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
1,1:6484878:C>T,NM_031475.2:c.-138C>T,\N,1/13,\N,Benign,\N,5_prime_UTR_variant,11.84,0.1429,1KG_EAS_AF,ESPN
2,1:6484880:A>G,NM_031475.2:c.-136A>G,\N,1/13,\N,Benign,\N,5_prime_UTR_variant,8.908,0.8071,1KG_AFR_AF,ESPN
3,1:6484926:G>T,NM_031475.2:c.-90G>T,\N,1/13,\N,Unknown significance,\N,5_prime_UTR_variant,10.79,0.001,1KG_EAS_AF,ESPN
4,1:6484962:A>G,NM_031475.2:c.-54A>G,\N,1/13,\N,Benign,\N,5_prime_UTR_variant,10.94,0.0151,1KG_AFR_AF,ESPN
5,1:6484967:G>A,NM_031475.2:c.-49G>A,\N,1/13,\N,Benign,\N,5_prime_UTR_variant,10.95,0.00694444,EXAC_AFR_AF,ESPN
6,1:6484971:T>C,NM_031475.2:c.-45T>C,\N,1/13,\N,Unknown significance,\N,5_prime_UTR_variant,6.7,0.000686813,EXAC_SAS_AF,ESPN
7,1:6485001:G>A,NM_031475.2:c.-15G>A,\N,1/13,\N,Unknown significance,\N,5_prime_UTR_variant,11.74,\N,\N,ESPN
8,1:6485003:C>T,NM_031475.2:c.-13C>T,\N,1/13,\N,Unknown significance,\N,5_prime_UTR_variant,13.03,\N,\N,ESPN
9,1:6485009:C>T,NM_031475.2:c.-7C>T,\N,1/13,\N,Unknown significance,\N,5_prime_UTR_variant,9.098,0.000487329,EXAC_SAS_AF,ESPN
10,1:6485022:C>G,NM_031475.2:c.7C>G,NP_113663.2:p.Leu3Val,1/13,\N,Likely benign,\N,missense_variant,21.8,0.001,1KG_SAS_AF,ESPN
11,1:6485086:C>G,NM_031475.2:c.71C>G,NP_113663.2:p.Ala24Gly,1/13,\N,Likely benign,\N,missense_variant,23.5,0.00015015,EXAC_SAS_AF,ESPN
12,1:6485088:G>A,NM_031475.2:c.73G>A,NP_113663.2:p.Gly25Ser,1/13,\N,Unknown significance,\N,missense_variant,19.8,0.000150195,EXAC_SAS_AF,ESPN
13,1:6485088:G>C,NM_031475.2:c.73G>C,NP_113663.2:p.Gly25Arg,1/13,\N,Likely benign,\N,missense_variant,16.38,0.000150195,EXAC_SAS_AF,ESPN
14,1:6485167:G>C,NM_031475.2:c.152G>C,NP_113663.2:p.Cys51Ser,1/13,\N,Unknown significance,\N,missense_variant,25.6,0.000289939,EXAC_SAS_AF,ESPN
15,1:6485207:G>T,NM_031475.2:c.192G>T,NP_113663.2:p.Ala64=,1/13,\N,Unknown significance,\N,synonymous_variant,8.532,0.001,1KG_EAS_AF,ESPN
16,1:6485211:C>A,NM_031475.2:c.196C>A,NP_113663.2:p.Arg66Ser,1/13,\N,Unknown significance,\N,missense_variant,22,0.001,1KG_EUR_AF,ESPN
17,1:6485216:C>T,NM_031475.2:c.201C>T,NP_113663.2:p.Ala67=,1/13,\N,Unknown significance,\N,synonymous_variant,12.48,0.0031,1KG_SAS_AF,ESPN
18,1:6485220:A>C,NM_031475.2:c.205A>C,NP_113663.2:p.Asn69His,1/13,\N,Unknown significance,\N,missense_variant,23.6,\N,\N,ESPN
19,1:6485222:C>T,NM_031475.2:c.207C>T,NP_113663.2:p.Asn69=,1/13,\N,Unknown significance,\N,synonymous_variant,13.91,\N,\N,ESPN
20,1:6485223:G>A,NM_031475.2:c.208G>A,NP_113663.2:p.Gly70Ser,1/13,\N,Unknown significance,\N,missense_variant,28.1,\N,\N,ESPN
21,1:6485232:C>G,NM_031475.2:c.217C>G,NP_113663.2:p.Pro73Ala,1/13,\N,Unknown significance,\N,missense_variant,22.6,0.000134807,EXAC_SAS_AF,ESPN
22,1:6485256:G>A,NM_031475.2:c.241G>A,NP_113663.2:p.Gly81Ser,1/13,\N,Unknown significance,\N,missense_variant,32,0.00222222,EXAC_AMR_AF,ESPN
23,1:6485265:G>T,NM_031475.2:c.250G>T,NP_113663.2:p.Ala84Ser,1/13,\N,Benign,\N,missense_variant,12.39,0.0343511,EXAC_AFR_AF,ESPN
24,1:6485276:G>C,NM_031475.2:c.261G>C,NP_113663.2:p.Gln87His,1/13,\N,Unknown significance,\N,missense_variant,26.4,\N,\N,ESPN
25,1:6485283:C>G,NM_031475.2:c.268C>G,NP_113663.2:p.Leu90Val,1/13,\N,Unknown significance,\N,missense_variant,23,\N,\N,ESPN
26,1:6485285:G>A,NM_031475.2:c.270G>A,NP_113663.2:p.Leu90=,1/13,\N,Benign,\N,synonymous_variant,9.241,0.00568182,EXAC_OTH_AF,ESPN
27,1:6485288:G>T,NM_031475.2:c.273G>T,NP_113663.2:p.Ser91=,1/13,\N,Unknown significance,\N,synonymous_variant,11.1,0.00011773,EXAC_NFE_AF,ESPN
28,1:6485305:T>A,NM_031475.2:c.290T>A,NP_113663.2:p.Val97Glu,1/13,\N,Benign,\N,missense_variant,26.2,0.0101351,EXAC_FIN_AF,ESPN
29,1:6485306:G>T,NM_031475.2:c.291G>T,NP_113663.2:p.Val97=,1/13,\N,Unknown significance,\N,synonymous_variant,9.382,\N,\N,ESPN
30,1:6485314:G>T,NM_031475.2:c.294+5G>T,\N,\N,1/12,Unknown significance,\N,splice_region_variant&intron_variant,15.38,0.00008371,EXAC_NFE_AF,ESPN
31,1:6485315:T>G,NM_031475.2:c.294+6T>G,\N,\N,1/12,Unknown significance,\N,splice_region_variant&intron_variant,13.34,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,ESPN
32,1:6485320:G>C,NM_031475.2:c.294+11G>C,\N,\N,1/12,Unknown significance,\N,intron_variant,6.466,\N,\N,ESPN
33,1:6485323:G>T,NM_031475.2:c.294+14G>T,\N,\N,1/12,Unknown significance,\N,intron_variant,4.019,0.001,1KG_SAS_AF,ESPN
34,1:6485324:T>G,NM_031475.2:c.294+15T>G,\N,\N,1/12,Unknown significance,\N,intron_variant,5.362,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,ESPN
35,1:6485326:C>A,NM_031475.2:c.294+17C>A,\N,\N,1/12,Unknown significance,\N,intron_variant,8.09,\N,\N,ESPN
36,1:6485334:G>A,NM_031475.2:c.294+25G>A,\N,\N,1/12,Unknown significance,\N,intron_variant,6.78,0.000464253,EXAC_AMR_AF,ESPN
37,1:6485339:G>A,NM_031475.2:c.294+30G>A,\N,\N,1/12,Benign,\N,intron_variant,7.009,0.00849377,EXAC_EAS_AF,ESPN
38,1:6485347:C>T,NM_031475.2:c.294+38C>T,\N,\N,1/12,Unknown significance,\N,intron_variant,8.938,0.000117123,EXAC_SAS_AF,ESPN
39,1:6485376:C>T,NM_031475.2:c.294+67C>T,\N,\N,1/12,Unknown significance,\N,intron_variant,11.11,0.0038,1KG_AFR_AF,ESPN
40,1:6485396:G>A,NM_031475.2:c.294+87G>A,\N,\N,1/12,Unknown significance,\N,intron_variant,9.288,\N,\N,ESPN
41,1:6485484:T>A,NM_031475.2:c.294+175T>A,\N,\N,1/12,Unknown significance,\N,intron_variant,5.808,0.001,1KG_EAS_AF,ESPN
42,1:6485486:C>T,NM_031475.2:c.294+177C>T,\N,\N,1/12,Unknown significance,\N,intron_variant,6.229,0.001,1KG_SAS_AF,ESPN
43,1:6485504:C>T,NM_031475.2:c.294+195C>T,\N,\N,1/12,Unknown significance,\N,intron_variant,7.943,\N,\N,ESPN
44,1:6485528:G>C,NM_031475.2:c.294+219G>C,\N,\N,1/12,Unknown significance,\N,intron_variant,3.073,\N,\N,ESPN
45,1:6485564:C>T,NM_031475.2:c.294+255C>T,\N,\N,1/12,Unknown significance,\N,intron_variant,8.346,0.0008,1KG_AFR_AF,ESPN
46,1:6485565:G>A,NM_031475.2:c.294+256G>A,\N,\N,1/12,Unknown significance,\N,intron_variant,7.739,\N,\N,ESPN
47,1:6485586:G>A,NM_031475.2:c.294+277G>A,\N,\N,1/12,Unknown significance,\N,intron_variant,0.601,0.0008,1KG_AFR_AF,ESPN
48,1:6485593:G>A,NM_031475.2:c.294+284G>A,\N,\N,1/12,Unknown significance,\N,intron_variant,4.139,\N,\N,ESPN
49,1:6485620:T>TG,NM_031475.2:c.294+311_294+312insG,\N,\N,1/12,Unknown significance,\N,intron_variant,\N,\N,\N,ESPN
50,1:6485755:G>A,NM_031475.2:c.294+446G>A,\N,\N,1/12,Unknown significance,\N,intron_variant,5.831,0.001,1KG_SAS_AF,ESPN
51,1:6485770:T>C,NM_031475.2:c.294+461T>C,\N,\N,1/12,Unknown significance,\N,intron_variant,5.222,0.0023,1KG_AFR_AF,ESPN
52,1:6485787:G>T,NM_031475.2:c.294+478G>T,\N,\N,1/12,Benign,\N,intron_variant,0.22,0.1429,1KG_EAS_AF,ESPN
53,1:6485793:C>A,NM_031475.2:c.294+484C>A,\N,\N,1/12,Unknown significance,\N,intron_variant,1.753,\N,\N,ESPN
54,1:6485866:C>A,NM_031475.2:c.294+557C>A,\N,\N,1/12,Benign,\N,intron_variant,13.95,0.0817,1KG_AFR_AF,ESPN
55,1:6485898:G>A,NM_031475.2:c.294+589G>A,\N,\N,1/12,Unknown significance,\N,intron_variant,13.88,0.001,1KG_EAS_AF,ESPN
56,1:6485904:T>A,NM_031475.2:c.294+595T>A,\N,\N,1/12,Unknown significance,\N,intron_variant,16.1,\N,\N,ESPN
57,1:6485906:ACCT>A,NM_031475.2:c.294+600_294+602del,\N,\N,1/12,Benign,\N,intron_variant,16.98,0.0058,1KG_AMR_AF,ESPN
58,1:6485953:G>C,NM_031475.2:c.294+644G>C,\N,\N,1/12,Unknown significance,\N,intron_variant,0.078,\N,\N,ESPN
59,1:6485963:T>G,NM_031475.2:c.294+654T>G,\N,\N,1/12,Unknown significance,\N,intron_variant,6.989,0.002,1KG_EAS_AF,ESPN
60,1:6485971:A>C,NM_031475.2:c.294+662A>C,\N,\N,1/12,Unknown significance,\N,intron_variant,4.635,\N,\N,ESPN
61,1:6485977:A>T,NM_031475.2:c.294+668A>T,\N,\N,1/12,Unknown significance,\N,intron_variant,8.247,\N,\N,ESPN
62,1:6485986:T>C,NM_031475.2:c.294+677T>C,\N,\N,1/12,Unknown significance,\N,intron_variant,6.999,\N,\N,ESPN
63,1:6485992:G>C,NM_031475.2:c.294+683G>C,\N,\N,1/12,Benign,\N,intron_variant,0.612,0.1346,1KG_AFR_AF,ESPN
64,1:6486003:T>A,NM_031475.2:c.294+694T>A,\N,\N,1/12,Unknown significance,\N,intron_variant,5.912,\N,\N,ESPN
65,1:6486003:T>C,NM_031475.2:c.294+694T>C,\N,\N,1/12,Unknown significance,\N,intron_variant,2.77,\N,\N,ESPN
66,1:6486009:CTCTTG>C,NM_031475.2:c.294+703_294+707del,\N,\N,1/12,Unknown significance,\N,intron_variant,\N,\N,\N,ESPN
67,1:6486012:T>C,NM_031475.2:c.294+703T>C,\N,\N,1/12,Benign,\N,intron_variant,2.063,0.1339,1KG_AFR_AF,ESPN
68,1:6486058:G>C,NM_031475.2:c.294+749G>C,\N,\N,1/12,Unknown significance,\N,intron_variant,2.886,\N,\N,ESPN
69,1:6486068:A>G,NM_031475.2:c.294+759A>G,\N,\N,1/12,Unknown significance,\N,intron_variant,4.195,0.0015,1KG_AFR_AF,ESPN
70,1:6486098:A>G,NM_031475.2:c.294+789A>G,\N,\N,1/12,Benign,\N,intron_variant,0.347,0.0166,1KG_AFR_AF,ESPN
71,1:6486105:G>A,NM_031475.2:c.294+796G>A,\N,\N,1/12,Unknown significance,\N,intron_variant,1.629,0.002,1KG_EAS_AF,ESPN
72,1:6486128:T>G,NM_031475.2:c.294+819T>G,\N,\N,1/12,Unknown significance,\N,intron_variant,10.02,\N,\N,ESPN
73,1:6486188:G>T,NM_031475.2:c.294+879G>T,\N,\N,1/12,Unknown significance,\N,intron_variant,0.518,\N,\N,ESPN
74,1:6486190:G>A,NM_031475.2:c.294+881G>A,\N,\N,1/12,Benign,\N,intron_variant,4.32,0.093,1KG_SAS_AF,ESPN
75,1:6486195:C>T,NM_031475.2:c.294+886C>T,\N,\N,1/12,Unknown significance,\N,intron_variant,2.976,0.001,1KG_SAS_AF,ESPN
76,1:6486207:G>C,NM_031475.2:c.294+898G>C,\N,\N,1/12,Unknown significance,\N,intron_variant,4.808,\N,\N,ESPN
77,1:6486219:G>A,NM_031475.2:c.294+910G>A,\N,\N,1/12,Benign,\N,intron_variant,7.266,0.0136,1KG_AFR_AF,ESPN
78,1:6486225:C>T,NM_031475.2:c.294+916C>T,\N,\N,1/12,Benign,\N,intron_variant,5.486,0.0859,1KG_SAS_AF,ESPN
79,1:6486227:C>A,NM_031475.2:c.294+918C>A,\N,\N,1/12,Unknown significance,\N,intron_variant,5.447,\N,\N,ESPN
80,1:6486238:T>C,NM_031475.2:c.294+929T>C,\N,\N,1/12,Unknown significance,\N,intron_variant,4.231,\N,\N,ESPN
81,1:6486286:T>G,NM_031475.2:c.294+977T>G,\N,\N,1/12,Unknown significance,\N,intron_variant,3.766,\N,\N,ESPN
82,1:6486327:C>T,NM_031475.2:c.294+1018C>T,\N,\N,1/12,Unknown significance,\N,intron_variant,3.304,\N,\N,ESPN
83,1:6486332:A>G,NM_031475.2:c.294+1023A>G,\N,\N,1/12,Unknown significance,\N,intron_variant,4.807,0.0023,1KG_AFR_AF,ESPN
84,1:6486336:C>T,NM_031475.2:c.294+1027C>T,\N,\N,1/12,Unknown significance,\N,intron_variant,6.098,\N,\N,ESPN
85,1:6486346:C>T,NM_031475.2:c.294+1037C>T,\N,\N,1/12,Unknown significance,\N,intron_variant,5.199,\N,\N,ESPN
86,1:6486352:AC>A,NM_031475.2:c.294+1045del,\N,\N,1/12,Unknown significance,\N,intron_variant,\N,\N,\N,ESPN
87,1:6486395:C>T,NM_031475.2:c.294+1086C>T,\N,\N,1/12,Unknown significance,\N,intron_variant,3.576,0.0008,1KG_AFR_AF,ESPN
88,1:6486396:G>A,NM_031475.2:c.294+1087G>A,\N,\N,1/12,Unknown significance,\N,intron_variant,6.633,0.0014,1KG_AMR_AF,ESPN
89,1:6486396:G>C,NM_031475.2:c.294+1087G>C,\N,\N,1/12,Unknown significance,\N,intron_variant,3.247,\N,\N,ESPN
90,1:6486460:A>T,NM_031475.2:c.294+1151A>T,\N,\N,1/12,Unknown significance,\N,intron_variant,4.187,\N,\N,ESPN
91,1:6486464:G>A,NM_031475.2:c.294+1155G>A,\N,\N,1/12,Benign,\N,intron_variant,2.071,0.1339,1KG_AFR_AF,ESPN
92,1:6486477:G>C,NM_031475.2:c.294+1168G>C,\N,\N,1/12,Unknown significance,\N,intron_variant,9.285,\N,\N,ESPN
93,1:6486547:G>C,NM_031475.2:c.294+1238G>C,\N,\N,1/12,Unknown significance,\N,intron_variant,9.427,\N,\N,ESPN
94,1:6486547:G>T,NM_031475.2:c.294+1238G>T,\N,\N,1/12,Unknown significance,\N,intron_variant,10.35,0.001,1KG_EAS_AF,ESPN
95,1:6486548:G>A,NM_031475.2:c.294+1239G>A,\N,\N,1/12,Unknown significance,\N,intron_variant,9.115,\N,\N,ESPN
96,1:6486554:A>T,NM_031475.2:c.294+1245A>T,\N,\N,1/12,Benign,\N,intron_variant,12.17,0.0129,1KG_AFR_AF,ESPN
97,1:6486567:T>G,NM_031475.2:c.294+1258T>G,\N,\N,1/12,Unknown significance,\N,intron_variant,8.664,\N,\N,ESPN
98,1:6486580:G>T,NM_031475.2:c.294+1271G>T,\N,\N,1/12,Unknown significance,\N,intron_variant,11.02,\N,\N,ESPN
99,1:6486598:C>T,NM_031475.2:c.294+1289C>T,\N,\N,1/12,Unknown significance,\N,intron_variant,15.93,0.001,1KG_EAS_AF,ESPN
100,1:6486609:G>T,NM_031475.2:c.294+1300G>T,\N,\N,1/12,Unknown significance,\N,intron_variant,9.448,0.0023,1KG_AFR_AF,ESPN
101,1:6486612:C>T,NM_031475.2:c.294+1303C>T,\N,\N,1/12,Unknown significance,\N,intron_variant,8.812,0.0008,1KG_AFR_AF,ESPN
102,1:6486619:G>A,NM_031475.2:c.294+1310G>A,\N,\N,1/12,Unknown significance,\N,intron_variant,5.185,0.004,1KG_EAS_AF,ESPN
103,1:6486622:C>T,NM_031475.2:c.294+1313C>T,\N,\N,1/12,Unknown significance,\N,intron_variant,9.134,0.0014,1KG_AMR_AF,ESPN
104,1:6486634:G>A,NM_031475.2:c.294+1325G>A,\N,\N,1/12,Unknown significance,\N,intron_variant,4.756,0.001,1KG_EUR_AF|1KG_SAS_AF,ESPN
105,1:6486677:C>T,NM_031475.2:c.294+1368C>T,\N,\N,1/12,Benign,\N,intron_variant,6.019,0.1438,1KG_EAS_AF,ESPN
106,1:6486689:GC>AT,NM_031475.2:c.294+1380_294+1381delinsAT,\N,\N,1/12,Unknown significance,\N,intron_variant,\N,\N,\N,ESPN
107,1:6486839:G>T,NM_031475.2:c.295-1447G>T,\N,\N,1/12,Unknown significance,\N,intron_variant,1.037,\N,\N,ESPN
108,1:6486843:G>A,NM_031475.2:c.295-1443G>A,\N,\N,1/12,Benign,\N,intron_variant,1.906,0.1331,1KG_AFR_AF,ESPN
109,1:6486855:C>T,NM_031475.2:c.295-1431C>T,\N,\N,1/12,Unknown significance,\N,intron_variant,4.012,\N,\N,ESPN
110,1:6486856:G>A,NM_031475.2:c.295-1430G>A,\N,\N,1/12,Unknown significance,\N,intron_variant,2.051,\N,\N,ESPN
111,1:6486868:C>A,NM_031475.2:c.295-1418C>A,\N,\N,1/12,Unknown significance,\N,intron_variant,8.096,0.0029,1KG_AMR_AF,ESPN
112,1:6486869:G>A,NM_031475.2:c.295-1417G>A,\N,\N,1/12,Benign,\N,intron_variant,2.688,0.0204,1KG_SAS_AF,ESPN
113,1:6486874:G>C,NM_031475.2:c.295-1412G>C,\N,\N,1/12,Unknown significance,\N,intron_variant,0.761,0.001,1KG_EUR_AF,ESPN
114,1:6486892:T>C,NM_031475.2:c.295-1394T>C,\N,\N,1/12,Unknown significance,\N,intron_variant,1.304,\N,\N,ESPN
115,1:6486901:C>T,NM_031475.2:c.295-1385C>T,\N,\N,1/12,Unknown significance,\N,intron_variant,7.67,\N,\N,ESPN
116,1:6486903:C>G,NM_031475.2:c.295-1383C>G,\N,\N,1/12,Unknown significance,\N,intron_variant,5.154,0.001,1KG_EAS_AF,ESPN
117,1:6486927:G>C,NM_031475.2:c.295-1359G>C,\N,\N,1/12,Unknown significance,\N,intron_variant,0.808,0.0014,1KG_AMR_AF,ESPN
118,1:6486951:C>G,NM_031475.2:c.295-1335C>G,\N,\N,1/12,Unknown significance,\N,intron_variant,4.813,0.001,1KG_SAS_AF,ESPN
119,1:6487021:G>A,NM_031475.2:c.295-1265G>A,\N,\N,1/12,Unknown significance,\N,intron_variant,0.142,0.001,1KG_EAS_AF,ESPN
120,1:6487031:C>T,NM_031475.2:c.295-1255C>T,\N,\N,1/12,Benign,\N,intron_variant,1.306,0.3245,1KG_AFR_AF,ESPN
121,1:6487063:C>T,NM_031475.2:c.295-1223C>T,\N,\N,1/12,Unknown significance,\N,intron_variant,1.976,0.0008,1KG_AFR_AF,ESPN
122,1:6487071:C>T,NM_031475.2:c.295-1215C>T,\N,\N,1/12,Unknown significance,\N,intron_variant,2.364,\N,\N,ESPN
123,1:6487109:C>T,NM_031475.2:c.295-1177C>T,\N,\N,1/12,Unknown significance,\N,intron_variant,1.907,0.003,1KG_EAS_AF,ESPN
124,1:6487137:G>A,NM_031475.2:c.295-1149G>A,\N,\N,1/12,Unknown significance,\N,intron_variant,3.202,0.0008,1KG_AFR_AF,ESPN
125,1:6487181:C>A,NM_031475.2:c.295-1105C>A,\N,\N,1/12,Unknown significance,\N,intron_variant,5.382,0.0014,1KG_AMR_AF,ESPN
126,1:6487181:C>T,NM_031475.2:c.295-1105C>T,\N,\N,1/12,Unknown significance,\N,intron_variant,5.255,\N,\N,ESPN
127,1:6487182:G>A,NM_031475.2:c.295-1104G>A,\N,\N,1/12,Unknown significance,\N,intron_variant,4.28,\N,\N,ESPN
128,1:6487206:T>C,NM_031475.2:c.295-1080T>C,\N,\N,1/12,Unknown significance,\N,intron_variant,0.765,0.0015,1KG_AFR_AF,ESPN
129,1:6487226:C>T,NM_031475.2:c.295-1060C>T,\N,\N,1/12,Benign,\N,intron_variant,5.232,0.1331,1KG_AFR_AF,ESPN
130,1:6487275:A>AT,NM_031475.2:c.295-1010dup,\N,\N,1/12,Unknown significance,\N,intron_variant,\N,\N,\N,ESPN
131,1:6487275:A>C,NM_031475.2:c.295-1011A>C,\N,\N,1/12,Benign,\N,intron_variant,0.199,0.1331,1KG_AFR_AF,ESPN
132,1:6487289:A>T,NM_031475.2:c.295-997A>T,\N,\N,1/12,Unknown significance,\N,intron_variant,0.056,0.001,1KG_SAS_AF,ESPN
133,1:6487301:C>A,NM_031475.2:c.295-985C>A,\N,\N,1/12,Unknown significance,\N,intron_variant,4.348,0.004,1KG_EAS_AF,ESPN
134,1:6487314:A>T,NM_031475.2:c.295-972A>T,\N,\N,1/12,Unknown significance,\N,intron_variant,3.582,\N,\N,ESPN
135,1:6487354:T>C,NM_031475.2:c.295-932T>C,\N,\N,1/12,Unknown significance,\N,intron_variant,1.36,\N,\N,ESPN
136,1:6487358:C>A,NM_031475.2:c.295-928C>A,\N,\N,1/12,Unknown significance,\N,intron_variant,4.61,0.0008,1KG_AFR_AF,ESPN
137,1:6487366:C>T,NM_031475.2:c.295-920C>T,\N,\N,1/12,Unknown significance,\N,intron_variant,5.029,\N,\N,ESPN
138,1:6487372:C>T,NM_031475.2:c.295-914C>T,\N,\N,1/12,Unknown significance,\N,intron_variant,5.23,0.0008,1KG_AFR_AF,ESPN
139,1:6487411:C>T,NM_031475.2:c.295-875C>T,\N,\N,1/12,Unknown significance,\N,intron_variant,4.905,0.001,1KG_EAS_AF,ESPN
140,1:6487435:C>T,NM_031475.2:c.295-851C>T,\N,\N,1/12,Benign,\N,intron_variant,5.187,0.0575,1KG_AFR_AF,ESPN
141,1:6487439:T>C,NM_031475.2:c.295-847T>C,\N,\N,1/12,Benign,\N,intron_variant,0.087,0.0143,1KG_SAS_AF,ESPN
142,1:6487458:G>T,NM_031475.2:c.295-828G>T,\N,\N,1/12,Unknown significance,\N,intron_variant,4.957,0.0045,1KG_AFR_AF,ESPN
143,1:6487462:C>T,NM_031475.2:c.295-824C>T,\N,\N,1/12,Unknown significance,\N,intron_variant,6.107,\N,\N,ESPN
144,1:6487465:A>G,NM_031475.2:c.295-821A>G,\N,\N,1/12,Unknown significance,\N,intron_variant,3.76,\N,\N,ESPN
145,1:6487472:G>T,NM_031475.2:c.295-814G>T,\N,\N,1/12,Unknown significance,\N,intron_variant,3.058,0.001,1KG_EUR_AF,ESPN
146,1:6487474:T>C,NM_031475.2:c.295-812T>C,\N,\N,1/12,Unknown significance,\N,intron_variant,3.13,\N,\N,ESPN
147,1:6487498:G>A,NM_031475.2:c.295-788G>A,\N,\N,1/12,Unknown significance,\N,intron_variant,10.54,0.001,1KG_EAS_AF,ESPN
148,1:6487546:G>A,NM_031475.2:c.295-740G>A,\N,\N,1/12,Unknown significance,\N,intron_variant,1.932,\N,\N,ESPN
149,1:6487576:C>T,NM_031475.2:c.295-710C>T,\N,\N,1/12,Unknown significance,\N,intron_variant,5.966,\N,\N,ESPN
150,1:6487577:ACTAGCCTGCAC>A,NM_031475.2:c.295-703_295-693del,\N,\N,1/12,Unknown significance,\N,intron_variant,\N,\N,\N,ESPN
151,1:6487602:C>T,NM_031475.2:c.295-684C>T,\N,\N,1/12,Unknown significance,\N,intron_variant,11.23,0.002,1KG_EUR_AF,ESPN
152,1:6487611:C>T,NM_031475.2:c.295-675C>T,\N,\N,1/12,Unknown significance,\N,intron_variant,7.058,0.002,1KG_SAS_AF,ESPN
153,1:6487612:C>T,NM_031475.2:c.295-674C>T,\N,\N,1/12,Unknown significance,\N,intron_variant,1.38,0.0015,1KG_AFR_AF,ESPN
154,1:6487620:C>A,NM_031475.2:c.295-666C>A,\N,\N,1/12,Unknown significance,\N,intron_variant,6.575,0.001,1KG_SAS_AF,ESPN
155,1:6487631:C>T,NM_031475.2:c.295-655C>T,\N,\N,1/12,Unknown significance,\N,intron_variant,10.17,0.001,1KG_SAS_AF,ESPN
156,1:6487654:G>T,NM_031475.2:c.295-632G>T,\N,\N,1/12,Benign,\N,intron_variant,8.206,0.1339,1KG_AFR_AF,ESPN
157,1:6487713:G>A,NM_031475.2:c.295-573G>A,\N,\N,1/12,Benign,\N,intron_variant,5.835,0.0439,1KG_AFR_AF,ESPN
158,1:6487714:G>A,NM_031475.2:c.295-572G>A,\N,\N,1/12,Unknown significance,\N,intron_variant,5.985,\N,\N,ESPN
159,1:6487714:G>GT,NM_031475.2:c.295-568dup,\N,\N,1/12,Unknown significance,\N,intron_variant,\N,\N,\N,ESPN
160,1:6487729:G>A,NM_031475.2:c.295-557G>A,\N,\N,1/12,Unknown significance,\N,intron_variant,5.773,\N,\N,ESPN
161,1:6487745:C>T,NM_031475.2:c.295-541C>T,\N,\N,1/12,Unknown significance,\N,intron_variant,3.032,\N,\N,ESPN
162,1:6487748:A>G,NM_031475.2:c.295-538A>G,\N,\N,1/12,Unknown significance,\N,intron_variant,2.666,0.001,1KG_SAS_AF,ESPN
163,1:6487774:G>A,NM_031475.2:c.295-512G>A,\N,\N,1/12,Unknown significance,\N,intron_variant,8.148,\N,\N,ESPN
164,1:6487779:A>G,NM_031475.2:c.295-507A>G,\N,\N,1/12,Unknown significance,\N,intron_variant,4.689,\N,\N,ESPN
165,1:6487801:G>A,NM_031475.2:c.295-485G>A,\N,\N,1/12,Benign,\N,intron_variant,4.496,0.0347,1KG_EAS_AF,ESPN
166,1:6487818:G>A,NM_031475.2:c.295-468G>A,\N,\N,1/12,Benign,\N,intron_variant,3.638,0.0439,1KG_AFR_AF,ESPN
167,1:6487876:T>C,NM_031475.2:c.295-410T>C,\N,\N,1/12,Unknown significance,\N,intron_variant,0.426,0.002,1KG_EAS_AF,ESPN
168,1:6487878:G>T,NM_031475.2:c.295-408G>T,\N,\N,1/12,Unknown significance,\N,intron_variant,2.698,\N,\N,ESPN
169,1:6487921:C>T,NM_031475.2:c.295-365C>T,\N,\N,1/12,Unknown significance,\N,intron_variant,6.235,\N,\N,ESPN
170,1:6487934:G>A,NM_031475.2:c.295-352G>A,\N,\N,1/12,Unknown significance,\N,intron_variant,5.108,0.0008,1KG_AFR_AF,ESPN
171,1:6487955:G>A,NM_031475.2:c.295-331G>A,\N,\N,1/12,Unknown significance,\N,intron_variant,4.771,0.001,1KG_SAS_AF,ESPN
172,1:6487977:G>A,NM_031475.2:c.295-309G>A,\N,\N,1/12,Benign,\N,intron_variant,3.785,0.3215,1KG_AFR_AF,ESPN
173,1:6487995:T>A,NM_031475.2:c.295-291T>A,\N,\N,1/12,Unknown significance,\N,intron_variant,1.55,\N,\N,ESPN
174,1:6488033:A>G,NM_031475.2:c.295-253A>G,\N,\N,1/12,Unknown significance,\N,intron_variant,11.51,\N,\N,ESPN
175,1:6488058:G>A,NM_031475.2:c.295-228G>A,\N,\N,1/12,Unknown significance,\N,intron_variant,5.328,\N,\N,ESPN
176,1:6488088:C>T,NM_031475.2:c.295-198C>T,\N,\N,1/12,Benign,\N,intron_variant,6.313,0.0179,1KG_EUR_AF,ESPN
177,1:6488089:C>T,NM_031475.2:c.295-197C>T,\N,\N,1/12,Unknown significance,\N,intron_variant,6.343,\N,\N,ESPN
178,1:6488100:A>G,NM_031475.2:c.295-186A>G,\N,\N,1/12,Unknown significance,\N,intron_variant,2.343,0.0015,1KG_AFR_AF,ESPN
179,1:6488121:C>A,NM_031475.2:c.295-165C>A,\N,\N,1/12,Unknown significance,\N,intron_variant,8.893,0.0008,1KG_AFR_AF,ESPN
180,1:6488122:C>T,NM_031475.2:c.295-164C>T,\N,\N,1/12,Unknown significance,\N,intron_variant,5.408,0.001,1KG_EUR_AF,ESPN
181,1:6488123:G>A,NM_031475.2:c.295-163G>A,\N,\N,1/12,Benign,\N,intron_variant,2.572,0.093,1KG_SAS_AF,ESPN
182,1:6488131:C>CA,NM_031475.2:c.295-147dup,\N,\N,1/12,Benign,\N,intron_variant,9.388,0.0182,1KG_AFR_AF,ESPN
183,1:6488131:C>T,NM_031475.2:c.295-155C>T,\N,\N,1/12,Unknown significance,\N,intron_variant,0.743,\N,\N,ESPN
184,1:6488163:A>G,NM_031475.2:c.295-123A>G,\N,\N,1/12,Unknown significance,\N,intron_variant,5.16,\N,\N,ESPN
185,1:6488197:C>CT,NM_031475.2:c.295-87dup,\N,\N,1/12,Benign,\N,intron_variant,8.282,0.0197,1KG_AFR_AF,ESPN
186,1:6488233:CA>C,NM_031475.2:c.295-52del,\N,\N,1/12,Unknown significance,\N,intron_variant,\N,\N,\N,ESPN
187,1:6488237:G>A,NM_031475.2:c.295-49G>A,\N,\N,1/12,Unknown significance,\N,intron_variant,4.327,0.0000605767,EXAC_SAS_AF,ESPN
188,1:6488239:C>A,NM_031475.2:c.295-47C>A,\N,\N,1/12,Unknown significance,\N,intron_variant,7.417,0.0041,1KG_SAS_AF,ESPN
189,1:6488239:C>T,NM_031475.2:c.295-47C>T,\N,\N,1/12,Unknown significance,\N,intron_variant,7.311,0.002,1KG_SAS_AF,ESPN
190,1:6488239:CG>C,NM_031475.2:c.295-43del,\N,\N,1/12,Unknown significance,\N,intron_variant,3.444,0.0000980584,EXAC_AFR_AF,ESPN
191,1:6488240:G>A,NM_031475.2:c.295-46G>A,\N,\N,1/12,Benign,\N,intron_variant,3.694,0.00784753,EXAC_OTH_AF,ESPN
192,1:6488243:G>GC,NM_031475.2:c.295-42dup,\N,\N,1/12,Unknown significance,\N,intron_variant,0.894,0.000115794,EXAC_EAS_AF,ESPN
193,1:6488246:G>T,NM_031475.2:c.295-40G>T,\N,\N,1/12,Unknown significance,\N,intron_variant,0.668,\N,\N,ESPN
194,1:6488253:G>A,NM_031475.2:c.295-33G>A,\N,\N,1/12,Unknown significance,\N,intron_variant,3.593,0.0008,1KG_AFR_AF,ESPN
195,1:6488259:G>A,NM_031475.2:c.295-27G>A,\N,\N,1/12,Unknown significance,\N,intron_variant,3.621,0.0000152239,EXAC_NFE_AF,ESPN
196,1:6488260:G>A,NM_031475.2:c.295-26G>A,\N,\N,1/12,Unknown significance,\N,intron_variant,4.324,0.000226963,EVS_AA_AF,ESPN
197,1:6488270:A>C,NM_031475.2:c.295-16A>C,\N,\N,1/12,Unknown significance,\N,intron_variant,0.229,0.0000972573,EXAC_AFR_AF,ESPN
198,1:6488274:C>G,NM_031475.2:c.295-12C>G,\N,\N,1/12,Unknown significance,\N,intron_variant,8.434,0.000115741,EXAC_EAS_AF,ESPN
199,1:6488275:T>G,NM_031475.2:c.295-11T>G,\N,\N,1/12,Unknown significance,\N,intron_variant,9.315,0.001,1KG_SAS_AF,ESPN
200,1:6488277:C>G,NM_031475.2:c.295-9C>G,\N,\N,1/12,Unknown significance,\N,intron_variant,9.721,\N,\N,ESPN
201,1:6488277:C>T,NM_031475.2:c.295-9C>T,\N,\N,1/12,Unknown significance,\N,intron_variant,10.98,0.0000605767,EXAC_SAS_AF,ESPN
202,1:6488279:C>T,NM_031475.2:c.295-7C>T,\N,\N,1/12,Unknown significance,\N,splice_region_variant&intron_variant,11.44,0.000015193,EXAC_NFE_AF,ESPN
203,1:6488288:C>A,NM_031475.2:c.297C>A,NP_113663.2:p.Asp99Glu,2/13,\N,Likely benign,\N,missense_variant&splice_region_variant,21.4,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,ESPN
204,1:6488296:A>G,NM_031475.2:c.305A>G,NP_113663.2:p.Asn102Ser,2/13,\N,Unknown significance,\N,missense_variant,23,0.0000303398,EXAC_NFE_AF,ESPN
205,1:6488321:G>A,NM_031475.2:c.330G>A,NP_113663.2:p.Leu110=,2/13,\N,Unknown significance,\N,synonymous_variant,10.79,0.000226963,EVS_AA_AF,ESPN
206,1:6488328:C>T,NM_031475.2:c.337C>T,NP_113663.2:p.Arg113Cys,2/13,\N,Benign,\N,missense_variant,35,0.00625,OTO_CO_AF,ESPN
207,1:6488329:G>A,NM_031475.2:c.338G>A,NP_113663.2:p.Arg113His,2/13,\N,Unknown significance,\N,missense_variant,34,0.000303104,EXAC_NFE_AF,ESPN
208,1:6488333:C>T,NM_031475.2:c.342C>T,NP_113663.2:p.Phe114=,2/13,\N,Unknown significance,\N,synonymous_variant,17.04,0.0000151612,EXAC_NFE_AF,ESPN
209,1:6488334:G>A,NM_031475.2:c.343G>A,NP_113663.2:p.Gly115Ser,2/13,\N,Unknown significance,\N,missense_variant,26.3,0.000115741,EXAC_EAS_AF,ESPN
210,1:6488334:G>C,NM_031475.2:c.343G>C,NP_113663.2:p.Gly115Arg,2/13,\N,Unknown significance,\N,missense_variant,32,0.0000970874,EXAC_AFR_AF,ESPN
211,1:6488338:A>C,NM_031475.2:c.347A>C,NP_113663.2:p.His116Pro,2/13,\N,Unknown significance,\N,missense_variant,26.4,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,ESPN
212,1:6488339:C>T,NM_031475.2:c.348C>T,NP_113663.2:p.His116=,2/13,\N,Unknown significance,\N,synonymous_variant,13.64,0.000151194,EXAC_FIN_AF,ESPN
213,1:6488341:C>T,NM_031475.2:c.350C>T,NP_113663.2:p.Pro117Leu,2/13,\N,Unknown significance,\N,missense_variant,23.8,0.001,1KG_SAS_AF,ESPN
214,1:6488342:C>T,NM_031475.2:c.351C>T,NP_113663.2:p.Pro117=,2/13,\N,Unknown significance,\N,synonymous_variant,18.76,0.00019425,EXAC_AFR_AF,ESPN
215,1:6488343:G>A,NM_031475.2:c.352G>A,NP_113663.2:p.Glu118Lys,2/13,\N,Unknown significance,\N,missense_variant,23.9,0.000115741,EXAC_EAS_AF,ESPN
216,1:6488347:T>G,NM_031475.2:c.356T>G,NP_113663.2:p.Val119Gly,2/13,\N,Unknown significance,\N,missense_variant,27.5,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,ESPN
217,1:6488366:T>A,NM_031475.2:c.375T>A,NP_113663.2:p.His125Gln,2/13,\N,Likely benign,\N,missense_variant,9.531,0.0000605767,EXAC_SAS_AF,ESPN
218,1:6488369:TG>T,NM_031475.2:c.380del,NP_113663.2:p.Gly127AlafsTer28,2/13,\N,Unknown significance,\N,frameshift_variant,32,0.0000152128,EXAC_NFE_AF,ESPN
219,1:6488370:G>C,NM_031475.2:c.379G>C,NP_113663.2:p.Gly127Arg,2/13,\N,Unknown significance,\N,missense_variant,26.4,\N,\N,ESPN
220,1:6488372:C>T,NM_031475.2:c.381C>T,NP_113663.2:p.Gly127=,2/13,\N,Unknown significance,\N,synonymous_variant,19.12,0.0014,1KG_AMR_AF,ESPN
221,1:6488373:G>T,NM_031475.2:c.382G>T,NP_113663.2:p.Gly128Cys,2/13,\N,Unknown significance,\N,missense_variant,26.7,\N,\N,ESPN
222,1:6488373:G>A,NM_031475.2:c.382G>A,NP_113663.2:p.Gly128Ser,2/13,\N,Likely benign,\N,missense_variant,20.3,0.0014,1KG_AMR_AF,ESPN
223,1:6488375:T>G,NM_031475.2:c.384T>G,NP_113663.2:p.Gly128=,2/13,\N,Unknown significance,\N,synonymous_variant,9.357,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,ESPN
224,1:6488380:A>C,NM_031475.2:c.389A>C,NP_113663.2:p.Asp130Ala,2/13,\N,Benign,\N,missense_variant,23.4,0.04,OTO_TR_AF,ESPN
225,1:6488381:C>G,NM_031475.2:c.390C>G,NP_113663.2:p.Asp130Glu,2/13,\N,Likely benign,\N,missense_variant,15.02,0.000116279,EVS_EA_AF,ESPN
226,1:6488381:C>T,NM_031475.2:c.390C>T,NP_113663.2:p.Asp130=,2/13,\N,Unknown significance,\N,synonymous_variant,13.76,0.000115848,EXAC_EAS_AF,ESPN
227,1:6488385:A>C,NM_031475.2:c.394A>C,NP_113663.2:p.Thr132Pro,2/13,\N,Benign,\N,missense_variant,19.95,0.015,OTO_TR_AF,ESPN
228,1:6488387:C>T,NM_031475.2:c.396C>T,NP_113663.2:p.Thr132=,2/13,\N,Unknown significance,\N,synonymous_variant,18,0.00138122,EXAC_AFR_AF,ESPN
