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
328183,12:133195367:T>C,NM_170683.3:c.-36T>C,\N,1/10,\N,Benign,\N,5_prime_UTR_variant,1.721,0.333333,EXAC_EAS_AF,P2RX2
328184,12:133195382:G>T,NM_170683.3:c.-21G>T,\N,1/10,\N,Unknown significance,\N,5_prime_UTR_variant,7.19,\N,\N,P2RX2
328185,12:133195387:G>T,NM_170683.3:c.-16G>T,\N,1/10,\N,Unknown significance,\N,5_prime_UTR_variant,8.615,\N,\N,P2RX2
328186,12:133195391:GCCGCCCGCGCCATGGCCGCCGCCCAGCCCAAGTACCCCGCCGGGGCGA>G,NM_170683.3:c.-4_44del,\N,1/10,\N,Unknown significance,\N,start_lost&5_prime_UTR_variant,23,\N,\N,P2RX2
328187,12:133195393:C>T,NM_170683.3:c.-10C>T,\N,1/10,\N,Benign,\N,5_prime_UTR_variant,17.64,0.166667,EXAC_AMR_AF,P2RX2
328188,12:133195397:C>A,NM_170683.3:c.-6C>A,\N,1/10,\N,Unknown significance,\N,5_prime_UTR_variant,18.94,\N,\N,P2RX2
328189,12:133195398:G>A,NM_170683.3:c.-5G>A,\N,1/10,\N,Benign,\N,5_prime_UTR_variant,17.05,0.015873,EXAC_EAS_AF,P2RX2
328190,12:133195400:G>A,NM_170683.3:c.-3G>A,\N,1/10,\N,Unknown significance,\N,5_prime_UTR_variant,16.14,\N,\N,P2RX2
328191,12:133195402:C>G,NM_170683.3:c.-1C>G,\N,1/10,\N,Unknown significance,\N,5_prime_UTR_variant,15.72,\N,\N,P2RX2
328192,12:133195406:G>GC,NM_170683.3:c.6dup,NP_733783.1:p.Ala3ArgfsTer269,1/10,\N,Unknown significance,\N,frameshift_variant,26,0.00324675,EXAC_EAS_AF,P2RX2
328193,12:133195409:G>T,NM_170683.3:c.7G>T,NP_733783.1:p.Ala3Ser,1/10,\N,Likely benign,\N,missense_variant,22.3,0.00213675,EXAC_EAS_AF,P2RX2
328194,12:133195411:C>T,NM_170683.3:c.9C>T,NP_733783.1:p.Ala3=,1/10,\N,Benign,\N,synonymous_variant,16.09,0.228053,EXAC_AFR_AF,P2RX2
328195,12:133195413:C>A,NM_170683.3:c.11C>A,NP_733783.1:p.Ala4Asp,1/10,\N,Unknown significance,\N,missense_variant,22.6,\N,\N,P2RX2
328196,12:133195414:C>G,NM_170683.3:c.12C>G,NP_733783.1:p.Ala4=,1/10,\N,Unknown significance,\N,synonymous_variant,10.49,0.000758725,EXAC_AFR_AF,P2RX2
328197,12:133195418:C>A,NM_170683.3:c.16C>A,NP_733783.1:p.Pro6Thr,1/10,\N,Unknown significance,\N,missense_variant,23.8,0.00171233,EXAC_AMR_AF,P2RX2
328198,12:133195430:G>T,NM_170683.3:c.28G>T,NP_733783.1:p.Ala10Ser,1/10,\N,Unknown significance,\N,missense_variant,12.79,0.0000584317,EXAC_NFE_AF,P2RX2
328199,12:133195432:C>T,NM_170683.3:c.30C>T,NP_733783.1:p.Ala10=,1/10,\N,Unknown significance,\N,synonymous_variant,13.35,\N,\N,P2RX2
328200,12:133195433:G>A,NM_170683.3:c.31G>A,NP_733783.1:p.Gly11Arg,1/10,\N,Likely benign,\N,missense_variant,23.4,0.000311915,EXAC_SAS_AF,P2RX2
328201,12:133195435:G>A,NM_170683.3:c.33G>A,NP_733783.1:p.Gly11=,1/10,\N,Unknown significance,\N,synonymous_variant,4.307,0.000238436,EVS_AA_AF,P2RX2
328202,12:133195436:G>A,NM_012226.3:c.34G>A,NP_036358.2:p.Ala12Thr,1/9,\N,Unknown significance,\N,missense_variant,18.61,0.000286041,EXAC_AMR_AF,P2RX2
328203,12:133195437:C>A,NM_012226.3:c.35C>A,NP_036358.2:p.Ala12Glu,1/9,\N,Likely benign,\N,missense_variant,18.6,\N,\N,P2RX2
328204,12:133195438:G>C,NM_170683.3:c.36G>C,NP_733783.1:p.Ala12=,1/10,\N,Unknown significance,\N,synonymous_variant,8.937,0.0000347464,EXAC_NFE_AF,P2RX2
328205,12:133195441:C>G,NM_170683.3:c.39C>G,NP_733783.1:p.Thr13=,1/10,\N,Unknown significance,\N,synonymous_variant,12.07,0.000224115,EXAC_SAS_AF,P2RX2
328206,12:133195441:C>T,NM_170683.3:c.39C>T,NP_733783.1:p.Thr13=,1/10,\N,Unknown significance,\N,synonymous_variant,14.25,0.000196464,EXAC_AMR_AF,P2RX2
328207,12:133195444:C>T,NM_170683.3:c.42C>T,NP_733783.1:p.Ala14=,1/10,\N,Unknown significance,\N,synonymous_variant,14.05,0.0045156,EXAC_AFR_AF,P2RX2
328208,12:133195449:G>T,NM_170683.3:c.47G>T,NP_733783.1:p.Arg16Leu,1/10,\N,Unknown significance,\N,missense_variant,25.3,0.00012837,EXAC_AMR_AF,P2RX2
328209,12:133195458:G>A,NM_170683.3:c.56G>A,NP_733783.1:p.Arg19Gln,1/10,\N,Likely benign,\N,missense_variant,18.37,0.000118064,EVS_EA_AF,P2RX2
328210,12:133195464:G>A,NM_170683.3:c.62G>A,NP_733783.1:p.Cys21Tyr,1/10,\N,Benign,\N,missense_variant,24.1,0.0225,1KG_SAS_AF,P2RX2
328211,12:133195471:C>T,NM_170683.3:c.69C>T,NP_733783.1:p.Ser23=,1/10,\N,Unknown significance,\N,synonymous_variant,19.91,0.000123335,EXAC_SAS_AF,P2RX2
328212,12:133195472:G>A,NM_170683.3:c.70G>A,NP_733783.1:p.Ala24Thr,1/10,\N,Unknown significance,\N,missense_variant,23.2,\N,\N,P2RX2
328213,12:133195475:C>A,NM_001282164.1:c.73C>A,NP_001269093.1:p.Leu25Ile,1/11,\N,Unknown significance,\N,missense_variant,15.4,0.00012025,EXAC_SAS_AF,P2RX2
328214,12:133195478:T>TG,NM_170683.3:c.79dup,NP_733783.1:p.Asp27GlyfsTer245,1/10,\N,Unknown significance,\N,frameshift_variant,31,0.00159744,EXAC_OTH_AF,P2RX2
328215,12:133195487:G>A,NM_012226.3:c.85G>A,NP_036358.2:p.Glu29Lys,1/9,\N,Unknown significance,\N,missense_variant,24.1,0.000091878,EXAC_AMR_AF,P2RX2
328216,12:133195497:A>G,NM_001282164.1:c.95A>G,NP_001269093.1:p.Lys32Arg,1/11,\N,Unknown significance,\N,missense_variant,23.6,0.000034976,EXAC_NFE_AF,P2RX2
328217,12:133195499:G>A,NM_012226.3:c.97G>A,NP_036358.2:p.Val33Met,1/9,\N,Unknown significance,\N,missense_variant,24.4,\N,\N,P2RX2
328218,12:133195502:A>T,NM_170683.3:c.100A>T,NP_733783.1:p.Ile34Phe,1/10,\N,Unknown significance,\N,missense_variant,24.8,0.000121892,EXAC_AFR_AF,P2RX2
328219,12:133195504:C>T,NM_170683.3:c.102C>T,NP_733783.1:p.Ile34=,1/10,\N,Unknown significance,\N,synonymous_variant,17.04,0.000228102,EVS_AA_AF,P2RX2
328220,12:133195505:G>C,NM_001282164.1:c.103G>C,NP_001269093.1:p.Val35Leu,1/11,\N,Unknown significance,\N,missense_variant,24.4,0.0000347741,EXAC_NFE_AF,P2RX2
328221,12:133195508:G>A,NM_012226.3:c.105+1G>A,\N,\N,1/8,Unknown significance,\N,splice_donor_variant,26.4,0.0000173762,EXAC_NFE_AF,P2RX2
328222,12:133195517:C>A,NM_170683.3:c.115C>A,NP_733783.1:p.Arg39=,1/10,\N,Unknown significance,\N,synonymous_variant,21.2,\N,\N,P2RX2
328223,12:133195520:C>A,NM_170683.3:c.118C>A,NP_733783.1:p.Arg40Ser,1/10,\N,Unknown significance,\N,missense_variant,24.8,0.0000519337,EXAC_NFE_AF,P2RX2
328224,12:133195529:G>A,NM_170683.3:c.127G>A,NP_733783.1:p.Val43Ile,1/10,\N,Likely benign,\N,missense_variant,7.583,0.0000172897,EXAC_NFE_AF,P2RX2
328225,12:133195532:C>T,NM_170683.3:c.130C>T,NP_733783.1:p.Leu44=,1/10,\N,Unknown significance,\N,synonymous_variant,13.87,0.000119589,EXAC_AFR_AF,P2RX2
328226,12:133195536:A>G,NM_170683.3:c.134A>G,NP_733783.1:p.Tyr45Cys,1/10,\N,Unknown significance,\N,missense_variant,25.2,0.0000172992,EXAC_NFE_AF,P2RX2
328227,12:133195537:C>T,NM_170683.3:c.135C>T,NP_733783.1:p.Tyr45=,1/10,\N,Unknown significance,\N,synonymous_variant,10.46,0.0000517777,EXAC_NFE_AF,P2RX2
328228,12:133195538:C>A,NM_170683.3:c.136C>A,NP_733783.1:p.Arg46Ser,1/10,\N,Unknown significance,\N,missense_variant,28.6,0.00011636,EXAC_SAS_AF,P2RX2
328229,12:133195538:C>T,NM_170683.3:c.136C>T,NP_733783.1:p.Arg46Cys,1/10,\N,Unknown significance,\N,missense_variant,31,0.0000173166,EXAC_NFE_AF,P2RX2
328230,12:133195539:G>A,NM_170683.3:c.137G>A,NP_733783.1:p.Arg46His,1/10,\N,Unknown significance,\N,missense_variant,32,0.000017261,EXAC_NFE_AF,P2RX2
328231,12:133195540:C>T,NM_170683.3:c.138C>T,NP_733783.1:p.Arg46=,1/10,\N,Unknown significance,\N,synonymous_variant,16.98,0.0000346765,EXAC_NFE_AF,P2RX2
328232,12:133195543:C>G,NM_170683.3:c.141C>G,NP_733783.1:p.Ala47=,1/10,\N,Unknown significance,\N,synonymous_variant,14.33,0.000034715,EXAC_NFE_AF,P2RX2
328233,12:133195543:C>T,NM_170683.3:c.141C>T,NP_733783.1:p.Ala47=,1/10,\N,Unknown significance,\N,synonymous_variant,17.6,0.0000173575,EXAC_NFE_AF,P2RX2
328234,12:133195562:CTCTACTTCGTG>C,NM_170683.3:c.162_172del,NP_733783.1:p.Tyr55ValfsTer213,1/10,\N,Unknown significance,\N,frameshift_variant&splice_region_variant,34,\N,\N,P2RX2
328235,12:133195563:T>A,NM_001282164.1:c.161T>A,NP_001269093.1:p.Leu54His,1/11,\N,Unknown significance,\N,missense_variant,23.9,0.0000177809,EXAC_NFE_AF,P2RX2
328236,12:133195564:C>CCA,NM_170683.3:c.162_163insCA,NP_733783.1:p.Tyr55HisfsTer46,1/10,\N,Unknown significance,\N,frameshift_variant,32,0.000017328,EXAC_NFE_AF,P2RX2
328237,12:133195568:T>C,NM_001282164.1:c.166T>C,NP_001269093.1:p.Phe56Leu,1/11,\N,Unknown significance,\N,missense_variant,22.8,0.0000173702,EXAC_NFE_AF,P2RX2
328238,12:133195577:TGCGCGGGGCGCGGGGTGCGGG>T,NM_170683.3:c.173+11_173+31del,\N,\N,1/9,Unknown significance,\N,splice_region_variant&intron_variant,13.77,\N,\N,P2RX2
328239,12:133195578:G>T,NM_170683.3:c.173+3G>T,\N,\N,1/9,Unknown significance,\N,splice_region_variant&intron_variant,11.68,0.001,1KG_EAS_AF,P2RX2
328240,12:133195579:CGCGGGGCGCGGGGT>C,NM_170683.3:c.173+28_173+41del,\N,\N,1/9,Benign,\N,splice_region_variant&intron_variant,12.07,0.875165,EXAC_AFR_AF,P2RX2
328241,12:133195584:GGCGCGGGGTGCGGGGC>G,NM_170683.3:c.173+13_173+28del,\N,\N,1/9,Unknown significance,\N,intron_variant,10.41,\N,\N,P2RX2
328242,12:133195585:G>A,NM_170683.3:c.173+10G>A,\N,\N,1/9,Unknown significance,\N,intron_variant,9.518,0.00102459,EXAC_SAS_AF,P2RX2
328243,12:133195586:CGCGGGGTGCGGGGCGCGGGGT>C,NM_170683.3:c.173+18_173+38del,\N,\N,1/9,Unknown significance,\N,intron_variant,9.323,\N,\N,P2RX2
328244,12:133195588:CG>C,NM_170683.3:c.173+17del,\N,\N,1/9,Unknown significance,\N,intron_variant,9.534,0.00337838,EXAC_AMR_AF,P2RX2
328245,12:133195589:GGGGT>G,NM_170683.3:c.173+16_173+19del,\N,\N,1/9,Unknown significance,\N,intron_variant,7.014,\N,\N,P2RX2
328246,12:133195591:GGT>G,NM_170683.3:c.173+18_173+19del,\N,\N,1/9,Benign,\N,intron_variant,6.982,0.00561798,EXAC_EAS_AF,P2RX2
328247,12:133195593:TGCGGGGC>T,NM_170683.3:c.173+25_173+31del,\N,\N,1/9,Unknown significance,\N,intron_variant,\N,\N,\N,P2RX2
328248,12:133195593:TGCGGGGCGCGGGG>T,NM_170683.3:c.173+19_173+31del,\N,\N,1/9,Unknown significance,\N,intron_variant,7.888,\N,\N,P2RX2
328249,12:133195595:CGGGGCGCGGG>C,NM_170683.3:c.173+22_173+31del,\N,\N,1/9,Unknown significance,\N,intron_variant,\N,0,EXAC_ALL_AF|EXAC_AFR_AF|EXAC_AMR_AF|EXAC_EAS_AF|EXAC_FIN_AF|EXAC_NFE_AF|EXAC_OTH_AF|EXAC_SAS_AF,P2RX2
328250,12:133195595:CGGGGCGCGGGGT>C,NM_170683.3:c.173+22_173+33del,\N,\N,1/9,Unknown significance,\N,intron_variant,7.954,0.000153988,EXAC_EAS_AF,P2RX2
328251,12:133195596:G>A,NM_170683.3:c.173+21G>A,\N,\N,1/9,Unknown significance,\N,intron_variant,7.839,0.000153941,EXAC_EAS_AF,P2RX2
328252,12:133195598:G>A,NM_170683.3:c.173+23G>A,\N,\N,1/9,Unknown significance,\N,intron_variant,6.622,0.000026837,EXAC_NFE_AF,P2RX2
328253,12:133195600:C>A,NM_170683.3:c.173+25C>A,\N,\N,1/9,Unknown significance,\N,intron_variant,7.911,\N,\N,P2RX2
328254,12:133195600:C>CAA,NM_170683.3:c.173+25_173+26insAA,\N,\N,1/9,Unknown significance,\N,intron_variant,8.609,\N,\N,P2RX2
328255,12:133195600:CGCGGGGT>C,NM_170683.3:c.173+32_173+38del,\N,\N,1/9,Unknown significance,\N,intron_variant,5.435,\N,\N,P2RX2
328256,12:133195602:C>CA,NM_170683.3:c.173+27_173+28insA,\N,\N,1/9,Unknown significance,\N,intron_variant,7.8,\N,\N,P2RX2
328257,12:133195607:TGCGGGGC>T,NM_170683.3:c.173+35_173+41del,\N,\N,1/9,Unknown significance,\N,intron_variant,7.103,\N,\N,P2RX2
328258,12:133195609:C>A,NM_170683.3:c.173+34C>A,\N,\N,1/9,Unknown significance,\N,intron_variant,4.775,\N,\N,P2RX2
328259,12:133195610:G>GGGGCGCA,NM_170683.3:c.173+39_173+45dup,\N,\N,1/9,Unknown significance,\N,intron_variant,5.069,\N,\N,P2RX2
328260,12:133195614:C>A,NM_170683.3:c.173+39C>A,\N,\N,1/9,Unknown significance,\N,intron_variant,5.818,\N,\N,P2RX2
328261,12:133195618:G>A,NM_170683.3:c.173+43G>A,\N,\N,1/9,Unknown significance,\N,intron_variant,4.847,0.000033627,EXAC_NFE_AF,P2RX2
328262,12:133195622:AGGGGCTG>A,NM_170683.3:c.173+50_173+56del,\N,\N,1/9,Unknown significance,\N,intron_variant,3.217,0.0000347246,EXAC_NFE_AF,P2RX2
328263,12:133195625:G>A,NM_170683.3:c.173+50G>A,\N,\N,1/9,Benign,\N,intron_variant,0.995,0.953549,EXAC_AMR_AF,P2RX2
328264,12:133195633:T>C,NM_170683.3:c.173+58T>C,\N,\N,1/9,Unknown significance,\N,intron_variant,0.385,0.0008,1KG_AFR_AF,P2RX2
328265,12:133195655:G>A,NM_170683.3:c.173+80G>A,\N,\N,1/9,Benign,\N,intron_variant,4.088,0.0113,1KG_AFR_AF,P2RX2
328266,12:133195711:C>T,NM_170683.3:c.173+136C>T,\N,\N,1/9,Unknown significance,\N,intron_variant,3.072,\N,\N,P2RX2
328267,12:133195712:C>T,NM_170683.3:c.173+137C>T,\N,\N,1/9,Unknown significance,\N,intron_variant,3.535,\N,\N,P2RX2
328268,12:133195737:T>C,NM_170683.3:c.173+162T>C,\N,\N,1/9,Unknown significance,\N,intron_variant,2.836,\N,\N,P2RX2
328269,12:133195746:C>T,NM_170683.3:c.173+171C>T,\N,\N,1/9,Unknown significance,\N,intron_variant,3.417,\N,\N,P2RX2
328270,12:133195772:T>C,NM_170683.3:c.173+197T>C,\N,\N,1/9,Unknown significance,\N,intron_variant,1.817,\N,\N,P2RX2
328271,12:133195812:C>T,NM_170683.3:c.174-213C>T,\N,\N,1/9,Unknown significance,\N,intron_variant,0.624,\N,\N,P2RX2
328272,12:133195935:C>A,NM_170683.3:c.174-90C>A,\N,\N,1/9,Unknown significance,\N,intron_variant,4.455,0.000100261,EXAC_AMR_AF,P2RX2
328273,12:133195935:C>T,NM_170683.3:c.174-90C>T,\N,\N,1/9,Unknown significance,\N,intron_variant,2.993,0.00013598,EXAC_EAS_AF,P2RX2
328274,12:133195936:C>G,NM_170683.3:c.174-89C>G,\N,\N,1/9,Unknown significance,\N,intron_variant,4.08,0.000137024,EXAC_EAS_AF,P2RX2
328275,12:133195939:G>A,NM_170683.3:c.174-86G>A,\N,\N,1/9,Unknown significance,\N,intron_variant,3.034,0.000118507,EXAC_NFE_AF,P2RX2
328276,12:133195942:G>A,NM_170683.3:c.174-83G>A,\N,\N,1/9,Unknown significance,\N,intron_variant,3.589,0.0000197161,EXAC_NFE_AF,P2RX2
