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
854218,X:106871660:T>A,NM_002764.3:c.-199T>A,\N,1/7,\N,Unknown significance,\N,5_prime_UTR_variant,11,0.001,1KG_AFR_AF,PRPS1
854219,X:106871675:T>G,NM_002764.3:c.-184T>G,\N,1/7,\N,Benign,\N,5_prime_UTR_variant,11.68,0.015,OTO_TR_AF,PRPS1
854220,X:106871684:C>T,NM_002764.3:c.-175C>T,\N,1/7,\N,Unknown significance,\N,5_prime_UTR_variant,9.256,0.001,1KG_AFR_AF,PRPS1
854221,X:106871692:A>C,NM_002764.3:c.-167A>C,\N,1/7,\N,Benign,\N,5_prime_UTR_variant,5.883,0.015,OTO_TR_AF,PRPS1
854222,X:106871697:A>C,NM_002764.3:c.-162A>C,\N,1/7,\N,Benign,\N,5_prime_UTR_variant,10.85,0.02,OTO_TR_AF,PRPS1
854223,X:106871705:CG>C,NM_002764.3:c.-153del,\N,1/7,\N,Benign,\N,5_prime_UTR_variant,11.25,0.0288,1KG_EAS_AF,PRPS1
854224,X:106871783:G>T,NM_002764.3:c.-76G>T,\N,1/7,\N,Unknown significance,\N,5_prime_UTR_variant,7.388,0.0013,1KG_EAS_AF,PRPS1
854225,X:106871786:T>C,NM_002764.3:c.-73T>C,\N,1/7,\N,Unknown significance,\N,5_prime_UTR_variant,7.875,\N,\N,PRPS1
854226,X:106871809:T>G,NM_002764.3:c.-50T>G,\N,1/7,\N,Unknown significance,\N,5_prime_UTR_variant,7.596,\N,\N,PRPS1
854227,X:106871814:AG>A,NM_002764.3:c.-44del,\N,1/7,\N,Unknown significance,\N,5_prime_UTR_variant,9.202,0.0000987654,EXAC_SAS_AF,PRPS1
854228,X:106871823:G>A,NM_002764.3:c.-36G>A,\N,1/7,\N,Unknown significance,\N,5_prime_UTR_variant,8.695,0.000260756,EVS_AA_AF,PRPS1
854229,X:106871826:C>A,NM_002764.3:c.-33C>A,\N,1/7,\N,Unknown significance,\N,5_prime_UTR_variant,13.4,0.0000208899,EXAC_NFE_AF,PRPS1
854230,X:106871826:C>T,NM_002764.3:c.-33C>T,\N,1/7,\N,Unknown significance,\N,5_prime_UTR_variant,12.33,0.0000208899,EXAC_NFE_AF,PRPS1
854231,X:106871838:T>G,NM_002764.3:c.-21T>G,\N,1/7,\N,Unknown significance,\N,5_prime_UTR_variant,8.412,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,PRPS1
854232,X:106871855:C>T,NM_002764.3:c.-4C>T,\N,1/7,\N,Unknown significance,\N,5_prime_UTR_variant,17.42,0.000150648,EXAC_EAS_AF,PRPS1
854233,X:106871870:C>T,NM_002764.3:c.12C>T,NP_002755.1:p.Ile4=,1/7,\N,Unknown significance,\N,synonymous_variant,17.06,0.0000417214,EXAC_NFE_AF,PRPS1
854234,X:106871882:C>T,NM_002764.3:c.24C>T,NP_002755.1:p.Ser8=,1/7,\N,Unknown significance,\N,synonymous_variant,21.5,0.0014,1KG_SAS_AF,PRPS1
854235,X:106871888:C>G,NM_002764.3:c.30C>G,NP_002755.1:p.Ser10Arg,1/7,\N,Unknown significance,\N,missense_variant,22.9,\N,\N,PRPS1
854236,X:106871904:T>C,NM_002764.3:c.46T>C,NP_002755.1:p.Ser16Pro,1/7,\N,Pathogenic,Retinitis pigmentosa| syndromic,missense_variant,27.5,\N,\N,PRPS1
854237,X:106871912:A>G,NM_002764.3:c.54A>G,NP_002755.1:p.Lys18=,1/7,\N,Unknown significance,\N,synonymous_variant,5.567,0.0000987752,EXAC_SAS_AF,PRPS1
854238,X:106871918:T>C,NM_002764.3:c.60T>C,NP_002755.1:p.Ala20=,1/7,\N,Unknown significance,\N,synonymous_variant,10.45,0.0000417179,EXAC_NFE_AF,PRPS1
854239,X:106871947:T>G,NM_002764.3:c.89T>G,NP_002755.1:p.Val30Gly,1/7,\N,Unknown significance,\N,missense_variant,27.5,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,PRPS1
854240,X:106871950:T>G,NM_002764.3:c.92T>G,NP_002755.1:p.Val31Gly,1/7,\N,Unknown significance,\N,missense_variant,19.49,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,PRPS1
854241,X:106871965:G>C,NM_002764.3:c.107G>C,NP_002755.1:p.Ser36Thr,1/7,\N,Unknown significance,\N,missense_variant,24.1,0.00002091,EXAC_NFE_AF,PRPS1
854242,X:106871980:G>GTGTGGAAATTGGTGAAAGTGTACGTGGAGAGGATGTCTACATT,NM_002764.3:c.122_122+1insTGTGGAAATTGGTGAAAGTGTACGTGGAGAGGATGTCTACATT,NP_002755.1:p.Val56CysfsTer5,\N,\N,Unknown significance,\N,frameshift_variant&splice_region_variant,34,\N,\N,PRPS1
854243,X:106871993:T>C,NM_002764.3:c.122+13T>C,\N,\N,1/6,Unknown significance,\N,intron_variant,10.02,0.0000211184,EXAC_NFE_AF,PRPS1
854244,X:106871996:G>A,NM_002764.3:c.122+16G>A,\N,\N,1/6,Unknown significance,\N,intron_variant,12.24,\N,\N,PRPS1
854245,X:106872004:A>G,NM_002764.3:c.122+24A>G,\N,\N,1/6,Unknown significance,\N,intron_variant,8.367,0.000148633,EVS_EA_AF,PRPS1
854246,X:106872010:C>T,NM_002764.3:c.122+30C>T,\N,\N,1/6,Unknown significance,\N,intron_variant,9.024,0.000100756,EXAC_SAS_AF,PRPS1
854247,X:106872017:T>G,NM_002764.3:c.122+37T>G,\N,\N,1/6,Benign,\N,intron_variant,7.527,0.0382,1KG_AMR_AF,PRPS1
854248,X:106872018:G>A,NM_002764.3:c.122+38G>A,\N,\N,1/6,Unknown significance,\N,intron_variant,8.674,0.0000216755,EXAC_NFE_AF,PRPS1
854249,X:106872026:G>A,NM_002764.3:c.122+46G>A,\N,\N,1/6,Unknown significance,\N,intron_variant,7.284,0.00022686,EXAC_FIN_AF,PRPS1
854250,X:106872036:A>G,NM_002764.3:c.122+56A>G,\N,\N,1/6,Unknown significance,\N,intron_variant,6.359,0.0019,1KG_AMR_AF,PRPS1
854251,X:106872140:C>T,NM_002764.3:c.122+160C>T,\N,\N,1/6,Unknown significance,\N,intron_variant,12.58,0.001,1KG_AFR_AF,PRPS1
854252,X:106872177:TG>T,NM_002764.3:c.122+201del,\N,\N,1/6,Unknown significance,\N,intron_variant,\N,0.0013,1KG_EAS_AF,PRPS1
854253,X:106872194:A>G,NM_002764.3:c.122+214A>G,\N,\N,1/6,Unknown significance,\N,intron_variant,16.99,\N,\N,PRPS1
854254,X:106872234:C>T,NM_002764.3:c.122+254C>T,\N,\N,1/6,Benign,\N,intron_variant,8.964,0.0319,1KG_AFR_AF,PRPS1
854255,X:106872268:G>A,NM_002764.3:c.122+288G>A,\N,\N,1/6,Unknown significance,\N,intron_variant,9.831,0.0013,1KG_EUR_AF,PRPS1
854256,X:106872270:C>A,NM_002764.3:c.122+290C>A,\N,\N,1/6,Unknown significance,\N,intron_variant,11.75,\N,\N,PRPS1
854257,X:106872274:AG>A,NM_002764.3:c.122+298del,\N,\N,1/6,Unknown significance,\N,intron_variant,\N,0.0019,1KG_AMR_AF,PRPS1
854258,X:106872308:C>G,NM_002764.3:c.122+328C>G,\N,\N,1/6,Unknown significance,\N,intron_variant,21.6,\N,\N,PRPS1
854259,X:106872343:G>A,NM_002764.3:c.122+363G>A,\N,\N,1/6,Unknown significance,\N,intron_variant,12.13,\N,\N,PRPS1
854260,X:106872348:G>A,NM_002764.3:c.122+368G>A,\N,\N,1/6,Unknown significance,\N,intron_variant,12.07,0.0013,1KG_EUR_AF,PRPS1
854261,X:106872389:A>G,NM_002764.3:c.122+409A>G,\N,\N,1/6,Unknown significance,\N,intron_variant,9.894,0.0013,1KG_EAS_AF,PRPS1
854262,X:106872395:G>T,NM_002764.3:c.122+415G>T,\N,\N,1/6,Unknown significance,\N,intron_variant,6.774,\N,\N,PRPS1
854263,X:106872399:T>C,NM_002764.3:c.122+419T>C,\N,\N,1/6,Unknown significance,\N,intron_variant,4.705,\N,\N,PRPS1
854264,X:106872433:A>G,NM_002764.3:c.122+453A>G,\N,\N,1/6,Benign,\N,intron_variant,6.396,0.0091,1KG_EUR_AF,PRPS1
854265,X:106872575:C>A,NM_002764.3:c.122+595C>A,\N,\N,1/6,Benign,\N,intron_variant,7.53,0.0056,1KG_SAS_AF,PRPS1
854266,X:106872588:T>C,NM_002764.3:c.122+608T>C,\N,\N,1/6,Unknown significance,\N,intron_variant,0.599,0.001,1KG_AFR_AF,PRPS1
854267,X:106872613:T>G,NM_002764.3:c.122+633T>G,\N,\N,1/6,Unknown significance,\N,intron_variant,5.233,0.003,1KG_AFR_AF,PRPS1
854268,X:106872651:C>T,NM_002764.3:c.122+671C>T,\N,\N,1/6,Unknown significance,\N,intron_variant,8.646,\N,\N,PRPS1
854269,X:106872652:A>G,NM_002764.3:c.122+672A>G,\N,\N,1/6,Unknown significance,\N,intron_variant,8.976,\N,\N,PRPS1
854270,X:106872791:TA>T,NM_002764.3:c.122+813del,\N,\N,1/6,Unknown significance,\N,intron_variant,\N,\N,\N,PRPS1
854271,X:106872809:T>C,NM_002764.3:c.122+829T>C,\N,\N,1/6,Unknown significance,\N,intron_variant,8.576,\N,\N,PRPS1
854272,X:106872817:A>T,NM_002764.3:c.122+837A>T,\N,\N,1/6,Unknown significance,\N,intron_variant,0.775,0.001,1KG_AFR_AF,PRPS1
854273,X:106872877:A>G,NM_002764.3:c.122+897A>G,\N,\N,1/6,Unknown significance,\N,intron_variant,7.989,0.001,1KG_AFR_AF,PRPS1
854274,X:106872896:C>CG,NM_002764.3:c.122+916_122+917insG,\N,\N,1/6,Unknown significance,\N,intron_variant,\N,\N,\N,PRPS1
854275,X:106873143:TAATC>T,NM_002764.3:c.122+1165_122+1168del,\N,\N,1/6,Unknown significance,\N,intron_variant,\N,\N,\N,PRPS1
854276,X:106873166:TA>T,NM_002764.3:c.122+1187del,\N,\N,1/6,Unknown significance,\N,intron_variant,\N,0.0014,1KG_SAS_AF,PRPS1
854277,X:106873292:C>T,NM_002764.3:c.122+1312C>T,\N,\N,1/6,Unknown significance,\N,intron_variant,3.202,0.001,1KG_AFR_AF,PRPS1
854278,X:106873305:T>C,NM_002764.3:c.122+1325T>C,\N,\N,1/6,Unknown significance,\N,intron_variant,7.004,0.0038,1KG_AMR_AF,PRPS1
854279,X:106873343:T>A,NM_002764.3:c.122+1363T>A,\N,\N,1/6,Unknown significance,\N,intron_variant,18.75,0.001,1KG_AFR_AF,PRPS1
854280,X:106873413:A>G,NM_002764.3:c.122+1433A>G,\N,\N,1/6,Unknown significance,\N,intron_variant,5.543,\N,\N,PRPS1
854281,X:106873464:T>C,NM_002764.3:c.122+1484T>C,\N,\N,1/6,Benign,\N,intron_variant,12.74,0.0319,1KG_AFR_AF,PRPS1
854282,X:106873635:G>A,NM_002764.3:c.122+1655G>A,\N,\N,1/6,Benign,\N,intron_variant,9.688,0.2183,1KG_AFR_AF,PRPS1
854283,X:106873643:A>G,NM_002764.3:c.122+1663A>G,\N,\N,1/6,Unknown significance,\N,intron_variant,4.4,\N,\N,PRPS1
854284,X:106873647:G>C,NM_002764.3:c.122+1667G>C,\N,\N,1/6,Unknown significance,\N,intron_variant,1.186,\N,\N,PRPS1
854285,X:106873750:T>A,NM_002764.3:c.122+1770T>A,\N,\N,1/6,Unknown significance,\N,intron_variant,8.65,0.0038,1KG_AMR_AF,PRPS1
854286,X:106873803:A>AT,NM_002764.3:c.122+1832dup,\N,\N,1/6,Unknown significance,\N,intron_variant,\N,\N,\N,PRPS1
854287,X:106873819:T>C,NM_002764.3:c.122+1839T>C,\N,\N,1/6,Unknown significance,\N,intron_variant,1.467,0.002,1KG_AFR_AF,PRPS1
854288,X:106873821:C>A,NM_002764.3:c.122+1841C>A,\N,\N,1/6,Unknown significance,\N,intron_variant,2.196,0.0019,1KG_AMR_AF,PRPS1
854289,X:106873821:C>T,NM_002764.3:c.122+1841C>T,\N,\N,1/6,Unknown significance,\N,intron_variant,2.422,\N,\N,PRPS1
854290,X:106873886:T>G,NM_002764.3:c.122+1906T>G,\N,\N,1/6,Unknown significance,\N,intron_variant,5.37,\N,\N,PRPS1
854291,X:106873891:C>T,NM_002764.3:c.122+1911C>T,\N,\N,1/6,Unknown significance,\N,intron_variant,3.387,0.003,1KG_AFR_AF,PRPS1
854292,X:106873940:T>A,NM_002764.3:c.122+1960T>A,\N,\N,1/6,Unknown significance,\N,intron_variant,8.153,0.001,1KG_AFR_AF,PRPS1
854293,X:106873968:A>AAC,NM_002764.3:c.122+2023_122+2024dup,\N,\N,1/6,Benign,\N,intron_variant,8.241,0.3589,1KG_AFR_AF,PRPS1
854294,X:106873968:A>AACAC,NM_002764.3:c.122+2021_122+2024dup,\N,\N,1/6,Unknown significance,\N,intron_variant,8.017,\N,\N,PRPS1
854295,X:106873968:AAC>A,NM_002764.3:c.122+2023_122+2024del,\N,\N,1/6,Unknown significance,\N,intron_variant,8.926,\N,\N,PRPS1
854296,X:106874039:G>A,NM_002764.3:c.122+2059G>A,\N,\N,1/6,Unknown significance,\N,intron_variant,0.54,0.0026,1KG_EAS_AF,PRPS1
854297,X:106874102:A>AC,NM_002764.3:c.122+2125dup,\N,\N,1/6,Unknown significance,\N,intron_variant,\N,\N,\N,PRPS1
854298,X:106874166:CATA>C,NM_002764.3:c.122+2191_122+2193del,\N,\N,1/6,Unknown significance,\N,intron_variant,\N,\N,\N,PRPS1
854299,X:106874202:G>A,NM_002764.3:c.122+2222G>A,\N,\N,1/6,Unknown significance,\N,intron_variant,8.606,\N,\N,PRPS1
854300,X:106874243:G>A,NM_002764.3:c.122+2263G>A,\N,\N,1/6,Unknown significance,\N,intron_variant,0.315,\N,\N,PRPS1
854301,X:106874314:G>A,NM_002764.3:c.122+2334G>A,\N,\N,1/6,Unknown significance,\N,intron_variant,2.878,0.0013,1KG_EUR_AF,PRPS1
854302,X:106874318:T>C,NM_002764.3:c.122+2338T>C,\N,\N,1/6,Unknown significance,\N,intron_variant,2.506,0.0014,1KG_SAS_AF,PRPS1
854303,X:106874333:CT>C,NM_002764.3:c.122+2358del,\N,\N,1/6,Unknown significance,\N,intron_variant,\N,\N,\N,PRPS1
854304,X:106874351:A>G,NM_002764.3:c.122+2371A>G,\N,\N,1/6,Unknown significance,\N,intron_variant,1.929,0.0013,1KG_EUR_AF,PRPS1
854305,X:106874478:T>A,NM_002764.3:c.122+2498T>A,\N,\N,1/6,Unknown significance,\N,intron_variant,5.11,\N,\N,PRPS1
854306,X:106874479:A>G,NM_002764.3:c.122+2499A>G,\N,\N,1/6,Unknown significance,\N,intron_variant,0.185,\N,\N,PRPS1
854307,X:106874494:G>C,NM_002764.3:c.122+2514G>C,\N,\N,1/6,Unknown significance,\N,intron_variant,0.865,0.0013,1KG_EUR_AF,PRPS1
854308,X:106874496:G>A,NM_002764.3:c.122+2516G>A,\N,\N,1/6,Unknown significance,\N,intron_variant,3.068,\N,\N,PRPS1
854309,X:106874547:G>A,NM_002764.3:c.122+2567G>A,\N,\N,1/6,Unknown significance,\N,intron_variant,0.157,\N,\N,PRPS1
854310,X:106874548:C>T,NM_002764.3:c.122+2568C>T,\N,\N,1/6,Unknown significance,\N,intron_variant,0.585,\N,\N,PRPS1
854311,X:106874589:G>A,NM_002764.3:c.122+2609G>A,\N,\N,1/6,Unknown significance,\N,intron_variant,1.979,0.0013,1KG_EUR_AF,PRPS1
854312,X:106874630:A>G,NM_002764.3:c.122+2650A>G,\N,\N,1/6,Unknown significance,\N,intron_variant,0.035,\N,\N,PRPS1
854313,X:106874682:A>C,NM_002764.3:c.122+2702A>C,\N,\N,1/6,Unknown significance,\N,intron_variant,0.1,\N,\N,PRPS1
