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
483005,20:57875505:C>G,NM_207034.2:c.-363C>G,\N,1/5,\N,Unknown significance,\N,5_prime_UTR_variant,14.57,0.0008,1KG_AFR_AF,EDN3
483006,20:57875554:G>T,NM_207034.2:c.-314G>T,\N,1/5,\N,Unknown significance,\N,5_prime_UTR_variant,15.82,\N,\N,EDN3
483007,20:57875576:G>A,NM_207034.2:c.-292G>A,\N,1/5,\N,Unknown significance,\N,5_prime_UTR_variant,9.94,0.001,1KG_EUR_AF,EDN3
483008,20:57875603:G>C,NM_207034.2:c.-265G>C,\N,1/5,\N,Unknown significance,\N,5_prime_UTR_variant,15.3,0.0008,1KG_AFR_AF,EDN3
483009,20:57875620:G>A,NM_207034.2:c.-248G>A,\N,1/5,\N,Benign,\N,5_prime_UTR_variant,17.19,0.0164,1KG_SAS_AF,EDN3
483010,20:57875655:C>T,NM_207034.2:c.-213C>T,\N,1/5,\N,Unknown significance,\N,5_prime_UTR_variant,17.19,\N,\N,EDN3
483011,20:57875656:G>C,NM_207034.2:c.-212G>C,\N,1/5,\N,Unknown significance,\N,5_prime_UTR_variant,12.96,0.001,1KG_EUR_AF,EDN3
483012,20:57875675:T>G,NM_207034.2:c.-193T>G,\N,1/5,\N,Unknown significance,\N,5_prime_UTR_variant,15.85,\N,\N,EDN3
483013,20:57875676:G>C,NM_207034.2:c.-192G>C,\N,1/5,\N,Unknown significance,\N,5_prime_UTR_variant,13.68,0.001,1KG_EAS_AF,EDN3
483014,20:57875683:G>T,NM_207034.2:c.-185G>T,\N,1/5,\N,Unknown significance,\N,5_prime_UTR_variant,14.92,\N,\N,EDN3
483015,20:57875704:G>A,NM_207034.2:c.-164G>A,\N,1/5,\N,Unknown significance,\N,5_prime_UTR_variant,13.18,\N,\N,EDN3
483016,20:57875705:C>T,NM_207034.2:c.-163C>T,\N,1/5,\N,Unknown significance,\N,5_prime_UTR_variant,13.18,0.0008,1KG_AFR_AF,EDN3
483017,20:57875722:C>A,NM_207034.2:c.-146C>A,\N,1/5,\N,Unknown significance,\N,5_prime_UTR_variant,10.94,\N,\N,EDN3
483018,20:57875743:G>A,NM_207034.2:c.-125G>A,\N,1/5,\N,Pathogenic,Hirschsprung disease,5_prime_UTR_variant,6.424,\N,\N,EDN3
483019,20:57875745:G>A,NM_207034.2:c.-123G>A,\N,1/5,\N,Unknown significance,\N,5_prime_UTR_variant,3.196,0.0008,1KG_AFR_AF,EDN3
483020,20:57875782:G>A,NM_207034.2:c.-86G>A,\N,1/5,\N,Unknown significance,\N,5_prime_UTR_variant,9.646,\N,\N,EDN3
483021,20:57875791:T>A,NM_207034.2:c.-77T>A,\N,1/5,\N,Benign,\N,5_prime_UTR_variant,7.654,0.0605,1KG_AMR_AF,EDN3
483022,20:57875807:C>T,NM_207034.2:c.-61C>T,\N,1/5,\N,Unknown significance,\N,5_prime_UTR_variant,13.09,0.0008,1KG_AFR_AF,EDN3
483023,20:57875810:T>C,NM_207034.2:c.-58T>C,\N,1/5,\N,Unknown significance,\N,5_prime_UTR_variant,10.71,\N,\N,EDN3
483024,20:57875824:C>T,NM_207034.2:c.-44C>T,\N,1/5,\N,Unknown significance,\N,5_prime_UTR_variant,7.948,0.00175916,EXAC_SAS_AF,EDN3
483025,20:57875827:C>A,NM_207034.2:c.-41C>A,\N,1/5,\N,Unknown significance,\N,5_prime_UTR_variant,8.539,0.0000795418,EXAC_SAS_AF,EDN3
483026,20:57875827:C>G,NM_207034.2:c.-41C>G,\N,1/5,\N,Unknown significance,\N,5_prime_UTR_variant,6.408,0.000117371,EVS_EA_AF,EDN3
483027,20:57875827:C>T,NM_207034.2:c.-41C>T,\N,1/5,\N,Unknown significance,\N,5_prime_UTR_variant,8.428,0,EXAC_ALL_AF|EXAC_AFR_AF|EXAC_AMR_AF|EXAC_EAS_AF|EXAC_FIN_AF|EXAC_NFE_AF|EXAC_OTH_AF|EXAC_SAS_AF,EDN3
483028,20:57875828:C>T,NM_207034.2:c.-40C>T,\N,1/5,\N,Unknown significance,\N,5_prime_UTR_variant,9.482,0.0000515119,EXAC_NFE_AF,EDN3
483029,20:57875834:C>A,NM_207034.2:c.-34C>A,\N,1/5,\N,Unknown significance,\N,5_prime_UTR_variant,6.77,0.0000788271,EXAC_SAS_AF,EDN3
483030,20:57875834:C>T,NM_207034.2:c.-34C>T,\N,1/5,\N,Unknown significance,\N,5_prime_UTR_variant,6.383,0.0000507563,EXAC_NFE_AF,EDN3
483031,20:57875837:G>T,NM_207034.2:c.-31G>T,\N,1/5,\N,Unknown significance,\N,5_prime_UTR_variant,3.374,0.001,1KG_EUR_AF,EDN3
483032,20:57875845:G>A,NM_207034.2:c.-23G>A,\N,1/5,\N,Unknown significance,\N,5_prime_UTR_variant,8.173,0.0000481278,EXAC_NFE_AF,EDN3
483033,20:57875849:C>A,NM_207034.2:c.-19C>A,\N,1/5,\N,Benign*,\N,5_prime_UTR_variant,20.4,0.0056338,EXAC_EAS_AF,EDN3
483034,20:57875850:G>A,NM_207034.2:c.-18G>A,\N,1/5,\N,Unknown significance,\N,5_prime_UTR_variant,16.91,0.000303398,EXAC_SAS_AF,EDN3
483035,20:57875852:C>G,NM_207034.2:c.-16C>G,\N,1/5,\N,Unknown significance,\N,5_prime_UTR_variant,19.24,0.0000227614,EXAC_NFE_AF,EDN3
483036,20:57875853:G>C,NM_207034.2:c.-15G>C,\N,1/5,\N,Unknown significance,\N,5_prime_UTR_variant,16.51,0.0000746157,EXAC_SAS_AF,EDN3
483037,20:57875855:C>G,NM_207034.2:c.-13C>G,\N,1/5,\N,Unknown significance,\N,5_prime_UTR_variant,17.98,0.000170068,EXAC_AFR_AF,EDN3
483038,20:57875862:A>G,NM_207034.2:c.-6A>G,\N,1/5,\N,Unknown significance,\N,5_prime_UTR_variant,15.86,0.000071144,EXAC_SAS_AF,EDN3
483039,20:57875863:G>A,NM_207034.2:c.-5G>A,\N,1/5,\N,Unknown significance,\N,5_prime_UTR_variant,18.4,\N,\N,EDN3
483040,20:57875877:G>A,NM_207034.2:c.10G>A,NP_996917.1:p.Gly4Arg,1/5,\N,Unknown significance,\N,missense_variant,22.6,0.001,1KG_EAS_AF,EDN3
483041,20:57875878:G>C,NM_207034.2:c.11G>C,NP_996917.1:p.Gly4Ala,1/5,\N,Unknown significance,\N,missense_variant,24.2,0.00115942,EXAC_AFR_AF,EDN3
483042,20:57875886:C>T,NM_207034.2:c.19C>T,NP_996917.1:p.Leu7Phe,1/5,\N,Likely benign,\N,missense_variant,18.55,0.000018197,EXAC_NFE_AF,EDN3
483043,20:57875891:T>G,NM_207034.2:c.24T>G,NP_996917.1:p.Leu8=,1/5,\N,Unknown significance,\N,synonymous_variant,9.917,0.000389105,EXAC_EAS_AF,EDN3
483044,20:57875899:T>G,NM_207034.2:c.32T>G,NP_996917.1:p.Leu11Arg,1/5,\N,Unknown significance,\N,missense_variant,28.2,0.000229358,EXAC_FIN_AF,EDN3
483045,20:57875902:C>T,NM_207034.2:c.35C>T,NP_996917.1:p.Thr12Ile,1/5,\N,Unknown significance,\N,missense_variant,25.3,0.000384221,EXAC_EAS_AF,EDN3
483046,20:57875909:C>T,NM_207034.2:c.42C>T,NP_996917.1:p.Thr14=,1/5,\N,Unknown significance,\N,synonymous_variant,15.4,\N,\N,EDN3
483047,20:57875910:T>G,NM_207034.2:c.43T>G,NP_996917.1:p.Ser15Ala,1/5,\N,Likely benign,\N,missense_variant,17.01,0.000116822,EVS_EA_AF,EDN3
483048,20:57875915:C>T,NM_207034.2:c.48C>T,NP_996917.1:p.Ala16=,1/5,\N,Unknown significance,\N,synonymous_variant,21.5,0.0008,1KG_AFR_AF,EDN3
483049,20:57875916:G>A,NM_207034.2:c.49G>A,NP_996917.1:p.Ala17Thr,1/5,\N,Benign*,\N,missense_variant,25.7,0.0238771,EXAC_EAS_AF,EDN3
483050,20:57875916:G>T,NM_207034.2:c.49G>T,NP_996917.1:p.Ala17Ser,1/5,\N,Unknown significance,\N,missense_variant,28.8,0.000141044,EXAC_AFR_AF,EDN3
483051,20:57875919:G>A,NM_207034.2:c.52G>A,NP_996917.1:p.Gly18Arg,1/5,\N,Unknown significance,\N,missense_variant&splice_region_variant,29.9,\N,\N,EDN3
483052,20:57875926:G>A,NM_207034.2:c.52+7G>A,\N,\N,1/4,Unknown significance,\N,splice_region_variant&intron_variant,14.97,\N,\N,EDN3
483053,20:57875926:G>T,NM_207034.2:c.52+7G>T,\N,\N,1/4,Unknown significance,\N,splice_region_variant&intron_variant,14.4,\N,\N,EDN3
483054,20:57875928:A>G,NM_207034.2:c.52+9A>G,\N,\N,1/4,Unknown significance,\N,intron_variant,10.07,0.001,1KG_SAS_AF,EDN3
483055,20:57875930:G>C,NM_207034.2:c.52+11G>C,\N,\N,1/4,Unknown significance,\N,intron_variant,12.54,0.0000967867,EXAC_AMR_AF,EDN3
483056,20:57875930:G>T,NM_207034.2:c.52+11G>T,\N,\N,1/4,Unknown significance,\N,intron_variant,13.05,0.000055143,EXAC_NFE_AF,EDN3
483057,20:57875934:C>T,NM_207034.2:c.52+15C>T,\N,\N,1/4,Unknown significance,\N,intron_variant,17.03,0.0000184311,EXAC_NFE_AF,EDN3
483058,20:57875942:C>G,NM_207034.2:c.52+23C>G,\N,\N,1/4,Unknown significance,\N,intron_variant,16.75,0.0000658415,EXAC_SAS_AF,EDN3
483059,20:57875948:T>C,NM_207034.2:c.52+29T>C,\N,\N,1/4,Unknown significance,\N,intron_variant,15.45,0.0000661551,EXAC_SAS_AF,EDN3
483060,20:57875951:C>A,NM_207034.2:c.52+32C>A,\N,\N,1/4,Unknown significance,\N,intron_variant,20.1,0.000113679,EXAC_NFE_AF,EDN3
483061,20:57875954:G>A,NM_207034.2:c.52+35G>A,\N,\N,1/4,Unknown significance,\N,intron_variant,17.19,0.0000665336,EXAC_SAS_AF,EDN3
483062,20:57875961:C>T,NM_207034.2:c.52+42C>T,\N,\N,1/4,Unknown significance,\N,intron_variant,20.3,0.001,1KG_SAS_AF,EDN3
483063,20:57875967:A>G,NM_207034.2:c.52+48A>G,\N,\N,1/4,Unknown significance,\N,intron_variant,15.96,0.000145222,EXAC_EAS_AF,EDN3
483064,20:57876004:G>A,NM_207034.2:c.52+85G>A,\N,\N,1/4,Unknown significance,\N,intron_variant,6.926,0.003,1KG_AFR_AF,EDN3
483065,20:57876029:C>G,NM_207034.2:c.52+110C>G,\N,\N,1/4,Unknown significance,\N,intron_variant,7.526,\N,\N,EDN3
483066,20:57876043:TC>T,NM_207034.2:c.52+125del,\N,\N,1/4,Unknown significance,\N,intron_variant,8.971,0.003,1KG_EAS_AF,EDN3
483067,20:57876044:C>T,NM_207034.2:c.52+125C>T,\N,\N,1/4,Benign,\N,intron_variant,11.28,0.1384,1KG_AFR_AF,EDN3
483068,20:57876069:G>A,NM_207034.2:c.52+150G>A,\N,\N,1/4,Unknown significance,\N,intron_variant,11.81,0.0008,1KG_AFR_AF,EDN3
483069,20:57876089:A>AC,NM_207034.2:c.52+171dup,\N,\N,1/4,Unknown significance,\N,intron_variant,5.546,\N,\N,EDN3
483070,20:57876112:G>T,NM_207034.2:c.52+193G>T,\N,\N,1/4,Unknown significance,\N,intron_variant,7.867,0.001,1KG_EAS_AF,EDN3
483071,20:57876122:C>CCG,NM_207034.2:c.52+207_52+208dup,\N,\N,1/4,Unknown significance,\N,intron_variant,7.56,\N,\N,EDN3
483072,20:57876144:C>A,NM_207034.2:c.52+225C>A,\N,\N,1/4,Unknown significance,\N,intron_variant,4.962,0.001,1KG_EUR_AF,EDN3
483073,20:57876145:T>G,NM_207034.2:c.52+226T>G,\N,\N,1/4,Unknown significance,\N,intron_variant,5.549,0.001,1KG_EUR_AF,EDN3
483074,20:57876155:G>A,NM_207034.2:c.52+236G>A,\N,\N,1/4,Benign,\N,intron_variant,6.624,0.2795,1KG_AMR_AF,EDN3
483075,20:57876207:A>C,NM_207034.2:c.53-258A>C,\N,\N,1/4,Unknown significance,\N,intron_variant,6.28,0,1KG_ALL_AF|1KG_AFR_AF|1KG_AMR_AF|1KG_EAS_AF|1KG_EUR_AF|1KG_SAS_AF,EDN3
483076,20:57876226:C>A,NM_207034.2:c.53-239C>A,\N,\N,1/4,Unknown significance,\N,intron_variant,4.634,0.001,1KG_SAS_AF,EDN3
483077,20:57876240:G>T,NM_207034.2:c.53-225G>T,\N,\N,1/4,Benign,\N,intron_variant,3.622,0.3139,1KG_AFR_AF,EDN3
483078,20:57876245:A>G,NM_207034.2:c.53-220A>G,\N,\N,1/4,Unknown significance,\N,intron_variant,5.801,\N,\N,EDN3
483079,20:57876275:G>T,NM_207034.2:c.53-190G>T,\N,\N,1/4,Unknown significance,\N,intron_variant,2.566,\N,\N,EDN3
483080,20:57876282:G>A,NM_207034.2:c.53-183G>A,\N,\N,1/4,Unknown significance,\N,intron_variant,5.884,\N,\N,EDN3
483081,20:57876284:T>C,NM_207034.2:c.53-181T>C,\N,\N,1/4,Benign,\N,intron_variant,3.597,0.0356,1KG_AFR_AF,EDN3
483082,20:57876294:G>A,NM_207034.2:c.53-171G>A,\N,\N,1/4,Unknown significance,\N,intron_variant,5.386,\N,\N,EDN3
483083,20:57876301:A>G,NM_207034.2:c.53-164A>G,\N,\N,1/4,Unknown significance,\N,intron_variant,6.723,0.0008,1KG_AFR_AF,EDN3
483084,20:57876322:G>C,NM_207034.2:c.53-143G>C,\N,\N,1/4,Unknown significance,\N,intron_variant,0.464,\N,\N,EDN3
483085,20:57876340:C>A,NM_207034.2:c.53-125C>A,\N,\N,1/4,Unknown significance,\N,intron_variant,3.359,\N,\N,EDN3
483086,20:57876360:G>T,NM_207034.2:c.53-105G>T,\N,\N,1/4,Unknown significance,\N,intron_variant,6.524,\N,\N,EDN3
483087,20:57876363:G>T,NM_207034.2:c.53-102G>T,\N,\N,1/4,Unknown significance,\N,intron_variant,6.876,\N,\N,EDN3
483088,20:57876382:C>T,NM_207034.2:c.53-83C>T,\N,\N,1/4,Unknown significance,\N,intron_variant,6.065,\N,\N,EDN3
483089,20:57876384:C>G,NM_207034.2:c.53-81C>G,\N,\N,1/4,Unknown significance,\N,intron_variant,7.489,0.001,1KG_EAS_AF,EDN3
483090,20:57876386:C>T,NM_207034.2:c.53-79C>T,\N,\N,1/4,Benign,\N,intron_variant,9.385,0.0083,1KG_AFR_AF,EDN3
483091,20:57876401:G>A,NM_207034.2:c.53-64G>A,\N,\N,1/4,Unknown significance,\N,intron_variant,7.681,0.001,1KG_EAS_AF,EDN3
483092,20:57876425:G>C,NM_207034.2:c.53-40G>C,\N,\N,1/4,Unknown significance,\N,intron_variant,14.53,0.0000174344,EXAC_NFE_AF,EDN3
483093,20:57876434:G>A,NM_207034.2:c.53-31G>A,\N,\N,1/4,Unknown significance,\N,intron_variant,16.09,0.0000171934,EXAC_NFE_AF,EDN3
483094,20:57876435:C>T,NM_207034.2:c.53-30C>T,\N,\N,1/4,Unknown significance,\N,intron_variant,17.03,\N,\N,EDN3
483095,20:57876442:G>A,NM_207034.2:c.53-23G>A,\N,\N,1/4,Unknown significance,\N,intron_variant,13.12,\N,\N,EDN3
483096,20:57876443:C>A,NM_207034.2:c.53-22C>A,\N,\N,1/4,Unknown significance,\N,intron_variant,13.8,0.000124378,EXAC_EAS_AF,EDN3
483097,20:57876445:C>A,NM_207034.2:c.53-20C>A,\N,\N,1/4,Unknown significance,\N,intron_variant,9.943,\N,\N,EDN3
483098,20:57876454:G>A,NM_207034.2:c.53-11G>A,\N,\N,1/4,Unknown significance,\N,intron_variant,11.97,0.000162813,EXAC_FIN_AF,EDN3
483099,20:57876455:C>T,NM_207034.2:c.53-10C>T,\N,\N,1/4,Unknown significance,\N,intron_variant,13.04,0.0000631872,EXAC_SAS_AF,EDN3
483100,20:57876464:G>A,NM_207034.2:c.53-1G>A,\N,\N,1/4,Unknown significance,\N,splice_acceptor_variant,22.7,0.0000161619,EXAC_NFE_AF,EDN3
483101,20:57876469:C>A,NM_207034.2:c.57C>A,NP_996917.1:p.Phe19Leu,2/5,\N,Likely benign,\N,missense_variant,0.003,0.0014,1KG_AMR_AF,EDN3
483102,20:57876469:C>T,NM_207034.2:c.57C>T,NP_996917.1:p.Phe19=,2/5,\N,Unknown significance,\N,synonymous_variant,8.818,0.0000160648,EXAC_NFE_AF,EDN3
483103,20:57876473:C>T,NM_001302456.1:c.61C>T,NP_001289385.1:p.Pro21Ser,2/4,\N,Unknown significance,\N,missense_variant,9.79,\N,\N,EDN3
483104,20:57876474:C>G,NM_001302456.1:c.62C>G,NP_001289385.1:p.Pro21Arg,2/4,\N,Unknown significance,\N,missense_variant,20.6,0.0000616219,EXAC_SAS_AF,EDN3
483105,20:57876492:A>C,NM_207034.2:c.80A>C,NP_996917.1:p.Asp27Ala,2/5,\N,Likely benign,\N,missense_variant,2.641,0.000061065,EXAC_SAS_AF,EDN3
483106,20:57876495:C>T,NM_207034.2:c.83C>T,NP_996917.1:p.Ala28Val,2/5,\N,Unknown significance,\N,missense_variant,23.1,0.0000157953,EXAC_NFE_AF,EDN3
483107,20:57876503:C>A,NM_207034.2:c.91C>A,NP_996917.1:p.Arg31Ser,2/5,\N,Likely benign,\N,missense_variant,0.015,0.0000157446,EXAC_NFE_AF,EDN3
483108,20:57876505:C>T,NM_207034.2:c.93C>T,NP_996917.1:p.Arg31=,2/5,\N,Unknown significance,\N,synonymous_variant,10.59,0.0000157119,EXAC_NFE_AF,EDN3
483109,20:57876506:G>A,NM_207034.2:c.94G>A,NP_996917.1:p.Gly32Ser,2/5,\N,Likely benign,\N,missense_variant,2.812,0.000116387,EVS_EA_AF,EDN3
483110,20:57876510:T>A,NM_207034.2:c.98T>A,NP_996917.1:p.Val33Glu,2/5,\N,Likely benign,\N,missense_variant,1.821,0.000226963,EVS_AA_AF,EDN3
483111,20:57876510:T>C,NM_207034.2:c.98T>C,NP_996917.1:p.Val33Ala,2/5,\N,Likely benign,\N,missense_variant,0.003,0.0000608495,EXAC_SAS_AF,EDN3
483112,20:57876514:C>A,NM_207034.2:c.102C>A,NP_996917.1:p.Ser34=,2/5,\N,Unknown significance,\N,synonymous_variant,10.53,0.0000156255,EXAC_NFE_AF,EDN3
483113,20:57876514:C>T,NM_207034.2:c.102C>T,NP_996917.1:p.Ser34=,2/5,\N,Unknown significance,\N,synonymous_variant,9.897,0.000350754,EXAC_AMR_AF,EDN3
483114,20:57876516:A>G,NM_207034.2:c.104A>G,NP_996917.1:p.Gln35Arg,2/5,\N,Likely benign,\N,missense_variant,0.001,0.000350754,EXAC_AMR_AF,EDN3
483115,20:57876519:C>T,NM_207034.2:c.107C>T,NP_996917.1:p.Ala36Val,2/5,\N,Likely benign,\N,missense_variant,0.001,0.0000155904,EXAC_NFE_AF,EDN3
483116,20:57876522:C>A,NM_001302456.1:c.110C>A,NP_001289385.1:p.Pro37His,2/4,\N,Unknown significance,\N,missense_variant,15.49,0.000175254,EXAC_AMR_AF,EDN3
483117,20:57876529:A>C,NM_207034.2:c.117A>C,NP_996917.1:p.Ala39=,2/5,\N,Unknown significance,\N,synonymous_variant,0.105,0.000116768,EXAC_EAS_AF,EDN3
483118,20:57876533:A>G,NM_207034.2:c.121A>G,NP_996917.1:p.Arg41Gly,2/5,\N,Likely benign,\N,missense_variant,7.935,0.000175009,EXAC_AMR_AF,EDN3
483119,20:57876533:A>T,NM_207034.2:c.121A>T,NP_996917.1:p.Arg41Ter,2/5,\N,Unknown significance,\N,stop_gained,34,0.0000155063,EXAC_NFE_AF,EDN3
483120,20:57876534:G>T,NM_207034.2:c.122G>T,NP_996917.1:p.Arg41Ile,2/5,\N,Unknown significance,\N,missense_variant,21,0.000121462,EXAC_SAS_AF,EDN3
483121,20:57876542:G>A,NM_207034.2:c.130G>A,NP_996917.1:p.Gly44Arg,2/5,\N,Unknown significance,\N,missense_variant,23,\N,\N,EDN3
483122,20:57876547:C>T,NM_207034.2:c.135C>T,NP_996917.1:p.Asp45=,2/5,\N,Unknown significance,\N,synonymous_variant,7.725,0.000226963,EVS_AA_AF,EDN3
483123,20:57876549:G>A,NM_001302456.1:c.137G>A,NP_001289385.1:p.Cys46Tyr,2/4,\N,Likely benign,\N,missense_variant,0.943,0.0000874126,EXAC_AMR_AF,EDN3
483124,20:57876553:A>AGAGACTGTGGCTGGCCCTGGCGAG,NM_207034.2:c.167_190dup,NP_996917.1:p.Glu56_Glu63dup,2/5,\N,Unknown significance,\N,inframe_insertion,\N,\N,\N,EDN3
483125,20:57876553:A>G,NM_207034.2:c.141A>G,NP_996917.1:p.Glu47=,2/5,\N,Unknown significance,\N,synonymous_variant,0.316,\N,\N,EDN3
483126,20:57876553:AGAGACTGTGGCTGGCCCTGGCGAG>A,NM_207034.2:c.167_190del,NP_996917.1:p.Glu56_Glu63del,2/5,\N,Unknown significance,\N,inframe_deletion,6.111,\N,\N,EDN3
483127,20:57876556:G>C,NM_207034.2:c.144G>C,NP_996917.1:p.Glu48Asp,2/5,\N,Pathogenic,Hirschsprung disease,missense_variant,3.348,0.000116414,EXAC_EAS_AF,EDN3
483128,20:57876558:C>T,NM_001302456.1:c.146C>T,NP_001289385.1:p.Thr49Ile,2/4,\N,Unknown significance,\N,missense_variant,14.61,0.000116387,EVS_EA_AF,EDN3
483129,20:57876571:T>C,NM_207034.2:c.159T>C,NP_996917.1:p.Pro53=,2/5,\N,Unknown significance,\N,synonymous_variant,0.018,0.000208507,EXAC_AFR_AF,EDN3
483130,20:57876575:G>A,NM_207034.2:c.163G>A,NP_996917.1:p.Glu55Lys,2/5,\N,Likely benign,\N,missense_variant,11.5,0.0000310116,EXAC_NFE_AF,EDN3
483131,20:57876575:G>T,NM_207034.2:c.163G>T,NP_996917.1:p.Glu55Ter,2/5,\N,Pathogenic,Hirschsprung disease,stop_gained,34,\N,\N,EDN3
483132,20:57876579:A>G,NM_207033.1:c.167A>G,NP_996916.1:p.Glu56Gly,2/4,\N,Likely benign,\N,missense_variant,6.408,0.000682128,EVS_AA_AF,EDN3
483133,20:57876579:AGACTGTGGCTGGCCCTGGCGAGGG>A,NM_207034.2:c.177_200del,NP_996917.1:p.Gly60_Ala67del,2/5,\N,Unknown significance,\N,inframe_deletion,7.89,\N,\N,EDN3
483134,20:57876591:G>C,NM_207034.2:c.179G>C,NP_996917.1:p.Gly60Ala,2/5,\N,Likely benign,\N,missense_variant,0.002,0.000206016,EXAC_AFR_AF,EDN3
483135,20:57876593:C>T,NM_207034.2:c.181C>T,NP_996917.1:p.Pro61Ser,2/5,\N,Likely benign,\N,missense_variant,0.005,0.000227169,EVS_AA_AF,EDN3
483136,20:57876599:G>A,NM_207034.2:c.187G>A,NP_996917.1:p.Glu63Lys,2/5,\N,Likely benign,\N,missense_variant,6.678,0.0000606134,EXAC_SAS_AF,EDN3
483137,20:57876602:G>A,NM_207034.2:c.190G>A,NP_996917.1:p.Gly64Arg,2/5,\N,Likely benign,\N,missense_variant,3.238,0.0000606061,EXAC_SAS_AF,EDN3
483138,20:57876603:G>A,NM_207034.2:c.191G>A,NP_996917.1:p.Gly64Glu,2/5,\N,Likely benign,\N,missense_variant,0.406,0.000121212,EXAC_SAS_AF,EDN3
483139,20:57876604:G>T,NM_207034.2:c.192G>T,NP_996917.1:p.Gly64=,2/5,\N,Unknown significance,\N,synonymous_variant,0.689,0.0000153586,EXAC_NFE_AF,EDN3
483140,20:57876605:A>G,NM_207034.2:c.193A>G,NP_996917.1:p.Thr65Ala,2/5,\N,Likely benign,\N,missense_variant,0.277,0.000174764,EXAC_AMR_AF,EDN3
483141,20:57876612:C>CTGG,NM_207034.2:c.200_201insTGG,NP_996917.1:p.Ala67_Pro68insGly,2/5,\N,Unknown significance,\N,inframe_insertion,10.67,\N,\N,EDN3
483142,20:57876614:C>T,NM_207034.2:c.202C>T,NP_996917.1:p.Pro68Ser,2/5,\N,Likely benign,\N,missense_variant,1.58,0.0000999201,EXAC_AFR_AF,EDN3
483143,20:57876615:C>CT,NM_207034.2:c.203_204insT,NP_996917.1:p.Thr69AspfsTer22,2/5,\N,Unknown significance,\N,frameshift_variant,22.9,\N,\N,EDN3
483144,20:57876615:C>T,NM_207034.2:c.203C>T,NP_996917.1:p.Pro68Leu,2/5,\N,Likely benign,\N,missense_variant,11.19,\N,\N,EDN3
483145,20:57876617:A>G,NM_207034.2:c.205A>G,NP_996917.1:p.Thr69Ala,2/5,\N,Likely benign,\N,missense_variant,0.002,\N,\N,EDN3
483146,20:57876618:C>T,NM_207034.2:c.206C>T,NP_996917.1:p.Thr69Ile,2/5,\N,Likely benign,\N,missense_variant,1.965,0.0000606061,EXAC_SAS_AF,EDN3
483147,20:57876620:G>A,NM_207034.2:c.208G>A,NP_996917.1:p.Ala70Thr,2/5,\N,Likely benign,\N,missense_variant,6.579,0.0008,1KG_AFR_AF,EDN3
483148,20:57876630:G>A,NM_207034.2:c.218G>A,NP_996917.1:p.Gly73Asp,2/5,\N,Likely benign,\N,missense_variant,11.65,0.000227066,EVS_AA_AF,EDN3
483149,20:57876634:A>C,NM_207034.2:c.222A>C,NP_996917.1:p.Pro74=,2/5,\N,Unknown significance,\N,synonymous_variant,0.074,0.0000151534,EXAC_NFE_AF,EDN3
483150,20:57876637:C>T,NM_207034.2:c.225C>T,NP_996917.1:p.Ser75=,2/5,\N,Unknown significance,\N,synonymous_variant,9.899,0.0008,1KG_AFR_AF,EDN3
483151,20:57876646:C>T,NM_207034.2:c.234C>T,NP_996917.1:p.Ser78=,2/5,\N,Unknown significance,\N,synonymous_variant,7.17,0.0000151103,EXAC_NFE_AF,EDN3
483152,20:57876651:G>A,NM_207034.2:c.239G>A,NP_996917.1:p.Gly80Glu,2/5,\N,Likely benign,\N,missense_variant,12.07,0.000116036,EXAC_EAS_AF,EDN3
483153,20:57876656:G>A,NM_207034.2:c.244G>A,NP_996917.1:p.Glu82Lys,2/5,\N,Likely benign,\N,missense_variant,7.513,0.000116306,EVS_EA_AF,EDN3
483154,20:57876663:C>A,NM_207034.2:c.251C>A,NP_996917.1:p.Ala84Glu,2/5,\N,Likely benign,\N,missense_variant,0.002,0.0008,1KG_AFR_AF,EDN3
483155,20:57876663:C>T,NM_207034.2:c.251C>T,NP_996917.1:p.Ala84Val,2/5,\N,Likely benign,\N,missense_variant,0.002,0.000347625,EXAC_EAS_AF,EDN3
483156,20:57876666:C>G,NM_207034.2:c.254C>G,NP_996917.1:p.Ala85Gly,2/5,\N,Likely benign,\N,missense_variant,3.561,0.0008,1KG_AFR_AF,EDN3
483157,20:57876666:C>T,NM_207034.2:c.254C>T,NP_996917.1:p.Ala85Val,2/5,\N,Likely benign,\N,missense_variant,7.611,0.0000605914,EXAC_SAS_AF,EDN3
483158,20:57876668:G>A,NM_207034.2:c.256G>A,NP_996917.1:p.Glu86Lys,2/5,\N,Likely benign,\N,missense_variant,0.006,0.0000605914,EXAC_SAS_AF,EDN3
483159,20:57876669:A>T,NM_207034.2:c.257A>T,NP_996917.1:p.Glu86Val,2/5,\N,Unknown significance,\N,missense_variant,8.464,0.00222717,EXAC_OTH_AF,EDN3
483160,20:57876669:A>AG,NM_207034.2:c.262dup,NP_996917.1:p.Ala88GlyfsTer3,2/5,\N,Pathogenic,Hirschsprung disease,frameshift_variant,23,\N,\N,EDN3
483161,20:57876672:G>T,NM_001302456.1:c.260G>T,NP_001289385.1:p.Gly87Val,2/4,\N,Unknown significance,\N,missense_variant,3.654,0.0000605914,EXAC_SAS_AF,EDN3
483162,20:57876673:G>A,NM_207034.2:c.261G>A,NP_996917.1:p.Gly87=,2/5,\N,Unknown significance,\N,synonymous_variant,1.763,0.000116306,EVS_EA_AF,EDN3
483163,20:57876674:G>T,NM_207034.2:c.262G>T,NP_996917.1:p.Ala88Ser,2/5,\N,Likely benign,\N,missense_variant,0.005,0.000121183,EXAC_SAS_AF,EDN3
483164,20:57876674:GC>T,NM_207034.2:c.262_263delinsT,NP_996917.1:p.Ala88SerfsTer121,2/5,\N,Pathogenic,Shah-Waardenburg syndrome,frameshift_variant,\N,\N,\N,EDN3
483165,20:57876677:C>T,NM_001302456.1:c.265C>T,NP_001289385.1:p.Pro89Ser,2/4,\N,Unknown significance,\N,missense_variant,9.666,0.0008,1KG_AFR_AF,EDN3
483166,20:57876678:C>T,NM_207032.1:c.266C>T,NP_996915.1:p.Pro89Leu,2/5,\N,Unknown significance,\N,missense_variant,10.8,0.0000605767,EXAC_SAS_AF,EDN3
483167,20:57876680:G>C,NM_207034.2:c.268G>C,NP_996917.1:p.Glu90Gln,2/5,\N,Likely benign,\N,missense_variant,5.198,0.000226963,EVS_AA_AF,EDN3
483168,20:57876682:G>A,NM_207034.2:c.270G>A,NP_996917.1:p.Glu90=,2/5,\N,Unknown significance,\N,synonymous_variant,8.233,\N,\N,EDN3
483169,20:57876689:C>G,NM_207034.2:c.277C>G,NP_996917.1:p.Arg93Gly,2/5,\N,Pathogenic,Waardenburg syndrome 4,missense_variant,28,\N,\N,EDN3
483170,20:57876690:G>A,NM_207034.2:c.278G>A,NP_996917.1:p.Arg93Gln,2/5,\N,Unknown significance,\N,missense_variant,33,0.0000150096,EXAC_NFE_AF,EDN3
483171,20:57876695:A>G,NM_207034.2:c.283A>G,NP_996917.1:p.Arg95Gly,2/5,\N,Unknown significance,\N,missense_variant,24.9,0.0000150074,EXAC_NFE_AF,EDN3
483172,20:57876698:C>T,NM_207034.2:c.286C>T,NP_996917.1:p.Arg96Cys,2/5,\N,Pathogenic,Shah-Waardenburg syndrome,missense_variant,35,\N,\N,EDN3
483173,20:57876699:G>A,NM_207034.2:c.287G>A,NP_996917.1:p.Arg96His,2/5,\N,Unknown significance,\N,missense_variant,34,0.000116279,EVS_EA_AF,EDN3
483174,20:57876705:C>A,NM_207034.2:c.293C>A,NP_996917.1:p.Thr98Lys,2/5,\N,Pathogenic,Shah-Waardenburg syndrome,missense_variant,35,0.000242248,EXAC_SAS_AF,EDN3
483175,20:57876705:C>T,NM_207034.2:c.293C>T,NP_996917.1:p.Thr98Met,2/5,\N,Pathogenic,Waardenburg syndrome 4B,missense_variant,34,\N,\N,EDN3
483176,20:57876706:G>C,NM_207034.2:c.294G>C,NP_996917.1:p.Thr98=,2/5,\N,Unknown significance,\N,synonymous_variant,13.63,0.0015,1KG_AFR_AF,EDN3
483177,20:57876713:A>G,NM_207034.2:c.301A>G,NP_996917.1:p.Thr101Ala,2/5,\N,Unknown significance,\N,missense_variant,25.3,0.0000149993,EXAC_NFE_AF,EDN3
483178,20:57876714:C>T,NM_207034.2:c.302C>T,NP_996917.1:p.Thr101Ile,2/5,\N,Unknown significance,\N,missense_variant,32,0.0000863707,EXAC_AMR_AF,EDN3
483179,20:57876718:C>G,NM_207034.2:c.306C>G,NP_996917.1:p.Tyr102Ter,2/5,\N,Unknown significance,\N,stop_gained,37,0.000192345,EXAC_AFR_AF,EDN3
483180,20:57876721:G>A,NM_207034.2:c.309G>A,NP_996917.1:p.Lys103=,2/5,\N,Unknown significance,\N,synonymous_variant,13.75,0.0000961723,EXAC_AFR_AF,EDN3
483181,20:57876735:T>C,NM_207034.2:c.323T>C,NP_996917.1:p.Val108Ala,2/5,\N,Unknown significance,\N,missense_variant,27.3,0.000060562,EXAC_SAS_AF,EDN3
483182,20:57876742:T>C,NM_207034.2:c.330T>C,NP_996917.1:p.Tyr110=,2/5,\N,Unknown significance,\N,synonymous_variant,0.143,\N,\N,EDN3
483183,20:57876744:G>A,NM_207034.2:c.332G>A,NP_996917.1:p.Cys111Tyr,2/5,\N,Unknown significance,\N,missense_variant,29,0.0000149993,EXAC_NFE_AF,EDN3
483184,20:57876747:A>G,NM_207034.2:c.335A>G,NP_996917.1:p.His112Arg,2/5,\N,Pathogenic,Shah-Waardenburg syndrome,missense_variant,26.9,\N,\N,EDN3
483185,20:57876748:C>G,NM_207034.2:c.336C>G,NP_996917.1:p.His112Gln,2/5,\N,Unknown significance,\N,missense_variant,27.5,0.0000150024,EXAC_NFE_AF,EDN3
483186,20:57876752:G>A,NM_207034.2:c.340G>A,NP_996917.1:p.Asp114Asn,2/5,\N,Unknown significance,\N,missense_variant,33,0.00011558,EXAC_EAS_AF,EDN3
483187,20:57876757:C>T,NM_207034.2:c.345C>T,NP_996917.1:p.Ile115=,2/5,\N,Unknown significance,\N,synonymous_variant,15.23,\N,\N,EDN3
483188,20:57876762:G>C,NM_207034.2:c.350G>C,NP_996917.1:p.Trp117Ser,2/5,\N,Unknown significance,\N,missense_variant,32,0.0000150074,EXAC_NFE_AF,EDN3
483189,20:57876767:AAC>A,NM_207034.2:c.358_359del,NP_996917.1:p.Thr120SerfsTer46,2/5,\N,Unknown significance,\N,frameshift_variant,35,0.0000962279,EXAC_AFR_AF,EDN3
483190,20:57876768:A>T,NM_207034.2:c.356A>T,NP_996917.1:p.Asn119Ile,2/5,\N,Unknown significance,\N,missense_variant,29.6,\N,\N,EDN3
483191,20:57876772:T>C,NM_207034.2:c.360T>C,NP_996917.1:p.Thr120=,2/5,\N,Unknown significance,\N,synonymous_variant,0.846,\N,\N,EDN3
483192,20:57876773:C>G,NM_207034.2:c.361C>G,NP_996917.1:p.Pro121Ala,2/5,\N,Unknown significance,\N,missense_variant,25.4,0.00011558,EXAC_EAS_AF,EDN3