229,1:6488388:G>A,NM_031475.2:c.397G>A,NP_113663.2:p.Ala133Thr,2/13,\N,Likely benign,\N,missense_variant,14.8,0.000121197,EXAC_SAS_AF,ESPN
230,1:6488388:G>C,NM_031475.2:c.397G>C,NP_113663.2:p.Ala133Pro,2/13,\N,Likely benign,\N,missense_variant,23,0.0000152915,EXAC_NFE_AF,ESPN
231,1:6488389:C>T,NM_031475.2:c.398C>T,NP_113663.2:p.Ala133Val,2/13,\N,Likely benign,\N,missense_variant,10.41,0.0025,OTO_JP_AF,ESPN
232,1:6488390:G>A,NM_031475.2:c.399G>A,NP_113663.2:p.Ala133=,2/13,\N,Unknown significance,\N,synonymous_variant,14.32,0.000116279,EVS_EA_AF,ESPN
233,1:6488397:G>C,NM_031475.2:c.406G>C,NP_113663.2:p.Asp136His,2/13,\N,Unknown significance,\N,missense_variant,27.5,0.000030581,EXAC_NFE_AF,ESPN
234,1:6488398:A>G,NM_031475.2:c.407A>G,NP_113663.2:p.Asp136Gly,2/13,\N,Unknown significance,\N,missense_variant,27.5,0.000152161,EXAC_FIN_AF,ESPN
235,1:6488399:C>T,NM_031475.2:c.408C>T,NP_113663.2:p.Asp136=,2/13,\N,Unknown significance,\N,synonymous_variant,13.27,0.0000867303,EXAC_AMR_AF,ESPN
236,1:6488400:A>G,NM_031475.2:c.409A>G,NP_113663.2:p.Met137Val,2/13,\N,Likely benign,\N,missense_variant,13.67,0.000015298,EXAC_NFE_AF,ESPN
237,1:6488404:G>T,NM_031475.2:c.413G>T,NP_113663.2:p.Gly138Val,2/13,\N,Unknown significance,\N,missense_variant,27.8,0.000122463,EXAC_NFE_AF,ESPN
238,1:6488405:C>T,NM_031475.2:c.414C>T,NP_113663.2:p.Gly138=,2/13,\N,Unknown significance,\N,synonymous_variant,15.24,0.000121256,EXAC_SAS_AF,ESPN
239,1:6488406:G>A,NM_031475.2:c.415G>A,NP_113663.2:p.Ala139Thr,2/13,\N,Unknown significance,\N,missense_variant,29.4,0.000197511,EXAC_AFR_AF,ESPN
240,1:6488406:G>C,NM_031475.2:c.415G>C,NP_113663.2:p.Ala139Pro,2/13,\N,Unknown significance,\N,missense_variant,28,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,ESPN
241,1:6488408:C>T,NM_031475.2:c.417C>T,NP_113663.2:p.Ala139=,2/13,\N,Unknown significance,\N,synonymous_variant,16.78,0.0000153191,EXAC_NFE_AF,ESPN
242,1:6488413:C>T,NM_031475.2:c.422C>T,NP_113663.2:p.Pro141Leu,2/13,\N,Unknown significance,\N,missense_variant,29,\N,\N,ESPN
243,1:6488418:C>T,NM_031475.2:c.427C>T,NP_113663.2:p.His143Tyr,2/13,\N,Unknown significance,\N,missense_variant,27.5,0.000121359,EXAC_SAS_AF,ESPN
244,1:6488423:C>T,NM_031475.2:c.432C>T,NP_113663.2:p.Tyr144=,2/13,\N,Unknown significance,\N,synonymous_variant,11.88,0.000231535,EXAC_EAS_AF,ESPN
245,1:6488429:C>T,NM_031475.2:c.438C>T,NP_113663.2:p.Ala146=,2/13,\N,Unknown significance,\N,synonymous_variant,20.9,0.000231535,EXAC_EAS_AF,ESPN
246,1:6488430:G>A,NM_031475.2:c.439G>A,NP_113663.2:p.Ala147Thr,2/13,\N,Unknown significance,\N,missense_variant,33,\N,\N,ESPN
247,1:6488433:A>C,NM_031475.2:c.442A>C,NP_113663.2:p.Lys148Gln,2/13,\N,Unknown significance,\N,missense_variant,26.1,0.0000152295,EXAC_NFE_AF,ESPN
248,1:6488439:G>A,NM_031475.2:c.448G>A,NP_113663.2:p.Asp150Asn,2/13,\N,Unknown significance,\N,missense_variant,26.9,0.0000152388,EXAC_NFE_AF,ESPN
249,1:6488442:T>A,NM_031475.2:c.451T>A,NP_113663.2:p.Phe151Ile,2/13,\N,Likely benign,\N,missense_variant,27.3,0.000227066,EVS_AA_AF,ESPN
250,1:6488442:T>C,NM_031475.2:c.451T>C,NP_113663.2:p.Phe151Leu,2/13,\N,Likely benign,\N,missense_variant,11.74,0.0000152458,EXAC_NFE_AF,ESPN
251,1:6488444:C>G,NM_031475.2:c.453C>G,NP_113663.2:p.Phe151Leu,2/13,\N,Likely benign,\N,missense_variant,16.1,0.0000152458,EXAC_NFE_AF,ESPN
252,1:6488447:C>T,NM_031475.2:c.456C>T,NP_113663.2:p.Pro152=,2/13,\N,Unknown significance,\N,synonymous_variant,15.1,0.0000762683,EXAC_NFE_AF,ESPN
253,1:6488453:G>A,NM_031475.2:c.462G>A,NP_113663.2:p.Leu154=,2/13,\N,Unknown significance,\N,synonymous_variant,12.08,0.0000305465,EXAC_NFE_AF,ESPN
254,1:6488458:T>C,NM_031475.2:c.467T>C,NP_113663.2:p.Leu156Pro,2/13,\N,Unknown significance,\N,missense_variant,25.4,\N,\N,ESPN
255,1:6488462:C>T,NM_031475.2:c.471C>T,NP_113663.2:p.Leu157=,2/13,\N,Unknown significance,\N,synonymous_variant,17.44,0.0000639877,EXAC_SAS_AF,ESPN
256,1:6488463:G>A,NM_031475.2:c.472G>A,NP_113663.2:p.Val158Ile,2/13,\N,Likely benign,\N,missense_variant,0.197,0.000232612,EVS_EA_AF,ESPN
257,1:6488465:C>T,NM_031475.2:c.474C>T,NP_113663.2:p.Val158=,2/13,\N,Unknown significance,\N,synonymous_variant,18.21,0.000116306,EVS_EA_AF,ESPN
258,1:6488466:G>A,NM_031475.2:c.475G>A,NP_113663.2:p.Glu159Lys,2/13,\N,Likely benign,\N,missense_variant,18.18,0.0000869112,EXAC_AMR_AF,ESPN
259,1:6488469:CA>C,NM_031475.2:c.479del,NP_113663.2:p.His160ProfsTer6,2/13,\N,Unknown significance,\N,frameshift_variant,27.1,\N,\N,ESPN
260,1:6488471:C>T,NM_031475.2:c.480C>T,NP_113663.2:p.His160=,2/13,\N,Unknown significance,\N,synonymous_variant,11.92,0.0000870019,EXAC_AMR_AF,ESPN
261,1:6488488:A>C,NM_031475.2:c.488+9A>C,\N,\N,2/12,Benign,\N,intron_variant,10.53,0.00625,OTO_US_AF,ESPN
262,1:6488491:C>T,NM_031475.2:c.488+12C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,13.17,\N,\N,ESPN
263,1:6488496:T>C,NM_031475.2:c.488+17T>C,\N,\N,2/12,Unknown significance,\N,intron_variant,3.345,0.000118906,EXAC_EAS_AF,ESPN
264,1:6488501:G>T,NM_031475.2:c.488+22G>T,\N,\N,2/12,Unknown significance,\N,intron_variant,2.457,0.0000159673,EXAC_NFE_AF,ESPN
265,1:6488502:G>A,NM_031475.2:c.488+23G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,4.549,0.0008,1KG_AFR_AF,ESPN
266,1:6488504:C>A,NM_031475.2:c.488+25C>A,\N,\N,2/12,Unknown significance,\N,intron_variant,2.207,0.00031746,EXAC_AFR_AF,ESPN
267,1:6488504:C>T,NM_031475.2:c.488+25C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,1.697,0.0000893655,EXAC_AMR_AF,ESPN
268,1:6488505:C>T,NM_031475.2:c.488+26C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,4.859,0.0008,1KG_AFR_AF,ESPN
269,1:6488508:T>C,NM_031475.2:c.488+29T>C,\N,\N,2/12,Unknown significance,\N,intron_variant,2.813,0.00125313,EXAC_OTH_AF,ESPN
270,1:6488508:T>TGGGTG,NM_031475.2:c.488+32_488+36dup,\N,\N,2/12,Unknown significance,\N,intron_variant,1.91,0.000160798,EXAC_SAS_AF,ESPN
271,1:6488511:G>A,NM_031475.2:c.488+32G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,3.157,0.0014,1KG_AMR_AF,ESPN
272,1:6488520:G>A,NM_031475.2:c.488+41G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,6.3,0.0000330633,EXAC_NFE_AF,ESPN
273,1:6488520:G>C,NM_031475.2:c.488+41G>C,\N,\N,2/12,Unknown significance,\N,intron_variant,2.674,0.0000165317,EXAC_NFE_AF,ESPN
274,1:6488521:C>A,NM_031475.2:c.488+42C>A,\N,\N,2/12,Unknown significance,\N,intron_variant,4.832,\N,\N,ESPN
275,1:6488521:C>T,NM_031475.2:c.488+42C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,4.817,0.0014,1KG_AMR_AF,ESPN
276,1:6488554:G>A,NM_031475.2:c.488+75G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,4.131,\N,\N,ESPN
277,1:6488632:C>T,NM_031475.2:c.488+153C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,2.281,0.0008,1KG_AFR_AF,ESPN
278,1:6488687:G>A,NM_031475.2:c.488+208G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,2.605,\N,\N,ESPN
279,1:6488709:G>A,NM_031475.2:c.488+230G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,5.272,\N,\N,ESPN
280,1:6488725:G>A,NM_031475.2:c.488+246G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,0.443,\N,\N,ESPN
281,1:6488729:G>A,NM_031475.2:c.488+250G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,2.507,\N,\N,ESPN
282,1:6488733:A>G,NM_031475.2:c.488+254A>G,\N,\N,2/12,Unknown significance,\N,intron_variant,0.181,\N,\N,ESPN
283,1:6488799:G>A,NM_031475.2:c.488+320G>A,\N,\N,2/12,Benign,\N,intron_variant,4.577,0.0121,1KG_AFR_AF,ESPN
284,1:6488834:G>T,NM_031475.2:c.488+355G>T,\N,\N,2/12,Benign,\N,intron_variant,2.047,0.2141,1KG_AFR_AF,ESPN
285,1:6488834:GC>TT,NM_031475.2:c.488+355_488+356delinsTT,\N,\N,2/12,Unknown significance,\N,intron_variant,4.483,\N,\N,ESPN
286,1:6488835:C>T,NM_031475.2:c.488+356C>T,\N,\N,2/12,Benign,\N,intron_variant,4.976,0.2141,1KG_AFR_AF,ESPN
287,1:6488857:G>A,NM_031475.2:c.488+378G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,4.432,\N,\N,ESPN
288,1:6488866:A>G,NM_031475.2:c.488+387A>G,\N,\N,2/12,Unknown significance,\N,intron_variant,5.702,0.002,1KG_SAS_AF,ESPN
289,1:6488878:G>A,NM_031475.2:c.488+399G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,5.585,\N,\N,ESPN
290,1:6488934:T>C,NM_031475.2:c.488+455T>C,\N,\N,2/12,Unknown significance,\N,intron_variant,1.154,\N,\N,ESPN
291,1:6488946:G>T,NM_031475.2:c.488+467G>T,\N,\N,2/12,Unknown significance,\N,intron_variant,0.472,\N,\N,ESPN
292,1:6488950:C>T,NM_031475.2:c.488+471C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,9.224,0.0008,1KG_AFR_AF,ESPN
293,1:6488958:A>G,NM_031475.2:c.488+479A>G,\N,\N,2/12,Benign,\N,intron_variant,14.45,0.3502,1KG_EAS_AF,ESPN
294,1:6489021:A>G,NM_031475.2:c.488+542A>G,\N,\N,2/12,Unknown significance,\N,intron_variant,4.195,0.0014,1KG_AMR_AF,ESPN
295,1:6489042:C>T,NM_031475.2:c.488+563C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,3.462,0.001,1KG_SAS_AF,ESPN
296,1:6489078:C>T,NM_031475.2:c.488+599C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,6.771,\N,\N,ESPN
297,1:6489083:T>C,NM_031475.2:c.488+604T>C,\N,\N,2/12,Unknown significance,\N,intron_variant,0.292,0.001,1KG_EAS_AF,ESPN
298,1:6489122:G>GT,NM_031475.2:c.488+644dup,\N,\N,2/12,Unknown significance,\N,intron_variant,\N,\N,\N,ESPN
299,1:6489125:A>T,NM_031475.2:c.488+646A>T,\N,\N,2/12,Unknown significance,\N,intron_variant,0.82,0.0014,1KG_AMR_AF,ESPN
300,1:6489150:T>C,NM_031475.2:c.488+671T>C,\N,\N,2/12,Benign,\N,intron_variant,1.844,0.0053,1KG_AFR_AF,ESPN
301,1:6489154:GGGGA>G,NM_031475.2:c.488+696_488+699del,\N,\N,2/12,Benign,\N,intron_variant,1.186,0.127,1KG_EAS_AF,ESPN
302,1:6489154:GGGGAGGGA>G,NM_031475.2:c.488+692_488+699del,\N,\N,2/12,Benign,\N,intron_variant,0.867,0.0832,1KG_AFR_AF,ESPN
303,1:6489177:G>A,NM_031475.2:c.488+698G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,0.838,\N,\N,ESPN
304,1:6489228:C>T,NM_031475.2:c.488+749C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,0.18,0.0008,1KG_AFR_AF,ESPN
305,1:6489233:G>C,NM_031475.2:c.488+754G>C,\N,\N,2/12,Unknown significance,\N,intron_variant,0.036,0.003,1KG_EAS_AF,ESPN
306,1:6489270:G>C,NM_031475.2:c.488+791G>C,\N,\N,2/12,Benign,\N,intron_variant,2.016,0.0051,1KG_SAS_AF,ESPN
307,1:6489278:G>A,NM_031475.2:c.488+799G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,0.594,0.0008,1KG_AFR_AF,ESPN
308,1:6489290:G>C,NM_031475.2:c.488+811G>C,\N,\N,2/12,Unknown significance,\N,intron_variant,0.156,\N,\N,ESPN
309,1:6489317:A>G,NM_031475.2:c.488+838A>G,\N,\N,2/12,Benign,\N,intron_variant,4.588,0.1278,1KG_AFR_AF,ESPN
310,1:6489364:C>T,NM_031475.2:c.488+885C>T,\N,\N,2/12,Benign,\N,intron_variant,4.308,0.2973,1KG_AFR_AF,ESPN
311,1:6489390:T>G,NM_031475.2:c.488+911T>G,\N,\N,2/12,Unknown significance,\N,intron_variant,3.775,\N,\N,ESPN
312,1:6489408:G>T,NM_031475.2:c.488+929G>T,\N,\N,2/12,Unknown significance,\N,intron_variant,0.543,0.001,1KG_SAS_AF,ESPN
313,1:6489409:A>G,NM_031475.2:c.488+930A>G,\N,\N,2/12,Unknown significance,\N,intron_variant,2.342,\N,\N,ESPN
314,1:6489461:C>T,NM_031475.2:c.488+982C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,6.236,\N,\N,ESPN
315,1:6489474:G>A,NM_031475.2:c.488+995G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,1.053,\N,\N,ESPN
316,1:6489533:C>T,NM_031475.2:c.488+1054C>T,\N,\N,2/12,Benign,\N,intron_variant,9.668,0.031,1KG_AFR_AF,ESPN
317,1:6489540:T>C,NM_031475.2:c.488+1061T>C,\N,\N,2/12,Benign,\N,intron_variant,8.534,0.0427,1KG_EUR_AF,ESPN
318,1:6489547:G>C,NM_031475.2:c.488+1068G>C,\N,\N,2/12,Benign,\N,intron_variant,0.666,0.3094,1KG_AFR_AF,ESPN
319,1:6489576:C>T,NM_031475.2:c.488+1097C>T,\N,\N,2/12,Benign,\N,intron_variant,2.325,0.6271,1KG_AFR_AF,ESPN
320,1:6489582:C>T,NM_031475.2:c.488+1103C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,1.412,\N,\N,ESPN
321,1:6489669:G>T,NM_031475.2:c.488+1190G>T,\N,\N,2/12,Benign,\N,intron_variant,2.555,0.0076,1KG_AFR_AF,ESPN
322,1:6489701:G>A,NM_031475.2:c.488+1222G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,2.529,\N,\N,ESPN
323,1:6489704:C>T,NM_031475.2:c.488+1225C>T,\N,\N,2/12,Benign,\N,intron_variant,5.546,0.0174,1KG_SAS_AF,ESPN
324,1:6489705:G>A,NM_031475.2:c.488+1226G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,0.772,0.0023,1KG_AFR_AF,ESPN
325,1:6489714:A>G,NM_031475.2:c.488+1235A>G,\N,\N,2/12,Unknown significance,\N,intron_variant,0.608,\N,\N,ESPN
326,1:6489719:C>A,NM_031475.2:c.488+1240C>A,\N,\N,2/12,Unknown significance,\N,intron_variant,7.971,\N,\N,ESPN
327,1:6489740:G>A,NM_031475.2:c.488+1261G>A,\N,\N,2/12,Benign,\N,intron_variant,1.867,0.0486,1KG_EAS_AF,ESPN
328,1:6489743:A>G,NM_031475.2:c.488+1264A>G,\N,\N,2/12,Unknown significance,\N,intron_variant,3.179,\N,\N,ESPN
329,1:6489750:G>A,NM_031475.2:c.488+1271G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,2.222,\N,\N,ESPN
330,1:6489764:G>C,NM_031475.2:c.488+1285G>C,\N,\N,2/12,Unknown significance,\N,intron_variant,0.451,\N,\N,ESPN
331,1:6489772:G>A,NM_031475.2:c.488+1293G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,2.292,\N,\N,ESPN
332,1:6489773:T>C,NM_031475.2:c.488+1294T>C,\N,\N,2/12,Unknown significance,\N,intron_variant,0.042,\N,\N,ESPN
333,1:6489782:C>T,NM_031475.2:c.488+1303C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,5.592,\N,\N,ESPN
334,1:6489783:G>A,NM_031475.2:c.488+1304G>A,\N,\N,2/12,Benign,\N,intron_variant,2.296,0.0665,1KG_EAS_AF,ESPN
335,1:6489827:A>ACGCC,NM_031475.2:c.488+1350_488+1353dup,\N,\N,2/12,Benign,\N,intron_variant,0.906,0.0106,1KG_AFR_AF,ESPN
336,1:6489828:C>T,NM_031475.2:c.488+1349C>T,\N,\N,2/12,Benign,\N,intron_variant,4.284,0.0076,1KG_AFR_AF,ESPN
337,1:6489842:C>T,NM_031475.2:c.488+1363C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,6.083,0.003,1KG_EAS_AF,ESPN
338,1:6489844:G>A,NM_031475.2:c.488+1365G>A,\N,\N,2/12,Benign,\N,intron_variant,4.253,0.00540541,EXAC_AFR_AF,ESPN
339,1:6489854:G>A,NM_031475.2:c.488+1375G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,3.151,\N,\N,ESPN
340,1:6489866:C>T,NM_031475.2:c.488+1387C>T,\N,\N,2/12,Benign,\N,intron_variant,3.739,0.195187,EXAC_AFR_AF,ESPN
341,1:6489878:G>A,NM_031475.2:c.488+1399G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,6.039,\N,\N,ESPN
342,1:6489883:G>C,NM_031475.2:c.488+1404G>C,\N,\N,2/12,Unknown significance,\N,intron_variant,0.386,0.0031,1KG_SAS_AF,ESPN
343,1:6489901:C>T,NM_031475.2:c.488+1422C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,6.3,0.001,1KG_SAS_AF,ESPN
344,1:6489910:T>C,NM_031475.2:c.488+1431T>C,\N,\N,2/12,Unknown significance,\N,intron_variant,2.438,\N,\N,ESPN
345,1:6489914:T>C,NM_031475.2:c.488+1435T>C,\N,\N,2/12,Unknown significance,\N,intron_variant,0.772,\N,\N,ESPN
346,1:6489958:G>C,NM_031475.2:c.488+1479G>C,\N,\N,2/12,Unknown significance,\N,intron_variant,12.81,0.0008,1KG_AFR_AF,ESPN
347,1:6489960:G>A,NM_031475.2:c.488+1481G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,14.97,\N,\N,ESPN
348,1:6489967:T>C,NM_031475.2:c.488+1488T>C,\N,\N,2/12,Benign,\N,intron_variant,15.78,0.0151,1KG_AFR_AF,ESPN
349,1:6490016:G>A,NM_031475.2:c.488+1537G>A,\N,\N,2/12,Benign,\N,intron_variant,2.858,0.1438,1KG_EAS_AF,ESPN
350,1:6490026:C>T,NM_031475.2:c.488+1547C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,3.042,0.001,1KG_SAS_AF,ESPN
351,1:6490071:C>T,NM_031475.2:c.488+1592C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,4.166,0.0014,1KG_AMR_AF,ESPN
352,1:6490072:G>A,NM_031475.2:c.488+1593G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,7.45,0.0015,1KG_AFR_AF,ESPN
353,1:6490080:G>A,NM_031475.2:c.488+1601G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,4.93,\N,\N,ESPN
354,1:6490082:C>A,NM_031475.2:c.488+1603C>A,\N,\N,2/12,Unknown significance,\N,intron_variant,3.966,0.0008,1KG_AFR_AF,ESPN
355,1:6490117:C>G,NM_031475.2:c.488+1638C>G,\N,\N,2/12,Unknown significance,\N,intron_variant,3.133,0.002,1KG_EUR_AF,ESPN
356,1:6490129:C>T,NM_031475.2:c.488+1650C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,6.892,\N,\N,ESPN
357,1:6490134:G>C,NM_031475.2:c.488+1655G>C,\N,\N,2/12,Unknown significance,\N,intron_variant,3.536,\N,\N,ESPN
358,1:6490152:C>T,NM_031475.2:c.488+1673C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,4.028,\N,\N,ESPN
359,1:6490225:C>A,NM_031475.2:c.488+1746C>A,\N,\N,2/12,Benign,\N,intron_variant,5.887,0.1536,1KG_AFR_AF,ESPN
360,1:6490280:T>C,NM_031475.2:c.488+1801T>C,\N,\N,2/12,Unknown significance,\N,intron_variant,9.97,0.001,1KG_SAS_AF,ESPN
361,1:6490287:C>T,NM_031475.2:c.488+1808C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,4.369,0.0023,1KG_AFR_AF,ESPN
362,1:6490288:G>A,NM_031475.2:c.488+1809G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,5.362,0.001,1KG_EUR_AF|1KG_SAS_AF,ESPN
363,1:6490325:C>T,NM_031475.2:c.488+1846C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,6.751,0.0008,1KG_AFR_AF,ESPN
364,1:6490327:C>T,NM_031475.2:c.488+1848C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,0.656,\N,\N,ESPN
365,1:6490352:G>A,NM_031475.2:c.488+1873G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,7.619,\N,\N,ESPN
366,1:6490379:C>T,NM_031475.2:c.488+1900C>T,\N,\N,2/12,Benign,\N,intron_variant,12.81,0.056,1KG_AFR_AF,ESPN
367,1:6490386:G>GC,NM_031475.2:c.488+1909dup,\N,\N,2/12,Unknown significance,\N,intron_variant,\N,\N,\N,ESPN
368,1:6490410:G>A,NM_031475.2:c.488+1931G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,6.057,\N,\N,ESPN
369,1:6490427:C>T,NM_031475.2:c.488+1948C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,2.729,\N,\N,ESPN
370,1:6490437:G>C,NM_031475.2:c.488+1958G>C,\N,\N,2/12,Benign,\N,intron_variant,2.154,0.1861,1KG_AFR_AF,ESPN
371,1:6490444:A>G,NM_031475.2:c.488+1965A>G,\N,\N,2/12,Unknown significance,\N,intron_variant,6.6,0.0008,1KG_AFR_AF,ESPN
372,1:6490459:C>T,NM_031475.2:c.488+1980C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,2.682,0.0008,1KG_AFR_AF,ESPN
373,1:6490460:G>A,NM_031475.2:c.488+1981G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,2.737,\N,\N,ESPN
374,1:6490461:G>A,NM_031475.2:c.488+1982G>A,\N,\N,2/12,Benign,\N,intron_variant,6.01,0.034,1KG_AFR_AF,ESPN
375,1:6490463:G>T,NM_031475.2:c.488+1984G>T,\N,\N,2/12,Unknown significance,\N,intron_variant,0.169,0.0008,1KG_AFR_AF,ESPN
376,1:6490487:T>C,NM_031475.2:c.488+2008T>C,\N,\N,2/12,Benign,\N,intron_variant,4.252,0.1861,1KG_AFR_AF,ESPN
377,1:6490488:A>G,NM_031475.2:c.488+2009A>G,\N,\N,2/12,Benign,\N,intron_variant,2.291,0.0121,1KG_AFR_AF,ESPN
378,1:6490512:C>T,NM_031475.2:c.488+2033C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,1.762,0.002,1KG_EAS_AF,ESPN
379,1:6490519:G>A,NM_031475.2:c.488+2040G>A,\N,\N,2/12,Benign,\N,intron_variant,4.923,0.0378,1KG_AFR_AF,ESPN
380,1:6490539:C>T,NM_031475.2:c.488+2060C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,6.599,\N,\N,ESPN
381,1:6490540:G>A,NM_031475.2:c.488+2061G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,2.005,0.0014,1KG_AMR_AF,ESPN
382,1:6490557:G>A,NM_031475.2:c.488+2078G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,0.291,0.0014,1KG_AMR_AF,ESPN
383,1:6490565:C>T,NM_031475.2:c.488+2086C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,4.653,\N,\N,ESPN
384,1:6490566:G>A,NM_031475.2:c.488+2087G>A,\N,\N,2/12,Benign,\N,intron_variant,5.326,0.1853,1KG_AFR_AF,ESPN
385,1:6490571:T>G,NM_031475.2:c.488+2092T>G,\N,\N,2/12,Unknown significance,\N,intron_variant,4.668,\N,\N,ESPN
386,1:6490578:A>G,NM_031475.2:c.488+2099A>G,\N,\N,2/12,Unknown significance,\N,intron_variant,6.955,0.001,1KG_SAS_AF,ESPN
387,1:6490592:G>A,NM_031475.2:c.488+2113G>A,\N,\N,2/12,Benign,\N,intron_variant,9.84,0.1868,1KG_AFR_AF,ESPN
388,1:6490605:C>A,NM_031475.2:c.488+2126C>A,\N,\N,2/12,Unknown significance,\N,intron_variant,6.221,\N,\N,ESPN
389,1:6490613:C>A,NM_031475.2:c.488+2134C>A,\N,\N,2/12,Unknown significance,\N,intron_variant,8.278,0.0008,1KG_AFR_AF,ESPN
390,1:6490616:CA>C,NM_031475.2:c.488+2138del,\N,\N,2/12,Unknown significance,\N,intron_variant,6.467,\N,\N,ESPN
391,1:6490617:A>G,NM_031475.2:c.488+2138A>G,\N,\N,2/12,Unknown significance,\N,intron_variant,3.944,0.004,1KG_EUR_AF,ESPN
392,1:6490632:G>A,NM_031475.2:c.488+2153G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,1.589,0.0043,1KG_AMR_AF,ESPN
393,1:6490665:A>G,NM_031475.2:c.488+2186A>G,\N,\N,2/12,Unknown significance,\N,intron_variant,0.299,0.001,1KG_EUR_AF,ESPN
394,1:6490691:C>T,NM_031475.2:c.488+2212C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,4.99,0.0043,1KG_AMR_AF,ESPN
395,1:6490692:G>T,NM_031475.2:c.488+2213G>T,\N,\N,2/12,Unknown significance,\N,intron_variant,1.515,0.0008,1KG_AFR_AF,ESPN
396,1:6490741:G>A,NM_031475.2:c.488+2262G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,12.33,\N,\N,ESPN
397,1:6490762:C>T,NM_031475.2:c.488+2283C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,0.423,\N,\N,ESPN
398,1:6490763:G>A,NM_031475.2:c.488+2284G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,0.461,0.001,1KG_SAS_AF,ESPN
399,1:6490771:C>T,NM_031475.2:c.488+2292C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,3.636,\N,\N,ESPN
400,1:6490772:G>C,NM_031475.2:c.488+2293G>C,\N,\N,2/12,Unknown significance,\N,intron_variant,0.024,0.0008,1KG_AFR_AF,ESPN
401,1:6490841:A>G,NM_031475.2:c.488+2362A>G,\N,\N,2/12,Unknown significance,\N,intron_variant,0.548,0.001,1KG_EAS_AF,ESPN
402,1:6490847:A>G,NM_031475.2:c.488+2368A>G,\N,\N,2/12,Unknown significance,\N,intron_variant,0.964,0.001,1KG_EUR_AF,ESPN
403,1:6490848:G>A,NM_031475.2:c.488+2369G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,0.264,0.001,1KG_EUR_AF,ESPN
404,1:6490897:C>T,NM_031475.2:c.488+2418C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,1.28,0.001,1KG_EUR_AF,ESPN
405,1:6490898:G>A,NM_031475.2:c.488+2419G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,4.749,\N,\N,ESPN
406,1:6490898:G>T,NM_031475.2:c.488+2419G>T,\N,\N,2/12,Unknown significance,\N,intron_variant,2.798,\N,\N,ESPN
407,1:6490910:T>A,NM_031475.2:c.488+2431T>A,\N,\N,2/12,Unknown significance,\N,intron_variant,3.783,\N,\N,ESPN
408,1:6490926:T>A,NM_031475.2:c.488+2447T>A,\N,\N,2/12,Unknown significance,\N,intron_variant,4.974,\N,\N,ESPN
409,1:6490938:A>C,NM_031475.2:c.488+2459A>C,\N,\N,2/12,Unknown significance,\N,intron_variant,1.365,\N,\N,ESPN
410,1:6490959:C>T,NM_031475.2:c.488+2480C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,6.349,\N,\N,ESPN
411,1:6490962:C>T,NM_031475.2:c.488+2483C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,3.08,0.001,1KG_EUR_AF,ESPN
412,1:6491039:C>T,NM_031475.2:c.488+2560C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,3.855,\N,\N,ESPN
413,1:6491101:T>G,NM_031475.2:c.488+2622T>G,\N,\N,2/12,Unknown significance,\N,intron_variant,4.033,\N,\N,ESPN
414,1:6491143:A>T,NM_031475.2:c.488+2664A>T,\N,\N,2/12,Unknown significance,\N,intron_variant,6.002,\N,\N,ESPN
415,1:6491162:G>A,NM_031475.2:c.488+2683G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,0.137,0.0031,1KG_SAS_AF,ESPN
416,1:6491163:G>A,NM_031475.2:c.488+2684G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,0.506,\N,\N,ESPN
417,1:6491166:A>G,NM_031475.2:c.488+2687A>G,\N,\N,2/12,Unknown significance,\N,intron_variant,2.112,\N,\N,ESPN
418,1:6491206:C>T,NM_031475.2:c.488+2727C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,4.822,\N,\N,ESPN
419,1:6491219:T>G,NM_031475.2:c.488+2740T>G,\N,\N,2/12,Unknown significance,\N,intron_variant,2.03,\N,\N,ESPN
420,1:6491241:C>T,NM_031475.2:c.488+2762C>T,\N,\N,2/12,Benign,\N,intron_variant,4.105,0.0069,1KG_EAS_AF,ESPN
421,1:6491249:C>T,NM_031475.2:c.488+2770C>T,\N,\N,2/12,Benign,\N,intron_variant,4.81,0.1458,1KG_EAS_AF,ESPN
422,1:6491284:A>G,NM_031475.2:c.488+2805A>G,\N,\N,2/12,Unknown significance,\N,intron_variant,4.217,0.001,1KG_SAS_AF,ESPN
423,1:6491309:T>G,NM_031475.2:c.488+2830T>G,\N,\N,2/12,Unknown significance,\N,intron_variant,1.855,\N,\N,ESPN
424,1:6491319:C>G,NM_031475.2:c.488+2840C>G,\N,\N,2/12,Unknown significance,\N,intron_variant,0.036,0.0008,1KG_AFR_AF,ESPN
425,1:6491329:C>T,NM_031475.2:c.488+2850C>T,\N,\N,2/12,Benign,\N,intron_variant,3.477,0.006,1KG_EAS_AF,ESPN
426,1:6491330:G>A,NM_031475.2:c.488+2851G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,1.132,\N,\N,ESPN
427,1:6491339:C>T,NM_031475.2:c.488+2860C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,6.634,0.001,1KG_SAS_AF,ESPN
428,1:6491343:A>G,NM_031475.2:c.488+2864A>G,\N,\N,2/12,Unknown significance,\N,intron_variant,4.063,\N,\N,ESPN
429,1:6491396:C>T,NM_031475.2:c.488+2917C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,2.76,\N,\N,ESPN
430,1:6491397:G>A,NM_031475.2:c.488+2918G>A,\N,\N,2/12,Benign,\N,intron_variant,1.083,0.1263,1KG_AFR_AF,ESPN
431,1:6491402:C>T,NM_031475.2:c.488+2923C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,3.039,0.001,1KG_EUR_AF,ESPN
432,1:6491406:T>C,NM_031475.2:c.488+2927T>C,\N,\N,2/12,Unknown significance,\N,intron_variant,0.229,\N,\N,ESPN
433,1:6491428:G>A,NM_031475.2:c.488+2949G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,3.385,0.001,1KG_SAS_AF,ESPN
434,1:6491434:C>T,NM_031475.2:c.488+2955C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,0.126,\N,\N,ESPN
435,1:6491466:C>G,NM_031475.2:c.488+2987C>G,\N,\N,2/12,Unknown significance,\N,intron_variant,2.872,0.001,1KG_SAS_AF,ESPN
436,1:6491469:A>G,NM_031475.2:c.488+2990A>G,\N,\N,2/12,Unknown significance,\N,intron_variant,3.901,\N,\N,ESPN
437,1:6491475:C>A,NM_031475.2:c.488+2996C>A,\N,\N,2/12,Unknown significance,\N,intron_variant,8.337,0.0015,1KG_AFR_AF,ESPN
438,1:6491495:C>T,NM_031475.2:c.488+3016C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,4.001,0.002,1KG_EAS_AF,ESPN
439,1:6491498:G>C,NM_031475.2:c.488+3019G>C,\N,\N,2/12,Unknown significance,\N,intron_variant,0.15,0.003,1KG_EAS_AF,ESPN
440,1:6491514:C>CA,NM_031475.2:c.488+3040dup,\N,\N,2/12,Unknown significance,\N,intron_variant,\N,\N,\N,ESPN
441,1:6491517:A>G,NM_031475.2:c.488+3038A>G,\N,\N,2/12,Unknown significance,\N,intron_variant,0.385,0.0008,1KG_AFR_AF,ESPN
442,1:6491523:G>T,NM_031475.2:c.488+3044G>T,\N,\N,2/12,Unknown significance,\N,intron_variant,0.556,\N,\N,ESPN
443,1:6491538:G>A,NM_031475.2:c.488+3059G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,0.068,0.001,1KG_EUR_AF,ESPN
444,1:6491543:A>G,NM_031475.2:c.488+3064A>G,\N,\N,2/12,Benign,\N,intron_variant,1.505,0.0308,1KG_EAS_AF,ESPN
445,1:6491547:C>G,NM_031475.2:c.488+3068C>G,\N,\N,2/12,Unknown significance,\N,intron_variant,1.374,0.001,1KG_EAS_AF,ESPN
446,1:6491560:C>A,NM_031475.2:c.488+3081C>A,\N,\N,2/12,Unknown significance,\N,intron_variant,0.118,\N,\N,ESPN
447,1:6491564:G>A,NM_031475.2:c.488+3085G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,2.147,\N,\N,ESPN
448,1:6491566:C>T,NM_031475.2:c.488+3087C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,3.14,\N,\N,ESPN
449,1:6491575:C>T,NM_031475.2:c.488+3096C>T,\N,\N,2/12,Benign,\N,intron_variant,2.676,0.1861,1KG_AFR_AF,ESPN
450,1:6491584:G>A,NM_031475.2:c.488+3105G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,0.088,\N,\N,ESPN
451,1:6491622:C>T,NM_031475.2:c.488+3143C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,0.785,\N,\N,ESPN
452,1:6491667:A>G,NM_031475.2:c.488+3188A>G,\N,\N,2/12,Unknown significance,\N,intron_variant,1.057,\N,\N,ESPN
453,1:6491682:T>C,NM_031475.2:c.488+3203T>C,\N,\N,2/12,Unknown significance,\N,intron_variant,0.155,\N,\N,ESPN
454,1:6491682:T>G,NM_031475.2:c.488+3203T>G,\N,\N,2/12,Benign,\N,intron_variant,0.709,0.0109,1KG_EUR_AF,ESPN
455,1:6491684:C>T,NM_031475.2:c.488+3205C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,2.612,\N,\N,ESPN
456,1:6491687:TCAAAAAAA>T,NM_031475.2:c.488+3209_488+3216del,\N,\N,2/12,Unknown significance,\N,intron_variant,\N,\N,\N,ESPN
457,1:6491687:TCAAAAAAAA>T,NM_031475.2:c.488+3209_488+3217del,\N,\N,2/12,Unknown significance,\N,intron_variant,\N,\N,\N,ESPN
458,1:6491688:C>A,NM_031475.2:c.488+3209C>A,\N,\N,2/12,Unknown significance,\N,intron_variant,0.184,\N,\N,ESPN
459,1:6491688:C>CA,NM_031475.2:c.488+3234dup,\N,\N,2/12,Unknown significance,\N,intron_variant,0.328,\N,\N,ESPN
