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
199771,10:102767481:T>A,NM_001195263.1:c.*743A>T,\N,17/17,\N,Unknown significance,\N,3_prime_UTR_variant,14.02,0.001,1KG_SAS_AF,PDZD7
199772,10:102767493:C>T,NM_001195263.1:c.*731G>A,\N,17/17,\N,Unknown significance,\N,3_prime_UTR_variant,15.47,\N,\N,PDZD7
199773,10:102767496:G>A,NM_001195263.1:c.*728C>T,\N,17/17,\N,Unknown significance,\N,3_prime_UTR_variant,14.3,0.0008,1KG_AFR_AF,PDZD7
199774,10:102767545:G>C,NM_001195263.1:c.*679C>G,\N,17/17,\N,Unknown significance,\N,3_prime_UTR_variant,14.63,0.0008,1KG_AFR_AF,PDZD7
199775,10:102767551:A>T,NM_001195263.1:c.*673T>A,\N,17/17,\N,Benign,\N,3_prime_UTR_variant,14.03,0.0076,1KG_AFR_AF,PDZD7
199776,10:102767566:TA>T,NM_001195263.1:c.*657del,\N,17/17,\N,Benign,\N,3_prime_UTR_variant,9.324,0.0076,1KG_AFR_AF,PDZD7
199777,10:102767574:A>AT,NM_001195263.1:c.*649dup,\N,17/17,\N,Benign,\N,3_prime_UTR_variant,0.045,0.0227,1KG_AFR_AF,PDZD7
199778,10:102767574:A>T,NM_001195263.1:c.*650T>A,\N,17/17,\N,Benign,\N,3_prime_UTR_variant,0.271,0.0476,1KG_EAS_AF,PDZD7
199779,10:102767596:T>C,NM_001195263.1:c.*628A>G,\N,17/17,\N,Benign,\N,3_prime_UTR_variant,2.975,0.0091,1KG_AFR_AF,PDZD7
199780,10:102767632:A>ACC,NM_001195263.1:c.*590_*591dup,\N,17/17,\N,Unknown significance,\N,3_prime_UTR_variant,10.32,\N,\N,PDZD7
199781,10:102767632:A>ACCC,NM_001195263.1:c.*589_*591dup,\N,17/17,\N,Unknown significance,\N,3_prime_UTR_variant,10.23,\N,\N,PDZD7
199782,10:102767632:AC>A,NM_001195263.1:c.*591del,\N,17/17,\N,Unknown significance,\N,3_prime_UTR_variant,11.23,\N,\N,PDZD7
199783,10:102767635:C>G,NM_001195263.1:c.*589G>C,\N,17/17,\N,Benign,\N,3_prime_UTR_variant,6.276,0.005,1KG_EAS_AF,PDZD7
199784,10:102767636:C>CG,NM_001195263.1:c.*587_*588insC,\N,17/17,\N,Unknown significance,\N,3_prime_UTR_variant,\N,\N,\N,PDZD7
199785,10:102767637:C>G,NM_001195263.1:c.*587G>C,\N,17/17,\N,Unknown significance,\N,3_prime_UTR_variant,5.652,0.0043,1KG_AMR_AF,PDZD7
199786,10:102767641:C>G,NM_001195263.1:c.*583G>C,\N,17/17,\N,Unknown significance,\N,3_prime_UTR_variant,2.739,0.0023,1KG_AFR_AF,PDZD7
199787,10:102767642:C>CA,NM_001195263.1:c.*581_*582insT,\N,17/17,\N,Unknown significance,\N,3_prime_UTR_variant,5.57,\N,\N,PDZD7
199788,10:102767642:C>CCCA,NM_001195263.1:c.*581_*582insTGG,\N,17/17,\N,Unknown significance,\N,3_prime_UTR_variant,5.249,\N,\N,PDZD7
199789,10:102767642:C>CCCCA,NM_001195263.1:c.*578_*581dup,\N,17/17,\N,Unknown significance,\N,3_prime_UTR_variant,5.086,\N,\N,PDZD7
199790,10:102767642:C>CCCCCA,NM_001195263.1:c.*581_*582insTGGGG,\N,17/17,\N,Unknown significance,\N,3_prime_UTR_variant,\N,\N,\N,PDZD7
199791,10:102767643:C>CCCA,NM_001195263.1:c.*578_*580dup,\N,17/17,\N,Unknown significance,\N,3_prime_UTR_variant,5.029,\N,\N,PDZD7
199792,10:102767644:C>CA,NM_001195263.1:c.*579_*580insT,\N,17/17,\N,Unknown significance,\N,3_prime_UTR_variant,\N,\N,\N,PDZD7
199793,10:102767645:C>A,NM_001195263.1:c.*579G>T,\N,17/17,\N,Unknown significance,\N,3_prime_UTR_variant,1.993,0.0014,1KG_AMR_AF,PDZD7
199794,10:102767667:T>C,NM_001195263.1:c.*557A>G,\N,17/17,\N,Unknown significance,\N,3_prime_UTR_variant,3.755,\N,\N,PDZD7
199795,10:102767743:T>C,NM_001195263.1:c.*481A>G,\N,17/17,\N,Unknown significance,\N,3_prime_UTR_variant,5.807,0.0029,1KG_AMR_AF,PDZD7
199796,10:102767753:C>T,NM_001195263.1:c.*471G>A,\N,17/17,\N,Unknown significance,\N,3_prime_UTR_variant,4.111,\N,\N,PDZD7
199797,10:102767762:ATC>A,NM_001195263.1:c.*460_*461del,\N,17/17,\N,Unknown significance,\N,3_prime_UTR_variant,\N,\N,\N,PDZD7
199798,10:102767792:C>G,NM_001195263.1:c.*432G>C,\N,17/17,\N,Unknown significance,\N,3_prime_UTR_variant,4.836,0.0029,1KG_AMR_AF,PDZD7
199799,10:102767792:CT>C,NM_001195263.1:c.*431del,\N,17/17,\N,Benign,\N,3_prime_UTR_variant,6.743,0.0976,1KG_AFR_AF,PDZD7
199800,10:102767800:C>T,NM_001195263.1:c.*424G>A,\N,17/17,\N,Unknown significance,\N,3_prime_UTR_variant,6.135,0.003,1KG_AFR_AF,PDZD7
199801,10:102767861:C>G,NM_001195263.1:c.*363G>C,\N,17/17,\N,Unknown significance,\N,3_prime_UTR_variant,6.974,\N,\N,PDZD7
199802,10:102767866:C>CT,NM_001195263.1:c.*357dup,\N,17/17,\N,Unknown significance,\N,3_prime_UTR_variant,\N,\N,\N,PDZD7
199803,10:102767883:T>A,NM_001195263.1:c.*341A>T,\N,17/17,\N,Unknown significance,\N,3_prime_UTR_variant,5.851,\N,\N,PDZD7
199804,10:102767915:G>A,NM_001195263.1:c.*309C>T,\N,17/17,\N,Unknown significance,\N,3_prime_UTR_variant,5.947,\N,\N,PDZD7
199805,10:102767922:A>C,NM_001195263.1:c.*302T>G,\N,17/17,\N,Unknown significance,\N,3_prime_UTR_variant,9.282,0.0014,1KG_AMR_AF,PDZD7
199806,10:102767922:A>G,NM_001195263.1:c.*302T>C,\N,17/17,\N,Unknown significance,\N,3_prime_UTR_variant,10.41,\N,\N,PDZD7
199807,10:102767940:G>A,NM_001195263.1:c.*284C>T,\N,17/17,\N,Unknown significance,\N,3_prime_UTR_variant,3.34,0.001,1KG_EAS_AF,PDZD7
199808,10:102767966:CT>C,NM_001195263.1:c.*257del,\N,17/17,\N,Benign,\N,3_prime_UTR_variant,3.746,0.0061,1KG_AFR_AF,PDZD7
199809,10:102767970:C>G,NM_001195263.1:c.*254G>C,\N,17/17,\N,Unknown significance,\N,3_prime_UTR_variant,4.479,0.001,1KG_EUR_AF,PDZD7
199810,10:102767994:G>A,NM_001195263.1:c.*230C>T,\N,17/17,\N,Unknown significance,\N,3_prime_UTR_variant,4.117,0.003,1KG_EAS_AF,PDZD7
199811,10:102768014:C>T,NM_001195263.1:c.*210G>A,\N,17/17,\N,Unknown significance,\N,3_prime_UTR_variant,17.82,0.002,1KG_EUR_AF,PDZD7
199812,10:102768019:C>T,NM_001195263.1:c.*205G>A,\N,17/17,\N,Unknown significance,\N,3_prime_UTR_variant,17.89,\N,\N,PDZD7
199813,10:102768021:C>G,NM_001195263.1:c.*203G>C,\N,17/17,\N,Unknown significance,\N,3_prime_UTR_variant,16.96,\N,\N,PDZD7
199814,10:102768040:C>T,NM_001195263.1:c.*184G>A,\N,17/17,\N,Unknown significance,\N,3_prime_UTR_variant,18.72,0.0023,1KG_AFR_AF,PDZD7
199815,10:102768061:A>G,NM_001195263.1:c.*163T>C,\N,17/17,\N,Unknown significance,\N,3_prime_UTR_variant,13.28,0.001,1KG_EAS_AF,PDZD7
199816,10:102768069:G>A,NM_001195263.1:c.*155C>T,\N,17/17,\N,Unknown significance,\N,3_prime_UTR_variant,13.2,0.0008,1KG_AFR_AF,PDZD7
199817,10:102768073:G>T,NM_001195263.1:c.*151C>A,\N,17/17,\N,Unknown significance,\N,3_prime_UTR_variant,9.934,\N,\N,PDZD7
199818,10:102768154:G>T,NM_001195263.1:c.*70C>A,\N,17/17,\N,Benign,\N,3_prime_UTR_variant,2.381,0.049,1KG_AMR_AF,PDZD7
199819,10:102768166:G>A,NM_001195263.1:c.*58C>T,\N,17/17,\N,Unknown significance,\N,3_prime_UTR_variant,4.547,0.0008,1KG_AFR_AF,PDZD7
199820,10:102768175:G>A,NM_001195263.1:c.*49C>T,\N,17/17,\N,Benign,\N,3_prime_UTR_variant,4.845,0.0076,1KG_AFR_AF,PDZD7
199821,10:102768180:C>T,NM_001195263.1:c.*44G>A,\N,17/17,\N,Benign,\N,3_prime_UTR_variant,4.972,0.0225225,EXAC_EAS_AF,PDZD7
199822,10:102768181:G>A,NM_001195263.1:c.*43C>T,\N,17/17,\N,Unknown significance,\N,3_prime_UTR_variant,3.747,0.003,1KG_EAS_AF,PDZD7
199823,10:102768216:G>C,NM_001195263.1:c.*8C>G,\N,17/17,\N,Unknown significance,\N,3_prime_UTR_variant,7.925,0.00047619,EXAC_NFE_AF,PDZD7
199824,10:102768223:G>C,NM_001195263.1:c.*1C>G,\N,17/17,\N,Unknown significance,\N,3_prime_UTR_variant,9.408,\N,\N,PDZD7
199825,10:102768234:C>T,NM_001195263.1:c.3092G>A,NP_001182192.1:p.Arg1031His,17/17,\N,Benign,\N,missense_variant,3.053,0.19347,EXAC_SAS_AF,PDZD7
199826,10:102768235:G>A,NM_001195263.1:c.3091C>T,NP_001182192.1:p.Arg1031Cys,17/17,\N,Unknown significance,\N,missense_variant,7.654,0.000498504,EXAC_SAS_AF,PDZD7
199827,10:102768237:G>C,NM_001195263.1:c.3089C>G,NP_001182192.1:p.Pro1030Arg,17/17,\N,Unknown significance,\N,missense_variant,4.923,0.000408163,EXAC_NFE_AF,PDZD7
199828,10:102768247:C>T,NM_001195263.1:c.3079G>A,NP_001182192.1:p.Ala1027Thr,17/17,\N,Unknown significance,\N,missense_variant,2.469,0.000339905,EXAC_SAS_AF,PDZD7
199829,10:102768248:G>A,NM_001195263.1:c.3078C>T,NP_001182192.1:p.Pro1026=,17/17,\N,Benign,\N,synonymous_variant,0.272,0.006,1KG_EAS_AF,PDZD7
199830,10:102768253:T>C,NM_001195263.1:c.3073A>G,NP_001182192.1:p.Lys1025Glu,17/17,\N,Unknown significance,\N,missense_variant,2.003,\N,\N,PDZD7
199831,10:102768266:C>T,NM_001195263.1:c.3060G>A,NP_001182192.1:p.Gln1020=,17/17,\N,Unknown significance,\N,synonymous_variant,10.44,0.000179791,EXAC_SAS_AF,PDZD7
199832,10:102768268:G>A,NM_001195263.1:c.3058C>T,NP_001182192.1:p.Gln1020Ter,17/17,\N,Unknown significance,\N,stop_gained,9.862,\N,\N,PDZD7
199833,10:102768277:G>C,NM_001195263.1:c.3049C>G,NP_001182192.1:p.Pro1017Ala,17/17,\N,Unknown significance,\N,missense_variant,8.273,0.00014497,EXAC_SAS_AF,PDZD7
199834,10:102768281:G>T,NM_001195263.1:c.3045C>A,NP_001182192.1:p.Pro1015=,17/17,\N,Unknown significance,\N,synonymous_variant,9.682,0.000140371,EXAC_SAS_AF,PDZD7
199835,10:102768285:G>T,NM_001195263.1:c.3041C>A,NP_001182192.1:p.Ala1014Asp,17/17,\N,Unknown significance,\N,missense_variant,8.059,\N,\N,PDZD7
199836,10:102768291:C>T,NM_001195263.1:c.3035G>A,NP_001182192.1:p.Ser1012Asn,17/17,\N,Unknown significance,\N,missense_variant,11.9,\N,\N,PDZD7
199837,10:102768327:G>A,NM_001195263.1:c.2999C>T,NP_001182192.1:p.Pro1000Leu,17/17,\N,Unknown significance,\N,missense_variant,6.46,0.000261506,EXAC_NFE_AF,PDZD7
199838,10:102768365:G>T,NM_001195263.1:c.2961C>A,NP_001182192.1:p.Ala987=,17/17,\N,Unknown significance,\N,synonymous_variant,1.066,0.0008,1KG_AFR_AF,PDZD7
199839,10:102768380:A>G,NM_001195263.1:c.2946T>C,NP_001182192.1:p.Ala982=,17/17,\N,Unknown significance,\N,synonymous_variant,5.283,\N,\N,PDZD7
199840,10:102768383:A>G,NM_001195263.1:c.2943T>C,NP_001182192.1:p.Asp981=,17/17,\N,Benign,\N,synonymous_variant,5.244,0.1,EXAC_FIN_AF,PDZD7
199841,10:102768394:G>T,NM_001195263.1:c.2932C>A,NP_001182192.1:p.Gln978Lys,17/17,\N,Benign,\N,missense_variant,5.913,0.0076,1KG_AFR_AF,PDZD7
199842,10:102768399:G>T,NM_001195263.1:c.2927C>A,NP_001182192.1:p.Ala976Asp,17/17,\N,Unknown significance,\N,missense_variant,3.241,0.000131234,EXAC_SAS_AF,PDZD7
199843,10:102768407:G>A,NM_001195263.1:c.2919C>T,NP_001182192.1:p.His973=,17/17,\N,Unknown significance,\N,synonymous_variant,4.145,0.000131234,EXAC_SAS_AF,PDZD7
199844,10:102768407:G>C,NM_001195263.1:c.2919C>G,NP_001182192.1:p.His973Gln,17/17,\N,Unknown significance,\N,missense_variant,0.932,0,EXAC_ALL_AF|EXAC_AFR_AF|EXAC_AMR_AF|EXAC_EAS_AF|EXAC_FIN_AF|EXAC_NFE_AF|EXAC_OTH_AF|EXAC_SAS_AF,PDZD7
199845,10:102768423:C>T,NM_001195263.1:c.2903G>A,NP_001182192.1:p.Gly968Asp,17/17,\N,Unknown significance,\N,missense_variant,5.569,\N,\N,PDZD7
199846,10:102768429:T>C,NM_001195263.1:c.2897A>G,NP_001182192.1:p.Asp966Gly,17/17,\N,Unknown significance,\N,missense_variant,4.762,0.00480769,EXAC_EAS_AF,PDZD7
199847,10:102768436:G>A,NM_001195263.1:c.2890C>T,NP_001182192.1:p.Leu964Phe,17/17,\N,Unknown significance,\N,missense_variant,12.83,0.000131234,EXAC_SAS_AF,PDZD7
199848,10:102768448:CAG>C,NM_001195263.1:c.2876_2877del,NP_001182192.1:p.Ser959Ter,17/17,\N,Unknown significance,\N,frameshift_variant,16.82,\N,\N,PDZD7
199849,10:102768451:AG>A,NM_001195263.1:c.2874del,NP_001182192.1:p.Ser959LeufsTer86,17/17,\N,Unknown significance,\N,frameshift_variant,\N,\N,\N,PDZD7
199850,10:102768463:G>A,NM_001195263.1:c.2863C>T,NP_001182192.1:p.Arg955Trp,17/17,\N,Unknown significance,\N,missense_variant,17.25,0.000787402,EXAC_SAS_AF,PDZD7
199851,10:102768498:A>G,NM_001195263.1:c.2828T>C,NP_001182192.1:p.Met943Thr,17/17,\N,Unknown significance,\N,missense_variant,18.4,\N,\N,PDZD7
199852,10:102768507:C>T,NM_001195263.1:c.2819G>A,NP_001182192.1:p.Arg940Gln,17/17,\N,Unknown significance,\N,missense_variant,18.76,0.00177936,EXAC_AFR_AF,PDZD7
199853,10:102768508:G>A,NM_001195263.1:c.2818C>T,NP_001182192.1:p.Arg940Trp,17/17,\N,Unknown significance,\N,missense_variant,18.94,0.000131372,EXAC_SAS_AF,PDZD7
199854,10:102768520:G>A,NM_001195263.1:c.2806C>T,NP_001182192.1:p.Arg936Ter,17/17,\N,Unknown significance,\N,stop_gained,18.75,\N,\N,PDZD7
199855,10:102768527:CCGA>C,NM_001195263.1:c.2796_2798del,NP_001182192.1:p.Arg933del,17/17,\N,Unknown significance,\N,inframe_deletion,17.76,\N,\N,PDZD7
199856,10:102768528:C>T,NM_001195263.1:c.2798G>A,NP_001182192.1:p.Arg933Gln,17/17,\N,Unknown significance,\N,missense_variant,19.07,0.0008,1KG_AFR_AF,PDZD7
199857,10:102768529:G>A,NM_001195263.1:c.2797C>T,NP_001182192.1:p.Arg933Trp,17/17,\N,Unknown significance,\N,missense_variant,17.58,0.001,1KG_EAS_AF,PDZD7
199858,10:102768554:G>A,NM_001195263.1:c.2772C>T,NP_001182192.1:p.His924=,17/17,\N,Unknown significance,\N,synonymous_variant,17.7,0.000682594,EXAC_NFE_AF,PDZD7
199859,10:102768575:C>G,NM_001195263.1:c.2751G>C,NP_001182192.1:p.Glu917Asp,17/17,\N,Unknown significance,\N,missense_variant,16.2,\N,\N,PDZD7
199860,10:102768579:C>G,NM_001195263.1:c.2747G>C,NP_001182192.1:p.Gly916Ala,17/17,\N,Unknown significance,\N,missense_variant,17.58,0.0008,1KG_AFR_AF,PDZD7
199861,10:102768599:G>A,NM_001195263.1:c.2727C>T,NP_001182192.1:p.Phe909=,17/17,\N,Unknown significance,\N,synonymous_variant,12.93,\N,\N,PDZD7
199862,10:102768616:G>T,NM_001195263.1:c.2719-9C>A,\N,\N,16/16,Benign,\N,intron_variant,6.931,0.005,EXAC_AFR_AF,PDZD7
199863,10:102768619:TGAGA>T,NM_001195263.1:c.2719-16_2719-13del,\N,\N,16/16,Unknown significance,\N,intron_variant,\N,\N,\N,PDZD7
199864,10:102768621:A>G,NM_001195263.1:c.2719-14T>C,\N,\N,16/16,Unknown significance,\N,intron_variant,2.91,0.00102249,EXAC_NFE_AF,PDZD7
199865,10:102768634:C>T,NM_001195263.1:c.2719-27G>A,\N,\N,16/16,Unknown significance,\N,intron_variant,6.698,0.0025641,EXAC_AFR_AF,PDZD7
199866,10:102768637:CCCT>C,NM_001195263.1:c.2719-33_2719-31del,\N,\N,16/16,Benign,\N,intron_variant,6.794,0.0109,1KG_EAS_AF,PDZD7
199867,10:102768674:A>G,NM_001195263.1:c.2719-67T>C,\N,\N,16/16,Unknown significance,\N,intron_variant,1.801,\N,\N,PDZD7
199868,10:102768704:G>A,NM_001195263.1:c.2719-97C>T,\N,\N,16/16,Unknown significance,\N,intron_variant,3.863,0.003,1KG_AFR_AF,PDZD7
199869,10:102768737:A>T,NM_001195263.1:c.2719-130T>A,\N,\N,16/16,Unknown significance,\N,intron_variant,16.2,\N,\N,PDZD7
199870,10:102768747:T>A,NM_001195263.1:c.2719-140A>T,\N,\N,16/16,Unknown significance,\N,intron_variant,19.31,\N,\N,PDZD7
199871,10:102768752:T>A,NM_001195263.1:c.2719-145A>T,\N,\N,16/16,Benign,\N,intron_variant,16.57,0.0133,1KG_SAS_AF,PDZD7
199872,10:102768759:A>C,NM_001195263.1:c.2719-152T>G,\N,\N,16/16,Benign,\N,intron_variant,2.129,0.0068,1KG_AFR_AF,PDZD7
199873,10:102768791:G>C,NM_001195263.1:c.2719-184C>G,\N,\N,16/16,Unknown significance,\N,intron_variant,14.63,\N,\N,PDZD7
199874,10:102768875:C>T,NM_001195263.1:c.2718+132G>A,\N,\N,16/16,Unknown significance,\N,intron_variant,8.556,0.0008,1KG_AFR_AF,PDZD7
199875,10:102768889:G>C,NM_001195263.1:c.2718+118C>G,\N,\N,16/16,Unknown significance,\N,intron_variant,5.45,\N,\N,PDZD7
199876,10:102768891:C>G,NM_001195263.1:c.2718+116G>C,\N,\N,16/16,Unknown significance,\N,intron_variant,8.313,0.003,1KG_AFR_AF,PDZD7
199877,10:102768906:G>A,NM_001195263.1:c.2718+101C>T,\N,\N,16/16,Unknown significance,\N,intron_variant,13.28,0.0023,1KG_AFR_AF,PDZD7
199878,10:102768957:C>T,NM_001195263.1:c.2718+50G>A,\N,\N,16/16,Benign,\N,intron_variant,7.847,0.00510204,EXAC_EAS_AF,PDZD7
199879,10:102768966:G>C,NM_001195263.1:c.2718+41C>G,\N,\N,16/16,Unknown significance,\N,intron_variant,0.681,0.0012012,EXAC_NFE_AF,PDZD7
199880,10:102768982:G>A,NM_001195263.1:c.2718+25C>T,\N,\N,16/16,Benign,\N,intron_variant,5.634,0.0058,1KG_AMR_AF,PDZD7
199881,10:102769031:G>A,NM_001195263.1:c.2694C>T,NP_001182192.1:p.Ala898=,16/17,\N,Unknown significance,\N,synonymous_variant,10.83,0.0014,1KG_AMR_AF,PDZD7
199882,10:102769033:C>T,NM_001195263.1:c.2692G>A,NP_001182192.1:p.Ala898Thr,16/17,\N,Unknown significance,\N,missense_variant,15.39,0.000131337,EXAC_SAS_AF,PDZD7
199883,10:102769034:C>T,NM_001195263.1:c.2691G>A,NP_001182192.1:p.Gly897=,16/17,\N,Unknown significance,\N,synonymous_variant,11.88,0.001,1KG_EAS_AF|1KG_SAS_AF,PDZD7
199884,10:102769045:A>G,NM_001195263.1:c.2680T>C,NP_001182192.1:p.Phe894Leu,16/17,\N,Unknown significance,\N,missense_variant,17.12,0.00178571,EXAC_AFR_AF,PDZD7
199885,10:102769047:ATCT>A,NM_001195263.1:c.2675_2677del,NP_001182192.1:p.Lys892del,16/17,\N,Unknown significance,\N,inframe_deletion,22.9,\N,\N,PDZD7
199886,10:102769056:A>G,NM_001195263.1:c.2669T>C,NP_001182192.1:p.Ile890Thr,16/17,\N,Unknown significance,\N,missense_variant,22.8,0.001,1KG_EUR_AF,PDZD7
199887,10:102769057:T>C,NM_001195263.1:c.2668A>G,NP_001182192.1:p.Ile890Val,16/17,\N,Unknown significance,\N,missense_variant,22.1,0.000131268,EXAC_SAS_AF,PDZD7
199888,10:102769073:C>T,NM_001195263.1:c.2652G>A,NP_001182192.1:p.Val884=,16/17,\N,Unknown significance,\N,synonymous_variant,21.9,\N,\N,PDZD7
199889,10:102769082:C>T,NM_001195263.1:c.2643G>A,NP_001182192.1:p.Glu881=,16/17,\N,Unknown significance,\N,synonymous_variant,22.6,\N,\N,PDZD7
199890,10:102769086:A>G,NM_001195263.1:c.2639T>C,NP_001182192.1:p.Ile880Thr,16/17,\N,Unknown significance,\N,missense_variant,22.9,\N,\N,PDZD7
199891,10:102769128:C>T,NM_001195263.1:c.2618-21G>A,\N,\N,15/16,Unknown significance,\N,intron_variant,1.424,0.001,1KG_EUR_AF,PDZD7
199892,10:102769129:G>A,NM_001195263.1:c.2618-22C>T,\N,\N,15/16,Unknown significance,\N,intron_variant,4.206,0.00357143,EXAC_AFR_AF,PDZD7
199893,10:102769207:A>G,NM_001195263.1:c.2618-100T>C,\N,\N,15/16,Unknown significance,\N,intron_variant,9.358,0.001,1KG_SAS_AF,PDZD7
199894,10:102769222:C>G,NM_001195263.1:c.2618-115G>C,\N,\N,15/16,Unknown significance,\N,intron_variant,2.937,\N,\N,PDZD7
199895,10:102769257:C>T,NM_001195263.1:c.2618-150G>A,\N,\N,15/16,Unknown significance,\N,intron_variant,1.072,0.0014,1KG_AMR_AF,PDZD7
199896,10:102769305:C>T,NM_001195263.1:c.2618-198G>A,\N,\N,15/16,Unknown significance,\N,intron_variant,0.487,\N,\N,PDZD7
199897,10:102769327:TTTTA>T,NM_001195263.1:c.2618-224_2618-221del,\N,\N,15/16,Benign,\N,intron_variant,8.108,0.0083,1KG_AFR_AF,PDZD7
199898,10:102769339:A>AT,NM_001195263.1:c.2618-233dup,\N,\N,15/16,Unknown significance,\N,intron_variant,\N,\N,\N,PDZD7
199899,10:102769345:TGAGACAGAG>T,NM_001195263.1:c.2618-247_2618-239del,\N,\N,15/16,Unknown significance,\N,intron_variant,\N,\N,\N,PDZD7
199900,10:102769348:G>A,NM_001195263.1:c.2618-241C>T,\N,\N,15/16,Unknown significance,\N,intron_variant,1.257,0.001,1KG_SAS_AF,PDZD7
199901,10:102769354:GTCTT>G,NM_001195263.1:c.2618-251_2618-248del,\N,\N,15/16,Unknown significance,\N,intron_variant,2.498,\N,\N,PDZD7
199902,10:102769356:C>T,NM_001195263.1:c.2618-249G>A,\N,\N,15/16,Unknown significance,\N,intron_variant,0.581,\N,\N,PDZD7
199903,10:102769356:CT>C,NM_001195263.1:c.2618-250del,\N,\N,15/16,Unknown significance,\N,intron_variant,\N,\N,\N,PDZD7
199904,10:102769356:CTTT>C,NM_001195263.1:c.2618-252_2618-250del,\N,\N,15/16,Unknown significance,\N,intron_variant,3.811,\N,\N,PDZD7
199905,10:102769359:T>C,NM_001195263.1:c.2618-252A>G,\N,\N,15/16,Unknown significance,\N,intron_variant,0.172,\N,\N,PDZD7
199906,10:102769384:G>A,NM_001195263.1:c.2618-277C>T,\N,\N,15/16,Unknown significance,\N,intron_variant,1.68,\N,\N,PDZD7
199907,10:102769397:T>G,NM_001195263.1:c.2618-290A>C,\N,\N,15/16,Benign,\N,intron_variant,0.227,0.0288,1KG_EUR_AF,PDZD7
199908,10:102769427:C>G,NM_001195263.1:c.2618-320G>C,\N,\N,15/16,Unknown significance,\N,intron_variant,0.049,\N,\N,PDZD7
199909,10:102769433:C>T,NM_001195263.1:c.2618-326G>A,\N,\N,15/16,Benign,\N,intron_variant,1.555,0.0159,1KG_EAS_AF,PDZD7
199910,10:102769457:C>T,NM_001195263.1:c.2618-350G>A,\N,\N,15/16,Unknown significance,\N,intron_variant,1.669,0.0014,1KG_AMR_AF,PDZD7
199911,10:102769494:A>G,NM_001195263.1:c.2618-387T>C,\N,\N,15/16,Unknown significance,\N,intron_variant,4.617,\N,\N,PDZD7
199912,10:102769509:C>T,NM_001195263.1:c.2618-402G>A,\N,\N,15/16,Unknown significance,\N,intron_variant,5.392,\N,\N,PDZD7
199913,10:102769548:G>A,NM_001195263.1:c.2618-441C>T,\N,\N,15/16,Unknown significance,\N,intron_variant,2.102,\N,\N,PDZD7
199914,10:102769549:A>G,NM_001195263.1:c.2618-442T>C,\N,\N,15/16,Unknown significance,\N,intron_variant,1.426,0.003,1KG_AFR_AF,PDZD7
199915,10:102769628:T>G,NM_001195263.1:c.2617+401A>C,\N,\N,15/16,Unknown significance,\N,intron_variant,2.433,\N,\N,PDZD7
199916,10:102769634:G>C,NM_001195263.1:c.2617+395C>G,\N,\N,15/16,Unknown significance,\N,intron_variant,0.377,\N,\N,PDZD7
199917,10:102769661:G>T,NM_001195263.1:c.2617+368C>A,\N,\N,15/16,Benign,\N,intron_variant,0.844,0.4652,1KG_EUR_AF,PDZD7
199918,10:102769666:G>A,NM_001195263.1:c.2617+363C>T,\N,\N,15/16,Unknown significance,\N,intron_variant,2.205,\N,\N,PDZD7
199919,10:102769674:C>G,NM_001195263.1:c.2617+355G>C,\N,\N,15/16,Unknown significance,\N,intron_variant,3.832,0.003,1KG_AFR_AF,PDZD7
199920,10:102769707:G>A,NM_001195263.1:c.2617+322C>T,\N,\N,15/16,Unknown significance,\N,intron_variant,0.174,\N,\N,PDZD7
199921,10:102769710:A>G,NM_001195263.1:c.2617+319T>C,\N,\N,15/16,Benign,\N,intron_variant,4.032,0.508,1KG_EUR_AF,PDZD7
199922,10:102769726:C>T,NM_001195263.1:c.2617+303G>A,\N,\N,15/16,Unknown significance,\N,intron_variant,0.188,0.002,1KG_SAS_AF,PDZD7
199923,10:102769727:G>T,NM_001195263.1:c.2617+302C>A,\N,\N,15/16,Unknown significance,\N,intron_variant,0.529,\N,\N,PDZD7
199924,10:102769736:C>T,NM_001195263.1:c.2617+293G>A,\N,\N,15/16,Unknown significance,\N,intron_variant,0.017,0.002,1KG_SAS_AF,PDZD7
199925,10:102769737:G>A,NM_001195263.1:c.2617+292C>T,\N,\N,15/16,Unknown significance,\N,intron_variant,1.58,0.0023,1KG_AFR_AF,PDZD7
199926,10:102769763:G>A,NM_001195263.1:c.2617+266C>T,\N,\N,15/16,Unknown significance,\N,intron_variant,2.705,\N,\N,PDZD7
199927,10:102769794:C>T,NM_001195263.1:c.2617+235G>A,\N,\N,15/16,Unknown significance,\N,intron_variant,0.876,\N,\N,PDZD7
199928,10:102769801:C>A,NM_001195263.1:c.2617+228G>T,\N,\N,15/16,Unknown significance,\N,intron_variant,3.616,0.0008,1KG_AFR_AF,PDZD7
199929,10:102769811:G>A,NM_001195263.1:c.2617+218C>T,\N,\N,15/16,Unknown significance,\N,intron_variant,0.376,0.0008,1KG_AFR_AF,PDZD7
199930,10:102769841:G>A,NM_001195263.1:c.2617+188C>T,\N,\N,15/16,Unknown significance,\N,intron_variant,0.708,\N,\N,PDZD7
199931,10:102769874:C>T,NM_001195263.1:c.2617+155G>A,\N,\N,15/16,Unknown significance,\N,intron_variant,3.448,\N,\N,PDZD7
199932,10:102769876:T>C,NM_001195263.1:c.2617+153A>G,\N,\N,15/16,Unknown significance,\N,intron_variant,5.645,0.0014,1KG_AMR_AF,PDZD7
199933,10:102769902:TC>T,NM_001195263.1:c.2617+126del,\N,\N,15/16,Unknown significance,\N,intron_variant,1.6,\N,\N,PDZD7
199934,10:102769920:G>A,NM_001195263.1:c.2617+109C>T,\N,\N,15/16,Unknown significance,\N,intron_variant,3.643,0.001,1KG_EUR_AF,PDZD7
199935,10:102769928:A>G,NM_001195263.1:c.2617+101T>C,\N,\N,15/16,Unknown significance,\N,intron_variant,1.654,0.0014,1KG_AMR_AF,PDZD7
199936,10:102769930:G>A,NM_001195263.1:c.2617+99C>T,\N,\N,15/16,Unknown significance,\N,intron_variant,2.97,0.0014,1KG_AMR_AF,PDZD7
199937,10:102769933:T>A,NM_001195263.1:c.2617+96A>T,\N,\N,15/16,Unknown significance,\N,intron_variant,3.371,\N,\N,PDZD7
199938,10:102769949:G>A,NM_001195263.1:c.2617+80C>T,\N,\N,15/16,Unknown significance,\N,intron_variant,3.396,0.0008,1KG_AFR_AF,PDZD7
199939,10:102769950:C>G,NM_001195263.1:c.2617+79G>C,\N,\N,15/16,Unknown significance,\N,intron_variant,0.804,0.001,1KG_SAS_AF,PDZD7
199940,10:102769952:C>T,NM_001195263.1:c.2617+77G>A,\N,\N,15/16,Unknown significance,\N,intron_variant,3.085,\N,\N,PDZD7
199941,10:102769981:C>T,NM_001195263.1:c.2617+48G>A,\N,\N,15/16,Unknown significance,\N,intron_variant,8.529,\N,\N,PDZD7
199942,10:102769995:G>A,NM_001195263.1:c.2617+34C>T,\N,\N,15/16,Unknown significance,\N,intron_variant,1.815,0.001,1KG_EAS_AF,PDZD7
199943,10:102770004:C>T,NM_001195263.1:c.2617+25G>A,\N,\N,15/16,Benign,\N,intron_variant,3.731,0.0204,1KG_AFR_AF,PDZD7
199944,10:102770005:G>A,NM_001195263.1:c.2617+24C>T,\N,\N,15/16,Unknown significance,\N,intron_variant,1.158,0.001,1KG_EAS_AF,PDZD7
199945,10:102770035:A>T,NM_001195263.1:c.2611T>A,NP_001182192.1:p.Ser871Thr,15/17,\N,Benign,\N,missense_variant,21.3,0.00561798,EXAC_AMR_AF,PDZD7
199946,10:102770048:G>A,NM_001195263.1:c.2598C>T,NP_001182192.1:p.Ser866=,15/17,\N,Unknown significance,\N,synonymous_variant,20.2,\N,\N,PDZD7
199947,10:102770072:G>A,NM_001195263.1:c.2574C>T,NP_001182192.1:p.Gly858=,15/17,\N,Unknown significance,\N,synonymous_variant,14.28,0.000399574,EXAC_SAS_AF,PDZD7
199948,10:102770073:C>T,NM_001195263.1:c.2573G>A,NP_001182192.1:p.Gly858Asp,15/17,\N,Unknown significance,\N,missense_variant,17.73,\N,\N,PDZD7
199949,10:102770074:C>T,NM_001195263.1:c.2572G>A,NP_001182192.1:p.Gly858Ser,15/17,\N,Unknown significance,\N,missense_variant,17.18,0.001,1KG_SAS_AF,PDZD7
199950,10:102770082:T>G,NM_001195263.1:c.2564A>C,NP_001182192.1:p.Asn855Thr,15/17,\N,Benign,\N,missense_variant,11.38,0.878505,EXAC_AMR_AF,PDZD7
199951,10:102770088:A>G,NM_001195263.1:c.2558T>C,NP_001182192.1:p.Met853Thr,15/17,\N,Unknown significance,\N,missense_variant,13.76,\N,\N,PDZD7
199952,10:102770108:C>G,NM_001195263.1:c.2538G>C,NP_001182192.1:p.Gly846=,15/17,\N,Benign,\N,synonymous_variant,3.895,0.00519031,EXAC_AFR_AF,PDZD7
199953,10:102770109:C>T,NM_001195263.1:c.2537G>A,NP_001182192.1:p.Gly846Glu,15/17,\N,Unknown significance,\N,missense_variant,1.931,\N,\N,PDZD7
199954,10:102770174:T>A,NM_001195263.1:c.2472A>T,NP_001182192.1:p.Arg824=,15/17,\N,Unknown significance,\N,synonymous_variant,8.814,0.000131234,EXAC_SAS_AF,PDZD7
199955,10:102770188:G>T,NM_001195263.1:c.2458C>A,NP_001182192.1:p.Pro820Thr,15/17,\N,Unknown significance,\N,missense_variant,11.7,0.000131268,EXAC_SAS_AF,PDZD7
199956,10:102770202:G>A,NM_001195263.1:c.2444C>T,NP_001182192.1:p.Pro815Leu,15/17,\N,Unknown significance,\N,missense_variant,17.48,0.000131406,EXAC_SAS_AF,PDZD7
199957,10:102770208:T>G,NM_001195263.1:c.2438A>C,NP_001182192.1:p.His813Pro,15/17,\N,Unknown significance,\N,missense_variant,16.23,\N,\N,PDZD7
199958,10:102770235:G>A,NM_001195263.1:c.2411C>T,NP_001182192.1:p.Ala804Val,15/17,\N,Benign,\N,missense_variant,1.572,0.0083,1KG_AFR_AF,PDZD7
199959,10:102770236:C>T,NM_001195263.1:c.2410G>A,NP_001182192.1:p.Ala804Thr,15/17,\N,Unknown significance,\N,missense_variant,2.567,0.000132275,EXAC_SAS_AF,PDZD7
199960,10:102770239:G>A,NM_001195263.1:c.2407C>T,NP_001182192.1:p.Pro803Ser,15/17,\N,Unknown significance,\N,missense_variant,3.82,\N,\N,PDZD7
199961,10:102770249:C>A,NM_001195263.1:c.2397G>T,NP_001182192.1:p.Pro799=,15/17,\N,Unknown significance,\N,synonymous_variant,0.403,0.000132908,EXAC_SAS_AF,PDZD7
199962,10:102770250:G>A,NM_001195263.1:c.2396C>T,NP_001182192.1:p.Pro799Leu,15/17,\N,Unknown significance,\N,missense_variant,10.43,0.000132908,EXAC_SAS_AF,PDZD7
199963,10:102770274:G>A,NM_001195263.1:c.2372C>T,NP_001182192.1:p.Ser791Phe,15/17,\N,Benign,\N,missense_variant,12.88,0.00537634,EXAC_AFR_AF,PDZD7
199964,10:102770278:T>C,NM_001195263.1:c.2368A>G,NP_001182192.1:p.Lys790Glu,15/17,\N,Benign,\N,missense_variant,12.36,0.1982,1KG_AFR_AF,PDZD7
199965,10:102770288:C>CCGGCTGCTGCGG,NM_001195263.1:c.2346_2357dup,NP_001182192.1:p.Arg783_Arg786dup,15/17,\N,Unknown significance,\N,inframe_insertion,8.48,\N,\N,PDZD7
199966,10:102770289:C>T,NM_001195263.1:c.2357G>A,NP_001182192.1:p.Arg786Gln,15/17,\N,Likely benign,\N,missense_variant,3.925,0.0023,1KG_AFR_AF,PDZD7
199967,10:102770292:C>CGCTGCG,NM_001195263.1:c.2353_2354insCGCAGC,NP_001182192.1:p.Ser785delinsThrGlnArg,15/17,\N,Benign,\N,protein_altering_variant,8.515,\N,\N,PDZD7
199968,10:102770293:T>TGCTGCG,NM_001195263.1:c.2347_2352dup,NP_001182192.1:p.Arg783_Ser784dup,15/17,\N,Benign,\N,inframe_insertion,11.9,0.5,EXAC_FIN_AF,PDZD7
199969,10:102770293:T>TGCG,NM_001195263.1:c.2352_2353insCGC,NP_001182192.1:p.Ser784_Ser785insArg,15/17,\N,Unknown significance,\N,inframe_insertion,\N,\N,\N,PDZD7
199970,10:102770293:T>TGCTGCGGCTGCG,NM_001195263.1:c.2341_2352dup,NP_001182192.1:p.Arg781_Ser784dup,15/17,\N,Unknown significance,\N,inframe_insertion,\N,0.000156446,EXAC_SAS_AF,PDZD7
199971,10:102770297:GCGGCTGCGGCTGCGGCTA>G,NM_001195263.1:c.2331_2348del,NP_001182192.1:p.Arg779_Ser784del,15/17,\N,Likely benign,\N,inframe_deletion,\N,\N,\N,PDZD7
199972,10:102770303:GCGGCTGCGGCTACGGCTGCGGCTA>G,NM_001195263.1:c.2319_2342del,NP_001182192.1:p.Arg777_Ser784del,15/17,\N,Unknown significance,\N,inframe_deletion,19.58,\N,\N,PDZD7
199973,10:102770309:GCGGCTACGGCTGCGGCTA>G,NM_001195263.1:c.2319_2336del,NP_001182192.1:p.Arg779_Ser784del,15/17,\N,Likely benign,\N,inframe_deletion,20.3,\N,\N,PDZD7
199974,10:102770309:GCGGCTA>G,NM_001195263.1:c.2331_2336del,NP_001182192.1:p.Arg783_Ser784del,15/17,\N,Unknown significance,\N,inframe_deletion,\N,\N,\N,PDZD7
199975,10:102770310:C>T,NM_001195263.1:c.2336G>A,NP_001182192.1:p.Arg779His,15/17,\N,Unknown significance,\N,missense_variant,14.56,0.001,1KG_EAS_AF,PDZD7
199976,10:102770313:C>CTGCGGA,NM_001195263.1:c.2332_2333insTCCGCA,NP_001182192.1:p.Arg777_Ser778insIleArg,15/17,\N,Unknown significance,\N,inframe_insertion,16.12,\N,\N,PDZD7
199977,10:102770314:TAC>T,NM_001195263.1:c.2330_2331del,NP_001182192.1:p.Arg777GlnfsTer17,15/17,\N,Unknown significance,\N,frameshift_variant,19.86,\N,\N,PDZD7
199978,10:102770315:A>G,NM_001195263.1:c.2331T>C,NP_001182192.1:p.Arg777=,15/17,\N,Unknown significance,\N,synonymous_variant,14.78,0.000676819,EXAC_SAS_AF,PDZD7
199979,10:102770317:G>A,NM_001195263.1:c.2329C>T,NP_001182192.1:p.Arg777Cys,15/17,\N,Unknown significance,\N,missense_variant,19.64,0.004,1KG_EAS_AF,PDZD7
199980,10:102770317:GGCTGCGGCTA>G,NM_001195263.1:c.2319_2328del,NP_001182192.1:p.Ser774ValfsTer31,15/17,\N,Unknown significance,\N,frameshift_variant,20.8,\N,\N,PDZD7
199981,10:102770322:C>T,NM_001195263.1:c.2324G>A,NP_001182192.1:p.Arg775His,15/17,\N,Unknown significance,\N,missense_variant,18.8,0.000175254,EXAC_SAS_AF,PDZD7
199982,10:102770327:A>G,NM_001195263.1:c.2319T>C,NP_001182192.1:p.Arg773=,15/17,\N,Benign,\N,synonymous_variant,15.78,0.875,EXAC_AMR_AF,PDZD7
199983,10:102770327:A>ACGGCTGCGGCTG,NM_001195263.1:c.2318_2319insCAGCCGCAGCCG,NP_001182192.1:p.Arg781_Ser784dup,15/17,\N,Unknown significance,\N,inframe_insertion,12.4,0,EXAC_ALL_AF|EXAC_AFR_AF|EXAC_AMR_AF|EXAC_EAS_AF|EXAC_FIN_AF|EXAC_NFE_AF|EXAC_OTH_AF|EXAC_SAS_AF,PDZD7
199984,10:102770328:C>T,NM_001195263.1:c.2318G>A,NP_001182192.1:p.Arg773His,15/17,\N,Unknown significance,\N,missense_variant,13.95,0.000791975,EXAC_SAS_AF,PDZD7
199985,10:102770334:T>C,NM_001195263.1:c.2312A>G,NP_001182192.1:p.Gln771Arg,15/17,\N,Unknown significance,\N,missense_variant,11.62,0.000289519,EXAC_SAS_AF,PDZD7