483193,20:57876774:C>G,NM_207034.2:c.362C>G,NP_996917.1:p.Pro121Arg,2/5,\N,Unknown significance,\N,missense_variant,26.9,0.0000150123,EXAC_NFE_AF,EDN3
483194,20:57876774:C>T,NM_207034.2:c.362C>T,NP_996917.1:p.Pro121Leu,2/5,\N,Unknown significance,\N,missense_variant,31,\N,\N,EDN3
483195,20:57876780:A>G,NM_207034.2:c.365+3A>G,\N,\N,2/4,Unknown significance,\N,splice_region_variant&intron_variant,10.83,0.000060562,EXAC_SAS_AF,EDN3
483196,20:57876784:C>T,NM_207034.2:c.365+7C>T,\N,\N,2/4,Unknown significance,\N,splice_region_variant&intron_variant,10.64,0.0000150182,EXAC_NFE_AF,EDN3
483197,20:57876792:T>A,NM_207034.2:c.365+15T>A,\N,\N,2/4,Unknown significance,\N,intron_variant,4.533,0.000060562,EXAC_SAS_AF,EDN3
483198,20:57876792:T>G,NM_207034.2:c.365+15T>G,\N,\N,2/4,Unknown significance,\N,intron_variant,2.88,0.0000150195,EXAC_NFE_AF,EDN3
483199,20:57876800:G>A,NM_207034.2:c.365+23G>A,\N,\N,2/4,Benign,\N,intron_variant,8.96,0.0340698,EVS_EA_AF,EDN3
483200,20:57876803:A>G,NM_207034.2:c.365+26A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,5.442,0.000181686,EXAC_SAS_AF,EDN3
483201,20:57876804:C>T,NM_207034.2:c.365+27C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,4.457,0.002,1KG_SAS_AF,EDN3
483202,20:57876805:G>A,NM_207034.2:c.365+28G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,0.682,0.000226963,EVS_AA_AF,EDN3
483203,20:57876808:G>A,NM_207034.2:c.365+31G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,4.399,0.000226963,EVS_AA_AF,EDN3
483204,20:57876809:C>T,NM_207034.2:c.365+32C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,2.065,0.00030281,EXAC_SAS_AF,EDN3
483205,20:57876814:G>A,NM_207034.2:c.365+37G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,1.158,\N,\N,EDN3
483206,20:57876817:C>G,NM_207034.2:c.365+40C>G,\N,\N,2/4,Unknown significance,\N,intron_variant,5.362,0.001,1KG_EAS_AF,EDN3
483207,20:57876818:C>G,NM_207034.2:c.365+41C>G,\N,\N,2/4,Unknown significance,\N,intron_variant,5.96,0.000226963,EVS_AA_AF,EDN3
483208,20:57876818:C>T,NM_207034.2:c.365+41C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,6.778,0.000172831,EXAC_AMR_AF,EDN3
483209,20:57876826:C>T,NM_207034.2:c.365+49C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,7.618,0.0000150625,EXAC_NFE_AF,EDN3
483210,20:57876827:A>G,NM_207034.2:c.365+50A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,6.673,0.000030125,EXAC_NFE_AF,EDN3
483211,20:57876828:T>C,NM_207034.2:c.365+51T>C,\N,\N,2/4,Unknown significance,\N,intron_variant,2.559,0.0000964692,EXAC_AFR_AF,EDN3
483212,20:57876843:G>A,NM_207034.2:c.365+66G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,3.291,0.0008,1KG_AFR_AF,EDN3
483213,20:57876850:T>C,NM_207034.2:c.365+73T>C,\N,\N,2/4,Unknown significance,\N,intron_variant,3.607,0.003,1KG_AFR_AF,EDN3
483214,20:57876858:C>T,NM_207034.2:c.365+81C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,7.106,0.001,1KG_SAS_AF,EDN3
483215,20:57876868:G>T,NM_207034.2:c.365+91G>T,\N,\N,2/4,Unknown significance,\N,intron_variant,2.803,0.0014,1KG_AMR_AF,EDN3
483216,20:57876894:G>A,NM_207034.2:c.365+117G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,17.6,0.0008,1KG_AFR_AF,EDN3
483217,20:57876916:G>A,NM_207034.2:c.365+139G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,3.511,\N,\N,EDN3
483218,20:57876920:C>T,NM_207034.2:c.365+143C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,9.357,0.0043,1KG_AMR_AF,EDN3
483219,20:57876968:C>T,NM_207034.2:c.365+191C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,5.893,0.001,1KG_EUR_AF,EDN3
483220,20:57876977:GGGCCT>G,NM_207034.2:c.365+205_365+209del,\N,\N,2/4,Unknown significance,\N,intron_variant,\N,0.0023,1KG_AFR_AF,EDN3
483221,20:57876980:C>T,NM_207034.2:c.365+203C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,8.63,0.001,1KG_EUR_AF,EDN3
483222,20:57877043:T>G,NM_207034.2:c.365+266T>G,\N,\N,2/4,Benign,\N,intron_variant,4.978,0.0184,1KG_SAS_AF,EDN3
483223,20:57877044:G>T,NM_207034.2:c.365+267G>T,\N,\N,2/4,Unknown significance,\N,intron_variant,2.377,0.002,1KG_EAS_AF,EDN3
483224,20:57877080:G>A,NM_207034.2:c.365+303G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,16.08,0.001,1KG_SAS_AF,EDN3
483225,20:57877096:T>C,NM_207034.2:c.365+319T>C,\N,\N,2/4,Unknown significance,\N,intron_variant,9.315,\N,\N,EDN3
483226,20:57877126:A>ATCTCT,NM_207034.2:c.365+353_365+354insTTCTC,\N,\N,2/4,Unknown significance,\N,intron_variant,\N,\N,\N,EDN3
483227,20:57877134:C>T,NM_207034.2:c.365+357C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,5.971,0.001,1KG_SAS_AF,EDN3
483228,20:57877144:C>G,NM_207034.2:c.365+367C>G,\N,\N,2/4,Unknown significance,\N,intron_variant,1.744,\N,\N,EDN3
483229,20:57877151:G>A,NM_207034.2:c.365+374G>A,\N,\N,2/4,Benign,\N,intron_variant,4.552,0.0053,1KG_AFR_AF,EDN3
483230,20:57877152:C>T,NM_207034.2:c.365+375C>T,\N,\N,2/4,Benign,\N,intron_variant,5.09,0.0053,1KG_AFR_AF,EDN3
483231,20:57877213:G>A,NM_207034.2:c.365+436G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,6.644,\N,\N,EDN3
483232,20:57877233:G>A,NM_207034.2:c.365+456G>A,\N,\N,2/4,Benign,\N,intron_variant,3.966,0.0051,1KG_SAS_AF,EDN3
483233,20:57877269:C>T,NM_207034.2:c.365+492C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,2.095,\N,\N,EDN3
483234,20:57877273:C>T,NM_207034.2:c.365+496C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,0.302,\N,\N,EDN3
483235,20:57877274:G>A,NM_207034.2:c.365+497G>A,\N,\N,2/4,Benign,\N,intron_variant,0.081,0.0174,1KG_SAS_AF,EDN3
483236,20:57877276:G>C,NM_207034.2:c.365+499G>C,\N,\N,2/4,Unknown significance,\N,intron_variant,0.364,\N,\N,EDN3
483237,20:57877282:A>C,NM_207034.2:c.365+505A>C,\N,\N,2/4,Unknown significance,\N,intron_variant,1.977,0.001,1KG_SAS_AF,EDN3
483238,20:57877295:G>A,NM_207034.2:c.365+518G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,1.194,\N,\N,EDN3
483239,20:57877298:C>T,NM_207034.2:c.365+521C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,4.834,\N,\N,EDN3
483240,20:57877318:C>G,NM_207034.2:c.365+541C>G,\N,\N,2/4,Unknown significance,\N,intron_variant,3.22,0.0029,1KG_AMR_AF,EDN3
483241,20:57877339:G>A,NM_207034.2:c.365+562G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,1.574,0.0015,1KG_AFR_AF,EDN3
483242,20:57877365:G>A,NM_207034.2:c.365+588G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,2.711,\N,\N,EDN3
483243,20:57877383:C>T,NM_207034.2:c.365+606C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,4.638,\N,\N,EDN3
483244,20:57877434:C>T,NM_207034.2:c.365+657C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,6.498,0.002,1KG_EUR_AF,EDN3
483245,20:57877472:A>T,NM_207034.2:c.365+695A>T,\N,\N,2/4,Unknown significance,\N,intron_variant,1.073,\N,\N,EDN3
483246,20:57877495:G>A,NM_207034.2:c.365+718G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,2.468,0.0015,1KG_AFR_AF,EDN3
483247,20:57877499:A>G,NM_207034.2:c.365+722A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,2.575,0.002,1KG_SAS_AF,EDN3
483248,20:57877500:G>T,NM_207034.2:c.365+723G>T,\N,\N,2/4,Unknown significance,\N,intron_variant,1.849,0.0014,1KG_AMR_AF,EDN3
483249,20:57877529:T>C,NM_207034.2:c.365+752T>C,\N,\N,2/4,Unknown significance,\N,intron_variant,3.671,\N,\N,EDN3
483250,20:57877539:G>T,NM_207034.2:c.365+762G>T,\N,\N,2/4,Unknown significance,\N,intron_variant,1.181,0.001,1KG_SAS_AF,EDN3
483251,20:57877543:G>C,NM_207034.2:c.365+766G>C,\N,\N,2/4,Unknown significance,\N,intron_variant,0.572,0.002,1KG_EAS_AF,EDN3
483252,20:57877563:T>C,NM_207034.2:c.365+786T>C,\N,\N,2/4,Unknown significance,\N,intron_variant,1.343,0.002,1KG_EAS_AF,EDN3
483253,20:57877577:T>C,NM_207034.2:c.365+800T>C,\N,\N,2/4,Unknown significance,\N,intron_variant,0.42,0.0008,1KG_AFR_AF,EDN3
483254,20:57877609:C>G,NM_207034.2:c.365+832C>G,\N,\N,2/4,Unknown significance,\N,intron_variant,3.426,\N,\N,EDN3
483255,20:57877621:A>G,NM_207034.2:c.365+844A>G,\N,\N,2/4,Benign,\N,intron_variant,1.141,0.1467,1KG_AFR_AF,EDN3
483256,20:57877679:A>G,NM_207034.2:c.365+902A>G,\N,\N,2/4,Benign,\N,intron_variant,0.907,0.0083,1KG_AFR_AF,EDN3
483257,20:57877695:A>T,NM_207034.2:c.365+918A>T,\N,\N,2/4,Unknown significance,\N,intron_variant,3.421,\N,\N,EDN3
483258,20:57877797:G>A,NM_207034.2:c.365+1020G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,4.087,\N,\N,EDN3
483259,20:57877808:C>A,NM_207034.2:c.365+1031C>A,\N,\N,2/4,Unknown significance,\N,intron_variant,3.11,0.0015,1KG_AFR_AF,EDN3
483260,20:57877830:C>A,NM_207034.2:c.365+1053C>A,\N,\N,2/4,Unknown significance,\N,intron_variant,0.224,0.0015,1KG_AFR_AF,EDN3
483261,20:57877830:C>G,NM_207034.2:c.365+1053C>G,\N,\N,2/4,Unknown significance,\N,intron_variant,0.09,0.002,1KG_EAS_AF,EDN3
483262,20:57877831:C>A,NM_207034.2:c.365+1054C>A,\N,\N,2/4,Unknown significance,\N,intron_variant,5.23,0.001,1KG_EAS_AF,EDN3
483263,20:57877847:C>T,NM_207034.2:c.365+1070C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,0.415,0.0008,1KG_AFR_AF,EDN3
483264,20:57877853:C>T,NM_207034.2:c.365+1076C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,2.667,0,1KG_ALL_AF|1KG_AFR_AF|1KG_AMR_AF|1KG_EAS_AF|1KG_EUR_AF|1KG_SAS_AF,EDN3
483265,20:57877865:G>A,NM_207034.2:c.365+1088G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,0.389,\N,\N,EDN3
483266,20:57877873:A>C,NM_207034.2:c.365+1096A>C,\N,\N,2/4,Unknown significance,\N,intron_variant,1.6,\N,\N,EDN3
483267,20:57877878:C>G,NM_207034.2:c.365+1101C>G,\N,\N,2/4,Unknown significance,\N,intron_variant,1.813,0.001,1KG_SAS_AF,EDN3
483268,20:57877884:T>C,NM_207034.2:c.365+1107T>C,\N,\N,2/4,Benign,\N,intron_variant,3.504,0.4584,1KG_AFR_AF,EDN3
483269,20:57877897:C>T,NM_207034.2:c.365+1120C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,0.335,\N,\N,EDN3
483270,20:57877933:G>T,NM_207034.2:c.365+1156G>T,\N,\N,2/4,Unknown significance,\N,intron_variant,0.566,\N,\N,EDN3
483271,20:57877938:C>G,NM_207034.2:c.365+1161C>G,\N,\N,2/4,Unknown significance,\N,intron_variant,1.066,\N,\N,EDN3
483272,20:57877958:G>A,NM_207034.2:c.365+1181G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,1.198,\N,\N,EDN3
483273,20:57877977:G>A,NM_207034.2:c.365+1200G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,2.762,\N,\N,EDN3
483274,20:57877989:A>G,NM_207034.2:c.365+1212A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,2.027,\N,\N,EDN3
483275,20:57877991:T>C,NM_207034.2:c.365+1214T>C,\N,\N,2/4,Unknown significance,\N,intron_variant,1.209,0.0008,1KG_AFR_AF,EDN3
483276,20:57878033:C>T,NM_207034.2:c.365+1256C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,4.243,0.0008,1KG_AFR_AF,EDN3
483277,20:57878039:A>G,NM_207034.2:c.365+1262A>G,\N,\N,2/4,Benign,\N,intron_variant,5.01,0.0069,1KG_EAS_AF,EDN3
483278,20:57878080:T>C,NM_207034.2:c.365+1303T>C,\N,\N,2/4,Benign,\N,intron_variant,1.477,0.6573,1KG_AFR_AF,EDN3
483279,20:57878092:A>G,NM_207034.2:c.365+1315A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,2.494,\N,\N,EDN3
483280,20:57878177:C>T,NM_207034.2:c.365+1400C>T,\N,\N,2/4,Benign,\N,intron_variant,16.54,0.0089,1KG_EUR_AF,EDN3
483281,20:57878198:T>G,NM_207034.2:c.365+1421T>G,\N,\N,2/4,Unknown significance,\N,intron_variant,6.908,\N,\N,EDN3
483282,20:57878223:G>A,NM_207034.2:c.365+1446G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,0.974,0.001,1KG_EAS_AF,EDN3
483283,20:57878231:T>C,NM_207034.2:c.365+1454T>C,\N,\N,2/4,Unknown significance,\N,intron_variant,1.616,0.002,1KG_SAS_AF,EDN3
483284,20:57878231:T>G,NM_207034.2:c.365+1454T>G,\N,\N,2/4,Benign,\N,intron_variant,2.625,0.0058,1KG_AMR_AF,EDN3
483285,20:57878267:C>G,NM_207034.2:c.365+1490C>G,\N,\N,2/4,Unknown significance,\N,intron_variant,1.849,0.003,1KG_EAS_AF,EDN3
483286,20:57878285:G>A,NM_207034.2:c.365+1508G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,4.558,0.0015,1KG_AFR_AF,EDN3
483287,20:57878302:G>C,NM_207034.2:c.365+1525G>C,\N,\N,2/4,Unknown significance,\N,intron_variant,0.498,\N,\N,EDN3
483288,20:57878336:G>A,NM_207034.2:c.365+1559G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,5.144,\N,\N,EDN3
483289,20:57878389:A>C,NM_207034.2:c.365+1612A>C,\N,\N,2/4,Unknown significance,\N,intron_variant,1.672,0.001,1KG_EAS_AF,EDN3
483290,20:57878395:C>T,NM_207034.2:c.365+1618C>T,\N,\N,2/4,Benign,\N,intron_variant,0.646,0.0363,1KG_AFR_AF,EDN3
483291,20:57878396:G>C,NM_207034.2:c.365+1619G>C,\N,\N,2/4,Unknown significance,\N,intron_variant,0.025,0.0014,1KG_AMR_AF,EDN3
483292,20:57878403:G>A,NM_207034.2:c.365+1626G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,3.096,0.0015,1KG_AFR_AF,EDN3
483293,20:57878408:C>A,NM_207034.2:c.365+1631C>A,\N,\N,2/4,Unknown significance,\N,intron_variant,6.18,0.003,1KG_AFR_AF,EDN3
483294,20:57878414:T>C,NM_207034.2:c.365+1637T>C,\N,\N,2/4,Benign,\N,intron_variant,1.083,0.0303,1KG_AMR_AF,EDN3
483295,20:57878416:G>C,NM_207034.2:c.365+1639G>C,\N,\N,2/4,Unknown significance,\N,intron_variant,0.265,\N,\N,EDN3
483296,20:57878420:C>A,NM_207034.2:c.365+1643C>A,\N,\N,2/4,Unknown significance,\N,intron_variant,5.547,0.001,1KG_SAS_AF,EDN3
483297,20:57878426:C>T,NM_207034.2:c.365+1649C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,4.826,\N,\N,EDN3
483298,20:57878440:C>T,NM_207034.2:c.365+1663C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,2.846,\N,\N,EDN3
483299,20:57878442:T>A,NM_207034.2:c.365+1665T>A,\N,\N,2/4,Unknown significance,\N,intron_variant,3.083,\N,\N,EDN3
483300,20:57878477:C>G,NM_207034.2:c.365+1700C>G,\N,\N,2/4,Unknown significance,\N,intron_variant,3.471,0.0008,1KG_AFR_AF,EDN3
483301,20:57878507:G>A,NM_207034.2:c.365+1730G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,5.554,0.002,1KG_EUR_AF,EDN3
483302,20:57878509:C>A,NM_207034.2:c.365+1732C>A,\N,\N,2/4,Unknown significance,\N,intron_variant,5.061,\N,\N,EDN3
483303,20:57878509:C>T,NM_207034.2:c.365+1732C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,4.985,0.002,1KG_EAS_AF,EDN3
483304,20:57878523:C>T,NM_207034.2:c.365+1746C>T,\N,\N,2/4,Benign,\N,intron_variant,3.071,0.0102,1KG_SAS_AF,EDN3
483305,20:57878524:G>A,NM_207034.2:c.365+1747G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,7.487,\N,\N,EDN3
483306,20:57878546:C>T,NM_207034.2:c.365+1769C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,13.49,0.001,1KG_EUR_AF,EDN3
483307,20:57878575:A>G,NM_207034.2:c.365+1798A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,12.18,\N,\N,EDN3
483308,20:57878577:A>G,NM_207034.2:c.365+1800A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,9.108,0.0008,1KG_AFR_AF,EDN3
483309,20:57878581:C>T,NM_207034.2:c.365+1804C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,7.1,0.001,1KG_EUR_AF,EDN3
483310,20:57878591:T>G,NM_207034.2:c.365+1814T>G,\N,\N,2/4,Benign,\N,intron_variant,5.357,0.9675,1KG_AFR_AF,EDN3
483311,20:57878593:C>A,NM_207034.2:c.365+1816C>A,\N,\N,2/4,Unknown significance,\N,intron_variant,5.115,0.002,1KG_SAS_AF,EDN3
483312,20:57878594:A>G,NM_207034.2:c.365+1817A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,3.828,0.0029,1KG_AMR_AF,EDN3
483313,20:57878595:G>C,NM_207034.2:c.365+1818G>C,\N,\N,2/4,Unknown significance,\N,intron_variant,2.851,\N,\N,EDN3
483314,20:57878653:C>T,NM_207034.2:c.365+1876C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,3.329,0.0014,1KG_AMR_AF,EDN3
483315,20:57878670:A>T,NM_207034.2:c.365+1893A>T,\N,\N,2/4,Unknown significance,\N,intron_variant,2.015,\N,\N,EDN3
483316,20:57878671:C>T,NM_207034.2:c.365+1894C>T,\N,\N,2/4,Benign,\N,intron_variant,4.531,0.1399,1KG_EAS_AF,EDN3
483317,20:57878672:C>G,NM_207034.2:c.365+1895C>G,\N,\N,2/4,Unknown significance,\N,intron_variant,1.688,\N,\N,EDN3
483318,20:57878674:C>T,NM_207034.2:c.365+1897C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,2.432,\N,\N,EDN3
483319,20:57878675:G>A,NM_207034.2:c.365+1898G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,0.02,0.0031,1KG_SAS_AF,EDN3
483320,20:57878678:G>GGTAAA,NM_207034.2:c.365+1901_365+1902insGTAAA,\N,\N,2/4,Unknown significance,\N,intron_variant,\N,\N,\N,EDN3
483321,20:57878704:T>G,NM_207034.2:c.365+1927T>G,\N,\N,2/4,Benign,\N,intron_variant,5.631,0.0143,1KG_SAS_AF,EDN3
483322,20:57878802:C>T,NM_207034.2:c.365+2025C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,0.605,\N,\N,EDN3
483323,20:57878843:C>G,NM_207034.2:c.365+2066C>G,\N,\N,2/4,Unknown significance,\N,intron_variant,5.67,0.001,1KG_SAS_AF,EDN3
483324,20:57878900:T>G,NM_207034.2:c.365+2123T>G,\N,\N,2/4,Unknown significance,\N,intron_variant,5.713,0.001,1KG_EAS_AF,EDN3
483325,20:57878917:A>G,NM_207034.2:c.365+2140A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,4.972,\N,\N,EDN3
483326,20:57878937:G>A,NM_207034.2:c.365+2160G>A,\N,\N,2/4,Benign,\N,intron_variant,10.86,0.0628,1KG_AFR_AF,EDN3
483327,20:57878942:A>G,NM_207034.2:c.365+2165A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,10.7,\N,\N,EDN3
483328,20:57878962:C>T,NM_207034.2:c.365+2185C>T,\N,\N,2/4,Benign,\N,intron_variant,7.153,0.0053,1KG_AFR_AF,EDN3
483329,20:57878987:C>T,NM_207034.2:c.365+2210C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,5.849,0.004,1KG_EUR_AF,EDN3
483330,20:57879001:C>A,NM_207034.2:c.365+2224C>A,\N,\N,2/4,Unknown significance,\N,intron_variant,9.807,\N,\N,EDN3
483331,20:57879066:C>CT,NM_207034.2:c.365+2291dup,\N,\N,2/4,Unknown significance,\N,intron_variant,\N,\N,\N,EDN3
483332,20:57879068:T>TC,NM_207034.2:c.365+2294dup,\N,\N,2/4,Unknown significance,\N,intron_variant,\N,\N,\N,EDN3
483333,20:57879094:C>CT,NM_207034.2:c.365+2320dup,\N,\N,2/4,Unknown significance,\N,intron_variant,\N,\N,\N,EDN3
483334,20:57879102:C>T,NM_207034.2:c.365+2325C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,9.995,\N,\N,EDN3
483335,20:57879165:C>T,NM_207034.2:c.365+2388C>T,\N,\N,2/4,Benign,\N,intron_variant,0.343,0.1329,1KG_EAS_AF,EDN3
483336,20:57879211:G>A,NM_207034.2:c.365+2434G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,1.639,\N,\N,EDN3
483337,20:57879226:T>C,NM_207034.2:c.365+2449T>C,\N,\N,2/4,Unknown significance,\N,intron_variant,0.542,\N,\N,EDN3
483338,20:57879244:C>T,NM_207034.2:c.365+2467C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,2.784,\N,\N,EDN3
483339,20:57879275:C>T,NM_207034.2:c.365+2498C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,4.351,0.0014,1KG_AMR_AF,EDN3
483340,20:57879297:T>A,NM_207034.2:c.365+2520T>A,\N,\N,2/4,Unknown significance,\N,intron_variant,3.373,\N,\N,EDN3
483341,20:57879317:A>G,NM_207034.2:c.365+2540A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,1.528,0.0014,1KG_AMR_AF,EDN3
483342,20:57879328:T>G,NM_207034.2:c.365+2551T>G,\N,\N,2/4,Unknown significance,\N,intron_variant,4.55,0.0038,1KG_AFR_AF,EDN3
483343,20:57879356:A>T,NM_207034.2:c.365+2579A>T,\N,\N,2/4,Unknown significance,\N,intron_variant,0.613,\N,\N,EDN3
483344,20:57879402:C>T,NM_207034.2:c.365+2625C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,1.958,\N,\N,EDN3
483345,20:57879422:C>T,NM_207034.2:c.365+2645C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,3.503,\N,\N,EDN3
483346,20:57879434:C>T,NM_207034.2:c.365+2657C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,0.705,0.001,1KG_EAS_AF|1KG_SAS_AF,EDN3
483347,20:57879435:G>A,NM_207034.2:c.365+2658G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,1.777,\N,\N,EDN3
483348,20:57879469:A>G,NM_207034.2:c.365+2692A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,0.194,\N,\N,EDN3
483349,20:57879471:C>T,NM_207034.2:c.365+2694C>T,\N,\N,2/4,Benign,\N,intron_variant,2.91,0.0212,1KG_AFR_AF,EDN3
483350,20:57879483:G>A,NM_207034.2:c.365+2706G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,1.307,\N,\N,EDN3
483351,20:57879495:C>G,NM_207034.2:c.365+2718C>G,\N,\N,2/4,Benign,\N,intron_variant,3.475,0.0408,1KG_AFR_AF,EDN3
483352,20:57879496:C>G,NM_207034.2:c.365+2719C>G,\N,\N,2/4,Unknown significance,\N,intron_variant,4.199,\N,\N,EDN3
483353,20:57879499:T>A,NM_207034.2:c.365+2722T>A,\N,\N,2/4,Benign,\N,intron_variant,7.224,0.0061,1KG_AFR_AF,EDN3
483354,20:57879505:C>T,NM_207034.2:c.365+2728C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,1.378,0.0008,1KG_AFR_AF,EDN3
483355,20:57879523:C>T,NM_207034.2:c.365+2746C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,4.093,0.0023,1KG_AFR_AF,EDN3
483356,20:57879571:G>C,NM_207034.2:c.365+2794G>C,\N,\N,2/4,Unknown significance,\N,intron_variant,0.609,0.0008,1KG_AFR_AF,EDN3
483357,20:57879593:C>T,NM_207034.2:c.365+2816C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,1.318,0.0014,1KG_AMR_AF,EDN3
483358,20:57879602:C>T,NM_207034.2:c.365+2825C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,4.334,0.0008,1KG_AFR_AF,EDN3
483359,20:57879604:A>T,NM_207034.2:c.365+2827A>T,\N,\N,2/4,Unknown significance,\N,intron_variant,0.532,0.0008,1KG_AFR_AF,EDN3
483360,20:57879608:C>T,NM_207034.2:c.365+2831C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,2.986,0.001,1KG_SAS_AF,EDN3
483361,20:57879638:A>C,NM_207034.2:c.365+2861A>C,\N,\N,2/4,Unknown significance,\N,intron_variant,0.063,0.001,1KG_EAS_AF,EDN3
483362,20:57879657:T>C,NM_207034.2:c.365+2880T>C,\N,\N,2/4,Unknown significance,\N,intron_variant,0.222,\N,\N,EDN3
483363,20:57879663:T>G,NM_207034.2:c.365+2886T>G,\N,\N,2/4,Benign,\N,intron_variant,0.225,0.0089,1KG_EUR_AF,EDN3
483364,20:57879673:T>C,NM_207034.2:c.365+2896T>C,\N,\N,2/4,Unknown significance,\N,intron_variant,2.5,0.001,1KG_EAS_AF,EDN3
483365,20:57879675:C>T,NM_207034.2:c.365+2898C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,0.399,0.0015,1KG_AFR_AF,EDN3
483366,20:57879676:G>T,NM_207034.2:c.365+2899G>T,\N,\N,2/4,Unknown significance,\N,intron_variant,0.771,\N,\N,EDN3
483367,20:57879694:C>G,NM_207034.2:c.365+2917C>G,\N,\N,2/4,Unknown significance,\N,intron_variant,0.088,0.0023,1KG_AFR_AF,EDN3
483368,20:57879695:G>A,NM_207034.2:c.365+2918G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,0.41,\N,\N,EDN3
483369,20:57879766:A>C,NM_207034.2:c.365+2989A>C,\N,\N,2/4,Unknown significance,\N,intron_variant,0.133,\N,\N,EDN3
483370,20:57879783:A>T,NM_207034.2:c.365+3006A>T,\N,\N,2/4,Unknown significance,\N,intron_variant,0.882,0.001,1KG_SAS_AF,EDN3
483371,20:57879843:G>A,NM_207034.2:c.365+3066G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,0.313,0.0008,1KG_AFR_AF,EDN3
483372,20:57879854:T>C,NM_207034.2:c.365+3077T>C,\N,\N,2/4,Unknown significance,\N,intron_variant,1.797,\N,\N,EDN3
483373,20:57879859:C>G,NM_207034.2:c.365+3082C>G,\N,\N,2/4,Unknown significance,\N,intron_variant,1.585,\N,\N,EDN3
483374,20:57879895:C>T,NM_207034.2:c.365+3118C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,2.66,\N,\N,EDN3
483375,20:57879904:T>G,NM_207034.2:c.365+3127T>G,\N,\N,2/4,Unknown significance,\N,intron_variant,5.256,0.001,1KG_EAS_AF,EDN3
483376,20:57879905:C>T,NM_207034.2:c.365+3128C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,2.567,\N,\N,EDN3
483377,20:57879906:G>A,NM_207034.2:c.365+3129G>A,\N,\N,2/4,Benign,\N,intron_variant,0.141,0.0113,1KG_AFR_AF,EDN3
483378,20:57880038:C>G,NM_207034.2:c.365+3261C>G,\N,\N,2/4,Unknown significance,\N,intron_variant,1.712,0.0008,1KG_AFR_AF,EDN3
483379,20:57880045:A>C,NM_207034.2:c.365+3268A>C,\N,\N,2/4,Unknown significance,\N,intron_variant,0.365,\N,\N,EDN3
483380,20:57880081:AG>A,NM_207034.2:c.365+3308del,\N,\N,2/4,Unknown significance,\N,intron_variant,\N,\N,\N,EDN3
483381,20:57880087:C>G,NM_207034.2:c.365+3310C>G,\N,\N,2/4,Unknown significance,\N,intron_variant,3.558,\N,\N,EDN3
483382,20:57880097:C>T,NM_207034.2:c.365+3320C>T,\N,\N,2/4,Benign,\N,intron_variant,4.191,0.0923,1KG_AFR_AF,EDN3
483383,20:57880130:G>A,NM_207034.2:c.365+3353G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,1.202,0.003,1KG_AFR_AF,EDN3
483384,20:57880143:A>C,NM_207034.2:c.365+3366A>C,\N,\N,2/4,Unknown significance,\N,intron_variant,1.649,\N,\N,EDN3
483385,20:57880152:G>T,NM_207034.2:c.365+3375G>T,\N,\N,2/4,Unknown significance,\N,intron_variant,0.632,\N,\N,EDN3
483386,20:57880179:C>T,NM_207034.2:c.365+3402C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,1.861,\N,\N,EDN3
483387,20:57880186:G>A,NM_207034.2:c.365+3409G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,3.232,\N,\N,EDN3
483388,20:57880220:TG>T,NM_207034.2:c.365+3446del,\N,\N,2/4,Unknown significance,\N,intron_variant,\N,\N,\N,EDN3
483389,20:57880239:T>C,NM_207034.2:c.365+3462T>C,\N,\N,2/4,Unknown significance,\N,intron_variant,2.04,\N,\N,EDN3
483390,20:57880270:T>C,NM_207034.2:c.365+3493T>C,\N,\N,2/4,Unknown significance,\N,intron_variant,0.597,0.003,1KG_EAS_AF,EDN3
483391,20:57880304:A>G,NM_207034.2:c.365+3527A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,1.129,0.0008,1KG_AFR_AF,EDN3
483392,20:57880378:A>G,NM_207034.2:c.365+3601A>G,\N,\N,2/4,Benign,\N,intron_variant,2.831,0.2451,1KG_AFR_AF,EDN3
483393,20:57880384:T>A,NM_207034.2:c.365+3607T>A,\N,\N,2/4,Unknown significance,\N,intron_variant,5.311,0.001,1KG_SAS_AF,EDN3
483394,20:57880416:G>A,NM_207034.2:c.365+3639G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,0.143,\N,\N,EDN3
483395,20:57880432:G>A,NM_207034.2:c.365+3655G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,2.395,0.0045,1KG_AFR_AF,EDN3
483396,20:57880436:A>G,NM_207034.2:c.365+3659A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,1.545,0.0015,1KG_AFR_AF,EDN3
483397,20:57880441:G>A,NM_207034.2:c.365+3664G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,1.32,0.002,1KG_EAS_AF,EDN3
483398,20:57880447:C>G,NM_207034.2:c.365+3670C>G,\N,\N,2/4,Unknown significance,\N,intron_variant,2.215,0.001,1KG_EAS_AF,EDN3
483399,20:57880461:C>T,NM_207034.2:c.365+3684C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,1.946,0.001,1KG_SAS_AF,EDN3
483400,20:57880472:G>T,NM_207034.2:c.365+3695G>T,\N,\N,2/4,Unknown significance,\N,intron_variant,1.158,0.0031,1KG_SAS_AF,EDN3
483401,20:57880476:C>T,NM_207034.2:c.365+3699C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,3.678,\N,\N,EDN3
483402,20:57880477:C>G,NM_207034.2:c.365+3700C>G,\N,\N,2/4,Unknown significance,\N,intron_variant,2.44,\N,\N,EDN3