460,1:6491688:CAAAAAAAA>C,NM_031475.2:c.488+3227_488+3234del,\N,\N,2/12,Unknown significance,\N,intron_variant,\N,\N,\N,ESPN
461,1:6491688:CAAAAAAAAA>C,NM_031475.2:c.488+3226_488+3234del,\N,\N,2/12,Unknown significance,\N,intron_variant,4.344,\N,\N,ESPN
462,1:6491698:A>C,NM_031475.2:c.488+3219A>C,\N,\N,2/12,Unknown significance,\N,intron_variant,0.048,\N,\N,ESPN
463,1:6491713:A>G,NM_031475.2:c.488+3234A>G,\N,\N,2/12,Unknown significance,\N,intron_variant,0.246,\N,\N,ESPN
464,1:6491715:GAAC>G,NM_031475.2:c.488+3237_488+3239del,\N,\N,2/12,Unknown significance,\N,intron_variant,0.398,\N,\N,ESPN
465,1:6491722:C>T,NM_031475.2:c.488+3243C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,1.366,\N,\N,ESPN
466,1:6491722:CGAAA>C,NM_031475.2:c.488+3249_488+3252del,\N,\N,2/12,Unknown significance,\N,intron_variant,\N,\N,\N,ESPN
467,1:6491757:G>GGAAAGAA,NM_031475.2:c.488+3278_488+3279insGAAAGAA,\N,\N,2/12,Unknown significance,\N,intron_variant,\N,\N,\N,ESPN
468,1:6491758:A>G,NM_031475.2:c.488+3279A>G,\N,\N,2/12,Unknown significance,\N,intron_variant,0.667,\N,\N,ESPN
469,1:6491761:A>G,NM_031475.2:c.488+3282A>G,\N,\N,2/12,Unknown significance,\N,intron_variant,2.03,\N,\N,ESPN
470,1:6491800:G>GCACCACCCAGTGT,NM_031475.2:c.488+3324_488+3336dup,\N,\N,2/12,Unknown significance,\N,intron_variant,\N,\N,\N,ESPN
471,1:6491800:GCACCACCCAGTGT>G,NM_031475.2:c.488+3324_488+3336del,\N,\N,2/12,Benign,\N,intron_variant,5.651,0.1438,1KG_EAS_AF,ESPN
472,1:6491822:C>T,NM_031475.2:c.488+3343C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,4.616,\N,\N,ESPN
473,1:6491836:C>T,NM_031475.2:c.488+3357C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,1.421,0.0015,1KG_AFR_AF,ESPN
474,1:6491960:T>G,NM_031475.2:c.488+3481T>G,\N,\N,2/12,Unknown significance,\N,intron_variant,1.648,\N,\N,ESPN
475,1:6491964:C>T,NM_031475.2:c.488+3485C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,2.448,0.0014,1KG_AMR_AF,ESPN
476,1:6491970:C>G,NM_031475.2:c.488+3491C>G,\N,\N,2/12,Unknown significance,\N,intron_variant,0.702,\N,\N,ESPN
477,1:6492030:C>T,NM_031475.2:c.488+3551C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,5.926,\N,\N,ESPN
478,1:6492073:C>T,NM_031475.2:c.488+3594C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,3.147,\N,\N,ESPN
479,1:6492101:G>A,NM_031475.2:c.488+3622G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,10.59,0.003,1KG_EAS_AF,ESPN
480,1:6492111:C>T,NM_031475.2:c.488+3632C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,11.98,0.0015,1KG_AFR_AF,ESPN
481,1:6492134:G>A,NM_031475.2:c.488+3655G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,2.015,0.001,1KG_EAS_AF,ESPN
482,1:6492166:G>C,NM_031475.2:c.488+3687G>C,\N,\N,2/12,Unknown significance,\N,intron_variant,0.104,\N,\N,ESPN
483,1:6492172:T>C,NM_031475.2:c.488+3693T>C,\N,\N,2/12,Unknown significance,\N,intron_variant,0.148,0.001,1KG_EAS_AF,ESPN
484,1:6492215:C>G,NM_031475.2:c.488+3736C>G,\N,\N,2/12,Unknown significance,\N,intron_variant,0.097,0.001,1KG_SAS_AF,ESPN
485,1:6492238:C>G,NM_031475.2:c.488+3759C>G,\N,\N,2/12,Unknown significance,\N,intron_variant,1.986,\N,\N,ESPN
486,1:6492243:G>A,NM_031475.2:c.488+3764G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,2.819,0.0023,1KG_AFR_AF,ESPN
487,1:6492248:A>C,NM_031475.2:c.488+3769A>C,\N,\N,2/12,Unknown significance,\N,intron_variant,0.221,\N,\N,ESPN
488,1:6492250:C>CT,NM_031475.2:c.488+3771_488+3772insT,\N,\N,2/12,Unknown significance,\N,intron_variant,\N,\N,\N,ESPN
489,1:6492255:G>A,NM_031475.2:c.488+3776G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,2.604,\N,\N,ESPN
490,1:6492311:G>C,NM_031475.2:c.488+3832G>C,\N,\N,2/12,Benign,\N,intron_variant,1.25,0.0121,1KG_AFR_AF,ESPN
491,1:6492320:G>T,NM_031475.2:c.488+3841G>T,\N,\N,2/12,Unknown significance,\N,intron_variant,2.959,\N,\N,ESPN
492,1:6492327:G>A,NM_031475.2:c.488+3848G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,2.476,0.001,1KG_EAS_AF,ESPN
493,1:6492333:C>T,NM_031475.2:c.488+3854C>T,\N,\N,2/12,Benign,\N,intron_variant,3.401,0.091,1KG_SAS_AF,ESPN
494,1:6492346:A>G,NM_031475.2:c.488+3867A>G,\N,\N,2/12,Benign,\N,intron_variant,3.488,0.5461,1KG_AFR_AF,ESPN
495,1:6492351:C>T,NM_031475.2:c.488+3872C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,2.671,\N,\N,ESPN
496,1:6492414:G>C,NM_031475.2:c.488+3935G>C,\N,\N,2/12,Benign,\N,intron_variant,0.624,0.006,1KG_EAS_AF,ESPN
497,1:6492450:G>A,NM_031475.2:c.488+3971G>A,\N,\N,2/12,Benign,\N,intron_variant,0.832,0.0076,1KG_AFR_AF,ESPN
498,1:6492483:C>T,NM_031475.2:c.488+4004C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,0.672,0.001,1KG_EAS_AF,ESPN
499,1:6492486:T>C,NM_031475.2:c.488+4007T>C,\N,\N,2/12,Unknown significance,\N,intron_variant,0.458,0.002,1KG_EUR_AF,ESPN
500,1:6492506:G>A,NM_031475.2:c.488+4027G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,2.864,\N,\N,ESPN
501,1:6492512:G>A,NM_031475.2:c.488+4033G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,9.163,0.0008,1KG_AFR_AF,ESPN
502,1:6492543:G>A,NM_031475.2:c.488+4064G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,1.032,0.0008,1KG_AFR_AF,ESPN
503,1:6492548:A>G,NM_031475.2:c.488+4069A>G,\N,\N,2/12,Unknown significance,\N,intron_variant,6.175,0.001,1KG_EAS_AF,ESPN
504,1:6492552:C>T,NM_031475.2:c.488+4073C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,8.63,0.001,1KG_EAS_AF,ESPN
505,1:6492576:G>A,NM_031475.2:c.488+4097G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,4.51,\N,\N,ESPN
506,1:6492608:G>A,NM_031475.2:c.488+4129G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,0.702,0.001,1KG_EAS_AF|1KG_EUR_AF|1KG_SAS_AF,ESPN
507,1:6492615:C>G,NM_031475.2:c.488+4136C>G,\N,\N,2/12,Unknown significance,\N,intron_variant,0.655,0.001,1KG_EUR_AF,ESPN
508,1:6492636:A>G,NM_031475.2:c.488+4157A>G,\N,\N,2/12,Unknown significance,\N,intron_variant,4.305,\N,\N,ESPN
509,1:6492679:G>A,NM_031475.2:c.488+4200G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,1.636,\N,\N,ESPN
510,1:6492691:C>T,NM_031475.2:c.488+4212C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,1.992,0.0008,1KG_AFR_AF,ESPN
511,1:6492692:T>C,NM_031475.2:c.488+4213T>C,\N,\N,2/12,Unknown significance,\N,intron_variant,0.483,\N,\N,ESPN
512,1:6492756:C>G,NM_031475.2:c.488+4277C>G,\N,\N,2/12,Unknown significance,\N,intron_variant,0.361,0.0031,1KG_SAS_AF,ESPN
513,1:6492773:C>T,NM_031475.2:c.488+4294C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,3.422,0.0014,1KG_AMR_AF,ESPN
514,1:6492798:G>A,NM_031475.2:c.488+4319G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,0.985,\N,\N,ESPN
515,1:6492802:G>A,NM_031475.2:c.488+4323G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,0.981,0.001,1KG_SAS_AF,ESPN
516,1:6492816:G>A,NM_031475.2:c.488+4337G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,0.53,\N,\N,ESPN
517,1:6492832:C>T,NM_031475.2:c.488+4353C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,2.896,\N,\N,ESPN
518,1:6492846:A>C,NM_031475.2:c.488+4367A>C,\N,\N,2/12,Unknown significance,\N,intron_variant,0.147,\N,\N,ESPN
519,1:6492876:C>T,NM_031475.2:c.488+4397C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,1.534,\N,\N,ESPN
520,1:6492907:G>A,NM_031475.2:c.488+4428G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,1.623,0.001,1KG_EAS_AF,ESPN
521,1:6492910:C>T,NM_031475.2:c.488+4431C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,1.832,\N,\N,ESPN
522,1:6492911:G>A,NM_031475.2:c.488+4432G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,0.899,\N,\N,ESPN
523,1:6492954:G>A,NM_031475.2:c.488+4475G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,0.78,0.0008,1KG_AFR_AF,ESPN
524,1:6492968:G>C,NM_031475.2:c.488+4489G>C,\N,\N,2/12,Unknown significance,\N,intron_variant,0.448,0.001,1KG_SAS_AF,ESPN
525,1:6493050:C>T,NM_031475.2:c.488+4571C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,1.277,0.0008,1KG_AFR_AF,ESPN
526,1:6493059:G>A,NM_031475.2:c.488+4580G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,0.073,\N,\N,ESPN
527,1:6493061:A>G,NM_031475.2:c.488+4582A>G,\N,\N,2/12,Unknown significance,\N,intron_variant,0.952,\N,\N,ESPN
528,1:6493074:C>T,NM_031475.2:c.488+4595C>T,\N,\N,2/12,Benign,\N,intron_variant,1.302,0.0068,1KG_AFR_AF,ESPN
529,1:6493075:G>A,NM_031475.2:c.488+4596G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,0.103,\N,\N,ESPN
530,1:6493091:AGAATTGCTG>A,NM_031475.2:c.488+4616_488+4624del,\N,\N,2/12,Unknown significance,\N,intron_variant,0.437,0.004,1KG_EAS_AF,ESPN
531,1:6493114:G>A,NM_031475.2:c.488+4635G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,0.069,0.001,1KG_EAS_AF,ESPN
532,1:6493124:G>A,NM_031475.2:c.488+4645G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,0.731,0.0008,1KG_AFR_AF,ESPN
533,1:6493126:G>C,NM_031475.2:c.488+4647G>C,\N,\N,2/12,Unknown significance,\N,intron_variant,0.121,0.001,1KG_EAS_AF,ESPN
534,1:6493139:A>G,NM_031475.2:c.488+4660A>G,\N,\N,2/12,Benign,\N,intron_variant,1.074,0.4077,1KG_AFR_AF,ESPN
535,1:6493165:G>T,NM_031475.2:c.488+4686G>T,\N,\N,2/12,Benign,\N,intron_variant,0.477,0.0189,1KG_AFR_AF,ESPN
536,1:6493181:C>T,NM_031475.2:c.488+4702C>T,\N,\N,2/12,Benign,\N,intron_variant,3.144,0.0219,1KG_AFR_AF,ESPN
537,1:6493191:GA>G,NM_031475.2:c.488+4718del,\N,\N,2/12,Unknown significance,\N,intron_variant,0.251,\N,\N,ESPN
538,1:6493192:A>AAAAAAG,NM_031475.2:c.488+4718_488+4723dup,\N,\N,2/12,Benign,\N,intron_variant,0.242,0.3843,1KG_AFR_AF,ESPN
539,1:6493193:A>AAAAAGAAAAAG,NM_031475.2:c.488+4723_488+4724insAGAAAAGAAAA,\N,\N,2/12,Benign,\N,intron_variant,0.759,0.0151,1KG_AFR_AF,ESPN
540,1:6493213:T>A,NM_031475.2:c.488+4734T>A,\N,\N,2/12,Unknown significance,\N,intron_variant,0.426,0.0023,1KG_AFR_AF,ESPN
541,1:6493223:G>T,NM_031475.2:c.488+4744G>T,\N,\N,2/12,Unknown significance,\N,intron_variant,0.037,0.003,1KG_EAS_AF,ESPN
542,1:6493249:A>G,NM_031475.2:c.488+4770A>G,\N,\N,2/12,Unknown significance,\N,intron_variant,3.368,0.0038,1KG_AFR_AF,ESPN
543,1:6493257:C>T,NM_031475.2:c.488+4778C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,5.045,0.001,1KG_EAS_AF,ESPN
544,1:6493261:T>C,NM_031475.2:c.488+4782T>C,\N,\N,2/12,Benign,\N,intron_variant,3.458,0.1458,1KG_EAS_AF,ESPN
545,1:6493275:C>T,NM_031475.2:c.488+4796C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,5.071,\N,\N,ESPN
546,1:6493329:C>T,NM_031475.2:c.488+4850C>T,\N,\N,2/12,Benign,\N,intron_variant,1.694,0.0703,1KG_AFR_AF,ESPN
547,1:6493360:C>T,NM_031475.2:c.488+4881C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,0.346,\N,\N,ESPN
548,1:6493379:C>T,NM_031475.2:c.488+4900C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,2.632,0.001,1KG_EAS_AF,ESPN
549,1:6493396:T>C,NM_031475.2:c.488+4917T>C,\N,\N,2/12,Unknown significance,\N,intron_variant,0.058,\N,\N,ESPN
550,1:6493440:G>T,NM_031475.2:c.488+4961G>T,\N,\N,2/12,Unknown significance,\N,intron_variant,0.368,0.0014,1KG_AMR_AF,ESPN
551,1:6493458:C>T,NM_031475.2:c.488+4979C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,1.69,0.0031,1KG_SAS_AF,ESPN
552,1:6493463:T>C,NM_031475.2:c.488+4984T>C,\N,\N,2/12,Benign,\N,intron_variant,0.734,0.8517,1KG_AFR_AF,ESPN
553,1:6493466:T>C,NM_031475.2:c.488+4987T>C,\N,\N,2/12,Unknown significance,\N,intron_variant,1.124,\N,\N,ESPN
554,1:6493560:G>C,NM_031475.2:c.488+5081G>C,\N,\N,2/12,Unknown significance,\N,intron_variant,1.984,0.001,1KG_EUR_AF,ESPN
555,1:6493574:T>G,NM_031475.2:c.488+5095T>G,\N,\N,2/12,Benign,\N,intron_variant,6.48,0.0983,1KG_AFR_AF,ESPN
556,1:6493589:C>T,NM_031475.2:c.488+5110C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,2.475,0.001,1KG_EUR_AF,ESPN
557,1:6493598:C>A,NM_031475.2:c.488+5119C>A,\N,\N,2/12,Benign,\N,intron_variant,0.279,0.005,1KG_EAS_AF,ESPN
558,1:6493602:G>A,NM_031475.2:c.488+5123G>A,\N,\N,2/12,Benign,\N,intron_variant,1.424,0.056,1KG_AFR_AF,ESPN
559,1:6493640:C>T,NM_031475.2:c.488+5161C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,2.646,\N,\N,ESPN
560,1:6493646:A>G,NM_031475.2:c.488+5167A>G,\N,\N,2/12,Benign,\N,intron_variant,2.309,0.0258,1KG_EUR_AF,ESPN
561,1:6493665:T>TAA,NM_031475.2:c.488+5186_488+5187insAA,\N,\N,2/12,Unknown significance,\N,intron_variant,\N,\N,\N,ESPN
562,1:6493665:TCAAAAAA>T,NM_031475.2:c.488+5187_488+5193del,\N,\N,2/12,Unknown significance,\N,intron_variant,\N,\N,\N,ESPN
563,1:6493666:C>CA,NM_031475.2:c.488+5201dup,\N,\N,2/12,Benign,\N,intron_variant,1.23,0.348,1KG_AFR_AF,ESPN
564,1:6493666:C>CAA,NM_031475.2:c.488+5200_488+5201dup,\N,\N,2/12,Unknown significance,\N,intron_variant,1.14,\N,\N,ESPN
565,1:6493676:A>AG,NM_031475.2:c.488+5197_488+5198insG,\N,\N,2/12,Benign,\N,intron_variant,0.029,0.0121,1KG_AFR_AF,ESPN
566,1:6493700:C>G,NM_031475.2:c.488+5221C>G,\N,\N,2/12,Benign,\N,intron_variant,2.149,0.0983,1KG_AFR_AF,ESPN
567,1:6493764:C>T,NM_031475.2:c.488+5285C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,0.907,\N,\N,ESPN
568,1:6493778:A>G,NM_031475.2:c.488+5299A>G,\N,\N,2/12,Benign,\N,intron_variant,0.092,0.0991,1KG_AFR_AF,ESPN
569,1:6493792:C>T,NM_031475.2:c.488+5313C>T,\N,\N,2/12,Benign,\N,intron_variant,0.733,0.1649,1KG_AFR_AF,ESPN
570,1:6493800:C>A,NM_031475.2:c.488+5321C>A,\N,\N,2/12,Unknown significance,\N,intron_variant,3.938,\N,\N,ESPN
571,1:6493818:C>A,NM_031475.2:c.488+5339C>A,\N,\N,2/12,Unknown significance,\N,intron_variant,7.999,\N,\N,ESPN
572,1:6493838:A>C,NM_031475.2:c.488+5359A>C,\N,\N,2/12,Benign,\N,intron_variant,0.78,0.4448,1KG_AFR_AF,ESPN
573,1:6493841:C>T,NM_031475.2:c.488+5362C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,3.704,\N,\N,ESPN
574,1:6493851:C>T,NM_031475.2:c.488+5372C>T,\N,\N,2/12,Benign,\N,intron_variant,3.547,0.0198,1KG_EAS_AF,ESPN
575,1:6493855:C>T,NM_031475.2:c.488+5376C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,4.985,\N,\N,ESPN
576,1:6493874:C>T,NM_031475.2:c.488+5395C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,4.761,\N,\N,ESPN
577,1:6493979:T>C,NM_031475.2:c.488+5500T>C,\N,\N,2/12,Unknown significance,\N,intron_variant,1.43,\N,\N,ESPN
578,1:6493997:C>T,NM_031475.2:c.488+5518C>T,\N,\N,2/12,Benign,\N,intron_variant,0.668,0.0091,1KG_AFR_AF,ESPN
579,1:6493998:G>A,NM_031475.2:c.488+5519G>A,\N,\N,2/12,Benign,\N,intron_variant,0.039,0.0431,1KG_AFR_AF,ESPN
580,1:6494005:C>T,NM_031475.2:c.488+5526C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,2.707,\N,\N,ESPN
581,1:6494080:C>G,NM_031475.2:c.488+5601C>G,\N,\N,2/12,Unknown significance,\N,intron_variant,1.305,0.0008,1KG_AFR_AF,ESPN
582,1:6494086:G>A,NM_031475.2:c.488+5607G>A,\N,\N,2/12,Benign,\N,intron_variant,0.017,0.3933,1KG_AFR_AF,ESPN
583,1:6494088:G>A,NM_031475.2:c.488+5609G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,1.241,\N,\N,ESPN
584,1:6494092:C>T,NM_031475.2:c.488+5613C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,1.19,\N,\N,ESPN
585,1:6494101:T>C,NM_031475.2:c.488+5622T>C,\N,\N,2/12,Unknown significance,\N,intron_variant,0.143,\N,\N,ESPN
586,1:6494123:C>T,NM_031475.2:c.488+5644C>T,\N,\N,2/12,Benign,\N,intron_variant,0.303,0.0072,1KG_SAS_AF,ESPN
587,1:6494257:C>T,NM_031475.2:c.488+5778C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,0.411,0.0008,1KG_AFR_AF,ESPN
588,1:6494266:C>T,NM_031475.2:c.488+5787C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,0.6,0.003,1KG_EAS_AF,ESPN
589,1:6494360:A>G,NM_031475.2:c.488+5881A>G,\N,\N,2/12,Unknown significance,\N,intron_variant,0.057,0.0014,1KG_AMR_AF,ESPN
590,1:6494367:C>T,NM_031475.2:c.488+5888C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,3.539,\N,\N,ESPN
591,1:6494383:G>A,NM_031475.2:c.488+5904G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,0.377,0.001,1KG_SAS_AF,ESPN
592,1:6494397:G>A,NM_031475.2:c.489-5917G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,4.458,0.001,1KG_SAS_AF,ESPN
593,1:6494399:C>T,NM_031475.2:c.489-5915C>T,\N,\N,2/12,Benign,\N,intron_variant,4.831,0.4962,1KG_AFR_AF,ESPN
594,1:6494423:GT>G,NM_031475.2:c.489-5887del,\N,\N,2/12,Unknown significance,\N,intron_variant,\N,\N,\N,ESPN
595,1:6494441:C>G,NM_031475.2:c.489-5873C>G,\N,\N,2/12,Unknown significance,\N,intron_variant,3.147,0.0008,1KG_AFR_AF,ESPN
596,1:6494486:C>A,NM_031475.2:c.489-5828C>A,\N,\N,2/12,Benign,\N,intron_variant,6.804,0.0149,1KG_EAS_AF,ESPN
597,1:6494496:A>G,NM_031475.2:c.489-5818A>G,\N,\N,2/12,Benign,\N,intron_variant,11.56,0.0166,1KG_AFR_AF,ESPN
598,1:6494562:G>GA,NM_031475.2:c.489-5752_489-5751insA,\N,\N,2/12,Unknown significance,\N,intron_variant,\N,\N,\N,ESPN
599,1:6494583:A>G,NM_031475.2:c.489-5731A>G,\N,\N,2/12,Unknown significance,\N,intron_variant,3.59,\N,\N,ESPN
600,1:6494599:AG>A,NM_031475.2:c.489-5714del,\N,\N,2/12,Benign,\N,intron_variant,0.077,0.0106,1KG_AFR_AF,ESPN
601,1:6494634:C>T,NM_031475.2:c.489-5680C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,5.41,0.002,1KG_EUR_AF,ESPN
602,1:6494650:A>C,NM_031475.2:c.489-5664A>C,\N,\N,2/12,Unknown significance,\N,intron_variant,0.994,\N,\N,ESPN
603,1:6494688:G>A,NM_031475.2:c.489-5626G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,12.14,0.0038,1KG_AFR_AF,ESPN
604,1:6494700:C>T,NM_031475.2:c.489-5614C>T,\N,\N,2/12,Benign,\N,intron_variant,12.47,0.005,1KG_EAS_AF,ESPN
605,1:6494743:G>T,NM_031475.2:c.489-5571G>T,\N,\N,2/12,Benign,\N,intron_variant,1.099,0.1438,1KG_EAS_AF,ESPN
606,1:6494752:G>A,NM_031475.2:c.489-5562G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,1.684,0.001,1KG_SAS_AF,ESPN
607,1:6494759:C>T,NM_031475.2:c.489-5555C>T,\N,\N,2/12,Benign,\N,intron_variant,1.921,0.0386,1KG_AFR_AF,ESPN
608,1:6494768:T>C,NM_031475.2:c.489-5546T>C,\N,\N,2/12,Unknown significance,\N,intron_variant,0.662,0.0031,1KG_SAS_AF,ESPN
609,1:6494776:T>C,NM_031475.2:c.489-5538T>C,\N,\N,2/12,Benign,\N,intron_variant,0.025,0.0983,1KG_AFR_AF,ESPN
610,1:6494784:T>C,NM_031475.2:c.489-5530T>C,\N,\N,2/12,Unknown significance,\N,intron_variant,0.206,\N,\N,ESPN
611,1:6494804:A>C,NM_031475.2:c.489-5510A>C,\N,\N,2/12,Unknown significance,\N,intron_variant,0.502,0.0014,1KG_AMR_AF,ESPN
612,1:6494855:C>CA,NM_031475.2:c.489-5458dup,\N,\N,2/12,Unknown significance,\N,intron_variant,\N,\N,\N,ESPN
613,1:6494855:CA>C,NM_031475.2:c.489-5458del,\N,\N,2/12,Benign,\N,intron_variant,6.215,0.093,1KG_SAS_AF,ESPN
614,1:6494862:G>A,NM_031475.2:c.489-5452G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,2.472,0.0008,1KG_AFR_AF,ESPN
615,1:6494869:G>A,NM_031475.2:c.489-5445G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,2.424,0.001,1KG_EAS_AF,ESPN
616,1:6494897:G>A,NM_031475.2:c.489-5417G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,9.623,0.001,1KG_EUR_AF,ESPN
617,1:6494910:A>G,NM_031475.2:c.489-5404A>G,\N,\N,2/12,Benign,\N,intron_variant,10.56,0.0091,1KG_AFR_AF,ESPN
618,1:6494914:G>A,NM_031475.2:c.489-5400G>A,\N,\N,2/12,Benign,\N,intron_variant,9.682,0.0333,1KG_AFR_AF,ESPN
619,1:6494970:C>T,NM_031475.2:c.489-5344C>T,\N,\N,2/12,Benign,\N,intron_variant,3.622,0.0058,1KG_AMR_AF,ESPN
620,1:6494975:T>G,NM_031475.2:c.489-5339T>G,\N,\N,2/12,Unknown significance,\N,intron_variant,0.023,\N,\N,ESPN
621,1:6494996:C>T,NM_031475.2:c.489-5318C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,0.796,0.0038,1KG_AFR_AF,ESPN
622,1:6495018:G>A,NM_031475.2:c.489-5296G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,1.931,0.0008,1KG_AFR_AF,ESPN
623,1:6495050:G>C,NM_031475.2:c.489-5264G>C,\N,\N,2/12,Unknown significance,\N,intron_variant,0.106,0.0008,1KG_AFR_AF,ESPN
624,1:6495063:G>T,NM_031475.2:c.489-5251G>T,\N,\N,2/12,Unknown significance,\N,intron_variant,2.167,\N,\N,ESPN
625,1:6495120:C>T,NM_031475.2:c.489-5194C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,0.591,0.001,1KG_EUR_AF,ESPN
626,1:6495121:G>A,NM_031475.2:c.489-5193G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,0.296,0.0043,1KG_AMR_AF,ESPN
627,1:6495129:G>C,NM_031475.2:c.489-5185G>C,\N,\N,2/12,Unknown significance,\N,intron_variant,0.257,\N,\N,ESPN
628,1:6495146:A>T,NM_031475.2:c.489-5168A>T,\N,\N,2/12,Unknown significance,\N,intron_variant,1.476,\N,\N,ESPN
629,1:6495199:T>C,NM_031475.2:c.489-5115T>C,\N,\N,2/12,Benign,\N,intron_variant,0.823,0.149,1KG_AFR_AF,ESPN
630,1:6495205:G>A,NM_031475.2:c.489-5109G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,0.564,0.0014,1KG_AMR_AF,ESPN
631,1:6495227:C>T,NM_031475.2:c.489-5087C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,2.116,0.0014,1KG_AMR_AF,ESPN
632,1:6495237:A>T,NM_031475.2:c.489-5077A>T,\N,\N,2/12,Unknown significance,\N,intron_variant,0.266,0.002,1KG_EUR_AF,ESPN
633,1:6495264:A>T,NM_031475.2:c.489-5050A>T,\N,\N,2/12,Benign,\N,intron_variant,2.105,0.0202,1KG_AMR_AF,ESPN
634,1:6495285:G>A,NM_031475.2:c.489-5029G>A,\N,\N,2/12,Benign,\N,intron_variant,0.648,0.0143,1KG_SAS_AF,ESPN
635,1:6495290:T>G,NM_031475.2:c.489-5024T>G,\N,\N,2/12,Unknown significance,\N,intron_variant,0.592,0.002,1KG_SAS_AF,ESPN
636,1:6495292:G>A,NM_031475.2:c.489-5022G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,2.755,\N,\N,ESPN
637,1:6495295:T>G,NM_031475.2:c.489-5019T>G,\N,\N,2/12,Unknown significance,\N,intron_variant,0.467,\N,\N,ESPN
638,1:6495298:T>A,NM_031475.2:c.489-5016T>A,\N,\N,2/12,Unknown significance,\N,intron_variant,4.277,0.003,1KG_EUR_AF,ESPN
639,1:6495303:G>A,NM_031475.2:c.489-5011G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,0.892,0.001,1KG_EUR_AF,ESPN
640,1:6495323:G>T,NM_031475.2:c.489-4991G>T,\N,\N,2/12,Unknown significance,\N,intron_variant,0.252,0.001,1KG_EAS_AF,ESPN
641,1:6495331:C>T,NM_031475.2:c.489-4983C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,0.3,\N,\N,ESPN
642,1:6495341:A>G,NM_031475.2:c.489-4973A>G,\N,\N,2/12,Unknown significance,\N,intron_variant,3.669,\N,\N,ESPN
643,1:6495342:T>C,NM_031475.2:c.489-4972T>C,\N,\N,2/12,Unknown significance,\N,intron_variant,2.683,\N,\N,ESPN
644,1:6495344:A>C,NM_031475.2:c.489-4970A>C,\N,\N,2/12,Benign,\N,intron_variant,1.273,0.0703,1KG_AFR_AF,ESPN
645,1:6495369:AT>A,NM_031475.2:c.489-4944del,\N,\N,2/12,Unknown significance,\N,intron_variant,\N,\N,\N,ESPN
646,1:6495381:C>CCCGGGTCTGGCCCCA,NM_031475.2:c.489-4932_489-4918dup,\N,\N,2/12,Unknown significance,\N,intron_variant,\N,\N,\N,ESPN
647,1:6495381:CCCGGGTCTGGCCCCA>C,NM_031475.2:c.489-4932_489-4918del,\N,\N,2/12,Benign,\N,intron_variant,1.883,0.091,1KG_SAS_AF,ESPN
648,1:6495383:C>T,NM_031475.2:c.489-4931C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,0.306,0.002,1KG_EAS_AF,ESPN
649,1:6495390:G>T,NM_031475.2:c.489-4924G>T,\N,\N,2/12,Unknown significance,\N,intron_variant,1.603,\N,\N,ESPN
650,1:6495396:A>T,NM_031475.2:c.489-4918A>T,\N,\N,2/12,Unknown significance,\N,intron_variant,0.862,0.0008,1KG_AFR_AF,ESPN
651,1:6495415:C>T,NM_031475.2:c.489-4899C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,0.7,0.001,1KG_EAS_AF,ESPN
652,1:6495416:G>A,NM_031475.2:c.489-4898G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,2.565,0.002,1KG_EAS_AF,ESPN
653,1:6495419:G>A,NM_031475.2:c.489-4895G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,1.123,0.001,1KG_EAS_AF,ESPN
654,1:6495448:C>T,NM_031475.2:c.489-4866C>T,\N,\N,2/12,Benign,\N,intron_variant,0.533,0.0119,1KG_EAS_AF,ESPN
655,1:6495451:C>T,NM_031475.2:c.489-4863C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,1.504,0.001,1KG_EAS_AF,ESPN
656,1:6495473:G>A,NM_031475.2:c.489-4841G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,1.824,\N,\N,ESPN
657,1:6495519:A>G,NM_031475.2:c.489-4795A>G,\N,\N,2/12,Unknown significance,\N,intron_variant,12.2,0.001,1KG_EUR_AF,ESPN
658,1:6495537:G>A,NM_031475.2:c.489-4777G>A,\N,\N,2/12,Benign,\N,intron_variant,14.49,0.0053,1KG_AFR_AF,ESPN
659,1:6495572:G>C,NM_031475.2:c.489-4742G>C,\N,\N,2/12,Benign,\N,intron_variant,10.78,0.171,1KG_AFR_AF,ESPN
660,1:6495587:C>T,NM_031475.2:c.489-4727C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,0.958,0.001,1KG_SAS_AF,ESPN
661,1:6495661:C>A,NM_031475.2:c.489-4653C>A,\N,\N,2/12,Benign,\N,intron_variant,3.857,0.5045,1KG_AFR_AF,ESPN
662,1:6495673:G>A,NM_031475.2:c.489-4641G>A,\N,\N,2/12,Benign,\N,intron_variant,2.93,0.0166,1KG_AFR_AF,ESPN
663,1:6495676:G>A,NM_031475.2:c.489-4638G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,2.135,0.001,1KG_EAS_AF,ESPN
664,1:6495687:C>T,NM_031475.2:c.489-4627C>T,\N,\N,2/12,Benign,\N,intron_variant,0.998,0.1468,1KG_EAS_AF,ESPN
665,1:6495732:A>C,NM_031475.2:c.489-4582A>C,\N,\N,2/12,Unknown significance,\N,intron_variant,0.705,0.001,1KG_EAS_AF,ESPN
666,1:6495743:C>T,NM_031475.2:c.489-4571C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,2.702,0.0008,1KG_AFR_AF,ESPN
667,1:6495746:C>G,NM_031475.2:c.489-4568C>G,\N,\N,2/12,Unknown significance,\N,intron_variant,0.57,0.001,1KG_EUR_AF,ESPN
668,1:6495762:C>G,NM_031475.2:c.489-4552C>G,\N,\N,2/12,Benign,\N,intron_variant,2.473,0.0153,1KG_SAS_AF,ESPN
669,1:6495792:C>T,NM_031475.2:c.489-4522C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,3.936,0.0014,1KG_AMR_AF,ESPN
670,1:6495803:A>G,NM_031475.2:c.489-4511A>G,\N,\N,2/12,Unknown significance,\N,intron_variant,0.906,0.0029,1KG_AMR_AF,ESPN
671,1:6495809:T>G,NM_031475.2:c.489-4505T>G,\N,\N,2/12,Unknown significance,\N,intron_variant,3.077,0.001,1KG_EUR_AF,ESPN
672,1:6495859:T>C,NM_031475.2:c.489-4455T>C,\N,\N,2/12,Unknown significance,\N,intron_variant,1.274,\N,\N,ESPN
673,1:6495878:G>A,NM_031475.2:c.489-4436G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,3.131,\N,\N,ESPN
674,1:6495965:C>A,NM_031475.2:c.489-4349C>A,\N,\N,2/12,Unknown significance,\N,intron_variant,2.994,\N,\N,ESPN
675,1:6496001:G>A,NM_031475.2:c.489-4313G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,0.375,0.001,1KG_EAS_AF,ESPN
676,1:6496001:G>C,NM_031475.2:c.489-4313G>C,\N,\N,2/12,Unknown significance,\N,intron_variant,0.047,\N,\N,ESPN
677,1:6496014:G>A,NM_031475.2:c.489-4300G>A,\N,\N,2/12,Benign,\N,intron_variant,2.495,0.0298,1KG_EUR_AF,ESPN
678,1:6496031:C>T,NM_031475.2:c.489-4283C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,2.984,\N,\N,ESPN
679,1:6496038:A>G,NM_031475.2:c.489-4276A>G,\N,\N,2/12,Unknown significance,\N,intron_variant,0.902,0.001,1KG_SAS_AF,ESPN
680,1:6496097:C>A,NM_031475.2:c.489-4217C>A,\N,\N,2/12,Unknown significance,\N,intron_variant,4.85,0.001,1KG_EAS_AF,ESPN
681,1:6496102:T>G,NM_031475.2:c.489-4212T>G,\N,\N,2/12,Unknown significance,\N,intron_variant,3.229,0.0008,1KG_AFR_AF,ESPN
682,1:6496106:G>C,NM_031475.2:c.489-4208G>C,\N,\N,2/12,Unknown significance,\N,intron_variant,0.015,0.001,1KG_EAS_AF,ESPN
683,1:6496127:G>T,NM_031475.2:c.489-4187G>T,\N,\N,2/12,Unknown significance,\N,intron_variant,1.242,\N,\N,ESPN
684,1:6496136:G>A,NM_031475.2:c.489-4178G>A,\N,\N,2/12,Benign,\N,intron_variant,1.851,0.0159,1KG_EUR_AF,ESPN
685,1:6496164:C>T,NM_031475.2:c.489-4150C>T,\N,\N,2/12,Benign,\N,intron_variant,0.665,0.0153,1KG_SAS_AF,ESPN
686,1:6496176:A>G,NM_031475.2:c.489-4138A>G,\N,\N,2/12,Unknown significance,\N,intron_variant,4.684,\N,\N,ESPN
687,1:6496184:G>A,NM_031475.2:c.489-4130G>A,\N,\N,2/12,Benign,\N,intron_variant,1.762,0.0151,1KG_AFR_AF,ESPN
688,1:6496187:C>T,NM_031475.2:c.489-4127C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,2.436,\N,\N,ESPN
689,1:6496188:G>A,NM_031475.2:c.489-4126G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,0.346,\N,\N,ESPN
690,1:6496219:A>G,NM_031475.2:c.489-4095A>G,\N,\N,2/12,Unknown significance,\N,intron_variant,0.244,\N,\N,ESPN
691,1:6496232:AG>A,NM_031475.2:c.489-4078del,\N,\N,2/12,Benign,\N,intron_variant,0.558,0.1468,1KG_EAS_AF,ESPN
692,1:6496262:G>A,NM_031475.2:c.489-4052G>A,\N,\N,2/12,Benign,\N,intron_variant,2.394,0.0318,1KG_AFR_AF,ESPN
693,1:6496294:T>C,NM_031475.2:c.489-4020T>C,\N,\N,2/12,Unknown significance,\N,intron_variant,0.547,0.001,1KG_EUR_AF,ESPN
694,1:6496365:G>A,NM_031475.2:c.489-3949G>A,\N,\N,2/12,Benign,\N,intron_variant,3.86,0.1619,1KG_AFR_AF,ESPN
695,1:6496388:T>C,NM_031475.2:c.489-3926T>C,\N,\N,2/12,Benign,\N,intron_variant,1.486,0.149,1KG_AFR_AF,ESPN
696,1:6496416:G>A,NM_031475.2:c.489-3898G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,2.277,0.003,1KG_EAS_AF,ESPN