199986,10:102770343:C>G,NM_001195263.1:c.2303G>C,NP_001182192.1:p.Gly768Ala,15/17,\N,Unknown significance,\N,missense_variant,10.38,\N,\N,PDZD7
199987,10:102770347:G>A,NM_001195263.1:c.2299C>T,NP_001182192.1:p.Arg767Trp,15/17,\N,Unknown significance,\N,missense_variant,10.7,0.00378267,EXAC_SAS_AF,PDZD7
199988,10:102770349:A>G,NM_001195263.1:c.2297T>C,NP_001182192.1:p.Ile766Thr,15/17,\N,Unknown significance,\N,missense_variant,8.861,0.00035461,EXAC_SAS_AF,PDZD7
199989,10:102770371:C>G,NM_001195263.1:c.2275G>C,NP_001182192.1:p.Glu759Gln,15/17,\N,Unknown significance,\N,missense_variant,6.079,0.000789889,EXAC_NFE_AF,PDZD7
199990,10:102770374:G>C,NM_001195263.1:c.2272C>G,NP_001182192.1:p.Arg758Gly,15/17,\N,Unknown significance,\N,missense_variant,0.164,0.000471698,EXAC_SAS_AF,PDZD7
199991,10:102770393:C>T,NM_001195263.1:c.2253G>A,NP_001182192.1:p.Leu751=,15/17,\N,Benign,\N,synonymous_variant,21.1,0.00806452,EXAC_AFR_AF,PDZD7
199992,10:102770396:C>A,NM_001195263.1:c.2250G>T,NP_001182192.1:p.Trp750Cys,15/17,\N,Unknown significance,\N,missense_variant,21.2,0.0017301,EXAC_NFE_AF,PDZD7
199993,10:102770403:G>A,NM_001195263.1:c.2243C>T,NP_001182192.1:p.Pro748Leu,15/17,\N,Unknown significance,\N,missense_variant,15.31,0.001,1KG_SAS_AF,PDZD7
199994,10:102770409:A>T,NM_001195263.1:c.2237T>A,NP_001182192.1:p.Leu746Gln,15/17,\N,Unknown significance,\N,missense_variant,0.079,0.000375375,EXAC_SAS_AF,PDZD7
199995,10:102770415:C>T,NM_001195263.1:c.2231G>A,NP_001182192.1:p.Arg744Gln,15/17,\N,Benign,\N,missense_variant,8.04,0.037127,EXAC_SAS_AF,PDZD7
199996,10:102770416:G>T,NM_001195263.1:c.2230C>A,NP_001182192.1:p.Arg744=,15/17,\N,Benign,\N,synonymous_variant,1.033,0.00825921,EXAC_SAS_AF,PDZD7
199997,10:102770422:C>T,NM_001195263.1:c.2224G>A,NP_001182192.1:p.Ala742Thr,15/17,\N,Unknown significance,\N,missense_variant,9.633,0.004,1KG_EAS_AF,PDZD7
199998,10:102770442:GGGGGTGTGCA>G,NM_001195263.1:c.2194_2203del,NP_001182192.1:p.Cys732LeufsTer18,15/17,\N,Pathogenic,Usher syndrome,frameshift_variant,18.33,\N,\N,PDZD7
199999,10:102770461:G>T,NM_001195263.1:c.2185C>A,NP_001182192.1:p.Arg729=,15/17,\N,Unknown significance,\N,synonymous_variant,1.288,0.000141483,EXAC_SAS_AF,PDZD7
200000,10:102770466:G>T,NM_001195263.1:c.2180C>A,NP_001182192.1:p.Pro727His,15/17,\N,Unknown significance,\N,missense_variant,6.545,0.001,1KG_SAS_AF,PDZD7
200001,10:102770474:G>A,NM_001195263.1:c.2172C>T,NP_001182192.1:p.Ala724=,15/17,\N,Unknown significance,\N,synonymous_variant,19.41,0.001,1KG_SAS_AF,PDZD7
200002,10:102770488:C>T,NM_001195263.1:c.2158G>A,NP_001182192.1:p.Val720Met,15/17,\N,Benign,\N,missense_variant,22.1,0.00505051,EXAC_AFR_AF,PDZD7
200003,10:102770489:G>A,NM_001195263.1:c.2157C>T,NP_001182192.1:p.Asp719=,15/17,\N,Benign,\N,synonymous_variant,19.01,0.0552,1KG_AFR_AF,PDZD7
200004,10:102770502:G>A,NM_001195263.1:c.2144C>T,NP_001182192.1:p.Pro715Leu,15/17,\N,Benign,\N,missense_variant,19.36,0.0416667,EXAC_FIN_AF,PDZD7
200005,10:102770514:T>C,NM_001195263.1:c.2132A>G,NP_001182192.1:p.His711Arg,15/17,\N,Benign,\N,missense_variant,15.02,0.125,EXAC_FIN_AF,PDZD7
200006,10:102770523:C>T,NM_001195263.1:c.2123G>A,NP_001182192.1:p.Arg708His,15/17,\N,Unknown significance,\N,missense_variant,12.82,\N,\N,PDZD7
200007,10:102770538:CT>C,NM_001195263.1:c.2107del,NP_001182192.1:p.Ser703ValfsTer20,15/17,\N,Unknown significance,\N,frameshift_variant,8.595,\N,\N,PDZD7
200008,10:102770545:A>G,NM_001195263.1:c.2101T>C,NP_001182192.1:p.Ser701Pro,15/17,\N,Unknown significance,\N,missense_variant,10.41,\N,\N,PDZD7
200009,10:102770556:GC>G,NM_001195263.1:c.2089del,NP_001182192.1:p.Ala697ProfsTer26,15/17,\N,Pathogenic,DFNB57,frameshift_variant,\N,\N,\N,PDZD7
200010,10:102770569:C>G,NM_001195263.1:c.2077G>C,NP_001182192.1:p.Glu693Gln,15/17,\N,Unknown significance,\N,missense_variant,11.74,0.002,1KG_EAS_AF,PDZD7
200011,10:102770578:C>T,NM_001195263.1:c.2068G>A,NP_001182192.1:p.Glu690Lys,15/17,\N,Unknown significance,\N,missense_variant,10.8,0.000133227,EXAC_SAS_AF,PDZD7
200012,10:102770597:C>T,NM_001195263.1:c.2049G>A,NP_001182192.1:p.Pro683=,15/17,\N,Benign,\N,synonymous_variant,0.061,0.1551,1KG_AFR_AF,PDZD7
200013,10:102770634:C>T,NM_001195263.1:c.2012G>A,NP_001182192.1:p.Arg671His,15/17,\N,Unknown significance,\N,missense_variant,22.6,0.000266454,EXAC_SAS_AF,PDZD7
200014,10:102770664:C>T,NM_001195263.1:c.2006-24G>A,\N,\N,14/16,Unknown significance,\N,intron_variant,5.125,0.000133227,EXAC_SAS_AF,PDZD7
200015,10:102770665:T>G,NM_001195263.1:c.2006-25A>C,\N,\N,14/16,Unknown significance,\N,intron_variant,7.453,0.000137325,EXAC_SAS_AF,PDZD7
200016,10:102770668:C>G,NM_001195263.1:c.2006-28G>C,\N,\N,14/16,Unknown significance,\N,intron_variant,5.169,\N,\N,PDZD7
200017,10:102770677:C>CCCTCCCAGACTGGACCA,NM_001195263.1:c.2006-38_2006-37insTGGTCCAGTCTGGGAGG,\N,\N,14/16,Benign,\N,intron_variant,7.249,0.2368,1KG_AFR_AF,PDZD7
200018,10:102770680:T>A,NM_001195263.1:c.2006-40A>T,\N,\N,14/16,Unknown significance,\N,intron_variant,9.099,0.000133262,EXAC_SAS_AF,PDZD7
200019,10:102770681:CT>C,NM_001195263.1:c.2006-42del,\N,\N,14/16,Unknown significance,\N,intron_variant,\N,\N,\N,PDZD7
200020,10:102770719:T>C,NM_001195263.1:c.2006-79A>G,\N,\N,14/16,Unknown significance,\N,intron_variant,0.217,0.002,1KG_EUR_AF|1KG_SAS_AF,PDZD7
200021,10:102770726:G>A,NM_001195263.1:c.2006-86C>T,\N,\N,14/16,Unknown significance,\N,intron_variant,0.336,0.0023,1KG_AFR_AF,PDZD7
200022,10:102770734:C>G,NM_001195263.1:c.2006-94G>C,\N,\N,14/16,Unknown significance,\N,intron_variant,1.703,0.001,1KG_EAS_AF,PDZD7
200023,10:102770736:A>C,NM_001195263.1:c.2006-96T>G,\N,\N,14/16,Unknown significance,\N,intron_variant,1.017,\N,\N,PDZD7
200024,10:102770748:C>A,NM_001195263.1:c.2006-108G>T,\N,\N,14/16,Unknown significance,\N,intron_variant,3.672,\N,\N,PDZD7
200025,10:102770761:C>T,NM_001195263.1:c.2006-121G>A,\N,\N,14/16,Unknown significance,\N,intron_variant,1.873,\N,\N,PDZD7
200026,10:102770770:C>T,NM_001195263.1:c.2006-130G>A,\N,\N,14/16,Unknown significance,\N,intron_variant,4.03,\N,\N,PDZD7
200027,10:102770774:G>A,NM_001195263.1:c.2006-134C>T,\N,\N,14/16,Unknown significance,\N,intron_variant,0.523,0.0014,1KG_AMR_AF,PDZD7
200028,10:102770789:C>T,NM_001195263.1:c.2006-149G>A,\N,\N,14/16,Unknown significance,\N,intron_variant,1.924,0.002,1KG_EUR_AF,PDZD7
200029,10:102770806:G>GCTTATTTATTTATT,NM_001195263.1:c.2006-180_2006-167dup,\N,\N,14/16,Benign,\N,intron_variant,\N,0.0492,1KG_AFR_AF,PDZD7
200030,10:102770807:C>CTTAT,NM_001195263.1:c.2006-171_2006-168dup,\N,\N,14/16,Unknown significance,\N,intron_variant,1.264,\N,\N,PDZD7
200031,10:102770807:C>CTTATTTATTTATTT,NM_001195263.1:c.2006-181_2006-168dup,\N,\N,14/16,Benign,\N,intron_variant,0.564,0.8698,1KG_EUR_AF,PDZD7
200032,10:102770811:T>TTTTA,NM_001195263.1:c.2006-172_2006-171insTAAA,\N,\N,14/16,Unknown significance,\N,intron_variant,\N,\N,\N,PDZD7
200033,10:102770817:T>C,NM_001195263.1:c.2006-177A>G,\N,\N,14/16,Benign,\N,intron_variant,0.813,0.0174,1KG_AFR_AF,PDZD7
200034,10:102770817:T>TATTC,NM_001195263.1:c.2006-178_2006-177insGAAT,\N,\N,14/16,Unknown significance,\N,intron_variant,0.342,\N,\N,PDZD7
200035,10:102770817:T>TATTTA,NM_001195263.1:c.2006-178_2006-177insTAAAT,\N,\N,14/16,Unknown significance,\N,intron_variant,\N,\N,\N,PDZD7
200036,10:102770838:C>T,NM_001195263.1:c.2006-198G>A,\N,\N,14/16,Benign,\N,intron_variant,2.389,0.006,1KG_EAS_AF,PDZD7
200037,10:102770868:G>T,NM_001195263.1:c.2006-228C>A,\N,\N,14/16,Benign,\N,intron_variant,1.095,0.0098,1KG_AFR_AF,PDZD7
200038,10:102770885:C>A,NM_001195263.1:c.2006-245G>T,\N,\N,14/16,Unknown significance,\N,intron_variant,5.896,0.0015,1KG_AFR_AF,PDZD7
200039,10:102770898:A>G,NM_001195263.1:c.2006-258T>C,\N,\N,14/16,Unknown significance,\N,intron_variant,2.456,\N,\N,PDZD7
200040,10:102770900:C>A,NM_001195263.1:c.2006-260G>T,\N,\N,14/16,Unknown significance,\N,intron_variant,0.786,\N,\N,PDZD7
200041,10:102770900:C>T,NM_001195263.1:c.2006-260G>A,\N,\N,14/16,Unknown significance,\N,intron_variant,0.496,0.0038,1KG_AFR_AF,PDZD7
200042,10:102770924:G>A,NM_001195263.1:c.2006-284C>T,\N,\N,14/16,Benign,\N,intron_variant,2.464,0.0187,1KG_AMR_AF,PDZD7
200043,10:102770928:AGCTGGGATTACAGGCGT>A,NM_001195263.1:c.2006-305_2006-289del,\N,\N,14/16,Unknown significance,\N,intron_variant,\N,\N,\N,PDZD7
200044,10:102770933:G>A,NM_001195263.1:c.2006-293C>T,\N,\N,14/16,Unknown significance,\N,intron_variant,5.378,\N,\N,PDZD7
200045,10:102770953:A>C,NM_001195263.1:c.2006-313T>G,\N,\N,14/16,Benign,\N,intron_variant,0.255,0.8738,1KG_EUR_AF,PDZD7
200046,10:102771035:C>T,NM_001195263.1:c.2006-395G>A,\N,\N,14/16,Unknown significance,\N,intron_variant,3.986,0.0023,1KG_AFR_AF,PDZD7
200047,10:102771045:G>A,NM_001195263.1:c.2005+402C>T,\N,\N,14/16,Unknown significance,\N,intron_variant,4.426,0.0008,1KG_AFR_AF,PDZD7
200048,10:102771068:G>C,NM_001195263.1:c.2005+379C>G,\N,\N,14/16,Unknown significance,\N,intron_variant,6.705,\N,\N,PDZD7
200049,10:102771073:C>A,NM_001195263.1:c.2005+374G>T,\N,\N,14/16,Unknown significance,\N,intron_variant,8.605,\N,\N,PDZD7
200050,10:102771088:G>A,NM_001195263.1:c.2005+359C>T,\N,\N,14/16,Unknown significance,\N,intron_variant,2.22,0.0008,1KG_AFR_AF,PDZD7
200051,10:102771090:G>A,NM_001195263.1:c.2005+357C>T,\N,\N,14/16,Unknown significance,\N,intron_variant,0.024,0.001,1KG_EUR_AF,PDZD7
200052,10:102771098:T>C,NM_001195263.1:c.2005+349A>G,\N,\N,14/16,Unknown significance,\N,intron_variant,1.355,0.001,1KG_EAS_AF,PDZD7
200053,10:102771105:A>T,NM_001195263.1:c.2005+342T>A,\N,\N,14/16,Unknown significance,\N,intron_variant,0.928,\N,\N,PDZD7
200054,10:102771131:G>A,NM_001195263.1:c.2005+316C>T,\N,\N,14/16,Unknown significance,\N,intron_variant,2.491,\N,\N,PDZD7
200055,10:102771145:T>C,NM_001195263.1:c.2005+302A>G,\N,\N,14/16,Unknown significance,\N,intron_variant,1.003,\N,\N,PDZD7
200056,10:102771173:G>A,NM_001195263.1:c.2005+274C>T,\N,\N,14/16,Benign,\N,intron_variant,3.513,0.0076,1KG_AFR_AF,PDZD7
200057,10:102771203:T>C,NM_001195263.1:c.2005+244A>G,\N,\N,14/16,Benign,\N,intron_variant,0.423,0.0527,1KG_EUR_AF,PDZD7
200058,10:102771219:A>G,NM_001195263.1:c.2005+228T>C,\N,\N,14/16,Unknown significance,\N,intron_variant,1.843,\N,\N,PDZD7
200059,10:102771303:T>G,NM_001195263.1:c.2005+144A>C,\N,\N,14/16,Unknown significance,\N,intron_variant,5.733,0.0014,1KG_AMR_AF,PDZD7
200060,10:102771372:A>G,NM_001195263.1:c.2005+75T>C,\N,\N,14/16,Unknown significance,\N,intron_variant,1.379,0.0023,1KG_AFR_AF,PDZD7
200061,10:102771421:C>T,NM_001195263.1:c.2005+26G>A,\N,\N,14/16,Unknown significance,\N,intron_variant,16.18,\N,\N,PDZD7
200062,10:102771426:G>A,NM_001195263.1:c.2005+21C>T,\N,\N,14/16,Unknown significance,\N,intron_variant,14.95,0.00328084,EXAC_SAS_AF,PDZD7
200063,10:102771437:T>A,NM_001195263.1:c.2005+10A>T,\N,\N,14/16,Unknown significance,\N,intron_variant,19.15,\N,\N,PDZD7
200064,10:102771481:C>A,NM_001195263.1:c.1971G>T,NP_001182192.1:p.Thr657=,14/17,\N,Unknown significance,\N,synonymous_variant,4.162,0.001,1KG_EUR_AF,PDZD7
200065,10:102771492:G>A,NM_001195263.1:c.1960C>T,NP_001182192.1:p.Arg654Trp,14/17,\N,Unknown significance,\N,missense_variant,13.12,0.001,1KG_SAS_AF,PDZD7
200066,10:102771510:G>A,NM_001195263.1:c.1942C>T,NP_001182192.1:p.Pro648Ser,14/17,\N,Unknown significance,\N,missense_variant,10.07,0.00459519,EXAC_NFE_AF,PDZD7
200067,10:102771515:C>T,NM_001195263.1:c.1937G>A,NP_001182192.1:p.Arg646Gln,14/17,\N,Unknown significance,\N,missense_variant,8.874,0.000131199,EXAC_SAS_AF,PDZD7
200068,10:102771539:G>A,NM_001195263.1:c.1934-21C>T,\N,\N,13/16,Unknown significance,\N,intron_variant,8.66,0.000262329,EXAC_SAS_AF,PDZD7
200069,10:102771542:A>G,NM_001195263.1:c.1934-24T>C,\N,\N,13/16,Benign,\N,intron_variant,7.382,0.00720461,EXAC_AFR_AF,PDZD7
200070,10:102771543:GC>G,NM_001195263.1:c.1934-26del,\N,\N,13/16,Unknown significance,\N,intron_variant,\N,\N,\N,PDZD7
200071,10:102771552:T>C,NM_001195263.1:c.1934-34A>G,\N,\N,13/16,Unknown significance,\N,intron_variant,1.536,0.00297619,EXAC_EAS_AF,PDZD7
200072,10:102771553:AC>A,NM_001195263.1:c.1934-36del,\N,\N,13/16,Unknown significance,\N,intron_variant,1.812,0.00422535,EXAC_AFR_AF,PDZD7
200073,10:102771554:C>A,NM_001195263.1:c.1934-36G>T,\N,\N,13/16,Benign,\N,intron_variant,7.048,0.0079,1KG_EAS_AF,PDZD7
200074,10:102771558:G>T,NM_001195263.1:c.1934-40C>A,\N,\N,13/16,Unknown significance,\N,intron_variant,2.23,\N,\N,PDZD7
200075,10:102771573:G>A,NM_001195263.1:c.1934-55C>T,\N,\N,13/16,Benign,\N,intron_variant,5.619,0.5724,1KG_EAS_AF,PDZD7
200076,10:102771590:C>T,NM_001195263.1:c.1934-72G>A,\N,\N,13/16,Unknown significance,\N,intron_variant,6.891,0.003,1KG_EAS_AF,PDZD7
200077,10:102771592:C>T,NM_001195263.1:c.1934-74G>A,\N,\N,13/16,Unknown significance,\N,intron_variant,5.953,0.0043,1KG_AMR_AF,PDZD7
200078,10:102771593:G>A,NM_001195263.1:c.1934-75C>T,\N,\N,13/16,Unknown significance,\N,intron_variant,3.647,\N,\N,PDZD7
200079,10:102771593:G>C,NM_001195263.1:c.1934-75C>G,\N,\N,13/16,Benign,\N,intron_variant,0.756,0.0076,1KG_AFR_AF,PDZD7
200080,10:102771612:T>C,NM_001195263.1:c.1933+70A>G,\N,\N,13/16,Unknown significance,\N,intron_variant,1.611,\N,\N,PDZD7
200081,10:102771619:C>T,NM_001195263.1:c.1933+63G>A,\N,\N,13/16,Unknown significance,\N,intron_variant,5.247,\N,\N,PDZD7
200082,10:102771635:C>A,NM_001195263.1:c.1933+47G>T,\N,\N,13/16,Unknown significance,\N,intron_variant,4.397,0.00221729,EXAC_AFR_AF,PDZD7
200083,10:102771636:C>G,NM_001195263.1:c.1933+46G>C,\N,\N,13/16,Benign,\N,intron_variant,6.005,0.0466667,EXAC_AFR_AF,PDZD7
200084,10:102771646:G>T,NM_001195263.1:c.1933+36C>A,\N,\N,13/16,Unknown significance,\N,intron_variant,0.708,\N,\N,PDZD7
200085,10:102771671:C>G,NM_001195263.1:c.1933+11G>C,\N,\N,13/16,Unknown significance,\N,intron_variant,4.679,0.000913123,EXAC_SAS_AF,PDZD7
200086,10:102771686:C>T,NM_001195263.1:c.1929G>A,NP_001182192.1:p.Arg643=,13/17,\N,Unknown significance,\N,synonymous_variant,11.84,0.0034965,EXAC_AMR_AF,PDZD7
200087,10:102771696:A>G,NM_001195263.1:c.1919T>C,NP_001182192.1:p.Leu640Pro,13/17,\N,Unknown significance,\N,missense_variant,13.09,0.00110375,EXAC_AFR_AF,PDZD7
200088,10:102771699:G>C,NM_001195263.1:c.1916C>G,NP_001182192.1:p.Ala639Gly,13/17,\N,Benign,\N,missense_variant,11.13,0.0123,1KG_SAS_AF,PDZD7
200089,10:102771710:C>T,NM_001195263.1:c.1905G>A,NP_001182192.1:p.Glu635=,13/17,\N,Benign,\N,synonymous_variant,16.68,0.0159,1KG_AFR_AF,PDZD7
200090,10:102771730:C>T,NM_001195263.1:c.1885G>A,NP_001182192.1:p.Val629Met,13/17,\N,Unknown significance,\N,missense_variant,34,0.000130446,EXAC_SAS_AF,PDZD7
200091,10:102771732:A>G,NM_001195263.1:c.1883T>C,NP_001182192.1:p.Met628Thr,13/17,\N,Unknown significance,\N,missense_variant,24.1,0.000130446,EXAC_SAS_AF,PDZD7
200092,10:102771740:G>A,NM_001195263.1:c.1875C>T,NP_001182192.1:p.Phe625=,13/17,\N,Unknown significance,\N,synonymous_variant,12.71,\N,\N,PDZD7
200093,10:102771774:C>T,NM_001195263.1:c.1842-1G>A,\N,\N,12/16,Unknown significance,\N,splice_acceptor_variant,26.4,0.001,1KG_SAS_AF,PDZD7
200094,10:102771776:G>C,NM_001195263.1:c.1842-3C>G,\N,\N,12/16,Unknown significance,\N,splice_region_variant&intron_variant,6.354,0.000130617,EXAC_SAS_AF,PDZD7
200095,10:102771782:G>T,NM_001195263.1:c.1842-9C>A,\N,\N,12/16,Unknown significance,\N,intron_variant,2.111,0.00110132,EXAC_AFR_AF,PDZD7
200096,10:102771803:G>C,NM_001195263.1:c.1842-30C>G,\N,\N,12/16,Unknown significance,\N,intron_variant,0.378,0.000130719,EXAC_SAS_AF,PDZD7
200097,10:102771822:C>A,NM_001195263.1:c.1842-49G>T,\N,\N,12/16,Unknown significance,\N,intron_variant,6.46,0.001,1KG_SAS_AF,PDZD7
200098,10:102771823:A>C,NM_001195263.1:c.1842-50T>G,\N,\N,12/16,Benign,\N,intron_variant,1.886,0.01,EXAC_FIN_AF,PDZD7
200099,10:102771864:T>TG,NM_001195263.1:c.1841+59dup,\N,\N,12/16,Unknown significance,\N,intron_variant,\N,\N,\N,PDZD7
200100,10:102771876:C>G,NM_001195263.1:c.1841+48G>C,\N,\N,12/16,Unknown significance,\N,intron_variant,7.599,\N,\N,PDZD7
200101,10:102771893:C>G,NM_001195263.1:c.1841+31G>C,\N,\N,12/16,Unknown significance,\N,intron_variant,6.789,0.001,1KG_EAS_AF,PDZD7
200102,10:102771895:C>T,NM_001195263.1:c.1841+29G>A,\N,\N,12/16,Unknown significance,\N,intron_variant,8.607,\N,\N,PDZD7
200103,10:102771897:C>G,NM_001195263.1:c.1841+27G>C,\N,\N,12/16,Unknown significance,\N,intron_variant,4.777,\N,\N,PDZD7
200104,10:102771902:C>A,NM_001195263.1:c.1841+22G>T,\N,\N,12/16,Unknown significance,\N,intron_variant,9.199,0.003,1KG_EAS_AF,PDZD7
200105,10:102771905:C>G,NM_001195263.1:c.1841+19G>C,\N,\N,12/16,Unknown significance,\N,intron_variant,6.169,0.00344828,EXAC_AMR_AF,PDZD7
200106,10:102771924:C>G,NM_001195263.1:c.1841G>C,NP_001182192.1:p.Arg614Thr,12/17,\N,Unknown significance,\N,missense_variant&splice_region_variant,31,\N,\N,PDZD7
200107,10:102771954:G>T,NM_001195263.1:c.1811C>A,NP_001182192.1:p.Pro604Gln,12/17,\N,Unknown significance,\N,missense_variant,28,0.0008,1KG_AFR_AF,PDZD7
200108,10:102771973:G>T,NM_001195263.1:c.1792C>A,NP_001182192.1:p.Leu598Met,12/17,\N,Unknown significance,\N,missense_variant,24.9,0.000260892,EXAC_SAS_AF,PDZD7
200109,10:102772007:G>T,NM_001195263.1:c.1758C>A,NP_001182192.1:p.His586Gln,12/17,\N,Unknown significance,\N,missense_variant,0.002,\N,\N,PDZD7
200110,10:102772013:A>G,NM_001195263.1:c.1752T>C,NP_001182192.1:p.Tyr584=,12/17,\N,Benign,\N,splice_region_variant&synonymous_variant,2.111,0.0051,1KG_SAS_AF,PDZD7
200111,10:102772014:T>G,NM_001195263.1:c.1751A>C,NP_001182192.1:p.Tyr584Ser,12/17,\N,Unknown significance,\N,missense_variant&splice_region_variant,28.2,0.001,1KG_EAS_AF,PDZD7
200112,10:102772017:T>C,NM_001195263.1:c.1750-2A>G,\N,\N,11/16,Pathogenic,Phenotype modifier in Usher syndrome,splice_acceptor_variant,25,\N,\N,PDZD7
200113,10:102772018:G>A,NM_001195263.1:c.1750-3C>T,\N,\N,11/16,Unknown significance,\N,splice_region_variant&intron_variant,15.01,0.0013048,EXAC_SAS_AF,PDZD7
200114,10:102772106:G>C,NM_001195263.1:c.1750-91C>G,\N,\N,11/16,Unknown significance,\N,intron_variant,0.536,0.0015,1KG_AFR_AF,PDZD7
200115,10:102772125:G>C,NM_001195263.1:c.1750-110C>G,\N,\N,11/16,Benign,\N,intron_variant,5.636,0.0189,1KG_AFR_AF,PDZD7
200116,10:102772131:C>T,NM_001195263.1:c.1750-116G>A,\N,\N,11/16,Unknown significance,\N,intron_variant,7.986,\N,\N,PDZD7
200117,10:102772135:C>T,NM_001195263.1:c.1750-120G>A,\N,\N,11/16,Unknown significance,\N,intron_variant,7.188,\N,\N,PDZD7
200118,10:102772211:A>G,NM_001195263.1:c.1750-196T>C,\N,\N,11/16,Benign,\N,intron_variant,2.938,0.0885,1KG_EUR_AF,PDZD7
200119,10:102772225:A>G,NM_001195263.1:c.1750-210T>C,\N,\N,11/16,Benign,\N,intron_variant,2.425,0.0164,1KG_SAS_AF,PDZD7
200120,10:102772256:G>A,NM_001195263.1:c.1750-241C>T,\N,\N,11/16,Benign,\N,intron_variant,7.116,0.0885,1KG_EUR_AF,PDZD7
200121,10:102772283:A>C,NM_001195263.1:c.1750-268T>G,\N,\N,11/16,Benign,\N,intron_variant,1.117,0.6292,1KG_EUR_AF,PDZD7
200122,10:102772330:G>A,NM_001195263.1:c.1750-315C>T,\N,\N,11/16,Unknown significance,\N,intron_variant,4.579,\N,\N,PDZD7
200123,10:102772342:C>T,NM_001195263.1:c.1750-327G>A,\N,\N,11/16,Unknown significance,\N,intron_variant,5.942,0.001,1KG_SAS_AF,PDZD7
200124,10:102772343:G>A,NM_001195263.1:c.1750-328C>T,\N,\N,11/16,Unknown significance,\N,intron_variant,1.107,0.0015,1KG_AFR_AF,PDZD7
200125,10:102772345:A>C,NM_001195263.1:c.1750-330T>G,\N,\N,11/16,Unknown significance,\N,intron_variant,1.149,0.002,1KG_SAS_AF,PDZD7
200126,10:102772347:A>ACT,NM_001195263.1:c.1750-333_1750-332insAG,\N,\N,11/16,Unknown significance,\N,intron_variant,\N,\N,\N,PDZD7
200127,10:102772347:A>ATG,NM_001195263.1:c.1750-333_1750-332insCA,\N,\N,11/16,Unknown significance,\N,intron_variant,\N,\N,\N,PDZD7
200128,10:102772348:C>CTG,NM_001195263.1:c.1750-334_1750-333insCA,\N,\N,11/16,Benign,\N,intron_variant,11.8,0.8674,1KG_AMR_AF,PDZD7
200129,10:102772349:A>ATG,NM_001195263.1:c.1750-335_1750-334insCA,\N,\N,11/16,Unknown significance,\N,intron_variant,\N,\N,\N,PDZD7
200130,10:102772349:A>T,NM_001195263.1:c.1750-334T>A,\N,\N,11/16,Unknown significance,\N,intron_variant,7.713,\N,\N,PDZD7
200131,10:102772416:G>T,NM_001195263.1:c.1750-401C>A,\N,\N,11/16,Unknown significance,\N,intron_variant,13.79,\N,\N,PDZD7
200132,10:102772458:T>C,NM_001195263.1:c.1750-443A>G,\N,\N,11/16,Unknown significance,\N,intron_variant,13.4,0.0008,1KG_AFR_AF,PDZD7
200133,10:102772459:G>A,NM_001195263.1:c.1750-444C>T,\N,\N,11/16,Unknown significance,\N,intron_variant,14.87,\N,\N,PDZD7
200134,10:102772487:C>G,NM_001195263.1:c.1750-472G>C,\N,\N,11/16,Benign,\N,intron_variant,15.81,0.0159,1KG_AFR_AF,PDZD7
200135,10:102772564:C>T,NM_001195263.1:c.1750-549G>A,\N,\N,11/16,Unknown significance,\N,intron_variant,7.034,0.0008,1KG_AFR_AF,PDZD7
200136,10:102772604:GC>G,NM_001195263.1:c.1750-590del,\N,\N,11/16,Unknown significance,\N,intron_variant,\N,\N,\N,PDZD7
200137,10:102772607:T>C,NM_001195263.1:c.1750-592A>G,\N,\N,11/16,Unknown significance,\N,intron_variant,2.014,0.001,1KG_EAS_AF,PDZD7
200138,10:102772647:C>T,NM_001195263.1:c.1750-632G>A,\N,\N,11/16,Unknown significance,\N,intron_variant,7.758,\N,\N,PDZD7
200139,10:102772656:G>A,NM_001195263.1:c.1750-641C>T,\N,\N,11/16,Benign,\N,intron_variant,1.607,0.1082,1KG_AFR_AF,PDZD7
200140,10:102772678:C>T,NM_001195263.1:c.1750-663G>A,\N,\N,11/16,Unknown significance,\N,intron_variant,12.01,0.0014,1KG_AMR_AF,PDZD7
200141,10:102772679:G>A,NM_001195263.1:c.1750-664C>T,\N,\N,11/16,Unknown significance,\N,intron_variant,12.49,\N,\N,PDZD7
200142,10:102772715:C>A,NM_001195263.1:c.1750-700G>T,\N,\N,11/16,Unknown significance,\N,intron_variant,15.8,\N,\N,PDZD7
200143,10:102772720:C>T,NM_001195263.1:c.1750-705G>A,\N,\N,11/16,Benign,\N,intron_variant,15.75,0.0855,1KG_EUR_AF,PDZD7
200144,10:102772721:A>G,NM_001195263.1:c.1750-706T>C,\N,\N,11/16,Unknown significance,\N,intron_variant,13.05,0.0008,1KG_AFR_AF,PDZD7
200145,10:102772723:T>C,NM_001195263.1:c.1750-708A>G,\N,\N,11/16,Unknown significance,\N,intron_variant,13.54,0.001,1KG_SAS_AF,PDZD7
200146,10:102772746:C>A,NM_001195263.1:c.1750-731G>T,\N,\N,11/16,Unknown significance,\N,intron_variant,9.437,\N,\N,PDZD7
200147,10:102772751:C>T,NM_001195263.1:c.1750-736G>A,\N,\N,11/16,Unknown significance,\N,intron_variant,7.686,\N,\N,PDZD7
200148,10:102772791:C>T,NM_001195263.1:c.1750-776G>A,\N,\N,11/16,Unknown significance,\N,intron_variant,5.947,\N,\N,PDZD7
200149,10:102772796:A>G,NM_001195263.1:c.1750-781T>C,\N,\N,11/16,Unknown significance,\N,intron_variant,3.615,0.0041,1KG_SAS_AF,PDZD7
200150,10:102772800:A>T,NM_001195263.1:c.1750-785T>A,\N,\N,11/16,Benign,\N,intron_variant,1.021,0.0091,1KG_AFR_AF,PDZD7
200151,10:102772810:A>G,NM_001195263.1:c.1750-795T>C,\N,\N,11/16,Unknown significance,\N,intron_variant,0.625,\N,\N,PDZD7
200152,10:102772836:T>C,NM_001195263.1:c.1750-821A>G,\N,\N,11/16,Unknown significance,\N,intron_variant,6.87,0.0008,1KG_AFR_AF,PDZD7
200153,10:102772840:T>C,NM_001195263.1:c.1750-825A>G,\N,\N,11/16,Benign,\N,intron_variant,7.395,0.8472,1KG_AFR_AF,PDZD7
200154,10:102772896:T>G,NM_001195263.1:c.1750-881A>C,\N,\N,11/16,Unknown significance,\N,intron_variant,3.744,\N,\N,PDZD7
200155,10:102772931:C>T,NM_001195263.1:c.1750-916G>A,\N,\N,11/16,Unknown significance,\N,intron_variant,13.7,\N,\N,PDZD7
200156,10:102772941:C>T,NM_001195263.1:c.1750-926G>A,\N,\N,11/16,Benign,\N,intron_variant,13.2,0.0166,1KG_AFR_AF,PDZD7
200157,10:102772944:A>C,NM_001195263.1:c.1750-929T>G,\N,\N,11/16,Unknown significance,\N,intron_variant,9.582,0.001,1KG_SAS_AF,PDZD7
200158,10:102772971:G>A,NM_001195263.1:c.1750-956C>T,\N,\N,11/16,Unknown significance,\N,intron_variant,6.996,\N,\N,PDZD7
200159,10:102772979:A>C,NM_001195263.1:c.1750-964T>G,\N,\N,11/16,Unknown significance,\N,intron_variant,1.819,0.001,1KG_EAS_AF,PDZD7
200160,10:102772981:A>T,NM_001195263.1:c.1750-966T>A,\N,\N,11/16,Unknown significance,\N,intron_variant,0.538,0.001,1KG_SAS_AF,PDZD7
200161,10:102773011:C>T,NM_001195263.1:c.1750-996G>A,\N,\N,11/16,Benign,\N,intron_variant,6.416,0.7334,1KG_AMR_AF,PDZD7
200162,10:102773014:G>A,NM_001195263.1:c.1750-999C>T,\N,\N,11/16,Unknown significance,\N,intron_variant,4.949,\N,\N,PDZD7
200163,10:102773028:G>C,NM_001195263.1:c.1750-1013C>G,\N,\N,11/16,Unknown significance,\N,intron_variant,0.669,0.001,1KG_EUR_AF,PDZD7
200164,10:102773038:C>T,NM_001195263.1:c.1750-1023G>A,\N,\N,11/16,Unknown significance,\N,intron_variant,6.315,0.0014,1KG_AMR_AF,PDZD7
200165,10:102773039:G>A,NM_001195263.1:c.1750-1024C>T,\N,\N,11/16,Unknown significance,\N,intron_variant,5.194,\N,\N,PDZD7
200166,10:102773081:A>G,NM_001195263.1:c.1750-1066T>C,\N,\N,11/16,Unknown significance,\N,intron_variant,4.449,0.002,1KG_SAS_AF,PDZD7
200167,10:102773114:G>A,NM_001195263.1:c.1750-1099C>T,\N,\N,11/16,Benign,\N,intron_variant,3.431,0.0189,1KG_AFR_AF,PDZD7
200168,10:102773134:A>T,NM_001195263.1:c.1750-1119T>A,\N,\N,11/16,Unknown significance,\N,intron_variant,4.747,\N,\N,PDZD7
200169,10:102773174:A>G,NM_001195263.1:c.1750-1159T>C,\N,\N,11/16,Benign,\N,intron_variant,6.872,0.1082,1KG_AFR_AF,PDZD7
200170,10:102773220:C>G,NM_001195263.1:c.1750-1205G>C,\N,\N,11/16,Unknown significance,\N,intron_variant,5.453,\N,\N,PDZD7
200171,10:102773237:T>C,NM_001195263.1:c.1750-1222A>G,\N,\N,11/16,Unknown significance,\N,intron_variant,1.828,0.0014,1KG_AMR_AF,PDZD7
200172,10:102773260:T>C,NM_001195263.1:c.1750-1245A>G,\N,\N,11/16,Benign,\N,intron_variant,3.341,0.0591,1KG_AMR_AF,PDZD7
200173,10:102773328:T>C,NM_001195263.1:c.1750-1313A>G,\N,\N,11/16,Unknown significance,\N,intron_variant,1.541,\N,\N,PDZD7
200174,10:102773332:G>T,NM_001195263.1:c.1750-1317C>A,\N,\N,11/16,Unknown significance,\N,intron_variant,2.085,0.0015,1KG_AFR_AF,PDZD7
200175,10:102773365:C>A,NM_001195263.1:c.1750-1350G>T,\N,\N,11/16,Unknown significance,\N,intron_variant,7.031,\N,\N,PDZD7
200176,10:102773370:T>C,NM_001195263.1:c.1750-1355A>G,\N,\N,11/16,Benign,\N,intron_variant,3.059,0.0749,1KG_AFR_AF,PDZD7
200177,10:102773396:T>G,NM_001195263.1:c.1750-1381A>C,\N,\N,11/16,Unknown significance,\N,intron_variant,5.131,0.001,1KG_EAS_AF,PDZD7
200178,10:102773403:G>A,NM_001195263.1:c.1750-1388C>T,\N,\N,11/16,Unknown significance,\N,intron_variant,5.133,\N,\N,PDZD7
200179,10:102773407:C>T,NM_001195263.1:c.1750-1392G>A,\N,\N,11/16,Unknown significance,\N,intron_variant,5.046,0.002,1KG_SAS_AF,PDZD7
200180,10:102773417:G>A,NM_001195263.1:c.1750-1402C>T,\N,\N,11/16,Unknown significance,\N,intron_variant,6.145,\N,\N,PDZD7
200181,10:102773427:T>C,NM_001195263.1:c.1750-1412A>G,\N,\N,11/16,Unknown significance,\N,intron_variant,1.038,\N,\N,PDZD7
200182,10:102773428:T>C,NM_001195263.1:c.1750-1413A>G,\N,\N,11/16,Unknown significance,\N,intron_variant,0.566,0.003,1KG_AFR_AF,PDZD7
200183,10:102773444:C>G,NM_001195263.1:c.1750-1429G>C,\N,\N,11/16,Benign,\N,intron_variant,3.298,0.005,1KG_EAS_AF,PDZD7
200184,10:102773455:C>T,NM_001195263.1:c.1750-1440G>A,\N,\N,11/16,Unknown significance,\N,intron_variant,6.984,0.001,1KG_EUR_AF,PDZD7
200185,10:102773456:C>T,NM_001195263.1:c.1750-1441G>A,\N,\N,11/16,Unknown significance,\N,intron_variant,7.936,\N,\N,PDZD7
200186,10:102773460:G>T,NM_001195263.1:c.1750-1445C>A,\N,\N,11/16,Unknown significance,\N,intron_variant,3.639,0.001,1KG_SAS_AF,PDZD7
200187,10:102773467:G>T,NM_001195263.1:c.1750-1452C>A,\N,\N,11/16,Unknown significance,\N,intron_variant,0.954,0.0008,1KG_AFR_AF,PDZD7
200188,10:102773502:A>G,NM_001195263.1:c.1750-1487T>C,\N,\N,11/16,Unknown significance,\N,intron_variant,2.663,0.002,1KG_EAS_AF,PDZD7
200189,10:102773554:G>A,NM_001195263.1:c.1750-1539C>T,\N,\N,11/16,Unknown significance,\N,intron_variant,2.318,0.0008,1KG_AFR_AF,PDZD7
200190,10:102773604:C>T,NM_001195263.1:c.1750-1589G>A,\N,\N,11/16,Unknown significance,\N,intron_variant,0.449,\N,\N,PDZD7
200191,10:102773608:C>CT,NM_001195263.1:c.1750-1594dup,\N,\N,11/16,Unknown significance,\N,intron_variant,0.855,\N,\N,PDZD7
200192,10:102773608:CT>C,NM_001195263.1:c.1750-1594del,\N,\N,11/16,Unknown significance,\N,intron_variant,1.589,\N,\N,PDZD7
200193,10:102773612:T>C,NM_001195263.1:c.1750-1597A>G,\N,\N,11/16,Unknown significance,\N,intron_variant,0.623,0.0015,1KG_AFR_AF,PDZD7
200194,10:102773613:T>C,NM_001195263.1:c.1750-1598A>G,\N,\N,11/16,Unknown significance,\N,intron_variant,0.086,\N,\N,PDZD7
200195,10:102773629:T>C,NM_001195263.1:c.1750-1614A>G,\N,\N,11/16,Benign,\N,intron_variant,1.715,0.8689,1KG_AMR_AF,PDZD7
200196,10:102773655:G>A,NM_001195263.1:c.1750-1640C>T,\N,\N,11/16,Unknown significance,\N,intron_variant,2.175,0.001,1KG_EAS_AF,PDZD7
200197,10:102773669:C>T,NM_001195263.1:c.1750-1654G>A,\N,\N,11/16,Unknown significance,\N,intron_variant,0.013,0.001,1KG_SAS_AF,PDZD7
200198,10:102773690:T>A,NM_001195263.1:c.1750-1675A>T,\N,\N,11/16,Unknown significance,\N,intron_variant,4.35,0.001,1KG_SAS_AF,PDZD7
200199,10:102773699:A>C,NM_001195263.1:c.1750-1684T>G,\N,\N,11/16,Unknown significance,\N,intron_variant,0.033,\N,\N,PDZD7
200200,10:102773709:C>G,NM_001195263.1:c.1749+1684G>C,\N,\N,11/16,Unknown significance,\N,intron_variant,0.268,\N,\N,PDZD7
200201,10:102773709:C>T,NM_001195263.1:c.1749+1684G>A,\N,\N,11/16,Unknown significance,\N,intron_variant,0.553,0.0008,1KG_AFR_AF,PDZD7
200202,10:102773731:C>T,NM_001195263.1:c.1749+1662G>A,\N,\N,11/16,Unknown significance,\N,intron_variant,0.056,\N,\N,PDZD7
200203,10:102773732:G>A,NM_001195263.1:c.1749+1661C>T,\N,\N,11/16,Unknown significance,\N,intron_variant,0.204,0.001,1KG_EUR_AF,PDZD7
200204,10:102773752:G>A,NM_001195263.1:c.1749+1641C>T,\N,\N,11/16,Unknown significance,\N,intron_variant,0.054,0.0015,1KG_AFR_AF,PDZD7
200205,10:102773757:C>T,NM_001195263.1:c.1749+1636G>A,\N,\N,11/16,Unknown significance,\N,intron_variant,0.961,0.0008,1KG_AFR_AF,PDZD7
200206,10:102773758:C>G,NM_001195263.1:c.1749+1635G>C,\N,\N,11/16,Unknown significance,\N,intron_variant,1.373,0.001,1KG_EAS_AF,PDZD7
200207,10:102773772:AT>A,NM_001195263.1:c.1749+1620del,\N,\N,11/16,Benign,\N,intron_variant,2.416,0.7896,1KG_AMR_AF,PDZD7
200208,10:102773772:ATT>A,NM_001195263.1:c.1749+1619_1749+1620del,\N,\N,11/16,Unknown significance,\N,intron_variant,0.582,\N,\N,PDZD7
200209,10:102773846:C>A,NM_001195263.1:c.1749+1547G>T,\N,\N,11/16,Unknown significance,\N,intron_variant,1.846,\N,\N,PDZD7
200210,10:102773858:C>T,NM_001195263.1:c.1749+1535G>A,\N,\N,11/16,Unknown significance,\N,intron_variant,1.548,0.002,1KG_EUR_AF,PDZD7
200211,10:102773859:G>A,NM_001195263.1:c.1749+1534C>T,\N,\N,11/16,Unknown significance,\N,intron_variant,0.919,0.001,1KG_EAS_AF,PDZD7
