765426:C>G,NM_001135243.1:c.2860-2039C>G,\N,\N,17/26,Benign,\N,intron_variant,3.157,0.0051,1KG_SAS_AF,TCOF1
685255,5:149765427:C>G,NM_001135243.1:c.2860-2038C>G,\N,\N,17/26,Benign,\N,intron_variant,2.121,0.2272,1KG_EAS_AF,TCOF1
685256,5:149765433:G>GT,NM_001135243.1:c.2860-2024dup,\N,\N,17/26,Benign,\N,intron_variant,1.542,0.0303,1KG_AFR_AF,TCOF1
685257,5:149765434:T>G,NM_001135243.1:c.2860-2031T>G,\N,\N,17/26,Benign,\N,intron_variant,2.009,0.0696,1KG_AFR_AF,TCOF1
685258,5:149765441:T>C,NM_001135243.1:c.2860-2024T>C,\N,\N,17/26,Unknown significance,\N,intron_variant,0.054,\N,\N,TCOF1
685259,5:149765507:C>T,NM_001135243.1:c.2860-1958C>T,\N,\N,17/26,Unknown significance,\N,intron_variant,3.899,0.001,1KG_EAS_AF,TCOF1
685260,5:149765537:AACT>A,NM_001135243.1:c.2860-1923_2860-1921del,\N,\N,17/26,Unknown significance,\N,intron_variant,\N,\N,\N,TCOF1
685261,5:149765546:C>G,NM_001135243.1:c.2860-1919C>G,\N,\N,17/26,Unknown significance,\N,intron_variant,2.601,0.001,1KG_EAS_AF,TCOF1
685262,5:149765548:G>A,NM_001135243.1:c.2860-1917G>A,\N,\N,17/26,Unknown significance,\N,intron_variant,1.567,0.0008,1KG_AFR_AF,TCOF1
685263,5:149765559:C>T,NM_001135243.1:c.2860-1906C>T,\N,\N,17/26,Unknown significance,\N,intron_variant,1.567,\N,\N,TCOF1
685264,5:149765601:G>A,NM_001135243.1:c.2860-1864G>A,\N,\N,17/26,Unknown significance,\N,intron_variant,2.587,0.0008,1KG_AFR_AF,TCOF1
685265,5:149765619:C>T,NM_001135243.1:c.2860-1846C>T,\N,\N,17/26,Unknown significance,\N,intron_variant,2.55,0.001,1KG_EAS_AF|1KG_SAS_AF,TCOF1
685266,5:149765628:AAGC>A,NM_001135243.1:c.2860-1834_2860-1832del,\N,\N,17/26,Benign,\N,intron_variant,3.404,0.0706,1KG_EUR_AF,TCOF1
685267,5:149765640:T>C,NM_001135243.1:c.2860-1825T>C,\N,\N,17/26,Unknown significance,\N,intron_variant,1.679,0.0023,1KG_AFR_AF,TCOF1
685268,5:149765652:G>A,NM_001135243.1:c.2860-1813G>A,\N,\N,17/26,Benign,\N,intron_variant,4.067,0.0113,1KG_AFR_AF,TCOF1
685269,5:149765698:C>T,NM_001135243.1:c.2860-1767C>T,\N,\N,17/26,Benign,\N,intron_variant,2.097,0.0109,1KG_EAS_AF,TCOF1
685270,5:149765700:C>A,NM_001135243.1:c.2860-1765C>A,\N,\N,17/26,Unknown significance,\N,intron_variant,5.328,0.0023,1KG_AFR_AF,TCOF1
685271,5:149765705:A>G,NM_001135243.1:c.2860-1760A>G,\N,\N,17/26,Unknown significance,\N,intron_variant,4.189,\N,\N,TCOF1
685272,5:149765744:C>T,NM_001135243.1:c.2860-1721C>T,\N,\N,17/26,Benign,\N,intron_variant,10.89,0.499,1KG_SAS_AF,TCOF1
685273,5:149765804:T>C,NM_001135243.1:c.2860-1661T>C,\N,\N,17/26,Unknown significance,\N,intron_variant,16.54,\N,\N,TCOF1
685274,5:149765828:C>T,NM_001135243.1:c.2860-1637C>T,\N,\N,17/26,Unknown significance,\N,intron_variant,20.3,\N,\N,TCOF1
685275,5:149765866:G>A,NM_001135243.1:c.2860-1599G>A,\N,\N,17/26,Unknown significance,\N,intron_variant,18.06,\N,\N,TCOF1
685276,5:149765914:C>A,NM_001135243.1:c.2860-1551C>A,\N,\N,17/26,Benign,\N,intron_variant,21.4,0.005,1KG_EAS_AF,TCOF1
685277,5:149765940:T>A,NM_001135243.1:c.2860-1525T>A,\N,\N,17/26,Unknown significance,\N,intron_variant,21.3,0.002,1KG_SAS_AF,TCOF1
685278,5:149765963:G>T,NM_001135243.1:c.2860-1502G>T,\N,\N,17/26,Unknown significance,\N,intron_variant,11.47,\N,\N,TCOF1
685279,5:149765985:T>C,NM_001135243.1:c.2860-1480T>C,\N,\N,17/26,Benign,\N,intron_variant,19.73,0.0318,1KG_AFR_AF,TCOF1
685280,5:149766003:G>A,NM_001135243.1:c.2860-1462G>A,\N,\N,17/26,Unknown significance,\N,intron_variant,15,\N,\N,TCOF1
685281,5:149766005:G>A,NM_001135243.1:c.2860-1460G>A,\N,\N,17/26,Unknown significance,\N,intron_variant,20.3,\N,\N,TCOF1
685282,5:149766005:G>C,NM_001135243.1:c.2860-1460G>C,\N,\N,17/26,Unknown significance,\N,intron_variant,17.88,0.001,1KG_EUR_AF,TCOF1
685283,5:149766017:T>G,NM_001135243.1:c.2860-1448T>G,\N,\N,17/26,Unknown significance,\N,intron_variant,20.3,\N,\N,TCOF1
685284,5:149766025:G>A,NM_001135243.1:c.2860-1440G>A,\N,\N,17/26,Unknown significance,\N,intron_variant,19.66,0.001,1KG_EUR_AF,TCOF1
685285,5:149766051:G>A,NM_001135243.1:c.2860-1414G>A,\N,\N,17/26,Unknown significance,\N,intron_variant,7.177,0.001,1KG_EAS_AF,TCOF1
685286,5:149766136:G>A,NM_001135243.1:c.2860-1329G>A,\N,\N,17/26,Unknown significance,\N,intron_variant,4.823,\N,\N,TCOF1
685287,5:149766151:C>G,NM_001135243.1:c.2860-1314C>G,\N,\N,17/26,Benign,\N,intron_variant,2.538,0.0295,1KG_AFR_AF,TCOF1
685288,5:149766151:CAG>C,NM_001135243.1:c.2860-1313_2860-1312del,\N,\N,17/26,Unknown significance,\N,intron_variant,\N,0.0023,1KG_AFR_AF,TCOF1
685289,5:149766154:G>C,NM_001135243.1:c.2860-1311G>C,\N,\N,17/26,Unknown significance,\N,intron_variant,0.116,\N,\N,TCOF1
685290,5:149766175:CAG>C,NM_001135243.1:c.2860-1286_2860-1285del,\N,\N,17/26,Benign,\N,intron_variant,8.914,0.2272,1KG_EAS_AF,TCOF1
685291,5:149766179:GAC>G,NM_001135243.1:c.2860-1285_2860-1284del,\N,\N,17/26,Unknown significance,\N,intron_variant,2.452,\N,\N,TCOF1
685292,5:149766210:T>C,NM_001135243.1:c.2860-1255T>C,\N,\N,17/26,Unknown significance,\N,intron_variant,1.447,0.001,1KG_EAS_AF,TCOF1
685293,5:149766238:C>T,NM_001135243.1:c.2860-1227C>T,\N,\N,17/26,Unknown significance,\N,intron_variant,4.356,0.002,1KG_EAS_AF,TCOF1
685294,5:149766255:C>T,NM_001135243.1:c.2860-1210C>T,\N,\N,17/26,Benign,\N,intron_variant,7.443,0.0098,1KG_AFR_AF,TCOF1
685295,5:149766263:G>A,NM_001135243.1:c.2860-1202G>A,\N,\N,17/26,Unknown significance,\N,intron_variant,3.101,\N,\N,TCOF1
685296,5:149766326:G>A,NM_001135243.1:c.2860-1139G>A,\N,\N,17/26,Unknown significance,\N,intron_variant,4.361,\N,\N,TCOF1
685297,5:149766330:A>G,NM_001135243.1:c.2860-1135A>G,\N,\N,17/26,Unknown significance,\N,intron_variant,2.421,\N,\N,TCOF1
685298,5:149766348:G>A,NM_001135243.1:c.2860-1117G>A,\N,\N,17/26,Unknown significance,\N,intron_variant,0.664,\N,\N,TCOF1
685299,5:149766357:A>G,NM_001135243.1:c.2860-1108A>G,\N,\N,17/26,Unknown significance,\N,intron_variant,2.278,0.001,1KG_SAS_AF,TCOF1
685300,5:149766385:T>C,NM_001135243.1:c.2860-1080T>C,\N,\N,17/26,Benign,\N,intron_variant,1.91,0.0212,1KG_AFR_AF,TCOF1
685301,5:149766398:G>A,NM_001135243.1:c.2860-1067G>A,\N,\N,17/26,Unknown significance,\N,intron_variant,1.235,\N,\N,TCOF1
685302,5:149766417:G>A,NM_001135243.1:c.2860-1048G>A,\N,\N,17/26,Benign,\N,intron_variant,5.803,0.0562,1KG_AMR_AF,TCOF1
685303,5:149766428:A>G,NM_001135243.1:c.2860-1037A>G,\N,\N,17/26,Unknown significance,\N,intron_variant,0.242,0.001,1KG_SAS_AF,TCOF1
685304,5:149766430:A>G,NM_001135243.1:c.2860-1035A>G,\N,\N,17/26,Unknown significance,\N,intron_variant,1.124,\N,\N,TCOF1
685305,5:149766432:C>T,NM_001135243.1:c.2860-1033C>T,\N,\N,17/26,Benign,\N,intron_variant,4.218,0.0151,1KG_AFR_AF,TCOF1
685306,5:149766448:A>G,NM_001135243.1:c.2860-1017A>G,\N,\N,17/26,Unknown significance,\N,intron_variant,3.655,\N,\N,TCOF1
685307,5:149766455:G>A,NM_001135243.1:c.2860-1010G>A,\N,\N,17/26,Unknown significance,\N,intron_variant,9.559,\N,\N,TCOF1
685308,5:149766464:G>C,NM_001135243.1:c.2860-1001G>C,\N,\N,17/26,Unknown significance,\N,intron_variant,3.289,0.001,1KG_EUR_AF,TCOF1
685309,5:149766495:C>T,NM_001135243.1:c.2860-970C>T,\N,\N,17/26,Unknown significance,\N,intron_variant,1.427,0.0023,1KG_AFR_AF,TCOF1
685310,5:149766545:C>T,NM_001135243.1:c.2860-920C>T,\N,\N,17/26,Unknown significance,\N,intron_variant,0.621,0.001,1KG_EAS_AF,TCOF1
685311,5:149766589:C>G,NM_001135243.1:c.2860-876C>G,\N,\N,17/26,Unknown significance,\N,intron_variant,0.617,\N,\N,TCOF1
685312,5:149766590:G>A,NM_001135243.1:c.2860-875G>A,\N,\N,17/26,Unknown significance,\N,intron_variant,2.466,0.001,1KG_EAS_AF,TCOF1
685313,5:149766596:C>T,NM_001135243.1:c.2860-869C>T,\N,\N,17/26,Unknown significance,\N,intron_variant,2.885,\N,\N,TCOF1
685314,5:149766622:C>T,NM_001135243.1:c.2860-843C>T,\N,\N,17/26,Benign,\N,intron_variant,5.375,0.0144,1KG_AMR_AF,TCOF1
685315,5:149766655:A>G,NM_001135243.1:c.2860-810A>G,\N,\N,17/26,Benign,\N,intron_variant,0.437,0.0295,1KG_AFR_AF,TCOF1
685316,5:149766722:A>G,NM_001135243.1:c.2860-743A>G,\N,\N,17/26,Unknown significance,\N,intron_variant,2.228,\N,\N,TCOF1
685317,5:149766725:A>G,NM_001135243.1:c.2860-740A>G,\N,\N,17/26,Unknown significance,\N,intron_variant,3.208,\N,\N,TCOF1
685318,5:149766756:C>T,NM_001135243.1:c.2860-709C>T,\N,\N,17/26,Unknown significance,\N,intron_variant,4.297,\N,\N,TCOF1
685319,5:149766766:T>C,NM_001135243.1:c.2860-699T>C,\N,\N,17/26,Benign,\N,intron_variant,3.203,0.0174,1KG_AFR_AF,TCOF1
685320,5:149766776:C>T,NM_001135243.1:c.2860-689C>T,\N,\N,17/26,Unknown significance,\N,intron_variant,3.726,0.001,1KG_SAS_AF,TCOF1
685321,5:149766776:CCT>C,NM_001135243.1:c.2860-688_2860-687del,\N,\N,17/26,Unknown significance,\N,intron_variant,\N,\N,\N,TCOF1
685322,5:149766783:G>T,NM_001135243.1:c.2860-682G>T,\N,\N,17/26,Unknown significance,\N,intron_variant,2.373,0.0008,1KG_AFR_AF,TCOF1
685323,5:149766790:G>A,NM_001135243.1:c.2860-675G>A,\N,\N,17/26,Benign,\N,intron_variant,5.763,0.499,1KG_SAS_AF,TCOF1
685324,5:149766808:A>C,NM_001135243.1:c.2860-657A>C,\N,\N,17/26,Unknown significance,\N,intron_variant,4.744,\N,\N,TCOF1
685325,5:149766809:C>T,NM_001135243.1:c.2860-656C>T,\N,\N,17/26,Unknown significance,\N,intron_variant,1.955,0.003,1KG_AFR_AF,TCOF1
685326,5:149766810:G>A,NM_001135243.1:c.2860-655G>A,\N,\N,17/26,Unknown significance,\N,intron_variant,1.807,0.0015,1KG_AFR_AF,TCOF1
685327,5:149766814:G>A,NM_001135243.1:c.2860-651G>A,\N,\N,17/26,Unknown significance,\N,intron_variant,1.476,0.001,1KG_EUR_AF,TCOF1
685328,5:149766867:C>T,NM_001135243.1:c.2860-598C>T,\N,\N,17/26,Unknown significance,\N,intron_variant,2.901,0.0008,1KG_AFR_AF,TCOF1
685329,5:149766869:C>CA,NM_001135243.1:c.2860-594dup,\N,\N,17/26,Unknown significance,\N,intron_variant,2.807,0.0038,1KG_AFR_AF,TCOF1
685330,5:149766890:A>AT,NM_001135243.1:c.2860-568dup,\N,\N,17/26,Unknown significance,\N,intron_variant,0.92,\N,\N,TCOF1
685331,5:149766904:G>A,NM_001135243.1:c.2860-561G>A,\N,\N,17/26,Unknown significance,\N,intron_variant,5.297,0.002,1KG_EAS_AF,TCOF1
685332,5:149766957:G>A,NM_001135243.1:c.2860-508G>A,\N,\N,17/26,Unknown significance,\N,intron_variant,6.221,\N,\N,TCOF1
685333,5:149766959:T>C,NM_001135243.1:c.2860-506T>C,\N,\N,17/26,Unknown significance,\N,intron_variant,5.051,0.001,1KG_EAS_AF,TCOF1
685334,5:149766987:C>T,NM_001135243.1:c.2860-478C>T,\N,\N,17/26,Unknown significance,\N,intron_variant,3.486,\N,\N,TCOF1
685335,5:149766994:G>A,NM_001135243.1:c.2860-471G>A,\N,\N,17/26,Unknown significance,\N,intron_variant,0.995,0.001,1KG_EAS_AF,TCOF1
685336,5:149767002:C>T,NM_001135243.1:c.2860-463C>T,\N,\N,17/26,Unknown significance,\N,intron_variant,2.814,0.0008,1KG_AFR_AF,TCOF1
685337,5:149767066:A>G,NM_001135243.1:c.2860-399A>G,\N,\N,17/26,Unknown significance,\N,intron_variant,2.067,\N,\N,TCOF1
685338,5:149767069:C>T,NM_001135243.1:c.2860-396C>T,\N,\N,17/26,Unknown significance,\N,intron_variant,4.795,\N,\N,TCOF1
685339,5:149767083:T>C,NM_001135243.1:c.2860-382T>C,\N,\N,17/26,Benign,\N,intron_variant,4.71,0.68,1KG_AFR_AF,TCOF1
685340,5:149767094:GC>G,NM_001135243.1:c.2860-369del,\N,\N,17/26,Benign,\N,intron_variant,6.141,0.1309,1KG_AFR_AF,TCOF1
685341,5:149767096:C>T,NM_001135243.1:c.2860-369C>T,\N,\N,17/26,Unknown significance,\N,intron_variant,5.947,\N,\N,TCOF1
685342,5:149767097:G>T,NM_001135243.1:c.2860-368G>T,\N,\N,17/26,Benign,\N,intron_variant,1.649,0.499,1KG_SAS_AF,TCOF1
685343,5:149767133:C>G,NM_001135243.1:c.2860-332C>G,\N,\N,17/26,Unknown significance,\N,intron_variant,7.652,\N,\N,TCOF1
685344,5:149767137:G>A,NM_001135243.1:c.2860-328G>A,\N,\N,17/26,Unknown significance,\N,intron_variant,3.517,\N,\N,TCOF1
685345,5:149767154:C>T,NM_001135243.1:c.2860-311C>T,\N,\N,17/26,Unknown significance,\N,intron_variant,3.515,\N,\N,TCOF1
685346,5:149767167:C>T,NM_001135243.1:c.2860-298C>T,\N,\N,17/26,Unknown significance,\N,intron_variant,5.16,0.001,1KG_SAS_AF,TCOF1
685347,5:149767179:C>T,NM_001135243.1:c.2860-286C>T,\N,\N,17/26,Unknown significance,\N,intron_variant,3.429,\N,\N,TCOF1
685348,5:149767203:G>T,NM_001135243.1:c.2860-262G>T,\N,\N,17/26,Unknown significance,\N,intron_variant,2.855,0.001,1KG_SAS_AF,TCOF1
685349,5:149767205:A>G,NM_001135243.1:c.2860-260A>G,\N,\N,17/26,Unknown significance,\N,intron_variant,3.315,0.002,1KG_SAS_AF,TCOF1
685350,5:149767217:A>G,NM_001135243.1:c.2860-248A>G,\N,\N,17/26,Unknown significance,\N,intron_variant,5.587,0.001,1KG_EUR_AF,TCOF1
685351,5:149767229:G>A,NM_001135243.1:c.2860-236G>A,\N,\N,17/26,Unknown significance,\N,intron_variant,3.478,0.001,1KG_SAS_AF,TCOF1
685352,5:149767249:T>A,NM_001135243.1:c.2860-216T>A,\N,\N,17/26,Unknown significance,\N,intron_variant,8.208,\N,\N,TCOF1
685353,5:149767250:C>T,NM_001135243.1:c.2860-215C>T,\N,\N,17/26,Unknown significance,\N,intron_variant,6.166,\N,\N,TCOF1
685354,5:149767253:G>T,NM_001135243.1:c.2860-212G>T,\N,\N,17/26,Unknown significance,\N,intron_variant,0.45,\N,\N,TCOF1
685355,5:149767291:A>C,NM_001135243.1:c.2860-174A>C,\N,\N,17/26,Unknown significance,\N,intron_variant,1.319,\N,\N,TCOF1
685356,5:149767294:A>C,NM_001135243.1:c.2860-171A>C,\N,\N,17/26,Benign,\N,intron_variant,0.993,0.0476,1KG_AMR_AF,TCOF1
685357,5:149767349:G>T,NM_001135243.1:c.2860-116G>T,\N,\N,17/26,Unknown significance,\N,intron_variant,6.412,\N,\N,TCOF1
685358,5:149767393:C>T,NM_001135243.1:c.2860-72C>T,\N,\N,17/26,Unknown significance,\N,intron_variant,5.044,\N,\N,TCOF1
685359,5:149767401:A>G,NM_001135243.1:c.2860-64A>G,\N,\N,17/26,Unknown significance,\N,intron_variant,3.781,0.001,1KG_EUR_AF,TCOF1
685360,5:149767405:C>T,NM_001135243.1:c.2860-60C>T,\N,\N,17/26,Unknown significance,\N,intron_variant,4.733,0.0008,1KG_AFR_AF,TCOF1
685361,5:149767406:C>T,NM_001135243.1:c.2860-59C>T,\N,\N,17/26,Unknown significance,\N,intron_variant,2.748,0.0008,1KG_AFR_AF,TCOF1
685362,5:149767411:T>C,NM_001135243.1:c.2860-54T>C,\N,\N,17/26,Unknown significance,\N,intron_variant,9.232,0.0008,1KG_AFR_AF,TCOF1
685363,5:149767423:G>A,NM_001135243.1:c.2860-42G>A,\N,\N,17/26,Unknown significance,\N,intron_variant,18.86,0.0000156912,EXAC_NFE_AF,TCOF1
685364,5:149767425:C>T,NM_001135243.1:c.2860-40C>T,\N,\N,17/26,Unknown significance,\N,intron_variant,20.3,0.00113636,EXAC_OTH_AF,TCOF1
685365,5:149767433:A>G,NM_001135243.1:c.2860-32A>G,\N,\N,17/26,Unknown significance,\N,intron_variant,21.3,0.0008,1KG_AFR_AF,TCOF1
685366,5:149767435:T>TG,NM_001135243.1:c.2860-23dup,\N,\N,17/26,Unknown significance,\N,intron_variant,18.59,0.000901713,EXAC_AFR_AF,TCOF1
685367,5:149767435:TG>T,NM_001135243.1:c.2860-23del,\N,\N,17/26,Unknown significance,\N,intron_variant,18.88,0.0000870019,EXAC_AMR_AF,TCOF1
685368,5:149767438:G>A,NM_001135243.1:c.2860-27G>A,\N,\N,17/26,Unknown significance,\N,intron_variant,19.87,0.000116713,EXAC_EAS_AF,TCOF1
685369,5:149767444:G>A,NM_001135243.1:c.2860-21G>A,\N,\N,17/26,Unknown significance,\N,intron_variant,19.86,0.002,1KG_EAS_AF,TCOF1
685370,5:149767450:T>A,NM_001135243.1:c.2860-15T>A,\N,\N,17/26,Unknown significance,\N,intron_variant,20.5,0.000151883,EXAC_FIN_AF,TCOF1
685371,5:149767451:T>C,NM_001135243.1:c.2860-14T>C,\N,\N,17/26,Unknown significance,\N,intron_variant,19.61,0.000348028,EXAC_EAS_AF,TCOF1
685372,5:149767461:C>T,NM_001135243.1:c.2860-4C>T,\N,\N,17/26,Unknown significance,\N,splice_region_variant&intron_variant,16.85,\N,\N,TCOF1
685373,5:149767462:A>G,NM_001135243.1:c.2860-3A>G,\N,\N,17/26,Pathogenic,Treacher-Collins syndrome,splice_region_variant&intron_variant,16.42,\N,\N,TCOF1
685374,5:149767464:G>A,NM_001135243.1:c.2860-1G>A,\N,\N,17/26,Pathogenic,Treacher-Collins syndrome,splice_acceptor_variant,26.6,\N,\N,TCOF1
685375,5:149767464:G>C,NM_001135243.1:c.2860-1G>C,\N,\N,17/26,Pathogenic,Treacher-Collins syndrome,splice_acceptor_variant,25.3,\N,\N,TCOF1
685376,5:149767465:G>A,NM_001135243.1:c.2860G>A,NP_001128715.1:p.Val954Met,18/27,\N,Pathogenic,Treacher-Collins syndrome,missense_variant&splice_region_variant,31,\N,\N,TCOF1
685377,5:149767475:CCCCT>C,NM_001135243.1:c.2872_2875del,NP_001128715.1:p.Pro958Ter,18/27,\N,Unknown significance,\N,frameshift_variant,36,0.0000151226,EXAC_NFE_AF,TCOF1
685378,5:149767480:C>CT,NM_001135243.1:c.2876dup,NP_001128715.1:p.Ile960AspfsTer6,18/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,36,\N,\N,TCOF1
685379,5:149767482:GATTTTTGTCGACCCTAATCGTAGTCCAGCTGGCCCAGCTGCT>G,NM_001135243.1:c.2879_2920del,NP_001128715.1:p.Ile960_Ala973del,18/27,\N,Unknown significance,\N,inframe_deletion,22.6,\N,\N,TCOF1
685380,5:149767488:T>G,NM_001135243.1:c.2883T>G,NP_001128715.1:p.Phe961Leu,18/27,\N,Unknown significance,\N,missense_variant,31,0.000226963,EVS_AA_AF,TCOF1
685381,5:149767491:C>T,NM_001135243.1:c.2886C>T,NP_001128715.1:p.Val962=,18/27,\N,Unknown significance,\N,synonymous_variant,21.3,0.0000301623,EXAC_NFE_AF,TCOF1
685382,5:149767494:C>A,NM_001135243.1:c.2889C>A,NP_001128715.1:p.Asp963Glu,18/27,\N,Unknown significance,\N,missense_variant,25.2,0.0000150734,EXAC_NFE_AF,TCOF1
685383,5:149767498:A>G,NM_001135243.1:c.2893A>G,NP_001128715.1:p.Asn965Asp,18/27,\N,Unknown significance,\N,missense_variant,29.8,0.000060562,EXAC_SAS_AF,TCOF1
685384,5:149767502:G>A,NM_001135243.1:c.2897G>A,NP_001128715.1:p.Arg966His,18/27,\N,Pathogenic,Deafness,missense_variant,34,\N,\N,TCOF1
685385,5:149767510:G>A,NM_001135243.1:c.2905G>A,NP_001128715.1:p.Ala969Thr,18/27,\N,Unknown significance,\N,missense_variant,34,0.0000753148,EXAC_NFE_AF,TCOF1
685386,5:149767515:C>A,NM_001135243.1:c.2910C>A,NP_001128715.1:p.Gly970=,18/27,\N,Unknown significance,\N,synonymous_variant,19.84,0.000232558,EVS_EA_AF,TCOF1
685387,5:149767528:C>G,NM_001135243.1:c.2923C>G,NP_001128715.1:p.Pro975Ala,18/27,\N,Unknown significance,\N,missense_variant,23.8,0.000226963,EVS_AA_AF,TCOF1
685388,5:149767530:C>T,NM_001135243.1:c.2925C>T,NP_001128715.1:p.Pro975=,18/27,\N,Unknown significance,\N,synonymous_variant,18.72,0.000150711,EXAC_NFE_AF,TCOF1
685389,5:149767531:G>A,NM_001135243.1:c.2926G>A,NP_001128715.1:p.Ala976Thr,18/27,\N,Likely benign,\N,missense_variant,15.14,0.00110865,EXAC_OTH_AF,TCOF1
685390,5:149767539:C>G,NM_001135243.1:c.2934C>G,NP_001128715.1:p.Ala978=,18/27,\N,Unknown significance,\N,synonymous_variant,14.78,0.0000150761,EXAC_NFE_AF,TCOF1
685391,5:149767541:A>G,NM_001135243.1:c.2936A>G,NP_001128715.1:p.Gln979Arg,18/27,\N,Likely benign,\N,missense_variant,23.5,0.000151286,EXAC_FIN_AF,TCOF1
685392,5:149767544:C>T,NM_000356.3:c.2708C>T,NP_000347.2:p.Ala903Val,17/26,\N,Unknown significance,\N,missense_variant,27.8,0.001,1KG_SAS_AF,TCOF1
685393,5:149767550:G>A,NM_001135243.1:c.2945G>A,NP_001128715.1:p.Ser982Asn,18/27,\N,Likely benign,\N,missense_variant,0.032,0.0000150934,EXAC_NFE_AF,TCOF1
685394,5:149767555:C>T,NM_001135244.1:c.2950C>T,NP_001128716.1:p.Pro984Ser,18/26,\N,Likely benign,\N,missense_variant,15.39,0.001,1KG_EAS_AF,TCOF1
685395,5:149767556:C>T,NM_001135243.1:c.2951C>T,NP_001128715.1:p.Pro984Leu,18/27,\N,Likely benign,\N,missense_variant,12.37,0.000121124,EXAC_SAS_AF,TCOF1
685396,5:149767557:G>A,NM_001135243.1:c.2952G>A,NP_001128715.1:p.Pro984=,18/27,\N,Unknown significance,\N,synonymous_variant,9.026,0.0000150998,EXAC_NFE_AF,TCOF1
685397,5:149767563:G>A,NM_001135243.1:c.2958G>A,NP_001128715.1:p.Lys986=,18/27,\N,Unknown significance,\N,synonymous_variant,9.973,0.0001731,EXAC_AMR_AF,TCOF1
685398,5:149767566:C>T,NM_001135243.1:c.2961C>T,NP_001128715.1:p.Ala987=,18/27,\N,Unknown significance,\N,synonymous_variant,13.89,0.0000865501,EXAC_AMR_AF,TCOF1
685399,5:149767567:C>T,NM_001135243.1:c.2962C>T,NP_001128715.1:p.Arg988Ter,18/27,\N,Pathogenic,Treacher-Collins syndrome,stop_gained,38,\N,\N,TCOF1
685400,5:149767568:G>A,NM_001135243.1:c.2963G>A,NP_001128715.1:p.Arg988Gln,18/27,\N,Likely benign,\N,missense_variant,8.084,0.000060562,EXAC_SAS_AF,TCOF1
685401,5:149767574:C>T,NM_001135243.1:c.2969C>T,NP_001128715.1:p.Ser990Leu,18/27,\N,Likely benign,\N,missense_variant,19.96,0.001,1KG_EUR_AF,TCOF1
685402,5:149767574:C>A,NM_001135243.1:c.2969C>A,NP_001128715.1:p.Ser990Ter,18/27,\N,Pathogenic,Treacher-Collins syndrome,stop_gained,36,\N,\N,TCOF1
685403,5:149767575:G>A,NM_001135243.1:c.2970G>A,NP_001128715.1:p.Ser990=,18/27,\N,Unknown significance,\N,synonymous_variant,13.31,0.00222222,EXAC_OTH_AF,TCOF1
685404,5:149767575:G>C,NM_001135243.1:c.2970G>C,NP_001128715.1:p.Ser990=,18/27,\N,Unknown significance,\N,synonymous_variant,9.873,0.000015108,EXAC_NFE_AF,TCOF1
685405,5:149767576:G>T,NM_001135243.1:c.2971G>T,NP_001128715.1:p.Glu991Ter,18/27,\N,Pathogenic,Treacher-Collins syndrome,stop_gained,39,\N,\N,TCOF1
685406,5:149767580:G>A,NM_001135243.1:c.2975G>A,NP_001128715.1:p.Ser992Asn,18/27,\N,Likely benign,\N,missense_variant,21.7,0.000060562,EXAC_SAS_AF,TCOF1
685407,5:149767580:G>C,NM_001135243.1:c.2975G>C,NP_001128715.1:p.Ser992Thr,18/27,\N,Likely benign,\N,missense_variant,12.8,0.000232558,EVS_EA_AF,TCOF1
685408,5:149767592:GCTC>G,NM_001135243.1:c.2995_2997del,NP_001128715.1:p.Ser999del,18/27,\N,Unknown significance,\N,inframe_deletion,16.95,0.0000151121,EXAC_NFE_AF,TCOF1
685409,5:149767592:G>A,NM_001135243.1:c.2987G>A,NP_001128715.1:p.Ser996Asn,18/27,\N,Unknown significance,\N,missense_variant,23.4,0.0000605694,EXAC_SAS_AF,TCOF1
685410,5:149767602:C>T,NM_001135243.1:c.2997C>T,NP_001128715.1:p.Ser999=,18/27,\N,Unknown significance,\N,synonymous_variant,16.89,0.000290923,EXAC_AFR_AF,TCOF1
685411,5:149767603:G>A,NM_001135243.1:c.2998G>A,NP_001128715.1:p.Glu1000Lys,18/27,\N,Unknown significance,\N,missense_variant,27,0.0000865951,EXAC_AMR_AF,TCOF1
685412,5:149767607:G>T,NM_001135243.1:c.3002G>T,NP_001128715.1:p.Ser1001Ile,18/27,\N,Unknown significance,\N,missense_variant,29.7,0.000115821,EXAC_EAS_AF,TCOF1
685413,5:149767608:C>G,NM_001135243.1:c.3003C>G,NP_001128715.1:p.Ser1001Arg,18/27,\N,Likely benign,\N,missense_variant,28.5,0.0000151263,EXAC_NFE_AF,TCOF1
685414,5:149767608:C>T,NM_001135243.1:c.3003C>T,NP_001128715.1:p.Ser1001=,18/27,\N,Unknown significance,\N,synonymous_variant,20.9,0.0023,1KG_AFR_AF,TCOF1