854314,X:106874862:C>T,NM_002764.3:c.122+2882C>T,\N,\N,1/6,Benign,\N,intron_variant,3.464,0.0125,1KG_SAS_AF,PRPS1
854315,X:106874942:C>T,NM_002764.3:c.122+2962C>T,\N,\N,1/6,Unknown significance,\N,intron_variant,0.083,\N,\N,PRPS1
854316,X:106874974:T>A,NM_002764.3:c.122+2994T>A,\N,\N,1/6,Benign,\N,intron_variant,2.109,0.0319,1KG_AFR_AF,PRPS1
854317,X:106875002:C>T,NM_002764.3:c.122+3022C>T,\N,\N,1/6,Unknown significance,\N,intron_variant,0.128,0.0013,1KG_EAS_AF|1KG_EUR_AF,PRPS1
854318,X:106875073:C>T,NM_002764.3:c.122+3093C>T,\N,\N,1/6,Unknown significance,\N,intron_variant,0.331,\N,\N,PRPS1
854319,X:106875091:T>A,NM_002764.3:c.122+3111T>A,\N,\N,1/6,Unknown significance,\N,intron_variant,3.761,\N,\N,PRPS1
854320,X:106875209:G>A,NM_002764.3:c.122+3229G>A,\N,\N,1/6,Unknown significance,\N,intron_variant,0.151,0.0013,1KG_EAS_AF,PRPS1
854321,X:106875213:C>T,NM_002764.3:c.122+3233C>T,\N,\N,1/6,Unknown significance,\N,intron_variant,3.368,\N,\N,PRPS1
854322,X:106875229:A>G,NM_002764.3:c.122+3249A>G,\N,\N,1/6,Unknown significance,\N,intron_variant,11.44,0.0019,1KG_AMR_AF,PRPS1
854323,X:106875324:T>C,NM_002764.3:c.122+3344T>C,\N,\N,1/6,Benign,\N,intron_variant,1.737,0.0309,1KG_AFR_AF,PRPS1
854324,X:106875353:C>T,NM_002764.3:c.122+3373C>T,\N,\N,1/6,Unknown significance,\N,intron_variant,2.491,0.0014,1KG_SAS_AF,PRPS1
854325,X:106875589:G>A,NM_002764.3:c.122+3609G>A,\N,\N,1/6,Unknown significance,\N,intron_variant,1.395,0.0042,1KG_SAS_AF,PRPS1
854326,X:106875615:C>T,NM_002764.3:c.122+3635C>T,\N,\N,1/6,Unknown significance,\N,intron_variant,4.423,0.0038,1KG_AMR_AF,PRPS1
854327,X:106875621:A>G,NM_002764.3:c.122+3641A>G,\N,\N,1/6,Unknown significance,\N,intron_variant,1.788,0.001,1KG_AFR_AF,PRPS1
854328,X:106875626:C>T,NM_002764.3:c.122+3646C>T,\N,\N,1/6,Unknown significance,\N,intron_variant,2.125,\N,\N,PRPS1
854329,X:106875712:A>G,NM_002764.3:c.122+3732A>G,\N,\N,1/6,Unknown significance,\N,intron_variant,0.303,\N,\N,PRPS1
854330,X:106875720:C>T,NM_002764.3:c.122+3740C>T,\N,\N,1/6,Benign,\N,intron_variant,2.284,0.0078,1KG_EUR_AF,PRPS1
854331,X:106875741:G>C,NM_002764.3:c.122+3761G>C,\N,\N,1/6,Unknown significance,\N,intron_variant,0.918,0.001,1KG_AFR_AF,PRPS1
854332,X:106875759:T>A,NM_002764.3:c.122+3779T>A,\N,\N,1/6,Unknown significance,\N,intron_variant,7.526,0.0028,1KG_SAS_AF,PRPS1
854333,X:106875797:T>C,NM_002764.3:c.122+3817T>C,\N,\N,1/6,Unknown significance,\N,intron_variant,1.308,\N,\N,PRPS1
854334,X:106875867:G>T,NM_002764.3:c.122+3887G>T,\N,\N,1/6,Benign,\N,intron_variant,16.48,0.2303,1KG_AFR_AF,PRPS1
854335,X:106875940:A>G,NM_002764.3:c.122+3960A>G,\N,\N,1/6,Unknown significance,\N,intron_variant,5.772,\N,\N,PRPS1
854336,X:106876014:T>G,NM_002764.3:c.122+4034T>G,\N,\N,1/6,Unknown significance,\N,intron_variant,5.138,\N,\N,PRPS1
854337,X:106876047:C>T,NM_002764.3:c.122+4067C>T,\N,\N,1/6,Unknown significance,\N,intron_variant,3.936,\N,\N,PRPS1
854338,X:106876171:A>G,NM_002764.3:c.122+4191A>G,\N,\N,1/6,Unknown significance,\N,intron_variant,3.369,0.001,1KG_AFR_AF,PRPS1
854339,X:106876188:C>T,NM_002764.3:c.122+4208C>T,\N,\N,1/6,Unknown significance,\N,intron_variant,2.317,\N,\N,PRPS1
854340,X:106876248:G>C,NM_002764.3:c.122+4268G>C,\N,\N,1/6,Benign,\N,intron_variant,0.182,0.2562,1KG_AFR_AF,PRPS1
854341,X:106876272:A>G,NM_002764.3:c.122+4292A>G,\N,\N,1/6,Unknown significance,\N,intron_variant,5.191,0.001,1KG_AFR_AF,PRPS1
854342,X:106876273:T>A,NM_002764.3:c.122+4293T>A,\N,\N,1/6,Unknown significance,\N,intron_variant,8.765,0.001,1KG_AFR_AF,PRPS1
854343,X:106876314:A>T,NM_002764.3:c.122+4334A>T,\N,\N,1/6,Benign,\N,intron_variant,8.152,0.0105,1KG_EAS_AF,PRPS1
854344,X:106876331:C>T,NM_002764.3:c.122+4351C>T,\N,\N,1/6,Unknown significance,\N,intron_variant,4.291,0.002,1KG_AFR_AF,PRPS1
854345,X:106876349:G>T,NM_002764.3:c.122+4369G>T,\N,\N,1/6,Unknown significance,\N,intron_variant,1.321,0.0019,1KG_AMR_AF,PRPS1
854346,X:106876375:G>A,NM_002764.3:c.122+4395G>A,\N,\N,1/6,Unknown significance,\N,intron_variant,0.216,0.0026,1KG_EUR_AF,PRPS1
854347,X:106876381:G>A,NM_002764.3:c.122+4401G>A,\N,\N,1/6,Benign,\N,intron_variant,0.59,0.2562,1KG_AFR_AF,PRPS1
854348,X:106876496:C>CA,NM_002764.3:c.122+4522dup,\N,\N,1/6,Unknown significance,\N,intron_variant,\N,\N,\N,PRPS1
854349,X:106876511:G>A,NM_002764.3:c.122+4531G>A,\N,\N,1/6,Unknown significance,\N,intron_variant,4.206,0.0019,1KG_AMR_AF,PRPS1
854350,X:106876525:G>A,NM_002764.3:c.122+4545G>A,\N,\N,1/6,Unknown significance,\N,intron_variant,0.388,0.0014,1KG_SAS_AF,PRPS1
854351,X:106876525:G>T,NM_002764.3:c.122+4545G>T,\N,\N,1/6,Unknown significance,\N,intron_variant,0.069,0.0026,1KG_EAS_AF,PRPS1
854352,X:106876596:G>A,NM_002764.3:c.122+4616G>A,\N,\N,1/6,Benign,\N,intron_variant,1.732,0.0091,1KG_EUR_AF,PRPS1
854353,X:106876615:G>A,NM_002764.3:c.122+4635G>A,\N,\N,1/6,Benign,\N,intron_variant,1.757,0.1221,1KG_AMR_AF,PRPS1
854354,X:106876734:G>A,NM_002764.3:c.122+4754G>A,\N,\N,1/6,Unknown significance,\N,intron_variant,7.679,\N,\N,PRPS1
854355,X:106876860:A>T,NM_002764.3:c.122+4880A>T,\N,\N,1/6,Benign,\N,intron_variant,0.16,0.009,1KG_AFR_AF,PRPS1
854356,X:106877017:C>T,NM_002764.3:c.122+5037C>T,\N,\N,1/6,Benign,\N,intron_variant,0.382,0.0167,1KG_SAS_AF,PRPS1
854357,X:106877055:G>A,NM_002764.3:c.122+5075G>A,\N,\N,1/6,Unknown significance,\N,intron_variant,0.118,\N,\N,PRPS1
854358,X:106877093:G>A,NM_002764.3:c.122+5113G>A,\N,\N,1/6,Unknown significance,\N,intron_variant,2.101,\N,\N,PRPS1
854359,X:106877152:G>A,NM_002764.3:c.122+5172G>A,\N,\N,1/6,Benign,\N,intron_variant,0.288,0.0139,1KG_SAS_AF,PRPS1
854360,X:106877308:G>A,NM_002764.3:c.123-5217G>A,\N,\N,1/6,Unknown significance,\N,intron_variant,1.56,\N,\N,PRPS1
854361,X:106877331:T>A,NM_002764.3:c.123-5194T>A,\N,\N,1/6,Unknown significance,\N,intron_variant,6.591,0,1KG_ALL_AF|1KG_AFR_AF|1KG_AMR_AF|1KG_EAS_AF|1KG_EUR_AF|1KG_SAS_AF,PRPS1
854362,X:106877445:T>G,NM_002764.3:c.123-5080T>G,\N,\N,1/6,Unknown significance,\N,intron_variant,2.606,0.001,1KG_AFR_AF,PRPS1
854363,X:106877491:C>A,NM_002764.3:c.123-5034C>A,\N,\N,1/6,Unknown significance,\N,intron_variant,0.604,\N,\N,PRPS1
854364,X:106877506:G>A,NM_002764.3:c.123-5019G>A,\N,\N,1/6,Unknown significance,\N,intron_variant,0.413,\N,\N,PRPS1
854365,X:106877526:G>A,NM_002764.3:c.123-4999G>A,\N,\N,1/6,Unknown significance,\N,intron_variant,0.236,0.0013,1KG_EUR_AF,PRPS1
854366,X:106877545:C>T,NM_002764.3:c.123-4980C>T,\N,\N,1/6,Unknown significance,\N,intron_variant,0.353,\N,\N,PRPS1
854367,X:106877547:C>T,NM_002764.3:c.123-4978C>T,\N,\N,1/6,Unknown significance,\N,intron_variant,2.844,\N,\N,PRPS1
854368,X:106877589:C>T,NM_002764.3:c.123-4936C>T,\N,\N,1/6,Benign,\N,intron_variant,1.512,0.0209,1KG_SAS_AF,PRPS1
854369,X:106877651:C>T,NM_002764.3:c.123-4874C>T,\N,\N,1/6,Benign,\N,intron_variant,1.709,0.005,1KG_AFR_AF,PRPS1
854370,X:106877750:A>C,NM_002764.3:c.123-4775A>C,\N,\N,1/6,Unknown significance,\N,intron_variant,1.435,\N,\N,PRPS1
854371,X:106877863:T>C,NM_002764.3:c.123-4662T>C,\N,\N,1/6,Unknown significance,\N,intron_variant,4.935,0.001,1KG_AFR_AF,PRPS1
854372,X:106877904:A>T,NM_002764.3:c.123-4621A>T,\N,\N,1/6,Unknown significance,\N,intron_variant,0.298,\N,\N,PRPS1
854373,X:106877944:A>G,NM_002764.3:c.123-4581A>G,\N,\N,1/6,Unknown significance,\N,intron_variant,0.945,0.001,1KG_AFR_AF,PRPS1
854374,X:106877955:G>A,NM_002764.3:c.123-4570G>A,\N,\N,1/6,Unknown significance,\N,intron_variant,0.703,0.001,1KG_AFR_AF,PRPS1
854375,X:106878000:G>GAGAT,NM_002764.3:c.123-4523_123-4520dup,\N,\N,1/6,Benign,\N,intron_variant,\N,0.0167,1KG_SAS_AF,PRPS1
854376,X:106878065:G>GT,NM_002764.3:c.123-4446dup,\N,\N,1/6,Unknown significance,\N,intron_variant,0.485,\N,\N,PRPS1
854377,X:106878065:G>T,NM_002764.3:c.123-4460G>T,\N,\N,1/6,Unknown significance,\N,intron_variant,0.212,\N,\N,PRPS1
854378,X:106878070:T>G,NM_002764.3:c.123-4455T>G,\N,\N,1/6,Unknown significance,\N,intron_variant,0.143,0.0014,1KG_SAS_AF,PRPS1
854379,X:106878138:C>T,NM_002764.3:c.123-4387C>T,\N,\N,1/6,Unknown significance,\N,intron_variant,1.124,0.0014,1KG_SAS_AF,PRPS1
854380,X:106878178:C>T,NM_002764.3:c.123-4347C>T,\N,\N,1/6,Unknown significance,\N,intron_variant,1.516,\N,\N,PRPS1
854381,X:106878236:A>AT,NM_002764.3:c.123-4282dup,\N,\N,1/6,Unknown significance,\N,intron_variant,\N,0.001,1KG_AFR_AF,PRPS1
854382,X:106878245:T>C,NM_002764.3:c.123-4280T>C,\N,\N,1/6,Unknown significance,\N,intron_variant,2.16,0.0026,1KG_EUR_AF,PRPS1
854383,X:106878272:C>T,NM_002764.3:c.123-4253C>T,\N,\N,1/6,Unknown significance,\N,intron_variant,0.636,0.002,1KG_AFR_AF,PRPS1
854384,X:106878307:G>A,NM_002764.3:c.123-4218G>A,\N,\N,1/6,Unknown significance,\N,intron_variant,1.413,0.0014,1KG_SAS_AF,PRPS1
854385,X:106878314:G>C,NM_002764.3:c.123-4211G>C,\N,\N,1/6,Unknown significance,\N,intron_variant,0.462,\N,\N,PRPS1
854386,X:106878318:G>A,NM_002764.3:c.123-4207G>A,\N,\N,1/6,Unknown significance,\N,intron_variant,0.133,0.0013,1KG_EUR_AF,PRPS1
854387,X:106878322:C>T,NM_002764.3:c.123-4203C>T,\N,\N,1/6,Unknown significance,\N,intron_variant,0.463,0.0019,1KG_AMR_AF,PRPS1
854388,X:106878334:G>A,NM_002764.3:c.123-4191G>A,\N,\N,1/6,Unknown significance,\N,intron_variant,7.82,0.001,1KG_AFR_AF,PRPS1
854389,X:106878351:G>A,NM_002764.3:c.123-4174G>A,\N,\N,1/6,Benign,\N,intron_variant,7.177,0.0598,1KG_AFR_AF,PRPS1
854390,X:106878353:GAGCCACCGTGCCCAGCGATA>G,NM_002764.3:c.123-4170_123-4151del,\N,\N,1/6,Benign,\N,intron_variant,8.328,0.0589,1KG_EAS_AF,PRPS1
854391,X:106878356:C>T,NM_002764.3:c.123-4169C>T,\N,\N,1/6,Unknown significance,\N,intron_variant,7.016,0.0013,1KG_EUR_AF,PRPS1
854392,X:106878369:C>T,NM_002764.3:c.123-4156C>T,\N,\N,1/6,Unknown significance,\N,intron_variant,2.659,0.0014,1KG_SAS_AF,PRPS1
854393,X:106878428:T>C,NM_002764.3:c.123-4097T>C,\N,\N,1/6,Unknown significance,\N,intron_variant,3.184,0.0013,1KG_EUR_AF,PRPS1
854394,X:106878507:G>A,NM_002764.3:c.123-4018G>A,\N,\N,1/6,Unknown significance,\N,intron_variant,2.556,\N,\N,PRPS1
854395,X:106878518:A>T,NM_002764.3:c.123-4007A>T,\N,\N,1/6,Unknown significance,\N,intron_variant,2.221,\N,\N,PRPS1
854396,X:106878571:A>C,NM_002764.3:c.123-3954A>C,\N,\N,1/6,Unknown significance,\N,intron_variant,2.302,0.003,1KG_AFR_AF,PRPS1
854397,X:106878625:C>T,NM_002764.3:c.123-3900C>T,\N,\N,1/6,Benign,\N,intron_variant,1.016,0.2183,1KG_AFR_AF,PRPS1
854398,X:106878639:A>G,NM_002764.3:c.123-3886A>G,\N,\N,1/6,Benign,\N,intron_variant,0.454,0.0219,1KG_AFR_AF,PRPS1
854399,X:106878675:A>AT,NM_002764.3:c.123-3836dup,\N,\N,1/6,Benign,\N,intron_variant,0.25,0.2213,1KG_AFR_AF,PRPS1
854400,X:106878675:A>ATT,NM_002764.3:c.123-3837_123-3836dup,\N,\N,1/6,Benign,\N,intron_variant,0.227,0.2173,1KG_AFR_AF,PRPS1
854401,X:106878675:A>ATTTT,NM_002764.3:c.123-3839_123-3836dup,\N,\N,1/6,Unknown significance,\N,intron_variant,\N,0.001,1KG_AFR_AF,PRPS1
854402,X:106878675:AT>A,NM_002764.3:c.123-3836del,\N,\N,1/6,Unknown significance,\N,intron_variant,1.887,\N,\N,PRPS1
854403,X:106878704:C>G,NM_002764.3:c.123-3821C>G,\N,\N,1/6,Benign,\N,intron_variant,1.497,0.0052,1KG_EUR_AF,PRPS1
854404,X:106878706:C>G,NM_002764.3:c.123-3819C>G,\N,\N,1/6,Benign,\N,intron_variant,0.447,0.0638,1KG_AFR_AF,PRPS1
854405,X:106878785:C>T,NM_002764.3:c.123-3740C>T,\N,\N,1/6,Unknown significance,\N,intron_variant,3.448,\N,\N,PRPS1
854406,X:106878798:A>G,NM_002764.3:c.123-3727A>G,\N,\N,1/6,Unknown significance,\N,intron_variant,2.393,\N,\N,PRPS1
854407,X:106878823:A>G,NM_002764.3:c.123-3702A>G,\N,\N,1/6,Benign,\N,intron_variant,0.131,0.2885,1KG_EUR_AF,PRPS1
854408,X:106878882:C>T,NM_002764.3:c.123-3643C>T,\N,\N,1/6,Unknown significance,\N,intron_variant,2.167,\N,\N,PRPS1
854409,X:106878891:T>C,NM_002764.3:c.123-3634T>C,\N,\N,1/6,Unknown significance,\N,intron_variant,1.734,0.0013,1KG_EUR_AF,PRPS1
854410,X:106878897:G>A,NM_002764.3:c.123-3628G>A,\N,\N,1/6,Unknown significance,\N,intron_variant,1.534,\N,\N,PRPS1
854411,X:106878944:C>T,NM_002764.3:c.123-3581C>T,\N,\N,1/6,Unknown significance,\N,intron_variant,2.859,0.0013,1KG_EUR_AF,PRPS1
854412,X:106879025:T>A,NM_002764.3:c.123-3500T>A,\N,\N,1/6,Unknown significance,\N,intron_variant,4.874,0.0019,1KG_AMR_AF,PRPS1
854413,X:106879026:C>A,NM_002764.3:c.123-3499C>A,\N,\N,1/6,Unknown significance,\N,intron_variant,0.379,0.0019,1KG_AMR_AF,PRPS1