483403,20:57880523:A>G,NM_207034.2:c.365+3746A>G,\N,\N,2/4,Benign,\N,intron_variant,1.71,0.0115,1KG_AMR_AF,EDN3
483404,20:57880572:G>A,NM_207034.2:c.365+3795G>A,\N,\N,2/4,Benign,\N,intron_variant,1.028,0.0053,1KG_AFR_AF,EDN3
483405,20:57880574:T>C,NM_207034.2:c.365+3797T>C,\N,\N,2/4,Unknown significance,\N,intron_variant,1.06,\N,\N,EDN3
483406,20:57880605:G>A,NM_207034.2:c.365+3828G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,4.48,\N,\N,EDN3
483407,20:57880617:T>C,NM_207034.2:c.365+3840T>C,\N,\N,2/4,Unknown significance,\N,intron_variant,0.888,\N,\N,EDN3
483408,20:57880618:T>C,NM_207034.2:c.365+3841T>C,\N,\N,2/4,Benign,\N,intron_variant,1.255,0.1067,1KG_AFR_AF,EDN3
483409,20:57880619:A>G,NM_207034.2:c.365+3842A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,0.214,0.001,1KG_EUR_AF,EDN3
483410,20:57880665:T>C,NM_207034.2:c.365+3888T>C,\N,\N,2/4,Benign,\N,intron_variant,1.319,0.0174,1KG_AFR_AF,EDN3
483411,20:57880673:G>A,NM_207034.2:c.365+3896G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,0.934,0.0008,1KG_AFR_AF,EDN3
483412,20:57880685:G>A,NM_207034.2:c.365+3908G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,1.786,0.0015,1KG_AFR_AF,EDN3
483413,20:57880700:T>C,NM_207034.2:c.365+3923T>C,\N,\N,2/4,Unknown significance,\N,intron_variant,0.079,\N,\N,EDN3
483414,20:57880735:A>G,NM_207034.2:c.365+3958A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,1.029,0.001,1KG_EAS_AF,EDN3
483415,20:57880736:T>TG,NM_207034.2:c.365+3959_365+3960insG,\N,\N,2/4,Unknown significance,\N,intron_variant,\N,\N,\N,EDN3
483416,20:57880741:A>G,NM_207034.2:c.365+3964A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,0.051,\N,\N,EDN3
483417,20:57880747:C>T,NM_207034.2:c.365+3970C>T,\N,\N,2/4,Benign,\N,intron_variant,0.284,0.0106,1KG_AFR_AF,EDN3
483418,20:57880763:C>T,NM_207034.2:c.365+3986C>T,\N,\N,2/4,Benign,\N,intron_variant,0.433,0.0231,1KG_AMR_AF,EDN3
483419,20:57880785:G>A,NM_207034.2:c.365+4008G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,3.895,\N,\N,EDN3
483420,20:57880811:C>T,NM_207034.2:c.365+4034C>T,\N,\N,2/4,Benign,\N,intron_variant,0.532,0.006,1KG_EUR_AF,EDN3
483421,20:57880812:G>A,NM_207034.2:c.365+4035G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,0.76,0.0008,1KG_AFR_AF,EDN3
483422,20:57880812:G>C,NM_207034.2:c.365+4035G>C,\N,\N,2/4,Unknown significance,\N,intron_variant,0.13,\N,\N,EDN3
483423,20:57880838:C>T,NM_207034.2:c.365+4061C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,1.336,\N,\N,EDN3
483424,20:57880873:G>C,NM_207034.2:c.365+4096G>C,\N,\N,2/4,Unknown significance,\N,intron_variant,0.831,\N,\N,EDN3
483425,20:57880982:T>G,NM_207034.2:c.365+4205T>G,\N,\N,2/4,Benign,\N,intron_variant,3.379,0.3026,1KG_AFR_AF,EDN3
483426,20:57880983:C>T,NM_207034.2:c.365+4206C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,2.315,0.001,1KG_EAS_AF,EDN3
483427,20:57881016:C>T,NM_207034.2:c.365+4239C>T,\N,\N,2/4,Benign,\N,intron_variant,4.07,0.0673,1KG_AFR_AF,EDN3
483428,20:57881030:C>T,NM_207034.2:c.365+4253C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,5.26,0.001,1KG_EUR_AF,EDN3
483429,20:57881048:G>A,NM_207034.2:c.365+4271G>A,\N,\N,2/4,Benign,\N,intron_variant,2.403,0.087,1KG_AFR_AF,EDN3
483430,20:57881051:C>T,NM_207034.2:c.365+4274C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,3.031,0.0008,1KG_AFR_AF,EDN3
483431,20:57881150:G>A,NM_207034.2:c.365+4373G>A,\N,\N,2/4,Benign,\N,intron_variant,1.404,0.006,1KG_EAS_AF,EDN3
483432,20:57881152:C>G,NM_207034.2:c.365+4375C>G,\N,\N,2/4,Unknown significance,\N,intron_variant,2.589,0.0008,1KG_AFR_AF,EDN3
483433,20:57881166:G>A,NM_207034.2:c.365+4389G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,3.423,\N,\N,EDN3
483434,20:57881208:G>A,NM_207034.2:c.365+4431G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,1.986,0.001,1KG_SAS_AF,EDN3
483435,20:57881235:T>C,NM_207034.2:c.365+4458T>C,\N,\N,2/4,Unknown significance,\N,intron_variant,1.381,\N,\N,EDN3
483436,20:57881301:C>A,NM_207034.2:c.365+4524C>A,\N,\N,2/4,Unknown significance,\N,intron_variant,7.786,0.0038,1KG_AFR_AF,EDN3
483437,20:57881308:T>C,NM_207034.2:c.365+4531T>C,\N,\N,2/4,Unknown significance,\N,intron_variant,5.831,\N,\N,EDN3
483438,20:57881318:T>C,NM_207034.2:c.365+4541T>C,\N,\N,2/4,Unknown significance,\N,intron_variant,1.934,\N,\N,EDN3
483439,20:57881346:A>T,NM_207034.2:c.365+4569A>T,\N,\N,2/4,Unknown significance,\N,intron_variant,2.166,\N,\N,EDN3
483440,20:57881351:C>T,NM_207034.2:c.365+4574C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,1.015,\N,\N,EDN3
483441,20:57881442:G>T,NM_207034.2:c.365+4665G>T,\N,\N,2/4,Unknown significance,\N,intron_variant,0.468,0.001,1KG_EAS_AF,EDN3
483442,20:57881479:C>T,NM_207034.2:c.365+4702C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,2.276,0.0023,1KG_AFR_AF,EDN3
483443,20:57881480:G>A,NM_207034.2:c.365+4703G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,1.452,0.0045,1KG_AFR_AF,EDN3
483444,20:57881496:C>G,NM_207034.2:c.365+4719C>G,\N,\N,2/4,Benign,\N,intron_variant,4.094,0.0068,1KG_AFR_AF,EDN3
483445,20:57881505:C>A,NM_207034.2:c.365+4728C>A,\N,\N,2/4,Benign,\N,intron_variant,3.834,0.0076,1KG_AFR_AF,EDN3
483446,20:57881527:A>C,NM_207034.2:c.365+4750A>C,\N,\N,2/4,Unknown significance,\N,intron_variant,0.464,\N,\N,EDN3
483447,20:57881553:C>T,NM_207034.2:c.365+4776C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,1.199,0.0029,1KG_AMR_AF,EDN3
483448,20:57881562:A>G,NM_207034.2:c.365+4785A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,1.197,0.0008,1KG_AFR_AF,EDN3
483449,20:57881595:T>G,NM_207034.2:c.365+4818T>G,\N,\N,2/4,Unknown significance,\N,intron_variant,5.252,\N,\N,EDN3
483450,20:57881614:C>T,NM_207034.2:c.365+4837C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,6.878,\N,\N,EDN3
483451,20:57881647:G>A,NM_207034.2:c.365+4870G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,0.767,\N,\N,EDN3
483452,20:57881649:G>A,NM_207034.2:c.365+4872G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,1.989,\N,\N,EDN3
483453,20:57881649:GTAAAAAA>G,NM_207034.2:c.365+4873_365+4879del,\N,\N,2/4,Unknown significance,\N,intron_variant,\N,\N,\N,EDN3
483454,20:57881649:GTAAAAAAA>G,NM_207034.2:c.365+4873_365+4880del,\N,\N,2/4,Unknown significance,\N,intron_variant,\N,\N,\N,EDN3
483455,20:57881650:T>A,NM_207034.2:c.365+4873T>A,\N,\N,2/4,Unknown significance,\N,intron_variant,2.62,\N,\N,EDN3
483456,20:57881650:TAAA>T,NM_207034.2:c.365+4895_365+4897del,\N,\N,2/4,Unknown significance,\N,intron_variant,\N,\N,\N,EDN3
483457,20:57881650:TAAAAAAA>T,NM_207034.2:c.365+4891_365+4897del,\N,\N,2/4,Benign,\N,intron_variant,2.944,0.4078,1KG_AMR_AF,EDN3
483458,20:57881661:A>C,NM_207034.2:c.365+4884A>C,\N,\N,2/4,Unknown significance,\N,intron_variant,0.01,0.0029,1KG_AMR_AF,EDN3
483459,20:57881682:C>A,NM_207034.2:c.365+4905C>A,\N,\N,2/4,Unknown significance,\N,intron_variant,7.069,\N,\N,EDN3
483460,20:57881736:A>G,NM_207034.2:c.365+4959A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,2.036,0.0015,1KG_AFR_AF,EDN3
483461,20:57881775:TCTTGGC>T,NM_207034.2:c.365+4999_365+5004del,\N,\N,2/4,Benign,\N,intron_variant,4.401,0.0053,1KG_AFR_AF,EDN3
483462,20:57881780:G>A,NM_207034.2:c.365+5003G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,3.416,0.0031,1KG_SAS_AF,EDN3
483463,20:57881783:T>C,NM_207034.2:c.365+5006T>C,\N,\N,2/4,Unknown significance,\N,intron_variant,0.273,0.0008,1KG_AFR_AF,EDN3
483464,20:57881797:G>A,NM_207034.2:c.365+5020G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,4.243,\N,\N,EDN3
483465,20:57881822:A>G,NM_207034.2:c.365+5045A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,1.637,0.001,1KG_SAS_AF,EDN3
483466,20:57881829:C>T,NM_207034.2:c.365+5052C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,1.108,\N,\N,EDN3
483467,20:57881871:G>A,NM_207034.2:c.365+5094G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,6.185,\N,\N,EDN3
483468,20:57881874:G>C,NM_207034.2:c.365+5097G>C,\N,\N,2/4,Unknown significance,\N,intron_variant,0.199,0.0008,1KG_AFR_AF,EDN3
483469,20:57881882:G>GA,NM_207034.2:c.365+5107dup,\N,\N,2/4,Unknown significance,\N,intron_variant,\N,\N,\N,EDN3
483470,20:57881898:T>C,NM_207034.2:c.365+5121T>C,\N,\N,2/4,Unknown significance,\N,intron_variant,2.933,0.001,1KG_EUR_AF,EDN3
483471,20:57881901:C>T,NM_207034.2:c.365+5124C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,1.317,\N,\N,EDN3
483472,20:57881924:G>T,NM_207034.2:c.365+5147G>T,\N,\N,2/4,Unknown significance,\N,intron_variant,0.382,0.001,1KG_EUR_AF,EDN3
483473,20:57881925:C>T,NM_207034.2:c.365+5148C>T,\N,\N,2/4,Benign,\N,intron_variant,0.143,0.0188,1KG_EAS_AF,EDN3
483474,20:57881932:G>A,NM_207034.2:c.365+5155G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,0.71,\N,\N,EDN3
483475,20:57881939:C>A,NM_207034.2:c.365+5162C>A,\N,\N,2/4,Benign,\N,intron_variant,2.318,0.0174,1KG_AFR_AF,EDN3
483476,20:57881947:C>T,NM_207034.2:c.365+5170C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,3.086,0.0015,1KG_AFR_AF,EDN3
483477,20:57881977:A>G,NM_207034.2:c.365+5200A>G,\N,\N,2/4,Benign,\N,intron_variant,7.005,0.0673,1KG_AFR_AF,EDN3
483478,20:57882006:C>T,NM_207034.2:c.365+5229C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,1.855,\N,\N,EDN3
483479,20:57882015:C>T,NM_207034.2:c.365+5238C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,1.379,\N,\N,EDN3
483480,20:57882057:A>G,NM_207034.2:c.365+5280A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,0.286,0.001,1KG_EAS_AF,EDN3
483481,20:57882082:C>T,NM_207034.2:c.365+5305C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,1.776,\N,\N,EDN3
483482,20:57882087:C>T,NM_207034.2:c.365+5310C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,1.525,0.001,1KG_EAS_AF,EDN3
483483,20:57882127:G>C,NM_207034.2:c.365+5350G>C,\N,\N,2/4,Unknown significance,\N,intron_variant,0.35,0.001,1KG_EUR_AF,EDN3
483484,20:57882152:A>G,NM_207034.2:c.365+5375A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,1.587,\N,\N,EDN3
483485,20:57882173:C>G,NM_207034.2:c.365+5396C>G,\N,\N,2/4,Unknown significance,\N,intron_variant,3.815,\N,\N,EDN3
483486,20:57882185:C>G,NM_207034.2:c.365+5408C>G,\N,\N,2/4,Benign,\N,intron_variant,1.099,0.3011,1KG_AFR_AF,EDN3
483487,20:57882242:G>A,NM_207034.2:c.365+5465G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,2.824,0.001,1KG_SAS_AF,EDN3
483488,20:57882258:T>C,NM_207034.2:c.365+5481T>C,\N,\N,2/4,Unknown significance,\N,intron_variant,0.255,0.0023,1KG_AFR_AF,EDN3
483489,20:57882269:G>A,NM_207034.2:c.365+5492G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,1.316,\N,\N,EDN3
483490,20:57882282:A>G,NM_207034.2:c.365+5505A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,1.596,\N,\N,EDN3
483491,20:57882285:C>A,NM_207034.2:c.365+5508C>A,\N,\N,2/4,Unknown significance,\N,intron_variant,2.651,0.001,1KG_EAS_AF,EDN3
483492,20:57882328:C>CATGCCAAGCATG,NM_207034.2:c.365+5551_365+5552insATGCCAAGCATG,\N,\N,2/4,Unknown significance,\N,intron_variant,\N,\N,\N,EDN3
483493,20:57882330:A>G,NM_207034.2:c.365+5553A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,0.065,0.001,1KG_SAS_AF,EDN3
483494,20:57882335:T>TCATGATGCCAAG,NM_207034.2:c.365+5562_365+5563insATGCCAAGCATG,\N,\N,2/4,Benign,\N,intron_variant,0.157,0.3011,1KG_AFR_AF,EDN3
483495,20:57882407:T>C,NM_207034.2:c.365+5630T>C,\N,\N,2/4,Unknown significance,\N,intron_variant,2.229,0.001,1KG_SAS_AF,EDN3
483496,20:57882428:T>C,NM_207034.2:c.365+5651T>C,\N,\N,2/4,Unknown significance,\N,intron_variant,1.994,\N,\N,EDN3
483497,20:57882458:A>G,NM_207034.2:c.365+5681A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,1.076,0.001,1KG_SAS_AF,EDN3
483498,20:57882461:C>T,NM_207034.2:c.365+5684C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,2.343,\N,\N,EDN3
483499,20:57882510:C>T,NM_207034.2:c.365+5733C>T,\N,\N,2/4,Benign,\N,intron_variant,4.977,0.0386,1KG_AFR_AF,EDN3
483500,20:57882532:A>G,NM_207034.2:c.365+5755A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,0.922,0.002,1KG_SAS_AF,EDN3
483501,20:57882535:C>T,NM_207034.2:c.365+5758C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,0.678,\N,\N,EDN3
483502,20:57882565:G>A,NM_207034.2:c.365+5788G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,0.18,0.0014,1KG_AMR_AF,EDN3
483503,20:57882572:A>G,NM_207034.2:c.365+5795A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,0.723,\N,\N,EDN3
483504,20:57882591:C>T,NM_207034.2:c.365+5814C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,2.366,\N,\N,EDN3
483505,20:57882615:C>T,NM_207034.2:c.365+5838C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,2.78,0.0015,1KG_AFR_AF,EDN3
483506,20:57882664:G>C,NM_207034.2:c.365+5887G>C,\N,\N,2/4,Unknown significance,\N,intron_variant,1.107,0.0008,1KG_AFR_AF,EDN3
483507,20:57882667:T>C,NM_207034.2:c.365+5890T>C,\N,\N,2/4,Unknown significance,\N,intron_variant,0.352,\N,\N,EDN3
483508,20:57882690:G>C,NM_207034.2:c.365+5913G>C,\N,\N,2/4,Unknown significance,\N,intron_variant,0.115,\N,\N,EDN3
483509,20:57882708:G>T,NM_207034.2:c.365+5931G>T,\N,\N,2/4,Benign,\N,intron_variant,0.532,0.0098,1KG_AFR_AF,EDN3
483510,20:57882716:T>A,NM_207034.2:c.365+5939T>A,\N,\N,2/4,Unknown significance,\N,intron_variant,2.034,0.001,1KG_EUR_AF,EDN3
483511,20:57882719:G>A,NM_207034.2:c.365+5942G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,0.312,0.001,1KG_EUR_AF,EDN3
483512,20:57882725:G>T,NM_207034.2:c.365+5948G>T,\N,\N,2/4,Unknown significance,\N,intron_variant,1.384,0.0015,1KG_AFR_AF,EDN3
483513,20:57882756:G>A,NM_207034.2:c.365+5979G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,1.82,\N,\N,EDN3
483514,20:57882771:G>A,NM_207034.2:c.365+5994G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,1.561,0.002,1KG_EAS_AF,EDN3
483515,20:57882806:A>G,NM_207034.2:c.365+6029A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,2.483,\N,\N,EDN3
483516,20:57882815:T>G,NM_207034.2:c.365+6038T>G,\N,\N,2/4,Unknown significance,\N,intron_variant,0.731,\N,\N,EDN3
483517,20:57882830:C>T,NM_207034.2:c.365+6053C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,3.231,\N,\N,EDN3
483518,20:57882857:G>A,NM_207034.2:c.365+6080G>A,\N,\N,2/4,Benign,\N,intron_variant,0.419,0.0567,1KG_EUR_AF,EDN3
483519,20:57882874:G>C,NM_207034.2:c.365+6097G>C,\N,\N,2/4,Unknown significance,\N,intron_variant,0.4,\N,\N,EDN3
483520,20:57882878:C>T,NM_207034.2:c.365+6101C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,0.577,0.0045,1KG_AFR_AF,EDN3
483521,20:57882888:T>G,NM_207034.2:c.365+6111T>G,\N,\N,2/4,Unknown significance,\N,intron_variant,2.19,0.001,1KG_SAS_AF,EDN3
483522,20:57882906:A>AT,NM_207034.2:c.365+6144dup,\N,\N,2/4,Unknown significance,\N,intron_variant,0.131,\N,\N,EDN3
483523,20:57882906:A>ATT,NM_207034.2:c.365+6143_365+6144dup,\N,\N,2/4,Unknown significance,\N,intron_variant,0.12,\N,\N,EDN3
483524,20:57882906:AT>A,NM_207034.2:c.365+6144del,\N,\N,2/4,Benign,\N,intron_variant,0.07,0.2975,1KG_SAS_AF,EDN3
483525,20:57882921:TG>T,NM_207034.2:c.365+6145del,\N,\N,2/4,Unknown significance,\N,intron_variant,\N,\N,\N,EDN3
483526,20:57882930:C>T,NM_207034.2:c.365+6153C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,1.288,\N,\N,EDN3
483527,20:57882943:A>G,NM_207034.2:c.365+6166A>G,\N,\N,2/4,Benign,\N,intron_variant,0.196,0.0416,1KG_AFR_AF,EDN3
483528,20:57882945:T>C,NM_207034.2:c.365+6168T>C,\N,\N,2/4,Unknown significance,\N,intron_variant,2.194,0.001,1KG_EUR_AF,EDN3
483529,20:57882979:A>T,NM_207034.2:c.365+6202A>T,\N,\N,2/4,Unknown significance,\N,intron_variant,0.225,0.0008,1KG_AFR_AF,EDN3
483530,20:57882985:C>CAT,NM_207034.2:c.365+6216_365+6217dup,\N,\N,2/4,Benign,\N,intron_variant,1.936,0.093,1KG_AFR_AF,EDN3
483531,20:57882996:T>C,NM_207034.2:c.365+6219T>C,\N,\N,2/4,Unknown significance,\N,intron_variant,0.681,\N,\N,EDN3
483532,20:57883044:A>G,NM_207034.2:c.365+6267A>G,\N,\N,2/4,Benign,\N,intron_variant,0.568,0.0703,1KG_AFR_AF,EDN3
483533,20:57883046:A>G,NM_207034.2:c.365+6269A>G,\N,\N,2/4,Benign,\N,intron_variant,1.1,0.0129,1KG_AFR_AF,EDN3
483534,20:57883056:A>C,NM_207034.2:c.365+6279A>C,\N,\N,2/4,Unknown significance,\N,intron_variant,0.181,\N,\N,EDN3
483535,20:57883086:C>T,NM_207034.2:c.365+6309C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,2.53,0.0015,1KG_AFR_AF,EDN3
483536,20:57883218:A>G,NM_207034.2:c.365+6441A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,2.321,\N,\N,EDN3
483537,20:57883231:T>C,NM_207034.2:c.365+6454T>C,\N,\N,2/4,Benign,\N,intron_variant,2.489,0.0325,1KG_AFR_AF,EDN3
483538,20:57883272:G>T,NM_207034.2:c.365+6495G>T,\N,\N,2/4,Unknown significance,\N,intron_variant,0.578,\N,\N,EDN3
483539,20:57883274:C>T,NM_207034.2:c.365+6497C>T,\N,\N,2/4,Benign,\N,intron_variant,3.318,0.0083,1KG_AFR_AF,EDN3
483540,20:57883275:G>A,NM_207034.2:c.365+6498G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,2.267,\N,\N,EDN3
483541,20:57883282:C>T,NM_207034.2:c.365+6505C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,1.496,\N,\N,EDN3
483542,20:57883301:G>A,NM_207034.2:c.365+6524G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,1.582,0.0008,1KG_AFR_AF,EDN3
483543,20:57883302:A>T,NM_207034.2:c.365+6525A>T,\N,\N,2/4,Unknown significance,\N,intron_variant,0.667,\N,\N,EDN3
483544,20:57883309:T>A,NM_207034.2:c.365+6532T>A,\N,\N,2/4,Unknown significance,\N,intron_variant,5.652,\N,\N,EDN3
483545,20:57883320:G>A,NM_207034.2:c.365+6543G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,5.694,\N,\N,EDN3
483546,20:57883322:A>G,NM_207034.2:c.365+6545A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,2.379,\N,\N,EDN3
483547,20:57883334:T>C,NM_207034.2:c.365+6557T>C,\N,\N,2/4,Benign,\N,intron_variant,0.848,0.0992,1KG_EAS_AF,EDN3
483548,20:57883422:A>T,NM_207034.2:c.365+6645A>T,\N,\N,2/4,Unknown significance,\N,intron_variant,0.643,0.002,1KG_EAS_AF,EDN3
483549,20:57883426:A>T,NM_207034.2:c.365+6649A>T,\N,\N,2/4,Unknown significance,\N,intron_variant,2.338,0.002,1KG_EAS_AF,EDN3
483550,20:57883430:C>T,NM_207034.2:c.365+6653C>T,\N,\N,2/4,Benign,\N,intron_variant,2.872,0.0129,1KG_EUR_AF,EDN3
483551,20:57883460:T>A,NM_207034.2:c.365+6683T>A,\N,\N,2/4,Unknown significance,\N,intron_variant,4.32,0.0014,1KG_AMR_AF,EDN3
483552,20:57883502:C>T,NM_207034.2:c.365+6725C>T,\N,\N,2/4,Benign,\N,intron_variant,1.741,0.0174,1KG_AFR_AF,EDN3
483553,20:57883512:A>G,NM_207034.2:c.365+6735A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,0.452,0.001,1KG_SAS_AF,EDN3
483554,20:57883521:G>A,NM_207034.2:c.365+6744G>A,\N,\N,2/4,Benign,\N,intron_variant,0.557,0.0378,1KG_AFR_AF,EDN3
483555,20:57883540:C>T,NM_207034.2:c.365+6763C>T,\N,\N,2/4,Benign,\N,intron_variant,2.409,0.0696,1KG_AFR_AF,EDN3
483556,20:57883573:C>A,NM_207034.2:c.365+6796C>A,\N,\N,2/4,Benign,\N,intron_variant,2.096,0.008,1KG_EUR_AF,EDN3
483557,20:57883573:C>T,NM_207034.2:c.365+6796C>T,\N,\N,2/4,Benign,\N,intron_variant,2.259,0.2776,1KG_AFR_AF,EDN3
483558,20:57883574:G>A,NM_207034.2:c.365+6797G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,0.386,\N,\N,EDN3
483559,20:57883584:G>A,NM_207034.2:c.365+6807G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,6.733,0.0008,1KG_AFR_AF,EDN3
483560,20:57883601:C>A,NM_207034.2:c.365+6824C>A,\N,\N,2/4,Benign,\N,intron_variant,2.957,0.0199,1KG_EUR_AF,EDN3
483561,20:57883614:G>T,NM_207034.2:c.365+6837G>T,\N,\N,2/4,Unknown significance,\N,intron_variant,0.298,\N,\N,EDN3
483562,20:57883656:G>A,NM_207034.2:c.365+6879G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,2.171,\N,\N,EDN3
483563,20:57883668:C>T,NM_207034.2:c.365+6891C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,2.059,0.0015,1KG_AFR_AF,EDN3
483564,20:57883672:A>G,NM_207034.2:c.365+6895A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,1.721,\N,\N,EDN3
483565,20:57883675:A>T,NM_207034.2:c.365+6898A>T,\N,\N,2/4,Unknown significance,\N,intron_variant,1.972,0.0014,1KG_AMR_AF,EDN3
483566,20:57883676:G>A,NM_207034.2:c.365+6899G>A,\N,\N,2/4,Benign,\N,intron_variant,4.193,0.0072,1KG_SAS_AF,EDN3
483567,20:57883706:G>T,NM_207034.2:c.365+6929G>T,\N,\N,2/4,Unknown significance,\N,intron_variant,2.395,\N,\N,EDN3
483568,20:57883712:A>C,NM_207034.2:c.365+6935A>C,\N,\N,2/4,Benign,\N,intron_variant,0.909,0.0083,1KG_AFR_AF,EDN3
483569,20:57883713:G>A,NM_207034.2:c.365+6936G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,5.181,0.0023,1KG_AFR_AF,EDN3
483570,20:57883730:C>T,NM_207034.2:c.365+6953C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,0.67,0.0008,1KG_AFR_AF,EDN3
483571,20:57883742:A>G,NM_207034.2:c.365+6965A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,3.688,\N,\N,EDN3
483572,20:57883754:A>T,NM_207034.2:c.365+6977A>T,\N,\N,2/4,Unknown significance,\N,intron_variant,1.534,0.001,1KG_SAS_AF,EDN3
483573,20:57883755:C>T,NM_207034.2:c.365+6978C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,1.04,0.0014,1KG_AMR_AF,EDN3
483574,20:57883815:C>T,NM_207034.2:c.365+7038C>T,\N,\N,2/4,Benign,\N,intron_variant,5.272,0.5053,1KG_AFR_AF,EDN3
483575,20:57883822:C>CA,NM_207034.2:c.365+7049dup,\N,\N,2/4,Unknown significance,\N,intron_variant,\N,\N,\N,EDN3
483576,20:57883828:C>T,NM_207034.2:c.365+7051C>T,\N,\N,2/4,Benign,\N,intron_variant,1.615,0.0174,1KG_AFR_AF,EDN3
483577,20:57883851:C>T,NM_207034.2:c.365+7074C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,4.449,0.002,1KG_SAS_AF,EDN3
483578,20:57883859:G>A,NM_207034.2:c.365+7082G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,2.673,\N,\N,EDN3
483579,20:57883892:C>G,NM_207034.2:c.365+7115C>G,\N,\N,2/4,Unknown significance,\N,intron_variant,2.371,\N,\N,EDN3
483580,20:57883932:T>G,NM_207034.2:c.365+7155T>G,\N,\N,2/4,Unknown significance,\N,intron_variant,1.909,0.001,1KG_EAS_AF,EDN3
483581,20:57883960:A>G,NM_207034.2:c.365+7183A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,1.844,\N,\N,EDN3
483582,20:57883976:C>CT,NM_207034.2:c.365+7200dup,\N,\N,2/4,Unknown significance,\N,intron_variant,\N,\N,\N,EDN3
483583,20:57883978:G>A,NM_207034.2:c.365+7201G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,1.248,\N,\N,EDN3
483584,20:57883986:C>A,NM_207034.2:c.365+7209C>A,\N,\N,2/4,Benign,\N,intron_variant,4.055,0.1263,1KG_AFR_AF,EDN3
483585,20:57883991:C>T,NM_207034.2:c.365+7214C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,5.125,\N,\N,EDN3
483586,20:57884026:ACT>A,NM_207034.2:c.365+7252_365+7253del,\N,\N,2/4,Unknown significance,\N,intron_variant,\N,\N,\N,EDN3
483587,20:57884076:G>C,NM_207034.2:c.365+7299G>C,\N,\N,2/4,Unknown significance,\N,intron_variant,5.683,\N,\N,EDN3
483588,20:57884098:G>GT,NM_207034.2:c.365+7323dup,\N,\N,2/4,Unknown significance,\N,intron_variant,\N,\N,\N,EDN3
483589,20:57884103:T>A,NM_207034.2:c.365+7326T>A,\N,\N,2/4,Unknown significance,\N,intron_variant,6.723,\N,\N,EDN3
483590,20:57884126:C>T,NM_207034.2:c.365+7349C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,0.517,0.0015,1KG_AFR_AF,EDN3
483591,20:57884128:C>T,NM_207034.2:c.365+7351C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,6.001,\N,\N,EDN3
483592,20:57884170:C>A,NM_207034.2:c.365+7393C>A,\N,\N,2/4,Unknown significance,\N,intron_variant,0.547,\N,\N,EDN3
483593,20:57884184:C>G,NM_207034.2:c.365+7407C>G,\N,\N,2/4,Unknown significance,\N,intron_variant,0.181,\N,\N,EDN3
483594,20:57884200:A>G,NM_207034.2:c.365+7423A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,0.455,\N,\N,EDN3
483595,20:57884205:G>T,NM_207034.2:c.365+7428G>T,\N,\N,2/4,Unknown significance,\N,intron_variant,1.241,\N,\N,EDN3
483596,20:57884211:C>T,NM_207034.2:c.365+7434C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,0.279,\N,\N,EDN3
483597,20:57884212:G>A,NM_207034.2:c.365+7435G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,2.074,\N,\N,EDN3
483598,20:57884220:C>T,NM_207034.2:c.365+7443C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,1.146,0.0038,1KG_AFR_AF,EDN3
483599,20:57884229:G>T,NM_207034.2:c.365+7452G>T,\N,\N,2/4,Unknown significance,\N,intron_variant,0.975,0.001,1KG_SAS_AF,EDN3
483600,20:57884239:G>C,NM_207034.2:c.365+7462G>C,\N,\N,2/4,Unknown significance,\N,intron_variant,0.397,0.0023,1KG_AFR_AF,EDN3
483601,20:57884251:T>C,NM_207034.2:c.365+7474T>C,\N,\N,2/4,Benign,\N,intron_variant,3.685,0.335,1KG_EUR_AF,EDN3
483602,20:57884261:G>A,NM_207034.2:c.365+7484G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,6.611,0.0008,1KG_AFR_AF,EDN3
483603,20:57884354:G>A,NM_207034.2:c.365+7577G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,3.141,\N,\N,EDN3
483604,20:57884372:G>T,NM_207034.2:c.365+7595G>T,\N,\N,2/4,Unknown significance,\N,intron_variant,0.158,\N,\N,EDN3
483605,20:57884383:G>A,NM_207034.2:c.365+7606G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,1.578,0.001,1KG_EAS_AF,EDN3
483606,20:57884443:T>G,NM_207034.2:c.365+7666T>G,\N,\N,2/4,Unknown significance,\N,intron_variant,2.587,0.001,1KG_EUR_AF,EDN3
483607,20:57884463:C>T,NM_207034.2:c.365+7686C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,2.542,\N,\N,EDN3
483608,20:57884495:A>G,NM_207034.2:c.365+7718A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,2.787,\N,\N,EDN3
483609,20:57884496:C>A,NM_207034.2:c.365+7719C>A,\N,\N,2/4,Unknown significance,\N,intron_variant,2.341,0.001,1KG_SAS_AF,EDN3
483610,20:57884501:T>C,NM_207034.2:c.365+7724T>C,\N,\N,2/4,Benign,\N,intron_variant,0.28,0.5129,1KG_AFR_AF,EDN3
483611,20:57884556:T>C,NM_207034.2:c.365+7779T>C,\N,\N,2/4,Unknown significance,\N,intron_variant,1.927,0.0008,1KG_AFR_AF,EDN3
483612,20:57884580:C>T,NM_207034.2:c.365+7803C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,1.402,0.0008,1KG_AFR_AF,EDN3
483613,20:57884601:T>C,NM_207034.2:c.365+7824T>C,\N,\N,2/4,Benign,\N,intron_variant,1.486,0.0317,1KG_AMR_AF,EDN3
483614,20:57884612:T>C,NM_207034.2:c.365+7835T>C,\N,\N,2/4,Unknown significance,\N,intron_variant,0.458,0.001,1KG_EUR_AF,EDN3
483615,20:57884620:G>A,NM_207034.2:c.365+7843G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,2.895,0.0031,1KG_SAS_AF,EDN3