685415,5:149767609:G>A,NM_001135243.1:c.3004G>A,NP_001128715.1:p.Glu1002Lys,18/27,\N,Unknown significance,\N,missense_variant,34,0.000097012,EXAC_AFR_AF,TCOF1
685416,5:149767611:G>A,NM_001135243.1:c.3006G>A,NP_001128715.1:p.Glu1002=,18/27,\N,Unknown significance,\N,synonymous_variant,12.79,0.0000151272,EXAC_NFE_AF,TCOF1
685417,5:149767614:T>C,NM_001135243.1:c.3009T>C,NP_001128715.1:p.Asp1003=,18/27,\N,Unknown significance,\N,synonymous_variant,5.372,0.0000302508,EXAC_NFE_AF,TCOF1
685418,5:149767621:G>A,NM_001135243.1:c.3016G>A,NP_001128715.1:p.Val1006Met,18/27,\N,Likely benign,\N,missense_variant,0.293,0.000226963,EVS_AA_AF,TCOF1
685419,5:149767624:A>T,NM_001135243.1:c.3019A>T,NP_001128715.1:p.Ile1007Phe,18/27,\N,Unknown significance,\N,missense_variant,23.9,0.0000151469,EXAC_NFE_AF,TCOF1
685420,5:149767626:C>T,NM_001135243.1:c.3021C>T,NP_001128715.1:p.Ile1007=,18/27,\N,Unknown significance,\N,synonymous_variant,12.55,0.000151538,EXAC_NFE_AF,TCOF1
685421,5:149767627:C>T,NM_001135243.1:c.3022C>T,NP_001128715.1:p.Pro1008Ser,18/27,\N,Unknown significance,\N,missense_variant,14.99,0.0000866401,EXAC_AMR_AF,TCOF1
685422,5:149767630:G>A,NM_001135243.1:c.3025G>A,NP_001128715.1:p.Ala1009Thr,18/27,\N,Unknown significance,\N,missense_variant,27.4,0.000116279,EVS_EA_AF,TCOF1
685423,5:149767631:C>T,NM_001135243.1:c.3026C>T,NP_001128715.1:p.Ala1009Val,18/27,\N,Unknown significance,\N,missense_variant,26.1,0.000226963,EVS_AA_AF,TCOF1
685424,5:149767634:C>T,NM_001135243.1:c.3029C>T,NP_001128715.1:p.Thr1010Ile,18/27,\N,Unknown significance,\N,missense_variant,26.2,0.002,1KG_SAS_AF,TCOF1
685425,5:149767636:C>T,NM_001135243.1:c.3031C>T,NP_001128715.1:p.Gln1011Ter,18/27,\N,Pathogenic,Treacher-Collins syndrome,stop_gained,42,\N,\N,TCOF1
685426,5:149767641:C>T,NM_001135243.1:c.3036C>T,NP_001128715.1:p.Cys1012=,18/27,\N,Unknown significance,\N,synonymous_variant,6.009,0.0000606061,EXAC_SAS_AF,TCOF1
685427,5:149767642:T>C,NM_001135243.1:c.3037T>C,NP_001128715.1:p.Leu1013=,18/27,\N,Unknown significance,\N,synonymous_variant,0.049,0.00023175,EXAC_EAS_AF,TCOF1
685428,5:149767648:C>G,NM_001135243.1:c.3043C>G,NP_001128715.1:p.Pro1015Ala,18/27,\N,Unknown significance,\N,missense_variant,13.13,0.000015229,EXAC_NFE_AF,TCOF1
685429,5:149767649:C>T,NM_001135243.1:c.3044C>T,NP_001128715.1:p.Pro1015Leu,18/27,\N,Likely benign,\N,missense_variant&splice_region_variant,21.1,0.0000152351,EXAC_NFE_AF,TCOF1
685430,5:149767650:TG>T,NM_001135243.1:c.3046+1del,\N,18/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant&splice_region_variant,35,\N,\N,TCOF1
685431,5:149767652:G>A,NM_001135243.1:c.3046+1G>A,\N,\N,18/26,Pathogenic,Treacher-Collins syndrome,splice_donor_variant,24.4,\N,\N,TCOF1
685432,5:149767657:C>A,NM_001135243.1:c.3046+6C>A,\N,\N,18/26,Unknown significance,\N,splice_region_variant&intron_variant,10.36,0.0014,1KG_AMR_AF,TCOF1
685433,5:149767657:C>T,NM_001135243.1:c.3046+6C>T,\N,\N,18/26,Unknown significance,\N,splice_region_variant&intron_variant,8.82,0.000226963,EVS_AA_AF,TCOF1
685434,5:149767658:G>A,NM_001135243.1:c.3046+7G>A,\N,\N,18/26,Unknown significance,\N,splice_region_variant&intron_variant,1.112,0.0000611696,EXAC_NFE_AF,TCOF1
685435,5:149767671:A>G,NM_001135243.1:c.3046+20A>G,\N,\N,18/26,Unknown significance,\N,intron_variant,4.303,0.000227066,EVS_AA_AF,TCOF1
685436,5:149767672:G>A,NM_001135243.1:c.3046+21G>A,\N,\N,18/26,Unknown significance,\N,intron_variant,3.679,0.0000153879,EXAC_NFE_AF,TCOF1
685437,5:149767674:G>A,NM_001135243.1:c.3046+23G>A,\N,\N,18/26,Unknown significance,\N,intron_variant,4.387,\N,\N,TCOF1
685438,5:149767682:G>A,NM_001135243.1:c.3046+31G>A,\N,\N,18/26,Unknown significance,\N,intron_variant,5.362,0.0000608569,EXAC_SAS_AF,TCOF1
685439,5:149767684:G>C,NM_001135243.1:c.3046+33G>C,\N,\N,18/26,Unknown significance,\N,intron_variant,0.596,0.0000608865,EXAC_SAS_AF,TCOF1
685440,5:149767713:A>G,NM_001135243.1:c.3046+62A>G,\N,\N,18/26,Unknown significance,\N,intron_variant,10.57,0.0014,1KG_AMR_AF,TCOF1
685441,5:149767727:A>G,NM_001135243.1:c.3046+76A>G,\N,\N,18/26,Unknown significance,\N,intron_variant,8.325,\N,\N,TCOF1
685442,5:149767738:C>T,NM_001135243.1:c.3046+87C>T,\N,\N,18/26,Unknown significance,\N,intron_variant,5.865,\N,\N,TCOF1
685443,5:149767771:G>T,NM_001135243.1:c.3046+120G>T,\N,\N,18/26,Unknown significance,\N,intron_variant,6.563,\N,\N,TCOF1
685444,5:149767811:G>T,NM_001135243.1:c.3046+160G>T,\N,\N,18/26,Unknown significance,\N,intron_variant,2.113,0.0008,1KG_AFR_AF,TCOF1
685445,5:149767834:G>T,NM_001135243.1:c.3046+183G>T,\N,\N,18/26,Unknown significance,\N,intron_variant,2.696,\N,\N,TCOF1
685446,5:149767928:TAAGA>T,NM_001135243.1:c.3046+283_3046+286del,\N,\N,18/26,Unknown significance,\N,intron_variant,\N,\N,\N,TCOF1
685447,5:149767929:A>G,NM_001135243.1:c.3046+278A>G,\N,\N,18/26,Unknown significance,\N,intron_variant,2.38,\N,\N,TCOF1
685448,5:149767935:GA>G,NM_001135243.1:c.3046+286del,\N,\N,18/26,Benign,\N,intron_variant,1.107,0.0061,1KG_AFR_AF,TCOF1
685449,5:149767971:G>A,NM_001135243.1:c.3046+320G>A,\N,\N,18/26,Unknown significance,\N,intron_variant,2.058,\N,\N,TCOF1
685450,5:149768022:G>A,NM_001135243.1:c.3046+371G>A,\N,\N,18/26,Unknown significance,\N,intron_variant,4.649,\N,\N,TCOF1
685451,5:149768033:G>A,NM_001135243.1:c.3046+382G>A,\N,\N,18/26,Unknown significance,\N,intron_variant,6.703,0.002,1KG_SAS_AF,TCOF1
685452,5:149768113:T>C,NM_001135243.1:c.3046+462T>C,\N,\N,18/26,Benign,\N,intron_variant,3.649,0.1288,1KG_SAS_AF,TCOF1
685453,5:149768125:T>C,NM_001135243.1:c.3046+474T>C,\N,\N,18/26,Unknown significance,\N,intron_variant,2.615,0.0014,1KG_AMR_AF,TCOF1
685454,5:149768176:A>G,NM_001135243.1:c.3046+525A>G,\N,\N,18/26,Benign,\N,intron_variant,4.68,0.0061,1KG_AFR_AF,TCOF1
685455,5:149768189:C>T,NM_001135243.1:c.3046+538C>T,\N,\N,18/26,Unknown significance,\N,intron_variant,5.248,\N,\N,TCOF1
685456,5:149768222:C>A,NM_001135243.1:c.3046+571C>A,\N,\N,18/26,Unknown significance,\N,intron_variant,1.505,\N,\N,TCOF1
685457,5:149768222:C>T,NM_001135243.1:c.3046+571C>T,\N,\N,18/26,Unknown significance,\N,intron_variant,1.473,\N,\N,TCOF1
685458,5:149768260:G>A,NM_001135243.1:c.3046+609G>A,\N,\N,18/26,Unknown significance,\N,intron_variant,4.356,0.0029,1KG_AMR_AF,TCOF1
685459,5:149768290:C>A,NM_001135243.1:c.3046+639C>A,\N,\N,18/26,Unknown significance,\N,intron_variant,5.691,\N,\N,TCOF1
685460,5:149768320:G>A,NM_001135243.1:c.3046+669G>A,\N,\N,18/26,Unknown significance,\N,intron_variant,2.878,0.0015,1KG_AFR_AF,TCOF1
685461,5:149768321:C>T,NM_001135243.1:c.3046+670C>T,\N,\N,18/26,Benign,\N,intron_variant,1.513,0.0209,1KG_EUR_AF,TCOF1
685462,5:149768322:G>T,NM_001135243.1:c.3046+671G>T,\N,\N,18/26,Unknown significance,\N,intron_variant,0.806,\N,\N,TCOF1
685463,5:149768330:G>A,NM_001135243.1:c.3046+679G>A,\N,\N,18/26,Unknown significance,\N,intron_variant,0.203,0.0038,1KG_AFR_AF,TCOF1
685464,5:149768335:T>C,NM_001135243.1:c.3046+684T>C,\N,\N,18/26,Unknown significance,\N,intron_variant,3.22,0.003,1KG_AFR_AF,TCOF1
685465,5:149768366:C>T,NM_001135243.1:c.3046+715C>T,\N,\N,18/26,Unknown significance,\N,intron_variant,1.395,\N,\N,TCOF1
685466,5:149768367:G>A,NM_001135243.1:c.3046+716G>A,\N,\N,18/26,Unknown significance,\N,intron_variant,0.079,0.0008,1KG_AFR_AF,TCOF1
685467,5:149768381:G>A,NM_001135243.1:c.3046+730G>A,\N,\N,18/26,Benign,\N,intron_variant,1.33,0.122,1KG_EAS_AF,TCOF1
685468,5:149768391:G>A,NM_001135243.1:c.3046+740G>A,\N,\N,18/26,Unknown significance,\N,intron_variant,3.909,0.0008,1KG_AFR_AF,TCOF1
685469,5:149768402:G>A,NM_001135243.1:c.3046+751G>A,\N,\N,18/26,Unknown significance,\N,intron_variant,2.591,0.001,1KG_EUR_AF,TCOF1
685470,5:149768404:G>A,NM_001135243.1:c.3046+753G>A,\N,\N,18/26,Unknown significance,\N,intron_variant,3.201,0.001,1KG_EAS_AF,TCOF1
685471,5:149768409:G>A,NM_001135243.1:c.3046+758G>A,\N,\N,18/26,Unknown significance,\N,intron_variant,1.847,\N,\N,TCOF1
685472,5:149768415:A>G,NM_001135243.1:c.3046+764A>G,\N,\N,18/26,Unknown significance,\N,intron_variant,1.58,\N,\N,TCOF1
685473,5:149768446:A>G,NM_001135243.1:c.3046+795A>G,\N,\N,18/26,Unknown significance,\N,intron_variant,0.68,0.0031,1KG_SAS_AF,TCOF1
685474,5:149768456:G>C,NM_001135243.1:c.3046+805G>C,\N,\N,18/26,Benign,\N,intron_variant,0.73,0.0212,1KG_AFR_AF,TCOF1
685475,5:149768458:A>G,NM_001135243.1:c.3046+807A>G,\N,\N,18/26,Unknown significance,\N,intron_variant,3.882,0.001,1KG_SAS_AF,TCOF1
685476,5:149768472:G>A,NM_001135243.1:c.3046+821G>A,\N,\N,18/26,Unknown significance,\N,intron_variant,0.778,0.0041,1KG_SAS_AF,TCOF1
685477,5:149768488:C>G,NM_001135243.1:c.3046+837C>G,\N,\N,18/26,Unknown significance,\N,intron_variant,4.547,0.003,1KG_EUR_AF,TCOF1
685478,5:149768512:TAG>T,NM_001135243.1:c.3046+865_3046+866del,\N,\N,18/26,Benign,\N,intron_variant,4.028,0.0184,1KG_SAS_AF,TCOF1
685479,5:149768583:C>G,NM_001135243.1:c.3047-867C>G,\N,\N,18/26,Unknown significance,\N,intron_variant,3.142,0.001,1KG_EUR_AF,TCOF1
685480,5:149768586:T>A,NM_001135243.1:c.3047-864T>A,\N,\N,18/26,Unknown significance,\N,intron_variant,7.461,\N,\N,TCOF1
685481,5:149768586:T>C,NM_001135243.1:c.3047-864T>C,\N,\N,18/26,Unknown significance,\N,intron_variant,4.76,0.0031,1KG_SAS_AF,TCOF1
685482,5:149768644:A>G,NM_001135243.1:c.3047-806A>G,\N,\N,18/26,Unknown significance,\N,intron_variant,4.019,0.0008,1KG_AFR_AF,TCOF1
685483,5:149768688:A>G,NM_001135243.1:c.3047-762A>G,\N,\N,18/26,Unknown significance,\N,intron_variant,0.243,0.0029,1KG_AMR_AF,TCOF1
685484,5:149768696:GTGTA>G,NM_001135243.1:c.3047-750_3047-747del,\N,\N,18/26,Unknown significance,\N,intron_variant,4.801,0.003,1KG_EAS_AF,TCOF1
685485,5:149768749:C>T,NM_001135243.1:c.3047-701C>T,\N,\N,18/26,Benign,\N,intron_variant,6.311,0.0197,1KG_AFR_AF,TCOF1
685486,5:149768753:A>G,NM_001135243.1:c.3047-697A>G,\N,\N,18/26,Unknown significance,\N,intron_variant,11.04,\N,\N,TCOF1
685487,5:149768757:C>A,NM_001135243.1:c.3047-693C>A,\N,\N,18/26,Unknown significance,\N,intron_variant,14.09,\N,\N,TCOF1
685488,5:149768807:T>C,NM_001135243.1:c.3047-643T>C,\N,\N,18/26,Unknown significance,\N,intron_variant,4.355,0.001,1KG_SAS_AF,TCOF1
685489,5:149768828:C>T,NM_001135243.1:c.3047-622C>T,\N,\N,18/26,Unknown significance,\N,intron_variant,2.398,0.0008,1KG_AFR_AF,TCOF1
685490,5:149768830:T>C,NM_001135243.1:c.3047-620T>C,\N,\N,18/26,Benign,\N,intron_variant,2.015,0.1157,1KG_AFR_AF,TCOF1
685491,5:149768848:C>T,NM_001135243.1:c.3047-602C>T,\N,\N,18/26,Unknown significance,\N,intron_variant,5.402,\N,\N,TCOF1
685492,5:149768853:C>T,NM_001135243.1:c.3047-597C>T,\N,\N,18/26,Unknown significance,\N,intron_variant,4.775,\N,\N,TCOF1
685493,5:149768864:G>A,NM_001135243.1:c.3047-586G>A,\N,\N,18/26,Benign,\N,intron_variant,0.736,0.0076,1KG_AFR_AF,TCOF1
685494,5:149768873:C>A,NM_001135243.1:c.3047-577C>A,\N,\N,18/26,Unknown significance,\N,intron_variant,4.901,0.002,1KG_SAS_AF,TCOF1
685495,5:149768877:C>T,NM_001135243.1:c.3047-573C>T,\N,\N,18/26,Benign,\N,intron_variant,3.583,0.2322,1KG_AFR_AF,TCOF1
685496,5:149768897:C>G,NM_001135243.1:c.3047-553C>G,\N,\N,18/26,Benign,\N,intron_variant,1.542,0.0072,1KG_SAS_AF,TCOF1
685497,5:149768908:C>T,NM_001135243.1:c.3047-542C>T,\N,\N,18/26,Benign,\N,intron_variant,1.941,0.0139,1KG_EAS_AF,TCOF1
685498,5:149768909:A>G,NM_001135243.1:c.3047-541A>G,\N,\N,18/26,Benign,\N,intron_variant,1.46,0.0787,1KG_AFR_AF,TCOF1
685499,5:149769028:G>A,NM_001135243.1:c.3047-422G>A,\N,\N,18/26,Unknown significance,\N,intron_variant,8.873,\N,\N,TCOF1
685500,5:149769052:T>C,NM_001135243.1:c.3047-398T>C,\N,\N,18/26,Unknown significance,\N,intron_variant,0.245,0.002,1KG_EUR_AF,TCOF1
685501,5:149769087:C>T,NM_001135243.1:c.3047-363C>T,\N,\N,18/26,Unknown significance,\N,intron_variant,8.658,\N,\N,TCOF1
685502,5:149769091:T>G,NM_001135243.1:c.3047-359T>G,\N,\N,18/26,Unknown significance,\N,intron_variant,8.445,\N,\N,TCOF1
685503,5:149769122:C>T,NM_001135243.1:c.3047-328C>T,\N,\N,18/26,Unknown significance,\N,intron_variant,2.319,0.001,1KG_SAS_AF,TCOF1
685504,5:149769133:G>T,NM_001135243.1:c.3047-317G>T,\N,\N,18/26,Unknown significance,\N,intron_variant,3.023,\N,\N,TCOF1
685505,5:149769138:G>A,NM_001135243.1:c.3047-312G>A,\N,\N,18/26,Benign,\N,intron_variant,3.674,0.0119,1KG_EAS_AF,TCOF1
685506,5:149769141:A>T,NM_001135243.1:c.3047-309A>T,\N,\N,18/26,Unknown significance,\N,intron_variant,2.409,0.001,1KG_SAS_AF,TCOF1
685507,5:149769154:C>T,NM_001135243.1:c.3047-296C>T,\N,\N,18/26,Unknown significance,\N,intron_variant,4.01,0.0014,1KG_AMR_AF,TCOF1
685508,5:149769180:T>C,NM_001135243.1:c.3047-270T>C,\N,\N,18/26,Unknown significance,\N,intron_variant,3.317,0.0014,1KG_AMR_AF,TCOF1
685509,5:149769188:C>T,NM_001135243.1:c.3047-262C>T,\N,\N,18/26,Unknown significance,\N,intron_variant,2.029,\N,\N,TCOF1
685510,5:149769203:G>A,NM_001135243.1:c.3047-247G>A,\N,\N,18/26,Unknown significance,\N,intron_variant,3.408,0.001,1KG_EUR_AF,TCOF1
685511,5:149769230:C>T,NM_001135243.1:c.3047-220C>T,\N,\N,18/26,Unknown significance,\N,intron_variant,1.555,0.001,1KG_EAS_AF,TCOF1
685512,5:149769252:C>T,NM_001135243.1:c.3047-198C>T,\N,\N,18/26,Unknown significance,\N,intron_variant,5.615,\N,\N,TCOF1
685513,5:149769329:C>T,NM_001135243.1:c.3047-121C>T,\N,\N,18/26,Unknown significance,\N,intron_variant,8.246,0.001,1KG_SAS_AF,TCOF1
685514,5:149769338:C>G,NM_001135243.1:c.3047-112C>G,\N,\N,18/26,Benign,\N,intron_variant,5.928,0.0129,1KG_EAS_AF,TCOF1
685515,5:149769370:G>A,NM_001135243.1:c.3047-80G>A,\N,\N,18/26,Unknown significance,\N,intron_variant,3.811,0.001,1KG_SAS_AF,TCOF1
685516,5:149769388:C>T,NM_001135243.1:c.3047-62C>T,\N,\N,18/26,Unknown significance,\N,intron_variant,4.964,0.0014,1KG_AMR_AF,TCOF1
685517,5:149769389:G>A,NM_001135243.1:c.3047-61G>A,\N,\N,18/26,Unknown significance,\N,intron_variant,2.58,0.0014,1KG_AMR_AF,TCOF1
685518,5:149769401:G>A,NM_001135243.1:c.3047-49G>A,\N,\N,18/26,Unknown significance,\N,intron_variant,5.608,0.000225313,EXAC_NFE_AF,TCOF1
685519,5:149769402:C>T,NM_001135243.1:c.3047-48C>T,\N,\N,18/26,Unknown significance,\N,intron_variant,4.671,0.0000964878,EXAC_AFR_AF,TCOF1
685520,5:149769403:G>A,NM_001135243.1:c.3047-47G>A,\N,\N,18/26,Unknown significance,\N,intron_variant,3.543,\N,\N,TCOF1
685521,5:149769404:A>T,NM_001135243.1:c.3047-46A>T,\N,\N,18/26,Unknown significance,\N,intron_variant,1.304,0.00019279,EXAC_AFR_AF,TCOF1
685522,5:149769414:T>C,NM_001135243.1:c.3047-36T>C,\N,\N,18/26,Unknown significance,\N,intron_variant,3.883,0.0000150168,EXAC_NFE_AF,TCOF1
685523,5:149769415:G>A,NM_001135243.1:c.3047-35G>A,\N,\N,18/26,Unknown significance,\N,intron_variant,1.172,0.000226963,EVS_AA_AF,TCOF1
685524,5:149769416:TGCCCTGATGTGCCCCCATCTC>T,NM_001135243.1:c.3047-31_3047-11del,\N,\N,18/26,Unknown significance,\N,intron_variant,7.447,\N,\N,TCOF1
685525,5:149769420:C>G,NM_001135243.1:c.3047-30C>G,\N,\N,18/26,Unknown significance,\N,intron_variant,8.422,0.000181708,EXAC_SAS_AF,TCOF1
685526,5:149769421:T>C,NM_001135243.1:c.3047-29T>C,\N,\N,18/26,Unknown significance,\N,intron_variant,8.396,0.00003003,EXAC_NFE_AF,TCOF1
685527,5:149769425:G>A,NM_001135243.1:c.3047-25G>A,\N,\N,18/26,Unknown significance,\N,intron_variant,4.569,0.000226963,EVS_AA_AF,TCOF1
685528,5:149769430:C>T,NM_001135243.1:c.3047-20C>T,\N,\N,18/26,Benign,\N,intron_variant,1.52,0.0174,1KG_AFR_AF,TCOF1
685529,5:149769436:T>C,NM_001135243.1:c.3047-14T>C,\N,\N,18/26,Unknown significance,\N,intron_variant,2.082,0.0000605694,EXAC_SAS_AF,TCOF1
685530,5:149769437:C>T,NM_001135243.1:c.3047-13C>T,\N,\N,18/26,Unknown significance,\N,intron_variant,0.788,0.000226963,EVS_AA_AF,TCOF1
685531,5:149769438:G>C,NM_001135243.1:c.3047-12G>C,\N,\N,18/26,Unknown significance,\N,intron_variant,0.013,0.0000150123,EXAC_NFE_AF,TCOF1
685532,5:149769438:G>T,NM_001135243.1:c.3047-12G>T,\N,\N,18/26,Unknown significance,\N,intron_variant,0.032,0.000226963,EVS_AA_AF,TCOF1
685533,5:149769441:C>T,NM_001135243.1:c.3047-9C>T,\N,\N,18/26,Unknown significance,\N,intron_variant,6.328,0.000181686,EXAC_SAS_AF,TCOF1
685534,5:149769447:C>T,NM_001135243.1:c.3047-3C>T,\N,\N,18/26,Unknown significance,\N,splice_region_variant&intron_variant,9.244,0.0000962649,EXAC_AFR_AF,TCOF1
685535,5:149769448:A>T,NM_001135243.1:c.3047-2A>T,\N,\N,18/26,Pathogenic,Treacher-Collins syndrome,splice_acceptor_variant,20.4,\N,\N,TCOF1
685536,5:149769449:G>A,NM_001135243.1:c.3047-1G>A,\N,\N,18/26,Pathogenic,Treacher-Collins syndrome,splice_acceptor_variant,22.8,\N,\N,TCOF1
685537,5:149769451:C>T,NM_001135243.1:c.3048C>T,NP_001128715.1:p.Gly1016=,19/27,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,1.462,0.0000150087,EXAC_NFE_AF,TCOF1
685538,5:149769454:CAG>C,NM_001135243.1:c.3053_3054del,NP_001128715.1:p.Arg1018AsnfsTer68,19/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,26.7,\N,\N,TCOF1
685539,5:149769456:G>T,NM_001135243.1:c.3053G>T,NP_001128715.1:p.Arg1018Ile,19/27,\N,Unknown significance,\N,missense_variant,23.6,0.00115607,EXAC_EAS_AF,TCOF1
685540,5:149769469:G>A,NM_001135243.1:c.3066G>A,NP_001128715.1:p.Val1022=,19/27,\N,Unknown significance,\N,synonymous_variant,6.388,0.000060562,EXAC_SAS_AF,TCOF1
685541,5:149769469:G>C,NM_001135243.1:c.3066G>C,NP_001128715.1:p.Val1022=,19/27,\N,Unknown significance,\N,synonymous_variant,2.861,0.000226963,EVS_AA_AF,TCOF1
685542,5:149769479:AC>A,NM_001135243.1:c.3077del,NP_001128715.1:p.Thr1026MetfsTer6,19/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,24.6,\N,\N,TCOF1
685543,5:149769480:C>T,NM_001135243.1:c.3077C>T,NP_001128715.1:p.Thr1026Ile,19/27,\N,Unknown significance,\N,missense_variant,23.5,0.0000150114,EXAC_NFE_AF,TCOF1
685544,5:149769484:C>T,NM_001135243.1:c.3081C>T,NP_001128715.1:p.Ala1027=,19/27,\N,Unknown significance,\N,synonymous_variant,11.59,0.000226963,EVS_AA_AF,TCOF1
685545,5:149769495:T>C,NM_001135243.1:c.3092T>C,NP_001128715.1:p.Ile1031Thr,19/27,\N,Likely benign,\N,missense_variant,0.003,0.000115607,EXAC_EAS_AF,TCOF1
685546,5:149769504:A>G,NM_001135243.1:c.3101A>G,NP_001128715.1:p.Lys1034Arg,19/27,\N,Likely benign,\N,missense_variant,0.001,0.000115687,EXAC_EAS_AF,TCOF1
685547,5:149769509:A>AG,NM_001135243.1:c.3107dup,NP_001128715.1:p.Ser1036ArgfsTer51,19/27,\N,Pathogenic,Treacher collins syndrome 1; TREACHER COLLINS SYNDROME 1,frameshift_variant,\N,\N,\N,TCOF1
685548,5:149769512:A>G,NM_001135243.1:c.3109A>G,NP_001128715.1:p.Met1037Val,19/27,\N,Likely benign,\N,missense_variant,0.001,\N,\N,TCOF1
685549,5:149769513:T>C,NM_001135243.1:c.3110T>C,NP_001128715.1:p.Met1037Thr,19/27,\N,Likely benign,\N,missense_variant,0.001,0.0000608495,EXAC_SAS_AF,TCOF1
685550,5:149769513:TG>T,NM_001135243.1:c.3112del,NP_001128715.1:p.Ala1038LeufsTer35,19/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,14.84,\N,\N,TCOF1
685551,5:149769515:G>C,NM_001135243.1:c.3112G>C,NP_001128715.1:p.Ala1038Pro,19/27,\N,Likely benign,\N,missense_variant,3.79,0.0000151579,EXAC_NFE_AF,TCOF1
685552,5:149769517:T>G,NM_001135243.1:c.3114T>G,NP_001128715.1:p.Ala1038=,19/27,\N,Unknown significance,\N,synonymous_variant,9.021,\N,\N,TCOF1
685553,5:149769517:T>TG,NM_001135243.1:c.3118dup,NP_001128715.1:p.Ala1040GlyfsTer47,19/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,23.5,\N,\N,TCOF1
685554,5:149769521:G>A,NM_001135243.1:c.3118G>A,NP_001128715.1:p.Ala1040Thr,19/27,\N,Likely benign,\N,missense_variant,12.2,0.0000873668,EXAC_AMR_AF,TCOF1
685555,5:149769524:A>C,NM_001135243.1:c.3121A>C,NP_001128715.1:p.Ser1041Arg,19/27,\N,Unknown significance,\N,missense_variant,23.4,0.0000305782,EXAC_NFE_AF,TCOF1
685556,5:149769526:C>T,NM_001135243.1:c.3123C>T,NP_001128715.1:p.Ser1041=,19/27,\N,Unknown significance,\N,synonymous_variant,10.96,0.000015298,EXAC_NFE_AF,TCOF1
685557,5:149769534:A>G,NM_001135243.1:c.3131A>G,NP_001128715.1:p.Lys1044Arg,19/27,\N,Unknown significance,\N,missense_variant,20.6,0.000232558,EVS_EA_AF,TCOF1
685558,5:149769545:C>A,NM_001135243.1:c.3142C>A,NP_001128715.1:p.Arg1048=,19/27,\N,Unknown significance,\N,synonymous_variant,15.86,0.0000161124,EXAC_NFE_AF,TCOF1
685559,5:149769545:C>T,NM_001135243.1:c.3142C>T,NP_001128715.1:p.Arg1048Trp,19/27,\N,Unknown significance,\N,missense_variant,25.7,0.000104932,EXAC_AFR_AF,TCOF1
685560,5:149769550:A>G,NM_001135243.1:c.3147A>G,NP_001128715.1:p.Ile1049Met,19/27,\N,Likely benign,\N,missense_variant,0.057,0.000287632,EXAC_AMR_AF,TCOF1
685561,5:149769559:C>T,NM_001135243.1:c.3156C>T,NP_001128715.1:p.Gly1052=,19/27,\N,Pathogenic,Treacher-Collins syndrome,synonymous_variant,12.69,\N,\N,TCOF1
685562,5:149769562:G>A,NM_001135243.1:c.3159G>A,NP_001128715.1:p.Lys1053=,19/27,\N,Unknown significance,\N,synonymous_variant,11.25,0.00014556,EXAC_EAS_AF,TCOF1
685563,5:149769566:C>T,NM_001135243.1:c.3163C>T,NP_001128715.1:p.Gln1055Ter,19/27,\N,Pathogenic,Treacher-Collins syndrome,stop_gained,36,\N,\N,TCOF1
685564,5:149769570:A>G,NM_001135243.1:c.3167A>G,NP_001128715.1:p.Glu1056Gly,19/27,\N,Likely benign,\N,missense_variant,27,\N,\N,TCOF1
685565,5:149769571:G>A,NM_001135243.1:c.3168G>A,NP_001128715.1:p.Glu1056=,19/27,\N,Unknown significance,\N,synonymous_variant,6.749,0.0045,1KG_AFR_AF,TCOF1
685566,5:149769573:G>A,NM_001135243.1:c.3170G>A,NP_001128715.1:p.Gly1057Glu,19/27,\N,Likely benign,\N,missense_variant,23.4,\N,\N,TCOF1
685567,5:149769573:G>C,NM_001135243.1:c.3170G>C,NP_001128715.1:p.Gly1057Ala,19/27,\N,Likely benign,\N,missense_variant,0.006,\N,\N,TCOF1
685568,5:149769574:A>C,NM_001135243.1:c.3171A>C,NP_001128715.1:p.Gly1057=,19/27,\N,Unknown significance,\N,synonymous_variant,0.286,\N,\N,TCOF1
685569,5:149769576:C>G,NM_001135243.1:c.3173C>G,NP_001128715.1:p.Pro1058Arg,19/27,\N,Unknown significance,\N,missense_variant,23.9,0.000226963,EVS_AA_AF,TCOF1