697,1:6496462:G>C,NM_031475.2:c.489-3852G>C,\N,\N,2/12,Unknown significance,\N,intron_variant,0.313,0.002,1KG_SAS_AF,ESPN
698,1:6496463:T>C,NM_031475.2:c.489-3851T>C,\N,\N,2/12,Benign,\N,intron_variant,1.496,0.0151,1KG_AFR_AF,ESPN
699,1:6496535:A>T,NM_031475.2:c.489-3779A>T,\N,\N,2/12,Unknown significance,\N,intron_variant,9.455,0.002,1KG_EAS_AF,ESPN
700,1:6496537:T>TTTA,NM_031475.2:c.489-3775_489-3774insATT,\N,\N,2/12,Benign,\N,intron_variant,7.846,0.3495,1KG_AFR_AF,ESPN
701,1:6496537:TTTTTC>T,NM_031475.2:c.489-3774_489-3770del,\N,\N,2/12,Unknown significance,\N,intron_variant,8.818,\N,\N,ESPN
702,1:6496539:T>TA,NM_031475.2:c.489-3775_489-3774insA,\N,\N,2/12,Unknown significance,\N,intron_variant,\N,\N,\N,ESPN
703,1:6496541:TCTTA>T,NM_031475.2:c.489-3772_489-3769del,\N,\N,2/12,Unknown significance,\N,intron_variant,\N,\N,\N,ESPN
704,1:6496542:C>CTTAT,NM_031475.2:c.489-3737_489-3734dup,\N,\N,2/12,Unknown significance,\N,intron_variant,3.435,\N,\N,ESPN
705,1:6496542:CTTAT>C,NM_031475.2:c.489-3737_489-3734del,\N,\N,2/12,Unknown significance,\N,intron_variant,5.948,\N,\N,ESPN
706,1:6496550:T>TTTTA,NM_031475.2:c.489-3762_489-3761insTATT,\N,\N,2/12,Unknown significance,\N,intron_variant,\N,\N,\N,ESPN
707,1:6496622:T>C,NM_031475.2:c.489-3692T>C,\N,\N,2/12,Unknown significance,\N,intron_variant,2.401,\N,\N,ESPN
708,1:6496652:C>T,NM_031475.2:c.489-3662C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,2.622,\N,\N,ESPN
709,1:6496694:G>A,NM_031475.2:c.489-3620G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,1.145,0.0008,1KG_AFR_AF,ESPN
710,1:6496727:G>T,NM_031475.2:c.489-3587G>T,\N,\N,2/12,Unknown significance,\N,intron_variant,1.316,\N,\N,ESPN
711,1:6496758:G>A,NM_031475.2:c.489-3556G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,1.194,\N,\N,ESPN
712,1:6496768:T>C,NM_031475.2:c.489-3546T>C,\N,\N,2/12,Unknown significance,\N,intron_variant,3.325,0.002,1KG_EUR_AF,ESPN
713,1:6496787:G>A,NM_031475.2:c.489-3527G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,8.401,0.0008,1KG_AFR_AF,ESPN
714,1:6496806:GTCC>G,NM_031475.2:c.489-3503_489-3501del,\N,\N,2/12,Unknown significance,\N,intron_variant,\N,\N,\N,ESPN
715,1:6496811:C>A,NM_031475.2:c.489-3503C>A,\N,\N,2/12,Benign,\N,intron_variant,5.877,0.0286,1KG_SAS_AF,ESPN
716,1:6496830:G>A,NM_031475.2:c.489-3484G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,6.998,\N,\N,ESPN
717,1:6496830:G>T,NM_031475.2:c.489-3484G>T,\N,\N,2/12,Unknown significance,\N,intron_variant,3.872,\N,\N,ESPN
718,1:6496858:A>G,NM_031475.2:c.489-3456A>G,\N,\N,2/12,Unknown significance,\N,intron_variant,2.193,\N,\N,ESPN
719,1:6496889:C>A,NM_031475.2:c.489-3425C>A,\N,\N,2/12,Benign,\N,intron_variant,0.307,0.5091,1KG_AFR_AF,ESPN
720,1:6496946:C>T,NM_031475.2:c.489-3368C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,5.918,0.0008,1KG_AFR_AF,ESPN
721,1:6496961:T>A,NM_031475.2:c.489-3353T>A,\N,\N,2/12,Unknown significance,\N,intron_variant,6.935,0.0008,1KG_AFR_AF,ESPN
722,1:6496962:G>A,NM_031475.2:c.489-3352G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,3.409,0.001,1KG_EAS_AF,ESPN
723,1:6496970:G>A,NM_031475.2:c.489-3344G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,1.124,\N,\N,ESPN
724,1:6496972:G>C,NM_031475.2:c.489-3342G>C,\N,\N,2/12,Benign,\N,intron_variant,0.111,0.0446,1KG_AFR_AF,ESPN
725,1:6496985:G>A,NM_031475.2:c.489-3329G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,0.558,\N,\N,ESPN
726,1:6497004:G>T,NM_031475.2:c.489-3310G>T,\N,\N,2/12,Unknown significance,\N,intron_variant,4.656,\N,\N,ESPN
727,1:6497011:G>A,NM_031475.2:c.489-3303G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,7.163,\N,\N,ESPN
728,1:6497052:C>A,NM_031475.2:c.489-3262C>A,\N,\N,2/12,Benign,\N,intron_variant,7.167,0.0598,1KG_AFR_AF,ESPN
729,1:6497056:C>G,NM_031475.2:c.489-3258C>G,\N,\N,2/12,Unknown significance,\N,intron_variant,5.121,0.001,1KG_EAS_AF,ESPN
730,1:6497057:T>A,NM_031475.2:c.489-3257T>A,\N,\N,2/12,Benign,\N,intron_variant,4.945,0.0068,1KG_AFR_AF,ESPN
731,1:6497057:T>C,NM_031475.2:c.489-3257T>C,\N,\N,2/12,Benign,\N,intron_variant,1.82,1,1KG_SAS_AF,ESPN
732,1:6497064:A>G,NM_031475.2:c.489-3250A>G,\N,\N,2/12,Benign,\N,intron_variant,4.309,0.0212,1KG_AFR_AF,ESPN
733,1:6497075:T>C,NM_031475.2:c.489-3239T>C,\N,\N,2/12,Benign,\N,intron_variant,1.181,0.1468,1KG_EAS_AF,ESPN
734,1:6497128:G>A,NM_031475.2:c.489-3186G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,0.215,0.001,1KG_SAS_AF,ESPN
735,1:6497156:G>A,NM_031475.2:c.489-3158G>A,\N,\N,2/12,Benign,\N,intron_variant,1.3,0.1989,1KG_AFR_AF,ESPN
736,1:6497166:A>G,NM_031475.2:c.489-3148A>G,\N,\N,2/12,Unknown significance,\N,intron_variant,2.537,0.001,1KG_SAS_AF,ESPN
737,1:6497167:T>C,NM_031475.2:c.489-3147T>C,\N,\N,2/12,Unknown significance,\N,intron_variant,0.38,0.001,1KG_EAS_AF,ESPN
738,1:6497173:C>T,NM_031475.2:c.489-3141C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,5.868,\N,\N,ESPN
739,1:6497193:A>C,NM_031475.2:c.489-3121A>C,\N,\N,2/12,Unknown significance,\N,intron_variant,2.192,\N,\N,ESPN
740,1:6497197:C>T,NM_031475.2:c.489-3117C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,6.804,0.003,1KG_AFR_AF,ESPN
741,1:6497198:G>A,NM_031475.2:c.489-3116G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,8.578,\N,\N,ESPN
742,1:6497202:C>T,NM_031475.2:c.489-3112C>T,\N,\N,2/12,Benign,\N,intron_variant,10.92,0.1959,1KG_AFR_AF,ESPN
743,1:6497231:C>T,NM_031475.2:c.489-3083C>T,\N,\N,2/12,Benign,\N,intron_variant,11.08,0.091,1KG_SAS_AF,ESPN
744,1:6497239:C>T,NM_031475.2:c.489-3075C>T,\N,\N,2/12,Benign,\N,intron_variant,13.77,0.0408,1KG_AFR_AF,ESPN
745,1:6497288:G>A,NM_031475.2:c.489-3026G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,6.523,\N,\N,ESPN
746,1:6497303:C>A,NM_031475.2:c.489-3011C>A,\N,\N,2/12,Unknown significance,\N,intron_variant,10.28,0.003,1KG_AFR_AF,ESPN
747,1:6497369:G>A,NM_031475.2:c.489-2945G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,3.383,\N,\N,ESPN
748,1:6497377:C>T,NM_031475.2:c.489-2937C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,1.618,0.001,1KG_SAS_AF,ESPN
749,1:6497387:GC>G,NM_031475.2:c.489-2920del,\N,\N,2/12,Benign,\N,intron_variant,1.649,0.5091,1KG_AFR_AF,ESPN
750,1:6497388:C>G,NM_031475.2:c.489-2926C>G,\N,\N,2/12,Unknown significance,\N,intron_variant,0.883,\N,\N,ESPN
751,1:6497390:C>A,NM_031475.2:c.489-2924C>A,\N,\N,2/12,Benign,\N,intron_variant,5.806,0.0058,1KG_AMR_AF,ESPN
752,1:6497390:C>T,NM_031475.2:c.489-2924C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,5.503,\N,\N,ESPN
753,1:6497395:A>C,NM_031475.2:c.489-2919A>C,\N,\N,2/12,Unknown significance,\N,intron_variant,0.286,\N,\N,ESPN
754,1:6497413:C>T,NM_031475.2:c.489-2901C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,4.991,0.001,1KG_SAS_AF,ESPN
755,1:6497430:A>G,NM_031475.2:c.489-2884A>G,\N,\N,2/12,Benign,\N,intron_variant,1.004,0.0212,1KG_AFR_AF,ESPN
756,1:6497434:C>T,NM_031475.2:c.489-2880C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,5.283,0.001,1KG_EAS_AF,ESPN
757,1:6497439:TGGGCCC>T,NM_031475.2:c.489-2874_489-2869del,\N,\N,2/12,Unknown significance,\N,intron_variant,\N,\N,\N,ESPN
758,1:6497446:C>G,NM_031475.2:c.489-2868C>G,\N,\N,2/12,Unknown significance,\N,intron_variant,4.576,\N,\N,ESPN
759,1:6497449:C>G,NM_031475.2:c.489-2865C>G,\N,\N,2/12,Unknown significance,\N,intron_variant,3.723,0.001,1KG_EAS_AF,ESPN
760,1:6497462:C>T,NM_031475.2:c.489-2852C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,8.623,\N,\N,ESPN
761,1:6497463:C>G,NM_031475.2:c.489-2851C>G,\N,\N,2/12,Unknown significance,\N,intron_variant,7.117,0.0023,1KG_AFR_AF,ESPN
762,1:6497472:C>T,NM_031475.2:c.489-2842C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,7.665,0.0029,1KG_AMR_AF,ESPN
763,1:6497473:G>A,NM_031475.2:c.489-2841G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,5.13,\N,\N,ESPN
764,1:6497485:G>A,NM_031475.2:c.489-2829G>A,\N,\N,2/12,Benign,\N,intron_variant,11.86,0.0143,1KG_SAS_AF,ESPN
765,1:6497496:G>A,NM_031475.2:c.489-2818G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,8.697,0.001,1KG_EAS_AF,ESPN
766,1:6497557:G>A,NM_031475.2:c.489-2757G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,4.185,\N,\N,ESPN
767,1:6497566:T>C,NM_031475.2:c.489-2748T>C,\N,\N,2/12,Benign,\N,intron_variant,7.536,0.0308,1KG_EAS_AF,ESPN
768,1:6497571:G>A,NM_031475.2:c.489-2743G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,8.938,\N,\N,ESPN
769,1:6497583:G>A,NM_031475.2:c.489-2731G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,8.982,0.0008,1KG_AFR_AF,ESPN
770,1:6497611:G>A,NM_031475.2:c.489-2703G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,2.11,\N,\N,ESPN
771,1:6497619:C>T,NM_031475.2:c.489-2695C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,1.648,0.001,1KG_EUR_AF,ESPN
772,1:6497620:G>A,NM_031475.2:c.489-2694G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,1.814,0.001,1KG_EAS_AF,ESPN
773,1:6497641:T>C,NM_031475.2:c.489-2673T>C,\N,\N,2/12,Unknown significance,\N,intron_variant,1.565,\N,\N,ESPN
774,1:6497658:C>T,NM_031475.2:c.489-2656C>T,\N,\N,2/12,Benign,\N,intron_variant,3.689,0.205,1KG_AFR_AF,ESPN
775,1:6497683:C>T,NM_031475.2:c.489-2631C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,1.492,0.0029,1KG_AMR_AF,ESPN
776,1:6497741:C>T,NM_031475.2:c.489-2573C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,3.831,\N,\N,ESPN
777,1:6497754:A>C,NM_031475.2:c.489-2560A>C,\N,\N,2/12,Unknown significance,\N,intron_variant,2.241,\N,\N,ESPN
778,1:6497771:G>A,NM_031475.2:c.489-2543G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,4.169,\N,\N,ESPN
779,1:6497829:C>T,NM_031475.2:c.489-2485C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,6.192,0.001,1KG_EAS_AF,ESPN
780,1:6497858:A>T,NM_031475.2:c.489-2456A>T,\N,\N,2/12,Benign,\N,intron_variant,1.81,0.0144,1KG_AFR_AF,ESPN
781,1:6497871:G>A,NM_031475.2:c.489-2443G>A,\N,\N,2/12,Benign,\N,intron_variant,3.246,0.0099,1KG_EAS_AF,ESPN
782,1:6497919:G>A,NM_031475.2:c.489-2395G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,3.075,\N,\N,ESPN
783,1:6497950:C>T,NM_031475.2:c.489-2364C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,6.16,0.003,1KG_AFR_AF,ESPN
784,1:6497951:G>A,NM_031475.2:c.489-2363G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,1.995,\N,\N,ESPN
785,1:6497956:A>G,NM_031475.2:c.489-2358A>G,\N,\N,2/12,Benign,\N,intron_variant,0.12,0.0053,1KG_AFR_AF,ESPN
786,1:6497972:G>T,NM_031475.2:c.489-2342G>T,\N,\N,2/12,Benign,\N,intron_variant,0.74,0.0408,1KG_AFR_AF,ESPN
787,1:6497979:C>T,NM_031475.2:c.489-2335C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,4.487,0.0008,1KG_AFR_AF,ESPN
788,1:6497995:G>A,NM_031475.2:c.489-2319G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,3.814,\N,\N,ESPN
789,1:6498011:G>C,NM_031475.2:c.489-2303G>C,\N,\N,2/12,Unknown significance,\N,intron_variant,1.675,\N,\N,ESPN
790,1:6498018:G>GC,NM_031475.2:c.489-2294dup,\N,\N,2/12,Unknown significance,\N,intron_variant,\N,\N,\N,ESPN
791,1:6498022:G>C,NM_031475.2:c.489-2292G>C,\N,\N,2/12,Unknown significance,\N,intron_variant,1.298,0.001,1KG_EUR_AF,ESPN
792,1:6498031:T>G,NM_031475.2:c.489-2283T>G,\N,\N,2/12,Unknown significance,\N,intron_variant,2.307,\N,\N,ESPN
793,1:6498049:C>T,NM_031475.2:c.489-2265C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,5.19,\N,\N,ESPN
794,1:6498050:G>A,NM_031475.2:c.489-2264G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,3.933,\N,\N,ESPN
795,1:6498073:C>T,NM_031475.2:c.489-2241C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,0.885,\N,\N,ESPN
796,1:6498074:G>A,NM_031475.2:c.489-2240G>A,\N,\N,2/12,Benign,\N,intron_variant,2.212,0.0144,1KG_AFR_AF,ESPN
797,1:6498162:G>T,NM_031475.2:c.489-2152G>T,\N,\N,2/12,Benign,\N,intron_variant,1.946,0.4932,1KG_AFR_AF,ESPN
798,1:6498165:T>C,NM_031475.2:c.489-2149T>C,\N,\N,2/12,Benign,\N,intron_variant,0.54,0.025,1KG_AFR_AF,ESPN
799,1:6498171:T>G,NM_031475.2:c.489-2143T>G,\N,\N,2/12,Benign,\N,intron_variant,2.183,0.0068,1KG_AFR_AF,ESPN
800,1:6498178:C>T,NM_031475.2:c.489-2136C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,5.034,\N,\N,ESPN
801,1:6498179:A>C,NM_031475.2:c.489-2135A>C,\N,\N,2/12,Unknown significance,\N,intron_variant,0.591,\N,\N,ESPN
802,1:6498186:G>A,NM_031475.2:c.489-2128G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,5.859,0.0008,1KG_AFR_AF,ESPN
803,1:6498226:C>T,NM_031475.2:c.489-2088C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,6.723,0.001,1KG_EAS_AF,ESPN
804,1:6498228:T>G,NM_031475.2:c.489-2086T>G,\N,\N,2/12,Unknown significance,\N,intron_variant,5.549,0.002,1KG_SAS_AF,ESPN
805,1:6498248:A>G,NM_031475.2:c.489-2066A>G,\N,\N,2/12,Benign,\N,intron_variant,2.85,0.1452,1KG_AFR_AF,ESPN
806,1:6498273:G>A,NM_031475.2:c.489-2041G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,3.082,\N,\N,ESPN
807,1:6498273:G>T,NM_031475.2:c.489-2041G>T,\N,\N,2/12,Unknown significance,\N,intron_variant,1.748,\N,\N,ESPN
808,1:6498274:G>T,NM_031475.2:c.489-2040G>T,\N,\N,2/12,Benign,\N,intron_variant,3.095,0.0069,1KG_EAS_AF,ESPN
809,1:6498286:C>A,NM_031475.2:c.489-2028C>A,\N,\N,2/12,Unknown significance,\N,intron_variant,10.92,0.003,1KG_AFR_AF,ESPN
810,1:6498296:T>TC,NM_031475.2:c.489-2017dup,\N,\N,2/12,Unknown significance,\N,intron_variant,\N,\N,\N,ESPN
811,1:6498327:C>T,NM_031475.2:c.489-1987C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,7.695,0.0038,1KG_AFR_AF,ESPN
812,1:6498378:A>G,NM_031475.2:c.489-1936A>G,\N,\N,2/12,Unknown significance,\N,intron_variant,6.741,\N,\N,ESPN
813,1:6498380:G>T,NM_031475.2:c.489-1934G>T,\N,\N,2/12,Unknown significance,\N,intron_variant,5.699,\N,\N,ESPN
814,1:6498387:C>T,NM_031475.2:c.489-1927C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,9.827,\N,\N,ESPN
815,1:6498397:C>T,NM_031475.2:c.489-1917C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,8.764,\N,\N,ESPN
816,1:6498400:G>T,NM_031475.2:c.489-1914G>T,\N,\N,2/12,Unknown significance,\N,intron_variant,6.026,\N,\N,ESPN
817,1:6498426:T>C,NM_031475.2:c.489-1888T>C,\N,\N,2/12,Unknown significance,\N,intron_variant,4.648,\N,\N,ESPN
818,1:6498440:G>A,NM_031475.2:c.489-1874G>A,\N,\N,2/12,Benign,\N,intron_variant,3.7,0.0121,1KG_AFR_AF,ESPN
819,1:6498444:A>G,NM_031475.2:c.489-1870A>G,\N,\N,2/12,Unknown significance,\N,intron_variant,1.766,0.0008,1KG_AFR_AF,ESPN
820,1:6498458:A>C,NM_031475.2:c.489-1856A>C,\N,\N,2/12,Unknown significance,\N,intron_variant,0.187,0.001,1KG_EUR_AF,ESPN
821,1:6498465:G>T,NM_031475.2:c.489-1849G>T,\N,\N,2/12,Unknown significance,\N,intron_variant,1.1,0.0008,1KG_AFR_AF,ESPN
822,1:6498533:GC>G,NM_031475.2:c.489-1775del,\N,\N,2/12,Unknown significance,\N,intron_variant,\N,\N,\N,ESPN
823,1:6498578:C>T,NM_031475.2:c.489-1736C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,10.39,\N,\N,ESPN
824,1:6498579:G>A,NM_031475.2:c.489-1735G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,7.892,\N,\N,ESPN
825,1:6498644:T>C,NM_031475.2:c.489-1670T>C,\N,\N,2/12,Unknown significance,\N,intron_variant,1.155,0.001,1KG_EAS_AF,ESPN
826,1:6498666:A>G,NM_031475.2:c.489-1648A>G,\N,\N,2/12,Unknown significance,\N,intron_variant,1.101,\N,\N,ESPN
827,1:6498678:G>A,NM_031475.2:c.489-1636G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,6.544,\N,\N,ESPN
828,1:6498683:C>A,NM_031475.2:c.489-1631C>A,\N,\N,2/12,Unknown significance,\N,intron_variant,8.962,\N,\N,ESPN
829,1:6498691:A>G,NM_031475.2:c.489-1623A>G,\N,\N,2/12,Unknown significance,\N,intron_variant,9.538,\N,\N,ESPN
830,1:6498698:A>C,NM_031475.2:c.489-1616A>C,\N,\N,2/12,Unknown significance,\N,intron_variant,8.352,0.001,1KG_EUR_AF,ESPN
831,1:6498753:G>A,NM_031475.2:c.489-1561G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,0.465,\N,\N,ESPN
832,1:6498774:C>T,NM_031475.2:c.489-1540C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,6.954,\N,\N,ESPN
833,1:6498779:G>A,NM_031475.2:c.489-1535G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,6.885,\N,\N,ESPN
834,1:6498787:C>T,NM_031475.2:c.489-1527C>T,\N,\N,2/12,Benign,\N,intron_variant,9.453,0.0333,1KG_AFR_AF,ESPN
835,1:6498820:G>A,NM_031475.2:c.489-1494G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,3.087,0.0008,1KG_AFR_AF,ESPN
836,1:6498831:G>T,NM_031475.2:c.489-1483G>T,\N,\N,2/12,Benign,\N,intron_variant,1.439,0.0256,1KG_SAS_AF,ESPN
837,1:6498854:G>A,NM_031475.2:c.489-1460G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,3.057,\N,\N,ESPN
838,1:6498894:G>A,NM_031475.2:c.489-1420G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,1.684,0.001,1KG_SAS_AF,ESPN
839,1:6498899:C>T,NM_031475.2:c.489-1415C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,1.87,\N,\N,ESPN
840,1:6498908:A>G,NM_031475.2:c.489-1406A>G,\N,\N,2/12,Benign,\N,intron_variant,2.668,0.0998,1KG_AFR_AF,ESPN
841,1:6498908:A>T,NM_031475.2:c.489-1406A>T,\N,\N,2/12,Unknown significance,\N,intron_variant,1.694,\N,\N,ESPN
842,1:6498909:C>T,NM_031475.2:c.489-1405C>T,\N,\N,2/12,Benign,\N,intron_variant,0.742,0.0051,1KG_SAS_AF,ESPN
843,1:6498943:A>G,NM_031475.2:c.489-1371A>G,\N,\N,2/12,Unknown significance,\N,intron_variant,0.249,\N,\N,ESPN
844,1:6498968:C>T,NM_031475.2:c.489-1346C>T,\N,\N,2/12,Benign,\N,intron_variant,2.76,0.5227,1KG_AFR_AF,ESPN
845,1:6498969:C>T,NM_031475.2:c.489-1345C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,1.878,0.001,1KG_EUR_AF,ESPN
846,1:6498970:G>A,NM_031475.2:c.489-1344G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,0.022,0.0015,1KG_AFR_AF,ESPN
847,1:6499007:A>G,NM_031475.2:c.489-1307A>G,\N,\N,2/12,Unknown significance,\N,intron_variant,7.985,\N,\N,ESPN
848,1:6499032:C>T,NM_031475.2:c.489-1282C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,2.115,\N,\N,ESPN
849,1:6499128:C>T,NM_031475.2:c.489-1186C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,0.015,\N,\N,ESPN
850,1:6499158:C>T,NM_031475.2:c.489-1156C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,2.543,0.001,1KG_SAS_AF,ESPN
851,1:6499159:A>C,NM_031475.2:c.489-1155A>C,\N,\N,2/12,Benign,\N,intron_variant,1.16,0.0644,1KG_SAS_AF,ESPN
852,1:6499166:C>T,NM_031475.2:c.489-1148C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,0.019,0.001,1KG_EAS_AF,ESPN
853,1:6499167:G>A,NM_031475.2:c.489-1147G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,0.187,\N,\N,ESPN
854,1:6499196:C>A,NM_031475.2:c.489-1118C>A,\N,\N,2/12,Unknown significance,\N,intron_variant,8.001,\N,\N,ESPN
855,1:6499211:C>T,NM_031475.2:c.489-1103C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,3.706,0.0014,1KG_AMR_AF,ESPN
856,1:6499212:G>A,NM_031475.2:c.489-1102G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,0.18,0.001,1KG_SAS_AF,ESPN
857,1:6499388:C>T,NM_031475.2:c.489-926C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,11.43,\N,\N,ESPN
858,1:6499409:A>C,NM_031475.2:c.489-905A>C,\N,\N,2/12,Benign,\N,intron_variant,0.728,0.1952,1KG_AFR_AF,ESPN
859,1:6499409:A>T,NM_031475.2:c.489-905A>T,\N,\N,2/12,Unknown significance,\N,intron_variant,0.856,\N,\N,ESPN
860,1:6499414:T>G,NM_031475.2:c.489-900T>G,\N,\N,2/12,Unknown significance,\N,intron_variant,7.236,\N,\N,ESPN
861,1:6499418:G>C,NM_031475.2:c.489-896G>C,\N,\N,2/12,Unknown significance,\N,intron_variant,4.114,0.0008,1KG_AFR_AF,ESPN
862,1:6499515:T>C,NM_031475.2:c.489-799T>C,\N,\N,2/12,Unknown significance,\N,intron_variant,5.69,0.002,1KG_EAS_AF,ESPN
863,1:6499568:G>A,NM_031475.2:c.489-746G>A,\N,\N,2/12,Benign,\N,intron_variant,0.367,0.053,1KG_AFR_AF,ESPN
864,1:6499585:A>G,NM_031475.2:c.489-729A>G,\N,\N,2/12,Unknown significance,\N,intron_variant,0.298,\N,\N,ESPN
865,1:6499587:A>G,NM_031475.2:c.489-727A>G,\N,\N,2/12,Unknown significance,\N,intron_variant,0.203,0.0008,1KG_AFR_AF,ESPN
866,1:6499595:G>A,NM_031475.2:c.489-719G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,2.196,\N,\N,ESPN
867,1:6499624:C>A,NM_031475.2:c.489-690C>A,\N,\N,2/12,Unknown significance,\N,intron_variant,5.028,\N,\N,ESPN
868,1:6499666:G>A,NM_031475.2:c.489-648G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,0.349,0.001,1KG_SAS_AF,ESPN
869,1:6499674:A>G,NM_031475.2:c.489-640A>G,\N,\N,2/12,Unknown significance,\N,intron_variant,0.038,0.001,1KG_EAS_AF,ESPN
870,1:6499699:A>T,NM_031475.2:c.489-615A>T,\N,\N,2/12,Unknown significance,\N,intron_variant,6.626,\N,\N,ESPN
871,1:6499709:G>A,NM_031475.2:c.489-605G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,1.663,0.003,1KG_AFR_AF,ESPN
872,1:6499729:G>A,NM_031475.2:c.489-585G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,2.871,\N,\N,ESPN
873,1:6499760:T>C,NM_031475.2:c.489-554T>C,\N,\N,2/12,Unknown significance,\N,intron_variant,3.597,\N,\N,ESPN
874,1:6499773:C>G,NM_031475.2:c.489-541C>G,\N,\N,2/12,Unknown significance,\N,intron_variant,0.28,\N,\N,ESPN
875,1:6499773:C>T,NM_031475.2:c.489-541C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,0.62,\N,\N,ESPN
876,1:6499775:G>C,NM_031475.2:c.489-539G>C,\N,\N,2/12,Unknown significance,\N,intron_variant,0.464,0.0015,1KG_AFR_AF,ESPN
877,1:6499803:G>A,NM_031475.2:c.489-511G>A,\N,\N,2/12,Benign,\N,intron_variant,0.844,0.0143,1KG_SAS_AF,ESPN
878,1:6499830:G>A,NM_031475.2:c.489-484G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,6.053,\N,\N,ESPN
879,1:6499844:C>T,NM_031475.2:c.489-470C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,0.632,\N,\N,ESPN
880,1:6499860:G>A,NM_031475.2:c.489-454G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,3.794,\N,\N,ESPN
881,1:6499923:G>T,NM_031475.2:c.489-391G>T,\N,\N,2/12,Unknown significance,\N,intron_variant,0.887,\N,\N,ESPN
882,1:6500000:C>T,NM_031475.2:c.489-314C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,2.789,0.0038,1KG_AFR_AF,ESPN
883,1:6500052:G>A,NM_031475.2:c.489-262G>A,\N,\N,2/12,Benign,\N,intron_variant,1.038,0.0144,1KG_AFR_AF,ESPN
884,1:6500059:A>C,NM_031475.2:c.489-255A>C,\N,\N,2/12,Unknown significance,\N,intron_variant,1.212,\N,\N,ESPN
885,1:6500059:ACTT>A,NM_031475.2:c.489-249_489-247del,\N,\N,2/12,Benign,\N,intron_variant,3.152,0.0794,1KG_AFR_AF,ESPN
886,1:6500068:C>CA,NM_031475.2:c.489-236dup,\N,\N,2/12,Benign,\N,intron_variant,5.822,0.2746,1KG_AFR_AF,ESPN
887,1:6500091:G>A,NM_031475.2:c.489-223G>A,\N,\N,2/12,Benign,\N,intron_variant,3.705,0.0371,1KG_AFR_AF,ESPN
888,1:6500099:G>A,NM_031475.2:c.489-215G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,2.637,0.001,1KG_SAS_AF,ESPN
889,1:6500113:G>T,NM_031475.2:c.489-201G>T,\N,\N,2/12,Unknown significance,\N,intron_variant,0.512,\N,\N,ESPN
890,1:6500145:G>T,NM_031475.2:c.489-169G>T,\N,\N,2/12,Benign,\N,intron_variant,3.094,0.1566,1KG_AFR_AF,ESPN
891,1:6500184:CG>C,NM_031475.2:c.489-128del,\N,\N,2/12,Unknown significance,\N,intron_variant,\N,\N,\N,ESPN
892,1:6500233:C>T,NM_031475.2:c.489-81C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,7.457,\N,\N,ESPN
893,1:6500239:G>T,NM_031475.2:c.489-75G>T,\N,\N,2/12,Unknown significance,\N,intron_variant,3.509,0.0008,1KG_AFR_AF,ESPN
894,1:6500269:G>C,NM_031475.2:c.489-45G>C,\N,\N,2/12,Unknown significance,\N,intron_variant,5.812,0.0008,1KG_AFR_AF,ESPN
895,1:6500291:C>T,NM_031475.2:c.489-23C>T,\N,\N,2/12,Unknown significance,\N,intron_variant,10.11,0.0008,1KG_AFR_AF,ESPN
896,1:6500304:G>A,NM_031475.2:c.489-10G>A,\N,\N,2/12,Unknown significance,\N,intron_variant,4.048,0.0001755,EXAC_NFE_AF,ESPN
897,1:6500304:G>C,NM_031475.2:c.489-10G>C,\N,\N,2/12,Unknown significance,\N,intron_variant,1.381,0.001,1KG_EAS_AF,ESPN
898,1:6500309:C>T,NM_031475.2:c.489-5C>T,\N,\N,2/12,Unknown significance,\N,splice_region_variant&intron_variant,14.91,\N,\N,ESPN
899,1:6500319:T>G,NM_031475.2:c.494T>G,NP_113663.2:p.Val165Gly,3/13,\N,Unknown significance,\N,missense_variant,23.3,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,ESPN
900,1:6500329:A>G,NM_031475.2:c.504A>G,NP_113663.2:p.Gln168=,3/13,\N,Unknown significance,\N,synonymous_variant,3.899,0.00204918,EXAC_EAS_AF,ESPN
901,1:6500343:C>T,NM_031475.2:c.518C>T,NP_113663.2:p.Ala173Val,3/13,\N,Unknown significance,\N,missense_variant,23.7,0.0019685,EXAC_FIN_AF,ESPN
902,1:6500349:C>T,NM_031475.2:c.524C>T,NP_113663.2:p.Pro175Leu,3/13,\N,Unknown significance,\N,missense_variant,31,0.00194553,EXAC_FIN_AF,ESPN
903,1:6500352:TGTACCTGGCGTGCCAGGAGGGCCACCTGGAGGTGACCCA>T,NM_031475.2:c.536_574del,NP_113663.2:p.Ala179_Leu191del,3/13,\N,Unknown significance,\N,inframe_deletion,21.4,\N,\N,ESPN
904,1:6500382:A>T,NM_031475.2:c.557A>T,NP_113663.2:p.Glu186Val,3/13,\N,Unknown significance,\N,missense_variant,25,0.000243427,EXAC_SAS_AF,ESPN
905,1:6500385:T>G,NM_031475.2:c.560T>G,NP_113663.2:p.Val187Gly,3/13,\N,Unknown significance,\N,missense_variant,23.1,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,ESPN
906,1:6500388:C>T,NM_031475.2:c.563C>T,NP_113663.2:p.Thr188Ile,3/13,\N,Likely benign,\N,missense_variant,21.2,0.000900901,EXAC_EAS_AF,ESPN
907,1:6500395:C>T,NM_031475.2:c.570C>T,NP_113663.2:p.Tyr190=,3/13,\N,Unknown significance,\N,synonymous_variant,12.71,0.00294118,EXAC_EAS_AF,ESPN
908,1:6500407:A>T,NM_031475.2:c.582A>T,NP_113663.2:p.Glu194Asp,3/13,\N,Likely benign,\N,missense_variant,9.285,0.00253593,EXAC_AFR_AF,ESPN
909,1:6500408:T>C,NM_031475.2:c.583T>C,NP_113663.2:p.Cys195Arg,3/13,\N,Unknown significance,\N,missense_variant,27.4,0.0000855139,EXAC_NFE_AF,ESPN
910,1:6500411:G>A,NM_031475.2:c.586G>A,NP_113663.2:p.Gly196Ser,3/13,\N,Likely benign,\N,missense_variant,23.2,0.000117178,EVS_EA_AF,ESPN
911,1:6500413:C>T,NM_031475.2:c.588C>T,NP_113663.2:p.Gly196=,3/13,\N,Unknown significance,\N,synonymous_variant,21.3,0.000611247,EXAC_AMR_AF,ESPN
912,1:6500414:G>A,NM_031475.2:c.589G>A,NP_113663.2:p.Ala197Thr,3/13,\N,Unknown significance,\N,missense_variant,33,0.000081182,EXAC_NFE_AF,ESPN
913,1:6500415:C>A,NM_031475.2:c.590C>A,NP_113663.2:p.Ala197Glu,3/13,\N,Unknown significance,\N,missense_variant,33,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,ESPN
914,1:6500416:A>G,NM_031475.2:c.591A>G,NP_113663.2:p.Ala197=,3/13,\N,Unknown significance,\N,synonymous_variant,10.67,\N,\N,ESPN
915,1:6500418:A>C,NM_031475.2:c.593A>C,NP_113663.2:p.Asp198Ala,3/13,\N,Unknown significance,\N,missense_variant,23.7,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,ESPN
916,1:6500420:C>G,NM_031475.2:c.595C>G,NP_113663.2:p.Pro199Ala,3/13,\N,Unknown significance,\N,missense_variant,15.16,0.000112562,EXAC_SAS_AF,ESPN
917,1:6500422:GCA>G,NM_031475.2:c.599_600del,NP_113663.2:p.His200ArgfsTer69,3/13,\N,Unknown significance,\N,frameshift_variant,34,0.000542888,EXAC_AMR_AF,ESPN
918,1:6500429:C>A,NM_031475.2:c.604C>A,NP_113663.2:p.Arg202Ser,3/13,\N,Likely benign,\N,missense_variant,22.2,0.001,1KG_EUR_AF,ESPN
919,1:6500430:G>A,NM_031475.2:c.605G>A,NP_113663.2:p.Arg202His,3/13,\N,Unknown significance,\N,missense_variant,34,0.000490677,EXAC_AMR_AF,ESPN
920,1:6500431:C>T,NM_031475.2:c.606C>T,NP_113663.2:p.Arg202=,3/13,\N,Unknown significance,\N,synonymous_variant,21.7,0.000485909,EXAC_AMR_AF,ESPN
921,1:6500432:G>A,NM_031475.2:c.607G>A,NP_113663.2:p.Ala203Thr,3/13,\N,Unknown significance,\N,missense_variant,27.4,0.000838926,EXAC_AFR_AF,ESPN
922,1:6500434:C>T,NM_031475.2:c.609C>T,NP_113663.2:p.Ala203=,3/13,\N,Unknown significance,\N,synonymous_variant,19.62,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,ESPN
923,1:6500441:G>A,NM_031475.2:c.616G>A,NP_113663.2:p.Gly206Ser,3/13,\N,Unknown significance,\N,missense_variant,34,0.000109649,EXAC_SAS_AF,ESPN
924,1:6500442:G>T,NM_031475.2:c.617G>T,NP_113663.2:p.Gly206Val,3/13,\N,Unknown significance,\N,missense_variant,29.3,0.0000692425,EXAC_NFE_AF,ESPN
925,1:6500446:G>A,NM_031475.2:c.621G>A,NP_113663.2:p.Met207Ile,3/13,\N,Unknown significance,\N,missense_variant,24.6,0.000219684,EXAC_SAS_AF,ESPN
926,1:6500447:A>C,NM_031475.2:c.622A>C,NP_113663.2:p.Thr208Pro,3/13,\N,Unknown significance,\N,missense_variant,26.5,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,ESPN
927,1:6500453:C>G,NM_031475.2:c.628C>G,NP_113663.2:p.Leu210Val,3/13,\N,Unknown significance,\N,missense_variant,23.8,0.0000705517,EXAC_NFE_AF,ESPN