328277,12:133195952:C>T,NM_170683.3:c.174-73C>T,\N,\N,1/9,Unknown significance,\N,intron_variant,6.945,0.000146199,EXAC_AFR_AF,P2RX2
328278,12:133195954:C>T,NM_170683.3:c.174-71C>T,\N,\N,1/9,Unknown significance,\N,intron_variant,2.215,0.000288351,EXAC_AFR_AF,P2RX2
328279,12:133195956:G>A,NM_170683.3:c.174-69G>A,\N,\N,1/9,Unknown significance,\N,intron_variant,5.043,0.000389206,EXAC_EAS_AF,P2RX2
328280,12:133195958:C>G,NM_170683.3:c.174-67C>G,\N,\N,1/9,Unknown significance,\N,intron_variant,7.594,0.0000184135,EXAC_NFE_AF,P2RX2
328281,12:133195966:C>T,NM_170683.3:c.174-59C>T,\N,\N,1/9,Unknown significance,\N,intron_variant,9.913,0.00113436,EXAC_EAS_AF,P2RX2
328282,12:133195967:G>T,NM_170683.3:c.174-58G>T,\N,\N,1/9,Unknown significance,\N,intron_variant,9.238,0.000152835,EXAC_SAS_AF,P2RX2
328283,12:133195971:G>A,NM_170683.3:c.174-54G>A,\N,\N,1/9,Unknown significance,\N,intron_variant,10.28,\N,\N,P2RX2
328284,12:133195978:A>G,NM_170683.3:c.174-47A>G,\N,\N,1/9,Unknown significance,\N,intron_variant,9.613,0.0000675539,EXAC_NFE_AF,P2RX2
328285,12:133195989:G>T,NM_170683.3:c.174-36G>T,\N,\N,1/9,Unknown significance,\N,intron_variant,11.98,0.000116904,EXAC_AFR_AF,P2RX2
328286,12:133196003:C>G,NM_170683.3:c.174-22C>G,\N,\N,1/9,Unknown significance,\N,intron_variant,11.94,\N,\N,P2RX2
328287,12:133196005:G>A,NM_170683.3:c.174-20G>A,\N,\N,1/9,Unknown significance,\N,intron_variant,10.81,0.0000160031,EXAC_NFE_AF,P2RX2
328288,12:133196006:G>A,NM_170683.3:c.174-19G>A,\N,\N,1/9,Unknown significance,\N,intron_variant,10.28,0.0000159908,EXAC_NFE_AF,P2RX2
328289,12:133196008:G>A,NM_170683.3:c.174-17G>A,\N,\N,1/9,Unknown significance,\N,intron_variant,10.56,0.001,1KG_EUR_AF,P2RX2
328290,12:133196011:G>A,NM_170683.3:c.174-14G>A,\N,\N,1/9,Unknown significance,\N,intron_variant,9.54,0.00136302,EVS_AA_AF,P2RX2
328291,12:133196019:C>G,NM_170683.3:c.174-6C>G,\N,\N,1/9,Unknown significance,\N,splice_region_variant&intron_variant,12.71,0.000119048,EXAC_EAS_AF,P2RX2
328292,12:133196020:C>G,NM_170683.3:c.174-5C>G,\N,\N,1/9,Unknown significance,\N,splice_region_variant&intron_variant,13.08,0.0000315676,EXAC_NFE_AF,P2RX2
328293,12:133196021:G>T,NM_170683.3:c.174-4G>T,\N,\N,1/9,Benign,\N,splice_region_variant&intron_variant,11.47,0.0349523,EVS_AA_AF,P2RX2
328294,12:133196029:G>T,NM_170683.3:c.178G>T,NP_733783.1:p.Val60Leu,2/10,\N,Pathogenic,Hearing loss| progressive,missense_variant,28.4,\N,\N,P2RX2
328295,12:133196036:T>C,NM_001282164.1:c.185T>C,NP_001269093.1:p.Ile62Thr,2/11,\N,Unknown significance,\N,missense_variant,26.3,0.0000155545,EXAC_NFE_AF,P2RX2
328296,12:133196037:C>T,NM_012226.3:c.118C>T,NP_036358.2:p.Arg40Cys,2/9,\N,Benign,\N,missense_variant,18.38,0.0154651,EVS_EA_AF,P2RX2
328297,12:133196053:C>G,NM_170683.3:c.202C>G,NP_733783.1:p.Gln68Glu,2/10,\N,Unknown significance,\N,missense_variant,25.9,0.0000608717,EXAC_SAS_AF,P2RX2
328298,12:133196057:A>G,NM_001282164.1:c.206A>G,NP_001269093.1:p.Glu69Gly,2/11,\N,Unknown significance,\N,missense_variant,24.7,0.000015424,EXAC_NFE_AF,P2RX2
328299,12:133196062:G>A,NM_170683.3:c.211G>A,NP_733783.1:p.Glu71Lys,2/10,\N,Unknown significance,\N,missense_variant,34,0.00340909,EXAC_OTH_AF,P2RX2
328300,12:133196066:C>T,NM_170683.3:c.215C>T,NP_733783.1:p.Thr72Met,2/10,\N,Unknown significance,\N,missense_variant,33,0.0000154022,EXAC_NFE_AF,P2RX2
328301,12:133196073:C>T,NM_012226.3:c.154C>T,NP_036358.2:p.Arg52Ter,2/9,\N,Unknown significance,\N,stop_gained,17.02,0.000116279,EVS_EA_AF,P2RX2
328302,12:133196074:G>A,NM_170683.3:c.223G>A,NP_733783.1:p.Glu75Lys,2/10,\N,Unknown significance,\N,missense_variant,27.7,0.000398724,EXAC_AFR_AF,P2RX2
328303,12:133196093:A>G,NM_170683.3:c.242A>G,NP_733783.1:p.Lys81Arg,2/10,\N,Unknown significance,\N,missense_variant,24.3,0.0000153889,EXAC_NFE_AF,P2RX2
328304,12:133196098:A>G,NM_170683.3:c.247A>G,NP_733783.1:p.Lys83Glu,2/10,\N,Unknown significance,\N,missense_variant,28.5,0.0000153965,EXAC_NFE_AF,P2RX2
328305,12:133196115:C>T,NM_012226.3:c.196C>T,NP_036358.2:p.Arg66Ter,2/9,\N,Unknown significance,\N,stop_gained,16.59,0.0000154545,EXAC_NFE_AF,P2RX2
328306,12:133196116:G>A,NM_170683.3:c.265G>A,NP_733783.1:p.Glu89Lys,2/10,\N,Likely benign,\N,missense_variant,22.4,0.0000154607,EXAC_NFE_AF,P2RX2
328307,12:133196124:A>C,NM_170683.3:c.273A>C,NP_733783.1:p.Lys91Asn,2/10,\N,Unknown significance,\N,missense_variant,25.1,0.0000154971,EXAC_NFE_AF,P2RX2
328308,12:133196134:G>A,NM_170683.3:c.283G>A,NP_733783.1:p.Val95Met,2/10,\N,Unknown significance,\N,missense_variant,27.4,0.000116279,EVS_EA_AF,P2RX2
328309,12:133196136:G>C,NM_012226.3:c.217G>C,NP_036358.2:p.Gly73Arg,2/9,\N,Unknown significance,\N,missense_variant,6.631,0.0000613497,EXAC_SAS_AF,P2RX2
328310,12:133196137:G>A,NM_170683.3:c.286G>A,NP_733783.1:p.Glu96Lys,2/10,\N,Unknown significance,\N,missense_variant,24.4,0.0000155792,EXAC_NFE_AF,P2RX2
328311,12:133196137:G>C,NM_170683.3:c.286G>C,NP_733783.1:p.Glu96Gln,2/10,\N,Unknown significance,\N,missense_variant,24.5,\N,\N,P2RX2
328312,12:133196139:G>A,NM_012226.3:c.220G>A,NP_036358.2:p.Gly74Arg,2/9,\N,Likely benign,\N,missense_variant,7.398,0.0000155953,EXAC_NFE_AF,P2RX2
328313,12:133196145:C>A,NM_170683.3:c.294C>A,NP_733783.1:p.Tyr98Ter,2/10,\N,Likely benign,\N,stop_gained,35,0.0000470529,EXAC_NFE_AF,P2RX2
328314,12:133196145:C>T,NM_012226.3:c.226C>T,NP_036358.2:p.Arg76Cys,2/9,\N,Likely benign,\N,missense_variant,9.51,0.000116279,EVS_EA_AF,P2RX2
328315,12:133196152:C>T,NM_170683.3:c.301C>T,NP_733783.1:p.Pro101Ser,2/10,\N,Unknown significance,\N,missense_variant,25.9,0.000118652,EXAC_EAS_AF,P2RX2
328316,12:133196153:C>T,NM_170683.3:c.302C>T,NP_733783.1:p.Pro101Leu,2/10,\N,Unknown significance,\N,missense_variant,28.3,0.000176305,EXAC_AMR_AF,P2RX2
328317,12:133196156:C>T,NM_170683.3:c.305C>T,NP_733783.1:p.Pro102Leu,2/10,\N,Unknown significance,\N,missense_variant,26.2,0.000104998,EXAC_AFR_AF,P2RX2
328318,12:133196157:C>G,NM_012226.3:c.238C>G,NP_036358.2:p.Arg80Gly,2/9,\N,Likely benign,\N,missense_variant,7.511,\N,\N,P2RX2
328319,12:133196164:CGG>C,NM_170683.3:c.309+6_309+7del,\N,\N,2/9,Unknown significance,\N,splice_region_variant&intron_variant,8.105,\N,\N,P2RX2
328320,12:133196165:G>T,NM_170683.3:c.309+5G>T,\N,\N,2/9,Unknown significance,\N,splice_region_variant&intron_variant,7.374,0.000780031,EXAC_FIN_AF,P2RX2
328321,12:133196170:GC>G,NM_170683.3:c.309+15del,\N,\N,2/9,Unknown significance,\N,intron_variant,6.565,0.0000168039,EXAC_NFE_AF,P2RX2
328322,12:133196171:C>T,NM_170683.3:c.309+11C>T,\N,\N,2/9,Unknown significance,\N,intron_variant,7.581,0.0029,1KG_AMR_AF,P2RX2
328323,12:133196176:T>A,NM_170683.3:c.309+16T>A,\N,\N,2/9,Unknown significance,\N,intron_variant,12.07,0.000122369,EXAC_EAS_AF,P2RX2
328324,12:133196177:GC>G,NM_170683.3:c.309+23del,\N,\N,2/9,Unknown significance,\N,intron_variant,11.58,0.0000652146,EXAC_SAS_AF,P2RX2
328325,12:133196179:C>A,NM_170683.3:c.309+19C>A,\N,\N,2/9,Unknown significance,\N,intron_variant,12.76,0.0000650872,EXAC_SAS_AF,P2RX2
328326,12:133196179:C>CCCCCG,NM_170683.3:c.309+27_309+31dup,\N,\N,2/9,Unknown significance,\N,intron_variant,12.61,0.0000172718,EXAC_NFE_AF,P2RX2
328327,12:133196179:C>T,NM_170683.3:c.309+19C>T,\N,\N,2/9,Unknown significance,\N,intron_variant,12.63,0.001,1KG_EAS_AF,P2RX2
328328,12:133196183:C>A,NM_170683.3:c.309+23C>A,\N,\N,2/9,Unknown significance,\N,intron_variant,11.26,0.000181357,EXAC_AMR_AF,P2RX2
328329,12:133196183:C>T,NM_170683.3:c.309+23C>T,\N,\N,2/9,Unknown significance,\N,intron_variant,10.94,0.0015,1KG_AFR_AF,P2RX2
328330,12:133196188:C>T,NM_170683.3:c.309+28C>T,\N,\N,2/9,Benign,\N,intron_variant,8.646,0.0499,1KG_AFR_AF,P2RX2
328331,12:133196192:G>A,NM_170683.3:c.309+32G>A,\N,\N,2/9,Unknown significance,\N,intron_variant,7.328,0.0012987,EXAC_OTH_AF,P2RX2
328332,12:133196193:T>A,NM_170683.3:c.309+33T>A,\N,\N,2/9,Unknown significance,\N,intron_variant,4.683,0.0000664099,EXAC_SAS_AF,P2RX2
328333,12:133196194:G>A,NM_170683.3:c.309+34G>A,\N,\N,2/9,Unknown significance,\N,intron_variant,3.312,0.000133103,EXAC_SAS_AF,P2RX2
328334,12:133196197:C>T,NM_170683.3:c.309+37C>T,\N,\N,2/9,Unknown significance,\N,intron_variant,5.185,0.0000527797,EXAC_NFE_AF,P2RX2
328335,12:133196200:T>TA,NM_170683.3:c.309+41dup,\N,\N,2/9,Unknown significance,\N,intron_variant,1.5,0.0000880902,EXAC_NFE_AF,P2RX2
328336,12:133196201:AC>A,NM_170683.3:c.309+44del,\N,\N,2/9,Unknown significance,\N,intron_variant,2.183,0.000373785,EXAC_EAS_AF,P2RX2
328337,12:133196204:C>G,NM_170683.3:c.309+44C>G,\N,\N,2/9,Unknown significance,\N,intron_variant,4.414,0.000135245,EXAC_SAS_AF,P2RX2
328338,12:133196212:C>A,NM_170683.3:c.309+52C>A,\N,\N,2/9,Unknown significance,\N,intron_variant,7.327,0.000267523,EXAC_AFR_AF,P2RX2
328339,12:133196214:G>A,NM_170683.3:c.310-51G>A,\N,\N,2/9,Unknown significance,\N,intron_variant,2.767,0.0000176872,EXAC_NFE_AF,P2RX2
328340,12:133196224:C>T,NM_170683.3:c.310-41C>T,\N,\N,2/9,Unknown significance,\N,intron_variant,6.262,0.000018303,EXAC_NFE_AF,P2RX2
328341,12:133196225:G>A,NM_170683.3:c.310-40G>A,\N,\N,2/9,Unknown significance,\N,intron_variant,4.945,0.0001374,EXAC_AFR_AF,P2RX2
328342,12:133196230:C>G,NM_170683.3:c.310-35C>G,\N,\N,2/9,Unknown significance,\N,intron_variant,3.734,\N,\N,P2RX2
328343,12:133196231:C>A,NM_170683.3:c.310-34C>A,\N,\N,2/9,Unknown significance,\N,intron_variant,8.967,0.000237869,EVS_AA_AF,P2RX2
328344,12:133196231:C>G,NM_170683.3:c.310-34C>G,\N,\N,2/9,Unknown significance,\N,intron_variant,6.904,0.0000182688,EXAC_NFE_AF,P2RX2
328345,12:133196231:C>T,NM_170683.3:c.310-34C>T,\N,\N,2/9,Unknown significance,\N,intron_variant,8.765,0.0000182688,EXAC_NFE_AF,P2RX2
328346,12:133196236:G>A,NM_170683.3:c.310-29G>A,\N,\N,2/9,Unknown significance,\N,intron_variant,3.855,0.0000548246,EXAC_NFE_AF,P2RX2
328347,12:133196238:C>T,NM_170683.3:c.310-27C>T,\N,\N,2/9,Unknown significance,\N,intron_variant,8.221,0.0000920641,EXAC_AMR_AF,P2RX2
328348,12:133196239:C>T,NM_170683.3:c.310-26C>T,\N,\N,2/9,Unknown significance,\N,intron_variant,7.702,\N,\N,P2RX2
328349,12:133196243:C>T,NM_170683.3:c.310-22C>T,\N,\N,2/9,Unknown significance,\N,intron_variant,7.852,0.000137514,EXAC_AFR_AF,P2RX2
328350,12:133196244:G>A,NM_170683.3:c.310-21G>A,\N,\N,2/9,Unknown significance,\N,intron_variant,2.192,0.000145688,EXAC_NFE_AF,P2RX2
328351,12:133196245:C>T,NM_170683.3:c.310-20C>T,\N,\N,2/9,Unknown significance,\N,intron_variant,5.416,0.0000363148,EXAC_NFE_AF,P2RX2
328352,12:133196248:C>T,NM_170683.3:c.310-17C>T,\N,\N,2/9,Unknown significance,\N,intron_variant,6.46,0.0000361991,EXAC_NFE_AF,P2RX2
328353,12:133196248:CCT>C,NM_170683.3:c.310-14_310-13del,\N,\N,2/9,Unknown significance,\N,intron_variant,7.904,0.00112867,EXAC_EAS_AF,P2RX2
328354,12:133196250:T>C,NM_170683.3:c.310-15T>C,\N,\N,2/9,Unknown significance,\N,intron_variant,2.709,0.000125345,EXAC_EAS_AF,P2RX2
328355,12:133196251:C>G,NM_170683.3:c.310-14C>G,\N,\N,2/9,Unknown significance,\N,intron_variant,2.487,0.001,1KG_SAS_AF,P2RX2
328356,12:133196256:T>G,NM_170683.3:c.310-9T>G,\N,\N,2/9,Unknown significance,\N,intron_variant,5.64,0.0000179559,EXAC_NFE_AF,P2RX2
328357,12:133196262:CA>C,NM_170683.3:c.310-2del,\N,\N,2/9,Unknown significance,\N,splice_acceptor_variant,17.42,0.0000913576,EXAC_AMR_AF,P2RX2
328358,12:133196263:A>AG,NM_170683.3:c.314dup,NP_733783.1:p.Ser106GlnfsTer166,\N,2/9,Unknown significance,\N,splice_acceptor_variant,14.87,0.0000914077,EXAC_AMR_AF,P2RX2
328359,12:133196263:A>G,NM_170683.3:c.310-2A>G,\N,\N,2/9,Unknown significance,\N,splice_acceptor_variant,13.91,0.002,1KG_SAS_AF,P2RX2
328360,12:133196265:G>C,NM_170683.3:c.310G>C,NP_733783.1:p.Gly104Arg,3/10,\N,Unknown significance,\N,missense_variant&splice_region_variant,24.9,\N,\N,P2RX2
328361,12:133196269:G>A,NM_170683.3:c.314G>A,NP_733783.1:p.Gly105Asp,3/10,\N,Unknown significance,\N,missense_variant,23,0.000273473,EXAC_AMR_AF,P2RX2
328362,12:133196279:C>T,NM_170683.3:c.324C>T,NP_733783.1:p.Phe108=,3/10,\N,Unknown significance,\N,synonymous_variant,11.9,0.0000173605,EXAC_NFE_AF,P2RX2
328363,12:133196281:GCAT>G,NM_170683.3:c.332_334del,NP_733783.1:p.Ile111del,3/10,\N,Unknown significance,\N,inframe_deletion,22,0.0000173509,EXAC_NFE_AF,P2RX2
328364,12:133196293:G>C,NM_170683.3:c.338G>C,NP_733783.1:p.Arg113Thr,3/10,\N,Unknown significance,\N,missense_variant,23.9,0.0000172176,EXAC_NFE_AF,P2RX2
328365,12:133196300:G>T,NM_170683.3:c.345G>T,NP_733783.1:p.Glu115Asp,3/10,\N,Unknown significance,\N,missense_variant,12.78,\N,\N,P2RX2
328366,12:133196301:G>A,NM_170683.3:c.346G>A,NP_733783.1:p.Ala116Thr,3/10,\N,Unknown significance,\N,missense_variant,14.95,0.0000907441,EXAC_AMR_AF,P2RX2
328367,12:133196306:C>T,NM_170683.3:c.351C>T,NP_733783.1:p.Thr117=,3/10,\N,Unknown significance,\N,synonymous_variant,11.63,0.000227998,EVS_AA_AF,P2RX2
328368,12:133196319:C>T,NM_170683.3:c.364C>T,NP_733783.1:p.Gln122Ter,3/10,\N,Unknown significance,\N,stop_gained,35,0.0000171391,EXAC_NFE_AF,P2RX2
328369,12:133196338:T>C,NM_170683.3:c.381+2T>C,\N,\N,3/9,Unknown significance,\N,splice_donor_variant,22.1,0.001,1KG_EUR_AF,P2RX2
328370,12:133196339:G>A,NM_170683.3:c.381+3G>A,\N,\N,3/9,Unknown significance,\N,splice_region_variant&intron_variant,10.35,0.0000173328,EXAC_NFE_AF,P2RX2
328371,12:133196352:G>A,NM_170683.3:c.381+16G>A,\N,\N,3/9,Unknown significance,\N,intron_variant,6.885,0.000231054,EVS_AA_AF,P2RX2