685570,5:149769580:C>T,NM_001135243.1:c.3177C>T,NP_001128715.1:p.Ala1059=,19/27,\N,Unknown significance,\N,synonymous_variant,11.29,0.000241313,EXAC_FIN_AF,TCOF1
685571,5:149769586:G>A,NM_001135243.1:c.3183G>A,NP_001128715.1:p.Gln1061=,19/27,\N,Pathogenic,Treacher-Collins syndrome,splice_region_variant&synonymous_variant,8.701,\N,\N,TCOF1
685572,5:149769586:G>T,NM_001135243.1:c.3183G>T,NP_001128715.1:p.Gln1061His,19/27,\N,Pathogenic,Treacher-Collins syndrome,missense_variant&splice_region_variant,25.7,\N,\N,TCOF1
685573,5:149769589:A>G,NM_001135243.1:c.3183+3A>G,\N,\N,19/26,Unknown significance,\N,splice_region_variant&intron_variant,11.67,0.0000233503,EXAC_NFE_AF,TCOF1
685574,5:149769590:C>T,NM_001135243.1:c.3183+4C>T,\N,\N,19/26,Unknown significance,\N,splice_region_variant&intron_variant,9.311,0.001,1KG_EUR_AF,TCOF1
685575,5:149769598:G>A,NM_001135243.1:c.3183+12G>A,\N,\N,19/26,Unknown significance,\N,intron_variant,2.586,0.0000266567,EXAC_NFE_AF,TCOF1
685576,5:149769607:G>A,NM_001135243.1:c.3183+21G>A,\N,\N,19/26,Unknown significance,\N,intron_variant,4.784,0.000227066,EVS_AA_AF,TCOF1
685577,5:149769613:G>A,NM_001135243.1:c.3183+27G>A,\N,\N,19/26,Unknown significance,\N,intron_variant,7.381,0.000302663,EXAC_AMR_AF,TCOF1
685578,5:149769633:C>T,NM_001135243.1:c.3183+47C>T,\N,\N,19/26,Unknown significance,\N,intron_variant,4.061,\N,\N,TCOF1
685579,5:149769635:T>C,NM_001135243.1:c.3183+49T>C,\N,\N,19/26,Unknown significance,\N,intron_variant,3.218,0.000323904,EXAC_SAS_AF,TCOF1
685580,5:149769637:C>T,NM_001135243.1:c.3183+51C>T,\N,\N,19/26,Unknown significance,\N,intron_variant,3.729,0.000117041,EVS_EA_AF,TCOF1
685581,5:149769652:A>G,NM_001135243.1:c.3183+66A>G,\N,\N,19/26,Unknown significance,\N,intron_variant,1.639,\N,\N,TCOF1
685582,5:149769654:A>G,NM_001135243.1:c.3183+68A>G,\N,\N,19/26,Benign,\N,intron_variant,1.054,0.0787,1KG_AFR_AF,TCOF1
685583,5:149769659:C>A,NM_001135243.1:c.3183+73C>A,\N,\N,19/26,Unknown significance,\N,intron_variant,3.577,\N,\N,TCOF1
685584,5:149769672:C>T,NM_001135243.1:c.3183+86C>T,\N,\N,19/26,Unknown significance,\N,intron_variant,3.174,\N,\N,TCOF1
685585,5:149769688:G>C,NM_001135243.1:c.3183+102G>C,\N,\N,19/26,Benign,\N,intron_variant,0.154,0.1263,1KG_AFR_AF,TCOF1
685586,5:149769691:C>T,NM_001135243.1:c.3183+105C>T,\N,\N,19/26,Unknown significance,\N,intron_variant,2.1,\N,\N,TCOF1
685587,5:149769705:C>T,NM_001135243.1:c.3183+119C>T,\N,\N,19/26,Unknown significance,\N,intron_variant,0.484,0.0015,1KG_AFR_AF,TCOF1
685588,5:149769734:C>T,NM_001135243.1:c.3183+148C>T,\N,\N,19/26,Unknown significance,\N,intron_variant,3.859,0.0008,1KG_AFR_AF,TCOF1
685589,5:149769743:A>G,NM_001135243.1:c.3183+157A>G,\N,\N,19/26,Unknown significance,\N,intron_variant,2.901,0.0023,1KG_AFR_AF,TCOF1
685590,5:149769779:G>A,NM_001135243.1:c.3183+193G>A,\N,\N,19/26,Unknown significance,\N,intron_variant,4.33,0.0023,1KG_AFR_AF,TCOF1
685591,5:149769833:T>C,NM_001135243.1:c.3183+247T>C,\N,\N,19/26,Unknown significance,\N,intron_variant,5.14,\N,\N,TCOF1
685592,5:149769850:G>A,NM_001135243.1:c.3183+264G>A,\N,\N,19/26,Unknown significance,\N,intron_variant,0.699,0.0008,1KG_AFR_AF,TCOF1
685593,5:149769852:A>C,NM_001135243.1:c.3183+266A>C,\N,\N,19/26,Unknown significance,\N,intron_variant,1.713,\N,\N,TCOF1
685594,5:149769855:G>A,NM_001135243.1:c.3183+269G>A,\N,\N,19/26,Unknown significance,\N,intron_variant,4.429,0.001,1KG_EAS_AF,TCOF1
685595,5:149769859:CTTT>C,NM_001135243.1:c.3183+275_3183+277del,\N,\N,19/26,Unknown significance,\N,intron_variant,\N,\N,\N,TCOF1
685596,5:149769903:G>T,NM_001135243.1:c.3183+317G>T,\N,\N,19/26,Unknown significance,\N,intron_variant,2.654,0.003,1KG_EAS_AF,TCOF1
685597,5:149769988:C>T,NM_001135243.1:c.3183+402C>T,\N,\N,19/26,Unknown significance,\N,intron_variant,5.02,\N,\N,TCOF1
685598,5:149770006:G>A,NM_001135243.1:c.3183+420G>A,\N,\N,19/26,Unknown significance,\N,intron_variant,3.247,0.001,1KG_EUR_AF,TCOF1
685599,5:149770016:G>T,NM_001135243.1:c.3183+430G>T,\N,\N,19/26,Unknown significance,\N,intron_variant,0.704,0.002,1KG_SAS_AF,TCOF1
685600,5:149770027:G>A,NM_001135243.1:c.3183+441G>A,\N,\N,19/26,Unknown significance,\N,intron_variant,0.454,0.002,1KG_EUR_AF,TCOF1
685601,5:149770045:A>G,NM_001135243.1:c.3183+459A>G,\N,\N,19/26,Unknown significance,\N,intron_variant,3.934,\N,\N,TCOF1
685602,5:149770058:C>T,NM_001135243.1:c.3183+472C>T,\N,\N,19/26,Benign,\N,intron_variant,3.263,0.122,1KG_EAS_AF,TCOF1
685603,5:149770104:G>A,NM_001135243.1:c.3183+518G>A,\N,\N,19/26,Unknown significance,\N,intron_variant,2.226,\N,\N,TCOF1
685604,5:149770110:C>T,NM_001135243.1:c.3183+524C>T,\N,\N,19/26,Unknown significance,\N,intron_variant,4.225,0.0008,1KG_AFR_AF,TCOF1
685605,5:149770132:A>G,NM_001135243.1:c.3183+546A>G,\N,\N,19/26,Unknown significance,\N,intron_variant,3.086,0.0008,1KG_AFR_AF,TCOF1
685606,5:149770247:G>A,NM_001135243.1:c.3183+661G>A,\N,\N,19/26,Unknown significance,\N,intron_variant,1.738,\N,\N,TCOF1
685607,5:149770312:G>C,NM_001135243.1:c.3183+726G>C,\N,\N,19/26,Unknown significance,\N,intron_variant,1.097,\N,\N,TCOF1
685608,5:149770330:CA>C,NM_001135243.1:c.3183+745del,\N,\N,19/26,Unknown significance,\N,intron_variant,\N,\N,\N,TCOF1
685609,5:149770338:G>A,NM_001135243.1:c.3183+752G>A,\N,\N,19/26,Unknown significance,\N,intron_variant,5.585,\N,\N,TCOF1
685610,5:149770351:A>G,NM_001135243.1:c.3184-756A>G,\N,\N,19/26,Unknown significance,\N,intron_variant,6.321,\N,\N,TCOF1
685611,5:149770406:A>G,NM_001135243.1:c.3184-701A>G,\N,\N,19/26,Unknown significance,\N,intron_variant,3.68,\N,\N,TCOF1
685612,5:149770412:T>G,NM_001135243.1:c.3184-695T>G,\N,\N,19/26,Unknown significance,\N,intron_variant,7.988,0.001,1KG_EUR_AF,TCOF1
685613,5:149770423:G>A,NM_001135243.1:c.3184-684G>A,\N,\N,19/26,Unknown significance,\N,intron_variant,6.904,0.0038,1KG_AFR_AF,TCOF1
685614,5:149770446:G>A,NM_001135243.1:c.3184-661G>A,\N,\N,19/26,Unknown significance,\N,intron_variant,4.492,\N,\N,TCOF1
685615,5:149770460:A>G,NM_001135243.1:c.3184-647A>G,\N,\N,19/26,Unknown significance,\N,intron_variant,2.316,0.001,1KG_EUR_AF,TCOF1
685616,5:149770479:G>C,NM_001135243.1:c.3184-628G>C,\N,\N,19/26,Unknown significance,\N,intron_variant,0.14,\N,\N,TCOF1
685617,5:149770482:T>C,NM_001135243.1:c.3184-625T>C,\N,\N,19/26,Unknown significance,\N,intron_variant,0.599,0.001,1KG_SAS_AF,TCOF1
685618,5:149770489:G>T,NM_001135243.1:c.3184-618G>T,\N,\N,19/26,Unknown significance,\N,intron_variant,6.063,0.001,1KG_EAS_AF,TCOF1
685619,5:149770496:G>A,NM_001135243.1:c.3184-611G>A,\N,\N,19/26,Unknown significance,\N,intron_variant,4.944,\N,\N,TCOF1
685620,5:149770519:A>G,NM_001135243.1:c.3184-588A>G,\N,\N,19/26,Unknown significance,\N,intron_variant,3.936,0.0008,1KG_AFR_AF,TCOF1
685621,5:149770594:G>C,NM_001135243.1:c.3184-513G>C,\N,\N,19/26,Benign,\N,intron_variant,8.572,0.0204,1KG_AFR_AF,TCOF1
685622,5:149770622:G>A,NM_001135243.1:c.3184-485G>A,\N,\N,19/26,Unknown significance,\N,intron_variant,8.36,0.001,1KG_EUR_AF,TCOF1
685623,5:149770626:C>T,NM_001135243.1:c.3184-481C>T,\N,\N,19/26,Benign,\N,intron_variant,5.593,0.0646,1KG_EUR_AF,TCOF1
685624,5:149770645:G>A,NM_001135243.1:c.3184-462G>A,\N,\N,19/26,Unknown significance,\N,intron_variant,0.955,0.0031,1KG_SAS_AF,TCOF1
685625,5:149770653:C>T,NM_001135243.1:c.3184-454C>T,\N,\N,19/26,Unknown significance,\N,intron_variant,2.059,\N,\N,TCOF1
685626,5:149770672:CTG>C,NM_001135243.1:c.3184-434_3184-433del,\N,\N,19/26,Unknown significance,\N,intron_variant,6.013,0.003,1KG_AFR_AF,TCOF1
685627,5:149770693:A>C,NM_001135243.1:c.3184-414A>C,\N,\N,19/26,Unknown significance,\N,intron_variant,0.778,\N,\N,TCOF1
685628,5:149770719:G>A,NM_001135243.1:c.3184-388G>A,\N,\N,19/26,Unknown significance,\N,intron_variant,6.555,0.001,1KG_EAS_AF,TCOF1
685629,5:149770726:C>T,NM_001135243.1:c.3184-381C>T,\N,\N,19/26,Unknown significance,\N,intron_variant,5.099,0.0014,1KG_AMR_AF,TCOF1
685630,5:149770727:G>A,NM_001135243.1:c.3184-380G>A,\N,\N,19/26,Unknown significance,\N,intron_variant,0.157,\N,\N,TCOF1
685631,5:149770741:G>A,NM_001135243.1:c.3184-366G>A,\N,\N,19/26,Unknown significance,\N,intron_variant,4.527,0.0045,1KG_AFR_AF,TCOF1
685632,5:149770750:G>A,NM_001135243.1:c.3184-357G>A,\N,\N,19/26,Unknown significance,\N,intron_variant,6.651,0.0014,1KG_AMR_AF,TCOF1
685633,5:149770778:A>G,NM_001135243.1:c.3184-329A>G,\N,\N,19/26,Unknown significance,\N,intron_variant,1.589,\N,\N,TCOF1
685634,5:149770779:T>A,NM_001135243.1:c.3184-328T>A,\N,\N,19/26,Unknown significance,\N,intron_variant,7.476,0.0008,1KG_AFR_AF,TCOF1
685635,5:149770782:C>G,NM_001135243.1:c.3184-325C>G,\N,\N,19/26,Unknown significance,\N,intron_variant,3.416,0.001,1KG_EUR_AF,TCOF1
685636,5:149770790:A>G,NM_001135243.1:c.3184-317A>G,\N,\N,19/26,Unknown significance,\N,intron_variant,6.347,0.001,1KG_EAS_AF,TCOF1
685637,5:149770797:TC>T,NM_001135243.1:c.3184-307del,\N,\N,19/26,Unknown significance,\N,intron_variant,\N,\N,\N,TCOF1
685638,5:149770829:A>G,NM_001135243.1:c.3184-278A>G,\N,\N,19/26,Benign,\N,intron_variant,1.247,0.0076,1KG_AFR_AF,TCOF1
685639,5:149770841:C>A,NM_001135243.1:c.3184-266C>A,\N,\N,19/26,Unknown significance,\N,intron_variant,6.762,\N,\N,TCOF1
685640,5:149770861:G>T,NM_001135243.1:c.3184-246G>T,\N,\N,19/26,Unknown significance,\N,intron_variant,0.433,\N,\N,TCOF1
685641,5:149770872:G>C,NM_001135243.1:c.3184-235G>C,\N,\N,19/26,Unknown significance,\N,intron_variant,0.445,0.0041,1KG_SAS_AF,TCOF1
685642,5:149770899:C>T,NM_001135243.1:c.3184-208C>T,\N,\N,19/26,Unknown significance,\N,intron_variant,9.556,\N,\N,TCOF1
685643,5:149770906:C>T,NM_001135243.1:c.3184-201C>T,\N,\N,19/26,Benign,\N,intron_variant,8.186,0.0204,1KG_AFR_AF,TCOF1
685644,5:149770914:G>A,NM_001135243.1:c.3184-193G>A,\N,\N,19/26,Unknown significance,\N,intron_variant,7.435,0.0008,1KG_AFR_AF,TCOF1
685645,5:149770939:C>T,NM_001135243.1:c.3184-168C>T,\N,\N,19/26,Unknown significance,\N,intron_variant,2.339,\N,\N,TCOF1
685646,5:149770941:A>G,NM_001135243.1:c.3184-166A>G,\N,\N,19/26,Unknown significance,\N,intron_variant,4.98,\N,\N,TCOF1
685647,5:149770949:C>T,NM_001135243.1:c.3184-158C>T,\N,\N,19/26,Unknown significance,\N,intron_variant,1.124,0.0038,1KG_AFR_AF,TCOF1
685648,5:149770950:G>A,NM_001135243.1:c.3184-157G>A,\N,\N,19/26,Unknown significance,\N,intron_variant,5.202,0.001,1KG_EAS_AF,TCOF1
685649,5:149770950:G>C,NM_001135243.1:c.3184-157G>C,\N,\N,19/26,Unknown significance,\N,intron_variant,1.742,\N,\N,TCOF1
685650,5:149770972:C>G,NM_001135243.1:c.3184-135C>G,\N,\N,19/26,Unknown significance,\N,intron_variant,9.166,\N,\N,TCOF1
685651,5:149771027:A>G,NM_001135243.1:c.3184-80A>G,\N,\N,19/26,Unknown significance,\N,intron_variant,4.875,\N,\N,TCOF1
685652,5:149771030:C>T,NM_001135243.1:c.3184-77C>T,\N,\N,19/26,Unknown significance,\N,intron_variant,0.608,\N,\N,TCOF1
685653,5:149771067:A>C,NM_001135243.1:c.3184-40A>C,\N,\N,19/26,Unknown significance,\N,intron_variant,1.597,0.0008,1KG_AFR_AF,TCOF1
685654,5:149771078:G>A,NM_001135243.1:c.3184-29G>A,\N,\N,19/26,Unknown significance,\N,intron_variant,4.753,\N,\N,TCOF1
685655,5:149771079:T>C,NM_001135243.1:c.3184-28T>C,\N,\N,19/26,Unknown significance,\N,intron_variant,3.004,0.0000150775,EXAC_NFE_AF,TCOF1
685656,5:149771088:T>C,NM_001135243.1:c.3184-19T>C,\N,\N,19/26,Unknown significance,\N,intron_variant,2.109,0.000489524,EXAC_AFR_AF,TCOF1
685657,5:149771094:T>C,NM_001135243.1:c.3184-13T>C,\N,\N,19/26,Unknown significance,\N,intron_variant,1.471,0.0000150648,EXAC_NFE_AF,TCOF1
685658,5:149771104:C>T,NM_001135243.1:c.3184-3C>T,\N,\N,19/26,Unknown significance,\N,splice_region_variant&intron_variant,10.57,0.0000150621,EXAC_NFE_AF,TCOF1
685659,5:149771112:AAAG>A,NM_001135243.1:c.3195_3197del,NP_001128715.1:p.Lys1065del,20/27,\N,Unknown significance,\N,inframe_deletion,10.48,\N,\N,TCOF1
685660,5:149771114:A>G,NM_001135243.1:c.3191A>G,NP_001128715.1:p.Lys1064Arg,20/27,\N,Unknown significance,\N,missense_variant,14.18,0.00136178,EVS_AA_AF,TCOF1
685661,5:149771120:A>G,NM_001135243.1:c.3197A>G,NP_001128715.1:p.Asn1066Ser,20/27,\N,Likely benign,\N,missense_variant,0.24,0.0000150553,EXAC_NFE_AF,TCOF1
685662,5:149771120:A>T,NM_001135243.1:c.3197A>T,NP_001128715.1:p.Asn1066Ile,20/27,\N,Unknown significance,\N,missense_variant,23.3,0.00015124,EXAC_FIN_AF,TCOF1
685663,5:149771122:C>A,NM_001135243.1:c.3199C>A,NP_001128715.1:p.Pro1067Thr,20/27,\N,Likely benign,\N,missense_variant,21.2,0.0000150539,EXAC_NFE_AF,TCOF1
685664,5:149771142:C>G,NM_001135243.1:c.3219C>G,NP_001128715.1:p.Thr1073=,20/27,\N,Unknown significance,\N,synonymous_variant,12.65,0.000182061,EXAC_SAS_AF,TCOF1
685665,5:149771142:C>T,NM_001135243.1:c.3219C>T,NP_001128715.1:p.Thr1073=,20/27,\N,Unknown significance,\N,synonymous_variant,13.96,0.000115875,EXAC_EAS_AF,TCOF1
685666,5:149771149:G>A,NM_001135243.1:c.3226G>A,NP_001128715.1:p.Ala1076Thr,20/27,\N,Likely benign,\N,missense_variant,11.37,0.000226963,EVS_AA_AF,TCOF1
685667,5:149771149:GC>G,NM_001135243.1:c.3229del,NP_001128715.1:p.Leu1077Ter,20/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,33,\N,\N,TCOF1
685668,5:149771150:C>T,NM_001135243.1:c.3227C>T,NP_001128715.1:p.Ala1076Val,20/27,\N,Unknown significance,\N,missense_variant,26.2,\N,\N,TCOF1
685669,5:149771159:T>C,NM_001135243.1:c.3236T>C,NP_001128715.1:p.Val1079Ala,20/27,\N,Unknown significance,\N,missense_variant,25,0.001,1KG_EAS_AF,TCOF1
685670,5:149771163:C>T,NM_001135243.1:c.3240C>T,NP_001128715.1:p.Leu1080=,20/27,\N,Unknown significance,\N,synonymous_variant,16.39,0.000121374,EXAC_SAS_AF,TCOF1
685671,5:149771164:G>A,NM_001135243.1:c.3241G>A,NP_001128715.1:p.Ala1081Thr,20/27,\N,Unknown significance,\N,missense_variant,23.2,0.00204267,EVS_AA_AF,TCOF1
685672,5:149771164:G>T,NM_001135243.1:c.3241G>T,NP_001128715.1:p.Ala1081Ser,20/27,\N,Likely benign,\N,missense_variant,24.6,0.0000150739,EXAC_NFE_AF,TCOF1
685673,5:149771168:A>G,NM_001135243.1:c.3245A>G,NP_001128715.1:p.Gln1082Arg,20/27,\N,Unknown significance,\N,missense_variant,25.8,0.0000452284,EXAC_NFE_AF,TCOF1
685674,5:149771177:G>A,NM_001135243.1:c.3254G>A,NP_001128715.1:p.Ser1085Asn,20/27,\N,Likely benign,\N,missense_variant,15.61,0.0000607165,EXAC_SAS_AF,TCOF1
685675,5:149771191:C>T,NM_001135243.1:c.3268C>T,NP_001128715.1:p.Pro1090Ser,20/27,\N,Unknown significance,\N,missense_variant,23.6,0.0000151704,EXAC_NFE_AF,TCOF1
685676,5:149771194:G>A,NM_001135243.1:c.3271G>A,NP_001128715.1:p.Val1091Ile,20/27,\N,Likely benign,\N,missense_variant,2.357,0.000087184,EXAC_AMR_AF,TCOF1
685677,5:149771205:C>G,NM_001135243.1:c.3282C>G,NP_001128715.1:p.Thr1094=,20/27,\N,Unknown significance,\N,synonymous_variant,10.19,0.000540735,EXAC_AMR_AF,TCOF1
685678,5:149771206:C>T,NM_001135243.1:c.3283C>T,NP_001128715.1:p.Gln1095Ter,20/27,\N,Unknown significance,\N,stop_gained,36,0.001,1KG_EAS_AF,TCOF1
685679,5:149771217:T>G,NM_001135243.1:c.3294T>G,NP_001128715.1:p.Ser1098Arg,20/27,\N,Likely benign,\N,missense_variant,8.566,0.0000168697,EXAC_NFE_AF,TCOF1
685680,5:149771221:G>A,NM_001135243.1:c.3297+1G>A,\N,\N,20/26,Unknown significance,\N,splice_donor_variant,23.2,0.0000865471,EXAC_NFE_AF,TCOF1
685681,5:149771227:T>C,NM_001135243.1:c.3297+7T>C,\N,\N,20/26,Unknown significance,\N,splice_region_variant&intron_variant,0.534,0.000108202,EXAC_AMR_AF,TCOF1
685682,5:149771237:AGG>A,NM_001135243.1:c.3297+20_3297+21del,\N,\N,20/26,Unknown significance,\N,intron_variant,1.928,\N,\N,TCOF1
685683,5:149771245:C>G,NM_001135243.1:c.3297+25C>G,\N,\N,20/26,Unknown significance,\N,intron_variant,7.168,0.0000192589,EXAC_NFE_AF,TCOF1
685684,5:149771250:C>A,NM_001135243.1:c.3297+30C>A,\N,\N,20/26,Unknown significance,\N,intron_variant,5.838,0.0000200096,EXAC_NFE_AF,TCOF1
685685,5:149771251:C>T,NM_001135243.1:c.3297+31C>T,\N,\N,20/26,Unknown significance,\N,intron_variant,2.914,0.00019305,EXAC_FIN_AF,TCOF1
685686,5:149771253:C>T,NM_001135243.1:c.3297+33C>T,\N,\N,20/26,Unknown significance,\N,intron_variant,3.462,0.001,1KG_EAS_AF,TCOF1
685687,5:149771254:G>A,NM_001135243.1:c.3297+34G>A,\N,\N,20/26,Unknown significance,\N,intron_variant,2.55,0.002,1KG_EUR_AF,TCOF1
685688,5:149771256:A>G,NM_001135243.1:c.3297+36A>G,\N,\N,20/26,Unknown significance,\N,intron_variant,2.718,0.0014245,EXAC_OTH_AF,TCOF1
685689,5:149771259:G>A,NM_001135243.1:c.3297+39G>A,\N,\N,20/26,Unknown significance,\N,intron_variant,2.59,0.000227169,EVS_AA_AF,TCOF1
685690,5:149771260:T>C,NM_001135243.1:c.3297+40T>C,\N,\N,20/26,Unknown significance,\N,intron_variant,0.662,0.0000748727,EXAC_SAS_AF,TCOF1
685691,5:149771274:G>A,NM_001135243.1:c.3297+54G>A,\N,\N,20/26,Unknown significance,\N,intron_variant,4.938,0.0008,1KG_AFR_AF,TCOF1
685692,5:149771279:C>T,NM_001135243.1:c.3297+59C>T,\N,\N,20/26,Unknown significance,\N,intron_variant,6.261,0.0038,1KG_AFR_AF,TCOF1
685693,5:149771286:C>T,NM_001135243.1:c.3297+66C>T,\N,\N,20/26,Benign,\N,intron_variant,4.335,0.2262,1KG_EAS_AF,TCOF1
685694,5:149771287:G>C,NM_001135243.1:c.3297+67G>C,\N,\N,20/26,Unknown significance,\N,intron_variant,0.454,\N,\N,TCOF1
685695,5:149771294:C>G,NM_001135243.1:c.3297+74C>G,\N,\N,20/26,Unknown significance,\N,intron_variant,6.051,0.0014,1KG_AMR_AF,TCOF1
685696,5:149771343:C>T,NM_001135243.1:c.3297+123C>T,\N,\N,20/26,Unknown significance,\N,intron_variant,5.784,\N,\N,TCOF1
685697,5:149771384:G>A,NM_001135243.1:c.3298-136G>A,\N,\N,20/26,Unknown significance,\N,intron_variant,1.356,\N,\N,TCOF1
685698,5:149771420:C>T,NM_001135243.1:c.3298-100C>T,\N,\N,20/26,Unknown significance,\N,intron_variant,1.565,\N,\N,TCOF1
685699,5:149771469:T>C,NM_001135243.1:c.3298-51T>C,\N,\N,20/26,Unknown significance,\N,intron_variant,2.774,0.001,1KG_EUR_AF,TCOF1
685700,5:149771494:C>A,NM_001135243.1:c.3298-26C>A,\N,\N,20/26,Unknown significance,\N,intron_variant,13.87,0.000106496,EXAC_AMR_AF,TCOF1
685701,5:149771501:TCTC>T,NM_001135243.1:c.3298-16_3298-14del,\N,\N,20/26,Unknown significance,\N,intron_variant,10.16,0.0000982898,EXAC_AMR_AF,TCOF1
685702,5:149771512:C>T,NM_001135243.1:c.3298-8C>T,\N,\N,20/26,Unknown significance,\N,splice_region_variant&intron_variant,8.094,0.0000472307,EXAC_NFE_AF,TCOF1
685703,5:149771513:G>A,NM_001135243.1:c.3298-7G>A,\N,\N,20/26,Unknown significance,\N,splice_region_variant&intron_variant,2.32,0.000728465,EXAC_AMR_AF,TCOF1
685704,5:149771520:G>A,NM_001135243.1:c.3298G>A,NP_001128715.1:p.Val1100Ile,21/27,\N,Likely benign,\N,missense_variant&splice_region_variant,6.062,0.0000153714,EXAC_NFE_AF,TCOF1
685705,5:149771533:TG>T,NM_001135243.1:c.3314del,NP_001128715.1:p.Gly1105GlufsTer103,21/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,23.7,\N,\N,TCOF1
685706,5:149771536:G>T,NM_001135243.1:c.3314G>T,NP_001128715.1:p.Gly1105Val,21/27,\N,Unknown significance,\N,missense_variant,23.2,0.000232126,EXAC_EAS_AF,TCOF1
685707,5:149771536:GA>G,NM_001135243.1:c.3316del,NP_001128715.1:p.Thr1106HisfsTer102,21/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,23.9,\N,\N,TCOF1
685708,5:149771538:ACACTCCC>A,NM_001135243.1:c.3317_3323del,NP_001128715.1:p.Thr1106MetfsTer100,21/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,34,\N,\N,TCOF1
685709,5:149771545:C>T,NM_001135243.1:c.3323C>T,NP_001128715.1:p.Pro1108Leu,21/27,\N,Unknown significance,\N,missense_variant,23,0.0000150748,EXAC_NFE_AF,TCOF1
685710,5:149771550:A>G,NM_001135243.1:c.3328A>G,NP_001128715.1:p.Thr1110Ala,21/27,\N,Likely benign,\N,missense_variant,0.324,0.000606575,EXAC_SAS_AF,TCOF1
685711,5:149771551:CA>C,NM_001135243.1:c.3331del,NP_001128715.1:p.Ser1111ValfsTer97,21/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,22.5,\N,\N,TCOF1
685712,5:149771557:C>T,NM_001135243.1:c.3335C>T,NP_001128715.1:p.Pro1112Leu,21/27,\N,Unknown significance,\N,missense_variant,23.4,0.000482812,EXAC_AFR_AF,TCOF1
685713,5:149771561:G>A,NM_001135243.1:c.3339G>A,NP_001128715.1:p.Gln1113=,21/27,\N,Unknown significance,\N,synonymous_variant,5.976,0.002,1KG_EUR_AF|1KG_SAS_AF,TCOF1
685714,5:149771563:G>A,NM_001135243.1:c.3341G>A,NP_001128715.1:p.Ser1114Asn,21/27,\N,Likely benign,\N,missense_variant,20.3,0.0000606134,EXAC_SAS_AF,TCOF1
685715,5:149771570:C>T,NM_001135243.1:c.3348C>T,NP_001128715.1:p.Ser1116=,21/27,\N,Unknown significance,\N,synonymous_variant,13.4,\N,\N,TCOF1
685716,5:149771571:G>A,NM_001135243.1:c.3349G>A,NP_001128715.1:p.Val1117Ile,21/27,\N,Likely benign,\N,missense_variant,5.227,0.00017325,EXAC_AMR_AF,TCOF1
685717,5:149771574:C>T,NM_001135243.1:c.3352C>T,NP_001128715.1:p.Gln1118Ter,21/27,\N,Pathogenic,Treacher-Collins syndrome,stop_gained,36,\N,\N,TCOF1
685718,5:149771576:G>A,NM_001135243.1:c.3354G>A,NP_001128715.1:p.Gln1118=,21/27,\N,Unknown significance,\N,synonymous_variant,3.584,0.000060584,EXAC_SAS_AF,TCOF1
685719,5:149771577:G>T,NM_001135243.1:c.3355G>T,NP_001128715.1:p.Ala1119Ser,21/27,\N,Likely benign,\N,missense_variant,0.73,0.0008,1KG_AFR_AF,TCOF1
685720,5:149771581:A>G,NM_001135243.1:c.3359A>G,NP_001128715.1:p.Lys1120Arg,21/27,\N,Likely benign,\N,missense_variant,0.001,0.0000605767,EXAC_SAS_AF,TCOF1
685721,5:149771585:G>C,NM_001135243.1:c.3363G>C,NP_001128715.1:p.Gly1121=,21/27,\N,Unknown significance,\N,synonymous_variant,2.952,0.0008,1KG_AFR_AF,TCOF1
685722,5:149771594:G>A,NM_001135243.1:c.3372G>A,NP_001128715.1:p.Lys1124=,21/27,\N,Unknown significance,\N,synonymous_variant,8.958,0.0000150033,EXAC_NFE_AF,TCOF1
685723,5:149771594:G>C,NM_001135243.1:c.3372G>C,NP_001128715.1:p.Lys1124Asn,21/27,\N,Likely benign,\N,missense_variant,11.6,0.0000964134,EXAC_AFR_AF,TCOF1
685724,5:149771595:C>T,NM_000356.3:c.3142C>T,NP_000347.2:p.Leu1048Phe,20/26,\N,Likely benign,\N,missense_variant,24.1,0.000060562,EXAC_SAS_AF,TCOF1
685725,5:149771597:C>T,NM_001135243.1:c.3375C>T,NP_001128715.1:p.Leu1125=,21/27,\N,Unknown significance,\N,synonymous_variant,10.35,0.000060562,EXAC_SAS_AF,TCOF1
685726,5:149771598:A>T,NM_001135243.1:c.3376A>T,NP_001128715.1:p.Arg1126Ter,21/27,\N,Unknown significance,\N,stop_gained,35,\N,\N,TCOF1