928,1:6500454:T>G,NM_031475.2:c.629T>G,NP_113663.2:p.Leu210Arg,3/13,\N,Unknown significance,\N,missense_variant,24.3,0.0000699692,EXAC_NFE_AF,ESPN
929,1:6500463:C>T,NM_031475.2:c.638C>T,NP_113663.2:p.Ala213Val,3/13,\N,Unknown significance,\N,missense_variant,34,0.000074239,EXAC_NFE_AF,ESPN
930,1:6500464:G>A,NM_031475.2:c.639G>A,NP_113663.2:p.Ala213=,3/13,\N,Unknown significance,\N,synonymous_variant,18.31,0.000486381,EXAC_AFR_AF,ESPN
931,1:6500475:G>A,NM_031475.2:c.650G>A,NP_113663.2:p.Gly217Asp,3/13,\N,Unknown significance,\N,missense_variant,29.1,0.000112816,EXAC_SAS_AF,ESPN
932,1:6500481:G>C,NM_031475.2:c.656G>C,NP_113663.2:p.Ser219Thr,3/13,\N,Likely benign,\N,missense_variant,15.95,0.0000812216,EXAC_NFE_AF,ESPN
933,1:6500491:C>T,NM_031475.2:c.666C>T,NP_113663.2:p.Ile222=,3/13,\N,Unknown significance,\N,synonymous_variant,21.5,\N,\N,ESPN
934,1:6500494:G>C,NM_031475.2:c.669G>C,NP_113663.2:p.Val223=,3/13,\N,Unknown significance,\N,synonymous_variant,12.43,\N,\N,ESPN
935,1:6500504:A>G,NM_031475.2:c.675+4A>G,\N,\N,3/12,Unknown significance,\N,splice_region_variant&intron_variant,16.81,\N,\N,ESPN
936,1:6500505:G>C,NM_031475.2:c.675+5G>C,\N,\N,3/12,Unknown significance,\N,splice_region_variant&intron_variant,16.68,0.000121921,EXAC_SAS_AF,ESPN
937,1:6500507:T>C,NM_031475.2:c.675+7T>C,\N,\N,3/12,Unknown significance,\N,splice_region_variant&intron_variant,11.59,\N,\N,ESPN
938,1:6500508:C>G,NM_031475.2:c.675+8C>G,\N,\N,3/12,Unknown significance,\N,splice_region_variant&intron_variant,14.3,0.0008,1KG_AFR_AF,ESPN
939,1:6500509:C>T,NM_031475.2:c.675+9C>T,\N,\N,3/12,Benign,\N,intron_variant,17.14,0.113924,EXAC_AFR_AF,ESPN
940,1:6500513:C>G,NM_031475.2:c.675+13C>G,\N,\N,3/12,Unknown significance,\N,intron_variant,15.64,\N,\N,ESPN
941,1:6500513:C>A,NM_031475.2:c.675+13C>A,\N,\N,3/12,Unknown significance,\N,intron_variant,17.38,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,ESPN
942,1:6500519:C>A,NM_031475.2:c.675+19C>A,\N,\N,3/12,Unknown significance,\N,intron_variant,16.52,0.00152905,EXAC_AMR_AF,ESPN
943,1:6500520:G>A,NM_031475.2:c.675+20G>A,\N,\N,3/12,Unknown significance,\N,intron_variant,13.78,0.000216076,EXAC_NFE_AF,ESPN
944,1:6500527:A>C,NM_031475.2:c.675+27A>C,\N,\N,3/12,Unknown significance,\N,intron_variant,7.221,0.000168067,EXAC_SAS_AF,ESPN
945,1:6500529:G>A,NM_031475.2:c.675+29G>A,\N,\N,3/12,Unknown significance,\N,intron_variant,7.334,0.001,1KG_EAS_AF,ESPN
946,1:6500539:G>T,NM_031475.2:c.675+39G>T,\N,\N,3/12,Unknown significance,\N,intron_variant,6.713,\N,\N,ESPN
947,1:6500547:G>A,NM_031475.2:c.675+47G>A,\N,\N,3/12,Benign,\N,intron_variant,8.242,0.188312,EXAC_AFR_AF,ESPN
948,1:6500604:C>CG,NM_031475.2:c.676-79dup,\N,\N,3/12,Benign,\N,intron_variant,8.303,0.6203,1KG_AFR_AF,ESPN
949,1:6500608:C>G,NM_031475.2:c.676-78C>G,\N,\N,3/12,Unknown significance,\N,intron_variant,3.631,\N,\N,ESPN
950,1:6500610:AC>A,NM_031475.2:c.676-75del,\N,\N,3/12,Unknown significance,\N,intron_variant,4.415,\N,\N,ESPN
951,1:6500625:G>C,NM_031475.2:c.676-61G>C,\N,\N,3/12,Unknown significance,\N,intron_variant,7.439,\N,\N,ESPN
952,1:6500626:C>CG,NM_031475.2:c.676-57dup,\N,\N,3/12,Benign,\N,intron_variant,12.79,1,1KG_ALL_AF|1KG_AFR_AF|1KG_AMR_AF|1KG_EAS_AF|1KG_EUR_AF|1KG_SAS_AF,ESPN
953,1:6500626:C>G,NM_031475.2:c.676-60C>G,\N,\N,3/12,Unknown significance,\N,intron_variant,11.24,\N,\N,ESPN
954,1:6500632:T>A,NM_031475.2:c.676-54T>A,\N,\N,3/12,Unknown significance,\N,intron_variant,1.751,0.001,1KG_EUR_AF,ESPN
955,1:6500640:C>T,NM_031475.2:c.676-46C>T,\N,\N,3/12,Benign,\N,intron_variant,8.973,0.025,EXAC_OTH_AF,ESPN
956,1:6500646:G>A,NM_031475.2:c.676-40G>A,\N,\N,3/12,Unknown significance,\N,intron_variant,6.29,0.00120773,EXAC_NFE_AF,ESPN
957,1:6500652:CCCCCGCCCCCCTCT>C,NM_031475.2:c.676-25_676-12del,\N,\N,3/12,Unknown significance,\N,intron_variant,7.164,\N,\N,ESPN
958,1:6500656:C>T,NM_031475.2:c.676-30C>T,\N,\N,3/12,Unknown significance,\N,intron_variant,9.839,\N,\N,ESPN
959,1:6500660:C>A,NM_031475.2:c.676-26C>A,\N,\N,3/12,Benign,\N,intron_variant,9.378,0.108108,EXAC_AMR_AF,ESPN
960,1:6500662:C>A,NM_031475.2:c.676-24C>A,\N,\N,3/12,Benign,\N,intron_variant,8.068,0.00617284,EXAC_AFR_AF,ESPN
961,1:6500671:G>C,NM_031475.2:c.676-15G>C,\N,\N,3/12,Benign,\N,intron_variant,3.67,0.0238095,EXAC_EAS_AF,ESPN
962,1:6500675:G>C,NM_031475.2:c.676-11G>C,\N,\N,3/12,Unknown significance,\N,intron_variant,0.636,\N,\N,ESPN
963,1:6500679:C>T,NM_031475.2:c.676-7C>T,\N,\N,3/12,Unknown significance,\N,splice_region_variant&intron_variant,7.801,0.000141163,EXAC_SAS_AF,ESPN
964,1:6500680:G>T,NM_031475.2:c.676-6G>T,\N,\N,3/12,Benign,\N,splice_region_variant&intron_variant,4.941,0.00892857,EXAC_AMR_AF,ESPN
965,1:6500696:C>G,NM_031475.2:c.686C>G,NP_113663.2:p.Thr229Ser,4/13,\N,Unknown significance,\N,missense_variant,22.4,\N,\N,ESPN
966,1:6500697:C>G,NM_031475.2:c.687C>G,NP_113663.2:p.Thr229=,4/13,\N,Unknown significance,\N,synonymous_variant,17.04,0.00409836,EXAC_EAS_AF,ESPN
967,1:6500698:G>A,NM_031475.2:c.688G>A,NP_113663.2:p.Asp230Asn,4/13,\N,Unknown significance,\N,missense_variant,24.8,0,EXAC_ALL_AF|EXAC_AFR_AF|EXAC_AMR_AF|EXAC_EAS_AF|EXAC_FIN_AF|EXAC_NFE_AF|EXAC_OTH_AF|EXAC_SAS_AF,ESPN
968,1:6500698:G>T,NM_031475.2:c.688G>T,NP_113663.2:p.Asp230Tyr,4/13,\N,Unknown significance,\N,missense_variant,30,0.000327011,EXAC_NFE_AF,ESPN
969,1:6500712:C>G,NM_031475.2:c.702C>G,NP_113663.2:p.Ser234=,4/13,\N,Benign,\N,synonymous_variant,16.9,0.236111,EXAC_FIN_AF,ESPN
970,1:6500716:C>G,NM_031475.2:c.706C>G,NP_113663.2:p.Gln236Glu,4/13,\N,Benign,\N,missense_variant,15.47,0.156962,EXAC_AFR_AF,ESPN
971,1:6500728:G>A,NM_031475.2:c.718G>A,NP_113663.2:p.Gly240Ser,4/13,\N,Unknown significance,\N,missense_variant,31,0.000166445,EXAC_NFE_AF,ESPN
972,1:6500729:G>A,NM_031475.2:c.719G>A,NP_113663.2:p.Gly240Asp,4/13,\N,Unknown significance,\N,missense_variant,28.6,0.000260552,EXAC_SAS_AF,ESPN
973,1:6500740:A>T,NM_031475.2:c.730A>T,NP_113663.2:p.Met244Leu,4/13,\N,Unknown significance,\N,missense_variant,12.35,\N,\N,ESPN
974,1:6500741:T>C,NM_031475.2:c.731T>C,NP_113663.2:p.Met244Thr,4/13,\N,Unknown significance,\N,missense_variant,23,\N,\N,ESPN
975,1:6500753:C>T,NM_031475.2:c.743C>T,NP_113663.2:p.Ala248Val,4/13,\N,Unknown significance,\N,missense_variant,34,0.00116009,EXAC_AFR_AF,ESPN
976,1:6500754:G>C,NM_031475.2:c.744G>C,NP_113663.2:p.Ala248=,4/13,\N,Unknown significance,\N,synonymous_variant,15.35,0.000698714,EXAC_NFE_AF,ESPN
977,1:6500762:G>A,NM_031475.2:c.752G>A,NP_113663.2:p.Gly251Asp,4/13,\N,Benign,\N,missense_variant,29,0.0262597,EXAC_NFE_AF,ESPN
978,1:6500770:A>T,NM_031475.2:c.760A>T,NP_113663.2:p.Lys254Ter,4/13,\N,Unknown significance,\N,stop_gained,39,0.000128107,EXAC_SAS_AF,ESPN
979,1:6500778:C>CAGCT,NM_031475.2:c.769_772dup,NP_113663.2:p.Trp258Ter,4/13,\N,Unknown significance,\N,frameshift_variant,33,\N,\N,ESPN
980,1:6500780:G>T,NM_031475.2:c.770G>T,NP_113663.2:p.Ser257Ile,4/13,\N,Unknown significance,\N,missense_variant,27.4,0.00129534,EXAC_AMR_AF,ESPN
981,1:6500787:G>A,NM_031475.2:c.777G>A,NP_113663.2:p.Leu259=,4/13,\N,Unknown significance,\N,synonymous_variant,11.3,0.000128833,EXAC_SAS_AF,ESPN
982,1:6500790:G>C,NM_031475.2:c.780G>C,NP_113663.2:p.Leu260=,4/13,\N,Unknown significance,\N,synonymous_variant,10.33,\N,\N,ESPN
983,1:6500792:T>A,NM_031475.2:c.782T>A,NP_113663.2:p.Leu261Gln,4/13,\N,Unknown significance,\N,missense_variant,24.6,0.00013031,EXAC_NFE_AF,ESPN
984,1:6500799:C>A,NM_031475.2:c.789C>A,NP_113663.2:p.Gly263=,4/13,\N,Unknown significance,\N,synonymous_variant,22,0.00103306,EXAC_AFR_AF,ESPN
985,1:6500801:G>A,NM_031475.2:c.791G>A,NP_113663.2:p.Gly264Glu,4/13,\N,Unknown significance,\N,missense_variant,27.1,\N,\N,ESPN
986,1:6500807:T>G,NM_031475.2:c.797T>G,NP_113663.2:p.Ile266Ser,4/13,\N,Unknown significance,\N,missense_variant,24.9,\N,\N,ESPN
987,1:6500817:C>G,NM_031475.2:c.807C>G,NP_113663.2:p.Asp269Glu,4/13,\N,Unknown significance,\N,missense_variant,26.5,0.00165563,EXAC_AMR_AF,ESPN
988,1:6500820:G>A,NM_031475.2:c.810G>A,NP_113663.2:p.Leu270=,4/13,\N,Benign,\N,synonymous_variant,12.77,0.00682594,EXAC_AMR_AF,ESPN
989,1:6500823:G>A,NM_031475.2:c.813G>A,NP_113663.2:p.Trp271Ter,4/13,\N,Unknown significance,\N,stop_gained,37,\N,\N,ESPN
990,1:6500826:CG>C,NM_031475.2:c.819del,NP_113663.2:p.Thr274ProfsTer12,4/13,\N,Unknown significance,\N,frameshift_variant,35,\N,\N,ESPN
991,1:6500827:G>T,NM_031475.2:c.817G>T,NP_113663.2:p.Gly273Trp,4/13,\N,Unknown significance,\N,missense_variant,29.5,0.00263158,EXAC_FIN_AF,ESPN
992,1:6500830:A>C,NM_031475.2:c.820A>C,NP_113663.2:p.Thr274Pro,4/13,\N,Unknown significance,\N,missense_variant,26.6,0.003125,OTO_US_AF,ESPN
993,1:6500833:C>G,NM_031475.2:c.823C>G,NP_113663.2:p.Pro275Ala,4/13,\N,Likely benign,\N,missense_variant,19.04,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,ESPN
994,1:6500835:G>T,NM_031475.2:c.825G>T,NP_113663.2:p.Pro275=,4/13,\N,Unknown significance,\N,synonymous_variant,12.28,\N,\N,ESPN
995,1:6500836:C>T,NM_031475.2:c.826C>T,NP_113663.2:p.Leu276=,4/13,\N,Unknown significance,\N,synonymous_variant,14.68,0.00135501,EXAC_EAS_AF,ESPN
996,1:6500839:C>T,NM_031475.2:c.829C>T,NP_113663.2:p.His277Tyr,4/13,\N,Unknown significance,\N,missense_variant,22.5,0.0025,OTO_AJ_AF,ESPN
997,1:6500851:G>A,NM_031475.2:c.841G>A,NP_113663.2:p.Glu281Lys,4/13,\N,Unknown significance,\N,missense_variant,27.4,0.000279799,EXAC_NFE_AF,ESPN
998,1:6500867:A>G,NM_031475.2:c.857A>G,NP_113663.2:p.Glu286Gly,4/13,\N,Benign,\N,missense_variant&splice_region_variant,24.3,0.00787402,EXAC_AFR_AF,ESPN
999,1:6500876:C>T,NM_031475.2:c.858+8C>T,\N,\N,4/12,Unknown significance,\N,splice_region_variant&intron_variant,12.35,\N,\N,ESPN
1000,1:6500879:G>T,NM_031475.2:c.858+11G>T,\N,\N,4/12,Benign,\N,intron_variant,8.412,0.020235,EXAC_NFE_AF,ESPN
1001,1:6500888:G>A,NM_031475.2:c.858+20G>A,\N,\N,4/12,Unknown significance,\N,intron_variant,0.25,0.0010661,EXAC_NFE_AF,ESPN
1002,1:6500919:T>C,NM_031475.2:c.858+51T>C,\N,\N,4/12,Benign,\N,intron_variant,2.428,0.6551,1KG_AFR_AF,ESPN
1003,1:6500922:A>C,NM_031475.2:c.858+54A>C,\N,\N,4/12,Unknown significance,\N,intron_variant,0.373,\N,\N,ESPN
1004,1:6500935:CCGGGCGCGGGGGTCCCAGCTCG>C,NM_031475.2:c.859-55_859-34del,\N,\N,4/12,Unknown significance,\N,intron_variant,\N,\N,\N,ESPN
1005,1:6500944:G>T,NM_031475.2:c.859-50G>T,\N,\N,4/12,Unknown significance,\N,intron_variant,2.809,\N,\N,ESPN
1006,1:6500950:C>T,NM_031475.2:c.859-44C>T,\N,\N,4/12,Unknown significance,\N,intron_variant,7.45,\N,\N,ESPN
1007,1:6500956:CGCGGCCGCGGCCGGGTCCTCACT>C,NM_031475.2:c.859-34_859-12del,\N,\N,4/12,Unknown significance,\N,intron_variant,12.82,\N,\N,ESPN
1008,1:6500958:C>T,NM_031475.2:c.859-36C>T,\N,\N,4/12,Unknown significance,\N,intron_variant,4.238,\N,\N,ESPN
1009,1:6500960:G>A,NM_031475.2:c.859-34G>A,\N,\N,4/12,Unknown significance,\N,intron_variant,5.846,\N,\N,ESPN
1010,1:6500962:C>CGCGGCCGGGTCCTCACTGCGTGCCCCCGCAGT,NM_031475.2:c.859-29_861dup,NP_113663.2:p.Cys288GlyfsTer16,\N,4/12,Unknown significance,\N,intron_variant,3.492,\N,\N,ESPN
1011,1:6500972:T>G,NM_031475.2:c.859-22T>G,\N,\N,4/12,Unknown significance,\N,intron_variant,8.23,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,ESPN
1012,1:6500987:C>G,NM_031475.2:c.859-7C>G,\N,\N,4/12,Unknown significance,\N,splice_region_variant&intron_variant,13.8,\N,\N,ESPN
1013,1:6500990:G>A,NM_031475.2:c.859-4G>A,\N,\N,4/12,Unknown significance,\N,splice_region_variant&intron_variant,13.06,\N,\N,ESPN
1014,1:6500992:A>T,NM_031475.2:c.859-2A>T,\N,\N,4/12,Unknown significance,\N,splice_acceptor_variant,24.4,0.00108696,EXAC_EAS_AF,ESPN
1015,1:6501002:G>C,NM_031475.2:c.867G>C,NP_113663.2:p.Gln289His,5/13,\N,Unknown significance,\N,missense_variant,24,\N,\N,ESPN
1016,1:6501003:A>G,NM_031475.2:c.868A>G,NP_113663.2:p.Ile290Val,5/13,\N,Unknown significance,\N,missense_variant,18.41,0.000883392,EXAC_AMR_AF,ESPN
1017,1:6501009:G>A,NM_031475.2:c.874G>A,NP_113663.2:p.Val292Ile,5/13,\N,Likely benign,\N,missense_variant,22.6,0.0000777968,EXAC_NFE_AF,ESPN
1018,1:6501015:A>G,NM_031475.2:c.880A>G,NP_113663.2:p.Asn294Asp,5/13,\N,Unknown significance,\N,missense_variant,26,0.0000672676,EXAC_NFE_AF,ESPN
1019,1:6501022:C>T,NM_031475.2:c.887C>T,NP_113663.2:p.Ala296Val,5/13,\N,Benign,\N,missense_variant,24.7,0.00766423,EXAC_AFR_AF,ESPN
1020,1:6501025:A>G,NM_031475.2:c.890A>G,NP_113663.2:p.Glu297Gly,5/13,\N,Likely benign,\N,missense_variant,22.9,0.00299401,EXAC_OTH_AF,ESPN
1021,1:6501032:C>A,NM_031475.2:c.897C>A,NP_113663.2:p.Asp299Glu,5/13,\N,Likely benign,\N,missense_variant,23,0.000120443,EXAC_NFE_AF,ESPN
1022,1:6501032:C>T,NM_031475.2:c.897C>T,NP_113663.2:p.Asp299=,5/13,\N,Unknown significance,\N,synonymous_variant,19.69,0.000117014,EVS_EA_AF,ESPN
1023,1:6501033:G>A,NM_031475.2:c.898G>A,NP_113663.2:p.Val300Ile,5/13,\N,Likely benign,\N,missense_variant,14.47,0.0000385089,EXAC_NFE_AF,ESPN
1024,1:6501035:C>A,NM_031475.2:c.900C>A,NP_113663.2:p.Val300=,5/13,\N,Unknown significance,\N,synonymous_variant,19.76,0.0000371692,EXAC_NFE_AF,ESPN
1025,1:6501036:C>A,NM_031475.2:c.901C>A,NP_113663.2:p.Arg301Ser,5/13,\N,Likely benign,\N,missense_variant,24.2,0,EXAC_ALL_AF|EXAC_AFR_AF|EXAC_AMR_AF|EXAC_EAS_AF|EXAC_FIN_AF|EXAC_NFE_AF|EXAC_OTH_AF|EXAC_SAS_AF,ESPN
1026,1:6501036:C>T,NM_031475.2:c.901C>T,NP_113663.2:p.Arg301Cys,5/13,\N,Unknown significance,\N,missense_variant,35,0.000262743,EXAC_EAS_AF,ESPN
1027,1:6501037:G>A,NM_031475.2:c.902G>A,NP_113663.2:p.Arg301His,5/13,\N,Unknown significance,\N,missense_variant,26.1,0.000238322,EXAC_AMR_AF,ESPN
1028,1:6501038:C>A,NM_031475.2:c.903C>A,NP_113663.2:p.Arg301=,5/13,\N,Unknown significance,\N,synonymous_variant,22.7,\N,\N,ESPN
1029,1:6501039:G>A,NM_031475.2:c.904G>A,NP_113663.2:p.Asp302Asn,5/13,\N,Unknown significance,\N,missense_variant,24.6,0.0000335706,EXAC_NFE_AF,ESPN
1030,1:6501040:A>G,NM_031475.2:c.905A>G,NP_113663.2:p.Asp302Gly,5/13,\N,Unknown significance,\N,missense_variant,23.8,0.0000328537,EXAC_NFE_AF,ESPN
1031,1:6501044:C>G,NM_031475.2:c.909C>G,NP_113663.2:p.Arg303=,5/13,\N,Benign,\N,synonymous_variant,18.43,0.305191,EXAC_AFR_AF,ESPN
1032,1:6501045:G>A,NM_031475.2:c.910G>A,NP_113663.2:p.Asp304Asn,5/13,\N,Unknown significance,\N,missense_variant,27.7,0.000170184,EXAC_EAS_AF,ESPN
1033,1:6501047:C>T,NM_031475.2:c.912C>T,NP_113663.2:p.Asp304=,5/13,\N,Unknown significance,\N,synonymous_variant,19.93,0.000457247,EVS_AA_AF,ESPN
1034,1:6501049:G>A,NM_031475.2:c.914G>A,NP_113663.2:p.Gly305Glu,5/13,\N,Unknown significance,\N,missense_variant,32,0.000290613,EXAC_AMR_AF,ESPN
1035,1:6501051:T>G,NM_031475.2:c.916T>G,NP_113663.2:p.Tyr306Asp,5/13,\N,Unknown significance,\N,missense_variant,24.7,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,ESPN
1036,1:6501054:A>G,NM_031475.2:c.919A>G,NP_113663.2:p.Thr307Ala,5/13,\N,Unknown significance,\N,missense_variant,23,0.000156544,EXAC_EAS_AF,ESPN
1037,1:6501055:C>T,NM_031475.2:c.920C>T,NP_113663.2:p.Thr307Met,5/13,\N,Unknown significance,\N,missense_variant,34,\N,\N,ESPN
1038,1:6501057:G>A,NM_031475.2:c.922G>A,NP_113663.2:p.Ala308Thr,5/13,\N,Unknown significance,\N,missense_variant,32,0.000131857,EXAC_AMR_AF,ESPN
1039,1:6501062:C>T,NM_031475.2:c.927C>T,NP_113663.2:p.Ala309=,5/13,\N,Unknown significance,\N,synonymous_variant,22.6,0.0000211918,EXAC_NFE_AF,ESPN
1040,1:6501063:G>A,NM_031475.2:c.928G>A,NP_113663.2:p.Asp310Asn,5/13,\N,Unknown significance,\N,missense_variant,34,0.0000210252,EXAC_NFE_AF,ESPN
1041,1:6501064:A>C,NM_031475.2:c.929A>C,NP_113663.2:p.Asp310Ala,5/13,\N,Unknown significance,\N,missense_variant,29.8,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,ESPN
1042,1:6501066:C>T,NM_031475.2:c.931C>T,NP_113663.2:p.Leu311=,5/13,\N,Unknown significance,\N,synonymous_variant,15.01,0.000149835,EXAC_SAS_AF,ESPN
1043,1:6501068:G>C,NM_031475.2:c.933G>C,NP_113663.2:p.Leu311=,5/13,\N,Unknown significance,\N,synonymous_variant,12.11,0.001,1KG_SAS_AF,ESPN
1044,1:6501070:C>T,NM_031475.2:c.935C>T,NP_113663.2:p.Ser312Leu,5/13,\N,Unknown significance,\N,missense_variant,27.8,0.001,1KG_EUR_AF,ESPN
1045,1:6501077:C>T,NM_031475.2:c.942C>T,NP_113663.2:p.Phe314=,5/13,\N,Unknown significance,\N,synonymous_variant,14.83,0.0000194962,EXAC_NFE_AF,ESPN
1046,1:6501080:C>A,NM_031475.2:c.945C>A,NP_113663.2:p.Asn315Lys,5/13,\N,Unknown significance,\N,missense_variant,27.2,0.00014518,EXAC_SAS_AF,ESPN
1047,1:6501080:C>G,NM_031475.2:c.945C>G,NP_113663.2:p.Asn315Lys,5/13,\N,Unknown significance,\N,missense_variant,25.8,0.000019317,EXAC_NFE_AF,ESPN
1048,1:6501080:C>T,NM_031475.2:c.945C>T,NP_113663.2:p.Asn315=,5/13,\N,Unknown significance,\N,synonymous_variant,18.64,0.0000386339,EXAC_NFE_AF,ESPN
1049,1:6501085:A>G,NM_031475.2:c.950A>G,NP_113663.2:p.His317Arg,5/13,\N,Unknown significance,\N,missense_variant,24.8,0.000174703,EXAC_NFE_AF,ESPN
1050,1:6501096:A>C,NM_031475.2:c.961A>C,NP_113663.2:p.Thr321Pro,5/13,\N,Unknown significance,\N,missense_variant,24.4,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,ESPN
1051,1:6501100:G>A,NM_031475.2:c.965G>A,NP_113663.2:p.Arg322His,5/13,\N,Likely benign,\N,missense_variant,24.2,\N,\N,ESPN
1052,1:6501103:A>G,NM_031475.2:c.968A>G,NP_113663.2:p.Tyr323Cys,5/13,\N,Unknown significance,\N,missense_variant,23.5,\N,\N,ESPN
1053,1:6501105:C>A,NM_031475.2:c.970C>A,NP_113663.2:p.Leu324Met,5/13,\N,Unknown significance,\N,missense_variant,23.4,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,ESPN
1054,1:6501109:G>A,NM_031475.2:c.974G>A,NP_113663.2:p.Arg325His,5/13,\N,Benign,\N,missense_variant,26.4,0.0068,1KG_AFR_AF,ESPN
1055,1:6501109:G>T,NM_031475.2:c.974G>T,NP_113663.2:p.Arg325Leu,5/13,\N,Unknown significance,\N,missense_variant,23.3,0.0000185199,EXAC_NFE_AF,ESPN
1056,1:6501110:C>T,NM_031475.2:c.975C>T,NP_113663.2:p.Arg325=,5/13,\N,Unknown significance,\N,synonymous_variant,13.33,0.000216169,EXAC_SAS_AF,ESPN
1057,1:6501113:G>A,NM_031475.2:c.978G>A,NP_113663.2:p.Thr326=,5/13,\N,Unknown significance,\N,synonymous_variant,12.58,0.00148368,EXAC_OTH_AF,ESPN
1058,1:6501123:C>T,NM_031475.2:c.988C>T,NP_113663.2:p.Leu330=,5/13,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,13.48,0.0000732279,EXAC_SAS_AF,ESPN
1059,1:6501126:G>A,NM_031475.2:c.990+1G>A,\N,\N,5/12,Unknown significance,\N,splice_donor_variant,23.9,\N,\N,ESPN
1060,1:6501129:C>T,NM_031475.2:c.990+4C>T,\N,\N,5/12,Unknown significance,\N,splice_region_variant&intron_variant,13.67,0.000411184,EXAC_EAS_AF,ESPN
1061,1:6501130:G>A,NM_031475.2:c.990+5G>A,\N,\N,5/12,Unknown significance,\N,splice_region_variant&intron_variant,14.35,0.00001925,EXAC_NFE_AF,ESPN
1062,1:6501138:A>C,NM_031475.2:c.990+13A>C,\N,\N,5/12,Unknown significance,\N,intron_variant,0.44,0.00014241,EXAC_EAS_AF,ESPN
1063,1:6501150:C>T,NM_031475.2:c.990+25C>T,\N,\N,5/12,Unknown significance,\N,intron_variant,6.481,0.0000206262,EXAC_NFE_AF,ESPN
1064,1:6501151:G>A,NM_031475.2:c.990+26G>A,\N,\N,5/12,Unknown significance,\N,intron_variant,8.984,0.0000777847,EXAC_SAS_AF,ESPN
1065,1:6501151:G>T,NM_031475.2:c.990+26G>T,\N,\N,5/12,Unknown significance,\N,intron_variant,7.621,0.0000777847,EXAC_SAS_AF,ESPN
1066,1:6501152:C>A,NM_031475.2:c.990+27C>A,\N,\N,5/12,Unknown significance,\N,intron_variant,9.038,0.0000773754,EXAC_SAS_AF,ESPN
1067,1:6501152:C>T,NM_031475.2:c.990+27C>T,\N,\N,5/12,Benign,\N,intron_variant,8.509,0.0957755,EXAC_FIN_AF,ESPN
1068,1:6501158:T>C,NM_031475.2:c.990+33T>C,\N,\N,5/12,Unknown significance,\N,intron_variant,5.575,\N,\N,ESPN
1069,1:6501164:T>C,NM_031475.2:c.990+39T>C,\N,\N,5/12,Unknown significance,\N,intron_variant,9.274,\N,\N,ESPN
1070,1:6501166:G>A,NM_031475.2:c.990+41G>A,\N,\N,5/12,Unknown significance,\N,intron_variant,12.02,0.00175215,EXAC_AFR_AF,ESPN
1071,1:6501170:C>A,NM_031475.2:c.990+45C>A,\N,\N,5/12,Unknown significance,\N,intron_variant,13.18,0.000024432,EXAC_NFE_AF,ESPN
1072,1:6501191:C>T,NM_031475.2:c.990+66C>T,\N,\N,5/12,Benign,\N,intron_variant,14.31,0.0673,1KG_AFR_AF,ESPN
1073,1:6501219:G>A,NM_031475.2:c.990+94G>A,\N,\N,5/12,Unknown significance,\N,intron_variant,9.631,0.0008,1KG_AFR_AF,ESPN
1074,1:6501231:C>T,NM_031475.2:c.990+106C>T,\N,\N,5/12,Unknown significance,\N,intron_variant,9.391,\N,\N,ESPN
1075,1:6501241:G>A,NM_031475.2:c.990+116G>A,\N,\N,5/12,Unknown significance,\N,intron_variant,6.468,\N,\N,ESPN
1076,1:6501263:C>T,NM_031475.2:c.990+138C>T,\N,\N,5/12,Unknown significance,\N,intron_variant,8.526,\N,\N,ESPN
1077,1:6501295:G>T,NM_031475.2:c.990+170G>T,\N,\N,5/12,Unknown significance,\N,intron_variant,1.119,0.001,1KG_EAS_AF,ESPN
1078,1:6501298:G>A,NM_031475.2:c.990+173G>A,\N,\N,5/12,Unknown significance,\N,intron_variant,8.159,\N,\N,ESPN
1079,1:6501303:A>G,NM_031475.2:c.990+178A>G,\N,\N,5/12,Unknown significance,\N,intron_variant,6.467,0.0008,1KG_AFR_AF,ESPN
1080,1:6501315:G>A,NM_031475.2:c.990+190G>A,\N,\N,5/12,Benign,\N,intron_variant,7.23,0.0287,1KG_AFR_AF,ESPN
1081,1:6501326:A>G,NM_031475.2:c.990+201A>G,\N,\N,5/12,Unknown significance,\N,intron_variant,4.205,0.0014,1KG_AMR_AF,ESPN
1082,1:6501331:A>T,NM_031475.2:c.990+206A>T,\N,\N,5/12,Unknown significance,\N,intron_variant,2.931,0.001,1KG_EUR_AF,ESPN
1083,1:6501345:C>G,NM_031475.2:c.990+220C>G,\N,\N,5/12,Benign,\N,intron_variant,3.561,0.0681,1KG_AFR_AF,ESPN
1084,1:6501387:G>A,NM_031475.2:c.990+262G>A,\N,\N,5/12,Unknown significance,\N,intron_variant,6.349,0.0045,1KG_AFR_AF,ESPN
1085,1:6501458:A>G,NM_031475.2:c.990+333A>G,\N,\N,5/12,Unknown significance,\N,intron_variant,0.422,\N,\N,ESPN
1086,1:6501468:A>C,NM_031475.2:c.990+343A>C,\N,\N,5/12,Benign,\N,intron_variant,2.899,0.0136,1KG_AFR_AF,ESPN
1087,1:6501474:C>A,NM_031475.2:c.990+349C>A,\N,\N,5/12,Benign,\N,intron_variant,7.359,0.0605,1KG_AFR_AF,ESPN
1088,1:6501532:C>G,NM_031475.2:c.990+407C>G,\N,\N,5/12,Benign,\N,intron_variant,1.072,0.3525,1KG_AFR_AF,ESPN
1089,1:6501570:G>A,NM_031475.2:c.990+445G>A,\N,\N,5/12,Unknown significance,\N,intron_variant,5.331,0.0008,1KG_AFR_AF,ESPN
1090,1:6501571:A>C,NM_031475.2:c.990+446A>C,\N,\N,5/12,Benign,\N,intron_variant,2.841,0.0953,1KG_AFR_AF,ESPN
1091,1:6501594:A>G,NM_031475.2:c.990+469A>G,\N,\N,5/12,Unknown significance,\N,intron_variant,0.315,\N,\N,ESPN
1092,1:6501637:C>T,NM_031475.2:c.990+512C>T,\N,\N,5/12,Unknown significance,\N,intron_variant,1.185,0.0015,1KG_AFR_AF,ESPN
1093,1:6501638:G>A,NM_031475.2:c.990+513G>A,\N,\N,5/12,Unknown significance,\N,intron_variant,3.402,0.002,1KG_SAS_AF,ESPN
1094,1:6501657:G>T,NM_031475.2:c.990+532G>T,\N,\N,5/12,Unknown significance,\N,intron_variant,0.609,0.001,1KG_EAS_AF,ESPN
1095,1:6501690:A>G,NM_031475.2:c.990+565A>G,\N,\N,5/12,Unknown significance,\N,intron_variant,0.091,0.0008,1KG_AFR_AF,ESPN
1096,1:6501725:GC>G,NM_031475.2:c.990+601del,\N,\N,5/12,Unknown significance,\N,intron_variant,4.974,\N,\N,ESPN
1097,1:6501745:G>T,NM_031475.2:c.990+620G>T,\N,\N,5/12,Benign,\N,intron_variant,3.057,0.0356,1KG_AFR_AF,ESPN
1098,1:6501749:A>T,NM_031475.2:c.990+624A>T,\N,\N,5/12,Unknown significance,\N,intron_variant,4.541,0.001,1KG_EUR_AF,ESPN
1099,1:6501770:G>A,NM_031475.2:c.990+645G>A,\N,\N,5/12,Benign,\N,intron_variant,4.196,0.062,1KG_AFR_AF,ESPN
1100,1:6501791:C>G,NM_031475.2:c.990+666C>G,\N,\N,5/12,Unknown significance,\N,intron_variant,5.031,\N,\N,ESPN
1101,1:6501794:A>C,NM_031475.2:c.990+669A>C,\N,\N,5/12,Unknown significance,\N,intron_variant,2.205,\N,\N,ESPN
1102,1:6501796:T>C,NM_031475.2:c.990+671T>C,\N,\N,5/12,Benign,\N,intron_variant,1.386,0.6316,1KG_AFR_AF,ESPN
1103,1:6501803:G>A,NM_031475.2:c.990+678G>A,\N,\N,5/12,Unknown significance,\N,intron_variant,0.253,\N,\N,ESPN
1104,1:6501813:C>T,NM_031475.2:c.990+688C>T,\N,\N,5/12,Benign,\N,intron_variant,1.948,0.0348,1KG_EUR_AF,ESPN
1105,1:6501844:G>A,NM_031475.2:c.990+719G>A,\N,\N,5/12,Unknown significance,\N,intron_variant,10.02,\N,\N,ESPN
1106,1:6501865:C>T,NM_031475.2:c.990+740C>T,\N,\N,5/12,Benign,\N,intron_variant,7.136,0.0325,1KG_AFR_AF,ESPN
1107,1:6501866:G>A,NM_031475.2:c.990+741G>A,\N,\N,5/12,Benign,\N,intron_variant,7.056,0.0197,1KG_AFR_AF,ESPN
1108,1:6501869:G>T,NM_031475.2:c.990+744G>T,\N,\N,5/12,Unknown significance,\N,intron_variant,7.142,0.0008,1KG_AFR_AF,ESPN
1109,1:6501903:G>A,NM_031475.2:c.990+778G>A,\N,\N,5/12,Unknown significance,\N,intron_variant,0.299,\N,\N,ESPN
1110,1:6501903:G>C,NM_031475.2:c.990+778G>C,\N,\N,5/12,Unknown significance,\N,intron_variant,0.073,\N,\N,ESPN
1111,1:6501919:TC>T,NM_031475.2:c.990+803del,\N,\N,5/12,Benign,\N,intron_variant,0.533,0.5272,1KG_AFR_AF,ESPN
1112,1:6501924:C>G,NM_031475.2:c.990+799C>G,\N,\N,5/12,Unknown significance,\N,intron_variant,1.257,0.001,1KG_SAS_AF,ESPN
1113,1:6501925:C>G,NM_031475.2:c.990+800C>G,\N,\N,5/12,Unknown significance,\N,intron_variant,1.277,0.0023,1KG_AFR_AF,ESPN
1114,1:6501925:C>T,NM_031475.2:c.990+800C>T,\N,\N,5/12,Unknown significance,\N,intron_variant,2.729,0.0031,1KG_SAS_AF,ESPN
1115,1:6501926:C>CG,NM_031475.2:c.990+801_990+802insG,\N,\N,5/12,Benign,\N,intron_variant,2.304,0.0197,1KG_AFR_AF,ESPN
1116,1:6501934:A>AG,NM_031475.2:c.990+814dup,\N,\N,5/12,Unknown significance,\N,intron_variant,\N,\N,\N,ESPN
1117,1:6501946:C>T,NM_031475.2:c.990+821C>T,\N,\N,5/12,Unknown significance,\N,intron_variant,9.518,\N,\N,ESPN
1118,1:6501954:G>A,NM_031475.2:c.990+829G>A,\N,\N,5/12,Unknown significance,\N,intron_variant,11.74,\N,\N,ESPN
1119,1:6501962:C>T,NM_031475.2:c.990+837C>T,\N,\N,5/12,Unknown significance,\N,intron_variant,11.51,0.001,1KG_SAS_AF,ESPN
1120,1:6501976:G>A,NM_031475.2:c.990+851G>A,\N,\N,5/12,Unknown significance,\N,intron_variant,13.2,\N,\N,ESPN
1121,1:6502023:C>T,NM_031475.2:c.990+898C>T,\N,\N,5/12,Benign,\N,intron_variant,0.349,0.0348,1KG_AFR_AF,ESPN
1122,1:6502024:G>A,NM_031475.2:c.990+899G>A,\N,\N,5/12,Unknown significance,\N,intron_variant,0.653,\N,\N,ESPN
1123,1:6502025:C>T,NM_031475.2:c.990+900C>T,\N,\N,5/12,Benign,\N,intron_variant,1.197,0.0091,1KG_AFR_AF,ESPN
1124,1:6502030:G>A,NM_031475.2:c.990+905G>A,\N,\N,5/12,Unknown significance,\N,intron_variant,5.937,\N,\N,ESPN
1125,1:6502036:C>A,NM_031475.2:c.990+911C>A,\N,\N,5/12,Benign,\N,intron_variant,3.814,0.0099,1KG_EAS_AF,ESPN
1126,1:6502051:T>G,NM_031475.2:c.990+926T>G,\N,\N,5/12,Unknown significance,\N,intron_variant,7.318,\N,\N,ESPN
1127,1:6502053:G>A,NM_031475.2:c.990+928G>A,\N,\N,5/12,Unknown significance,\N,intron_variant,6.472,0.001,1KG_EUR_AF,ESPN
1128,1:6502058:G>T,NM_031475.2:c.990+933G>T,\N,\N,5/12,Unknown significance,\N,intron_variant,5.207,0.0029,1KG_AMR_AF,ESPN
1129,1:6502070:C>A,NM_031475.2:c.990+945C>A,\N,\N,5/12,Unknown significance,\N,intron_variant,8.651,\N,\N,ESPN
1130,1:6502082:AGG>A,NM_031475.2:c.990+959_990+960del,\N,\N,5/12,Unknown significance,\N,intron_variant,\N,\N,\N,ESPN
1131,1:6502090:T>C,NM_031475.2:c.990+965T>C,\N,\N,5/12,Benign,\N,intron_variant,1.123,0.0069,1KG_EAS_AF,ESPN
1132,1:6502095:T>C,NM_031475.2:c.990+970T>C,\N,\N,5/12,Unknown significance,\N,intron_variant,2.409,\N,\N,ESPN
1133,1:6502098:G>C,NM_031475.2:c.990+973G>C,\N,\N,5/12,Unknown significance,\N,intron_variant,0.141,\N,\N,ESPN
1134,1:6502107:T>C,NM_031475.2:c.990+982T>C,\N,\N,5/12,Benign,\N,intron_variant,4.36,0.181,1KG_SAS_AF,ESPN
1135,1:6502121:C>G,NM_031475.2:c.990+996C>G,\N,\N,5/12,Unknown significance,\N,intron_variant,4.781,\N,\N,ESPN
1136,1:6502132:G>A,NM_031475.2:c.990+1007G>A,\N,\N,5/12,Benign,\N,intron_variant,3.556,0.0182,1KG_AFR_AF,ESPN
1137,1:6502178:G>A,NM_031475.2:c.990+1053G>A,\N,\N,5/12,Unknown significance,\N,intron_variant,10.54,\N,\N,ESPN
1138,1:6502202:G>A,NM_031475.2:c.990+1077G>A,\N,\N,5/12,Unknown significance,\N,intron_variant,11.21,\N,\N,ESPN
1139,1:6502207:C>T,NM_031475.2:c.990+1082C>T,\N,\N,5/12,Unknown significance,\N,intron_variant,5.795,0.001,1KG_SAS_AF,ESPN
1140,1:6502236:C>T,NM_031475.2:c.990+1111C>T,\N,\N,5/12,Unknown significance,\N,intron_variant,5.012,0.0008,1KG_AFR_AF,ESPN
1141,1:6502237:G>A,NM_031475.2:c.990+1112G>A,\N,\N,5/12,Benign,\N,intron_variant,0.351,0.0257,1KG_AFR_AF,ESPN