328372,12:133196361:G>A,NM_170683.3:c.381+25G>A,\N,\N,3/9,Unknown significance,\N,intron_variant,8.237,0.0000177987,EXAC_NFE_AF,P2RX2
328373,12:133196367:C>T,NM_170683.3:c.381+31C>T,\N,\N,3/9,Unknown significance,\N,intron_variant,8.468,0.000697156,EXAC_AFR_AF,P2RX2
328374,12:133196375:C>T,NM_170683.3:c.381+39C>T,\N,\N,3/9,Unknown significance,\N,intron_variant,7.337,0.0003884,EXAC_EAS_AF,P2RX2
328375,12:133196381:G>T,NM_170683.3:c.381+45G>T,\N,\N,3/9,Unknown significance,\N,intron_variant,2.538,0.000130941,EXAC_SAS_AF,P2RX2
328376,12:133196398:C>G,NM_170683.3:c.382-32C>G,\N,\N,3/9,Unknown significance,\N,intron_variant,1.11,0.000131406,EXAC_EAS_AF,P2RX2
328377,12:133196399:G>A,NM_170683.3:c.382-31G>A,\N,\N,3/9,Unknown significance,\N,intron_variant,6.446,0.000096918,EXAC_AMR_AF,P2RX2
328378,12:133196400:G>A,NM_170683.3:c.382-30G>A,\N,\N,3/9,Unknown significance,\N,intron_variant,3.869,0.0000181917,EXAC_NFE_AF,P2RX2
328379,12:133196406:C>G,NM_170683.3:c.382-24C>G,\N,\N,3/9,Unknown significance,\N,intron_variant,6.129,0.000132188,EXAC_SAS_AF,P2RX2
328380,12:133196409:A>C,NM_170683.3:c.382-21A>C,\N,\N,3/9,Unknown significance,\N,intron_variant,4.043,0.0000181884,EXAC_NFE_AF,P2RX2
328381,12:133196414:G>A,NM_170683.3:c.382-16G>A,\N,\N,3/9,Unknown significance,\N,intron_variant,6.005,0.000018197,EXAC_NFE_AF,P2RX2
328382,12:133196416:C>T,NM_170683.3:c.382-14C>T,\N,\N,3/9,Unknown significance,\N,intron_variant,8.691,0.004,1KG_EUR_AF,P2RX2
328383,12:133196418:C>T,NM_170683.3:c.382-12C>T,\N,\N,3/9,Unknown significance,\N,intron_variant,6.385,0.0000362122,EXAC_NFE_AF,P2RX2
328384,12:133196425:C>T,NM_170683.3:c.382-5C>T,\N,\N,3/9,Unknown significance,\N,splice_region_variant&intron_variant,6.733,0.0000539801,EXAC_NFE_AF,P2RX2
328385,12:133196435:A>G,NM_170683.3:c.387A>G,NP_733783.1:p.Ile129Met,4/10,\N,Likely benign,\N,missense_variant,0.005,0.000017909,EXAC_NFE_AF,P2RX2
328386,12:133196438:G>T,NM_174872.1:c.114G>T,NP_777361.1:p.Arg38Ser,2/9,\N,Likely benign,\N,missense_variant,0.003,\N,\N,P2RX2
328387,12:133196440:T>C,NM_001282164.1:c.320T>C,NP_001269093.1:p.Val107Ala,3/11,\N,Unknown significance,\N,missense_variant,6.655,\N,\N,P2RX2
328388,12:133196444:C>A,NM_170683.3:c.396C>A,NP_733783.1:p.His132Gln,4/10,\N,Likely benign,\N,missense_variant,5.092,\N,\N,P2RX2
328389,12:133196445:A>G,NM_170683.3:c.397A>G,NP_733783.1:p.Asn133Asp,4/10,\N,Unknown significance,\N,missense_variant,0.014,\N,\N,P2RX2
328390,12:133196446:ACGC>A,NM_170683.3:c.400_402del,NP_733783.1:p.Ala134del,4/10,\N,Unknown significance,\N,inframe_deletion,15.43,0.0000662866,EXAC_SAS_AF,P2RX2
328391,12:133196446:A>C,NM_001282164.1:c.326A>C,NP_001269093.1:p.Asn109Thr,3/11,\N,Unknown significance,\N,missense_variant,0.034,0.0000178629,EXAC_NFE_AF,P2RX2
328392,12:133196447:C>G,NM_001282164.1:c.327C>G,NP_001269093.1:p.Asn109Lys,3/11,\N,Unknown significance,\N,missense_variant,4.019,0.0000178476,EXAC_NFE_AF,P2RX2
328393,12:133196447:C>T,NM_170683.3:c.399C>T,NP_733783.1:p.Asn133=,4/10,\N,Unknown significance,\N,synonymous_variant,8.766,0.001,1KG_EAS_AF,P2RX2
328394,12:133196448:G>C,NM_001282164.1:c.328G>C,NP_001269093.1:p.Ala110Pro,3/11,\N,Unknown significance,\N,missense_variant,23.6,\N,\N,P2RX2
328395,12:133196450:C>CAT,NM_170683.3:c.403_404insTA,NP_733783.1:p.Thr135IlefsTer21,4/10,\N,Unknown significance,\N,frameshift_variant,22.8,0.0000662252,EXAC_SAS_AF,P2RX2
328396,12:133196451:A>C,NM_170683.3:c.403A>C,NP_733783.1:p.Thr135Pro,4/10,\N,Likely benign,\N,missense_variant,1.692,\N,\N,P2RX2
328397,12:133196463:G>A,NM_170683.3:c.415G>A,NP_733783.1:p.Asp139Asn,4/10,\N,Unknown significance,\N,missense_variant,23.1,0.00012566,EXAC_EAS_AF,P2RX2
328398,12:133196472:T>G,NM_001282164.1:c.352T>G,NP_001269093.1:p.Cys118Gly,3/11,\N,Unknown significance,\N,missense_variant,23.5,0.0000174636,EXAC_NFE_AF,P2RX2
328399,12:133196474:C>A,NM_170683.3:c.426C>A,NP_733783.1:p.Cys142Ter,4/10,\N,Benign,\N,stop_gained,23.2,0.0088286,EXAC_FIN_AF,P2RX2
328400,12:133196483:G>A,NM_170683.3:c.435G>A,NP_733783.1:p.Gly145=,4/10,\N,Unknown significance,\N,synonymous_variant,3.578,0.00158156,EXAC_FIN_AF,P2RX2
328401,12:133196492:C>T,NM_170683.3:c.444C>T,NP_733783.1:p.Asp148=,4/10,\N,Unknown significance,\N,synonymous_variant,8.692,0.000116659,EVS_EA_AF,P2RX2
328402,12:133196494:T>C,NM_170683.3:c.446T>C,NP_733783.1:p.Met149Thr,4/10,\N,Unknown significance,\N,missense_variant,0.092,0.000723589,EXAC_FIN_AF,P2RX2
328403,12:133196495:GC>G,NM_170683.3:c.448del,NP_733783.1:p.Leu150TrpfsTer5,4/10,\N,Unknown significance,\N,frameshift_variant,24.1,\N,\N,P2RX2
328404,12:133196509:G>C,NM_170683.3:c.457+4G>C,\N,\N,4/9,Unknown significance,\N,splice_region_variant&intron_variant,5.462,0.0000750413,EXAC_SAS_AF,P2RX2
328405,12:133196512:GT>G,NM_170683.3:c.457+8del,\N,\N,4/9,Unknown significance,\N,splice_region_variant&intron_variant,6.154,\N,\N,P2RX2
328406,12:133196514:G>A,NM_170683.3:c.457+9G>A,\N,\N,4/9,Unknown significance,\N,intron_variant,5.673,0.001,1KG_EAS_AF|1KG_EUR_AF,P2RX2
328407,12:133196514:G>C,NM_170683.3:c.457+9G>C,\N,\N,4/9,Unknown significance,\N,intron_variant,2.602,0.0000777726,EXAC_SAS_AF,P2RX2
328408,12:133196516:G>A,NM_170683.3:c.457+11G>A,\N,\N,4/9,Unknown significance,\N,intron_variant,1.998,0.0000800641,EXAC_SAS_AF,P2RX2
328409,12:133196520:G>C,NM_170683.3:c.457+15G>C,\N,\N,4/9,Unknown significance,\N,intron_variant,1.163,0.0000762118,EXAC_NFE_AF,P2RX2
328410,12:133196524:G>C,NM_170683.3:c.457+19G>C,\N,\N,4/9,Unknown significance,\N,intron_variant,1.948,0.000962464,EXAC_FIN_AF,P2RX2
328411,12:133196525:G>A,NM_170683.3:c.457+20G>A,\N,\N,4/9,Unknown significance,\N,intron_variant,7.671,0.0000279408,EXAC_NFE_AF,P2RX2
328412,12:133196526:G>A,NM_170683.3:c.457+21G>A,\N,\N,4/9,Unknown significance,\N,intron_variant,8.748,0.000232992,EVS_AA_AF,P2RX2
328413,12:133196528:T>TG,NM_170683.3:c.457+26dup,\N,\N,4/9,Unknown significance,\N,intron_variant,4.319,0.0000310463,EXAC_NFE_AF,P2RX2
328414,12:133196534:G>A,NM_170683.3:c.457+29G>A,\N,\N,4/9,Unknown significance,\N,intron_variant,4.416,\N,\N,P2RX2
328415,12:133196535:G>A,NM_170683.3:c.457+30G>A,\N,\N,4/9,Unknown significance,\N,intron_variant,5.038,0,EXAC_ALL_AF|EXAC_AFR_AF|EXAC_AMR_AF|EXAC_EAS_AF|EXAC_FIN_AF|EXAC_NFE_AF|EXAC_OTH_AF|EXAC_SAS_AF,P2RX2
328416,12:133196535:G>T,NM_170683.3:c.457+30G>T,\N,\N,4/9,Unknown significance,\N,intron_variant,3.501,0.001,1KG_SAS_AF,P2RX2
328417,12:133196540:G>T,NM_170683.3:c.457+35G>T,\N,\N,4/9,Unknown significance,\N,intron_variant,2.749,0.000117897,EVS_EA_AF,P2RX2
328418,12:133196550:G>A,NM_170683.3:c.458-36G>A,\N,\N,4/9,Unknown significance,\N,intron_variant,5.961,0.001,1KG_EAS_AF,P2RX2
328419,12:133196550:G>C,NM_170683.3:c.458-36G>C,\N,\N,4/9,Unknown significance,\N,intron_variant,2.941,0.000287026,EXAC_AMR_AF,P2RX2
328420,12:133196556:G>A,NM_170683.3:c.458-30G>A,\N,\N,4/9,Unknown significance,\N,intron_variant,1.868,0.000301023,EXAC_EAS_AF,P2RX2
328421,12:133196557:C>T,NM_170683.3:c.458-29C>T,\N,\N,4/9,Unknown significance,\N,intron_variant,2.547,0.0000423048,EXAC_NFE_AF,P2RX2
328422,12:133196558:T>C,NM_170683.3:c.458-28T>C,\N,\N,4/9,Unknown significance,\N,intron_variant,3.034,0.000105263,EXAC_SAS_AF,P2RX2
328423,12:133196564:C>T,NM_170683.3:c.458-22C>T,\N,\N,4/9,Unknown significance,\N,intron_variant,4.576,0.00026455,EXAC_AFR_AF,P2RX2
328424,12:133196565:T>C,NM_170683.3:c.458-21T>C,\N,\N,4/9,Unknown significance,\N,intron_variant,4.765,0.0000430182,EXAC_NFE_AF,P2RX2
328425,12:133196586:G>T,NM_170683.3:c.458G>T,NP_733783.1:p.Gly153Val,5/10,\N,Unknown significance,\N,missense_variant&splice_region_variant,23.3,\N,\N,P2RX2
328426,12:133196588:C>A,NM_170683.3:c.460C>A,NP_733783.1:p.Leu154Met,5/10,\N,Likely benign,\N,missense_variant&splice_region_variant,0.129,\N,\N,P2RX2
328427,12:133196593:G>A,NM_170683.3:c.465G>A,NP_733783.1:p.Arg155=,5/10,\N,Unknown significance,\N,synonymous_variant,3.145,\N,\N,P2RX2
328428,12:133196594:A>G,NM_012226.3:c.250A>G,NP_036358.2:p.Thr84Ala,3/9,\N,Unknown significance,\N,missense_variant,19.53,0.0000407034,EXAC_NFE_AF,P2RX2
328429,12:133196596:T>A,NM_170683.3:c.468T>A,NP_733783.1:p.Thr156=,5/10,\N,Unknown significance,\N,synonymous_variant,5.242,0.0000293272,EXAC_NFE_AF,P2RX2
328430,12:133196596:T>C,NM_170683.3:c.468T>C,NP_733783.1:p.Thr156=,5/10,\N,Benign,\N,synonymous_variant,0.108,0.8449,1KG_AFR_AF,P2RX2
328431,12:133196597:G>A,NM_170683.3:c.469G>A,NP_733783.1:p.Gly157Arg,5/10,\N,Unknown significance,\N,missense_variant,26.5,0.000954198,EXAC_AMR_AF,P2RX2
328432,12:133196607:T>C,NM_012226.3:c.263T>C,NP_036358.2:p.Val88Ala,3/9,\N,Unknown significance,\N,missense_variant,22.9,0.000330688,EXAC_AMR_AF,P2RX2
328433,12:133196610:C>T,NM_170683.3:c.482C>T,NP_733783.1:p.Pro161Leu,5/10,\N,Unknown significance,\N,missense_variant,25.3,\N,\N,P2RX2
328434,12:133196619:A>G,NM_001282164.1:c.386-2A>G,\N,\N,3/10,Unknown significance,\N,splice_acceptor_variant,15.35,0.002,1KG_EUR_AF,P2RX2
328435,12:133196623:G>A,NM_001282164.1:c.388G>A,NP_001269093.1:p.Ala130Thr,4/11,\N,Likely benign,\N,missense_variant&splice_region_variant,5.447,\N,\N,P2RX2
328436,12:133196626:C>T,NM_001282164.1:c.391C>T,NP_001269093.1:p.Leu131Phe,4/11,\N,Likely benign,\N,missense_variant,12.19,0.0000421053,EXAC_NFE_AF,P2RX2
328437,12:133196629:C>A,NM_001282164.1:c.394C>A,NP_001269093.1:p.Gln132Lys,4/11,\N,Likely benign,\N,missense_variant,14.48,0.001,1KG_EAS_AF,P2RX2
328438,12:133196643:T>C,NM_170683.3:c.515T>C,NP_733783.1:p.Val172Ala,5/10,\N,Unknown significance,\N,missense_variant,24,\N,\N,P2RX2
328439,12:133196647:C>T,NM_001282164.1:c.412C>T,NP_001269093.1:p.Arg138Trp,4/11,\N,Unknown significance,\N,missense_variant,12.21,0.000621504,EXAC_EAS_AF,P2RX2
328440,12:133196659:G>A,NM_001282164.1:c.424G>A,NP_001269093.1:p.Gly142Ser,4/11,\N,Likely benign,\N,missense_variant,10.98,0.000111433,EXAC_SAS_AF,P2RX2
328441,12:133196671:G>A,NM_001282164.1:c.436G>A,NP_001269093.1:p.Gly146Ser,4/11,\N,Likely benign,\N,missense_variant,0.655,0.0000529549,EXAC_NFE_AF,P2RX2
328442,12:133196675:T>C,NM_001282164.1:c.440T>C,NP_001269093.1:p.Leu147Pro,4/11,\N,Unknown significance,\N,missense_variant,15.46,\N,\N,P2RX2
328443,12:133196692:C>T,NM_170683.3:c.554+10C>T,\N,\N,5/9,Unknown significance,\N,intron_variant,7.005,0.0000777847,EXAC_NFE_AF,P2RX2
328444,12:133196693:G>A,NM_170683.3:c.554+11G>A,\N,\N,5/9,Unknown significance,\N,intron_variant,5.011,\N,\N,P2RX2
328445,12:133196694:CCCCGGCCTGGGG>C,NM_170683.3:c.554+16_554+27del,\N,\N,5/9,Unknown significance,\N,intron_variant,1.365,\N,\N,P2RX2
328446,12:133196695:C>G,NM_170683.3:c.554+13C>G,\N,\N,5/9,Unknown significance,\N,intron_variant,0.857,0.0000796432,EXAC_NFE_AF,P2RX2
328447,12:133196696:C>A,NM_170683.3:c.554+14C>A,\N,\N,5/9,Benign,\N,intron_variant,5.644,0.0478261,EXAC_OTH_AF,P2RX2
328448,12:133196700:CCTGGGGCCCAGCCTCCCCT>C,NM_170683.3:c.554+22_554+40del,\N,\N,5/9,Unknown significance,\N,intron_variant,1.591,\N,\N,P2RX2
328449,12:133196702:T>C,NM_170683.3:c.554+20T>C,\N,\N,5/9,Unknown significance,\N,intron_variant,1.423,0.00414079,EXAC_AMR_AF,P2RX2
328450,12:133196704:G>A,NM_170683.3:c.554+22G>A,\N,\N,5/9,Benign,\N,intron_variant,2.702,0.00558187,EXAC_NFE_AF,P2RX2
328451,12:133196709:C>T,NM_170683.3:c.554+27C>T,\N,\N,5/9,Unknown significance,\N,intron_variant,5.996,\N,\N,P2RX2
328452,12:133196713:C>T,NM_170683.3:c.554+31C>T,\N,\N,5/9,Unknown significance,\N,intron_variant,3.529,0.000172473,EXAC_NFE_AF,P2RX2
328453,12:133196726:C>A,NM_170683.3:c.554+44C>A,\N,\N,5/9,Unknown significance,\N,intron_variant,5.638,0,EXAC_ALL_AF|EXAC_AFR_AF|EXAC_AMR_AF|EXAC_EAS_AF|EXAC_FIN_AF|EXAC_NFE_AF|EXAC_OTH_AF|EXAC_SAS_AF,P2RX2
328454,12:133196726:C>G,NM_170683.3:c.554+44C>G,\N,\N,5/9,Unknown significance,\N,intron_variant,2.826,0.000136799,EXAC_SAS_AF,P2RX2
328455,12:133196727:T>C,NM_170683.3:c.554+45T>C,\N,\N,5/9,Unknown significance,\N,intron_variant,0.673,\N,\N,P2RX2
328456,12:133196730:T>C,NM_170683.3:c.554+48T>C,\N,\N,5/9,Benign,\N,intron_variant,0.676,0.0104117,EXAC_NFE_AF,P2RX2
328457,12:133196731:C>T,NM_170683.3:c.554+49C>T,\N,\N,5/9,Unknown significance,\N,intron_variant,0.745,\N,\N,P2RX2
328458,12:133196733:C>T,NM_170683.3:c.554+51C>T,\N,\N,5/9,Benign,\N,intron_variant,4.585,0.8411,1KG_AFR_AF,P2RX2
328459,12:133196738:C>T,NM_170683.3:c.554+56C>T,\N,\N,5/9,Unknown significance,\N,intron_variant,6.188,0.0015,1KG_AFR_AF,P2RX2
328460,12:133196755:G>A,NM_170683.3:c.554+73G>A,\N,\N,5/9,Unknown significance,\N,intron_variant,4.296,0.0015,1KG_AFR_AF,P2RX2
328461,12:133196773:T>G,NM_170683.3:c.555-80T>G,\N,\N,5/9,Benign,\N,intron_variant,3.465,0.8427,1KG_AFR_AF,P2RX2
328462,12:133196781:G>A,NM_170683.3:c.555-72G>A,\N,\N,5/9,Unknown significance,\N,intron_variant,2.621,0.0023,1KG_AFR_AF,P2RX2
328463,12:133196802:C>T,NM_170683.3:c.555-51C>T,\N,\N,5/9,Unknown significance,\N,intron_variant,1.223,0.000154273,EXAC_FIN_AF,P2RX2
328464,12:133196804:G>C,NM_170683.3:c.555-49G>C,\N,\N,5/9,Unknown significance,\N,intron_variant,1.258,0.0000152746,EXAC_NFE_AF,P2RX2
328465,12:133196806:G>A,NM_170683.3:c.555-47G>A,\N,\N,5/9,Unknown significance,\N,intron_variant,0.539,0.0000305008,EXAC_NFE_AF,P2RX2
328466,12:133196809:T>A,NM_170683.3:c.555-44T>A,\N,\N,5/9,Unknown significance,\N,intron_variant,2.414,0.0000152402,EXAC_NFE_AF,P2RX2