854414,X:106879045:C>T,NM_002764.3:c.123-3480C>T,\N,\N,1/6,Unknown significance,\N,intron_variant,3.841,0.0014,1KG_SAS_AF,PRPS1
854415,X:106879072:C>T,NM_002764.3:c.123-3453C>T,\N,\N,1/6,Benign,\N,intron_variant,1.677,0.011,1KG_AFR_AF,PRPS1
854416,X:106879105:A>G,NM_002764.3:c.123-3420A>G,\N,\N,1/6,Unknown significance,\N,intron_variant,1.372,0.0019,1KG_AMR_AF,PRPS1
854417,X:106879113:AC>A,NM_002764.3:c.123-3408del,\N,\N,1/6,Benign,\N,intron_variant,0.351,0.2273,1KG_AFR_AF,PRPS1
854418,X:106879204:C>T,NM_002764.3:c.123-3321C>T,\N,\N,1/6,Benign,\N,intron_variant,9.103,0.0379,1KG_EUR_AF,PRPS1
854419,X:106879215:G>A,NM_002764.3:c.123-3310G>A,\N,\N,1/6,Unknown significance,\N,intron_variant,2.359,0.0014,1KG_SAS_AF,PRPS1
854420,X:106879221:T>G,NM_002764.3:c.123-3304T>G,\N,\N,1/6,Unknown significance,\N,intron_variant,8.276,0.0039,1KG_EUR_AF,PRPS1
854421,X:106879245:G>A,NM_002764.3:c.123-3280G>A,\N,\N,1/6,Benign,\N,intron_variant,7.588,0.005,1KG_AFR_AF,PRPS1
854422,X:106879267:C>T,NM_002764.3:c.123-3258C>T,\N,\N,1/6,Benign,\N,intron_variant,2.22,0.2054,1KG_AFR_AF,PRPS1
854423,X:106879299:A>C,NM_002764.3:c.123-3226A>C,\N,\N,1/6,Benign,\N,intron_variant,0.156,0.0219,1KG_AFR_AF,PRPS1
854424,X:106879301:A>C,NM_002764.3:c.123-3224A>C,\N,\N,1/6,Unknown significance,\N,intron_variant,0.132,0.0038,1KG_AMR_AF,PRPS1
854425,X:106879304:A>C,NM_002764.3:c.123-3221A>C,\N,\N,1/6,Unknown significance,\N,intron_variant,0.149,\N,\N,PRPS1
854426,X:106879347:T>A,NM_002764.3:c.123-3178T>A,\N,\N,1/6,Unknown significance,\N,intron_variant,6.668,\N,\N,PRPS1
854427,X:106879361:T>C,NM_002764.3:c.123-3164T>C,\N,\N,1/6,Benign,\N,intron_variant,1.628,0.0319,1KG_AFR_AF,PRPS1
854428,X:106879361:T>G,NM_002764.3:c.123-3164T>G,\N,\N,1/6,Unknown significance,\N,intron_variant,2.759,0.0038,1KG_AMR_AF,PRPS1
854429,X:106879376:G>A,NM_002764.3:c.123-3149G>A,\N,\N,1/6,Unknown significance,\N,intron_variant,0.367,0.0013,1KG_EAS_AF,PRPS1
854430,X:106879384:G>A,NM_002764.3:c.123-3141G>A,\N,\N,1/6,Benign,\N,intron_variant,2.636,0.0287,1KG_EUR_AF,PRPS1
854431,X:106879384:G>T,NM_002764.3:c.123-3141G>T,\N,\N,1/6,Unknown significance,\N,intron_variant,1.263,\N,\N,PRPS1
854432,X:106879388:T>C,NM_002764.3:c.123-3137T>C,\N,\N,1/6,Unknown significance,\N,intron_variant,2.968,0.0014,1KG_SAS_AF,PRPS1
854433,X:106879402:G>T,NM_002764.3:c.123-3123G>T,\N,\N,1/6,Unknown significance,\N,intron_variant,2.703,0.0013,1KG_EUR_AF,PRPS1
854434,X:106879439:G>A,NM_002764.3:c.123-3086G>A,\N,\N,1/6,Benign,\N,intron_variant,0.491,0.0157,1KG_EUR_AF,PRPS1
854435,X:106879474:C>T,NM_002764.3:c.123-3051C>T,\N,\N,1/6,Unknown significance,\N,intron_variant,1.153,0.0014,1KG_SAS_AF,PRPS1
854436,X:106879509:C>T,NM_002764.3:c.123-3016C>T,\N,\N,1/6,Unknown significance,\N,intron_variant,0.053,0.0013,1KG_EAS_AF,PRPS1
854437,X:106879546:C>T,NM_002764.3:c.123-2979C>T,\N,\N,1/6,Benign,\N,intron_variant,0.672,0.005,1KG_AFR_AF,PRPS1
854438,X:106879551:T>C,NM_002764.3:c.123-2974T>C,\N,\N,1/6,Benign,\N,intron_variant,1.882,0.0389,1KG_AFR_AF,PRPS1
854439,X:106879601:T>G,NM_002764.3:c.123-2924T>G,\N,\N,1/6,Benign,\N,intron_variant,3.613,0.2303,1KG_AFR_AF,PRPS1
854440,X:106879634:G>A,NM_002764.3:c.123-2891G>A,\N,\N,1/6,Benign,\N,intron_variant,1.76,0.007,1KG_SAS_AF,PRPS1
854441,X:106879641:C>T,NM_002764.3:c.123-2884C>T,\N,\N,1/6,Unknown significance,\N,intron_variant,1.929,0.001,1KG_AFR_AF,PRPS1
854442,X:106879642:G>A,NM_002764.3:c.123-2883G>A,\N,\N,1/6,Benign,\N,intron_variant,0.367,0.0524,1KG_EAS_AF,PRPS1
854443,X:106879649:C>G,NM_002764.3:c.123-2876C>G,\N,\N,1/6,Unknown significance,\N,intron_variant,2.661,0.0014,1KG_SAS_AF,PRPS1
854444,X:106879663:A>T,NM_002764.3:c.123-2862A>T,\N,\N,1/6,Unknown significance,\N,intron_variant,4.6,0.001,1KG_AFR_AF,PRPS1
854445,X:106879743:AT>A,NM_002764.3:c.123-2774del,\N,\N,1/6,Unknown significance,\N,intron_variant,8.398,0.0028,1KG_SAS_AF,PRPS1
854446,X:106879797:T>C,NM_002764.3:c.123-2728T>C,\N,\N,1/6,Unknown significance,\N,intron_variant,8.381,\N,\N,PRPS1
854447,X:106879870:A>G,NM_002764.3:c.123-2655A>G,\N,\N,1/6,Unknown significance,\N,intron_variant,11.78,0.0013,1KG_EUR_AF,PRPS1
854448,X:106879887:C>A,NM_002764.3:c.123-2638C>A,\N,\N,1/6,Unknown significance,\N,intron_variant,7.526,0.0039,1KG_EUR_AF,PRPS1
854449,X:106879955:G>T,NM_002764.3:c.123-2570G>T,\N,\N,1/6,Unknown significance,\N,intron_variant,7.079,0.0013,1KG_EUR_AF,PRPS1
854450,X:106879968:A>G,NM_002764.3:c.123-2557A>G,\N,\N,1/6,Benign,\N,intron_variant,5.587,0.0131,1KG_EUR_AF,PRPS1
854451,X:106879984:G>C,NM_002764.3:c.123-2541G>C,\N,\N,1/6,Unknown significance,\N,intron_variant,9.619,\N,\N,PRPS1
854452,X:106880005:G>T,NM_002764.3:c.123-2520G>T,\N,\N,1/6,Unknown significance,\N,intron_variant,9.546,0.0014,1KG_SAS_AF,PRPS1
854453,X:106880065:G>A,NM_002764.3:c.123-2460G>A,\N,\N,1/6,Unknown significance,\N,intron_variant,3.526,0.0013,1KG_EAS_AF,PRPS1
854454,X:106880077:T>C,NM_002764.3:c.123-2448T>C,\N,\N,1/6,Unknown significance,\N,intron_variant,5.665,\N,\N,PRPS1
854455,X:106880090:G>T,NM_002764.3:c.123-2435G>T,\N,\N,1/6,Unknown significance,\N,intron_variant,0.323,0.002,1KG_AFR_AF,PRPS1
854456,X:106880113:T>C,NM_002764.3:c.123-2412T>C,\N,\N,1/6,Unknown significance,\N,intron_variant,3.093,0.0019,1KG_AMR_AF,PRPS1
854457,X:106880115:C>G,NM_002764.3:c.123-2410C>G,\N,\N,1/6,Unknown significance,\N,intron_variant,1.021,\N,\N,PRPS1
854458,X:106880151:T>C,NM_002764.3:c.123-2374T>C,\N,\N,1/6,Unknown significance,\N,intron_variant,7.103,0.0019,1KG_AMR_AF,PRPS1
854459,X:106880155:A>C,NM_002764.3:c.123-2370A>C,\N,\N,1/6,Unknown significance,\N,intron_variant,4.13,\N,\N,PRPS1
854460,X:106880157:T>C,NM_002764.3:c.123-2368T>C,\N,\N,1/6,Unknown significance,\N,intron_variant,7.85,\N,\N,PRPS1
854461,X:106880182:A>G,NM_002764.3:c.123-2343A>G,\N,\N,1/6,Unknown significance,\N,intron_variant,3.189,0.0013,1KG_EAS_AF,PRPS1
854462,X:106880217:T>C,NM_002764.3:c.123-2308T>C,\N,\N,1/6,Unknown significance,\N,intron_variant,2.376,0.0014,1KG_SAS_AF,PRPS1
854463,X:106880224:G>GTAT,NM_002764.3:c.123-2299_123-2297dup,\N,\N,1/6,Unknown significance,\N,intron_variant,\N,0.001,1KG_AFR_AF,PRPS1
854464,X:106880262:A>G,NM_002764.3:c.123-2263A>G,\N,\N,1/6,Benign,\N,intron_variant,4.828,0.2552,1KG_AFR_AF,PRPS1
854465,X:106880303:ATGT>A,NM_002764.3:c.123-2217_123-2215del,\N,\N,1/6,Unknown significance,\N,intron_variant,4.92,\N,\N,PRPS1
854466,X:106880312:G>A,NM_002764.3:c.123-2213G>A,\N,\N,1/6,Benign,\N,intron_variant,1.222,0.0821,1KG_AMR_AF,PRPS1
854467,X:106880318:T>C,NM_002764.3:c.123-2207T>C,\N,\N,1/6,Unknown significance,\N,intron_variant,3.177,\N,\N,PRPS1
854468,X:106880334:T>A,NM_002764.3:c.123-2191T>A,\N,\N,1/6,Unknown significance,\N,intron_variant,1.154,\N,\N,PRPS1
854469,X:106880338:A>C,NM_002764.3:c.123-2187A>C,\N,\N,1/6,Unknown significance,\N,intron_variant,0.019,0.0014,1KG_SAS_AF,PRPS1
854470,X:106880339:A>T,NM_002764.3:c.123-2186A>T,\N,\N,1/6,Unknown significance,\N,intron_variant,0.111,\N,\N,PRPS1
854471,X:106880355:C>T,NM_002764.3:c.123-2170C>T,\N,\N,1/6,Unknown significance,\N,intron_variant,1.009,0.003,1KG_AFR_AF,PRPS1
854472,X:106880394:T>A,NM_002764.3:c.123-2131T>A,\N,\N,1/6,Unknown significance,\N,intron_variant,7.091,0.0013,1KG_EAS_AF,PRPS1
854473,X:106880415:C>T,NM_002764.3:c.123-2110C>T,\N,\N,1/6,Unknown significance,\N,intron_variant,2.101,0.0013,1KG_EUR_AF,PRPS1
854474,X:106880420:A>G,NM_002764.3:c.123-2105A>G,\N,\N,1/6,Unknown significance,\N,intron_variant,1.109,\N,\N,PRPS1
854475,X:106880484:A>C,NM_002764.3:c.123-2041A>C,\N,\N,1/6,Unknown significance,\N,intron_variant,1.629,\N,\N,PRPS1
854476,X:106880507:G>A,NM_002764.3:c.123-2018G>A,\N,\N,1/6,Benign,\N,intron_variant,9.278,0.0095,1KG_AMR_AF,PRPS1
854477,X:106880649:A>G,NM_002764.3:c.123-1876A>G,\N,\N,1/6,Benign,\N,intron_variant,1.56,0.0608,1KG_AFR_AF,PRPS1
854478,X:106880683:T>C,NM_002764.3:c.123-1842T>C,\N,\N,1/6,Unknown significance,\N,intron_variant,2.949,\N,\N,PRPS1
854479,X:106880685:A>G,NM_002764.3:c.123-1840A>G,\N,\N,1/6,Unknown significance,\N,intron_variant,1.494,0.001,1KG_AFR_AF,PRPS1
854480,X:106880751:A>G,NM_002764.3:c.123-1774A>G,\N,\N,1/6,Unknown significance,\N,intron_variant,3.309,\N,\N,PRPS1
854481,X:106880810:C>T,NM_002764.3:c.123-1715C>T,\N,\N,1/6,Unknown significance,\N,intron_variant,2.51,0.0014,1KG_SAS_AF,PRPS1
854482,X:106880848:C>A,NM_002764.3:c.123-1677C>A,\N,\N,1/6,Unknown significance,\N,intron_variant,8.966,0.0013,1KG_EAS_AF,PRPS1
854483,X:106880923:A>T,NM_002764.3:c.123-1602A>T,\N,\N,1/6,Unknown significance,\N,intron_variant,2.41,\N,\N,PRPS1
854484,X:106880943:G>A,NM_002764.3:c.123-1582G>A,\N,\N,1/6,Benign,\N,intron_variant,4.82,0.007,1KG_SAS_AF,PRPS1
854485,X:106881009:T>G,NM_002764.3:c.123-1516T>G,\N,\N,1/6,Benign,\N,intron_variant,7.414,0.2273,1KG_AFR_AF,PRPS1
854486,X:106881081:T>C,NM_002764.3:c.123-1444T>C,\N,\N,1/6,Unknown significance,\N,intron_variant,3.004,0.0013,1KG_EAS_AF,PRPS1
854487,X:106881159:A>AAT,NM_002764.3:c.123-1345_123-1344dup,\N,\N,1/6,Unknown significance,\N,intron_variant,0.131,\N,\N,PRPS1
854488,X:106881176:A>T,NM_002764.3:c.123-1349A>T,\N,\N,1/6,Benign,\N,intron_variant,0.33,0.0449,1KG_AFR_AF,PRPS1
854489,X:106881177:TA>T,NM_002764.3:c.123-1347del,\N,\N,1/6,Unknown significance,\N,intron_variant,5.814,\N,\N,PRPS1
854490,X:106881178:A>T,NM_002764.3:c.123-1347A>T,\N,\N,1/6,Benign,\N,intron_variant,0.25,0.1047,1KG_AFR_AF,PRPS1
854491,X:106881180:A>T,NM_002764.3:c.123-1345A>T,\N,\N,1/6,Benign,\N,intron_variant,0.275,0.661,1KG_AFR_AF,PRPS1
854492,X:106881182:T>A,NM_002764.3:c.123-1343T>A,\N,\N,1/6,Benign,\N,intron_variant,6.732,0.2144,1KG_AFR_AF,PRPS1
854493,X:106881262:C>T,NM_002764.3:c.123-1263C>T,\N,\N,1/6,Unknown significance,\N,intron_variant,0.295,0.0013,1KG_EAS_AF,PRPS1
854494,X:106881309:C>T,NM_002764.3:c.123-1216C>T,\N,\N,1/6,Benign,\N,intron_variant,16,0.0179,1KG_AFR_AF,PRPS1
854495,X:106881333:T>C,NM_002764.3:c.123-1192T>C,\N,\N,1/6,Unknown significance,\N,intron_variant,2.677,0.0013,1KG_EUR_AF,PRPS1
854496,X:106881335:AT>A,NM_002764.3:c.123-1178del,\N,\N,1/6,Unknown significance,\N,intron_variant,1.762,\N,\N,PRPS1
854497,X:106881339:T>G,NM_002764.3:c.123-1186T>G,\N,\N,1/6,Unknown significance,\N,intron_variant,2.168,0.0013,1KG_EUR_AF,PRPS1
854498,X:106881348:A>T,NM_002764.3:c.123-1177A>T,\N,\N,1/6,Unknown significance,\N,intron_variant,0.512,0.0026,1KG_EAS_AF,PRPS1
854499,X:106881362:C>T,NM_002764.3:c.123-1163C>T,\N,\N,1/6,Unknown significance,\N,intron_variant,1.783,0.0013,1KG_EAS_AF,PRPS1
854500,X:106881363:G>A,NM_002764.3:c.123-1162G>A,\N,\N,1/6,Unknown significance,\N,intron_variant,0.114,0.0013,1KG_EAS_AF,PRPS1
854501,X:106881392:C>T,NM_002764.3:c.123-1133C>T,\N,\N,1/6,Benign,\N,intron_variant,0.592,0.0289,1KG_AFR_AF,PRPS1
854502,X:106881584:C>T,NM_002764.3:c.123-941C>T,\N,\N,1/6,Unknown significance,\N,intron_variant,1.837,\N,\N,PRPS1
854503,X:106881619:G>A,NM_002764.3:c.123-906G>A,\N,\N,1/6,Unknown significance,\N,intron_variant,0.922,\N,\N,PRPS1
854504,X:106881753:C>G,NM_002764.3:c.123-772C>G,\N,\N,1/6,Unknown significance,\N,intron_variant,0.078,0.001,1KG_AFR_AF,PRPS1
854505,X:106881765:C>T,NM_002764.3:c.123-760C>T,\N,\N,1/6,Unknown significance,\N,intron_variant,1.405,0.0019,1KG_AMR_AF,PRPS1
854506,X:106881805:T>A,NM_002764.3:c.123-720T>A,\N,\N,1/6,Unknown significance,\N,intron_variant,9.587,\N,\N,PRPS1
854507,X:106881815:T>G,NM_002764.3:c.123-710T>G,\N,\N,1/6,Unknown significance,\N,intron_variant,8.071,\N,\N,PRPS1
854508,X:106881866:GT>G,NM_002764.3:c.123-655del,\N,\N,1/6,Unknown significance,\N,intron_variant,\N,\N,\N,PRPS1
854509,X:106881895:C>T,NM_002764.3:c.123-630C>T,\N,\N,1/6,Unknown significance,\N,intron_variant,2.604,0.001,1KG_AFR_AF,PRPS1
854510,X:106881899:C>G,NM_002764.3:c.123-626C>G,\N,\N,1/6,Unknown significance,\N,intron_variant,0.107,0.0014,1KG_SAS_AF,PRPS1
854511,X:106881907:C>T,NM_002764.3:c.123-618C>T,\N,\N,1/6,Unknown significance,\N,intron_variant,0.097,\N,\N,PRPS1
854512,X:106881939:C>G,NM_002764.3:c.123-586C>G,\N,\N,1/6,Unknown significance,\N,intron_variant,1.287,0.001,1KG_AFR_AF,PRPS1
854513,X:106881953:A>ATATTT,NM_002764.3:c.123-550_123-546dup,\N,\N,1/6,Benign,\N,intron_variant,0.058,0.0179,1KG_AFR_AF,PRPS1
854514,X:106881953:A>ATATTTTATTT,NM_002764.3:c.123-555_123-546dup,\N,\N,1/6,Benign,\N,intron_variant,\N,0.006,1KG_AFR_AF,PRPS1