483616,20:57884626:G>C,NM_207034.2:c.365+7849G>C,\N,\N,2/4,Unknown significance,\N,intron_variant,0.661,\N,\N,EDN3
483617,20:57884632:G>A,NM_207034.2:c.365+7855G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,0.824,0.0014,1KG_AMR_AF,EDN3
483618,20:57884649:T>C,NM_207034.2:c.365+7872T>C,\N,\N,2/4,Unknown significance,\N,intron_variant,0.56,0.001,1KG_SAS_AF,EDN3
483619,20:57884659:A>G,NM_207034.2:c.365+7882A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,0.741,\N,\N,EDN3
483620,20:57884662:T>C,NM_207034.2:c.365+7885T>C,\N,\N,2/4,Unknown significance,\N,intron_variant,1.052,0.0014,1KG_AMR_AF,EDN3
483621,20:57884670:CT>C,NM_207034.2:c.365+7894del,\N,\N,2/4,Unknown significance,\N,intron_variant,\N,\N,\N,EDN3
483622,20:57884762:C>T,NM_207034.2:c.365+7985C>T,\N,\N,2/4,Benign,\N,intron_variant,0.152,0.8631,1KG_EAS_AF,EDN3
483623,20:57884768:G>T,NM_207034.2:c.365+7991G>T,\N,\N,2/4,Unknown significance,\N,intron_variant,0.788,\N,\N,EDN3
483624,20:57884783:T>C,NM_207034.2:c.365+8006T>C,\N,\N,2/4,Unknown significance,\N,intron_variant,1.943,0.001,1KG_EAS_AF,EDN3
483625,20:57884798:G>T,NM_207034.2:c.365+8021G>T,\N,\N,2/4,Unknown significance,\N,intron_variant,2.074,0.0008,1KG_AFR_AF,EDN3
483626,20:57884807:C>T,NM_207034.2:c.365+8030C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,2.348,0.004,1KG_EUR_AF,EDN3
483627,20:57884825:T>C,NM_207034.2:c.365+8048T>C,\N,\N,2/4,Unknown significance,\N,intron_variant,3.528,0.0014,1KG_AMR_AF,EDN3
483628,20:57884872:C>T,NM_207034.2:c.365+8095C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,1.759,\N,\N,EDN3
483629,20:57884883:C>T,NM_207034.2:c.365+8106C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,3.854,\N,\N,EDN3
483630,20:57884917:C>G,NM_207034.2:c.365+8140C>G,\N,\N,2/4,Unknown significance,\N,intron_variant,2.452,0.001,1KG_SAS_AF,EDN3
483631,20:57884966:G>A,NM_207034.2:c.365+8189G>A,\N,\N,2/4,Benign,\N,intron_variant,2.71,0.5121,1KG_AFR_AF,EDN3
483632,20:57884975:G>T,NM_207034.2:c.365+8198G>T,\N,\N,2/4,Unknown significance,\N,intron_variant,0.494,0.0014,1KG_AMR_AF,EDN3
483633,20:57885013:A>G,NM_207034.2:c.365+8236A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,10.68,\N,\N,EDN3
483634,20:57885042:G>A,NM_207034.2:c.365+8265G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,0.475,0.0008,1KG_AFR_AF,EDN3
483635,20:57885088:G>A,NM_207034.2:c.365+8311G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,7.326,0.0014,1KG_AMR_AF,EDN3
483636,20:57885109:A>G,NM_207034.2:c.365+8332A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,19.81,0.0014,1KG_AMR_AF,EDN3
483637,20:57885119:A>G,NM_207034.2:c.365+8342A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,19.86,0.0045,1KG_AFR_AF,EDN3
483638,20:57885130:G>A,NM_207034.2:c.365+8353G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,14.1,\N,\N,EDN3
483639,20:57885134:C>A,NM_207034.2:c.365+8357C>A,\N,\N,2/4,Benign,\N,intron_variant,13.32,0.0873,1KG_EAS_AF,EDN3
483640,20:57885151:T>C,NM_207034.2:c.365+8374T>C,\N,\N,2/4,Unknown significance,\N,intron_variant,13.74,0.002,1KG_SAS_AF,EDN3
483641,20:57885189:A>G,NM_207034.2:c.365+8412A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,11.31,0.002,1KG_EAS_AF,EDN3
483642,20:57885219:C>T,NM_207034.2:c.365+8442C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,1.897,0.001,1KG_SAS_AF,EDN3
483643,20:57885230:G>A,NM_207034.2:c.365+8453G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,1.518,\N,\N,EDN3
483644,20:57885252:C>G,NM_207034.2:c.365+8475C>G,\N,\N,2/4,Unknown significance,\N,intron_variant,2.571,\N,\N,EDN3
483645,20:57885255:C>T,NM_207034.2:c.365+8478C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,1.493,0.0014,1KG_AMR_AF,EDN3
483646,20:57885268:C>T,NM_207034.2:c.365+8491C>T,\N,\N,2/4,Benign,\N,intron_variant,0.301,0.0079,1KG_EAS_AF,EDN3
483647,20:57885282:G>A,NM_207034.2:c.365+8505G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,3.425,0.001,1KG_EAS_AF,EDN3
483648,20:57885306:A>C,NM_207034.2:c.365+8529A>C,\N,\N,2/4,Unknown significance,\N,intron_variant,2.043,0.0015,1KG_AFR_AF,EDN3
483649,20:57885338:T>C,NM_207034.2:c.365+8561T>C,\N,\N,2/4,Unknown significance,\N,intron_variant,0.433,0.0014,1KG_AMR_AF,EDN3
483650,20:57885345:G>A,NM_207034.2:c.365+8568G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,1.724,0.0014,1KG_AMR_AF,EDN3
483651,20:57885363:A>G,NM_207034.2:c.365+8586A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,3.018,0.0029,1KG_AMR_AF,EDN3
483652,20:57885432:G>A,NM_207034.2:c.365+8655G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,1.319,0.001,1KG_EUR_AF,EDN3
483653,20:57885454:G>C,NM_207034.2:c.365+8677G>C,\N,\N,2/4,Unknown significance,\N,intron_variant,0.304,0.001,1KG_EUR_AF,EDN3
483654,20:57885459:G>A,NM_207034.2:c.365+8682G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,0.956,0.0014,1KG_AMR_AF,EDN3
483655,20:57885465:A>C,NM_207034.2:c.365+8688A>C,\N,\N,2/4,Unknown significance,\N,intron_variant,0.931,\N,\N,EDN3
483656,20:57885475:G>C,NM_207034.2:c.365+8698G>C,\N,\N,2/4,Unknown significance,\N,intron_variant,0.055,\N,\N,EDN3
483657,20:57885484:T>C,NM_207034.2:c.365+8707T>C,\N,\N,2/4,Unknown significance,\N,intron_variant,1.775,\N,\N,EDN3
483658,20:57885494:G>A,NM_207034.2:c.365+8717G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,0.477,\N,\N,EDN3
483659,20:57885498:A>G,NM_207034.2:c.365+8721A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,0.812,\N,\N,EDN3
483660,20:57885505:G>A,NM_207034.2:c.365+8728G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,6.913,0.0008,1KG_AFR_AF,EDN3
483661,20:57885512:C>T,NM_207034.2:c.365+8735C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,2.319,0.0014,1KG_AMR_AF,EDN3
483662,20:57885513:G>A,NM_207034.2:c.365+8736G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,1.772,\N,\N,EDN3
483663,20:57885546:A>G,NM_207034.2:c.365+8769A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,2.386,\N,\N,EDN3
483664,20:57885559:A>T,NM_207034.2:c.365+8782A>T,\N,\N,2/4,Unknown significance,\N,intron_variant,3.065,\N,\N,EDN3
483665,20:57885577:T>C,NM_207034.2:c.365+8800T>C,\N,\N,2/4,Benign,\N,intron_variant,4.011,0.0068,1KG_AFR_AF,EDN3
483666,20:57885620:T>C,NM_207034.2:c.365+8843T>C,\N,\N,2/4,Unknown significance,\N,intron_variant,3.197,0.001,1KG_EAS_AF,EDN3
483667,20:57885654:G>A,NM_207034.2:c.365+8877G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,4.196,0.0023,1KG_AFR_AF,EDN3
483668,20:57885664:C>G,NM_207034.2:c.365+8887C>G,\N,\N,2/4,Unknown significance,\N,intron_variant,2.141,0.0015,1KG_AFR_AF,EDN3
483669,20:57885673:T>C,NM_207034.2:c.365+8896T>C,\N,\N,2/4,Benign,\N,intron_variant,2.67,0.0242,1KG_AFR_AF,EDN3
483670,20:57885676:T>C,NM_207034.2:c.365+8899T>C,\N,\N,2/4,Unknown significance,\N,intron_variant,2.106,0.0008,1KG_AFR_AF,EDN3
483671,20:57885689:G>A,NM_207034.2:c.365+8912G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,3.799,0.001,1KG_EUR_AF,EDN3
483672,20:57885699:T>A,NM_207034.2:c.365+8922T>A,\N,\N,2/4,Unknown significance,\N,intron_variant,0.872,\N,\N,EDN3
483673,20:57885722:C>T,NM_207034.2:c.365+8945C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,2.713,\N,\N,EDN3
483674,20:57885737:G>C,NM_207034.2:c.365+8960G>C,\N,\N,2/4,Unknown significance,\N,intron_variant,0.598,\N,\N,EDN3
483675,20:57885744:A>G,NM_207034.2:c.365+8967A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,4.317,0.0015,1KG_AFR_AF,EDN3
483676,20:57885793:C>T,NM_207034.2:c.365+9016C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,4.654,\N,\N,EDN3
483677,20:57885800:A>G,NM_207034.2:c.365+9023A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,1.504,0.0015,1KG_AFR_AF,EDN3
483678,20:57885817:C>T,NM_207034.2:c.365+9040C>T,\N,\N,2/4,Benign,\N,intron_variant,0.016,0.1881,1KG_SAS_AF,EDN3
483679,20:57885824:C>T,NM_207034.2:c.365+9047C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,1.461,0.001,1KG_SAS_AF,EDN3
483680,20:57885858:A>G,NM_207034.2:c.365+9081A>G,\N,\N,2/4,Benign,\N,intron_variant,1.165,0.5802,1KG_AFR_AF,EDN3
483681,20:57885864:G>A,NM_207034.2:c.365+9087G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,0.362,\N,\N,EDN3
483682,20:57885883:G>C,NM_207034.2:c.365+9106G>C,\N,\N,2/4,Unknown significance,\N,intron_variant,0.135,\N,\N,EDN3
483683,20:57885883:G>GC,NM_207034.2:c.365+9107dup,\N,\N,2/4,Unknown significance,\N,intron_variant,\N,\N,\N,EDN3
483684,20:57885884:C>CA,NM_207034.2:c.365+9110dup,\N,\N,2/4,Benign,\N,intron_variant,3.016,0.9539,1KG_AFR_AF,EDN3
483685,20:57885896:C>T,NM_207034.2:c.365+9119C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,5.592,0.004,1KG_EUR_AF,EDN3
483686,20:57885897:C>T,NM_207034.2:c.365+9120C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,1.772,\N,\N,EDN3
483687,20:57885917:A>G,NM_207034.2:c.365+9140A>G,\N,\N,2/4,Benign,\N,intron_variant,3.074,0.0447,1KG_AMR_AF,EDN3
483688,20:57885923:C>G,NM_207034.2:c.365+9146C>G,\N,\N,2/4,Benign,\N,intron_variant,1.875,0.0053,1KG_AFR_AF,EDN3
483689,20:57885932:T>TC,NM_207034.2:c.365+9157dup,\N,\N,2/4,Unknown significance,\N,intron_variant,\N,\N,\N,EDN3
483690,20:57885935:A>G,NM_207034.2:c.365+9158A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,1.411,\N,\N,EDN3
483691,20:57885949:G>T,NM_207034.2:c.365+9172G>T,\N,\N,2/4,Unknown significance,\N,intron_variant,5.302,\N,\N,EDN3
483692,20:57885971:A>G,NM_207034.2:c.365+9194A>G,\N,\N,2/4,Benign,\N,intron_variant,3.391,0.0061,1KG_SAS_AF,EDN3
483693,20:57886052:G>A,NM_207034.2:c.365+9275G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,4.437,0.001,1KG_EAS_AF|1KG_EUR_AF,EDN3
483694,20:57886077:T>C,NM_207034.2:c.365+9300T>C,\N,\N,2/4,Benign,\N,intron_variant,2.08,0.0174,1KG_SAS_AF,EDN3
483695,20:57886173:TCCACTTA>T,NM_207034.2:c.365+9399_365+9405del,\N,\N,2/4,Unknown significance,\N,intron_variant,\N,\N,\N,EDN3
483696,20:57886190:C>T,NM_207034.2:c.365+9413C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,3.153,0.001,1KG_EUR_AF,EDN3
483697,20:57886207:C>A,NM_207034.2:c.365+9430C>A,\N,\N,2/4,Unknown significance,\N,intron_variant,0.741,\N,\N,EDN3
483698,20:57886250:G>A,NM_207034.2:c.365+9473G>A,\N,\N,2/4,Benign,\N,intron_variant,2.185,0.0386,1KG_AFR_AF,EDN3
483699,20:57886251:A>G,NM_207034.2:c.365+9474A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,1.854,0.0014,1KG_AMR_AF,EDN3
483700,20:57886259:G>A,NM_207034.2:c.365+9482G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,1.144,\N,\N,EDN3
483701,20:57886302:G>C,NM_207034.2:c.365+9525G>C,\N,\N,2/4,Unknown significance,\N,intron_variant,0.052,0.001,1KG_SAS_AF,EDN3
483702,20:57886308:C>T,NM_207034.2:c.365+9531C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,0.454,0.0008,1KG_AFR_AF,EDN3
483703,20:57886312:C>G,NM_207034.2:c.365+9535C>G,\N,\N,2/4,Unknown significance,\N,intron_variant,1.722,0.0008,1KG_AFR_AF,EDN3
483704,20:57886317:C>A,NM_207034.2:c.365+9540C>A,\N,\N,2/4,Unknown significance,\N,intron_variant,2.858,\N,\N,EDN3
483705,20:57886341:C>T,NM_207034.2:c.365+9564C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,0.267,\N,\N,EDN3
483706,20:57886351:A>C,NM_207034.2:c.365+9574A>C,\N,\N,2/4,Unknown significance,\N,intron_variant,0.551,0.0014,1KG_AMR_AF,EDN3
483707,20:57886368:C>T,NM_207034.2:c.365+9591C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,1.879,0.0029,1KG_AMR_AF,EDN3
483708,20:57886369:A>G,NM_207034.2:c.365+9592A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,2.181,\N,\N,EDN3
483709,20:57886380:C>T,NM_207034.2:c.365+9603C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,0.752,0.0015,1KG_AFR_AF,EDN3
483710,20:57886381:G>A,NM_207034.2:c.365+9604G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,1.403,\N,\N,EDN3
483711,20:57886409:A>C,NM_207034.2:c.365+9632A>C,\N,\N,2/4,Unknown significance,\N,intron_variant,3.858,\N,\N,EDN3
483712,20:57886479:C>T,NM_207034.2:c.366-9593C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,0.051,0.002,1KG_EAS_AF,EDN3
483713,20:57886480:G>A,NM_207034.2:c.366-9592G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,1.027,0.001,1KG_SAS_AF,EDN3
483714,20:57886536:C>T,NM_207034.2:c.366-9536C>T,\N,\N,2/4,Benign,\N,intron_variant,2.415,0.0174,1KG_AFR_AF,EDN3
483715,20:57886549:T>C,NM_207034.2:c.366-9523T>C,\N,\N,2/4,Unknown significance,\N,intron_variant,1.393,\N,\N,EDN3
483716,20:57886554:G>A,NM_207034.2:c.366-9518G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,3.533,0.0014,1KG_AMR_AF,EDN3
483717,20:57886559:C>A,NM_207034.2:c.366-9513C>A,\N,\N,2/4,Unknown significance,\N,intron_variant,4.421,0.001,1KG_EUR_AF,EDN3
483718,20:57886562:C>T,NM_207034.2:c.366-9510C>T,\N,\N,2/4,Benign,\N,intron_variant,4.447,0.0129,1KG_EUR_AF,EDN3
483719,20:57886565:G>C,NM_207034.2:c.366-9507G>C,\N,\N,2/4,Benign,\N,intron_variant,0.835,0.0101,1KG_AMR_AF,EDN3
483720,20:57886583:G>A,NM_207034.2:c.366-9489G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,0.566,0.001,1KG_SAS_AF,EDN3
483721,20:57886597:C>T,NM_207034.2:c.366-9475C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,2.434,0.001,1KG_SAS_AF,EDN3
483722,20:57886598:G>A,NM_207034.2:c.366-9474G>A,\N,\N,2/4,Benign,\N,intron_variant,1.706,0.0347,1KG_EAS_AF,EDN3
483723,20:57886606:G>GC,NM_207034.2:c.366-9466_366-9465insC,\N,\N,2/4,Unknown significance,\N,intron_variant,\N,\N,\N,EDN3
483724,20:57886607:A>T,NM_207034.2:c.366-9465A>T,\N,\N,2/4,Unknown significance,\N,intron_variant,1.6,0.0023,1KG_AFR_AF,EDN3
483725,20:57886622:C>G,NM_207034.2:c.366-9450C>G,\N,\N,2/4,Unknown significance,\N,intron_variant,1.365,\N,\N,EDN3
483726,20:57886641:A>G,NM_207034.2:c.366-9431A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,0.062,0.001,1KG_SAS_AF,EDN3
483727,20:57886669:G>T,NM_207034.2:c.366-9403G>T,\N,\N,2/4,Unknown significance,\N,intron_variant,0.268,0.001,1KG_SAS_AF,EDN3
483728,20:57886709:A>T,NM_207034.2:c.366-9363A>T,\N,\N,2/4,Unknown significance,\N,intron_variant,6.188,0.0015,1KG_AFR_AF,EDN3
483729,20:57886711:G>GT,NM_207034.2:c.366-9347dup,\N,\N,2/4,Unknown significance,\N,intron_variant,3.188,\N,\N,EDN3
483730,20:57886711:GT>G,NM_207034.2:c.366-9347del,\N,\N,2/4,Unknown significance,\N,intron_variant,7.591,\N,\N,EDN3
483731,20:57886713:T>G,NM_207034.2:c.366-9359T>G,\N,\N,2/4,Unknown significance,\N,intron_variant,7.081,\N,\N,EDN3
483732,20:57886729:C>T,NM_207034.2:c.366-9343C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,1.859,0.0008,1KG_AFR_AF,EDN3
483733,20:57886730:G>A,NM_207034.2:c.366-9342G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,0.006,0.0038,1KG_AFR_AF,EDN3
483734,20:57886735:G>A,NM_207034.2:c.366-9337G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,2.643,0.001,1KG_EUR_AF,EDN3
483735,20:57886770:G>T,NM_207034.2:c.366-9302G>T,\N,\N,2/4,Benign,\N,intron_variant,0.761,0.0079,1KG_EAS_AF,EDN3
483736,20:57886783:G>A,NM_207034.2:c.366-9289G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,0.913,\N,\N,EDN3
483737,20:57886791:C>T,NM_207034.2:c.366-9281C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,1.625,0.0023,1KG_AFR_AF,EDN3
483738,20:57886805:G>T,NM_207034.2:c.366-9267G>T,\N,\N,2/4,Unknown significance,\N,intron_variant,1.294,\N,\N,EDN3
483739,20:57886828:C>A,NM_207034.2:c.366-9244C>A,\N,\N,2/4,Benign,\N,intron_variant,5.865,0.0098,1KG_AFR_AF,EDN3
483740,20:57886837:C>G,NM_207034.2:c.366-9235C>G,\N,\N,2/4,Unknown significance,\N,intron_variant,4.329,0.0015,1KG_AFR_AF,EDN3
483741,20:57886856:A>G,NM_207034.2:c.366-9216A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,1.614,0.0014,1KG_AMR_AF,EDN3
483742,20:57886862:G>T,NM_207034.2:c.366-9210G>T,\N,\N,2/4,Benign,\N,intron_variant,0.926,0.0053,1KG_AFR_AF,EDN3
483743,20:57886871:C>T,NM_207034.2:c.366-9201C>T,\N,\N,2/4,Benign,\N,intron_variant,0.093,0.0061,1KG_AFR_AF,EDN3
483744,20:57886872:G>A,NM_207034.2:c.366-9200G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,0.389,\N,\N,EDN3
483745,20:57886877:C>T,NM_207034.2:c.366-9195C>T,\N,\N,2/4,Benign,\N,intron_variant,4.085,0.005,1KG_EAS_AF,EDN3
483746,20:57886909:A>T,NM_207034.2:c.366-9163A>T,\N,\N,2/4,Unknown significance,\N,intron_variant,1.956,0.0023,1KG_AFR_AF,EDN3
483747,20:57886912:G>C,NM_207034.2:c.366-9160G>C,\N,\N,2/4,Unknown significance,\N,intron_variant,0.928,0.001,1KG_EAS_AF,EDN3
483748,20:57886913:A>G,NM_207034.2:c.366-9159A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,3.381,0.0015,1KG_AFR_AF,EDN3
483749,20:57886927:G>A,NM_207034.2:c.366-9145G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,2.88,\N,\N,EDN3
483750,20:57886945:G>A,NM_207034.2:c.366-9127G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,1.527,0.001,1KG_SAS_AF,EDN3
483751,20:57886954:C>T,NM_207034.2:c.366-9118C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,3.114,\N,\N,EDN3
483752,20:57886955:G>A,NM_207034.2:c.366-9117G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,2.04,\N,\N,EDN3
483753,20:57886959:A>G,NM_207034.2:c.366-9113A>G,\N,\N,2/4,Benign,\N,intron_variant,0.494,0.0408,1KG_AFR_AF,EDN3
483754,20:57886966:T>C,NM_207034.2:c.366-9106T>C,\N,\N,2/4,Unknown significance,\N,intron_variant,1.857,\N,\N,EDN3
483755,20:57886974:A>G,NM_207034.2:c.366-9098A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,0.287,0.002,1KG_SAS_AF,EDN3
483756,20:57886975:T>C,NM_207034.2:c.366-9097T>C,\N,\N,2/4,Unknown significance,\N,intron_variant,0.756,0.001,1KG_EUR_AF,EDN3
483757,20:57886990:A>G,NM_207034.2:c.366-9082A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,2.236,0.003,1KG_AFR_AF,EDN3
483758,20:57886992:G>A,NM_207034.2:c.366-9080G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,3.051,\N,\N,EDN3
483759,20:57887004:C>T,NM_207034.2:c.366-9068C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,1.986,\N,\N,EDN3
483760,20:57887014:G>T,NM_207034.2:c.366-9058G>T,\N,\N,2/4,Unknown significance,\N,intron_variant,6.127,0.0008,1KG_AFR_AF,EDN3
483761,20:57887020:C>T,NM_207034.2:c.366-9052C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,13.09,\N,\N,EDN3
483762,20:57887045:T>TC,NM_207034.2:c.366-9026dup,\N,\N,2/4,Unknown significance,\N,intron_variant,\N,\N,\N,EDN3
483763,20:57887059:A>G,NM_207034.2:c.366-9013A>G,\N,\N,2/4,Benign,\N,intron_variant,2.525,0.9501,1KG_AFR_AF,EDN3
483764,20:57887076:A>T,NM_207034.2:c.366-8996A>T,\N,\N,2/4,Benign,\N,intron_variant,1.388,0.0083,1KG_AFR_AF,EDN3
483765,20:57887079:A>T,NM_207034.2:c.366-8993A>T,\N,\N,2/4,Unknown significance,\N,intron_variant,2.314,\N,\N,EDN3
483766,20:57887083:T>A,NM_207034.2:c.366-8989T>A,\N,\N,2/4,Unknown significance,\N,intron_variant,6.65,\N,\N,EDN3
483767,20:57887097:TTA>T,NM_207034.2:c.366-8974_366-8973del,\N,\N,2/4,Unknown significance,\N,intron_variant,7.137,\N,\N,EDN3
483768,20:57887098:T>A,NM_207034.2:c.366-8974T>A,\N,\N,2/4,Unknown significance,\N,intron_variant,4.544,0.0015,1KG_AFR_AF,EDN3
483769,20:57887098:TA>T,NM_207034.2:c.366-8972del,\N,\N,2/4,Benign,\N,intron_variant,6.63,0.4493,1KG_AFR_AF,EDN3
483770,20:57887099:A>T,NM_207034.2:c.366-8973A>T,\N,\N,2/4,Unknown significance,\N,intron_variant,2.95,\N,\N,EDN3
483771,20:57887126:A>T,NM_207034.2:c.366-8946A>T,\N,\N,2/4,Unknown significance,\N,intron_variant,3.485,\N,\N,EDN3
483772,20:57887142:C>T,NM_207034.2:c.366-8930C>T,\N,\N,2/4,Benign,\N,intron_variant,7.373,0.034,1KG_AFR_AF,EDN3
483773,20:57887154:C>T,NM_207034.2:c.366-8918C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,4.643,\N,\N,EDN3
483774,20:57887212:A>C,NM_207034.2:c.366-8860A>C,\N,\N,2/4,Unknown significance,\N,intron_variant,14.53,0.001,1KG_EAS_AF,EDN3
483775,20:57887232:A>G,NM_207034.2:c.366-8840A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,6.468,\N,\N,EDN3
483776,20:57887263:G>A,NM_207034.2:c.366-8809G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,13.35,0.0015,1KG_AFR_AF,EDN3
483777,20:57887294:G>A,NM_207034.2:c.366-8778G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,16.66,\N,\N,EDN3
483778,20:57887360:A>G,NM_207034.2:c.366-8712A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,2.189,\N,\N,EDN3
483779,20:57887381:G>A,NM_207034.2:c.366-8691G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,1.535,\N,\N,EDN3
483780,20:57887418:T>A,NM_207034.2:c.366-8654T>A,\N,\N,2/4,Unknown significance,\N,intron_variant,5.524,0.0008,1KG_AFR_AF,EDN3
483781,20:57887420:A>AT,NM_207034.2:c.366-8642dup,\N,\N,2/4,Unknown significance,\N,intron_variant,\N,\N,\N,EDN3
483782,20:57887425:T>A,NM_207034.2:c.366-8647T>A,\N,\N,2/4,Benign,\N,intron_variant,5.93,0.0068,1KG_AFR_AF,EDN3
483783,20:57887469:A>G,NM_207034.2:c.366-8603A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,4.905,\N,\N,EDN3
483784,20:57887469:A>T,NM_207034.2:c.366-8603A>T,\N,\N,2/4,Unknown significance,\N,intron_variant,3.383,0.001,1KG_EAS_AF,EDN3
483785,20:57887471:C>G,NM_207034.2:c.366-8601C>G,\N,\N,2/4,Unknown significance,\N,intron_variant,1.345,0.001,1KG_EAS_AF,EDN3
483786,20:57887500:C>A,NM_207034.2:c.366-8572C>A,\N,\N,2/4,Unknown significance,\N,intron_variant,10.19,\N,\N,EDN3
483787,20:57887526:G>C,NM_207034.2:c.366-8546G>C,\N,\N,2/4,Unknown significance,\N,intron_variant,0.8,0.0015,1KG_AFR_AF,EDN3
483788,20:57887582:G>T,NM_207034.2:c.366-8490G>T,\N,\N,2/4,Unknown significance,\N,intron_variant,3.668,\N,\N,EDN3
483789,20:57887606:C>T,NM_207034.2:c.366-8466C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,3.172,0.0014,1KG_AMR_AF,EDN3
483790,20:57887616:A>T,NM_207034.2:c.366-8456A>T,\N,\N,2/4,Unknown significance,\N,intron_variant,1.666,0.001,1KG_SAS_AF,EDN3
483791,20:57887656:G>A,NM_207034.2:c.366-8416G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,2.945,0.0008,1KG_AFR_AF,EDN3
483792,20:57887706:T>G,NM_207034.2:c.366-8366T>G,\N,\N,2/4,Unknown significance,\N,intron_variant,8.839,\N,\N,EDN3
483793,20:57887713:C>G,NM_207034.2:c.366-8359C>G,\N,\N,2/4,Unknown significance,\N,intron_variant,6.283,0.001,1KG_EUR_AF,EDN3
483794,20:57887761:C>T,NM_207034.2:c.366-8311C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,2.541,\N,\N,EDN3
483795,20:57887762:G>A,NM_207034.2:c.366-8310G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,4.257,0.0008,1KG_AFR_AF,EDN3
483796,20:57887771:A>G,NM_207034.2:c.366-8301A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,2.654,\N,\N,EDN3
483797,20:57887835:T>C,NM_207034.2:c.366-8237T>C,\N,\N,2/4,Unknown significance,\N,intron_variant,1.74,0.0031,1KG_SAS_AF,EDN3
483798,20:57887918:G>A,NM_207034.2:c.366-8154G>A,\N,\N,2/4,Benign,\N,intron_variant,6.968,0.8601,1KG_EAS_AF,EDN3
483799,20:57887952:G>A,NM_207034.2:c.366-8120G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,2.808,0.002,1KG_SAS_AF,EDN3
483800,20:57887971:T>G,NM_207034.2:c.366-8101T>G,\N,\N,2/4,Benign,\N,intron_variant,4.218,0.9614,1KG_AFR_AF,EDN3
483801,20:57888015:C>T,NM_207034.2:c.366-8057C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,2.29,\N,\N,EDN3
483802,20:57888017:A>T,NM_207034.2:c.366-8055A>T,\N,\N,2/4,Unknown significance,\N,intron_variant,0.803,0.001,1KG_EUR_AF,EDN3
483803,20:57888019:G>A,NM_207034.2:c.366-8053G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,4.586,\N,\N,EDN3
483804,20:57888039:A>G,NM_207034.2:c.366-8033A>G,\N,\N,2/4,Benign,\N,intron_variant,0.865,0.044,1KG_SAS_AF,EDN3
483805,20:57888079:A>G,NM_207034.2:c.366-7993A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,2.699,\N,\N,EDN3
483806,20:57888094:G>A,NM_207034.2:c.366-7978G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,3.87,0.001,1KG_EUR_AF,EDN3
483807,20:57888098:T>C,NM_207034.2:c.366-7974T>C,\N,\N,2/4,Unknown significance,\N,intron_variant,1.362,\N,\N,EDN3
483808,20:57888111:A>G,NM_207034.2:c.366-7961A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,2.903,0.0015,1KG_AFR_AF,EDN3
483809,20:57888141:C>T,NM_207034.2:c.366-7931C>T,\N,\N,2/4,Benign,\N,intron_variant,3.264,0.0242,1KG_AFR_AF,EDN3
483810,20:57888190:A>C,NM_207034.2:c.366-7882A>C,\N,\N,2/4,Unknown significance,\N,intron_variant,2.557,\N,\N,EDN3
483811,20:57888199:T>C,NM_207034.2:c.366-7873T>C,\N,\N,2/4,Unknown significance,\N,intron_variant,0.582,0.001,1KG_EAS_AF,EDN3
483812,20:57888223:A>G,NM_207034.2:c.366-7849A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,1.767,0.001,1KG_EUR_AF,EDN3
483813,20:57888251:C>T,NM_207034.2:c.366-7821C>T,\N,\N,2/4,Benign,\N,intron_variant,1.374,0.1331,1KG_AFR_AF,EDN3
483814,20:57888252:C>T,NM_207034.2:c.366-7820C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,3.031,\N,\N,EDN3
483815,20:57888254:TATTC>T,NM_207034.2:c.366-7809_366-7806del,\N,\N,2/4,Unknown significance,\N,intron_variant,\N,\N,\N,EDN3
483816,20:57888317:C>T,NM_207034.2:c.366-7755C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,5.915,0.0045,1KG_AFR_AF,EDN3
483817,20:57888352:G>A,NM_207034.2:c.366-7720G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,1.688,0.001,1KG_EUR_AF,EDN3
483818,20:57888379:G>A,NM_207034.2:c.366-7693G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,3.211,\N,\N,EDN3
483819,20:57888385:G>A,NM_207034.2:c.366-7687G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,3.887,\N,\N,EDN3
483820,20:57888387:T>A,NM_207034.2:c.366-7685T>A,\N,\N,2/4,Unknown significance,\N,intron_variant,6.779,\N,\N,EDN3
483821,20:57888394:G>A,NM_207034.2:c.366-7678G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,2.181,0.001,1KG_SAS_AF,EDN3
483822,20:57888409:G>A,NM_207034.2:c.366-7663G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,5.16,\N,\N,EDN3
483823,20:57888422:C>T,NM_207034.2:c.366-7650C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,5.977,0.0023,1KG_AFR_AF,EDN3
483824,20:57888437:T>C,NM_207034.2:c.366-7635T>C,\N,\N,2/4,Benign,\N,intron_variant,1.441,0.034,1KG_AFR_AF,EDN3
483825,20:57888446:C>A,NM_207034.2:c.366-7626C>A,\N,\N,2/4,Unknown significance,\N,intron_variant,0.422,0.002,1KG_EUR_AF,EDN3
483826,20:57888488:T>A,NM_207034.2:c.366-7584T>A,\N,\N,2/4,Unknown significance,\N,intron_variant,3.62,0.0023,1KG_AFR_AF,EDN3
483827,20:57888501:T>A,NM_207034.2:c.366-7571T>A,\N,\N,2/4,Unknown significance,\N,intron_variant,4.926,\N,\N,EDN3