328467,12:133196813:C>T,NM_170683.3:c.555-40C>T,\N,\N,5/9,Unknown significance,\N,intron_variant,5.628,0.000226963,EVS_AA_AF,P2RX2
328468,12:133196814:G>A,NM_170683.3:c.555-39G>A,\N,\N,5/9,Unknown significance,\N,intron_variant,6.344,0.000030434,EXAC_NFE_AF,P2RX2
328469,12:133196814:G>C,NM_170683.3:c.555-39G>C,\N,\N,5/9,Unknown significance,\N,intron_variant,3.084,0.000122369,EXAC_SAS_AF,P2RX2
328470,12:133196816:G>T,NM_170683.3:c.555-37G>T,\N,\N,5/9,Unknown significance,\N,intron_variant,2.547,0.0000997208,EXAC_AFR_AF,P2RX2
328471,12:133196824:G>A,NM_170683.3:c.555-29G>A,\N,\N,5/9,Unknown significance,\N,intron_variant,1.436,\N,\N,P2RX2
328472,12:133196824:G>C,NM_170683.3:c.555-29G>C,\N,\N,5/9,Unknown significance,\N,intron_variant,0.303,0.0000151172,EXAC_NFE_AF,P2RX2
328473,12:133196825:A>T,NM_170683.3:c.555-28A>T,\N,\N,5/9,Unknown significance,\N,intron_variant,0.997,0.000260417,EXAC_AMR_AF,P2RX2
328474,12:133196832:A>G,NM_170683.3:c.555-21A>G,\N,\N,5/9,Unknown significance,\N,intron_variant,0.651,0.0000150711,EXAC_NFE_AF,P2RX2
328475,12:133196833:A>G,NM_170683.3:c.555-20A>G,\N,\N,5/9,Unknown significance,\N,intron_variant,6.693,0.000226963,EVS_AA_AF,P2RX2
328476,12:133196836:C>T,NM_170683.3:c.555-17C>T,\N,\N,5/9,Unknown significance,\N,intron_variant,4.859,0.001,1KG_SAS_AF,P2RX2
328477,12:133196839:C>T,NM_170683.3:c.555-14C>T,\N,\N,5/9,Unknown significance,\N,intron_variant,7.009,0.00115741,EXAC_EAS_AF,P2RX2
328478,12:133196843:G>A,NM_170683.3:c.555-10G>A,\N,\N,5/9,Unknown significance,\N,intron_variant,6.814,0.0015,1KG_AFR_AF,P2RX2
328479,12:133196849:TCAGC>T,NM_170683.3:c.555-1_557del,\N,6/10,5/9,Unknown significance,\N,splice_acceptor_variant&coding_sequence_variant&intron_variant,32,0.0000150222,EXAC_NFE_AF,P2RX2
328480,12:133196856:A>G,NM_001282164.1:c.451A>G,NP_001269093.1:p.Ile151Val,5/11,\N,Likely benign,\N,missense_variant,6.542,0.0000961908,EXAC_AFR_AF,P2RX2
328481,12:133196862:G>T,NM_001282164.1:c.457G>T,NP_001269093.1:p.Gly153Trp,5/11,\N,Unknown significance,\N,missense_variant,8.592,\N,\N,P2RX2
328482,12:133196866:A>G,NM_170683.3:c.568A>G,NP_733783.1:p.Thr190Ala,6/10,\N,Likely benign,\N,missense_variant,4.281,0.0000961908,EXAC_AFR_AF,P2RX2
328483,12:133196868:G>A,NM_001282164.1:c.463G>A,NP_001269093.1:p.Asp155Asn,5/11,\N,Likely benign,\N,missense_variant,12.07,0.000116279,EVS_EA_AF,P2RX2
328484,12:133196874:C>T,NM_001282164.1:c.469C>T,NP_001269093.1:p.Pro157Ser,5/11,\N,Likely benign,\N,missense_variant,18.58,0.0000450126,EXAC_NFE_AF,P2RX2
328485,12:133196876:C>T,NM_001282165.1:c.578C>T,NP_001269094.1:p.Pro193Leu,6/10,\N,Unknown significance,\N,missense_variant,24.8,0.000453926,EVS_AA_AF,P2RX2
328486,12:133196890:CTCA>C,NM_170683.3:c.596_598del,NP_733783.1:p.Ile199del,6/10,\N,Unknown significance,\N,inframe_deletion,22.2,0.000288462,EXAC_AFR_AF,P2RX2
328487,12:133196906:T>C,NM_170683.3:c.608T>C,NP_733783.1:p.Ile203Thr,6/10,\N,Unknown significance,\N,missense_variant,27.9,0.0014,1KG_AMR_AF,P2RX2
328488,12:133196909:A>G,NM_170683.3:c.611A>G,NP_733783.1:p.His204Arg,6/10,\N,Unknown significance,\N,missense_variant,9.352,0.000346741,EXAC_EAS_AF,P2RX2
328489,12:133196923:C>T,NM_170683.3:c.625C>T,NP_733783.1:p.His209Tyr,6/10,\N,Unknown significance,\N,missense_variant,23.5,0.000121124,EXAC_SAS_AF,P2RX2
328490,12:133196930:C>G,NM_170683.3:c.632C>G,NP_733783.1:p.Ser211Cys,6/10,\N,Unknown significance,\N,missense_variant,27.3,0.000060562,EXAC_SAS_AF,P2RX2
328491,12:133196931:CAAGT>C,NM_170683.3:c.635+2_635+5del,\N,6/10,6/9,Unknown significance,\N,splice_donor_variant&coding_sequence_variant,35,0.000060562,EXAC_SAS_AF,P2RX2
328492,12:133196933:AG>A,NM_170683.3:c.635+1del,\N,\N,6/9,Unknown significance,\N,splice_donor_variant,25.8,0.000115554,EXAC_EAS_AF,P2RX2
328493,12:133196934:G>A,NM_170683.3:c.635+1G>A,\N,\N,6/9,Unknown significance,\N,splice_donor_variant,27.2,0.0000864454,EXAC_AMR_AF,P2RX2
328494,12:133196938:G>A,NM_170683.3:c.635+5G>A,\N,\N,6/9,Unknown significance,\N,splice_region_variant&intron_variant,15.93,0.0000150011,EXAC_NFE_AF,P2RX2
328495,12:133196942:C>T,NM_170683.3:c.635+9C>T,\N,\N,6/9,Unknown significance,\N,intron_variant,5.927,0.0000150029,EXAC_NFE_AF,P2RX2
328496,12:133196945:G>A,NM_170683.3:c.635+12G>A,\N,\N,6/9,Unknown significance,\N,intron_variant,0.535,0.0000300084,EXAC_NFE_AF,P2RX2
328497,12:133196947:G>A,NM_170683.3:c.635+14G>A,\N,\N,6/9,Unknown significance,\N,intron_variant,6.743,0.00060562,EXAC_SAS_AF,P2RX2
328498,12:133196954:T>C,NM_170683.3:c.635+21T>C,\N,\N,6/9,Unknown significance,\N,intron_variant,0.178,0.0000150029,EXAC_NFE_AF,P2RX2
328499,12:133196956:ACGGCCCAGCCTGAGGG>A,NM_170683.3:c.635+25_635+40del,\N,\N,6/9,Unknown significance,\N,intron_variant,7.519,\N,\N,P2RX2
328500,12:133196957:C>T,NM_170683.3:c.635+24C>T,\N,\N,6/9,Unknown significance,\N,intron_variant,2.727,0.000060015,EXAC_NFE_AF,P2RX2
328501,12:133196958:G>T,NM_170683.3:c.635+25G>T,\N,\N,6/9,Unknown significance,\N,intron_variant,0.58,0.000121124,EXAC_SAS_AF,P2RX2
328502,12:133196959:G>T,NM_170683.3:c.635+26G>T,\N,\N,6/9,Unknown significance,\N,intron_variant,1.992,0.000116279,EVS_EA_AF,P2RX2
328503,12:133196963:A>T,NM_170683.3:c.635+30A>T,\N,\N,6/9,Unknown significance,\N,intron_variant,0.441,0.0000864304,EXAC_AMR_AF,P2RX2
328504,12:133196965:C>T,NM_170683.3:c.635+32C>T,\N,\N,6/9,Unknown significance,\N,intron_variant,4.976,0.0000962094,EXAC_AFR_AF,P2RX2
328505,12:133196968:G>A,NM_170683.3:c.635+35G>A,\N,\N,6/9,Unknown significance,\N,intron_variant,5.351,0.000465116,EVS_EA_AF,P2RX2
328506,12:133196976:C>T,NM_170683.3:c.635+43C>T,\N,\N,6/9,Unknown significance,\N,intron_variant,6.196,0.0014,1KG_AMR_AF,P2RX2
328507,12:133196978:T>C,NM_170683.3:c.635+45T>C,\N,\N,6/9,Unknown significance,\N,intron_variant,3.577,0.0000962094,EXAC_AFR_AF,P2RX2
328508,12:133196982:G>C,NM_170683.3:c.635+49G>C,\N,\N,6/9,Unknown significance,\N,intron_variant,2.543,0.0000864304,EXAC_AMR_AF,P2RX2
328509,12:133196983:G>A,NM_170683.3:c.636-48G>A,\N,\N,6/9,Unknown significance,\N,intron_variant,3.693,0.000060562,EXAC_SAS_AF,P2RX2
328510,12:133196984:G>A,NM_170683.3:c.636-47G>A,\N,\N,6/9,Unknown significance,\N,intron_variant,5.872,0.00331858,EXAC_OTH_AF,P2RX2
328511,12:133196995:T>C,NM_170683.3:c.636-36T>C,\N,\N,6/9,Unknown significance,\N,intron_variant,4.344,0.000346901,EXAC_EAS_AF,P2RX2
328512,12:133197000:G>A,NM_170683.3:c.636-31G>A,\N,\N,6/9,Unknown significance,\N,intron_variant,12.35,0.0000450126,EXAC_NFE_AF,P2RX2
328513,12:133197004:A>G,NM_170683.3:c.636-27A>G,\N,\N,6/9,Unknown significance,\N,intron_variant,13.37,0.000232558,EVS_EA_AF,P2RX2
328514,12:133197017:T>C,NM_170683.3:c.636-14T>C,\N,\N,6/9,Unknown significance,\N,intron_variant,7.173,\N,\N,P2RX2
328515,12:133197017:T>TACC,NM_170683.3:c.636-14_636-13insACC,\N,\N,6/9,Unknown significance,\N,intron_variant,5.945,\N,\N,P2RX2
328516,12:133197018:G>A,NM_170683.3:c.636-13G>A,\N,\N,6/9,Benign,\N,intron_variant,5.115,0.8313,1KG_AFR_AF,P2RX2
328517,12:133197018:G>GCCTCCTA,NM_170683.3:c.636-11_636-10insTCCTACC,\N,\N,6/9,Unknown significance,\N,intron_variant,3.664,0.0000864753,EXAC_AMR_AF,P2RX2
328518,12:133197020:C>T,NM_170683.3:c.636-11C>T,\N,\N,6/9,Unknown significance,\N,intron_variant,0.703,0.0000150087,EXAC_NFE_AF,P2RX2
328519,12:133197021:G>A,NM_170683.3:c.636-10G>A,\N,\N,6/9,Unknown significance,\N,intron_variant,0.477,0.00136281,EXAC_FIN_AF,P2RX2
328520,12:133197030:G>A,NM_170683.3:c.636-1G>A,\N,\N,6/9,Unknown significance,\N,splice_acceptor_variant,24.7,0.0000962279,EXAC_AFR_AF,P2RX2
328521,12:133197032:G>A,NM_170683.3:c.637G>A,NP_733783.1:p.Gly213Ser,7/10,\N,Unknown significance,\N,missense_variant&splice_region_variant,22.5,\N,\N,P2RX2
328522,12:133197033:G>A,NM_012226.3:c.422G>A,NP_036358.2:p.Gly141Asp,5/9,\N,Unknown significance,\N,missense_variant&splice_region_variant,24.1,0.001,1KG_EUR_AF,P2RX2
328523,12:133197040:C>T,NM_001282164.1:c.538C>T,NP_001269093.1:p.Arg180Cys,6/11,\N,Likely benign,\N,missense_variant,12.58,0.0000150096,EXAC_NFE_AF,P2RX2
328524,12:133197041:G>A,NM_001282164.1:c.539G>A,NP_001269093.1:p.Arg180His,6/11,\N,Unknown significance,\N,missense_variant,18.54,0.0000150087,EXAC_NFE_AF,P2RX2
328525,12:133197043:C>T,NM_001282164.1:c.541C>T,NP_001269093.1:p.Arg181Ter,6/11,\N,Unknown significance,\N,stop_gained,11.5,0.00110619,EXAC_OTH_AF,P2RX2
328526,12:133197044:G>C,NM_170683.3:c.649G>C,NP_733783.1:p.Asp217His,7/10,\N,Likely benign,\N,missense_variant,4.431,0.0000150092,EXAC_NFE_AF,P2RX2
328527,12:133197051:C>A,NM_170683.3:c.656C>A,NP_733783.1:p.Thr219Lys,7/10,\N,Likely benign,\N,missense_variant,0.016,0.000060562,EXAC_SAS_AF,P2RX2
328528,12:133197055:C>T,NM_001282164.1:c.553C>T,NP_001269093.1:p.Arg185Trp,6/11,\N,Likely benign,\N,missense_variant,9.421,0.000242248,EXAC_SAS_AF,P2RX2
328529,12:133197068:C>G,NM_170683.3:c.673C>G,NP_733783.1:p.Arg225Gly,7/10,\N,Likely benign,\N,missense_variant,17.68,0.00110619,EXAC_OTH_AF,P2RX2
328530,12:133197076:G>A,NM_001282164.1:c.574G>A,NP_001269093.1:p.Val192Ile,6/11,\N,Likely benign,\N,missense_variant,7.868,0.0000963206,EXAC_AFR_AF,P2RX2
328531,12:133197081:AC>A,NM_170683.3:c.687del,NP_733783.1:p.His229GlnfsTer110,7/10,\N,Unknown significance,\N,frameshift_variant,17.8,0.0000150146,EXAC_NFE_AF,P2RX2
328532,12:133197082:C>T,NM_001282164.1:c.580C>T,NP_001269093.1:p.Arg194Ter,6/11,\N,Unknown significance,\N,stop_gained,10.49,0.000115714,EXAC_EAS_AF,P2RX2
328533,12:133197083:G>T,NM_170683.3:c.688G>T,NP_733783.1:p.Glu230Ter,7/10,\N,Unknown significance,\N,stop_gained,35,0.0000150159,EXAC_NFE_AF,P2RX2
328534,12:133197091:C>T,NM_001282164.1:c.589C>T,NP_001269093.1:p.Arg197Ter,6/11,\N,Unknown significance,\N,stop_gained,12.52,\N,\N,P2RX2
328535,12:133197094:C>T,NM_001282164.1:c.592C>T,NP_001269093.1:p.Pro198Ser,6/11,\N,Benign,\N,missense_variant,9.714,0.0204,1KG_AFR_AF,P2RX2
328536,12:133197095:C>A,NM_001282164.1:c.593C>A,NP_001269093.1:p.Pro198His,6/11,\N,Unknown significance,\N,missense_variant,21.4,0.000231481,EXAC_EAS_AF,P2RX2
328537,12:133197095:C>G,NM_001282164.1:c.593C>G,NP_001269093.1:p.Pro198Arg,6/11,\N,Unknown significance,\N,missense_variant,15.56,0.0000150236,EXAC_NFE_AF,P2RX2
328538,12:133197097:C>T,NM_170683.3:c.702C>T,NP_733783.1:p.Leu234=,7/10,\N,Unknown significance,\N,synonymous_variant,11.82,0.0008,1KG_AFR_AF,P2RX2
328539,12:133197099:A>G,NM_170683.3:c.704A>G,NP_733783.1:p.Tyr235Cys,7/10,\N,Unknown significance,\N,missense_variant,25.9,0.000259426,EXAC_AMR_AF,P2RX2
328540,12:133197101:T>G,NM_170683.3:c.706T>G,NP_733783.1:p.Cys236Gly,7/10,\N,Unknown significance,\N,missense_variant,26,0.0000150299,EXAC_NFE_AF,P2RX2
328541,12:133197103:C>A,NM_170683.3:c.708C>A,NP_733783.1:p.Cys236Ter,7/10,\N,Unknown significance,\N,stop_gained,36,0.0000150308,EXAC_NFE_AF,P2RX2
328542,12:133197103:C>T,NM_001282164.1:c.601C>T,NP_001269093.1:p.Pro201Ser,6/11,\N,Unknown significance,\N,missense_variant,13.76,0.00068089,EVS_AA_AF,P2RX2
328543,12:133197107:A>C,NM_012226.3:c.496A>C,NP_036358.2:p.Ile166Leu,5/9,\N,Unknown significance,\N,missense_variant,27.9,0.0000300716,EXAC_NFE_AF,P2RX2
328544,12:133197114:A>C,NM_170683.3:c.719A>C,NP_733783.1:p.Lys240Thr,7/10,\N,Likely benign,\N,missense_variant,21.3,0.000115875,EXAC_EAS_AF,P2RX2
328545,12:133197115:G>A,NM_001282164.1:c.613G>A,NP_001269093.1:p.Ala205Thr,6/11,\N,Unknown significance,\N,missense_variant,12.93,0.0000864753,EXAC_AMR_AF,P2RX2
328546,12:133197117:TG>T,NM_170683.3:c.725del,NP_733783.1:p.Gly242AlafsTer97,7/10,\N,Unknown significance,\N,frameshift_variant,34,0.000060562,EXAC_SAS_AF,P2RX2
328547,12:133197122:T>C,NM_001282164.1:c.620T>C,NP_001269093.1:p.Leu207Pro,6/11,\N,Unknown significance,\N,missense_variant,14.28,0.000348837,EVS_EA_AF,P2RX2
328548,12:133197127:C>T,NM_001282164.1:c.625C>T,NP_001269093.1:p.Arg209Cys,6/11,\N,Likely benign,\N,missense_variant,12.23,0.0000605694,EXAC_SAS_AF,P2RX2
328549,12:133197128:G>A,NM_170683.3:c.733G>A,NP_733783.1:p.Val245Met,7/10,\N,Unknown significance,\N,missense_variant,27.1,0.0008,1KG_AFR_AF,P2RX2
328550,12:133197132:A>G,NM_170683.3:c.737A>G,NP_733783.1:p.Glu246Gly,7/10,\N,Unknown significance,\N,missense_variant,23.1,0.0000452311,EXAC_NFE_AF,P2RX2
328551,12:133197140:G>A,NM_001282164.1:c.638G>A,NP_001269093.1:p.Trp213Ter,6/11,\N,Unknown significance,\N,stop_gained,24,0.000609756,EXAC_FIN_AF,P2RX2
328552,12:133197157:G>A,NM_001282164.1:c.655G>A,NP_001269093.1:p.Ala219Thr,6/11,\N,Likely benign,\N,missense_variant,1.377,0.000116279,EVS_EA_AF,P2RX2
328553,12:133197157:G>C,NM_170683.3:c.762G>C,NP_733783.1:p.Glu254Asp,7/10,\N,Unknown significance,\N,missense_variant,14.06,0.000346741,EXAC_AMR_AF,P2RX2
328554,12:133197160:C>T,NM_001282164.1:c.658C>T,NP_001269093.1:p.Arg220Cys,6/11,\N,Likely benign,\N,missense_variant,9.241,0.0000867453,EXAC_AMR_AF,P2RX2
328555,12:133197162:C>T,NM_170683.3:c.767C>T,NP_733783.1:p.Ala256Val,7/10,\N,Unknown significance,\N,missense_variant,24.9,0.0000151985,EXAC_NFE_AF,P2RX2
328556,12:133197165:A>C,NM_170683.3:c.770A>C,NP_733783.1:p.His257Pro,7/10,\N,Unknown significance,\N,missense_variant,0.332,0.000182882,EXAC_SAS_AF,P2RX2
328557,12:133197165:A>G,NM_170683.3:c.770A>G,NP_733783.1:p.His257Arg,7/10,\N,Likely benign,\N,missense_variant,0.005,0.000030421,EXAC_NFE_AF,P2RX2