200212,10:102773867:C>T,NM_001195263.1:c.1749+1526G>A,\N,\N,11/16,Unknown significance,\N,intron_variant,0.467,0.001,1KG_EAS_AF,PDZD7
200213,10:102773895:C>T,NM_001195263.1:c.1749+1498G>A,\N,\N,11/16,Unknown significance,\N,intron_variant,3.39,0.002,1KG_EAS_AF,PDZD7
200214,10:102773905:C>T,NM_001195263.1:c.1749+1488G>A,\N,\N,11/16,Unknown significance,\N,intron_variant,0.014,0.002,1KG_EAS_AF,PDZD7
200215,10:102773906:G>A,NM_001195263.1:c.1749+1487C>T,\N,\N,11/16,Unknown significance,\N,intron_variant,1.641,0.001,1KG_EUR_AF,PDZD7
200216,10:102773950:G>C,NM_001195263.1:c.1749+1443C>G,\N,\N,11/16,Unknown significance,\N,intron_variant,10.05,\N,\N,PDZD7
200217,10:102773958:G>C,NM_001195263.1:c.1749+1435C>G,\N,\N,11/16,Unknown significance,\N,intron_variant,10.62,0.0008,1KG_AFR_AF,PDZD7
200218,10:102773969:C>T,NM_001195263.1:c.1749+1424G>A,\N,\N,11/16,Unknown significance,\N,intron_variant,12.55,\N,\N,PDZD7
200219,10:102774027:C>G,NM_001195263.1:c.1749+1366G>C,\N,\N,11/16,Unknown significance,\N,intron_variant,3.512,0.002,1KG_EAS_AF,PDZD7
200220,10:102774045:C>A,NM_001195263.1:c.1749+1348G>T,\N,\N,11/16,Unknown significance,\N,intron_variant,7.207,\N,\N,PDZD7
200221,10:102774058:G>A,NM_001195263.1:c.1749+1335C>T,\N,\N,11/16,Unknown significance,\N,intron_variant,3.414,\N,\N,PDZD7
200222,10:102774086:G>A,NM_001195263.1:c.1749+1307C>T,\N,\N,11/16,Unknown significance,\N,intron_variant,3.485,0.0014,1KG_AMR_AF,PDZD7
200223,10:102774091:G>A,NM_001195263.1:c.1749+1302C>T,\N,\N,11/16,Unknown significance,\N,intron_variant,5.874,0.001,1KG_EAS_AF,PDZD7
200224,10:102774107:G>A,NM_001195263.1:c.1749+1286C>T,\N,\N,11/16,Benign,\N,intron_variant,2.951,0.0091,1KG_AFR_AF,PDZD7
200225,10:102774110:G>C,NM_001195263.1:c.1749+1283C>G,\N,\N,11/16,Benign,\N,intron_variant,0.569,0.0337,1KG_SAS_AF,PDZD7
200226,10:102774115:G>A,NM_001195263.1:c.1749+1278C>T,\N,\N,11/16,Benign,\N,intron_variant,2.236,0.0408,1KG_AFR_AF,PDZD7
200227,10:102774118:C>T,NM_001195263.1:c.1749+1275G>A,\N,\N,11/16,Unknown significance,\N,intron_variant,4.947,0.0045,1KG_AFR_AF,PDZD7
200228,10:102774156:A>G,NM_001195263.1:c.1749+1237T>C,\N,\N,11/16,Unknown significance,\N,intron_variant,4.819,\N,\N,PDZD7
200229,10:102774192:A>G,NM_001195263.1:c.1749+1201T>C,\N,\N,11/16,Unknown significance,\N,intron_variant,4.88,\N,\N,PDZD7
200230,10:102774210:C>G,NM_001195263.1:c.1749+1183G>C,\N,\N,11/16,Unknown significance,\N,intron_variant,2.083,\N,\N,PDZD7
200231,10:102774218:C>T,NM_001195263.1:c.1749+1175G>A,\N,\N,11/16,Unknown significance,\N,intron_variant,6.839,0,1KG_ALL_AF|1KG_AFR_AF|1KG_AMR_AF|1KG_EAS_AF|1KG_EUR_AF|1KG_SAS_AF,PDZD7
200232,10:102774219:G>A,NM_001195263.1:c.1749+1174C>T,\N,\N,11/16,Unknown significance,\N,intron_variant,5.719,0.001,1KG_SAS_AF,PDZD7
200233,10:102774239:C>T,NM_001195263.1:c.1749+1154G>A,\N,\N,11/16,Unknown significance,\N,intron_variant,5.789,0.001,1KG_SAS_AF,PDZD7
200234,10:102774246:C>T,NM_001195263.1:c.1749+1147G>A,\N,\N,11/16,Unknown significance,\N,intron_variant,6.81,\N,\N,PDZD7
200235,10:102774260:A>G,NM_001195263.1:c.1749+1133T>C,\N,\N,11/16,Unknown significance,\N,intron_variant,0.459,0.001,1KG_SAS_AF,PDZD7
200236,10:102774261:C>T,NM_001195263.1:c.1749+1132G>A,\N,\N,11/16,Unknown significance,\N,intron_variant,7.457,\N,\N,PDZD7
200237,10:102774301:C>T,NM_001195263.1:c.1749+1092G>A,\N,\N,11/16,Benign,\N,intron_variant,5.699,0.0053,1KG_AFR_AF,PDZD7
200238,10:102774309:AG>A,NM_001195263.1:c.1749+1083del,\N,\N,11/16,Unknown significance,\N,intron_variant,2.105,\N,\N,PDZD7
200239,10:102774330:C>A,NM_001195263.1:c.1749+1063G>T,\N,\N,11/16,Unknown significance,\N,intron_variant,7.615,0.001,1KG_SAS_AF,PDZD7
200240,10:102774330:C>T,NM_001195263.1:c.1749+1063G>A,\N,\N,11/16,Unknown significance,\N,intron_variant,7.318,\N,\N,PDZD7
200241,10:102774366:A>C,NM_001195263.1:c.1749+1027T>G,\N,\N,11/16,Unknown significance,\N,intron_variant,0.361,0.0008,1KG_AFR_AF,PDZD7
200242,10:102774372:C>A,NM_001195263.1:c.1749+1021G>T,\N,\N,11/16,Unknown significance,\N,intron_variant,5.841,\N,\N,PDZD7
200243,10:102774418:A>G,NM_001195263.1:c.1749+975T>C,\N,\N,11/16,Unknown significance,\N,intron_variant,10.64,0.0014,1KG_AMR_AF,PDZD7
200244,10:102774428:G>GACAC,NM_001195263.1:c.1749+961_1749+964dup,\N,\N,11/16,Unknown significance,\N,intron_variant,6.647,\N,\N,PDZD7
200245,10:102774428:G>GACACAC,NM_001195263.1:c.1749+959_1749+964dup,\N,\N,11/16,Benign,\N,intron_variant,6.364,0.8661,1KG_EAS_AF,PDZD7
200246,10:102774428:G>GACACACAC,NM_001195263.1:c.1749+957_1749+964dup,\N,\N,11/16,Unknown significance,\N,intron_variant,6.07,\N,\N,PDZD7
200247,10:102774435:A>ACACACC,NM_001195263.1:c.1749+957_1749+958insGGTGTG,\N,\N,11/16,Unknown significance,\N,intron_variant,\N,\N,\N,PDZD7
200248,10:102774435:A>ACACC,NM_001195263.1:c.1749+957_1749+958insGGTG,\N,\N,11/16,Unknown significance,\N,intron_variant,\N,\N,\N,PDZD7
200249,10:102774460:A>G,NM_001195263.1:c.1749+933T>C,\N,\N,11/16,Unknown significance,\N,intron_variant,4.013,0.0008,1KG_AFR_AF,PDZD7
200250,10:102774471:T>A,NM_001195263.1:c.1749+922A>T,\N,\N,11/16,Unknown significance,\N,intron_variant,2.426,0.0008,1KG_AFR_AF,PDZD7
200251,10:102774479:T>G,NM_001195263.1:c.1749+914A>C,\N,\N,11/16,Unknown significance,\N,intron_variant,4.408,0.001,1KG_EAS_AF,PDZD7
200252,10:102774480:G>GCA,NM_001195263.1:c.1749+911_1749+912dup,\N,\N,11/16,Benign,\N,intron_variant,3.722,0.1089,1KG_AFR_AF,PDZD7
200253,10:102774480:GCA>G,NM_001195263.1:c.1749+911_1749+912del,\N,\N,11/16,Unknown significance,\N,intron_variant,8.984,\N,\N,PDZD7
200254,10:102774481:C>CCA,NM_001195263.1:c.1749+911_1749+912insTG,\N,\N,11/16,Unknown significance,\N,intron_variant,\N,\N,\N,PDZD7
200255,10:102774493:C>A,NM_001195263.1:c.1749+900G>T,\N,\N,11/16,Unknown significance,\N,intron_variant,6.896,\N,\N,PDZD7
200256,10:102774550:A>G,NM_001195263.1:c.1749+843T>C,\N,\N,11/16,Unknown significance,\N,intron_variant,7.503,0.001,1KG_EUR_AF,PDZD7
200257,10:102774568:A>G,NM_001195263.1:c.1749+825T>C,\N,\N,11/16,Benign,\N,intron_variant,5.35,0.3807,1KG_EUR_AF,PDZD7
200258,10:102774597:G>A,NM_001195263.1:c.1749+796C>T,\N,\N,11/16,Unknown significance,\N,intron_variant,2.572,\N,\N,PDZD7
200259,10:102774636:T>G,NM_001195263.1:c.1749+757A>C,\N,\N,11/16,Benign,\N,intron_variant,6.213,0.0189,1KG_AFR_AF,PDZD7
200260,10:102774697:C>T,NM_001195263.1:c.1749+696G>A,\N,\N,11/16,Unknown significance,\N,intron_variant,5.486,\N,\N,PDZD7
200261,10:102774730:C>A,NM_001195263.1:c.1749+663G>T,\N,\N,11/16,Benign,\N,intron_variant,3.334,0.0069,1KG_EAS_AF,PDZD7
200262,10:102774741:G>T,NM_001195263.1:c.1749+652C>A,\N,\N,11/16,Benign,\N,intron_variant,0.346,0.0072,1KG_SAS_AF,PDZD7
200263,10:102774783:C>T,NM_001195263.1:c.1749+610G>A,\N,\N,11/16,Unknown significance,\N,intron_variant,5.178,\N,\N,PDZD7
200264,10:102774807:C>T,NM_001195263.1:c.1749+586G>A,\N,\N,11/16,Unknown significance,\N,intron_variant,3.842,\N,\N,PDZD7
200265,10:102774817:C>T,NM_001195263.1:c.1749+576G>A,\N,\N,11/16,Unknown significance,\N,intron_variant,2.321,0.0015,1KG_AFR_AF,PDZD7
200266,10:102774827:C>CT,NM_001195263.1:c.1749+565dup,\N,\N,11/16,Unknown significance,\N,intron_variant,5.855,\N,\N,PDZD7
200267,10:102774827:CT>C,NM_001195263.1:c.1749+565del,\N,\N,11/16,Benign,\N,intron_variant,7.053,0.0227,1KG_AFR_AF,PDZD7
200268,10:102774831:T>C,NM_001195263.1:c.1749+562A>G,\N,\N,11/16,Unknown significance,\N,intron_variant,2.167,\N,\N,PDZD7
200269,10:102774855:G>A,NM_001195263.1:c.1749+538C>T,\N,\N,11/16,Benign,\N,intron_variant,3.517,0.1104,1KG_AFR_AF,PDZD7
200270,10:102774937:G>A,NM_001195263.1:c.1749+456C>T,\N,\N,11/16,Unknown significance,\N,intron_variant,4.19,\N,\N,PDZD7
200271,10:102774948:A>G,NM_001195263.1:c.1749+445T>C,\N,\N,11/16,Benign,\N,intron_variant,7.37,0.005,1KG_EUR_AF,PDZD7
200272,10:102774956:G>A,NM_001195263.1:c.1749+437C>T,\N,\N,11/16,Unknown significance,\N,intron_variant,9.036,0.0008,1KG_AFR_AF,PDZD7
200273,10:102774969:A>G,NM_001195263.1:c.1749+424T>C,\N,\N,11/16,Unknown significance,\N,intron_variant,2.669,\N,\N,PDZD7
200274,10:102774989:G>A,NM_001195263.1:c.1749+404C>T,\N,\N,11/16,Benign,\N,intron_variant,7.852,0.0346,1KG_AMR_AF,PDZD7
200275,10:102775001:C>T,NM_001195263.1:c.1749+392G>A,\N,\N,11/16,Benign,\N,intron_variant,14.81,0.7292,1KG_AFR_AF,PDZD7
200276,10:102775027:G>T,NM_001195263.1:c.1749+366C>A,\N,\N,11/16,Benign,\N,intron_variant,2.454,0.9444,1KG_EAS_AF,PDZD7
200277,10:102775030:G>A,NM_001195263.1:c.1749+363C>T,\N,\N,11/16,Unknown significance,\N,intron_variant,1.569,\N,\N,PDZD7
200278,10:102775038:C>G,NM_001195263.1:c.1749+355G>C,\N,\N,11/16,Unknown significance,\N,intron_variant,1.415,0.001,1KG_SAS_AF,PDZD7
200279,10:102775045:T>G,NM_001195263.1:c.1749+348A>C,\N,\N,11/16,Unknown significance,\N,intron_variant,3.066,0.002,1KG_EAS_AF,PDZD7
200280,10:102775076:AG>A,NM_001195263.1:c.1749+316del,\N,\N,11/16,Benign,\N,intron_variant,0.542,0.0136,1KG_AFR_AF,PDZD7
200281,10:102775077:G>A,NM_001195263.1:c.1749+316C>T,\N,\N,11/16,Unknown significance,\N,intron_variant,1.485,\N,\N,PDZD7
200282,10:102775082:G>A,NM_001195263.1:c.1749+311C>T,\N,\N,11/16,Unknown significance,\N,intron_variant,0.828,\N,\N,PDZD7
200283,10:102775093:C>T,NM_001195263.1:c.1749+300G>A,\N,\N,11/16,Unknown significance,\N,intron_variant,4.099,0.0014,1KG_AMR_AF,PDZD7
200284,10:102775123:C>T,NM_001195263.1:c.1749+270G>A,\N,\N,11/16,Unknown significance,\N,intron_variant,3.039,\N,\N,PDZD7
200285,10:102775125:G>A,NM_001195263.1:c.1749+268C>T,\N,\N,11/16,Benign,\N,intron_variant,1.078,0.0076,1KG_AFR_AF,PDZD7
200286,10:102775133:T>G,NM_001195263.1:c.1749+260A>C,\N,\N,11/16,Benign,\N,intron_variant,0.622,0.0076,1KG_AFR_AF,PDZD7
200287,10:102775173:C>T,NM_001195263.1:c.1749+220G>A,\N,\N,11/16,Unknown significance,\N,intron_variant,3.702,0.0008,1KG_AFR_AF,PDZD7
200288,10:102775174:G>A,NM_001195263.1:c.1749+219C>T,\N,\N,11/16,Unknown significance,\N,intron_variant,4.952,\N,\N,PDZD7
200289,10:102775198:C>G,NM_001195263.1:c.1749+195G>C,\N,\N,11/16,Unknown significance,\N,intron_variant,0.99,0.0008,1KG_AFR_AF,PDZD7
200290,10:102775205:T>C,NM_001195263.1:c.1749+188A>G,\N,\N,11/16,Benign,\N,intron_variant,1.925,0.6952,1KG_AFR_AF,PDZD7
200291,10:102775221:ATGTG>A,NM_001195263.1:c.1749+168_1749+171del,\N,\N,11/16,Benign,\N,intron_variant,3.753,0.502,1KG_EAS_AF,PDZD7
200292,10:102775221:ATGTGTG>A,NM_001195263.1:c.1749+166_1749+171del,\N,\N,11/16,Benign,\N,intron_variant,4.435,0.3272,1KG_SAS_AF,PDZD7
200293,10:102775268:T>A,NM_001195263.1:c.1749+125A>T,\N,\N,11/16,Unknown significance,\N,intron_variant,5.978,\N,\N,PDZD7
200294,10:102775276:C>A,NM_001195263.1:c.1749+117G>T,\N,\N,11/16,Unknown significance,\N,intron_variant,9.667,0.0045,1KG_AFR_AF,PDZD7
200295,10:102775324:C>A,NM_001195263.1:c.1749+69G>T,\N,\N,11/16,Unknown significance,\N,intron_variant,12.39,0.003,1KG_EAS_AF,PDZD7
200296,10:102775345:G>A,NM_001195263.1:c.1749+48C>T,\N,\N,11/16,Unknown significance,\N,intron_variant,4.791,\N,\N,PDZD7
200297,10:102775349:C>CT,NM_001195263.1:c.1749+43dup,\N,\N,11/16,Unknown significance,\N,intron_variant,\N,\N,\N,PDZD7
200298,10:102775349:CT>C,NM_001195263.1:c.1749+43del,\N,\N,11/16,Benign,\N,intron_variant,2.624,0.5437,1KG_EUR_AF,PDZD7
200299,10:102775366:AG>A,NM_001195263.1:c.1749+26del,\N,\N,11/16,Benign,\N,intron_variant,0.515,0.00669643,EXAC_AFR_AF,PDZD7
200300,10:102775379:G>C,NM_001195263.1:c.1749+14C>G,\N,\N,11/16,Unknown significance,\N,intron_variant,0.732,0.0008,1KG_AFR_AF,PDZD7
200301,10:102775387:G>T,NM_001195263.1:c.1749+6C>A,\N,\N,11/16,Unknown significance,\N,splice_region_variant&intron_variant,5.996,0.000138696,EXAC_SAS_AF,PDZD7
200302,10:102775394:C>T,NM_001195263.1:c.1748G>A,NP_001182192.1:p.Arg583Gln,11/17,\N,Unknown significance,\N,missense_variant&splice_region_variant,15.57,0.001,1KG_EAS_AF,PDZD7
200303,10:102775406:C>T,NM_001195263.1:c.1736G>A,NP_001182192.1:p.Arg579His,11/17,\N,Unknown significance,\N,missense_variant,18.11,0.000132979,EXAC_SAS_AF,PDZD7
200304,10:102775410:T>G,NM_001195263.1:c.1732A>C,NP_001182192.1:p.Thr578Pro,11/17,\N,Unknown significance,\N,missense_variant,14.71,\N,\N,PDZD7
200305,10:102775426:G>A,NM_001195263.1:c.1716C>T,NP_001182192.1:p.Asp572=,11/17,\N,Unknown significance,\N,synonymous_variant,1.68,\N,\N,PDZD7
200306,10:102775434:T>C,NM_001195263.1:c.1708A>G,NP_001182192.1:p.Thr570Ala,11/17,\N,Unknown significance,\N,missense_variant,8.484,0.001,1KG_SAS_AF,PDZD7
200307,10:102775451:A>G,NM_001195263.1:c.1691T>C,NP_001182192.1:p.Leu564Pro,11/17,\N,Unknown significance,\N,missense_variant,21.8,0.00206612,EXAC_EAS_AF,PDZD7
200308,10:102775470:G>A,NM_001195263.1:c.1672C>T,NP_001182192.1:p.Arg558Trp,11/17,\N,Unknown significance,\N,missense_variant,20.6,0.000394633,EXAC_NFE_AF,PDZD7
200309,10:102775473:G>A,NM_001195263.1:c.1669C>T,NP_001182192.1:p.Arg557Trp,11/17,\N,Unknown significance,\N,missense_variant,21.9,0.00026096,EXAC_SAS_AF,PDZD7
200310,10:102775489:A>C,NM_001195263.1:c.1653T>G,NP_001182192.1:p.Val551=,11/17,\N,Benign,\N,synonymous_variant,12.35,0.00649351,EXAC_OTH_AF,PDZD7
200311,10:102775504:A>G,NM_001195263.1:c.1638T>C,NP_001182192.1:p.Asn546=,11/17,\N,Unknown significance,\N,synonymous_variant,1.39,\N,\N,PDZD7
200312,10:102775513:C>T,NM_001195263.1:c.1629G>A,NP_001182192.1:p.Gln543=,11/17,\N,Unknown significance,\N,synonymous_variant,10.43,0.001,1KG_EUR_AF,PDZD7
200313,10:102775517:C>T,NM_001195263.1:c.1625G>A,NP_001182192.1:p.Ser542Asn,11/17,\N,Unknown significance,\N,missense_variant,10.51,\N,\N,PDZD7
200314,10:102775529:C>T,NM_001195263.1:c.1613G>A,NP_001182192.1:p.Gly538Glu,11/17,\N,Benign,\N,missense_variant,10.41,0.0333333,EXAC_FIN_AF,PDZD7
200315,10:102775534:C>T,NM_001195263.1:c.1608G>A,NP_001182192.1:p.Arg536=,11/17,\N,Unknown significance,\N,synonymous_variant,18.29,0.001,1KG_EUR_AF,PDZD7
200316,10:102775553:C>T,NM_001195263.1:c.1589G>A,NP_001182192.1:p.Arg530Gln,11/17,\N,Unknown significance,\N,missense_variant,17.71,0.0015,1KG_AFR_AF,PDZD7
200317,10:102775558:C>T,NM_001195263.1:c.1584G>A,NP_001182192.1:p.Arg528=,11/17,\N,Unknown significance,\N,synonymous_variant,19.84,\N,\N,PDZD7
200318,10:102775563:C>T,NM_001195263.1:c.1579G>A,NP_001182192.1:p.Glu527Lys,11/17,\N,Unknown significance,\N,missense_variant,22.4,0.00255609,EXAC_SAS_AF,PDZD7
200319,10:102775566:G>A,NM_001195263.1:c.1576C>T,NP_001182192.1:p.Gln526Ter,11/17,\N,Pathogenic,Hearing loss| non-syndromic| autosomal recessive,stop_gained&splice_region_variant,20.1,\N,\N,PDZD7
200320,10:102775567:G>A,NM_001195263.1:c.1575C>T,NP_001182192.1:p.Asp525=,11/17,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,19.81,0.000143968,EXAC_SAS_AF,PDZD7
200321,10:102775592:G>T,NM_001195263.1:c.1574-24C>A,\N,\N,10/16,Unknown significance,\N,intron_variant,9.041,0.001,1KG_SAS_AF,PDZD7
200322,10:102775623:G>T,NM_001195263.1:c.1574-55C>A,\N,\N,10/16,Unknown significance,\N,intron_variant,1.658,\N,\N,PDZD7
200323,10:102775625:C>T,NM_001195263.1:c.1574-57G>A,\N,\N,10/16,Unknown significance,\N,intron_variant,6.226,\N,\N,PDZD7
200324,10:102775681:T>C,NM_001195263.1:c.1574-113A>G,\N,\N,10/16,Unknown significance,\N,intron_variant,3.615,\N,\N,PDZD7
200325,10:102775716:G>A,NM_001195263.1:c.1574-148C>T,\N,\N,10/16,Benign,\N,intron_variant,4.997,0.1339,1KG_AFR_AF,PDZD7
200326,10:102775728:A>G,NM_001195263.1:c.1574-160T>C,\N,\N,10/16,Unknown significance,\N,intron_variant,2.318,0.0014,1KG_AMR_AF,PDZD7
200327,10:102775762:C>T,NM_001195263.1:c.1574-194G>A,\N,\N,10/16,Unknown significance,\N,intron_variant,6.053,\N,\N,PDZD7
200328,10:102775783:A>C,NM_001195263.1:c.1574-215T>G,\N,\N,10/16,Unknown significance,\N,intron_variant,1.271,0.001,1KG_EUR_AF,PDZD7
200329,10:102775789:G>A,NM_001195263.1:c.1574-221C>T,\N,\N,10/16,Unknown significance,\N,intron_variant,1.226,0.0014,1KG_AMR_AF,PDZD7
200330,10:102775796:C>A,NM_001195263.1:c.1574-228G>T,\N,\N,10/16,Unknown significance,\N,intron_variant,8.742,\N,\N,PDZD7
200331,10:102775810:G>T,NM_001195263.1:c.1574-242C>A,\N,\N,10/16,Unknown significance,\N,intron_variant,6.032,0.0015,1KG_AFR_AF,PDZD7
200332,10:102775811:G>A,NM_001195263.1:c.1574-243C>T,\N,\N,10/16,Unknown significance,\N,intron_variant,5.851,\N,\N,PDZD7
200333,10:102775812:C>T,NM_001195263.1:c.1574-244G>A,\N,\N,10/16,Unknown significance,\N,intron_variant,8.561,0.0015,1KG_AFR_AF,PDZD7
200334,10:102775813:C>A,NM_001195263.1:c.1574-245G>T,\N,\N,10/16,Unknown significance,\N,intron_variant,9.22,0.0023,1KG_AFR_AF,PDZD7
200335,10:102775813:C>T,NM_001195263.1:c.1574-245G>A,\N,\N,10/16,Unknown significance,\N,intron_variant,9.145,\N,\N,PDZD7
200336,10:102775844:T>G,NM_001195263.1:c.1574-276A>C,\N,\N,10/16,Unknown significance,\N,intron_variant,6.82,0.001,1KG_EAS_AF,PDZD7
200337,10:102775863:A>T,NM_001195263.1:c.1573+271T>A,\N,\N,10/16,Unknown significance,\N,intron_variant,10.47,0.0014,1KG_AMR_AF,PDZD7
200338,10:102775882:C>G,NM_001195263.1:c.1573+252G>C,\N,\N,10/16,Unknown significance,\N,intron_variant,8.655,0.0023,1KG_AFR_AF,PDZD7
200339,10:102775917:T>C,NM_001195263.1:c.1573+217A>G,\N,\N,10/16,Unknown significance,\N,intron_variant,0.514,0.001,1KG_EAS_AF,PDZD7
200340,10:102775923:G>A,NM_001195263.1:c.1573+211C>T,\N,\N,10/16,Unknown significance,\N,intron_variant,1.838,\N,\N,PDZD7
200341,10:102775931:A>G,NM_001195263.1:c.1573+203T>C,\N,\N,10/16,Unknown significance,\N,intron_variant,2.073,0.001,1KG_EAS_AF,PDZD7
200342,10:102775969:T>C,NM_001195263.1:c.1573+165A>G,\N,\N,10/16,Unknown significance,\N,intron_variant,2.217,\N,\N,PDZD7
200343,10:102775992:A>G,NM_001195263.1:c.1573+142T>C,\N,\N,10/16,Unknown significance,\N,intron_variant,1.717,0.0008,1KG_AFR_AF,PDZD7
200344,10:102776001:A>C,NM_001195263.1:c.1573+133T>G,\N,\N,10/16,Unknown significance,\N,intron_variant,0.299,\N,\N,PDZD7
200345,10:102776022:A>G,NM_001195263.1:c.1573+112T>C,\N,\N,10/16,Unknown significance,\N,intron_variant,10.05,0.001,1KG_SAS_AF,PDZD7
200346,10:102776028:G>T,NM_001195263.1:c.1573+106C>A,\N,\N,10/16,Unknown significance,\N,intron_variant,6.305,\N,\N,PDZD7
200347,10:102776033:T>G,NM_001195263.1:c.1573+101A>C,\N,\N,10/16,Unknown significance,\N,intron_variant,2.13,0.001,1KG_SAS_AF,PDZD7
200348,10:102776045:G>T,NM_001195263.1:c.1573+89C>A,\N,\N,10/16,Benign,\N,intron_variant,2.102,0.0083,1KG_AFR_AF,PDZD7
200349,10:102776076:C>T,NM_001195263.1:c.1573+58G>A,\N,\N,10/16,Benign,\N,intron_variant,6.97,0.0098,1KG_AFR_AF,PDZD7
200350,10:102776089:C>T,NM_001195263.1:c.1573+45G>A,\N,\N,10/16,Unknown significance,\N,intron_variant,3.114,\N,\N,PDZD7
200351,10:102776090:G>A,NM_001195263.1:c.1573+44C>T,\N,\N,10/16,Unknown significance,\N,intron_variant,0.602,0.000208681,EXAC_NFE_AF,PDZD7
200352,10:102776095:A>T,NM_001195263.1:c.1573+39T>A,\N,\N,10/16,Unknown significance,\N,intron_variant,7.208,0.0025,EXAC_EAS_AF,PDZD7
200353,10:102776110:T>C,NM_001195263.1:c.1573+24A>G,\N,\N,10/16,Unknown significance,\N,intron_variant,9.104,\N,\N,PDZD7
200354,10:102776132:A>T,NM_001195263.1:c.1573+2T>A,\N,\N,10/16,Unknown significance,\N,splice_donor_variant,19.1,\N,\N,PDZD7
200355,10:102776142:A>C,NM_001195263.1:c.1565T>G,NP_001182192.1:p.Leu522Arg,10/17,\N,Unknown significance,\N,missense_variant,19.86,\N,\N,PDZD7
200356,10:102776144:T>C,NM_001195263.1:c.1563A>G,NP_001182192.1:p.Arg521=,10/17,\N,Unknown significance,\N,synonymous_variant,19.93,0.00125,EXAC_AFR_AF,PDZD7
200357,10:102776169:G>A,NM_001195263.1:c.1538C>T,NP_001182192.1:p.Pro513Leu,10/17,\N,Benign,\N,missense_variant,9.113,0.00595238,EXAC_OTH_AF,PDZD7
200358,10:102776176:C>T,NM_001195263.1:c.1531G>A,NP_001182192.1:p.Val511Met,10/17,\N,Unknown significance,\N,missense_variant,8.612,0.001,1KG_EUR_AF,PDZD7
200359,10:102776177:G>A,NM_001195263.1:c.1530C>T,NP_001182192.1:p.Gly510=,10/17,\N,Unknown significance,\N,synonymous_variant,13.05,0.000131027,EXAC_SAS_AF,PDZD7
200360,10:102776178:C>T,NM_001195263.1:c.1529G>A,NP_001182192.1:p.Gly510Asp,10/17,\N,Unknown significance,\N,missense_variant,15.94,0.001,1KG_EAS_AF,PDZD7
200361,10:102776214:G>A,NM_001195263.1:c.1523-30C>T,\N,\N,9/16,Unknown significance,\N,intron_variant,9.049,\N,\N,PDZD7
200362,10:102776219:G>T,NM_001195263.1:c.1523-35C>A,\N,\N,9/16,Unknown significance,\N,intron_variant,6.657,0.0045045,EXAC_EAS_AF,PDZD7
200363,10:102776220:GC>G,NM_001195263.1:c.1523-37del,\N,\N,9/16,Unknown significance,\N,intron_variant,7.744,0.000525486,EXAC_SAS_AF,PDZD7
200364,10:102776274:A>G,NM_001195263.1:c.1523-90T>C,\N,\N,9/16,Unknown significance,\N,intron_variant,10.16,\N,\N,PDZD7
200365,10:102776303:G>A,NM_001195263.1:c.1523-119C>T,\N,\N,9/16,Unknown significance,\N,intron_variant,3.845,0.0031,1KG_SAS_AF,PDZD7
200366,10:102776360:C>T,NM_001195263.1:c.1523-176G>A,\N,\N,9/16,Benign,\N,intron_variant,4.887,0.0358,1KG_SAS_AF,PDZD7
200367,10:102776364:G>A,NM_001195263.1:c.1523-180C>T,\N,\N,9/16,Unknown significance,\N,intron_variant,4.406,\N,\N,PDZD7
200368,10:102776368:A>G,NM_001195263.1:c.1523-184T>C,\N,\N,9/16,Benign,\N,intron_variant,1.741,0.0908,1KG_AMR_AF,PDZD7
200369,10:102776382:C>T,NM_001195263.1:c.1523-198G>A,\N,\N,9/16,Unknown significance,\N,intron_variant,4.179,\N,\N,PDZD7
200370,10:102776383:G>A,NM_001195263.1:c.1523-199C>T,\N,\N,9/16,Unknown significance,\N,intron_variant,3.677,0.001,1KG_EUR_AF,PDZD7
200371,10:102776398:C>G,NM_001195263.1:c.1523-214G>C,\N,\N,9/16,Benign,\N,intron_variant,1.86,0.671,1KG_AFR_AF,PDZD7
200372,10:102776402:G>T,NM_001195263.1:c.1523-218C>A,\N,\N,9/16,Unknown significance,\N,intron_variant,1.792,0.0015,1KG_AFR_AF,PDZD7
200373,10:102776461:C>T,NM_001195263.1:c.1523-277G>A,\N,\N,9/16,Unknown significance,\N,intron_variant,13.73,\N,\N,PDZD7
200374,10:102776478:G>A,NM_001195263.1:c.1523-294C>T,\N,\N,9/16,Unknown significance,\N,intron_variant,1.198,\N,\N,PDZD7
200375,10:102776497:G>A,NM_001195263.1:c.1523-313C>T,\N,\N,9/16,Unknown significance,\N,intron_variant,4.406,\N,\N,PDZD7
200376,10:102776498:G>A,NM_001195263.1:c.1523-314C>T,\N,\N,9/16,Unknown significance,\N,intron_variant,5.411,0.002,1KG_SAS_AF,PDZD7
200377,10:102776533:T>C,NM_001195263.1:c.1523-349A>G,\N,\N,9/16,Unknown significance,\N,intron_variant,2.641,0.0008,1KG_AFR_AF,PDZD7
200378,10:102776551:G>A,NM_001195263.1:c.1523-367C>T,\N,\N,9/16,Unknown significance,\N,intron_variant,8.901,0.001,1KG_EUR_AF,PDZD7
200379,10:102776607:A>C,NM_001195263.1:c.1523-423T>G,\N,\N,9/16,Unknown significance,\N,intron_variant,0.956,0.001,1KG_EUR_AF,PDZD7
200380,10:102776612:C>T,NM_001195263.1:c.1523-428G>A,\N,\N,9/16,Unknown significance,\N,intron_variant,0.644,0.001,1KG_EAS_AF,PDZD7
200381,10:102776613:G>A,NM_001195263.1:c.1523-429C>T,\N,\N,9/16,Unknown significance,\N,intron_variant,2.385,0.0008,1KG_AFR_AF,PDZD7
200382,10:102776616:GAGGGGCC>G,NM_001195263.1:c.1523-439_1523-433del,\N,\N,9/16,Unknown significance,\N,intron_variant,\N,\N,\N,PDZD7
200383,10:102776627:C>T,NM_001195263.1:c.1523-443G>A,\N,\N,9/16,Unknown significance,\N,intron_variant,6.004,0.0014,1KG_AMR_AF,PDZD7
200384,10:102776631:C>G,NM_001195263.1:c.1523-447G>C,\N,\N,9/16,Unknown significance,\N,intron_variant,2.096,0.0038,1KG_AFR_AF,PDZD7
200385,10:102776648:G>C,NM_001195263.1:c.1523-464C>G,\N,\N,9/16,Unknown significance,\N,intron_variant,0.029,\N,\N,PDZD7
200386,10:102776658:T>C,NM_001195263.1:c.1523-474A>G,\N,\N,9/16,Unknown significance,\N,intron_variant,6.305,0.0008,1KG_AFR_AF,PDZD7
200387,10:102776673:G>C,NM_001195263.1:c.1523-489C>G,\N,\N,9/16,Unknown significance,\N,intron_variant,4.581,0.001,1KG_SAS_AF,PDZD7
200388,10:102776724:C>A,NM_001195263.1:c.1523-540G>T,\N,\N,9/16,Unknown significance,\N,intron_variant,11.21,0.0031,1KG_SAS_AF,PDZD7
200389,10:102776757:C>A,NM_001195263.1:c.1523-573G>T,\N,\N,9/16,Unknown significance,\N,intron_variant,6.707,0.001,1KG_EAS_AF,PDZD7
200390,10:102776773:C>T,NM_001195263.1:c.1523-589G>A,\N,\N,9/16,Unknown significance,\N,intron_variant,7.837,\N,\N,PDZD7
200391,10:102776818:C>T,NM_001195263.1:c.1523-634G>A,\N,\N,9/16,Unknown significance,\N,intron_variant,7.291,0.002,1KG_EUR_AF,PDZD7
200392,10:102776819:G>A,NM_001195263.1:c.1523-635C>T,\N,\N,9/16,Benign,\N,intron_variant,4.635,0.1649,1KG_AFR_AF,PDZD7
200393,10:102776821:G>A,NM_001195263.1:c.1523-637C>T,\N,\N,9/16,Unknown significance,\N,intron_variant,5.07,0.0045,1KG_AFR_AF,PDZD7
200394,10:102776831:G>A,NM_001195263.1:c.1523-647C>T,\N,\N,9/16,Benign,\N,intron_variant,3.651,0.0159,1KG_AFR_AF,PDZD7
200395,10:102776832:T>G,NM_001195263.1:c.1523-648A>C,\N,\N,9/16,Unknown significance,\N,intron_variant,7.879,\N,\N,PDZD7
200396,10:102776841:G>C,NM_001195263.1:c.1523-657C>G,\N,\N,9/16,Benign,\N,intron_variant,2.246,0.0838,1KG_SAS_AF,PDZD7
200397,10:102776844:C>A,NM_001195263.1:c.1523-660G>T,\N,\N,9/16,Unknown significance,\N,intron_variant,6.163,0.001,1KG_EUR_AF,PDZD7
200398,10:102776857:C>A,NM_001195263.1:c.1523-673G>T,\N,\N,9/16,Unknown significance,\N,intron_variant,3.321,\N,\N,PDZD7
200399,10:102776864:A>T,NM_001195263.1:c.1523-680T>A,\N,\N,9/16,Benign,\N,intron_variant,5.35,0.0317,1KG_SAS_AF,PDZD7
200400,10:102776870:C>T,NM_001195263.1:c.1523-686G>A,\N,\N,9/16,Benign,\N,intron_variant,5.36,0.8578,1KG_AFR_AF,PDZD7
200401,10:102776882:C>T,NM_001195263.1:c.1523-698G>A,\N,\N,9/16,Unknown significance,\N,intron_variant,0.296,\N,\N,PDZD7
200402,10:102777054:A>T,NM_001195263.1:c.1522+802T>A,\N,\N,9/16,Unknown significance,\N,intron_variant,4.295,\N,\N,PDZD7
200403,10:102777131:C>T,NM_001195263.1:c.1522+725G>A,\N,\N,9/16,Unknown significance,\N,intron_variant,0.516,0.0008,1KG_AFR_AF,PDZD7
200404,10:102777132:G>A,NM_001195263.1:c.1522+724C>T,\N,\N,9/16,Unknown significance,\N,intron_variant,5.373,\N,\N,PDZD7
200405,10:102777133:T>G,NM_001195263.1:c.1522+723A>C,\N,\N,9/16,Unknown significance,\N,intron_variant,4.735,0.001,1KG_EUR_AF,PDZD7
200406,10:102777151:CT>C,NM_001195263.1:c.1522+704del,\N,\N,9/16,Benign,\N,intron_variant,2.897,0.6694,1KG_AFR_AF,PDZD7
200407,10:102777168:G>C,NM_001195263.1:c.1522+688C>G,\N,\N,9/16,Unknown significance,\N,intron_variant,0.625,0.001,1KG_EAS_AF,PDZD7
200408,10:102777191:C>T,NM_001195263.1:c.1522+665G>A,\N,\N,9/16,Unknown significance,\N,intron_variant,2.629,0.001,1KG_EAS_AF,PDZD7
200409,10:102777275:C>T,NM_001195263.1:c.1522+581G>A,\N,\N,9/16,Unknown significance,\N,intron_variant,1.008,0.001,1KG_EAS_AF,PDZD7
200410,10:102777278:G>A,NM_001195263.1:c.1522+578C>T,\N,\N,9/16,Unknown significance,\N,intron_variant,0.733,0.0023,1KG_AFR_AF,PDZD7
200411,10:102777309:C>T,NM_001195263.1:c.1522+547G>A,\N,\N,9/16,Benign,\N,intron_variant,0.867,0.0485396,EXAC_SAS_AF,PDZD7
200412,10:102777310:G>A,NM_001195263.1:c.1522+546C>T,\N,\N,9/16,Unknown significance,\N,intron_variant,1.953,0.000138543,EXAC_SAS_AF,PDZD7
200413,10:102777327:C>G,NM_001195263.1:c.1522+529G>C,\N,\N,9/16,Unknown significance,\N,intron_variant,1.735,0.0014,1KG_AMR_AF,PDZD7
200414,10:102777386:C>CA,NM_001195263.1:c.1522+469dup,\N,\N,9/16,Unknown significance,\N,intron_variant,1.706,\N,\N,PDZD7
200415,10:102777393:A>G,NM_001195263.1:c.1522+463T>C,\N,\N,9/16,Unknown significance,\N,intron_variant,3.734,0.000138466,EXAC_SAS_AF,PDZD7
200416,10:102777404:A>C,NM_001195263.1:c.1522+452T>G,\N,\N,9/16,Benign,\N,intron_variant,1.374,0.0157895,EXAC_AFR_AF,PDZD7
200417,10:102777427:C>G,NM_001195263.1:c.1522+429G>C,\N,\N,9/16,Benign,\N,intron_variant,3.441,0.0051,1KG_SAS_AF,PDZD7
200418,10:102777434:T>A,NM_001195263.1:c.1522+422A>T,\N,\N,9/16,Unknown significance,\N,intron_variant,7.773,\N,\N,PDZD7
200419,10:102777436:G>A,NM_001195263.1:c.1522+420C>T,\N,\N,9/16,Unknown significance,\N,intron_variant,7.22,\N,\N,PDZD7
200420,10:102777440:G>A,NM_001195263.1:c.1522+416C>T,\N,\N,9/16,Unknown significance,\N,intron_variant,7.537,\N,\N,PDZD7
200421,10:102777443:T>A,NM_001195263.1:c.1522+413A>T,\N,\N,9/16,Unknown significance,\N,intron_variant,9.463,\N,\N,PDZD7
200422,10:102777448:T>A,NM_001195263.1:c.1522+408A>T,\N,\N,9/16,Unknown significance,\N,intron_variant,8.157,\N,\N,PDZD7
200423,10:102777457:C>A,NM_001195263.1:c.1522+399G>T,\N,\N,9/16,Unknown significance,\N,intron_variant,3.448,\N,\N,PDZD7
200424,10:102777457:C>T,NM_001195263.1:c.1522+399G>A,\N,\N,9/16,Unknown significance,\N,intron_variant,2.439,\N,\N,PDZD7
200425,10:102777461:T>C,NM_001195263.1:c.1522+395A>G,\N,\N,9/16,Benign,\N,intron_variant,1.726,0.8064,1KG_AFR_AF,PDZD7
200426,10:102777463:A>G,NM_001195263.1:c.1522+393T>C,\N,\N,9/16,Unknown significance,\N,intron_variant,1.854,\N,\N,PDZD7
200427,10:102777465:C>A,NM_001195263.1:c.1522+391G>T,\N,\N,9/16,Unknown significance,\N,intron_variant,0.334,\N,\N,PDZD7
200428,10:102777465:C>T,NM_001195263.1:c.1522+391G>A,\N,\N,9/16,Unknown significance,\N,intron_variant,0.198,0.004,1KG_EUR_AF,PDZD7
200429,10:102777466:G>A,NM_001195263.1:c.1522+390C>T,\N,\N,9/16,Unknown significance,\N,intron_variant,0.19,\N,\N,PDZD7
200430,10:102777466:G>T,NM_001195263.1:c.1522+390C>A,\N,\N,9/16,Unknown significance,\N,intron_variant,0.06,\N,\N,PDZD7
200431,10:102777472:G>C,NM_001195263.1:c.1522+384C>G,\N,\N,9/16,Unknown significance,\N,intron_variant,0.082,\N,\N,PDZD7
200432,10:102777475:G>A,NM_001195263.1:c.1522+381C>T,\N,\N,9/16,Benign,\N,intron_variant,1.249,0.0061,1KG_AFR_AF,PDZD7
200433,10:102777526:A>G,NM_001195263.1:c.1522+330T>C,\N,\N,9/16,Benign,\N,intron_variant,2.473,0.0098,1KG_AFR_AF,PDZD7
200434,10:102777527:G>T,NM_001195263.1:c.1522+329C>A,\N,\N,9/16,Unknown significance,\N,intron_variant,0.578,0.001,1KG_EUR_AF,PDZD7
200435,10:102777540:T>A,NM_001195263.1:c.1522+316A>T,\N,\N,9/16,Unknown significance,\N,intron_variant,3.376,0.0014,1KG_AMR_AF,PDZD7
200436,10:102777543:C>CA,NM_001195263.1:c.1522+312dup,\N,\N,9/16,Unknown significance,\N,intron_variant,2.868,\N,\N,PDZD7
200437,10:102777543:C>CAA,NM_001195263.1:c.1522+311_1522+312dup,\N,\N,9/16,Unknown significance,\N,intron_variant,2.709,\N,\N,PDZD7
200438,10:102777552:A>G,NM_001195263.1:c.1522+304T>C,\N,\N,9/16,Unknown significance,\N,intron_variant,0.697,\N,\N,PDZD7
200439,10:102777562:AAAAG>A,NM_001195263.1:c.1522+290_1522+293del,\N,\N,9/16,Unknown significance,\N,intron_variant,\N,\N,\N,PDZD7
200440,10:102777580:AAAGG>A,NM_001195263.1:c.1522+272_1522+275del,\N,\N,9/16,Unknown significance,\N,intron_variant,0.16,\N,\N,PDZD7
200441,10:102777581:A>G,NM_001195263.1:c.1522+275T>C,\N,\N,9/16,Unknown significance,\N,intron_variant,1.235,\N,\N,PDZD7
200442,10:102777588:G>A,NM_001195263.1:c.1522+268C>T,\N,\N,9/16,Unknown significance,\N,intron_variant,1.179,\N,\N,PDZD7