483828,20:57888579:G>T,NM_207034.2:c.366-7493G>T,\N,\N,2/4,Benign,\N,intron_variant,1.388,0.0106,1KG_AFR_AF,EDN3
483829,20:57888583:A>G,NM_207034.2:c.366-7489A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,1.108,0.003,1KG_EUR_AF,EDN3
483830,20:57888600:AT>A,NM_207034.2:c.366-7466del,\N,\N,2/4,Unknown significance,\N,intron_variant,\N,\N,\N,EDN3
483831,20:57888628:C>T,NM_207034.2:c.366-7444C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,9.624,0.004,1KG_EUR_AF,EDN3
483832,20:57888635:T>A,NM_207034.2:c.366-7437T>A,\N,\N,2/4,Unknown significance,\N,intron_variant,8.687,\N,\N,EDN3
483833,20:57888643:T>C,NM_207034.2:c.366-7429T>C,\N,\N,2/4,Unknown significance,\N,intron_variant,2.464,0.001,1KG_SAS_AF,EDN3
483834,20:57888661:A>G,NM_207034.2:c.366-7411A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,4.859,0.001,1KG_EUR_AF,EDN3
483835,20:57888664:T>G,NM_207034.2:c.366-7408T>G,\N,\N,2/4,Unknown significance,\N,intron_variant,4.137,0.0015,1KG_AFR_AF,EDN3
483836,20:57888673:C>A,NM_207034.2:c.366-7399C>A,\N,\N,2/4,Unknown significance,\N,intron_variant,6.344,\N,\N,EDN3
483837,20:57888681:C>T,NM_207034.2:c.366-7391C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,1.374,0.001,1KG_EAS_AF|1KG_SAS_AF,EDN3
483838,20:57888695:C>T,NM_207034.2:c.366-7377C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,7.819,\N,\N,EDN3
483839,20:57888731:T>C,NM_207034.2:c.366-7341T>C,\N,\N,2/4,Unknown significance,\N,intron_variant,2.375,0.004,1KG_EUR_AF,EDN3
483840,20:57888735:C>T,NM_207034.2:c.366-7337C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,0.767,0.001,1KG_SAS_AF,EDN3
483841,20:57888736:G>A,NM_207034.2:c.366-7336G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,0.837,\N,\N,EDN3
483842,20:57888744:T>A,NM_207034.2:c.366-7328T>A,\N,\N,2/4,Unknown significance,\N,intron_variant,8.05,0.001,1KG_SAS_AF,EDN3
483843,20:57888758:C>T,NM_207034.2:c.366-7314C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,4.037,\N,\N,EDN3
483844,20:57888767:G>A,NM_207034.2:c.366-7305G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,1.078,\N,\N,EDN3
483845,20:57888804:GC>G,NM_207034.2:c.366-7266del,\N,\N,2/4,Unknown significance,\N,intron_variant,3.612,\N,\N,EDN3
483846,20:57888805:C>A,NM_207034.2:c.366-7267C>A,\N,\N,2/4,Unknown significance,\N,intron_variant,4.833,0.0015,1KG_AFR_AF,EDN3
483847,20:57888807:G>T,NM_207034.2:c.366-7265G>T,\N,\N,2/4,Unknown significance,\N,intron_variant,0.711,0.002,1KG_EAS_AF,EDN3
483848,20:57888834:A>C,NM_207034.2:c.366-7238A>C,\N,\N,2/4,Unknown significance,\N,intron_variant,0.243,\N,\N,EDN3
483849,20:57888834:A>G,NM_207034.2:c.366-7238A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,0.936,0.0014,1KG_AMR_AF,EDN3
483850,20:57888851:T>C,NM_207034.2:c.366-7221T>C,\N,\N,2/4,Unknown significance,\N,intron_variant,0.945,0.0008,1KG_AFR_AF,EDN3
483851,20:57888856:T>G,NM_207034.2:c.366-7216T>G,\N,\N,2/4,Unknown significance,\N,intron_variant,4.249,\N,\N,EDN3
483852,20:57888869:C>T,NM_207034.2:c.366-7203C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,0.494,0.001,1KG_EAS_AF,EDN3
483853,20:57888872:C>CTG,NM_207034.2:c.366-7192_366-7191dup,\N,\N,2/4,Unknown significance,\N,intron_variant,\N,\N,\N,EDN3
483854,20:57888919:T>G,NM_207034.2:c.366-7153T>G,\N,\N,2/4,Unknown significance,\N,intron_variant,10.79,0.0008,1KG_AFR_AF,EDN3
483855,20:57888924:G>A,NM_207034.2:c.366-7148G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,8.889,\N,\N,EDN3
483856,20:57888966:C>T,NM_207034.2:c.366-7106C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,2.509,\N,\N,EDN3
483857,20:57888998:T>C,NM_207034.2:c.366-7074T>C,\N,\N,2/4,Unknown significance,\N,intron_variant,7.028,0.0014,1KG_AMR_AF,EDN3
483858,20:57889006:G>A,NM_207034.2:c.366-7066G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,7.034,0.0008,1KG_AFR_AF,EDN3
483859,20:57889028:A>G,NM_207034.2:c.366-7044A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,2.068,0.002,1KG_EAS_AF,EDN3
483860,20:57889038:T>C,NM_207034.2:c.366-7034T>C,\N,\N,2/4,Unknown significance,\N,intron_variant,2.23,0.001,1KG_SAS_AF,EDN3
483861,20:57889072:G>A,NM_207034.2:c.366-7000G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,1.282,\N,\N,EDN3
483862,20:57889075:C>T,NM_207034.2:c.366-6997C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,0.166,0.0029,1KG_AMR_AF,EDN3
483863,20:57889076:G>A,NM_207034.2:c.366-6996G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,1.9,0.001,1KG_EUR_AF,EDN3
483864,20:57889128:C>G,NM_207034.2:c.366-6944C>G,\N,\N,2/4,Unknown significance,\N,intron_variant,5.357,0.0015,1KG_AFR_AF,EDN3
483865,20:57889141:A>G,NM_207034.2:c.366-6931A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,2.851,\N,\N,EDN3
483866,20:57889154:C>T,NM_207034.2:c.366-6918C>T,\N,\N,2/4,Benign,\N,intron_variant,2.057,0.0327,1KG_SAS_AF,EDN3
483867,20:57889155:G>A,NM_207034.2:c.366-6917G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,1.797,\N,\N,EDN3
483868,20:57889169:G>A,NM_207034.2:c.366-6903G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,3.082,0.0015,1KG_AFR_AF,EDN3
483869,20:57889179:G>T,NM_207034.2:c.366-6893G>T,\N,\N,2/4,Unknown significance,\N,intron_variant,2.062,\N,\N,EDN3
483870,20:57889185:C>G,NM_207034.2:c.366-6887C>G,\N,\N,2/4,Unknown significance,\N,intron_variant,3.174,0.003,1KG_AFR_AF,EDN3
483871,20:57889193:C>T,NM_207034.2:c.366-6879C>T,\N,\N,2/4,Benign,\N,intron_variant,3.021,0.0069,1KG_EAS_AF,EDN3
483872,20:57889232:G>T,NM_207034.2:c.366-6840G>T,\N,\N,2/4,Unknown significance,\N,intron_variant,1.041,\N,\N,EDN3
483873,20:57889256:C>T,NM_207034.2:c.366-6816C>T,\N,\N,2/4,Benign,\N,intron_variant,2.572,0.0061,1KG_AFR_AF,EDN3
483874,20:57889261:C>T,NM_207034.2:c.366-6811C>T,\N,\N,2/4,Benign,\N,intron_variant,5.937,0.0076,1KG_AFR_AF,EDN3
483875,20:57889304:G>A,NM_207034.2:c.366-6768G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,2.33,0.001,1KG_SAS_AF,EDN3
483876,20:57889331:C>T,NM_207034.2:c.366-6741C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,3.415,0.0008,1KG_AFR_AF,EDN3
483877,20:57889423:A>G,NM_207034.2:c.366-6649A>G,\N,\N,2/4,Benign,\N,intron_variant,5.462,0.006,1KG_EAS_AF,EDN3
483878,20:57889444:C>A,NM_207034.2:c.366-6628C>A,\N,\N,2/4,Unknown significance,\N,intron_variant,5.178,0.002,1KG_EUR_AF,EDN3
483879,20:57889458:C>A,NM_207034.2:c.366-6614C>A,\N,\N,2/4,Unknown significance,\N,intron_variant,6.804,0.002,1KG_SAS_AF,EDN3
483880,20:57889489:C>T,NM_207034.2:c.366-6583C>T,\N,\N,2/4,Benign,\N,intron_variant,1.024,0.006,1KG_EUR_AF,EDN3
483881,20:57889522:C>T,NM_207034.2:c.366-6550C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,2.622,0.001,1KG_EUR_AF,EDN3
483882,20:57889540:G>C,NM_207034.2:c.366-6532G>C,\N,\N,2/4,Unknown significance,\N,intron_variant,1.375,0.0015,1KG_AFR_AF,EDN3
483883,20:57889541:A>G,NM_207034.2:c.366-6531A>G,\N,\N,2/4,Benign,\N,intron_variant,1.893,0.034,1KG_AFR_AF,EDN3
483884,20:57889543:G>C,NM_207034.2:c.366-6529G>C,\N,\N,2/4,Benign,\N,intron_variant,0.101,0.5159,1KG_AFR_AF,EDN3
483885,20:57889569:G>C,NM_207034.2:c.366-6503G>C,\N,\N,2/4,Unknown significance,\N,intron_variant,0.573,\N,\N,EDN3
483886,20:57889595:C>T,NM_207034.2:c.366-6477C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,0.584,0.002,1KG_EAS_AF,EDN3
483887,20:57889603:C>T,NM_207034.2:c.366-6469C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,4.255,0.0008,1KG_AFR_AF,EDN3
483888,20:57889651:C>G,NM_207034.2:c.366-6421C>G,\N,\N,2/4,Unknown significance,\N,intron_variant,0.147,0.0015,1KG_AFR_AF,EDN3
483889,20:57889675:G>A,NM_207034.2:c.366-6397G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,2.03,0.0029,1KG_AMR_AF,EDN3
483890,20:57889698:T>G,NM_207034.2:c.366-6374T>G,\N,\N,2/4,Unknown significance,\N,intron_variant,3.086,0.001,1KG_SAS_AF,EDN3
483891,20:57889738:A>G,NM_207034.2:c.366-6334A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,3.535,0.0015,1KG_AFR_AF,EDN3
483892,20:57889745:G>GC,NM_207034.2:c.366-6321dup,\N,\N,2/4,Unknown significance,\N,intron_variant,1.806,0.003,1KG_AFR_AF,EDN3
483893,20:57889748:C>A,NM_207034.2:c.366-6324C>A,\N,\N,2/4,Unknown significance,\N,intron_variant,2.202,0.0015,1KG_AFR_AF,EDN3
483894,20:57889751:C>T,NM_207034.2:c.366-6321C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,2.303,0.0008,1KG_AFR_AF,EDN3
483895,20:57889758:C>T,NM_207034.2:c.366-6314C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,5.055,\N,\N,EDN3
483896,20:57889775:G>A,NM_207034.2:c.366-6297G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,2.038,\N,\N,EDN3
483897,20:57889832:T>C,NM_207034.2:c.366-6240T>C,\N,\N,2/4,Unknown significance,\N,intron_variant,0.754,\N,\N,EDN3
483898,20:57889834:C>T,NM_207034.2:c.366-6238C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,3.361,\N,\N,EDN3
483899,20:57889841:C>T,NM_207034.2:c.366-6231C>T,\N,\N,2/4,Benign,\N,intron_variant,2.25,0.0398,1KG_EUR_AF,EDN3
483900,20:57889871:C>T,NM_207034.2:c.366-6201C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,3.772,0.001,1KG_EAS_AF,EDN3
483901,20:57889876:G>T,NM_207034.2:c.366-6196G>T,\N,\N,2/4,Unknown significance,\N,intron_variant,1.457,\N,\N,EDN3
483902,20:57889892:G>A,NM_207034.2:c.366-6180G>A,\N,\N,2/4,Benign,\N,intron_variant,1.409,0.0378,1KG_AFR_AF,EDN3
483903,20:57889917:G>T,NM_207034.2:c.366-6155G>T,\N,\N,2/4,Unknown significance,\N,intron_variant,1.44,0.001,1KG_EAS_AF,EDN3
483904,20:57889924:T>C,NM_207034.2:c.366-6148T>C,\N,\N,2/4,Unknown significance,\N,intron_variant,0.889,\N,\N,EDN3
483905,20:57889939:A>G,NM_207034.2:c.366-6133A>G,\N,\N,2/4,Benign,\N,intron_variant,4.828,0.5166,1KG_AFR_AF,EDN3
483906,20:57889940:G>A,NM_207034.2:c.366-6132G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,4.926,0.0031,1KG_SAS_AF,EDN3
483907,20:57889983:G>T,NM_207034.2:c.366-6089G>T,\N,\N,2/4,Unknown significance,\N,intron_variant,2.147,\N,\N,EDN3
483908,20:57890043:A>G,NM_207034.2:c.366-6029A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,0.929,0.0008,1KG_AFR_AF,EDN3
483909,20:57890110:C>T,NM_207034.2:c.366-5962C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,1.355,0.0008,1KG_AFR_AF,EDN3
483910,20:57890111:G>A,NM_207034.2:c.366-5961G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,1.457,\N,\N,EDN3
483911,20:57890129:T>A,NM_207034.2:c.366-5943T>A,\N,\N,2/4,Unknown significance,\N,intron_variant,6.192,0.0014,1KG_AMR_AF,EDN3
483912,20:57890131:C>A,NM_207034.2:c.366-5941C>A,\N,\N,2/4,Unknown significance,\N,intron_variant,1.757,\N,\N,EDN3
483913,20:57890165:C>T,NM_207034.2:c.366-5907C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,4.483,0.0015,1KG_AFR_AF,EDN3
483914,20:57890178:A>G,NM_207034.2:c.366-5894A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,3.648,\N,\N,EDN3
483915,20:57890199:T>C,NM_207034.2:c.366-5873T>C,\N,\N,2/4,Benign,\N,intron_variant,3.295,0.0675,1KG_EAS_AF,EDN3
483916,20:57890204:G>A,NM_207034.2:c.366-5868G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,3.701,\N,\N,EDN3
483917,20:57890241:T>C,NM_207034.2:c.366-5831T>C,\N,\N,2/4,Unknown significance,\N,intron_variant,4.717,\N,\N,EDN3
483918,20:57890256:A>G,NM_207034.2:c.366-5816A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,0.972,\N,\N,EDN3
483919,20:57890264:C>T,NM_207034.2:c.366-5808C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,0.331,\N,\N,EDN3
483920,20:57890306:G>A,NM_207034.2:c.366-5766G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,3.787,\N,\N,EDN3
483921,20:57890325:G>A,NM_207034.2:c.366-5747G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,11.28,0.0031,1KG_SAS_AF,EDN3
483922,20:57890327:C>T,NM_207034.2:c.366-5745C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,9.402,0.001,1KG_EAS_AF,EDN3
483923,20:57890350:G>A,NM_207034.2:c.366-5722G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,8.135,0.0008,1KG_AFR_AF,EDN3
483924,20:57890374:T>G,NM_207034.2:c.366-5698T>G,\N,\N,2/4,Unknown significance,\N,intron_variant,11.64,\N,\N,EDN3
483925,20:57890379:C>G,NM_207034.2:c.366-5693C>G,\N,\N,2/4,Unknown significance,\N,intron_variant,9.392,0.001,1KG_SAS_AF,EDN3
483926,20:57890398:G>A,NM_207034.2:c.366-5674G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,7.701,0.002,1KG_EAS_AF,EDN3
483927,20:57890406:A>G,NM_207034.2:c.366-5666A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,7.828,0.0008,1KG_AFR_AF,EDN3
483928,20:57890408:A>G,NM_207034.2:c.366-5664A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,4.954,0.0015,1KG_AFR_AF,EDN3
483929,20:57890415:T>C,NM_207034.2:c.366-5657T>C,\N,\N,2/4,Unknown significance,\N,intron_variant,0.843,\N,\N,EDN3
483930,20:57890428:A>G,NM_207034.2:c.366-5644A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,0.388,\N,\N,EDN3
483931,20:57890472:G>A,NM_207034.2:c.366-5600G>A,\N,\N,2/4,Benign,\N,intron_variant,9.294,0.0106,1KG_AFR_AF,EDN3
483932,20:57890488:G>A,NM_207034.2:c.366-5584G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,2.612,0.002,1KG_EAS_AF,EDN3
483933,20:57890494:C>T,NM_207034.2:c.366-5578C>T,\N,\N,2/4,Benign,\N,intron_variant,1.409,0.0298,1KG_EUR_AF,EDN3
483934,20:57890495:G>A,NM_207034.2:c.366-5577G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,0.996,\N,\N,EDN3
483935,20:57890521:G>T,NM_207034.2:c.366-5551G>T,\N,\N,2/4,Benign,\N,intron_variant,0.712,0.0076,1KG_AFR_AF,EDN3
483936,20:57890530:G>C,NM_207034.2:c.366-5542G>C,\N,\N,2/4,Unknown significance,\N,intron_variant,0.436,\N,\N,EDN3
483937,20:57890538:T>C,NM_207034.2:c.366-5534T>C,\N,\N,2/4,Unknown significance,\N,intron_variant,2.961,\N,\N,EDN3
483938,20:57890565:A>G,NM_207034.2:c.366-5507A>G,\N,\N,2/4,Benign,\N,intron_variant,1.809,0.0235,1KG_SAS_AF,EDN3
483939,20:57890652:A>G,NM_207034.2:c.366-5420A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,12.53,\N,\N,EDN3
483940,20:57890820:G>A,NM_207034.2:c.366-5252G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,2.028,0.0008,1KG_AFR_AF,EDN3
483941,20:57890861:C>T,NM_207034.2:c.366-5211C>T,\N,\N,2/4,Benign,\N,intron_variant,0.424,0.0053,1KG_AFR_AF,EDN3
483942,20:57890872:C>A,NM_207034.2:c.366-5200C>A,\N,\N,2/4,Unknown significance,\N,intron_variant,2.806,\N,\N,EDN3
483943,20:57890929:C>T,NM_207034.2:c.366-5143C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,2.729,0.001,1KG_SAS_AF,EDN3
483944,20:57890930:G>A,NM_207034.2:c.366-5142G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,2.041,0.0008,1KG_AFR_AF,EDN3
483945,20:57890931:G>C,NM_207034.2:c.366-5141G>C,\N,\N,2/4,Unknown significance,\N,intron_variant,2.358,\N,\N,EDN3
483946,20:57890940:T>C,NM_207034.2:c.366-5132T>C,\N,\N,2/4,Unknown significance,\N,intron_variant,1.655,0.001,1KG_EAS_AF,EDN3
483947,20:57890941:G>A,NM_207034.2:c.366-5131G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,1.676,\N,\N,EDN3
483948,20:57890942:T>G,NM_207034.2:c.366-5130T>G,\N,\N,2/4,Unknown significance,\N,intron_variant,6.028,0.001,1KG_EAS_AF,EDN3
483949,20:57890951:C>T,NM_207034.2:c.366-5121C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,5.469,0.0014,1KG_AMR_AF,EDN3
483950,20:57890952:G>A,NM_207034.2:c.366-5120G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,1.362,0.0014,1KG_AMR_AF,EDN3
483951,20:57890954:A>G,NM_207034.2:c.366-5118A>G,\N,\N,2/4,Benign,\N,intron_variant,4.021,0.0242,1KG_AFR_AF,EDN3
483952,20:57890963:A>G,NM_207034.2:c.366-5109A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,6.793,\N,\N,EDN3
483953,20:57890979:C>T,NM_207034.2:c.366-5093C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,2.054,0.002,1KG_EAS_AF,EDN3
483954,20:57890980:G>A,NM_207034.2:c.366-5092G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,2.928,0.001,1KG_EAS_AF,EDN3
483955,20:57891022:C>T,NM_207034.2:c.366-5050C>T,\N,\N,2/4,Benign,\N,intron_variant,1.101,0.0053,1KG_AFR_AF,EDN3
483956,20:57891068:G>A,NM_207034.2:c.366-5004G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,3.143,\N,\N,EDN3
483957,20:57891100:G>A,NM_207034.2:c.366-4972G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,3.629,0.004,1KG_EUR_AF,EDN3
483958,20:57891123:C>T,NM_207034.2:c.366-4949C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,3.07,0.001,1KG_EAS_AF,EDN3
483959,20:57891127:G>C,NM_207034.2:c.366-4945G>C,\N,\N,2/4,Unknown significance,\N,intron_variant,0.044,0.001,1KG_SAS_AF,EDN3
483960,20:57891134:G>A,NM_207034.2:c.366-4938G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,1.803,0.0008,1KG_AFR_AF,EDN3
483961,20:57891149:G>A,NM_207034.2:c.366-4923G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,1.028,0.002,1KG_EAS_AF,EDN3
483962,20:57891156:G>A,NM_207034.2:c.366-4916G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,0.895,0.001,1KG_EUR_AF,EDN3
483963,20:57891168:G>C,NM_207034.2:c.366-4904G>C,\N,\N,2/4,Benign,\N,intron_variant,0.32,0.1879,1KG_EUR_AF,EDN3
483964,20:57891185:G>A,NM_207034.2:c.366-4887G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,3.046,\N,\N,EDN3
483965,20:57891213:C>G,NM_207034.2:c.366-4859C>G,\N,\N,2/4,Unknown significance,\N,intron_variant,3.415,0.0014,1KG_AMR_AF,EDN3
483966,20:57891216:G>A,NM_207034.2:c.366-4856G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,3.806,\N,\N,EDN3
483967,20:57891218:C>T,NM_207034.2:c.366-4854C>T,\N,\N,2/4,Benign,\N,intron_variant,0.924,0.087,1KG_AFR_AF,EDN3
483968,20:57891244:C>T,NM_207034.2:c.366-4828C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,2.418,\N,\N,EDN3
483969,20:57891245:G>A,NM_207034.2:c.366-4827G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,0.257,0.0008,1KG_AFR_AF,EDN3
483970,20:57891252:A>G,NM_207034.2:c.366-4820A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,3.242,0.0014,1KG_AMR_AF,EDN3
483971,20:57891266:T>C,NM_207034.2:c.366-4806T>C,\N,\N,2/4,Unknown significance,\N,intron_variant,1.88,0.0015,1KG_AFR_AF,EDN3
483972,20:57891267:T>C,NM_207034.2:c.366-4805T>C,\N,\N,2/4,Unknown significance,\N,intron_variant,2.615,\N,\N,EDN3
483973,20:57891294:A>C,NM_207034.2:c.366-4778A>C,\N,\N,2/4,Unknown significance,\N,intron_variant,0.739,\N,\N,EDN3
483974,20:57891296:T>C,NM_207034.2:c.366-4776T>C,\N,\N,2/4,Unknown significance,\N,intron_variant,2.634,\N,\N,EDN3
483975,20:57891309:G>A,NM_207034.2:c.366-4763G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,2.503,\N,\N,EDN3
483976,20:57891347:C>T,NM_207034.2:c.366-4725C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,0.666,\N,\N,EDN3
483977,20:57891348:G>A,NM_207034.2:c.366-4724G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,3.346,0.001,1KG_SAS_AF,EDN3
483978,20:57891351:C>T,NM_207034.2:c.366-4721C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,2.841,0.0014,1KG_AMR_AF,EDN3
483979,20:57891366:C>T,NM_207034.2:c.366-4706C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,1.348,\N,\N,EDN3
483980,20:57891369:A>G,NM_207034.2:c.366-4703A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,1.236,\N,\N,EDN3
483981,20:57891377:C>T,NM_207034.2:c.366-4695C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,4.431,0.003,1KG_AFR_AF,EDN3
483982,20:57891386:T>C,NM_207034.2:c.366-4686T>C,\N,\N,2/4,Benign,\N,intron_variant,1.484,0.0424,1KG_AFR_AF,EDN3
483983,20:57891395:G>A,NM_207034.2:c.366-4677G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,0.663,\N,\N,EDN3
483984,20:57891396:C>A,NM_207034.2:c.366-4676C>A,\N,\N,2/4,Unknown significance,\N,intron_variant,4.026,\N,\N,EDN3
483985,20:57891398:T>A,NM_207034.2:c.366-4674T>A,\N,\N,2/4,Unknown significance,\N,intron_variant,4.071,0.002,1KG_EAS_AF,EDN3
483986,20:57891401:A>G,NM_207034.2:c.366-4671A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,0.658,0.0045,1KG_AFR_AF,EDN3
483987,20:57891425:T>C,NM_207034.2:c.366-4647T>C,\N,\N,2/4,Unknown significance,\N,intron_variant,5.152,0.0031,1KG_SAS_AF,EDN3
483988,20:57891449:G>A,NM_207034.2:c.366-4623G>A,\N,\N,2/4,Benign,\N,intron_variant,1.057,0.0068,1KG_AFR_AF,EDN3
483989,20:57891449:G>C,NM_207034.2:c.366-4623G>C,\N,\N,2/4,Benign,\N,intron_variant,0.184,0.005,1KG_EAS_AF,EDN3
483990,20:57891453:G>A,NM_207034.2:c.366-4619G>A,\N,\N,2/4,Benign,\N,intron_variant,0.532,0.005,1KG_EUR_AF,EDN3
483991,20:57891477:T>C,NM_207034.2:c.366-4595T>C,\N,\N,2/4,Unknown significance,\N,intron_variant,1.831,0.001,1KG_EUR_AF,EDN3
483992,20:57891478:A>G,NM_207034.2:c.366-4594A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,1.663,\N,\N,EDN3
483993,20:57891482:A>T,NM_207034.2:c.366-4590A>T,\N,\N,2/4,Unknown significance,\N,intron_variant,1.248,\N,\N,EDN3
483994,20:57891487:C>T,NM_207034.2:c.366-4585C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,6.293,\N,\N,EDN3
483995,20:57891498:G>A,NM_207034.2:c.366-4574G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,3.412,\N,\N,EDN3
483996,20:57891499:C>T,NM_207034.2:c.366-4573C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,5.649,0.0015,1KG_AFR_AF,EDN3
483997,20:57891565:C>G,NM_207034.2:c.366-4507C>G,\N,\N,2/4,Unknown significance,\N,intron_variant,1.27,\N,\N,EDN3
483998,20:57891576:C>G,NM_207034.2:c.366-4496C>G,\N,\N,2/4,Unknown significance,\N,intron_variant,2.682,0.001,1KG_EAS_AF,EDN3
483999,20:57891624:C>T,NM_207034.2:c.366-4448C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,3.46,0.0015,1KG_AFR_AF,EDN3
484000,20:57891638:AG>A,NM_207034.2:c.366-4433del,\N,\N,2/4,Unknown significance,\N,intron_variant,\N,\N,\N,EDN3
484001,20:57891700:C>T,NM_207034.2:c.366-4372C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,0.991,0.001,1KG_EAS_AF,EDN3
484002,20:57891701:G>A,NM_207034.2:c.366-4371G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,0.265,0.001,1KG_EUR_AF|1KG_SAS_AF,EDN3
484003,20:57891705:T>C,NM_207034.2:c.366-4367T>C,\N,\N,2/4,Benign,\N,intron_variant,3.191,0.5136,1KG_AFR_AF,EDN3
484004,20:57891743:T>C,NM_207034.2:c.366-4329T>C,\N,\N,2/4,Unknown significance,\N,intron_variant,2.104,0.0014,1KG_AMR_AF,EDN3
484005,20:57891760:T>C,NM_207034.2:c.366-4312T>C,\N,\N,2/4,Unknown significance,\N,intron_variant,1.391,0.001,1KG_SAS_AF,EDN3
484006,20:57891775:A>T,NM_207034.2:c.366-4297A>T,\N,\N,2/4,Unknown significance,\N,intron_variant,1.261,0.002,1KG_EAS_AF,EDN3
484007,20:57891779:T>C,NM_207034.2:c.366-4293T>C,\N,\N,2/4,Unknown significance,\N,intron_variant,1.467,\N,\N,EDN3
484008,20:57891808:A>G,NM_207034.2:c.366-4264A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,0.098,0.003,1KG_EUR_AF,EDN3
484009,20:57891813:A>G,NM_207034.2:c.366-4259A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,1.953,\N,\N,EDN3
484010,20:57891828:T>A,NM_207034.2:c.366-4244T>A,\N,\N,2/4,Benign,\N,intron_variant,1.241,0.5136,1KG_AFR_AF,EDN3
484011,20:57891834:C>T,NM_207034.2:c.366-4238C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,3.997,\N,\N,EDN3
484012,20:57891885:T>G,NM_207034.2:c.366-4187T>G,\N,\N,2/4,Unknown significance,\N,intron_variant,4.179,0.001,1KG_EUR_AF,EDN3
484013,20:57891912:G>T,NM_207034.2:c.366-4160G>T,\N,\N,2/4,Unknown significance,\N,intron_variant,0.579,0.0029,1KG_AMR_AF,EDN3
484014,20:57891918:G>A,NM_207034.2:c.366-4154G>A,\N,\N,2/4,Benign,\N,intron_variant,0.275,0.0129,1KG_EAS_AF,EDN3
484015,20:57891956:G>A,NM_207034.2:c.366-4116G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,2.626,0.001,1KG_SAS_AF,EDN3
484016,20:57891982:G>A,NM_207034.2:c.366-4090G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,6.763,0.001,1KG_EAS_AF,EDN3
484017,20:57891995:A>G,NM_207034.2:c.366-4077A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,8.829,\N,\N,EDN3
484018,20:57892010:A>G,NM_207034.2:c.366-4062A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,2.603,\N,\N,EDN3
484019,20:57892014:C>A,NM_207034.2:c.366-4058C>A,\N,\N,2/4,Unknown significance,\N,intron_variant,4.833,\N,\N,EDN3
484020,20:57892020:C>T,NM_207034.2:c.366-4052C>T,\N,\N,2/4,Benign,\N,intron_variant,4.531,0.0129,1KG_EUR_AF,EDN3
484021,20:57892046:T>G,NM_207034.2:c.366-4026T>G,\N,\N,2/4,Unknown significance,\N,intron_variant,6.936,\N,\N,EDN3
484022,20:57892065:C>T,NM_207034.2:c.366-4007C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,2.399,0.002,1KG_EUR_AF,EDN3
484023,20:57892070:A>T,NM_207034.2:c.366-4002A>T,\N,\N,2/4,Unknown significance,\N,intron_variant,0.758,\N,\N,EDN3
484024,20:57892073:C>G,NM_207034.2:c.366-3999C>G,\N,\N,2/4,Unknown significance,\N,intron_variant,1.828,0.0008,1KG_AFR_AF,EDN3
484025,20:57892076:G>A,NM_207034.2:c.366-3996G>A,\N,\N,2/4,Benign,\N,intron_variant,0.551,0.0098,1KG_AFR_AF,EDN3
484026,20:57892091:G>A,NM_207034.2:c.366-3981G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,2.182,\N,\N,EDN3
484027,20:57892114:G>A,NM_207034.2:c.366-3958G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,2.166,\N,\N,EDN3
484028,20:57892129:G>T,NM_207034.2:c.366-3943G>T,\N,\N,2/4,Unknown significance,\N,intron_variant,1.398,0.0014,1KG_AMR_AF,EDN3
484029,20:57892135:C>T,NM_207034.2:c.366-3937C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,2.51,\N,\N,EDN3
484030,20:57892136:C>G,NM_207034.2:c.366-3936C>G,\N,\N,2/4,Benign,\N,intron_variant,0.177,0.6218,1KG_AFR_AF,EDN3
484031,20:57892136:C>T,NM_207034.2:c.366-3936C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,0.454,\N,\N,EDN3
484032,20:57892153:G>A,NM_207034.2:c.366-3919G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,0.5,\N,\N,EDN3
484033,20:57892205:C>T,NM_207034.2:c.366-3867C>T,\N,\N,2/4,Benign,\N,intron_variant,2.391,0.006,1KG_EAS_AF,EDN3
484034,20:57892231:T>A,NM_207034.2:c.366-3841T>A,\N,\N,2/4,Unknown significance,\N,intron_variant,3.42,\N,\N,EDN3
484035,20:57892243:A>G,NM_207034.2:c.366-3829A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,3.44,\N,\N,EDN3
484036,20:57892254:C>T,NM_207034.2:c.366-3818C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,0.521,0.0015,1KG_AFR_AF,EDN3
484037,20:57892263:T>A,NM_207034.2:c.366-3809T>A,\N,\N,2/4,Unknown significance,\N,intron_variant,1.089,0.001,1KG_EUR_AF,EDN3
484038,20:57892282:A>G,NM_207034.2:c.366-3790A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,1.613,0.0008,1KG_AFR_AF,EDN3