328558,12:133197168:A>C,NM_001282164.1:c.666A>C,NP_001269093.1:p.Gln222His,6/11,\N,Likely benign,\N,missense_variant,0.57,0.0000152286,EXAC_NFE_AF,P2RX2
328559,12:133197169:G>A,NM_001282164.1:c.667G>A,NP_001269093.1:p.Gly223Ser,6/11,\N,Unknown significance,\N,missense_variant,8.208,0.000116279,EVS_EA_AF,P2RX2
328560,12:133197176:C>G,NM_001282164.1:c.672+2C>G,\N,\N,6/10,Benign,\N,splice_donor_variant,0.623,0.0091,1KG_AFR_AF,P2RX2
328561,12:133197178:A>T,NM_001282164.1:c.672+4A>T,\N,\N,6/10,Unknown significance,\N,splice_region_variant&intron_variant,3.228,0.000116279,EVS_EA_AF,P2RX2
328562,12:133197181:G>A,NM_001282164.1:c.672+7G>A,\N,\N,6/10,Unknown significance,\N,splice_region_variant&intron_variant,1.531,0.000099167,EXAC_AFR_AF,P2RX2
328563,12:133197185:GCAGGGTGGGGC>G,NM_170683.3:c.774+26_774+36del,\N,\N,7/9,Unknown significance,\N,intron_variant,4.774,\N,\N,P2RX2
328564,12:133197186:C>A,NM_170683.3:c.774+17C>A,\N,\N,7/9,Unknown significance,\N,intron_variant,3.064,0.0000997208,EXAC_AFR_AF,P2RX2
328565,12:133197186:C>G,NM_170683.3:c.774+17C>G,\N,\N,7/9,Unknown significance,\N,intron_variant,1.632,0.0000153804,EXAC_NFE_AF,P2RX2
328566,12:133197188:G>T,NM_170683.3:c.774+19G>T,\N,\N,7/9,Unknown significance,\N,intron_variant,2.199,0.00117123,EXAC_EAS_AF,P2RX2
328567,12:133197189:G>A,NM_170683.3:c.774+20G>A,\N,\N,7/9,Unknown significance,\N,intron_variant,4.887,0.0000154116,EXAC_NFE_AF,P2RX2
328568,12:133197191:T>G,NM_170683.3:c.774+22T>G,\N,\N,7/9,Unknown significance,\N,intron_variant,4.066,0.000201045,EXAC_AFR_AF,P2RX2
328569,12:133197194:G>A,NM_170683.3:c.774+25G>A,\N,\N,7/9,Unknown significance,\N,intron_variant,4.469,0.000454133,EVS_AA_AF,P2RX2
328570,12:133197195:G>A,NM_170683.3:c.774+26G>A,\N,\N,7/9,Unknown significance,\N,intron_variant,4.654,0.0000871992,EXAC_AMR_AF,P2RX2
328571,12:133197198:A>T,NM_170683.3:c.774+29A>T,\N,\N,7/9,Unknown significance,\N,intron_variant,4.829,\N,\N,P2RX2
328572,12:133197201:G>A,NM_170683.3:c.774+32G>A,\N,\N,7/9,Unknown significance,\N,intron_variant,3.731,0.0015,1KG_AFR_AF,P2RX2
328573,12:133197205:G>T,NM_170683.3:c.774+36G>T,\N,\N,7/9,Unknown significance,\N,intron_variant,4.555,0.000101564,EXAC_AFR_AF,P2RX2
328574,12:133197210:C>T,NM_170683.3:c.774+41C>T,\N,\N,7/9,Unknown significance,\N,intron_variant,3.293,0.000118008,EXAC_EAS_AF,P2RX2
328575,12:133197212:C>A,NM_170683.3:c.774+43C>A,\N,\N,7/9,Unknown significance,\N,intron_variant,6.057,0.0000155579,EXAC_NFE_AF,P2RX2
328576,12:133197218:C>G,NM_170683.3:c.774+49C>G,\N,\N,7/9,Unknown significance,\N,intron_variant,1.344,0.0000156128,EXAC_NFE_AF,P2RX2
328577,12:133197218:CAG>C,NM_170683.3:c.774+54_774+55del,\N,\N,7/9,Unknown significance,\N,intron_variant,7.459,0.00012982,EXAC_SAS_AF,P2RX2
328578,12:133197223:A>C,NM_170683.3:c.774+54A>C,\N,\N,7/9,Unknown significance,\N,intron_variant,0.579,0.001,1KG_SAS_AF,P2RX2
328579,12:133197227:C>T,NM_170683.3:c.774+58C>T,\N,\N,7/9,Benign,\N,intron_variant,1.303,0.0113,1KG_AFR_AF,P2RX2
328580,12:133197263:A>C,NM_170683.3:c.774+94A>C,\N,\N,7/9,Unknown significance,\N,intron_variant,1.532,\N,\N,P2RX2
328581,12:133197288:GA>G,NM_170683.3:c.774+123del,\N,\N,7/9,Benign,\N,intron_variant,1.626,0.8411,1KG_AFR_AF,P2RX2
328582,12:133197317:C>T,NM_170683.3:c.774+148C>T,\N,\N,7/9,Benign,\N,intron_variant,5.33,0.0061,1KG_AFR_AF,P2RX2
328583,12:133197344:A>T,NM_170683.3:c.774+175A>T,\N,\N,7/9,Unknown significance,\N,intron_variant,8.462,\N,\N,P2RX2
328584,12:133197345:C>T,NM_170683.3:c.774+176C>T,\N,\N,7/9,Unknown significance,\N,intron_variant,9.69,0.002,1KG_EUR_AF,P2RX2
328585,12:133197359:GGCT>G,NM_170683.3:c.774+195_774+197del,\N,\N,7/9,Unknown significance,\N,intron_variant,4.276,\N,\N,P2RX2
328586,12:133197393:C>T,NM_170683.3:c.775-194C>T,\N,\N,7/9,Unknown significance,\N,intron_variant,4.086,0.001,1KG_EUR_AF,P2RX2
328587,12:133197421:T>C,NM_170683.3:c.775-166T>C,\N,\N,7/9,Benign,\N,intron_variant,2.902,0.0109,1KG_EUR_AF,P2RX2
328588,12:133197431:A>G,NM_170683.3:c.775-156A>G,\N,\N,7/9,Unknown significance,\N,intron_variant,5.741,\N,\N,P2RX2
328589,12:133197438:A>G,NM_170683.3:c.775-149A>G,\N,\N,7/9,Unknown significance,\N,intron_variant,2.445,0.001,1KG_EUR_AF,P2RX2
328590,12:133197449:AGCCTGGGACTGACCCGGGCTCTCGAGGGGCCTCTCGTGTGCCCTTGTGACCCCCTTCCCTG>A,NM_170683.3:c.775-93_775-33del,\N,\N,7/9,Unknown significance,\N,intron_variant,2.977,\N,\N,P2RX2
328591,12:133197453:T>C,NM_170683.3:c.775-134T>C,\N,\N,7/9,Unknown significance,\N,intron_variant,7.469,0.0008,1KG_AFR_AF,P2RX2
328592,12:133197472:C>T,NM_170683.3:c.775-115C>T,\N,\N,7/9,Unknown significance,\N,intron_variant,0.903,0.0041,1KG_SAS_AF,P2RX2
328593,12:133197478:G>T,NM_170683.3:c.775-109G>T,\N,\N,7/9,Benign,\N,intron_variant,0.515,0.0256,1KG_SAS_AF,P2RX2
328594,12:133197491:C>T,NM_170683.3:c.775-96C>T,\N,\N,7/9,Benign,\N,intron_variant,2.702,0.0454,1KG_AFR_AF,P2RX2
328595,12:133197494:T>C,NM_170683.3:c.775-93T>C,\N,\N,7/9,Benign,\N,intron_variant,1.028,0.7141,1KG_AFR_AF,P2RX2
328596,12:133197495:G>C,NM_170683.3:c.775-92G>C,\N,\N,7/9,Benign,\N,intron_variant,0.264,0.7141,1KG_AFR_AF,P2RX2
328597,12:133197506:C>A,NM_170683.3:c.775-81C>A,\N,\N,7/9,Benign,\N,intron_variant,7.329,0.0257,1KG_AFR_AF,P2RX2
328598,12:133197507:C>T,NM_170683.3:c.775-80C>T,\N,\N,7/9,Benign,\N,intron_variant,7.696,0.0787,1KG_AFR_AF,P2RX2
328599,12:133197508:C>A,NM_170683.3:c.775-79C>A,\N,\N,7/9,Benign,\N,intron_variant,7.623,0.0257,1KG_AFR_AF,P2RX2
328600,12:133197510:G>GCA,NM_170683.3:c.775-77_775-76insCA,\N,\N,7/9,Benign,\N,intron_variant,4.891,0.0303,1KG_AFR_AF,P2RX2
328601,12:133197514:T>C,NM_170683.3:c.775-73T>C,\N,\N,7/9,Unknown significance,\N,intron_variant,3.208,0.0015,1KG_AFR_AF,P2RX2
328602,12:133197524:C>G,NM_170683.3:c.775-63C>G,\N,\N,7/9,Unknown significance,\N,intron_variant,5.209,0.001,1KG_EUR_AF,P2RX2
328603,12:133197525:C>T,NM_170683.3:c.775-62C>T,\N,\N,7/9,Unknown significance,\N,intron_variant,7.397,0.002,1KG_EAS_AF,P2RX2
328604,12:133197533:C>T,NM_170683.3:c.775-54C>T,\N,\N,7/9,Unknown significance,\N,intron_variant,8.927,0.0041,1KG_SAS_AF,P2RX2
328605,12:133197538:G>A,NM_170683.3:c.775-49G>A,\N,\N,7/9,Unknown significance,\N,intron_variant,7.63,0.000015098,EXAC_NFE_AF,P2RX2
328606,12:133197539:G>T,NM_170683.3:c.775-48G>T,\N,\N,7/9,Unknown significance,\N,intron_variant,6.967,0.00197674,EVS_EA_AF,P2RX2
328607,12:133197543:C>T,NM_170683.3:c.775-44C>T,\N,\N,7/9,Unknown significance,\N,intron_variant,8.894,0.0000150889,EXAC_NFE_AF,P2RX2
328608,12:133197545:C>T,NM_170683.3:c.775-42C>T,\N,\N,7/9,Unknown significance,\N,intron_variant,8.842,0.0000150916,EXAC_NFE_AF,P2RX2
328609,12:133197546:G>A,NM_170683.3:c.775-41G>A,\N,\N,7/9,Unknown significance,\N,intron_variant,8.701,0.001,1KG_SAS_AF,P2RX2
328610,12:133197555:C>T,NM_170683.3:c.775-32C>T,\N,\N,7/9,Unknown significance,\N,intron_variant,11.15,0.001,1KG_EAS_AF|1KG_SAS_AF,P2RX2
328611,12:133197556:C>G,NM_170683.3:c.775-31C>G,\N,\N,7/9,Unknown significance,\N,intron_variant,10.35,0.001,1KG_EAS_AF|1KG_SAS_AF,P2RX2
328612,12:133197560:C>A,NM_170683.3:c.775-27C>A,\N,\N,7/9,Unknown significance,\N,intron_variant,7.698,0.000116279,EVS_EA_AF,P2RX2
328613,12:133197560:C>T,NM_170683.3:c.775-27C>T,\N,\N,7/9,Unknown significance,\N,intron_variant,7.515,0.000427298,EXAC_SAS_AF,P2RX2
328614,12:133197563:C>A,NM_170683.3:c.775-24C>A,\N,\N,7/9,Unknown significance,\N,intron_variant,9.081,0.0000150227,EXAC_NFE_AF,P2RX2
328615,12:133197568:T>C,NM_170683.3:c.775-19T>C,\N,\N,7/9,Unknown significance,\N,intron_variant,0.375,0.00255814,EVS_EA_AF,P2RX2
328616,12:133197575:CCTT>C,NM_170683.3:c.775-8_775-6del,\N,\N,7/9,Benign,\N,intron_variant,4.794,0.0794,1KG_AFR_AF,P2RX2
328617,12:133197582:G>A,NM_170683.3:c.775-5G>A,\N,\N,7/9,Unknown significance,\N,splice_region_variant&intron_variant,2.174,0.000181796,EXAC_SAS_AF,P2RX2
328618,12:133197587:G>A,NM_170683.3:c.775G>A,NP_733783.1:p.Gly259Ser,8/10,\N,Unknown significance,\N,missense_variant&splice_region_variant,26.6,0.0000149979,EXAC_NFE_AF,P2RX2
328619,12:133197589:T>G,NM_170683.3:c.777T>G,NP_733783.1:p.Gly259=,8/10,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,6.982,\N,\N,P2RX2
328620,12:133197594:T>A,NM_170683.3:c.782T>A,NP_733783.1:p.Val261Asp,8/10,\N,Unknown significance,\N,missense_variant,26.6,0.000192345,EXAC_AFR_AF,P2RX2
328621,12:133197598:C>T,NM_170683.3:c.786C>T,NP_733783.1:p.Ile262=,8/10,\N,Unknown significance,\N,synonymous_variant,11.84,0.000121124,EXAC_SAS_AF,P2RX2
328622,12:133197602:G>T,NM_170683.3:c.790G>T,NP_733783.1:p.Val264Phe,8/10,\N,Unknown significance,\N,missense_variant,26.8,0.00023116,EXAC_EAS_AF,P2RX2
328623,12:133197613:C>T,NM_170683.3:c.801C>T,NP_733783.1:p.Asn267=,8/10,\N,Unknown significance,\N,synonymous_variant,9.576,0.000121124,EXAC_SAS_AF,P2RX2
328624,12:133197615:G>A,NM_170683.3:c.803G>A,NP_733783.1:p.Trp268Ter,8/10,\N,Unknown significance,\N,stop_gained,37,0.0000149898,EXAC_NFE_AF,P2RX2
328625,12:133197617:G>A,NM_170683.3:c.805G>A,NP_733783.1:p.Asp269Asn,8/10,\N,Likely benign,\N,missense_variant,14.47,0.000121124,EXAC_SAS_AF,P2RX2
328626,12:133197618:A>T,NM_001282165.1:c.806A>T,NP_001269094.1:p.Asp269Val,8/10,\N,Unknown significance,\N,missense_variant,24.8,0.0000299796,EXAC_NFE_AF,P2RX2
328627,12:133197629:G>T,NM_170683.3:c.817G>T,NP_733783.1:p.Asp273Tyr,8/10,\N,Unknown significance,\N,missense_variant,27.1,0.000924428,EXAC_EAS_AF,P2RX2
328628,12:133197630:A>C,NM_170683.3:c.818A>C,NP_733783.1:p.Asp273Ala,8/10,\N,Unknown significance,\N,missense_variant,25.6,\N,\N,P2RX2
328629,12:133197638:G>A,NM_012226.3:c.610G>A,NP_036358.2:p.Ala204Thr,6/9,\N,Unknown significance,\N,missense_variant,19.62,0.000344704,EXAC_NFE_AF,P2RX2
328630,12:133197640:A>G,NM_170683.3:c.828A>G,NP_733783.1:p.Ala276=,8/10,\N,Unknown significance,\N,synonymous_variant,0.101,0.000226963,EVS_AA_AF,P2RX2
328631,12:133197643:G>A,NM_170683.3:c.831G>A,NP_733783.1:p.Ser277=,8/10,\N,Benign,\N,synonymous_variant,3.326,0.00643983,EXAC_AFR_AF,P2RX2
328632,12:133197644:G>A,NM_170683.3:c.832G>A,NP_733783.1:p.Glu278Lys,8/10,\N,Likely benign,\N,missense_variant,0.484,0.0000864006,EXAC_AMR_AF,P2RX2
328633,12:133197647:T>C,NM_170683.3:c.835T>C,NP_733783.1:p.Cys279Arg,8/10,\N,Unknown significance,\N,missense_variant,23.9,0.000116279,EVS_EA_AF,P2RX2
328634,12:133197653:C>T,NM_170683.3:c.841C>T,NP_733783.1:p.Pro281Ser,8/10,\N,Unknown significance,\N,missense_variant,26.5,0.0000299733,EXAC_NFE_AF,P2RX2
328635,12:133197664:C>T,NM_170683.3:c.852C>T,NP_733783.1:p.Ser284=,8/10,\N,Unknown significance,\N,synonymous_variant,15.09,0.000226963,EVS_AA_AF,P2RX2
328636,12:133197668:C>T,NM_170683.3:c.856C>T,NP_733783.1:p.Arg286Trp,8/10,\N,Unknown significance,\N,missense_variant,35,0.000302389,EXAC_FIN_AF,P2RX2
328637,12:133197669:G>A,NM_170683.3:c.857G>A,NP_733783.1:p.Arg286Gln,8/10,\N,Unknown significance,\N,missense_variant,29.5,0.0008,1KG_AFR_AF,P2RX2
328638,12:133197670:G>T,NM_170683.3:c.858G>T,NP_733783.1:p.Arg286=,8/10,\N,Unknown significance,\N,synonymous_variant,10.35,0.000014988,EXAC_NFE_AF,P2RX2
328639,12:133197672:G>A,NM_170683.3:c.860G>A,NP_733783.1:p.Arg287Lys,8/10,\N,Unknown significance,\N,missense_variant,27.1,0.0000961538,EXAC_AFR_AF,P2RX2
328640,12:133197673:G>A,NM_170683.3:c.861G>A,NP_733783.1:p.Arg287=,8/10,\N,Unknown significance,\N,synonymous_variant,12.12,0.000226963,EVS_AA_AF,P2RX2
328641,12:133197677:G>C,NM_170683.3:c.865G>C,NP_733783.1:p.Asp289His,8/10,\N,Unknown significance,\N,missense_variant,27.9,0.000060562,EXAC_SAS_AF,P2RX2
328642,12:133197688:C>T,NM_170683.3:c.876C>T,NP_733783.1:p.His292=,8/10,\N,Unknown significance,\N,synonymous_variant,10.41,0.000121124,EXAC_SAS_AF,P2RX2
328643,12:133197691:G>A,NM_170683.3:c.879G>A,NP_733783.1:p.Val293=,8/10,\N,Unknown significance,\N,synonymous_variant,1.785,\N,\N,P2RX2
328644,12:133197699:C>T,NM_170683.3:c.887C>T,NP_733783.1:p.Ser296Leu,8/10,\N,Unknown significance,\N,missense_variant,32,0.000480769,EXAC_AFR_AF,P2RX2
328645,12:133197700:G>A,NM_170683.3:c.888G>A,NP_733783.1:p.Ser296=,8/10,\N,Unknown significance,\N,synonymous_variant,7.271,0.00017991,EXAC_NFE_AF,P2RX2
328646,12:133197707:TACA>T,NM_170683.3:c.898_900del,NP_733783.1:p.Asn300del,8/10,\N,Unknown significance,\N,inframe_deletion,22.3,\N,\N,P2RX2
328647,12:133197711:A>G,NM_170683.3:c.899A>G,NP_733783.1:p.Asn300Ser,8/10,\N,Unknown significance,\N,missense_variant,23,0.000462428,EXAC_EAS_AF,P2RX2
328648,12:133197712:C>T,NM_170683.3:c.900C>T,NP_733783.1:p.Asn300=,8/10,\N,Unknown significance,\N,synonymous_variant,11.64,0.0008,1KG_AFR_AF,P2RX2
328649,12:133197734:A>G,NM_170683.3:c.905+17A>G,\N,\N,8/9,Unknown significance,\N,intron_variant,0.115,0.000115607,EXAC_EAS_AF,P2RX2
328650,12:133197736:C>T,NM_170683.3:c.905+19C>T,\N,\N,8/9,Unknown significance,\N,intron_variant,1.395,0.00113482,EVS_AA_AF,P2RX2
328651,12:133197737:G>A,NM_170683.3:c.905+20G>A,\N,\N,8/9,Unknown significance,\N,intron_variant,3.176,0.0000450005,EXAC_NFE_AF,P2RX2
328652,12:133197746:A>G,NM_170683.3:c.905+29A>G,\N,\N,8/9,Unknown significance,\N,intron_variant,0.236,0.0000449924,EXAC_NFE_AF,P2RX2
328653,12:133197746:A>T,NM_170683.3:c.905+29A>T,\N,\N,8/9,Unknown significance,\N,intron_variant,0.084,0.0000449924,EXAC_NFE_AF,P2RX2
328654,12:133197749:G>A,NM_170683.3:c.905+32G>A,\N,\N,8/9,Unknown significance,\N,intron_variant,0.819,0.0000605694,EXAC_SAS_AF,P2RX2