854515,X:106881953:ATATTT>A,NM_002764.3:c.123-550_123-546del,\N,\N,1/6,Unknown significance,\N,intron_variant,5.294,\N,\N,PRPS1
854516,X:106881968:T>C,NM_002764.3:c.123-557T>C,\N,\N,1/6,Unknown significance,\N,intron_variant,1.218,\N,\N,PRPS1
854517,X:106882046:T>C,NM_002764.3:c.123-479T>C,\N,\N,1/6,Unknown significance,\N,intron_variant,1.746,\N,\N,PRPS1
854518,X:106882048:C>T,NM_002764.3:c.123-477C>T,\N,\N,1/6,Benign,\N,intron_variant,0.014,0.0056,1KG_SAS_AF,PRPS1
854519,X:106882077:C>T,NM_002764.3:c.123-448C>T,\N,\N,1/6,Unknown significance,\N,intron_variant,1.232,\N,\N,PRPS1
854520,X:106882108:G>A,NM_002764.3:c.123-417G>A,\N,\N,1/6,Benign,\N,intron_variant,0.196,0.0056,1KG_SAS_AF,PRPS1
854521,X:106882182:C>T,NM_002764.3:c.123-343C>T,\N,\N,1/6,Unknown significance,\N,intron_variant,2.791,0.001,1KG_AFR_AF,PRPS1
854522,X:106882184:C>T,NM_002764.3:c.123-341C>T,\N,\N,1/6,Benign,\N,intron_variant,0.208,0.005,1KG_AFR_AF,PRPS1
854523,X:106882185:G>T,NM_002764.3:c.123-340G>T,\N,\N,1/6,Unknown significance,\N,intron_variant,0.093,0.001,1KG_AFR_AF,PRPS1
854524,X:106882259:C>T,NM_002764.3:c.123-266C>T,\N,\N,1/6,Benign,\N,intron_variant,2.324,0.0131,1KG_EAS_AF,PRPS1
854525,X:106882275:C>T,NM_002764.3:c.123-250C>T,\N,\N,1/6,Benign,\N,intron_variant,0.781,0.006,1KG_AFR_AF,PRPS1
854526,X:106882296:C>T,NM_002764.3:c.123-229C>T,\N,\N,1/6,Unknown significance,\N,intron_variant,1.759,0.0026,1KG_EAS_AF,PRPS1
854527,X:106882326:C>T,NM_002764.3:c.123-199C>T,\N,\N,1/6,Benign,\N,intron_variant,1.21,0.0052,1KG_EAS_AF,PRPS1
854528,X:106882327:G>A,NM_002764.3:c.123-198G>A,\N,\N,1/6,Unknown significance,\N,intron_variant,0.409,\N,\N,PRPS1
854529,X:106882344:T>A,NM_002764.3:c.123-181T>A,\N,\N,1/6,Unknown significance,\N,intron_variant,5.088,\N,\N,PRPS1
854530,X:106882373:A>C,NM_002764.3:c.123-152A>C,\N,\N,1/6,Benign,\N,intron_variant,0.32,0.0056,1KG_SAS_AF,PRPS1
854531,X:106882478:T>C,NM_002764.3:c.123-47T>C,\N,\N,1/6,Unknown significance,\N,intron_variant,2.978,0.000148633,EVS_EA_AF,PRPS1
854532,X:106882478:T>G,NM_002764.3:c.123-47T>G,\N,\N,1/6,Unknown significance,\N,intron_variant,4.668,0.000104227,EXAC_NFE_AF,PRPS1
854533,X:106882489:A>G,NM_002764.3:c.123-36A>G,\N,\N,1/6,Benign,\N,intron_variant,3.784,0.0057,1KG_AMR_AF,PRPS1
854534,X:106882495:T>G,NM_002764.3:c.123-30T>G,\N,\N,1/6,Unknown significance,\N,intron_variant,5.767,0.000297265,EVS_EA_AF,PRPS1
854535,X:106882500:C>T,NM_002764.3:c.123-25C>T,\N,\N,1/6,Unknown significance,\N,intron_variant,3.144,\N,\N,PRPS1
854536,X:106882506:C>CT,NM_002764.3:c.123-16dup,\N,\N,1/6,Unknown significance,\N,intron_variant,5.421,\N,\N,PRPS1
854537,X:106882525:T>C,NM_002764.3:c.123T>C,NP_002755.1:p.Cys41=,2/7,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,12.59,\N,\N,PRPS1
854538,X:106882531:A>C,NM_002764.3:c.129A>C,NP_002755.1:p.Glu43Asp,2/7,\N,Pathogenic,Rosenberg-Chutorian syndrome,missense_variant,16.17,\N,\N,PRPS1
854539,X:106882556:G>C,NM_002764.3:c.154G>C,NP_002755.1:p.Asp52His,2/7,\N,Pathogenic,Phosphoribosylpyrophosphate synthetase superactivity,missense_variant,28.3,\N,\N,PRPS1
854540,X:106882579:T>A,NM_002764.3:c.177T>A,NP_002755.1:p.Gly59=,2/7,\N,Unknown significance,\N,synonymous_variant,11.69,0.000148633,EVS_EA_AF,PRPS1
854541,X:106882585:C>A,NM_002764.3:c.183C>A,NP_002755.1:p.Gly61=,2/7,\N,Unknown significance,\N,synonymous_variant,19.76,0.000150648,EXAC_EAS_AF,PRPS1
854542,X:106882585:C>T,NM_002764.3:c.183C>T,NP_002755.1:p.Gly61=,2/7,\N,Unknown significance,\N,synonymous_variant,18.86,0.000260756,EVS_AA_AF,PRPS1
854543,X:106882586:G>A,NM_002764.3:c.184G>A,NP_002755.1:p.Glu62Lys,2/7,\N,Unknown significance,\N,missense_variant,23.9,0.0000208338,EXAC_NFE_AF,PRPS1
854544,X:106882595:G>A,NM_002764.3:c.193G>A,NP_002755.1:p.Asp65Asn,2/7,\N,Pathogenic,Sensorineural deafness| nonsyndromic,missense_variant,23.4,\N,\N,PRPS1
854545,X:106882645:A>G,NM_002764.3:c.243A>G,NP_002755.1:p.Ser81=,2/7,\N,Unknown significance,\N,synonymous_variant,9.495,0.0013,1KG_EUR_AF,PRPS1
854546,X:106882650:G>T,NM_002764.3:c.248G>T,NP_002755.1:p.Ser83Ile,2/7,\N,Unknown significance,\N,missense_variant,22.7,\N,\N,PRPS1
854547,X:106882651:C>T,NM_002764.3:c.249C>T,NP_002755.1:p.Ser83=,2/7,\N,Unknown significance,\N,synonymous_variant,15.5,0.000117675,EXAC_AFR_AF,PRPS1
854548,X:106882661:G>A,NM_002764.3:c.259G>A,NP_002755.1:p.Ala87Thr,2/7,\N,Pathogenic,Sensorineural deafness| nonsyndromic,missense_variant,24.8,\N,\N,PRPS1
854549,X:106882663:A>C,NM_002764.3:c.261A>C,NP_002755.1:p.Ala87=,2/7,\N,Unknown significance,\N,synonymous_variant,6.526,0.000107262,EXAC_AMR_AF,PRPS1
854550,X:106882672:A>C,NM_002764.3:c.270A>C,NP_002755.1:p.Pro90=,2/7,\N,Unknown significance,\N,synonymous_variant,7.169,0.000117952,EXAC_AFR_AF,PRPS1
854551,X:106882672:A>T,NM_002764.3:c.270A>T,NP_002755.1:p.Pro90=,2/7,\N,Unknown significance,\N,synonymous_variant,5.574,0.0000208446,EXAC_NFE_AF,PRPS1
854552,X:106882690:G>A,NM_002764.3:c.288G>A,NP_002755.1:p.Arg96=,2/7,\N,Unknown significance,\N,synonymous_variant,12.38,0.00376903,EXAC_EAS_AF,PRPS1
854553,X:106882708:G>GA,NM_002764.3:c.306_306+1insA,NP_002755.1:p.Ser103LysfsTer37,\N,\N,Unknown significance,\N,frameshift_variant&splice_region_variant,34,\N,\N,PRPS1
854554,X:106882708:G>GAGCCGGGCGCCAATCTCAGCCAAGCTT,NM_002764.3:c.306_306+1insAGCCGGGCGCCAATCTCAGCCAAGCTT,NP_002755.1:p.Ser103_Leu111dup,\N,\N,Unknown significance,\N,inframe_insertion&splice_region_variant,14.89,\N,\N,PRPS1
854555,X:106882708:G>GAGCCGGGCGCCAATCTCAGCCAAGCTTGTTGCAAATATGCTATCT,NM_002764.3:c.306_306+1insAGCCGGGCGCCAATCTCAGCCAAGCTTGTTGCAAATATGCTATCT,NP_002755.1:p.Ser103_Ser117dup,\N,\N,Unknown significance,\N,inframe_insertion&splice_region_variant,13.28,\N,\N,PRPS1
854556,X:106882709:G>GCCGGGCGCCAATCTCAGCCAAGCTTGTTGCAAATATGC,NM_002764.3:c.306+1_306+2insCCGGGCGCCAATCTCAGCCAAGCTTGTTGCAAATATGC,\N,\N,2/6,Unknown significance,\N,splice_donor_variant,24.2,\N,\N,PRPS1
854557,X:106882725:A>AT,NM_002764.3:c.306+23dup,\N,\N,2/6,Unknown significance,\N,intron_variant,0.426,0.0000210367,EXAC_NFE_AF,PRPS1
854558,X:106882803:G>T,NM_002764.3:c.306+95G>T,\N,\N,2/6,Unknown significance,\N,intron_variant,3.822,\N,\N,PRPS1
854559,X:106882884:C>T,NM_002764.3:c.306+176C>T,\N,\N,2/6,Unknown significance,\N,intron_variant,2.999,\N,\N,PRPS1
854560,X:106882909:G>A,NM_002764.3:c.306+201G>A,\N,\N,2/6,Unknown significance,\N,intron_variant,0.824,\N,\N,PRPS1
854561,X:106882909:G>C,NM_002764.3:c.306+201G>C,\N,\N,2/6,Unknown significance,\N,intron_variant,0.185,\N,\N,PRPS1
854562,X:106882979:C>T,NM_002764.3:c.306+271C>T,\N,\N,2/6,Unknown significance,\N,intron_variant,5.869,0.002,1KG_AFR_AF,PRPS1
854563,X:106883012:C>T,NM_002764.3:c.306+304C>T,\N,\N,2/6,Unknown significance,\N,intron_variant,1.43,\N,\N,PRPS1
854564,X:106883106:C>CATAG,NM_002764.3:c.306+418_306+421dup,\N,\N,2/6,Benign,\N,intron_variant,3.035,0.0299,1KG_AFR_AF,PRPS1
854565,X:106883106:CATAG>C,NM_002764.3:c.306+418_306+421del,\N,\N,2/6,Unknown significance,\N,intron_variant,\N,0.0026,1KG_EAS_AF,PRPS1
854566,X:106883127:A>G,NM_002764.3:c.306+419A>G,\N,\N,2/6,Unknown significance,\N,intron_variant,1.747,\N,\N,PRPS1
854567,X:106883183:A>G,NM_002764.3:c.306+475A>G,\N,\N,2/6,Benign,\N,intron_variant,8.231,0.0289,1KG_AFR_AF,PRPS1
854568,X:106883216:C>A,NM_002764.3:c.306+508C>A,\N,\N,2/6,Unknown significance,\N,intron_variant,3.137,0.0013,1KG_EUR_AF,PRPS1
854569,X:106883236:C>T,NM_002764.3:c.306+528C>T,\N,\N,2/6,Benign,\N,intron_variant,1.081,0.0223,1KG_EAS_AF,PRPS1
854570,X:106883237:G>A,NM_002764.3:c.306+529G>A,\N,\N,2/6,Benign,\N,intron_variant,1.264,0.0499,1KG_AFR_AF,PRPS1
854571,X:106883252:T>G,NM_002764.3:c.306+544T>G,\N,\N,2/6,Unknown significance,\N,intron_variant,10.26,\N,\N,PRPS1
854572,X:106883291:G>A,NM_002764.3:c.306+583G>A,\N,\N,2/6,Benign,\N,intron_variant,0.206,0.0189,1KG_AFR_AF,PRPS1
854573,X:106883306:C>T,NM_002764.3:c.306+598C>T,\N,\N,2/6,Benign,\N,intron_variant,0.245,0.0269,1KG_AFR_AF,PRPS1
854574,X:106883339:C>T,NM_002764.3:c.306+631C>T,\N,\N,2/6,Unknown significance,\N,intron_variant,1.742,0.0014,1KG_SAS_AF,PRPS1
854575,X:106883386:G>A,NM_002764.3:c.306+678G>A,\N,\N,2/6,Unknown significance,\N,intron_variant,0.219,0.001,1KG_AFR_AF,PRPS1
854576,X:106883389:G>A,NM_002764.3:c.306+681G>A,\N,\N,2/6,Unknown significance,\N,intron_variant,1.79,0.001,1KG_AFR_AF,PRPS1
854577,X:106883404:T>G,NM_002764.3:c.306+696T>G,\N,\N,2/6,Unknown significance,\N,intron_variant,2.743,0.0013,1KG_EUR_AF,PRPS1
854578,X:106883432:C>T,NM_002764.3:c.307-700C>T,\N,\N,2/6,Unknown significance,\N,intron_variant,2.051,0.0039,1KG_EUR_AF,PRPS1
854579,X:106883433:G>A,NM_002764.3:c.307-699G>A,\N,\N,2/6,Unknown significance,\N,intron_variant,1.157,0.0013,1KG_EAS_AF,PRPS1
854580,X:106883433:G>C,NM_002764.3:c.307-699G>C,\N,\N,2/6,Unknown significance,\N,intron_variant,0.189,\N,\N,PRPS1
854581,X:106883438:G>A,NM_002764.3:c.307-694G>A,\N,\N,2/6,Unknown significance,\N,intron_variant,1.307,0.0026,1KG_EUR_AF,PRPS1
854582,X:106883442:C>T,NM_002764.3:c.307-690C>T,\N,\N,2/6,Unknown significance,\N,intron_variant,0.241,0.0019,1KG_AMR_AF,PRPS1
854583,X:106883454:C>A,NM_002764.3:c.307-678C>A,\N,\N,2/6,Unknown significance,\N,intron_variant,4.373,\N,\N,PRPS1
854584,X:106883457:A>G,NM_002764.3:c.307-675A>G,\N,\N,2/6,Unknown significance,\N,intron_variant,2.67,\N,\N,PRPS1
854585,X:106883487:G>A,NM_002764.3:c.307-645G>A,\N,\N,2/6,Unknown significance,\N,intron_variant,0.243,\N,\N,PRPS1
854586,X:106883504:A>G,NM_002764.3:c.307-628A>G,\N,\N,2/6,Unknown significance,\N,intron_variant,0.578,\N,\N,PRPS1
854587,X:106883507:G>A,NM_002764.3:c.307-625G>A,\N,\N,2/6,Unknown significance,\N,intron_variant,3.846,0.001,1KG_AFR_AF,PRPS1
854588,X:106883574:C>CA,NM_002764.3:c.307-537dup,\N,\N,2/6,Unknown significance,\N,intron_variant,4.578,\N,\N,PRPS1
854589,X:106883688:G>A,NM_002764.3:c.307-444G>A,\N,\N,2/6,Unknown significance,\N,intron_variant,2.141,\N,\N,PRPS1
854590,X:106883713:C>G,NM_002764.3:c.307-419C>G,\N,\N,2/6,Unknown significance,\N,intron_variant,2.162,\N,\N,PRPS1
854591,X:106883738:C>G,NM_002764.3:c.307-394C>G,\N,\N,2/6,Unknown significance,\N,intron_variant,2.686,0.0042,1KG_SAS_AF,PRPS1
854592,X:106883782:G>A,NM_002764.3:c.307-350G>A,\N,\N,2/6,Unknown significance,\N,intron_variant,3.127,\N,\N,PRPS1
854593,X:106883802:A>G,NM_002764.3:c.307-330A>G,\N,\N,2/6,Unknown significance,\N,intron_variant,9.295,0.0019,1KG_AMR_AF,PRPS1
854594,X:106883803:A>C,NM_002764.3:c.307-329A>C,\N,\N,2/6,Unknown significance,\N,intron_variant,8.998,0.0026,1KG_EUR_AF,PRPS1
854595,X:106883860:A>G,NM_002764.3:c.307-272A>G,\N,\N,2/6,Unknown significance,\N,intron_variant,9.151,0.0013,1KG_EUR_AF,PRPS1
854596,X:106883962:G>T,NM_002764.3:c.307-170G>T,\N,\N,2/6,Benign,\N,intron_variant,0.419,0.084,1KG_AMR_AF,PRPS1
854597,X:106883997:TG>T,NM_002764.3:c.307-134del,\N,\N,2/6,Unknown significance,\N,intron_variant,\N,\N,\N,PRPS1
854598,X:106884025:A>G,NM_002764.3:c.307-107A>G,\N,\N,2/6,Unknown significance,\N,intron_variant,3.401,0.0026,1KG_EUR_AF,PRPS1
854599,X:106884026:T>C,NM_002764.3:c.307-106T>C,\N,\N,2/6,Unknown significance,\N,intron_variant,1.866,0.0013,1KG_EUR_AF,PRPS1
854600,X:106884046:G>A,NM_002764.3:c.307-86G>A,\N,\N,2/6,Unknown significance,\N,intron_variant,2.637,0.001,1KG_AFR_AF,PRPS1
854601,X:106884057:A>G,NM_002764.3:c.307-75A>G,\N,\N,2/6,Benign,\N,intron_variant,5.619,0.005,1KG_AFR_AF,PRPS1
854602,X:106884081:T>A,NM_002764.3:c.307-51T>A,\N,\N,2/6,Unknown significance,\N,intron_variant,6.988,0.000260756,EVS_AA_AF,PRPS1
854603,X:106884094:CT>C,NM_002764.3:c.307-33del,\N,\N,2/6,Unknown significance,\N,intron_variant,6.465,0.0000208938,EXAC_NFE_AF,PRPS1
854604,X:106884095:T>C,NM_002764.3:c.307-37T>C,\N,\N,2/6,Unknown significance,\N,intron_variant,5.446,\N,\N,PRPS1
854605,X:106884101:G>C,NM_002764.3:c.307-31G>C,\N,\N,2/6,Unknown significance,\N,intron_variant,0.065,0.00271452,EXAC_EAS_AF,PRPS1
854606,X:106884103:T>C,NM_002764.3:c.307-29T>C,\N,\N,2/6,Unknown significance,\N,intron_variant,5.18,0.000107331,EXAC_AMR_AF,PRPS1
854607,X:106884105:T>C,NM_002764.3:c.307-27T>C,\N,\N,2/6,Unknown significance,\N,intron_variant,4.304,0.000148633,EVS_EA_AF,PRPS1
854608,X:106884106:T>G,NM_002764.3:c.307-26T>G,\N,\N,2/6,Unknown significance,\N,intron_variant,6.86,\N,\N,PRPS1