484039,20:57892300:G>T,NM_207034.2:c.366-3772G>T,\N,\N,2/4,Benign,\N,intron_variant,0.094,0.1889,1KG_EUR_AF,EDN3
484040,20:57892309:C>T,NM_207034.2:c.366-3763C>T,\N,\N,2/4,Benign,\N,intron_variant,0.116,0.007,1KG_EUR_AF,EDN3
484041,20:57892310:G>A,NM_207034.2:c.366-3762G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,1.203,0.0008,1KG_AFR_AF,EDN3
484042,20:57892331:G>T,NM_207034.2:c.366-3741G>T,\N,\N,2/4,Unknown significance,\N,intron_variant,0.42,\N,\N,EDN3
484043,20:57892338:C>A,NM_207034.2:c.366-3734C>A,\N,\N,2/4,Unknown significance,\N,intron_variant,3.244,\N,\N,EDN3
484044,20:57892363:C>T,NM_207034.2:c.366-3709C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,1.99,\N,\N,EDN3
484045,20:57892372:T>C,NM_207034.2:c.366-3700T>C,\N,\N,2/4,Unknown significance,\N,intron_variant,7.63,\N,\N,EDN3
484046,20:57892375:C>T,NM_207034.2:c.366-3697C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,10.02,\N,\N,EDN3
484047,20:57892418:T>C,NM_207034.2:c.366-3654T>C,\N,\N,2/4,Unknown significance,\N,intron_variant,1.319,\N,\N,EDN3
484048,20:57892420:C>T,NM_207034.2:c.366-3652C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,4.255,\N,\N,EDN3
484049,20:57892449:A>G,NM_207034.2:c.366-3623A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,3.864,\N,\N,EDN3
484050,20:57892459:C>A,NM_207034.2:c.366-3613C>A,\N,\N,2/4,Unknown significance,\N,intron_variant,3.946,0.0014,1KG_AMR_AF,EDN3
484051,20:57892461:A>G,NM_207034.2:c.366-3611A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,0.127,\N,\N,EDN3
484052,20:57892509:A>G,NM_207034.2:c.366-3563A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,4.783,0.001,1KG_EAS_AF,EDN3
484053,20:57892529:C>T,NM_207034.2:c.366-3543C>T,\N,\N,2/4,Benign,\N,intron_variant,3.305,0.5136,1KG_AFR_AF,EDN3
484054,20:57892545:G>A,NM_207034.2:c.366-3527G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,0.876,0.0014,1KG_AMR_AF,EDN3
484055,20:57892561:A>C,NM_207034.2:c.366-3511A>C,\N,\N,2/4,Unknown significance,\N,intron_variant,1.168,0.0014,1KG_AMR_AF,EDN3
484056,20:57892577:A>G,NM_207034.2:c.366-3495A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,4.502,0.0008,1KG_AFR_AF,EDN3
484057,20:57892674:G>A,NM_207034.2:c.366-3398G>A,\N,\N,2/4,Benign,\N,intron_variant,0.491,0.1536,1KG_AFR_AF,EDN3
484058,20:57892695:C>T,NM_207034.2:c.366-3377C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,6.626,\N,\N,EDN3
484059,20:57892707:G>A,NM_207034.2:c.366-3365G>A,\N,\N,2/4,Benign,\N,intron_variant,5.711,0.0431,1KG_AFR_AF,EDN3
484060,20:57892724:C>T,NM_207034.2:c.366-3348C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,4.311,0.0014,1KG_AMR_AF,EDN3
484061,20:57892762:A>G,NM_207034.2:c.366-3310A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,3.194,0.003,1KG_EAS_AF,EDN3
484062,20:57892764:A>G,NM_207034.2:c.366-3308A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,1.131,0.001,1KG_SAS_AF,EDN3
484063,20:57892765:T>C,NM_207034.2:c.366-3307T>C,\N,\N,2/4,Unknown significance,\N,intron_variant,0.547,\N,\N,EDN3
484064,20:57892779:G>A,NM_207034.2:c.366-3293G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,3.214,\N,\N,EDN3
484065,20:57892781:A>G,NM_207034.2:c.366-3291A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,4.927,\N,\N,EDN3
484066,20:57892808:G>C,NM_207034.2:c.366-3264G>C,\N,\N,2/4,Unknown significance,\N,intron_variant,7.003,0.002,1KG_SAS_AF,EDN3
484067,20:57892814:A>G,NM_207034.2:c.366-3258A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,10.21,\N,\N,EDN3
484068,20:57892825:T>C,NM_207034.2:c.366-3247T>C,\N,\N,2/4,Unknown significance,\N,intron_variant,9.938,\N,\N,EDN3
484069,20:57892864:C>A,NM_207034.2:c.366-3208C>A,\N,\N,2/4,Unknown significance,\N,intron_variant,7.749,0.0015,1KG_AFR_AF,EDN3
484070,20:57892891:CAAT>C,NM_207034.2:c.366-3177_366-3175del,\N,\N,2/4,Unknown significance,\N,intron_variant,5.536,0.003,1KG_EAS_AF,EDN3
484071,20:57892904:G>T,NM_207034.2:c.366-3168G>T,\N,\N,2/4,Unknown significance,\N,intron_variant,0.373,\N,\N,EDN3
484072,20:57892959:C>T,NM_207034.2:c.366-3113C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,2.243,\N,\N,EDN3
484073,20:57892966:G>A,NM_207034.2:c.366-3106G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,1.567,0.0041,1KG_SAS_AF,EDN3
484074,20:57892975:G>A,NM_207034.2:c.366-3097G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,3.227,\N,\N,EDN3
484075,20:57893009:C>T,NM_207034.2:c.366-3063C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,3.67,0.0008,1KG_AFR_AF,EDN3
484076,20:57893028:T>G,NM_207034.2:c.366-3044T>G,\N,\N,2/4,Unknown significance,\N,intron_variant,6.677,0.001,1KG_EUR_AF,EDN3
484077,20:57893046:C>T,NM_207034.2:c.366-3026C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,0.855,\N,\N,EDN3
484078,20:57893102:T>C,NM_207034.2:c.366-2970T>C,\N,\N,2/4,Unknown significance,\N,intron_variant,2.797,\N,\N,EDN3
484079,20:57893106:C>A,NM_207034.2:c.366-2966C>A,\N,\N,2/4,Unknown significance,\N,intron_variant,3.728,\N,\N,EDN3
484080,20:57893109:T>A,NM_207034.2:c.366-2963T>A,\N,\N,2/4,Benign,\N,intron_variant,6.739,0.0225,1KG_SAS_AF,EDN3
484081,20:57893127:A>G,NM_207034.2:c.366-2945A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,1.031,\N,\N,EDN3
484082,20:57893139:G>A,NM_207034.2:c.366-2933G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,3.556,\N,\N,EDN3
484083,20:57893157:C>T,NM_207034.2:c.366-2915C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,0.432,0.0008,1KG_AFR_AF,EDN3
484084,20:57893176:C>A,NM_207034.2:c.366-2896C>A,\N,\N,2/4,Unknown significance,\N,intron_variant,6.761,0.003,1KG_EAS_AF,EDN3
484085,20:57893195:G>T,NM_207034.2:c.366-2877G>T,\N,\N,2/4,Unknown significance,\N,intron_variant,1.296,0.001,1KG_EAS_AF,EDN3
484086,20:57893210:A>G,NM_207034.2:c.366-2862A>G,\N,\N,2/4,Benign,\N,intron_variant,1.533,0.6248,1KG_AFR_AF,EDN3
484087,20:57893216:A>G,NM_207034.2:c.366-2856A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,1.698,\N,\N,EDN3
484088,20:57893253:A>T,NM_207034.2:c.366-2819A>T,\N,\N,2/4,Benign,\N,intron_variant,0.37,0.0514,1KG_AFR_AF,EDN3
484089,20:57893297:C>T,NM_207034.2:c.366-2775C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,1.034,0.001,1KG_SAS_AF,EDN3
484090,20:57893354:C>T,NM_207034.2:c.366-2718C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,3.863,\N,\N,EDN3
484091,20:57893369:A>C,NM_207034.2:c.366-2703A>C,\N,\N,2/4,Unknown significance,\N,intron_variant,1.249,0.0015,1KG_AFR_AF,EDN3
484092,20:57893373:C>T,NM_207034.2:c.366-2699C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,4.158,\N,\N,EDN3
484093,20:57893378:C>T,NM_207034.2:c.366-2694C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,1.702,\N,\N,EDN3
484094,20:57893411:A>T,NM_207034.2:c.366-2661A>T,\N,\N,2/4,Unknown significance,\N,intron_variant,1.451,0.0031,1KG_SAS_AF,EDN3
484095,20:57893433:T>C,NM_207034.2:c.366-2639T>C,\N,\N,2/4,Unknown significance,\N,intron_variant,1.915,0.001,1KG_EAS_AF,EDN3
484096,20:57893443:A>C,NM_207034.2:c.366-2629A>C,\N,\N,2/4,Unknown significance,\N,intron_variant,2.397,0.001,1KG_EUR_AF,EDN3
484097,20:57893451:C>T,NM_207034.2:c.366-2621C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,4.356,0.001,1KG_SAS_AF,EDN3
484098,20:57893476:C>T,NM_207034.2:c.366-2596C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,1.947,0.001,1KG_SAS_AF,EDN3
484099,20:57893477:G>A,NM_207034.2:c.366-2595G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,1.238,\N,\N,EDN3
484100,20:57893480:T>C,NM_207034.2:c.366-2592T>C,\N,\N,2/4,Benign,\N,intron_variant,3.752,0.0068,1KG_AFR_AF,EDN3
484101,20:57893484:G>A,NM_207034.2:c.366-2588G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,2.697,0.0014,1KG_AMR_AF,EDN3
484102,20:57893543:C>T,NM_207034.2:c.366-2529C>T,\N,\N,2/4,Benign,\N,intron_variant,1.545,0.0076,1KG_AFR_AF,EDN3
484103,20:57893544:G>A,NM_207034.2:c.366-2528G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,1.812,0.0023,1KG_AFR_AF,EDN3
484104,20:57893545:C>G,NM_207034.2:c.366-2527C>G,\N,\N,2/4,Unknown significance,\N,intron_variant,1.261,\N,\N,EDN3
484105,20:57893545:C>T,NM_207034.2:c.366-2527C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,2.458,0.001,1KG_SAS_AF,EDN3
484106,20:57893569:A>G,NM_207034.2:c.366-2503A>G,\N,\N,2/4,Benign,\N,intron_variant,1.264,0.008,1KG_EUR_AF,EDN3
484107,20:57893588:C>G,NM_207034.2:c.366-2484C>G,\N,\N,2/4,Benign,\N,intron_variant,5.573,0.0187,1KG_AMR_AF,EDN3
484108,20:57893595:G>A,NM_207034.2:c.366-2477G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,1.665,0.001,1KG_EUR_AF,EDN3
484109,20:57893613:C>T,NM_207034.2:c.366-2459C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,3.938,\N,\N,EDN3
484110,20:57893617:C>T,NM_207034.2:c.366-2455C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,2.444,0.001,1KG_EAS_AF,EDN3
484111,20:57893634:T>A,NM_207034.2:c.366-2438T>A,\N,\N,2/4,Unknown significance,\N,intron_variant,5.728,\N,\N,EDN3
484112,20:57893643:G>A,NM_207034.2:c.366-2429G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,0.223,\N,\N,EDN3
484113,20:57893707:G>A,NM_207034.2:c.366-2365G>A,\N,\N,2/4,Benign,\N,intron_variant,0.03,0.0079,1KG_EAS_AF,EDN3
484114,20:57893713:C>T,NM_207034.2:c.366-2359C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,4.947,0.0015,1KG_AFR_AF,EDN3
484115,20:57893737:C>G,NM_207034.2:c.366-2335C>G,\N,\N,2/4,Unknown significance,\N,intron_variant,3.265,0.001,1KG_EAS_AF,EDN3
484116,20:57893750:T>C,NM_207034.2:c.366-2322T>C,\N,\N,2/4,Unknown significance,\N,intron_variant,4.295,0.001,1KG_SAS_AF,EDN3
484117,20:57893753:C>T,NM_207034.2:c.366-2319C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,2.217,\N,\N,EDN3
484118,20:57893755:C>T,NM_207034.2:c.366-2317C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,4.672,0.002,1KG_SAS_AF,EDN3
484119,20:57893762:C>T,NM_207034.2:c.366-2310C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,3.339,0.002,1KG_EUR_AF,EDN3
484120,20:57893763:G>A,NM_207034.2:c.366-2309G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,1.356,0.0008,1KG_AFR_AF,EDN3
484121,20:57893766:C>T,NM_207034.2:c.366-2306C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,2.987,\N,\N,EDN3
484122,20:57893813:G>T,NM_207034.2:c.366-2259G>T,\N,\N,2/4,Unknown significance,\N,intron_variant,3.018,\N,\N,EDN3
484123,20:57893871:G>A,NM_207034.2:c.366-2201G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,1.166,\N,\N,EDN3
484124,20:57893882:A>G,NM_207034.2:c.366-2190A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,13.72,\N,\N,EDN3
484125,20:57893908:C>G,NM_207034.2:c.366-2164C>G,\N,\N,2/4,Unknown significance,\N,intron_variant,20.1,0.001,1KG_SAS_AF,EDN3
484126,20:57893945:A>G,NM_207034.2:c.366-2127A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,16.1,0.0031,1KG_SAS_AF,EDN3
484127,20:57893989:A>C,NM_207034.2:c.366-2083A>C,\N,\N,2/4,Unknown significance,\N,intron_variant,17.38,\N,\N,EDN3
484128,20:57894000:T>G,NM_207034.2:c.366-2072T>G,\N,\N,2/4,Unknown significance,\N,intron_variant,17.22,0.001,1KG_EUR_AF,EDN3
484129,20:57894109:C>T,NM_207034.2:c.366-1963C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,3.616,\N,\N,EDN3
484130,20:57894120:C>T,NM_207034.2:c.366-1952C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,1.644,0.001,1KG_SAS_AF,EDN3
484131,20:57894124:C>T,NM_207034.2:c.366-1948C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,2.299,\N,\N,EDN3
484132,20:57894132:A>C,NM_207034.2:c.366-1940A>C,\N,\N,2/4,Unknown significance,\N,intron_variant,1.152,\N,\N,EDN3
484133,20:57894138:C>T,NM_207034.2:c.366-1934C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,5.908,0.0015,1KG_AFR_AF,EDN3
484134,20:57894175:G>A,NM_207034.2:c.366-1897G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,0.196,0.0014,1KG_AMR_AF,EDN3
484135,20:57894202:C>T,NM_207034.2:c.366-1870C>T,\N,\N,2/4,Benign,\N,intron_variant,0.704,0.025,1KG_AFR_AF,EDN3
484136,20:57894203:G>A,NM_207034.2:c.366-1869G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,1.306,0.002,1KG_SAS_AF,EDN3
484137,20:57894203:G>C,NM_207034.2:c.366-1869G>C,\N,\N,2/4,Unknown significance,\N,intron_variant,0.221,\N,\N,EDN3
484138,20:57894207:C>A,NM_207034.2:c.366-1865C>A,\N,\N,2/4,Unknown significance,\N,intron_variant,6.071,\N,\N,EDN3
484139,20:57894230:C>T,NM_207034.2:c.366-1842C>T,\N,\N,2/4,Benign,\N,intron_variant,4.578,0.0288,1KG_EAS_AF,EDN3
484140,20:57894253:T>C,NM_207034.2:c.366-1819T>C,\N,\N,2/4,Unknown significance,\N,intron_variant,1.833,0.001,1KG_SAS_AF,EDN3
484141,20:57894291:C>T,NM_207034.2:c.366-1781C>T,\N,\N,2/4,Benign,\N,intron_variant,1.37,0.025,1KG_AFR_AF,EDN3
484142,20:57894299:G>A,NM_207034.2:c.366-1773G>A,\N,\N,2/4,Benign,\N,intron_variant,1.723,0.0082,1KG_SAS_AF,EDN3
484143,20:57894301:G>A,NM_207034.2:c.366-1771G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,4.102,\N,\N,EDN3
484144,20:57894342:C>T,NM_207034.2:c.366-1730C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,1.09,\N,\N,EDN3
484145,20:57894343:G>A,NM_207034.2:c.366-1729G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,3.174,0.001,1KG_EUR_AF,EDN3
484146,20:57894348:C>T,NM_207034.2:c.366-1724C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,3.154,0.001,1KG_SAS_AF,EDN3
484147,20:57894349:G>A,NM_207034.2:c.366-1723G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,3.01,\N,\N,EDN3
484148,20:57894359:C>T,NM_207034.2:c.366-1713C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,3.015,0.0008,1KG_AFR_AF,EDN3
484149,20:57894378:A>G,NM_207034.2:c.366-1694A>G,\N,\N,2/4,Benign,\N,intron_variant,3.752,0.1909,1KG_EUR_AF,EDN3
484150,20:57894396:A>G,NM_207034.2:c.366-1676A>G,\N,\N,2/4,Benign,\N,intron_variant,0.282,0.0197,1KG_AFR_AF,EDN3
484151,20:57894402:C>T,NM_207034.2:c.366-1670C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,5.863,0.001,1KG_EUR_AF,EDN3
484152,20:57894419:G>A,NM_207034.2:c.366-1653G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,3.841,\N,\N,EDN3
484153,20:57894448:G>T,NM_207034.2:c.366-1624G>T,\N,\N,2/4,Unknown significance,\N,intron_variant,17.63,\N,\N,EDN3
484154,20:57894482:G>A,NM_207034.2:c.366-1590G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,3.577,0.0014,1KG_AMR_AF,EDN3
484155,20:57894486:G>A,NM_207034.2:c.366-1586G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,2.036,0.001,1KG_EAS_AF,EDN3
484156,20:57894541:C>T,NM_207034.2:c.366-1531C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,2.056,\N,\N,EDN3
484157,20:57894558:A>G,NM_207034.2:c.366-1514A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,0.952,0.0008,1KG_AFR_AF,EDN3
484158,20:57894560:A>T,NM_207034.2:c.366-1512A>T,\N,\N,2/4,Unknown significance,\N,intron_variant,0.742,\N,\N,EDN3
484159,20:57894613:A>T,NM_207034.2:c.366-1459A>T,\N,\N,2/4,Benign,\N,intron_variant,0.377,0.0113,1KG_AFR_AF,EDN3
484160,20:57894616:A>T,NM_207034.2:c.366-1456A>T,\N,\N,2/4,Unknown significance,\N,intron_variant,1.108,\N,\N,EDN3
484161,20:57894619:A>C,NM_207034.2:c.366-1453A>C,\N,\N,2/4,Unknown significance,\N,intron_variant,0.747,\N,\N,EDN3
484162,20:57894638:G>A,NM_207034.2:c.366-1434G>A,\N,\N,2/4,Benign,\N,intron_variant,0.252,0.0061,1KG_AFR_AF,EDN3
484163,20:57894641:C>T,NM_207034.2:c.366-1431C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,1.326,0.002,1KG_EAS_AF,EDN3
484164,20:57894642:G>A,NM_207034.2:c.366-1430G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,0.162,\N,\N,EDN3
484165,20:57894689:G>A,NM_207034.2:c.366-1383G>A,\N,\N,2/4,Benign,\N,intron_variant,0.438,0.0179,1KG_EUR_AF,EDN3
484166,20:57894704:C>T,NM_207034.2:c.366-1368C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,1.883,0.001,1KG_EUR_AF|1KG_SAS_AF,EDN3
484167,20:57894705:G>A,NM_207034.2:c.366-1367G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,0.203,\N,\N,EDN3
484168,20:57894717:G>A,NM_207034.2:c.366-1355G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,4.167,0.0023,1KG_AFR_AF,EDN3
484169,20:57894781:CA>C,NM_207034.2:c.366-1275del,\N,\N,2/4,Benign,\N,intron_variant,4.21,0.2201,1KG_AFR_AF,EDN3
484170,20:57894797:A>AG,NM_207034.2:c.366-1274dup,\N,\N,2/4,Unknown significance,\N,intron_variant,0.181,\N,\N,EDN3
484171,20:57894798:G>A,NM_207034.2:c.366-1274G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,2.28,\N,\N,EDN3
484172,20:57894827:A>G,NM_207034.2:c.366-1245A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,5.303,0.003,1KG_EUR_AF,EDN3
484173,20:57894868:T>C,NM_207034.2:c.366-1204T>C,\N,\N,2/4,Unknown significance,\N,intron_variant,13.71,\N,\N,EDN3
484174,20:57894869:G>A,NM_207034.2:c.366-1203G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,13.91,\N,\N,EDN3
484175,20:57894878:G>A,NM_207034.2:c.366-1194G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,9.05,\N,\N,EDN3
484176,20:57894882:T>C,NM_207034.2:c.366-1190T>C,\N,\N,2/4,Unknown significance,\N,intron_variant,3.7,0.0008,1KG_AFR_AF,EDN3
484177,20:57894915:C>T,NM_207034.2:c.366-1157C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,0.271,0.001,1KG_EUR_AF,EDN3
484178,20:57894986:A>AT,NM_207034.2:c.366-1084dup,\N,\N,2/4,Unknown significance,\N,intron_variant,\N,\N,\N,EDN3
484179,20:57894990:G>C,NM_207034.2:c.366-1082G>C,\N,\N,2/4,Benign,\N,intron_variant,7.958,0.0658,1KG_AFR_AF,EDN3
484180,20:57894999:T>C,NM_207034.2:c.366-1073T>C,\N,\N,2/4,Unknown significance,\N,intron_variant,8.272,\N,\N,EDN3
484181,20:57895030:G>C,NM_207034.2:c.366-1042G>C,\N,\N,2/4,Unknown significance,\N,intron_variant,5.896,0.001,1KG_EUR_AF,EDN3
484182,20:57895046:C>T,NM_207034.2:c.366-1026C>T,\N,\N,2/4,Benign,\N,intron_variant,5.294,0.0164,1KG_SAS_AF,EDN3
484183,20:57895106:A>T,NM_207034.2:c.366-966A>T,\N,\N,2/4,Unknown significance,\N,intron_variant,2.561,0.001,1KG_EAS_AF,EDN3
484184,20:57895127:C>G,NM_207034.2:c.366-945C>G,\N,\N,2/4,Unknown significance,\N,intron_variant,0.221,0.001,1KG_EAS_AF,EDN3
484185,20:57895127:C>T,NM_207034.2:c.366-945C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,0.463,\N,\N,EDN3
484186,20:57895129:G>T,NM_207034.2:c.366-943G>T,\N,\N,2/4,Unknown significance,\N,intron_variant,1.036,0.001,1KG_SAS_AF,EDN3
484187,20:57895151:T>C,NM_207034.2:c.366-921T>C,\N,\N,2/4,Unknown significance,\N,intron_variant,2.549,\N,\N,EDN3
484188,20:57895157:T>G,NM_207034.2:c.366-915T>G,\N,\N,2/4,Unknown significance,\N,intron_variant,5.33,0.0015,1KG_AFR_AF,EDN3
484189,20:57895182:C>T,NM_207034.2:c.366-890C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,0.271,0.001,1KG_EUR_AF,EDN3
484190,20:57895220:G>A,NM_207034.2:c.366-852G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,4.03,0.0008,1KG_AFR_AF,EDN3
484191,20:57895225:T>C,NM_207034.2:c.366-847T>C,\N,\N,2/4,Unknown significance,\N,intron_variant,2.131,0.002,1KG_EUR_AF,EDN3
484192,20:57895238:T>A,NM_207034.2:c.366-834T>A,\N,\N,2/4,Benign,\N,intron_variant,4.783,0.0061,1KG_AFR_AF,EDN3
484193,20:57895247:A>G,NM_207034.2:c.366-825A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,2.097,0.001,1KG_EAS_AF,EDN3
484194,20:57895264:C>T,NM_207034.2:c.366-808C>T,\N,\N,2/4,Benign,\N,intron_variant,1.547,0.0187,1KG_AMR_AF,EDN3
484195,20:57895291:T>C,NM_207034.2:c.366-781T>C,\N,\N,2/4,Unknown significance,\N,intron_variant,1.609,0.002,1KG_EUR_AF,EDN3
484196,20:57895308:G>A,NM_207034.2:c.366-764G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,5.619,0.001,1KG_SAS_AF,EDN3
484197,20:57895335:G>A,NM_207034.2:c.366-737G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,7.747,0.0008,1KG_AFR_AF,EDN3
484198,20:57895337:C>T,NM_207034.2:c.366-735C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,3.178,0.0008,1KG_AFR_AF,EDN3
484199,20:57895413:T>C,NM_207034.2:c.366-659T>C,\N,\N,2/4,Benign,\N,intron_variant,3.709,0.4939,1KG_AFR_AF,EDN3
484200,20:57895438:C>T,NM_207034.2:c.366-634C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,5.1,\N,\N,EDN3
484201,20:57895447:C>G,NM_207034.2:c.366-625C>G,\N,\N,2/4,Unknown significance,\N,intron_variant,0.766,\N,\N,EDN3
484202,20:57895475:G>A,NM_207034.2:c.366-597G>A,\N,\N,2/4,Benign,\N,intron_variant,0.029,0.005,1KG_EAS_AF,EDN3
484203,20:57895478:G>A,NM_207034.2:c.366-594G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,5.169,0.001,1KG_SAS_AF,EDN3
484204,20:57895532:C>T,NM_207034.2:c.366-540C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,6.084,\N,\N,EDN3
484205,20:57895537:G>T,NM_207034.2:c.366-535G>T,\N,\N,2/4,Unknown significance,\N,intron_variant,0.761,0.001,1KG_SAS_AF,EDN3
484206,20:57895548:A>G,NM_207034.2:c.366-524A>G,\N,\N,2/4,Unknown significance,\N,intron_variant,0.589,\N,\N,EDN3
484207,20:57895594:G>C,NM_207034.2:c.366-478G>C,\N,\N,2/4,Unknown significance,\N,intron_variant,1.148,0.001,1KG_EAS_AF,EDN3
484208,20:57895618:G>A,NM_207034.2:c.366-454G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,1.992,\N,\N,EDN3
484209,20:57895636:C>T,NM_207034.2:c.366-436C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,2.331,0.0014,1KG_AMR_AF,EDN3
484210,20:57895646:A>C,NM_207034.2:c.366-426A>C,\N,\N,2/4,Unknown significance,\N,intron_variant,3.876,0.001,1KG_SAS_AF,EDN3
484211,20:57895650:C>T,NM_207034.2:c.366-422C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,5.166,0.003,1KG_AFR_AF,EDN3
484212,20:57895701:C>T,NM_207034.2:c.366-371C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,0.185,\N,\N,EDN3
484213,20:57895713:G>C,NM_207034.2:c.366-359G>C,\N,\N,2/4,Unknown significance,\N,intron_variant,1.808,0.001,1KG_SAS_AF,EDN3
484214,20:57895715:G>A,NM_207034.2:c.366-357G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,4.52,\N,\N,EDN3
484215,20:57895716:C>T,NM_207034.2:c.366-356C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,2.04,\N,\N,EDN3
484216,20:57895717:G>A,NM_207034.2:c.366-355G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,1.105,0.001,1KG_EAS_AF,EDN3
484217,20:57895725:C>G,NM_207034.2:c.366-347C>G,\N,\N,2/4,Unknown significance,\N,intron_variant,3.094,0.0015,1KG_AFR_AF,EDN3
484218,20:57895733:C>T,NM_207034.2:c.366-339C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,4.816,0.0008,1KG_AFR_AF,EDN3
484219,20:57895758:G>A,NM_207034.2:c.366-314G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,5.725,0.0014,1KG_AMR_AF,EDN3
484220,20:57895776:C>T,NM_207034.2:c.366-296C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,5.143,0.0015,1KG_AFR_AF,EDN3
484221,20:57895790:C>T,NM_207034.2:c.366-282C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,4.067,0.002,1KG_SAS_AF,EDN3
484222,20:57895791:G>A,NM_207034.2:c.366-281G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,0.935,0,1KG_ALL_AF|1KG_AFR_AF|1KG_AMR_AF|1KG_EAS_AF|1KG_EUR_AF|1KG_SAS_AF,EDN3
484223,20:57895821:G>A,NM_207034.2:c.366-251G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,13.51,\N,\N,EDN3
484224,20:57895825:A>C,NM_207034.2:c.366-247A>C,\N,\N,2/4,Unknown significance,\N,intron_variant,0.06,0.0038,1KG_AFR_AF,EDN3
484225,20:57895847:C>A,NM_207034.2:c.366-225C>A,\N,\N,2/4,Unknown significance,\N,intron_variant,3.27,0.003,1KG_EAS_AF,EDN3
484226,20:57895875:C>G,NM_207034.2:c.366-197C>G,\N,\N,2/4,Unknown significance,\N,intron_variant,4.644,0.0008,1KG_AFR_AF,EDN3
484227,20:57895882:G>A,NM_207034.2:c.366-190G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,2.846,\N,\N,EDN3
484228,20:57895885:G>A,NM_207034.2:c.366-187G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,0.447,\N,\N,EDN3
484229,20:57895891:G>A,NM_207034.2:c.366-181G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,0.64,0.001,1KG_EAS_AF,EDN3
484230,20:57895892:G>A,NM_207034.2:c.366-180G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,2.463,\N,\N,EDN3
484231,20:57895899:G>T,NM_207034.2:c.366-173G>T,\N,\N,2/4,Unknown significance,\N,intron_variant,0.689,\N,\N,EDN3
484232,20:57895983:C>G,NM_207034.2:c.366-89C>G,\N,\N,2/4,Unknown significance,\N,intron_variant,4.378,0.001,1KG_EAS_AF,EDN3
484233,20:57895988:C>T,NM_207034.2:c.366-84C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,0.363,0.001,1KG_EAS_AF,EDN3
484234,20:57895989:G>A,NM_207034.2:c.366-83G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,0.21,0.001,1KG_EUR_AF,EDN3
484235,20:57895998:C>T,NM_207034.2:c.366-74C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,1.388,0.001,1KG_EAS_AF,EDN3
484236,20:57896016:G>C,NM_207034.2:c.366-56G>C,\N,\N,2/4,Benign,\N,intron_variant,1.163,0.0166,1KG_AFR_AF,EDN3
484237,20:57896026:A>C,NM_207034.2:c.366-46A>C,\N,\N,2/4,Unknown significance,\N,intron_variant,0.234,0.000154036,EXAC_FIN_AF,EDN3
484238,20:57896029:G>A,NM_207034.2:c.366-43G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,3.016,0.000121655,EXAC_SAS_AF,EDN3
484239,20:57896032:G>T,NM_207034.2:c.366-40G>T,\N,\N,2/4,Unknown significance,\N,intron_variant,0.765,0.0000969368,EXAC_AFR_AF,EDN3
484240,20:57896036:G>C,NM_207034.2:c.366-36G>C,\N,\N,2/4,Unknown significance,\N,intron_variant,0.704,0.000045159,EXAC_NFE_AF,EDN3
484241,20:57896042:G>A,NM_207034.2:c.366-30G>A,\N,\N,2/4,Unknown significance,\N,intron_variant,3.592,0.000116279,EVS_EA_AF,EDN3
484242,20:57896043:C>G,NM_207034.2:c.366-29C>G,\N,\N,2/4,Unknown significance,\N,intron_variant,2.771,\N,\N,EDN3
484243,20:57896048:C>T,NM_207034.2:c.366-24C>T,\N,\N,2/4,Unknown significance,\N,intron_variant,7.31,0.0000150209,EXAC_NFE_AF,EDN3
484244,20:57896064:C>T,NM_207034.2:c.366-8C>T,\N,\N,2/4,Unknown significance,\N,splice_region_variant&intron_variant,11.91,0.000181973,EXAC_SAS_AF,EDN3
484245,20:57896078:G>A,NM_207034.2:c.372G>A,NP_996917.1:p.Thr124=,3/5,\N,Unknown significance,\N,synonymous_variant,10.55,0.0000962094,EXAC_AFR_AF,EDN3
484246,20:57896079:G>T,NM_207034.2:c.373G>T,NP_996917.1:p.Val125Leu,3/5,\N,Unknown significance,\N,missense_variant,24,\N,\N,EDN3
484247,20:57896086:A>G,NM_207034.2:c.380A>G,NP_996917.1:p.Tyr127Cys,3/5,\N,Pathogenic,Waardenburg-Hirschsprung disease,missense_variant,27.2,0.00011558,EXAC_EAS_AF,EDN3
484248,20:57896097:A>G,NM_207034.2:c.391A>G,NP_996917.1:p.Asn131Asp,3/5,\N,Unknown significance,\N,missense_variant,26.3,0.0000149903,EXAC_NFE_AF,EDN3