328655,12:133197755:G>A,NM_170683.3:c.905+38G>A,\N,\N,8/9,Unknown significance,\N,intron_variant,1.293,0.0000605694,EXAC_SAS_AF,P2RX2
328656,12:133197758:G>A,NM_170683.3:c.905+41G>A,\N,\N,8/9,Unknown significance,\N,intron_variant,0.254,0.000231214,EXAC_EAS_AF,P2RX2
328657,12:133197758:G>C,NM_170683.3:c.905+41G>C,\N,\N,8/9,Unknown significance,\N,intron_variant,0.083,0.000363548,EXAC_SAS_AF,P2RX2
328658,12:133197760:G>A,NM_170683.3:c.905+43G>A,\N,\N,8/9,Unknown significance,\N,intron_variant,0.033,0.0000450032,EXAC_NFE_AF,P2RX2
328659,12:133197765:G>C,NM_170683.3:c.905+48G>C,\N,\N,8/9,Unknown significance,\N,intron_variant,1.524,0.000384615,EXAC_AFR_AF,P2RX2
328660,12:133197770:C>T,NM_170683.3:c.905+53C>T,\N,\N,8/9,Unknown significance,\N,intron_variant,3.937,0,1KG_ALL_AF|1KG_AFR_AF|1KG_AMR_AF|1KG_EAS_AF|1KG_EUR_AF|1KG_SAS_AF,P2RX2
328661,12:133197771:G>C,NM_170683.3:c.905+54G>C,\N,\N,8/9,Unknown significance,\N,intron_variant,0.26,0.001,1KG_SAS_AF,P2RX2
328662,12:133197789:G>A,NM_170683.3:c.906-52G>A,\N,\N,8/9,Benign,\N,intron_variant,0.265,0.0182859,EVS_EA_AF,P2RX2
328663,12:133197790:G>C,NM_170683.3:c.906-51G>C,\N,\N,8/9,Unknown significance,\N,intron_variant,0.041,0.001,1KG_SAS_AF,P2RX2
328664,12:133197795:G>T,NM_170683.3:c.906-46G>T,\N,\N,8/9,Unknown significance,\N,intron_variant,0.224,\N,\N,P2RX2
328665,12:133197797:C>A,NM_170683.3:c.906-44C>A,\N,\N,8/9,Unknown significance,\N,intron_variant,0.623,0.0000150087,EXAC_NFE_AF,P2RX2
328666,12:133197797:C>G,NM_170683.3:c.906-44C>G,\N,\N,8/9,Unknown significance,\N,intron_variant,0.108,0.0000150087,EXAC_NFE_AF,P2RX2
328667,12:133197799:T>A,NM_170683.3:c.906-42T>A,\N,\N,8/9,Unknown significance,\N,intron_variant,1.455,0.00249635,EXAC_SAS_AF,P2RX2
328668,12:133197799:TG>T,NM_170683.3:c.906-40del,\N,\N,8/9,Unknown significance,\N,intron_variant,0.065,0.0000864006,EXAC_AMR_AF,P2RX2
328669,12:133197800:G>A,NM_170683.3:c.906-41G>A,\N,\N,8/9,Unknown significance,\N,intron_variant,0.074,0.0000150087,EXAC_NFE_AF,P2RX2
328670,12:133197802:A>T,NM_170683.3:c.906-39A>T,\N,\N,8/9,Unknown significance,\N,intron_variant,0.506,0.0000864006,EXAC_AMR_AF,P2RX2
328671,12:133197803:G>C,NM_170683.3:c.906-38G>C,\N,\N,8/9,Unknown significance,\N,intron_variant,0.389,0.0000150078,EXAC_NFE_AF,P2RX2
328672,12:133197807:A>C,NM_170683.3:c.906-34A>C,\N,\N,8/9,Unknown significance,\N,intron_variant,0.076,0.0000150083,EXAC_NFE_AF,P2RX2
328673,12:133197808:G>T,NM_170683.3:c.906-33G>T,\N,\N,8/9,Unknown significance,\N,intron_variant,0.301,\N,\N,P2RX2
328674,12:133197810:G>C,NM_170683.3:c.906-31G>C,\N,\N,8/9,Unknown significance,\N,intron_variant,0.091,0.000116279,EVS_EA_AF,P2RX2
328675,12:133197813:C>T,NM_170683.3:c.906-28C>T,\N,\N,8/9,Unknown significance,\N,intron_variant,1.652,0.00110375,EXAC_OTH_AF,P2RX2
328676,12:133197814:G>A,NM_170683.3:c.906-27G>A,\N,\N,8/9,Unknown significance,\N,intron_variant,0.2,0.001,1KG_EAS_AF,P2RX2
328677,12:133197816:G>C,NM_170683.3:c.906-25G>C,\N,\N,8/9,Unknown significance,\N,intron_variant,0.616,0.000426569,EXAC_SAS_AF,P2RX2
328678,12:133197819:G>A,NM_170683.3:c.906-22G>A,\N,\N,8/9,Unknown significance,\N,intron_variant,0.512,0.0000609385,EXAC_SAS_AF,P2RX2
328679,12:133197826:G>T,NM_170683.3:c.906-15G>T,\N,\N,8/9,Unknown significance,\N,intron_variant,0.953,0.000015011,EXAC_NFE_AF,P2RX2
328680,12:133197827:C>A,NM_170683.3:c.906-14C>A,\N,\N,8/9,Unknown significance,\N,intron_variant,6.208,0.0000961538,EXAC_AFR_AF,P2RX2
328681,12:133197827:C>T,NM_170683.3:c.906-14C>T,\N,\N,8/9,Unknown significance,\N,intron_variant,5.495,0.000432003,EXAC_AMR_AF,P2RX2
328682,12:133197828:G>A,NM_170683.3:c.906-13G>A,\N,\N,8/9,Unknown significance,\N,intron_variant,0.969,0.00023116,EXAC_EAS_AF,P2RX2
328683,12:133197832:C>T,NM_170683.3:c.906-9C>T,\N,\N,8/9,Unknown significance,\N,intron_variant,2.517,0.001,1KG_EUR_AF,P2RX2
328684,12:133197834:A>T,NM_170683.3:c.906-7A>T,\N,\N,8/9,Benign,\N,splice_region_variant&intron_variant,0.536,0.0053,1KG_AFR_AF,P2RX2
328685,12:133197848:A>G,NM_170683.3:c.913A>G,NP_733783.1:p.Lys305Glu,9/10,\N,Unknown significance,\N,missense_variant,28.2,0.0000961538,EXAC_AFR_AF,P2RX2
328686,12:133197856:C>T,NM_170683.3:c.921C>T,NP_733783.1:p.Tyr307=,9/10,\N,Unknown significance,\N,synonymous_variant,10.11,\N,\N,P2RX2
328687,12:133197857:A>AAGATCAATGGCACCACCACCCGCACGCTCATC,NM_170683.3:c.924_955dup,NP_733783.1:p.Lys319ArgfsTer31,9/10,\N,Unknown significance,\N,frameshift_variant,25,0.0000607165,EXAC_SAS_AF,P2RX2
328688,12:133197857:A>C,NM_170683.3:c.922A>C,NP_733783.1:p.Lys308Gln,9/10,\N,Likely benign,\N,missense_variant,10.91,0.000115554,EXAC_EAS_AF,P2RX2
328689,12:133197857:A>G,NM_170683.3:c.922A>G,NP_733783.1:p.Lys308Glu,9/10,\N,Unknown significance,\N,missense_variant,13.88,0.0024966,EVS_AA_AF,P2RX2
328690,12:133197864:A>G,NM_001282164.1:c.827A>G,NP_001269093.1:p.Asn276Ser,8/11,\N,Unknown significance,\N,missense_variant,23.2,0.0000961354,EXAC_AFR_AF,P2RX2
328691,12:133197865:T>C,NM_170683.3:c.930T>C,NP_733783.1:p.Asn310=,9/10,\N,Unknown significance,\N,synonymous_variant,4.762,0.000116279,EVS_EA_AF,P2RX2
328692,12:133197871:C>T,NM_170683.3:c.936C>T,NP_733783.1:p.Thr312=,9/10,\N,Unknown significance,\N,synonymous_variant,13.14,0.000105007,EXAC_NFE_AF,P2RX2
328693,12:133197878:C>T,NM_170683.3:c.943C>T,NP_733783.1:p.Arg315Cys,9/10,\N,Unknown significance,\N,missense_variant,35,0.0000961354,EXAC_AFR_AF,P2RX2
328694,12:133197879:G>A,NM_170683.3:c.944G>A,NP_733783.1:p.Arg315His,9/10,\N,Unknown significance,\N,missense_variant,34,0.000384615,EXAC_AFR_AF,P2RX2
328695,12:133197882:C>T,NM_170683.3:c.947C>T,NP_733783.1:p.Thr316Met,9/10,\N,Unknown significance,\N,missense_variant,32,0.00226963,EVS_AA_AF,P2RX2
328696,12:133197883:G>A,NM_170683.3:c.948G>A,NP_733783.1:p.Thr316=,9/10,\N,Unknown significance,\N,synonymous_variant,13.76,0.00023116,EXAC_EAS_AF,P2RX2
328697,12:133197898:C>T,NM_170683.3:c.963C>T,NP_733783.1:p.Tyr321=,9/10,\N,Unknown significance,\N,synonymous_variant,11.01,0.0000961538,EXAC_AFR_AF,P2RX2
328698,12:133197899:G>A,NM_170683.3:c.964G>A,NP_733783.1:p.Gly322Arg,9/10,\N,Unknown significance,\N,missense_variant,27.8,0.00127458,EXAC_SAS_AF,P2RX2
328699,12:133197905:C>T,NM_170683.3:c.970C>T,NP_733783.1:p.Arg324Cys,9/10,\N,Unknown significance,\N,missense_variant,34,0.0000750165,EXAC_NFE_AF,P2RX2
328700,12:133197906:G>A,NM_170683.3:c.971G>A,NP_733783.1:p.Arg324His,9/10,\N,Unknown significance,\N,missense_variant,33,0.0008,1KG_AFR_AF,P2RX2
328701,12:133197909:T>C,NM_170683.3:c.974T>C,NP_733783.1:p.Ile325Thr,9/10,\N,Unknown significance,\N,missense_variant,25.6,0.001,1KG_EUR_AF,P2RX2
328702,12:133197912:A>G,NM_170683.3:c.977A>G,NP_733783.1:p.Asp326Gly,9/10,\N,Unknown significance,\N,missense_variant,27.3,0.001,1KG_EUR_AF,P2RX2
328703,12:133197913:C>T,NM_170683.3:c.978C>T,NP_733783.1:p.Asp326=,9/10,\N,Unknown significance,\N,synonymous_variant,12.41,0.000345602,EXAC_AMR_AF,P2RX2
328704,12:133197914:G>A,NM_170683.3:c.979G>A,NP_733783.1:p.Val327Ile,9/10,\N,Likely benign,\N,missense_variant,15.69,0.0000961538,EXAC_AFR_AF,P2RX2
328705,12:133197915:TCATTGTG>T,NM_170683.3:c.984_990del,NP_733783.1:p.Ile328MetfsTer9,9/10,\N,Unknown significance,\N,frameshift_variant,35,0.0000608421,EXAC_SAS_AF,P2RX2
328706,12:133197917:A>G,NM_170683.3:c.982A>G,NP_733783.1:p.Ile328Val,9/10,\N,Unknown significance,\N,missense_variant,24.7,\N,\N,P2RX2
328707,12:133197918:T>C,NM_170683.3:c.983T>C,NP_733783.1:p.Ile328Thr,9/10,\N,Unknown significance,\N,missense_variant,25.1,0.001,1KG_EAS_AF,P2RX2
328708,12:133197921:T>C,NM_170683.3:c.986T>C,NP_733783.1:p.Val329Ala,9/10,\N,Unknown significance,\N,missense_variant,25.3,0.0000150123,EXAC_NFE_AF,P2RX2
328709,12:133197924:A>G,NM_170683.3:c.989A>G,NP_733783.1:p.His330Arg,9/10,\N,Unknown significance,\N,missense_variant,23,0.000115607,EXAC_EAS_AF,P2RX2
328710,12:133197928:A>T,NM_170683.3:c.993A>T,NP_733783.1:p.Gly331=,9/10,\N,Unknown significance,\N,synonymous_variant,0.094,0.000116279,EVS_EA_AF,P2RX2
328711,12:133197929:C>T,NM_170683.3:c.994C>T,NP_733783.1:p.Gln332Ter,9/10,\N,Unknown significance,\N,stop_gained&splice_region_variant,38,0.0000615764,EXAC_SAS_AF,P2RX2
328712,12:133197930:AGGTGCCTGCACCTGCTGGG>A,NM_170683.3:c.996+4_996+22del,\N,9/10,9/9,Unknown significance,\N,splice_donor_variant&coding_sequence_variant&intron_variant,27.4,\N,\N,P2RX2
328713,12:133197933:T>A,NM_170683.3:c.996+2T>A,\N,\N,9/9,Unknown significance,\N,splice_donor_variant,20.4,0.0000864155,EXAC_AMR_AF,P2RX2
328714,12:133197939:C>T,NM_001282165.1:c.1004C>T,NP_001269094.1:p.Ala335Val,9/10,\N,Likely benign,\N,missense_variant,1.113,0.0000300915,EXAC_NFE_AF,P2RX2
328715,12:133197946:TG>T,NM_001282165.1:c.1015+1del,\N,9/10,\N,Unknown significance,\N,frameshift_variant,0.208,0.000432077,EXAC_AMR_AF,P2RX2
328716,12:133197953:G>A,NM_001282165.1:c.1015+3G>A,\N,\N,9/9,Unknown significance,\N,splice_region_variant&intron_variant,0.914,0.0000150811,EXAC_NFE_AF,P2RX2
328717,12:133197954:G>A,NM_001282165.1:c.1015+4G>A,\N,\N,9/9,Unknown significance,\N,splice_region_variant&intron_variant,1.36,0.0000639304,EXAC_SAS_AF,P2RX2
328718,12:133197958:G>A,NM_001282165.1:c.1015+8G>A,\N,\N,9/9,Unknown significance,\N,splice_region_variant&intron_variant,2.158,0.001,1KG_EUR_AF,P2RX2
328719,12:133197964:C>T,NM_170683.3:c.996+33C>T,\N,\N,9/9,Unknown significance,\N,intron_variant,1.683,\N,\N,P2RX2
328720,12:133197966:T>A,NM_170683.3:c.996+35T>A,\N,\N,9/9,Unknown significance,\N,intron_variant,4.548,0.000115634,EXAC_EAS_AF,P2RX2
328721,12:133197970:A>G,NM_170683.3:c.996+39A>G,\N,\N,9/9,Unknown significance,\N,intron_variant,3.151,0.0000865052,EXAC_AMR_AF,P2RX2
328722,12:133197983:G>A,NM_170683.3:c.996+52G>A,\N,\N,9/9,Unknown significance,\N,intron_variant,2.251,0.00161925,EXAC_EAS_AF,P2RX2
328723,12:133197984:C>T,NM_170683.3:c.996+53C>T,\N,\N,9/9,Unknown significance,\N,intron_variant,1.723,0.0000964878,EXAC_AFR_AF,P2RX2
328724,12:133197989:C>T,NM_170683.3:c.996+58C>T,\N,\N,9/9,Unknown significance,\N,intron_variant,1.115,0.0000151874,EXAC_NFE_AF,P2RX2
328725,12:133197991:C>T,NM_170683.3:c.996+60C>T,\N,\N,9/9,Unknown significance,\N,intron_variant,0.054,0.0043,1KG_AMR_AF,P2RX2
328726,12:133197992:G>A,NM_170683.3:c.996+61G>A,\N,\N,9/9,Unknown significance,\N,intron_variant,3.331,0.0008,1KG_AFR_AF,P2RX2
328727,12:133197997:A>T,NM_170683.3:c.997-64A>T,\N,\N,9/9,Unknown significance,\N,intron_variant,4.679,0.000115714,EXAC_EAS_AF,P2RX2
328728,12:133198000:C>T,NM_170683.3:c.997-61C>T,\N,\N,9/9,Unknown significance,\N,intron_variant,8.562,0.000115687,EXAC_EAS_AF,P2RX2
328729,12:133198001:C>T,NM_170683.3:c.997-60C>T,\N,\N,9/9,Unknown significance,\N,intron_variant,7.984,0.0041,1KG_SAS_AF,P2RX2
328730,12:133198010:G>C,NM_170683.3:c.997-51G>C,\N,\N,9/9,Unknown significance,\N,intron_variant,0.188,0.000015337,EXAC_NFE_AF,P2RX2
328731,12:133198010:G>GC,NM_170683.3:c.997-47dup,\N,\N,9/9,Unknown significance,\N,intron_variant,0.879,0.0000866551,EXAC_AMR_AF,P2RX2
328732,12:133198012:C>T,NM_170683.3:c.997-49C>T,\N,\N,9/9,Unknown significance,\N,intron_variant,0.592,0.003,1KG_AFR_AF,P2RX2
328733,12:133198014:C>T,NM_170683.3:c.997-47C>T,\N,\N,9/9,Unknown significance,\N,intron_variant,3.033,0.0008,1KG_AFR_AF,P2RX2
328734,12:133198015:ATCAGACGCCG>A,NM_170683.3:c.997-39_997-30del,\N,\N,9/9,Unknown significance,\N,intron_variant,2.779,\N,\N,P2RX2
328735,12:133198020:ACGCCG>A,NM_170683.3:c.997-40_997-36del,\N,\N,9/9,Unknown significance,\N,intron_variant,2.519,0.000151194,EXAC_FIN_AF,P2RX2
328736,12:133198021:C>T,NM_170683.3:c.997-40C>T,\N,\N,9/9,Benign,\N,intron_variant,0.581,0.779852,EXAC_EAS_AF,P2RX2
328737,12:133198022:G>A,NM_170683.3:c.997-39G>A,\N,\N,9/9,Unknown significance,\N,intron_variant,1.819,0.00136178,EVS_AA_AF,P2RX2
328738,12:133198022:G>T,NM_170683.3:c.997-39G>T,\N,\N,9/9,Unknown significance,\N,intron_variant,0.413,0.0000155125,EXAC_NFE_AF,P2RX2
328739,12:133198024:C>T,NM_170683.3:c.997-37C>T,\N,\N,9/9,Unknown significance,\N,intron_variant,1.984,0.000093985,EXAC_SAS_AF,P2RX2
328740,12:133198025:G>A,NM_170683.3:c.997-36G>A,\N,\N,9/9,Unknown significance,\N,intron_variant,0.012,\N,\N,P2RX2
328741,12:133198026:TCAGA>T,NM_170683.3:c.997-32_997-29del,\N,\N,9/9,Unknown significance,\N,intron_variant,\N,0.0000155357,EXAC_NFE_AF,P2RX2
328742,12:133198026:TCAGAC>T,NM_170683.3:c.997-34_997-30del,\N,\N,9/9,Unknown significance,\N,intron_variant,2.29,0.000151194,EXAC_FIN_AF,P2RX2
328743,12:133198028:A>C,NM_170683.3:c.997-33A>C,\N,\N,9/9,Unknown significance,\N,intron_variant,0.125,0.000015541,EXAC_NFE_AF,P2RX2
328744,12:133198028:A>G,NM_170683.3:c.997-33A>G,\N,\N,9/9,Unknown significance,\N,intron_variant,0.33,0.000453926,EVS_AA_AF,P2RX2
328745,12:133198032:A>C,NM_170683.3:c.997-29A>C,\N,\N,9/9,Unknown significance,\N,intron_variant,0.04,0.000116279,EVS_EA_AF,P2RX2
328746,12:133198032:A>G,NM_170683.3:c.997-29A>G,\N,\N,9/9,Unknown significance,\N,intron_variant,0.145,0.0000155477,EXAC_NFE_AF,P2RX2
328747,12:133198039:C>T,NM_170683.3:c.997-22C>T,\N,\N,9/9,Unknown significance,\N,intron_variant,0.411,0.0000467712,EXAC_NFE_AF,P2RX2
328748,12:133198042:C>T,NM_170683.3:c.997-19C>T,\N,\N,9/9,Unknown significance,\N,intron_variant,0.14,0.000101215,EXAC_SAS_AF,P2RX2
328749,12:133198055:C>T,NM_170683.3:c.997-6C>T,\N,\N,9/9,Unknown significance,\N,splice_region_variant&intron_variant,5.264,0.0000156372,EXAC_NFE_AF,P2RX2