1142,1:6502263:T>C,NM_031475.2:c.990+1138T>C,\N,\N,5/12,Unknown significance,\N,intron_variant,4.827,\N,\N,ESPN
1143,1:6502280:C>T,NM_031475.2:c.990+1155C>T,\N,\N,5/12,Benign,\N,intron_variant,6.381,0.0086,1KG_AMR_AF,ESPN
1144,1:6502287:C>T,NM_031475.2:c.990+1162C>T,\N,\N,5/12,Unknown significance,\N,intron_variant,6.605,\N,\N,ESPN
1145,1:6502308:G>A,NM_031475.2:c.990+1183G>A,\N,\N,5/12,Unknown significance,\N,intron_variant,6.249,0.001,1KG_EUR_AF,ESPN
1146,1:6502316:C>A,NM_031475.2:c.990+1191C>A,\N,\N,5/12,Unknown significance,\N,intron_variant,1.393,\N,\N,ESPN
1147,1:6502317:G>A,NM_031475.2:c.990+1192G>A,\N,\N,5/12,Unknown significance,\N,intron_variant,3.931,0.0008,1KG_AFR_AF,ESPN
1148,1:6502335:T>C,NM_031475.2:c.990+1210T>C,\N,\N,5/12,Benign,\N,intron_variant,5.391,0.0068,1KG_AFR_AF,ESPN
1149,1:6502352:C>T,NM_031475.2:c.990+1227C>T,\N,\N,5/12,Benign,\N,intron_variant,7.761,0.0764,1KG_AFR_AF,ESPN
1150,1:6502355:G>A,NM_031475.2:c.990+1230G>A,\N,\N,5/12,Unknown significance,\N,intron_variant,8.387,\N,\N,ESPN
1151,1:6502372:T>C,NM_031475.2:c.990+1247T>C,\N,\N,5/12,Benign,\N,intron_variant,5.296,0.0257,1KG_AFR_AF,ESPN
1152,1:6502412:C>A,NM_031475.2:c.990+1287C>A,\N,\N,5/12,Unknown significance,\N,intron_variant,0.363,\N,\N,ESPN
1153,1:6502455:C>T,NM_031475.2:c.990+1330C>T,\N,\N,5/12,Unknown significance,\N,intron_variant,1.476,0.0015,1KG_AFR_AF,ESPN
1154,1:6502458:A>G,NM_031475.2:c.990+1333A>G,\N,\N,5/12,Benign,\N,intron_variant,0.21,0.0764,1KG_AFR_AF,ESPN
1155,1:6502463:T>A,NM_031475.2:c.990+1338T>A,\N,\N,5/12,Benign,\N,intron_variant,3.019,0.0378,1KG_AFR_AF,ESPN
1156,1:6502466:TA>T,NM_031475.2:c.990+1346del,\N,\N,5/12,Unknown significance,\N,intron_variant,\N,0.0023,1KG_AFR_AF,ESPN
1157,1:6502483:A>T,NM_031475.2:c.990+1358A>T,\N,\N,5/12,Unknown significance,\N,intron_variant,0.312,0.0014,1KG_AMR_AF,ESPN
1158,1:6502486:T>A,NM_031475.2:c.990+1361T>A,\N,\N,5/12,Unknown significance,\N,intron_variant,3.838,\N,\N,ESPN
1159,1:6502506:C>T,NM_031475.2:c.990+1381C>T,\N,\N,5/12,Unknown significance,\N,intron_variant,0.024,0.0031,1KG_SAS_AF,ESPN
1160,1:6502533:C>A,NM_031475.2:c.990+1408C>A,\N,\N,5/12,Unknown significance,\N,intron_variant,7.641,\N,\N,ESPN
1161,1:6502533:C>T,NM_031475.2:c.990+1408C>T,\N,\N,5/12,Unknown significance,\N,intron_variant,7.801,\N,\N,ESPN
1162,1:6502545:A>G,NM_031475.2:c.990+1420A>G,\N,\N,5/12,Unknown significance,\N,intron_variant,0.906,0.0008,1KG_AFR_AF,ESPN
1163,1:6502548:C>T,NM_031475.2:c.990+1423C>T,\N,\N,5/12,Benign,\N,intron_variant,0.23,0.1429,1KG_EAS_AF,ESPN
1164,1:6502549:G>A,NM_031475.2:c.990+1424G>A,\N,\N,5/12,Unknown significance,\N,intron_variant,0.012,0.001,1KG_EAS_AF,ESPN
1165,1:6502633:A>C,NM_031475.2:c.990+1508A>C,\N,\N,5/12,Unknown significance,\N,intron_variant,0.541,\N,\N,ESPN
1166,1:6502634:A>T,NM_031475.2:c.990+1509A>T,\N,\N,5/12,Unknown significance,\N,intron_variant,0.248,\N,\N,ESPN
1167,1:6502647:A>G,NM_031475.2:c.990+1522A>G,\N,\N,5/12,Unknown significance,\N,intron_variant,0.721,\N,\N,ESPN
1168,1:6502668:G>A,NM_031475.2:c.990+1543G>A,\N,\N,5/12,Unknown significance,\N,intron_variant,0.096,0.001,1KG_EUR_AF|1KG_SAS_AF,ESPN
1169,1:6502669:C>T,NM_031475.2:c.990+1544C>T,\N,\N,5/12,Unknown significance,\N,intron_variant,1.947,0.001,1KG_EUR_AF,ESPN
1170,1:6502701:G>A,NM_031475.2:c.990+1576G>A,\N,\N,5/12,Unknown significance,\N,intron_variant,0.074,0.001,1KG_EAS_AF,ESPN
1171,1:6502706:G>T,NM_031475.2:c.990+1581G>T,\N,\N,5/12,Unknown significance,\N,intron_variant,0.339,0.001,1KG_SAS_AF,ESPN
1172,1:6502810:C>T,NM_031475.2:c.990+1685C>T,\N,\N,5/12,Benign,\N,intron_variant,4.308,0.0109,1KG_EAS_AF,ESPN
1173,1:6502818:CT>C,NM_031475.2:c.990+1695del,\N,\N,5/12,Benign,\N,intron_variant,2.69,0.1823,1KG_AFR_AF,ESPN
1174,1:6502852:C>T,NM_031475.2:c.991-1689C>T,\N,\N,5/12,Benign,\N,intron_variant,1.039,0.0764,1KG_AFR_AF,ESPN
1175,1:6502876:C>T,NM_031475.2:c.991-1665C>T,\N,\N,5/12,Unknown significance,\N,intron_variant,1.632,0.001,1KG_EAS_AF,ESPN
1176,1:6502885:G>A,NM_031475.2:c.991-1656G>A,\N,\N,5/12,Unknown significance,\N,intron_variant,0.115,0.0008,1KG_AFR_AF,ESPN
1177,1:6502908:A>G,NM_031475.2:c.991-1633A>G,\N,\N,5/12,Benign,\N,intron_variant,1.422,0.0136,1KG_AFR_AF,ESPN
1178,1:6502919:C>T,NM_031475.2:c.991-1622C>T,\N,\N,5/12,Benign,\N,intron_variant,0.072,0.0378,1KG_AFR_AF,ESPN
1179,1:6502927:CA>C,NM_031475.2:c.991-1593del,\N,\N,5/12,Unknown significance,\N,intron_variant,\N,\N,\N,ESPN
1180,1:6502927:CAA>C,NM_031475.2:c.991-1594_991-1593del,\N,\N,5/12,Unknown significance,\N,intron_variant,\N,\N,\N,ESPN
1181,1:6503001:G>A,NM_031475.2:c.991-1540G>A,\N,\N,5/12,Benign,\N,intron_variant,2.125,0.005,1KG_EUR_AF,ESPN
1182,1:6503004:G>A,NM_031475.2:c.991-1537G>A,\N,\N,5/12,Unknown significance,\N,intron_variant,2.475,0.0008,1KG_AFR_AF,ESPN
1183,1:6503027:T>C,NM_031475.2:c.991-1514T>C,\N,\N,5/12,Benign,\N,intron_variant,4.129,0.0575,1KG_AFR_AF,ESPN
1184,1:6503043:T>C,NM_031475.2:c.991-1498T>C,\N,\N,5/12,Unknown significance,\N,intron_variant,6.796,0.0008,1KG_AFR_AF,ESPN
1185,1:6503080:A>C,NM_031475.2:c.991-1461A>C,\N,\N,5/12,Unknown significance,\N,intron_variant,3.11,\N,\N,ESPN
1186,1:6503097:T>C,NM_031475.2:c.991-1444T>C,\N,\N,5/12,Benign,\N,intron_variant,1.669,0.0112,1KG_SAS_AF,ESPN
1187,1:6503100:C>T,NM_031475.2:c.991-1441C>T,\N,\N,5/12,Unknown significance,\N,intron_variant,1.604,0.001,1KG_EUR_AF,ESPN
1188,1:6503126:G>A,NM_031475.2:c.991-1415G>A,\N,\N,5/12,Unknown significance,\N,intron_variant,2.028,0.002,1KG_EUR_AF,ESPN
1189,1:6503142:G>A,NM_031475.2:c.991-1399G>A,\N,\N,5/12,Unknown significance,\N,intron_variant,1.688,\N,\N,ESPN
1190,1:6503156:C>T,NM_031475.2:c.991-1385C>T,\N,\N,5/12,Benign,\N,intron_variant,0.656,0.0091,1KG_AFR_AF,ESPN
1191,1:6503189:G>A,NM_031475.2:c.991-1352G>A,\N,\N,5/12,Benign,\N,intron_variant,0.231,0.0053,1KG_AFR_AF,ESPN
1192,1:6503192:A>C,NM_031475.2:c.991-1349A>C,\N,\N,5/12,Unknown significance,\N,intron_variant,0.222,\N,\N,ESPN
1193,1:6503210:C>T,NM_031475.2:c.991-1331C>T,\N,\N,5/12,Unknown significance,\N,intron_variant,5.546,0.0008,1KG_AFR_AF,ESPN
1194,1:6503231:T>TA,NM_031475.2:c.991-1293dup,\N,\N,5/12,Unknown significance,\N,intron_variant,0.135,\N,\N,ESPN
1195,1:6503231:TAA>T,NM_031475.2:c.991-1294_991-1293del,\N,\N,5/12,Unknown significance,\N,intron_variant,\N,\N,\N,ESPN
1196,1:6503271:G>A,NM_031475.2:c.991-1270G>A,\N,\N,5/12,Unknown significance,\N,intron_variant,1.949,\N,\N,ESPN
1197,1:6503280:T>A,NM_031475.2:c.991-1261T>A,\N,\N,5/12,Unknown significance,\N,intron_variant,4.904,0.001,1KG_SAS_AF,ESPN
1198,1:6503349:G>A,NM_031475.2:c.991-1192G>A,\N,\N,5/12,Unknown significance,\N,intron_variant,2.749,0.0008,1KG_AFR_AF,ESPN
1199,1:6503363:C>A,NM_031475.2:c.991-1178C>A,\N,\N,5/12,Benign,\N,intron_variant,2.973,0.0325,1KG_AFR_AF,ESPN
1200,1:6503382:C>T,NM_031475.2:c.991-1159C>T,\N,\N,5/12,Benign,\N,intron_variant,0.566,0.006,1KG_EAS_AF,ESPN
1201,1:6503405:C>G,NM_031475.2:c.991-1136C>G,\N,\N,5/12,Benign,\N,intron_variant,3.854,0.0219,1KG_AFR_AF,ESPN
1202,1:6503442:T>C,NM_031475.2:c.991-1099T>C,\N,\N,5/12,Unknown significance,\N,intron_variant,0.313,\N,\N,ESPN
1203,1:6503466:C>T,NM_031475.2:c.991-1075C>T,\N,\N,5/12,Unknown significance,\N,intron_variant,8.347,\N,\N,ESPN
1204,1:6503484:CA>C,NM_031475.2:c.991-1056del,\N,\N,5/12,Unknown significance,\N,intron_variant,\N,\N,\N,ESPN
1205,1:6503495:G>C,NM_031475.2:c.991-1046G>C,\N,\N,5/12,Unknown significance,\N,intron_variant,0.939,0.001,1KG_EAS_AF,ESPN
1206,1:6503544:C>T,NM_031475.2:c.991-997C>T,\N,\N,5/12,Unknown significance,\N,intron_variant,1.213,\N,\N,ESPN
1207,1:6503547:G>A,NM_031475.2:c.991-994G>A,\N,\N,5/12,Unknown significance,\N,intron_variant,5.061,\N,\N,ESPN
1208,1:6503587:C>T,NM_031475.2:c.991-954C>T,\N,\N,5/12,Unknown significance,\N,intron_variant,2.4,\N,\N,ESPN
1209,1:6503624:A>G,NM_031475.2:c.991-917A>G,\N,\N,5/12,Benign,\N,intron_variant,1.014,0.5136,1KG_AFR_AF,ESPN
1210,1:6503666:C>T,NM_031475.2:c.991-875C>T,\N,\N,5/12,Benign,\N,intron_variant,8.204,0.0121,1KG_AFR_AF,ESPN
1211,1:6503668:G>A,NM_031475.2:c.991-873G>A,\N,\N,5/12,Unknown significance,\N,intron_variant,6.98,\N,\N,ESPN
1212,1:6503739:C>T,NM_031475.2:c.991-802C>T,\N,\N,5/12,Unknown significance,\N,intron_variant,17.37,\N,\N,ESPN
1213,1:6503740:G>A,NM_031475.2:c.991-801G>A,\N,\N,5/12,Unknown significance,\N,intron_variant,15.35,0.0008,1KG_AFR_AF,ESPN
1214,1:6503754:C>T,NM_031475.2:c.991-787C>T,\N,\N,5/12,Unknown significance,\N,intron_variant,5.518,0.0014,1KG_AMR_AF,ESPN
1215,1:6503758:C>T,NM_031475.2:c.991-783C>T,\N,\N,5/12,Unknown significance,\N,intron_variant,6.892,0.0014,1KG_AMR_AF,ESPN
1216,1:6503759:G>A,NM_031475.2:c.991-782G>A,\N,\N,5/12,Benign,\N,intron_variant,7.176,0.0139,1KG_EAS_AF,ESPN
1217,1:6503767:G>A,NM_031475.2:c.991-774G>A,\N,\N,5/12,Unknown significance,\N,intron_variant,11.44,0.0008,1KG_AFR_AF,ESPN
1218,1:6503829:G>A,NM_031475.2:c.991-712G>A,\N,\N,5/12,Unknown significance,\N,intron_variant,13.94,\N,\N,ESPN
1219,1:6503836:T>C,NM_031475.2:c.991-705T>C,\N,\N,5/12,Unknown significance,\N,intron_variant,5.894,\N,\N,ESPN
1220,1:6503847:G>C,NM_031475.2:c.991-694G>C,\N,\N,5/12,Unknown significance,\N,intron_variant,2.494,0.0008,1KG_AFR_AF,ESPN
1221,1:6503872:G>A,NM_031475.2:c.991-669G>A,\N,\N,5/12,Unknown significance,\N,intron_variant,10.96,0.001,1KG_SAS_AF,ESPN
1222,1:6503911:A>G,NM_031475.2:c.991-630A>G,\N,\N,5/12,Benign,\N,intron_variant,12.8,0.0798,1KG_SAS_AF,ESPN
1223,1:6503922:GC>G,NM_031475.2:c.991-614del,\N,\N,5/12,Benign,\N,intron_variant,11.54,0.0113,1KG_AFR_AF,ESPN
1224,1:6503924:C>G,NM_031475.2:c.991-617C>G,\N,\N,5/12,Unknown significance,\N,intron_variant,12.01,\N,\N,ESPN
1225,1:6503974:G>A,NM_031475.2:c.991-567G>A,\N,\N,5/12,Unknown significance,\N,intron_variant,5.603,\N,\N,ESPN
1226,1:6503983:G>A,NM_031475.2:c.991-558G>A,\N,\N,5/12,Benign,\N,intron_variant,0.202,0.0153,1KG_SAS_AF,ESPN
1227,1:6503991:C>T,NM_031475.2:c.991-550C>T,\N,\N,5/12,Unknown significance,\N,intron_variant,7.431,0.0008,1KG_AFR_AF,ESPN
1228,1:6503992:G>A,NM_031475.2:c.991-549G>A,\N,\N,5/12,Unknown significance,\N,intron_variant,5.445,\N,\N,ESPN
1229,1:6503994:G>T,NM_031475.2:c.991-547G>T,\N,\N,5/12,Unknown significance,\N,intron_variant,1.048,\N,\N,ESPN
1230,1:6504032:A>T,NM_031475.2:c.991-509A>T,\N,\N,5/12,Unknown significance,\N,intron_variant,3.454,0.0008,1KG_AFR_AF,ESPN
1231,1:6504047:C>T,NM_031475.2:c.991-494C>T,\N,\N,5/12,Unknown significance,\N,intron_variant,0.23,0.0008,1KG_AFR_AF,ESPN
1232,1:6504069:C>T,NM_031475.2:c.991-472C>T,\N,\N,5/12,Unknown significance,\N,intron_variant,5.159,0.001,1KG_SAS_AF,ESPN
1233,1:6504081:C>G,NM_031475.2:c.991-460C>G,\N,\N,5/12,Unknown significance,\N,intron_variant,0.918,0.001,1KG_EAS_AF,ESPN
1234,1:6504094:G>A,NM_031475.2:c.991-447G>A,\N,\N,5/12,Unknown significance,\N,intron_variant,3.1,\N,\N,ESPN
1235,1:6504116:C>T,NM_031475.2:c.991-425C>T,\N,\N,5/12,Benign,\N,intron_variant,5.372,0.0061,1KG_AFR_AF,ESPN
1236,1:6504128:T>C,NM_031475.2:c.991-413T>C,\N,\N,5/12,Unknown significance,\N,intron_variant,0.835,0.0014,1KG_AMR_AF,ESPN
1237,1:6504143:C>T,NM_031475.2:c.991-398C>T,\N,\N,5/12,Unknown significance,\N,intron_variant,1.752,0.004,1KG_EAS_AF,ESPN
1238,1:6504144:G>A,NM_031475.2:c.991-397G>A,\N,\N,5/12,Unknown significance,\N,intron_variant,2.6,0.004,1KG_EUR_AF,ESPN
1239,1:6504184:C>T,NM_031475.2:c.991-357C>T,\N,\N,5/12,Unknown significance,\N,intron_variant,7.696,\N,\N,ESPN
1240,1:6504185:G>C,NM_031475.2:c.991-356G>C,\N,\N,5/12,Benign,\N,intron_variant,0.191,0.5015,1KG_AFR_AF,ESPN
1241,1:6504207:G>A,NM_031475.2:c.991-334G>A,\N,\N,5/12,Unknown significance,\N,intron_variant,2.289,0.0038,1KG_AFR_AF,ESPN
1242,1:6504211:C>T,NM_031475.2:c.991-330C>T,\N,\N,5/12,Unknown significance,\N,intron_variant,4.132,0.0029,1KG_AMR_AF,ESPN
1243,1:6504247:C>G,NM_031475.2:c.991-294C>G,\N,\N,5/12,Unknown significance,\N,intron_variant,2.471,\N,\N,ESPN
1244,1:6504308:A>G,NM_031475.2:c.991-233A>G,\N,\N,5/12,Unknown significance,\N,intron_variant,8.691,0.001,1KG_SAS_AF,ESPN
1245,1:6504343:T>C,NM_031475.2:c.991-198T>C,\N,\N,5/12,Unknown significance,\N,intron_variant,3.214,\N,\N,ESPN
1246,1:6504354:G>A,NM_031475.2:c.991-187G>A,\N,\N,5/12,Benign,\N,intron_variant,3.57,0.005,1KG_EAS_AF,ESPN
1247,1:6504396:G>A,NM_031475.2:c.991-145G>A,\N,\N,5/12,Unknown significance,\N,intron_variant,1.704,0.001,1KG_EAS_AF|1KG_EUR_AF,ESPN
1248,1:6504426:C>T,NM_031475.2:c.991-115C>T,\N,\N,5/12,Unknown significance,\N,intron_variant,0.262,0.002,1KG_SAS_AF,ESPN
1249,1:6504450:C>T,NM_031475.2:c.991-91C>T,\N,\N,5/12,Unknown significance,\N,intron_variant,4.031,0.0014,1KG_AMR_AF,ESPN
1250,1:6504482:T>C,NM_031475.2:c.991-59T>C,\N,\N,5/12,Benign,\N,intron_variant,2.794,0.0129,1KG_AFR_AF,ESPN
1251,1:6504491:A>G,NM_031475.2:c.991-50A>G,\N,\N,5/12,Unknown significance,\N,intron_variant,2.263,0.0000160411,EXAC_NFE_AF,ESPN
1252,1:6504492:C>T,NM_031475.2:c.991-49C>T,\N,\N,5/12,Unknown significance,\N,intron_variant,2.304,0.001,1KG_EAS_AF,ESPN
1253,1:6504493:G>A,NM_031475.2:c.991-48G>A,\N,\N,5/12,Unknown significance,\N,intron_variant,0.201,0.001,1KG_EUR_AF,ESPN
1254,1:6504498:T>C,NM_031475.2:c.991-43T>C,\N,\N,5/12,Unknown significance,\N,intron_variant,3.576,0.0000159887,EXAC_NFE_AF,ESPN
1255,1:6504505:A>G,NM_031475.2:c.991-36A>G,\N,\N,5/12,Unknown significance,\N,intron_variant,2.25,0.0000318107,EXAC_NFE_AF,ESPN
1256,1:6504506:T>C,NM_031475.2:c.991-35T>C,\N,\N,5/12,Unknown significance,\N,intron_variant,0.197,0.000493949,EXAC_EAS_AF,ESPN
1257,1:6504525:C>T,NM_031475.2:c.991-16C>T,\N,\N,5/12,Unknown significance,\N,intron_variant,1.231,0.000201654,EXAC_AFR_AF,ESPN
1258,1:6504531:T>A,NM_031475.2:c.991-10T>A,\N,\N,5/12,Unknown significance,\N,intron_variant,5.844,0.0000460462,EXAC_NFE_AF,ESPN
1259,1:6504535:C>G,NM_031475.2:c.991-6C>G,\N,\N,5/12,Unknown significance,\N,splice_region_variant&intron_variant,4.175,0.003125,OTO_US_AF,ESPN
1260,1:6504542:G>A,NM_031475.2:c.992G>A,NP_113663.2:p.Ser331Asn,6/13,\N,Unknown significance,\N,missense_variant&splice_region_variant,26.1,\N,\N,ESPN
1261,1:6504543:C>T,NM_031475.2:c.993C>T,NP_113663.2:p.Ser331=,6/13,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,13.75,0.0000612595,EXAC_SAS_AF,ESPN
1262,1:6504543:C>A,NM_031475.2:c.993C>A,NP_113663.2:p.Ser331Arg,6/13,\N,Unknown significance,\N,missense_variant&splice_region_variant,26.5,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,ESPN
1263,1:6504544:G>A,NM_031475.2:c.994G>A,NP_113663.2:p.Val332Met,6/13,\N,Unknown significance,\N,missense_variant,22.6,0.0000873057,EXAC_AMR_AF,ESPN
1264,1:6504550:C>T,NM_031475.2:c.1000C>T,NP_113663.2:p.His334Tyr,6/13,\N,Unknown significance,\N,missense_variant,27.5,0.0000151222,EXAC_NFE_AF,ESPN
1265,1:6504552:C>T,NM_031475.2:c.1002C>T,NP_113663.2:p.His334=,6/13,\N,Unknown significance,\N,synonymous_variant,12.4,0.0000971062,EXAC_AFR_AF,ESPN
1266,1:6504553:C>T,NM_031475.2:c.1003C>T,NP_113663.2:p.Arg335Cys,6/13,\N,Unknown significance,\N,missense_variant,26.3,0.00077688,EXAC_FIN_AF,ESPN
1267,1:6504553:C>A,NM_031475.2:c.1003C>A,NP_113663.2:p.Arg335Ser,6/13,\N,Unknown significance,\N,missense_variant,32,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,ESPN
1268,1:6504554:G>A,NM_031475.2:c.1004G>A,NP_113663.2:p.Arg335His,6/13,\N,Unknown significance,\N,missense_variant,25.2,0.0000301796,EXAC_NFE_AF,ESPN
1269,1:6504555:C>T,NM_031475.2:c.1005C>T,NP_113663.2:p.Arg335=,6/13,\N,Unknown significance,\N,synonymous_variant,16.83,0.0000968992,EXAC_AFR_AF,ESPN
1270,1:6504556:G>A,NM_031475.2:c.1006G>A,NP_113663.2:p.Val336Met,6/13,\N,Unknown significance,\N,missense_variant,27.2,0.000226963,EVS_AA_AF,ESPN
1271,1:6504560:T>A,NM_031475.2:c.1010T>A,NP_113663.2:p.Leu337His,6/13,\N,Unknown significance,\N,missense_variant,27.6,0.0000867152,EXAC_AMR_AF,ESPN
1272,1:6504565:C>T,NM_031475.2:c.1015C>T,NP_113663.2:p.Arg339Trp,6/13,\N,Unknown significance,\N,missense_variant,25.4,0.000116279,EVS_EA_AF,ESPN
1273,1:6504566:G>A,NM_031475.2:c.1016G>A,NP_113663.2:p.Arg339Gln,6/13,\N,Unknown significance,\N,missense_variant,25,0.000226963,EVS_AA_AF,ESPN
1274,1:6504571:C>T,NM_031475.2:c.1021C>T,NP_113663.2:p.Pro341Ser,6/13,\N,Unknown significance,\N,missense_variant,23,0.0000150236,EXAC_NFE_AF,ESPN
1275,1:6504575:C>T,NM_031475.2:c.1025C>T,NP_113663.2:p.Ser342Phe,6/13,\N,Benign,\N,missense_variant,25.5,0.00625,OTO_CO_AF,ESPN
1276,1:6504576:C>T,NM_031475.2:c.1026C>T,NP_113663.2:p.Ser342=,6/13,\N,Unknown significance,\N,synonymous_variant,12.2,0.00017313,EXAC_AMR_AF,ESPN
1277,1:6504577:G>A,NM_031475.2:c.1027G>A,NP_113663.2:p.Ala343Thr,6/13,\N,Likely benign,\N,missense_variant,0.534,0.00011566,EXAC_EAS_AF,ESPN
1278,1:6504586:G>A,NM_031475.2:c.1036G>A,NP_113663.2:p.Glu346Lys,6/13,\N,Unknown significance,\N,missense_variant,26.6,0.00104046,EXAC_EAS_AF,ESPN
1279,1:6504586:G>C,NM_031475.2:c.1036G>C,NP_113663.2:p.Glu346Gln,6/13,\N,Benign,\N,missense_variant,24.4,0.005,OTO_TR_AF,ESPN
1280,1:6504589:G>A,NM_031475.2:c.1039G>A,NP_113663.2:p.Ala347Thr,6/13,\N,Likely benign,\N,missense_variant,9.946,0.000116279,EVS_EA_AF,ESPN
1281,1:6504590:C>T,NM_031475.2:c.1040C>T,NP_113663.2:p.Ala347Val,6/13,\N,Likely benign,\N,missense_variant,10.23,\N,\N,ESPN
1282,1:6504598:C>T,NM_031475.2:c.1048C>T,NP_113663.2:p.Pro350Ser,6/13,\N,Unknown significance,\N,missense_variant,23.3,0.0038,1KG_AFR_AF,ESPN
1283,1:6504599:C>G,NM_031475.2:c.1049C>G,NP_113663.2:p.Pro350Arg,6/13,\N,Benign,\N,missense_variant,23.3,0.0051,1KG_SAS_AF,ESPN
1284,1:6504599:C>T,NM_031475.2:c.1049C>T,NP_113663.2:p.Pro350Leu,6/13,\N,Likely benign,\N,missense_variant,12.66,0.000060562,EXAC_SAS_AF,ESPN
1285,1:6504600:G>A,NM_031475.2:c.1050G>A,NP_113663.2:p.Pro350=,6/13,\N,Unknown significance,\N,synonymous_variant,9.472,0.001,1KG_SAS_AF,ESPN
1286,1:6504607:G>T,NM_031475.2:c.1057G>T,NP_113663.2:p.Gly353Cys,6/13,\N,Unknown significance,\N,missense_variant,26.9,0.0000149948,EXAC_NFE_AF,ESPN
1287,1:6504608:G>A,NM_031475.2:c.1058G>A,NP_113663.2:p.Gly353Asp,6/13,\N,Unknown significance,\N,missense_variant,27.5,0.0000149948,EXAC_NFE_AF,ESPN
1288,1:6504611:T>C,NM_031475.2:c.1061T>C,NP_113663.2:p.Met354Thr,6/13,\N,Unknown significance,\N,missense_variant,23,0.000060562,EXAC_SAS_AF,ESPN
1289,1:6504615:C>A,NM_031475.2:c.1065C>A,NP_113663.2:p.Ser355=,6/13,\N,Unknown significance,\N,synonymous_variant,16.77,0.0000899631,EXAC_NFE_AF,ESPN
1290,1:6504615:C>T,NM_031475.2:c.1065C>T,NP_113663.2:p.Ser355=,6/13,\N,Unknown significance,\N,synonymous_variant,15.49,0.00015124,EXAC_FIN_AF,ESPN
1291,1:6504618:A>C,NM_031475.2:c.1068A>C,NP_113663.2:p.Ser356=,6/13,\N,Benign,\N,synonymous_variant,0.557,0.005,OTO_TR_AF,ESPN
1292,1:6504619:C>T,NM_031475.2:c.1069C>T,NP_113663.2:p.Pro357Ser,6/13,\N,Benign,\N,missense_variant,28.6,0.0273077,EXAC_AFR_AF,ESPN
1293,1:6504625:A>C,NM_031475.2:c.1075A>C,NP_113663.2:p.Thr359Pro,6/13,\N,Benign,\N,missense_variant,25,0.02,OTO_TR_AF,ESPN
1294,1:6504627:C>A,NM_031475.2:c.1077C>A,NP_113663.2:p.Thr359=,6/13,\N,Unknown significance,\N,synonymous_variant,14.19,0.0000863707,EXAC_AMR_AF,ESPN
1295,1:6504628:A>C,NM_031475.2:c.1078A>C,NP_113663.2:p.Thr360Pro,6/13,\N,Unknown significance,\N,missense_variant,24.9,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,ESPN
1296,1:6504629:C>A,NM_031475.2:c.1079C>A,NP_113663.2:p.Thr360Lys,6/13,\N,Unknown significance,\N,missense_variant,33,0.000060562,EXAC_SAS_AF,ESPN
1297,1:6504629:C>T,NM_031475.2:c.1079C>T,NP_113663.2:p.Thr360Met,6/13,\N,Unknown significance,\N,missense_variant,28.9,0.0000961354,EXAC_AFR_AF,ESPN
1298,1:6504630:G>A,NM_031475.2:c.1080G>A,NP_113663.2:p.Thr360=,6/13,\N,Unknown significance,\N,synonymous_variant,12.8,0.000116279,EVS_EA_AF,ESPN
1299,1:6504635:C>T,NM_031475.2:c.1085C>T,NP_113663.2:p.Ser362Leu,6/13,\N,Unknown significance,\N,missense_variant,32,0.000060562,EXAC_SAS_AF,ESPN
1300,1:6504636:G>A,NM_031475.2:c.1086G>A,NP_113663.2:p.Ser362=,6/13,\N,Unknown significance,\N,synonymous_variant,4.906,0.000226963,EVS_AA_AF,ESPN
1301,1:6504644:C>T,NM_031475.2:c.1094C>T,NP_113663.2:p.Pro365Leu,6/13,\N,Unknown significance,\N,missense_variant,24.8,0.000060562,EXAC_SAS_AF,ESPN
1302,1:6504644:CGCT>C,NM_031475.2:c.1096_1098del,NP_113663.2:p.Leu366del,6/13,\N,Unknown significance,\N,inframe_deletion,5.775,0.00007494,EXAC_NFE_AF,ESPN
1303,1:6504645:G>A,NM_031475.2:c.1095G>A,NP_113663.2:p.Pro365=,6/13,\N,Unknown significance,\N,synonymous_variant,5.065,0.000060562,EXAC_SAS_AF,ESPN
1304,1:6504650:A>G,NM_031475.2:c.1100A>G,NP_113663.2:p.Asn367Ser,6/13,\N,Likely benign,\N,missense_variant,23.2,0.0000149876,EXAC_NFE_AF,ESPN
1305,1:6504651:C>A,NM_031475.2:c.1101C>A,NP_113663.2:p.Asn367Lys,6/13,\N,Likely benign,\N,missense_variant,26.7,0.0000863707,EXAC_AMR_AF,ESPN
1306,1:6504651:C>T,NM_031475.2:c.1101C>T,NP_113663.2:p.Asn367=,6/13,\N,Unknown significance,\N,synonymous_variant,10.31,0.0000863707,EXAC_AMR_AF,ESPN
1307,1:6504654:T>G,NM_031475.2:c.1104T>G,NP_113663.2:p.Phe368Leu,6/13,\N,Benign,\N,missense_variant,22.2,0.0121084,EXAC_AFR_AF,ESPN
1308,1:6504656:A>C,NM_031475.2:c.1106A>C,NP_113663.2:p.Asp369Ala,6/13,\N,Benign,\N,missense_variant,25.5,0.01,OTO_TR_AF,ESPN
1309,1:6504658:C>T,NM_031475.2:c.1108C>T,NP_113663.2:p.Leu370Phe,6/13,\N,Unknown significance,\N,missense_variant,26.2,0.000060562,EXAC_SAS_AF,ESPN
1310,1:6504660:C>T,NM_031475.2:c.1110C>T,NP_113663.2:p.Leu370=,6/13,\N,Unknown significance,\N,synonymous_variant,11.27,0.0000149876,EXAC_NFE_AF,ESPN
1311,1:6504665:C>T,NM_031475.2:c.1115C>T,NP_113663.2:p.Ser372Leu,6/13,\N,Unknown significance,\N,missense_variant,31,0.000115554,EXAC_EAS_AF,ESPN
1312,1:6504666:G>A,NM_031475.2:c.1116G>A,NP_113663.2:p.Ser372=,6/13,\N,Unknown significance,\N,synonymous_variant,9.333,0.000014988,EXAC_NFE_AF,ESPN
1313,1:6504670:A>G,NM_031475.2:c.1120A>G,NP_113663.2:p.Thr374Ala,6/13,\N,Likely benign,\N,missense_variant,4.998,0.000115554,EXAC_EAS_AF,ESPN
1314,1:6504676:A>G,NM_031475.2:c.1126A>G,NP_113663.2:p.Thr376Ala,6/13,\N,Unknown significance,\N,missense_variant,24.8,\N,\N,ESPN
1315,1:6504676:A>C,NM_031475.2:c.1126A>C,NP_113663.2:p.Thr376Pro,6/13,\N,Benign,\N,missense_variant,24.8,0.04,OTO_TR_AF,ESPN
1316,1:6504679:C>T,NM_031475.2:c.1129C>T,NP_113663.2:p.Leu377Phe,6/13,\N,Likely benign,\N,missense_variant,19.39,0.000231107,EXAC_EAS_AF,ESPN
1317,1:6504686:A>G,NM_031475.2:c.1136A>G,NP_113663.2:p.Asn379Ser,6/13,\N,Unknown significance,\N,missense_variant,25.3,0.000232558,EVS_EA_AF,ESPN
1318,1:6504687:C>CTACG,NM_031475.2:c.1138_1141dup,NP_113663.2:p.Asp381ValfsTer24,6/13,\N,Unknown significance,\N,frameshift_variant,34,\N,\N,ESPN
1319,1:6504689:A>G,NM_031475.2:c.1139A>G,NP_113663.2:p.Tyr380Cys,6/13,\N,Unknown significance,\N,missense_variant,25.8,0.0000605694,EXAC_SAS_AF,ESPN
1320,1:6504690:C>T,NM_031475.2:c.1140C>T,NP_113663.2:p.Tyr380=,6/13,\N,Unknown significance,\N,synonymous_variant,10.69,0.000115554,EXAC_EAS_AF,ESPN
1321,1:6504691:G>A,NM_031475.2:c.1141G>A,NP_113663.2:p.Asp381Asn,6/13,\N,Unknown significance,\N,missense_variant,23.1,0.0000299796,EXAC_NFE_AF,ESPN
1322,1:6504691:G>T,NM_031475.2:c.1141G>T,NP_113663.2:p.Asp381Tyr,6/13,\N,Unknown significance,\N,missense_variant,28,0.0000149898,EXAC_NFE_AF,ESPN
1323,1:6504692:A>C,NM_031475.2:c.1142A>C,NP_113663.2:p.Asp381Ala,6/13,\N,Benign,\N,missense_variant,24.4,0.015,OTO_TR_AF,ESPN
1324,1:6504694:T>C,NM_031475.2:c.1144T>C,NP_113663.2:p.Ser382Pro,6/13,\N,Unknown significance,\N,missense_variant,26.3,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,ESPN
1325,1:6504695:C>T,NM_031475.2:c.1145C>T,NP_113663.2:p.Ser382Phe,6/13,\N,Unknown significance,\N,missense_variant,28.8,0.0000149948,EXAC_NFE_AF,ESPN
1326,1:6504695:C>A,NM_031475.2:c.1145C>A,NP_113663.2:p.Ser382Tyr,6/13,\N,Unknown significance,\N,missense_variant,28,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,ESPN
1327,1:6504698:G>C,NM_031475.2:c.1148G>C,NP_113663.2:p.Cys383Ser,6/13,\N,Unknown significance,\N,missense_variant,24.9,0.000484555,EXAC_SAS_AF,ESPN
1328,1:6504700:T>C,NM_031475.2:c.1150T>C,NP_113663.2:p.Ser384Pro,6/13,\N,Benign,\N,missense_variant,14.38,0.035,OTO_TR_AF,ESPN
1329,1:6504703:T>C,NM_031475.2:c.1153T>C,NP_113663.2:p.Ser385Pro,6/13,\N,Benign,\N,missense_variant,26.1,0.18,OTO_TR_AF,ESPN
1330,1:6504708:C>G,NM_031475.2:c.1158C>G,NP_113663.2:p.Ser386Arg,6/13,\N,Unknown significance,\N,missense_variant,25.6,0.000116279,EVS_EA_AF,ESPN
1331,1:6504728:A>G,NM_031475.2:c.1178A>G,NP_113663.2:p.Gln393Arg,6/13,\N,Likely benign,\N,missense_variant,0.131,0.0000149943,EXAC_NFE_AF,ESPN
1332,1:6504731:A>C,NM_031475.2:c.1181A>C,NP_113663.2:p.His394Pro,6/13,\N,Benign,\N,missense_variant,0.018,0.01,OTO_TR_AF,ESPN
1333,1:6504732:C>A,NM_031475.2:c.1182C>A,NP_113663.2:p.His394Gln,6/13,\N,Likely benign,\N,missense_variant,5.314,0.000192493,EXAC_AFR_AF,ESPN
1334,1:6504732:C>T,NM_031475.2:c.1182C>T,NP_113663.2:p.His394=,6/13,\N,Unknown significance,\N,synonymous_variant,4.275,0.000116279,EVS_EA_AF,ESPN
1335,1:6504736:C>T,NM_031475.2:c.1186C>T,NP_113663.2:p.Pro396Ser,6/13,\N,Likely benign,\N,missense_variant,0.007,0.000348837,EVS_EA_AF,ESPN
1336,1:6504739:T>C,NM_031475.2:c.1189T>C,NP_113663.2:p.Cys397Arg,6/13,\N,Likely benign,\N,missense_variant,0.015,\N,\N,ESPN
1337,1:6504741:T>G,NM_031475.2:c.1191T>G,NP_113663.2:p.Cys397Trp,6/13,\N,Likely benign,\N,missense_variant&splice_region_variant,0.119,0.0000150033,EXAC_NFE_AF,ESPN
1338,1:6504744:T>C,NM_031475.2:c.1192+2T>C,\N,\N,6/12,Unknown significance,\N,splice_donor_variant,17.18,\N,\N,ESPN
1339,1:6504754:C>T,NM_031475.2:c.1192+12C>T,\N,\N,6/12,Unknown significance,\N,intron_variant,3.964,0.0000150191,EXAC_NFE_AF,ESPN
1340,1:6504765:C>G,NM_031475.2:c.1192+23C>G,\N,\N,6/12,Unknown significance,\N,intron_variant,0.445,0.0000150553,EXAC_NFE_AF,ESPN
1341,1:6504765:C>T,NM_031475.2:c.1192+23C>T,\N,\N,6/12,Unknown significance,\N,intron_variant,0.898,0.0000301105,EXAC_NFE_AF,ESPN
1342,1:6504766:G>A,NM_031475.2:c.1192+24G>A,\N,\N,6/12,Unknown significance,\N,intron_variant,2.785,0.0000968429,EXAC_AFR_AF,ESPN
1343,1:6504768:G>A,NM_031475.2:c.1192+26G>A,\N,\N,6/12,Unknown significance,\N,intron_variant,4.228,0.0000866401,EXAC_AMR_AF,ESPN
1344,1:6504771:G>A,NM_031475.2:c.1192+29G>A,\N,\N,6/12,Unknown significance,\N,intron_variant,5.257,0.0000150707,EXAC_NFE_AF,ESPN
1345,1:6504791:G>T,NM_031475.2:c.1192+49G>T,\N,\N,6/12,Unknown significance,\N,intron_variant,1.573,0.000226963,EVS_AA_AF,ESPN
1346,1:6504822:C>T,NM_031475.2:c.1192+80C>T,\N,\N,6/12,Unknown significance,\N,intron_variant,3.985,0.0008,1KG_AFR_AF,ESPN
1347,1:6504823:G>A,NM_031475.2:c.1192+81G>A,\N,\N,6/12,Benign,\N,intron_variant,0.605,0.1536,1KG_AFR_AF,ESPN
1348,1:6504823:G>C,NM_031475.2:c.1192+81G>C,\N,\N,6/12,Benign,\N,intron_variant,0.106,0.3085,1KG_EAS_AF,ESPN
1349,1:6504865:T>C,NM_031475.2:c.1192+123T>C,\N,\N,6/12,Unknown significance,\N,intron_variant,3.174,0.001,1KG_SAS_AF,ESPN
1350,1:6504872:C>T,NM_031475.2:c.1192+130C>T,\N,\N,6/12,Unknown significance,\N,intron_variant,3.604,0.0008,1KG_AFR_AF,ESPN
1351,1:6504886:A>G,NM_031475.2:c.1192+144A>G,\N,\N,6/12,Unknown significance,\N,intron_variant,2.616,0.0023,1KG_AFR_AF,ESPN
1352,1:6504886:A>T,NM_031475.2:c.1192+144A>T,\N,\N,6/12,Unknown significance,\N,intron_variant,1.535,\N,\N,ESPN
1353,1:6504887:C>T,NM_031475.2:c.1192+145C>T,\N,\N,6/12,Unknown significance,\N,intron_variant,4.045,0.0008,1KG_AFR_AF,ESPN
1354,1:6504890:C>T,NM_031475.2:c.1192+148C>T,\N,\N,6/12,Unknown significance,\N,intron_variant,1.007,\N,\N,ESPN
1355,1:6504900:G>T,NM_031475.2:c.1192+158G>T,\N,\N,6/12,Unknown significance,\N,intron_variant,4.273,0,1KG_ALL_AF|1KG_AFR_AF|1KG_AMR_AF|1KG_EAS_AF|1KG_EUR_AF|1KG_SAS_AF,ESPN
1356,1:6504919:C>A,NM_031475.2:c.1192+177C>A,\N,\N,6/12,Unknown significance,\N,intron_variant,1.984,\N,\N,ESPN