484249,20:57896099:C>G,NM_207034.2:c.393C>G,NP_996917.1:p.Asn131Lys,3/5,\N,Unknown significance,\N,missense_variant,26.2,0.0000961538,EXAC_AFR_AF,EDN3
484250,20:57896099:C>T,NM_207034.2:c.393C>T,NP_996917.1:p.Asn131=,3/5,\N,Unknown significance,\N,synonymous_variant,11.53,0.00011558,EXAC_EAS_AF,EDN3
484251,20:57896110:G>T,NM_207034.2:c.404G>T,NP_996917.1:p.Ser135Ile,3/5,\N,Unknown significance,\N,missense_variant,24.1,0.00015124,EXAC_FIN_AF,EDN3
484252,20:57896116:G>A,NM_207034.2:c.410G>A,NP_996917.1:p.Arg137Gln,3/5,\N,Unknown significance,\N,missense_variant,33,0.00011558,EXAC_EAS_AF,EDN3
484253,20:57896116:G>T,NM_207034.2:c.410G>T,NP_996917.1:p.Arg137Leu,3/5,\N,Unknown significance,\N,missense_variant,32,0.0000149862,EXAC_NFE_AF,EDN3
484254,20:57896120:C>T,NM_207034.2:c.414C>T,NP_996917.1:p.Gly138=,3/5,\N,Unknown significance,\N,synonymous_variant,12.55,0.0011558,EXAC_EAS_AF,EDN3
484255,20:57896131:C>T,NM_207034.2:c.425C>T,NP_996917.1:p.Ala142Val,3/5,\N,Likely benign,\N,missense_variant,9.097,0.001,1KG_SAS_AF,EDN3
484256,20:57896132:G>A,NM_207034.2:c.426G>A,NP_996917.1:p.Ala142=,3/5,\N,Benign,\N,synonymous_variant,11.81,0.0159,1KG_EAS_AF,EDN3
484257,20:57896149:A>G,NM_207034.2:c.443A>G,NP_996917.1:p.Asn148Ser,3/5,\N,Likely benign,\N,missense_variant,0.001,0.00011558,EXAC_EAS_AF,EDN3
484258,20:57896151:C>A,NM_207034.2:c.445C>A,NP_996917.1:p.Leu149Met,3/5,\N,Likely benign,\N,missense_variant,12.15,0.000060562,EXAC_SAS_AF,EDN3
484259,20:57896157:C>T,NM_207033.1:c.451C>T,NP_996916.1:p.Leu151Phe,3/4,\N,Likely benign,\N,missense_variant,16.4,0.000346741,EXAC_EAS_AF,EDN3
484260,20:57896161:C>T,NM_207034.2:c.455C>T,NP_996917.1:p.Ser152Leu,3/5,\N,Likely benign,\N,missense_variant,10.56,0.0000149853,EXAC_NFE_AF,EDN3
484261,20:57896164:A>G,NM_207034.2:c.458A>G,NP_996917.1:p.His153Arg,3/5,\N,Likely benign,\N,missense_variant,0.001,0.00023116,EXAC_EAS_AF,EDN3
484262,20:57896164:A>T,NM_207034.2:c.458A>T,NP_996917.1:p.His153Leu,3/5,\N,Likely benign,\N,missense_variant,0.056,0.0000149853,EXAC_NFE_AF,EDN3
484263,20:57896166:C>T,NM_207034.2:c.460C>T,NP_996917.1:p.Arg154Trp,3/5,\N,Likely benign,\N,missense_variant,7.446,0.00023116,EXAC_EAS_AF,EDN3
484264,20:57896167:G>A,NM_207034.2:c.461G>A,NP_996917.1:p.Arg154Gln,3/5,\N,Likely benign,\N,missense_variant,3.809,0.000480584,EXAC_AFR_AF,EDN3
484265,20:57896172:C>T,NM_207034.2:c.466C>T,NP_996917.1:p.His156Tyr,3/5,\N,Likely benign,\N,missense_variant,8.277,0.000060562,EXAC_SAS_AF,EDN3
484266,20:57896176:T>C,NM_207034.2:c.470T>C,NP_996917.1:p.Leu157Ser,3/5,\N,Likely benign,\N,missense_variant,0.001,0.000116279,EVS_EA_AF,EDN3
484267,20:57896178:C>A,NM_207034.2:c.472C>A,NP_996917.1:p.Arg158Ser,3/5,\N,Unknown significance,Multiple congenital anomalies; MR/ID/DD; Brain MRI positive; Ataxia _ Audiologic/Otolaryngologic (child onset); Cardiovascular (child onset); Dermatologic (child onset); Endocrine (child onset); Gastrointestinal (child onset); Musculoskeletal/Structural (child onset); Neurologic (child onset); Multiple Congenital Anomalies (+/- Neurodevelopmental symptoms),missense_variant,24.7,0.0000149853,EXAC_NFE_AF,EDN3
484268,20:57896180:C>T,NM_207034.2:c.474C>T,NP_996917.1:p.Arg158=,3/5,\N,Unknown significance,\N,synonymous_variant,7.642,0.000060562,EXAC_SAS_AF,EDN3
484269,20:57896182:G>T,NM_207034.2:c.476G>T,NP_996917.1:p.Cys159Phe,3/5,\N,Pathogenic,Shah-Waardenburg syndrome,missense_variant,24.8,\N,\N,EDN3
484270,20:57896183:C>T,NM_207034.2:c.477C>T,NP_996917.1:p.Cys159=,3/5,\N,Unknown significance,\N,synonymous_variant,10.09,0.000226963,EVS_AA_AF,EDN3
484271,20:57896184:G>A,NM_207034.2:c.478G>A,NP_996917.1:p.Ala160Thr,3/5,\N,Likely benign,\N,missense_variant,0.202,0.0000149849,EXAC_NFE_AF,EDN3
484272,20:57896186:T>C,NM_207034.2:c.480T>C,NP_996917.1:p.Ala160=,3/5,\N,Unknown significance,\N,synonymous_variant,0.029,0.0000149849,EXAC_NFE_AF,EDN3
484273,20:57896190:G>C,NM_207034.2:c.484G>C,NP_996917.1:p.Val162Leu,3/5,\N,Likely benign,\N,missense_variant,0.483,0.0000149853,EXAC_NFE_AF,EDN3
484274,20:57896192:G>A,NM_207034.2:c.486G>A,NP_996917.1:p.Val162=,3/5,\N,Unknown significance,\N,synonymous_variant,2.171,0.000226963,EVS_AA_AF,EDN3
484275,20:57896192:G>T,NM_207034.2:c.486G>T,NP_996917.1:p.Val162=,3/5,\N,Unknown significance,\N,synonymous_variant,0.952,0.0000863707,EXAC_AMR_AF,EDN3
484276,20:57896201:T>C,NM_207034.2:c.495T>C,NP_996917.1:p.Tyr165=,3/5,\N,Unknown significance,\N,synonymous_variant,0.004,0.0008,1KG_AFR_AF,EDN3
484277,20:57896204:C>G,NM_207034.2:c.498C>G,NP_996917.1:p.Asp166Glu,3/5,\N,Pathogenic,Hirschsprung disease,missense_variant,24.2,\N,\N,EDN3
484278,20:57896207:G>A,NM_207034.2:c.501G>A,NP_996917.1:p.Lys167=,3/5,\N,Unknown significance,\N,synonymous_variant,7.528,0.000907853,EVS_AA_AF,EDN3
484279,20:57896208:G>A,NM_207034.2:c.502G>A,NP_996917.1:p.Ala168Thr,3/5,\N,Likely benign,\N,missense_variant,11.45,0.0000149849,EXAC_NFE_AF,EDN3
484280,20:57896213:C>A,NM_207034.2:c.507C>A,NP_996917.1:p.Cys169Ter,3/5,\N,Pathogenic,Waardenburg-Hirschsprung disease,stop_gained,34,\N,\N,EDN3
484281,20:57896213:C>T,NM_207034.2:c.507C>T,NP_996917.1:p.Cys169=,3/5,\N,Unknown significance,\N,synonymous_variant,8.827,0.0008,1KG_AFR_AF,EDN3
484282,20:57896214:C>T,NM_207034.2:c.508C>T,NP_996917.1:p.Leu170=,3/5,\N,Unknown significance,\N,synonymous_variant,7.889,0.000755972,EXAC_FIN_AF,EDN3
484283,20:57896216:G>A,NM_207034.2:c.510G>A,NP_996917.1:p.Leu170=,3/5,\N,Unknown significance,\N,synonymous_variant,1.805,\N,\N,EDN3
484284,20:57896223:T>C,NM_207034.2:c.517T>C,NP_996917.1:p.Cys173Arg,3/5,\N,Pathogenic,Hirschsprung disease,missense_variant,24.2,\N,\N,EDN3
484285,20:57896231:A>G,NM_207034.2:c.525A>G,NP_996917.1:p.Gln175=,3/5,\N,Benign,\N,synonymous_variant,0.214,0.0154718,EXAC_AFR_AF,EDN3
484286,20:57896240:C>T,NM_207034.2:c.534C>T,NP_996917.1:p.Asp178=,3/5,\N,Unknown significance,\N,synonymous_variant,12.72,0.000116279,EVS_EA_AF,EDN3
484287,20:57896241:G>A,NM_207033.1:c.535G>A,NP_996916.1:p.Val179Ile,3/4,\N,Likely benign,\N,missense_variant,8.161,0.00110132,EXAC_OTH_AF,EDN3
484288,20:57896248:G>T,NM_001302456.1:c.542G>T,NP_001289385.1:p.Arg181Met,3/4,\N,Unknown significance,\N,missense_variant&splice_region_variant,22.1,0.001,1KG_SAS_AF,EDN3
484289,20:57896258:C>T,NM_207034.2:c.542+10C>T,\N,\N,3/4,Unknown significance,\N,intron_variant,11.42,0.0000149858,EXAC_NFE_AF,EDN3
484290,20:57896260:C>T,NM_207034.2:c.542+12C>T,\N,\N,3/4,Unknown significance,\N,intron_variant,10.57,0.000226963,EVS_AA_AF,EDN3
484291,20:57896275:A>G,NM_207034.2:c.542+27A>G,\N,\N,3/4,Unknown significance,\N,intron_variant,7.173,0.000060562,EXAC_SAS_AF,EDN3
484292,20:57896285:A>G,NM_207034.2:c.542+37A>G,\N,\N,3/4,Unknown significance,\N,intron_variant,0.885,0.0023,1KG_AFR_AF,EDN3
484293,20:57896294:C>T,NM_207034.2:c.542+46C>T,\N,\N,3/4,Unknown significance,\N,intron_variant,5.041,0.000151194,EXAC_FIN_AF,EDN3
484294,20:57896298:C>T,NM_207034.2:c.542+50C>T,\N,\N,3/4,Unknown significance,\N,intron_variant,0.785,0.00068089,EVS_AA_AF,EDN3
484295,20:57896299:G>A,NM_207034.2:c.542+51G>A,\N,\N,3/4,Unknown significance,\N,intron_variant,1.524,0.0000149894,EXAC_NFE_AF,EDN3
484296,20:57896299:G>C,NM_207034.2:c.542+51G>C,\N,\N,3/4,Unknown significance,\N,intron_variant,0.212,0.00110132,EXAC_OTH_AF,EDN3
484297,20:57896310:G>T,NM_207034.2:c.542+62G>T,\N,\N,3/4,Unknown significance,\N,intron_variant,0.531,0.001,1KG_SAS_AF,EDN3
484298,20:57896329:A>T,NM_207034.2:c.542+81A>T,\N,\N,3/4,Unknown significance,\N,intron_variant,3.715,0.0008,1KG_AFR_AF,EDN3
484299,20:57896332:G>A,NM_207034.2:c.542+84G>A,\N,\N,3/4,Unknown significance,\N,intron_variant,1.793,0.001,1KG_EAS_AF,EDN3
484300,20:57896367:C>T,NM_207034.2:c.542+119C>T,\N,\N,3/4,Benign,\N,intron_variant,1.622,0.0099,1KG_EAS_AF,EDN3
484301,20:57896368:G>A,NM_207034.2:c.542+120G>A,\N,\N,3/4,Unknown significance,\N,intron_variant,0.382,0.0014,1KG_AMR_AF,EDN3
484302,20:57896414:G>T,NM_207034.2:c.542+166G>T,\N,\N,3/4,Unknown significance,\N,intron_variant,0.569,0.0038,1KG_AFR_AF,EDN3
484303,20:57896434:C>G,NM_207034.2:c.542+186C>G,\N,\N,3/4,Unknown significance,\N,intron_variant,1.414,0.001,1KG_EUR_AF,EDN3
484304,20:57896447:G>A,NM_207034.2:c.542+199G>A,\N,\N,3/4,Unknown significance,\N,intron_variant,1.015,\N,\N,EDN3
484305,20:57896447:G>T,NM_207034.2:c.542+199G>T,\N,\N,3/4,Unknown significance,\N,intron_variant,0.312,0.0008,1KG_AFR_AF,EDN3
484306,20:57896493:C>T,NM_207034.2:c.542+245C>T,\N,\N,3/4,Benign,\N,intron_variant,3.883,0.0069,1KG_EAS_AF,EDN3
484307,20:57896494:G>A,NM_207034.2:c.542+246G>A,\N,\N,3/4,Unknown significance,\N,intron_variant,1.492,0.001,1KG_SAS_AF,EDN3
484308,20:57896537:C>T,NM_207034.2:c.542+289C>T,\N,\N,3/4,Unknown significance,\N,intron_variant,2.871,0.0014,1KG_AMR_AF,EDN3
484309,20:57896605:G>A,NM_207034.2:c.542+357G>A,\N,\N,3/4,Unknown significance,\N,intron_variant,2.245,\N,\N,EDN3
484310,20:57896606:C>A,NM_207034.2:c.542+358C>A,\N,\N,3/4,Unknown significance,\N,intron_variant,1.095,\N,\N,EDN3
484311,20:57896653:G>C,NM_207034.2:c.542+405G>C,\N,\N,3/4,Unknown significance,\N,intron_variant,0.309,\N,\N,EDN3
484312,20:57896663:A>AG,NM_207034.2:c.542+423dup,\N,\N,3/4,Benign,\N,intron_variant,0.059,0.1472,1KG_SAS_AF,EDN3
484313,20:57896665:G>C,NM_207034.2:c.542+417G>C,\N,\N,3/4,Unknown significance,\N,intron_variant,0.089,0.001,1KG_SAS_AF,EDN3
484314,20:57896665:G>T,NM_207034.2:c.542+417G>T,\N,\N,3/4,Unknown significance,\N,intron_variant,0.168,0.002,1KG_SAS_AF,EDN3
484315,20:57896666:G>C,NM_207034.2:c.542+418G>C,\N,\N,3/4,Benign,\N,intron_variant,0.08,0.0159,1KG_EAS_AF,EDN3
484316,20:57896667:G>T,NM_207034.2:c.542+419G>T,\N,\N,3/4,Unknown significance,\N,intron_variant,0.218,0.0014,1KG_AMR_AF,EDN3
484317,20:57896673:A>T,NM_207034.2:c.542+425A>T,\N,\N,3/4,Unknown significance,\N,intron_variant,2.006,0.001,1KG_EAS_AF,EDN3
484318,20:57896682:G>A,NM_207034.2:c.542+434G>A,\N,\N,3/4,Benign,\N,intron_variant,4.981,0.0268,1KG_EUR_AF,EDN3
484319,20:57896683:T>C,NM_207034.2:c.542+435T>C,\N,\N,3/4,Unknown significance,\N,intron_variant,4.368,\N,\N,EDN3
484320,20:57896691:T>A,NM_207034.2:c.542+443T>A,\N,\N,3/4,Unknown significance,\N,intron_variant,7.902,0.0008,1KG_AFR_AF,EDN3
484321,20:57896714:C>A,NM_207034.2:c.542+466C>A,\N,\N,3/4,Unknown significance,\N,intron_variant,3.051,\N,\N,EDN3
484322,20:57896766:A>G,NM_207034.2:c.542+518A>G,\N,\N,3/4,Unknown significance,\N,intron_variant,1.278,\N,\N,EDN3
484323,20:57896787:G>A,NM_207034.2:c.542+539G>A,\N,\N,3/4,Unknown significance,\N,intron_variant,3.308,\N,\N,EDN3
484324,20:57896811:G>A,NM_207034.2:c.542+563G>A,\N,\N,3/4,Unknown significance,\N,intron_variant,3.98,\N,\N,EDN3
484325,20:57896843:G>A,NM_207034.2:c.543-584G>A,\N,\N,3/4,Unknown significance,\N,intron_variant,4.326,0.0015,1KG_AFR_AF,EDN3
484326,20:57896868:G>C,NM_207034.2:c.543-559G>C,\N,\N,3/4,Unknown significance,\N,intron_variant,0.798,\N,\N,EDN3
484327,20:57896877:T>C,NM_207034.2:c.543-550T>C,\N,\N,3/4,Unknown significance,\N,intron_variant,2.667,0.001,1KG_SAS_AF,EDN3
484328,20:57896882:T>C,NM_207034.2:c.543-545T>C,\N,\N,3/4,Unknown significance,\N,intron_variant,2.726,0.001,1KG_EAS_AF,EDN3
484329,20:57896919:AG>A,NM_207034.2:c.543-504del,\N,\N,3/4,Unknown significance,\N,intron_variant,\N,\N,\N,EDN3
484330,20:57896945:A>G,NM_207034.2:c.543-482A>G,\N,\N,3/4,Unknown significance,\N,intron_variant,4.775,0.003,1KG_EAS_AF,EDN3
484331,20:57896970:A>G,NM_207034.2:c.543-457A>G,\N,\N,3/4,Unknown significance,\N,intron_variant,2.801,\N,\N,EDN3
484332,20:57897015:G>A,NM_207034.2:c.543-412G>A,\N,\N,3/4,Unknown significance,\N,intron_variant,1.329,\N,\N,EDN3
484333,20:57897021:G>T,NM_207034.2:c.543-406G>T,\N,\N,3/4,Unknown significance,\N,intron_variant,1.294,\N,\N,EDN3
484334,20:57897044:C>T,NM_207034.2:c.543-383C>T,\N,\N,3/4,Unknown significance,\N,intron_variant,1.291,\N,\N,EDN3
484335,20:57897053:G>T,NM_207034.2:c.543-374G>T,\N,\N,3/4,Unknown significance,\N,intron_variant,1.226,0.001,1KG_EAS_AF,EDN3
484336,20:57897055:G>A,NM_207034.2:c.543-372G>A,\N,\N,3/4,Unknown significance,\N,intron_variant,0.403,\N,\N,EDN3
484337,20:57897067:C>T,NM_207034.2:c.543-360C>T,\N,\N,3/4,Unknown significance,\N,intron_variant,2.391,\N,\N,EDN3
484338,20:57897072:A>G,NM_207034.2:c.543-355A>G,\N,\N,3/4,Unknown significance,\N,intron_variant,0.482,0.004,1KG_EUR_AF,EDN3
484339,20:57897095:AG>A,NM_207034.2:c.543-328del,\N,\N,3/4,Unknown significance,\N,intron_variant,\N,\N,\N,EDN3
484340,20:57897097:G>A,NM_207034.2:c.543-330G>A,\N,\N,3/4,Unknown significance,\N,intron_variant,3.287,\N,\N,EDN3
484341,20:57897134:C>T,NM_207034.2:c.543-293C>T,\N,\N,3/4,Benign,\N,intron_variant,1.333,0.0166,1KG_AFR_AF,EDN3
484342,20:57897135:G>A,NM_207034.2:c.543-292G>A,\N,\N,3/4,Unknown significance,\N,intron_variant,1.589,0.0023,1KG_AFR_AF,EDN3
484343,20:57897157:G>A,NM_207034.2:c.543-270G>A,\N,\N,3/4,Unknown significance,\N,intron_variant,0.708,\N,\N,EDN3
484344,20:57897216:C>T,NM_207034.2:c.543-211C>T,\N,\N,3/4,Benign,\N,intron_variant,1.973,0.0098,1KG_AFR_AF,EDN3
484345,20:57897217:G>A,NM_207034.2:c.543-210G>A,\N,\N,3/4,Unknown significance,\N,intron_variant,0.897,\N,\N,EDN3
484346,20:57897219:T>C,NM_207034.2:c.543-208T>C,\N,\N,3/4,Unknown significance,\N,intron_variant,3.359,\N,\N,EDN3
484347,20:57897232:G>A,NM_207034.2:c.543-195G>A,\N,\N,3/4,Unknown significance,\N,intron_variant,3.145,0.0014,1KG_AMR_AF,EDN3
484348,20:57897270:C>T,NM_207034.2:c.543-157C>T,\N,\N,3/4,Unknown significance,\N,intron_variant,1.611,0.001,1KG_EAS_AF,EDN3
484349,20:57897274:T>C,NM_207034.2:c.543-153T>C,\N,\N,3/4,Unknown significance,\N,intron_variant,2.337,0.0015,1KG_AFR_AF,EDN3
484350,20:57897303:C>T,NM_207034.2:c.543-124C>T,\N,\N,3/4,Unknown significance,\N,intron_variant,2.245,0.002,1KG_SAS_AF,EDN3
484351,20:57897320:G>A,NM_207034.2:c.543-107G>A,\N,\N,3/4,Unknown significance,\N,intron_variant,3.234,0.0008,1KG_AFR_AF,EDN3
484352,20:57897345:A>C,NM_207034.2:c.543-82A>C,\N,\N,3/4,Benign,\N,intron_variant,8.313,0.0069,1KG_EAS_AF,EDN3
484353,20:57897367:C>T,NM_207034.2:c.543-60C>T,\N,\N,3/4,Unknown significance,\N,intron_variant,15.04,0.0015,1KG_AFR_AF,EDN3
484354,20:57897368:G>A,NM_207034.2:c.543-59G>A,\N,\N,3/4,Unknown significance,\N,intron_variant,14.54,0.0008,1KG_AFR_AF,EDN3
484355,20:57897375:C>T,NM_207034.2:c.543-52C>T,\N,\N,3/4,Unknown significance,\N,intron_variant,17.55,0.0008,1KG_AFR_AF,EDN3
484356,20:57897390:G>C,NM_207034.2:c.543-37G>C,\N,\N,3/4,Unknown significance,\N,intron_variant,12.87,0.000226963,EVS_AA_AF,EDN3
484357,20:57897391:C>A,NM_207034.2:c.543-36C>A,\N,\N,3/4,Unknown significance,\N,intron_variant,15.48,0.0000605767,EXAC_SAS_AF,EDN3
484358,20:57897393:G>A,NM_207034.2:c.543-34G>A,\N,\N,3/4,Unknown significance,\N,intron_variant,16.24,0.000453926,EVS_AA_AF,EDN3
484359,20:57897394:G>A,NM_207034.2:c.543-33G>A,\N,\N,3/4,Unknown significance,\N,intron_variant,13.83,0.000226963,EVS_AA_AF,EDN3
484360,20:57897394:G>T,NM_207034.2:c.543-33G>T,\N,\N,3/4,Unknown significance,\N,intron_variant,12.24,0.000259516,EXAC_AMR_AF,EDN3
484361,20:57897395:T>C,NM_207034.2:c.543-32T>C,\N,\N,3/4,Unknown significance,\N,intron_variant,13.06,0.0000299949,EXAC_NFE_AF,EDN3
484362,20:57897399:T>C,NM_207034.2:c.543-28T>C,\N,\N,3/4,Unknown significance,\N,intron_variant,12.67,0.000116279,EVS_EA_AF,EDN3
484363,20:57897414:T>G,NM_207034.2:c.543-13T>G,\N,\N,3/4,Unknown significance,\N,intron_variant,16.11,0.0008,1KG_AFR_AF,EDN3
484364,20:57897415:C>T,NM_207034.2:c.543-12C>T,\N,\N,3/4,Unknown significance,\N,intron_variant,13.93,0.000226963,EVS_AA_AF,EDN3
484365,20:57897423:A>T,NM_207034.2:c.543-4A>T,\N,\N,3/4,Unknown significance,\N,splice_region_variant&intron_variant,11.75,0.0000605694,EXAC_SAS_AF,EDN3
484366,20:57897424:C>G,NM_207034.2:c.543-3C>G,\N,\N,3/4,Unknown significance,\N,splice_region_variant&intron_variant,12.79,0.000226963,EVS_AA_AF,EDN3
484367,20:57897438:C>T,NM_207034.2:c.554C>T,NP_996917.1:p.Thr185Met,4/5,\N,Pathogenic,Deafness,missense_variant,23.3,0.000453926,EVS_AA_AF,EDN3
484368,20:57897439:G>A,NM_207034.2:c.555G>A,NP_996917.1:p.Thr185=,4/5,\N,Unknown significance,\N,synonymous_variant,11.89,0.0000961908,EXAC_AFR_AF,EDN3
484369,20:57897443:G>GA,NM_207034.2:c.565dup,NP_996917.1:p.Thr189AsnfsTer10,4/5,\N,Benign*,\N,frameshift_variant,24,0.005443,EXAC_FIN_AF,EDN3
484370,20:57897450:CAG>C,NM_207034.2:c.568_569del,NP_996917.1:p.Asp190GlnfsTer8,4/5,\N,Unknown significance,\N,frameshift_variant,29.9,0.00221729,EXAC_OTH_AF,EDN3
484371,20:57897455:AAAG>A,NM_207034.2:c.576_578del,NP_996917.1:p.Glu194del,4/5,\N,Unknown significance,\N,inframe_deletion,13.49,\N,\N,EDN3
484372,20:57897458:G>C,NM_207034.2:c.574G>C,NP_996917.1:p.Glu192Gln,4/5,\N,Unknown significance,\N,missense_variant,15.37,0.000115554,EXAC_EAS_AF,EDN3
484373,20:57897469:G>C,NM_207034.2:c.585G>C,NP_996917.1:p.Gly195=,4/5,\N,Unknown significance,\N,synonymous_variant,8.291,0.0000150051,EXAC_NFE_AF,EDN3
484374,20:57897472:G>A,NM_207034.2:c.588G>A,NP_996917.1:p.Lys196=,4/5,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,11.89,0.000192678,EXAC_AFR_AF,EDN3
484375,20:57897491:G>A,NM_207032.1:c.607G>A,NP_996915.1:p.Gly203Ser,4/5,\N,Likely benign,\N,missense_variant,9.468,0.00017304,EXAC_AMR_AF,EDN3
484376,20:57897494:C>G,NM_207032.1:c.610C>G,NP_996915.1:p.Leu204Val,4/5,\N,Likely benign,\N,missense_variant,9.883,0.000121212,EXAC_SAS_AF,EDN3
484377,20:57897494:C>T,NM_207032.1:c.610C>T,NP_996915.1:p.Leu204=,4/5,\N,Unknown significance,\N,synonymous_variant,10.5,0.0000150376,EXAC_NFE_AF,EDN3
484378,20:57897513:G>A,NM_207032.1:c.623+6G>A,\N,\N,4/4,Unknown significance,\N,splice_region_variant&intron_variant,10.3,0.000425791,EXAC_SAS_AF,EDN3
484379,20:57897518:G>A,NM_207034.2:c.588+46G>A,\N,\N,4/4,Unknown significance,\N,intron_variant,3.688,0.0000609013,EXAC_SAS_AF,EDN3
484380,20:57897520:C>T,NM_207034.2:c.588+48C>T,\N,\N,4/4,Unknown significance,\N,intron_variant,0.223,0.0022093,EVS_EA_AF,EDN3
484381,20:57897520:CGTGTCATTCCTTCGGGG>C,NM_207034.2:c.588+52_588+68del,\N,\N,4/4,Unknown significance,\N,intron_variant,2.949,0.000234962,EXAC_EAS_AF,EDN3
484382,20:57897521:G>A,NM_207034.2:c.588+49G>A,\N,\N,4/4,Unknown significance,\N,intron_variant,1.953,0.00152383,EXAC_SAS_AF,EDN3
484383,20:57897523:G>A,NM_207034.2:c.588+51G>A,\N,\N,4/4,Unknown significance,\N,intron_variant,1.323,0.0000883236,EXAC_AMR_AF,EDN3
484384,20:57897528:T>G,NM_207034.2:c.588+56T>G,\N,\N,4/4,Unknown significance,\N,intron_variant,5.161,0.0008,1KG_AFR_AF,EDN3
484385,20:57897533:C>T,NM_207034.2:c.588+61C>T,\N,\N,4/4,Unknown significance,\N,intron_variant,4.249,0.0000154369,EXAC_NFE_AF,EDN3
484386,20:57897534:G>A,NM_207034.2:c.588+62G>A,\N,\N,4/4,Unknown significance,\N,intron_variant,1.781,0.000153327,EXAC_FIN_AF,EDN3
484387,20:57897535:G>A,NM_207034.2:c.588+63G>A,\N,\N,4/4,Unknown significance,\N,intron_variant,3.925,0.000116279,EVS_EA_AF,EDN3
484388,20:57897538:G>A,NM_207034.2:c.588+66G>A,\N,\N,4/4,Unknown significance,\N,intron_variant,2.289,\N,\N,EDN3
484389,20:57897542:G>T,NM_207034.2:c.588+70G>T,\N,\N,4/4,Unknown significance,\N,intron_variant,1.489,0.000453926,EVS_AA_AF,EDN3
484390,20:57897548:G>T,NM_207034.2:c.588+76G>T,\N,\N,4/4,Unknown significance,\N,intron_variant,1.526,\N,\N,EDN3
484391,20:57897550:T>A,NM_207034.2:c.588+78T>A,\N,\N,4/4,Unknown significance,\N,intron_variant,4.138,0.000126711,EXAC_EAS_AF,EDN3
484392,20:57897552:T>G,NM_207034.2:c.588+80T>G,\N,\N,4/4,Unknown significance,\N,intron_variant,1.09,\N,\N,EDN3
484393,20:57897553:T>G,NM_207034.2:c.588+81T>G,\N,\N,4/4,Unknown significance,\N,intron_variant,2.403,\N,\N,EDN3
484394,20:57897570:T>C,NM_207034.2:c.588+98T>C,\N,\N,4/4,Unknown significance,\N,intron_variant,3.355,0.001,1KG_SAS_AF,EDN3
484395,20:57897581:A>G,NM_207034.2:c.588+109A>G,\N,\N,4/4,Unknown significance,\N,intron_variant,4.91,\N,\N,EDN3
484396,20:57897585:G>A,NM_207034.2:c.588+113G>A,\N,\N,4/4,Unknown significance,\N,intron_variant,6.3,\N,\N,EDN3
484397,20:57897603:G>A,NM_207034.2:c.588+131G>A,\N,\N,4/4,Benign,\N,intron_variant,5.704,0.0151,1KG_AFR_AF,EDN3
484398,20:57897610:G>A,NM_207034.2:c.588+138G>A,\N,\N,4/4,Unknown significance,\N,intron_variant,0.764,0.003,1KG_AFR_AF,EDN3
484399,20:57897622:A>C,NM_207034.2:c.588+150A>C,\N,\N,4/4,Unknown significance,\N,intron_variant,0.541,\N,\N,EDN3
484400,20:57897627:T>C,NM_207034.2:c.588+155T>C,\N,\N,4/4,Unknown significance,\N,intron_variant,4.364,0.0014,1KG_AMR_AF,EDN3
484401,20:57897637:G>T,NM_207034.2:c.588+165G>T,\N,\N,4/4,Unknown significance,\N,intron_variant,0.168,0.001,1KG_EAS_AF,EDN3
484402,20:57897638:G>T,NM_207034.2:c.588+166G>T,\N,\N,4/4,Unknown significance,\N,intron_variant,1.848,0.001,1KG_EAS_AF,EDN3
484403,20:57897652:G>T,NM_207034.2:c.588+180G>T,\N,\N,4/4,Unknown significance,\N,intron_variant,1.256,\N,\N,EDN3
484404,20:57897692:C>T,NM_207034.2:c.588+220C>T,\N,\N,4/4,Unknown significance,\N,intron_variant,3.549,\N,\N,EDN3
484405,20:57897693:G>A,NM_207034.2:c.588+221G>A,\N,\N,4/4,Unknown significance,\N,intron_variant,1.285,0.0008,1KG_AFR_AF,EDN3
484406,20:57897702:C>T,NM_207034.2:c.588+230C>T,\N,\N,4/4,Unknown significance,\N,intron_variant,3.995,0.001,1KG_EAS_AF,EDN3
484407,20:57897789:A>G,NM_207034.2:c.588+317A>G,\N,\N,4/4,Unknown significance,\N,intron_variant,4.801,\N,\N,EDN3
484408,20:57897807:C>T,NM_207034.2:c.588+335C>T,\N,\N,4/4,Unknown significance,\N,intron_variant,2.593,0.0008,1KG_AFR_AF,EDN3
484409,20:57897808:G>T,NM_207034.2:c.588+336G>T,\N,\N,4/4,Unknown significance,\N,intron_variant,0.037,\N,\N,EDN3
484410,20:57897856:C>T,NM_207034.2:c.588+384C>T,\N,\N,4/4,Unknown significance,\N,intron_variant,6.199,\N,\N,EDN3
484411,20:57897885:C>T,NM_207034.2:c.588+413C>T,\N,\N,4/4,Benign,\N,intron_variant,2.75,0.006,1KG_EAS_AF,EDN3
484412,20:57897886:G>A,NM_207034.2:c.588+414G>A,\N,\N,4/4,Unknown significance,\N,intron_variant,1.591,0.001,1KG_EAS_AF,EDN3
484413,20:57897905:C>A,NM_207034.2:c.588+433C>A,\N,\N,4/4,Unknown significance,\N,intron_variant,5.509,\N,\N,EDN3
484414,20:57897937:T>A,NM_207034.2:c.588+465T>A,\N,\N,4/4,Unknown significance,\N,intron_variant,6.589,\N,\N,EDN3
484415,20:57897943:C>T,NM_207034.2:c.588+471C>T,\N,\N,4/4,Unknown significance,\N,intron_variant,2.483,0.001,1KG_EAS_AF,EDN3
484416,20:57897985:T>A,NM_207034.2:c.588+513T>A,\N,\N,4/4,Unknown significance,\N,intron_variant,10.99,\N,\N,EDN3
484417,20:57897986:A>AT,NM_207034.2:c.588+522dup,\N,\N,4/4,Benign,\N,intron_variant,10.45,0.1909,1KG_EUR_AF,EDN3
484418,20:57897986:A>T,NM_207034.2:c.588+514A>T,\N,\N,4/4,Unknown significance,\N,intron_variant,9.277,\N,\N,EDN3
484419,20:57898026:T>C,NM_207034.2:c.588+554T>C,\N,\N,4/4,Benign,\N,intron_variant,4.653,0.0061,1KG_AFR_AF,EDN3
484420,20:57898039:C>T,NM_207034.2:c.588+567C>T,\N,\N,4/4,Unknown significance,\N,intron_variant,0.566,\N,\N,EDN3
484421,20:57898055:A>G,NM_207034.2:c.588+583A>G,\N,\N,4/4,Unknown significance,\N,intron_variant,5.225,0.001,1KG_EAS_AF,EDN3
484422,20:57898067:A>G,NM_207034.2:c.588+595A>G,\N,\N,4/4,Unknown significance,\N,intron_variant,13.18,\N,\N,EDN3
484423,20:57898067:A>T,NM_207034.2:c.588+595A>T,\N,\N,4/4,Unknown significance,\N,intron_variant,12.7,0.0008,1KG_AFR_AF,EDN3
484424,20:57898092:C>G,NM_207034.2:c.588+620C>G,\N,\N,4/4,Unknown significance,\N,intron_variant,11.34,0.001,1KG_EAS_AF,EDN3
484425,20:57898095:C>T,NM_207034.2:c.588+623C>T,\N,\N,4/4,Unknown significance,\N,intron_variant,1.783,0.004,1KG_EAS_AF,EDN3
484426,20:57898120:A>C,NM_207034.2:c.588+648A>C,\N,\N,4/4,Unknown significance,\N,intron_variant,9.255,\N,\N,EDN3
484427,20:57898175:C>T,NM_207034.2:c.588+703C>T,\N,\N,4/4,Unknown significance,\N,intron_variant,15.92,\N,\N,EDN3
484428,20:57898178:G>C,NM_207034.2:c.588+706G>C,\N,\N,4/4,Unknown significance,\N,intron_variant,12.98,\N,\N,EDN3
484429,20:57898190:C>A,NM_207034.2:c.588+718C>A,\N,\N,4/4,Unknown significance,\N,intron_variant,9.546,\N,\N,EDN3
484430,20:57898195:C>A,NM_207034.2:c.588+723C>A,\N,\N,4/4,Benign,\N,intron_variant,7.042,0.0129,1KG_EAS_AF,EDN3
484431,20:57898267:A>T,NM_207034.2:c.588+795A>T,\N,\N,4/4,Benign,\N,intron_variant,11.48,0.618,1KG_AFR_AF,EDN3
484432,20:57898286:G>A,NM_207034.2:c.588+814G>A,\N,\N,4/4,Unknown significance,\N,intron_variant,4.255,0.004,1KG_EAS_AF,EDN3
484433,20:57898300:C>T,NM_207034.2:c.588+828C>T,\N,\N,4/4,Unknown significance,\N,intron_variant,5.203,0.0023,1KG_AFR_AF,EDN3
484434,20:57898321:C>G,NM_207034.2:c.588+849C>G,\N,\N,4/4,Unknown significance,\N,intron_variant,8.033,\N,\N,EDN3
484435,20:57898322:G>A,NM_207034.2:c.588+850G>A,\N,\N,4/4,Unknown significance,\N,intron_variant,5.844,0.003,1KG_EAS_AF,EDN3
484436,20:57898329:C>T,NM_207034.2:c.588+857C>T,\N,\N,4/4,Unknown significance,\N,intron_variant,16.2,\N,\N,EDN3
484437,20:57898418:G>A,NM_207034.2:c.588+946G>A,\N,\N,4/4,Unknown significance,\N,intron_variant,13.97,0.002,1KG_EAS_AF,EDN3
484438,20:57898423:C>T,NM_207034.2:c.588+951C>T,\N,\N,4/4,Unknown significance,\N,intron_variant,16.94,0.001,1KG_EAS_AF,EDN3
484439,20:57898424:G>A,NM_207034.2:c.588+952G>A,\N,\N,4/4,Unknown significance,\N,intron_variant,16.64,\N,\N,EDN3
484440,20:57898427:A>T,NM_207034.2:c.588+955A>T,\N,\N,4/4,Unknown significance,\N,intron_variant,16.14,0.001,1KG_EUR_AF,EDN3
484441,20:57898457:A>G,NM_207034.2:c.589-929A>G,\N,\N,4/4,Unknown significance,\N,intron_variant,10.81,0.0008,1KG_AFR_AF,EDN3
484442,20:57898461:A>C,NM_207034.2:c.589-925A>C,\N,\N,4/4,Unknown significance,\N,intron_variant,7.006,0.001,1KG_EAS_AF,EDN3
484443,20:57898468:C>T,NM_207034.2:c.589-918C>T,\N,\N,4/4,Benign,\N,intron_variant,3.963,0.0238,1KG_EAS_AF,EDN3
484444,20:57898480:C>T,NM_207034.2:c.589-906C>T,\N,\N,4/4,Unknown significance,\N,intron_variant,1.926,\N,\N,EDN3
484445,20:57898500:G>A,NM_207034.2:c.589-886G>A,\N,\N,4/4,Unknown significance,\N,intron_variant,1.59,0.0015,1KG_AFR_AF,EDN3