200443,10:102777590:A>AGG,NM_001195263.1:c.1522+264_1522+265dup,\N,\N,9/16,Unknown significance,\N,intron_variant,\N,\N,\N,PDZD7
200444,10:102777590:AGG>A,NM_001195263.1:c.1522+264_1522+265del,\N,\N,9/16,Unknown significance,\N,intron_variant,0.206,\N,\N,PDZD7
200445,10:102777590:AGGAAGG>A,NM_001195263.1:c.1522+260_1522+265del,\N,\N,9/16,Unknown significance,\N,intron_variant,0.1,\N,\N,PDZD7
200446,10:102777590:AGGAAGGAAAG>A,NM_001195263.1:c.1522+256_1522+265del,\N,\N,9/16,Unknown significance,\N,intron_variant,\N,\N,\N,PDZD7
200447,10:102777590:AGGAAGGAAAGAAAGAAAGAAAGAAAG>A,NM_001195263.1:c.1522+240_1522+265del,\N,\N,9/16,Unknown significance,\N,intron_variant,0.018,\N,\N,PDZD7
200448,10:102777591:G>A,NM_001195263.1:c.1522+265C>T,\N,\N,9/16,Unknown significance,\N,intron_variant,1.688,\N,\N,PDZD7
200449,10:102777595:G>A,NM_001195263.1:c.1522+261C>T,\N,\N,9/16,Unknown significance,\N,intron_variant,1.705,\N,\N,PDZD7
200450,10:102777603:A>AG,NM_001195263.1:c.1522+252dup,\N,\N,9/16,Unknown significance,\N,intron_variant,0.044,\N,\N,PDZD7
200451,10:102777607:A>AG,NM_001195263.1:c.1522+248dup,\N,\N,9/16,Unknown significance,\N,intron_variant,0.039,\N,\N,PDZD7
200452,10:102777608:G>GA,NM_001195263.1:c.1522+247dup,\N,\N,9/16,Unknown significance,\N,intron_variant,0.204,\N,\N,PDZD7
200453,10:102777612:G>GA,NM_001195263.1:c.1522+243dup,\N,\N,9/16,Unknown significance,\N,intron_variant,0.179,\N,\N,PDZD7
200454,10:102777615:A>AG,NM_001195263.1:c.1522+240dup,\N,\N,9/16,Unknown significance,\N,intron_variant,0.033,\N,\N,PDZD7
200455,10:102777619:A>AG,NM_001195263.1:c.1522+236dup,\N,\N,9/16,Unknown significance,\N,intron_variant,0.037,\N,\N,PDZD7
200456,10:102777620:G>GA,NM_001195263.1:c.1522+235dup,\N,\N,9/16,Unknown significance,\N,intron_variant,0.241,\N,\N,PDZD7
200457,10:102777623:A>AG,NM_001195263.1:c.1522+232dup,\N,\N,9/16,Unknown significance,\N,intron_variant,0.059,\N,\N,PDZD7
200458,10:102777627:A>AG,NM_001195263.1:c.1522+228dup,\N,\N,9/16,Unknown significance,\N,intron_variant,0.085,\N,\N,PDZD7
200459,10:102777629:AAAG>A,NM_001195263.1:c.1522+224_1522+226del,\N,\N,9/16,Unknown significance,\N,intron_variant,0.479,\N,\N,PDZD7
200460,10:102777634:A>C,NM_001195263.1:c.1522+222T>G,\N,\N,9/16,Unknown significance,\N,intron_variant,1.09,0.001,1KG_SAS_AF,PDZD7
200461,10:102777636:G>A,NM_001195263.1:c.1522+220C>T,\N,\N,9/16,Unknown significance,\N,intron_variant,2.033,\N,\N,PDZD7
200462,10:102777640:G>GA,NM_001195263.1:c.1522+215dup,\N,\N,9/16,Unknown significance,\N,intron_variant,0.75,\N,\N,PDZD7
200463,10:102777640:GAAAGAAAGA>G,NM_001195263.1:c.1522+207_1522+215del,\N,\N,9/16,Unknown significance,\N,intron_variant,0.333,\N,\N,PDZD7
200464,10:102777644:GAAAGA>G,NM_001195263.1:c.1522+207_1522+211del,\N,\N,9/16,Unknown significance,\N,intron_variant,0.43,\N,\N,PDZD7
200465,10:102777647:AG>A,NM_001195263.1:c.1522+208del,\N,\N,9/16,Unknown significance,\N,intron_variant,0.53,\N,\N,PDZD7
200466,10:102777648:G>T,NM_001195263.1:c.1522+208C>A,\N,\N,9/16,Unknown significance,\N,intron_variant,0.574,\N,\N,PDZD7
200467,10:102777648:GA>G,NM_001195263.1:c.1522+207del,\N,\N,9/16,Unknown significance,\N,intron_variant,0.225,\N,\N,PDZD7
200468,10:102777649:A>AAAG,NM_001195263.1:c.1522+206_1522+207insCTT,\N,\N,9/16,Unknown significance,\N,intron_variant,\N,\N,\N,PDZD7
200469,10:102777649:A>AAAGAAAGAAAGAAAGAAAGAAAG,NM_001195263.1:c.1522+206_1522+207insCTTTCTTTCTTTCTTTCTTTCTT,\N,\N,9/16,Unknown significance,\N,intron_variant,0.009,\N,\N,PDZD7
200470,10:102777649:A>G,NM_001195263.1:c.1522+207T>C,\N,\N,9/16,Benign,\N,intron_variant,0.722,0.1687,1KG_AFR_AF,PDZD7
200471,10:102777652:A>G,NM_001195263.1:c.1522+204T>C,\N,\N,9/16,Unknown significance,\N,intron_variant,0.07,\N,\N,PDZD7
200472,10:102777653:G>A,NM_001195263.1:c.1522+203C>T,\N,\N,9/16,Unknown significance,\N,intron_variant,1.491,\N,\N,PDZD7
200473,10:102777665:G>T,NM_001195263.1:c.1522+191C>A,\N,\N,9/16,Unknown significance,\N,intron_variant,0.308,0.003,1KG_EUR_AF,PDZD7
200474,10:102777669:G>T,NM_001195263.1:c.1522+187C>A,\N,\N,9/16,Benign,\N,intron_variant,0.288,0.4016,1KG_EUR_AF,PDZD7
200475,10:102777669:GA>G,NM_001195263.1:c.1522+186del,\N,\N,9/16,Unknown significance,\N,intron_variant,0.127,\N,\N,PDZD7
200476,10:102777670:A>AAAG,NM_001195263.1:c.1522+185_1522+186insCTT,\N,\N,9/16,Unknown significance,\N,intron_variant,\N,\N,\N,PDZD7
200477,10:102777670:A>G,NM_001195263.1:c.1522+186T>C,\N,\N,9/16,Unknown significance,\N,intron_variant,0.42,\N,\N,PDZD7
200478,10:102777673:A>G,NM_001195263.1:c.1522+183T>C,\N,\N,9/16,Unknown significance,\N,intron_variant,0.057,0.0015,1KG_AFR_AF,PDZD7
200479,10:102777674:G>A,NM_001195263.1:c.1522+182C>T,\N,\N,9/16,Unknown significance,\N,intron_variant,0.133,0.0015,1KG_AFR_AF,PDZD7
200480,10:102777681:A>G,NM_001195263.1:c.1522+175T>C,\N,\N,9/16,Unknown significance,\N,intron_variant,0.696,0.0008,1KG_AFR_AF,PDZD7
200481,10:102777698:T>C,NM_001195263.1:c.1522+158A>G,\N,\N,9/16,Unknown significance,\N,intron_variant,1.303,0.001,1KG_EAS_AF,PDZD7
200482,10:102777748:T>C,NM_001195263.1:c.1522+108A>G,\N,\N,9/16,Unknown significance,\N,intron_variant,2.017,0.001,1KG_SAS_AF,PDZD7
200483,10:102777768:C>G,NM_001195263.1:c.1522+88G>C,\N,\N,9/16,Benign,\N,intron_variant,0.905,0.8056,1KG_AFR_AF,PDZD7
200484,10:102777782:T>C,NM_001195263.1:c.1522+74A>G,\N,\N,9/16,Unknown significance,\N,intron_variant,5.381,\N,\N,PDZD7
200485,10:102777813:T>A,NM_001195263.1:c.1522+43A>T,\N,\N,9/16,Unknown significance,\N,intron_variant,6.678,0.0000149835,EXAC_NFE_AF,PDZD7
200486,10:102777818:T>C,NM_001195263.1:c.1522+38A>G,\N,\N,9/16,Unknown significance,\N,intron_variant,2.378,0.0008,1KG_AFR_AF,PDZD7
200487,10:102777823:T>C,NM_001195263.1:c.1522+33A>G,\N,\N,9/16,Unknown significance,\N,intron_variant,6.277,0.0000960984,EXAC_AFR_AF,PDZD7
200488,10:102777825:T>C,NM_001195263.1:c.1522+31A>G,\N,\N,9/16,Unknown significance,\N,intron_variant,3.563,0.000060562,EXAC_SAS_AF,PDZD7
200489,10:102777827:C>T,NM_001195263.1:c.1522+29G>A,\N,\N,9/16,Unknown significance,\N,intron_variant,2.809,0.0000299679,EXAC_NFE_AF,PDZD7
200490,10:102777834:G>A,NM_001195263.1:c.1522+22C>T,\N,\N,9/16,Unknown significance,\N,intron_variant,6.756,0.000060562,EXAC_SAS_AF,PDZD7
200491,10:102777837:T>C,NM_001195263.1:c.1522+19A>G,\N,\N,9/16,Unknown significance,\N,intron_variant,5.44,0.000116279,EVS_EA_AF,PDZD7
200492,10:102777858:T>C,NM_001195263.1:c.1520A>G,NP_001182192.1:p.Lys507Arg,9/17,\N,Likely benign,\N,missense_variant&splice_region_variant,20.4,0.000115554,EXAC_EAS_AF,PDZD7
200493,10:102777862:C>G,NM_024895.4:c.1516G>C,NP_079171.1:p.Glu506Gln,9/10,\N,Unknown significance,\N,missense_variant,23.1,0.000014984,EXAC_NFE_AF,PDZD7
200494,10:102777870:A>G,NM_001195263.1:c.1508T>C,NP_001182192.1:p.Leu503Pro,9/17,\N,Unknown significance,\N,missense_variant,9.476,0.0000960984,EXAC_AFR_AF,PDZD7
200495,10:102777873:C>A,NM_001195263.1:c.1505G>T,NP_001182192.1:p.Arg502Leu,9/17,\N,Likely benign,\N,missense_variant,16.09,0.000014984,EXAC_NFE_AF,PDZD7
200496,10:102777873:C>T,NM_001195263.1:c.1505G>A,NP_001182192.1:p.Arg502His,9/17,\N,Likely benign,\N,missense_variant,5.239,0.000014984,EXAC_NFE_AF,PDZD7
200497,10:102777876:G>A,NM_001195263.1:c.1502C>T,NP_001182192.1:p.Pro501Leu,9/17,\N,Unknown significance,\N,missense_variant,21.9,0.000014984,EXAC_NFE_AF,PDZD7
200498,10:102777878:G>T,NM_001195263.1:c.1500C>A,NP_001182192.1:p.Tyr500Ter,9/17,\N,Pathogenic,Hearing loss| non-syndromic| autosomal recessive,stop_gained,36,\N,\N,PDZD7
200499,10:102777883:T>A,NM_001195263.1:c.1495A>T,NP_001182192.1:p.Thr499Ser,9/17,\N,Likely benign,\N,missense_variant,0.003,0.001,1KG_SAS_AF,PDZD7
200500,10:102777889:C>A,NM_001195263.1:c.1489G>T,NP_001182192.1:p.Ala497Ser,9/17,\N,Likely benign,\N,missense_variant,11.05,0.0000863707,EXAC_AMR_AF,PDZD7
200501,10:102777889:C>T,NM_001195263.1:c.1489G>A,NP_001182192.1:p.Ala497Thr,9/17,\N,Likely benign,\N,missense_variant,15.08,0.000014984,EXAC_NFE_AF,PDZD7
200502,10:102777893:G>A,NM_001195263.1:c.1485C>T,NP_001182192.1:p.Ser495=,9/17,\N,Unknown significance,\N,synonymous_variant,8.352,0.0000149844,EXAC_NFE_AF,PDZD7
200503,10:102777893:G>T,NM_001195263.1:c.1485C>A,NP_001182192.1:p.Ser495Arg,9/17,\N,Likely benign,\N,missense_variant,4.666,0.0000960984,EXAC_AFR_AF,PDZD7
200504,10:102777894:C>T,NM_001195263.1:c.1484G>A,NP_001182192.1:p.Ser495Asn,9/17,\N,Likely benign,\N,missense_variant,1.397,0.000151194,EXAC_FIN_AF,PDZD7
200505,10:102777898:C>T,NM_001195263.1:c.1480G>A,NP_001182192.1:p.Gly494Arg,9/17,\N,Likely benign,\N,missense_variant,7.142,0.000179813,EXAC_NFE_AF,PDZD7
200506,10:102777917:C>A,NM_001195263.1:c.1461G>T,NP_001182192.1:p.Glu487Asp,9/17,\N,Likely benign,\N,missense_variant,24.8,0.000924428,EXAC_EAS_AF,PDZD7
200507,10:102777923:G>GCGC,NM_001195263.1:c.1452_1454dup,NP_001182192.1:p.Arg486dup,9/17,\N,Unknown significance,\N,inframe_insertion,3.586,0.00057659,EXAC_AFR_AF,PDZD7
200508,10:102777928:C>T,NM_001195263.1:c.1450G>A,NP_001182192.1:p.Gly484Arg,9/17,\N,Likely benign,\N,missense_variant,10.08,0.0008,1KG_AFR_AF,PDZD7
200509,10:102777929:G>T,NM_024895.4:c.1449C>A,NP_079171.1:p.Asp483Glu,9/10,\N,Likely benign,\N,missense_variant,2.355,0.000181686,EXAC_SAS_AF,PDZD7
200510,10:102777931:C>T,NM_024895.4:c.1447G>A,NP_079171.1:p.Asp483Asn,9/10,\N,Benign,\N,missense_variant,19.67,0.0167953,EVS_AA_AF,PDZD7
200511,10:102777933:C>T,NM_001195263.1:c.1445G>A,NP_001182192.1:p.Arg482Gln,9/17,\N,Likely benign,\N,missense_variant,22.1,0.000172741,EXAC_AMR_AF,PDZD7
200512,10:102777934:G>T,NM_001195263.1:c.1444C>A,NP_001182192.1:p.Arg482=,9/17,\N,Unknown significance,\N,synonymous_variant,7.823,\N,\N,PDZD7
200513,10:102777936:G>C,NM_001195263.1:c.1442C>G,NP_001182192.1:p.Ala481Gly,9/17,\N,Likely benign,\N,missense_variant,16.25,\N,\N,PDZD7
200514,10:102777950:C>A,NM_001195263.1:c.1428G>T,NP_001182192.1:p.Arg476=,9/17,\N,Unknown significance,\N,synonymous_variant,10.09,0.000226963,EVS_AA_AF,PDZD7
200515,10:102777954:C>T,NM_001195263.1:c.1424G>A,NP_001182192.1:p.Gly475Glu,9/17,\N,Likely benign,\N,missense_variant,18.7,0.0014,1KG_AMR_AF,PDZD7
200516,10:102777958:C>T,NM_001195263.1:c.1420G>A,NP_001182192.1:p.Gly474Arg,9/17,\N,Unknown significance,\N,missense_variant,32,\N,\N,PDZD7
200517,10:102777960:T>A,NM_001195263.1:c.1418A>T,NP_001182192.1:p.Lys473Met,9/17,\N,Unknown significance,\N,missense_variant,29.3,0.00196441,EXAC_EAS_AF,PDZD7
200518,10:102777967:A>G,NM_001195263.1:c.1411T>C,NP_001182192.1:p.Phe471Leu,9/17,\N,Unknown significance,\N,missense_variant,16.35,0.001,1KG_EUR_AF,PDZD7
200519,10:102777978:A>G,NM_001195263.1:c.1400T>C,NP_001182192.1:p.Leu467Pro,9/17,\N,Unknown significance,\N,missense_variant,31,0.000121124,EXAC_SAS_AF,PDZD7
200520,10:102777979:G>A,NM_001195263.1:c.1399C>T,NP_001182192.1:p.Leu467=,9/17,\N,Unknown significance,\N,synonymous_variant,12.81,0.000059979,EXAC_NFE_AF,PDZD7
200521,10:102777985:T>C,NM_001195263.1:c.1393A>G,NP_001182192.1:p.Lys465Glu,9/17,\N,Unknown significance,\N,missense_variant,29,0.0000149957,EXAC_NFE_AF,PDZD7
200522,10:102777990:C>A,NM_001195263.1:c.1388G>T,NP_001182192.1:p.Arg463Leu,9/17,\N,Unknown significance,\N,missense_variant,35,\N,\N,PDZD7
200523,10:102777990:C>T,NM_001195263.1:c.1388G>A,NP_001182192.1:p.Arg463His,9/17,\N,Unknown significance,\N,missense_variant,35,0.000115554,EXAC_EAS_AF,PDZD7
200524,10:102777991:G>A,NM_001195263.1:c.1387C>T,NP_001182192.1:p.Arg463Cys,9/17,\N,Unknown significance,\N,missense_variant,34,0.0000150002,EXAC_NFE_AF,PDZD7
200525,10:102777999:G>A,NM_001195263.1:c.1379C>T,NP_001182192.1:p.Ala460Val,9/17,\N,Unknown significance,\N,missense_variant,23.3,0.0000864304,EXAC_AMR_AF,PDZD7
200526,10:102778006:T>C,NM_001195263.1:c.1372A>G,NP_001182192.1:p.Lys458Glu,9/17,\N,Likely benign,\N,missense_variant,17.93,0.0000150272,EXAC_NFE_AF,PDZD7
200527,10:102778009:C>T,NM_001195263.1:c.1369G>A,NP_001182192.1:p.Glu457Lys,9/17,\N,Likely benign,\N,missense_variant,23,0.000165433,EXAC_NFE_AF,PDZD7
200528,10:102778011:C>T,NM_001195263.1:c.1367G>A,NP_001182192.1:p.Gly456Glu,9/17,\N,Likely benign,\N,missense_variant,15.45,0.001,1KG_SAS_AF,PDZD7
200529,10:102778015:G>A,NM_001195263.1:c.1363C>T,NP_001182192.1:p.Pro455Ser,9/17,\N,Likely benign,\N,missense_variant,8.377,0.000116279,EVS_EA_AF,PDZD7
200530,10:102778016:G>A,NM_001195263.1:c.1362C>T,NP_001182192.1:p.Ser454=,9/17,\N,Unknown significance,\N,synonymous_variant,13.69,0.000348837,EVS_EA_AF,PDZD7
200531,10:102778019:C>G,NM_001195263.1:c.1359G>C,NP_001182192.1:p.Gly453=,9/17,\N,Unknown significance,\N,synonymous_variant,15.34,0.0000150575,EXAC_NFE_AF,PDZD7
200532,10:102778025:C>T,NM_001195263.1:c.1353G>A,NP_001182192.1:p.Lys451=,9/17,\N,Unknown significance,\N,synonymous_variant,19.35,0.0000864603,EXAC_AMR_AF,PDZD7
200533,10:102778027:TCTC>T,NM_001195263.1:c.1348_1350del,NP_001182192.1:p.Glu450del,9/17,\N,Benign,\N,inframe_deletion,20.6,0.00551248,EXAC_SAS_AF,PDZD7
200534,10:102778027:T>G,NM_001195263.1:c.1351A>C,NP_001182192.1:p.Lys451Gln,9/17,\N,Likely benign,\N,missense_variant,17.86,0.0000605767,EXAC_SAS_AF,PDZD7
200535,10:102778029:T>C,NM_001195263.1:c.1349A>G,NP_001182192.1:p.Glu450Gly,9/17,\N,Unknown significance,\N,missense_variant,24.2,0.0000864753,EXAC_AMR_AF,PDZD7
200536,10:102778030:C>T,NM_001195263.1:c.1348G>A,NP_001182192.1:p.Glu450Lys,9/17,\N,Likely benign,\N,missense_variant,20.6,0.0031,1KG_SAS_AF,PDZD7
200537,10:102778030:CCTT>C,NM_001195263.1:c.1345_1347del,NP_001182192.1:p.Lys449del,9/17,\N,Unknown significance,\N,inframe_deletion,20.7,0.00161812,EXAC_EAS_AF,PDZD7
200538,10:102778033:T>C,NM_024895.4:c.1345A>G,NP_079171.1:p.Lys449Glu,9/10,\N,Likely benign,\N,missense_variant,22,0.000172921,EXAC_AMR_AF,PDZD7
200539,10:102778035:TTCCGCTGCTGCTTCTCC>T,NM_001195263.1:c.1326_1342del,NP_001182192.1:p.Lys444GlyfsTer76,9/17,\N,Unknown significance,\N,frameshift_variant&splice_region_variant,35,\N,\N,PDZD7
200540,10:102778038:C>T,NM_001195263.1:c.1340G>A,NP_001182192.1:p.Arg447Gln,9/17,\N,Likely benign,\N,missense_variant,24.4,\N,\N,PDZD7
200541,10:102778057:C>T,NM_001195263.1:c.1325-4G>A,\N,\N,8/16,Unknown significance,\N,splice_region_variant&intron_variant,12.79,\N,\N,PDZD7
200542,10:102778061:C>CA,NM_001195263.1:c.1325-9dup,\N,\N,8/16,Unknown significance,\N,intron_variant,12.97,\N,\N,PDZD7
200543,10:102778063:C>G,NM_001195263.1:c.1325-10G>C,\N,\N,8/16,Unknown significance,\N,intron_variant,6.433,0.000086881,EXAC_AMR_AF,PDZD7
200544,10:102778063:C>T,NM_001195263.1:c.1325-10G>A,\N,\N,8/16,Unknown significance,\N,intron_variant,8.179,0.0000153657,EXAC_NFE_AF,PDZD7
200545,10:102778064:GA>G,NM_001195263.1:c.1325-12del,\N,\N,8/16,Unknown significance,\N,intron_variant,8.773,0.0000607533,EXAC_SAS_AF,PDZD7
200546,10:102778064:G>A,NM_001195263.1:c.1325-11C>T,\N,\N,8/16,Unknown significance,\N,intron_variant,11.66,0.000103477,EXAC_AFR_AF,PDZD7
200547,10:102778071:C>G,NM_001195263.1:c.1325-18G>C,\N,\N,8/16,Unknown significance,\N,intron_variant,9.668,0.0014,1KG_AMR_AF,PDZD7
200548,10:102778074:C>A,NM_001195263.1:c.1325-21G>T,\N,\N,8/16,Unknown significance,\N,intron_variant,9.829,\N,\N,PDZD7
200549,10:102778078:G>A,NM_001195263.1:c.1325-25C>T,\N,\N,8/16,Unknown significance,\N,intron_variant,8.648,0.000116333,EXAC_EAS_AF,PDZD7
200550,10:102778102:G>A,NM_001195263.1:c.1325-49C>T,\N,\N,8/16,Unknown significance,\N,intron_variant,7.282,0.0000158323,EXAC_NFE_AF,PDZD7
200551,10:102778105:G>C,NM_001195263.1:c.1325-52C>G,\N,\N,8/16,Unknown significance,\N,intron_variant,8.728,0.0008,1KG_AFR_AF,PDZD7
200552,10:102778136:A>G,NM_001195263.1:c.1325-83T>C,\N,\N,8/16,Unknown significance,\N,intron_variant,14.02,0.001,1KG_EAS_AF,PDZD7
200553,10:102778137:G>A,NM_001195263.1:c.1325-84C>T,\N,\N,8/16,Benign,\N,intron_variant,13.65,0.0873,1KG_EAS_AF,PDZD7
200554,10:102778143:G>A,NM_001195263.1:c.1325-90C>T,\N,\N,8/16,Unknown significance,\N,intron_variant,16.19,0.0008,1KG_AFR_AF,PDZD7
200555,10:102778156:C>T,NM_001195263.1:c.1325-103G>A,\N,\N,8/16,Unknown significance,\N,intron_variant,16.22,0.001,1KG_EAS_AF,PDZD7
200556,10:102778191:C>T,NM_001195263.1:c.1325-138G>A,\N,\N,8/16,Unknown significance,\N,intron_variant,8.042,0.0008,1KG_AFR_AF,PDZD7
200557,10:102778192:G>C,NM_001195263.1:c.1325-139C>G,\N,\N,8/16,Unknown significance,\N,intron_variant,4.77,0.001,1KG_EAS_AF,PDZD7
200558,10:102778222:C>T,NM_001195263.1:c.1325-169G>A,\N,\N,8/16,Unknown significance,\N,intron_variant,7.924,0.0008,1KG_AFR_AF,PDZD7
200559,10:102778241:T>C,NM_001195263.1:c.1325-188A>G,\N,\N,8/16,Benign,\N,intron_variant,7.483,0.0051,1KG_SAS_AF,PDZD7
200560,10:102778279:G>A,NM_001195263.1:c.1325-226C>T,\N,\N,8/16,Unknown significance,\N,intron_variant,6.647,0.001,1KG_SAS_AF,PDZD7
200561,10:102778284:C>T,NM_001195263.1:c.1325-231G>A,\N,\N,8/16,Unknown significance,\N,intron_variant,7.874,0.0038,1KG_AFR_AF,PDZD7
200562,10:102778320:T>C,NM_001195263.1:c.1324+259A>G,\N,\N,8/16,Unknown significance,\N,intron_variant,2.11,\N,\N,PDZD7
200563,10:102778368:G>C,NM_001195263.1:c.1324+211C>G,\N,\N,8/16,Unknown significance,\N,intron_variant,7.11,\N,\N,PDZD7
200564,10:102778417:A>G,NM_001195263.1:c.1324+162T>C,\N,\N,8/16,Unknown significance,\N,intron_variant,4.379,\N,\N,PDZD7
200565,10:102778455:T>C,NM_001195263.1:c.1324+124A>G,\N,\N,8/16,Unknown significance,\N,intron_variant,4.974,\N,\N,PDZD7
200566,10:102778459:G>T,NM_001195263.1:c.1324+120C>A,\N,\N,8/16,Unknown significance,\N,intron_variant,2.228,\N,\N,PDZD7
200567,10:102778475:G>T,NM_001195263.1:c.1324+104C>A,\N,\N,8/16,Unknown significance,\N,intron_variant,9.323,\N,\N,PDZD7
200568,10:102778536:C>A,NM_001195263.1:c.1324+43G>T,\N,\N,8/16,Unknown significance,\N,intron_variant,12.58,\N,\N,PDZD7
200569,10:102778538:G>C,NM_001195263.1:c.1324+41C>G,\N,\N,8/16,Unknown significance,\N,intron_variant,9.487,\N,\N,PDZD7
200570,10:102778541:G>A,NM_001195263.1:c.1324+38C>T,\N,\N,8/16,Unknown significance,\N,intron_variant,11.12,0.000255624,EXAC_AMR_AF,PDZD7
200571,10:102778559:G>A,NM_001195263.1:c.1324+20C>T,\N,\N,8/16,Unknown significance,\N,intron_variant,13.82,0.001,1KG_EUR_AF,PDZD7
200572,10:102778567:TC>T,NM_001195263.1:c.1324+11del,\N,\N,8/16,Unknown significance,\N,intron_variant,17.17,\N,\N,PDZD7
200573,10:102778568:C>G,NM_001195263.1:c.1324+11G>C,\N,\N,8/16,Unknown significance,\N,intron_variant,15.82,0.000029329,EXAC_NFE_AF,PDZD7
200574,10:102778582:A>G,NM_001195263.1:c.1321T>C,NP_001182192.1:p.Trp441Arg,8/17,\N,Unknown significance,\N,missense_variant,19.39,0.000212044,EXAC_AMR_AF,PDZD7
200575,10:102778589:C>T,NM_001195263.1:c.1314G>A,NP_001182192.1:p.Leu438=,8/17,\N,Unknown significance,\N,synonymous_variant,14.19,0.000180505,EXAC_EAS_AF,PDZD7
200576,10:102778610:G>A,NM_001195263.1:c.1293C>T,NP_001182192.1:p.Ile431=,8/17,\N,Unknown significance,\N,synonymous_variant,10.54,0.000355872,EXAC_AFR_AF,PDZD7
200577,10:102778613:G>T,NM_001195263.1:c.1290C>A,NP_001182192.1:p.Pro430=,8/17,\N,Unknown significance,\N,synonymous_variant,4.844,0.0000970497,EXAC_SAS_AF,PDZD7
200578,10:102778614:G>A,NM_001195263.1:c.1289C>T,NP_001182192.1:p.Pro430Leu,8/17,\N,Unknown significance,\N,missense_variant,28.1,0.000183486,EXAC_EAS_AF,PDZD7
200579,10:102778618:G>A,NM_001195263.1:c.1285C>T,NP_001182192.1:p.Pro429Ser,8/17,\N,Likely benign,\N,missense_variant,19.79,0.000184911,EXAC_EAS_AF,PDZD7
200580,10:102778620:C>T,NM_001195263.1:c.1283G>A,NP_001182192.1:p.Arg428Gln,8/17,\N,Unknown significance,\N,missense_variant,35,0.000116904,EVS_EA_AF,PDZD7
200581,10:102778620:CG>C,NM_001195263.1:c.1282del,NP_001182192.1:p.Arg428GlyfsTer11,8/17,\N,Unknown significance,\N,frameshift_variant,34,0.0000942329,EXAC_SAS_AF,PDZD7
200582,10:102778636:C>T,NM_001195263.1:c.1267G>A,NP_001182192.1:p.Ala423Thr,8/17,\N,Benign,\N,missense_variant,34,0.00503543,EXAC_EAS_AF,PDZD7
200583,10:102778649:C>A,NM_001195263.1:c.1254G>T,NP_001182192.1:p.Thr418=,8/17,\N,Unknown significance,\N,synonymous_variant,17.31,0.0000895576,EXAC_SAS_AF,PDZD7
200584,10:102778652:C>A,NM_001195263.1:c.1251G>T,NP_001182192.1:p.Lys417Asn,8/17,\N,Unknown significance,\N,missense_variant,26.7,\N,\N,PDZD7
200585,10:102778653:T>C,NM_001195263.1:c.1250A>G,NP_001182192.1:p.Lys417Arg,8/17,\N,Unknown significance,\N,missense_variant,25,0.0000273373,EXAC_NFE_AF,PDZD7
200586,10:102778658:A>T,NM_001195263.1:c.1245T>A,NP_001182192.1:p.Ser415=,8/17,\N,Unknown significance,\N,synonymous_variant,0.322,\N,\N,PDZD7
200587,10:102778674:G>A,NM_001195263.1:c.1229C>T,NP_001182192.1:p.Ser410Phe,8/17,\N,Unknown significance,\N,missense_variant,14.6,0.0000295142,EXAC_NFE_AF,PDZD7
200588,10:102778686:C>T,NM_001195263.1:c.1217G>A,NP_001182192.1:p.Arg406His,8/17,\N,Likely benign,\N,missense_variant,12.32,0.0000312754,EXAC_NFE_AF,PDZD7
200589,10:102778690:C>T,NM_001195263.1:c.1213G>A,NP_001182192.1:p.Gly405Ser,8/17,\N,Likely benign,\N,missense_variant,8.161,0.0025,EXAC_OTH_AF,PDZD7
200590,10:102778692:G>A,NM_001195263.1:c.1211C>T,NP_001182192.1:p.Pro404Leu,8/17,\N,Likely benign,\N,missense_variant,3.927,0.001,1KG_SAS_AF,PDZD7
200591,10:102778698:G>A,NM_001195263.1:c.1205C>T,NP_001182192.1:p.Pro402Leu,8/17,\N,Likely benign,\N,missense_variant,11.18,0.0000934405,EXAC_SAS_AF,PDZD7
200592,10:102778700:G>C,NM_001195263.1:c.1203C>G,NP_001182192.1:p.Gly401=,8/17,\N,Unknown significance,\N,synonymous_variant,0.06,0.000068018,EXAC_NFE_AF,PDZD7
200593,10:102778723:C>G,NM_001195263.1:c.1180G>C,NP_001182192.1:p.Asp394His,8/17,\N,Unknown significance,\N,missense_variant,32,0.0000402771,EXAC_NFE_AF,PDZD7
200594,10:102778724:C>T,NM_001195263.1:c.1179G>A,NP_001182192.1:p.Arg393=,8/17,\N,Unknown significance,\N,synonymous_variant,16.85,0.000322997,EXAC_AMR_AF,PDZD7
200595,10:102778732:T>C,NM_001195263.1:c.1171A>G,NP_001182192.1:p.Ile391Val,8/17,\N,Likely benign,\N,missense_variant,10.65,0.00105559,EXAC_AMR_AF,PDZD7
200596,10:102778744:G>T,NM_001195263.1:c.1159C>A,NP_001182192.1:p.Arg387=,8/17,\N,Unknown significance,\N,synonymous_variant,14.31,0.000117123,EVS_EA_AF,PDZD7
200597,10:102778750:T>C,NM_001195263.1:c.1153A>G,NP_001182192.1:p.Ser385Gly,8/17,\N,Unknown significance,\N,missense_variant,27.1,0.000106815,EXAC_SAS_AF,PDZD7
200598,10:102778753:A>C,NM_001195263.1:c.1150T>G,NP_001182192.1:p.Cys384Gly,8/17,\N,Unknown significance,\N,missense_variant,10.52,\N,\N,PDZD7
200599,10:102778754:C>G,NM_001195263.1:c.1149G>C,NP_001182192.1:p.Trp383Cys,8/17,\N,Unknown significance,\N,missense_variant,26.8,0.000324184,EXAC_SAS_AF,PDZD7
200600,10:102778767:C>T,NM_001195263.1:c.1136G>A,NP_001182192.1:p.Arg379Gln,8/17,\N,Benign,\N,missense_variant,0.361,0.00812693,EXAC_AFR_AF,PDZD7
200601,10:102778768:G>A,NM_001195263.1:c.1135C>T,NP_001182192.1:p.Arg379Trp,8/17,\N,Unknown significance,\N,missense_variant,19.34,\N,\N,PDZD7
200602,10:102778773:C>T,NM_001195263.1:c.1130G>A,NP_001182192.1:p.Gly377Glu,8/17,\N,Likely benign,\N,missense_variant,0.017,\N,\N,PDZD7
200603,10:102778775:C>T,NM_001195263.1:c.1128G>A,NP_001182192.1:p.Ala376=,8/17,\N,Unknown significance,\N,synonymous_variant,11.94,\N,\N,PDZD7
200604,10:102778776:G>T,NM_001195263.1:c.1127C>A,NP_001182192.1:p.Ala376Glu,8/17,\N,Likely benign,\N,missense_variant,0.01,\N,\N,PDZD7
200605,10:102778781:G>A,NM_001195263.1:c.1122C>T,NP_001182192.1:p.Pro374=,8/17,\N,Unknown significance,\N,synonymous_variant,10.77,\N,\N,PDZD7
200606,10:102778788:G>A,NM_001195263.1:c.1115C>T,NP_001182192.1:p.Thr372Met,8/17,\N,Unknown significance,\N,missense_variant,30,0,EXAC_ALL_AF|EXAC_AFR_AF|EXAC_AMR_AF|EXAC_EAS_AF|EXAC_FIN_AF|EXAC_NFE_AF|EXAC_OTH_AF|EXAC_SAS_AF,PDZD7
200607,10:102778788:G>T,NM_001195263.1:c.1115C>A,NP_001182192.1:p.Thr372Lys,8/17,\N,Unknown significance,\N,missense_variant,32,0.00223214,EXAC_AFR_AF,PDZD7
200608,10:102778797:G>A,NM_001195263.1:c.1106C>T,NP_001182192.1:p.Ala369Val,8/17,\N,Unknown significance,\N,missense_variant,33,0.000225327,EXAC_SAS_AF,PDZD7
200609,10:102778802:GT>G,NM_001195263.1:c.1100del,NP_001182192.1:p.Asp367AlafsTer72,8/17,\N,Unknown significance,\N,frameshift_variant,31,\N,\N,PDZD7
200610,10:102778809:C>T,NM_001195263.1:c.1094G>A,NP_001182192.1:p.Arg365Gln,8/17,\N,Unknown significance,\N,missense_variant,23.6,0.00132979,EXAC_AMR_AF,PDZD7
200611,10:102778810:G>A,NM_001195263.1:c.1093C>T,NP_001182192.1:p.Arg365Trp,8/17,\N,Likely benign,\N,missense_variant,28.5,0.000656264,EXAC_NFE_AF,PDZD7
200612,10:102778817:G>A,NM_001195263.1:c.1086C>T,NP_001182192.1:p.Gly362=,8/17,\N,Unknown significance,\N,synonymous_variant,12.24,0.000471698,EXAC_AFR_AF,PDZD7
200613,10:102778818:C>G,NM_001195263.1:c.1085G>C,NP_001182192.1:p.Gly362Ala,8/17,\N,Likely benign,\N,missense_variant,13.5,0.000224719,EXAC_SAS_AF,PDZD7
200614,10:102778819:C>G,NM_001195263.1:c.1084G>C,NP_001182192.1:p.Gly362Arg,8/17,\N,Unknown significance,\N,missense_variant,24.2,0.0000708115,EXAC_NFE_AF,PDZD7
200615,10:102778819:C>T,NM_001195263.1:c.1084G>A,NP_001182192.1:p.Gly362Ser,8/17,\N,Likely benign,\N,missense_variant,22,0.0014,1KG_AMR_AF,PDZD7
200616,10:102778824:C>T,NM_001195263.1:c.1079G>A,NP_001182192.1:p.Gly360Asp,8/17,\N,Likely benign,\N,missense_variant,15.29,0.0047619,EXAC_OTH_AF,PDZD7
200617,10:102778825:C>A,NM_001195263.1:c.1078G>T,NP_001182192.1:p.Gly360Cys,8/17,\N,Unknown significance,\N,missense_variant,27.7,0.0000751089,EXAC_NFE_AF,PDZD7
200618,10:102778825:C>G,NM_001195263.1:c.1078G>C,NP_001182192.1:p.Gly360Arg,8/17,\N,Likely benign,\N,missense_variant,16.6,0.00011374,EXAC_SAS_AF,PDZD7
200619,10:102778828:G>A,NM_001195263.1:c.1075C>T,NP_001182192.1:p.Arg359Cys,8/17,\N,Unknown significance,\N,missense_variant,23.2,0.000491642,EXAC_EAS_AF,PDZD7
200620,10:102778828:G>C,NM_001195263.1:c.1075C>G,NP_001182192.1:p.Arg359Gly,8/17,\N,Likely benign,\N,missense_variant,14.96,0.001,1KG_SAS_AF,PDZD7
200621,10:102778833:C>G,NM_001195263.1:c.1070G>C,NP_001182192.1:p.Gly357Ala,8/17,\N,Likely benign,\N,missense_variant,0.173,\N,\N,PDZD7
200622,10:102778834:C>G,NM_001195263.1:c.1069G>C,NP_001182192.1:p.Gly357Arg,8/17,\N,Likely benign,\N,missense_variant,6.552,\N,\N,PDZD7
200623,10:102778834:C>T,NM_001195263.1:c.1069G>A,NP_001182192.1:p.Gly357Ser,8/17,\N,Likely benign,\N,missense_variant,1.672,\N,\N,PDZD7
200624,10:102778847:C>T,NM_001195263.1:c.1056G>A,NP_001182192.1:p.Gly352=,8/17,\N,Unknown significance,\N,synonymous_variant,8.543,\N,\N,PDZD7
200625,10:102778848:C>T,NM_001195263.1:c.1055G>A,NP_001182192.1:p.Gly352Glu,8/17,\N,Unknown significance,\N,missense_variant,20.9,\N,\N,PDZD7
200626,10:102778849:C>G,NM_001195263.1:c.1054G>C,NP_001182192.1:p.Gly352Arg,8/17,\N,Unknown significance,\N,missense_variant,24,\N,\N,PDZD7
200627,10:102778849:C>T,NM_001195263.1:c.1054G>A,NP_001182192.1:p.Gly352Arg,8/17,\N,Unknown significance,\N,missense_variant,24.4,0.0000967492,EXAC_NFE_AF,PDZD7
200628,10:102778858:T>A,NM_001195263.1:c.1045A>T,NP_001182192.1:p.Ile349Phe,8/17,\N,Unknown significance,\N,missense_variant,19.38,\N,\N,PDZD7
200629,10:102778863:A>C,NM_001195263.1:c.1040T>G,NP_001182192.1:p.Met347Arg,8/17,\N,Likely benign,\N,missense_variant,2.025,0,EXAC_ALL_AF|EXAC_AFR_AF|EXAC_AMR_AF|EXAC_EAS_AF|EXAC_FIN_AF|EXAC_NFE_AF|EXAC_OTH_AF|EXAC_SAS_AF,PDZD7
200630,10:102778863:A>G,NM_001195263.1:c.1040T>C,NP_001182192.1:p.Met347Thr,8/17,\N,Likely benign,\N,missense_variant,0.361,0.000123001,EXAC_SAS_AF,PDZD7
200631,10:102778867:G>T,NM_001195263.1:c.1036C>A,NP_001182192.1:p.Arg346Ser,8/17,\N,Benign,\N,missense_variant,10.59,0.00625,EXAC_FIN_AF,PDZD7
200632,10:102778871:C>T,NM_001195263.1:c.1032G>A,NP_001182192.1:p.Ser344=,8/17,\N,Unknown significance,\N,synonymous_variant,12.74,0.000919118,EXAC_EAS_AF,PDZD7
200633,10:102778872:G>A,NM_001195263.1:c.1031C>T,NP_001182192.1:p.Ser344Leu,8/17,\N,Likely benign,\N,missense_variant,18.87,\N,\N,PDZD7
200634,10:102778876:G>A,NM_001195263.1:c.1027C>T,NP_001182192.1:p.Pro343Ser,8/17,\N,Unknown significance,\N,missense_variant,12.93,\N,\N,PDZD7
200635,10:102778878:A>C,NM_001195263.1:c.1025T>G,NP_001182192.1:p.Leu342Arg,8/17,\N,Unknown significance,\N,missense_variant,10.29,0.000255363,EXAC_SAS_AF,PDZD7
200636,10:102778885:C>G,NM_001195263.1:c.1018G>C,NP_001182192.1:p.Gly340Arg,8/17,\N,Likely benign,\N,missense_variant,8.117,0.000128966,EXAC_SAS_AF,PDZD7
200637,10:102778885:C>T,NM_001195263.1:c.1018G>A,NP_001182192.1:p.Gly340Ser,8/17,\N,Likely benign,\N,missense_variant,7.715,0,EXAC_ALL_AF|EXAC_AFR_AF|EXAC_AMR_AF|EXAC_EAS_AF|EXAC_FIN_AF|EXAC_NFE_AF|EXAC_OTH_AF|EXAC_SAS_AF,PDZD7
200638,10:102778892:G>A,NM_001195263.1:c.1011C>T,NP_001182192.1:p.Tyr337=,8/17,\N,Benign,\N,synonymous_variant,1.106,0.100806,EXAC_AMR_AF,PDZD7
200639,10:102778895:G>A,NM_001195263.1:c.1008C>T,NP_001182192.1:p.Pro336=,8/17,\N,Benign,\N,synonymous_variant,10.66,0.0462963,EXAC_FIN_AF,PDZD7
200640,10:102778914:G>C,NM_001195263.1:c.989C>G,NP_001182192.1:p.Ser330Trp,8/17,\N,Unknown significance,\N,missense_variant,29.9,0.000265252,EXAC_SAS_AF,PDZD7
200641,10:102778924:T>C,NM_001195263.1:c.979A>G,NP_001182192.1:p.Ser327Gly,8/17,\N,Unknown significance,\N,missense_variant,26,0.001,1KG_SAS_AF,PDZD7
200642,10:102778932:C>T,NM_001195263.1:c.971G>A,NP_001182192.1:p.Ser324Asn,8/17,\N,Unknown significance,\N,missense_variant,29.6,0.00402685,EXAC_SAS_AF,PDZD7
200643,10:102778944:G>A,NM_001195263.1:c.959C>T,NP_001182192.1:p.Pro320Leu,8/17,\N,Unknown significance,\N,missense_variant,20.3,\N,\N,PDZD7
200644,10:102778945:G>A,NM_001195263.1:c.958C>T,NP_001182192.1:p.Pro320Ser,8/17,\N,Benign,\N,missense_variant,9.442,0.00675676,EXAC_AMR_AF,PDZD7
200645,10:102778955:C>T,NM_001195263.1:c.948G>A,NP_001182192.1:p.Gln316=,8/17,\N,Unknown significance,\N,synonymous_variant,15.09,0.001,1KG_SAS_AF,PDZD7
200646,10:102778967:G>A,NM_001195263.1:c.936C>T,NP_001182192.1:p.Asn312=,8/17,\N,Benign,\N,synonymous_variant,13.17,0.0225922,EXAC_NFE_AF,PDZD7
200647,10:102778986:A>G,NM_001195263.1:c.929-12T>C,\N,\N,7/16,Unknown significance,\N,intron_variant,7.999,0.0014,1KG_AMR_AF,PDZD7
200648,10:102779006:G>A,NM_001195263.1:c.929-32C>T,\N,\N,7/16,Unknown significance,\N,intron_variant,8.838,\N,\N,PDZD7
200649,10:102779046:G>A,NM_001195263.1:c.929-72C>T,\N,\N,7/16,Unknown significance,\N,intron_variant,8.821,\N,\N,PDZD7
200650,10:102779095:C>G,NM_001195263.1:c.929-121G>C,\N,\N,7/16,Unknown significance,\N,intron_variant,8.449,0.001,1KG_SAS_AF,PDZD7
200651,10:102779113:G>A,NM_001195263.1:c.929-139C>T,\N,\N,7/16,Unknown significance,\N,intron_variant,8.199,\N,\N,PDZD7