685727,5:149771620:T>G,NM_001135243.1:c.3398T>G,NP_001128715.1:p.Val1133Gly,21/27,\N,Likely benign,\N,missense_variant,0.169,\N,\N,TCOF1
685728,5:149771622:C>T,NM_001135243.1:c.3400C>T,NP_001128715.1:p.Gln1134Ter,21/27,\N,Pathogenic,Treacher-Collins syndrome,stop_gained,36,\N,\N,TCOF1
685729,5:149771624:G>A,NM_001135243.1:c.3402G>A,NP_001128715.1:p.Gln1134=,21/27,\N,Unknown significance,\N,synonymous_variant,7.183,0.0000149988,EXAC_NFE_AF,TCOF1
685730,5:149771640:C>T,NM_001135243.1:c.3418C>T,NP_001128715.1:p.Pro1140Ser,21/27,\N,Likely benign,\N,missense_variant,22.2,0.0000149975,EXAC_NFE_AF,TCOF1
685731,5:149771642:T>C,NM_001135243.1:c.3420T>C,NP_001128715.1:p.Pro1140=,21/27,\N,Unknown significance,\N,synonymous_variant,10.28,0.000231214,EXAC_EAS_AF,TCOF1
685732,5:149771645:G>A,NM_001135243.1:c.3423G>A,NP_001128715.1:p.Glu1141=,21/27,\N,Unknown significance,\N,synonymous_variant,15.78,0.000226963,EVS_AA_AF,TCOF1
685733,5:149771648:C>T,NM_001135243.1:c.3426C>T,NP_001128715.1:p.Ser1142=,21/27,\N,Benign,\N,synonymous_variant,18.38,0.00658193,EVS_AA_AF,TCOF1
685734,5:149771652:G>C,NM_001135243.1:c.3430G>C,NP_001128715.1:p.Asp1144His,21/27,\N,Likely benign,\N,missense_variant,24.4,0.000231214,EXAC_EAS_AF,TCOF1
685735,5:149771654:T>C,NM_001135243.1:c.3432T>C,NP_001128715.1:p.Asp1144=,21/27,\N,Unknown significance,\N,synonymous_variant,9.577,0.000116279,EVS_EA_AF,TCOF1
685736,5:149771660:T>G,NM_001135243.1:c.3438T>G,NP_001128715.1:p.Ser1146Arg,21/27,\N,Benign,\N,missense_variant,24,0.0167826,EXAC_FIN_AF,TCOF1
685737,5:149771663:G>A,NM_001135243.1:c.3441G>A,NP_001128715.1:p.Glu1147=,21/27,\N,Unknown significance,\N,synonymous_variant,14.49,0.000015002,EXAC_NFE_AF,TCOF1
685738,5:149771664:G>A,NM_001135243.1:c.3442G>A,NP_001128715.1:p.Asp1148Asn,21/27,\N,Pathogenic,Treacher-Collins Syndrome,missense_variant,29.5,0.000432152,EXAC_AMR_AF,TCOF1
685739,5:149771664:G>T,NM_001135243.1:c.3442G>T,NP_001128715.1:p.Asp1148Tyr,21/27,\N,Unknown significance,\N,missense_variant,24.3,\N,\N,TCOF1
685740,5:149771672:C>T,NM_001135243.1:c.3450C>T,NP_001128715.1:p.Ser1150=,21/27,\N,Unknown significance,\N,synonymous_variant,21,0.001,1KG_SAS_AF,TCOF1
685741,5:149771673:G>A,NM_001135243.1:c.3451G>A,NP_001128715.1:p.Asp1151Asn,21/27,\N,Likely benign,\N,missense_variant,7.392,0.0000864454,EXAC_AMR_AF,TCOF1
685742,5:149771674:ACAGTTCTT>A,NM_001135243.1:c.3456_3463del,NP_001128715.1:p.Ser1152ArgfsTer3,21/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,35,\N,\N,TCOF1
685743,5:149771692:A>G,NM_001135243.1:c.3470A>G,NP_001128715.1:p.Glu1157Gly,21/27,\N,Unknown significance,\N,missense_variant,24.2,0.001,1KG_EAS_AF,TCOF1
685744,5:149771712:C>T,NM_001135243.1:c.3490C>T,NP_001128715.1:p.Gln1164Ter,21/27,\N,Pathogenic,Treacher-Collins syndrome,stop_gained,35,\N,\N,TCOF1
685745,5:149771713:AG>A,NM_001135243.1:c.3496del,NP_001128715.1:p.Ala1166ProfsTer42,21/27,\N,Unknown significance,\N,frameshift_variant,\N,\N,\N,TCOF1
685746,5:149771715:G>C,NM_001135243.1:c.3493G>C,NP_001128715.1:p.Gly1165Arg,21/27,\N,Likely benign,\N,missense_variant,0.033,0.0029,1KG_AMR_AF,TCOF1
685747,5:149771722:A>C,NM_001135243.1:c.3500A>C,NP_001128715.1:p.Lys1167Thr,21/27,\N,Likely benign,\N,missense_variant,3.809,0.000231321,EXAC_EAS_AF,TCOF1
685748,5:149771723:G>A,NM_001135243.1:c.3501G>A,NP_001128715.1:p.Lys1167=,21/27,\N,Unknown significance,\N,synonymous_variant,7.091,\N,\N,TCOF1
685749,5:149771732:C>T,NM_001135243.1:c.3510C>T,NP_001128715.1:p.His1170=,21/27,\N,Benign,\N,synonymous_variant,6.466,0.0242,1KG_AFR_AF,TCOF1
685750,5:149771734:C>T,NM_001135243.1:c.3512C>T,NP_001128715.1:p.Thr1171Met,21/27,\N,Likely benign,\N,missense_variant,16.99,0.0001213,EXAC_SAS_AF,TCOF1
685751,5:149771735:G>C,NM_001135243.1:c.3513G>C,NP_001128715.1:p.Thr1171=,21/27,\N,Unknown significance,\N,synonymous_variant,6.043,0.0000152091,EXAC_NFE_AF,TCOF1
685752,5:149771740:G>A,NM_001135243.1:c.3517+1G>A,\N,\N,21/26,Unknown significance,\N,splice_donor_variant,23,0.0000989511,EXAC_AFR_AF,TCOF1
685753,5:149771746:G>T,NM_001135243.1:c.3517+7G>T,\N,\N,21/26,Unknown significance,\N,splice_region_variant&intron_variant,4.135,0.0000153257,EXAC_NFE_AF,TCOF1
685754,5:149771748:G>T,NM_001135243.1:c.3517+9G>T,\N,\N,21/26,Unknown significance,\N,intron_variant,1.637,\N,\N,TCOF1
685755,5:149771750:C>CA,NM_001135243.1:c.3517+12dup,\N,\N,21/26,Unknown significance,\N,intron_variant,\N,\N,\N,TCOF1
685756,5:149771750:CA>C,NM_001135243.1:c.3517+12del,\N,\N,21/26,Unknown significance,\N,intron_variant,1.081,0.000117647,EXAC_EAS_AF,TCOF1
685757,5:149771756:A>G,NM_001135243.1:c.3517+17A>G,\N,\N,21/26,Unknown significance,\N,intron_variant,3.063,0.0000615157,EXAC_SAS_AF,TCOF1
685758,5:149771763:A>G,NM_001135243.1:c.3517+24A>G,\N,\N,21/26,Unknown significance,\N,intron_variant,2.811,0.0008,1KG_AFR_AF,TCOF1
685759,5:149771769:G>A,NM_001135243.1:c.3517+30G>A,\N,\N,21/26,Unknown significance,\N,intron_variant,3.654,0.000121183,EXAC_EAS_AF,TCOF1
685760,5:149771782:G>T,NM_001135243.1:c.3517+43G>T,\N,\N,21/26,Unknown significance,\N,intron_variant,1.463,0.0000932314,EXAC_AMR_AF,TCOF1
685761,5:149771783:T>C,NM_001135243.1:c.3517+44T>C,\N,\N,21/26,Unknown significance,\N,intron_variant,4.346,0.0000641519,EXAC_SAS_AF,TCOF1
685762,5:149771786:T>C,NM_001135243.1:c.3517+47T>C,\N,\N,21/26,Unknown significance,\N,intron_variant,1.681,0.0000647333,EXAC_SAS_AF,TCOF1
685763,5:149771787:G>A,NM_001135243.1:c.3517+48G>A,\N,\N,21/26,Unknown significance,\N,intron_variant,1.995,0.0000654965,EXAC_SAS_AF,TCOF1
685764,5:149771789:G>A,NM_001135243.1:c.3517+50G>A,\N,\N,21/26,Unknown significance,\N,intron_variant,0.941,0.000131614,EXAC_SAS_AF,TCOF1
685765,5:149771789:G>T,NM_001135243.1:c.3517+50G>T,\N,\N,21/26,Unknown significance,\N,intron_variant,0.303,0.00105291,EXAC_EAS_AF,TCOF1
685766,5:149771795:T>C,NM_001135243.1:c.3517+56T>C,\N,\N,21/26,Unknown significance,\N,intron_variant,2.817,0.0015,1KG_AFR_AF,TCOF1
685767,5:149771800:G>T,NM_001135243.1:c.3517+61G>T,\N,\N,21/26,Unknown significance,\N,intron_variant,1.691,\N,\N,TCOF1
685768,5:149771816:C>T,NM_001135243.1:c.3517+77C>T,\N,\N,21/26,Unknown significance,\N,intron_variant,6.174,\N,\N,TCOF1
685769,5:149771822:T>G,NM_001135243.1:c.3517+83T>G,\N,\N,21/26,Unknown significance,\N,intron_variant,7.341,0.001,1KG_SAS_AF,TCOF1
685770,5:149771825:A>G,NM_001135243.1:c.3517+86A>G,\N,\N,21/26,Unknown significance,\N,intron_variant,1.541,0.0008,1KG_AFR_AF,TCOF1
685771,5:149771876:C>T,NM_001135243.1:c.3517+137C>T,\N,\N,21/26,Unknown significance,\N,intron_variant,8.42,0.0008,1KG_AFR_AF,TCOF1
685772,5:149771887:C>T,NM_001135243.1:c.3517+148C>T,\N,\N,21/26,Unknown significance,\N,intron_variant,2.843,\N,\N,TCOF1
685773,5:149771888:T>C,NM_001135243.1:c.3517+149T>C,\N,\N,21/26,Unknown significance,\N,intron_variant,3.829,\N,\N,TCOF1
685774,5:149771903:A>G,NM_001135243.1:c.3517+164A>G,\N,\N,21/26,Benign,\N,intron_variant,3.944,0.0106,1KG_AFR_AF,TCOF1
685775,5:149771990:C>A,NM_001135243.1:c.3517+251C>A,\N,\N,21/26,Unknown significance,\N,intron_variant,4.204,0.0008,1KG_AFR_AF,TCOF1
685776,5:149771990:C>G,NM_001135243.1:c.3517+251C>G,\N,\N,21/26,Unknown significance,\N,intron_variant,2.687,\N,\N,TCOF1
685777,5:149772062:T>C,NM_001135243.1:c.3518-209T>C,\N,\N,21/26,Unknown significance,\N,intron_variant,11.11,0.0038,1KG_AFR_AF,TCOF1
685778,5:149772065:G>T,NM_001135243.1:c.3518-206G>T,\N,\N,21/26,Unknown significance,\N,intron_variant,10.99,\N,\N,TCOF1
685779,5:149772078:G>A,NM_001135243.1:c.3518-193G>A,\N,\N,21/26,Unknown significance,\N,intron_variant,2.901,0.001,1KG_EAS_AF,TCOF1
685780,5:149772099:G>T,NM_001135243.1:c.3518-172G>T,\N,\N,21/26,Unknown significance,\N,intron_variant,1.189,0.0008,1KG_AFR_AF,TCOF1
685781,5:149772142:G>A,NM_001135243.1:c.3518-129G>A,\N,\N,21/26,Unknown significance,\N,intron_variant,3.192,0.001,1KG_SAS_AF,TCOF1
685782,5:149772149:C>T,NM_001135243.1:c.3518-122C>T,\N,\N,21/26,Unknown significance,\N,intron_variant,0.927,0.001,1KG_SAS_AF,TCOF1
685783,5:149772158:G>A,NM_001135243.1:c.3518-113G>A,\N,\N,21/26,Unknown significance,\N,intron_variant,5.913,0.001,1KG_SAS_AF,TCOF1
685784,5:149772160:A>T,NM_001135243.1:c.3518-111A>T,\N,\N,21/26,Unknown significance,\N,intron_variant,3.772,\N,\N,TCOF1
685785,5:149772176:TG>T,NM_001135243.1:c.3518-94del,\N,\N,21/26,Unknown significance,\N,intron_variant,\N,\N,\N,TCOF1
685786,5:149772208:T>C,NM_001135243.1:c.3518-63T>C,\N,\N,21/26,Unknown significance,\N,intron_variant,4.739,0.002,1KG_SAS_AF,TCOF1
685787,5:149772208:T>G,NM_001135243.1:c.3518-63T>G,\N,\N,21/26,Unknown significance,\N,intron_variant,6.009,0.002,1KG_SAS_AF,TCOF1
685788,5:149772217:C>T,NM_001135243.1:c.3518-54C>T,\N,\N,21/26,Unknown significance,\N,intron_variant,2.478,0.0015,1KG_AFR_AF,TCOF1
685789,5:149772218:G>A,NM_001135243.1:c.3518-53G>A,\N,\N,21/26,Unknown significance,\N,intron_variant,2.489,0.0014,1KG_AMR_AF,TCOF1
685790,5:149772222:G>A,NM_001135243.1:c.3518-49G>A,\N,\N,21/26,Unknown significance,\N,intron_variant,4.871,0.0000157055,EXAC_NFE_AF,TCOF1
685791,5:149772227:G>T,NM_001135243.1:c.3518-44G>T,\N,\N,21/26,Unknown significance,\N,intron_variant,3.066,0.000123198,EXAC_SAS_AF,TCOF1
685792,5:149772237:G>A,NM_001135243.1:c.3518-34G>A,\N,\N,21/26,Benign,\N,intron_variant,4.838,0.137313,EVS_AA_AF,TCOF1
685793,5:149772246:A>G,NM_001135243.1:c.3518-25A>G,\N,\N,21/26,Unknown significance,\N,intron_variant,8.505,0.000263174,EXAC_NFE_AF,TCOF1
685794,5:149772247:C>T,NM_001135243.1:c.3518-24C>T,\N,\N,21/26,Unknown significance,\N,intron_variant,9.857,0.00117096,EXAC_OTH_AF,TCOF1
685795,5:149772257:T>C,NM_001135243.1:c.3518-14T>C,\N,\N,21/26,Unknown significance,\N,intron_variant,4.461,0.000116279,EVS_EA_AF,TCOF1
685796,5:149772265:C>T,NM_001135243.1:c.3518-6C>T,\N,\N,21/26,Benign,\N,splice_region_variant&intron_variant,6.809,0.0051,1KG_SAS_AF,TCOF1
685797,5:149772271:G>A,NM_001135243.1:c.3518G>A,NP_001128715.1:p.Gly1173Asp,22/27,\N,Likely benign,\N,missense_variant&splice_region_variant,18.09,0.0000152957,EXAC_NFE_AF,TCOF1
685798,5:149772273:C>T,NM_001135243.1:c.3520C>T,NP_001128715.1:p.Pro1174Ser,22/27,\N,Likely benign,\N,missense_variant&splice_region_variant,13.19,\N,\N,TCOF1
685799,5:149772278:C>A,NM_001135243.1:c.3525C>A,NP_001128715.1:p.Thr1175=,22/27,\N,Unknown significance,\N,synonymous_variant,19.9,0.0008,1KG_AFR_AF,TCOF1
685800,5:149772280:C>G,NM_001135243.1:c.3527C>G,NP_001128715.1:p.Pro1176Arg,22/27,\N,Benign,\N,missense_variant,24.2,0.240435,EXAC_NFE_AF,TCOF1
685801,5:149772280:C>A,NM_001135243.1:c.3527C>A,NP_001128715.1:p.Pro1176His,22/27,\N,Unknown significance,\N,missense_variant,25.4,0.00011655,EXAC_EAS_AF,TCOF1
685802,5:149772280:C>T,NM_001135243.1:c.3527C>T,NP_001128715.1:p.Pro1176Leu,22/27,\N,Likely benign,\N,missense_variant,18.31,0.0000608273,EXAC_SAS_AF,TCOF1
685803,5:149772281:C>T,NM_001135243.1:c.3528C>T,NP_001128715.1:p.Pro1176=,22/27,\N,Likely benign,Treacher collins syndrome 1,synonymous_variant,14.77,0.00114679,EXAC_OTH_AF,TCOF1
685804,5:149772281:C>A,NM_001135243.1:c.3528C>A,NP_001128715.1:p.Pro1176=,22/27,\N,Unknown significance,\N,synonymous_variant,16.11,0.0000983091,EXAC_AFR_AF,TCOF1
685805,5:149772287:G>A,NM_001135243.1:c.3534G>A,NP_001128715.1:p.Arg1178=,22/27,\N,Unknown significance,\N,synonymous_variant,10.68,0.00114679,EXAC_OTH_AF,TCOF1
685806,5:149772288:A>T,NM_001135243.1:c.3535A>T,NP_001128715.1:p.Thr1179Ser,22/27,\N,Unknown significance,\N,missense_variant,14.01,0.00158874,EVS_AA_AF,TCOF1
685807,5:149772294:AC>A,NM_001135243.1:c.3544del,NP_001128715.1:p.Leu1182TrpfsTer26,22/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,34,\N,\N,TCOF1
685808,5:149772296:C>G,NM_001135243.1:c.3543C>G,NP_001128715.1:p.Thr1181=,22/27,\N,Unknown significance,\N,synonymous_variant,13.43,0.0000152045,EXAC_NFE_AF,TCOF1
685809,5:149772296:C>T,NM_001135243.1:c.3543C>T,NP_001128715.1:p.Thr1181=,22/27,\N,Unknown significance,\N,synonymous_variant,15.15,0.0008,1KG_AFR_AF,TCOF1
685810,5:149772311:C>T,NM_001135243.1:c.3558C>T,NP_001128715.1:p.Thr1186=,22/27,\N,Unknown significance,\N,synonymous_variant,16.29,0.000453926,EVS_AA_AF,TCOF1
685811,5:149772312:G>A,NM_001135243.1:c.3559G>A,NP_001128715.1:p.Ala1187Thr,22/27,\N,Likely benign,\N,missense_variant,3.85,0.000243576,EXAC_SAS_AF,TCOF1
685812,5:149772313:C>A,NM_001135243.1:c.3560C>A,NP_001128715.1:p.Ala1187Glu,22/27,\N,Likely benign,\N,missense_variant,24.1,0.0000609552,EXAC_NFE_AF,TCOF1
685813,5:149772317:AGAGTCCAGC>A,NM_001135243.1:c.3568_3576del,NP_001128715.1:p.Ser1190_Glu1192del,22/27,\N,Unknown significance,\N,inframe_deletion,22.1,\N,\N,TCOF1
685814,5:149772319:A>C,NM_001135243.1:c.3566A>C,NP_001128715.1:p.Glu1189Ala,22/27,\N,Unknown significance,\N,missense_variant,25.9,0.000106704,EXAC_NFE_AF,TCOF1
685815,5:149772320:G>A,NM_001135243.1:c.3567G>A,NP_001128715.1:p.Glu1189=,22/27,\N,Unknown significance,\N,synonymous_variant,9.964,\N,\N,TCOF1
685816,5:149772326:C>G,NM_001135243.1:c.3573C>G,NP_001128715.1:p.Ser1191Arg,22/27,\N,Unknown significance,\N,missense_variant,27.1,0.0000610799,EXAC_SAS_AF,TCOF1
685817,5:149772326:C>T,NM_001135243.1:c.3573C>T,NP_001128715.1:p.Ser1191=,22/27,\N,Unknown significance,\N,synonymous_variant,21.5,0.0000916198,EXAC_NFE_AF,TCOF1
685818,5:149772327:G>A,NM_001135243.1:c.3574G>A,NP_001128715.1:p.Glu1192Lys,22/27,\N,Unknown significance,\N,missense_variant,34,0.000183329,EXAC_SAS_AF,TCOF1
685819,5:149772335:TGTG>T,NM_001135243.1:c.3587_3589del,NP_001128715.1:p.Val1196del,22/27,\N,Unknown significance,\N,inframe_deletion,21.9,0.0000992654,EXAC_AFR_AF,TCOF1
685820,5:149772343:C>T,NM_001135243.1:c.3590C>T,NP_001128715.1:p.Ala1197Val,22/27,\N,Likely benign,\N,missense_variant,25.5,0.000117786,EXAC_EAS_AF,TCOF1
685821,5:149772344:G>A,NM_001135243.1:c.3591G>A,NP_001128715.1:p.Ala1197=,22/27,\N,Benign,\N,synonymous_variant,15.97,0.0098,1KG_AFR_AF,TCOF1
685822,5:149772352:AG>A,NM_001135243.1:c.3600+1del,\N,22/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant&splice_region_variant,35,\N,\N,TCOF1
685823,5:149772365:G>A,NM_001135243.1:c.3600+12G>A,\N,\N,22/26,Unknown significance,\N,intron_variant,15.21,0.0000162957,EXAC_NFE_AF,TCOF1
685824,5:149772365:G>T,NM_001135243.1:c.3600+12G>T,\N,\N,22/26,Unknown significance,\N,intron_variant,13.38,0.0000162957,EXAC_NFE_AF,TCOF1
685825,5:149772388:C>T,NM_001135243.1:c.3600+35C>T,\N,\N,22/26,Unknown significance,\N,intron_variant,3.476,0.0000173082,EXAC_NFE_AF,TCOF1
685826,5:149772395:G>T,NM_001135243.1:c.3600+42G>T,\N,\N,22/26,Unknown significance,\N,intron_variant,0.35,0.0000177974,EXAC_NFE_AF,TCOF1
685827,5:149772404:C>T,NM_001135243.1:c.3600+51C>T,\N,\N,22/26,Unknown significance,\N,intron_variant,1.108,0.00287356,EXAC_EAS_AF,TCOF1
685828,5:149772416:C>CT,NM_001135243.1:c.3600+64dup,\N,\N,22/26,Likely benign,Treacher collins syndrome 1,intron_variant,\N,\N,\N,TCOF1
685829,5:149772418:G>C,NM_001135243.1:c.3600+65G>C,\N,\N,22/26,Unknown significance,\N,intron_variant,0.649,0.0008,1KG_AFR_AF,TCOF1
685830,5:149772425:C>T,NM_001135243.1:c.3600+72C>T,\N,\N,22/26,Unknown significance,\N,intron_variant,2.158,0.001,1KG_EAS_AF,TCOF1
685831,5:149772429:C>G,NM_001135243.1:c.3600+76C>G,\N,\N,22/26,Unknown significance,\N,intron_variant,2.685,\N,\N,TCOF1
685832,5:149772468:G>A,NM_001135243.1:c.3600+115G>A,\N,\N,22/26,Unknown significance,\N,intron_variant,6.225,\N,\N,TCOF1
685833,5:149772480:G>A,NM_001135243.1:c.3600+127G>A,\N,\N,22/26,Unknown significance,\N,intron_variant,12.47,0.001,1KG_SAS_AF,TCOF1
685834,5:149772510:A>G,NM_001135243.1:c.3600+157A>G,\N,\N,22/26,Unknown significance,\N,intron_variant,4.732,0.0023,1KG_AFR_AF,TCOF1
685835,5:149772539:G>A,NM_001135243.1:c.3600+186G>A,\N,\N,22/26,Benign,\N,intron_variant,0.737,0.0069,1KG_EAS_AF,TCOF1
685836,5:149772575:G>T,NM_001135243.1:c.3600+222G>T,\N,\N,22/26,Unknown significance,\N,intron_variant,0.909,\N,\N,TCOF1
685837,5:149772580:T>G,NM_001135243.1:c.3600+227T>G,\N,\N,22/26,Benign,\N,intron_variant,6.476,0.0051,1KG_SAS_AF,TCOF1
685838,5:149772613:C>T,NM_001135243.1:c.3600+260C>T,\N,\N,22/26,Unknown significance,\N,intron_variant,3.815,\N,\N,TCOF1
685839,5:149772614:G>A,NM_001135243.1:c.3600+261G>A,\N,\N,22/26,Benign,\N,intron_variant,0.196,0.0061,1KG_AFR_AF,TCOF1
685840,5:149772653:T>C,NM_001135243.1:c.3601-282T>C,\N,\N,22/26,Unknown significance,\N,intron_variant,9.007,\N,\N,TCOF1
685841,5:149772674:A>G,NM_001135243.1:c.3601-261A>G,\N,\N,22/26,Unknown significance,\N,intron_variant,12.91,\N,\N,TCOF1
685842,5:149772680:T>C,NM_001135243.1:c.3601-255T>C,\N,\N,22/26,Unknown significance,\N,intron_variant,11.3,0.0014,1KG_AMR_AF,TCOF1
685843,5:149772717:G>A,NM_001135243.1:c.3601-218G>A,\N,\N,22/26,Unknown significance,\N,intron_variant,2.625,0.001,1KG_SAS_AF,TCOF1
685844,5:149772718:T>A,NM_001135243.1:c.3601-217T>A,\N,\N,22/26,Benign,\N,intron_variant,6.321,0.0076,1KG_AFR_AF,TCOF1
685845,5:149772731:A>G,NM_001135243.1:c.3601-204A>G,\N,\N,22/26,Unknown significance,\N,intron_variant,3.754,0.001,1KG_EUR_AF,TCOF1
685846,5:149772759:C>T,NM_001135243.1:c.3601-176C>T,\N,\N,22/26,Unknown significance,\N,intron_variant,5.911,0.001,1KG_EUR_AF,TCOF1
685847,5:149772763:C>T,NM_001135243.1:c.3601-172C>T,\N,\N,22/26,Benign,\N,intron_variant,4.824,0.0202,1KG_AMR_AF,TCOF1
685848,5:149772773:T>C,NM_001135243.1:c.3601-162T>C,\N,\N,22/26,Unknown significance,\N,intron_variant,4.868,\N,\N,TCOF1
685849,5:149772784:T>C,NM_001135243.1:c.3601-151T>C,\N,\N,22/26,Unknown significance,\N,intron_variant,4.137,\N,\N,TCOF1
685850,5:149772796:T>C,NM_001135243.1:c.3601-139T>C,\N,\N,22/26,Unknown significance,\N,intron_variant,2.554,\N,\N,TCOF1
685851,5:149772811:C>T,NM_001135243.1:c.3601-124C>T,\N,\N,22/26,Unknown significance,\N,intron_variant,5.425,0.002,1KG_EUR_AF,TCOF1
685852,5:149772891:T>G,NM_001135243.1:c.3601-44T>G,\N,\N,22/26,Unknown significance,\N,intron_variant,1.362,\N,\N,TCOF1
685853,5:149772897:G>A,NM_001135243.1:c.3601-38G>A,\N,\N,22/26,Unknown significance,\N,intron_variant,4.962,0.000226963,EVS_AA_AF,TCOF1
685854,5:149772897:G>T,NM_001135243.1:c.3601-38G>T,\N,\N,22/26,Unknown significance,\N,intron_variant,2.969,0.0000151382,EXAC_NFE_AF,TCOF1
685855,5:149772900:G>A,NM_001135243.1:c.3601-35G>A,\N,\N,22/26,Unknown significance,\N,intron_variant,2.584,0.000196618,EXAC_AFR_AF,TCOF1
685856,5:149772902:G>A,NM_001135243.1:c.3601-33G>A,\N,\N,22/26,Unknown significance,\N,intron_variant,6.246,\N,\N,TCOF1
685857,5:149772909:G>A,NM_001135243.1:c.3601-26G>A,\N,\N,22/26,Unknown significance,\N,intron_variant,4.599,0.000907853,EVS_AA_AF,TCOF1
685858,5:149772921:A>G,NM_001135243.1:c.3601-14A>G,\N,\N,22/26,Unknown significance,\N,intron_variant,10.94,0.00317749,EVS_AA_AF,TCOF1
685859,5:149772932:C>T,NM_001135243.1:c.3601-3C>T,\N,\N,22/26,Benign,\N,splice_region_variant&intron_variant,18.96,0.123922,EVS_AA_AF,TCOF1
685860,5:149772935:TCTCTC>T,NM_001135243.1:c.3607_3611del,NP_001128715.1:p.Leu1203ArgfsTer36,23/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant&splice_region_variant,35,\N,\N,TCOF1
685861,5:149772936:C>A,NM_001135243.1:c.3602C>A,NP_001128715.1:p.Ser1201Tyr,23/27,\N,Unknown significance,\N,missense_variant&splice_region_variant,32,\N,\N,TCOF1
685862,5:149772936:C>T,NM_001135243.1:c.3602C>T,NP_001128715.1:p.Ser1201Phe,23/27,\N,Unknown significance,\N,missense_variant&splice_region_variant,33,0.000116279,EVS_EA_AF,TCOF1
685863,5:149772945:C>T,NM_001135243.1:c.3611C>T,NP_001128715.1:p.Ser1204Leu,23/27,\N,Unknown significance,\N,missense_variant,26.8,0.0000149916,EXAC_NFE_AF,TCOF1
685864,5:149772945:C>G,NM_001135243.1:c.3611C>G,NP_001128715.1:p.Ser1204Ter,23/27,\N,Pathogenic,Treacher-Collins syndrome,stop_gained,46,\N,\N,TCOF1
685865,5:149772946:A>C,NM_001135243.1:c.3612A>C,NP_001128715.1:p.Ser1204=,23/27,\N,Pathogenic,Treacher-Collins syndrome,synonymous_variant,7,\N,\N,TCOF1
685866,5:149772947:G>A,NM_001135243.1:c.3613G>A,NP_001128715.1:p.Gly1205Ser,23/27,\N,Pathogenic,Treacher-Collins syndrome,missense_variant,33,\N,\N,TCOF1
685867,5:149772951:A>G,NM_001135243.1:c.3617A>G,NP_001128715.1:p.Tyr1206Cys,23/27,\N,Unknown significance,\N,missense_variant,27.4,0.00226963,EVS_AA_AF,TCOF1
685868,5:149772951:A>T,NM_001135243.1:c.3617A>T,NP_001128715.1:p.Tyr1206Phe,23/27,\N,Likely benign,\N,missense_variant,19.5,0.0000864006,EXAC_AMR_AF,TCOF1
685869,5:149772953:A>G,NM_001135243.1:c.3619A>G,NP_001128715.1:p.Met1207Val,23/27,\N,Likely benign,\N,missense_variant,4.84,0.0000605767,EXAC_SAS_AF,TCOF1
685870,5:149772954:T>A,NM_001135243.1:c.3620T>A,NP_001128715.1:p.Met1207Lys,23/27,\N,Unknown significance,\N,missense_variant,23.8,0.00331126,EXAC_OTH_AF,TCOF1
685871,5:149772956:A>G,NM_001135244.1:c.3511A>G,NP_001128716.1:p.Thr1171Ala,22/26,\N,Likely benign,\N,missense_variant,17.1,0.000115554,EXAC_EAS_AF,TCOF1
685872,5:149772959:C>T,NM_001135244.1:c.3514C>T,NP_001128716.1:p.Pro1172Ser,22/26,\N,Benign,\N,missense_variant,24.4,0.0061,1KG_SAS_AF,TCOF1
685873,5:149772960:C>T,NM_001135243.1:c.3626C>T,NP_001128715.1:p.Pro1209Leu,23/27,\N,Likely benign,\N,missense_variant,23.5,\N,\N,TCOF1
685874,5:149772975:C>T,NM_001135243.1:c.3641C>T,NP_001128715.1:p.Ala1214Val,23/27,\N,Unknown significance,\N,missense_variant,32,0.0000149849,EXAC_NFE_AF,TCOF1
685875,5:149772986:G>T,NM_001135243.1:c.3652G>T,NP_001128715.1:p.Ala1218Ser,23/27,\N,Unknown significance,\N,missense_variant,26,0.0000960984,EXAC_AFR_AF,TCOF1
685876,5:149772989:T>C,NM_001135243.1:c.3655T>C,NP_001128715.1:p.Ser1219Pro,23/27,\N,Unknown significance,\N,missense_variant,26.2,0.0000299697,EXAC_NFE_AF,TCOF1
685877,5:149772990:C>A,NM_001135243.1:c.3656C>A,NP_001128715.1:p.Ser1219Ter,23/27,\N,Unknown significance,\N,stop_gained,41,\N,\N,TCOF1