854609,X:106884107:C>T,NM_002764.3:c.307-25C>T,\N,\N,2/6,Unknown significance,\N,intron_variant,3.093,\N,\N,PRPS1
854610,X:106884112:C>T,NM_002764.3:c.307-20C>T,\N,\N,2/6,Unknown significance,\N,intron_variant,0.239,\N,\N,PRPS1
854611,X:106884124:C>T,NM_002764.3:c.307-8C>T,\N,\N,2/6,Unknown significance,\N,splice_region_variant&intron_variant,12.4,0.000150648,EXAC_EAS_AF,PRPS1
854612,X:106884126:AT>A,NM_002764.3:c.307-3del,\N,\N,2/6,Unknown significance,\N,splice_region_variant&intron_variant,12.18,0.0000208581,EXAC_NFE_AF,PRPS1
854613,X:106884140:G>A,NM_002764.3:c.315G>A,NP_002755.1:p.Ala105=,3/7,\N,Unknown significance,\N,synonymous_variant,13.42,0.0000208429,EXAC_NFE_AF,PRPS1
854614,X:106884160:T>C,NM_002764.3:c.335T>C,NP_002755.1:p.Val112Ala,3/7,\N,Unknown significance,\N,missense_variant,26,\N,\N,PRPS1
854615,X:106884161:T>C,NM_002764.3:c.336T>C,NP_002755.1:p.Val112=,3/7,\N,Benign,Arts syndrome; Arts Syndrome,synonymous_variant,8.694,\N,\N,PRPS1
854616,X:106884162:G>T,NM_002764.3:c.337G>T,NP_002755.1:p.Ala113Ser,3/7,\N,Pathogenic,Hearing loss| non-syndromic,missense_variant,29.2,\N,\N,PRPS1
854617,X:106884166:A>G,NM_002764.3:c.341A>G,NP_002755.1:p.Asn114Ser,3/7,\N,Pathogenic,Phosphoribosylpyrophosphate synthetase superactivity,missense_variant,23.3,\N,\N,PRPS1
854618,X:106884168:A>G,NM_002764.3:c.343A>G,NP_002755.1:p.Met115Val,3/7,\N,Pathogenic,Hearing loss| X-linked & peripheral neuropathy,missense_variant,23.1,\N,\N,PRPS1
854619,X:106884169:T>C,NM_002764.3:c.344T>C,NP_002755.1:p.Met115Thr,3/7,\N,Pathogenic,Charcot-Marie-Tooth disease 5,missense_variant,25.3,\N,\N,PRPS1
854620,X:106884173:A>G,NM_002764.3:c.348A>G,NP_002755.1:p.Leu116=,3/7,\N,Unknown significance,\N,synonymous_variant,10.77,0.00032175,EXAC_AMR_AF,PRPS1
854621,X:106884187:C>G,NM_002764.3:c.362C>G,NP_002755.1:p.Ala121Gly,3/7,\N,Pathogenic,Charcot-Marie-Tooth disease 5,missense_variant,24.3,\N,\N,PRPS1
854622,X:106884210:C>A,NM_002764.3:c.385C>A,NP_002755.1:p.Leu129Ile,3/7,\N,Pathogenic,Phosphoribosylpyrophosphate synthetase superactivity,missense_variant,29.2,\N,\N,PRPS1
854623,X:106884223:A>C,NM_002764.3:c.398A>C,NP_002755.1:p.Gln133Pro,3/7,\N,Pathogenic,Phosphoribosylpyrophosphate synthetase deficiency,missense_variant,27.3,\N,\N,PRPS1
854624,X:106884238:T>A,NM_002764.3:c.405+8T>A,\N,\N,3/6,Unknown significance,\N,splice_region_variant&intron_variant,13.01,0.0000990982,EXAC_SAS_AF,PRPS1
854625,X:106884253:G>T,NM_002764.3:c.405+23G>T,\N,\N,3/6,Unknown significance,\N,intron_variant,9.965,0.0000210686,EXAC_NFE_AF,PRPS1
854626,X:106884285:A>G,NM_002764.3:c.405+55A>G,\N,\N,3/6,Unknown significance,\N,intron_variant,4.749,0.00011733,EXAC_AMR_AF,PRPS1
854627,X:106884319:C>T,NM_002764.3:c.405+89C>T,\N,\N,3/6,Unknown significance,\N,intron_variant,5.907,0.0000307711,EXAC_NFE_AF,PRPS1
854628,X:106884332:A>T,NM_002764.3:c.405+102A>T,\N,\N,3/6,Unknown significance,\N,intron_variant,3.828,0.0000375926,EXAC_NFE_AF,PRPS1
854629,X:106884334:A>G,NM_002764.3:c.405+104A>G,\N,\N,3/6,Unknown significance,\N,intron_variant,0.783,0.0014,1KG_SAS_AF,PRPS1
854630,X:106884342:G>T,NM_002764.3:c.405+112G>T,\N,\N,3/6,Unknown significance,\N,intron_variant,1.915,0.00100234,EXAC_EAS_AF,PRPS1
854631,X:106884346:T>C,NM_002764.3:c.405+116T>C,\N,\N,3/6,Unknown significance,\N,intron_variant,3.928,0.00036483,EXAC_EAS_AF,PRPS1
854632,X:106884347:C>T,NM_002764.3:c.405+117C>T,\N,\N,3/6,Unknown significance,\N,intron_variant,1.014,0.000197044,EXAC_AFR_AF,PRPS1
854633,X:106884352:A>ACATT,NM_002764.3:c.405+123_405+126dup,\N,\N,3/6,Unknown significance,\N,intron_variant,\N,\N,\N,PRPS1
854634,X:106884381:C>A,NM_002764.3:c.405+151C>A,\N,\N,3/6,Unknown significance,\N,intron_variant,4.671,0.000397141,EXAC_SAS_AF,PRPS1
854635,X:106884381:C>T,NM_002764.3:c.405+151C>T,\N,\N,3/6,Unknown significance,\N,intron_variant,3.813,0.0013,1KG_EUR_AF,PRPS1
854636,X:106884382:T>G,NM_002764.3:c.405+152T>G,\N,\N,3/6,Unknown significance,\N,intron_variant,6.538,0.0000923361,EXAC_NFE_AF,PRPS1
854637,X:106884461:C>A,NM_002764.3:c.405+231C>A,\N,\N,3/6,Unknown significance,\N,intron_variant,3.529,\N,\N,PRPS1
854638,X:106884520:CT>C,NM_002764.3:c.405+295del,\N,\N,3/6,Benign,\N,intron_variant,5.279,0.0056,1KG_SAS_AF,PRPS1
854639,X:106884526:C>T,NM_002764.3:c.405+296C>T,\N,\N,3/6,Unknown significance,\N,intron_variant,5.761,0.001,1KG_AFR_AF,PRPS1
854640,X:106884526:C>G,NM_002764.3:c.405+296C>G,\N,\N,3/6,Benign,\N,intron_variant,4.469,0.0056,1KG_SAS_AF,PRPS1
854641,X:106884535:G>A,NM_002764.3:c.405+305G>A,\N,\N,3/6,Benign,\N,intron_variant,5.19,0.1113,1KG_EAS_AF,PRPS1
854642,X:106884540:T>C,NM_002764.3:c.405+310T>C,\N,\N,3/6,Unknown significance,\N,intron_variant,0.928,0.0013,1KG_EAS_AF,PRPS1
854643,X:106884542:A>C,NM_002764.3:c.405+312A>C,\N,\N,3/6,Unknown significance,\N,intron_variant,0.723,\N,\N,PRPS1
854644,X:106884561:T>C,NM_002764.3:c.405+331T>C,\N,\N,3/6,Unknown significance,\N,intron_variant,5.386,0.001,1KG_AFR_AF,PRPS1
854645,X:106884618:C>G,NM_002764.3:c.405+388C>G,\N,\N,3/6,Unknown significance,\N,intron_variant,1.439,0.0013,1KG_EUR_AF,PRPS1
854646,X:106884649:G>A,NM_002764.3:c.405+419G>A,\N,\N,3/6,Unknown significance,\N,intron_variant,0.12,0.0013,1KG_EUR_AF,PRPS1
854647,X:106884676:C>T,NM_002764.3:c.405+446C>T,\N,\N,3/6,Unknown significance,\N,intron_variant,2.047,\N,\N,PRPS1
854648,X:106884740:C>A,NM_002764.3:c.405+510C>A,\N,\N,3/6,Unknown significance,\N,intron_variant,1.512,\N,\N,PRPS1
854649,X:106884741:A>AG,NM_002764.3:c.405+513dup,\N,\N,3/6,Unknown significance,\N,intron_variant,\N,\N,\N,PRPS1
854650,X:106884785:A>AC,NM_002764.3:c.405+557dup,\N,\N,3/6,Unknown significance,\N,intron_variant,\N,\N,\N,PRPS1
854651,X:106884807:C>T,NM_002764.3:c.405+577C>T,\N,\N,3/6,Benign,\N,intron_variant,1.153,0.0056,1KG_SAS_AF,PRPS1
854652,X:106884843:C>T,NM_002764.3:c.405+613C>T,\N,\N,3/6,Unknown significance,\N,intron_variant,2.803,\N,\N,PRPS1
854653,X:106884868:A>G,NM_002764.3:c.405+638A>G,\N,\N,3/6,Unknown significance,\N,intron_variant,0.776,0.0019,1KG_AMR_AF,PRPS1
854654,X:106884878:G>A,NM_002764.3:c.405+648G>A,\N,\N,3/6,Benign,\N,intron_variant,0.655,0.0287,1KG_EUR_AF,PRPS1
854655,X:106884921:A>G,NM_002764.3:c.406-675A>G,\N,\N,3/6,Benign,\N,intron_variant,6.686,0.0658,1KG_AFR_AF,PRPS1
854656,X:106884952:G>C,NM_002764.3:c.406-644G>C,\N,\N,3/6,Unknown significance,\N,intron_variant,0.891,\N,\N,PRPS1
854657,X:106885048:A>AG,NM_002764.3:c.406-545dup,\N,\N,3/6,Unknown significance,\N,intron_variant,\N,\N,\N,PRPS1
854658,X:106885054:T>C,NM_002764.3:c.406-542T>C,\N,\N,3/6,Unknown significance,\N,intron_variant,3.131,0.0013,1KG_EAS_AF,PRPS1
854659,X:106885124:C>T,NM_002764.3:c.406-472C>T,\N,\N,3/6,Benign,\N,intron_variant,2.769,0.0199,1KG_AFR_AF,PRPS1
854660,X:106885265:A>G,NM_002764.3:c.406-331A>G,\N,\N,3/6,Unknown significance,\N,intron_variant,10.49,\N,\N,PRPS1
854661,X:106885420:C>T,NM_002764.3:c.406-176C>T,\N,\N,3/6,Unknown significance,\N,intron_variant,3.637,\N,\N,PRPS1
854662,X:106885428:T>C,NM_002764.3:c.406-168T>C,\N,\N,3/6,Unknown significance,\N,intron_variant,2.876,\N,\N,PRPS1
854663,X:106885491:A>G,NM_002764.3:c.406-105A>G,\N,\N,3/6,Unknown significance,\N,intron_variant,10.53,0.0013,1KG_EAS_AF,PRPS1
854664,X:106885543:A>G,NM_002764.3:c.406-53A>G,\N,\N,3/6,Unknown significance,\N,intron_variant,3.234,0.00277778,OTO_ES_AF,PRPS1
854665,X:106885550:G>A,NM_002764.3:c.406-46G>A,\N,\N,3/6,Unknown significance,\N,intron_variant,2.512,0.000260756,EVS_AA_AF,PRPS1
854666,X:106885559:G>A,NM_002764.3:c.406-37G>A,\N,\N,3/6,Unknown significance,\N,intron_variant,0.165,0.000260756,EVS_AA_AF,PRPS1
854667,X:106885568:G>A,NM_002764.3:c.406-28G>A,\N,\N,3/6,Unknown significance,\N,intron_variant,5.663,\N,\N,PRPS1
854668,X:106885576:G>C,NM_002764.3:c.406-20G>C,\N,\N,3/6,Unknown significance,\N,intron_variant,4.654,0.000107308,EXAC_AMR_AF,PRPS1
854669,X:106885610:C>T,NM_002764.3:c.420C>T,NP_002755.1:p.Ile140=,4/7,\N,Unknown significance,\N,synonymous_variant,16.47,0.000148633,EVS_EA_AF,PRPS1
854670,X:106885614:G>C,NM_002764.3:c.424G>C,NP_002755.1:p.Val142Leu,4/7,\N,Pathogenic,Phosphoribosylpyrophosphate synthetase superactivity & recurrent infections,missense_variant,24.3,\N,\N,PRPS1
854671,X:106885623:T>C,NM_002764.3:c.433T>C,NP_002755.1:p.Leu145=,4/7,\N,Unknown significance,\N,synonymous_variant,4.622,0.000301341,EXAC_EAS_AF,PRPS1
854672,X:106885634:G>A,NM_002764.3:c.444G>A,NP_002755.1:p.Glu148=,4/7,\N,Benign,\N,synonymous_variant,11.66,0.005,OTO_JP_AF,PRPS1
854673,X:106885637:G>A,NM_002764.3:c.447G>A,NP_002755.1:p.Pro149=,4/7,\N,Benign,\N,synonymous_variant,14.57,0.0288,1KG_EAS_AF,PRPS1
854674,X:106885637:G>T,NM_002764.3:c.447G>T,NP_002755.1:p.Pro149=,4/7,\N,Unknown significance,\N,synonymous_variant,12.87,0.0000987752,EXAC_SAS_AF,PRPS1
854675,X:106885644:C>T,NM_002764.3:c.454C>T,NP_002755.1:p.Leu152=,4/7,\N,Unknown significance,\N,synonymous_variant,15.75,\N,\N,PRPS1
854676,X:106885645:T>C,NM_002764.3:c.455T>C,NP_002755.1:p.Leu152Pro,4/7,\N,Pathogenic,Phosphoribosylpyrophosphate synthetase deficiency,missense_variant,29.2,\N,\N,PRPS1
854677,X:106885646:A>G,NM_002764.3:c.456A>G,NP_002755.1:p.Leu152=,4/7,\N,Benign,\N,synonymous_variant,8.853,0.0319,1KG_AFR_AF,PRPS1
854678,X:106885646:A>C,NM_002764.3:c.456A>C,NP_002755.1:p.Leu152=,4/7,\N,Unknown significance,\N,synonymous_variant,1.674,\N,\N,PRPS1
854679,X:106885667:C>T,NM_002764.3:c.477C>T,NP_002755.1:p.Ile159=,4/7,\N,Benign,\N,synonymous_variant,16.39,0.03,OTO_TR_AF,PRPS1
854680,X:106885682:C>T,NM_002764.3:c.492C>T,NP_002755.1:p.Asn164=,4/7,\N,Unknown significance,\N,synonymous_variant,12.62,0.000150648,EXAC_EAS_AF,PRPS1
854681,X:106885689:A>G,NM_002764.3:c.499A>G,NP_002755.1:p.Ile167Val,4/7,\N,Unknown significance,\N,missense_variant,12.45,0.000117426,EXAC_AFR_AF,PRPS1
854682,X:106885701:G>T,NM_002764.3:c.511G>T,NP_002755.1:p.Asp171Tyr,4/7,\N,Unknown significance,\N,missense_variant,33,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,PRPS1
854683,X:106885727:T>C,NM_002764.3:c.530+7T>C,\N,\N,4/6,Unknown significance,\N,splice_region_variant&intron_variant,8.597,0.0000987752,EXAC_SAS_AF,PRPS1
854684,X:106885735:A>T,NM_002764.3:c.530+15A>T,\N,\N,4/6,Unknown significance,\N,intron_variant,14.47,0.000148633,EVS_EA_AF,PRPS1
854685,X:106885738:A>G,NM_002764.3:c.530+18A>G,\N,\N,4/6,Unknown significance,\N,intron_variant,14.67,0.000260756,EVS_AA_AF,PRPS1
854686,X:106885744:C>T,NM_002764.3:c.530+24C>T,\N,\N,4/6,Unknown significance,\N,intron_variant,14.67,0.0013,1KG_EAS_AF,PRPS1
854687,X:106885747:A>G,NM_002764.3:c.530+27A>G,\N,\N,4/6,Unknown significance,\N,intron_variant,15.4,0.0000416753,EXAC_NFE_AF,PRPS1
854688,X:106885759:A>T,NM_002764.3:c.530+39A>T,\N,\N,4/6,Unknown significance,\N,intron_variant,13.26,0.0000208398,EXAC_NFE_AF,PRPS1
854689,X:106885767:C>T,NM_002764.3:c.530+47C>T,\N,\N,4/6,Unknown significance,\N,intron_variant,14.26,0.0000988338,EXAC_SAS_AF,PRPS1
854690,X:106885833:A>G,NM_002764.3:c.530+113A>G,\N,\N,4/6,Unknown significance,\N,intron_variant,4.233,0.0038,1KG_AMR_AF,PRPS1
854691,X:106885870:C>G,NM_002764.3:c.530+150C>G,\N,\N,4/6,Unknown significance,\N,intron_variant,1.467,\N,\N,PRPS1
854692,X:106885903:C>T,NM_002764.3:c.530+183C>T,\N,\N,4/6,Unknown significance,\N,intron_variant,2.278,0.0013,1KG_EAS_AF,PRPS1
854693,X:106885904:G>A,NM_002764.3:c.530+184G>A,\N,\N,4/6,Unknown significance,\N,intron_variant,1.133,\N,\N,PRPS1
854694,X:106886004:C>A,NM_002764.3:c.530+284C>A,\N,\N,4/6,Unknown significance,\N,intron_variant,6.008,0.0013,1KG_EUR_AF,PRPS1
854695,X:106886080:C>T,NM_002764.3:c.530+360C>T,\N,\N,4/6,Unknown significance,\N,intron_variant,1.842,0.003,1KG_AFR_AF,PRPS1
854696,X:106886150:G>C,NM_002764.3:c.530+430G>C,\N,\N,4/6,Unknown significance,\N,intron_variant,1.889,\N,\N,PRPS1
854697,X:106886271:C>T,NM_002764.3:c.530+551C>T,\N,\N,4/6,Unknown significance,\N,intron_variant,17.3,0.0026,1KG_EUR_AF,PRPS1
854698,X:106886294:C>T,NM_002764.3:c.530+574C>T,\N,\N,4/6,Unknown significance,\N,intron_variant,15.29,0.0019,1KG_AMR_AF,PRPS1
854699,X:106886295:G>A,NM_002764.3:c.530+575G>A,\N,\N,4/6,Unknown significance,\N,intron_variant,15.19,0.001,1KG_AFR_AF,PRPS1
854700,X:106886337:G>T,NM_002764.3:c.530+617G>T,\N,\N,4/6,Unknown significance,\N,intron_variant,11.81,\N,\N,PRPS1