200652,10:102779115:T>G,NM_001195263.1:c.929-141A>C,\N,\N,7/16,Unknown significance,\N,intron_variant,7.424,0.001,1KG_EAS_AF,PDZD7
200653,10:102779138:C>G,NM_001195263.1:c.929-164G>C,\N,\N,7/16,Unknown significance,\N,intron_variant,4.676,0.002,1KG_EAS_AF,PDZD7
200654,10:102779146:T>C,NM_001195263.1:c.929-172A>G,\N,\N,7/16,Unknown significance,\N,intron_variant,2.902,0.003,1KG_AFR_AF,PDZD7
200655,10:102779154:C>T,NM_001195263.1:c.929-180G>A,\N,\N,7/16,Unknown significance,\N,intron_variant,8.317,\N,\N,PDZD7
200656,10:102779174:T>TCCAGACCC,NM_001195263.1:c.929-208_929-201dup,\N,\N,7/16,Unknown significance,\N,intron_variant,7.415,\N,\N,PDZD7
200657,10:102779212:C>G,NM_001195263.1:c.929-238G>C,\N,\N,7/16,Unknown significance,\N,intron_variant,6.286,\N,\N,PDZD7
200658,10:102779255:C>T,NM_001195263.1:c.929-281G>A,\N,\N,7/16,Benign,\N,intron_variant,1.304,0.008,1KG_EUR_AF,PDZD7
200659,10:102779263:C>T,NM_001195263.1:c.929-289G>A,\N,\N,7/16,Unknown significance,\N,intron_variant,5.426,0.0008,1KG_AFR_AF,PDZD7
200660,10:102779265:G>A,NM_001195263.1:c.929-291C>T,\N,\N,7/16,Unknown significance,\N,intron_variant,4.957,0.001,1KG_EAS_AF,PDZD7
200661,10:102779281:CCTTCTG>C,NM_001195263.1:c.929-313_929-308del,\N,\N,7/16,Unknown significance,\N,intron_variant,\N,\N,\N,PDZD7
200662,10:102779299:GCCTCCTCCTCCTCCT>G,NM_001195263.1:c.929-340_929-326del,\N,\N,7/16,Unknown significance,\N,intron_variant,3.513,\N,\N,PDZD7
200663,10:102779312:C>G,NM_001195263.1:c.929-338G>C,\N,\N,7/16,Unknown significance,\N,intron_variant,1.615,\N,\N,PDZD7
200664,10:102779328:C>T,NM_001195263.1:c.929-354G>A,\N,\N,7/16,Benign,\N,intron_variant,2.767,0.1067,1KG_AFR_AF,PDZD7
200665,10:102779331:C>T,NM_001195263.1:c.929-357G>A,\N,\N,7/16,Benign,\N,intron_variant,2.827,0.3056,1KG_AFR_AF,PDZD7
200666,10:102779346:T>C,NM_001195263.1:c.929-372A>G,\N,\N,7/16,Unknown significance,\N,intron_variant,0.162,\N,\N,PDZD7
200667,10:102779360:C>G,NM_001195263.1:c.929-386G>C,\N,\N,7/16,Unknown significance,\N,intron_variant,1.366,0.0015,1KG_AFR_AF,PDZD7
200668,10:102779382:C>T,NM_001195263.1:c.929-408G>A,\N,\N,7/16,Unknown significance,\N,intron_variant,1.049,0.002,1KG_EUR_AF,PDZD7
200669,10:102779430:T>C,NM_001195263.1:c.929-456A>G,\N,\N,7/16,Unknown significance,\N,intron_variant,5.937,\N,\N,PDZD7
200670,10:102779485:C>T,NM_001195263.1:c.929-511G>A,\N,\N,7/16,Unknown significance,\N,intron_variant,3.143,\N,\N,PDZD7
200671,10:102779521:G>T,NM_001195263.1:c.929-547C>A,\N,\N,7/16,Benign,\N,intron_variant,0.57,0.7042,1KG_AFR_AF,PDZD7
200672,10:102779529:C>T,NM_001195263.1:c.929-555G>A,\N,\N,7/16,Unknown significance,\N,intron_variant,0.451,\N,\N,PDZD7
200673,10:102779539:C>T,NM_001195263.1:c.929-565G>A,\N,\N,7/16,Benign,\N,intron_variant,5.325,0.6944,1KG_AFR_AF,PDZD7
200674,10:102779602:C>A,NM_001195263.1:c.929-628G>T,\N,\N,7/16,Benign,\N,intron_variant,5.055,0.0136,1KG_AFR_AF,PDZD7
200675,10:102779602:C>T,NM_001195263.1:c.929-628G>A,\N,\N,7/16,Benign,\N,intron_variant,5.203,0.0102,1KG_SAS_AF,PDZD7
200676,10:102779608:C>T,NM_001195263.1:c.929-634G>A,\N,\N,7/16,Unknown significance,\N,intron_variant,6.383,\N,\N,PDZD7
200677,10:102779675:G>A,NM_001195263.1:c.928+700C>T,\N,\N,7/16,Unknown significance,\N,intron_variant,1.12,0.002,1KG_EUR_AF,PDZD7
200678,10:102779681:C>CTT,NM_001195263.1:c.928+692_928+693dup,\N,\N,7/16,Unknown significance,\N,intron_variant,\N,0.0029,1KG_AMR_AF,PDZD7
200679,10:102779768:C>T,NM_001195263.1:c.928+607G>A,\N,\N,7/16,Benign,\N,intron_variant,7.023,0.0179,1KG_EUR_AF,PDZD7
200680,10:102779775:T>G,NM_001195263.1:c.928+600A>C,\N,\N,7/16,Unknown significance,\N,intron_variant,9.241,0.001,1KG_SAS_AF,PDZD7
200681,10:102779835:A>G,NM_001195263.1:c.928+540T>C,\N,\N,7/16,Unknown significance,\N,intron_variant,8.401,0.0008,1KG_AFR_AF,PDZD7
200682,10:102779858:A>AATT,NM_001195263.1:c.928+514_928+516dup,\N,\N,7/16,Benign,\N,intron_variant,\N,0.006,1KG_EUR_AF,PDZD7
200683,10:102779858:A>ATTATT,NM_001195263.1:c.928+516_928+517insAATAA,\N,\N,7/16,Unknown significance,\N,intron_variant,\N,0.0008,1KG_AFR_AF,PDZD7
200684,10:102779858:AATT>A,NM_001195263.1:c.928+514_928+516del,\N,\N,7/16,Unknown significance,\N,intron_variant,1.024,\N,\N,PDZD7
200685,10:102779874:A>G,NM_001195263.1:c.928+501T>C,\N,\N,7/16,Unknown significance,\N,intron_variant,5.112,0.001,1KG_EAS_AF,PDZD7
200686,10:102779884:T>C,NM_001195263.1:c.928+491A>G,\N,\N,7/16,Unknown significance,\N,intron_variant,3.79,\N,\N,PDZD7
200687,10:102779905:T>C,NM_001195263.1:c.928+470A>G,\N,\N,7/16,Unknown significance,\N,intron_variant,0.471,0.001,1KG_SAS_AF,PDZD7
200688,10:102779989:C>T,NM_001195263.1:c.928+386G>A,\N,\N,7/16,Unknown significance,\N,intron_variant,1.174,\N,\N,PDZD7
200689,10:102780005:C>G,NM_001195263.1:c.928+370G>C,\N,\N,7/16,Unknown significance,\N,intron_variant,1.331,0.001,1KG_SAS_AF,PDZD7
200690,10:102780026:A>G,NM_001195263.1:c.928+349T>C,\N,\N,7/16,Benign,\N,intron_variant,1.293,0.0091,1KG_AFR_AF,PDZD7
200691,10:102780033:T>C,NM_001195263.1:c.928+342A>G,\N,\N,7/16,Unknown significance,\N,intron_variant,0.89,0.001,1KG_SAS_AF,PDZD7
200692,10:102780042:T>C,NM_001195263.1:c.928+333A>G,\N,\N,7/16,Benign,\N,intron_variant,0.842,0.0129,1KG_EUR_AF,PDZD7
200693,10:102780049:G>A,NM_001195263.1:c.928+326C>T,\N,\N,7/16,Unknown significance,\N,intron_variant,1.119,0.001,1KG_EAS_AF,PDZD7
200694,10:102780082:C>T,NM_001195263.1:c.928+293G>A,\N,\N,7/16,Unknown significance,\N,intron_variant,1.947,\N,\N,PDZD7
200695,10:102780105:C>T,NM_001195263.1:c.928+270G>A,\N,\N,7/16,Unknown significance,\N,intron_variant,0.229,0.0008,1KG_AFR_AF,PDZD7
200696,10:102780114:C>T,NM_001195263.1:c.928+261G>A,\N,\N,7/16,Unknown significance,\N,intron_variant,2.944,\N,\N,PDZD7
200697,10:102780143:G>A,NM_001195263.1:c.928+232C>T,\N,\N,7/16,Unknown significance,\N,intron_variant,0.159,\N,\N,PDZD7
200698,10:102780154:C>T,NM_001195263.1:c.928+221G>A,\N,\N,7/16,Unknown significance,\N,intron_variant,0.168,0.001,1KG_SAS_AF,PDZD7
200699,10:102780158:C>T,NM_001195263.1:c.928+217G>A,\N,\N,7/16,Unknown significance,\N,intron_variant,0.34,0.001,1KG_EAS_AF,PDZD7
200700,10:102780232:C>G,NM_001195263.1:c.928+143G>C,\N,\N,7/16,Unknown significance,\N,intron_variant,0.72,\N,\N,PDZD7
200701,10:102780233:G>A,NM_001195263.1:c.928+142C>T,\N,\N,7/16,Unknown significance,\N,intron_variant,0.256,0.004,1KG_EAS_AF,PDZD7
200702,10:102780265:G>A,NM_001195263.1:c.928+110C>T,\N,\N,7/16,Benign,\N,intron_variant,3.544,0.3877,1KG_EUR_AF,PDZD7
200703,10:102780286:A>C,NM_001195263.1:c.928+89T>G,\N,\N,7/16,Unknown significance,\N,intron_variant,0.453,0.0045,1KG_AFR_AF,PDZD7
200704,10:102780289:C>T,NM_001195263.1:c.928+86G>A,\N,\N,7/16,Unknown significance,\N,intron_variant,8.286,0.0015,1KG_AFR_AF,PDZD7
200705,10:102780312:G>T,NM_001195263.1:c.928+63C>A,\N,\N,7/16,Benign,\N,intron_variant,0.497,0.8631,1KG_AFR_AF,PDZD7
200706,10:102780313:C>T,NM_001195263.1:c.928+62G>A,\N,\N,7/16,Unknown significance,\N,intron_variant,3.573,\N,\N,PDZD7
200707,10:102780315:G>A,NM_001195263.1:c.928+60C>T,\N,\N,7/16,Unknown significance,\N,intron_variant,0.295,0.001,1KG_EUR_AF,PDZD7
200708,10:102780350:AC>A,NM_001195263.1:c.928+24del,\N,\N,7/16,Unknown significance,\N,intron_variant,0.23,\N,\N,PDZD7
200709,10:102780354:TG>T,NM_001195263.1:c.928+20del,\N,\N,7/16,Benign,\N,intron_variant,3.31,0.7057,1KG_AFR_AF,PDZD7
200710,10:102780355:G>T,NM_001195263.1:c.928+20C>A,\N,\N,7/16,Unknown significance,\N,intron_variant,0.946,0.000510204,EXAC_FIN_AF,PDZD7
200711,10:102780357:GA>G,NM_001195263.1:c.928+17del,\N,\N,7/16,Unknown significance,\N,intron_variant,0.093,0.0000966744,EXAC_AFR_AF,PDZD7
200712,10:102780374:C>T,NM_001195263.1:c.928+1G>A,\N,\N,7/16,Unknown significance,\N,splice_donor_variant,25.3,0.0000150083,EXAC_NFE_AF,PDZD7
200713,10:102780375:G>A,NM_001195263.1:c.928C>T,NP_001182192.1:p.Leu310=,7/17,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,7.475,0.001,1KG_EUR_AF,PDZD7
200714,10:102780377:C>A,NM_001195263.1:c.926G>T,NP_001182192.1:p.Arg309Leu,7/17,\N,Unknown significance,\N,missense_variant&splice_region_variant,23.9,0.0000607238,EXAC_SAS_AF,PDZD7
200715,10:102780377:C>G,NM_001195263.1:c.926G>C,NP_001182192.1:p.Arg309Pro,7/17,\N,Unknown significance,\N,missense_variant&splice_region_variant,23.8,0.0000865651,EXAC_AMR_AF,PDZD7
200716,10:102780377:C>T,NM_001195263.1:c.926G>A,NP_001182192.1:p.Arg309Gln,7/17,\N,Likely benign,\N,missense_variant&splice_region_variant,20.9,0.0000865651,EXAC_AMR_AF,PDZD7
200717,10:102780378:G>A,NM_001195263.1:c.925C>T,NP_001182192.1:p.Arg309Ter,7/17,\N,Unknown significance,\N,stop_gained,37,0.000364299,EXAC_SAS_AF,PDZD7
200718,10:102780378:G>T,NM_001195263.1:c.925C>A,NP_001182192.1:p.Arg309=,7/17,\N,Unknown significance,\N,synonymous_variant,10.3,0.0000150078,EXAC_NFE_AF,PDZD7
200719,10:102780379:G>A,NM_001195263.1:c.924C>T,NP_001182192.1:p.Asp308=,7/17,\N,Unknown significance,\N,synonymous_variant,7.346,0.0000607165,EXAC_SAS_AF,PDZD7
200720,10:102780387:A>C,NM_001195263.1:c.916T>G,NP_001182192.1:p.Trp306Gly,7/17,\N,Unknown significance,\N,missense_variant,29.3,0.0000150047,EXAC_NFE_AF,PDZD7
200721,10:102780390:A>C,NM_001195263.1:c.913T>G,NP_001182192.1:p.Cys305Gly,7/17,\N,Unknown significance,\N,missense_variant,16.56,\N,\N,PDZD7
200722,10:102780394:C>T,NM_001195263.1:c.909G>A,NP_001182192.1:p.Glu303=,7/17,\N,Unknown significance,\N,synonymous_variant,14.57,0.0000963391,EXAC_AFR_AF,PDZD7
200723,10:102780406:C>T,NM_001195263.1:c.897G>A,NP_001182192.1:p.Glu299=,7/17,\N,Unknown significance,\N,synonymous_variant,14.06,0.000116279,EVS_EA_AF,PDZD7
200724,10:102780408:C>T,NM_001195263.1:c.895G>A,NP_001182192.1:p.Glu299Lys,7/17,\N,Unknown significance,\N,missense_variant,31,0.000226963,EVS_AA_AF,PDZD7
200725,10:102780409:C>T,NM_001195263.1:c.894G>A,NP_001182192.1:p.Lys298=,7/17,\N,Unknown significance,\N,synonymous_variant,13.69,0.00017313,EXAC_AMR_AF,PDZD7
200726,10:102780412:G>A,NM_001195263.1:c.891C>T,NP_001182192.1:p.Tyr297=,7/17,\N,Unknown significance,\N,synonymous_variant,7.447,0.001,1KG_EUR_AF,PDZD7
200727,10:102780425:C>T,NM_001195263.1:c.878G>A,NP_001182192.1:p.Arg293Gln,7/17,\N,Unknown significance,\N,missense_variant,35,0.00017343,EXAC_AMR_AF,PDZD7
200728,10:102780425:C>A,NM_001195263.1:c.878G>T,NP_001182192.1:p.Arg293Leu,7/17,\N,Unknown significance,\N,missense_variant,35,0.0000867152,EXAC_AMR_AF,PDZD7
200729,10:102780426:G>A,NM_001195263.1:c.877C>T,NP_001182192.1:p.Arg293Trp,7/17,\N,Unknown significance,\N,missense_variant,34,0.000433651,EXAC_AMR_AF,PDZD7
200730,10:102780426:G>T,NM_001195263.1:c.877C>A,NP_001182192.1:p.Arg293=,7/17,\N,Unknown significance,\N,synonymous_variant,13.19,0.0000150331,EXAC_NFE_AF,PDZD7
200731,10:102780429:C>T,NM_001195263.1:c.874G>A,NP_001182192.1:p.Gly292Ser,7/17,\N,Unknown significance,\N,missense_variant,34,0.000303545,EXAC_SAS_AF,PDZD7
200732,10:102780430:G>A,NM_001195263.1:c.873C>T,NP_001182192.1:p.Thr291=,7/17,\N,Unknown significance,\N,synonymous_variant,11.48,0.0000607091,EXAC_SAS_AF,PDZD7
200733,10:102780430:G>C,NM_001195263.1:c.873C>G,NP_001182192.1:p.Thr291=,7/17,\N,Unknown significance,\N,synonymous_variant,9.605,0.0000150489,EXAC_NFE_AF,PDZD7
200734,10:102780435:C>G,NM_001195263.1:c.868G>C,NP_001182192.1:p.Glu290Gln,7/17,\N,Unknown significance,\N,missense_variant&splice_region_variant,27.3,0.001,1KG_EAS_AF,PDZD7
200735,10:102780445:G>C,NM_001195263.1:c.868-10C>G,\N,\N,6/16,Unknown significance,\N,intron_variant,8.739,\N,\N,PDZD7
200736,10:102780451:T>G,NM_001195263.1:c.868-16A>C,\N,\N,6/16,Unknown significance,\N,intron_variant,7.527,0.0000150543,EXAC_NFE_AF,PDZD7
200737,10:102780453:G>A,NM_001195263.1:c.868-18C>T,\N,\N,6/16,Unknown significance,\N,intron_variant,7.298,0.000226963,EVS_AA_AF,PDZD7
200738,10:102780463:G>A,NM_001195263.1:c.868-28C>T,\N,\N,6/16,Unknown significance,\N,intron_variant,9.605,0.000115848,EXAC_EAS_AF,PDZD7
200739,10:102780464:G>A,NM_001195263.1:c.868-29C>T,\N,\N,6/16,Unknown significance,\N,intron_variant,9.028,0.0000150684,EXAC_NFE_AF,PDZD7
200740,10:102780469:G>C,NM_001195263.1:c.868-34C>G,\N,\N,6/16,Unknown significance,\N,intron_variant,1.525,0.000097371,EXAC_AFR_AF,PDZD7
200741,10:102780477:T>A,NM_001195263.1:c.868-42A>T,\N,\N,6/16,Unknown significance,\N,intron_variant,6.251,0.0000611098,EXAC_SAS_AF,PDZD7
200742,10:102780480:G>A,NM_001195263.1:c.868-45C>T,\N,\N,6/16,Unknown significance,\N,intron_variant,4.861,0.0000151295,EXAC_NFE_AF,PDZD7
200743,10:102780485:G>A,NM_001195263.1:c.868-50C>T,\N,\N,6/16,Unknown significance,\N,intron_variant,6.391,0.00113122,EXAC_OTH_AF,PDZD7
200744,10:102780487:G>C,NM_001195263.1:c.868-52C>G,\N,\N,6/16,Unknown significance,\N,intron_variant,5.382,0.00221755,EXAC_EAS_AF,PDZD7
200745,10:102780501:CG>C,NM_001195263.1:c.868-67del,\N,\N,6/16,Unknown significance,\N,intron_variant,\N,\N,\N,PDZD7
200746,10:102780502:G>A,NM_001195263.1:c.868-67C>T,\N,\N,6/16,Unknown significance,\N,intron_variant,0.797,0.0038,1KG_AFR_AF,PDZD7
200747,10:102780510:C>G,NM_001195263.1:c.868-75G>C,\N,\N,6/16,Unknown significance,\N,intron_variant,2.511,\N,\N,PDZD7
200748,10:102780518:G>A,NM_001195263.1:c.868-83C>T,\N,\N,6/16,Unknown significance,\N,intron_variant,4.463,\N,\N,PDZD7
200749,10:102780568:C>T,NM_001195263.1:c.868-133G>A,\N,\N,6/16,Unknown significance,\N,intron_variant,4.239,0.001,1KG_EAS_AF,PDZD7
200750,10:102780569:G>A,NM_001195263.1:c.868-134C>T,\N,\N,6/16,Unknown significance,\N,intron_variant,0.426,0.0014,1KG_AMR_AF,PDZD7
200751,10:102780601:T>C,NM_001195263.1:c.868-166A>G,\N,\N,6/16,Unknown significance,\N,intron_variant,6.708,\N,\N,PDZD7
200752,10:102780611:C>T,NM_001195263.1:c.868-176G>A,\N,\N,6/16,Unknown significance,\N,intron_variant,9.685,0.003,1KG_EUR_AF,PDZD7
200753,10:102780614:T>C,NM_001195263.1:c.868-179A>G,\N,\N,6/16,Unknown significance,\N,intron_variant,4.389,\N,\N,PDZD7
200754,10:102780638:A>C,NM_001195263.1:c.868-203T>G,\N,\N,6/16,Benign,\N,intron_variant,2.778,0.708,1KG_AFR_AF,PDZD7
200755,10:102780679:A>G,NM_001195263.1:c.868-244T>C,\N,\N,6/16,Unknown significance,\N,intron_variant,3.711,\N,\N,PDZD7
200756,10:102780720:T>A,NM_001195263.1:c.868-285A>T,\N,\N,6/16,Unknown significance,\N,intron_variant,5.84,\N,\N,PDZD7
200757,10:102780742:G>T,NM_001195263.1:c.868-307C>A,\N,\N,6/16,Unknown significance,\N,intron_variant,0.066,0.002,1KG_EAS_AF,PDZD7
200758,10:102780780:G>A,NM_001195263.1:c.868-345C>T,\N,\N,6/16,Unknown significance,\N,intron_variant,9.979,0.001,1KG_EAS_AF,PDZD7
200759,10:102780816:C>T,NM_001195263.1:c.868-381G>A,\N,\N,6/16,Unknown significance,\N,intron_variant,1.139,0.001,1KG_SAS_AF,PDZD7
200760,10:102780821:C>T,NM_001195263.1:c.868-386G>A,\N,\N,6/16,Unknown significance,\N,intron_variant,1.473,0.0008,1KG_AFR_AF,PDZD7
200761,10:102780828:G>A,NM_001195263.1:c.868-393C>T,\N,\N,6/16,Unknown significance,\N,intron_variant,3.33,0.0008,1KG_AFR_AF,PDZD7
200762,10:102780857:G>A,NM_001195263.1:c.868-422C>T,\N,\N,6/16,Unknown significance,\N,intron_variant,1.684,0.0008,1KG_AFR_AF,PDZD7
200763,10:102780863:G>A,NM_001195263.1:c.868-428C>T,\N,\N,6/16,Unknown significance,\N,intron_variant,7.629,\N,\N,PDZD7
200764,10:102780885:T>C,NM_001195263.1:c.868-450A>G,\N,\N,6/16,Unknown significance,\N,intron_variant,3.228,0.001,1KG_EUR_AF,PDZD7
200765,10:102780890:A>G,NM_001195263.1:c.868-455T>C,\N,\N,6/16,Unknown significance,\N,intron_variant,0.304,0.0008,1KG_AFR_AF,PDZD7
200766,10:102780916:A>C,NM_001195263.1:c.868-481T>G,\N,\N,6/16,Benign,\N,intron_variant,0.718,0.0082,1KG_SAS_AF,PDZD7
200767,10:102780925:G>A,NM_001195263.1:c.868-490C>T,\N,\N,6/16,Unknown significance,\N,intron_variant,2.144,0.002,1KG_SAS_AF,PDZD7
200768,10:102780944:C>T,NM_001195263.1:c.868-509G>A,\N,\N,6/16,Benign,\N,intron_variant,0.752,0.0159,1KG_AFR_AF,PDZD7
200769,10:102780945:G>A,NM_001195263.1:c.868-510C>T,\N,\N,6/16,Unknown significance,\N,intron_variant,2.129,0.001,1KG_EAS_AF,PDZD7
200770,10:102780964:G>A,NM_001195263.1:c.868-529C>T,\N,\N,6/16,Unknown significance,\N,intron_variant,7.911,0.0008,1KG_AFR_AF,PDZD7
200771,10:102780985:C>T,NM_001195263.1:c.868-550G>A,\N,\N,6/16,Unknown significance,\N,intron_variant,0.476,0.001,1KG_SAS_AF,PDZD7
200772,10:102780986:C>T,NM_001195263.1:c.868-551G>A,\N,\N,6/16,Unknown significance,\N,intron_variant,2.081,0.001,1KG_SAS_AF,PDZD7
200773,10:102780987:C>G,NM_001195263.1:c.868-552G>C,\N,\N,6/16,Unknown significance,\N,intron_variant,1.142,0.001,1KG_SAS_AF,PDZD7
200774,10:102780988:A>G,NM_001195263.1:c.868-553T>C,\N,\N,6/16,Unknown significance,\N,intron_variant,2.336,0.001,1KG_SAS_AF,PDZD7
200775,10:102780989:A>G,NM_001195263.1:c.868-554T>C,\N,\N,6/16,Unknown significance,\N,intron_variant,0.751,0.001,1KG_SAS_AF,PDZD7
200776,10:102781067:G>A,NM_001195263.1:c.867+488C>T,\N,\N,6/16,Benign,\N,intron_variant,3.14,0.0051,1KG_SAS_AF,PDZD7
200777,10:102781073:G>A,NM_001195263.1:c.867+482C>T,\N,\N,6/16,Unknown significance,\N,intron_variant,0.913,\N,\N,PDZD7
200778,10:102781113:C>T,NM_001195263.1:c.867+442G>A,\N,\N,6/16,Unknown significance,\N,intron_variant,16.11,\N,\N,PDZD7
200779,10:102781118:A>G,NM_001195263.1:c.867+437T>C,\N,\N,6/16,Benign,\N,intron_variant,16.42,0.0061,1KG_AFR_AF,PDZD7
200780,10:102781135:C>G,NM_001195263.1:c.867+420G>C,\N,\N,6/16,Unknown significance,\N,intron_variant,4.088,\N,\N,PDZD7
200781,10:102781178:C>T,NM_001195263.1:c.867+377G>A,\N,\N,6/16,Unknown significance,\N,intron_variant,5.339,0.001,1KG_SAS_AF,PDZD7
200782,10:102781199:A>G,NM_001195263.1:c.867+356T>C,\N,\N,6/16,Unknown significance,\N,intron_variant,8.318,\N,\N,PDZD7
200783,10:102781201:C>G,NM_001195263.1:c.867+354G>C,\N,\N,6/16,Unknown significance,\N,intron_variant,4.584,0.0015,1KG_AFR_AF,PDZD7
200784,10:102781202:A>C,NM_001195263.1:c.867+353T>G,\N,\N,6/16,Unknown significance,\N,intron_variant,4.965,0.0023,1KG_AFR_AF,PDZD7
200785,10:102781220:C>T,NM_001195263.1:c.867+335G>A,\N,\N,6/16,Unknown significance,\N,intron_variant,5.609,\N,\N,PDZD7
200786,10:102781222:G>A,NM_001195263.1:c.867+333C>T,\N,\N,6/16,Benign,\N,intron_variant,3.337,0.1806,1KG_EAS_AF,PDZD7
200787,10:102781223:C>T,NM_001195263.1:c.867+332G>A,\N,\N,6/16,Unknown significance,\N,intron_variant,3.339,0.001,1KG_EUR_AF,PDZD7
200788,10:102781225:G>A,NM_001195263.1:c.867+330C>T,\N,\N,6/16,Unknown significance,\N,intron_variant,2.192,\N,\N,PDZD7
200789,10:102781229:C>A,NM_001195263.1:c.867+326G>T,\N,\N,6/16,Unknown significance,\N,intron_variant,5.242,0.003,1KG_EAS_AF,PDZD7
200790,10:102781236:T>A,NM_001195263.1:c.867+319A>T,\N,\N,6/16,Unknown significance,\N,intron_variant,7.954,\N,\N,PDZD7
200791,10:102781244:G>A,NM_001195263.1:c.867+311C>T,\N,\N,6/16,Unknown significance,\N,intron_variant,9.079,\N,\N,PDZD7
200792,10:102781250:G>A,NM_001195263.1:c.867+305C>T,\N,\N,6/16,Unknown significance,\N,intron_variant,5.661,\N,\N,PDZD7
200793,10:102781253:A>G,NM_001195263.1:c.867+302T>C,\N,\N,6/16,Unknown significance,\N,intron_variant,4.62,0.001,1KG_SAS_AF,PDZD7
200794,10:102781270:C>G,NM_001195263.1:c.867+285G>C,\N,\N,6/16,Unknown significance,\N,intron_variant,3.619,\N,\N,PDZD7
200795,10:102781291:G>A,NM_001195263.1:c.867+264C>T,\N,\N,6/16,Unknown significance,\N,intron_variant,6.136,0.001,1KG_SAS_AF,PDZD7
200796,10:102781317:G>A,NM_001195263.1:c.867+238C>T,\N,\N,6/16,Unknown significance,\N,intron_variant,4.197,0.0014,1KG_AMR_AF,PDZD7
200797,10:102781372:C>G,NM_001195263.1:c.867+183G>C,\N,\N,6/16,Unknown significance,\N,intron_variant,0.47,0.0015,1KG_AFR_AF,PDZD7
200798,10:102781413:A>G,NM_001195263.1:c.867+142T>C,\N,\N,6/16,Unknown significance,\N,intron_variant,11.59,0.0008,1KG_AFR_AF,PDZD7
200799,10:102781414:A>C,NM_001195263.1:c.867+141T>G,\N,\N,6/16,Unknown significance,\N,intron_variant,11.42,0.0023,1KG_AFR_AF,PDZD7
200800,10:102781426:G>A,NM_001195263.1:c.867+129C>T,\N,\N,6/16,Unknown significance,\N,intron_variant,9.582,0.001,1KG_SAS_AF,PDZD7
200801,10:102781426:G>C,NM_001195263.1:c.867+129C>G,\N,\N,6/16,Unknown significance,\N,intron_variant,6.911,\N,\N,PDZD7
200802,10:102781431:A>G,NM_001195263.1:c.867+124T>C,\N,\N,6/16,Unknown significance,\N,intron_variant,7.864,\N,\N,PDZD7
200803,10:102781456:T>G,NM_001195263.1:c.867+99A>C,\N,\N,6/16,Benign,\N,intron_variant,0.941,0.0278,1KG_EUR_AF,PDZD7
200804,10:102781460:A>G,NM_001195263.1:c.867+95T>C,\N,\N,6/16,Benign,\N,intron_variant,4.254,0.1518,1KG_EAS_AF,PDZD7
200805,10:102781499:G>A,NM_001195263.1:c.867+56C>T,\N,\N,6/16,Unknown significance,\N,intron_variant,1.393,0.001,1KG_EAS_AF,PDZD7
200806,10:102781508:G>A,NM_001195263.1:c.867+47C>T,\N,\N,6/16,Unknown significance,\N,intron_variant,4.589,0.0000449519,EXAC_NFE_AF,PDZD7
200807,10:102781514:A>G,NM_001195263.1:c.867+41T>C,\N,\N,6/16,Unknown significance,\N,intron_variant,1.475,0.000014984,EXAC_NFE_AF,PDZD7
200808,10:102781515:C>T,NM_001195263.1:c.867+40G>A,\N,\N,6/16,Unknown significance,\N,intron_variant,4.521,0.000226963,EVS_AA_AF,PDZD7
200809,10:102781519:A>G,NM_001195263.1:c.867+36T>C,\N,\N,6/16,Unknown significance,\N,intron_variant,2.834,0.000116279,EVS_EA_AF,PDZD7
200810,10:102781522:C>G,NM_001195263.1:c.867+33G>C,\N,\N,6/16,Unknown significance,\N,intron_variant,1.956,0.0000149835,EXAC_NFE_AF,PDZD7
200811,10:102781526:C>A,NM_001195263.1:c.867+29G>T,\N,\N,6/16,Unknown significance,\N,intron_variant,3.157,0.000029967,EXAC_NFE_AF,PDZD7
200812,10:102781527:C>A,NM_001195263.1:c.867+28G>T,\N,\N,6/16,Unknown significance,\N,intron_variant,2.019,0.0000149835,EXAC_NFE_AF,PDZD7
200813,10:102781535:AC>A,NM_001195263.1:c.867+19del,\N,\N,6/16,Unknown significance,\N,intron_variant,0.297,0.0000149835,EXAC_NFE_AF,PDZD7
200814,10:102781537:C>G,NM_001195263.1:c.867+18G>C,\N,\N,6/16,Unknown significance,\N,intron_variant,1.664,0.00103998,EXAC_EAS_AF,PDZD7
200815,10:102781538:C>T,NM_001195263.1:c.867+17G>A,\N,\N,6/16,Unknown significance,\N,intron_variant,1.87,0.0008,1KG_AFR_AF,PDZD7
200816,10:102781539:C>A,NM_001195263.1:c.867+16G>T,\N,\N,6/16,Unknown significance,\N,intron_variant,3.628,0.0000149835,EXAC_NFE_AF,PDZD7
200817,10:102781544:G>A,NM_001195263.1:c.867+11C>T,\N,\N,6/16,Unknown significance,\N,intron_variant,3.201,0.000116279,EVS_EA_AF,PDZD7
200818,10:102781547:C>T,NM_001195263.1:c.867+8G>A,\N,\N,6/16,Unknown significance,\N,splice_region_variant&intron_variant,6.722,0.000029967,EXAC_NFE_AF,PDZD7
200819,10:102781568:A>C,NM_001195263.1:c.854T>G,NP_001182192.1:p.Met285Arg,6/17,\N,Pathogenic,Hearing loss| non-syndromic| autosomal recessive,missense_variant,25.2,\N,\N,PDZD7
200820,10:102781570:GATGTGCGTTT>G,NM_001195263.1:c.842_851del,NP_001182192.1:p.Gln281ProfsTer3,6/17,\N,Unknown significance,\N,frameshift_variant,36,\N,\N,PDZD7
200821,10:102781571:A>T,NM_001195263.1:c.851T>A,NP_001182192.1:p.Ile284Asn,6/17,\N,Unknown significance,\N,missense_variant,29.8,\N,\N,PDZD7
200822,10:102781577:G>A,NM_001195263.1:c.845C>T,NP_001182192.1:p.Thr282Met,6/17,\N,Unknown significance,\N,missense_variant,32,0.000453926,EVS_AA_AF,PDZD7
200823,10:102781577:G>T,NM_001195263.1:c.845C>A,NP_001182192.1:p.Thr282Lys,6/17,\N,Unknown significance,\N,missense_variant,25.5,0.0000149835,EXAC_NFE_AF,PDZD7
200824,10:102781591:C>T,NM_001195263.1:c.831G>A,NP_001182192.1:p.Val277=,6/17,\N,Unknown significance,\N,synonymous_variant,14.25,0.000384394,EXAC_AFR_AF,PDZD7
200825,10:102781599:C>T,NM_001195263.1:c.823G>A,NP_001182192.1:p.Val275Met,6/17,\N,Unknown significance,\N,missense_variant,33,0.000226963,EVS_AA_AF,PDZD7
200826,10:102781600:G>A,NM_001195263.1:c.822C>T,NP_001182192.1:p.Ala274=,6/17,\N,Unknown significance,\N,synonymous_variant,16.72,0.000151194,EXAC_FIN_AF,PDZD7
200827,10:102781609:G>A,NM_001195263.1:c.813C>T,NP_001182192.1:p.His271=,6/17,\N,Unknown significance,\N,synonymous_variant,9.194,0.0000149835,EXAC_NFE_AF,PDZD7
200828,10:102781611:G>A,NM_001195263.1:c.811C>T,NP_001182192.1:p.His271Tyr,6/17,\N,Unknown significance,\N,missense_variant,28.3,0.000029967,EXAC_NFE_AF,PDZD7
200829,10:102781616:A>C,NM_001195263.1:c.806T>G,NP_001182192.1:p.Ile269Ser,6/17,\N,Unknown significance,\N,missense_variant,29.7,0.000363372,EXAC_SAS_AF,PDZD7
200830,10:102781620:C>G,NM_001195263.1:c.802G>C,NP_001182192.1:p.Asp268His,6/17,\N,Unknown significance,\N,missense_variant,23.6,0.0000299679,EXAC_NFE_AF,PDZD7
200831,10:102781620:C>T,NM_001195263.1:c.802G>A,NP_001182192.1:p.Asp268Asn,6/17,\N,Unknown significance,\N,missense_variant,21.8,0.002,1KG_EUR_AF,PDZD7
200832,10:102781621:G>A,NM_001195263.1:c.801C>T,NP_001182192.1:p.Asp267=,6/17,\N,Unknown significance,\N,synonymous_variant,7.687,0.000345483,EXAC_AMR_AF,PDZD7
200833,10:102781629:T>C,NM_024895.4:c.793A>G,NP_079171.1:p.Arg265Gly,6/10,\N,Likely benign,\N,missense_variant,16.34,0.0000149835,EXAC_NFE_AF,PDZD7
200834,10:102781636:G>A,NM_001195263.1:c.786C>T,NP_001182192.1:p.Asn262=,6/17,\N,Benign,\N,synonymous_variant,10.29,0.00514217,EXAC_FIN_AF,PDZD7
200835,10:102781637:T>C,NM_001195263.1:c.785A>G,NP_001182192.1:p.Asn262Ser,6/17,\N,Unknown significance,\N,missense_variant,23.4,0.000121124,EXAC_SAS_AF,PDZD7
200836,10:102781640:G>A,NM_001195263.1:c.782C>T,NP_001182192.1:p.Ala261Val,6/17,\N,Unknown significance,\N,missense_variant,23.4,0.0000449519,EXAC_NFE_AF,PDZD7
200837,10:102781648:G>T,NM_001195263.1:c.774C>A,NP_001182192.1:p.Val258=,6/17,\N,Unknown significance,\N,synonymous_variant,8.788,0.0000863707,EXAC_AMR_AF,PDZD7
200838,10:102781653:G>T,NM_001195263.1:c.769C>A,NP_001182192.1:p.Gln257Lys,6/17,\N,Unknown significance,\N,missense_variant,22.9,0.000116279,EVS_EA_AF,PDZD7
200839,10:102781660:C>A,NM_001195263.1:c.762G>T,NP_001182192.1:p.Val254=,6/17,\N,Unknown significance,\N,synonymous_variant,16.44,0.0000149862,EXAC_NFE_AF,PDZD7
200840,10:102781662:C>T,NM_001195263.1:c.760G>A,NP_001182192.1:p.Val254Met,6/17,\N,Unknown significance,\N,missense_variant,25,0.0000605767,EXAC_SAS_AF,PDZD7
200841,10:102781675:C>T,NM_001195263.1:c.747G>A,NP_001182192.1:p.Glu249=,6/17,\N,Unknown significance,\N,synonymous_variant,14.09,0.0000149961,EXAC_NFE_AF,PDZD7
200842,10:102781677:C>T,NM_001195263.1:c.745G>A,NP_001182192.1:p.Glu249Lys,6/17,\N,Unknown significance,\N,missense_variant,22.9,0.000121242,EXAC_SAS_AF,PDZD7
200843,10:102781680:C>T,NM_001195263.1:c.742G>A,NP_001182192.1:p.Glu248Lys,6/17,\N,Unknown significance,\N,missense_variant,34,0.000519751,EXAC_AMR_AF,PDZD7
200844,10:102781681:G>A,NM_001195263.1:c.741C>T,NP_001182192.1:p.Ala247=,6/17,\N,Unknown significance,\N,synonymous_variant,11.36,0.0000962649,EXAC_AFR_AF,PDZD7
200845,10:102781684:C>T,NM_001195263.1:c.738G>A,NP_001182192.1:p.Leu246=,6/17,\N,Unknown significance,\N,synonymous_variant,11.04,0.0000866852,EXAC_AMR_AF,PDZD7
200846,10:102781690:A>C,NM_001195263.1:c.732T>G,NP_001182192.1:p.Gly244=,6/17,\N,Unknown significance,\N,synonymous_variant,8.2,0.000173702,EXAC_AMR_AF,PDZD7
200847,10:102781690:A>T,NM_001195263.1:c.732T>A,NP_001182192.1:p.Gly244=,6/17,\N,Unknown significance,\N,synonymous_variant,8.933,0.0000965251,EXAC_AFR_AF,PDZD7
200848,10:102781693:A>G,NM_001195263.1:c.729T>C,NP_001182192.1:p.His243=,6/17,\N,Unknown significance,\N,synonymous_variant,4.099,0.000116279,EVS_EA_AF,PDZD7
200849,10:102781694:T>C,NM_001195263.1:c.728A>G,NP_001182192.1:p.His243Arg,6/17,\N,Unknown significance,\N,missense_variant,10.83,0.000694766,EXAC_EAS_AF,PDZD7
200850,10:102781694:TG>T,NM_001195263.1:c.727del,NP_001182192.1:p.His243MetfsTer36,6/17,\N,Unknown significance,\N,frameshift_variant,35,0.0000150448,EXAC_NFE_AF,PDZD7
200851,10:102781695:G>C,NM_001195263.1:c.727C>G,NP_001182192.1:p.His243Asp,6/17,\N,Unknown significance,\N,missense_variant,19.13,0.0008,1KG_AFR_AF,PDZD7
200852,10:102781696:G>A,NM_001195263.1:c.726C>T,NP_001182192.1:p.Asp242=,6/17,\N,Unknown significance,\N,synonymous_variant,6.947,0.0000150444,EXAC_NFE_AF,PDZD7
200853,10:102781718:C>T,NM_001195263.1:c.720-16G>A,\N,\N,5/16,Unknown significance,\N,intron_variant,4.592,0.001,1KG_EAS_AF,PDZD7
200854,10:102781719:G>A,NM_001195263.1:c.720-17C>T,\N,\N,5/16,Unknown significance,\N,intron_variant,4.93,0.000813953,EVS_EA_AF,PDZD7
200855,10:102781721:C>A,NM_001195263.1:c.720-19G>T,\N,\N,5/16,Unknown significance,\N,intron_variant,11.33,0.0000155608,EXAC_NFE_AF,PDZD7
200856,10:102781736:CT>C,NM_001195263.1:c.720-35del,\N,\N,5/16,Unknown significance,\N,intron_variant,17.26,0.00381679,EXAC_EAS_AF,PDZD7
200857,10:102781741:C>G,NM_001195263.1:c.720-39G>C,\N,\N,5/16,Unknown significance,\N,intron_variant,16.36,0.0000493778,EXAC_NFE_AF,PDZD7
200858,10:102781745:C>T,NM_001195263.1:c.720-43G>A,\N,\N,5/16,Unknown significance,\N,intron_variant,16.6,0.000017055,EXAC_NFE_AF,PDZD7
200859,10:102781749:C>T,NM_001195263.1:c.720-47G>A,\N,\N,5/16,Unknown significance,\N,intron_variant,5.155,0.0008,1KG_AFR_AF,PDZD7
200860,10:102781750:G>A,NM_001195263.1:c.720-48C>T,\N,\N,5/16,Unknown significance,\N,intron_variant,0.781,0.0000658762,EXAC_SAS_AF,PDZD7
200861,10:102781753:AC>A,NM_001195263.1:c.720-52del,\N,\N,5/16,Unknown significance,\N,intron_variant,1.826,0.000595061,EXAC_EAS_AF,PDZD7
200862,10:102781757:C>G,NM_001195263.1:c.720-55G>C,\N,\N,5/16,Unknown significance,\N,intron_variant,1.433,\N,\N,PDZD7
200863,10:102781768:C>T,NM_001195263.1:c.720-66G>A,\N,\N,5/16,Unknown significance,\N,intron_variant,8.883,\N,\N,PDZD7
200864,10:102781779:G>A,NM_001195263.1:c.720-77C>T,\N,\N,5/16,Unknown significance,\N,intron_variant,4.545,0.0031,1KG_SAS_AF,PDZD7
200865,10:102781794:C>G,NM_001195263.1:c.720-92G>C,\N,\N,5/16,Unknown significance,\N,intron_variant,2.249,0.0008,1KG_AFR_AF,PDZD7
200866,10:102781796:G>T,NM_001195263.1:c.720-94C>A,\N,\N,5/16,Unknown significance,\N,intron_variant,2.535,0.001,1KG_SAS_AF,PDZD7
200867,10:102781825:C>A,NM_001195263.1:c.720-123G>T,\N,\N,5/16,Benign,\N,intron_variant,4.796,0.0068,1KG_AFR_AF,PDZD7
200868,10:102781830:G>T,NM_001195263.1:c.720-128C>A,\N,\N,5/16,Benign,\N,intron_variant,0.117,0.091,1KG_SAS_AF,PDZD7
200869,10:102781844:C>A,NM_001195263.1:c.719+122G>T,\N,\N,5/16,Unknown significance,\N,intron_variant,6.284,0.0008,1KG_AFR_AF,PDZD7
200870,10:102781879:G>C,NM_001195263.1:c.719+87C>G,\N,\N,5/16,Unknown significance,\N,intron_variant,4.646,0.0008,1KG_AFR_AF,PDZD7
200871,10:102781914:C>A,NM_001195263.1:c.719+52G>T,\N,\N,5/16,Benign,\N,intron_variant,4.223,0.0431,1KG_AFR_AF,PDZD7
200872,10:102781916:A>G,NM_001195263.1:c.719+50T>C,\N,\N,5/16,Unknown significance,\N,intron_variant,3.453,0.000105775,EXAC_NFE_AF,PDZD7
200873,10:102781916:A>T,NM_001195263.1:c.719+50T>A,\N,\N,5/16,Unknown significance,\N,intron_variant,2.613,0.00146313,EXAC_AFR_AF,PDZD7