685878,5:149772994:A>G,NM_001135243.1:c.3660A>G,NP_001128715.1:p.Lys1220=,23/27,\N,Unknown significance,\N,synonymous_variant,2.719,0.000116279,EVS_EA_AF,TCOF1
685879,5:149773009:A>G,NM_001135243.1:c.3675A>G,NP_001128715.1:p.Leu1225=,23/27,\N,Unknown significance,\N,synonymous_variant,0.985,0.0008,1KG_AFR_AF,TCOF1
685880,5:149773018:C>G,NM_001135243.1:c.3684C>G,NP_001128715.1:p.Ser1228Arg,23/27,\N,Likely benign,\N,missense_variant,16.08,0.001,1KG_SAS_AF,TCOF1
685881,5:149773019:C>A,NM_001135243.1:c.3685C>A,NP_001128715.1:p.Pro1229Thr,23/27,\N,Unknown significance,\N,missense_variant,17.31,0.0000149862,EXAC_NFE_AF,TCOF1
685882,5:149773020:C>T,NM_000356.3:c.3455C>T,NP_000347.2:p.Pro1152Leu,22/26,\N,Likely benign,\N,missense_variant,14.34,0.0000149862,EXAC_NFE_AF,TCOF1
685883,5:149773024:A>C,NM_001135243.1:c.3690A>C,NP_001128715.1:p.Ser1230=,23/27,\N,Unknown significance,\N,synonymous_variant,0.072,0.0000149862,EXAC_NFE_AF,TCOF1
685884,5:149773029:CCTCTA>C,NM_001135243.1:c.3700_3704del,NP_001128715.1:p.Thr1234GlyfsTer5,23/27,\N,Likely pathogenic,Treacher-Collins syndrome,frameshift_variant,34,\N,\N,TCOF1
685885,5:149773038:T>C,NM_001135243.1:c.3704T>C,NP_001128715.1:p.Leu1235Pro,23/27,\N,Likely benign,\N,missense_variant,0.029,0.0000149858,EXAC_NFE_AF,TCOF1
685886,5:149773042:C>T,NM_001135243.1:c.3708C>T,NP_001128715.1:p.Ala1236=,23/27,\N,Unknown significance,\N,synonymous_variant,11.81,0.00011558,EXAC_EAS_AF,TCOF1
685887,5:149773043:G>A,NM_001135243.1:c.3709G>A,NP_001128715.1:p.Ala1237Thr,23/27,\N,Benign,\N,missense_variant,0.042,0.0106,1KG_AFR_AF,TCOF1
685888,5:149773043:G>T,NM_001135243.1:c.3709G>T,NP_001128715.1:p.Ala1237Ser,23/27,\N,Likely benign,\N,missense_variant,5.793,0.0000605694,EXAC_SAS_AF,TCOF1
685889,5:149773044:C>T,NM_001135243.1:c.3710C>T,NP_001128715.1:p.Ala1237Val,23/27,\N,Likely benign,\N,missense_variant,16.88,0.0000605694,EXAC_SAS_AF,TCOF1
685890,5:149773067:C>T,NM_001135243.1:c.3733C>T,NP_001128715.1:p.Gln1245Ter,23/27,\N,Unknown significance,\N,stop_gained,36,\N,\N,TCOF1
685891,5:149773069:G>A,NM_001135243.1:c.3735G>A,NP_001128715.1:p.Gln1245=,23/27,\N,Unknown significance,\N,synonymous_variant,5.543,0.0000149894,EXAC_NFE_AF,TCOF1
685892,5:149773074:C>G,NM_001135243.1:c.3740C>G,NP_001128715.1:p.Ala1247Gly,23/27,\N,Likely benign,\N,missense_variant,22,0.0000299823,EXAC_NFE_AF,TCOF1
685893,5:149773079:CCC>A,NM_001135243.1:c.3745_3747delinsA,NP_001128715.1:p.Pro1249ThrfsTer10,23/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,\N,\N,\N,TCOF1
685894,5:149773086:A>G,NM_001135243.1:c.3752A>G,NP_001128715.1:p.Gln1251Arg,23/27,\N,Likely benign,\N,missense_variant,5.804,0.000226963,EVS_AA_AF,TCOF1
685895,5:149773092:C>G,NM_001135243.1:c.3758C>G,NP_001128715.1:p.Ala1253Gly,23/27,\N,Likely pathogenic,Treacher-Collins syndrome,missense_variant,16.56,\N,\N,TCOF1
685896,5:149773093:A>G,NM_001135243.1:c.3759A>G,NP_001128715.1:p.Ala1253=,23/27,\N,Unknown significance,\N,synonymous_variant,5.224,0.0000149984,EXAC_NFE_AF,TCOF1
685897,5:149773095:G>A,NM_001135243.1:c.3761G>A,NP_001128715.1:p.Gly1254Asp,23/27,\N,Likely benign,\N,missense_variant,0.551,0.000115687,EXAC_EAS_AF,TCOF1
685898,5:149773096:C>T,NM_001135243.1:c.3762C>T,NP_001128715.1:p.Gly1254=,23/27,\N,Unknown significance,\N,synonymous_variant,10.29,0.0000300021,EXAC_NFE_AF,TCOF1
685899,5:149773098:T>C,NM_001135243.1:c.3764T>C,NP_001128715.1:p.Met1255Thr,23/27,\N,Likely benign,\N,missense_variant,0.001,0.0000300057,EXAC_NFE_AF,TCOF1
685900,5:149773102:G>A,NM_001135243.1:c.3768G>A,NP_001128715.1:p.Leu1256=,23/27,\N,Unknown significance,\N,synonymous_variant,6.223,0.000015006,EXAC_NFE_AF,TCOF1
685901,5:149773104:C>T,NM_001135243.1:c.3770C>T,NP_001128715.1:p.Ser1257Phe,23/27,\N,Likely benign,\N,missense_variant,17.76,\N,\N,TCOF1
685902,5:149773111:A>G,NM_001135243.1:c.3777A>G,NP_001128715.1:p.Lys1259=,23/27,\N,Unknown significance,\N,synonymous_variant,1.628,0.0000300354,EXAC_NFE_AF,TCOF1
685903,5:149773116:G>A,NM_001135243.1:c.3781+1G>A,\N,\N,23/26,Pathogenic,Treacher-Collins syndrome,splice_donor_variant,23.7,\N,\N,TCOF1
685904,5:149773116:G>GT,NM_001135243.1:c.3781+2dup,\N,\N,23/26,Pathogenic,Treacher-Collins syndrome,splice_donor_variant,23.2,\N,\N,TCOF1
685905,5:149773123:A>G,NM_001135243.1:c.3781+8A>G,\N,\N,23/26,Benign,\N,splice_region_variant&intron_variant,0.535,0.0143,1KG_SAS_AF,TCOF1
685906,5:149773135:A>C,NM_001135243.1:c.3781+20A>C,\N,\N,23/26,Unknown significance,\N,intron_variant,1.278,0.0000606722,EXAC_SAS_AF,TCOF1
685907,5:149773135:A>G,NM_001135243.1:c.3781+20A>G,\N,\N,23/26,Unknown significance,\N,intron_variant,3.26,0.001,1KG_EAS_AF,TCOF1
685908,5:149773136:G>A,NM_001135243.1:c.3781+21G>A,\N,\N,23/26,Unknown significance,\N,intron_variant,1.603,0.001,1KG_EAS_AF,TCOF1
685909,5:149773137:G>T,NM_001135243.1:c.3781+22G>T,\N,\N,23/26,Unknown significance,\N,intron_variant,1.866,0.0000869868,EXAC_AMR_AF,TCOF1
685910,5:149773138:G>T,NM_001135243.1:c.3781+23G>T,\N,\N,23/26,Unknown significance,\N,intron_variant,0.168,0.00015625,EXAC_FIN_AF,TCOF1
685911,5:149773141:A>G,NM_001135243.1:c.3781+26A>G,\N,\N,23/26,Unknown significance,\N,intron_variant,2.615,0.0000606943,EXAC_SAS_AF,TCOF1
685912,5:149773144:G>A,NM_001135243.1:c.3781+29G>A,\N,\N,23/26,Unknown significance,\N,intron_variant,3.925,0.0004879,EXAC_AFR_AF,TCOF1
685913,5:149773147:G>A,NM_001135243.1:c.3781+32G>A,\N,\N,23/26,Unknown significance,\N,intron_variant,2.052,0.0000302709,EXAC_NFE_AF,TCOF1
685914,5:149773148:GAC>G,NM_001135243.1:c.3781+37_3781+38del,\N,\N,23/26,Unknown significance,\N,intron_variant,2.541,0.0000871536,EXAC_AMR_AF,TCOF1
685915,5:149773150:C>T,NM_001135243.1:c.3781+35C>T,\N,\N,23/26,Unknown significance,\N,intron_variant,4.277,0.0000151345,EXAC_NFE_AF,TCOF1
685916,5:149773156:G>T,NM_001135243.1:c.3781+41G>T,\N,\N,23/26,Unknown significance,\N,intron_variant,2.066,0.000158028,EXAC_FIN_AF,TCOF1
685917,5:149773159:A>G,NM_001135243.1:c.3781+44A>G,\N,\N,23/26,Unknown significance,\N,intron_variant,4.216,\N,\N,TCOF1
685918,5:149773160:C>G,NM_001135243.1:c.3781+45C>G,\N,\N,23/26,Unknown significance,\N,intron_variant,3.013,0.0008,1KG_AFR_AF,TCOF1
685919,5:149773173:C>T,NM_001135243.1:c.3781+58C>T,\N,\N,23/26,Unknown significance,\N,intron_variant,6.044,0.001,1KG_EAS_AF,TCOF1
685920,5:149773195:A>C,NM_001135243.1:c.3781+80A>C,\N,\N,23/26,Unknown significance,\N,intron_variant,3.458,0.001,1KG_SAS_AF,TCOF1
685921,5:149773213:T>C,NM_001135243.1:c.3781+98T>C,\N,\N,23/26,Unknown significance,\N,intron_variant,6.312,0.001,1KG_SAS_AF,TCOF1
685922,5:149773214:C>T,NM_001135243.1:c.3781+99C>T,\N,\N,23/26,Unknown significance,\N,intron_variant,6.702,0.001,1KG_SAS_AF,TCOF1
685923,5:149773217:G>T,NM_001135243.1:c.3781+102G>T,\N,\N,23/26,Benign,\N,intron_variant,2.015,0.0061,1KG_AFR_AF,TCOF1
685924,5:149773268:T>A,NM_001135243.1:c.3781+153T>A,\N,\N,23/26,Unknown significance,\N,intron_variant,5.308,0.001,1KG_EUR_AF,TCOF1
685925,5:149773301:G>C,NM_001135243.1:c.3781+186G>C,\N,\N,23/26,Unknown significance,\N,intron_variant,0.605,\N,\N,TCOF1
685926,5:149773313:A>G,NM_001135243.1:c.3781+198A>G,\N,\N,23/26,Unknown significance,\N,intron_variant,2.395,0.003,1KG_AFR_AF,TCOF1
685927,5:149773318:C>A,NM_001135243.1:c.3781+203C>A,\N,\N,23/26,Unknown significance,\N,intron_variant,2.357,\N,\N,TCOF1
685928,5:149773334:T>C,NM_001135243.1:c.3781+219T>C,\N,\N,23/26,Unknown significance,\N,intron_variant,1.893,0.0041,1KG_SAS_AF,TCOF1
685929,5:149773376:A>G,NM_001135243.1:c.3781+261A>G,\N,\N,23/26,Unknown significance,\N,intron_variant,6.156,0.001,1KG_EAS_AF,TCOF1
685930,5:149773419:A>G,NM_001135243.1:c.3781+304A>G,\N,\N,23/26,Unknown significance,\N,intron_variant,0.574,\N,\N,TCOF1
685931,5:149773431:C>T,NM_001135243.1:c.3781+316C>T,\N,\N,23/26,Unknown significance,\N,intron_variant,1.132,\N,\N,TCOF1
685932,5:149773432:G>A,NM_001135243.1:c.3781+317G>A,\N,\N,23/26,Unknown significance,\N,intron_variant,3.082,0.001,1KG_EUR_AF,TCOF1
685933,5:149773446:C>T,NM_001135243.1:c.3781+331C>T,\N,\N,23/26,Unknown significance,\N,intron_variant,0.812,0.0008,1KG_AFR_AF,TCOF1
685934,5:149773454:G>T,NM_001135243.1:c.3781+339G>T,\N,\N,23/26,Unknown significance,\N,intron_variant,0.259,\N,\N,TCOF1
685935,5:149773480:A>G,NM_001135243.1:c.3781+365A>G,\N,\N,23/26,Unknown significance,\N,intron_variant,3.554,\N,\N,TCOF1
685936,5:149773516:G>C,NM_001135243.1:c.3781+401G>C,\N,\N,23/26,Unknown significance,\N,intron_variant,1.617,\N,\N,TCOF1
685937,5:149773542:C>T,NM_001135243.1:c.3781+427C>T,\N,\N,23/26,Unknown significance,\N,intron_variant,3.359,0.002,1KG_SAS_AF,TCOF1
685938,5:149773599:C>T,NM_001135243.1:c.3781+484C>T,\N,\N,23/26,Unknown significance,\N,intron_variant,0.795,\N,\N,TCOF1
685939,5:149773600:G>A,NM_001135243.1:c.3781+485G>A,\N,\N,23/26,Unknown significance,\N,intron_variant,2.474,\N,\N,TCOF1
685940,5:149773600:G>C,NM_001135243.1:c.3781+485G>C,\N,\N,23/26,Unknown significance,\N,intron_variant,0.296,0.0029,1KG_AMR_AF,TCOF1
685941,5:149773605:G>A,NM_001135243.1:c.3781+490G>A,\N,\N,23/26,Unknown significance,\N,intron_variant,4.892,0.001,1KG_EAS_AF,TCOF1
685942,5:149773606:G>A,NM_001135243.1:c.3781+491G>A,\N,\N,23/26,Unknown significance,\N,intron_variant,6.219,0.0008,1KG_AFR_AF,TCOF1
685943,5:149773613:G>A,NM_001135243.1:c.3781+498G>A,\N,\N,23/26,Benign,\N,intron_variant,3.929,0.005,1KG_EUR_AF,TCOF1
685944,5:149773619:A>G,NM_001135243.1:c.3781+504A>G,\N,\N,23/26,Unknown significance,\N,intron_variant,3.871,0.0041,1KG_SAS_AF,TCOF1
685945,5:149773711:G>A,NM_001135243.1:c.3781+596G>A,\N,\N,23/26,Unknown significance,\N,intron_variant,1.208,0.002,1KG_EAS_AF,TCOF1
685946,5:149773749:C>T,NM_001135243.1:c.3781+634C>T,\N,\N,23/26,Unknown significance,\N,intron_variant,6.652,0.0038,1KG_AFR_AF,TCOF1
685947,5:149773756:C>G,NM_001135243.1:c.3781+641C>G,\N,\N,23/26,Unknown significance,\N,intron_variant,2.215,\N,\N,TCOF1
685948,5:149773756:C>T,NM_001135243.1:c.3781+641C>T,\N,\N,23/26,Unknown significance,\N,intron_variant,4.621,0.0008,1KG_AFR_AF,TCOF1
685949,5:149773787:C>T,NM_001135243.1:c.3781+672C>T,\N,\N,23/26,Unknown significance,\N,intron_variant,7.318,0.0008,1KG_AFR_AF,TCOF1
685950,5:149773798:T>A,NM_001135243.1:c.3781+683T>A,\N,\N,23/26,Benign,\N,intron_variant,4.574,0.2322,1KG_AFR_AF,TCOF1
685951,5:149773810:G>C,NM_001135243.1:c.3781+695G>C,\N,\N,23/26,Unknown significance,\N,intron_variant,1.069,\N,\N,TCOF1
685952,5:149773823:A>G,NM_001135243.1:c.3781+708A>G,\N,\N,23/26,Unknown significance,\N,intron_variant,2.07,\N,\N,TCOF1
685953,5:149773857:C>T,NM_001135243.1:c.3781+742C>T,\N,\N,23/26,Unknown significance,\N,intron_variant,8.719,0.003,1KG_AFR_AF,TCOF1
685954,5:149773878:A>C,NM_001135243.1:c.3781+763A>C,\N,\N,23/26,Unknown significance,\N,intron_variant,1.781,\N,\N,TCOF1
685955,5:149773904:C>G,NM_001135243.1:c.3781+789C>G,\N,\N,23/26,Unknown significance,\N,intron_variant,6.014,0.001,1KG_EAS_AF,TCOF1
685956,5:149773904:C>T,NM_001135243.1:c.3781+789C>T,\N,\N,23/26,Unknown significance,\N,intron_variant,7.34,\N,\N,TCOF1
685957,5:149773908:T>C,NM_001135243.1:c.3781+793T>C,\N,\N,23/26,Unknown significance,\N,intron_variant,2.149,0.0043,1KG_AMR_AF,TCOF1
685958,5:149773928:C>T,NM_001135243.1:c.3781+813C>T,\N,\N,23/26,Unknown significance,\N,intron_variant,13.62,0.001,1KG_EAS_AF,TCOF1
685959,5:149773933:C>T,NM_001135243.1:c.3781+818C>T,\N,\N,23/26,Unknown significance,\N,intron_variant,12.87,0.001,1KG_EUR_AF,TCOF1
685960,5:149773949:T>C,NM_001135243.1:c.3781+834T>C,\N,\N,23/26,Unknown significance,\N,intron_variant,7.851,0.003,1KG_AFR_AF,TCOF1
685961,5:149773978:G>A,NM_001135243.1:c.3781+863G>A,\N,\N,23/26,Unknown significance,\N,intron_variant,5.383,\N,\N,TCOF1
685962,5:149773994:A>G,NM_001135243.1:c.3781+879A>G,\N,\N,23/26,Unknown significance,\N,intron_variant,6.234,0.001,1KG_EAS_AF,TCOF1
685963,5:149774027:T>C,NM_001135243.1:c.3781+912T>C,\N,\N,23/26,Unknown significance,\N,intron_variant,1.927,\N,\N,TCOF1
685964,5:149774050:T>C,NM_001135243.1:c.3781+935T>C,\N,\N,23/26,Unknown significance,\N,intron_variant,0.423,0.001,1KG_EAS_AF,TCOF1
685965,5:149774065:C>G,NM_001135243.1:c.3781+950C>G,\N,\N,23/26,Unknown significance,\N,intron_variant,1.824,0.001,1KG_EUR_AF,TCOF1
685966,5:149774070:G>A,NM_001135243.1:c.3781+955G>A,\N,\N,23/26,Benign,\N,intron_variant,4.66,0.0219,1KG_AFR_AF,TCOF1
685967,5:149774155:G>A,NM_001135243.1:c.3781+1040G>A,\N,\N,23/26,Unknown significance,\N,intron_variant,7.193,0.001,1KG_EUR_AF,TCOF1
685968,5:149774161:G>A,NM_001135243.1:c.3781+1046G>A,\N,\N,23/26,Unknown significance,\N,intron_variant,0.33,0.0008,1KG_AFR_AF,TCOF1
685969,5:149774165:T>A,NM_001135243.1:c.3781+1050T>A,\N,\N,23/26,Unknown significance,\N,intron_variant,6.335,\N,\N,TCOF1
685970,5:149774207:C>G,NM_001135243.1:c.3781+1092C>G,\N,\N,23/26,Unknown significance,\N,intron_variant,0.594,0.001,1KG_EUR_AF,TCOF1
685971,5:149774251:G>A,NM_001135243.1:c.3781+1136G>A,\N,\N,23/26,Unknown significance,\N,intron_variant,0.102,\N,\N,TCOF1
685972,5:149774264:G>C,NM_001135243.1:c.3781+1149G>C,\N,\N,23/26,Unknown significance,\N,intron_variant,0.4,0.0014,1KG_AMR_AF,TCOF1
685973,5:149774294:A>G,NM_001135243.1:c.3781+1179A>G,\N,\N,23/26,Benign,\N,intron_variant,6.194,0.0477,1KG_AFR_AF,TCOF1
685974,5:149774324:A>G,NM_001135243.1:c.3781+1209A>G,\N,\N,23/26,Unknown significance,\N,intron_variant,6.074,0.0038,1KG_AFR_AF,TCOF1
685975,5:149774339:G>A,NM_001135243.1:c.3781+1224G>A,\N,\N,23/26,Benign,\N,intron_variant,3.103,0.0616,1KG_EUR_AF,TCOF1
685976,5:149774349:A>G,NM_001135243.1:c.3781+1234A>G,\N,\N,23/26,Unknown significance,\N,intron_variant,2.942,0.0008,1KG_AFR_AF,TCOF1
685977,5:149774352:C>T,NM_001135243.1:c.3781+1237C>T,\N,\N,23/26,Unknown significance,\N,intron_variant,0.111,0.0038,1KG_AFR_AF,TCOF1
685978,5:149774353:G>A,NM_001135243.1:c.3781+1238G>A,\N,\N,23/26,Unknown significance,\N,intron_variant,0.078,0.002,1KG_SAS_AF,TCOF1
685979,5:149774388:G>C,NM_001135243.1:c.3781+1273G>C,\N,\N,23/26,Unknown significance,\N,intron_variant,0.739,0.002,1KG_EAS_AF,TCOF1
685980,5:149774428:C>T,NM_001135243.1:c.3781+1313C>T,\N,\N,23/26,Unknown significance,\N,intron_variant,0.66,0.0008,1KG_AFR_AF,TCOF1
685981,5:149774479:CA>C,NM_001135243.1:c.3782-1342del,\N,\N,23/26,Unknown significance,\N,intron_variant,\N,\N,\N,TCOF1
685982,5:149774509:C>G,NM_001135243.1:c.3782-1336C>G,\N,\N,23/26,Benign,\N,intron_variant,1.37,0.0184,1KG_SAS_AF,TCOF1
685983,5:149774513:A>G,NM_001135243.1:c.3782-1332A>G,\N,\N,23/26,Unknown significance,\N,intron_variant,2.995,0.0045,1KG_AFR_AF,TCOF1
685984,5:149774518:C>T,NM_001135243.1:c.3782-1327C>T,\N,\N,23/26,Unknown significance,\N,intron_variant,0.162,0.0014,1KG_AMR_AF,TCOF1
685985,5:149774522:G>C,NM_001135243.1:c.3782-1323G>C,\N,\N,23/26,Benign,\N,intron_variant,1.714,0.0061,1KG_AFR_AF,TCOF1
685986,5:149774544:G>A,NM_001135243.1:c.3782-1301G>A,\N,\N,23/26,Benign,\N,intron_variant,0.139,0.0169,1KG_EAS_AF,TCOF1
685987,5:149774563:A>T,NM_001135243.1:c.3782-1282A>T,\N,\N,23/26,Benign,\N,intron_variant,7.313,0.0099,1KG_EAS_AF,TCOF1
685988,5:149774602:C>T,NM_001135243.1:c.3782-1243C>T,\N,\N,23/26,Unknown significance,\N,intron_variant,3.532,0.001,1KG_SAS_AF,TCOF1
685989,5:149774630:G>A,NM_001135243.1:c.3782-1215G>A,\N,\N,23/26,Unknown significance,\N,intron_variant,0.635,\N,\N,TCOF1
685990,5:149774630:G>C,NM_001135243.1:c.3782-1215G>C,\N,\N,23/26,Unknown significance,\N,intron_variant,0.128,\N,\N,TCOF1
685991,5:149774635:G>A,NM_001135243.1:c.3782-1210G>A,\N,\N,23/26,Unknown significance,\N,intron_variant,1.995,0.0014,1KG_AMR_AF,TCOF1
685992,5:149774670:A>G,NM_001135243.1:c.3782-1175A>G,\N,\N,23/26,Unknown significance,\N,intron_variant,6.278,0.0023,1KG_AFR_AF,TCOF1
685993,5:149774670:A>T,NM_001135243.1:c.3782-1175A>T,\N,\N,23/26,Benign,\N,intron_variant,6.339,0.0166,1KG_AFR_AF,TCOF1
685994,5:149774713:G>A,NM_001135243.1:c.3782-1132G>A,\N,\N,23/26,Unknown significance,\N,intron_variant,5.256,0.0015,1KG_AFR_AF,TCOF1
685995,5:149774727:T>C,NM_001135243.1:c.3782-1118T>C,\N,\N,23/26,Unknown significance,\N,intron_variant,1.196,0.0029,1KG_AMR_AF,TCOF1
685996,5:149774775:G>A,NM_001135243.1:c.3782-1070G>A,\N,\N,23/26,Unknown significance,\N,intron_variant,9.162,0.0045,1KG_AFR_AF,TCOF1
685997,5:149774802:G>A,NM_001135243.1:c.3782-1043G>A,\N,\N,23/26,Unknown significance,\N,intron_variant,1.589,0.001,1KG_EAS_AF,TCOF1
685998,5:149774828:G>A,NM_001135243.1:c.3782-1017G>A,\N,\N,23/26,Benign,\N,intron_variant,3.778,0.006,1KG_EUR_AF,TCOF1
685999,5:149774829:C>G,NM_001135243.1:c.3782-1016C>G,\N,\N,23/26,Unknown significance,\N,intron_variant,3.53,\N,\N,TCOF1
686000,5:149774843:A>C,NM_001135243.1:c.3782-1002A>C,\N,\N,23/26,Unknown significance,\N,intron_variant,1.283,\N,\N,TCOF1
686001,5:149774845:C>T,NM_001135243.1:c.3782-1000C>T,\N,\N,23/26,Unknown significance,\N,intron_variant,2.119,0.0014,1KG_AMR_AF,TCOF1
686002,5:149774861:C>T,NM_001135243.1:c.3782-984C>T,\N,\N,23/26,Unknown significance,\N,intron_variant,3.759,\N,\N,TCOF1
686003,5:149774865:C>T,NM_001135243.1:c.3782-980C>T,\N,\N,23/26,Unknown significance,\N,intron_variant,3.342,0.0008,1KG_AFR_AF,TCOF1
686004,5:149774871:A>G,NM_001135243.1:c.3782-974A>G,\N,\N,23/26,Unknown significance,\N,intron_variant,7.606,\N,\N,TCOF1
686005,5:149774898:G>C,NM_001135243.1:c.3782-947G>C,\N,\N,23/26,Unknown significance,\N,intron_variant,0.09,\N,\N,TCOF1
686006,5:149774997:G>A,NM_001135243.1:c.3782-848G>A,\N,\N,23/26,Unknown significance,\N,intron_variant,8.812,\N,\N,TCOF1
686007,5:149775011:C>T,NM_001135243.1:c.3782-834C>T,\N,\N,23/26,Benign,\N,intron_variant,15.54,0.0053,1KG_AFR_AF,TCOF1
686008,5:149775012:G>A,NM_001135243.1:c.3782-833G>A,\N,\N,23/26,Unknown significance,\N,intron_variant,13.95,0.0008,1KG_AFR_AF,TCOF1
686009,5:149775044:A>G,NM_001135243.1:c.3782-801A>G,\N,\N,23/26,Benign,\N,intron_variant,9.763,0.0317,1KG_EAS_AF,TCOF1
686010,5:149775048:T>C,NM_001135243.1:c.3782-797T>C,\N,\N,23/26,Unknown significance,\N,intron_variant,12.32,\N,\N,TCOF1
686011,5:149775061:C>T,NM_001135243.1:c.3782-784C>T,\N,\N,23/26,Unknown significance,\N,intron_variant,20.6,0.001,1KG_EAS_AF,TCOF1
686012,5:149775100:G>GT,NM_001135243.1:c.3782-732dup,\N,\N,23/26,Unknown significance,\N,intron_variant,18.27,\N,\N,TCOF1
686013,5:149775100:GTT>G,NM_001135243.1:c.3782-733_3782-732del,\N,\N,23/26,Unknown significance,\N,intron_variant,17.13,\N,\N,TCOF1
686014,5:149775113:T>A,NM_001135243.1:c.3782-732T>A,\N,\N,23/26,Benign,\N,intron_variant,20.9,0.0089,1KG_EUR_AF,TCOF1
686015,5:149775116:A>G,NM_001135243.1:c.3782-729A>G,\N,\N,23/26,Unknown significance,\N,intron_variant,21.1,0.002,1KG_EUR_AF,TCOF1
686016,5:149775156:G>A,NM_001135243.1:c.3782-689G>A,\N,\N,23/26,Unknown significance,\N,intron_variant,20.3,\N,\N,TCOF1
686017,5:149775176:G>A,NM_001135243.1:c.3782-669G>A,\N,\N,23/26,Unknown significance,\N,intron_variant,19.42,0.0008,1KG_AFR_AF,TCOF1
686018,5:149775192:C>CT,NM_001135243.1:c.3782-652dup,\N,\N,23/26,Benign,\N,intron_variant,13.15,0.0089,1KG_EUR_AF,TCOF1
686019,5:149775222:C>G,NM_001135243.1:c.3782-623C>G,\N,\N,23/26,Unknown significance,\N,intron_variant,11.64,0.0008,1KG_AFR_AF,TCOF1
686020,5:149775229:G>A,NM_001135243.1:c.3782-616G>A,\N,\N,23/26,Unknown significance,\N,intron_variant,4.516,\N,\N,TCOF1
686021,5:149775266:T>G,NM_001135243.1:c.3782-579T>G,\N,\N,23/26,Unknown significance,\N,intron_variant,5.278,0.0014,1KG_AMR_AF,TCOF1
686022,5:149775282:G>T,NM_001135243.1:c.3782-563G>T,\N,\N,23/26,Unknown significance,\N,intron_variant,1.649,0.003,1KG_AFR_AF,TCOF1
686023,5:149775287:GC>G,NM_001135243.1:c.3782-556del,\N,\N,23/26,Unknown significance,\N,intron_variant,4.895,0.004,1KG_EUR_AF,TCOF1
686024,5:149775309:T>C,NM_001135243.1:c.3782-536T>C,\N,\N,23/26,Unknown significance,\N,intron_variant,2.687,0.001,1KG_EUR_AF,TCOF1
686025,5:149775332:T>G,NM_001135243.1:c.3782-513T>G,\N,\N,23/26,Unknown significance,\N,intron_variant,5.815,\N,\N,TCOF1
686026,5:149775347:A>G,NM_001135243.1:c.3782-498A>G,\N,\N,23/26,Unknown significance,\N,intron_variant,1.609,0.002,1KG_EAS_AF,TCOF1
686027,5:149775389:G>A,NM_001135243.1:c.3782-456G>A,\N,\N,23/26,Benign,\N,intron_variant,0.533,0.005,1KG_EAS_AF,TCOF1
686028,5:149775411:C>T,NM_001135243.1:c.3782-434C>T,\N,\N,23/26,Unknown significance,\N,intron_variant,4.219,0.002,1KG_EUR_AF,TCOF1
686029,5:149775434:C>T,NM_001135243.1:c.3782-411C>T,\N,\N,23/26,Benign,\N,intron_variant,6.708,0.0239,1KG_EUR_AF,TCOF1
686030,5:149775448:A>AG,NM_001135243.1:c.3782-397_3782-396insG,\N,\N,23/26,Benign,\N,intron_variant,0.842,0.122,1KG_EAS_AF,TCOF1
686031,5:149775535:C>A,NM_001135243.1:c.3782-310C>A,\N,\N,23/26,Unknown significance,\N,intron_variant,3.445,0.001,1KG_EUR_AF,TCOF1
686032,5:149775578:T>G,NM_001135243.1:c.3782-267T>G,\N,\N,23/26,Unknown significance,\N,intron_variant,5.85,\N,\N,TCOF1
686033,5:149775599:G>T,NM_001135243.1:c.3782-246G>T,\N,\N,23/26,Unknown significance,\N,intron_variant,1.974,\N,\N,TCOF1
686034,5:149775636:G>C,NM_001135243.1:c.3782-209G>C,\N,\N,23/26,Unknown significance,\N,intron_variant,8.02,\N,\N,TCOF1
686035,5:149775669:A>G,NM_001135243.1:c.3782-176A>G,\N,\N,23/26,Unknown significance,\N,intron_variant,2.366,\N,\N,TCOF1
686036,5:149775696:G>T,NM_001135243.1:c.3782-149G>T,\N,\N,23/26,Unknown significance,\N,intron_variant,6.882,0.001,1KG_SAS_AF,TCOF1
686037,5:149775708:C>T,NM_001135243.1:c.3782-137C>T,\N,\N,23/26,Unknown significance,\N,intron_variant,8.334,0.0008,1KG_AFR_AF,TCOF1
686038,5:149775709:G>A,NM_001135243.1:c.3782-136G>A,\N,\N,23/26,Benign,\N,intron_variant,5.361,0.0058,1KG_AMR_AF,TCOF1
686039,5:149775749:G>C,NM_001135243.1:c.3782-96G>C,\N,\N,23/26,Unknown significance,\N,intron_variant,0.927,\N,\N,TCOF1
686040,5:149775763:C>T,NM_001135243.1:c.3782-82C>T,\N,\N,23/26,Unknown significance,\N,intron_variant,4.105,0.001,1KG_EAS_AF,TCOF1