854701,X:106886441:C>A,NM_002764.3:c.530+721C>A,\N,\N,4/6,Unknown significance,\N,intron_variant,17.52,\N,\N,PRPS1
854702,X:106886536:T>C,NM_002764.3:c.530+816T>C,\N,\N,4/6,Unknown significance,\N,intron_variant,3.955,0.001,1KG_AFR_AF,PRPS1
854703,X:106886575:T>TC,NM_002764.3:c.530+861dup,\N,\N,4/6,Unknown significance,\N,intron_variant,\N,\N,\N,PRPS1
854704,X:106886610:G>A,NM_002764.3:c.530+890G>A,\N,\N,4/6,Unknown significance,\N,intron_variant,2.557,\N,\N,PRPS1
854705,X:106886627:C>A,NM_002764.3:c.530+907C>A,\N,\N,4/6,Unknown significance,\N,intron_variant,8.697,0.0042,1KG_SAS_AF,PRPS1
854706,X:106886680:C>T,NM_002764.3:c.530+960C>T,\N,\N,4/6,Unknown significance,\N,intron_variant,4.533,\N,\N,PRPS1
854707,X:106886763:A>T,NM_002764.3:c.530+1043A>T,\N,\N,4/6,Unknown significance,\N,intron_variant,3.953,0.0013,1KG_EUR_AF,PRPS1
854708,X:106886798:G>A,NM_002764.3:c.530+1078G>A,\N,\N,4/6,Unknown significance,\N,intron_variant,3.026,0.001,1KG_AFR_AF,PRPS1
854709,X:106886886:C>CT,NM_002764.3:c.530+1171dup,\N,\N,4/6,Unknown significance,\N,intron_variant,\N,0.0019,1KG_AMR_AF,PRPS1
854710,X:106887008:G>A,NM_002764.3:c.530+1288G>A,\N,\N,4/6,Benign,\N,intron_variant,1.86,0.015,1KG_AFR_AF,PRPS1
854711,X:106887034:C>CT,NM_002764.3:c.530+1316dup,\N,\N,4/6,Benign,\N,intron_variant,\N,0.0056,1KG_SAS_AF,PRPS1
854712,X:106887038:T>C,NM_002764.3:c.530+1318T>C,\N,\N,4/6,Unknown significance,\N,intron_variant,0.495,0.0039,1KG_EUR_AF,PRPS1
854713,X:106887051:A>T,NM_002764.3:c.530+1331A>T,\N,\N,4/6,Unknown significance,\N,intron_variant,0.581,0.0014,1KG_SAS_AF,PRPS1
854714,X:106887070:G>A,NM_002764.3:c.531-1337G>A,\N,\N,4/6,Benign,\N,intron_variant,3.478,0.0249,1KG_AFR_AF,PRPS1
854715,X:106887157:C>G,NM_002764.3:c.531-1250C>G,\N,\N,4/6,Benign,\N,intron_variant,4.514,0.005,1KG_AFR_AF,PRPS1
854716,X:106887235:T>TC,NM_002764.3:c.531-1168dup,\N,\N,4/6,Unknown significance,\N,intron_variant,\N,\N,\N,PRPS1
854717,X:106887236:C>T,NM_002764.3:c.531-1171C>T,\N,\N,4/6,Unknown significance,\N,intron_variant,4.615,0.0014,1KG_SAS_AF,PRPS1
854718,X:106887271:G>A,NM_002764.3:c.531-1136G>A,\N,\N,4/6,Unknown significance,\N,intron_variant,6.015,0.001,1KG_AFR_AF,PRPS1
854719,X:106887278:C>T,NM_002764.3:c.531-1129C>T,\N,\N,4/6,Unknown significance,\N,intron_variant,1.321,0.0013,1KG_EUR_AF,PRPS1
854720,X:106887279:G>A,NM_002764.3:c.531-1128G>A,\N,\N,4/6,Unknown significance,\N,intron_variant,1.871,0.0019,1KG_AMR_AF,PRPS1
854721,X:106887294:G>A,NM_002764.3:c.531-1113G>A,\N,\N,4/6,Unknown significance,\N,intron_variant,3.95,\N,\N,PRPS1
854722,X:106887308:G>T,NM_002764.3:c.531-1099G>T,\N,\N,4/6,Unknown significance,\N,intron_variant,12.12,0.001,1KG_AFR_AF,PRPS1
854723,X:106887359:T>C,NM_002764.3:c.531-1048T>C,\N,\N,4/6,Benign,\N,intron_variant,3.503,0.0484,1KG_EAS_AF,PRPS1
854724,X:106887365:A>C,NM_002764.3:c.531-1042A>C,\N,\N,4/6,Unknown significance,\N,intron_variant,1.095,\N,\N,PRPS1
854725,X:106887384:TCCTA>T,NM_002764.3:c.531-1019_531-1016del,\N,\N,4/6,Unknown significance,\N,intron_variant,\N,0.004,1KG_AFR_AF,PRPS1
854726,X:106887444:T>C,NM_002764.3:c.531-963T>C,\N,\N,4/6,Unknown significance,\N,intron_variant,3.401,0.001,1KG_AFR_AF,PRPS1
854727,X:106887463:G>A,NM_002764.3:c.531-944G>A,\N,\N,4/6,Unknown significance,\N,intron_variant,1.81,\N,\N,PRPS1
854728,X:106887540:T>G,NM_002764.3:c.531-867T>G,\N,\N,4/6,Unknown significance,\N,intron_variant,15.79,0.0014,1KG_SAS_AF,PRPS1
854729,X:106887604:G>C,NM_002764.3:c.531-803G>C,\N,\N,4/6,Unknown significance,\N,intron_variant,0.203,0.003,1KG_AFR_AF,PRPS1
854730,X:106887749:C>T,NM_002764.3:c.531-658C>T,\N,\N,4/6,Unknown significance,\N,intron_variant,4.767,0.0013,1KG_EUR_AF,PRPS1
854731,X:106887754:C>T,NM_002764.3:c.531-653C>T,\N,\N,4/6,Unknown significance,\N,intron_variant,3.621,0.0014,1KG_SAS_AF,PRPS1
854732,X:106887794:C>T,NM_002764.3:c.531-613C>T,\N,\N,4/6,Unknown significance,\N,intron_variant,2.966,\N,\N,PRPS1
854733,X:106887795:G>A,NM_002764.3:c.531-612G>A,\N,\N,4/6,Unknown significance,\N,intron_variant,2.35,0.0014,1KG_SAS_AF,PRPS1
854734,X:106887808:C>A,NM_002764.3:c.531-599C>A,\N,\N,4/6,Unknown significance,\N,intron_variant,4.703,0.0014,1KG_SAS_AF,PRPS1
854735,X:106887835:T>C,NM_002764.3:c.531-572T>C,\N,\N,4/6,Unknown significance,\N,intron_variant,4.225,\N,\N,PRPS1
854736,X:106887939:G>C,NM_002764.3:c.531-468G>C,\N,\N,4/6,Unknown significance,\N,intron_variant,1.434,0.0019,1KG_AMR_AF,PRPS1
854737,X:106887950:G>A,NM_002764.3:c.531-457G>A,\N,\N,4/6,Unknown significance,\N,intron_variant,2.949,0.0013,1KG_EAS_AF,PRPS1
854738,X:106887950:G>T,NM_002764.3:c.531-457G>T,\N,\N,4/6,Unknown significance,\N,intron_variant,0.857,\N,\N,PRPS1
854739,X:106887979:G>A,NM_002764.3:c.531-428G>A,\N,\N,4/6,Unknown significance,\N,intron_variant,7.376,0.0014,1KG_SAS_AF,PRPS1
854740,X:106888034:C>T,NM_002764.3:c.531-373C>T,\N,\N,4/6,Unknown significance,\N,intron_variant,1.455,0.001,1KG_AFR_AF,PRPS1
854741,X:106888058:G>A,NM_002764.3:c.531-349G>A,\N,\N,4/6,Unknown significance,\N,intron_variant,1.065,0.002,1KG_AFR_AF,PRPS1
854742,X:106888107:C>T,NM_002764.3:c.531-300C>T,\N,\N,4/6,Unknown significance,\N,intron_variant,0.319,0.001,1KG_AFR_AF,PRPS1
854743,X:106888145:C>T,NM_002764.3:c.531-262C>T,\N,\N,4/6,Benign,\N,intron_variant,0.022,0.0189,1KG_AFR_AF,PRPS1
854744,X:106888223:T>A,NM_002764.3:c.531-184T>A,\N,\N,4/6,Unknown significance,\N,intron_variant,4.118,0.0013,1KG_EUR_AF,PRPS1
854745,X:106888261:G>T,NM_002764.3:c.531-146G>T,\N,\N,4/6,Unknown significance,\N,intron_variant,0.054,0.001,1KG_AFR_AF,PRPS1
854746,X:106888266:T>C,NM_002764.3:c.531-141T>C,\N,\N,4/6,Unknown significance,\N,intron_variant,0.724,\N,\N,PRPS1
854747,X:106888266:T>G,NM_002764.3:c.531-141T>G,\N,\N,4/6,Unknown significance,\N,intron_variant,1.409,0.002,1KG_AFR_AF,PRPS1
854748,X:106888279:T>C,NM_002764.3:c.531-128T>C,\N,\N,4/6,Unknown significance,\N,intron_variant,0.935,0.001,1KG_AFR_AF,PRPS1
854749,X:106888287:G>A,NM_002764.3:c.531-120G>A,\N,\N,4/6,Unknown significance,\N,intron_variant,0.166,0.0013,1KG_EAS_AF,PRPS1
854750,X:106888308:T>C,NM_002764.3:c.531-99T>C,\N,\N,4/6,Unknown significance,\N,intron_variant,0.674,\N,\N,PRPS1
854751,X:106888323:C>A,NM_002764.3:c.531-84C>A,\N,\N,4/6,Unknown significance,\N,intron_variant,0.976,0.0019,1KG_AMR_AF,PRPS1
854752,X:106888333:C>T,NM_002764.3:c.531-74C>T,\N,\N,4/6,Benign,\N,intron_variant,1.019,0.2872,1KG_EUR_AF,PRPS1
854753,X:106888335:C>A,NM_002764.3:c.531-72C>A,\N,\N,4/6,Unknown significance,\N,intron_variant,0.452,0.001,1KG_AFR_AF,PRPS1
854754,X:106888358:C>A,NM_002764.3:c.531-49C>A,\N,\N,4/6,Unknown significance,\N,intron_variant,2.193,0.0013,1KG_EAS_AF,PRPS1
854755,X:106888369:G>T,NM_002764.3:c.531-38G>T,\N,\N,4/6,Unknown significance,\N,intron_variant,10.82,0.00148148,EXAC_SAS_AF,PRPS1
854756,X:106888379:A>G,NM_002764.3:c.531-28A>G,\N,\N,4/6,Unknown significance,\N,intron_variant,12.38,\N,\N,PRPS1
854757,X:106888382:C>CAT,NM_002764.3:c.531-22_531-21dup,\N,\N,4/6,Unknown significance,\N,intron_variant,12.3,0.000150648,EXAC_EAS_AF,PRPS1
854758,X:106888383:A>G,NM_002764.3:c.531-24A>G,\N,\N,4/6,Unknown significance,\N,intron_variant,10.34,0.0000833698,EXAC_NFE_AF,PRPS1
854759,X:106888386:T>C,NM_002764.3:c.531-21T>C,\N,\N,4/6,Benign,\N,intron_variant,8.326,0.00555556,OTO_ES_AF,PRPS1
854760,X:106888388:A>T,NM_002764.3:c.531-19A>T,\N,\N,4/6,Unknown significance,\N,intron_variant,3.004,\N,\N,PRPS1
854761,X:106888389:A>G,NM_002764.3:c.531-18A>G,\N,\N,4/6,Unknown significance,\N,intron_variant,4.284,\N,\N,PRPS1
854762,X:106888390:C>T,NM_002764.3:c.531-17C>T,\N,\N,4/6,Unknown significance,\N,intron_variant,2.785,0.0014,1KG_SAS_AF,PRPS1
854763,X:106888392:C>T,NM_002764.3:c.531-15C>T,\N,\N,4/6,Unknown significance,\N,intron_variant,2.919,0.00286231,EXAC_EAS_AF,PRPS1
854764,X:106888393:G>A,NM_002764.3:c.531-14G>A,\N,\N,4/6,Unknown significance,\N,intron_variant,0.435,0.0013,1KG_EUR_AF,PRPS1
854765,X:106888393:GCT>G,NM_002764.3:c.531-11_531-10del,\N,\N,4/6,Unknown significance,\N,intron_variant,2.839,0.0000987654,EXAC_SAS_AF,PRPS1
854766,X:106888423:G>C,NM_002764.3:c.547G>C,NP_002755.1:p.Asp183His,5/7,\N,Pathogenic,Phosphoribosylpyrophosphate synthetase superactivity,missense_variant,31,\N,\N,PRPS1
854767,X:106888445:C>T,NM_002764.3:c.569C>T,NP_002755.1:p.Ala190Val,5/7,\N,Pathogenic,Phosphoribosylpyrophosphate synthetase superactivity,missense_variant,34,\N,\N,PRPS1
854768,X:106888449:G>A,NM_002764.3:c.573G>A,NP_002755.1:p.Leu191=,5/7,\N,Unknown significance,\N,synonymous_variant,11.55,0.00198675,EXAC_FIN_AF,PRPS1
854769,X:106888454:A>T,NM_002764.3:c.578A>T,NP_002755.1:p.His193Leu,5/7,\N,Pathogenic,Phosphoribosylpyrophosphate synthetase superactivity,missense_variant,27.5,\N,\N,PRPS1
854770,X:106888455:C>G,NM_002764.3:c.579C>G,NP_002755.1:p.His193Gln,5/7,\N,Pathogenic,Phosphoribosylpyrophosphate synthetase superactivity,missense_variant,26.9,\N,\N,PRPS1
854771,X:106888462:C>T,NM_002764.3:c.586C>T,NP_002755.1:p.Arg196Trp,5/7,\N,Pathogenic,Prenatal growth restriction| retinal dystrophy| diabetes insipidus & white matter disease,missense_variant,35,\N,\N,PRPS1
854772,X:106888470:G>A,NM_002764.3:c.594G>A,NP_002755.1:p.Lys198=,5/7,\N,Unknown significance,\N,synonymous_variant,12.1,0.000148633,EVS_EA_AF,PRPS1
854773,X:106888520:T>G,NM_002764.3:c.644T>G,NP_002755.1:p.Val215Gly,5/7,\N,Unknown significance,\N,missense_variant,24.8,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,PRPS1
854774,X:106888536:T>C,NM_002764.3:c.660T>C,NP_002755.1:p.Asp220=,5/7,\N,Unknown significance,\N,synonymous_variant,6.226,0.00105453,EXAC_EAS_AF,PRPS1
854775,X:106888556:G>A,NM_002764.3:c.680G>A,NP_002755.1:p.Gly227Asp,5/7,\N,Unknown significance,\N,missense_variant,28.8,0.0000208333,EXAC_NFE_AF,PRPS1
854776,X:106888573:G>C,NM_002764.3:c.697G>C,NP_002755.1:p.Ala233Pro,5/7,\N,Unknown significance,\N,missense_variant,32,\N,\N,PRPS1
854777,X:106888574:C>A,NM_002764.3:c.698C>A,NP_002755.1:p.Ala233Asp,5/7,\N,Unknown significance,\N,missense_variant,34,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,PRPS1
854778,X:106888580:A>AACTTCTCTCAGCTGGCGCCACCAGAGTTTATGCCATCTTGACTCATG,NM_002764.3:c.704_704+1insACTTCTCTCAGCTGGCGCCACCAGAGTTTATGCCATCTTGACTCATG,NP_002755.1:p.Gly251AspfsTer14,\N,\N,Unknown significance,\N,frameshift_variant&splice_region_variant,34,\N,\N,PRPS1
854779,X:106888588:T>G,NM_002764.3:c.704+8T>G,\N,\N,5/6,Unknown significance,\N,splice_region_variant&intron_variant,8.618,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,PRPS1
854780,X:106888604:G>A,NM_002764.3:c.704+24G>A,\N,\N,5/6,Unknown significance,\N,intron_variant,2.538,0.000148633,EVS_EA_AF,PRPS1
854781,X:106888619:A>G,NM_002764.3:c.704+39A>G,\N,\N,5/6,Unknown significance,\N,intron_variant,5.696,0.0000987849,EXAC_SAS_AF,PRPS1
854782,X:106888623:T>C,NM_002764.3:c.704+43T>C,\N,\N,5/6,Unknown significance,\N,intron_variant,5.097,0.0000208538,EXAC_NFE_AF,PRPS1
854783,X:106888625:G>A,NM_002764.3:c.704+45G>A,\N,\N,5/6,Unknown significance,\N,intron_variant,4.504,0.0000208538,EXAC_NFE_AF,PRPS1
854784,X:106888627:A>AATTGCT,NM_002764.3:c.704+48_704+53dup,\N,\N,5/6,Unknown significance,\N,intron_variant,2.347,0.0000208598,EXAC_NFE_AF,PRPS1
854785,X:106888627:A>C,NM_002764.3:c.704+47A>C,\N,\N,5/6,Unknown significance,\N,intron_variant,4.101,0.0000417197,EXAC_NFE_AF,PRPS1
854786,X:106888631:G>C,NM_002764.3:c.704+51G>C,\N,\N,5/6,Unknown significance,\N,intron_variant,7.617,0.0000208668,EXAC_NFE_AF,PRPS1
854787,X:106888725:A>T,NM_002764.3:c.704+145A>T,\N,\N,5/6,Unknown significance,\N,intron_variant,3.808,0.001,1KG_AFR_AF,PRPS1
854788,X:106888767:A>G,NM_002764.3:c.704+187A>G,\N,\N,5/6,Unknown significance,\N,intron_variant,2.105,\N,\N,PRPS1
854789,X:106888809:AAC>A,NM_002764.3:c.704+233_704+234del,\N,\N,5/6,Unknown significance,\N,intron_variant,\N,\N,\N,PRPS1
854790,X:106888904:T>G,NM_002764.3:c.704+324T>G,\N,\N,5/6,Unknown significance,\N,intron_variant,2.185,0.001,1KG_AFR_AF,PRPS1
854791,X:106888913:C>T,NM_002764.3:c.704+333C>T,\N,\N,5/6,Unknown significance,\N,intron_variant,2.124,\N,\N,PRPS1
854792,X:106888931:C>T,NM_002764.3:c.704+351C>T,\N,\N,5/6,Unknown significance,\N,intron_variant,0.375,0.002,1KG_AFR_AF,PRPS1
854793,X:106888932:G>A,NM_002764.3:c.704+352G>A,\N,\N,5/6,Benign,\N,intron_variant,1.07,0.007,1KG_SAS_AF,PRPS1