200874,10:102781919:C>T,NM_001195263.1:c.719+47G>A,\N,\N,5/16,Unknown significance,\N,intron_variant,4.444,0.0000150975,EXAC_NFE_AF,PDZD7
200875,10:102781921:C>G,NM_001195263.1:c.719+45G>C,\N,\N,5/16,Unknown significance,\N,intron_variant,0.703,0.002,1KG_SAS_AF,PDZD7
200876,10:102781924:T>G,NM_001195263.1:c.719+42A>C,\N,\N,5/16,Unknown significance,\N,intron_variant,4.659,0.0000150848,EXAC_NFE_AF,PDZD7
200877,10:102781933:C>A,NM_001195263.1:c.719+33G>T,\N,\N,5/16,Unknown significance,\N,intron_variant,5.563,0.000226963,EVS_AA_AF,PDZD7
200878,10:102781936:C>T,NM_001195263.1:c.719+30G>A,\N,\N,5/16,Unknown significance,\N,intron_variant,5.07,0.001,1KG_SAS_AF,PDZD7
200879,10:102781938:C>T,NM_001195263.1:c.719+28G>A,\N,\N,5/16,Unknown significance,\N,intron_variant,3.852,0.000116279,EVS_EA_AF,PDZD7
200880,10:102781939:G>A,NM_001195263.1:c.719+27C>T,\N,\N,5/16,Unknown significance,\N,intron_variant,0.094,0.0014,1KG_AMR_AF,PDZD7
200881,10:102781939:G>C,NM_001195263.1:c.719+27C>G,\N,\N,5/16,Unknown significance,\N,intron_variant,0.019,0.0000903424,EXAC_NFE_AF,PDZD7
200882,10:102781945:A>G,NM_001195263.1:c.719+21T>C,\N,\N,5/16,Unknown significance,\N,intron_variant,8.293,0.0000965624,EXAC_AFR_AF,PDZD7
200883,10:102781950:C>A,NM_001195263.1:c.719+16G>T,\N,\N,5/16,Unknown significance,\N,intron_variant,11.4,0.0000150245,EXAC_NFE_AF,PDZD7
200884,10:102781961:C>T,NM_001195263.1:c.719+5G>A,\N,\N,5/16,Unknown significance,\N,splice_region_variant&intron_variant,20.2,0.0000606575,EXAC_SAS_AF,PDZD7
200885,10:102781970:A>T,NM_001195263.1:c.715T>A,NP_001182192.1:p.Ser239Thr,5/17,\N,Unknown significance,\N,missense_variant,24.2,0.00011558,EXAC_EAS_AF,PDZD7
200886,10:102781971:C>T,NM_001195263.1:c.714G>A,NP_001182192.1:p.Val238=,5/17,\N,Unknown significance,\N,synonymous_variant,16.15,0.000116279,EVS_EA_AF,PDZD7
200887,10:102781974:A>G,NM_001195263.1:c.711T>C,NP_001182192.1:p.Tyr237=,5/17,\N,Unknown significance,\N,synonymous_variant,0.088,0.0000149934,EXAC_NFE_AF,PDZD7
200888,10:102781992:C>A,NM_001195263.1:c.693G>T,NP_001182192.1:p.Glu231Asp,5/17,\N,Unknown significance,\N,missense_variant,32,0.0000149898,EXAC_NFE_AF,PDZD7
200889,10:102781993:T>C,NM_001195263.1:c.692A>G,NP_001182192.1:p.Glu231Gly,5/17,\N,Unknown significance,\N,missense_variant,29.8,0.000115554,EXAC_EAS_AF,PDZD7
200890,10:102782000:C>T,NM_001195263.1:c.685G>A,NP_001182192.1:p.Gly229Ser,5/17,\N,Unknown significance,\N,missense_variant,34,0.000121153,EXAC_SAS_AF,PDZD7
200891,10:102782003:C>T,NM_001195263.1:c.682G>A,NP_001182192.1:p.Gly228Arg,5/17,\N,Pathogenic,Hearing loss| non-syndromic| autosomal recessive,missense_variant,33,0.0000149898,EXAC_NFE_AF,PDZD7
200892,10:102782005:C>A,NM_001195263.1:c.680G>T,NP_001182192.1:p.Arg227Leu,5/17,\N,Unknown significance,\N,missense_variant,35,0.000151976,EXAC_FIN_AF,PDZD7
200893,10:102782016:G>A,NM_001195263.1:c.669C>T,NP_001182192.1:p.Gly223=,5/17,\N,Unknown significance,\N,synonymous_variant,13.3,0.0014,1KG_AMR_AF,PDZD7
200894,10:102782030:C>G,NM_001195263.1:c.655G>C,NP_001182192.1:p.Asp219His,5/17,\N,Unknown significance,\N,missense_variant,32,0.0000149885,EXAC_NFE_AF,PDZD7
200895,10:102782031:G>A,NM_001195263.1:c.654C>T,NP_001182192.1:p.Asp218=,5/17,\N,Unknown significance,\N,synonymous_variant,11.74,0.0000149885,EXAC_NFE_AF,PDZD7
200896,10:102782031:G>T,NM_001195263.1:c.654C>A,NP_001182192.1:p.Asp218Glu,5/17,\N,Unknown significance,\N,missense_variant,23.8,0.0000149885,EXAC_NFE_AF,PDZD7
200897,10:102782033:C>T,NM_001195263.1:c.652G>A,NP_001182192.1:p.Asp218Asn,5/17,\N,Unknown significance,\N,missense_variant,27.9,0.000226963,EVS_AA_AF,PDZD7
200898,10:102782034:G>A,NM_001195263.1:c.651C>T,NP_001182192.1:p.Ser217=,5/17,\N,Unknown significance,\N,synonymous_variant,12.5,0.0000961354,EXAC_AFR_AF,PDZD7
200899,10:102782035:GA>G,NM_001195263.1:c.649del,NP_001182192.1:p.Ser217ProfsTer62,5/17,\N,Unknown significance,\N,frameshift_variant,34,0.000014988,EXAC_NFE_AF,PDZD7
200900,10:102782036:A>G,NM_024895.4:c.649T>C,NP_079171.1:p.Ser217Pro,5/10,\N,Unknown significance,\N,missense_variant,28.4,0.000172861,EXAC_AMR_AF,PDZD7
200901,10:102782037:G>A,NM_001195263.1:c.648C>T,NP_001182192.1:p.Thr216=,5/17,\N,Unknown significance,\N,synonymous_variant,10.88,0.0000149894,EXAC_NFE_AF,PDZD7
200902,10:102782045:A>G,NM_001195263.1:c.640T>C,NP_001182192.1:p.Tyr214His,5/17,\N,Unknown significance,\N,missense_variant,23.8,0.0000605767,EXAC_SAS_AF,PDZD7
200903,10:102782054:C>T,NM_001195263.1:c.631G>A,NP_001182192.1:p.Val211Ile,5/17,\N,Unknown significance,\N,missense_variant,23.4,0.0014,1KG_AMR_AF,PDZD7
200904,10:102782055:G>A,NM_001195263.1:c.630C>T,NP_001182192.1:p.Ile210=,5/17,\N,Unknown significance,\N,synonymous_variant,15.3,0.000232558,EVS_EA_AF,PDZD7
200905,10:102782057:T>C,NM_024895.4:c.628A>G,NP_079171.1:p.Ile210Val,5/10,\N,Unknown significance,\N,missense_variant,14.02,0.0000605694,EXAC_SAS_AF,PDZD7
200906,10:102782058:G>T,NM_001195263.1:c.627C>A,NP_001182192.1:p.Arg209=,5/17,\N,Unknown significance,\N,synonymous_variant,6.609,0.000226963,EVS_AA_AF,PDZD7
200907,10:102782060:G>A,NM_001195263.1:c.625C>T,NP_001182192.1:p.Arg209Cys,5/17,\N,Unknown significance,\N,missense_variant,32,0.0000149912,EXAC_NFE_AF,PDZD7
200908,10:102782062:C>A,NM_001195263.1:c.623G>T,NP_001182192.1:p.Arg208Leu,5/17,\N,Unknown significance,\N,missense_variant,25.2,0.000104938,EXAC_NFE_AF,PDZD7
200909,10:102782062:C>T,NM_001195263.1:c.623G>A,NP_001182192.1:p.Arg208Gln,5/17,\N,Unknown significance,\N,missense_variant,23.3,0.000231107,EXAC_EAS_AF,PDZD7
200910,10:102782063:G>A,NM_001195263.1:c.622C>T,NP_001182192.1:p.Arg208Trp,5/17,\N,Unknown significance,\N,missense_variant,28.3,0.00164218,EXAC_AMR_AF,PDZD7
200911,10:102782070:A>G,NM_001195263.1:c.615T>C,NP_001182192.1:p.Asp205=,5/17,\N,Unknown significance,\N,synonymous_variant,0.168,0.000115554,EXAC_EAS_AF,PDZD7
200912,10:102782071:T>G,NM_024895.4:c.614A>C,NP_079171.1:p.Asp205Ala,5/10,\N,Unknown significance,\N,missense_variant,10.82,0.0000149907,EXAC_NFE_AF,PDZD7
200913,10:102782077:G>T,NM_001195263.1:c.608C>A,NP_001182192.1:p.Ser203Ter,5/17,\N,Unknown significance,\N,stop_gained,37,0.0000605694,EXAC_SAS_AF,PDZD7
200914,10:102782087:C>G,NM_001195263.1:c.598G>C,NP_001182192.1:p.Asp200His,5/17,\N,Unknown significance,\N,missense_variant,15.97,0.0000961723,EXAC_AFR_AF,PDZD7
200915,10:102782087:C>T,NM_001195263.1:c.598G>A,NP_001182192.1:p.Asp200Asn,5/17,\N,Unknown significance,\N,missense_variant,13.2,0.00112379,EXAC_AMR_AF,PDZD7
200916,10:102782088:G>A,NM_001195263.1:c.597C>T,NP_001182192.1:p.Ser199=,5/17,\N,Unknown significance,\N,synonymous_variant,5.747,0.000259336,EXAC_AMR_AF,PDZD7
200917,10:102782093:G>A,NM_001195263.1:c.592C>T,NP_001182192.1:p.Pro198Ser,5/17,\N,Unknown significance,\N,missense_variant,11.56,0.0000449883,EXAC_NFE_AF,PDZD7
200918,10:102782100:A>T,NM_001195263.1:c.585T>A,NP_001182192.1:p.Gly195=,5/17,\N,Unknown significance,\N,synonymous_variant,0.008,0.0000299904,EXAC_NFE_AF,PDZD7
200919,10:102782102:C>G,NM_001195263.1:c.583G>C,NP_001182192.1:p.Gly195Arg,5/17,\N,Likely benign,\N,missense_variant,10.55,0.0000149984,EXAC_NFE_AF,PDZD7
200920,10:102782102:C>T,NM_001195263.1:c.583G>A,NP_001182192.1:p.Gly195Ser,5/17,\N,Likely benign,\N,missense_variant,1.211,0.000226963,EVS_AA_AF,PDZD7
200921,10:102782103:G>A,NM_001195263.1:c.582C>T,NP_001182192.1:p.Cys194=,5/17,\N,Unknown significance,\N,synonymous_variant,5.318,0.00157461,EXAC_SAS_AF,PDZD7
200922,10:102782113:A>T,NM_001195263.1:c.572T>A,NP_001182192.1:p.Val191Glu,5/17,\N,Benign,\N,missense_variant,24.6,0.00906977,EVS_EA_AF,PDZD7
200923,10:102782113:A>G,NM_001195263.1:c.572T>C,NP_001182192.1:p.Val191Ala,5/17,\N,Unknown significance,\N,missense_variant,23.7,0.0000449978,EXAC_NFE_AF,PDZD7
200924,10:102782122:C>T,NM_001195263.1:c.563G>A,NP_001182192.1:p.Arg188His,5/17,\N,Unknown significance,\N,missense_variant,33,0.0000150047,EXAC_NFE_AF,PDZD7
200925,10:102782123:G>A,NM_001195263.1:c.562C>T,NP_001182192.1:p.Arg188Cys,5/17,\N,Unknown significance,\N,missense_variant,32,0.0000605694,EXAC_SAS_AF,PDZD7
200926,10:102782123:G>T,NM_001195263.1:c.562C>A,NP_001182192.1:p.Arg188Ser,5/17,\N,Benign,\N,missense_variant,24.3,0.006,1KG_EAS_AF,PDZD7
200927,10:102782125:C>T,NM_001195263.1:c.560G>A,NP_001182192.1:p.Arg187Gln,5/17,\N,Unknown significance,\N,missense_variant,23.5,0.000226963,EVS_AA_AF,PDZD7
200928,10:102782126:G>A,NM_001195263.1:c.559C>T,NP_001182192.1:p.Arg187Trp,5/17,\N,Unknown significance,\N,missense_variant,34,0.0015,1KG_AFR_AF,PDZD7
200929,10:102782131:AC>A,NM_001195263.1:c.553del,NP_001182192.1:p.Val185Ter,5/17,\N,Unknown significance,\N,frameshift_variant,34,0.0000150087,EXAC_NFE_AF,PDZD7
200930,10:102782137:T>A,NM_001195263.1:c.548A>T,NP_001182192.1:p.Asp183Val,5/17,\N,Unknown significance,\N,missense_variant,28.9,\N,\N,PDZD7
200931,10:102782145:G>A,NM_001195263.1:c.543-3C>T,\N,\N,4/16,Unknown significance,\N,splice_region_variant&intron_variant,7.471,0.0000606208,EXAC_SAS_AF,PDZD7
200932,10:102782151:C>T,NM_001195263.1:c.543-9G>A,\N,\N,4/16,Unknown significance,\N,intron_variant,4.381,0.000453926,EVS_AA_AF,PDZD7
200933,10:102782154:C>T,NM_001195263.1:c.543-12G>A,\N,\N,4/16,Unknown significance,\N,intron_variant,6.715,0.0014,1KG_AMR_AF,PDZD7
200934,10:102782155:A>AG,NM_001195263.1:c.543-14dup,\N,\N,4/16,Unknown significance,\N,intron_variant,1.64,0.000462642,EXAC_EAS_AF,PDZD7
200935,10:102782157:G>A,NM_001195263.1:c.543-15C>T,\N,\N,4/16,Unknown significance,\N,intron_variant,5.275,0.0000301377,EXAC_NFE_AF,PDZD7
200936,10:102782158:G>A,NM_001195263.1:c.543-16C>T,\N,\N,4/16,Unknown significance,\N,intron_variant,4.806,0.000115714,EXAC_EAS_AF,PDZD7
200937,10:102782159:G>A,NM_001195263.1:c.543-17C>T,\N,\N,4/16,Unknown significance,\N,intron_variant,3.382,0.0000867303,EXAC_AMR_AF,PDZD7
200938,10:102782160:G>A,NM_001195263.1:c.543-18C>T,\N,\N,4/16,Unknown significance,\N,intron_variant,0.48,0.000115768,EXAC_EAS_AF,PDZD7
200939,10:102782169:TG>T,NM_001195263.1:c.543-28del,\N,\N,4/16,Unknown significance,\N,intron_variant,0.504,0.0000606796,EXAC_SAS_AF,PDZD7
200940,10:102782172:G>C,NM_001195263.1:c.543-30C>G,\N,\N,4/16,Unknown significance,\N,intron_variant,0.7,0.000182083,EXAC_SAS_AF,PDZD7
200941,10:102782173:G>T,NM_001195263.1:c.543-31C>A,\N,\N,4/16,Unknown significance,\N,intron_variant,1.492,0.000115982,EXAC_EAS_AF,PDZD7
200942,10:102782174:T>C,NM_001195263.1:c.543-32A>G,\N,\N,4/16,Unknown significance,\N,intron_variant,2.51,0.0000606943,EXAC_SAS_AF,PDZD7
200943,10:102782177:T>C,NM_001195263.1:c.543-35A>G,\N,\N,4/16,Unknown significance,\N,intron_variant,3.039,\N,\N,PDZD7
200944,10:102782179:C>T,NM_001195263.1:c.543-37G>A,\N,\N,4/16,Unknown significance,\N,intron_variant,6.142,0.0000977326,EXAC_AFR_AF,PDZD7
200945,10:102782181:T>C,NM_001195263.1:c.543-39A>G,\N,\N,4/16,Unknown significance,\N,intron_variant,3.54,0.000116279,EVS_EA_AF,PDZD7
200946,10:102782186:T>G,NM_001195263.1:c.543-44A>C,\N,\N,4/16,Unknown significance,\N,intron_variant,4.505,0.0000303232,EXAC_NFE_AF,PDZD7
200947,10:102782212:C>T,NM_001195263.1:c.543-70G>A,\N,\N,4/16,Unknown significance,\N,intron_variant,3.837,\N,\N,PDZD7
200948,10:102782236:G>A,NM_001195263.1:c.543-94C>T,\N,\N,4/16,Unknown significance,\N,intron_variant,3.913,0.0015,1KG_AFR_AF,PDZD7
200949,10:102782291:A>AG,NM_001195263.1:c.543-150dup,\N,\N,4/16,Unknown significance,\N,intron_variant,\N,\N,\N,PDZD7
200950,10:102782309:A>C,NM_001195263.1:c.543-167T>G,\N,\N,4/16,Benign,\N,intron_variant,1.72,0.1051,1KG_AFR_AF,PDZD7
200951,10:102782409:G>C,NM_001195263.1:c.543-267C>G,\N,\N,4/16,Benign,\N,intron_variant,0.009,0.0106,1KG_AFR_AF,PDZD7
200952,10:102782434:C>T,NM_001195263.1:c.543-292G>A,\N,\N,4/16,Unknown significance,\N,intron_variant,6.52,0.0008,1KG_AFR_AF,PDZD7
200953,10:102782440:C>T,NM_001195263.1:c.543-298G>A,\N,\N,4/16,Unknown significance,\N,intron_variant,11.5,\N,\N,PDZD7
200954,10:102782447:G>T,NM_001195263.1:c.543-305C>A,\N,\N,4/16,Benign,\N,intron_variant,10.71,0.0507,1KG_EUR_AF,PDZD7
200955,10:102782471:G>C,NM_001195263.1:c.543-329C>G,\N,\N,4/16,Unknown significance,\N,intron_variant,0.473,0.001,1KG_SAS_AF,PDZD7
200956,10:102782509:A>G,NM_001195263.1:c.543-367T>C,\N,\N,4/16,Unknown significance,\N,intron_variant,4.781,0.0029,1KG_AMR_AF,PDZD7
200957,10:102782580:A>C,NM_001195263.1:c.543-438T>G,\N,\N,4/16,Unknown significance,\N,intron_variant,0.896,0.003,1KG_AFR_AF,PDZD7
200958,10:102782597:T>C,NM_001195263.1:c.543-455A>G,\N,\N,4/16,Unknown significance,\N,intron_variant,0.901,0.0008,1KG_AFR_AF,PDZD7
200959,10:102782599:G>A,NM_001195263.1:c.543-457C>T,\N,\N,4/16,Benign,\N,intron_variant,0.456,0.091,1KG_SAS_AF,PDZD7
200960,10:102782648:A>G,NM_001195263.1:c.543-506T>C,\N,\N,4/16,Benign,\N,intron_variant,2.704,0.7012,1KG_AFR_AF,PDZD7
200961,10:102782673:G>A,NM_001195263.1:c.542+520C>T,\N,\N,4/16,Unknown significance,\N,intron_variant,2.299,0.0008,1KG_AFR_AF,PDZD7
200962,10:102782673:G>T,NM_001195263.1:c.542+520C>A,\N,\N,4/16,Unknown significance,\N,intron_variant,0.642,\N,\N,PDZD7
200963,10:102782674:C>T,NM_001195263.1:c.542+519G>A,\N,\N,4/16,Unknown significance,\N,intron_variant,2.403,0.001,1KG_EUR_AF,PDZD7
200964,10:102782686:C>T,NM_001195263.1:c.542+507G>A,\N,\N,4/16,Unknown significance,\N,intron_variant,0.095,\N,\N,PDZD7
200965,10:102782690:C>T,NM_001195263.1:c.542+503G>A,\N,\N,4/16,Unknown significance,\N,intron_variant,0.082,\N,\N,PDZD7
200966,10:102782706:T>C,NM_001195263.1:c.542+487A>G,\N,\N,4/16,Unknown significance,\N,intron_variant,0.14,0.002,1KG_EUR_AF,PDZD7
200967,10:102782713:C>G,NM_001195263.1:c.542+480G>C,\N,\N,4/16,Benign,\N,intron_variant,0.534,0.6982,1KG_AFR_AF,PDZD7
200968,10:102782724:T>G,NM_001195263.1:c.542+469A>C,\N,\N,4/16,Benign,\N,intron_variant,1.338,0.4016,1KG_EUR_AF,PDZD7
200969,10:102782729:A>G,NM_001195263.1:c.542+464T>C,\N,\N,4/16,Unknown significance,\N,intron_variant,2.839,0.001,1KG_SAS_AF,PDZD7
200970,10:102782742:T>C,NM_001195263.1:c.542+451A>G,\N,\N,4/16,Unknown significance,\N,intron_variant,5.669,0.002,1KG_SAS_AF,PDZD7
200971,10:102782856:G>A,NM_001195263.1:c.542+337C>T,\N,\N,4/16,Unknown significance,\N,intron_variant,1.838,\N,\N,PDZD7
200972,10:102782857:A>T,NM_001195263.1:c.542+336T>A,\N,\N,4/16,Unknown significance,\N,intron_variant,0.594,\N,\N,PDZD7
200973,10:102782858:G>A,NM_001195263.1:c.542+335C>T,\N,\N,4/16,Unknown significance,\N,intron_variant,2.272,\N,\N,PDZD7
200974,10:102782923:A>T,NM_001195263.1:c.542+270T>A,\N,\N,4/16,Unknown significance,\N,intron_variant,0.805,0.002,1KG_EAS_AF,PDZD7
200975,10:102782934:T>G,NM_001195263.1:c.542+259A>C,\N,\N,4/16,Unknown significance,\N,intron_variant,2.788,0.0023,1KG_AFR_AF,PDZD7
200976,10:102782957:G>A,NM_001195263.1:c.542+236C>T,\N,\N,4/16,Unknown significance,\N,intron_variant,3.944,\N,\N,PDZD7
200977,10:102782961:C>T,NM_001195263.1:c.542+232G>A,\N,\N,4/16,Unknown significance,\N,intron_variant,2.082,\N,\N,PDZD7
200978,10:102782962:G>A,NM_001195263.1:c.542+231C>T,\N,\N,4/16,Unknown significance,\N,intron_variant,0.53,0.001,1KG_EUR_AF,PDZD7
200979,10:102782969:T>G,NM_001195263.1:c.542+224A>C,\N,\N,4/16,Unknown significance,\N,intron_variant,2.354,\N,\N,PDZD7
200980,10:102783015:G>C,NM_001195263.1:c.542+178C>G,\N,\N,4/16,Unknown significance,\N,intron_variant,1.295,\N,\N,PDZD7
200981,10:102783031:C>T,NM_001195263.1:c.542+162G>A,\N,\N,4/16,Unknown significance,\N,intron_variant,0.07,\N,\N,PDZD7
200982,10:102783087:C>T,NM_001195263.1:c.542+106G>A,\N,\N,4/16,Unknown significance,\N,intron_variant,0.267,\N,\N,PDZD7
200983,10:102783091:C>T,NM_001195263.1:c.542+102G>A,\N,\N,4/16,Unknown significance,\N,intron_variant,3.981,\N,\N,PDZD7
200984,10:102783145:G>C,NM_001195263.1:c.542+48C>G,\N,\N,4/16,Benign,\N,intron_variant,4.144,0.5023,1KG_AFR_AF,PDZD7
200985,10:102783150:G>T,NM_001195263.1:c.542+43C>A,\N,\N,4/16,Unknown significance,\N,intron_variant,9.808,0.000261552,EXAC_AMR_AF,PDZD7
200986,10:102783177:G>A,NM_001195263.1:c.542+16C>T,\N,\N,4/16,Unknown significance,\N,intron_variant,3.185,0.0000972573,EXAC_AFR_AF,PDZD7
200987,10:102783186:T>G,NM_001195263.1:c.542+7A>C,\N,\N,4/16,Unknown significance,\N,splice_region_variant&intron_variant,14.08,0.0000865801,EXAC_AMR_AF,PDZD7
200988,10:102783190:C>T,NM_001195263.1:c.542+3G>A,\N,\N,4/16,Unknown significance,\N,splice_region_variant&intron_variant,15.64,0.0000301823,EXAC_NFE_AF,PDZD7
200989,10:102783195:C>T,NM_001195263.1:c.540G>A,NP_001182192.1:p.Thr180=,4/17,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,15.08,0.00243394,EXAC_EAS_AF,PDZD7
200990,10:102783196:G>A,NM_001195263.1:c.539C>T,NP_001182192.1:p.Thr180Met,4/17,\N,Unknown significance,\N,missense_variant,32,0.000348837,EVS_EA_AF,PDZD7
200991,10:102783199:G>A,NM_001195263.1:c.536C>T,NP_001182192.1:p.Thr179Ile,4/17,\N,Unknown significance,\N,missense_variant,24.8,0.0000865202,EXAC_AMR_AF,PDZD7
200992,10:102783206:C>T,NM_001195263.1:c.529G>A,NP_001182192.1:p.Glu177Lys,4/17,\N,Unknown significance,\N,missense_variant,34,0.0008,1KG_AFR_AF,PDZD7
200993,10:102783217:T>C,NM_001195263.1:c.518A>G,NP_001182192.1:p.Lys173Arg,4/17,\N,Unknown significance,\N,missense_variant,9.877,0.0000605767,EXAC_SAS_AF,PDZD7
200994,10:102783223:C>T,NM_001195263.1:c.512G>A,NP_001182192.1:p.Gly171Asp,4/17,\N,Unknown significance,\N,missense_variant,27.8,0.0000150625,EXAC_NFE_AF,PDZD7
200995,10:102783225:C>G,NM_001195263.1:c.510G>C,NP_001182192.1:p.Pro170=,4/17,\N,Unknown significance,\N,synonymous_variant,9.943,0.000226963,EVS_AA_AF,PDZD7
200996,10:102783225:C>T,NM_001195263.1:c.510G>A,NP_001182192.1:p.Pro170=,4/17,\N,Unknown significance,\N,synonymous_variant,11.9,0.00110865,EXAC_OTH_AF,PDZD7
200997,10:102783226:G>A,NM_001195263.1:c.509C>T,NP_001182192.1:p.Pro170Leu,4/17,\N,Unknown significance,\N,missense_variant,32,0.000231803,EXAC_EAS_AF,PDZD7
200998,10:102783229:A>G,NM_001195263.1:c.506T>C,NP_001182192.1:p.Val169Ala,4/17,\N,Unknown significance,\N,missense_variant,23.8,\N,\N,PDZD7
200999,10:102783232:C>T,NM_024895.4:c.503G>A,NP_079171.1:p.Arg168His,4/10,\N,Unknown significance,\N,missense_variant,25.1,0.001,1KG_SAS_AF,PDZD7
201000,10:102783239:T>G,NM_001195263.1:c.496A>C,NP_001182192.1:p.Met166Leu,4/17,\N,Unknown significance,\N,missense_variant,17.4,0.0000864753,EXAC_AMR_AF,PDZD7
201001,10:102783241:C>A,NM_001195263.1:c.494G>T,NP_001182192.1:p.Arg165Leu,4/17,\N,Unknown significance,\N,missense_variant,34,0.000453926,EVS_AA_AF,PDZD7
201002,10:102783241:C>T,NM_001195263.1:c.494G>A,NP_001182192.1:p.Arg165His,4/17,\N,Unknown significance,\N,missense_variant,34,0.001,1KG_EUR_AF,PDZD7
201003,10:102783242:G>A,NM_001195263.1:c.493C>T,NP_001182192.1:p.Arg165Cys,4/17,\N,Unknown significance,\N,missense_variant,34,0.0000605694,EXAC_SAS_AF,PDZD7
201004,10:102783244:C>T,NM_001195263.1:c.491G>A,NP_001182192.1:p.Arg164Gln,4/17,\N,Unknown significance,\N,missense_variant,29.7,0.0008,1KG_AFR_AF,PDZD7
201005,10:102783245:G>A,NM_001195263.1:c.490C>T,NP_001182192.1:p.Arg164Trp,4/17,\N,Unknown significance,\N,missense_variant,28.4,0.001,1KG_EAS_AF,PDZD7
201006,10:102783245:G>C,NM_001195263.1:c.490C>G,NP_001182192.1:p.Arg164Gly,4/17,\N,Unknown significance,\N,missense_variant,25.7,0.0000605767,EXAC_SAS_AF,PDZD7
201007,10:102783249:C>A,NM_001195263.1:c.486G>T,NP_001182192.1:p.Met162Ile,4/17,\N,Unknown significance,\N,missense_variant,20.7,0.0000150562,EXAC_NFE_AF,PDZD7
201008,10:102783251:T>C,NM_001195263.1:c.484A>G,NP_001182192.1:p.Met162Val,4/17,\N,Unknown significance,\N,missense_variant,0.152,\N,\N,PDZD7
201009,10:102783254:T>A,NM_001195263.1:c.481A>T,NP_001182192.1:p.Met161Leu,4/17,\N,Unknown significance,\N,missense_variant,18.54,0.000116279,EVS_EA_AF,PDZD7
201010,10:102783254:T>C,NM_001195263.1:c.481A>G,NP_001182192.1:p.Met161Val,4/17,\N,Unknown significance,\N,missense_variant,13.76,0.0000150593,EXAC_NFE_AF,PDZD7
201011,10:102783262:C>T,NM_001195263.1:c.473G>A,NP_001182192.1:p.Arg158His,4/17,\N,Unknown significance,\N,missense_variant,24.1,0.0008,1KG_AFR_AF,PDZD7
201012,10:102783264:G>A,NM_001195263.1:c.471C>T,NP_001182192.1:p.Ser157=,4/17,\N,Unknown significance,\N,synonymous_variant,6.678,0.000116279,EVS_EA_AF,PDZD7
201013,10:102783285:T>C,NM_001195263.1:c.450A>G,NP_001182192.1:p.Val150=,4/17,\N,Unknown significance,\N,synonymous_variant,0.11,0.00034827,EXAC_EAS_AF,PDZD7
201014,10:102783286:A>G,NM_001195263.1:c.449T>C,NP_001182192.1:p.Val150Ala,4/17,\N,Unknown significance,\N,missense_variant,24.3,0.0000605694,EXAC_SAS_AF,PDZD7
201015,10:102783287:C>T,NM_001195263.1:c.448G>A,NP_001182192.1:p.Val150Ile,4/17,\N,Unknown significance,\N,missense_variant,24.9,0.000181708,EXAC_SAS_AF,PDZD7
201016,10:102783288:G>A,NM_001195263.1:c.447C>T,NP_001182192.1:p.Ala149=,4/17,\N,Unknown significance,\N,synonymous_variant,7.083,0.001,1KG_SAS_AF,PDZD7
201017,10:102783289:G>A,NM_001195263.1:c.446C>T,NP_001182192.1:p.Ala149Val,4/17,\N,Unknown significance,\N,missense_variant,25.5,0.0000150684,EXAC_NFE_AF,PDZD7
201018,10:102783290:C>T,NM_001195263.1:c.445G>A,NP_001182192.1:p.Ala149Thr,4/17,\N,Unknown significance,\N,missense_variant,28.3,0.000151286,EXAC_FIN_AF,PDZD7
201019,10:102783291:G>A,NM_001195263.1:c.444C>T,NP_001182192.1:p.Ser148=,4/17,\N,Unknown significance,\N,synonymous_variant,6.599,0.0000150698,EXAC_NFE_AF,PDZD7
201020,10:102783292:C>T,NM_001195263.1:c.443G>A,NP_001182192.1:p.Ser148Asn,4/17,\N,Unknown significance,\N,missense_variant,24.7,0.0000605767,EXAC_SAS_AF,PDZD7
201021,10:102783299:T>C,NM_001195263.1:c.436A>G,NP_001182192.1:p.Met146Val,4/17,\N,Unknown significance,\N,missense_variant,7.982,0.000151286,EXAC_FIN_AF,PDZD7
201022,10:102783301:G>A,NM_001195263.1:c.434C>T,NP_001182192.1:p.Thr145Ile,4/17,\N,Unknown significance,\N,missense_variant,25.3,0.0000605767,EXAC_SAS_AF,PDZD7
201023,10:102783318:C>T,NM_001195263.1:c.417G>A,NP_001182192.1:p.Leu139=,4/17,\N,Unknown significance,\N,synonymous_variant,4.056,0.000015082,EXAC_NFE_AF,PDZD7
201024,10:102783322:C>T,NM_001195263.1:c.413G>A,NP_001182192.1:p.Gly138Glu,4/17,\N,Unknown significance,\N,missense_variant,26.5,0.0000150871,EXAC_NFE_AF,PDZD7
201025,10:102783324:A>G,NM_001195263.1:c.411T>C,NP_001182192.1:p.Asn137=,4/17,\N,Unknown significance,\N,synonymous_variant,0.019,0.00110865,EXAC_OTH_AF,PDZD7
201026,10:102783332:C>G,NM_001195263.1:c.403G>C,NP_001182192.1:p.Glu135Gln,4/17,\N,Unknown significance,\N,missense_variant,26,0.000226963,EVS_AA_AF,PDZD7
201027,10:102783333:C>T,NM_001195263.1:c.402G>A,NP_001182192.1:p.Thr134=,4/17,\N,Unknown significance,\N,synonymous_variant,14.26,0.000226963,EVS_AA_AF,PDZD7
201028,10:102783341:T>C,NM_001195263.1:c.394A>G,NP_001182192.1:p.Lys132Glu,4/17,\N,Unknown significance,\N,missense_variant,25.5,\N,\N,PDZD7
201029,10:102783345:C>T,NM_001195263.1:c.390G>A,NP_001182192.1:p.Gly130=,4/17,\N,Unknown significance,\N,synonymous_variant,14.96,0.0000454256,EXAC_NFE_AF,PDZD7
201030,10:102783350:C>T,NM_001195263.1:c.385G>A,NP_001182192.1:p.Val129Met,4/17,\N,Unknown significance,\N,missense_variant,33,0.00017331,EXAC_AMR_AF,PDZD7
201031,10:102783351:G>A,NM_001195263.1:c.384C>T,NP_001182192.1:p.Cys128=,4/17,\N,Unknown significance,\N,synonymous_variant,12.28,0.001,1KG_EAS_AF,PDZD7
201032,10:102783353:A>G,NM_001195263.1:c.382T>C,NP_001182192.1:p.Cys128Arg,4/17,\N,Unknown significance,\N,missense_variant,12.91,0.000242365,EXAC_SAS_AF,PDZD7
201033,10:102783357:G>T,NM_001195263.1:c.378C>A,NP_001182192.1:p.Gly126=,4/17,\N,Unknown significance,\N,synonymous_variant,8.304,0.0000606061,EXAC_SAS_AF,PDZD7
201034,10:102783358:C>A,NM_001195263.1:c.377G>T,NP_001182192.1:p.Gly126Val,4/17,\N,Unknown significance,\N,missense_variant,32,0.0000152054,EXAC_NFE_AF,PDZD7
201035,10:102783363:C>T,NM_001195263.1:c.372G>A,NP_001182192.1:p.Arg124=,4/17,\N,Unknown significance,\N,synonymous_variant,16.08,0.000181951,EXAC_SAS_AF,PDZD7
201036,10:102783364:C>A,NM_001195263.1:c.371G>T,NP_001182192.1:p.Arg124Leu,4/17,\N,Likely benign,\N,missense_variant,23.5,0.0000609719,EXAC_NFE_AF,PDZD7
201037,10:102783364:C>T,NM_001195263.1:c.371G>A,NP_001182192.1:p.Arg124Gln,4/17,\N,Likely benign,\N,missense_variant,23,0.000116279,EVS_EA_AF,PDZD7
201038,10:102783365:G>A,NM_001195263.1:c.370C>T,NP_001182192.1:p.Arg124Trp,4/17,\N,Benign,\N,missense_variant&splice_region_variant,26.8,0.0068,1KG_AFR_AF,PDZD7
201039,10:102783365:G>T,NM_001195263.1:c.370C>A,NP_001182192.1:p.Arg124=,4/17,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,14.66,0.0000606575,EXAC_SAS_AF,PDZD7
201040,10:102783367:T>C,NM_001195263.1:c.368A>G,NP_001182192.1:p.Glu123Gly,4/17,\N,Unknown significance,\N,missense_variant&splice_region_variant,21.7,0.0000606796,EXAC_SAS_AF,PDZD7
201041,10:102783371:C>T,NM_001195263.1:c.368-4G>A,\N,\N,3/16,Unknown significance,\N,splice_region_variant&intron_variant,3.051,0.0000458085,EXAC_NFE_AF,PDZD7
201042,10:102783372:A>G,NM_001195263.1:c.368-5T>C,\N,\N,3/16,Unknown significance,\N,splice_region_variant&intron_variant,2.029,\N,\N,PDZD7
201043,10:102783373:C>T,NM_001195263.1:c.368-6G>A,\N,\N,3/16,Unknown significance,\N,splice_region_variant&intron_variant,5.526,0.0000868508,EXAC_AMR_AF,PDZD7
201044,10:102783375:A>G,NM_001195263.1:c.368-8T>C,\N,\N,3/16,Unknown significance,\N,splice_region_variant&intron_variant,1.307,0.0000607165,EXAC_SAS_AF,PDZD7
201045,10:102783378:G>C,NM_001195263.1:c.368-11C>G,\N,\N,3/16,Unknown significance,\N,intron_variant,2.462,0.00111857,EXAC_OTH_AF,PDZD7
201046,10:102783383:G>GGAGT,NM_001195263.1:c.368-20_368-17dup,\N,\N,3/16,Unknown significance,\N,intron_variant,1.449,\N,\N,PDZD7
201047,10:102783387:T>C,NM_001195263.1:c.368-20A>G,\N,\N,3/16,Benign,\N,intron_variant,3.115,0.0106,1KG_AFR_AF,PDZD7
201048,10:102783395:A>C,NM_001195263.1:c.368-28T>G,\N,\N,3/16,Unknown significance,\N,intron_variant,4.701,0.000105086,EXAC_AFR_AF,PDZD7
201049,10:102783398:G>A,NM_001195263.1:c.368-31C>T,\N,\N,3/16,Unknown significance,\N,intron_variant,10.02,0.0000158278,EXAC_NFE_AF,PDZD7
201050,10:102783419:C>A,NM_001195263.1:c.368-52G>T,\N,\N,3/16,Unknown significance,\N,intron_variant,8.636,0.0000168447,EXAC_NFE_AF,PDZD7
201051,10:102783419:C>T,NM_001195263.1:c.368-52G>A,\N,\N,3/16,Unknown significance,\N,intron_variant,7.711,0.0000168447,EXAC_NFE_AF,PDZD7
201052,10:102783421:T>C,NM_001195263.1:c.368-54A>G,\N,\N,3/16,Benign,\N,intron_variant,4.022,0.091,1KG_SAS_AF,PDZD7
201053,10:102783437:G>GC,NM_001195263.1:c.368-71dup,\N,\N,3/16,Unknown significance,\N,intron_variant,2.168,\N,\N,PDZD7
201054,10:102783489:G>C,NM_001195263.1:c.368-122C>G,\N,\N,3/16,Unknown significance,\N,intron_variant,2.479,\N,\N,PDZD7
201055,10:102783524:C>T,NM_001195263.1:c.368-157G>A,\N,\N,3/16,Unknown significance,\N,intron_variant,11.77,0.0008,1KG_AFR_AF,PDZD7
201056,10:102783564:T>C,NM_001195263.1:c.367+121A>G,\N,\N,3/16,Unknown significance,\N,intron_variant,3.016,0.001,1KG_EUR_AF,PDZD7
201057,10:102783567:A>G,NM_001195263.1:c.367+118T>C,\N,\N,3/16,Benign,\N,intron_variant,1.433,0.0083,1KG_AFR_AF,PDZD7
201058,10:102783597:G>A,NM_001195263.1:c.367+88C>T,\N,\N,3/16,Unknown significance,\N,intron_variant,0.663,0.0014,1KG_AMR_AF,PDZD7
201059,10:102783607:G>C,NM_001195263.1:c.367+78C>G,\N,\N,3/16,Unknown significance,\N,intron_variant,9.016,0.00129556,EXAC_AMR_AF,PDZD7
201060,10:102783614:G>T,NM_001195263.1:c.367+71C>A,\N,\N,3/16,Unknown significance,\N,intron_variant,8.949,0.00110619,EXAC_OTH_AF,PDZD7
201061,10:102783615:C>T,NM_001195263.1:c.367+70G>A,\N,\N,3/16,Unknown significance,\N,intron_variant,5.626,\N,\N,PDZD7
201062,10:102783616:A>G,NM_001195263.1:c.367+69T>C,\N,\N,3/16,Unknown significance,\N,intron_variant,2.601,0.0000863707,EXAC_AMR_AF,PDZD7
201063,10:102783625:C>G,NM_001195263.1:c.367+60G>C,\N,\N,3/16,Unknown significance,\N,intron_variant,0.325,0.0000299931,EXAC_NFE_AF,PDZD7
201064,10:102783626:A>G,NM_001195263.1:c.367+59T>C,\N,\N,3/16,Unknown significance,\N,intron_variant,2.593,0.0000149952,EXAC_NFE_AF,PDZD7
201065,10:102783627:T>C,NM_001195263.1:c.367+58A>G,\N,\N,3/16,Unknown significance,\N,intron_variant,2.249,0.0000149948,EXAC_NFE_AF,PDZD7
201066,10:102783633:GA>G,NM_001195263.1:c.367+51del,\N,\N,3/16,Benign,\N,intron_variant,5.461,0.016336,EXAC_NFE_AF,PDZD7
201067,10:102783637:T>C,NM_001195263.1:c.367+48A>G,\N,\N,3/16,Unknown significance,\N,intron_variant,7.73,0.000226963,EVS_AA_AF,PDZD7
201068,10:102783639:G>T,NM_001195263.1:c.367+46C>A,\N,\N,3/16,Unknown significance,\N,intron_variant,1.734,0.0000149871,EXAC_NFE_AF,PDZD7
201069,10:102783642:G>A,NM_001195263.1:c.367+43C>T,\N,\N,3/16,Unknown significance,\N,intron_variant,8.273,0.00184886,EXAC_EAS_AF,PDZD7
201070,10:102783646:C>T,NM_001195263.1:c.367+39G>A,\N,\N,3/16,Unknown significance,\N,intron_variant,10.33,0.0000149858,EXAC_NFE_AF,PDZD7
201071,10:102783651:T>A,NM_001195263.1:c.367+34A>T,\N,\N,3/16,Unknown significance,\N,intron_variant,8.581,0.000482067,EXAC_AFR_AF,PDZD7
201072,10:102783655:C>T,NM_001195263.1:c.367+30G>A,\N,\N,3/16,Unknown significance,\N,intron_variant,7.531,0.0000749221,EXAC_NFE_AF,PDZD7
201073,10:102783656:G>A,NM_001195263.1:c.367+29C>T,\N,\N,3/16,Unknown significance,\N,intron_variant,3.928,0.001,1KG_EAS_AF,PDZD7
201074,10:102783659:G>A,NM_001195263.1:c.367+26C>T,\N,\N,3/16,Unknown significance,\N,intron_variant,5.428,0.000302389,EXAC_FIN_AF,PDZD7
201075,10:102783659:G>T,NM_001195263.1:c.367+26C>A,\N,\N,3/16,Unknown significance,\N,intron_variant,2.984,0.000345483,EXAC_AMR_AF,PDZD7
201076,10:102783660:A>T,NM_001195263.1:c.367+25T>A,\N,\N,3/16,Unknown significance,\N,intron_variant,4.546,0.0000863707,EXAC_AMR_AF,PDZD7
201077,10:102783666:G>C,NM_001195263.1:c.367+19C>G,\N,\N,3/16,Unknown significance,\N,intron_variant,0.018,0.000242248,EXAC_SAS_AF,PDZD7
201078,10:102783674:G>A,NM_001195263.1:c.367+11C>T,\N,\N,3/16,Unknown significance,\N,intron_variant,1.072,0.0000863707,EXAC_AMR_AF,PDZD7
201079,10:102783678:T>C,NM_001195263.1:c.367+7A>G,\N,\N,3/16,Benign,\N,splice_region_variant&intron_variant,0.285,0.8381,1KG_AFR_AF,PDZD7
201080,10:102783686:T>C,NM_001195263.1:c.366A>G,NP_001182192.1:p.Ala122=,3/17,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,10.64,0.0000863707,EXAC_AMR_AF,PDZD7
201081,10:102783688:C>T,NM_001195263.1:c.364G>A,NP_001182192.1:p.Ala122Thr,3/17,\N,Unknown significance,\N,missense_variant,29.2,0.000014984,EXAC_NFE_AF,PDZD7
201082,10:102783689:A>G,NM_001195263.1:c.363T>C,NP_001182192.1:p.Ser121=,3/17,\N,Unknown significance,\N,synonymous_variant,0.936,\N,\N,PDZD7