328750,12:133198057:C>G,NM_170683.3:c.997-4C>G,\N,\N,9/9,Unknown significance,\N,splice_region_variant&intron_variant,5.087,\N,\N,P2RX2
328751,12:133198063:C>CG,NM_170683.3:c.1002dup,NP_733783.1:p.Lys335GlufsTer10,10/10,\N,Unknown significance,\N,frameshift_variant,\N,\N,\N,P2RX2
328752,12:133198064:G>A,NM_170683.3:c.1000G>A,NP_733783.1:p.Gly334Arg,10/10,\N,Unknown significance,\N,missense_variant,30,0.000116822,EXAC_EAS_AF,P2RX2
328753,12:133198065:G>A,NM_170683.3:c.1001G>A,NP_733783.1:p.Gly334Glu,10/10,\N,Unknown significance,\N,missense_variant,26.9,0.00046729,EXAC_EAS_AF,P2RX2
328754,12:133198073:A>G,NM_001282164.1:c.907A>G,NP_001269093.1:p.Ser303Gly,9/11,\N,Unknown significance,\N,missense_variant,24.1,0.001,1KG_SAS_AF,P2RX2
328755,12:133198099:G>A,NM_170683.3:c.1035G>A,NP_733783.1:p.Leu345=,10/10,\N,Unknown significance,\N,synonymous_variant,11.06,0.000106655,EXAC_SAS_AF,P2RX2
328756,12:133198102:C>T,NM_170683.3:c.1038C>T,NP_733783.1:p.Ala346=,10/10,\N,Unknown significance,\N,synonymous_variant,14.81,0.0000156548,EXAC_NFE_AF,P2RX2
328757,12:133198113:C>T,NM_170683.3:c.1049C>T,NP_733783.1:p.Thr350Ile,10/10,\N,Unknown significance,\N,missense_variant,25.9,0.000087184,EXAC_AMR_AF,P2RX2
328758,12:133198117:C>T,NM_170683.3:c.1053C>T,NP_733783.1:p.Ser351=,10/10,\N,Unknown significance,\N,synonymous_variant,13.71,0.0000312676,EXAC_NFE_AF,P2RX2
328759,12:133198118:G>A,NM_170683.3:c.1054G>A,NP_733783.1:p.Val352Ile,10/10,\N,Likely benign,\N,missense_variant,4.323,0.00103691,EXAC_SAS_AF,P2RX2
328760,12:133198120:C>T,NM_170683.3:c.1056C>T,NP_733783.1:p.Val352=,10/10,\N,Unknown significance,\N,synonymous_variant,13.52,0.0000871536,EXAC_AMR_AF,P2RX2
328761,12:133198121:G>C,NM_170683.3:c.1057G>C,NP_733783.1:p.Gly353Arg,10/10,\N,Pathogenic,Hearing loss| non-syndromic| autosomal dominant,missense_variant,25.7,\N,\N,P2RX2
328762,12:133198121:G>A,NM_170683.3:c.1057G>A,NP_733783.1:p.Gly353Arg,10/10,\N,Unknown significance,\N,missense_variant,26.3,0.001,1KG_EAS_AF,P2RX2
328763,12:133198135:C>T,NM_170683.3:c.1071C>T,NP_733783.1:p.Asn357=,10/10,\N,Unknown significance,\N,synonymous_variant,0.947,0.0000155749,EXAC_NFE_AF,P2RX2
328764,12:133198144:G>A,NM_170683.3:c.1080G>A,NP_733783.1:p.Trp360Ter,10/10,\N,Unknown significance,\N,stop_gained,35,0.000116279,EVS_EA_AF,P2RX2
328765,12:133198153:C>A,NM_170683.3:c.1089C>A,NP_733783.1:p.Ser363Arg,10/10,\N,Likely benign,\N,missense_variant,7.95,0.000116279,EVS_EA_AF,P2RX2
328766,12:133198154:G>A,NM_170683.3:c.1090G>A,NP_733783.1:p.Gly364Arg,10/10,\N,Likely benign,\N,missense_variant,23.1,0.000178221,EXAC_SAS_AF,P2RX2
328767,12:133198159:C>CG,NM_170683.3:c.1101dup,NP_733783.1:p.Ser368ValfsTer35,10/10,\N,Unknown significance,\N,frameshift_variant,24,0.000174642,EXAC_SAS_AF,P2RX2
328768,12:133198159:C>T,NM_170683.3:c.1095C>T,NP_733783.1:p.Cys365=,10/10,\N,Unknown significance,\N,synonymous_variant,8.707,0.000232558,EVS_EA_AF,P2RX2
328769,12:133198160:G>A,NM_170683.3:c.1096G>A,NP_733783.1:p.Gly366Arg,10/10,\N,Likely benign,\N,missense_variant,0.322,0.00118483,EXAC_OTH_AF,P2RX2
328770,12:133198161:G>A,NM_170683.3:c.1097G>A,NP_733783.1:p.Gly366Glu,10/10,\N,Likely benign,\N,missense_variant,4.597,0.0014,1KG_AMR_AF,P2RX2
328771,12:133198162:G>A,NM_170683.3:c.1098G>A,NP_733783.1:p.Gly366=,10/10,\N,Unknown significance,\N,synonymous_variant,0.6,0.000174155,EXAC_AMR_AF,P2RX2
328772,12:133198164:G>A,NM_170683.3:c.1100G>A,NP_733783.1:p.Gly367Glu,10/10,\N,Likely benign,\N,missense_variant,0.013,0.000116198,EXAC_EAS_AF,P2RX2
328773,12:133198166:T>C,NM_170683.3:c.1102T>C,NP_733783.1:p.Ser368Pro,10/10,\N,Likely benign,\N,missense_variant,0.002,0.000116198,EXAC_EAS_AF,P2RX2
328774,12:133198166:T>G,NM_170683.3:c.1102T>G,NP_733783.1:p.Ser368Ala,10/10,\N,Likely benign,\N,missense_variant,0.001,0,EXAC_ALL_AF|EXAC_AFR_AF|EXAC_AMR_AF|EXAC_EAS_AF|EXAC_FIN_AF|EXAC_NFE_AF|EXAC_OTH_AF|EXAC_SAS_AF,P2RX2
328775,12:133198167:C>T,NM_170683.3:c.1103C>T,NP_733783.1:p.Ser368Phe,10/10,\N,Likely benign,\N,missense_variant,1.178,0.0000153785,EXAC_NFE_AF,P2RX2
328776,12:133198170:C>G,NM_170683.3:c.1106C>G,NP_733783.1:p.Thr369Ser,10/10,\N,Likely benign,\N,missense_variant,0.009,\N,\N,P2RX2
328777,12:133198174:G>A,NM_170683.3:c.1110G>A,NP_733783.1:p.Arg370=,10/10,\N,Benign,\N,synonymous_variant,3.184,0.0072,1KG_SAS_AF,P2RX2
328778,12:133198181:C>T,NM_170683.3:c.1117C>T,NP_733783.1:p.His373Tyr,10/10,\N,Likely benign,\N,missense_variant,0.001,0.0000611434,EXAC_NFE_AF,P2RX2
328779,12:133198185:C>G,NM_170683.3:c.1121C>G,NP_733783.1:p.Thr374Ser,10/10,\N,Likely benign,\N,missense_variant,0.001,0.000438276,EXAC_SAS_AF,P2RX2
328780,12:133198186:C>T,NM_170683.3:c.1122C>T,NP_733783.1:p.Thr374=,10/10,\N,Unknown significance,\N,synonymous_variant,9.285,0.000226963,EVS_AA_AF,P2RX2
328781,12:133198187:G>A,NM_170683.3:c.1123G>A,NP_733783.1:p.Gly375Ser,10/10,\N,Likely benign,\N,missense_variant,0.18,0.002,1KG_SAS_AF,P2RX2
328782,12:133198187:G>C,NM_170683.3:c.1123G>C,NP_733783.1:p.Gly375Arg,10/10,\N,Likely benign,\N,missense_variant,1.38,0.0000723694,EXAC_SAS_AF,P2RX2
328783,12:133198187:G>T,NM_170683.3:c.1123G>T,NP_733783.1:p.Gly375Cys,10/10,\N,Likely benign,\N,missense_variant,5.617,0.0000152597,EXAC_NFE_AF,P2RX2
328784,12:133198200:C>T,NM_170683.3:c.1136C>T,NP_733783.1:p.Pro379Leu,10/10,\N,Likely benign,\N,missense_variant,11,0.0000152161,EXAC_NFE_AF,P2RX2
328785,12:133198204:G>A,NM_001282164.1:c.961-1G>A,\N,\N,9/10,Unknown significance,\N,splice_acceptor_variant,0.201,0.0000151962,EXAC_NFE_AF,P2RX2
328786,12:133198215:T>C,NM_170683.3:c.1151T>C,NP_733783.1:p.Leu384Pro,10/10,\N,Unknown significance,\N,missense_variant,23.8,0.0000151465,EXAC_NFE_AF,P2RX2
328787,12:133198216:G>C,NM_170683.3:c.1152G>C,NP_733783.1:p.Leu384=,10/10,\N,Unknown significance,\N,synonymous_variant,3.366,0.001,1KG_EAS_AF,P2RX2
328788,12:133198218:G>A,NM_170683.3:c.1154G>A,NP_733783.1:p.Cys385Tyr,10/10,\N,Unknown significance,\N,missense_variant,25.7,0.0000151391,EXAC_NFE_AF,P2RX2
328789,12:133198219:C>A,NM_170683.3:c.1155C>A,NP_733783.1:p.Cys385Ter,10/10,\N,Unknown significance,\N,stop_gained,35,0.000136248,EXAC_NFE_AF,P2RX2
328790,12:133198219:C>T,NM_170683.3:c.1155C>T,NP_733783.1:p.Cys385=,10/10,\N,Unknown significance,\N,synonymous_variant,12.04,0.0000605547,EXAC_NFE_AF,P2RX2
328791,12:133198220:G>A,NM_170683.3:c.1156G>A,NP_733783.1:p.Asp386Asn,10/10,\N,Unknown significance,\N,missense_variant,32,0.0000658068,EXAC_SAS_AF,P2RX2
328792,12:133198220:G>T,NM_170683.3:c.1156G>T,NP_733783.1:p.Asp386Tyr,10/10,\N,Unknown significance,\N,missense_variant,29.8,0.0000658068,EXAC_SAS_AF,P2RX2
328793,12:133198222:C>A,NM_170683.3:c.1158C>A,NP_733783.1:p.Asp386Glu,10/10,\N,Unknown significance,\N,missense_variant,31,0.0000302499,EXAC_NFE_AF,P2RX2
328794,12:133198223:TG>T,NM_170683.3:c.1161del,NP_733783.1:p.Trp387Ter,10/10,\N,Unknown significance,\N,frameshift_variant,35,\N,\N,P2RX2
328795,12:133198227:T>G,NM_170683.3:c.1163T>G,NP_733783.1:p.Ile388Ser,10/10,\N,Unknown significance,\N,missense_variant,32,0.000045346,EXAC_NFE_AF,P2RX2
328796,12:133198232:C>G,NM_170683.3:c.1168C>G,NP_733783.1:p.Leu390Val,10/10,\N,Unknown significance,\N,missense_variant,25.6,0.0000865501,EXAC_AMR_AF,P2RX2
328797,12:133198239:T>C,NM_170683.3:c.1175T>C,NP_733783.1:p.Phe392Ser,10/10,\N,Unknown significance,\N,missense_variant,27.1,0.00111857,EXAC_OTH_AF,P2RX2
328798,12:133198242:T>A,NM_170683.3:c.1178T>A,NP_733783.1:p.Met393Lys,10/10,\N,Unknown significance,\N,missense_variant,27.7,\N,\N,P2RX2
328799,12:133198242:T>G,NM_170683.3:c.1178T>G,NP_733783.1:p.Met393Arg,10/10,\N,Unknown significance,\N,missense_variant,26.5,\N,\N,P2RX2
328800,12:133198243:G>T,NM_170683.3:c.1179G>T,NP_733783.1:p.Met393Ile,10/10,\N,Unknown significance,\N,missense_variant,23.2,0.0000150811,EXAC_NFE_AF,P2RX2
328801,12:133198246:C>CA,NM_170683.3:c.1187dup,NP_733783.1:p.Asn396LysfsTer7,10/10,\N,Unknown significance,\N,frameshift_variant,35,0.0000301559,EXAC_NFE_AF,P2RX2
328802,12:133198246:C>T,NM_170683.3:c.1182C>T,NP_733783.1:p.Asn394=,10/10,\N,Unknown significance,\N,synonymous_variant,11.91,0.000015078,EXAC_NFE_AF,P2RX2
328803,12:133198248:A>G,NM_001282164.1:c.1004A>G,NP_001269093.1:p.Lys335Arg,10/11,\N,Unknown significance,\N,missense_variant,24.9,\N,\N,P2RX2
328804,12:133198259:T>C,NM_170683.3:c.1195T>C,NP_733783.1:p.Tyr399His,10/10,\N,Unknown significance,\N,missense_variant,27.5,0.0000865052,EXAC_AMR_AF,P2RX2
328805,12:133198260:A>C,NM_170683.3:c.1196A>C,NP_733783.1:p.Tyr399Ser,10/10,\N,Unknown significance,\N,missense_variant,27.3,\N,\N,P2RX2
328806,12:133198260:A>T,NM_170683.3:c.1196A>T,NP_733783.1:p.Tyr399Phe,10/10,\N,Unknown significance,\N,missense_variant,26.6,\N,\N,P2RX2
328807,12:133198266:A>G,NM_170683.3:c.1202A>G,NP_733783.1:p.His401Arg,10/10,\N,Unknown significance,\N,missense_variant,10.88,0.0000452011,EXAC_NFE_AF,P2RX2
328808,12:133198275:T>C,NM_170683.3:c.1211T>C,NP_733783.1:p.Phe404Ser,10/10,\N,Unknown significance,\N,missense_variant,27.6,0.00048151,EXAC_AFR_AF,P2RX2
328809,12:133198277:G>A,NM_170683.3:c.1213G>A,NP_733783.1:p.Asp405Asn,10/10,\N,Unknown significance,\N,missense_variant,32,0.001,1KG_EUR_AF,P2RX2
328810,12:133198278:A>G,NM_170683.3:c.1214A>G,NP_733783.1:p.Asp405Gly,10/10,\N,Unknown significance,\N,missense_variant,28.8,0.000462321,EXAC_EAS_AF,P2RX2
328811,12:133198283:G>A,NM_001282164.1:c.1038+1G>A,\N,\N,10/10,Unknown significance,\N,splice_donor_variant,22.6,\N,\N,P2RX2
328812,12:133198285:G>A,NM_170683.3:c.1221G>A,NP_733783.1:p.Val407=,10/10,\N,Unknown significance,\N,synonymous_variant,9.107,0.000362024,EXAC_NFE_AF,P2RX2
328813,12:133198285:G>T,NM_170683.3:c.1221G>T,NP_733783.1:p.Val407=,10/10,\N,Unknown significance,\N,synonymous_variant,8.272,0.0000642508,EXAC_SAS_AF,P2RX2
328814,12:133198286:T>C,NM_170683.3:c.1222T>C,NP_733783.1:p.Cys408Arg,10/10,\N,Likely benign,\N,missense_variant,8.943,0.0031,1KG_SAS_AF,P2RX2
328815,12:133198288:T>C,NM_170683.3:c.1224T>C,NP_733783.1:p.Cys408=,10/10,\N,Unknown significance,\N,synonymous_variant,0.046,0.0000646329,EXAC_SAS_AF,P2RX2
328816,12:133198290:C>T,NM_170683.3:c.1226C>T,NP_733783.1:p.Thr409Met,10/10,\N,Unknown significance,\N,missense_variant,18.89,0.000181181,EXAC_NFE_AF,P2RX2
328817,12:133198291:G>A,NM_170683.3:c.1227G>A,NP_733783.1:p.Thr409=,10/10,\N,Unknown significance,\N,synonymous_variant,9.648,0.0000649688,EXAC_SAS_AF,P2RX2
328818,12:133198293:C>T,NM_012226.3:c.935C>T,NP_036358.2:p.Pro312Leu,9/9,\N,Likely benign,\N,missense_variant,24,0.00115607,EXAC_EAS_AF,P2RX2
328819,12:133198294:G>A,NM_170683.3:c.1230G>A,NP_733783.1:p.Pro410=,10/10,\N,Unknown significance,\N,synonymous_variant,4.648,0.003,1KG_EAS_AF,P2RX2
328820,12:133198294:G>T,NM_170683.3:c.1230G>T,NP_733783.1:p.Pro410=,10/10,\N,Unknown significance,\N,synonymous_variant,2.407,0.000130293,EXAC_SAS_AF,P2RX2
328821,12:133198304:T>C,NM_170683.3:c.1240T>C,NP_733783.1:p.Ser414Pro,10/10,\N,Likely benign,\N,missense_variant,0.634,0.001,1KG_SAS_AF,P2RX2
328822,12:133198316:C>T,NM_012226.3:c.958C>T,NP_036358.2:p.Pro320Ser,9/9,\N,Unknown significance,\N,missense_variant,23.2,0.0000151823,EXAC_NFE_AF,P2RX2
328823,12:133198318:T>C,NM_170683.3:c.1254T>C,NP_733783.1:p.Pro418=,10/10,\N,Unknown significance,\N,synonymous_variant,0.315,0.0029,1KG_AMR_AF,P2RX2
328824,12:133198326:T>C,NM_170683.3:c.1262T>C,NP_733783.1:p.Leu421Pro,10/10,\N,Unknown significance,\N,missense_variant,4.937,0.0000152045,EXAC_NFE_AF,P2RX2
328825,12:133198327:T>C,NM_170683.3:c.1263T>C,NP_733783.1:p.Leu421=,10/10,\N,Unknown significance,\N,synonymous_variant,0.009,0.001,1KG_SAS_AF,P2RX2
328826,12:133198331:C>T,NM_012226.3:c.973C>T,NP_036358.2:p.Arg325Cys,9/9,\N,Likely benign,\N,missense_variant,15.85,0.0008,1KG_AFR_AF,P2RX2
328827,12:133198332:G>A,NM_170683.3:c.1268G>A,NP_733783.1:p.Arg423His,10/10,\N,Likely benign,\N,missense_variant,0.051,0.000116279,EVS_EA_AF,P2RX2
328828,12:133198336:A>T,NM_170683.3:c.1272A>T,NP_733783.1:p.Val424=,10/10,\N,Unknown significance,\N,synonymous_variant,0.005,0.00030303,EXAC_FIN_AF,P2RX2
328829,12:133198339:G>C,NM_012226.3:c.981G>C,NP_036358.2:p.Leu327Phe,9/9,\N,Unknown significance,\N,missense_variant,24.1,0.0000152574,EXAC_NFE_AF,P2RX2
328830,12:133198340:G>C,NM_170683.3:c.1276G>C,NP_733783.1:p.Gly426Arg,10/10,\N,Unknown significance,\N,missense_variant,17.72,\N,\N,P2RX2
328831,12:133198344:A>C,NM_170683.3:c.1280A>C,NP_733783.1:p.Gln427Pro,10/10,\N,Unknown significance,\N,missense_variant,21.6,0.000292512,EXAC_AFR_AF,P2RX2
328832,12:133198347:C>A,NM_170683.3:c.1283C>A,NP_733783.1:p.Ala428Asp,10/10,\N,Unknown significance,\N,missense_variant,16.83,0.000116198,EXAC_EAS_AF,P2RX2
328833,12:133198354:C>T,NM_170683.3:c.1290C>T,NP_733783.1:p.Pro430=,10/10,\N,Unknown significance,\N,synonymous_variant,11.5,0.000116252,EXAC_EAS_AF,P2RX2
328834,12:133198355:G>A,NM_170683.3:c.1291G>A,NP_733783.1:p.Glu431Lys,10/10,\N,Likely benign,\N,missense_variant,8.701,0.000195771,EXAC_AFR_AF,P2RX2
328835,12:133198357:A>T,NM_170683.3:c.1293A>T,NP_733783.1:p.Glu431Asp,10/10,\N,Likely benign,\N,missense_variant,0.002,0.0000870322,EXAC_AMR_AF,P2RX2
328836,12:133198359:C>A,NM_170683.3:c.1295C>A,NP_733783.1:p.Pro432His,10/10,\N,Likely benign,\N,missense_variant,18.5,0.0000870019,EXAC_AMR_AF,P2RX2