854794,X:106888953:G>A,NM_002764.3:c.704+373G>A,\N,\N,5/6,Unknown significance,\N,intron_variant,1.21,0.001,1KG_AFR_AF,PRPS1
854795,X:106888992:A>G,NM_002764.3:c.704+412A>G,\N,\N,5/6,Unknown significance,\N,intron_variant,0.268,0.0014,1KG_SAS_AF,PRPS1
854796,X:106888994:A>G,NM_002764.3:c.704+414A>G,\N,\N,5/6,Unknown significance,\N,intron_variant,2.095,0.0028,1KG_SAS_AF,PRPS1
854797,X:106888999:T>C,NM_002764.3:c.704+419T>C,\N,\N,5/6,Unknown significance,\N,intron_variant,1.973,0.0026,1KG_EAS_AF,PRPS1
854798,X:106889024:G>T,NM_002764.3:c.704+444G>T,\N,\N,5/6,Unknown significance,\N,intron_variant,10.53,\N,\N,PRPS1
854799,X:106889030:C>A,NM_002764.3:c.704+450C>A,\N,\N,5/6,Unknown significance,\N,intron_variant,10.09,\N,\N,PRPS1
854800,X:106889047:C>T,NM_002764.3:c.704+467C>T,\N,\N,5/6,Unknown significance,\N,intron_variant,0.952,\N,\N,PRPS1
854801,X:106889052:G>A,NM_002764.3:c.704+472G>A,\N,\N,5/6,Unknown significance,\N,intron_variant,2.8,\N,\N,PRPS1
854802,X:106889121:G>T,NM_002764.3:c.704+541G>T,\N,\N,5/6,Unknown significance,\N,intron_variant,3.622,0.0013,1KG_EAS_AF,PRPS1
854803,X:106889252:A>G,NM_002764.3:c.704+672A>G,\N,\N,5/6,Unknown significance,\N,intron_variant,7.054,0.0026,1KG_EAS_AF,PRPS1
854804,X:106889289:A>G,NM_002764.3:c.704+709A>G,\N,\N,5/6,Benign,\N,intron_variant,3.384,0.007,1KG_AFR_AF,PRPS1
854805,X:106889290:T>C,NM_002764.3:c.704+710T>C,\N,\N,5/6,Unknown significance,\N,intron_variant,3.06,0.0038,1KG_AMR_AF,PRPS1
854806,X:106889292:C>A,NM_002764.3:c.704+712C>A,\N,\N,5/6,Benign,\N,intron_variant,0.415,0.0076,1KG_AMR_AF,PRPS1
854807,X:106889308:GCATTGTTT>G,NM_002764.3:c.704+730_704+737del,\N,\N,5/6,Unknown significance,\N,intron_variant,\N,0.0019,1KG_AMR_AF,PRPS1
854808,X:106889346:A>T,NM_002764.3:c.704+766A>T,\N,\N,5/6,Unknown significance,\N,intron_variant,5.988,0.0019,1KG_AMR_AF,PRPS1
854809,X:106889368:T>C,NM_002764.3:c.704+788T>C,\N,\N,5/6,Unknown significance,\N,intron_variant,2.582,0.0013,1KG_EUR_AF,PRPS1
854810,X:106889379:C>T,NM_002764.3:c.704+799C>T,\N,\N,5/6,Unknown significance,\N,intron_variant,3.022,0.001,1KG_AFR_AF,PRPS1
854811,X:106889445:G>A,NM_002764.3:c.704+865G>A,\N,\N,5/6,Unknown significance,\N,intron_variant,3.505,\N,\N,PRPS1
854812,X:106889524:T>A,NM_002764.3:c.704+944T>A,\N,\N,5/6,Unknown significance,\N,intron_variant,4.417,0.0028,1KG_SAS_AF,PRPS1
854813,X:106889571:C>T,NM_002764.3:c.704+991C>T,\N,\N,5/6,Unknown significance,\N,intron_variant,14.55,\N,\N,PRPS1
854814,X:106889586:T>C,NM_002764.3:c.704+1006T>C,\N,\N,5/6,Unknown significance,\N,intron_variant,12.64,0.0019,1KG_AMR_AF,PRPS1
854815,X:106889655:G>T,NM_002764.3:c.704+1075G>T,\N,\N,5/6,Unknown significance,\N,intron_variant,2.094,0.0013,1KG_EUR_AF,PRPS1
854816,X:106889668:T>C,NM_002764.3:c.704+1088T>C,\N,\N,5/6,Unknown significance,\N,intron_variant,1.92,0.0042,1KG_SAS_AF,PRPS1
854817,X:106889754:G>A,NM_002764.3:c.705-1082G>A,\N,\N,5/6,Unknown significance,\N,intron_variant,4.46,\N,\N,PRPS1
854818,X:106889782:T>G,NM_002764.3:c.705-1054T>G,\N,\N,5/6,Unknown significance,\N,intron_variant,4.832,0.0013,1KG_EAS_AF,PRPS1
854819,X:106889833:C>T,NM_002764.3:c.705-1003C>T,\N,\N,5/6,Unknown significance,\N,intron_variant,3.434,\N,\N,PRPS1
854820,X:106889930:A>G,NM_002764.3:c.705-906A>G,\N,\N,5/6,Unknown significance,\N,intron_variant,8.854,\N,\N,PRPS1
854821,X:106890008:G>A,NM_002764.3:c.705-828G>A,\N,\N,5/6,Unknown significance,\N,intron_variant,11.99,0.0013,1KG_EUR_AF,PRPS1
854822,X:106890109:A>T,NM_002764.3:c.705-727A>T,\N,\N,5/6,Unknown significance,\N,intron_variant,1.743,0.001,1KG_AFR_AF,PRPS1
854823,X:106890131:G>A,NM_002764.3:c.705-705G>A,\N,\N,5/6,Unknown significance,\N,intron_variant,0.815,0.0014,1KG_SAS_AF,PRPS1
854824,X:106890132:AG>A,NM_002764.3:c.705-701del,\N,\N,5/6,Unknown significance,\N,intron_variant,\N,\N,\N,PRPS1
854825,X:106890137:G>T,NM_002764.3:c.705-699G>T,\N,\N,5/6,Unknown significance,\N,intron_variant,0.969,0.0019,1KG_AMR_AF,PRPS1
854826,X:106890138:G>T,NM_002764.3:c.705-698G>T,\N,\N,5/6,Unknown significance,\N,intron_variant,1.238,0.0019,1KG_AMR_AF,PRPS1
854827,X:106890207:A>G,NM_002764.3:c.705-629A>G,\N,\N,5/6,Unknown significance,\N,intron_variant,0.905,\N,\N,PRPS1
854828,X:106890266:T>C,NM_002764.3:c.705-570T>C,\N,\N,5/6,Unknown significance,\N,intron_variant,0.857,0.0028,1KG_SAS_AF,PRPS1
854829,X:106890359:C>T,NM_002764.3:c.705-477C>T,\N,\N,5/6,Benign,\N,intron_variant,0.378,0.0379,1KG_AFR_AF,PRPS1
854830,X:106890360:G>A,NM_002764.3:c.705-476G>A,\N,\N,5/6,Unknown significance,\N,intron_variant,0.133,\N,\N,PRPS1
854831,X:106890452:T>A,NM_002764.3:c.705-384T>A,\N,\N,5/6,Benign,\N,intron_variant,6.993,0.0134,1KG_AMR_AF,PRPS1
854832,X:106890466:G>A,NM_002764.3:c.705-370G>A,\N,\N,5/6,Unknown significance,\N,intron_variant,0.224,0.0014,1KG_SAS_AF,PRPS1
854833,X:106890471:C>T,NM_002764.3:c.705-365C>T,\N,\N,5/6,Unknown significance,\N,intron_variant,1.886,\N,\N,PRPS1
854834,X:106890481:C>T,NM_002764.3:c.705-355C>T,\N,\N,5/6,Unknown significance,\N,intron_variant,3.638,0.0013,1KG_EAS_AF,PRPS1
854835,X:106890504:G>T,NM_002764.3:c.705-332G>T,\N,\N,5/6,Unknown significance,\N,intron_variant,6.326,0.0014,1KG_SAS_AF,PRPS1
854836,X:106890517:A>C,NM_002764.3:c.705-319A>C,\N,\N,5/6,Benign,\N,intron_variant,1.406,0.0092,1KG_EAS_AF,PRPS1
854837,X:106890575:T>C,NM_002764.3:c.705-261T>C,\N,\N,5/6,Unknown significance,\N,intron_variant,1.754,\N,\N,PRPS1
854838,X:106890621:G>C,NM_002764.3:c.705-215G>C,\N,\N,5/6,Unknown significance,\N,intron_variant,0.114,0.002,1KG_AFR_AF,PRPS1
854839,X:106890648:A>G,NM_002764.3:c.705-188A>G,\N,\N,5/6,Benign,\N,intron_variant,4.707,0.084,1KG_AMR_AF,PRPS1
854840,X:106890679:C>G,NM_002764.3:c.705-157C>G,\N,\N,5/6,Unknown significance,\N,intron_variant,2.938,0.0026,1KG_EAS_AF,PRPS1
854841,X:106890697:TTATAA>T,NM_002764.3:c.705-135_705-131del,\N,\N,5/6,Benign,\N,intron_variant,8.04,0.2154,1KG_AFR_AF,PRPS1
854842,X:106890700:T>C,NM_002764.3:c.705-136T>C,\N,\N,5/6,Unknown significance,\N,intron_variant,3.255,\N,\N,PRPS1
854843,X:106890711:ATTT>A,NM_002764.3:c.705-120_705-118del,\N,\N,5/6,Benign,\N,intron_variant,4.859,0.084,1KG_AMR_AF,PRPS1
854844,X:106890797:CAAGT>C,NM_002764.3:c.705-35_705-32del,\N,\N,5/6,Unknown significance,\N,intron_variant,7.196,0.0000208603,EXAC_NFE_AF,PRPS1
854845,X:106890803:A>G,NM_002764.3:c.705-33A>G,\N,\N,5/6,Unknown significance,\N,intron_variant,5.719,0.0000208594,EXAC_NFE_AF,PRPS1
854846,X:106890805:A>T,NM_002764.3:c.705-31A>T,\N,\N,5/6,Unknown significance,\N,intron_variant,2.782,0.000301296,EXAC_EAS_AF,PRPS1
854847,X:106890810:T>C,NM_002764.3:c.705-26T>C,\N,\N,5/6,Unknown significance,\N,intron_variant,5.72,0.0000988338,EXAC_SAS_AF,PRPS1
854848,X:106890815:A>G,NM_002764.3:c.705-21A>G,\N,\N,5/6,Unknown significance,\N,intron_variant,1.43,0.001,1KG_AFR_AF,PRPS1
854849,X:106890820:C>T,NM_002764.3:c.705-16C>T,\N,\N,5/6,Unknown significance,\N,intron_variant,3.508,0.0000417032,EXAC_NFE_AF,PRPS1
854850,X:106890821:A>AT,NM_002764.3:c.705-9dup,\N,\N,5/6,Unknown significance,\N,intron_variant,0.039,0.000296413,EXAC_SAS_AF,PRPS1
854851,X:106890825:T>C,NM_002764.3:c.705-11T>C,\N,\N,5/6,Unknown significance,\N,intron_variant,0.766,0.003,1KG_AFR_AF,PRPS1
854852,X:106890830:C>T,NM_002764.3:c.705-6C>T,\N,\N,5/6,Unknown significance,\N,splice_region_variant&intron_variant,2.531,0.0013,1KG_EUR_AF,PRPS1
854853,X:106890851:C>T,NM_002764.3:c.720C>T,NP_002755.1:p.Gly240=,6/7,\N,Unknown significance,\N,synonymous_variant,18.51,0.000753239,EXAC_EAS_AF,PRPS1
854854,X:106890890:C>T,NM_002764.3:c.759C>T,NP_002755.1:p.Phe253=,6/7,\N,Unknown significance,\N,synonymous_variant,13.97,0.000107262,EXAC_AMR_AF,PRPS1
854855,X:106890893:C>T,NM_002764.3:c.762C>T,NP_002755.1:p.Ser254=,6/7,\N,Unknown significance,\N,synonymous_variant,17.93,0.000107262,EXAC_AMR_AF,PRPS1
854856,X:106890915:A>C,NM_002764.3:c.784A>C,NP_002755.1:p.Asn262His,6/7,\N,Unknown significance,\N,missense_variant,23.5,0.0000987752,EXAC_SAS_AF,PRPS1
854857,X:106890961:A>C,NM_001204402.1:c.218A>C,NP_001191331.1:p.Gln73Pro,3/4,\N,Pathogenic,Charcot-Marie-Tooth disease 5 and Arts syndrome,missense_variant,20.2,\N,\N,PRPS1
854858,X:106890971:G>A,NM_002764.3:c.840G>A,NP_002755.1:p.Lys280=,6/7,\N,Unknown significance,\N,synonymous_variant,15.36,\N,\N,PRPS1
854859,X:106890989:A>G,NM_002764.3:c.858A>G,NP_002755.1:p.Lys286=,6/7,\N,Unknown significance,\N,synonymous_variant,5.777,0.000188249,EXAC_NFE_AF,PRPS1
854860,X:106890999:A>ATTGACATCTCTATGATCCTTGCAGAAGCCATCAGGAGAACTCACAAT,NM_002764.3:c.864+4_864+5insTTGACATCTCTATGATCCTTGCAGAAGCCATCAGGAGAACTCACAAT,\N,\N,6/6,Unknown significance,\N,splice_region_variant&intron_variant,0.631,\N,\N,PRPS1
854861,X:106891005:A>G,NM_002764.3:c.864+10A>G,\N,\N,6/6,Unknown significance,\N,intron_variant,4.883,0.000042179,EXAC_NFE_AF,PRPS1
854862,X:106891013:G>C,NM_002764.3:c.864+18G>C,\N,\N,6/6,Unknown significance,\N,intron_variant,0.308,0.0000212022,EXAC_NFE_AF,PRPS1
854863,X:106891021:A>G,NM_002764.3:c.864+26A>G,\N,\N,6/6,Unknown significance,\N,intron_variant,4.395,0.00011885,EXAC_AFR_AF,PRPS1
854864,X:106891036:T>A,NM_002764.3:c.864+41T>A,\N,\N,6/6,Unknown significance,\N,intron_variant,4.394,0.00208605,EVS_AA_AF,PRPS1
854865,X:106891056:G>A,NM_002764.3:c.864+61G>A,\N,\N,6/6,Benign,\N,intron_variant,1.83,0.0349,1KG_AFR_AF,PRPS1
854866,X:106891104:G>A,NM_002764.3:c.864+109G>A,\N,\N,6/6,Unknown significance,\N,intron_variant,4.021,\N,\N,PRPS1
854867,X:106891163:CT>C,NM_002764.3:c.864+179del,\N,\N,6/6,Benign,\N,intron_variant,0.441,0.1994,1KG_AFR_AF,PRPS1
854868,X:106891181:A>T,NM_002764.3:c.864+186A>T,\N,\N,6/6,Unknown significance,\N,intron_variant,6.526,\N,\N,PRPS1
854869,X:106891193:C>T,NM_002764.3:c.864+198C>T,\N,\N,6/6,Unknown significance,\N,intron_variant,1.613,0.0013,1KG_EAS_AF,PRPS1
854870,X:106891332:T>C,NM_002764.3:c.864+337T>C,\N,\N,6/6,Unknown significance,\N,intron_variant,5.052,\N,\N,PRPS1
854871,X:106891350:C>G,NM_002764.3:c.864+355C>G,\N,\N,6/6,Unknown significance,\N,intron_variant,2.499,0.0019,1KG_AMR_AF,PRPS1
854872,X:106891380:C>G,NM_002764.3:c.864+385C>G,\N,\N,6/6,Unknown significance,\N,intron_variant,3.328,0.0013,1KG_EAS_AF,PRPS1
854873,X:106891423:G>A,NM_002764.3:c.864+428G>A,\N,\N,6/6,Unknown significance,\N,intron_variant,13.09,0.0014,1KG_SAS_AF,PRPS1
854874,X:106891522:T>A,NM_002764.3:c.864+527T>A,\N,\N,6/6,Unknown significance,\N,intron_variant,13.22,\N,\N,PRPS1
854875,X:106891529:G>A,NM_002764.3:c.864+534G>A,\N,\N,6/6,Unknown significance,\N,intron_variant,2.595,0.001,1KG_AFR_AF,PRPS1
854876,X:106891609:C>T,NM_002764.3:c.864+614C>T,\N,\N,6/6,Unknown significance,\N,intron_variant,1.811,0.0014,1KG_SAS_AF,PRPS1
854877,X:106891654:CT>C,NM_002764.3:c.864+677del,\N,\N,6/6,Benign,\N,intron_variant,1.288,0.2576,1KG_AMR_AF,PRPS1
854878,X:106891689:C>A,NM_002764.3:c.864+694C>A,\N,\N,6/6,Unknown significance,\N,intron_variant,1.3,0.0026,1KG_EAS_AF,PRPS1
854879,X:106891702:C>T,NM_002764.3:c.864+707C>T,\N,\N,6/6,Unknown significance,\N,intron_variant,0.051,0.0013,1KG_EAS_AF,PRPS1
854880,X:106891709:C>T,NM_002764.3:c.864+714C>T,\N,\N,6/6,Benign,\N,intron_variant,0.149,0.006,1KG_AFR_AF,PRPS1
854881,X:106891760:T>C,NM_002764.3:c.864+765T>C,\N,\N,6/6,Unknown significance,\N,intron_variant,0.296,0.0014,1KG_SAS_AF,PRPS1
854882,X:106891785:G>A,NM_002764.3:c.864+790G>A,\N,\N,6/6,Unknown significance,\N,intron_variant,0.161,0.0013,1KG_EAS_AF,PRPS1
854883,X:106891843:A>G,NM_002764.3:c.864+848A>G,\N,\N,6/6,Unknown significance,\N,intron_variant,0.883,\N,\N,PRPS1
854884,X:106891881:T>C,NM_002764.3:c.864+886T>C,\N,\N,6/6,Unknown significance,\N,intron_variant,0.161,\N,\N,PRPS1
854885,X:106891888:C>T,NM_002764.3:c.864+893C>T,\N,\N,6/6,Unknown significance,\N,intron_variant,1.112,\N,\N,PRPS1
854886,X:106891918:C>T,NM_002764.3:c.864+923C>T,\N,\N,6/6,Unknown significance,\N,intron_variant,6.554,\N,\N,PRPS1
854887,X:106891939:A>AT,NM_002764.3:c.864+952dup,\N,\N,6/6,Unknown significance,\N,intron_variant,\N,0.001,1KG_AFR_AF,PRPS1
854888,X:106891941:T>C,NM_002764.3:c.864+946T>C,\N,\N,6/6,Unknown significance,\N,intron_variant,9.001,\N,\N,PRPS1
854889,X:106892038:G>A,NM_002764.3:c.864+1043G>A,\N,\N,6/6,Unknown significance,\N,intron_variant,0.802,0.0013,1KG_EUR_AF,PRPS1