201083,10:102783705:A>G,NM_001195263.1:c.347T>C,NP_001182192.1:p.Val116Ala,3/17,\N,Unknown significance,\N,missense_variant,24.3,0.001,1KG_SAS_AF,PDZD7
201084,10:102783715:C>T,NM_001195263.1:c.337G>A,NP_001182192.1:p.Val113Ile,3/17,\N,Unknown significance,\N,missense_variant,27.1,0.001,1KG_SAS_AF,PDZD7
201085,10:102783716:G>A,NM_001195263.1:c.336C>T,NP_001182192.1:p.Phe112=,3/17,\N,Unknown significance,\N,synonymous_variant,14.38,0.000164824,EXAC_NFE_AF,PDZD7
201086,10:102783719:G>A,NM_001195263.1:c.333C>T,NP_001182192.1:p.Ile111=,3/17,\N,Unknown significance,\N,synonymous_variant,14.05,0.000115554,EXAC_EAS_AF,PDZD7
201087,10:102783728:G>A,NM_001195263.1:c.324C>T,NP_001182192.1:p.Gly108=,3/17,\N,Unknown significance,\N,synonymous_variant,13.42,0.00363141,EVS_AA_AF,PDZD7
201088,10:102783731:A>G,NM_001195263.1:c.321T>C,NP_001182192.1:p.His107=,3/17,\N,Unknown significance,\N,synonymous_variant,7.397,0.000226963,EVS_AA_AF,PDZD7
201089,10:102783733:G>A,NM_001195263.1:c.319C>T,NP_001182192.1:p.His107Tyr,3/17,\N,Unknown significance,\N,missense_variant,27.9,\N,\N,PDZD7
201090,10:102783734:C>T,NM_001195263.1:c.318G>A,NP_001182192.1:p.Glu106=,3/17,\N,Unknown significance,\N,synonymous_variant,14.34,0.0000149858,EXAC_NFE_AF,PDZD7
201091,10:102783740:G>T,NM_001195263.1:c.312C>A,NP_001182192.1:p.Gly104=,3/17,\N,Unknown significance,\N,synonymous_variant,9.069,0.000259157,EXAC_AMR_AF,PDZD7
201092,10:102783741:C>A,NM_001195263.1:c.311G>T,NP_001182192.1:p.Gly104Val,3/17,\N,Unknown significance,\N,missense_variant,32,0.0000149858,EXAC_NFE_AF,PDZD7
201093,10:102783743:C>T,NM_001195263.1:c.309G>A,NP_001182192.1:p.Gly103=,3/17,\N,Unknown significance,\N,synonymous_variant,13.68,0.000134872,EXAC_NFE_AF,PDZD7
201094,10:102783745:C>A,NM_001195263.1:c.307G>T,NP_001182192.1:p.Gly103Trp,3/17,\N,Unknown significance,\N,missense_variant,34,0.0000299733,EXAC_NFE_AF,PDZD7
201095,10:102783745:C>G,NM_001195263.1:c.307G>C,NP_001182192.1:p.Gly103Arg,3/17,\N,Pathogenic,Hearing loss| non-syndromic| autosomal recessive,missense_variant,32,0.000116279,EVS_EA_AF,PDZD7
201096,10:102783745:C>T,NM_001195263.1:c.307G>A,NP_001182192.1:p.Gly103Arg,3/17,\N,Unknown significance,\N,missense_variant,33,0.0008,1KG_AFR_AF,PDZD7
201097,10:102783746:G>A,NM_001195263.1:c.306C>T,NP_001182192.1:p.Arg102=,3/17,\N,Likely benign,\N,synonymous_variant,11.02,0.000226963,EVS_AA_AF,PDZD7
201098,10:102783747:C>T,NM_001195263.1:c.305G>A,NP_001182192.1:p.Arg102His,3/17,\N,Unknown significance,\N,missense_variant,34,0.000060562,EXAC_SAS_AF,PDZD7
201099,10:102783748:G>A,NM_001195263.1:c.304C>T,NP_001182192.1:p.Arg102Cys,3/17,\N,Unknown significance,\N,missense_variant,32,0.0000149858,EXAC_NFE_AF,PDZD7
201100,10:102783751:C>T,NM_001195263.1:c.301G>A,NP_001182192.1:p.Val101Met,3/17,\N,Unknown significance,\N,missense_variant,33,0.000115554,EXAC_EAS_AF,PDZD7
201101,10:102783757:A>G,NM_001195263.1:c.295T>C,NP_001182192.1:p.Phe99Leu,3/17,\N,Unknown significance,\N,missense_variant,29.5,0.000060562,EXAC_SAS_AF,PDZD7
201102,10:102783758:G>A,NM_001195263.1:c.294C>T,NP_001182192.1:p.Gly98=,3/17,\N,Unknown significance,\N,synonymous_variant,11.38,0.000226963,EVS_AA_AF,PDZD7
201103,10:102783760:C>T,NM_001195263.1:c.292G>A,NP_001182192.1:p.Gly98Ser,3/17,\N,Unknown significance,\N,missense_variant,33,0.00013488,EXAC_NFE_AF,PDZD7
201104,10:102783765:C>A,NM_001195263.1:c.287G>T,NP_001182192.1:p.Arg96Met,3/17,\N,Unknown significance,\N,missense_variant,29.6,0.00110132,EXAC_OTH_AF,PDZD7
201105,10:102783768:C>T,NM_001195263.1:c.284G>A,NP_001182192.1:p.Gly95Glu,3/17,\N,Unknown significance,\N,missense_variant,32,0.0008,1KG_AFR_AF,PDZD7
201106,10:102783769:C>A,NM_001195263.1:c.283G>T,NP_001182192.1:p.Gly95Trp,3/17,\N,Unknown significance,\N,missense_variant,34,\N,\N,PDZD7
201107,10:102783771:G>A,NM_001195263.1:c.281C>T,NP_001182192.1:p.Ala94Val,3/17,\N,Unknown significance,\N,missense_variant,20.7,0.0000149894,EXAC_NFE_AF,PDZD7
201108,10:102783774:G>A,NM_001195263.1:c.278C>T,NP_001182192.1:p.Pro93Leu,3/17,\N,Unknown significance,\N,missense_variant,19.16,0.000345602,EXAC_AMR_AF,PDZD7
201109,10:102783774:G>T,NM_001195263.1:c.278C>A,NP_001182192.1:p.Pro93Gln,3/17,\N,Likely benign,\N,missense_variant,14.05,0.0000961908,EXAC_AFR_AF,PDZD7
201110,10:102783777:C>T,NM_024895.4:c.275G>A,NP_079171.1:p.Ser92Asn,3/10,\N,Unknown significance,\N,missense_variant,17.88,0.000453583,EXAC_FIN_AF,PDZD7
201111,10:102783780:T>C,NM_001195263.1:c.272A>G,NP_001182192.1:p.Lys91Arg,3/17,\N,Unknown significance,\N,missense_variant,23.6,0.0000299823,EXAC_NFE_AF,PDZD7
201112,10:102783781:T>TCTCCACC,NM_001195263.1:c.264_270dup,NP_001182192.1:p.Lys91GlyfsTer60,3/17,\N,Unknown significance,\N,frameshift_variant,34,\N,\N,PDZD7
201113,10:102783785:C>T,NM_001195263.1:c.267G>A,NP_001182192.1:p.Val89=,3/17,\N,Unknown significance,\N,synonymous_variant,14.17,0.0008,1KG_AFR_AF,PDZD7
201114,10:102783790:G>A,NM_001195263.1:c.262C>T,NP_001182192.1:p.Arg88Trp,3/17,\N,Unknown significance,\N,missense_variant,32,0.0000864155,EXAC_AMR_AF,PDZD7
201115,10:102783795:G>A,NM_001195263.1:c.257C>T,NP_001182192.1:p.Ser86Leu,3/17,\N,Unknown significance,\N,missense_variant,24.7,0.0000864155,EXAC_AMR_AF,PDZD7
201116,10:102783797:A>G,NM_001195263.1:c.255T>C,NP_001182192.1:p.His85=,3/17,\N,Unknown significance,\N,synonymous_variant,4.921,0.000116279,EVS_EA_AF,PDZD7
201117,10:102783801:A>AG,NM_001195263.1:c.250_251insC,NP_001182192.1:p.Ile84ThrfsTer65,3/17,\N,Unknown significance,\N,frameshift_variant,32,0.0000300084,EXAC_NFE_AF,PDZD7
201118,10:102783801:A>T,NM_001195263.1:c.251T>A,NP_001182192.1:p.Ile84Asn,3/17,\N,Unknown significance,\N,missense_variant,28.3,0.0000864304,EXAC_AMR_AF,PDZD7
201119,10:102783808:C>T,NM_001195263.1:c.244G>A,NP_001182192.1:p.Asp82Asn,3/17,\N,Unknown significance,\N,missense_variant,33,0.0029,1KG_AMR_AF,PDZD7
201120,10:102783819:C>T,NM_001195263.1:c.233G>A,NP_001182192.1:p.Ser78Asn,3/17,\N,Unknown significance,\N,missense_variant,22.8,0.0000606281,EXAC_SAS_AF,PDZD7
201121,10:102783838:G>C,NM_001195263.1:c.227-13C>G,\N,\N,2/16,Unknown significance,\N,intron_variant,0.936,0.0000150902,EXAC_NFE_AF,PDZD7
201122,10:102783838:G>T,NM_001195263.1:c.227-13C>A,\N,\N,2/16,Unknown significance,\N,intron_variant,1.527,0.0000866101,EXAC_AMR_AF,PDZD7
201123,10:102783852:C>T,NM_001195263.1:c.227-27G>A,\N,\N,2/16,Unknown significance,\N,intron_variant,5.66,0.000115929,EXAC_EAS_AF,PDZD7
201124,10:102783856:A>G,NM_001195263.1:c.227-31T>C,\N,\N,2/16,Unknown significance,\N,intron_variant,5.151,0.0000606943,EXAC_SAS_AF,PDZD7
201125,10:102783857:T>C,NM_001195263.1:c.227-32A>G,\N,\N,2/16,Unknown significance,\N,intron_variant,2.666,\N,\N,PDZD7
201126,10:102783863:T>C,NM_001195263.1:c.227-38A>G,\N,\N,2/16,Unknown significance,\N,intron_variant,0.663,0.000197824,EXAC_AFR_AF,PDZD7
201127,10:102783875:A>G,NM_001195263.1:c.227-50T>C,\N,\N,2/16,Unknown significance,\N,intron_variant,3.129,0.0000152555,EXAC_NFE_AF,PDZD7
201128,10:102783877:G>T,NM_001195263.1:c.227-52C>A,\N,\N,2/16,Unknown significance,\N,intron_variant,3.173,0.0000305166,EXAC_NFE_AF,PDZD7
201129,10:102783895:C>T,NM_001195263.1:c.227-70G>A,\N,\N,2/16,Unknown significance,\N,intron_variant,13.13,0.0045,1KG_AFR_AF,PDZD7
201130,10:102783925:C>G,NM_001195263.1:c.227-100G>C,\N,\N,2/16,Unknown significance,\N,intron_variant,13.37,\N,\N,PDZD7
201131,10:102783938:G>C,NM_001195263.1:c.227-113C>G,\N,\N,2/16,Unknown significance,\N,intron_variant,9.235,\N,\N,PDZD7
201132,10:102783941:C>T,NM_001195263.1:c.227-116G>A,\N,\N,2/16,Unknown significance,\N,intron_variant,1.145,0.002,1KG_SAS_AF,PDZD7
201133,10:102783942:G>A,NM_001195263.1:c.227-117C>T,\N,\N,2/16,Unknown significance,\N,intron_variant,0.207,0.001,1KG_EAS_AF,PDZD7
201134,10:102783955:T>C,NM_001195263.1:c.227-130A>G,\N,\N,2/16,Benign,\N,intron_variant,1.967,0.5212,1KG_AFR_AF,PDZD7
201135,10:102783956:G>A,NM_001195263.1:c.227-131C>T,\N,\N,2/16,Unknown significance,\N,intron_variant,4.553,0.001,1KG_SAS_AF,PDZD7
201136,10:102783962:G>T,NM_001195263.1:c.227-137C>A,\N,\N,2/16,Unknown significance,\N,intron_variant,0.478,\N,\N,PDZD7
201137,10:102783987:C>T,NM_001195263.1:c.227-162G>A,\N,\N,2/16,Unknown significance,\N,intron_variant,4.505,0.0014,1KG_AMR_AF,PDZD7
201138,10:102784026:G>C,NM_001195263.1:c.227-201C>G,\N,\N,2/16,Unknown significance,\N,intron_variant,0.91,\N,\N,PDZD7
201139,10:102784097:C>T,NM_001195263.1:c.227-272G>A,\N,\N,2/16,Unknown significance,\N,intron_variant,3.383,0.002,1KG_EUR_AF,PDZD7
201140,10:102784102:G>C,NM_001195263.1:c.227-277C>G,\N,\N,2/16,Benign,\N,intron_variant,0.284,0.091,1KG_SAS_AF,PDZD7
201141,10:102784105:A>G,NM_001195263.1:c.227-280T>C,\N,\N,2/16,Benign,\N,intron_variant,1.832,0.0188,1KG_EAS_AF,PDZD7
201142,10:102784151:C>T,NM_001195263.1:c.227-326G>A,\N,\N,2/16,Unknown significance,\N,intron_variant,2.025,0.0008,1KG_AFR_AF,PDZD7
201143,10:102784173:A>G,NM_001195263.1:c.227-348T>C,\N,\N,2/16,Unknown significance,\N,intron_variant,2.366,\N,\N,PDZD7
201144,10:102784185:G>C,NM_001195263.1:c.227-360C>G,\N,\N,2/16,Unknown significance,\N,intron_variant,5.179,\N,\N,PDZD7
201145,10:102784209:C>T,NM_001195263.1:c.227-384G>A,\N,\N,2/16,Benign,\N,intron_variant,3.596,0.0072,1KG_SAS_AF,PDZD7
201146,10:102784218:C>CT,NM_001195263.1:c.227-394_227-393insA,\N,\N,2/16,Benign,\N,intron_variant,1.396,0.6899,1KG_AFR_AF,PDZD7
201147,10:102784218:C>G,NM_001195263.1:c.227-393G>C,\N,\N,2/16,Unknown significance,\N,intron_variant,0.221,\N,\N,PDZD7
201148,10:102784281:T>C,NM_001195263.1:c.227-456A>G,\N,\N,2/16,Benign,\N,intron_variant,1.262,0.0053,1KG_AFR_AF,PDZD7
201149,10:102784286:C>T,NM_001195263.1:c.227-461G>A,\N,\N,2/16,Unknown significance,\N,intron_variant,1.839,0.002,1KG_EUR_AF,PDZD7
201150,10:102784411:G>A,NM_001195263.1:c.227-586C>T,\N,\N,2/16,Unknown significance,\N,intron_variant,2.864,\N,\N,PDZD7
201151,10:102784502:G>A,NM_001195263.1:c.227-677C>T,\N,\N,2/16,Benign,\N,intron_variant,8.615,0.013,1KG_AMR_AF,PDZD7
201152,10:102784520:CCT>C,NM_001195263.1:c.227-697_227-696del,\N,\N,2/16,Benign,\N,intron_variant,5.338,0.0136,1KG_AFR_AF,PDZD7
201153,10:102784527:C>CA,NM_001195263.1:c.227-703dup,\N,\N,2/16,Benign,\N,intron_variant,5.306,0.0491,1KG_SAS_AF,PDZD7
201154,10:102784527:CA>C,NM_001195263.1:c.227-703del,\N,\N,2/16,Benign,\N,intron_variant,2.702,0.0741,1KG_AFR_AF,PDZD7
201155,10:102784592:A>ATG,NM_001195263.1:c.227-769_227-768dup,\N,\N,2/16,Unknown significance,\N,intron_variant,0.103,\N,\N,PDZD7
201156,10:102784592:ATG>A,NM_001195263.1:c.227-769_227-768del,\N,\N,2/16,Unknown significance,\N,intron_variant,4.46,\N,\N,PDZD7
201157,10:102784592:ATGTG>A,NM_001195263.1:c.227-771_227-768del,\N,\N,2/16,Unknown significance,\N,intron_variant,4.124,\N,\N,PDZD7
201158,10:102784592:ATGTGTG>A,NM_001195263.1:c.227-773_227-768del,\N,\N,2/16,Unknown significance,\N,intron_variant,3.8,\N,\N,PDZD7
201159,10:102784598:G>A,NM_001195263.1:c.227-773C>T,\N,\N,2/16,Unknown significance,\N,intron_variant,2.058,\N,\N,PDZD7
201160,10:102784608:G>A,NM_001195263.1:c.227-783C>T,\N,\N,2/16,Unknown significance,\N,intron_variant,1.808,0.0014,1KG_AMR_AF,PDZD7
201161,10:102784719:G>T,NM_001195263.1:c.227-894C>A,\N,\N,2/16,Unknown significance,\N,intron_variant,0.064,\N,\N,PDZD7
201162,10:102784726:A>G,NM_001195263.1:c.227-901T>C,\N,\N,2/16,Benign,\N,intron_variant,1.957,0.0076,1KG_AFR_AF,PDZD7
201163,10:102784753:G>A,NM_001195263.1:c.227-928C>T,\N,\N,2/16,Unknown significance,\N,intron_variant,2.349,\N,\N,PDZD7
201164,10:102784783:T>C,NM_001195263.1:c.227-958A>G,\N,\N,2/16,Unknown significance,\N,intron_variant,6.583,0.0045,1KG_AFR_AF,PDZD7
201165,10:102784799:A>G,NM_001195263.1:c.227-974T>C,\N,\N,2/16,Unknown significance,\N,intron_variant,7.28,0.001,1KG_EUR_AF,PDZD7
201166,10:102784809:G>A,NM_001195263.1:c.227-984C>T,\N,\N,2/16,Unknown significance,\N,intron_variant,3.062,\N,\N,PDZD7
201167,10:102784834:C>T,NM_001195263.1:c.227-1009G>A,\N,\N,2/16,Unknown significance,\N,intron_variant,4.505,0.002,1KG_EAS_AF,PDZD7
201168,10:102784866:T>C,NM_001195263.1:c.227-1041A>G,\N,\N,2/16,Unknown significance,\N,intron_variant,0.209,\N,\N,PDZD7
201169,10:102784889:C>T,NM_001195263.1:c.227-1064G>A,\N,\N,2/16,Unknown significance,\N,intron_variant,0.296,\N,\N,PDZD7
201170,10:102784898:TAGAC>T,NM_001195263.1:c.227-1077_227-1074del,\N,\N,2/16,Unknown significance,\N,intron_variant,\N,\N,\N,PDZD7
201171,10:102784926:A>G,NM_001195263.1:c.227-1101T>C,\N,\N,2/16,Unknown significance,\N,intron_variant,14.08,0.004,1KG_EUR_AF,PDZD7
201172,10:102784950:G>A,NM_001195263.1:c.227-1125C>T,\N,\N,2/16,Unknown significance,\N,intron_variant,4.915,\N,\N,PDZD7
201173,10:102784971:CT>C,NM_001195263.1:c.227-1147del,\N,\N,2/16,Unknown significance,\N,intron_variant,5.44,\N,\N,PDZD7
201174,10:102784979:T>A,NM_001195263.1:c.227-1154A>T,\N,\N,2/16,Unknown significance,\N,intron_variant,2.7,\N,\N,PDZD7
201175,10:102784979:T>C,NM_001195263.1:c.227-1154A>G,\N,\N,2/16,Unknown significance,\N,intron_variant,0.905,0.0008,1KG_AFR_AF,PDZD7
201176,10:102784995:C>T,NM_001195263.1:c.227-1170G>A,\N,\N,2/16,Unknown significance,\N,intron_variant,4.211,\N,\N,PDZD7
201177,10:102785005:C>T,NM_001195263.1:c.227-1180G>A,\N,\N,2/16,Unknown significance,\N,intron_variant,0.467,0.0015,1KG_AFR_AF,PDZD7
201178,10:102785006:G>A,NM_001195263.1:c.227-1181C>T,\N,\N,2/16,Unknown significance,\N,intron_variant,0.21,\N,\N,PDZD7
201179,10:102785020:G>A,NM_001195263.1:c.227-1195C>T,\N,\N,2/16,Unknown significance,\N,intron_variant,2.685,\N,\N,PDZD7
201180,10:102785030:A>G,NM_001195263.1:c.227-1205T>C,\N,\N,2/16,Unknown significance,\N,intron_variant,0.055,0.001,1KG_EUR_AF,PDZD7
201181,10:102785035:C>T,NM_001195263.1:c.227-1210G>A,\N,\N,2/16,Benign,\N,intron_variant,1.1,0.0099,1KG_EUR_AF,PDZD7
201182,10:102785049:T>C,NM_001195263.1:c.227-1224A>G,\N,\N,2/16,Benign,\N,intron_variant,1.292,0.7171,1KG_AFR_AF,PDZD7
201183,10:102785070:G>A,NM_001195263.1:c.227-1245C>T,\N,\N,2/16,Unknown significance,\N,intron_variant,2.09,0.001,1KG_EAS_AF|1KG_SAS_AF,PDZD7
201184,10:102785072:T>C,NM_001195263.1:c.227-1247A>G,\N,\N,2/16,Unknown significance,\N,intron_variant,1.684,\N,\N,PDZD7
201185,10:102785152:A>C,NM_001195263.1:c.227-1327T>G,\N,\N,2/16,Unknown significance,\N,intron_variant,0.897,\N,\N,PDZD7
201186,10:102785168:T>C,NM_001195263.1:c.227-1343A>G,\N,\N,2/16,Unknown significance,\N,intron_variant,1.417,\N,\N,PDZD7
201187,10:102785174:C>A,NM_001195263.1:c.227-1349G>T,\N,\N,2/16,Unknown significance,\N,intron_variant,3.886,\N,\N,PDZD7
201188,10:102785207:C>T,NM_001195263.1:c.227-1382G>A,\N,\N,2/16,Unknown significance,\N,intron_variant,1.05,\N,\N,PDZD7
201189,10:102785262:C>T,NM_001195263.1:c.227-1437G>A,\N,\N,2/16,Unknown significance,\N,intron_variant,3.046,0.0023,1KG_AFR_AF,PDZD7
201190,10:102785279:T>TATTA,NM_001195263.1:c.227-1455_227-1454insTAAT,\N,\N,2/16,Benign,\N,intron_variant,6.339,0.0069,1KG_EAS_AF,PDZD7
201191,10:102785279:T>TTTTA,NM_001195263.1:c.227-1458_227-1455dup,\N,\N,2/16,Unknown significance,\N,intron_variant,6.339,\N,\N,PDZD7
201192,10:102785279:TTTTA>T,NM_001195263.1:c.227-1458_227-1455del,\N,\N,2/16,Benign,\N,intron_variant,9.843,0.2153,1KG_EAS_AF,PDZD7
201193,10:102785279:TTTTATTTATTTA>T,NM_001195263.1:c.227-1466_227-1455del,\N,\N,2/16,Unknown significance,\N,intron_variant,9.48,0.0014,1KG_AMR_AF,PDZD7
201194,10:102785280:T>A,NM_001195263.1:c.227-1455A>T,\N,\N,2/16,Unknown significance,\N,intron_variant,10.49,0.0015,1KG_AFR_AF,PDZD7
201195,10:102785287:A>AATTT,NM_001195263.1:c.227-1463_227-1462insAAAT,\N,\N,2/16,Unknown significance,\N,intron_variant,\N,\N,\N,PDZD7
201196,10:102785304:T>C,NM_001195263.1:c.227-1479A>G,\N,\N,2/16,Unknown significance,\N,intron_variant,6.65,\N,\N,PDZD7
201197,10:102785315:A>ATTTG,NM_001195263.1:c.227-1491_227-1490insCAAA,\N,\N,2/16,Benign,\N,intron_variant,2.083,0.0058,1KG_AMR_AF,PDZD7
201198,10:102785315:A>G,NM_001195263.1:c.227-1490T>C,\N,\N,2/16,Benign,\N,intron_variant,7.385,0.0204,1KG_AFR_AF,PDZD7
201199,10:102785321:C>T,NM_001195263.1:c.227-1496G>A,\N,\N,2/16,Unknown significance,\N,intron_variant,0.307,\N,\N,PDZD7
201200,10:102785335:C>T,NM_001195263.1:c.227-1510G>A,\N,\N,2/16,Unknown significance,\N,intron_variant,0.137,\N,\N,PDZD7
201201,10:102785343:C>T,NM_001195263.1:c.227-1518G>A,\N,\N,2/16,Benign,\N,intron_variant,1.679,0.0333,1KG_AFR_AF,PDZD7
201202,10:102785367:C>T,NM_001195263.1:c.227-1542G>A,\N,\N,2/16,Benign,\N,intron_variant,0.084,0.0982,1KG_EAS_AF,PDZD7
201203,10:102785391:A>G,NM_001195263.1:c.227-1566T>C,\N,\N,2/16,Unknown significance,\N,intron_variant,5.294,\N,\N,PDZD7
201204,10:102785406:G>A,NM_001195263.1:c.227-1581C>T,\N,\N,2/16,Benign,\N,intron_variant,1.35,0.0308,1KG_EUR_AF,PDZD7
201205,10:102785408:T>C,NM_001195263.1:c.227-1583A>G,\N,\N,2/16,Benign,\N,intron_variant,1.402,0.006,1KG_EAS_AF,PDZD7
201206,10:102785433:T>G,NM_001195263.1:c.227-1608A>C,\N,\N,2/16,Unknown significance,\N,intron_variant,6.163,0.001,1KG_EUR_AF,PDZD7
201207,10:102785449:C>T,NM_001195263.1:c.227-1624G>A,\N,\N,2/16,Unknown significance,\N,intron_variant,3.202,0.001,1KG_EAS_AF|1KG_SAS_AF,PDZD7
201208,10:102785450:G>T,NM_001195263.1:c.227-1625C>A,\N,\N,2/16,Unknown significance,\N,intron_variant,0.853,0.0008,1KG_AFR_AF,PDZD7
201209,10:102785454:A>G,NM_001195263.1:c.227-1629T>C,\N,\N,2/16,Unknown significance,\N,intron_variant,1.102,\N,\N,PDZD7
201210,10:102785465:C>T,NM_001195263.1:c.227-1640G>A,\N,\N,2/16,Unknown significance,\N,intron_variant,1.433,0.001,1KG_EAS_AF,PDZD7
201211,10:102785466:G>A,NM_001195263.1:c.227-1641C>T,\N,\N,2/16,Unknown significance,\N,intron_variant,0.145,0.001,1KG_SAS_AF,PDZD7
201212,10:102785487:G>A,NM_001195263.1:c.227-1662C>T,\N,\N,2/16,Unknown significance,\N,intron_variant,1.263,0.001,1KG_EAS_AF,PDZD7
201213,10:102785497:G>A,NM_001195263.1:c.227-1672C>T,\N,\N,2/16,Benign,\N,intron_variant,0.177,0.0068,1KG_AFR_AF,PDZD7
201214,10:102785500:T>C,NM_001195263.1:c.227-1675A>G,\N,\N,2/16,Unknown significance,\N,intron_variant,1.153,\N,\N,PDZD7
201215,10:102785505:C>T,NM_001195263.1:c.227-1680G>A,\N,\N,2/16,Unknown significance,\N,intron_variant,0.128,0.0023,1KG_AFR_AF,PDZD7
201216,10:102785511:G>A,NM_001195263.1:c.227-1686C>T,\N,\N,2/16,Benign,\N,intron_variant,2.982,0.0061,1KG_AFR_AF,PDZD7
201217,10:102785520:T>G,NM_001195263.1:c.227-1695A>C,\N,\N,2/16,Benign,\N,intron_variant,5.244,0.0061,1KG_AFR_AF,PDZD7
201218,10:102785523:T>C,NM_001195263.1:c.227-1698A>G,\N,\N,2/16,Unknown significance,\N,intron_variant,3.346,0.002,1KG_EAS_AF,PDZD7
201219,10:102785525:T>C,NM_001195263.1:c.227-1700A>G,\N,\N,2/16,Unknown significance,\N,intron_variant,3.468,\N,\N,PDZD7
201220,10:102785536:C>G,NM_001195263.1:c.227-1711G>C,\N,\N,2/16,Unknown significance,\N,intron_variant,1.904,\N,\N,PDZD7
201221,10:102785546:T>C,NM_001195263.1:c.227-1721A>G,\N,\N,2/16,Benign,\N,intron_variant,0.823,0.7496,1KG_AFR_AF,PDZD7
201222,10:102785546:TG>CC,NM_001195263.1:c.227-1722_227-1721delinsGG,\N,\N,2/16,Unknown significance,\N,intron_variant,\N,\N,\N,PDZD7
201223,10:102785547:G>A,NM_001195263.1:c.227-1722C>T,\N,\N,2/16,Unknown significance,\N,intron_variant,1.674,\N,\N,PDZD7
201224,10:102785547:G>C,NM_001195263.1:c.227-1722C>G,\N,\N,2/16,Benign,\N,intron_variant,0.364,0.1082,1KG_AFR_AF,PDZD7
201225,10:102785551:G>A,NM_001195263.1:c.227-1726C>T,\N,\N,2/16,Benign,\N,intron_variant,0.082,0.0129,1KG_EUR_AF,PDZD7
201226,10:102785563:T>C,NM_001195263.1:c.227-1738A>G,\N,\N,2/16,Unknown significance,\N,intron_variant,0.083,0.002,1KG_EAS_AF,PDZD7
201227,10:102785584:G>A,NM_001195263.1:c.227-1759C>T,\N,\N,2/16,Unknown significance,\N,intron_variant,1.414,0.001,1KG_SAS_AF,PDZD7
201228,10:102785586:G>A,NM_001195263.1:c.227-1761C>T,\N,\N,2/16,Unknown significance,\N,intron_variant,2.041,\N,\N,PDZD7
201229,10:102785586:G>C,NM_001195263.1:c.227-1761C>G,\N,\N,2/16,Unknown significance,\N,intron_variant,0.355,0.001,1KG_SAS_AF,PDZD7
201230,10:102785594:A>G,NM_001195263.1:c.227-1769T>C,\N,\N,2/16,Benign,\N,intron_variant,2.672,0.0092,1KG_SAS_AF,PDZD7
201231,10:102785596:A>G,NM_001195263.1:c.227-1771T>C,\N,\N,2/16,Unknown significance,\N,intron_variant,1.51,0.002,1KG_EAS_AF|1KG_SAS_AF,PDZD7
201232,10:102785599:C>T,NM_001195263.1:c.227-1774G>A,\N,\N,2/16,Unknown significance,\N,intron_variant,0.077,\N,\N,PDZD7
201233,10:102785600:G>A,NM_001195263.1:c.227-1775C>T,\N,\N,2/16,Benign,\N,intron_variant,1.054,0.0265,1KG_AFR_AF,PDZD7
201234,10:102785615:T>C,NM_001195263.1:c.227-1790A>G,\N,\N,2/16,Unknown significance,\N,intron_variant,0.711,0.001,1KG_EAS_AF,PDZD7
201235,10:102785637:C>T,NM_001195263.1:c.227-1812G>A,\N,\N,2/16,Benign,\N,intron_variant,8.63,0.1051,1KG_AFR_AF,PDZD7
201236,10:102785649:G>C,NM_001195263.1:c.227-1824C>G,\N,\N,2/16,Unknown significance,\N,intron_variant,10.74,0.0008,1KG_AFR_AF,PDZD7
201237,10:102785671:G>A,NM_001195263.1:c.227-1846C>T,\N,\N,2/16,Unknown significance,\N,intron_variant,3.291,0.0008,1KG_AFR_AF,PDZD7
201238,10:102785694:T>C,NM_001195263.1:c.227-1869A>G,\N,\N,2/16,Unknown significance,\N,intron_variant,11.4,\N,\N,PDZD7
201239,10:102785707:G>T,NM_001195263.1:c.227-1882C>A,\N,\N,2/16,Unknown significance,\N,intron_variant,0.081,0.0023,1KG_AFR_AF,PDZD7
201240,10:102785713:C>T,NM_001195263.1:c.227-1888G>A,\N,\N,2/16,Unknown significance,\N,intron_variant,1.702,0.0014,1KG_AMR_AF,PDZD7
201241,10:102785748:G>C,NM_001195263.1:c.227-1923C>G,\N,\N,2/16,Unknown significance,\N,intron_variant,0.218,\N,\N,PDZD7
201242,10:102785762:C>T,NM_001195263.1:c.227-1937G>A,\N,\N,2/16,Unknown significance,\N,intron_variant,0.18,\N,\N,PDZD7
201243,10:102785771:A>C,NM_001195263.1:c.227-1946T>G,\N,\N,2/16,Benign,\N,intron_variant,0.314,0.7557,1KG_AFR_AF,PDZD7
201244,10:102785772:A>G,NM_001195263.1:c.227-1947T>C,\N,\N,2/16,Unknown significance,\N,intron_variant,0.974,\N,\N,PDZD7
201245,10:102785782:A>G,NM_001195263.1:c.227-1957T>C,\N,\N,2/16,Unknown significance,\N,intron_variant,3.106,0.0014,1KG_AMR_AF,PDZD7
201246,10:102785808:C>T,NM_001195263.1:c.227-1983G>A,\N,\N,2/16,Benign,\N,intron_variant,0.505,0.0953,1KG_AFR_AF,PDZD7
201247,10:102785838:C>T,NM_001195263.1:c.227-2013G>A,\N,\N,2/16,Unknown significance,\N,intron_variant,1.895,\N,\N,PDZD7
201248,10:102785874:G>A,NM_001195263.1:c.227-2049C>T,\N,\N,2/16,Unknown significance,\N,intron_variant,3.815,0.0008,1KG_AFR_AF,PDZD7
201249,10:102785912:G>C,NM_001195263.1:c.227-2087C>G,\N,\N,2/16,Unknown significance,\N,intron_variant,0.04,0.002,1KG_SAS_AF,PDZD7
201250,10:102785914:C>T,NM_001195263.1:c.227-2089G>A,\N,\N,2/16,Unknown significance,\N,intron_variant,0.241,\N,\N,PDZD7
201251,10:102785915:G>A,NM_001195263.1:c.227-2090C>T,\N,\N,2/16,Unknown significance,\N,intron_variant,0.257,0.001,1KG_SAS_AF,PDZD7
201252,10:102785922:C>G,NM_001195263.1:c.227-2097G>C,\N,\N,2/16,Unknown significance,\N,intron_variant,0.113,\N,\N,PDZD7
201253,10:102785926:T>C,NM_001195263.1:c.227-2101A>G,\N,\N,2/16,Unknown significance,\N,intron_variant,0.181,0.001,1KG_EAS_AF,PDZD7
201254,10:102785930:C>T,NM_001195263.1:c.227-2105G>A,\N,\N,2/16,Unknown significance,\N,intron_variant,1.681,\N,\N,PDZD7
201255,10:102785953:T>C,NM_001195263.1:c.227-2128A>G,\N,\N,2/16,Unknown significance,\N,intron_variant,0.177,0.001,1KG_EUR_AF,PDZD7
201256,10:102785956:A>G,NM_001195263.1:c.227-2131T>C,\N,\N,2/16,Unknown significance,\N,intron_variant,1.388,\N,\N,PDZD7
201257,10:102786050:C>T,NM_001195263.1:c.227-2225G>A,\N,\N,2/16,Unknown significance,\N,intron_variant,1.742,0.0008,1KG_AFR_AF,PDZD7
201258,10:102786051:C>T,NM_001195263.1:c.227-2226G>A,\N,\N,2/16,Benign,\N,intron_variant,0.051,0.0235,1KG_SAS_AF,PDZD7
201259,10:102786052:G>A,NM_001195263.1:c.227-2227C>T,\N,\N,2/16,Unknown significance,\N,intron_variant,0.016,\N,\N,PDZD7
201260,10:102786064:G>A,NM_001195263.1:c.227-2239C>T,\N,\N,2/16,Unknown significance,\N,intron_variant,0.856,\N,\N,PDZD7
201261,10:102786068:T>C,NM_001195263.1:c.227-2243A>G,\N,\N,2/16,Unknown significance,\N,intron_variant,0.861,0.0014,1KG_AMR_AF,PDZD7
201262,10:102786111:C>T,NM_001195263.1:c.227-2286G>A,\N,\N,2/16,Unknown significance,\N,intron_variant,0.047,0.0008,1KG_AFR_AF,PDZD7
201263,10:102786125:C>G,NM_001195263.1:c.227-2300G>C,\N,\N,2/16,Unknown significance,\N,intron_variant,1.115,0.0008,1KG_AFR_AF,PDZD7
201264,10:102786135:A>G,NM_001195263.1:c.227-2310T>C,\N,\N,2/16,Unknown significance,\N,intron_variant,0.101,0.0014,1KG_AMR_AF,PDZD7
201265,10:102786138:T>C,NM_001195263.1:c.227-2313A>G,\N,\N,2/16,Unknown significance,\N,intron_variant,0.803,0.0014,1KG_AMR_AF,PDZD7
201266,10:102786143:C>T,NM_001195263.1:c.227-2318G>A,\N,\N,2/16,Unknown significance,\N,intron_variant,1.515,0.0014,1KG_AMR_AF,PDZD7
201267,10:102786144:G>A,NM_001195263.1:c.227-2319C>T,\N,\N,2/16,Unknown significance,\N,intron_variant,0.228,0.001,1KG_SAS_AF,PDZD7
201268,10:102786151:C>T,NM_001195263.1:c.227-2326G>A,\N,\N,2/16,Unknown significance,\N,intron_variant,2.089,0.0014,1KG_AMR_AF,PDZD7
201269,10:102786155:A>G,NM_001195263.1:c.227-2330T>C,\N,\N,2/16,Unknown significance,\N,intron_variant,0.227,0.0014,1KG_AMR_AF,PDZD7
201270,10:102786169:G>A,NM_001195263.1:c.227-2344C>T,\N,\N,2/16,Unknown significance,\N,intron_variant,1.447,0.003,1KG_AFR_AF,PDZD7
201271,10:102786178:C>T,NM_001195263.1:c.227-2353G>A,\N,\N,2/16,Unknown significance,\N,intron_variant,1.849,\N,\N,PDZD7
201272,10:102786219:T>C,NM_001195263.1:c.227-2394A>G,\N,\N,2/16,Benign,\N,intron_variant,3.694,0.0325,1KG_AFR_AF,PDZD7
201273,10:102786249:G>C,NM_001195263.1:c.227-2424C>G,\N,\N,2/16,Unknown significance,\N,intron_variant,0.134,0.001,1KG_EAS_AF,PDZD7
201274,10:102786249:G>T,NM_001195263.1:c.227-2424C>A,\N,\N,2/16,Unknown significance,\N,intron_variant,0.259,\N,\N,PDZD7
201275,10:102786308:C>T,NM_001195263.1:c.227-2483G>A,\N,\N,2/16,Benign,\N,intron_variant,7.52,0.0082,1KG_SAS_AF,PDZD7
201276,10:102786407:T>G,NM_001195263.1:c.227-2582A>C,\N,\N,2/16,Benign,\N,intron_variant,11.64,0.3671,1KG_EAS_AF,PDZD7
201277,10:102786415:A>C,NM_001195263.1:c.227-2590T>G,\N,\N,2/16,Unknown significance,\N,intron_variant,6.599,0.001,1KG_SAS_AF,PDZD7
201278,10:102786417:A>G,NM_001195263.1:c.227-2592T>C,\N,\N,2/16,Unknown significance,\N,intron_variant,7.2,0.0008,1KG_AFR_AF,PDZD7
201279,10:102786419:ATCACAC>A,NM_001195263.1:c.227-2600_227-2595del,\N,\N,2/16,Unknown significance,\N,intron_variant,8.793,\N,\N,PDZD7
201280,10:102786419:ATCACACAC>A,NM_001195263.1:c.227-2602_227-2595del,\N,\N,2/16,Unknown significance,\N,intron_variant,\N,\N,\N,PDZD7
201281,10:102786420:T>TCA,NM_001195263.1:c.227-2597_227-2596dup,\N,\N,2/16,Unknown significance,\N,intron_variant,5.04,\N,\N,PDZD7
201282,10:102786420:T>TCACA,NM_001195263.1:c.227-2599_227-2596dup,\N,\N,2/16,Unknown significance,\N,intron_variant,4.684,\N,\N,PDZD7
201283,10:102786420:TCACACA>T,NM_001195263.1:c.227-2601_227-2596del,\N,\N,2/16,Unknown significance,\N,intron_variant,7.953,\N,\N,PDZD7
201284,10:102786420:TCACACACA>T,NM_001195263.1:c.227-2603_227-2596del,\N,\N,2/16,Unknown significance,\N,intron_variant,7.721,\N,\N,PDZD7
201285,10:102786421:C>T,NM_001195263.1:c.227-2596G>A,\N,\N,2/16,Unknown significance,\N,intron_variant,5.661,\N,\N,PDZD7
201286,10:102786454:A>ACACACACAC,NM_001195263.1:c.227-2638_227-2630dup,\N,\N,2/16,Unknown significance,\N,intron_variant,\N,\N,\N,PDZD7
201287,10:102786535:G>A,NM_001195263.1:c.227-2710C>T,\N,\N,2/16,Unknown significance,\N,intron_variant,7.499,\N,\N,PDZD7
201288,10:102786536:AG>A,NM_001195263.1:c.227-2712del,\N,\N,2/16,Benign,\N,intron_variant,8.58,0.0869,1KG_SAS_AF,PDZD7
201289,10:102786546:G>A,NM_001195263.1:c.227-2721C>T,\N,\N,2/16,Unknown significance,\N,intron_variant,5.558,\N,\N,PDZD7
201290,10:102786546:G>T,NM_001195263.1:c.227-2721C>A,\N,\N,2/16,Unknown significance,\N,intron_variant,3.692,0.001,1KG_EAS_AF,PDZD7
201291,10:102786551:G>A,NM_001195263.1:c.227-2726C>T,\N,\N,2/16,Unknown significance,\N,intron_variant,3.144,\N,\N,PDZD7
201292,10:102786567:C>T,NM_001195263.1:c.227-2742G>A,\N,\N,2/16,Unknown significance,\N,intron_variant,8.74,\N,\N,PDZD7
201293,10:102786574:G>A,NM_001195263.1:c.227-2749C>T,\N,\N,2/16,Unknown significance,\N,intron_variant,2.152,0.0014,1KG_AMR_AF,PDZD7
201294,10:102786604:T>C,NM_001195263.1:c.227-2779A>G,\N,\N,2/16,Unknown significance,\N,intron_variant,5.427,0.0014,1KG_AMR_AF,PDZD7
201295,10:102786612:A>C,NM_001195263.1:c.227-2787T>G,\N,\N,2/16,Unknown significance,\N,intron_variant,2.374,\N,\N,PDZD7
201296,10:102786640:G>A,NM_001195263.1:c.227-2815C>T,\N,\N,2/16,Unknown significance,\N,intron_variant,4.169,0.0008,1KG_AFR_AF,PDZD7
201297,10:102786644:C>A,NM_001195263.1:c.227-2819G>T,\N,\N,2/16,Benign,\N,intron_variant,2.669,0.0437,1KG_EUR_AF,PDZD7
201298,10:102786644:C>G,NM_001195263.1:c.227-2819G>C,\N,\N,2/16,Unknown significance,\N,intron_variant,0.821,\N,\N,PDZD7
201299,10:102786657:T>C,NM_001195263.1:c.227-2832A>G,\N,\N,2/16,Unknown significance,\N,intron_variant,0.434,0.0014,1KG_AMR_AF,PDZD7
201300,10:102786735:T>C,NM_001195263.1:c.227-2910A>G,\N,\N,2/16,Benign,\N,intron_variant,5.507,0.0121,1KG_AFR_AF,PDZD7
201301,10:102786744:C>A,NM_001195263.1:c.227-2919G>T,\N,\N,2/16,Benign,\N,intron_variant,4.032,0.0112,1KG_SAS_AF,PDZD7
201302,10:102786819:C>T,NM_001195263.1:c.226+2932G>A,\N,\N,2/16,Unknown significance,\N,intron_variant,3.666,0.0038,1KG_AFR_AF,PDZD7
201303,10:102786839:C>T,NM_001195263.1:c.226+2912G>A,\N,\N,2/16,Unknown significance,\N,intron_variant,3.059,\N,\N,PDZD7
201304,10:102786846:C>T,NM_001195263.1:c.226+2905G>A,\N,\N,2/16,Benign,\N,intron_variant,3.975,0.0123,1KG_SAS_AF,PDZD7
201305,10:102786882:G>A,NM_001195263.1:c.226+2869C>T,\N,\N,2/16,Unknown significance,\N,intron_variant,11.95,0.0008,1KG_AFR_AF,PDZD7
201306,10:102786889:C>T,NM_001195263.1:c.226+2862G>A,\N,\N,2/16,Unknown significance,\N,intron_variant,10.8,\N,\N,PDZD7
201307,10:102786931:G>C,NM_001195263.1:c.226+2820C>G,\N,\N,2/16,Unknown significance,\N,intron_variant,2.424,0.002,1KG_EAS_AF,PDZD7
201308,10:102786963:A>C,NM_001195263.1:c.226+2788T>G,\N,\N,2/16,Benign,\N,intron_variant,1.228,0.0159,1KG_AFR_AF,PDZD7
201309,10:102786972:A>G,NM_001195263.1:c.226+2779T>C,\N,\N,2/16,Unknown significance,\N,intron_variant,3.751,0.001,1KG_SAS_AF,PDZD7
201310,10:102787008:G>A,NM_001195263.1:c.226+2743C>T,\N,\N,2/16,Unknown significance,\N,intron_variant,3.159,\N,\N,PDZD7
201311,10:102787110:G>A,NM_001195263.1:c.226+2641C>T,\N,\N,2/16,Unknown significance,\N,intron_variant,1.586,\N,\N,PDZD7