328837,12:133198360:C>T,NM_170683.3:c.1296C>T,NP_733783.1:p.Pro432=,10/10,\N,Unknown significance,\N,synonymous_variant,8.205,0.0008,1KG_AFR_AF,P2RX2
328838,12:133198361:G>A,NM_170683.3:c.1297G>A,NP_733783.1:p.Gly433Ser,10/10,\N,Likely benign,\N,missense_variant,0.008,0.000151745,EXAC_FIN_AF,P2RX2
328839,12:133198367:C>T,NM_170683.3:c.1303C>T,NP_733783.1:p.Arg435Cys,10/10,\N,Likely benign,\N,missense_variant,11.74,0.001,1KG_EAS_AF,P2RX2
328840,12:133198368:G>A,NM_170683.3:c.1304G>A,NP_733783.1:p.Arg435His,10/10,\N,Likely benign,\N,missense_variant,6.096,0.0000870474,EXAC_AMR_AF,P2RX2
328841,12:133198372:C>G,NM_170683.3:c.1308C>G,NP_733783.1:p.Ser436=,10/10,\N,Unknown significance,\N,synonymous_variant,8.3,0.000073779,EXAC_SAS_AF,P2RX2
328842,12:133198372:C>T,NM_170683.3:c.1308C>T,NP_733783.1:p.Ser436=,10/10,\N,Unknown significance,\N,synonymous_variant,10.46,0.000589044,EXAC_AFR_AF,P2RX2
328843,12:133198373:G>A,NM_170683.3:c.1309G>A,NP_733783.1:p.Glu437Lys,10/10,\N,Likely benign,\N,missense_variant,1.778,0.0008,1KG_AFR_AF,P2RX2
328844,12:133198374:A>T,NM_170683.3:c.1310A>T,NP_733783.1:p.Glu437Val,10/10,\N,Likely benign,\N,missense_variant,0.459,0.0000153822,EXAC_NFE_AF,P2RX2
328845,12:133198376:G>C,NM_170683.3:c.1312G>C,NP_733783.1:p.Asp438His,10/10,\N,Unknown significance,\N,missense_variant,20.5,0.000226963,EVS_AA_AF,P2RX2
328846,12:133198381:G>C,NM_170683.3:c.1317G>C,NP_733783.1:p.Gln439His,10/10,\N,Likely benign,\N,missense_variant,19.56,0.001,1KG_SAS_AF,P2RX2
328847,12:133198384:C>T,NM_170683.3:c.1320C>T,NP_733783.1:p.His440=,10/10,\N,Unknown significance,\N,synonymous_variant,1.06,0.0000727908,EXAC_SAS_AF,P2RX2
328848,12:133198390:C>A,NM_170683.3:c.1326C>A,NP_733783.1:p.Ser442Arg,10/10,\N,Likely benign,\N,missense_variant,8.641,0.00104475,EXAC_AMR_AF,P2RX2
328849,12:133198396:A>G,NM_170683.3:c.1332A>G,NP_733783.1:p.Pro444=,10/10,\N,Unknown significance,\N,synonymous_variant,0.052,0.0000711946,EXAC_SAS_AF,P2RX2
328850,12:133198408:G>T,NM_170683.3:c.1344G>T,NP_733783.1:p.Glu448Asp,10/10,\N,Likely benign,\N,missense_variant,0.134,0.0000693674,EXAC_SAS_AF,P2RX2
328851,12:133198412:C>T,NM_170683.3:c.1348C>T,NP_733783.1:p.Gln450Ter,10/10,\N,Unknown significance,\N,stop_gained,35,0.0000153685,EXAC_NFE_AF,P2RX2
328852,12:133198415:C>T,NM_170683.3:c.1351C>T,NP_733783.1:p.Gln451Ter,10/10,\N,Unknown significance,\N,stop_gained,35,0.000453926,EVS_AA_AF,P2RX2
328853,12:133198417:A>C,NM_170683.3:c.1353A>C,NP_733783.1:p.Gln451His,10/10,\N,Unknown significance,\N,missense_variant,10.04,0.000226963,EVS_AA_AF,P2RX2
328854,12:133198420:G>A,NM_170683.3:c.1356G>A,NP_733783.1:p.Gly452=,10/10,\N,Unknown significance,\N,synonymous_variant,0.709,0.000153468,EXAC_NFE_AF,P2RX2
328855,12:133198421:G>A,NM_012226.3:c.1063G>A,NP_036358.2:p.Ala355Thr,9/9,\N,Unknown significance,\N,missense_variant,8.725,0.0000675493,EXAC_SAS_AF,P2RX2
328856,12:133198422:CAG>C,NM_170683.3:c.1361_1362del,NP_733783.1:p.Glu454ValfsTer18,10/10,\N,Unknown significance,\N,frameshift_variant,24,0.000116604,EXAC_EAS_AF,P2RX2
328857,12:133198423:A>G,NM_170683.3:c.1359A>G,NP_733783.1:p.Ala453=,10/10,\N,Unknown significance,\N,synonymous_variant,0.029,\N,\N,P2RX2
328858,12:133198430:G>T,NM_170683.3:c.1366G>T,NP_733783.1:p.Gly456Cys,10/10,\N,Likely benign,\N,missense_variant,22,0.0000153182,EXAC_NFE_AF,P2RX2
328859,12:133198433:C>T,NM_170683.3:c.1369C>T,NP_733783.1:p.Pro457Ser,10/10,\N,Likely benign,\N,missense_variant,2.366,0.001,1KG_EAS_AF,P2RX2
328860,12:133198437:C>G,NM_170683.3:c.1373C>G,NP_733783.1:p.Ala458Gly,10/10,\N,Likely benign,\N,missense_variant,0.564,0.001,1KG_EUR_AF,P2RX2
328861,12:133198441:C>T,NM_170683.3:c.1377C>T,NP_733783.1:p.Phe459=,10/10,\N,Unknown significance,\N,synonymous_variant,5.689,0.0000152943,EXAC_NFE_AF,P2RX2
328862,12:133198443:C>T,NM_170683.3:c.1379C>T,NP_733783.1:p.Pro460Leu,10/10,\N,Likely benign,\N,missense_variant,2.138,\N,\N,P2RX2
328863,12:133198444:G>A,NM_170683.3:c.1380G>A,NP_733783.1:p.Pro460=,10/10,\N,Benign,\N,synonymous_variant,0.925,0.0575,1KG_AFR_AF,P2RX2
328864,12:133198446:C>T,NM_170683.3:c.1382C>T,NP_733783.1:p.Pro461Leu,10/10,\N,Likely benign,\N,missense_variant,5.891,0.000064317,EXAC_SAS_AF,P2RX2
328865,12:133198448:C>T,NM_170683.3:c.1384C>T,NP_733783.1:p.Leu462=,10/10,\N,Unknown significance,\N,synonymous_variant,3.522,0.0000152597,EXAC_NFE_AF,P2RX2
328866,12:133198451:C>T,NM_174872.1:c.1033C>T,NP_777361.1:p.Arg345Trp,9/9,\N,Likely benign,\N,missense_variant,16.78,0.000226963,EVS_AA_AF,P2RX2
328867,12:133198452:G>A,NM_170683.3:c.1388G>A,NP_733783.1:p.Arg463Gln,10/10,\N,Likely benign,\N,missense_variant,1.787,0.0000914885,EXAC_NFE_AF,P2RX2
328868,12:133198453:G>A,NM_170683.3:c.1389G>A,NP_733783.1:p.Arg463=,10/10,\N,Unknown significance,\N,synonymous_variant,0.639,0.000116279,EVS_EA_AF,P2RX2
328869,12:133198463:A>C,NM_170683.3:c.1399A>C,NP_733783.1:p.Ile467Leu,10/10,\N,Likely benign,\N,missense_variant,5.319,0.0000152179,EXAC_NFE_AF,P2RX2
328870,12:133198463:ATCTCTGCCCCT>A,NM_170683.3:c.1403_1413del,NP_733783.1:p.Ser468Ter,10/10,\N,Benign,\N,frameshift_variant,31,0.0446,1KG_AFR_AF,P2RX2
328871,12:133198474:T>A,NM_170683.3:c.1410T>A,NP_733783.1:p.Pro470=,10/10,\N,Benign,\N,synonymous_variant,0.029,0.0181653,EVS_AA_AF,P2RX2
328872,12:133198477:T>G,NM_170683.3:c.1413T>G,NP_733783.1:p.Ser471=,10/10,\N,Unknown significance,\N,synonymous_variant,0.093,0.0000152036,EXAC_NFE_AF,P2RX2
328873,12:133198486:G>A,NM_170683.3:c.1422G>A,NP_733783.1:p.Met474Ile,10/10,\N,Likely benign,\N,missense_variant,9.354,0.0000152031,EXAC_NFE_AF,P2RX2
328874,12:133198498:T>G,NM_170683.3:c.1434T>G,NP_733783.1:p.Pro478=,10/10,\N,Unknown significance,\N,synonymous_variant,0.092,0.000045683,EXAC_NFE_AF,P2RX2
328875,12:133198502:T>C,NM_170683.3:c.1438T>C,NP_733783.1:p.Ser480Pro,10/10,\N,Likely benign,\N,missense_variant,1.926,\N,\N,P2RX2
328876,12:133198504:C>T,NM_170683.3:c.1440C>T,NP_733783.1:p.Ser480=,10/10,\N,Unknown significance,\N,synonymous_variant,11.24,0.000116063,EXAC_EAS_AF,P2RX2
328877,12:133198505:G>A,NM_012226.3:c.1147G>A,NP_036358.2:p.Glu383Lys,9/9,\N,Likely benign,\N,missense_variant,13.46,0.001,1KG_EUR_AF,P2RX2
328878,12:133198517:G>A,NM_170683.3:c.1453G>A,NP_733783.1:p.Ala485Thr,10/10,\N,Likely benign,\N,missense_variant,10.39,0.000151286,EXAC_FIN_AF,P2RX2
328879,12:133198517:G>GC,NM_170683.3:c.1455dup,NP_733783.1:p.Ser486LeufsTer34,10/10,\N,Unknown significance,\N,frameshift_variant,24.7,0.000101317,EXAC_AFR_AF,P2RX2
328880,12:133198518:C>T,NM_170683.3:c.1454C>T,NP_733783.1:p.Ala485Val,10/10,\N,Benign,\N,missense_variant,18.93,0.006,1KG_EAS_AF,P2RX2
328881,12:133198525:A>G,NM_170683.3:c.1461A>G,NP_733783.1:p.Thr487=,10/10,\N,Unknown significance,\N,synonymous_variant,0.003,0.000102187,EXAC_AFR_AF,P2RX2
328882,12:133198537:C>T,NM_170683.3:c.1473C>T,NP_733783.1:p.Pro491=,10/10,\N,Unknown significance,\N,synonymous_variant,11.25,0.0000152835,EXAC_NFE_AF,P2RX2
328883,12:133198544:T>G,NM_170683.3:c.1480T>G,NP_733783.1:p.Leu494Val,10/10,\N,Likely benign,\N,missense_variant,23.7,0.0000152999,EXAC_NFE_AF,P2RX2
328884,12:133198551:A>G,NM_170683.3:c.1487A>G,NP_733783.1:p.Gln496Arg,10/10,\N,Likely benign,\N,missense_variant,23.9,0.000244111,EXAC_SAS_AF,P2RX2
328885,12:133198555:C>T,NM_170683.3:c.1491C>T,NP_733783.1:p.Leu497=,10/10,\N,Unknown significance,\N,synonymous_variant,11.81,0.001,1KG_SAS_AF,P2RX2
328886,12:133198556:T>C,NM_170683.3:c.1492T>C,NP_733783.1:p.Ter498ArgextTer92,10/10,\N,Unknown significance,\N,stop_lost,23.5,0.000348756,EXAC_EAS_AF,P2RX2
328887,12:133198559:GCTC>G,NM_170683.3:c.*4_*6del,\N,10/10,\N,Unknown significance,\N,3_prime_UTR_variant,14.81,0.000104384,EXAC_AFR_AF,P2RX2
328888,12:133198573:C>T,NM_170683.3:c.*15C>T,\N,10/10,\N,Unknown significance,\N,3_prime_UTR_variant,1.932,0.0000154116,EXAC_NFE_AF,P2RX2
328889,12:133198578:G>A,NM_170683.3:c.*20G>A,\N,10/10,\N,Unknown significance,\N,3_prime_UTR_variant,1.664,0.0000618888,EXAC_SAS_AF,P2RX2
328890,12:133198581:T>A,NM_170683.3:c.*23T>A,\N,10/10,\N,Unknown significance,\N,3_prime_UTR_variant,7.551,0.00181598,EXAC_FIN_AF,P2RX2
328891,12:133198585:G>A,NM_170683.3:c.*27G>A,\N,10/10,\N,Unknown significance,\N,3_prime_UTR_variant,5.308,0.0014,1KG_AMR_AF,P2RX2
328892,12:133198588:C>T,NM_170683.3:c.*30C>T,\N,10/10,\N,Unknown significance,\N,3_prime_UTR_variant,5.719,0.0000155149,EXAC_NFE_AF,P2RX2
328893,12:133198589:C>T,NM_170683.3:c.*31C>T,\N,10/10,\N,Benign,\N,3_prime_UTR_variant,2.467,0.181795,EXAC_AMR_AF,P2RX2
328894,12:133198590:G>A,NM_170683.3:c.*32G>A,\N,10/10,\N,Unknown significance,\N,3_prime_UTR_variant,4.077,0.00163361,EXAC_EAS_AF,P2RX2
328895,12:133198590:G>T,NM_170683.3:c.*32G>T,\N,10/10,\N,Unknown significance,\N,3_prime_UTR_variant,2.478,0.000086881,EXAC_AMR_AF,P2RX2
328896,12:133198591:G>A,NM_170683.3:c.*33G>A,\N,10/10,\N,Unknown significance,\N,3_prime_UTR_variant,4.201,0.000228415,EVS_AA_AF,P2RX2
328897,12:133198594:T>C,NM_170683.3:c.*36T>C,\N,10/10,\N,Unknown significance,\N,3_prime_UTR_variant,1.298,0.000086881,EXAC_AMR_AF,P2RX2
328898,12:133198596:G>T,NM_170683.3:c.*38G>T,\N,10/10,\N,Unknown significance,\N,3_prime_UTR_variant,0.766,0.00116659,EXAC_EAS_AF,P2RX2
328899,12:133198601:G>C,NM_170683.3:c.*43G>C,\N,10/10,\N,Unknown significance,\N,3_prime_UTR_variant,1.052,0.000117316,EVS_EA_AF,P2RX2
328900,12:133198603:CAG>C,NM_170683.3:c.*50_*51del,\N,10/10,\N,Unknown significance,\N,3_prime_UTR_variant,5.859,0.000466853,EXAC_EAS_AF,P2RX2
328901,12:133198603:C>G,NM_170683.3:c.*45C>G,\N,10/10,\N,Unknown significance,\N,3_prime_UTR_variant,3.68,0.0000467873,EXAC_NFE_AF,P2RX2
328902,12:133198607:G>A,NM_170683.3:c.*49G>A,\N,10/10,\N,Unknown significance,\N,3_prime_UTR_variant,1.585,0.001,1KG_SAS_AF,P2RX2
328903,12:133198609:G>A,NM_170683.3:c.*51G>A,\N,10/10,\N,Unknown significance,\N,3_prime_UTR_variant,3.317,0.0000870171,EXAC_AMR_AF,P2RX2
328904,12:133198616:G>T,NM_170683.3:c.*58G>T,\N,10/10,\N,Unknown significance,\N,3_prime_UTR_variant,1.159,0.0014,1KG_AMR_AF,P2RX2
328905,12:133198630:C>T,NM_170683.3:c.*72C>T,\N,10/10,\N,Unknown significance,\N,3_prime_UTR_variant,3.365,0.0014,1KG_AMR_AF,P2RX2
328906,12:133198653:C>T,NM_170683.3:c.*95C>T,\N,10/10,\N,Unknown significance,\N,3_prime_UTR_variant,5.033,0.0043,1KG_AMR_AF,P2RX2
328907,12:133198654:G>A,NM_170683.3:c.*96G>A,\N,10/10,\N,Unknown significance,\N,3_prime_UTR_variant,0.007,0.001,1KG_EAS_AF|1KG_EUR_AF|1KG_SAS_AF,P2RX2
328908,12:133198666:C>T,NM_170683.3:c.*108C>T,\N,10/10,\N,Unknown significance,\N,3_prime_UTR_variant,0.458,0.003,1KG_AFR_AF,P2RX2
328909,12:133198671:C>T,NM_170683.3:c.*113C>T,\N,10/10,\N,Unknown significance,\N,3_prime_UTR_variant,4.107,\N,\N,P2RX2
328910,12:133198709:C>T,NM_170683.3:c.*151C>T,\N,10/10,\N,Unknown significance,\N,3_prime_UTR_variant,0.1,\N,\N,P2RX2
328911,12:133198711:C>A,NM_170683.3:c.*153C>A,\N,10/10,\N,Benign,\N,3_prime_UTR_variant,4.103,0.0552,1KG_AFR_AF,P2RX2
328912,12:133198750:CCT>C,NM_170683.3:c.*193_*194del,\N,10/10,\N,Benign,\N,3_prime_UTR_variant,2.58,0.0144,1KG_AFR_AF,P2RX2
328913,12:133198754:A>G,NM_170683.3:c.*196A>G,\N,10/10,\N,Unknown significance,\N,3_prime_UTR_variant,2.138,0.001,1KG_EUR_AF,P2RX2
328914,12:133198764:C>T,NM_170683.3:c.*206C>T,\N,10/10,\N,Benign,\N,3_prime_UTR_variant,4.481,0.0098,1KG_AFR_AF,P2RX2
328915,12:133198790:A>G,NM_170683.3:c.*232A>G,\N,10/10,\N,Unknown significance,\N,3_prime_UTR_variant,11.05,0.001,1KG_SAS_AF,P2RX2
328916,12:133198796:C>T,NM_170683.3:c.*238C>T,\N,10/10,\N,Unknown significance,\N,3_prime_UTR_variant,11.33,0.0008,1KG_AFR_AF,P2RX2
328917,12:133198810:G>A,NM_170683.3:c.*252G>A,\N,10/10,\N,Benign,\N,3_prime_UTR_variant,8.445,0.0053,1KG_AFR_AF,P2RX2
328918,12:133198826:G>A,NM_170683.3:c.*268G>A,\N,10/10,\N,Unknown significance,\N,3_prime_UTR_variant,8.141,0.0008,1KG_AFR_AF,P2RX2
328919,12:133198845:G>GCTCT,NM_170683.3:c.*288_*291dup,\N,10/10,\N,Unknown significance,\N,3_prime_UTR_variant,\N,\N,\N,P2RX2
328920,12:133198855:C>T,NM_170683.3:c.*297C>T,\N,10/10,\N,Unknown significance,\N,3_prime_UTR_variant,1.576,0.0043,1KG_AMR_AF,P2RX2
328921,12:133198856:G>A,NM_170683.3:c.*298G>A,\N,10/10,\N,Unknown significance,\N,3_prime_UTR_variant,1.875,\N,\N,P2RX2
328922,12:133198867:C>CT,NM_170683.3:c.*310dup,\N,10/10,\N,Unknown significance,\N,3_prime_UTR_variant,\N,\N,\N,P2RX2
328923,12:133198871:G>A,NM_170683.3:c.*313G>A,\N,10/10,\N,Unknown significance,\N,3_prime_UTR_variant,0.675,0.0023,1KG_AFR_AF,P2RX2
328924,12:133198879:C>T,NM_170683.3:c.*321C>T,\N,10/10,\N,Unknown significance,\N,3_prime_UTR_variant,2.042,0.003,1KG_AFR_AF,P2RX2
328925,12:133198899:G>A,NM_170683.3:c.*341G>A,\N,10/10,\N,Unknown significance,\N,3_prime_UTR_variant,0.47,0.003,1KG_EUR_AF,P2RX2
328926,12:133198907:C>A,NM_170683.3:c.*349C>A,\N,10/10,\N,Unknown significance,\N,3_prime_UTR_variant,1.654,\N,\N,P2RX2
328927,12:133198909:T>C,NM_170683.3:c.*351T>C,\N,10/10,\N,Benign,\N,3_prime_UTR_variant,0.518,0.8896,1KG_AFR_AF,P2RX2
328928,12:133198920:A>G,NM_170683.3:c.*362A>G,\N,10/10,\N,Benign,\N,3_prime_UTR_variant,3.988,0.0098,1KG_AFR_AF,P2RX2
328929,12:133198957:A>AT,NM_170683.3:c.*400dup,\N,10/10,\N,Unknown significance,\N,3_prime_UTR_variant,5.542,0.0023,1KG_AFR_AF,P2RX2
328930,12:133198967:G>C,NM_170683.3:c.*409G>C,\N,10/10,\N,Unknown significance,\N,3_prime_UTR_variant,0.136,0.002,1KG_EAS_AF,P2RX