1357,1:6504926:G>A,NM_031475.2:c.1192+184G>A,\N,\N,6/12,Unknown significance,\N,intron_variant,5.503,0.001,1KG_EAS_AF,ESPN
1358,1:6504955:A>G,NM_031475.2:c.1192+213A>G,\N,\N,6/12,Unknown significance,\N,intron_variant,5.576,0.0031,1KG_SAS_AF,ESPN
1359,1:6504968:C>G,NM_031475.2:c.1192+226C>G,\N,\N,6/12,Unknown significance,\N,intron_variant,2.179,0.0014,1KG_AMR_AF,ESPN
1360,1:6504984:C>T,NM_031475.2:c.1192+242C>T,\N,\N,6/12,Unknown significance,\N,intron_variant,2.785,0.001,1KG_EAS_AF,ESPN
1361,1:6504985:G>A,NM_031475.2:c.1192+243G>A,\N,\N,6/12,Unknown significance,\N,intron_variant,0.545,0.0014,1KG_AMR_AF,ESPN
1362,1:6504991:C>T,NM_031475.2:c.1192+249C>T,\N,\N,6/12,Unknown significance,\N,intron_variant,0.343,\N,\N,ESPN
1363,1:6504992:G>A,NM_031475.2:c.1192+250G>A,\N,\N,6/12,Unknown significance,\N,intron_variant,0.931,0.0014,1KG_AMR_AF,ESPN
1364,1:6505061:A>G,NM_031475.2:c.1192+319A>G,\N,\N,6/12,Benign,\N,intron_variant,2.391,0.006,1KG_EAS_AF,ESPN
1365,1:6505086:C>T,NM_031475.2:c.1192+344C>T,\N,\N,6/12,Unknown significance,\N,intron_variant,4.016,\N,\N,ESPN
1366,1:6505093:C>T,NM_031475.2:c.1192+351C>T,\N,\N,6/12,Unknown significance,\N,intron_variant,1.426,\N,\N,ESPN
1367,1:6505098:C>T,NM_031475.2:c.1192+356C>T,\N,\N,6/12,Unknown significance,\N,intron_variant,3.572,0.001,1KG_SAS_AF,ESPN
1368,1:6505102:C>A,NM_031475.2:c.1192+360C>A,\N,\N,6/12,Unknown significance,\N,intron_variant,3.831,0.001,1KG_EAS_AF,ESPN
1369,1:6505114:ACAAG>A,NM_031475.2:c.1192+379_1192+382del,\N,\N,6/12,Benign,\N,intron_variant,9.315,0.0121,1KG_AFR_AF,ESPN
1370,1:6505139:T>C,NM_031475.2:c.1192+397T>C,\N,\N,6/12,Unknown significance,\N,intron_variant,2.918,0.0015,1KG_AFR_AF,ESPN
1371,1:6505157:ACG>A,NM_031475.2:c.1192+417_1192+418del,\N,\N,6/12,Unknown significance,\N,intron_variant,11.17,\N,\N,ESPN
1372,1:6505158:C>T,NM_031475.2:c.1192+416C>T,\N,\N,6/12,Unknown significance,\N,intron_variant,11.17,0.0008,1KG_AFR_AF,ESPN
1373,1:6505159:G>A,NM_031475.2:c.1192+417G>A,\N,\N,6/12,Benign,\N,intron_variant,10.6,0.1892,1KG_SAS_AF,ESPN
1374,1:6505161:A>G,NM_031475.2:c.1192+419A>G,\N,\N,6/12,Unknown significance,\N,intron_variant,8.258,0.0014,1KG_AMR_AF,ESPN
1375,1:6505172:C>T,NM_031475.2:c.1192+430C>T,\N,\N,6/12,Unknown significance,\N,intron_variant,10.21,0.003,1KG_AFR_AF,ESPN
1376,1:6505174:T>C,NM_031475.2:c.1192+432T>C,\N,\N,6/12,Unknown significance,\N,intron_variant,7.826,0.002,1KG_EAS_AF,ESPN
1377,1:6505174:TAC>T,NM_031475.2:c.1192+437_1192+438del,\N,\N,6/12,Unknown significance,\N,intron_variant,11.83,\N,\N,ESPN
1378,1:6505176:C>T,NM_031475.2:c.1192+434C>T,\N,\N,6/12,Benign,\N,intron_variant,9.248,0.2504,1KG_AFR_AF,ESPN
1379,1:6505214:G>A,NM_031475.2:c.1192+472G>A,\N,\N,6/12,Unknown significance,\N,intron_variant,2.445,\N,\N,ESPN
1380,1:6505217:C>T,NM_031475.2:c.1192+475C>T,\N,\N,6/12,Unknown significance,\N,intron_variant,7.604,0.001,1KG_EAS_AF,ESPN
1381,1:6505233:C>A,NM_031475.2:c.1192+491C>A,\N,\N,6/12,Unknown significance,\N,intron_variant,7.081,0.0015,1KG_AFR_AF,ESPN
1382,1:6505233:C>T,NM_031475.2:c.1192+491C>T,\N,\N,6/12,Unknown significance,\N,intron_variant,5.964,\N,\N,ESPN
1383,1:6505267:C>T,NM_031475.2:c.1193-457C>T,\N,\N,6/12,Unknown significance,\N,intron_variant,5.622,\N,\N,ESPN
1384,1:6505268:G>A,NM_031475.2:c.1193-456G>A,\N,\N,6/12,Unknown significance,\N,intron_variant,2.561,\N,\N,ESPN
1385,1:6505277:G>A,NM_031475.2:c.1193-447G>A,\N,\N,6/12,Benign,\N,intron_variant,1.278,0.0215,1KG_SAS_AF,ESPN
1386,1:6505285:G>T,NM_031475.2:c.1193-439G>T,\N,\N,6/12,Unknown significance,\N,intron_variant,0.823,\N,\N,ESPN
1387,1:6505293:G>A,NM_031475.2:c.1193-431G>A,\N,\N,6/12,Unknown significance,\N,intron_variant,4.16,\N,\N,ESPN
1388,1:6505320:T>G,NM_031475.2:c.1193-404T>G,\N,\N,6/12,Unknown significance,\N,intron_variant,6.584,0.0023,1KG_AFR_AF,ESPN
1389,1:6505330:C>T,NM_031475.2:c.1193-394C>T,\N,\N,6/12,Unknown significance,\N,intron_variant,7.005,\N,\N,ESPN
1390,1:6505358:C>T,NM_031475.2:c.1193-366C>T,\N,\N,6/12,Benign,\N,intron_variant,4.792,0.005,1KG_EAS_AF,ESPN
1391,1:6505362:G>A,NM_031475.2:c.1193-362G>A,\N,\N,6/12,Unknown significance,\N,intron_variant,3.886,\N,\N,ESPN
1392,1:6505421:C>T,NM_031475.2:c.1193-303C>T,\N,\N,6/12,Unknown significance,\N,intron_variant,6.382,0.0029,1KG_AMR_AF,ESPN
1393,1:6505477:C>G,NM_031475.2:c.1193-247C>G,\N,\N,6/12,Unknown significance,\N,intron_variant,7.895,\N,\N,ESPN
1394,1:6505595:G>T,NM_031475.2:c.1193-129G>T,\N,\N,6/12,Unknown significance,\N,intron_variant,2.151,0.0008,1KG_AFR_AF,ESPN
1395,1:6505612:C>T,NM_031475.2:c.1193-112C>T,\N,\N,6/12,Unknown significance,\N,intron_variant,6.645,0.001,1KG_EAS_AF,ESPN
1396,1:6505658:G>A,NM_031475.2:c.1193-66G>A,\N,\N,6/12,Unknown significance,\N,intron_variant,1.666,0.001,1KG_EUR_AF,ESPN
1397,1:6505671:G>A,NM_031475.2:c.1193-53G>A,\N,\N,6/12,Benign,\N,intron_variant,6.113,0.1488,1KG_EAS_AF,ESPN
1398,1:6505675:C>A,NM_031475.2:c.1193-49C>A,\N,\N,6/12,Unknown significance,\N,intron_variant,6.987,0.001,1KG_EAS_AF,ESPN
1399,1:6505678:C>G,NM_031475.2:c.1193-46C>G,\N,\N,6/12,Unknown significance,\N,intron_variant,4.997,0.001,1KG_EAS_AF,ESPN
1400,1:6505678:C>T,NM_031475.2:c.1193-46C>T,\N,\N,6/12,Unknown significance,\N,intron_variant,6.746,0.00055371,EXAC_EAS_AF,ESPN
1401,1:6505683:C>G,NM_031475.2:c.1193-41C>G,\N,\N,6/12,Benign,\N,intron_variant,5.345,0.0179382,EVS_AA_AF,ESPN
1402,1:6505687:A>C,NM_031475.2:c.1193-37A>C,\N,\N,6/12,Unknown significance,\N,intron_variant,3.018,\N,\N,ESPN
1403,1:6505690:C>T,NM_031475.2:c.1193-34C>T,\N,\N,6/12,Unknown significance,\N,intron_variant,7.886,0.000207641,EXAC_AMR_AF,ESPN
1404,1:6505692:C>T,NM_031475.2:c.1193-32C>T,\N,\N,6/12,Unknown significance,\N,intron_variant,7.364,0.000038912,EXAC_NFE_AF,ESPN
1405,1:6505694:C>A,NM_031475.2:c.1193-30C>A,\N,\N,6/12,Unknown significance,\N,intron_variant,7.564,0.0000193446,EXAC_NFE_AF,ESPN
1406,1:6505694:C>T,NM_031475.2:c.1193-30C>T,\N,\N,6/12,Unknown significance,\N,intron_variant,6.742,0.0000193446,EXAC_NFE_AF,ESPN
1407,1:6505703:CCCTT>C,NM_031475.2:c.1193-15_1193-12del,\N,\N,6/12,Unknown significance,\N,intron_variant,7.15,0.0000374602,EXAC_NFE_AF,ESPN
1408,1:6505706:T>G,NM_031475.2:c.1193-18T>G,\N,\N,6/12,Unknown significance,\N,intron_variant,4.687,0.0000184169,EXAC_NFE_AF,ESPN
1409,1:6505707:T>C,NM_031475.2:c.1193-17T>C,\N,\N,6/12,Unknown significance,\N,intron_variant,0.853,0.0000183567,EXAC_NFE_AF,ESPN
1410,1:6505714:G>T,NM_031475.2:c.1193-10G>T,\N,\N,6/12,Unknown significance,\N,intron_variant,1.296,0.0000178482,EXAC_NFE_AF,ESPN
1411,1:6505721:C>T,NM_031475.2:c.1193-3C>T,\N,\N,6/12,Unknown significance,\N,splice_region_variant&intron_variant,10.24,0.0035461,EXAC_AFR_AF,ESPN
1412,1:6505725:G>A,NM_031475.2:c.1194G>A,NP_113663.2:p.Gly398=,7/13,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,6.434,0.000116279,EVS_EA_AF,ESPN
1413,1:6505729:T>C,NM_031475.2:c.1198T>C,NP_113663.2:p.Ser400Pro,7/13,\N,Likely benign,\N,missense_variant,1.55,0.0000168067,EXAC_NFE_AF,ESPN
1414,1:6505733:G>T,NM_031475.2:c.1202G>T,NP_113663.2:p.Ser401Ile,7/13,\N,Unknown significance,\N,missense_variant,9.952,\N,\N,ESPN
1415,1:6505734:C>A,NM_031475.2:c.1203C>A,NP_113663.2:p.Ser401Arg,7/13,\N,Likely benign,\N,missense_variant,18.34,0.0000166257,EXAC_NFE_AF,ESPN
1416,1:6505735:G>A,NM_031475.2:c.1204G>A,NP_113663.2:p.Ala402Thr,7/13,\N,Likely benign,\N,missense_variant,3.427,0.0000497628,EXAC_NFE_AF,ESPN
1417,1:6505743:T>G,NM_031475.2:c.1212T>G,NP_113663.2:p.Ala404=,7/13,\N,Unknown significance,\N,synonymous_variant,15.57,0.000275432,EXAC_AMR_AF,ESPN
1418,1:6505753:C>A,NM_031475.2:c.1222C>A,NP_113663.2:p.Gln408Lys,7/13,\N,Unknown significance,\N,missense_variant,31,0.0000163137,EXAC_NFE_AF,ESPN
1419,1:6505753:C>CA,NM_031475.2:c.1223dup,NP_113663.2:p.Ser409GlufsTer60,7/13,\N,Unknown significance,\N,frameshift_variant,35,0.0000913242,EXAC_AMR_AF,ESPN
1420,1:6505762:A>C,NM_031475.2:c.1231A>C,NP_113663.2:p.Met411Leu,7/13,\N,Unknown significance,\N,missense_variant,18.84,0.0000163217,EXAC_NFE_AF,ESPN
1421,1:6505763:T>C,NM_031475.2:c.1232T>C,NP_113663.2:p.Met411Thr,7/13,\N,Unknown significance,\N,missense_variant,23.3,0.00035868,EXAC_EAS_AF,ESPN
1422,1:6505775:A>C,NM_031475.2:c.1244A>C,NP_113663.2:p.Asn415Thr,7/13,\N,Benign,\N,missense_variant,22.4,0.005,OTO_TR_AF,ESPN
1423,1:6505777:C>T,NM_031475.2:c.1246C>T,NP_113663.2:p.Pro416Ser,7/13,\N,Unknown significance,\N,missense_variant,28,0.0008,1KG_AFR_AF,ESPN
1424,1:6505778:C>T,NM_031475.2:c.1247C>T,NP_113663.2:p.Pro416Leu,7/13,\N,Unknown significance,\N,missense_variant,29.8,0.0000920641,EXAC_AMR_AF,ESPN
1425,1:6505779:G>A,NM_031475.2:c.1248G>A,NP_113663.2:p.Pro416=,7/13,\N,Benign,\N,synonymous_variant,10.84,0.0068,1KG_AFR_AF,ESPN
1426,1:6505789:C>T,NM_031475.2:c.1258C>T,NP_113663.2:p.Leu420=,7/13,\N,Unknown significance,\N,synonymous_variant,10.97,0.0000931099,EXAC_AMR_AF,ESPN
1427,1:6505795:C>T,NM_031475.2:c.1264C>T,NP_113663.2:p.Arg422Trp,7/13,\N,Benign,\N,missense_variant,23.4,0.0091,1KG_AFR_AF,ESPN
1428,1:6505796:G>A,NM_031475.2:c.1265G>A,NP_113663.2:p.Arg422Gln,7/13,\N,Benign,\N,missense_variant,0.019,0.0347795,EXAC_AFR_AF,ESPN
1429,1:6505799:G>A,NM_031475.2:c.1268G>A,NP_113663.2:p.Gly423Asp,7/13,\N,Likely benign,\N,missense_variant,0.351,0.0000688326,EXAC_SAS_AF,ESPN
1430,1:6505802:C>T,NM_031475.2:c.1271C>T,NP_113663.2:p.Thr424Met,7/13,\N,Likely benign,\N,missense_variant,0.411,0.000116306,EVS_EA_AF,ESPN
1431,1:6505803:G>A,NM_031475.2:c.1272G>A,NP_113663.2:p.Thr424=,7/13,\N,Unknown significance,\N,synonymous_variant,9.307,0.00038501,EXAC_EAS_AF,ESPN
1432,1:6505803:G>C,NM_031475.2:c.1272G>C,NP_113663.2:p.Thr424=,7/13,\N,Unknown significance,\N,synonymous_variant,3.789,0.00181736,EVS_AA_AF,ESPN
1433,1:6505805:T>C,NM_031475.2:c.1274T>C,NP_113663.2:p.Ile425Thr,7/13,\N,Likely benign,\N,missense_variant,0.001,0.002,1KG_EAS_AF,ESPN
1434,1:6505806:T>G,NM_031475.2:c.1275T>G,NP_113663.2:p.Ile425Met,7/13,\N,Likely benign,\N,missense_variant,0.003,0.0000977899,EXAC_AMR_AF,ESPN
1435,1:6505813:C>A,NM_031475.2:c.1282C>A,NP_113663.2:p.Pro428Thr,7/13,\N,Likely benign,\N,missense_variant,1.693,0.0000220536,EXAC_NFE_AF,ESPN
1436,1:6505817:C>T,NM_031475.2:c.1286C>T,NP_113663.2:p.Thr429Ile,7/13,\N,Benign,\N,missense_variant,7.423,0.0326087,EXAC_FIN_AF,ESPN
1437,1:6505818:A>C,NM_031475.2:c.1287A>C,NP_113663.2:p.Thr429=,7/13,\N,Unknown significance,\N,synonymous_variant,0.002,0.0025,OTO_JP_AF,ESPN
1438,1:6505819:C>A,NM_031475.2:c.1288C>A,NP_113663.2:p.Pro430Thr,7/13,\N,Likely benign,\N,missense_variant,4.74,0.0000425931,EXAC_NFE_AF,ESPN
1439,1:6505821:C>T,NM_031475.2:c.1290C>T,NP_113663.2:p.Pro430=,7/13,\N,Unknown significance,\N,synonymous_variant,10.56,0.0000425713,EXAC_NFE_AF,ESPN
1440,1:6505823:CACCA>C,NM_031475.2:c.1293_1296del,NP_113663.2:p.Pro433HisfsTer29,7/13,\N,Unknown significance,\N,frameshift_variant,31,\N,\N,ESPN
1441,1:6505824:A>C,NM_031475.2:c.1293A>C,NP_113663.2:p.Pro431=,7/13,\N,Unknown significance,\N,synonymous_variant,5.877,\N,\N,ESPN
1442,1:6505824:A>G,NM_031475.2:c.1293A>G,NP_113663.2:p.Pro431=,7/13,\N,Unknown significance,\N,synonymous_variant,11.12,0.001,1KG_EUR_AF,ESPN
1443,1:6505827:A>C,NM_031475.2:c.1296A>C,NP_113663.2:p.Pro432=,7/13,\N,Unknown significance,\N,synonymous_variant,5.584,\N,\N,ESPN
1444,1:6505828:C>A,NM_031475.2:c.1297C>A,NP_113663.2:p.Pro433Thr,7/13,\N,Unknown significance,\N,missense_variant,26.2,0.000605327,EXAC_AMR_AF,ESPN
1445,1:6505830:C>A,NM_031475.2:c.1299C>A,NP_113663.2:p.Pro433=,7/13,\N,Unknown significance,\N,synonymous_variant,13.24,0.000417362,EXAC_AMR_AF,ESPN
1446,1:6505830:C>T,NM_031475.2:c.1299C>T,NP_113663.2:p.Pro433=,7/13,\N,Unknown significance,\N,synonymous_variant,12.09,0.000116659,EXAC_SAS_AF,ESPN
1447,1:6505832:CACCCAGCTT>C,NM_031475.2:c.1302_1310del,NP_113663.2:p.Ser436_Pro438del,7/13,\N,Unknown significance,\N,inframe_deletion,17.65,\N,\N,ESPN
1448,1:6505833:A>C,NM_031475.2:c.1302A>C,NP_113663.2:p.Pro434=,7/13,\N,Unknown significance,\N,synonymous_variant,7.287,\N,\N,ESPN
1449,1:6505836:CAGCTT>C,NM_031475.2:c.1306_1310del,NP_113663.2:p.Ser436ProfsTer31,7/13,\N,Unknown significance,\N,frameshift_variant,29.7,\N,\N,ESPN
1450,1:6505843:C>G,NM_031475.2:c.1312C>G,NP_113663.2:p.Pro438Ala,7/13,\N,Unknown significance,\N,missense_variant,23.5,\N,\N,ESPN
1451,1:6505847:CG>C,NM_031475.2:c.1317del,NP_113663.2:p.Pro440HisfsTer23,7/13,\N,Unknown significance,\N,frameshift_variant,19.13,\N,\N,ESPN
1452,1:6505848:G>A,NM_031475.2:c.1317G>A,NP_113663.2:p.Pro439=,7/13,\N,Unknown significance,\N,synonymous_variant,7.644,\N,\N,ESPN
1453,1:6505848:G>C,NM_031475.2:c.1317G>C,NP_113663.2:p.Pro439=,7/13,\N,Unknown significance,\N,synonymous_variant,3.853,\N,\N,ESPN
1454,1:6505850:CA>C,NM_031475.2:c.1320del,NP_113663.2:p.Pro442ArgfsTer21,7/13,\N,Unknown significance,\N,frameshift_variant,22.9,\N,\N,ESPN
1455,1:6505851:AC>A,NM_031475.2:c.1325del,NP_113663.2:p.Pro442ArgfsTer21,7/13,\N,Unknown significance,\N,frameshift_variant,\N,\N,\N,ESPN
1456,1:6505851:ACCCCCGCCC>A,NM_031475.2:c.1323_1331del,NP_113663.2:p.Pro442_Pro444del,7/13,\N,Unknown significance,\N,inframe_deletion,10.92,\N,\N,ESPN
1457,1:6505856:C>T,NM_031475.2:c.1325C>T,NP_113663.2:p.Pro442Leu,7/13,\N,Unknown significance,\N,missense_variant,22.4,\N,\N,ESPN
1458,1:6505856:CG>C,NM_031475.2:c.1326del,NP_113663.2:p.Pro444GlnfsTer19,7/13,\N,Unknown significance,\N,frameshift_variant,10.09,\N,\N,ESPN
1459,1:6505857:G>A,NM_031475.2:c.1326G>A,NP_113663.2:p.Pro442=,7/13,\N,Unknown significance,\N,synonymous_variant,1.973,\N,\N,ESPN
1460,1:6505857:G>C,NM_031475.2:c.1326G>C,NP_113663.2:p.Pro442=,7/13,\N,Unknown significance,\N,synonymous_variant,0.254,\N,\N,ESPN
1461,1:6505862:CAGGCA>C,NM_031475.2:c.1332_1336del,NP_113663.2:p.Gly445ProfsTer22,7/13,\N,Unknown significance,\N,frameshift_variant,26.3,\N,\N,ESPN
1462,1:6505870:CAACTG>C,NM_031475.2:c.1340_1344del,NP_113663.2:p.Gln447ProfsTer20,7/13,\N,Unknown significance,\N,frameshift_variant,28,0.000167485,EXAC_NFE_AF,ESPN
1463,1:6505891:G>A,NM_031475.2:c.1360G>A,NP_113663.2:p.Gly454Ser,7/13,\N,Likely benign,\N,missense_variant,13.4,0.000369754,EXAC_AMR_AF,ESPN
1464,1:6505900:G>C,NM_031475.2:c.1369G>C,NP_113663.2:p.Ala457Pro,7/13,\N,Unknown significance,\N,missense_variant,23.2,0.0000161713,EXAC_NFE_AF,ESPN
1465,1:6505900:G>T,NM_031475.2:c.1369G>T,NP_113663.2:p.Ala457Ser,7/13,\N,Unknown significance,\N,missense_variant,16,0.000265018,EXAC_AMR_AF,ESPN
1466,1:6505906:A>G,NM_031475.2:c.1375A>G,NP_113663.2:p.Lys459Glu,7/13,\N,Likely benign,\N,missense_variant,15.41,0.000117897,EXAC_EAS_AF,ESPN
1467,1:6505908:GCCT>G,NM_031475.2:c.1381_1383del,NP_113663.2:p.Pro461del,7/13,\N,Unknown significance,\N,inframe_deletion,13.43,0.0000616903,EXAC_SAS_AF,ESPN
1468,1:6505908:G>A,NM_031475.2:c.1377G>A,NP_113663.2:p.Lys459=,7/13,\N,Unknown significance,\N,synonymous_variant,5.525,0.00118203,EXAC_OTH_AF,ESPN
1469,1:6505917:A>G,NM_031475.2:c.1386A>G,NP_113663.2:p.Val462=,7/13,\N,Benign,\N,synonymous_variant,0.278,0.00693655,EXAC_AFR_AF,ESPN
1470,1:6505922:C>T,NM_031475.2:c.1391C>T,NP_113663.2:p.Pro464Leu,7/13,\N,Likely benign,\N,missense_variant,0.042,0.000184298,EXAC_SAS_AF,ESPN
1471,1:6505923:A>C,NM_031475.2:c.1392A>C,NP_113663.2:p.Pro464=,7/13,\N,Unknown significance,\N,synonymous_variant,0.003,0.0000157903,EXAC_NFE_AF,ESPN
1472,1:6505934:A>G,NM_031475.2:c.1403A>G,NP_113663.2:p.Asp468Gly,7/13,\N,Unknown significance,\N,missense_variant,23.4,0.003125,OTO_US_AF,ESPN
1473,1:6505941:C>T,NM_031475.2:c.1410C>T,NP_113663.2:p.Tyr470=,7/13,\N,Unknown significance,\N,synonymous_variant,8.752,0.000122865,EXAC_SAS_AF,ESPN
1474,1:6505942:A>T,NM_031475.2:c.1411A>T,NP_113663.2:p.Met471Leu,7/13,\N,Likely benign,\N,missense_variant,2.285,\N,\N,ESPN
1475,1:6505943:T>A,NM_031475.2:c.1412T>A,NP_113663.2:p.Met471Lys,7/13,\N,Unknown significance,\N,missense_variant,23.4,0.00003141,EXAC_NFE_AF,ESPN
1476,1:6505946:A>G,NM_031475.2:c.1415A>G,NP_113663.2:p.Gln472Arg,7/13,\N,Unknown significance,\N,missense_variant,22.9,\N,\N,ESPN
1477,1:6505949:C>T,NM_031475.2:c.1418C>T,NP_113663.2:p.Thr473Ile,7/13,\N,Unknown significance,\N,missense_variant,27.8,\N,\N,ESPN
1478,1:6505951:A>G,NM_031475.2:c.1420A>G,NP_113663.2:p.Lys474Glu,7/13,\N,Unknown significance,\N,missense_variant,27.5,\N,\N,ESPN
1479,1:6505957:A>C,NM_031475.2:c.1426A>C,NP_113663.2:p.Lys476Gln,7/13,\N,Unknown significance,\N,missense_variant,25.5,0.00230947,EXAC_OTH_AF,ESPN
1480,1:6505959:A>C,NM_031475.2:c.1428A>C,NP_113663.2:p.Lys476Asn,7/13,\N,Likely benign,\N,missense_variant,21.9,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,ESPN
1481,1:6505960:C>G,NM_031475.2:c.1429C>G,NP_113663.2:p.Leu477Val,7/13,\N,Unknown significance,\N,missense_variant,25.9,0.0000615764,EXAC_SAS_AF,ESPN
1482,1:6505963:C>T,NM_031475.2:c.1432C>T,NP_113663.2:p.Arg478Cys,7/13,\N,Unknown significance,\N,missense_variant,34,0.000250988,EXAC_NFE_AF,ESPN
1483,1:6505964:G>A,NM_031475.2:c.1433G>A,NP_113663.2:p.Arg478His,7/13,\N,Unknown significance,\N,missense_variant,33,0.0000616067,EXAC_SAS_AF,ESPN
1484,1:6505966:C>T,NM_031475.2:c.1435C>T,NP_113663.2:p.His479Tyr,7/13,\N,Unknown significance,\N,missense_variant,25.8,0.001,1KG_SAS_AF,ESPN
1485,1:6505968:C>T,NM_031475.2:c.1437C>T,NP_113663.2:p.His479=,7/13,\N,Unknown significance,\N,synonymous_variant,11.34,0.0025,OTO_AJ_AF,ESPN
1486,1:6505981:G>A,NM_031475.2:c.1450G>A,NP_113663.2:p.Ala484Thr,7/13,\N,Likely benign,\N,missense_variant,2.582,0.0000470736,EXAC_NFE_AF,ESPN
1487,1:6505986:CAAG>C,NM_031475.2:c.1459_1461del,NP_113663.2:p.Lys487del,7/13,\N,Unknown significance,\N,inframe_deletion,18.04,0.0000617665,EXAC_SAS_AF,ESPN
1488,1:6505996:G>A,NM_031475.2:c.1464+1G>A,\N,\N,7/12,Unknown significance,\N,splice_donor_variant,25.1,0.0000618659,EXAC_SAS_AF,ESPN
1489,1:6505997:T>A,NM_031475.2:c.1464+2T>A,\N,\N,7/12,Unknown significance,\N,splice_donor_variant,24.6,0.000117316,EXAC_EAS_AF,ESPN
1490,1:6505997:T>G,NM_031475.2:c.1464+2T>G,\N,\N,7/12,Unknown significance,\N,splice_donor_variant,24.4,0.0000157144,EXAC_NFE_AF,ESPN
1491,1:6505999:G>A,NM_031475.2:c.1464+4G>A,\N,\N,7/12,Unknown significance,\N,splice_region_variant&intron_variant,11.59,0.0000314288,EXAC_NFE_AF,ESPN
1492,1:6506003:G>A,NM_031475.2:c.1464+8G>A,\N,\N,7/12,Unknown significance,\N,splice_region_variant&intron_variant,5.249,0.0000157208,EXAC_NFE_AF,ESPN
1493,1:6506004:C>T,NM_031475.2:c.1464+9C>T,\N,\N,7/12,Unknown significance,\N,intron_variant,5.346,0.0000157451,EXAC_NFE_AF,ESPN
1494,1:6506006:C>T,NM_031475.2:c.1464+11C>T,\N,\N,7/12,Unknown significance,\N,intron_variant,7.946,0.0000157431,EXAC_NFE_AF,ESPN
1495,1:6506007:T>C,NM_031475.2:c.1464+12T>C,\N,\N,7/12,Unknown significance,\N,intron_variant,2.191,0.0000157465,EXAC_NFE_AF,ESPN
1496,1:6506009:AC>A,NM_031475.2:c.1464+19del,\N,\N,7/12,Benign,\N,intron_variant,2.063,0.0446,1KG_AFR_AF,ESPN
1497,1:6506010:C>A,NM_031475.2:c.1464+15C>A,\N,\N,7/12,Unknown significance,\N,intron_variant,6.684,0.000244141,EXAC_AFR_AF,ESPN
1498,1:6506011:C>A,NM_031475.2:c.1464+16C>A,\N,\N,7/12,Benign,\N,intron_variant,10.85,0.0446,1KG_AFR_AF,ESPN
1499,1:6506013:C>A,NM_031475.2:c.1464+18C>A,\N,\N,7/12,Benign,\N,intron_variant,11.84,0.0142531,EXAC_AFR_AF,ESPN
1500,1:6506013:C>G,NM_031475.2:c.1464+18C>G,\N,\N,7/12,Unknown significance,\N,intron_variant,10.18,0.0000632791,EXAC_NFE_AF,ESPN
1501,1:6506013:C>T,NM_031475.2:c.1464+18C>T,\N,\N,7/12,Unknown significance,\N,intron_variant,11.61,0.00022805,EXAC_AFR_AF,ESPN
1502,1:6506022:C>T,NM_031475.2:c.1464+27C>T,\N,\N,7/12,Unknown significance,\N,intron_variant,8.333,0.00115741,EXAC_OTH_AF,ESPN
1503,1:6506027:A>C,NM_031475.2:c.1464+32A>C,\N,\N,7/12,Unknown significance,\N,intron_variant,1.56,0.0000625469,EXAC_SAS_AF,ESPN
1504,1:6506030:A>G,NM_031475.2:c.1464+35A>G,\N,\N,7/12,Unknown significance,\N,intron_variant,4.243,\N,\N,ESPN
1505,1:6506030:AG>A,NM_031475.2:c.1464+40del,\N,\N,7/12,Unknown significance,\N,intron_variant,2.398,\N,\N,ESPN
1506,1:6506031:G>C,NM_031475.2:c.1464+36G>C,\N,\N,7/12,Unknown significance,\N,intron_variant,2.157,0.00024558,EVS_AA_AF,ESPN
1507,1:6506035:G>T,NM_031475.2:c.1464+40G>T,\N,\N,7/12,Unknown significance,\N,intron_variant,1.448,0.0031,1KG_SAS_AF,ESPN
1508,1:6506039:G>A,NM_031475.2:c.1464+44G>A,\N,\N,7/12,Unknown significance,\N,intron_variant,1.028,0.00011976,EVS_EA_AF,ESPN
1509,1:6506044:G>C,NM_031475.2:c.1464+49G>C,\N,\N,7/12,Unknown significance,\N,intron_variant,0.176,\N,\N,ESPN
1510,1:6506046:TGGG>T,NM_031475.2:c.1464+54_1464+56del,\N,\N,7/12,Unknown significance,\N,intron_variant,6.232,0.000117481,EXAC_EAS_AF,ESPN
1511,1:6506046:T>G,NM_031475.2:c.1464+51T>G,\N,\N,7/12,Unknown significance,\N,intron_variant,5.953,0.0000318664,EXAC_NFE_AF,ESPN
1512,1:6506057:G>C,NM_031475.2:c.1464+62G>C,\N,\N,7/12,Unknown significance,\N,intron_variant,2.644,\N,\N,ESPN
1513,1:6506073:C>A,NM_031475.2:c.1464+78C>A,\N,\N,7/12,Unknown significance,\N,intron_variant,7.894,0.001,1KG_SAS_AF,ESPN
1514,1:6506080:A>G,NM_031475.2:c.1464+85A>G,\N,\N,7/12,Unknown significance,\N,intron_variant,1.497,0.001,1KG_SAS_AF,ESPN
1515,1:6506088:T>C,NM_031475.2:c.1464+93T>C,\N,\N,7/12,Unknown significance,\N,intron_variant,4.028,0.001,1KG_SAS_AF,ESPN
1516,1:6506110:A>G,NM_031475.2:c.1464+115A>G,\N,\N,7/12,Benign,\N,intron_variant,6.591,0.0348,1KG_SAS_AF,ESPN
1517,1:6506127:C>G,NM_031475.2:c.1464+132C>G,\N,\N,7/12,Unknown significance,\N,intron_variant,6.574,0.0008,1KG_AFR_AF,ESPN
1518,1:6506160:G>T,NM_031475.2:c.1464+165G>T,\N,\N,7/12,Benign,\N,intron_variant,6.905,0.0318,1KG_AFR_AF,ESPN
1519,1:6506198:T>C,NM_031475.2:c.1464+203T>C,\N,\N,7/12,Unknown significance,\N,intron_variant,1.091,\N,\N,ESPN
1520,1:6506208:T>C,NM_031475.2:c.1464+213T>C,\N,\N,7/12,Unknown significance,\N,intron_variant,4.296,0.0023,1KG_AFR_AF,ESPN
1521,1:6506231:C>G,NM_031475.2:c.1464+236C>G,\N,\N,7/12,Unknown significance,\N,intron_variant,1.824,\N,\N,ESPN
1522,1:6506235:TC>T,NM_031475.2:c.1464+242del,\N,\N,7/12,Unknown significance,\N,intron_variant,\N,\N,\N,ESPN
1523,1:6506244:C>T,NM_031475.2:c.1464+249C>T,\N,\N,7/12,Benign,\N,intron_variant,14.51,0.0295,1KG_AFR_AF,ESPN
1524,1:6506248:G>T,NM_031475.2:c.1464+253G>T,\N,\N,7/12,Unknown significance,\N,intron_variant,15.1,\N,\N,ESPN
1525,1:6506299:G>T,NM_031475.2:c.1464+304G>T,\N,\N,7/12,Benign,\N,intron_variant,2.011,0.0318,1KG_EUR_AF,ESPN
1526,1:6506303:T>C,NM_031475.2:c.1464+308T>C,\N,\N,7/12,Benign,\N,intron_variant,1.437,0.0106,1KG_AFR_AF,ESPN
1527,1:6506315:A>G,NM_031475.2:c.1464+320A>G,\N,\N,7/12,Unknown significance,\N,intron_variant,2.157,\N,\N,ESPN
1528,1:6506384:G>A,NM_031475.2:c.1464+389G>A,\N,\N,7/12,Benign,\N,intron_variant,2.726,0.0378,1KG_AFR_AF,ESPN
1529,1:6506466:G>A,NM_031475.2:c.1464+471G>A,\N,\N,7/12,Unknown significance,\N,intron_variant,3.733,\N,\N,ESPN
1530,1:6506472:G>A,NM_031475.2:c.1464+477G>A,\N,\N,7/12,Unknown significance,\N,intron_variant,3.923,0.001,1KG_SAS_AF,ESPN
1531,1:6506482:T>G,NM_031475.2:c.1464+487T>G,\N,\N,7/12,Unknown significance,\N,intron_variant,5.98,\N,\N,ESPN
1532,1:6506491:T>A,NM_031475.2:c.1464+496T>A,\N,\N,7/12,Unknown significance,\N,intron_variant,5.295,\N,\N,ESPN
1533,1:6506495:T>A,NM_031475.2:c.1464+500T>A,\N,\N,7/12,Unknown significance,\N,intron_variant,7.291,\N,\N,ESPN
1534,1:6506542:G>A,NM_031475.2:c.1464+547G>A,\N,\N,7/12,Unknown significance,\N,intron_variant,1.714,0.0043,1KG_AMR_AF,ESPN
1535,1:6506571:C>T,NM_031475.2:c.1464+576C>T,\N,\N,7/12,Unknown significance,\N,intron_variant,6.331,0.001,1KG_SAS_AF,ESPN
1536,1:6506582:C>T,NM_031475.2:c.1464+587C>T,\N,\N,7/12,Benign,\N,intron_variant,3.233,0.1112,1KG_AFR_AF,ESPN
1537,1:6506583:G>A,NM_031475.2:c.1464+588G>A,\N,\N,7/12,Unknown significance,\N,intron_variant,3.963,\N,\N,ESPN
1538,1:6506604:G>A,NM_031475.2:c.1464+609G>A,\N,\N,7/12,Unknown significance,\N,intron_variant,5.481,0.002,1KG_EAS_AF,ESPN
1539,1:6506611:G>T,NM_031475.2:c.1464+616G>T,\N,\N,7/12,Benign,\N,intron_variant,4.003,0.0325,1KG_AFR_AF,ESPN
1540,1:6506630:G>A,NM_031475.2:c.1464+635G>A,\N,\N,7/12,Unknown significance,\N,intron_variant,5.863,0.001,1KG_EAS_AF,ESPN
1541,1:6506696:G>T,NM_031475.2:c.1464+701G>T,\N,\N,7/12,Unknown significance,\N,intron_variant,5.469,0.0014,1KG_AMR_AF,ESPN
1542,1:6506715:C>T,NM_031475.2:c.1464+720C>T,\N,\N,7/12,Benign,\N,intron_variant,3.162,0.0082,1KG_SAS_AF,ESPN
1543,1:6506716:G>A,NM_031475.2:c.1464+721G>A,\N,\N,7/12,Benign,\N,intron_variant,5.139,0.0079,1KG_EAS_AF,ESPN
1544,1:6506740:G>A,NM_031475.2:c.1464+745G>A,\N,\N,7/12,Unknown significance,\N,intron_variant,4.082,\N,\N,ESPN
1545,1:6506742:G>A,NM_031475.2:c.1464+747G>A,\N,\N,7/12,Unknown significance,\N,intron_variant,3.798,0.003,1KG_AFR_AF,ESPN
1546,1:6506743:A>T,NM_031475.2:c.1464+748A>T,\N,\N,7/12,Unknown significance,\N,intron_variant,4.166,0.003,1KG_AFR_AF,ESPN
1547,1:6506752:G>A,NM_031475.2:c.1464+757G>A,\N,\N,7/12,Unknown significance,\N,intron_variant,0.881,0.001,1KG_EAS_AF,ESPN
1548,1:6506762:T>C,NM_031475.2:c.1464+767T>C,\N,\N,7/12,Unknown significance,\N,intron_variant,2.142,\N,\N,ESPN
1549,1:6506809:T>C,NM_031475.2:c.1464+814T>C,\N,\N,7/12,Unknown significance,\N,intron_variant,7.709,\N,\N,ESPN
1550,1:6506824:T>A,NM_031475.2:c.1464+829T>A,\N,\N,7/12,Unknown significance,\N,intron_variant,11.04,0.003,1KG_AFR_AF,ESPN
1551,1:6506838:C>T,NM_031475.2:c.1464+843C>T,\N,\N,7/12,Unknown significance,\N,intron_variant,4.005,\N,\N,ESPN
1552,1:6506862:G>A,NM_031475.2:c.1464+867G>A,\N,\N,7/12,Unknown significance,\N,intron_variant,5.019,\N,\N,ESPN
1553,1:6506862:G>C,NM_031475.2:c.1464+867G>C,\N,\N,7/12,Benign,\N,intron_variant,1.501,0.034,1KG_AFR_AF,ESPN
1554,1:6506943:G>C,NM_031475.2:c.1464+948G>C,\N,\N,7/12,Benign,\N,intron_variant,12.23,0.6952,1KG_AFR_AF,ESPN
1555,1:6506966:C>T,NM_031475.2:c.1464+971C>T,\N,\N,7/12,Unknown significance,\N,intron_variant,7.494,\N,\N,ESPN
1556,1:6506968:G>A,NM_031475.2:c.1464+973G>A,\N,\N,7/12,Unknown significance,\N,intron_variant,1.083,\N,\N,ESPN
1557,1:6506997:C>A,NM_031475.2:c.1464+1002C>A,\N,\N,7/12,Unknown significance,\N,intron_variant,8.436,0.0008,1KG_AFR_AF,ESPN
1558,1:6506998:T>C,NM_031475.2:c.1464+1003T>C,\N,\N,7/12,Unknown significance,\N,intron_variant,2.326,\N,\N,ESPN
1559,1:6507018:A>T,NM_031475.2:c.1464+1023A>T,\N,\N,7/12,Unknown significance,\N,intron_variant,8.28,\N,\N,ESPN
1560,1:6507019:A>G,NM_031475.2:c.1464+1024A>G,\N,\N,7/12,Benign,\N,intron_variant,8.95,0.1278,1KG_AFR_AF,ESPN
1561,1:6507063:G>T,NM_031475.2:c.1464+1068G>T,\N,\N,7/12,Benign,\N,intron_variant,4.164,0.005,1KG_EUR_AF,ESPN
1562,1:6507075:G>C,NM_031475.2:c.1464+1080G>C,\N,\N,7/12,Benign,\N,intron_variant,3.518,0.005,1KG_EUR_AF,ESPN
1563,1:6507089:G>A,NM_031475.2:c.1464+1094G>A,\N,\N,7/12,Benign,\N,intron_variant,7.136,0.0144,1KG_AFR_AF,ESPN
1564,1:6507098:T>C,NM_031475.2:c.1464+1103T>C,\N,\N,7/12,Unknown significance,\N,intron_variant,4.058,0.0008,1KG_AFR_AF,ESPN
1565,1:6507177:T>A,NM_031475.2:c.1464+1182T>A,\N,\N,7/12,Unknown significance,\N,intron_variant,7.762,\N,\N,ESPN
1566,1:6507181:C>T,NM_031475.2:c.1464+1186C>T,\N,\N,7/12,Unknown significance,\N,intron_variant,9.195,0.0015,1KG_AFR_AF,ESPN
1567,1:6507182:C>A,NM_031475.2:c.1464+1187C>A,\N,\N,7/12,Unknown significance,\N,intron_variant,8.72,\N,\N,ESPN
1568,1:6507220:T>C,NM_031475.2:c.1464+1225T>C,\N,\N,7/12,Unknown significance,\N,intron_variant,3.046,\N,\N,ESPN
1569,1:6507224:T>TG,NM_031475.2:c.1464+1229_1464+1230insG,\N,\N,7/12,Unknown significance,\N,intron_variant,\N,\N,\N,ESPN
1570,1:6507225:C>G,NM_031475.2:c.1464+1230C>G,\N,\N,7/12,Benign,\N,intron_variant,7.758,0.3782,1KG_AFR_AF,ESPN
1571,1:6507227:G>C,NM_031475.2:c.1464+1232G>C,\N,\N,7/12,Benign,\N,intron_variant,4.358,0.7088,1KG_AFR_AF,ESPN
1572,1:6507237:C>T,NM_031475.2:c.1464+1242C>T,\N,\N,7/12,Unknown significance,\N,intron_variant,9.99,\N,\N,ESPN
1573,1:6507238:G>T,NM_031475.2:c.1464+1243G>T,\N,\N,7/12,Unknown significance,\N,intron_variant,4.487,0.003,1KG_AFR_AF,ESPN