484446,20:57898511:C>G,NM_207034.2:c.589-875C>G,\N,\N,4/4,Unknown significance,\N,intron_variant,0.238,\N,\N,EDN3
484447,20:57898511:C>T,NM_207034.2:c.589-875C>T,\N,\N,4/4,Benign,\N,intron_variant,0.603,0.0129,1KG_AFR_AF,EDN3
484448,20:57898512:G>A,NM_207034.2:c.589-874G>A,\N,\N,4/4,Unknown significance,\N,intron_variant,2.467,0.001,1KG_EUR_AF,EDN3
484449,20:57898530:G>A,NM_207034.2:c.589-856G>A,\N,\N,4/4,Unknown significance,\N,intron_variant,4.425,0.002,1KG_EUR_AF,EDN3
484450,20:57898577:G>A,NM_207034.2:c.589-809G>A,\N,\N,4/4,Benign,\N,intron_variant,5.375,0.0616,1KG_EUR_AF,EDN3
484451,20:57898589:G>T,NM_207034.2:c.589-797G>T,\N,\N,4/4,Unknown significance,\N,intron_variant,2.587,0.001,1KG_EAS_AF,EDN3
484452,20:57898600:A>C,NM_207034.2:c.589-786A>C,\N,\N,4/4,Unknown significance,\N,intron_variant,3.534,\N,\N,EDN3
484453,20:57898650:C>T,NM_207034.2:c.589-736C>T,\N,\N,4/4,Unknown significance,\N,intron_variant,0.699,0.0023,1KG_AFR_AF,EDN3
484454,20:57898665:G>A,NM_207034.2:c.589-721G>A,\N,\N,4/4,Benign,\N,intron_variant,1.956,0.1909,1KG_EUR_AF,EDN3
484455,20:57898666:C>T,NM_207034.2:c.589-720C>T,\N,\N,4/4,Unknown significance,\N,intron_variant,2.174,\N,\N,EDN3
484456,20:57898681:G>C,NM_207034.2:c.589-705G>C,\N,\N,4/4,Unknown significance,\N,intron_variant,0.689,\N,\N,EDN3
484457,20:57898693:G>A,NM_207034.2:c.589-693G>A,\N,\N,4/4,Unknown significance,\N,intron_variant,2.721,\N,\N,EDN3
484458,20:57898695:T>G,NM_207034.2:c.589-691T>G,\N,\N,4/4,Unknown significance,\N,intron_variant,2.845,0.003,1KG_EAS_AF,EDN3
484459,20:57898698:C>T,NM_207034.2:c.589-688C>T,\N,\N,4/4,Unknown significance,\N,intron_variant,0.635,0.0014,1KG_AMR_AF,EDN3
484460,20:57898721:G>C,NM_207034.2:c.589-665G>C,\N,\N,4/4,Unknown significance,\N,intron_variant,0.866,\N,\N,EDN3
484461,20:57898730:A>G,NM_207034.2:c.589-656A>G,\N,\N,4/4,Benign,\N,intron_variant,5.903,0.0121,1KG_AFR_AF,EDN3
484462,20:57898746:G>T,NM_207034.2:c.589-640G>T,\N,\N,4/4,Unknown significance,\N,intron_variant,0.833,0.0015,1KG_AFR_AF,EDN3
484463,20:57898754:G>A,NM_207034.2:c.589-632G>A,\N,\N,4/4,Unknown significance,\N,intron_variant,7.421,\N,\N,EDN3
484464,20:57898773:T>C,NM_207034.2:c.589-613T>C,\N,\N,4/4,Unknown significance,\N,intron_variant,2.233,0.0008,1KG_AFR_AF,EDN3
484465,20:57898783:G>C,NM_207034.2:c.589-603G>C,\N,\N,4/4,Unknown significance,\N,intron_variant,0.905,\N,\N,EDN3
484466,20:57898789:C>T,NM_207034.2:c.589-597C>T,\N,\N,4/4,Unknown significance,\N,intron_variant,3.276,\N,\N,EDN3
484467,20:57898796:T>C,NM_207034.2:c.589-590T>C,\N,\N,4/4,Unknown significance,\N,intron_variant,2.31,0.0014,1KG_AMR_AF,EDN3
484468,20:57898803:G>A,NM_207034.2:c.589-583G>A,\N,\N,4/4,Unknown significance,\N,intron_variant,9.699,\N,\N,EDN3
484469,20:57898816:C>T,NM_207034.2:c.589-570C>T,\N,\N,4/4,Unknown significance,\N,intron_variant,3.507,0.0008,1KG_AFR_AF,EDN3
484470,20:57898825:C>T,NM_207034.2:c.589-561C>T,\N,\N,4/4,Unknown significance,\N,intron_variant,1.555,\N,\N,EDN3
484471,20:57898844:T>C,NM_207034.2:c.589-542T>C,\N,\N,4/4,Unknown significance,\N,intron_variant,1.357,0.003,1KG_EUR_AF,EDN3
484472,20:57898861:G>A,NM_207034.2:c.589-525G>A,\N,\N,4/4,Unknown significance,\N,intron_variant,2.783,\N,\N,EDN3
484473,20:57898957:G>A,NM_207034.2:c.589-429G>A,\N,\N,4/4,Unknown significance,\N,intron_variant,3.62,\N,\N,EDN3
484474,20:57898968:G>A,NM_207034.2:c.589-418G>A,\N,\N,4/4,Unknown significance,\N,intron_variant,4.267,\N,\N,EDN3
484475,20:57898970:C>G,NM_207034.2:c.589-416C>G,\N,\N,4/4,Unknown significance,\N,intron_variant,0.624,0.001,1KG_EUR_AF|1KG_SAS_AF,EDN3
484476,20:57899002:CT>C,NM_207034.2:c.589-381del,\N,\N,4/4,Unknown significance,\N,intron_variant,\N,\N,\N,EDN3
484477,20:57899008:T>C,NM_207034.2:c.589-378T>C,\N,\N,4/4,Benign,\N,intron_variant,2.411,0.005,1KG_EAS_AF,EDN3
484478,20:57899014:A>C,NM_207034.2:c.589-372A>C,\N,\N,4/4,Unknown significance,\N,intron_variant,1.011,0.0023,1KG_AFR_AF,EDN3
484479,20:57899020:A>G,NM_207034.2:c.589-366A>G,\N,\N,4/4,Unknown significance,\N,intron_variant,0.432,0.0008,1KG_AFR_AF,EDN3
484480,20:57899025:C>T,NM_207034.2:c.589-361C>T,\N,\N,4/4,Unknown significance,\N,intron_variant,2.058,\N,\N,EDN3
484481,20:57899033:G>A,NM_207034.2:c.589-353G>A,\N,\N,4/4,Unknown significance,\N,intron_variant,6.107,0.0008,1KG_AFR_AF,EDN3
484482,20:57899042:C>A,NM_207034.2:c.589-344C>A,\N,\N,4/4,Unknown significance,\N,intron_variant,6.898,0.0008,1KG_AFR_AF,EDN3
484483,20:57899046:C>T,NM_207034.2:c.589-340C>T,\N,\N,4/4,Benign,\N,intron_variant,6.326,0.0143,1KG_SAS_AF,EDN3
484484,20:57899122:G>A,NM_207034.2:c.589-264G>A,\N,\N,4/4,Unknown significance,\N,intron_variant,4.918,\N,\N,EDN3
484485,20:57899123:G>A,NM_207034.2:c.589-263G>A,\N,\N,4/4,Benign,\N,intron_variant,1.742,0.4781,1KG_AFR_AF,EDN3
484486,20:57899184:T>A,NM_207034.2:c.589-202T>A,\N,\N,4/4,Benign,\N,intron_variant,5.591,0.0139,1KG_EAS_AF,EDN3
484487,20:57899193:A>G,NM_207034.2:c.589-193A>G,\N,\N,4/4,Unknown significance,\N,intron_variant,5.599,0.0045,1KG_AFR_AF,EDN3
484488,20:57899217:C>T,NM_207034.2:c.589-169C>T,\N,\N,4/4,Unknown significance,\N,intron_variant,2.989,0.0015,1KG_AFR_AF,EDN3
484489,20:57899218:G>A,NM_207034.2:c.589-168G>A,\N,\N,4/4,Unknown significance,\N,intron_variant,0.282,0.002,1KG_EUR_AF,EDN3
484490,20:57899245:G>A,NM_207034.2:c.589-141G>A,\N,\N,4/4,Unknown significance,\N,intron_variant,4.467,\N,\N,EDN3
484491,20:57899296:G>A,NM_207034.2:c.589-90G>A,\N,\N,4/4,Unknown significance,\N,intron_variant,1.326,0.0014,1KG_AMR_AF,EDN3
484492,20:57899299:C>T,NM_207034.2:c.589-87C>T,\N,\N,4/4,Unknown significance,\N,intron_variant,1.882,\N,\N,EDN3
484493,20:57899302:T>C,NM_207034.2:c.589-84T>C,\N,\N,4/4,Unknown significance,\N,intron_variant,0.684,0.0014,1KG_AMR_AF,EDN3
484494,20:57899310:C>T,NM_207034.2:c.589-76C>T,\N,\N,4/4,Benign,\N,intron_variant,2.341,0.0082,1KG_SAS_AF,EDN3
484495,20:57899332:A>G,NM_207034.2:c.589-54A>G,\N,\N,4/4,Unknown significance,\N,intron_variant,0.874,\N,\N,EDN3
484496,20:57899340:A>G,NM_207034.2:c.589-46A>G,\N,\N,4/4,Unknown significance,\N,intron_variant,0.843,0.0000152022,EXAC_NFE_AF,EDN3
484497,20:57899342:C>T,NM_207034.2:c.589-44C>T,\N,\N,4/4,Unknown significance,\N,intron_variant,3.388,0.0008,1KG_AFR_AF,EDN3
484498,20:57899344:T>C,NM_207034.2:c.589-42T>C,\N,\N,4/4,Unknown significance,\N,intron_variant,2.678,0.000116279,EVS_EA_AF,EDN3
484499,20:57899346:C>A,NM_207034.2:c.589-40C>A,\N,\N,4/4,Unknown significance,\N,intron_variant,3.595,0.0000151906,EXAC_NFE_AF,EDN3
484500,20:57899346:C>T,NM_207034.2:c.589-40C>T,\N,\N,4/4,Benign,\N,intron_variant,3.277,0.0333,1KG_AFR_AF,EDN3
484501,20:57899349:T>C,NM_207034.2:c.589-37T>C,\N,\N,4/4,Unknown significance,\N,intron_variant,0.991,0.0000870625,EXAC_AMR_AF,EDN3
484502,20:57899351:C>CT,NM_207034.2:c.589-26dup,\N,\N,4/4,Benign,\N,intron_variant,2.746,0.0351591,EXAC_EAS_AF,EDN3
484503,20:57899351:CT>C,NM_207034.2:c.589-26del,\N,\N,4/4,Unknown significance,\N,intron_variant,4.201,0.000480874,EXAC_NFE_AF,EDN3
484504,20:57899353:T>C,NM_207034.2:c.589-33T>C,\N,\N,4/4,Unknown significance,\N,intron_variant,2.277,0.001,1KG_SAS_AF,EDN3
484505,20:57899355:T>C,NM_207034.2:c.589-31T>C,\N,\N,4/4,Unknown significance,\N,intron_variant,0.361,0.0000870171,EXAC_AMR_AF,EDN3
484506,20:57899366:G>T,NM_207034.2:c.589-20G>T,\N,\N,4/4,Unknown significance,\N,intron_variant,0.571,0.003,1KG_EAS_AF,EDN3
484507,20:57899367:C>G,NM_207034.2:c.589-19C>G,\N,\N,4/4,Unknown significance,\N,intron_variant,1.351,0.0000151249,EXAC_NFE_AF,EDN3
484508,20:57899367:C>T,NM_207034.2:c.589-19C>T,\N,\N,4/4,Unknown significance,\N,intron_variant,2.724,0.003,1KG_EAS_AF,EDN3
484509,20:57899368:C>A,NM_207034.2:c.589-18C>A,\N,\N,4/4,Unknown significance,\N,intron_variant,3.352,0.0000302316,EXAC_NFE_AF,EDN3
484510,20:57899369:C>T,NM_207034.2:c.589-17C>T,\N,\N,4/4,Unknown significance,\N,intron_variant,2.683,0.000116279,EVS_EA_AF,EDN3
484511,20:57899376:C>T,NM_001302455.1:c.589-6C>T,\N,\N,4/4,Unknown significance,\N,splice_region_variant&intron_variant,2.137,0.000232558,EVS_EA_AF,EDN3
484512,20:57899382:A>G,NM_001302455.1:c.589A>G,NP_001289384.1:p.Thr197Ala,5/5,\N,Unknown significance,\N,missense_variant&splice_region_variant,0.287,\N,\N,EDN3
484513,20:57899387:T>G,NM_207034.2:c.590T>G,NP_996917.1:p.Val197Gly,5/5,\N,Likely benign,\N,missense_variant&splice_region_variant,0.002,0.0000301259,EXAC_NFE_AF,EDN3
484514,20:57899392:G>A,NM_207034.2:c.595G>A,NP_996917.1:p.Val199Ile,5/5,\N,Likely benign,\N,missense_variant,5.334,0.000116036,EXAC_EAS_AF,EDN3
484515,20:57899396:A>T,NM_001302456.1:c.553A>T,NP_001289385.1:p.Arg185Trp,4/4,\N,Unknown significance,\N,missense_variant,22.2,0.000226963,EVS_AA_AF,EDN3
484516,20:57899397:G>A,NM_001302456.1:c.554G>A,NP_001289385.1:p.Arg185Lys,4/4,\N,Likely benign,\N,missense_variant,8.897,0.0000972573,EXAC_AFR_AF,EDN3
484517,20:57899400:C>T,NM_001302456.1:c.557C>T,NP_001289385.1:p.Thr186Ile,4/4,\N,Likely benign,\N,missense_variant,9.413,0.0000300906,EXAC_NFE_AF,EDN3
484518,20:57899423:ACCT>A,NM_207034.2:c.629_631del,NP_996917.1:p.Leu210del,5/5,\N,Unknown significance,\N,inframe_deletion,5.489,0.0000606061,EXAC_SAS_AF,EDN3
484519,20:57899427:C>A,NM_207034.2:c.630C>A,NP_996917.1:p.Leu210=,5/5,\N,Unknown significance,\N,synonymous_variant,9.016,0.0000150295,EXAC_NFE_AF,EDN3
484520,20:57899448:C>A,NM_207034.2:c.651C>A,NP_996917.1:p.Pro217=,5/5,\N,Unknown significance,\N,synonymous_variant,14.35,0.0000150471,EXAC_NFE_AF,EDN3
484521,20:57899448:C>T,NM_207034.2:c.651C>T,NP_996917.1:p.Pro217=,5/5,\N,Unknown significance,\N,synonymous_variant,11.58,0.00110132,EXAC_OTH_AF,EDN3
484522,20:57899449:G>A,NM_207034.2:c.652G>A,NP_996917.1:p.Gly218Ser,5/5,\N,Likely benign,\N,missense_variant,0.001,0.0000150471,EXAC_NFE_AF,EDN3
484523,20:57899449:G>C,NM_207034.2:c.652G>C,NP_996917.1:p.Gly218Arg,5/5,\N,Likely benign,\N,missense_variant,0.032,0.0000150471,EXAC_NFE_AF,EDN3
484524,20:57899452:A>C,NM_207034.2:c.655A>C,NP_996917.1:p.Ser219Arg,5/5,\N,Likely benign,\N,missense_variant,11.88,0.0020017,EXAC_SAS_AF,EDN3
484525,20:57899460:C>T,NM_207034.2:c.663C>T,NP_996917.1:p.Leu221=,5/5,\N,Unknown significance,\N,synonymous_variant,11.48,0.000453926,EVS_AA_AF,EDN3
484526,20:57899461:G>A,NM_207034.2:c.664G>A,NP_996917.1:p.Ala222Thr,5/5,\N,Likely benign,\N,missense_variant,8.202,0.0014,1KG_AMR_AF,EDN3
484527,20:57899466:C>T,NM_207034.2:c.669C>T,NP_996917.1:p.Leu223=,5/5,\N,Unknown significance,\N,synonymous_variant,9.429,0.001,1KG_EUR_AF,EDN3
484528,20:57899467:G>A,NM_207034.2:c.670G>A,NP_996917.1:p.Ala224Thr,5/5,\N,Benign*,\N,missense_variant,16.12,0.0053,1KG_AFR_AF,EDN3
484529,20:57899468:C>T,NM_207034.2:c.671C>T,NP_996917.1:p.Ala224Val,5/5,\N,Likely benign,\N,missense_variant,16.8,0.0000150807,EXAC_NFE_AF,EDN3
484530,20:57899470:C>G,NM_207034.2:c.673C>G,NP_996917.1:p.Pro225Ala,5/5,\N,Likely benign,\N,missense_variant,0.011,0.0000150802,EXAC_NFE_AF,EDN3
484531,20:57899472:A>G,NM_207034.2:c.675A>G,NP_996917.1:p.Pro225=,5/5,\N,Unknown significance,\N,synonymous_variant,0.673,0.000116117,EXAC_EAS_AF,EDN3
484532,20:57899474:C>T,NM_207034.2:c.677C>T,NP_996917.1:p.Ser226Phe,5/5,\N,Likely benign,\N,missense_variant,15.13,\N,\N,EDN3
484533,20:57899482:C>T,NM_207034.2:c.685C>T,NP_996917.1:p.Pro229Ser,5/5,\N,Likely benign,\N,missense_variant,15.37,0.000434028,EXAC_AMR_AF,EDN3
484534,20:57899484:C>T,NM_207034.2:c.687C>T,NP_996917.1:p.Pro229=,5/5,\N,Unknown significance,\N,synonymous_variant,9.32,0.000116144,EXAC_EAS_AF,EDN3
484535,20:57899485:C>A,NM_207034.2:c.688C>A,NP_996917.1:p.Arg230Ser,5/5,\N,Likely benign,\N,missense_variant,17.13,0.000182216,EXAC_SAS_AF,EDN3
484536,20:57899485:C>T,NM_207034.2:c.688C>T,NP_996917.1:p.Arg230Cys,5/5,\N,Likely benign,\N,missense_variant,21.9,0.000116279,EVS_EA_AF,EDN3
484537,20:57899486:G>A,NM_207034.2:c.689G>A,NP_996917.1:p.Arg230His,5/5,\N,Likely benign,\N,missense_variant,18.7,0.002,1KG_EUR_AF,EDN3
484538,20:57899486:G>C,NM_207034.2:c.689G>C,NP_996917.1:p.Arg230Pro,5/5,\N,Likely benign,\N,missense_variant,17.57,0.0000453282,EXAC_NFE_AF,EDN3
484539,20:57899494:T>C,NM_207034.2:c.697T>C,NP_996917.1:p.Phe233Leu,5/5,\N,Likely benign,\N,missense_variant,12.15,0.001,1KG_SAS_AF,EDN3
484540,20:57899496:T>C,NM_207034.2:c.699T>C,NP_996917.1:p.Phe233=,5/5,\N,Unknown significance,\N,synonymous_variant,0.074,0.0000868508,EXAC_AMR_AF,EDN3
484541,20:57899498:AG>A,NM_207034.2:c.703del,NP_996917.1:p.Glu235LysfsTer35,5/5,\N,Unknown significance,\N,frameshift_variant,24.3,\N,\N,EDN3
484542,20:57899500:G>A,NM_207034.2:c.703G>A,NP_996917.1:p.Glu235Lys,5/5,\N,Likely benign,\N,missense_variant,14.81,\N,\N,EDN3
484543,20:57899504:G>C,NM_207034.2:c.707G>C,NP_996917.1:p.Gly236Ala,5/5,\N,Likely benign,\N,missense_variant,21.6,0.0000454146,EXAC_NFE_AF,EDN3
484544,20:57899507:C>T,NM_207034.2:c.710C>T,NP_996917.1:p.Ala237Val,5/5,\N,Unknown significance,\N,missense_variant,22.6,0.0000605638,EXAC_NFE_AF,EDN3
484545,20:57899508:C>A,NM_207034.2:c.711C>A,NP_996917.1:p.Ala237=,5/5,\N,Unknown significance,\N,synonymous_variant,13.53,0.00110865,EXAC_OTH_AF,EDN3
484546,20:57899514:G>A,NM_207034.2:c.717G>A,NP_996917.1:p.Ter239=,5/5,\N,Unknown significance,\N,stop_retained_variant,7.949,0.000226963,EVS_AA_AF,EDN3
484547,20:57899515:G>A,NM_207034.2:c.*1G>A,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,8.105,0.0000869112,EXAC_AMR_AF,EDN3
484548,20:57899515:G>T,NM_207034.2:c.*1G>T,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,6.531,0.0014,1KG_AMR_AF,EDN3
484549,20:57899524:C>T,NM_207034.2:c.*10C>T,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,6.257,0.0000151906,EXAC_NFE_AF,EDN3
484550,20:57899528:C>A,NM_000114.2:c.*14C>A,\N,5/6,\N,Unknown significance,\N,splice_region_variant&3_prime_UTR_variant,0.402,0.0000151976,EXAC_NFE_AF,EDN3
484551,20:57899532:A>G,NM_000114.2:c.*15+3A>G,\N,\N,5/5,Unknown significance,\N,splice_region_variant&intron_variant,4.908,0.000116279,EVS_EA_AF,EDN3
484552,20:57899540:C>A,NM_207034.2:c.*26C>A,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,6.434,0.000182615,EXAC_SAS_AF,EDN3
484553,20:57899542:C>T,NM_207034.2:c.*28C>T,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,0.386,0.00385837,EVS_AA_AF,EDN3
484554,20:57899543:G>A,NM_207034.2:c.*29G>A,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,4.919,0.00068089,EVS_AA_AF,EDN3
484555,20:57899548:GC>G,NM_207034.2:c.*35del,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,2.554,0.0000152499,EXAC_NFE_AF,EDN3
484556,20:57899550:T>C,NM_207034.2:c.*36T>C,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,2.908,0.00010099,EXAC_AFR_AF,EDN3
484557,20:57899557:A>T,NM_207034.2:c.*43A>T,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,0.572,0.001,1KG_SAS_AF,EDN3
484558,20:57899558:T>C,NM_207034.2:c.*44T>C,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,2.408,0.00204267,EVS_AA_AF,EDN3
484559,20:57899561:C>G,NM_207034.2:c.*47C>G,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,4.221,0.000116604,EXAC_EAS_AF,EDN3
484560,20:57899572:T>A,NM_207034.2:c.*58T>A,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,5.846,\N,\N,EDN3
484561,20:57899579:T>G,NM_207034.2:c.*65T>G,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,4.511,0.001,1KG_EUR_AF,EDN3
484562,20:57899592:T>G,NM_207034.2:c.*78T>G,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,0.429,0.001,1KG_SAS_AF,EDN3
484563,20:57899595:A>C,NM_207034.2:c.*81A>C,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,5.131,0.001,1KG_EAS_AF,EDN3
484564,20:57899607:T>A,NM_207034.2:c.*93T>A,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,15.12,0.0008,1KG_AFR_AF,EDN3
484565,20:57899653:AC>A,NM_207034.2:c.*149del,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,9.429,\N,\N,EDN3
484566,20:57899653:ACC>A,NM_207034.2:c.*148_*149del,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,10.96,\N,\N,EDN3
484567,20:57899656:C>G,NM_207034.2:c.*142C>G,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,8.011,\N,\N,EDN3
484568,20:57899657:C>A,NM_207034.2:c.*143C>A,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,7.223,0.002,1KG_EUR_AF,EDN3
484569,20:57899657:C>G,NM_207034.2:c.*143C>G,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,6.059,0.001,1KG_EAS_AF|1KG_EUR_AF|1KG_SAS_AF,EDN3
484570,20:57899657:C>T,NM_207034.2:c.*143C>T,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,7.434,\N,\N,EDN3
484571,20:57899659:CC>T,NM_207034.2:c.*145_*146delinsT,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,\N,\N,\N,EDN3
484572,20:57899660:C>A,NM_207034.2:c.*146C>A,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,1.061,\N,\N,EDN3
484573,20:57899660:C>G,NM_207034.2:c.*146C>G,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,0.532,\N,\N,EDN3
484574,20:57899660:C>T,NM_207034.2:c.*146C>T,\N,5/5,\N,Benign,\N,3_prime_UTR_variant,1.207,0.0367,1KG_EAS_AF,EDN3
484575,20:57899661:C>A,NM_207034.2:c.*147C>A,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,2.387,0.0041,1KG_SAS_AF,EDN3
484576,20:57899662:C>G,NM_207034.2:c.*148C>G,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,1.334,0.002,1KG_SAS_AF,EDN3
484577,20:57899663:C>A,NM_207034.2:c.*149C>A,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,1.949,0.002,1KG_SAS_AF,EDN3
484578,20:57899666:G>A,NM_207034.2:c.*152G>A,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,3.885,\N,\N,EDN3
484579,20:57899666:G>C,NM_207034.2:c.*152G>C,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,0.988,\N,\N,EDN3
484580,20:57899666:G>T,NM_207034.2:c.*152G>T,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,1.803,\N,\N,EDN3
484581,20:57899679:A>G,NM_207034.2:c.*165A>G,\N,5/5,\N,Benign,\N,3_prime_UTR_variant,4.933,0.0204,1KG_AFR_AF,EDN3
484582,20:57899685:G>A,NM_207034.2:c.*171G>A,\N,5/5,\N,Benign,\N,3_prime_UTR_variant,1.831,0.0367,1KG_EAS_AF,EDN3
484583,20:57899691:C>A,NM_207034.2:c.*177C>A,\N,5/5,\N,Benign,\N,3_prime_UTR_variant,4.504,0.0089,1KG_EAS_AF,EDN3
484584,20:57899693:C>G,NM_207034.2:c.*179C>G,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,4.774,0.001,1KG_EAS_AF,EDN3
484585,20:57899719:C>A,NM_207034.2:c.*205C>A,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,12.57,0.0014,1KG_AMR_AF,EDN3
484586,20:57899755:G>A,NM_207034.2:c.*241G>A,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,4.036,\N,\N,EDN3
484587,20:57899832:T>C,NM_207034.2:c.*318T>C,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,11.94,0.001,1KG_EAS_AF,EDN3
484588,20:57899834:G>T,NM_207034.2:c.*320G>T,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,10.84,\N,\N,EDN3
484589,20:57899869:A>G,NM_207034.2:c.*355A>G,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,12.81,0.003,1KG_EAS_AF,EDN3
484590,20:57899959:T>C,NM_207034.2:c.*445T>C,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,0.369,\N,\N,EDN3
484591,20:57899964:T>C,NM_207034.2:c.*450T>C,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,0.514,0.0031,1KG_SAS_AF,EDN3
484592,20:57899981:C>G,NM_207034.2:c.*467C>G,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,1.802,\N,\N,EDN3
484593,20:57899981:C>T,NM_207034.2:c.*467C>T,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,3.335,0.001,1KG_EUR_AF,EDN3
484594,20:57899989:C>T,NM_207034.2:c.*475C>T,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,4.605,0.001,1KG_EUR_AF,EDN3
484595,20:57899991:G>A,NM_207034.2:c.*477G>A,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,5.499,\N,\N,EDN3
484596,20:57900045:A>G,NM_207034.2:c.*531A>G,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,9.312,0.002,1KG_EAS_AF,EDN3
484597,20:57900097:C>T,NM_207034.2:c.*583C>T,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,11.3,\N,\N,EDN3
484598,20:57900109:A>C,NM_207034.2:c.*595A>C,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,2.652,0.0008,1KG_AFR_AF,EDN3
484599,20:57900114:A>G,NM_207034.2:c.*600A>G,\N,5/5,\N,Benign,\N,3_prime_UTR_variant,8.253,0.0386,1KG_AFR_AF,EDN3
484600,20:57900151:A>G,NM_207034.2:c.*637A>G,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,2.922,\N,\N,EDN3
484601,20:57900168:T>C,NM_207034.2:c.*654T>C,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,11.51,\N,\N,EDN3
484602,20:57900175:C>G,NM_207034.2:c.*661C>G,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,1.107,\N,\N,EDN3
484603,20:57900222:C>T,NM_207034.2:c.*708C>T,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,5.767,\N,\N,EDN3
484604,20:57900226:A>T,NM_207034.2:c.*712A>T,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,3.062,\N,\N,EDN3
484605,20:57900230:C>G,NM_207034.2:c.*716C>G,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,2.238,\N,\N,EDN3
484606,20:57900270:C>T,NM_207034.2:c.*756C>T,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,4.159,\N,\N,EDN3
484607,20:57900271:G>A,NM_207034.2:c.*757G>A,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,5.525,0.002,1KG_EAS_AF,EDN3
484608,20:57900322:A>C,NM_207034.2:c.*808A>C,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,11.89,\N,\N,EDN3
484609,20:57900366:C>T,NM_207034.2:c.*852C>T,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,0.057,\N,\N,EDN3
484610,20:57900378:C>G,NM_207034.2:c.*864C>G,\N,5/5,\N,Benign,\N,3_prime_UTR_variant,14.02,0.062,1KG_AFR_AF,EDN3
484611,20:57900415:G>A,NM_207034.2:c.*901G>A,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,14.42,\N,\N,EDN3
484612,20:57900428:C>T,NM_207034.2:c.*914C>T,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,4.705,\N,\N,EDN3
484613,20:57900429:C>T,NM_207034.2:c.*915C>T,\N,5/5,\N,Benign,\N,3_prime_UTR_variant,4.612,0.0139,1KG_EUR_AF,EDN3
484614,20:57900434:G>T,NM_207034.2:c.*920G>T,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,9.453,\N,\N,EDN3
484615,20:57900436:C>T,NM_207034.2:c.*922C>T,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,11.25,0.001,1KG_SAS_AF,EDN3
484616,20:57900461:C>G,NM_207034.2:c.*947C>G,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,6.468,\N,\N,EDN3
484617,20:57900471:C>T,NM_207034.2:c.*957C>T,\N,5/5,\N,Benign,\N,3_prime_UTR_variant,3.119,0.0613,1KG_AFR_AF,EDN3
484618,20:57900476:C>T,NM_207034.2:c.*962C>T,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,4.337,0.002,1KG_EAS_AF,EDN3
484619,20:57900477:G>A,NM_207034.2:c.*963G>A,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,4.702,0.001,1KG_EAS_AF,EDN3
484620,20:57900502:T>C,NM_207034.2:c.*988T>C,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,3.096,0.0015,1KG_AFR_AF,EDN3
484621,20:57900520:C>T,NM_207034.2:c.*1006C>T,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,6.153,0.0029,1KG_AMR_AF,EDN3
484622,20:57900521:G>C,NM_207034.2:c.*1007G>C,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,0.518,\N,\N,EDN3
484623,20:57900526:C>T,NM_207034.2:c.*1012C>T,\N,5/5,\N,Benign,\N,3_prime_UTR_variant,1.509,0.0567,1KG_AFR_AF,EDN3
484624,20:57900527:G>A,NM_207034.2:c.*1013G>A,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,2.838,\N,\N,EDN3
484625,20:57900566:GAGAT>G,NM_207034.2:c.*1055_*1058del,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,4.505,\N,\N,EDN3
484626,20:57900604:C>T,NM_207034.2:c.*1090C>T,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,0.384,0.001,1KG_EUR_AF,EDN3
484627,20:57900605:G>A,NM_207034.2:c.*1091G>A,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,4.401,0.0008,1KG_AFR_AF,EDN3
484628,20:57900637:G>T,NM_207034.2:c.*1123G>T,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,1.479,\N,\N,EDN3
484629,20:57900658:T>C,NM_207034.2:c.*1144T>C,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,8.694,0.0014,1KG_AMR_AF,EDN3
484630,20:57900661:A>G,NM_207034.2:c.*1147A>G,\N,5/5,\N,Benign,\N,3_prime_UTR_variant,9.084,0.0058,1KG_AMR_AF,EDN3
484631,20:57900666:CTGTG>C,NM_207034.2:c.*1156_*1159del,\N,5/5,\N,Benign,\N,3_prime_UTR_variant,7.907,0.0053,1KG_AFR_AF,EDN3
484632,20:57900694:T>C,NM_207034.2:c.*1180T>C,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,3.44,\N,\N,EDN3
484633,20:57900710:T>C,NM_207034.2:c.*1196T>C,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,1.853,0.001,1KG_EAS_AF,EDN3
484634,20:57900769:C>T,NM_207034.2:c.*1255C>T,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,13.07,\N,\N,EDN3
484635,20:57900770:G>A,NM_207034.2:c.*1256G>A,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,12.09,0.0008,1KG_AFR_AF,EDN3
484636,20:57900795:C>T,NM_207034.2:c.*1281C>T,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,0.582,\N,\N,EDN3
484637,20:57900807:T>C,NM_207034.2:c.*1293T>C,\N,5/5,\N,Benign,\N,3_prime_UTR_variant,3.055,0.0061,1KG_SAS_AF,EDN3
484638,20:57900810:A>T,NM_207034.2:c.*1296A>T,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,2.808,\N,\N,EDN3
484639,20:57900826:A>G,NM_207034.2:c.*1312A>G,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,1.05,\N,\N,EDN3
484640,20:57900858:A>G,NM_207034.2:c.*1344A>G,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,0.278,\N,\N,EDN3
484641,20:57900954:G>A,NM_207034.2:c.*1440G>A,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,0.869,0.0008,1KG_AFR_AF,EDN3
484642,20:57900997:A>G,NM_207034.2:c.*1483A>G,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,3.215,0.001,1KG_EUR_AF,EDN3
484643,20:57901017:A>C,NM_207034.2:c.*1503A>C,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,4.067,\N,\N,EDN3
484644,20:57901019:C>T,NM_207034.2:c.*1505C>T,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,8.399,\N,\N,EDN3
484645,20:57901020:C>T,NM_207034.2:c.*1506C>T,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,6.945,\N,\N,EDN3
484646,20:57901032:C>A,NM_207034.2:c.*1518C>A,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,4.156,\N,\N,EDN3
484647,20:57901032:C>G,NM_207034.2:c.*1518C>G,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,2.044,\N,\N,EDN3
484648,20:57901032:C>T,NM_207034.2:c.*1518C>T,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,3.304,\N,\N,EDN