686041,5:149775768:C>T,NM_001135243.1:c.3782-77C>T,\N,\N,23/26,Unknown significance,\N,intron_variant,5.345,0.001,1KG_EAS_AF,TCOF1
686042,5:149775775:C>T,NM_001135243.1:c.3782-70C>T,\N,\N,23/26,Unknown significance,\N,intron_variant,1.839,0.0008,1KG_AFR_AF,TCOF1
686043,5:149775791:A>G,NM_001135243.1:c.3782-54A>G,\N,\N,23/26,Unknown significance,\N,intron_variant,1.469,0.001,1KG_EAS_AF,TCOF1
686044,5:149775805:A>G,NM_001135243.1:c.3782-40A>G,\N,\N,23/26,Unknown significance,\N,intron_variant,6.634,0.000681199,EVS_AA_AF,TCOF1
686045,5:149775806:A>C,NM_001135243.1:c.3782-39A>C,\N,\N,23/26,Unknown significance,\N,intron_variant,5.14,0.0000151048,EXAC_NFE_AF,TCOF1
686046,5:149775806:A>G,NM_001135243.1:c.3782-39A>G,\N,\N,23/26,Unknown significance,\N,intron_variant,7.087,0.0008,1KG_AFR_AF,TCOF1
686047,5:149775811:C>G,NM_001135243.1:c.3782-34C>G,\N,\N,23/26,Unknown significance,\N,intron_variant,6.034,0.000101709,EXAC_AFR_AF,TCOF1
686048,5:149775814:A>G,NM_001135243.1:c.3782-31A>G,\N,\N,23/26,Unknown significance,\N,intron_variant,6.855,0.00111607,EXAC_OTH_AF,TCOF1
686049,5:149775815:G>A,NM_001135243.1:c.3782-30G>A,\N,\N,23/26,Unknown significance,\N,intron_variant,6.466,0.0000151007,EXAC_NFE_AF,TCOF1
686050,5:149775818:C>T,NM_001135243.1:c.3782-27C>T,\N,\N,23/26,Unknown significance,\N,intron_variant,5.786,0.001,1KG_EUR_AF,TCOF1
686051,5:149775819:T>A,NM_001135243.1:c.3782-26T>A,\N,\N,23/26,Unknown significance,\N,intron_variant,6.288,\N,\N,TCOF1
686052,5:149775819:T>C,NM_001135243.1:c.3782-26T>C,\N,\N,23/26,Unknown significance,\N,intron_variant,3.146,\N,\N,TCOF1
686053,5:149775822:G>A,NM_001135243.1:c.3782-23G>A,\N,\N,23/26,Unknown significance,\N,intron_variant,3.665,0.000116279,EVS_EA_AF,TCOF1
686054,5:149775829:C>T,NM_001135243.1:c.3782-16C>T,\N,\N,23/26,Unknown significance,\N,intron_variant,0.992,0.000101605,EXAC_AFR_AF,TCOF1
686055,5:149775833:C>G,NM_001135243.1:c.3782-12C>G,\N,\N,23/26,Unknown significance,\N,intron_variant,4.264,0.0000150984,EXAC_NFE_AF,TCOF1
686056,5:149775835:C>G,NM_001135243.1:c.3782-10C>G,\N,\N,23/26,Unknown significance,\N,intron_variant,3.723,0.000060584,EXAC_SAS_AF,TCOF1
686057,5:149775845:G>T,NM_001135243.1:c.3782G>T,NP_001128715.1:p.Gly1261Val,24/27,\N,Unknown significance,\N,missense_variant&splice_region_variant,24.4,0.0008,1KG_AFR_AF,TCOF1
686058,5:149775849:A>G,NM_001135243.1:c.3786A>G,NP_001128715.1:p.Gly1262=,24/27,\N,Unknown significance,\N,synonymous_variant,1.818,0.0000605914,EXAC_SAS_AF,TCOF1
686059,5:149775855:G>C,NM_001135243.1:c.3792G>C,NP_001128715.1:p.Glu1264Asp,24/27,\N,Likely benign,\N,missense_variant,23,0.001,1KG_EAS_AF,TCOF1
686060,5:149775859:G>A,NM_001135243.1:c.3796G>A,NP_001128715.1:p.Ala1266Thr,24/27,\N,Likely benign,\N,missense_variant,0.023,0.0000605914,EXAC_SAS_AF,TCOF1
686061,5:149775865:G>A,NM_001135243.1:c.3802G>A,NP_001128715.1:p.Gly1268Ser,24/27,\N,Likely benign,\N,missense_variant,16.71,0.0008,1KG_AFR_AF,TCOF1
686062,5:149775867:C>G,NM_001135243.1:c.3804C>G,NP_001128715.1:p.Gly1268=,24/27,\N,Unknown significance,\N,synonymous_variant,6.715,0.000347062,EXAC_EAS_AF,TCOF1
686063,5:149775883:TC>T,NM_001135243.1:c.3823del,NP_001128715.1:p.Arg1275GlyfsTer32,24/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,35,\N,\N,TCOF1
686064,5:149775886:C>T,NM_001135243.1:c.3823C>T,NP_001128715.1:p.Arg1275Trp,24/27,\N,Unknown significance,\N,missense_variant,29,0.000302957,EXAC_SAS_AF,TCOF1
686065,5:149775887:G>A,NM_001135243.1:c.3824G>A,NP_001128715.1:p.Arg1275Gln,24/27,\N,Likely benign,\N,missense_variant,13.47,0.000453583,EXAC_FIN_AF,TCOF1
686066,5:149775894:C>T,NM_001135243.1:c.3831C>T,NP_001128715.1:p.Pro1277=,24/27,\N,Unknown significance,\N,synonymous_variant,11.82,0.000115687,EXAC_EAS_AF,TCOF1
686067,5:149775899:AAG>A,NM_001135243.1:c.3837_3838del,NP_001128715.1:p.Ala1281TrpfsTer27,24/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,26.3,\N,\N,TCOF1
686068,5:149775900:A>G,NM_001135243.1:c.3837A>G,NP_001128715.1:p.Lys1279=,24/27,\N,Unknown significance,\N,synonymous_variant,0.508,\N,\N,TCOF1
686069,5:149775901:G>A,NM_001135243.1:c.3838G>A,NP_001128715.1:p.Gly1280Arg,24/27,\N,Unknown significance,\N,missense_variant,23,\N,\N,TCOF1
686070,5:149775906:T>A,NM_001135243.1:c.3843T>A,NP_001128715.1:p.Ala1281=,24/27,\N,Unknown significance,\N,synonymous_variant,8.169,0.000116279,EVS_EA_AF,TCOF1
686071,5:149775911:A>AC,NM_001135243.1:c.3853dup,NP_001128715.1:p.Gln1285ProfsTer24,24/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,26.5,\N,\N,TCOF1
686072,5:149775911:AC>A,NM_001135243.1:c.3853del,NP_001128715.1:p.Gln1285LysfsTer22,24/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,27,\N,\N,TCOF1
686073,5:149775914:C>T,NM_001135243.1:c.3851C>T,NP_001128715.1:p.Pro1284Leu,24/27,\N,Unknown significance,\N,missense_variant,22.3,\N,\N,TCOF1
686074,5:149775917:A>G,NM_001135243.1:c.3854A>G,NP_001128715.1:p.Gln1285Arg,24/27,\N,Likely benign,\N,missense_variant,12.18,0.000172951,EXAC_AMR_AF,TCOF1
686075,5:149775926:C>A,NM_000356.3:c.3632C>A,NP_000347.2:p.Thr1211Asn,23/26,\N,Unknown significance,\N,missense_variant,18.88,0.0000605767,EXAC_SAS_AF,TCOF1
686076,5:149775930:G>A,NM_001135243.1:c.3867G>A,NP_001128715.1:p.Leu1289=,24/27,\N,Unknown significance,\N,synonymous_variant,3.831,0.0000605767,EXAC_SAS_AF,TCOF1
686077,5:149775932:C>T,NM_001135243.1:c.3869C>T,NP_001128715.1:p.Ala1290Val,24/27,\N,Likely benign,\N,missense_variant,19.52,0.000151194,EXAC_FIN_AF,TCOF1
686078,5:149775932:CG>C,NM_001135243.1:c.3870del,NP_001128715.1:p.Leu1291CysfsTer16,24/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,17.71,\N,\N,TCOF1
686079,5:149775933:G>A,NM_001135243.1:c.3870G>A,NP_001128715.1:p.Ala1290=,24/27,\N,Unknown significance,\N,synonymous_variant,8.313,0.000226963,EVS_AA_AF,TCOF1
686080,5:149775941:G>A,NM_001135243.1:c.3878G>A,NP_001128715.1:p.Ser1293Asn,24/27,\N,Likely benign,\N,missense_variant,2.098,0.0000865351,EXAC_AMR_AF,TCOF1
686081,5:149775947:T>A,NM_001135243.1:c.3884T>A,NP_001128715.1:p.Ile1295Asn,24/27,\N,Unknown significance,\N,missense_variant,25.1,0.0000151071,EXAC_NFE_AF,TCOF1
686082,5:149775960:C>T,NM_001135243.1:c.3897C>T,NP_001128715.1:p.Leu1299=,24/27,\N,Unknown significance,\N,synonymous_variant,11.42,0.000226963,EVS_AA_AF,TCOF1
686083,5:149775961:C>T,NM_001135243.1:c.3898C>T,NP_001128715.1:p.Leu1300=,24/27,\N,Unknown significance,\N,synonymous_variant,11.52,0.0000151213,EXAC_NFE_AF,TCOF1
686084,5:149775963:G>A,NM_001135243.1:c.3900G>A,NP_001128715.1:p.Leu1300=,24/27,\N,Unknown significance,\N,synonymous_variant,4.936,0.0000302435,EXAC_NFE_AF,TCOF1
686085,5:149775970:C>T,NM_001135243.1:c.3907C>T,NP_001128715.1:p.Pro1303Ser,24/27,\N,Likely benign,\N,missense_variant,7.243,0.00003027,EXAC_NFE_AF,TCOF1
686086,5:149775976:C>T,NM_001135243.1:c.3913C>T,NP_001128715.1:p.Pro1305Ser,24/27,\N,Unknown significance,\N,missense_variant,23.3,0.000116279,EVS_EA_AF,TCOF1
686087,5:149775983:A>G,NM_001135243.1:c.3920A>G,NP_001128715.1:p.Asn1307Ser,24/27,\N,Likely benign,\N,missense_variant,0.001,0.0000151534,EXAC_NFE_AF,TCOF1
686088,5:149775985:G>A,NM_001135243.1:c.3922G>A,NP_001128715.1:p.Glu1308Lys,24/27,\N,Unknown significance,\N,missense_variant,26,\N,\N,TCOF1
686089,5:149775992:AG>A,NM_001135243.1:c.3931del,NP_001128715.1:p.Val1311CysfsTer6,24/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,28.2,\N,\N,TCOF1
686090,5:149775997:C>G,NM_000356.3:c.3703C>G,NP_000347.2:p.Gln1235Glu,23/26,\N,Unknown significance,\N,missense_variant,25.2,0.0000868659,EXAC_AMR_AF,TCOF1
686091,5:149775998:A>G,NM_001135243.1:c.3935A>G,NP_001128715.1:p.Gln1312Arg,24/27,\N,Unknown significance,\N,missense_variant,25.2,\N,\N,TCOF1
686092,5:149776003:T>A,NM_001135243.1:c.3940T>A,NP_001128715.1:p.Ser1314Thr,24/27,\N,Unknown significance,\N,missense_variant,24.2,0.000116741,EXAC_EAS_AF,TCOF1
686093,5:149776004:CAG>C,NM_001135243.1:c.3942_3943del,NP_001128715.1:p.Val1315GlyfsTer6,24/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,27.7,\N,\N,TCOF1
686094,5:149776005:A>C,NM_001135243.1:c.3942A>C,NP_001128715.1:p.Ser1314=,24/27,\N,Likely benign,Treacher collins syndrome 1,synonymous_variant,0.019,0.002,1KG_EUR_AF,TCOF1
686095,5:149776017:C>T,NM_001135243.1:c.3954C>T,NP_001128715.1:p.Val1318=,24/27,\N,Unknown significance,\N,synonymous_variant,12.78,0.0000876578,EXAC_AMR_AF,TCOF1
686096,5:149776020:G>A,NM_001135243.1:c.3957G>A,NP_001128715.1:p.Leu1319=,24/27,\N,Unknown significance,\N,synonymous_variant,3.126,\N,\N,TCOF1
686097,5:149776029:G>A,NM_001135243.1:c.3966G>A,NP_001128715.1:p.Leu1322=,24/27,\N,Unknown significance,\N,synonymous_variant,8.942,0.0000155962,EXAC_NFE_AF,TCOF1
686098,5:149776038:GGAAA>G,NM_001135243.1:c.3983_3986del,NP_001128715.1:p.Lys1328ArgfsTer246,24/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,35,\N,\N,TCOF1
686099,5:149776047:G>T,NM_000356.3:c.3753G>T,NP_000347.2:p.Lys1251Asn,23/26,\N,Unknown significance,\N,missense_variant,25.7,0.0031,1KG_SAS_AF,TCOF1
686100,5:149776050:G>A,NM_001135243.1:c.3987G>A,NP_001128715.1:p.Lys1329=,24/27,\N,Unknown significance,\N,synonymous_variant,9.655,0.0000643666,EXAC_SAS_AF,TCOF1
686101,5:149776051:G>A,NM_001135243.1:c.3988G>A,NP_001128715.1:p.Val1330Met,24/27,\N,Unknown significance,\N,missense_variant,22.6,0.0000504915,EXAC_NFE_AF,TCOF1
686102,5:149776057:G>A,NM_001135243.1:c.3994G>A,NP_001128715.1:p.Asp1332Asn,24/27,\N,Likely benign,\N,missense_variant,19.27,0.000142126,EXAC_EAS_AF,TCOF1
686103,5:149776060:A>C,NM_001135243.1:c.3997A>C,NP_001128715.1:p.Thr1333Pro,24/27,\N,Likely benign,\N,missense_variant,5.562,0.0001468,EXAC_EAS_AF,TCOF1
686104,5:149776061:C>T,NM_001135243.1:c.3998C>T,NP_001128715.1:p.Thr1333Ile,24/27,\N,Likely benign,\N,missense_variant,16.74,0.0008,1KG_AFR_AF,TCOF1
686105,5:149776062:C>T,NM_001135243.1:c.3999C>T,NP_001128715.1:p.Thr1333=,24/27,\N,Unknown significance,\N,synonymous_variant,9.582,0.0000671772,EXAC_SAS_AF,TCOF1
686106,5:149776067:A>G,NM_000356.3:c.3773A>G,NP_000347.2:p.Lys1258Arg,23/26,\N,Benign,\N,missense_variant,19.11,0.0267009,EXAC_FIN_AF,TCOF1
686107,5:149776068:G>A,NM_001135243.1:c.4005G>A,NP_001128715.1:p.Lys1335=,24/27,\N,Unknown significance,\N,synonymous_variant,11.75,0.0000191161,EXAC_NFE_AF,TCOF1
686108,5:149776073:G>GC,NM_001135243.1:c.4011dup,NP_001128715.1:p.Ser1338GlnfsTer61,24/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,35,\N,\N,TCOF1
686109,5:149776077:C>T,NM_001135243.1:c.4014C>T,NP_001128715.1:p.Ser1338=,24/27,\N,Unknown significance,\N,synonymous_variant,13.78,0.0000206894,EXAC_NFE_AF,TCOF1
686110,5:149776081:A>G,NM_001135243.1:c.4018A>G,NP_001128715.1:p.Lys1340Glu,24/27,\N,Unknown significance,\N,missense_variant,26.1,\N,\N,TCOF1
686111,5:149776083:G>A,NM_001135243.1:c.4020G>A,NP_001128715.1:p.Lys1340=,24/27,\N,Unknown significance,\N,synonymous_variant,10.92,0.0010993,EXAC_EAS_AF,TCOF1
686112,5:149776085:GC>G,NM_001135243.1:c.4023del,NP_001128715.1:p.Trp1342GlyfsTer233,24/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,32,\N,\N,TCOF1
686113,5:149776094:G>A,NM_001135243.1:c.4031G>A,NP_001128715.1:p.Ser1344Asn,24/27,\N,Unknown significance,\N,missense_variant,22.3,0.0000250338,EXAC_NFE_AF,TCOF1
686114,5:149776096:C>A,NM_001135243.1:c.4033C>A,NP_001128715.1:p.Arg1345Ser,24/27,\N,Unknown significance,\N,missense_variant,26.8,0.00021815,EXAC_EAS_AF,TCOF1
686115,5:149776104:G>A,NM_001135243.1:c.4041G>A,NP_001128715.1:p.Arg1347=,24/27,\N,Unknown significance,\N,synonymous_variant,8.469,\N,\N,TCOF1
686116,5:149776107:G>T,NM_001135243.1:c.4044G>T,NP_001128715.1:p.Lys1348Asn,24/27,\N,Unknown significance,\N,missense_variant,26.3,0.0000304025,EXAC_NFE_AF,TCOF1
686117,5:149776108:C>A,NM_001135243.1:c.4045C>A,NP_001128715.1:p.Leu1349Ile,24/27,\N,Unknown significance,\N,missense_variant,25.8,0.0000304637,EXAC_NFE_AF,TCOF1
686118,5:149776112:C>T,NM_001135243.1:c.4049C>T,NP_001128715.1:p.Ser1350Leu,24/27,\N,Likely benign,\N,missense_variant,26.4,0.000394477,EXAC_AFR_AF,TCOF1
686119,5:149776113:G>A,NM_001135243.1:c.4050G>A,NP_001128715.1:p.Ser1350=,24/27,\N,Benign,\N,synonymous_variant,8.96,0.0546567,EXAC_AFR_AF,TCOF1
686120,5:149776122:GC>G,NM_001135243.1:c.4061del,NP_001128715.1:p.Pro1354GlnfsTer221,24/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,20.4,\N,\N,TCOF1
686121,5:149776130:C>T,NM_001135243.1:c.4067C>T,NP_001128715.1:p.Ala1356Val,24/27,\N,Unknown significance,\N,missense_variant,20.6,0.000757002,EXAC_AMR_AF,TCOF1
686122,5:149776135:A>T,NM_000356.3:c.3841A>T,NP_000347.2:p.Thr1281Ser,23/26,\N,Likely benign,\N,missense_variant,1.747,0.000271985,EXAC_SAS_AF,TCOF1
686123,5:149776138:C>G,NM_001135243.1:c.4075C>G,NP_001128715.1:p.Pro1359Ala,24/27,\N,Unknown significance,\N,missense_variant,23,\N,\N,TCOF1
686124,5:149776139:C>T,NM_001135243.1:c.4076C>T,NP_001128715.1:p.Pro1359Leu,24/27,\N,Unknown significance,\N,missense_variant,27.1,0.0014,1KG_AMR_AF,TCOF1
686125,5:149776145:G>C,NM_001135243.1:c.4082G>C,NP_001128715.1:p.Ser1361Thr,24/27,\N,Likely benign,\N,missense_variant,23.5,0.000249252,EXAC_AFR_AF,TCOF1
686126,5:149776146:CAAG>C,NM_001135243.1:c.4096_4098del,NP_001128715.1:p.Lys1366del,24/27,\N,Pathogenic,Treacher-Collins syndrome,inframe_deletion,16.1,\N,\N,TCOF1
686127,5:149776151:A>G,NM_001135243.1:c.4088A>G,NP_001128715.1:p.Lys1363Arg,24/27,\N,Unknown significance,\N,missense_variant,24.9,0.0000395444,EXAC_NFE_AF,TCOF1
686128,5:149776159:A>C,NM_001135243.1:c.4096A>C,NP_001128715.1:p.Lys1366Gln,24/27,\N,Likely benign,\N,missense_variant,0.001,0.00105101,EXAC_NFE_AF,TCOF1
686129,5:149776165:G>C,NM_001135243.1:c.4102G>C,NP_001128715.1:p.Gly1368Arg,24/27,\N,Unknown significance,\N,missense_variant,23.4,0.0008,1KG_AFR_AF,TCOF1
686130,5:149776167:G>A,NM_001135243.1:c.4104G>A,NP_001128715.1:p.Gly1368=,24/27,\N,Unknown significance,\N,synonymous_variant,1.676,0.000235405,EXAC_AFR_AF,TCOF1
686131,5:149776170:C>T,NM_001135243.1:c.4107C>T,NP_001128715.1:p.Ala1369=,24/27,\N,Unknown significance,\N,synonymous_variant,13.73,0.000233372,EVS_EA_AF,TCOF1
686132,5:149776180:G>A,NM_001135243.1:c.4117G>A,NP_001128715.1:p.Gly1373Arg,24/27,\N,Likely benign,\N,missense_variant,8.058,0.000179759,EXAC_SAS_AF,TCOF1
686133,5:149776181:G>A,NM_001135243.1:c.4118G>A,NP_001128715.1:p.Gly1373Glu,24/27,\N,Likely benign,\N,missense_variant,18.19,0.0000897344,EXAC_SAS_AF,TCOF1
686134,5:149776187:C>T,NM_000356.3:c.3893C>T,NP_000347.2:p.Ala1298Val,23/26,\N,Likely benign,\N,missense_variant,16.71,0.000197707,EXAC_AFR_AF,TCOF1
686135,5:149776187:CCT>C,NM_001135243.1:c.4127_4128del,NP_001128715.1:p.Ser1376CysfsTer22,24/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,24.9,\N,\N,TCOF1
686136,5:149776192:GT>G,NM_001135243.1:c.4132del,NP_001128715.1:p.Ser1378ProfsTer197,24/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,21.6,\N,\N,TCOF1
686137,5:149776192:GTT>G,NM_001135243.1:c.4131_4132del,NP_001128715.1:p.Ser1378ProfsTer20,24/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,23.9,\N,\N,TCOF1
686138,5:149776208:C>T,NM_001135243.1:c.4145C>T,NP_001128715.1:p.Thr1382Ile,24/27,\N,Likely benign,\N,missense_variant,22.7,0.0000828226,EXAC_SAS_AF,TCOF1
686139,5:149776211:C>T,NM_001135243.1:c.4148C>T,NP_001128715.1:p.Ser1383Phe,24/27,\N,Unknown significance,\N,missense_variant,25.5,0.000026455,EXAC_NFE_AF,TCOF1
686140,5:149776213:A>G,NM_001135243.1:c.4150A>G,NP_001128715.1:p.Thr1384Ala,24/27,\N,Likely benign,\N,missense_variant,0.396,0.002,1KG_SAS_AF,TCOF1
686141,5:149776214:C>T,NM_001135243.1:c.4151C>T,NP_001128715.1:p.Thr1384Met,24/27,\N,Likely benign,\N,missense_variant,11.77,0.000161943,EXAC_SAS_AF,TCOF1
686142,5:149776215:G>A,NM_001135243.1:c.4152G>A,NP_001128715.1:p.Thr1384=,24/27,\N,Unknown significance,\N,synonymous_variant,13.77,0.00177936,EXAC_OTH_AF,TCOF1
686143,5:149776223:A>AG,NM_001135243.1:c.4164dup,NP_001128715.1:p.Lys1389GlufsTer10,24/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,35,\N,\N,TCOF1
686144,5:149776227:G>T,NM_001135243.1:c.4164G>T,NP_001128715.1:p.Gly1388=,24/27,\N,Unknown significance,\N,synonymous_variant,9.672,\N,\N,TCOF1
686145,5:149776231:G>A,NM_001135243.1:c.4168G>A,NP_001128715.1:p.Ala1390Thr,24/27,\N,Likely benign,\N,missense_variant,21.4,0.000155328,EXAC_EAS_AF,TCOF1
686146,5:149776232:C>T,NM_001135243.1:c.4169C>T,NP_001128715.1:p.Ala1390Val,24/27,\N,Benign,\N,missense_variant,26.1,0.3906,1KG_SAS_AF,TCOF1
686147,5:149776234:AAG>A,NM_001135243.1:c.4177_4178del,NP_001128715.1:p.Asp1393GlnfsTer5,24/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,34,\N,\N,TCOF1
686148,5:149776238:G>C,NM_001135243.1:c.4175G>C,NP_001128715.1:p.Arg1392Thr,24/27,\N,Likely benign,\N,missense_variant,18.37,0.000116279,EVS_EA_AF,TCOF1
686149,5:149776239:A>G,NM_001135243.1:c.4176A>G,NP_001128715.1:p.Arg1392=,24/27,\N,Unknown significance,\N,synonymous_variant,4.86,0.0000677599,EXAC_SAS_AF,TCOF1
686150,5:149776240:G>A,NM_001135243.1:c.4177G>A,NP_001128715.1:p.Asp1393Asn,24/27,\N,Unknown significance,\N,missense_variant,18.38,0.000109409,EXAC_AMR_AF,TCOF1
686151,5:149776242:C>A,NM_001135243.1:c.4179C>A,NP_001128715.1:p.Asp1393Glu,24/27,\N,Likely benign,\N,missense_variant,19.27,0.000138274,EXAC_EAS_AF,TCOF1
686152,5:149776242:C>T,NM_001135243.1:c.4179C>T,NP_001128715.1:p.Asp1393=,24/27,\N,Unknown significance,\N,synonymous_variant,10.53,0.003,1KG_EAS_AF,TCOF1
686153,5:149776244:A>G,NM_001135243.1:c.4181A>G,NP_001128715.1:p.Lys1394Arg,24/27,\N,Likely benign,\N,missense_variant,2.214,0.000124224,EXAC_AFR_AF,TCOF1
686154,5:149776246:G>T,NM_001135243.1:c.4183G>T,NP_001128715.1:p.Ala1395Ser,24/27,\N,Unknown significance,\N,missense_variant,23.3,0.000226963,EVS_AA_AF,TCOF1
686155,5:149776247:C>T,NM_001135243.1:c.4184C>T,NP_001128715.1:p.Ala1395Val,24/27,\N,Likely benign,\N,missense_variant,21.2,0.0000352908,EXAC_NFE_AF,TCOF1
686156,5:149776249:A>G,NM_000356.3:c.3955A>G,NP_000347.2:p.Ser1319Gly,23/26,\N,Unknown significance,\N,missense_variant,10.07,0.000123244,EXAC_AFR_AF,TCOF1
686157,5:149776260:CAAG>C,NM_001135243.1:c.4198_4200del,NP_001128715.1:p.Lys1400del,24/27,\N,Unknown significance,\N,inframe_deletion,13.2,0.0000675767,EXAC_SAS_AF,TCOF1
686158,5:149776261:AAGG>A,NM_001135243.1:c.4201_4203del,NP_001128715.1:p.Glu1401del,24/27,\N,Unknown significance,\N,inframe_deletion,8.499,0.000272628,EXAC_EAS_AF,TCOF1
686159,5:149776264:G>A,NM_001135243.1:c.4201G>A,NP_001128715.1:p.Glu1401Lys,24/27,\N,Likely benign,\N,missense_variant,20.7,0.000035084,EXAC_NFE_AF,TCOF1
686160,5:149776268:A>G,NM_001135243.1:c.4205A>G,NP_001128715.1:p.Lys1402Arg,24/27,\N,Unknown significance,\N,missense_variant,18.66,0.0000175236,EXAC_NFE_AF,TCOF1
686161,5:149776268:AGAAAG>A,NM_001135243.1:c.4207_4211del,NP_001128715.1:p.Lys1403GlufsTer25,24/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,35,\N,\N,TCOF1
686162,5:149776277:A>AG,NM_001135243.1:c.4218dup,NP_001128715.1:p.Ser1407ValfsTer23,24/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,34,\N,\N,TCOF1
686163,5:149776281:G>C,NM_001135243.1:c.4218G>C,NP_001128715.1:p.Gly1406=,24/27,\N,Unknown significance,\N,synonymous_variant,6.869,0.000017696,EXAC_NFE_AF,TCOF1
686164,5:149776281:GT>G,NM_001135243.1:c.4219del,NP_001128715.1:p.Ser1407LeufsTer168,24/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,23.5,\N,\N,TCOF1
686165,5:149776282:T>C,NM_001135243.1:c.4219T>C,NP_001128715.1:p.Ser1407Pro,24/27,\N,Likely benign,\N,missense_variant,2.135,\N,\N,TCOF1
686166,5:149776285:C>T,NM_001135244.1:c.4111C>T,NP_001128716.1:p.Leu1371Phe,23/26,\N,Likely benign,\N,missense_variant,11.59,0.0000355834,EXAC_NFE_AF,TCOF1
686167,5:149776294:C>T,NM_001135243.1:c.4231C>T,NP_001128715.1:p.Gln1411Ter,24/27,\N,Pathogenic,Treacher-Collins syndrome,stop_gained,36,\N,\N,TCOF1
686168,5:149776300:G>A,NM_001135243.1:c.4237G>A,NP_001128715.1:p.Ala1413Thr,24/27,\N,Unknown significance,\N,missense_variant,23.2,0.000128469,EXAC_AFR_AF,TCOF1
686169,5:149776308:C>T,NM_001135243.1:c.4245C>T,NP_001128715.1:p.Asp1415=,24/27,\N,Unknown significance,\N,synonymous_variant,13.54,0.00116306,EVS_EA_AF,TCOF1
686170,5:149776309:G>A,NM_001135243.1:c.4246G>A,NP_001128715.1:p.Glu1416Lys,24/27,\N,Likely benign,\N,missense_variant,9.521,0.000280859,EXAC_SAS_AF,TCOF1
686171,5:149776309:G>C,NM_001135243.1:c.4246G>C,NP_001128715.1:p.Glu1416Gln,24/27,\N,Likely benign,\N,missense_variant,12.33,0.000280859,EXAC_SAS_AF,TCOF1
686172,5:149776312:CCAGAAGAGGAGCTT>C,NM_001135243.1:c.4256_4269del,NP_001128715.1:p.Glu1419GlyfsTer6,24/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,34,\N,\N,TCOF1
686173,5:149776323:G>A,NM_001135243.1:c.4260G>A,NP_001128715.1:p.Glu1420=,24/27,\N,Unknown significance,\N,synonymous_variant,6.219,0.000190694,EXAC_FIN_AF,TCOF1
686174,5:149776334:G>T,NM_000356.3:c.4040G>T,NP_000347.2:p.Gly1347Val,23/26,\N,Unknown significance,\N,missense_variant,20.4,0.0000728651,EXAC_SAS_AF,TCOF1
686175,5:149776343:C>A,NM_001135243.1:c.4280C>A,NP_001128715.1:p.Thr1427Lys,24/27,\N,Likely benign,\N,missense_variant,4.658,\N,\N,TCOF1
686176,5:149776343:C>T,NM_001135243.1:c.4280C>T,NP_001128715.1:p.Thr1427Met,24/27,\N,Likely benign,\N,missense_variant,20.3,0.0000742611,EXAC_SAS_AF,TCOF1
686177,5:149776344:G>A,NM_001135243.1:c.4281G>A,NP_001128715.1:p.Thr1427=,24/27,\N,Unknown significance,\N,synonymous_variant,12.28,0.000150286,EXAC_EAS_AF,TCOF1
686178,5:149776344:G>T,NM_001135243.1:c.4281G>T,NP_001128715.1:p.Thr1427=,24/27,\N,Unknown significance,\N,synonymous_variant,8.568,0.00147493,EXAC_OTH_AF,TCOF1
686179,5:149776346:T>C,NM_001135243.1:c.4283T>C,NP_001128715.1:p.Val1428Ala,24/27,\N,Likely benign,\N,missense_variant,13.58,0.000227376,EVS_AA_AF,TCOF1
686180,5:149776350:A>C,NM_001135243.1:c.4287A>C,NP_001128715.1:p.Glu1429Asp,24/27,\N,Likely benign,\N,missense_variant,9.1,0.00030581,EXAC_EAS_AF,TCOF1
686181,5:149776355:G>C,NM_001135243.1:c.4292G>C,NP_001128715.1:p.Gly1431Ala,24/27,\N,Benign,\N,missense_variant,23.6,0.0348,1KG_EUR_AF,TCOF1