201312,10:102787124:C>T,NM_001195263.1:c.226+2627G>A,\N,\N,2/16,Unknown significance,\N,intron_variant,1.621,0.0041,1KG_SAS_AF,PDZD7
201313,10:102787167:G>A,NM_001195263.1:c.226+2584C>T,\N,\N,2/16,Unknown significance,\N,intron_variant,2.039,\N,\N,PDZD7
201314,10:102787199:T>G,NM_001195263.1:c.226+2552A>C,\N,\N,2/16,Unknown significance,\N,intron_variant,3.869,\N,\N,PDZD7
201315,10:102787216:A>G,NM_001195263.1:c.226+2535T>C,\N,\N,2/16,Unknown significance,\N,intron_variant,4.869,0.001,1KG_EUR_AF,PDZD7
201316,10:102787231:T>C,NM_001195263.1:c.226+2520A>G,\N,\N,2/16,Unknown significance,\N,intron_variant,1.486,\N,\N,PDZD7
201317,10:102787247:G>A,NM_001195263.1:c.226+2504C>T,\N,\N,2/16,Unknown significance,\N,intron_variant,0.329,0.0031,1KG_SAS_AF,PDZD7
201318,10:102787265:C>T,NM_001195263.1:c.226+2486G>A,\N,\N,2/16,Unknown significance,\N,intron_variant,3.347,0.002,1KG_EAS_AF,PDZD7
201319,10:102787266:G>A,NM_001195263.1:c.226+2485C>T,\N,\N,2/16,Unknown significance,\N,intron_variant,0.337,0.001,1KG_EUR_AF,PDZD7
201320,10:102787290:A>G,NM_001195263.1:c.226+2461T>C,\N,\N,2/16,Unknown significance,\N,intron_variant,5.88,0.001,1KG_EAS_AF,PDZD7
201321,10:102787292:A>G,NM_001195263.1:c.226+2459T>C,\N,\N,2/16,Unknown significance,\N,intron_variant,3.149,\N,\N,PDZD7
201322,10:102787295:C>T,NM_001195263.1:c.226+2456G>A,\N,\N,2/16,Unknown significance,\N,intron_variant,0.814,0.001,1KG_EUR_AF|1KG_SAS_AF,PDZD7
201323,10:102787296:G>A,NM_001195263.1:c.226+2455C>T,\N,\N,2/16,Benign,\N,intron_variant,0.707,0.0427,1KG_EUR_AF,PDZD7
201324,10:102787345:C>A,NM_001195263.1:c.226+2406G>T,\N,\N,2/16,Unknown significance,\N,intron_variant,3.506,\N,\N,PDZD7
201325,10:102787345:C>G,NM_001195263.1:c.226+2406G>C,\N,\N,2/16,Unknown significance,\N,intron_variant,2.373,\N,\N,PDZD7
201326,10:102787377:T>TC,NM_001195263.1:c.226+2373dup,\N,\N,2/16,Unknown significance,\N,intron_variant,\N,\N,\N,PDZD7
201327,10:102787380:C>T,NM_001195263.1:c.226+2371G>A,\N,\N,2/16,Benign,\N,intron_variant,0.728,0.0068,1KG_AFR_AF,PDZD7
201328,10:102787381:G>A,NM_001195263.1:c.226+2370C>T,\N,\N,2/16,Unknown significance,\N,intron_variant,1.781,\N,\N,PDZD7
201329,10:102787404:T>C,NM_001195263.1:c.226+2347A>G,\N,\N,2/16,Unknown significance,\N,intron_variant,4.409,\N,\N,PDZD7
201330,10:102787424:A>G,NM_001195263.1:c.226+2327T>C,\N,\N,2/16,Unknown significance,\N,intron_variant,3.515,0.002,1KG_EUR_AF,PDZD7
201331,10:102787436:GATCACATTCTGACTCTTCCC>G,NM_001195263.1:c.226+2295_226+2314del,\N,\N,2/16,Benign,\N,intron_variant,6.803,0.0061,1KG_AFR_AF,PDZD7
201332,10:102787467:G>A,NM_001195263.1:c.226+2284C>T,\N,\N,2/16,Unknown significance,\N,intron_variant,1.141,\N,\N,PDZD7
201333,10:102787470:G>A,NM_001195263.1:c.226+2281C>T,\N,\N,2/16,Unknown significance,\N,intron_variant,0.78,\N,\N,PDZD7
201334,10:102787473:C>T,NM_001195263.1:c.226+2278G>A,\N,\N,2/16,Unknown significance,\N,intron_variant,0.761,0.0015,1KG_AFR_AF,PDZD7
201335,10:102787474:G>A,NM_001195263.1:c.226+2277C>T,\N,\N,2/16,Unknown significance,\N,intron_variant,0.426,0.002,1KG_SAS_AF,PDZD7
201336,10:102787487:T>G,NM_001195263.1:c.226+2264A>C,\N,\N,2/16,Unknown significance,\N,intron_variant,4.401,0.004,1KG_EAS_AF,PDZD7
201337,10:102787537:G>A,NM_001195263.1:c.226+2214C>T,\N,\N,2/16,Unknown significance,\N,intron_variant,1.368,\N,\N,PDZD7
201338,10:102787576:G>T,NM_001195263.1:c.226+2175C>A,\N,\N,2/16,Unknown significance,\N,intron_variant,0.033,\N,\N,PDZD7
201339,10:102787591:G>A,NM_001195263.1:c.226+2160C>T,\N,\N,2/16,Benign,\N,intron_variant,6.579,0.7962,1KG_EUR_AF,PDZD7
201340,10:102787594:A>AT,NM_001195263.1:c.226+2156dup,\N,\N,2/16,Unknown significance,\N,intron_variant,\N,\N,\N,PDZD7
201341,10:102787595:T>C,NM_001195263.1:c.226+2156A>G,\N,\N,2/16,Unknown significance,\N,intron_variant,1.887,\N,\N,PDZD7
201342,10:102787598:T>C,NM_001195263.1:c.226+2153A>G,\N,\N,2/16,Unknown significance,\N,intron_variant,1.9,0.002,1KG_EAS_AF,PDZD7
201343,10:102787611:G>A,NM_001195263.1:c.226+2140C>T,\N,\N,2/16,Unknown significance,\N,intron_variant,0.46,\N,\N,PDZD7
201344,10:102787623:G>A,NM_001195263.1:c.226+2128C>T,\N,\N,2/16,Unknown significance,\N,intron_variant,3.537,0.001,1KG_SAS_AF,PDZD7
201345,10:102787680:T>C,NM_001195263.1:c.226+2071A>G,\N,\N,2/16,Unknown significance,\N,intron_variant,0.743,\N,\N,PDZD7
201346,10:102787706:T>C,NM_001195263.1:c.226+2045A>G,\N,\N,2/16,Benign,\N,intron_variant,5.198,0.0209,1KG_EUR_AF,PDZD7
201347,10:102787707:C>T,NM_001195263.1:c.226+2044G>A,\N,\N,2/16,Benign,\N,intron_variant,5.416,0.0209,1KG_EUR_AF,PDZD7
201348,10:102787752:G>A,NM_001195263.1:c.226+1999C>T,\N,\N,2/16,Benign,\N,intron_variant,0.842,0.0106,1KG_AFR_AF,PDZD7
201349,10:102787803:G>A,NM_001195263.1:c.226+1948C>T,\N,\N,2/16,Unknown significance,\N,intron_variant,0.689,0.0014,1KG_AMR_AF,PDZD7
201350,10:102787908:T>C,NM_001195263.1:c.226+1843A>G,\N,\N,2/16,Unknown significance,\N,intron_variant,3.603,\N,\N,PDZD7
201351,10:102787910:C>T,NM_001195263.1:c.226+1841G>A,\N,\N,2/16,Unknown significance,\N,intron_variant,2.722,\N,\N,PDZD7
201352,10:102787939:C>G,NM_001195263.1:c.226+1812G>C,\N,\N,2/16,Unknown significance,\N,intron_variant,4.153,0.0008,1KG_AFR_AF,PDZD7
201353,10:102787944:C>T,NM_001195263.1:c.226+1807G>A,\N,\N,2/16,Unknown significance,\N,intron_variant,4.915,\N,\N,PDZD7
201354,10:102787957:C>T,NM_001195263.1:c.226+1794G>A,\N,\N,2/16,Unknown significance,\N,intron_variant,2.239,\N,\N,PDZD7
201355,10:102787966:G>T,NM_001195263.1:c.226+1785C>A,\N,\N,2/16,Unknown significance,\N,intron_variant,1.322,0.001,1KG_EUR_AF,PDZD7
201356,10:102787968:T>C,NM_001195263.1:c.226+1783A>G,\N,\N,2/16,Unknown significance,\N,intron_variant,2.031,0.001,1KG_SAS_AF,PDZD7
201357,10:102787979:T>C,NM_001195263.1:c.226+1772A>G,\N,\N,2/16,Unknown significance,\N,intron_variant,2.735,0.001,1KG_EUR_AF,PDZD7
201358,10:102787984:G>T,NM_001195263.1:c.226+1767C>A,\N,\N,2/16,Unknown significance,\N,intron_variant,3.734,0.0008,1KG_AFR_AF,PDZD7
201359,10:102788013:A>T,NM_001195263.1:c.226+1738T>A,\N,\N,2/16,Benign,\N,intron_variant,12.04,0.0144,1KG_AFR_AF,PDZD7
201360,10:102788020:A>G,NM_001195263.1:c.226+1731T>C,\N,\N,2/16,Unknown significance,\N,intron_variant,9.879,0.0008,1KG_AFR_AF,PDZD7
201361,10:102788052:G>A,NM_001195263.1:c.226+1699C>T,\N,\N,2/16,Benign,\N,intron_variant,11.31,0.0166,1KG_AFR_AF,PDZD7
201362,10:102788083:G>A,NM_001195263.1:c.226+1668C>T,\N,\N,2/16,Unknown significance,\N,intron_variant,2.907,0.0008,1KG_AFR_AF,PDZD7
201363,10:102788092:C>T,NM_001195263.1:c.226+1659G>A,\N,\N,2/16,Unknown significance,\N,intron_variant,5.359,0.002,1KG_EAS_AF,PDZD7
201364,10:102788102:T>C,NM_001195263.1:c.226+1649A>G,\N,\N,2/16,Unknown significance,\N,intron_variant,4.881,0.002,1KG_EAS_AF,PDZD7
201365,10:102788121:G>T,NM_001195263.1:c.226+1630C>A,\N,\N,2/16,Unknown significance,\N,intron_variant,0.171,\N,\N,PDZD7
201366,10:102788135:A>G,NM_001195263.1:c.226+1616T>C,\N,\N,2/16,Benign,\N,intron_variant,5.032,0.0325,1KG_AFR_AF,PDZD7
201367,10:102788147:C>T,NM_001195263.1:c.226+1604G>A,\N,\N,2/16,Unknown significance,\N,intron_variant,9.642,0.001,1KG_EAS_AF,PDZD7
201368,10:102788192:A>G,NM_001195263.1:c.226+1559T>C,\N,\N,2/16,Unknown significance,\N,intron_variant,1.105,0.001,1KG_EAS_AF,PDZD7
201369,10:102788235:C>G,NM_001195263.1:c.226+1516G>C,\N,\N,2/16,Unknown significance,\N,intron_variant,5.058,0.003,1KG_AFR_AF,PDZD7
201370,10:102788270:T>C,NM_001195263.1:c.226+1481A>G,\N,\N,2/16,Unknown significance,\N,intron_variant,6.605,\N,\N,PDZD7
201371,10:102788274:C>T,NM_001195263.1:c.226+1477G>A,\N,\N,2/16,Unknown significance,\N,intron_variant,8.068,\N,\N,PDZD7
201372,10:102788359:T>A,NM_001195263.1:c.226+1392A>T,\N,\N,2/16,Unknown significance,\N,intron_variant,0.578,\N,\N,PDZD7
201373,10:102788359:TA>T,NM_001195263.1:c.226+1391del,\N,\N,2/16,Benign,\N,intron_variant,4.896,0.3827,1KG_EUR_AF,PDZD7
201374,10:102788359:TAA>T,NM_001195263.1:c.226+1390_226+1391del,\N,\N,2/16,Unknown significance,\N,intron_variant,4.787,\N,\N,PDZD7
201375,10:102788389:C>T,NM_001195263.1:c.226+1362G>A,\N,\N,2/16,Unknown significance,\N,intron_variant,1.866,0.0023,1KG_AFR_AF,PDZD7
201376,10:102788405:G>T,NM_001195263.1:c.226+1346C>A,\N,\N,2/16,Unknown significance,\N,intron_variant,1.908,\N,\N,PDZD7
201377,10:102788411:A>T,NM_001195263.1:c.226+1340T>A,\N,\N,2/16,Unknown significance,\N,intron_variant,0.254,\N,\N,PDZD7
201378,10:102788427:A>G,NM_001195263.1:c.226+1324T>C,\N,\N,2/16,Unknown significance,\N,intron_variant,0.065,\N,\N,PDZD7
201379,10:102788469:C>A,NM_001195263.1:c.226+1282G>T,\N,\N,2/16,Unknown significance,\N,intron_variant,6.349,0.001,1KG_EUR_AF,PDZD7
201380,10:102788469:C>T,NM_001195263.1:c.226+1282G>A,\N,\N,2/16,Unknown significance,\N,intron_variant,4.939,\N,\N,PDZD7
201381,10:102788476:T>C,NM_001195263.1:c.226+1275A>G,\N,\N,2/16,Benign,\N,intron_variant,3.092,0.0058,1KG_AMR_AF,PDZD7
201382,10:102788504:C>T,NM_001195263.1:c.226+1247G>A,\N,\N,2/16,Unknown significance,\N,intron_variant,3.346,0.0014,1KG_AMR_AF,PDZD7
201383,10:102788528:A>G,NM_001195263.1:c.226+1223T>C,\N,\N,2/16,Unknown significance,\N,intron_variant,1.697,\N,\N,PDZD7
201384,10:102788596:C>T,NM_001195263.1:c.226+1155G>A,\N,\N,2/16,Unknown significance,\N,intron_variant,6.701,\N,\N,PDZD7
201385,10:102788647:G>A,NM_001195263.1:c.226+1104C>T,\N,\N,2/16,Unknown significance,\N,intron_variant,2.201,\N,\N,PDZD7
201386,10:102788709:G>T,NM_001195263.1:c.226+1042C>A,\N,\N,2/16,Unknown significance,\N,intron_variant,3.571,0.0041,1KG_SAS_AF,PDZD7
201387,10:102788733:C>T,NM_001195263.1:c.226+1018G>A,\N,\N,2/16,Unknown significance,\N,intron_variant,5.091,\N,\N,PDZD7
201388,10:102788746:G>T,NM_001195263.1:c.226+1005C>A,\N,\N,2/16,Unknown significance,\N,intron_variant,4.078,0.002,1KG_EAS_AF,PDZD7
201389,10:102788775:A>G,NM_001195263.1:c.226+976T>C,\N,\N,2/16,Unknown significance,\N,intron_variant,5.652,0.002,1KG_EUR_AF,PDZD7
201390,10:102788776:G>A,NM_001195263.1:c.226+975C>T,\N,\N,2/16,Benign,\N,intron_variant,6.941,0.0086,1KG_AMR_AF,PDZD7
201391,10:102788807:C>T,NM_001195263.1:c.226+944G>A,\N,\N,2/16,Benign,\N,intron_variant,14.27,0.0099,1KG_EUR_AF,PDZD7
201392,10:102788883:C>T,NM_001195263.1:c.226+868G>A,\N,\N,2/16,Benign,\N,intron_variant,8.404,0.005,1KG_EUR_AF,PDZD7
201393,10:102788960:C>T,NM_001195263.1:c.226+791G>A,\N,\N,2/16,Unknown significance,\N,intron_variant,13.57,\N,\N,PDZD7
201394,10:102789038:T>G,NM_001195263.1:c.226+713A>C,\N,\N,2/16,Unknown significance,\N,intron_variant,7.305,\N,\N,PDZD7
201395,10:102789045:T>G,NM_001195263.1:c.226+706A>C,\N,\N,2/16,Unknown significance,\N,intron_variant,10.54,\N,\N,PDZD7
201396,10:102789128:G>C,NM_001195263.1:c.226+623C>G,\N,\N,2/16,Unknown significance,\N,intron_variant,2.458,0.0008,1KG_AFR_AF,PDZD7
201397,10:102789143:T>G,NM_001195263.1:c.226+608A>C,\N,\N,2/16,Unknown significance,\N,intron_variant,6.584,\N,\N,PDZD7
201398,10:102789143:T>TG,NM_001195263.1:c.226+607dup,\N,\N,2/16,Benign,\N,intron_variant,4.236,0.8411,1KG_AFR_AF,PDZD7
201399,10:102789151:A>G,NM_001195263.1:c.226+600T>C,\N,\N,2/16,Benign,\N,intron_variant,3.91,0.0437,1KG_EUR_AF,PDZD7
201400,10:102789158:G>A,NM_001195263.1:c.226+593C>T,\N,\N,2/16,Unknown significance,\N,intron_variant,4.008,\N,\N,PDZD7
201401,10:102789163:T>C,NM_001195263.1:c.226+588A>G,\N,\N,2/16,Benign,\N,intron_variant,8.068,0.0109,1KG_EUR_AF,PDZD7
201402,10:102789236:A>G,NM_001195263.1:c.226+515T>C,\N,\N,2/16,Unknown significance,\N,intron_variant,8.237,0.001,1KG_EUR_AF,PDZD7
201403,10:102789237:A>G,NM_001195263.1:c.226+514T>C,\N,\N,2/16,Unknown significance,\N,intron_variant,8.677,0.001,1KG_EAS_AF,PDZD7
201404,10:102789248:G>A,NM_001195263.1:c.226+503C>T,\N,\N,2/16,Unknown significance,\N,intron_variant,4.201,0.001,1KG_SAS_AF,PDZD7
201405,10:102789299:G>A,NM_001195263.1:c.226+452C>T,\N,\N,2/16,Unknown significance,\N,intron_variant,3.513,0.001,1KG_EUR_AF,PDZD7
201406,10:102789301:T>C,NM_001195263.1:c.226+450A>G,\N,\N,2/16,Unknown significance,\N,intron_variant,1.672,0.003,1KG_AFR_AF,PDZD7
201407,10:102789313:T>C,NM_001195263.1:c.226+438A>G,\N,\N,2/16,Unknown significance,\N,intron_variant,4.844,\N,\N,PDZD7
201408,10:102789318:G>A,NM_001195263.1:c.226+433C>T,\N,\N,2/16,Unknown significance,\N,intron_variant,6.441,0.0008,1KG_AFR_AF,PDZD7
201409,10:102789329:C>T,NM_001195263.1:c.226+422G>A,\N,\N,2/16,Unknown significance,\N,intron_variant,10.35,\N,\N,PDZD7
201410,10:102789337:G>A,NM_001195263.1:c.226+414C>T,\N,\N,2/16,Unknown significance,\N,intron_variant,4.75,\N,\N,PDZD7
201411,10:102789346:T>C,NM_001195263.1:c.226+405A>G,\N,\N,2/16,Benign,\N,intron_variant,1.576,0.0051,1KG_SAS_AF,PDZD7
201412,10:102789368:CCTT>C,NM_001195263.1:c.226+380_226+382del,\N,\N,2/16,Unknown significance,\N,intron_variant,\N,\N,\N,PDZD7
201413,10:102789392:C>T,NM_001195263.1:c.226+359G>A,\N,\N,2/16,Unknown significance,\N,intron_variant,7.902,\N,\N,PDZD7
201414,10:102789400:C>T,NM_001195263.1:c.226+351G>A,\N,\N,2/16,Benign,\N,intron_variant,6.372,0.0068,1KG_AFR_AF,PDZD7
201415,10:102789401:A>C,NM_001195263.1:c.226+350T>G,\N,\N,2/16,Unknown significance,\N,intron_variant,0.586,0.001,1KG_EAS_AF,PDZD7
201416,10:102789455:C>G,NM_001195263.1:c.226+296G>C,\N,\N,2/16,Unknown significance,\N,intron_variant,6.445,\N,\N,PDZD7
201417,10:102789470:A>T,NM_001195263.1:c.226+281T>A,\N,\N,2/16,Unknown significance,\N,intron_variant,3.69,\N,\N,PDZD7
201418,10:102789477:A>G,NM_001195263.1:c.226+274T>C,\N,\N,2/16,Benign,\N,intron_variant,1.936,0.0208,1KG_EAS_AF,PDZD7
201419,10:102789484:C>A,NM_001195263.1:c.226+267G>T,\N,\N,2/16,Benign,\N,intron_variant,8.438,0.0061,1KG_AFR_AF,PDZD7
201420,10:102789502:T>C,NM_001195263.1:c.226+249A>G,\N,\N,2/16,Unknown significance,\N,intron_variant,5.563,\N,\N,PDZD7
201421,10:102789529:T>C,NM_001195263.1:c.226+222A>G,\N,\N,2/16,Benign,\N,intron_variant,3.586,0.0083,1KG_AFR_AF,PDZD7
201422,10:102789550:C>A,NM_001195263.1:c.226+201G>T,\N,\N,2/16,Unknown significance,\N,intron_variant,6.43,0.0023,1KG_AFR_AF,PDZD7
201423,10:102789563:G>T,NM_001195263.1:c.226+188C>A,\N,\N,2/16,Unknown significance,\N,intron_variant,4.132,\N,\N,PDZD7
201424,10:102789584:G>T,NM_001195263.1:c.226+167C>A,\N,\N,2/16,Benign,\N,intron_variant,5.33,0.006,1KG_EUR_AF,PDZD7
201425,10:102789594:A>G,NM_001195263.1:c.226+157T>C,\N,\N,2/16,Unknown significance,\N,intron_variant,6.873,\N,\N,PDZD7
201426,10:102789603:T>C,NM_001195263.1:c.226+148A>G,\N,\N,2/16,Unknown significance,\N,intron_variant,7.345,0.002,1KG_EAS_AF,PDZD7
201427,10:102789689:T>C,NM_001195263.1:c.226+62A>G,\N,\N,2/16,Unknown significance,\N,intron_variant,3.22,\N,\N,PDZD7
201428,10:102789700:C>T,NM_001195263.1:c.226+51G>A,\N,\N,2/16,Unknown significance,\N,intron_variant,7.856,0.00011685,EXAC_AFR_AF,PDZD7
201429,10:102789701:C>T,NM_001195263.1:c.226+50G>A,\N,\N,2/16,Unknown significance,\N,intron_variant,6.741,0.0000162222,EXAC_NFE_AF,PDZD7
201430,10:102789712:C>G,NM_001195263.1:c.226+39G>C,\N,\N,2/16,Unknown significance,\N,intron_variant,5.731,0.000129702,EXAC_SAS_AF,PDZD7
201431,10:102789714:T>C,NM_001195263.1:c.226+37A>G,\N,\N,2/16,Unknown significance,\N,intron_variant,3.218,0.0000322716,EXAC_NFE_AF,PDZD7
201432,10:102789726:G>A,NM_001195263.1:c.226+25C>T,\N,\N,2/16,Unknown significance,\N,intron_variant,5.723,0.0000793399,EXAC_NFE_AF,PDZD7
201433,10:102789739:T>C,NM_001195263.1:c.226+12A>G,\N,\N,2/16,Unknown significance,\N,intron_variant,4.326,\N,\N,PDZD7
201434,10:102789739:T>G,NM_001195263.1:c.226+12A>C,\N,\N,2/16,Benign,\N,intron_variant,6.282,0.0310169,EXAC_FIN_AF,PDZD7
201435,10:102789742:C>T,NM_001195263.1:c.226+9G>A,\N,\N,2/16,Unknown significance,\N,intron_variant,9.731,0.0000622937,EXAC_NFE_AF,PDZD7
201436,10:102789743:G>T,NM_001195263.1:c.226+8C>A,\N,\N,2/16,Unknown significance,\N,splice_region_variant&intron_variant,2.232,0.000323415,EXAC_AFR_AF,PDZD7
201437,10:102789751:C>G,NM_001195263.1:c.226G>C,NP_001182192.1:p.Ala76Pro,2/17,\N,Unknown significance,\N,missense_variant&splice_region_variant,28.8,0.000116279,EVS_EA_AF,PDZD7
201438,10:102789758:G>A,NM_001195263.1:c.219C>T,NP_001182192.1:p.Pro73=,2/17,\N,Unknown significance,\N,synonymous_variant,11.5,0.0000153733,EXAC_NFE_AF,PDZD7
201439,10:102789759:G>C,NM_001195263.1:c.218C>G,NP_001182192.1:p.Pro73Arg,2/17,\N,Unknown significance,\N,missense_variant,26.8,0.000181906,EXAC_SAS_AF,PDZD7
201440,10:102789764:G>T,NM_001195263.1:c.213C>A,NP_001182192.1:p.Asn71Lys,2/17,\N,Unknown significance,\N,missense_variant,27.4,0.0000606208,EXAC_SAS_AF,PDZD7
201441,10:102789771:A>G,NM_001195263.1:c.206T>C,NP_001182192.1:p.Leu69Pro,2/17,\N,Unknown significance,\N,missense_variant,29.5,0.0000867604,EXAC_AMR_AF,PDZD7
201442,10:102789778:C>A,NM_001195263.1:c.199G>T,NP_001182192.1:p.Val67Phe,2/17,\N,Unknown significance,\N,missense_variant,34,0.0000866852,EXAC_AMR_AF,PDZD7
201443,10:102789778:C>G,NM_001195263.1:c.199G>C,NP_001182192.1:p.Val67Leu,2/17,\N,Unknown significance,\N,missense_variant,32,0.000116144,EXAC_EAS_AF,PDZD7
201444,10:102789779:G>A,NM_001195263.1:c.198C>T,NP_001182192.1:p.Arg66=,2/17,\N,Unknown significance,\N,synonymous_variant,11.98,\N,\N,PDZD7
201445,10:102789801:C>A,NM_001195263.1:c.176G>T,NP_001182192.1:p.Arg59Leu,2/17,\N,Unknown significance,\N,missense_variant,35,0.001,1KG_EAS_AF,PDZD7
201446,10:102789801:C>T,NM_001195263.1:c.176G>A,NP_001182192.1:p.Arg59Gln,2/17,\N,Unknown significance,\N,missense_variant,35,0.0000865951,EXAC_AMR_AF,PDZD7
201447,10:102789809:G>C,NM_001195263.1:c.168C>G,NP_001182192.1:p.Arg56=,2/17,\N,Benign,\N,synonymous_variant,14.1,0.0113,1KG_AFR_AF,PDZD7
201448,10:102789810:C>CG,NM_001195263.1:c.166dup,NP_001182192.1:p.Arg56ProfsTer24,2/17,\N,Pathogenic,Phenotype modifier in Usher syndrome,frameshift_variant,34,\N,\N,PDZD7
201449,10:102789811:G>A,NM_001195263.1:c.166C>T,NP_001182192.1:p.Arg56Cys,2/17,\N,Unknown significance,\N,missense_variant,34,0.0000151846,EXAC_NFE_AF,PDZD7
201450,10:102789817:G>GC,NM_001195263.1:c.159dup,NP_001182192.1:p.Pro54AlafsTer26,2/17,\N,Unknown significance,\N,frameshift_variant,33,\N,\N,PDZD7
201451,10:102789818:C>G,NM_001195263.1:c.159G>C,NP_001182192.1:p.Gly53=,2/17,\N,Benign,\N,synonymous_variant,13.18,0.0446,1KG_AFR_AF,PDZD7
201452,10:102789818:C>A,NM_001195263.1:c.159G>T,NP_001182192.1:p.Gly53=,2/17,\N,Unknown significance,\N,synonymous_variant,17.38,0.000464468,EXAC_EAS_AF,PDZD7
201453,10:102789820:C>T,NM_001195263.1:c.157G>A,NP_001182192.1:p.Gly53Arg,2/17,\N,Unknown significance,\N,missense_variant,33,0.0000605694,EXAC_SAS_AF,PDZD7
201454,10:102789821:G>A,NM_001195263.1:c.156C>T,NP_001182192.1:p.Asn52=,2/17,\N,Benign,\N,synonymous_variant,10.36,0.0079,1KG_EAS_AF,PDZD7
201455,10:102789821:G>T,NM_001195263.1:c.156C>A,NP_001182192.1:p.Asn52Lys,2/17,\N,Unknown significance,\N,missense_variant,23.3,0.000153421,EXAC_FIN_AF,PDZD7
201456,10:102789823:T>C,NM_001195263.1:c.154A>G,NP_001182192.1:p.Asn52Asp,2/17,\N,Unknown significance,\N,missense_variant,22.2,\N,\N,PDZD7
201457,10:102789825:A>G,NM_001195263.1:c.152T>C,NP_001182192.1:p.Leu51Pro,2/17,\N,Unknown significance,\N,missense_variant,24.1,\N,\N,PDZD7
201458,10:102789826:G>A,NM_001195263.1:c.151C>T,NP_001182192.1:p.Leu51=,2/17,\N,Unknown significance,\N,synonymous_variant,10.37,\N,\N,PDZD7
201459,10:102789826:G>C,NM_001195263.1:c.151C>G,NP_001182192.1:p.Leu51Val,2/17,\N,Unknown significance,\N,missense_variant,21.4,\N,\N,PDZD7
201460,10:102789831:C>A,NM_001195263.1:c.146G>T,NP_001182192.1:p.Arg49Leu,2/17,\N,Unknown significance,\N,missense_variant,25.9,0.0000865951,EXAC_AMR_AF,PDZD7
201461,10:102789831:C>T,NM_001195263.1:c.146G>A,NP_001182192.1:p.Arg49Gln,2/17,\N,Benign,\N,missense_variant,23.6,0.0079,1KG_EAS_AF,PDZD7
201462,10:102789838:G>C,NM_001195263.1:c.139C>G,NP_001182192.1:p.Gln47Glu,2/17,\N,Unknown significance,\N,missense_variant,24.1,\N,\N,PDZD7
201463,10:102789838:G>T,NM_001195263.1:c.139C>A,NP_001182192.1:p.Gln47Lys,2/17,\N,Unknown significance,\N,missense_variant,16.73,0.0000150816,EXAC_NFE_AF,PDZD7
201464,10:102789839:C>A,NM_001195263.1:c.138G>T,NP_001182192.1:p.Lys46Asn,2/17,\N,Unknown significance,\N,missense_variant,28.5,\N,\N,PDZD7
201465,10:102789843:C>T,NM_001195263.1:c.134G>A,NP_001182192.1:p.Arg45Lys,2/17,\N,Likely benign,\N,missense_variant,13.35,0.0014,1KG_AMR_AF,PDZD7
201466,10:102789870:C>T,NM_001195263.1:c.107G>A,NP_001182192.1:p.Gly36Asp,2/17,\N,Unknown significance,\N,missense_variant,26.2,0.0000606355,EXAC_SAS_AF,PDZD7
201467,10:102789886:G>T,NM_001195263.1:c.91C>A,NP_001182192.1:p.Leu31Ile,2/17,\N,Unknown significance,\N,missense_variant,24.1,0.000116279,EVS_EA_AF,PDZD7
201468,10:102789889:G>C,NM_001195263.1:c.88C>G,NP_001182192.1:p.His30Asp,2/17,\N,Likely benign,\N,missense_variant,23.8,0.000226963,EVS_AA_AF,PDZD7
201469,10:102789898:A>G,NM_001195263.1:c.79T>C,NP_001182192.1:p.Ser27Pro,2/17,\N,Unknown significance,\N,missense_variant,24.5,0.0000611172,EXAC_SAS_AF,PDZD7
201470,10:102789900:G>A,NM_001195263.1:c.77C>T,NP_001182192.1:p.Ser26Phe,2/17,\N,Unknown significance,\N,missense_variant,27,0.000226963,EVS_AA_AF,PDZD7
201471,10:102789904:G>C,NM_001195263.1:c.73C>G,NP_001182192.1:p.Leu25Val,2/17,\N,Likely benign,\N,missense_variant,14.6,0.0000154943,EXAC_NFE_AF,PDZD7
201472,10:102789906:G>A,NM_001195263.1:c.71C>T,NP_001182192.1:p.Ser24Phe,2/17,\N,Unknown significance,\N,missense_variant,28.6,0.0000156128,EXAC_NFE_AF,PDZD7
201473,10:102789911:C>G,NM_001195263.1:c.66G>C,NP_001182192.1:p.Leu22=,2/17,\N,Unknown significance,\N,synonymous_variant,11.15,0.0000156833,EXAC_NFE_AF,PDZD7
201474,10:102789918:C>G,NM_001195263.1:c.59G>C,NP_001182192.1:p.Gly20Ala,2/17,\N,Likely benign,\N,missense_variant,5.982,0.0000317914,EXAC_NFE_AF,PDZD7
201475,10:102789918:C>T,NM_001195263.1:c.59G>A,NP_001182192.1:p.Gly20Asp,2/17,\N,Likely benign,\N,missense_variant,16.45,0.0000625156,EXAC_SAS_AF,PDZD7
201476,10:102789919:C>T,NM_001195263.1:c.58G>A,NP_001182192.1:p.Gly20Ser,2/17,\N,Likely benign,\N,missense_variant,14.3,0.0000159459,EXAC_NFE_AF,PDZD7
201477,10:102789920:G>A,NM_001195263.1:c.57C>T,NP_001182192.1:p.Ser19=,2/17,\N,Unknown significance,\N,synonymous_variant,13.87,\N,\N,PDZD7
201478,10:102789924:C>T,NM_024895.4:c.53G>A,NP_079171.1:p.Ser18Asn,2/10,\N,Likely benign,\N,missense_variant,14.46,0.00190476,EXAC_SAS_AF,PDZD7
201479,10:102789927:A>G,NM_001195263.1:c.50T>C,NP_001182192.1:p.Leu17Pro,2/17,\N,Unknown significance,\N,missense_variant,25.6,0.0000639713,EXAC_SAS_AF,PDZD7
201480,10:102789935:T>C,NM_001195263.1:c.42A>G,NP_001182192.1:p.Leu14=,2/17,\N,Unknown significance,\N,synonymous_variant,5.59,0.0000168005,EXAC_NFE_AF,PDZD7
201481,10:102789940:C>T,NM_001195263.1:c.37G>A,NP_001182192.1:p.Gly13Ser,2/17,\N,Likely benign,\N,missense_variant,22.6,0.000133174,EXAC_SAS_AF,PDZD7
201482,10:102789948:T>C,NM_001195263.1:c.29A>G,NP_001182192.1:p.Asp10Gly,2/17,\N,Unknown significance,\N,missense_variant,22.7,0.00014573,EXAC_EAS_AF,PDZD7
201483,10:102789949:C>G,NM_001195263.1:c.28G>C,NP_001182192.1:p.Asp10His,2/17,\N,Unknown significance,\N,missense_variant,25.3,0.0000183952,EXAC_NFE_AF,PDZD7
201484,10:102789949:C>T,NM_001195263.1:c.28G>A,NP_001182192.1:p.Asp10Asn,2/17,\N,Likely benign,\N,missense_variant,20.8,0.000226963,EVS_AA_AF,PDZD7
201485,10:102789950:G>C,NM_001195263.1:c.27C>G,NP_001182192.1:p.Phe9Leu,2/17,\N,Likely benign,\N,missense_variant,21.3,0.0000692809,EXAC_SAS_AF,PDZD7
201486,10:102789955:C>T,NM_001195263.1:c.22G>A,NP_001182192.1:p.Gly8Ser,2/17,\N,Likely benign,\N,missense_variant,23.5,0.000019416,EXAC_NFE_AF,PDZD7
201487,10:102789959:T>C,NM_001195263.1:c.18A>G,NP_001182192.1:p.Ala6=,2/17,\N,Unknown significance,\N,synonymous_variant,6.968,0.000454133,EVS_AA_AF,PDZD7
201488,10:102789961:C>A,NM_001195263.1:c.16G>T,NP_001182192.1:p.Ala6Ser,2/17,\N,Likely benign,\N,missense_variant,10.27,0.0000736703,EXAC_SAS_AF,PDZD7
201489,10:102789961:C>T,NM_001195263.1:c.16G>A,NP_001182192.1:p.Ala6Thr,2/17,\N,Likely benign,\N,missense_variant,10.21,0.0000212947,EXAC_NFE_AF,PDZD7
201490,10:102789962:G>A,NM_001195263.1:c.15C>T,NP_001182192.1:p.Phe5=,2/17,\N,Unknown significance,\N,synonymous_variant,13.04,0.00167785,EXAC_OTH_AF,PDZD7
201491,10:102789966:C>G,NM_001195263.1:c.11G>C,NP_001182192.1:p.Gly4Ala,2/17,\N,Likely benign,\N,missense_variant,17.32,0.000227273,EVS_AA_AF,PDZD7
201492,10:102789972:G>T,NM_001195263.1:c.5C>A,NP_001182192.1:p.Ala2Glu,2/17,\N,Unknown significance,\N,missense_variant,25,0.0000792896,EXAC_SAS_AF,PDZD7
201493,10:102789977:G>A,NM_001195263.1:c.-1C>T,\N,2/17,\N,Unknown significance,\N,5_prime_UTR_variant,12.08,\N,\N,PDZD7
201494,10:102789979:C>G,NM_001195263.1:c.-3G>C,\N,2/17,\N,Unknown significance,\N,5_prime_UTR_variant,3.036,0.0000832362,EXAC_SAS_AF,PDZD7
201495,10:102789980:G>A,NM_001195263.1:c.-4C>T,\N,2/17,\N,Unknown significance,\N,5_prime_UTR_variant,9.633,0.000744417,EXAC_EAS_AF,PDZD7
201496,10:102789981:G>T,NM_001195263.1:c.-5C>A,\N,2/17,\N,Unknown significance,\N,5_prime_UTR_variant,10.02,0.000116442,EVS_EA_AF,PDZD7
201497,10:102789990:G>C,NM_001195263.1:c.-14C>G,\N,2/17,\N,Unknown significance,\N,5_prime_UTR_variant,5.087,0.00254939,EXAC_EAS_AF,PDZD7
201498,10:102789992:G>A,NM_001195263.1:c.-16C>T,\N,2/17,\N,Unknown significance,\N,5_prime_UTR_variant,8.049,0.000438982,EXAC_AMR_AF,PDZD7
201499,10:102789993:C>T,NM_001195263.1:c.-17G>A,\N,2/17,\N,Unknown significance,\N,5_prime_UTR_variant,7.109,0.0000422869,EXAC_NFE_AF,PDZD7
201500,10:102789994:G>A,NM_001195263.1:c.-18C>T,\N,2/17,\N,Unknown significance,\N,5_prime_UTR_variant,5.481,0.00102145,EXAC_AMR_AF,PDZD7
201501,10:102790032:A>G,NM_001195263.1:c.-56T>C,\N,2/17,\N,Unknown significance,\N,5_prime_UTR_variant,12.45,0.00114884,EXAC_NFE_AF,PDZD7
201502,10:102790033:G>C,NM_001195263.1:c.-57C>G,\N,2/17,\N,Unknown significance,\N,5_prime_UTR_variant,11.09,0.000390117,EXAC_NFE_AF,PDZD7
201503,10:102790043:C>T,NM_001195263.1:c.-67G>A,\N,2/17,\N,Unknown significance,\N,5_prime_UTR_variant,9.421,\N,\N,PDZD7
201504,10:102790047:G>A,NM_001195263.1:c.-71C>T,\N,2/17,\N,Benign,\N,5_prime_UTR_variant,6.68,0.00529234,EXAC_SAS_AF,PDZD7
201505,10:102790057:C>T,NM_001195263.1:c.-81G>A,\N,2/17,\N,Unknown significance,\N,5_prime_UTR_variant,4.594,\N,\N,PDZD7
201506,10:102790058:T>TC,NM_001195263.1:c.-83dup,\N,2/17,\N,Unknown significance,\N,5_prime_UTR_variant,8.101,\N,\N,PDZD7
201507,10:102790062:T>C,NM_001195263.1:c.-86A>G,\N,2/17,\N,Benign,\N,5_prime_UTR_variant,13,0.0625,EXAC_FIN_AF,PDZD7
201508,10:102790064:A>G,NM_001195263.1:c.-88T>C,\N,2/17,\N,Unknown significance,\N,5_prime_UTR_variant,12.62,0.000127779,EXAC_SAS_AF,PDZD7
201509,10:102790075:G>A,NM_001195263.1:c.-99C>T,\N,2/17,\N,Unknown significance,\N,5_prime_UTR_variant,2.883,0.000256608,EXAC_SAS_AF,PDZD7
201510,10:102790075:G>C,NM_001195263.1:c.-99C>G,\N,2/17,\N,Unknown significance,\N,5_prime_UTR_variant,0.707,0,EXAC_ALL_AF|EXAC_AFR_AF|EXAC_AMR_AF|EXAC_EAS_AF|EXAC_FIN_AF|EXAC_NFE_AF|EXAC_OTH_AF|EXAC_SAS_AF,PDZD7
201511,10:102790102:C>A,NM_001195263.1:c.-126G>T,\N,2/17,\N,Unknown significance,\N,5_prime_UTR_variant,7.043,0.0001294,EXAC_SAS_AF,PDZD7
201512,10:102790119:T>C,NM_001195263.1:c.-143A>G,\N,2/17,\N,Unknown significance,\N,5_prime_UTR_variant,7.569,0.0014,1KG_AMR_AF,PDZD7
201513,10:102790165:G>C,NM_001195263.1:c.-165-24C>G,\N,\N,1/16,Unknown significance,\N,intron_variant,2.938,0.0023,1KG_AFR_AF,PDZD7
201514,10:102790234:G>A,NM_001195263.1:c.-165-93C>T,\N,\N,1/16,Unknown significance,\N,intron_variant,11.89,\N,\N,PDZD7
201515,10:102790244:G>A,NM_001195263.1:c.-165-103C>T,\N,\N,1/16,Unknown significance,\N,intron_variant,13.97,\N,\N,PDZD7
201516,10:102790251:G>A,NM_001195263.1:c.-165-110C>T,\N,\N,1/16,Unknown significance,\N,intron_variant,13.37,\N,\N,PDZD7
201517,10:102790254:C>T,NM_001195263.1:c.-165-113G>A,\N,\N,1/16,Unknown significance,\N,intron_variant,12.35,\N,\N,PDZD7
201518,10:102790278:G>A,NM_001195263.1:c.-165-137C>T,\N,\N,1/16,Unknown significance,\N,intron_variant,9.587,0.0008,1KG_AFR_AF,PDZD7
201519,10:102790289:C>T,NM_001195263.1:c.-165-148G>A,\N,\N,1/16,Unknown significance,\N,intron_variant,7.948,0.001,1KG_EUR_AF,PDZD7
201520,10:102790320:T>G,NM_001195263.1:c.-165-179A>C,\N,\N,1/16,Unknown significance,\N,intron_variant,6.903,0.001,1KG_EAS_AF,PDZD7
201521,10:102790341:C>A,NM_001195263.1:c.-165-200G>T,\N,\N,1/16,Unknown significance,\N,intron_variant,8.972,0.001,1KG_EUR_AF|1KG_SAS_AF,PDZD7
201522,10:102790342:C>A,NM_001195263.1:c.-165-201G>T,\N,\N,1/16,Unknown significance,\N,intron_variant,9.582,\N,\N,PDZD7
201523,10:102790384:C>T,NM_001195263.1:c.-165-243G>A,\N,\N,1/16,Unknown significance,\N,intron_variant,4.867,0.001,1KG_EAS_AF,PDZD7
201524,10:102790431:G>A,NM_001195263.1:c.-165-290C>T,\N,\N,1/16,Unknown significance,\N,intron_variant,7.445,\N,\N,PDZD7
201525,10:102790452:T>C,NM_001195263.1:c.-165-311A>G,\N,\N,1/16,Benign,\N,intron_variant,2.833,0.6272,1KG_EUR_AF,PDZD7
201526,10:102790459:C>G,NM_001195263.1:c.-165-318G>C,\N,\N,1/16,Unknown significance,\N,intron_variant,5.328,0.0038,1KG_AFR_AF,PDZD7
201527,10:102790479:C>T,NM_001195263.1:c.-165-338G>A,\N,\N,1/16,Unknown significance,\N,intron_variant,6.25,\N,\N,PDZD7
201528,10:102790482:A>G,NM_001195263.1:c.-165-341T>C,\N,\N,1/16,Unknown significance,\N,intron_variant,4.583,\N,\N,PDZD7
201529,10:102790507:G>A,NM_001195263.1:c.-166+323C>T,\N,\N,1/16,Unknown significance,\N,intron_variant,7.358,0.001,1KG_EUR_AF,PDZD7
201530,10:102790531:G>A,NM_001195263.1:c.-166+299C>T,\N,\N,1/16,Benign,\N,intron_variant,4.58,0.0106,1KG_AFR_AF,PDZD7
201531,10:102790649:A>G,NM_001195263.1:c.-166+181T>C,\N,\N,1/16,Unknown significance,\N,intron_variant,8.943,\N,\N,PDZD7
201532,10:102790685:G>T,NM_001195263.1:c.-166+145C>A,\N,\N,1/16,Unknown significance,\N,intron_variant,6.061,0.0029,1KG_AMR_AF,PDZD7
201533,10:102790730:G>A,NM_001195263.1:c.-166+100C>T,\N,\N,1/16,Benign,\N,intron_variant,7.814,0.007,1KG_EUR_AF,PDZD7
201534,10:102790746:G>A,NM_001195263.1:c.-166+84C>T,\N,\N,1/16,Unknown significance,\N,intron_variant,11.09,\N,\N,PDZD7
201535,10:102790799:C>A,NM_001195263.1:c.-166+31G>T,\N,\N,1/16,Benign,\N,intron_variant,8.348,0.3141,1KG_EUR_AF,PDZD7
201536,10:102790806:C>A,NM_001195263.1:c.-166+24G>T,\N,\N,1/16,Unknown significance,\N,intron_variant,9.79,0.0045,1KG_AFR_AF,PDZD7
201537,10:102790886:T>A,NM_001195263.1:c.-222A>T,\N,1/17,\N,Benign,\N,5_prime_UTR_variant,9.196,0.0454,1KG_AFR_AF,PDZD