854890,X:106892067:G>A,NM_002764.3:c.864+1072G>A,\N,\N,6/6,Unknown significance,\N,intron_variant,1.27,0.004,1KG_AFR_AF,PRPS1
854891,X:106892094:A>T,NM_002764.3:c.865-1076A>T,\N,\N,6/6,Unknown significance,\N,intron_variant,1.04,0.0042,1KG_SAS_AF,PRPS1
854892,X:106892146:C>T,NM_002764.3:c.865-1024C>T,\N,\N,6/6,Unknown significance,\N,intron_variant,0.614,\N,\N,PRPS1
854893,X:106892224:G>A,NM_002764.3:c.865-946G>A,\N,\N,6/6,Unknown significance,\N,intron_variant,1.447,\N,\N,PRPS1
854894,X:106892231:C>T,NM_002764.3:c.865-939C>T,\N,\N,6/6,Unknown significance,\N,intron_variant,2.32,\N,\N,PRPS1
854895,X:106892311:C>T,NM_002764.3:c.865-859C>T,\N,\N,6/6,Benign,\N,intron_variant,1.927,0.0209,1KG_SAS_AF,PRPS1
854896,X:106892341:G>T,NM_002764.3:c.865-829G>T,\N,\N,6/6,Unknown significance,\N,intron_variant,0.472,0.001,1KG_AFR_AF,PRPS1
854897,X:106892417:C>T,NM_002764.3:c.865-753C>T,\N,\N,6/6,Unknown significance,\N,intron_variant,0.741,0.0014,1KG_SAS_AF,PRPS1
854898,X:106892476:C>T,NM_002764.3:c.865-694C>T,\N,\N,6/6,Unknown significance,\N,intron_variant,3.128,\N,\N,PRPS1
854899,X:106892498:G>A,NM_002764.3:c.865-672G>A,\N,\N,6/6,Benign,\N,intron_variant,3.662,0.009,1KG_AFR_AF,PRPS1
854900,X:106892503:GAC>G,NM_002764.3:c.865-665_865-664del,\N,\N,6/6,Unknown significance,\N,intron_variant,\N,0.0028,1KG_SAS_AF,PRPS1
854901,X:106892528:G>A,NM_002764.3:c.865-642G>A,\N,\N,6/6,Unknown significance,\N,intron_variant,2.584,0.0014,1KG_SAS_AF,PRPS1
854902,X:106892542:C>T,NM_002764.3:c.865-628C>T,\N,\N,6/6,Benign,\N,intron_variant,3.527,0.0065,1KG_EAS_AF,PRPS1
854903,X:106892578:A>G,NM_002764.3:c.865-592A>G,\N,\N,6/6,Unknown significance,\N,intron_variant,1.765,0.0028,1KG_SAS_AF,PRPS1
854904,X:106892592:C>T,NM_002764.3:c.865-578C>T,\N,\N,6/6,Unknown significance,\N,intron_variant,2.479,\N,\N,PRPS1
854905,X:106892605:C>T,NM_002764.3:c.865-565C>T,\N,\N,6/6,Unknown significance,\N,intron_variant,4.206,\N,\N,PRPS1
854906,X:106892670:C>G,NM_002764.3:c.865-500C>G,\N,\N,6/6,Unknown significance,\N,intron_variant,5.554,0.0019,1KG_AMR_AF,PRPS1
854907,X:106892678:CTGTTT>C,NM_002764.3:c.865-477_865-473del,\N,\N,6/6,Unknown significance,\N,intron_variant,2.415,\N,\N,PRPS1
854908,X:106892715:C>T,NM_002764.3:c.865-455C>T,\N,\N,6/6,Unknown significance,\N,intron_variant,1.499,0.0013,1KG_EAS_AF,PRPS1
854909,X:106892748:G>A,NM_002764.3:c.865-422G>A,\N,\N,6/6,Unknown significance,\N,intron_variant,0.254,0.0013,1KG_EUR_AF,PRPS1
854910,X:106892749:A>G,NM_002764.3:c.865-421A>G,\N,\N,6/6,Unknown significance,\N,intron_variant,2.676,\N,\N,PRPS1
854911,X:106892775:C>A,NM_002764.3:c.865-395C>A,\N,\N,6/6,Unknown significance,\N,intron_variant,0.799,0.001,1KG_AFR_AF,PRPS1
854912,X:106892829:C>T,NM_002764.3:c.865-341C>T,\N,\N,6/6,Unknown significance,\N,intron_variant,1.294,0.0014,1KG_SAS_AF,PRPS1
854913,X:106892830:G>A,NM_002764.3:c.865-340G>A,\N,\N,6/6,Benign,\N,intron_variant,0.248,0.0313,1KG_EUR_AF,PRPS1
854914,X:106892851:T>A,NM_002764.3:c.865-319T>A,\N,\N,6/6,Unknown significance,\N,intron_variant,6.614,\N,\N,PRPS1
854915,X:106892934:AC>A,NM_002764.3:c.865-234del,\N,\N,6/6,Unknown significance,\N,intron_variant,\N,\N,\N,PRPS1
854916,X:106892936:C>CT,NM_002764.3:c.865-232dup,\N,\N,6/6,Unknown significance,\N,intron_variant,\N,\N,\N,PRPS1
854917,X:106892936:C>T,NM_002764.3:c.865-234C>T,\N,\N,6/6,Benign,\N,intron_variant,6.958,0.2273,1KG_AFR_AF,PRPS1
854918,X:106892980:G>T,NM_002764.3:c.865-190G>T,\N,\N,6/6,Benign,\N,intron_variant,0.314,0.0056,1KG_SAS_AF,PRPS1
854919,X:106892988:G>A,NM_002764.3:c.865-182G>A,\N,\N,6/6,Unknown significance,\N,intron_variant,0.897,0.0013,1KG_EAS_AF,PRPS1
854920,X:106892997:T>C,NM_002764.3:c.865-173T>C,\N,\N,6/6,Unknown significance,\N,intron_variant,1.318,\N,\N,PRPS1
854921,X:106893012:A>G,NM_002764.3:c.865-158A>G,\N,\N,6/6,Unknown significance,\N,intron_variant,1.856,\N,\N,PRPS1
854922,X:106893042:A>G,NM_002764.3:c.865-128A>G,\N,\N,6/6,Unknown significance,\N,intron_variant,3.281,\N,\N,PRPS1
854923,X:106893051:G>A,NM_002764.3:c.865-119G>A,\N,\N,6/6,Unknown significance,\N,intron_variant,5.904,0.0026,1KG_EAS_AF,PRPS1
854924,X:106893093:G>A,NM_002764.3:c.865-77G>A,\N,\N,6/6,Unknown significance,\N,intron_variant,4.11,0.001,1KG_AFR_AF,PRPS1
854925,X:106893120:T>C,NM_002764.3:c.865-50T>C,\N,\N,6/6,Unknown significance,\N,intron_variant,7.418,0.003125,OTO_CO_AF,PRPS1
854926,X:106893130:C>T,NM_002764.3:c.865-40C>T,\N,\N,6/6,Unknown significance,\N,intron_variant,7.741,0.0000208394,EXAC_NFE_AF,PRPS1
854927,X:106893134:A>G,NM_002764.3:c.865-36A>G,\N,\N,6/6,Unknown significance,\N,intron_variant,4.865,0.000148633,EVS_EA_AF,PRPS1
854928,X:106893138:T>C,NM_002764.3:c.865-32T>C,\N,\N,6/6,Unknown significance,\N,intron_variant,5.545,0.00011744,EXAC_AFR_AF,PRPS1
854929,X:106893139:A>G,NM_002764.3:c.865-31A>G,\N,\N,6/6,Unknown significance,\N,intron_variant,3.313,0.0000208394,EXAC_NFE_AF,PRPS1
854930,X:106893156:T>C,NM_002764.3:c.865-14T>C,\N,\N,6/6,Unknown significance,\N,intron_variant,2.202,0.000107262,EXAC_AMR_AF,PRPS1
854931,X:106893174:T>C,NM_002764.3:c.869T>C,NP_002755.1:p.Ile290Thr,7/7,\N,Pathogenic,Sensorineural deafness| nonsyndromic,missense_variant,23.5,\N,\N,PRPS1
854932,X:106893175:T>C,NM_002764.3:c.870T>C,NP_002755.1:p.Ile290=,7/7,\N,Unknown significance,\N,synonymous_variant,6.967,0.0002145,EXAC_AMR_AF,PRPS1
854933,X:106893181:C>T,NM_002764.3:c.876C>T,NP_002755.1:p.Ile292=,7/7,\N,Unknown significance,\N,synonymous_variant,16.69,0.000125005,EXAC_NFE_AF,PRPS1
854934,X:106893204:T>C,NM_002764.3:c.899T>C,NP_002755.1:p.Ile300Thr,7/7,\N,Unknown significance,\N,missense_variant,24.1,0.000150648,EXAC_EAS_AF,PRPS1
854935,X:106893220:T>A,NM_002764.3:c.915T>A,NP_002755.1:p.Asn305Lys,7/7,\N,Unknown significance,\N,missense_variant,28.2,0.000150648,EXAC_EAS_AF,PRPS1
854936,X:106893221:G>A,NM_002764.3:c.916G>A,NP_002755.1:p.Gly306Arg,7/7,\N,Pathogenic,Sensorineural deafness| nonsyndromic,missense_variant,33,\N,\N,PRPS1
854937,X:106893229:C>A,NM_002764.3:c.924C>A,NP_002755.1:p.Ser308=,7/7,\N,Unknown significance,\N,synonymous_variant,20.7,0.0000987654,EXAC_SAS_AF,PRPS1
854938,X:106893229:C>T,NM_002764.3:c.924C>T,NP_002755.1:p.Ser308=,7/7,\N,Unknown significance,\N,synonymous_variant,18.27,0.000220751,EXAC_FIN_AF,PRPS1
854939,X:106893230:G>T,NM_002764.3:c.925G>T,NP_002755.1:p.Val309Phe,7/7,\N,Pathogenic,Hearing loss| X-linked & peripheral neuropathy,missense_variant,33,\N,\N,PRPS1
854940,X:106893247:C>T,NM_002764.3:c.942C>T,NP_002755.1:p.Ser314=,7/7,\N,Benign,\N,synonymous_variant,16.59,0.00555556,OTO_ES_AF,PRPS1
854941,X:106893277:A>G,NM_002764.3:c.*15A>G,\N,7/7,\N,Unknown significance,\N,3_prime_UTR_variant,12.38,0.0000208773,EXAC_NFE_AF,PRPS1
854942,X:106893284:T>C,NM_002764.3:c.*22T>C,\N,7/7,\N,Unknown significance,\N,3_prime_UTR_variant,9.069,0.0000989022,EXAC_SAS_AF,PRPS1
854943,X:106893298:C>T,NM_002764.3:c.*36C>T,\N,7/7,\N,Unknown significance,\N,3_prime_UTR_variant,2.424,0.0000209666,EXAC_NFE_AF,PRPS1
854944,X:106893299:A>C,NM_002764.3:c.*37A>C,\N,7/7,\N,Unknown significance,\N,3_prime_UTR_variant,2.59,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,PRPS1
854945,X:106893301:C>T,NM_002764.3:c.*39C>T,\N,7/7,\N,Unknown significance,\N,3_prime_UTR_variant,5.537,0.0000209916,EXAC_NFE_AF,PRPS1
854946,X:106893304:A>C,NM_002764.3:c.*42A>C,\N,7/7,\N,Unknown significance,\N,3_prime_UTR_variant,3.43,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,PRPS1
854947,X:106893344:A>G,NM_002764.3:c.*82A>G,\N,7/7,\N,Unknown significance,\N,3_prime_UTR_variant,15.48,0.0013,1KG_EUR_AF,PRPS1
854948,X:106893382:C>T,NM_002764.3:c.*120C>T,\N,7/7,\N,Unknown significance,\N,3_prime_UTR_variant,6.396,0.0019,1KG_AMR_AF,PRPS1
854949,X:106893399:C>G,NM_002764.3:c.*137C>G,\N,7/7,\N,Unknown significance,\N,3_prime_UTR_variant,2.018,\N,\N,PRPS1
854950,X:106893399:C>T,NM_002764.3:c.*137C>T,\N,7/7,\N,Unknown significance,\N,3_prime_UTR_variant,3.392,\N,\N,PRPS1
854951,X:106893406:G>A,NM_002764.3:c.*144G>A,\N,7/7,\N,Unknown significance,\N,3_prime_UTR_variant,1.251,\N,\N,PRPS1
854952,X:106893420:C>T,NM_002764.3:c.*158C>T,\N,7/7,\N,Unknown significance,\N,3_prime_UTR_variant,7.945,0.002,1KG_AFR_AF,PRPS1
854953,X:106893421:G>A,NM_002764.3:c.*159G>A,\N,7/7,\N,Unknown significance,\N,3_prime_UTR_variant,6.737,\N,\N,PRPS1
854954,X:106893428:G>A,NM_002764.3:c.*166G>A,\N,7/7,\N,Unknown significance,\N,3_prime_UTR_variant,8.561,\N,\N,PRPS1
854955,X:106893440:G>A,NM_002764.3:c.*178G>A,\N,7/7,\N,Benign,\N,3_prime_UTR_variant,5.033,0.0209,1KG_SAS_AF,PRPS1
854956,X:106893456:T>TTATC,NM_002764.3:c.*196_*199dup,\N,7/7,\N,Unknown significance,\N,3_prime_UTR_variant,\N,\N,\N,PRPS1
854957,X:106893514:AGCT>A,NM_002764.3:c.*258_*260del,\N,7/7,\N,Benign,\N,3_prime_UTR_variant,12.89,0.007,1KG_SAS_AF,PRPS1
854958,X:106893651:G>A,NM_002764.3:c.*389G>A,\N,7/7,\N,Benign,\N,3_prime_UTR_variant,2.431,0.2283,1KG_AFR_AF,PRPS1
854959,X:106893651:G>C,NM_002764.3:c.*389G>C,\N,7/7,\N,Unknown significance,\N,3_prime_UTR_variant,0.428,0.003,1KG_AFR_AF,PRPS1
854960,X:106893697:C>A,NM_002764.3:c.*435C>A,\N,7/7,\N,Unknown significance,\N,3_prime_UTR_variant,5.508,0.0014,1KG_SAS_AF,PRPS1
854961,X:106893713:C>T,NM_002764.3:c.*451C>T,\N,7/7,\N,Unknown significance,\N,3_prime_UTR_variant,6.045,0.0019,1KG_AMR_AF,PRPS1
854962,X:106893733:A>C,NM_002764.3:c.*471A>C,\N,7/7,\N,Unknown significance,\N,3_prime_UTR_variant,3.344,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,PRPS1
854963,X:106893734:C>A,NM_002764.3:c.*472C>A,\N,7/7,\N,Unknown significance,\N,3_prime_UTR_variant,3.406,\N,\N,PRPS1
854964,X:106893785:G>T,NM_002764.3:c.*523G>T,\N,7/7,\N,Unknown significance,\N,3_prime_UTR_variant,4.34,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,PRPS1
854965,X:106893786:T>G,NM_002764.3:c.*524T>G,\N,7/7,\N,Unknown significance,\N,3_prime_UTR_variant,8.965,0.003125,OTO_US_AF,PRPS1
854966,X:106893787:G>T,NM_002764.3:c.*525G>T,\N,7/7,\N,Unknown significance,\N,3_prime_UTR_variant,6.74,\N,\N,PRPS1
854967,X:106893793:T>G,NM_002764.3:c.*531T>G,\N,7/7,\N,Benign,\N,3_prime_UTR_variant,7.385,0.01,OTO_TR_AF,PRPS1
854968,X:106893795:G>T,NM_002764.3:c.*533G>T,\N,7/7,\N,Unknown significance,\N,3_prime_UTR_variant,4.442,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,PRPS1
854969,X:106893797:T>G,NM_002764.3:c.*535T>G,\N,7/7,\N,Unknown significance,\N,3_prime_UTR_variant,7.646,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,PRPS1
854970,X:106893801:G>C,NM_002764.3:c.*539G>C,\N,7/7,\N,Unknown significance,\N,3_prime_UTR_variant,0.792,\N,\N,PRPS1
854971,X:106893801:G>T,NM_002764.3:c.*539G>T,\N,7/7,\N,Benign,\N,3_prime_UTR_variant,1.345,0.035,OTO_JP_AF,PRPS1
854972,X:106893813:A>C,NM_002764.3:c.*551A>C,\N,7/7,\N,Unknown significance,\N,3_prime_UTR_variant,10.28,\N,\N,PRPS1
854973,X:106893821:G>A,NM_002764.3:c.*559G>A,\N,7/7,\N,Unknown significance,\N,3_prime_UTR_variant,13.4,\N,\N,PRPS1
854974,X:106893839:G>T,NM_002764.3:c.*577G>T,\N,7/7,\N,Unknown significance,\N,3_prime_UTR_variant,15.29,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,PRPS1
854975,X:106893857:A>C,NM_002764.3:c.*595A>C,\N,7/7,\N,Unknown significance,\N,3_prime_UTR_variant,9.98,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,PRPS1
854976,X:106893913:G>A,NM_002764.3:c.*651G>A,\N,7/7,\N,Unknown significance,\N,3_prime_UTR_variant,8.097,\N,\N,PRPS1
854977,X:106893941:T>C,NM_002764.3:c.*679T>C,\N,7/7,\N,Benign,\N,3_prime_UTR_variant,10.35,0.01,OTO_TR_AF,PRPS1
854978,X:106893942:C>G,NM_002764.3:c.*680C>G,\N,7/7,\N,Unknown significance,\N,3_prime_UTR_variant,11.79,0.001,1KG_AFR_AF,PRPS1
854979,X:106893958:C>T,NM_002764.3:c.*696C>T,\N,7/7,\N,Unknown significance,\N,3_prime_UTR_variant,12.91,\N,\N,PRPS1
854980,X:106893987:T>C,NM_002764.3:c.*725T>C,\N,7/7,\N,Benign,\N,3_prime_UTR_variant,12.52,0.00625,OTO_CO_AF,PRPS1
854981,X:106894024:G>T,NM_002764.3:c.*762G>T,\N,7/7,\N,Benign,\N,3_prime_UTR_variant,2.357,0.005,OTO_AJ_AF,PRPS1
854982,X:106894106:C>T,NM_002764.3:c.*844C>T,\N,7/7,\N,Unknown significance,\N,3_prime_UTR_variant,5.915,\N,\N,PRPS1
854983,X:106894107:G>A,NM_002764.3:c.*845G>A,\N,7/7,\N,Benign,\N,3_prime_UTR_variant,5.913,0.0056,1KG_SAS_AF,PRPS1
854984,X:106894184:A>G,NM_002764.3:c.*922A>G,\N,7/7,\N,Unknown significance,\N,3_prime_UTR_variant,8.17,\N,\N,PRPS