686182,5:149776358:AT>GA,NM_001135243.1:c.4295_4296delinsGA,NP_001128715.1:p.Asp1432Gly,24/27,\N,Likely benign,Treacher collins syndrome 1,missense_variant,\N,\N,\N,TCOF1
686183,5:149776370:C>T,NM_001135243.1:c.4307C>T,NP_001128715.1:p.Pro1436Leu,24/27,\N,Likely benign,\N,missense_variant,24.1,0.0000241034,EXAC_NFE_AF,TCOF1
686184,5:149776374:G>A,NM_001135243.1:c.4311G>A,NP_001128715.1:p.Lys1437=,24/27,\N,Unknown significance,\N,synonymous_variant,15.14,\N,\N,TCOF1
686185,5:149776374:G>C,NM_001135243.1:c.4311G>C,NP_001128715.1:p.Lys1437Asn,24/27,\N,Unknown significance,\N,missense_variant,23.8,0.0000257559,EXAC_NFE_AF,TCOF1
686186,5:149776376:G>A,NM_001135243.1:c.4313G>A,NP_001128715.1:p.Ser1438Asn,24/27,\N,Likely benign,\N,missense_variant,13.28,0.0000258625,EXAC_NFE_AF,TCOF1
686187,5:149776381:AAGG>A,NM_001135243.1:c.4321_4323del,NP_001128715.1:p.Glu1441del,24/27,\N,Unknown significance,\N,inframe_deletion,12.56,\N,\N,TCOF1
686188,5:149776382:AG>A,NM_001135243.1:c.4321del,NP_001128715.1:p.Glu1441ArgfsTer134,24/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,25.7,\N,\N,TCOF1
686189,5:149776383:G>A,NM_001135243.1:c.4320G>A,NP_001128715.1:p.Lys1440=,24/27,\N,Unknown significance,\N,synonymous_variant,13.96,0.0008,1KG_AFR_AF,TCOF1
686190,5:149776384:GAGA>G,NM_001135243.1:c.4329_4331del,NP_001128715.1:p.Lys1444del,24/27,\N,Benign*,\N,inframe_deletion,16.42,0.016129,EXAC_FIN_AF,TCOF1
686191,5:149776386:G>A,NM_001135243.1:c.4323G>A,NP_001128715.1:p.Glu1441=,24/27,\N,Unknown significance,\N,synonymous_variant,13.73,\N,\N,TCOF1
686192,5:149776387:A>G,NM_001135243.1:c.4324A>G,NP_001128715.1:p.Lys1442Glu,24/27,\N,Unknown significance,\N,missense_variant,23.4,0.0000577034,EXAC_NFE_AF,TCOF1
686193,5:149776391:A>C,NM_001135243.1:c.4328A>C,NP_001128715.1:p.Lys1443Thr,24/27,\N,Unknown significance,\N,missense_variant,24.6,0.000438212,EXAC_EAS_AF,TCOF1
686194,5:149776392:G>A,NM_001135243.1:c.4329G>A,NP_001128715.1:p.Lys1443=,24/27,\N,Unknown significance,\N,synonymous_variant,15.31,0.001,1KG_EUR_AF,TCOF1
686195,5:149776398:C>T,NM_001135243.1:c.4335C>T,NP_001128715.1:p.Ser1445=,24/27,\N,Unknown significance,\N,synonymous_variant,17.71,0.001,1KG_SAS_AF,TCOF1
686196,5:149776400:A>C,NM_001135243.1:c.4337A>C,NP_001128715.1:p.Asp1446Ala,24/27,\N,Unknown significance,\N,missense_variant,16.91,0.0000968242,EXAC_SAS_AF,TCOF1
686197,5:149776401:CAA>C,NM_001135243.1:c.4339_4340del,NP_001128715.1:p.Lys1447GlufsTer23,24/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant&splice_region_variant,36,\N,\N,TCOF1
686198,5:149776403:A>G,NM_001135243.1:c.4340A>G,NP_001128715.1:p.Lys1447Arg,24/27,\N,Unknown significance,\N,missense_variant&splice_region_variant,24.3,0.0008,1KG_AFR_AF,TCOF1
686199,5:149776405:A>T,NM_001135243.1:c.4342A>T,NP_001128715.1:p.Arg1448Ter,24/27,\N,Pathogenic,Treacher-Collins syndrome,stop_gained&splice_region_variant,49,\N,\N,TCOF1
686200,5:149776406:G>T,NM_001135243.1:c.4342+1G>T,\N,\N,24/26,Pathogenic,Treacher-Collins syndrome,splice_donor_variant,24.2,\N,\N,TCOF1
686201,5:149776412:G>A,NM_001135243.1:c.4342+7G>A,\N,\N,24/26,Unknown significance,\N,splice_region_variant&intron_variant,10.2,0.000103541,EXAC_SAS_AF,TCOF1
686202,5:149776415:C>T,NM_001135243.1:c.4342+10C>T,\N,\N,24/26,Unknown significance,\N,intron_variant,3.874,0.00180397,EXAC_AFR_AF,TCOF1
686203,5:149776416:G>A,NM_001135243.1:c.4342+11G>A,\N,\N,24/26,Unknown significance,\N,intron_variant,0.01,0.0023,1KG_AFR_AF,TCOF1
686204,5:149776416:G>C,NM_001135243.1:c.4342+11G>C,\N,\N,24/26,Unknown significance,\N,intron_variant,0.003,0.000539724,EXAC_SAS_AF,TCOF1
686205,5:149776419:T>G,NM_001135243.1:c.4342+14T>G,\N,\N,24/26,Unknown significance,\N,intron_variant,5.704,\N,\N,TCOF1
686206,5:149776421:T>C,NM_001135243.1:c.4342+16T>C,\N,\N,24/26,Unknown significance,\N,intron_variant,2.034,0.0029,1KG_AMR_AF,TCOF1
686207,5:149776422:C>T,NM_001135243.1:c.4342+17C>T,\N,\N,24/26,Unknown significance,\N,intron_variant,6.568,\N,\N,TCOF1
686208,5:149776432:C>G,NM_001135243.1:c.4342+27C>G,\N,\N,24/26,Unknown significance,\N,intron_variant,1.046,0.000114312,EXAC_SAS_AF,TCOF1
686209,5:149776436:A>G,NM_001135243.1:c.4342+31A>G,\N,\N,24/26,Unknown significance,\N,intron_variant,5.22,\N,\N,TCOF1
686210,5:149776443:C>T,NM_001135243.1:c.4342+38C>T,\N,\N,24/26,Unknown significance,\N,intron_variant,6.094,0.000490196,EXAC_AFR_AF,TCOF1
686211,5:149776444:T>C,NM_001135243.1:c.4342+39T>C,\N,\N,24/26,Unknown significance,\N,intron_variant,2.767,\N,\N,TCOF1
686212,5:149776448:C>T,NM_001135243.1:c.4342+43C>T,\N,\N,24/26,Unknown significance,\N,intron_variant,3.151,0.001,1KG_SAS_AF,TCOF1
686213,5:149776453:C>A,NM_001135243.1:c.4342+48C>A,\N,\N,24/26,Unknown significance,\N,intron_variant,4.642,\N,\N,TCOF1
686214,5:149776455:C>T,NM_001135243.1:c.4342+50C>T,\N,\N,24/26,Unknown significance,\N,intron_variant,0.635,0.001,1KG_SAS_AF,TCOF1
686215,5:149776455:CG>C,NM_001135243.1:c.4342+55del,\N,\N,24/26,Unknown significance,\N,intron_variant,2.02,0.000608273,EXAC_AFR_AF,TCOF1
686216,5:149776457:G>A,NM_001135243.1:c.4342+52G>A,\N,\N,24/26,Unknown significance,\N,intron_variant,5.413,0.001,1KG_SAS_AF,TCOF1
686217,5:149776509:AAG>A,NM_001135243.1:c.4342+109_4342+110del,\N,\N,24/26,Unknown significance,\N,intron_variant,11.14,0.0023,1KG_AFR_AF,TCOF1
686218,5:149776517:C>T,NM_001135243.1:c.4342+112C>T,\N,\N,24/26,Unknown significance,\N,intron_variant,12.42,0.001,1KG_EAS_AF,TCOF1
686219,5:149776528:C>T,NM_001135243.1:c.4342+123C>T,\N,\N,24/26,Unknown significance,\N,intron_variant,9.854,0.0014,1KG_AMR_AF,TCOF1
686220,5:149776542:A>G,NM_001135243.1:c.4342+137A>G,\N,\N,24/26,Benign,\N,intron_variant,0.607,0.0204,1KG_AFR_AF,TCOF1
686221,5:149776549:C>T,NM_001135243.1:c.4342+144C>T,\N,\N,24/26,Unknown significance,\N,intron_variant,0.294,0.0008,1KG_AFR_AF,TCOF1
686222,5:149776550:G>A,NM_001135243.1:c.4342+145G>A,\N,\N,24/26,Unknown significance,\N,intron_variant,2.342,0.002,1KG_SAS_AF,TCOF1
686223,5:149776628:A>C,NM_001135243.1:c.4342+223A>C,\N,\N,24/26,Benign,\N,intron_variant,1.552,0.0358,1KG_EUR_AF,TCOF1
686224,5:149776664:G>A,NM_001135243.1:c.4342+259G>A,\N,\N,24/26,Unknown significance,\N,intron_variant,0.495,0.001,1KG_EAS_AF,TCOF1
686225,5:149776679:G>T,NM_001135243.1:c.4342+274G>T,\N,\N,24/26,Benign,\N,intron_variant,0.528,0.006,1KG_EAS_AF,TCOF1
686226,5:149776693:C>T,NM_001135243.1:c.4342+288C>T,\N,\N,24/26,Unknown significance,\N,intron_variant,3.798,0.0045,1KG_AFR_AF,TCOF1
686227,5:149776707:C>T,NM_001135243.1:c.4342+302C>T,\N,\N,24/26,Unknown significance,\N,intron_variant,2.245,0.0008,1KG_AFR_AF,TCOF1
686228,5:149776716:C>CA,NM_001135243.1:c.4342+332dup,\N,\N,24/26,Unknown significance,\N,intron_variant,10.52,\N,\N,TCOF1
686229,5:149776716:C>CAAA,NM_001135243.1:c.4342+330_4342+332dup,\N,\N,24/26,Unknown significance,\N,intron_variant,10.33,\N,\N,TCOF1
686230,5:149776716:C>CAAAA,NM_001135243.1:c.4342+329_4342+332dup,\N,\N,24/26,Unknown significance,\N,intron_variant,10.23,\N,\N,TCOF1
686231,5:149776716:CA>C,NM_001135243.1:c.4342+332del,\N,\N,24/26,Benign,\N,intron_variant,11.46,0.6272,1KG_EUR_AF,TCOF1
686232,5:149776738:G>T,NM_001135243.1:c.4342+333G>T,\N,\N,24/26,Unknown significance,\N,intron_variant,10.23,0.0008,1KG_AFR_AF,TCOF1
686233,5:149776741:T>C,NM_001135243.1:c.4342+336T>C,\N,\N,24/26,Unknown significance,\N,intron_variant,10.6,0.001,1KG_EAS_AF,TCOF1
686234,5:149776789:G>A,NM_001135243.1:c.4342+384G>A,\N,\N,24/26,Unknown significance,\N,intron_variant,4.265,\N,\N,TCOF1
686235,5:149776794:C>T,NM_001135243.1:c.4342+389C>T,\N,\N,24/26,Unknown significance,\N,intron_variant,0.76,0.001,1KG_EUR_AF,TCOF1
686236,5:149776796:A>AG,NM_001135243.1:c.4342+391_4342+392insG,\N,\N,24/26,Unknown significance,\N,intron_variant,0.39,\N,\N,TCOF1
686237,5:149776817:C>T,NM_001135243.1:c.4342+412C>T,\N,\N,24/26,Unknown significance,\N,intron_variant,6.675,0.002,1KG_EAS_AF,TCOF1
686238,5:149776828:A>G,NM_001135243.1:c.4342+423A>G,\N,\N,24/26,Unknown significance,\N,intron_variant,11,\N,\N,TCOF1
686239,5:149776842:C>T,NM_001135243.1:c.4342+437C>T,\N,\N,24/26,Unknown significance,\N,intron_variant,6.027,\N,\N,TCOF1
686240,5:149776857:T>A,NM_001135243.1:c.4342+452T>A,\N,\N,24/26,Unknown significance,\N,intron_variant,5.717,\N,\N,TCOF1
686241,5:149776877:A>G,NM_001135243.1:c.4342+472A>G,\N,\N,24/26,Unknown significance,\N,intron_variant,9.874,0.0045,1KG_AFR_AF,TCOF1
686242,5:149776898:C>T,NM_001135243.1:c.4342+493C>T,\N,\N,24/26,Unknown significance,\N,intron_variant,7.168,0.002,1KG_EAS_AF,TCOF1
686243,5:149776918:G>A,NM_001135243.1:c.4342+513G>A,\N,\N,24/26,Unknown significance,\N,intron_variant,3.974,\N,\N,TCOF1
686244,5:149776922:A>G,NM_001135243.1:c.4342+517A>G,\N,\N,24/26,Unknown significance,\N,intron_variant,2.101,0.001,1KG_EUR_AF,TCOF1
686245,5:149776953:C>T,NM_001135243.1:c.4342+548C>T,\N,\N,24/26,Unknown significance,\N,intron_variant,3.144,0.001,1KG_EAS_AF,TCOF1
686246,5:149776966:C>T,NM_001135243.1:c.4342+561C>T,\N,\N,24/26,Unknown significance,\N,intron_variant,5.713,0.0008,1KG_AFR_AF,TCOF1
686247,5:149776978:TA>T,NM_001135243.1:c.4342+574del,\N,\N,24/26,Unknown significance,\N,intron_variant,8.193,\N,\N,TCOF1
686248,5:149776998:A>G,NM_001135243.1:c.4342+593A>G,\N,\N,24/26,Unknown significance,\N,intron_variant,0.65,0.001,1KG_SAS_AF,TCOF1
686249,5:149777015:T>TA,NM_001135243.1:c.4342+610_4342+611insA,\N,\N,24/26,Benign,\N,intron_variant,1.237,0.0787,1KG_AFR_AF,TCOF1
686250,5:149777038:C>T,NM_001135243.1:c.4342+633C>T,\N,\N,24/26,Unknown significance,\N,intron_variant,0.303,0.001,1KG_EAS_AF,TCOF1
686251,5:149777093:C>T,NM_001135243.1:c.4342+688C>T,\N,\N,24/26,Unknown significance,\N,intron_variant,1.202,0.002,1KG_SAS_AF,TCOF1
686252,5:149777098:C>T,NM_001135243.1:c.4342+693C>T,\N,\N,24/26,Unknown significance,\N,intron_variant,4.462,0.0008,1KG_AFR_AF,TCOF1
686253,5:149777104:C>T,NM_001135243.1:c.4342+699C>T,\N,\N,24/26,Unknown significance,\N,intron_variant,6.251,0.001,1KG_SAS_AF,TCOF1
686254,5:149777111:G>A,NM_001135243.1:c.4342+706G>A,\N,\N,24/26,Unknown significance,\N,intron_variant,4.442,\N,\N,TCOF1
686255,5:149777117:ATGC>A,NM_001135243.1:c.4342+715_4342+717del,\N,\N,24/26,Unknown significance,\N,intron_variant,\N,\N,\N,TCOF1
686256,5:149777154:C>T,NM_001135243.1:c.4342+749C>T,\N,\N,24/26,Benign,\N,intron_variant,7.703,0.0151,1KG_AFR_AF,TCOF1
686257,5:149777169:G>A,NM_001135243.1:c.4343-748G>A,\N,\N,24/26,Unknown significance,\N,intron_variant,6.258,0.001,1KG_EUR_AF,TCOF1
686258,5:149777174:A>G,NM_001135243.1:c.4343-743A>G,\N,\N,24/26,Unknown significance,\N,intron_variant,3.552,0.001,1KG_EAS_AF,TCOF1
686259,5:149777180:G>A,NM_001135243.1:c.4343-737G>A,\N,\N,24/26,Benign,\N,intron_variant,2.105,0.0242,1KG_AFR_AF,TCOF1
686260,5:149777196:G>A,NM_001135243.1:c.4343-721G>A,\N,\N,24/26,Unknown significance,\N,intron_variant,6.4,0.0008,1KG_AFR_AF,TCOF1
686261,5:149777203:T>G,NM_001135243.1:c.4343-714T>G,\N,\N,24/26,Unknown significance,\N,intron_variant,2.233,0.0014,1KG_AMR_AF,TCOF1
686262,5:149777215:C>T,NM_001135243.1:c.4343-702C>T,\N,\N,24/26,Benign,\N,intron_variant,7.257,0.0189,1KG_AFR_AF,TCOF1
686263,5:149777222:GC>G,NM_001135243.1:c.4343-693del,\N,\N,24/26,Unknown significance,\N,intron_variant,\N,\N,\N,TCOF1
686264,5:149777241:A>G,NM_001135243.1:c.4343-676A>G,\N,\N,24/26,Benign,\N,intron_variant,1.376,0.0151,1KG_AFR_AF,TCOF1
686265,5:149777248:G>T,NM_001135243.1:c.4343-669G>T,\N,\N,24/26,Unknown significance,\N,intron_variant,3.242,\N,\N,TCOF1
686266,5:149777250:C>T,NM_001135243.1:c.4343-667C>T,\N,\N,24/26,Benign,\N,intron_variant,6.711,0.0787,1KG_AFR_AF,TCOF1
686267,5:149777327:G>A,NM_001135243.1:c.4343-590G>A,\N,\N,24/26,Unknown significance,\N,intron_variant,5.602,0.001,1KG_EAS_AF,TCOF1
686268,5:149777328:T>A,NM_001135243.1:c.4343-589T>A,\N,\N,24/26,Unknown significance,\N,intron_variant,6.601,0.0008,1KG_AFR_AF,TCOF1
686269,5:149777333:T>C,NM_001135243.1:c.4343-584T>C,\N,\N,24/26,Unknown significance,\N,intron_variant,4.482,\N,\N,TCOF1
686270,5:149777347:C>T,NM_001135243.1:c.4343-570C>T,\N,\N,24/26,Unknown significance,\N,intron_variant,6.63,\N,\N,TCOF1
686271,5:149777397:G>A,NM_001135243.1:c.4343-520G>A,\N,\N,24/26,Unknown significance,\N,intron_variant,12.95,\N,\N,TCOF1
686272,5:149777427:C>T,NM_001135243.1:c.4343-490C>T,\N,\N,24/26,Unknown significance,\N,intron_variant,6.9,0.003,1KG_AFR_AF,TCOF1
686273,5:149777433:T>G,NM_001135243.1:c.4343-484T>G,\N,\N,24/26,Unknown significance,\N,intron_variant,1.153,0.0031,1KG_SAS_AF,TCOF1
686274,5:149777436:AG>A,NM_001135243.1:c.4343-476del,\N,\N,24/26,Unknown significance,\N,intron_variant,0.39,\N,\N,TCOF1
686275,5:149777482:G>T,NM_001135243.1:c.4343-435G>T,\N,\N,24/26,Unknown significance,\N,intron_variant,1.314,\N,\N,TCOF1
686276,5:149777497:A>AT,NM_001135243.1:c.4343-414dup,\N,\N,24/26,Unknown significance,\N,intron_variant,\N,\N,\N,TCOF1
686277,5:149777502:T>C,NM_001135243.1:c.4343-415T>C,\N,\N,24/26,Benign,\N,intron_variant,1.484,0.0129,1KG_AFR_AF,TCOF1
686278,5:149777552:C>T,NM_001135243.1:c.4343-365C>T,\N,\N,24/26,Unknown significance,\N,intron_variant,1.195,\N,\N,TCOF1
686279,5:149777553:G>A,NM_001135243.1:c.4343-364G>A,\N,\N,24/26,Unknown significance,\N,intron_variant,1.183,\N,\N,TCOF1
686280,5:149777586:A>G,NM_001135243.1:c.4343-331A>G,\N,\N,24/26,Benign,\N,intron_variant,4.622,0.0053,1KG_AFR_AF,TCOF1
686281,5:149777588:C>T,NM_001135243.1:c.4343-329C>T,\N,\N,24/26,Unknown significance,\N,intron_variant,4.821,0.0008,1KG_AFR_AF,TCOF1
686282,5:149777603:A>T,NM_001135243.1:c.4343-314A>T,\N,\N,24/26,Unknown significance,\N,intron_variant,2.603,0.0045,1KG_AFR_AF,TCOF1
686283,5:149777612:A>G,NM_001135243.1:c.4343-305A>G,\N,\N,24/26,Benign,\N,intron_variant,2.813,0.0915,1KG_EUR_AF,TCOF1
686284,5:149777635:A>G,NM_001135243.1:c.4343-282A>G,\N,\N,24/26,Unknown significance,\N,intron_variant,2.131,0.0041,1KG_SAS_AF,TCOF1
686285,5:149777690:G>C,NM_001135243.1:c.4343-227G>C,\N,\N,24/26,Unknown significance,\N,intron_variant,0.41,0.0008,1KG_AFR_AF,TCOF1
686286,5:149777724:A>G,NM_001135243.1:c.4343-193A>G,\N,\N,24/26,Benign,\N,intron_variant,2.998,0.0794,1KG_AFR_AF,TCOF1
686287,5:149777731:C>T,NM_001135243.1:c.4343-186C>T,\N,\N,24/26,Unknown significance,\N,intron_variant,2.19,0.003,1KG_AFR_AF,TCOF1
686288,5:149777751:C>T,NM_001135243.1:c.4343-166C>T,\N,\N,24/26,Benign,\N,intron_variant,7.07,0.0061,1KG_SAS_AF,TCOF1
686289,5:149777777:G>A,NM_001135243.1:c.4343-140G>A,\N,\N,24/26,Unknown significance,\N,intron_variant,4.216,0.001,1KG_SAS_AF,TCOF1
686290,5:149777778:C>T,NM_001135243.1:c.4343-139C>T,\N,\N,24/26,Benign,\N,intron_variant,6.241,0.1074,1KG_AFR_AF,TCOF1
686291,5:149777781:C>T,NM_001135243.1:c.4343-136C>T,\N,\N,24/26,Unknown significance,\N,intron_variant,0.035,\N,\N,TCOF1
686292,5:149777784:C>T,NM_001135243.1:c.4343-133C>T,\N,\N,24/26,Unknown significance,\N,intron_variant,7.234,0.001,1KG_EAS_AF,TCOF1
686293,5:149777795:G>A,NM_001135243.1:c.4343-122G>A,\N,\N,24/26,Unknown significance,\N,intron_variant,5.791,0.0014,1KG_AMR_AF,TCOF1
686294,5:149777832:G>T,NM_001135243.1:c.4343-85G>T,\N,\N,24/26,Unknown significance,\N,intron_variant,5.017,0.001,1KG_SAS_AF,TCOF1
686295,5:149777847:C>T,NM_001135243.1:c.4343-70C>T,\N,\N,24/26,Unknown significance,\N,intron_variant,7.743,0.001,1KG_SAS_AF,TCOF1
686296,5:149777875:AT>A,NM_001135243.1:c.4343-40del,\N,\N,24/26,Unknown significance,\N,intron_variant,3.238,0.00221239,EXAC_OTH_AF,TCOF1
686297,5:149777881:A>G,NM_001135243.1:c.4343-36A>G,\N,\N,24/26,Unknown significance,\N,intron_variant,3.298,0.0015,1KG_AFR_AF,TCOF1
686298,5:149777882:T>G,NM_001135243.1:c.4343-35T>G,\N,\N,24/26,Unknown significance,\N,intron_variant,5.189,0.0031,1KG_SAS_AF,TCOF1
686299,5:149777883:CTGT>C,NM_001135243.1:c.4343-29_4343-27del,\N,\N,24/26,Unknown significance,\N,intron_variant,3.971,\N,\N,TCOF1
686300,5:149777892:A>T,NM_001135243.1:c.4343-25A>T,\N,\N,24/26,Unknown significance,\N,intron_variant,2.583,\N,\N,TCOF1
686301,5:149777894:G>C,NM_001135243.1:c.4343-23G>C,\N,\N,24/26,Unknown significance,\N,intron_variant,1.215,0.000060562,EXAC_SAS_AF,TCOF1
686302,5:149777895:A>AACTTT,NM_001135243.1:c.4343-12_4343-8dup,\N,\N,24/26,Unknown significance,\N,intron_variant,\N,0.0000863707,EXAC_AMR_AF,TCOF1
686303,5:149777895:AACTTT>A,NM_001135243.1:c.4343-12_4343-8del,\N,\N,24/26,Unknown significance,\N,intron_variant,7.196,0.000198926,EXAC_AFR_AF,TCOF1
686304,5:149777900:T>A,NM_001135243.1:c.4343-17T>A,\N,\N,24/26,Benign,\N,intron_variant,5.366,0.005,1KG_EUR_AF,TCOF1
686305,5:149777914:T>TAGGAAAAAAAGACA,NM_001135243.1:c.4343-1_4355dup,NP_001128715.1:p.Glu1456ThrfsTer124,\N,24/26,Pathogenic,Treacher-Collins syndrome,splice_region_variant&intron_variant,5.556,\N,\N,TCOF1
686306,5:149777917:G>GA,NM_001135243.1:c.4350dup,NP_001128715.1:p.Asp1451ArgfsTer20,25/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant&splice_region_variant,29.5,\N,\N,TCOF1
686307,5:149777918:A>G,NM_001135243.1:c.4344A>G,NP_001128715.1:p.Arg1448=,25/27,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,2.994,0.000060562,EXAC_SAS_AF,TCOF1
686308,5:149777925:GAC>G,NM_001135243.1:c.4353_4354del,NP_001128715.1:p.Asp1451GlufsTer19,25/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,35,\N,\N,TCOF1
686309,5:149777926:A>G,NM_001135243.1:c.4352A>G,NP_001128715.1:p.Asp1451Gly,25/27,\N,Unknown significance,\N,missense_variant,23.5,0.0000150412,EXAC_NFE_AF,TCOF1
686310,5:149777927:CAAAGAAAAA>C,NM_001135243.1:c.4362_4370del,NP_001128715.1:p.Glu1456_Lys1458del,25/27,\N,Unknown significance,\N,inframe_deletion,19.29,\N,\N,TCOF1
686311,5:149777927:CAA>C,NM_001135243.1:c.4355_4356del,NP_001128715.1:p.Lys1452ArgfsTer18,25/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,35,\N,\N,TCOF1
686312,5:149777930:A>AG,NM_001135243.1:c.4357dup,NP_001128715.1:p.Glu1453GlyfsTer18,25/27,\N,Pathogenic,Hemifacial microsomia,frameshift_variant,34,\N,\N,TCOF1
686313,5:149777931:GA>G,NM_001135243.1:c.4365del,NP_001128715.1:p.Glu1456LysfsTer119,25/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,34,\N,\N,TCOF1
686314,5:149777931:G>C,NM_001135243.1:c.4357G>C,NP_001128715.1:p.Glu1453Gln,25/27,\N,Unknown significance,\N,missense_variant,22.3,0.000226963,EVS_AA_AF,TCOF1
686315,5:149777931:GAAAA>G,NM_001135243.1:c.4362_4365del,NP_001128715.1:p.Glu1456ArgfsTer118,25/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,35,\N,\N,TCOF1
686316,5:149777931:GAAAAA>G,NM_001135243.1:c.4361_4365del,NP_001128715.1:p.Lys1454ArgfsTer15,25/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,35,\N,\N,TCOF1
686317,5:149777935:AAAAAG>A,NM_001135243.1:c.4369_4373del,NP_001128715.1:p.Lys1457GlufsTer12,25/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,35,\N,\N,TCOF1
686318,5:149777936:AAAAG>A,NM_001135243.1:c.4366_4369del,NP_001128715.1:p.Glu1456ArgfsTer118,25/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,35,\N,\N,TCOF1
686319,5:149777937:A>G,NM_001135243.1:c.4363A>G,NP_001128715.1:p.Lys1455Glu,25/27,\N,Unknown significance,\N,missense_variant,23,\N,\N,TCOF1
686320,5:149777937:AAA>TAG,NM_001135243.1:c.4363_4365delinsTAG,NP_001128715.1:p.Lys1455Ter,25/27,\N,Pathogenic,Treacher-Collins syndrome,stop_gained,41,\N,\N,TCOF1
686321,5:149777939:A>AG,NM_001135243.1:c.4366dup,NP_001128715.1:p.Glu1456GlyfsTer15,25/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,34,\N,\N,TCOF1
686322,5:149777940:G>A,NM_001135243.1:c.4366G>A,NP_001128715.1:p.Glu1456Lys,25/27,\N,Likely benign,\N,missense_variant,22.7,0.000030217,EXAC_NFE_AF,TCOF1
686323,5:149777940:GAAA>G,NM_001135243.1:c.4368_4370del,NP_001128715.1:p.Lys1460del,25/27,\N,Unknown significance,\N,inframe_deletion,9.922,0.000294638,EXAC_AFR_AF,TCOF1
686324,5:149777941:A>G,NM_001135243.1:c.4367A>G,NP_001128715.1:p.Glu1456Gly,25/27,\N,Likely benign,\N,missense_variant,17.45,0.000453926,EVS_AA_AF,TCOF1
686325,5:149777941:AAAAGAAGAAGAAAGCAA>GAAAAGAAGAAGAAAGC,NM_001135243.1:c.4367_4384delinsGAAAAGAAGAAGAAAGC,NP_001128715.1:p.Glu1456GlyfsTer119,25/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,\N,\N,\N,TCOF1
686326,5:149777942:AAAG>A,NM_001135243.1:c.4377_4379del,NP_001128715.1:p.Lys1460del,25/27,\N,Likely benign,\N,inframe_deletion,12.19,0.00202051,EXAC_NFE_AF,TCOF1
686327,5:149777942:AAAGAAG>A,NM_001135243.1:c.4374_4379del,NP_001128715.1:p.Lys1459_Lys1460del,25/27,\N,Unknown significance,\N,inframe_deletion,14.51,0.0000301568,EXAC_NFE_AF,TCOF1
686328,5:149777942:A>G,NM_001135243.1:c.4368A>G,NP_001128715.1:p.Glu1456=,25/27,\N,Unknown significance,\N,synonymous_variant,5.356,0.0000865202,EXAC_AMR_AF,TCOF1
686329,5:149777945:G>T,NM_001135243.1:c.4371G>T,NP_001128715.1:p.Lys1457Asn,25/27,\N,Unknown significance,\N,missense_variant,24,0.0000151543,EXAC_NFE_AF,TCOF1
686330,5:149777949:A>G,NM_001135243.1:c.4375A>G,NP_001128715.1:p.Lys1459Glu,25/27,\N,Unknown significance,\N,missense_variant,24.2,0.000226963,EVS_AA_AF,TCOF1
686331,5:149777951:G>A,NM_001135243.1:c.4377G>A,NP_001128715.1:p.Lys1459=,25/27,\N,Unknown significance,\N,synonymous_variant,14.79,\N,\N,TCOF1
686332,5:149777954:A>G,NM_001135243.1:c.4380A>G,NP_001128715.1:p.Lys1460=,25/27,\N,Unknown significance,\N,synonymous_variant,7.788,\N,\N,TCOF1
686333,5:149777955:G>A,NM_001135243.1:c.4381G>A,NP_001128715.1:p.Ala1461Thr,25/27,\N,Likely benign,\N,missense_variant,23.9,\N,\N,TCOF1
686334,5:149777956:C>A,NM_001135243.1:c.4382C>A,NP_001128715.1:p.Ala1461Glu,25/27,\N,Likely benign,\N,missense_variant,24.5,\N,\N,TCOF1
686335,5:149777956:CAA>C,NM_001135243.1:c.4387_4388del,NP_001128715.1:p.Lys1463GlyfsTer7,25/27,\N,Pathogenic,Treacher-Collins syndrome,frameshift_variant,35,\N,\N,TCOF1
686336,5:149777959:A>G,NM_001135243.1:c.4385A>G,NP_001128715.1:p.Lys1462Arg,25/27,\N,Likely benign,\N,missense_variant,22,0.002,1KG_EAS_AF,TCOF1
686337,5:149777963:G>A,NM_001135243.1:c.4389G>A,NP_001128715.1:p.Lys1463=,25/27,\N,Unknown significance,\N,synonymous_variant,13.55,0.002,1KG_SAS_AF,TCOF1
686338,5:149777964:G>C,NM_001135243.1:c.4390G>C,NP_001128715.1:p.Ala1464Pro,25/27,\N,Likely benign,\N,missense_variant,5.838,0.0000864454,EXAC_AMR_AF,TCOF1
686339,5:149777964:G>T,NM_001135243.1:c.4390G>T,NP_001128715.1:p.Ala1464Ser,25/27,\N,Likely benign,\N,missense_variant,5.004,0.000116279,EVS_EA_AF,TCOF1
686340,5:149777971:C>T,NM_001135243.1:c.4397C>T,NP_001128715.1:p.Thr1466Ile,25/27,\N,Unknown significance,\N,missense_variant,24.3,\N,\N,TCOF1
686341,5:149777984:G>A,NM_001135243.1:c.4410G>A,NP_001128715.1:p.Glu1470=,25/27,\N,Unknown significance,\N,synonymous_variant,6.659,0.000232558,EVS_EA_AF,TCOF1
686342,5:149777989:C>T,NM_001135243.1:c.4415C>T,NP_001128715.1:p.Pro1472Leu,25/27,\N,Likely benign,\N,missense_variant,2.889,0.0014,1KG_AMR_AF,TCOF1
686343,5:149777990:G>A,NM_001135243.1:c.4416G>A,NP_001128715.1:p.Pro1472=,25/27,\N,Unknown significance,\N,synonymous_variant,9.774,0.000172771,EXAC_AMR_AF,TCOF1
686344,5:149777994:CAGAAGAAAA>C,NM_001135243.1:c.4432_4440del,NP_001128715.1:p.Lys1480_Lys1482del,25/27,\N,Unknown significance,\N,inframe_deletion,22.1,\N,\N,TCOF1
686345,5:149777994:C>T,NM_001135243.1:c.4420C>T,NP_001128715.1:p.Gln1474Ter,25/27,\N,Pathogenic,Treacher-Collins syndrome,stop_gained,46,\N,\N,TCOF1
686346,5:149777996:G>A,NM_001135243.1:c.4422G>A,NP_001128715.1:p.Gln1474=,25/27,\N,Unknown significance,\N,synonymous_variant,12.14,0.0000605767,EXAC_SAS_AF,TCOF1
686347,5:149777999:G>A,NM_001135243.1:c.4425G>A,NP_001128715.1:p.Lys1475=,25/27,\N,Unknown significance,\N,synonymous_variant,15.54,\N,\N,TCOF1
686348,5:149778004:A>G,NM_001135243.1:c.4430A>G,NP_001128715.1:p.Lys1477Arg,25/27,\N,Likely benign,\N,missense_variant,22.7,0.000116306,EVS_EA_AF,TCOF1
686349,5:149778005:G>A,NM_001135243.1:c.4431G>A,NP_001128715.1:p.Lys1477=,25/27,\N,Unknown significance,\N,synonymous_variant,16.15,\N,\N,TCOF1
686350,5:149778008:G>A,NM_001135243.1:c.4434G>A,NP_001128715.1:p.Lys1478=,25/27,\N,Unknown significance,\N,synonymous_variant,14.41,\N,\N,TCOF1
686351,5:149778018:G>A,NM_001135243.1:c.4440+4G>A,\N,\N,25/26,Unknown significance,\N,splice_region_variant&intron_variant,12.75,0.0000605767,EXAC_SAS_AF,TCOF1
686352,5:149778028:G>A,NM_001135243.1:c.4440+14G>A,\N,\N,25/26,Unknown significance,\N,intron_variant,14.55,0.0014,1KG_AMR_AF,TCOF1
686353,5:149778029:G>C,NM_001135243.1:c.4440+15G>C,\N,\N,25/26,Unknown significance,\N,intron_variant,11.04,0.0000150994,EXAC_NFE_AF,TCOF1
686354,5:149778030:G>A,NM_001135243.1:c.4440+16G>A,\N,\N,25/26,Unknown significance,\N,intron_variant,11.46,0.000115714,EXAC_EAS_AF,TCOF1
686355,5:149778031:G>A,NM_001135243.1:c.4440+17G>A,\N,\N,25/26,Unknown significance,\N,intron_variant,13.58,0.001,1KG_EAS_AF,TCOF1
686356,5:149778035:C>G,NM_001135243.1:c.4440+21C>G,\N,\N,25/26,Unknown significance,\N,intron_variant,12.73,0.0000151016,EXAC_NFE_AF,TCOF1
686357,5:149778044:G>C,NM_001135243.1:c.4440+30G>C,\N,\N,25/26,Unknown significance,\N,intron_variant,9.185,0.0000151085,EXAC_NFE_AF,TCOF1
686358,5:149778048:A>T,NM_001135243.1:c.4440+34A>T,\N,\N,25/26,Unknown significance,\N,intron_variant,7.129,0.000231589,EXAC_EAS_AF,TCOF1
686359,5:149778059:C>T,NM_001135243.1:c.4440+45C>T,\N,\N,25/26,Unknown significance,\N,intron_variant,4.996,0.0000606061,EXAC_SAS_AF,TCOF1
686360,5:149778060:C>T,NM_001135243.1:c.4440+46C>T,\N,\N,25/26,Unknown significance,\N,intron_variant,5.462,0.0000606061,EXAC_SAS_AF,TCOF1
686361,5:149778065:C>T,NM_001135243.1:c.4440+51C>T,\N,\N,25/26,Unknown significance,\N,intron_variant,6.078,0.0000864304,EXAC_AMR_AF,TCOF1
686362,5:149778069:C>T,NM_001135243.1:c.4440+55C>T,\N,\N,25/26,Unknown significance,\N,intron_variant,3.284,\N,\N,TCOF1
686363,5:149778111:C>T,NM_001135243.1:c.4440+97C>T,\N,\N,25/26,Unknown significance,\N,intron_variant,5.309,0.001,1KG_EAS_AF,TCOF1
686364,5:149778119:A>G,NM_001135243.1:c.4440+105A>G,\N,\N,25/26,Unknown significance,\N,intron_variant,0.433,0.001,1KG_SAS_AF,TCOF1
686365,5:149778120:G>T,NM_001135243.1:c.4440+106G>T,\N,\N,25/26,Likely benign,Treacher collins syndrome 1,intron_variant,2.13,\N,\N,TCOF1
686366,5:149778122:C>A,NM_001135243.1:c.4440+108C>A,\N,\N,25/26,Benign,\N,intron_variant,0.475,0.0092,1KG_SAS_AF,TCOF1
686367,5:149778134:G>C,NM_001135243.1:c.4440+120G>C,\N,\N,25/26,Benign,\N,intron_variant,0.138,0.0242,1KG_AFR_AF,TCOF1
686368,5:149778169:A>G,NM_001135243.1:c.4440+155A>G,\N,\N,25/26,Unknown significance,\N,intron_variant,6.162,0.0014,1KG_AMR_AF,TCOF1
686369,5:149778175:C>T,NM_001135243.1:c.4440+161C>T,\N,\N,25/26,Unknown significance,\N,intron_variant,7.716,0.0045,1KG_AFR_AF,TCOF1
686370,5:149778191:C>T,NM_001135243.1:c.4440+177C>T,\N,\N,25/26,Unknown significance,\N,intron_variant,5.888,0.001,1KG_EUR_AF,TCOF1
686371,5:149778208:C>T,NM_001135243.1:c.4440+194C>T,\N,\N,25/26,Unknown significance,\N,intron_variant,8.504,0.001,1KG_SAS_AF,TCOF1
686372,5:149778235:A>G,NM_001135243.1:c.4440+221A>G,\N,\N,25/26,Unknown significance,\N,intron_variant,8.969,0.0014,1KG_AMR_AF,TCOF1
686373,5:149778256:A>AG,NM_001135243.1:c.4440+245dup,\N,\N,25/26,Unknown significance,\N,intron_variant,\N,\N,\N,TCOF1
686374,5:149778273:T>C,NM_001135243.1:c.4440+259T>C,\N,\N,25/26,Unknown significance,\N,intron_variant,5.504,\N,\N,TCOF1
686375,5:149778297:A>T,NM_001135243.1:c.4440+283A>T,\N,\N,25/26,Unknown significance,\N,intron_variant,2.843,\N,\N,TCOF1
686376,5:149778301:G>A,NM_001135243.1:c.4441-284G>A,\N,\N,25/26,Unknown significance,\N,intron_variant,5.881,0.0008,1KG_AFR_AF,TCOF1
686377,5:149778314:C>T,NM_001135243.1:c.4441-271C>T,\N,\N,25/26,Unknown significance,\N,intron_variant,6.824,0.001,1KG_EAS_AF,TCOF1
686378,5:149778328:G>A,NM_001135243.1:c.4441-257G>A,\N,\N,25/26,Unknown significance,\N,intron_variant,3.35,0.0045,1KG_AFR_AF,TCOF1
686379,5:149778337:G>T,NM_001135243.1:c.4441-248G>T,\N,\N,25/26,Unknown significance,\N,intron_variant,0.709,\N,\N,TCOF1
686380,5:149778348:C>T,NM_001135243.1:c.4441-237C>T,\N,\N,25/26,Unknown significance,\N,intron_variant,1.975,0.0014,1KG_AMR_AF,TCOF1
686381,5:149778360:C>T,NM_001135243.1:c.4441-225C>T,\N,\N,25/26,Benign,\N,intron_variant,4.397,0.0179,1KG_EUR_AF,TCOF1
686382,5:149778364:G>C,NM_001135243.1:c.4441-221G>C,\N,\N,25/26,Benign,\N,intron_variant,0.619,0.6237,1KG_SAS_AF,TCOF1
686383,5:149778365:C>T,NM_001135243.1:c.4441-220C>T,\N,\N,25/26,Benign,\N,intron_variant,2.769,0.0532,1KG_SAS_AF,TCOF1
686384,5:149778377:A>G,NM_001135243.1:c.4441-208A>G,\N,\N,25/26,Unknown significance,\N,intron_variant,1.776,\N,\N,TCOF1
686385,5:149778381:C>T,NM_001135243.1:c.4441-204C>T,\N,\N,25/26,Unknown significance,\N,intron_variant,4.515,0.0008,1KG_AFR_AF,TCOF1
686386,5:149778382:A>T,NM_001135243.1:c.4441-203A>T,\N,\N,25/26,Unknown significance,\N,intron_variant,2.608,0.0008,1KG_AFR_AF,TCOF1
686387,5:149778452:G>A,NM_001135243.1:c.4441-133G>A,\N,\N,25/26,Unknown significance,\N,intron_variant,3.042,\N,\N,TCOF1
686388,5:149778453:C>A,NM_001135243.1:c.4441-132C>A,\N,\N,25/26,Benign,\N,intron_variant,7.31,0.1135,1KG_AFR_AF,TCOF1
686389,5:149778460:C>T,NM_001135243.1:c.4441-125C>T,\N,\N,25/26,Unknown significance,\N,intron_variant,7.149,0.001,1KG_SAS_AF,TCOF1
686390,5:149778465:G>A,NM_001135243.1:c.4441-120G>A,\N,\N,25/26,Unknown significance,\N,intron_variant,2.358,0.0031,1KG_SAS_AF,TCOF1
686391,5:149778484:T>C,NM_001135243.1:c.4441-101T>C,\N,\N,25/26,Unknown significance,\N,intron_variant,3.416,0.0014,1KG_AMR_AF,TCOF1
686392,5:149778510:C>T,NM_001135243.1:c.4441-75C>T,\N,\N,25/26,Unknown significance,\N,intron_variant,7.547,\N,\N,TCOF1
686393,5:149778532:T>C,NM_001135243.1:c.4441-53T>C,\N,\N,25/26,Unknown significance,\N,intron_variant,9.331,\N,\N,TCOF1
686394,5:149778535:G>T,NM_001135243.1:c.4441-50G>T,\N,\N,25/26,Unknown significance,\N,intron_variant,11.5,0.0000300075,EXAC_NFE_AF,TCOF1
686395,5:149778537:G>A,NM_001135243.1:c.4441-48G>A,\N,\N,25/26,Unknown significance,\N,intron_variant,10.71,0.0000865202,EXAC_AMR_AF,TCOF1
686396,5:149778539:G>A,NM_001135243.1:c.4441-46G>A,\N,\N,25/26,Unknown significance,\N,intron_variant,10.8,0.000116279,EVS_EA_AF,TCOF1
686397,5:149778541:A>G,NM_001135243.1:c.4441-44A>G,\N,\N,25/26,Unknown significance,\N,intron_variant,9.494,0.0008,1KG_AFR_AF,TCOF1
686398,5:149778549:C>T,NM_001135243.1:c.4441-36C>T,\N,\N,25/26,Benign,\N,intron_variant,11.56,0.0058,1KG_AMR_AF,TCOF1
686399,5:149778555:T>C,NM_001135243.1:c.4441-30T>C,\N,\N,25/26,Unknown significance,\N,intron_variant,8.563,0.0000299967,EXAC_NFE_AF,TCOF1
686400,5:149778559:A>G,NM_001135243.1:c.4441-26A>G,\N,\N,25/26,Unknown significance,\N,intron_variant,9.179,0.0000149957,EXAC_NFE_AF,TCOF1
686401,5:149778563:T>C,NM_001135243.1:c.4441-22T>C,\N,\N,25/26,Unknown significance,\N,intron_variant,6.762,0.0000149934,EXAC_NFE_AF,TCOF1
686402,5:149778565:T>A,NM_001135243.1:c.4441-20T>A,\N,\N,25/26,Unknown significance,\N,intron_variant,10.12,\N,\N,TCOF1
686403,5:149778566:C>T,NM_001135243.1:c.4441-19C>T,\N,\N,25/26,Unknown significance,\N,intron_variant,11.55,\N,\N,TCOF1
686404,5:149778567:G>A,NM_001135243.1:c.4441-18G>A,\N,\N,25/26,Benign,\N,intron_variant,8.656,0.0175492,EXAC_FIN_AF,TCOF1
686405,5:149778582:CAGA>C,NM_001135243.1:c.4445_4447del,NP_001128715.1:p.Lys1482del,26/27,25/26,Unknown significance,\N,splice_acceptor_variant&coding_sequence_variant,36,0.0000149898,EXAC_NFE_AF,TCOF1
686406,5:149778592:C>T,NM_001135243.1:c.4448C>T,NP_001128715.1:p.Thr1483Ile,26/27,\N,Unknown significance,\N,missense_variant,23.6,0.000302389,EXAC_FIN_AF,TCOF1
686407,5:149778593:A>G,NM_001135243.1:c.4449A>G,NP_001128715.1:p.Thr1483=,26/27,\N,Unknown significance,\N,synonymous_variant,6.395,\N,\N,TCOF1
686408,5:149778599:G>A,NM_001135243.1:c.4455G>A,NP_001128715.1:p.Glu1485=,26/27,\N,Benign,\N,synonymous_variant,10.1,0.031,1KG_AFR_AF,TCOF1
686409,5:149778612:C>T,NM_001135243.1:c.*1C>T,\N,26/27,\N,Benign,\N,3_prime_UTR_variant,6.904,0.0106673,EVS_AA_AF,TCOF1
686410,5:149778613:G>A,NM_001135243.1:c.*2G>A,\N,26/27,\N,Unknown significance,\N,3_prime_UTR_variant,7.194,0.001,1KG_EAS_AF,TCOF1
686411,5:149778638:G>A,NM_001135243.1:c.*22+5G>A,\N,\N,26/26,Unknown significance,\N,splice_region_variant&intron_variant,5.518,0.000115554,EXAC_EAS_AF,TCOF1
686412,5:149778639:C>T,NM_001135243.1:c.*22+6C>T,\N,\N,26/26,Unknown significance,\N,splice_region_variant&intron_variant,5.962,0.000060562,EXAC_SAS_AF,TCOF1
686413,5:149778646:A>G,NM_001135243.1:c.*22+13A>G,\N,\N,26/26,Unknown significance,\N,intron_variant,3.696,0.0000864304,EXAC_AMR_AF,TCOF1
686414,5:149778659:A>G,NM_001135243.1:c.*22+26A>G,\N,\N,26/26,Benign,\N,intron_variant,6.435,0.0817,1KG_AFR_AF,TCOF1
686415,5:149778662:C>G,NM_001135243.1:c.*22+29C>G,\N,\N,26/26,Unknown significance,\N,intron_variant,5.54,0.0000606061,EXAC_SAS_AF,TCOF1
686416,5:149778664:G>T,NM_001135243.1:c.*22+31G>T,\N,\N,26/26,Unknown significance,\N,intron_variant,1.762,0.002,1KG_EAS_AF,TCOF1
686417,5:149778683:G>T,NM_001135243.1:c.*22+50G>T,\N,\N,26/26,Unknown significance,\N,intron_variant,4.248,\N,\N,TCOF1
686418,5:149778686:T>A,NM_001135243.1:c.*22+53T>A,\N,\N,26/26,Unknown significance,\N,intron_variant,3.222,0.003,1KG_EAS_AF,TCOF1
686419,5:149778687:C>A,NM_001135243.1:c.*22+54C>A,\N,\N,26/26,Unknown significance,\N,intron_variant,6.43,0.003,1KG_EAS_AF,TCOF1
686420,5:149778692:G>C,NM_001135243.1:c.*22+59G>C,\N,\N,26/26,Unknown significance,\N,intron_variant,2.267,\N,\N,TCOF1
686421,5:149778707:C>T,NM_001135243.1:c.*22+74C>T,\N,\N,26/26,Unknown significance,\N,intron_variant,7.383,0.0029,1KG_AMR_AF,TCOF1
686422,5:149778711:C>T,NM_001135243.1:c.*22+78C>T,\N,\N,26/26,Unknown significance,\N,intron_variant,7.557,\N,\N,TCOF1
686423,5:149778720:T>A,NM_001135243.1:c.*22+87T>A,\N,\N,26/26,Unknown significance,\N,intron_variant,6.41,0.002,1KG_EAS_AF|1KG_SAS_AF,TCOF1
686424,5:149778720:T>C,NM_001135243.1:c.*22+87T>C,\N,\N,26/26,Unknown significance,\N,intron_variant,2.691,\N,\N,TCOF1
686425,5:149778722:G>C,NM_001135243.1:c.*22+89G>C,\N,\N,26/26,Unknown significance,\N,intron_variant,0.889,\N,\N,TCOF1
686426,5:149778747:TG>T,NM_001135243.1:c.*22+118del,\N,\N,26/26,Benign,\N,intron_variant,5.666,0.0318,1KG_AFR_AF,TCOF1
686427,5:149778761:C>T,NM_001135243.1:c.*22+128C>T,\N,\N,26/26,Unknown significance,\N,intron_variant,4.55,0.0008,1KG_AFR_AF,TCOF1
686428,5:149778789:G>C,NM_001135243.1:c.*22+156G>C,\N,\N,26/26,Unknown significance,\N,intron_variant,0.279,\N,\N,TCOF1
686429,5:149778828:C>T,NM_001135243.1:c.*22+195C>T,\N,\N,26/26,Unknown significance,\N,intron_variant,7.217,0.002,1KG_EUR_AF,TCOF1
686430,5:149778828:CCAGAA>C,NM_001135243.1:c.*22+199_*22+203del,\N,\N,26/26,Unknown significance,\N,intron_variant,8.845,\N,\N,TCOF1
686431,5:149778837:T>C,NM_001135243.1:c.*22+204T>C,\N,\N,26/26,Benign,\N,intron_variant,3.268,0.0204,1KG_AFR_AF,TCOF1
686432,5:149778848:G>A,NM_001135243.1:c.*22+215G>A,\N,\N,26/26,Unknown significance,\N,intron_variant,1.801,0.003,1KG_AFR_AF,TCOF1
686433,5:149778855:C>T,NM_001135243.1:c.*22+222C>T,\N,\N,26/26,Unknown significance,\N,intron_variant,0.213,\N,\N,TCOF1
686434,5:149778873:G>A,NM_001135243.1:c.*22+240G>A,\N,\N,26/26,Unknown significance,\N,intron_variant,2.147,0.001,1KG_EAS_AF,TCOF1
686435,5:149778883:A>G,NM_001135243.1:c.*22+250A>G,\N,\N,26/26,Benign,\N,intron_variant,0.077,0.0363,1KG_AFR_AF,TCOF1
686436,5:149778892:G>A,NM_001135243.1:c.*22+259G>A,\N,\N,26/26,Unknown significance,\N,intron_variant,5.275,0.0014,1KG_AMR_AF,TCOF1
686437,5:149778916:G>A,NM_001135243.1:c.*22+283G>A,\N,\N,26/26,Unknown significance,\N,intron_variant,1.518,\N,\N,TCOF1
686438,5:149778931:C>T,NM_001135243.1:c.*22+298C>T,\N,\N,26/26,Unknown significance,\N,intron_variant,0.39,0.003,1KG_AFR_AF,TCOF1
686439,5:149778932:G>T,NM_001135243.1:c.*22+299G>T,\N,\N,26/26,Unknown significance,\N,intron_variant,1.294,0.001,1KG_SAS_AF,TCOF1
686440,5:149778956:C>T,NM_001135243.1:c.*22+323C>T,\N,\N,26/26,Unknown significance,\N,intron_variant,1.623,0.004,1KG_EAS_AF,TCOF1
686441,5:149778964:C>T,NM_001135243.1:c.*22+331C>T,\N,\N,26/26,Unknown significance,\N,intron_variant,3.737,0.001,1KG_SAS_AF,TCOF1
686442,5:149778965:G>A,NM_001135243.1:c.*22+332G>A,\N,\N,26/26,Unknown significance,\N,intron_variant,3.011,0.0008,1KG_AFR_AF,TCOF1
686443,5:149779030:C>T,NM_001135243.1:c.*23-343C>T,\N,\N,26/26,Benign,\N,intron_variant,1.778,0.1089,1KG_AFR_AF,TCOF1
686444,5:149779039:C>G,NM_001135243.1:c.*23-334C>G,\N,\N,26/26,Unknown significance,\N,intron_variant,5.333,0.001,1KG_SAS_AF,TCOF1
686445,5:149779041:A>C,NM_001135243.1:c.*23-332A>C,\N,\N,26/26,Unknown significance,\N,intron_variant,1.339,\N,\N,TCOF1
686446,5:149779047:A>G,NM_001135243.1:c.*23-326A>G,\N,\N,26/26,Unknown significance,\N,intron_variant,1.483,0.002,1KG_EAS_AF,TCOF1
686447,5:149779061:C>T,NM_001135243.1:c.*23-312C>T,\N,\N,26/26,Unknown significance,\N,intron_variant,4.964,\N,\N,TCOF1
686448,5:149779065:A>G,NM_001135243.1:c.*23-308A>G,\N,\N,26/26,Benign,\N,intron_variant,4.443,0.0068,1KG_AFR_AF,TCOF1
686449,5:149779073:C>A,NM_001135243.1:c.*23-300C>A,\N,\N,26/26,Unknown significance,\N,intron_variant,12.76,0.0008,1KG_AFR_AF,TCOF1
686450,5:149779085:A>T,NM_001135243.1:c.*23-288A>T,\N,\N,26/26,Unknown significance,\N,intron_variant,12.62,0.0008,1KG_AFR_AF,TCOF1
686451,5:149779092:G>C,NM_001135243.1:c.*23-281G>C,\N,\N,26/26,Unknown significance,\N,intron_variant,13.81,\N,\N,TCOF1
686452,5:149779094:G>A,NM_001135243.1:c.*23-279G>A,\N,\N,26/26,Unknown significance,\N,intron_variant,14.83,\N,\N,TCOF1
686453,5:149779106:C>G,NM_001135243.1:c.*23-267C>G,\N,\N,26/26,Unknown significance,\N,intron_variant,9.299,0.001,1KG_EUR_AF,TCOF1
686454,5:149779126:C>T,NM_001135243.1:c.*23-247C>T,\N,\N,26/26,Unknown significance,\N,intron_variant,4.873,0.0015,1KG_AFR_AF,TCOF1
686455,5:149779127:C>T,NM_001135243.1:c.*23-246C>T,\N,\N,26/26,Unknown significance,\N,intron_variant,5.869,\N,\N,TCOF1
686456,5:149779133:T>C,NM_001135243.1:c.*23-240T>C,\N,\N,26/26,Unknown significance,\N,intron_variant,6.004,0.0008,1KG_AFR_AF,TCOF1
686457,5:149779140:G>A,NM_001135243.1:c.*23-233G>A,\N,\N,26/26,Unknown significance,\N,intron_variant,5.277,0.0008,1KG_AFR_AF,TCOF1
686458,5:149779142:C>T,NM_001135243.1:c.*23-231C>T,\N,\N,26/26,Benign,\N,intron_variant,7.596,0.0616,1KG_EUR_AF,TCOF1
686459,5:149779147:G>A,NM_001135243.1:c.*23-226G>A,\N,\N,26/26,Unknown significance,\N,intron_variant,3.169,\N,\N,TCOF1
686460,5:149779158:T>C,NM_001135243.1:c.*23-215T>C,\N,\N,26/26,Unknown significance,\N,intron_variant,0.579,\N,\N,TCOF1
686461,5:149779193:C>A,NM_001135243.1:c.*23-180C>A,\N,\N,26/26,Benign,\N,intron_variant,3.651,0.0298,1KG_EUR_AF,TCOF1
686462,5:149779228:G>T,NM_001135243.1:c.*23-145G>T,\N,\N,26/26,Unknown significance,\N,intron_variant,3,0.0008,1KG_AFR_AF,TCOF1
686463,5:149779245:T>C,NM_001135243.1:c.*23-128T>C,\N,\N,26/26,Unknown significance,\N,intron_variant,1.751,\N,\N,TCOF1
686464,5:149779257:A>G,NM_001135243.1:c.*23-116A>G,\N,\N,26/26,Unknown significance,\N,intron_variant,1.881,0.001,1KG_EUR_AF,TCOF1
686465,5:149779268:CT>C,NM_001135243.1:c.*23-104del,\N,\N,26/26,Unknown significance,\N,intron_variant,\N,\N,\N,TCOF1
686466,5:149779283:C>G,NM_001135243.1:c.*23-90C>G,\N,\N,26/26,Unknown significance,\N,intron_variant,4.415,0.001,1KG_EUR_AF,TCOF1
686467,5:149779301:G>A,NM_001135243.1:c.*23-72G>A,\N,\N,26/26,Unknown significance,\N,intron_variant,6.66,\N,\N,TCOF1
686468,5:149779313:T>A,NM_001135243.1:c.*23-60T>A,\N,\N,26/26,Unknown significance,\N,intron_variant,8.645,\N,\N,TCOF1
686469,5:149779333:G>A,NM_001135243.1:c.*23-40G>A,\N,\N,26/26,Unknown significance,\N,intron_variant,6.59,\N,\N,TCOF1
686470,5:149779356:G>A,NM_001135243.1:c.*23-17G>A,\N,\N,26/26,Unknown significance,\N,intron_variant,10.07,0.001,1KG_EAS_AF,TCOF1
686471,5:149779363:C>T,NM_001135243.1:c.*23-10C>T,\N,\N,26/26,Benign,\N,intron_variant,14.15,0.0517,1KG_EUR_AF,TCOF1
686472,5:149779368:C>T,NM_001135243.1:c.*23-5C>T,\N,\N,26/26,Unknown significance,\N,splice_region_variant&intron_variant,14.53,\N,\N,TCOF1
686473,5:149779386:G>A,NM_001135243.1:c.*36G>A,\N,27/27,\N,Unknown significance,\N,3_prime_UTR_variant,1.85,0.0014,1KG_AMR_AF,TCOF1
686474,5:149779408:T>G,NM_001135243.1:c.*58T>G,\N,27/27,\N,Unknown significance,\N,3_prime_UTR_variant,12.95,0.0038,1KG_AFR_AF,TCOF1
686475,5:149779420:C>T,NM_001135243.1:c.*70C>T,\N,27/27,\N,Benign,\N,3_prime_UTR_variant,0.639,0.005,1KG_EUR_AF,TCOF1
686476,5:149779421:G>A,NM_001135243.1:c.*71G>A,\N,27/27,\N,Benign,\N,3_prime_UTR_variant,2.369,0.0102,1KG_SAS_AF,TCOF1
686477,5:149779491:T>G,NM_001135243.1:c.*141T>G,\N,27/27,\N,Benign,\N,3_prime_UTR_variant,5.859,0.0212,1KG_AFR_AF,TCOF1
686478,5:149779534:G>C,NM_001135243.1:c.*184G>C,\N,27/27,\N,Unknown significance,\N,3_prime_UTR_variant,2.97,\N,\N,TCOF1
686479,5:149779587:A>C,NM_001135243.1:c.*237A>C,\N,27/27,\N,Unknown significance,\N,3_prime_UTR_variant,1.605,0.0008,1KG_AFR_AF,TCOF1
686480,5:149779591:A>G,NM_001135243.1:c.*241A>G,\N,27/27,\N,Benign,\N,3_prime_UTR_variant,0.87,0.0212,1KG_AFR_AF,TCOF1
686481,5:149779595:C>T,NM_001135243.1:c.*245C>T,\N,27/27,\N,Unknown significance,\N,3_prime_UTR_variant,8.88,\N,\N,TCOF1
686482,5:149779617:T>A,NM_001135243.1:c.*267T>A,\N,27/27,\N,Unknown significance,\N,3_prime_UTR_variant,17.93,0.0008,1KG_AFR_AF,TCOF1
686483,5:149779658:C>G,NM_001135243.1:c.*308C>G,\N,27/27,\N,Unknown significance,\N,3_prime_UTR_variant,4.357,0.0014,1KG_AMR_AF,TCOF1
686484,5:149779679:G>A,NM_001135243.1:c.*329G>A,\N,27/27,\N,Unknown significance,\N,3_prime_UTR_variant,6.823,\N,\N,TCOF1
686485,5:149779692:C>T,NM_001135243.1:c.*342C>T,\N,27/27,\N,Unknown significance,\N,3_prime_UTR_variant,8.418,\N,\N,TCOF1
686486,5:149779710:G>C,NM_001135243.1:c.*360G>C,\N,27/27,\N,Unknown significance,\N,3_prime_UTR_variant,11.31,0.0015,1KG_AFR_AF,TCOF1
686487,5:149779722:C>G,NM_001135243.1:c.*372C>G,\N,27/27,\N,Unknown significance,\N,3_prime_UTR_variant,10.9,\N,\N,TCOF1
686488,5:149779724:G>A,NM_001135243.1:c.*374G>A,\N,27/27,\N,Unknown significance,\N,3_prime_UTR_variant,9.364,\N,\N,TCOF1
686489,5:149779726:G>T,NM_001135243.1:c.*376G>T,\N,27/27,\N,Unknown significance,\N,3_prime_UTR_variant,5.089,0.0014,1KG_AMR_AF,TCOF1
686490,5:149779735:C>T,NM_001135243.1:c.*385C>T,\N,27/27,\N,Unknown significance,\N,3_prime_UTR_variant,8.56,\N,\N,TCOF1
686491,5:149779736:G>A,NM_001135243.1:c.*386G>A,\N,27/27,\N,Unknown significance,\N,3_prime_UTR_variant,0.11,\N,\N,TCOF1
686492,5:149779738:G>A,NM_001135243.1:c.*388G>A,\N,27/27,\N,Unknown significance,\N,3_prime_UTR_variant,6.112,\N,\N,TCOF1
686493,5:149779740:C>T,NM_001135243.1:c.*390C>T,\N,27/27,\N,Benign,\N,3_prime_UTR_variant,8.572,0.0317,1KG_SAS_AF,TCOF1
686494,5:149779741:G>A,NM_001135243.1:c.*391G>A,\N,27/27,\N,Unknown significance,\N,3_prime_UTR_variant,1.943,0.003,1KG_AFR_AF,TCOF1
686495,5:149779780:C>T,NM_001135243.1:c.*430C>T,\N,27/27,\N,Benign,\N,3_prime_UTR_variant,7.742,0.006,1KG_EUR_AF,TCOF1
686496,5:149779805:T>G,NM_001135243.1:c.*455T>G,\N,27/27,\N,Unknown significance,\N,3_prime_UTR_variant,1.791,\N,\N,TCOF1
686497,5:149779806:G>GT,NM_001135243.1:c.*466dup,\N,27/27,\N,Benign,\N,3_prime_UTR_variant,3.715,0.122,1KG_EAS_AF,TCOF1
686498,5:149779806:G>T,NM_001135243.1:c.*456G>T,\N,27/27,\N,Unknown significance,\N,3_prime_UTR_variant,0.569,\N,\N,TCOF1
686499,5:149779830:AAAAAT>A,NM_001135243.1:c.*485_*489del,\N,27/27,\N,Unknown significance,\N,3_prime_UTR_variant,\N,\N,\N,TCOF1
686500,5:149779849:G>T,NM_001135243.1:c.*499G>T,\N,27/27,\N,Unknown significance,\N,3_prime_UTR_variant,1.357,0.001,1KG_SAS_AF,TCOF1
686501,5:149779857:C>T,NM_001135243.1:c.*507C>T,\N,27/27,\N,Unknown significance,\N,3_prime_UTR_variant,5.762,\N,\N,TCOF