1574,1:6507249:C>T,NM_031475.2:c.1464+1254C>T,\N,\N,7/12,Benign,\N,intron_variant,8.258,0.0174,1KG_SAS_AF,ESPN
1575,1:6507256:C>T,NM_031475.2:c.1464+1261C>T,\N,\N,7/12,Unknown significance,\N,intron_variant,5.462,\N,\N,ESPN
1576,1:6507258:C>T,NM_031475.2:c.1464+1263C>T,\N,\N,7/12,Unknown significance,\N,intron_variant,7.762,\N,\N,ESPN
1577,1:6507266:C>G,NM_031475.2:c.1464+1271C>G,\N,\N,7/12,Unknown significance,\N,intron_variant,4.378,\N,\N,ESPN
1578,1:6507267:A>G,NM_031475.2:c.1464+1272A>G,\N,\N,7/12,Unknown significance,\N,intron_variant,4.042,\N,\N,ESPN
1579,1:6507275:C>T,NM_031475.2:c.1464+1280C>T,\N,\N,7/12,Unknown significance,\N,intron_variant,10.78,\N,\N,ESPN
1580,1:6507289:A>G,NM_031475.2:c.1464+1294A>G,\N,\N,7/12,Unknown significance,\N,intron_variant,8.061,\N,\N,ESPN
1581,1:6507294:C>T,NM_031475.2:c.1464+1299C>T,\N,\N,7/12,Unknown significance,\N,intron_variant,10.5,\N,\N,ESPN
1582,1:6507299:A>C,NM_031475.2:c.1464+1304A>C,\N,\N,7/12,Unknown significance,\N,intron_variant,5.647,\N,\N,ESPN
1583,1:6507302:T>C,NM_031475.2:c.1464+1307T>C,\N,\N,7/12,Unknown significance,\N,intron_variant,1.284,\N,\N,ESPN
1584,1:6507307:C>T,NM_031475.2:c.1464+1312C>T,\N,\N,7/12,Unknown significance,\N,intron_variant,11.32,\N,\N,ESPN
1585,1:6507328:G>A,NM_031475.2:c.1464+1333G>A,\N,\N,7/12,Unknown significance,\N,intron_variant,9.715,\N,\N,ESPN
1586,1:6507330:G>A,NM_031475.2:c.1464+1335G>A,\N,\N,7/12,Unknown significance,\N,intron_variant,2.695,\N,\N,ESPN
1587,1:6507339:G>C,NM_031475.2:c.1464+1344G>C,\N,\N,7/12,Unknown significance,\N,intron_variant,7.382,\N,\N,ESPN
1588,1:6507343:C>A,NM_031475.2:c.1464+1348C>A,\N,\N,7/12,Benign,\N,intron_variant,9.168,0.0386,1KG_AFR_AF,ESPN
1589,1:6507349:C>A,NM_031475.2:c.1465-1352C>A,\N,\N,7/12,Unknown significance,\N,intron_variant,10.23,\N,\N,ESPN
1590,1:6507354:C>T,NM_031475.2:c.1465-1347C>T,\N,\N,7/12,Unknown significance,\N,intron_variant,11.14,\N,\N,ESPN
1591,1:6507379:G>A,NM_031475.2:c.1465-1322G>A,\N,\N,7/12,Unknown significance,\N,intron_variant,10.3,0.001,1KG_EUR_AF,ESPN
1592,1:6507388:C>T,NM_031475.2:c.1465-1313C>T,\N,\N,7/12,Unknown significance,\N,intron_variant,11.88,\N,\N,ESPN
1593,1:6507401:GACCGGGGGCGGGAGCAGGGTCGTGGCGTCCGA>G,NM_031475.2:c.1465-1296_1465-1265del,\N,\N,7/12,Unknown significance,\N,intron_variant,\N,0.003,1KG_EAS_AF,ESPN
1594,1:6507404:C>G,NM_031475.2:c.1465-1297C>G,\N,\N,7/12,Unknown significance,\N,intron_variant,11.29,\N,\N,ESPN
1595,1:6507423:G>T,NM_031475.2:c.1465-1278G>T,\N,\N,7/12,Unknown significance,\N,intron_variant,9.607,\N,\N,ESPN
1596,1:6507431:C>G,NM_031475.2:c.1465-1270C>G,\N,\N,7/12,Unknown significance,\N,intron_variant,8.438,0.001,1KG_EUR_AF,ESPN
1597,1:6507432:G>A,NM_031475.2:c.1465-1269G>A,\N,\N,7/12,Unknown significance,\N,intron_variant,8.945,\N,\N,ESPN
1598,1:6507441:G>A,NM_031475.2:c.1465-1260G>A,\N,\N,7/12,Unknown significance,\N,intron_variant,10.71,\N,\N,ESPN
1599,1:6507453:C>T,NM_031475.2:c.1465-1248C>T,\N,\N,7/12,Unknown significance,\N,intron_variant,19.41,0.0015,1KG_AFR_AF,ESPN
1600,1:6507461:G>C,NM_031475.2:c.1465-1240G>C,\N,\N,7/12,Unknown significance,\N,intron_variant,17.28,\N,\N,ESPN
1601,1:6507482:A>G,NM_031475.2:c.1465-1219A>G,\N,\N,7/12,Unknown significance,\N,intron_variant,14.45,\N,\N,ESPN
1602,1:6507486:C>G,NM_031475.2:c.1465-1215C>G,\N,\N,7/12,Unknown significance,\N,intron_variant,17.37,\N,\N,ESPN
1603,1:6507499:A>G,NM_031475.2:c.1465-1202A>G,\N,\N,7/12,Unknown significance,\N,intron_variant,16.09,\N,\N,ESPN
1604,1:6507511:G>A,NM_031475.2:c.1465-1190G>A,\N,\N,7/12,Benign,\N,intron_variant,18.66,0.0431,1KG_AFR_AF,ESPN
1605,1:6507531:T>C,NM_031475.2:c.1465-1170T>C,\N,\N,7/12,Unknown significance,\N,intron_variant,9.112,\N,\N,ESPN
1606,1:6507581:A>G,NM_031475.2:c.1465-1120A>G,\N,\N,7/12,Unknown significance,\N,intron_variant,5.05,\N,\N,ESPN
1607,1:6507606:G>A,NM_031475.2:c.1465-1095G>A,\N,\N,7/12,Unknown significance,\N,intron_variant,6.423,\N,\N,ESPN
1608,1:6507655:G>C,NM_031475.2:c.1465-1046G>C,\N,\N,7/12,Unknown significance,\N,intron_variant,4.957,0.0014,1KG_AMR_AF,ESPN
1609,1:6507706:C>CT,NM_031475.2:c.1465-995_1465-994insT,\N,\N,7/12,Unknown significance,\N,intron_variant,\N,\N,\N,ESPN
1610,1:6507719:C>G,NM_031475.2:c.1465-982C>G,\N,\N,7/12,Unknown significance,\N,intron_variant,14.32,0.001,1KG_SAS_AF,ESPN
1611,1:6507780:G>A,NM_031475.2:c.1465-921G>A,\N,\N,7/12,Unknown significance,\N,intron_variant,15.09,0.001,1KG_EUR_AF,ESPN
1612,1:6507785:G>A,NM_031475.2:c.1465-916G>A,\N,\N,7/12,Unknown significance,\N,intron_variant,11.16,\N,\N,ESPN
1613,1:6507788:G>C,NM_031475.2:c.1465-913G>C,\N,\N,7/12,Unknown significance,\N,intron_variant,8.997,\N,\N,ESPN
1614,1:6507800:G>A,NM_031475.2:c.1465-901G>A,\N,\N,7/12,Benign,\N,intron_variant,14.97,0.6936,1KG_AFR_AF,ESPN
1615,1:6507813:G>C,NM_031475.2:c.1465-888G>C,\N,\N,7/12,Unknown significance,\N,intron_variant,11.19,\N,\N,ESPN
1616,1:6507814:G>A,NM_031475.2:c.1465-887G>A,\N,\N,7/12,Unknown significance,\N,intron_variant,12.56,\N,\N,ESPN
1617,1:6507823:T>C,NM_031475.2:c.1465-878T>C,\N,\N,7/12,Benign,\N,intron_variant,11.73,0.0102,1KG_SAS_AF,ESPN
1618,1:6507832:T>C,NM_031475.2:c.1465-869T>C,\N,\N,7/12,Unknown significance,\N,intron_variant,9.964,\N,\N,ESPN
1619,1:6507844:A>G,NM_031475.2:c.1465-857A>G,\N,\N,7/12,Unknown significance,\N,intron_variant,4.274,\N,\N,ESPN
1620,1:6507856:C>T,NM_031475.2:c.1465-845C>T,\N,\N,7/12,Unknown significance,\N,intron_variant,9.871,0.001,1KG_SAS_AF,ESPN
1621,1:6507857:C>T,NM_031475.2:c.1465-844C>T,\N,\N,7/12,Unknown significance,\N,intron_variant,9.716,\N,\N,ESPN
1622,1:6507863:C>T,NM_031475.2:c.1465-838C>T,\N,\N,7/12,Unknown significance,\N,intron_variant,10.59,\N,\N,ESPN
1623,1:6507878:G>A,NM_031475.2:c.1465-823G>A,\N,\N,7/12,Unknown significance,\N,intron_variant,13.32,0.002,1KG_SAS_AF,ESPN
1624,1:6507935:G>C,NM_031475.2:c.1465-766G>C,\N,\N,7/12,Unknown significance,\N,intron_variant,1.075,\N,\N,ESPN
1625,1:6507936:G>C,NM_031475.2:c.1465-765G>C,\N,\N,7/12,Benign,\N,intron_variant,6.503,0.1271,1KG_AFR_AF,ESPN
1626,1:6507939:A>G,NM_031475.2:c.1465-762A>G,\N,\N,7/12,Unknown significance,\N,intron_variant,5.907,\N,\N,ESPN
1627,1:6507950:G>A,NM_031475.2:c.1465-751G>A,\N,\N,7/12,Unknown significance,\N,intron_variant,6.919,0.001,1KG_EAS_AF,ESPN
1628,1:6507969:A>G,NM_031475.2:c.1465-732A>G,\N,\N,7/12,Unknown significance,\N,intron_variant,4.631,\N,\N,ESPN
1629,1:6508000:C>T,NM_031475.2:c.1465-701C>T,\N,\N,7/12,Benign,\N,intron_variant,11.08,0.0189,1KG_AFR_AF,ESPN
1630,1:6508004:T>TG,NM_031475.2:c.1465-690dup,\N,\N,7/12,Unknown significance,\N,intron_variant,\N,\N,\N,ESPN
1631,1:6508004:T>TGGG,NM_031475.2:c.1465-692_1465-690dup,\N,\N,7/12,Unknown significance,\N,intron_variant,\N,\N,\N,ESPN
1632,1:6508006:G>C,NM_031475.2:c.1465-695G>C,\N,\N,7/12,Benign,\N,intron_variant,6.259,0.0215,1KG_SAS_AF,ESPN
1633,1:6508015:A>G,NM_031475.2:c.1465-686A>G,\N,\N,7/12,Unknown significance,\N,intron_variant,6.799,\N,\N,ESPN
1634,1:6508028:CG>C,NM_031475.2:c.1465-670del,\N,\N,7/12,Unknown significance,\N,intron_variant,\N,\N,\N,ESPN
1635,1:6508031:G>T,NM_031475.2:c.1465-670G>T,\N,\N,7/12,Unknown significance,\N,intron_variant,7.109,0.003,1KG_AFR_AF,ESPN
1636,1:6508060:C>CT,NM_031475.2:c.1465-641_1465-640insT,\N,\N,7/12,Unknown significance,\N,intron_variant,\N,0.0023,1KG_AFR_AF,ESPN
1637,1:6508071:T>C,NM_031475.2:c.1465-630T>C,\N,\N,7/12,Unknown significance,\N,intron_variant,5.116,\N,\N,ESPN
1638,1:6508078:G>C,NM_031475.2:c.1465-623G>C,\N,\N,7/12,Benign,\N,intron_variant,8.447,0.0446,1KG_AFR_AF,ESPN
1639,1:6508081:T>C,NM_031475.2:c.1465-620T>C,\N,\N,7/12,Unknown significance,\N,intron_variant,7.829,\N,\N,ESPN
1640,1:6508081:T>G,NM_031475.2:c.1465-620T>G,\N,\N,7/12,Unknown significance,\N,intron_variant,8.951,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,ESPN
1641,1:6508083:G>T,NM_031475.2:c.1465-618G>T,\N,\N,7/12,Unknown significance,\N,intron_variant,10.02,\N,\N,ESPN
1642,1:6508107:G>C,NM_031475.2:c.1465-594G>C,\N,\N,7/12,Unknown significance,\N,intron_variant,11.74,\N,\N,ESPN
1643,1:6508109:T>G,NM_031475.2:c.1465-592T>G,\N,\N,7/12,Unknown significance,\N,intron_variant,13.76,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,ESPN
1644,1:6508112:C>A,NM_031475.2:c.1465-589C>A,\N,\N,7/12,Unknown significance,\N,intron_variant,16.43,\N,\N,ESPN
1645,1:6508112:C>T,NM_031475.2:c.1465-589C>T,\N,\N,7/12,Unknown significance,\N,intron_variant,15.17,\N,\N,ESPN
1646,1:6508121:C>G,NM_031475.2:c.1465-580C>G,\N,\N,7/12,Unknown significance,\N,intron_variant,11.79,\N,\N,ESPN
1647,1:6508122:G>C,NM_031475.2:c.1465-579G>C,\N,\N,7/12,Benign,\N,intron_variant,8.729,0.6944,1KG_AFR_AF,ESPN
1648,1:6508125:T>G,NM_031475.2:c.1465-576T>G,\N,\N,7/12,Unknown significance,\N,intron_variant,10.83,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,ESPN
1649,1:6508138:A>G,NM_031475.2:c.1465-563A>G,\N,\N,7/12,Unknown significance,\N,intron_variant,6.397,\N,\N,ESPN
1650,1:6508140:A>C,NM_031475.2:c.1465-561A>C,\N,\N,7/12,Unknown significance,\N,intron_variant,4.787,\N,\N,ESPN
1651,1:6508155:G>A,NM_031475.2:c.1465-546G>A,\N,\N,7/12,Unknown significance,\N,intron_variant,18.32,0.0015,1KG_AFR_AF,ESPN
1652,1:6508158:G>A,NM_031475.2:c.1465-543G>A,\N,\N,7/12,Unknown significance,\N,intron_variant,17.33,\N,\N,ESPN
1653,1:6508164:C>A,NM_031475.2:c.1465-537C>A,\N,\N,7/12,Unknown significance,\N,intron_variant,19.92,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,ESPN
1654,1:6508171:G>C,NM_031475.2:c.1465-530G>C,\N,\N,7/12,Benign,\N,intron_variant,16.47,0.0159,1KG_EUR_AF,ESPN
1655,1:6508177:G>A,NM_031475.2:c.1465-524G>A,\N,\N,7/12,Unknown significance,\N,intron_variant,16.49,0.0008,1KG_AFR_AF,ESPN
1656,1:6508180:A>T,NM_031475.2:c.1465-521A>T,\N,\N,7/12,Unknown significance,\N,intron_variant,14.89,\N,\N,ESPN
1657,1:6508192:C>T,NM_031475.2:c.1465-509C>T,\N,\N,7/12,Unknown significance,\N,intron_variant,10.3,\N,\N,ESPN
1658,1:6508193:G>A,NM_031475.2:c.1465-508G>A,\N,\N,7/12,Unknown significance,\N,intron_variant,10.4,\N,\N,ESPN
1659,1:6508199:G>A,NM_031475.2:c.1465-502G>A,\N,\N,7/12,Unknown significance,\N,intron_variant,7.682,\N,\N,ESPN
1660,1:6508203:C>G,NM_031475.2:c.1465-498C>G,\N,\N,7/12,Unknown significance,\N,intron_variant,7.383,\N,\N,ESPN
1661,1:6508205:G>A,NM_031475.2:c.1465-496G>A,\N,\N,7/12,Unknown significance,\N,intron_variant,8.264,\N,\N,ESPN
1662,1:6508213:T>G,NM_031475.2:c.1465-488T>G,\N,\N,7/12,Unknown significance,\N,intron_variant,7.496,\N,\N,ESPN
1663,1:6508239:A>G,NM_031475.2:c.1465-462A>G,\N,\N,7/12,Unknown significance,\N,intron_variant,6.694,0.001,1KG_EAS_AF,ESPN
1664,1:6508267:C>G,NM_031475.2:c.1465-434C>G,\N,\N,7/12,Benign,\N,intron_variant,5.093,0.6445,1KG_AFR_AF,ESPN
1665,1:6508285:G>T,NM_031475.2:c.1465-416G>T,\N,\N,7/12,Unknown significance,\N,intron_variant,6.728,0.001,1KG_EUR_AF,ESPN
1666,1:6508292:C>T,NM_031475.2:c.1465-409C>T,\N,\N,7/12,Unknown significance,\N,intron_variant,9.611,\N,\N,ESPN
1667,1:6508357:G>A,NM_031475.2:c.1465-344G>A,\N,\N,7/12,Unknown significance,\N,intron_variant,6.062,\N,\N,ESPN
1668,1:6508382:G>A,NM_031475.2:c.1465-319G>A,\N,\N,7/12,Unknown significance,\N,intron_variant,12.53,0.001,1KG_SAS_AF,ESPN
1669,1:6508382:G>T,NM_031475.2:c.1465-319G>T,\N,\N,7/12,Unknown significance,\N,intron_variant,11.45,\N,\N,ESPN
1670,1:6508384:C>T,NM_031475.2:c.1465-317C>T,\N,\N,7/12,Unknown significance,\N,intron_variant,13.65,\N,\N,ESPN
1671,1:6508402:G>A,NM_031475.2:c.1465-299G>A,\N,\N,7/12,Unknown significance,\N,intron_variant,16.26,\N,\N,ESPN
1672,1:6508432:T>C,NM_031475.2:c.1465-269T>C,\N,\N,7/12,Unknown significance,\N,intron_variant,16.13,\N,\N,ESPN
1673,1:6508452:C>A,NM_031475.2:c.1465-249C>A,\N,\N,7/12,Unknown significance,\N,intron_variant,18.17,\N,\N,ESPN
1674,1:6508499:GC>G,NM_031475.2:c.1465-201del,\N,\N,7/12,Unknown significance,\N,intron_variant,9.055,0.0041,1KG_SAS_AF,ESPN
1675,1:6508591:T>C,NM_031475.2:c.1465-110T>C,\N,\N,7/12,Unknown significance,\N,intron_variant,7.184,\N,\N,ESPN
1676,1:6508595:C>T,NM_031475.2:c.1465-106C>T,\N,\N,7/12,Benign,\N,intron_variant,11.05,0.0276,1KG_SAS_AF,ESPN
1677,1:6508613:C>T,NM_031475.2:c.1465-88C>T,\N,\N,7/12,Unknown significance,\N,intron_variant,9.943,\N,\N,ESPN
1678,1:6508625:A>G,NM_031475.2:c.1465-76A>G,\N,\N,7/12,Benign,\N,intron_variant,8.388,0.6967,1KG_AFR_AF,ESPN
1679,1:6508633:G>T,NM_031475.2:c.1465-68G>T,\N,\N,7/12,Benign,\N,intron_variant,8.892,0.6967,1KG_AFR_AF,ESPN
1680,1:6508646:G>T,NM_031475.2:c.1465-55G>T,\N,\N,7/12,Benign,\N,intron_variant,12.95,0.0121,1KG_AFR_AF,ESPN
1681,1:6508653:G>A,NM_031475.2:c.1465-48G>A,\N,\N,7/12,Unknown significance,\N,intron_variant,9.753,\N,\N,ESPN
1682,1:6508658:C>A,NM_031475.2:c.1465-43C>A,\N,\N,7/12,Unknown significance,\N,intron_variant,7.703,0.0015,1KG_AFR_AF,ESPN
1683,1:6508659:C>A,NM_031475.2:c.1465-42C>A,\N,\N,7/12,Unknown significance,\N,intron_variant,9.069,0.0015,1KG_AFR_AF,ESPN
1684,1:6508665:G>A,NM_031475.2:c.1465-36G>A,\N,\N,7/12,Unknown significance,\N,intron_variant,5.168,0.00037831,EXAC_SAS_AF,ESPN
1685,1:6508666:G>T,NM_031475.2:c.1465-35G>T,\N,\N,7/12,Benign,\N,intron_variant,7.415,0.029563,EXAC_AFR_AF,ESPN
1686,1:6508667:T>G,NM_031475.2:c.1465-34T>G,\N,\N,7/12,Unknown significance,\N,intron_variant,8.731,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,ESPN
1687,1:6508671:C>T,NM_031475.2:c.1465-30C>T,\N,\N,7/12,Unknown significance,\N,intron_variant,10.59,\N,\N,ESPN
1688,1:6508682:G>A,NM_031475.2:c.1465-19G>A,\N,\N,7/12,Unknown significance,\N,intron_variant,9.964,0.0000960984,EXAC_NFE_AF,ESPN
1689,1:6508689:G>C,NM_031475.2:c.1465-12G>C,\N,\N,7/12,Benign,\N,intron_variant,7.146,0.00520833,EXAC_OTH_AF,ESPN
1690,1:6508692:T>C,NM_031475.2:c.1465-9T>C,\N,\N,7/12,Unknown significance,\N,intron_variant,6.469,0.000619579,EXAC_AMR_AF,ESPN
1691,1:6508697:G>T,NM_031475.2:c.1465-4G>T,\N,\N,7/12,Unknown significance,\N,splice_region_variant&intron_variant,8.247,\N,\N,ESPN
1692,1:6508700:G>C,NM_031475.2:c.1465-1G>C,\N,\N,7/12,Unknown significance,\N,splice_acceptor_variant,22.6,\N,\N,ESPN
1693,1:6508702:T>C,NM_031475.2:c.1466T>C,NP_113663.2:p.Leu489Pro,8/13,\N,Likely benign,\N,missense_variant&splice_region_variant,0.365,\N,\N,ESPN
1694,1:6508712:T>C,NM_031475.2:c.1476T>C,NP_113663.2:p.Cys492=,8/13,\N,Benign,\N,synonymous_variant,0.016,0.6936,1KG_AFR_AF,ESPN
1695,1:6508716:G>A,NM_031475.2:c.1480G>A,NP_113663.2:p.Gly494Ser,8/13,\N,Likely benign,\N,missense_variant,11.57,\N,\N,ESPN
1696,1:6508721:C>T,NM_031475.2:c.1485C>T,NP_113663.2:p.His495=,8/13,\N,Unknown significance,\N,synonymous_variant,12.75,\N,\N,ESPN
1697,1:6508724:C>T,NM_031475.2:c.1488C>T,NP_113663.2:p.Asp496=,8/13,\N,Unknown significance,\N,synonymous_variant,17.23,0.00015674,EXAC_NFE_AF,ESPN
1698,1:6508725:G>A,NM_031475.2:c.1489G>A,NP_113663.2:p.Gly497Arg,8/13,\N,Unknown significance,\N,missense_variant,25.4,0.00118746,EXAC_NFE_AF,ESPN
1699,1:6508740:G>T,NM_031475.2:c.1504G>T,NP_113663.2:p.Asp502Tyr,8/13,\N,Benign,\N,missense_variant,29,0.005,EXAC_OTH_AF,ESPN
1700,1:6508741:A>C,NM_031475.2:c.1505A>C,NP_113663.2:p.Asp502Ala,8/13,\N,Unknown significance,\N,missense_variant,24.2,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,ESPN
1701,1:6508743:T>C,NM_031475.2:c.1507T>C,NP_113663.2:p.Ser503Pro,8/13,\N,Benign,\N,missense_variant,27.3,0.005,OTO_TR_AF,ESPN
1702,1:6508748:C>G,NM_031475.2:c.1512C>G,NP_113663.2:p.Ser504Arg,8/13,\N,Likely benign,\N,missense_variant,22.7,0.00221893,EXAC_AMR_AF,ESPN
1703,1:6508750:G>A,NM_031475.2:c.1514G>A,NP_113663.2:p.Arg505His,8/13,\N,Unknown significance,\N,missense_variant,34,0.000104493,EXAC_NFE_AF,ESPN
1704,1:6508751:C>T,NM_031475.2:c.1515C>T,NP_113663.2:p.Arg505=,8/13,\N,Unknown significance,\N,synonymous_variant,15.61,0.000668449,EXAC_EAS_AF,ESPN
1705,1:6508755:C>T,NM_031475.2:c.1519C>T,NP_113663.2:p.Pro507Ser,8/13,\N,Likely benign,\N,missense_variant,6.87,\N,\N,ESPN
1706,1:6508756:C>T,NM_031475.2:c.1520C>T,NP_113663.2:p.Pro507Leu,8/13,\N,Likely benign,\N,missense_variant,24.3,0.000107643,EXAC_NFE_AF,ESPN
1707,1:6508758:C>A,NM_031475.2:c.1522C>A,NP_113663.2:p.Arg508Ser,8/13,\N,Unknown significance,\N,missense_variant,24.6,\N,\N,ESPN
1708,1:6508763:C>T,NM_031475.2:c.1527C>T,NP_113663.2:p.Ala509=,8/13,\N,Unknown significance,\N,synonymous_variant,17.57,0.000128999,EXAC_SAS_AF,ESPN
1709,1:6508780:G>C,NM_031475.2:c.1544G>C,NP_113663.2:p.Ser515Thr,8/13,\N,Unknown significance,\N,missense_variant,23.7,0.000264831,EXAC_NFE_AF,ESPN
1710,1:6508783:C>T,NM_031475.2:c.1547C>T,NP_113663.2:p.Thr516Met,8/13,\N,Unknown significance,\N,missense_variant,34,0.000306373,EXAC_NFE_AF,ESPN
1711,1:6508790:C>A,NM_031475.2:c.1554C>A,NP_113663.2:p.Asp518Glu,8/13,\N,Unknown significance,\N,missense_variant,24.3,0.000146671,EXAC_SAS_AF,ESPN
1712,1:6508794:T>TA,NM_031475.2:c.1559dup,NP_113663.2:p.Tyr520Ter,8/13,\N,Unknown significance,\N,stop_gained&frameshift_variant,\N,\N,\N,ESPN
1713,1:6508795:A>C,NM_031475.2:c.1559A>C,NP_113663.2:p.Tyr520Ser,8/13,\N,Unknown significance,\N,missense_variant,31,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,ESPN
1714,1:6508818:G>A,NM_031475.2:c.1582G>A,NP_113663.2:p.Gly528Ser,8/13,\N,Likely benign,\N,missense_variant,11.63,0.000532481,EXAC_NFE_AF,ESPN
1715,1:6508829:G>A,NM_031475.2:c.1593G>A,NP_113663.2:p.Leu531=,8/13,\N,Unknown significance,\N,synonymous_variant,4.222,0.0038,1KG_AFR_AF,ESPN
1716,1:6508838:C>G,NM_031475.2:c.1602C>G,NP_113663.2:p.Arg534=,8/13,\N,Benign,\N,synonymous_variant,4.596,0.0131579,EXAC_OTH_AF,ESPN
1717,1:6508872:C>T,NM_031475.2:c.1636C>T,NP_113663.2:p.Arg546Cys,8/13,\N,Benign,\N,missense_variant,10.93,0.8,EXAC_AFR_AF,ESPN
1718,1:6508887:G>A,NM_031475.2:c.1651G>A,NP_113663.2:p.Ala551Thr,8/13,\N,Likely benign,\N,missense_variant,14.29,\N,\N,ESPN
1719,1:6508902:C>G,NM_031475.2:c.1666C>G,NP_113663.2:p.Leu556Val,8/13,\N,Likely benign,\N,missense_variant,5.651,0.001,1KG_SAS_AF,ESPN
1720,1:6508904:C>T,NM_031475.2:c.1668C>T,NP_113663.2:p.Leu556=,8/13,\N,Benign,\N,synonymous_variant,7.578,0.0116279,EXAC_SAS_AF,ESPN
1721,1:6508945:C>T,NM_031475.2:c.1709C>T,NP_113663.2:p.Pro570Leu,8/13,\N,Benign,\N,missense_variant,23.2,0.0769854,EXAC_SAS_AF,ESPN
1722,1:6508948:C>A,NM_031475.2:c.1712C>A,NP_113663.2:p.Pro571Gln,8/13,\N,Unknown significance,\N,missense_variant,28.9,0.000683995,EXAC_SAS_AF,ESPN
1723,1:6508948:C>T,NM_031475.2:c.1712C>T,NP_113663.2:p.Pro571Leu,8/13,\N,Unknown significance,\N,missense_variant,23.6,0.00273598,EXAC_SAS_AF,ESPN
1724,1:6508991:C>CG,NM_031475.2:c.1756dup,NP_113663.2:p.Ala586GlyfsTer73,8/13,\N,Pathogenic,Hearing loss| non-syndromic,frameshift_variant,27,\N,\N,ESPN
1725,1:6509021:GCCACCGCCGCCC>G,NM_031475.2:c.1797_1808del,NP_113663.2:p.Pro602_Pro605del,8/13,\N,Unknown significance,\N,inframe_deletion,15,0.004,1KG_EAS_AF|1KG_EUR_AF,ESPN
1726,1:6509025:C>T,NM_031475.2:c.1789C>T,NP_113663.2:p.Pro597Ser,8/13,\N,Unknown significance,\N,missense_variant,14.36,0.000191939,EXAC_SAS_AF,ESPN
1727,1:6509036:A>ACCG,NM_031475.2:c.1812_1814dup,NP_113663.2:p.Pro605dup,8/13,\N,Unknown significance,\N,inframe_insertion,8.771,0.00430697,EXAC_SAS_AF,ESPN
1728,1:6509036:ACCG>A,NM_031475.2:c.1812_1814del,NP_113663.2:p.Pro605del,8/13,\N,Benign,\N,inframe_deletion,11.42,0.00724638,EXAC_AFR_AF,ESPN
1729,1:6509041:C>T,NM_031475.2:c.1805C>T,NP_113663.2:p.Pro602Leu,8/13,\N,Benign,\N,missense_variant,26.4,0.00675676,EXAC_AFR_AF,ESPN
1730,1:6509042:G>A,NM_031475.2:c.1806G>A,NP_113663.2:p.Pro602=,8/13,\N,Unknown significance,\N,synonymous_variant,7.27,0.000179404,EXAC_SAS_AF,ESPN
1731,1:6509047:C>T,NM_031475.2:c.1811C>T,NP_113663.2:p.Pro604Leu,8/13,\N,Unknown significance,\N,missense_variant,28.7,0.000172592,EXAC_SAS_AF,ESPN
1732,1:6509064:G>C,NM_031475.2:c.1828G>C,NP_113663.2:p.Ala610Pro,8/13,\N,Benign,\N,missense_variant,10.83,0.00892857,EXAC_EAS_AF,ESPN
1733,1:6509086:C>T,NM_031475.2:c.1850C>T,NP_113663.2:p.Pro617Leu,8/13,\N,Unknown significance,\N,missense_variant,24.4,0.000393701,EXAC_NFE_AF,ESPN
1734,1:6509106:G>A,NM_031475.2:c.1870G>A,NP_113663.2:p.Ala624Thr,8/13,\N,Likely benign,\N,missense_variant,22.4,0.000135685,EXAC_SAS_AF,ESPN
1735,1:6509112:C>T,NM_031475.2:c.1876C>T,NP_113663.2:p.Pro626Ser,8/13,\N,Likely benign,\N,missense_variant,17.92,\N,\N,ESPN
1736,1:6509113:C>T,NM_031475.2:c.1877C>T,NP_113663.2:p.Pro626Leu,8/13,\N,Unknown significance,\N,missense_variant,24.4,\N,\N,ESPN
1737,1:6509130:C>T,NM_031475.2:c.1894C>T,NP_113663.2:p.Arg632Cys,8/13,\N,Benign,\N,missense_variant,35,0.00915301,EXAC_SAS_AF,ESPN
1738,1:6509131:G>A,NM_031475.2:c.1895G>A,NP_113663.2:p.Arg632His,8/13,\N,Unknown significance,\N,missense_variant,34,\N,\N,ESPN
1739,1:6509140:C>A,NM_031475.2:c.1904C>A,NP_113663.2:p.Ser635Ter,8/13,\N,Unknown significance,\N,stop_gained,39,\N,\N,ESPN
1740,1:6509148:G>T,NM_031475.2:c.1912G>T,NP_113663.2:p.Gly638Cys,8/13,\N,Unknown significance,\N,missense_variant,31,0.000139353,EXAC_SAS_AF,ESPN
1741,1:6509167:T>G,NM_031475.2:c.1915+16T>G,\N,\N,8/12,Unknown significance,\N,intron_variant,7.21,\N,\N,ESPN
1742,1:6509171:G>A,NM_031475.2:c.1915+20G>A,\N,\N,8/12,Unknown significance,\N,intron_variant,11.26,\N,\N,ESPN
1743,1:6509175:C>T,NM_031475.2:c.1915+24C>T,\N,\N,8/12,Unknown significance,\N,intron_variant,13.53,\N,\N,ESPN
1744,1:6509177:T>G,NM_031475.2:c.1915+26T>G,\N,\N,8/12,Unknown significance,\N,intron_variant,13.37,\N,\N,ESPN
1745,1:6509183:G>A,NM_031475.2:c.1915+32G>A,\N,\N,8/12,Unknown significance,\N,intron_variant,19.4,\N,\N,ESPN
1746,1:6509186:G>C,NM_031475.2:c.1915+35G>C,\N,\N,8/12,Unknown significance,\N,intron_variant,16.01,\N,\N,ESPN
1747,1:6509188:T>C,NM_031475.2:c.1915+37T>C,\N,\N,8/12,Unknown significance,\N,intron_variant,16.76,0.0008,1KG_AFR_AF,ESPN
1748,1:6509202:G>A,NM_031475.2:c.1915+51G>A,\N,\N,8/12,Unknown significance,\N,intron_variant,17.09,\N,\N,ESPN
1749,1:6509244:C>G,NM_031475.2:c.1915+93C>G,\N,\N,8/12,Unknown significance,\N,intron_variant,9.557,\N,\N,ESPN
1750,1:6509318:G>A,NM_031475.2:c.1915+167G>A,\N,\N,8/12,Unknown significance,\N,intron_variant,7.689,0.001,1KG_EAS_AF,ESPN
1751,1:6509325:T>G,NM_031475.2:c.1915+174T>G,\N,\N,8/12,Unknown significance,\N,intron_variant,4.53,0.0008,1KG_AFR_AF,ESPN
1752,1:6509334:T>G,NM_031475.2:c.1915+183T>G,\N,\N,8/12,Unknown significance,\N,intron_variant,8.764,\N,\N,ESPN
1753,1:6509345:G>A,NM_031475.2:c.1915+194G>A,\N,\N,8/12,Unknown significance,\N,intron_variant,9.852,0.0023,1KG_AFR_AF,ESPN
1754,1:6509349:G>A,NM_031475.2:c.1915+198G>A,\N,\N,8/12,Unknown significance,\N,intron_variant,6.27,0.0008,1KG_AFR_AF,ESPN
1755,1:6509352:C>T,NM_031475.2:c.1915+201C>T,\N,\N,8/12,Unknown significance,\N,intron_variant,8.594,\N,\N,ESPN
1756,1:6509358:G>A,NM_031475.2:c.1915+207G>A,\N,\N,8/12,Unknown significance,\N,intron_variant,8.632,\N,\N,ESPN
1757,1:6509393:C>G,NM_031475.2:c.1915+242C>G,\N,\N,8/12,Benign,\N,intron_variant,12.17,0.0204,1KG_SAS_AF,ESPN
1758,1:6509403:C>T,NM_031475.2:c.1915+252C>T,\N,\N,8/12,Unknown significance,\N,intron_variant,16.13,\N,\N,ESPN
1759,1:6509408:CT>C,NM_031475.2:c.1915+258del,\N,\N,8/12,Unknown significance,\N,intron_variant,16.55,\N,\N,ESPN
1760,1:6509413:T>C,NM_031475.2:c.1915+262T>C,\N,\N,8/12,Unknown significance,\N,intron_variant,14.91,0.001,1KG_EAS_AF,ESPN
1761,1:6509434:C>T,NM_031475.2:c.1915+283C>T,\N,\N,8/12,Unknown significance,\N,intron_variant,16.68,0.0014,1KG_AMR_AF,ESPN
1762,1:6509471:C>G,NM_031475.2:c.1915+320C>G,\N,\N,8/12,Benign,\N,intron_variant,6.163,0.2564,1KG_AFR_AF,ESPN
1763,1:6509500:G>T,NM_031475.2:c.1915+349G>T,\N,\N,8/12,Unknown significance,\N,intron_variant,6.54,0.0031,1KG_SAS_AF,ESPN
1764,1:6509517:T>TG,NM_031475.2:c.1915+367dup,\N,\N,8/12,Unknown significance,\N,intron_variant,\N,\N,\N,ESPN
1765,1:6509539:C>G,NM_031475.2:c.1915+388C>G,\N,\N,8/12,Unknown significance,\N,intron_variant,3.469,\N,\N,ESPN
1766,1:6509543:C>T,NM_031475.2:c.1915+392C>T,\N,\N,8/12,Unknown significance,\N,intron_variant,4.672,\N,\N,ESPN
1767,1:6509549:A>C,NM_031475.2:c.1915+398A>C,\N,\N,8/12,Unknown significance,\N,intron_variant,3.861,\N,\N,ESPN
1768,1:6509558:T>C,NM_031475.2:c.1915+407T>C,\N,\N,8/12,Benign,\N,intron_variant,6.175,0.6959,1KG_AFR_AF,ESPN
1769,1:6509578:A>G,NM_031475.2:c.1915+427A>G,\N,\N,8/12,Unknown significance,\N,intron_variant,2.504,\N,\N,ESPN
1770,1:6509594:G>C,NM_031475.2:c.1915+443G>C,\N,\N,8/12,Benign,\N,intron_variant,3.647,0.0666,1KG_AFR_AF,ESPN
1771,1:6509597:C>CCT,NM_031475.2:c.1915+446_1915+447insCT,\N,\N,8/12,Unknown significance,\N,intron_variant,9.434,\N,\N,ESPN
1772,1:6509610:C>G,NM_031475.2:c.1915+459C>G,\N,\N,8/12,Unknown significance,\N,intron_variant,6.279,\N,\N,ESPN
1773,1:6509610:C>T,NM_031475.2:c.1915+459C>T,\N,\N,8/12,Unknown significance,\N,intron_variant,7.582,\N,\N,ESPN
1774,1:6509628:C>G,NM_031475.2:c.1915+477C>G,\N,\N,8/12,Unknown significance,\N,intron_variant,3.631,\N,\N,ESPN
1775,1:6509632:T>C,NM_031475.2:c.1915+481T>C,\N,\N,8/12,Unknown significance,\N,intron_variant,4.796,0.0015,1KG_AFR_AF,ESPN
1776,1:6509643:C>T,NM_031475.2:c.1915+492C>T,\N,\N,8/12,Unknown significance,\N,intron_variant,11.84,\N,\N,ESPN
1777,1:6509661:C>T,NM_031475.2:c.1915+510C>T,\N,\N,8/12,Unknown significance,\N,intron_variant,10.23,\N,\N,ESPN
1778,1:6509667:T>C,NM_031475.2:c.1915+516T>C,\N,\N,8/12,Benign,\N,intron_variant,6.833,0.7269,1KG_AFR_AF,ESPN
1779,1:6509713:G>C,NM_031475.2:c.1915+562G>C,\N,\N,8/12,Unknown significance,\N,intron_variant,2.154,0.0014,1KG_AMR_AF,ESPN
1780,1:6509732:C>T,NM_031475.2:c.1915+581C>T,\N,\N,8/12,Unknown significance,\N,intron_variant,7.606,0.001,1KG_EAS_AF,ESPN
1781,1:6509763:G>A,NM_031475.2:c.1915+612G>A,\N,\N,8/12,Unknown significance,\N,intron_variant,3.989,\N,\N,ESPN
1782,1:6509765:G>A,NM_031475.2:c.1915+614G>A,\N,\N,8/12,Unknown significance,\N,intron_variant,6.776,0.001,1KG_EUR_AF,ESPN
1783,1:6509766:T>A,NM_031475.2:c.1915+615T>A,\N,\N,8/12,Unknown significance,\N,intron_variant,4.278,0.001,1KG_EAS_AF,ESPN
1784,1:6509772:C>T,NM_031475.2:c.1915+621C>T,\N,\N,8/12,Unknown significance,\N,intron_variant,8.643,\N,\N,ESPN
1785,1:6509778:T>C,NM_031475.2:c.1915+627T>C,\N,\N,8/12,Unknown significance,\N,intron_variant,2.053,\N,\N,ESPN
1786,1:6509794:T>G,NM_031475.2:c.1915+643T>G,\N,\N,8/12,Unknown significance,\N,intron_variant,6.276,0.001,1KG_EAS_AF,ESPN
1787,1:6509800:A>T,NM_031475.2:c.1915+649A>T,\N,\N,8/12,Unknown significance,\N,intron_variant,6.564,\N,\N,ESPN
1788,1:6509823:T>C,NM_031475.2:c.1915+672T>C,\N,\N,8/12,Unknown significance,\N,intron_variant,6.173,\N,\N,ESPN
1789,1:6509833:C>A,NM_031475.2:c.1915+682C>A,\N,\N,8/12,Unknown significance,\N,intron_variant,7.055,\N,\N,ESPN
1790,1:6509840:G>T,NM_031475.2:c.1915+689G>T,\N,\N,8/12,Unknown significance,\N,intron_variant,1.793,\N,\N,ESPN
1791,1:6509865:C>T,NM_031475.2:c.1915+714C>T,\N,\N,8/12,Unknown significance,\N,intron_variant,7.875,\N,\N,ESPN
1792,1:6509965:C>T,NM_031475.2:c.1915+814C>T,\N,\N,8/12,Unknown significance,\N,intron_variant,8.176,\N,\N,ESPN
1793,1:6510002:C>T,NM_031475.2:c.1915+851C>T,\N,\N,8/12,Unknown significance,\N,intron_variant,6.755,0.001,1KG_EAS_AF,ESPN
1794,1:6510026:G>C,NM_031475.2:c.1915+875G>C,\N,\N,8/12,Unknown significance,\N,intron_variant,4.405,0.002,1KG_EUR_AF,ESPN
1795,1:6510028:G>A,NM_031475.2:c.1915+877G>A,\N,\N,8/12,Benign,\N,intron_variant,5.833,0.0119,1KG_EAS_AF,ESPN
1796,1:6510040:A>G,NM_031475.2:c.1915+889A>G,\N,\N,8/12,Unknown significance,\N,intron_variant,2.573,0.001,1KG_EUR_AF,ESPN
1797,1:6510041:C>T,NM_031475.2:c.1915+890C>T,\N,\N,8/12,Unknown significance,\N,intron_variant,5.924,0.0041,1KG_SAS_AF,ESPN
1798,1:6510056:C>T,NM_031475.2:c.1915+905C>T,\N,\N,8/12,Unknown significance,\N,intron_variant,5.983,\N,\N,ESPN
1799,1:6510061:C>T,NM_031475.2:c.1915+910C>T,\N,\N,8/12,Unknown significance,\N,intron_variant,2.583,0.0014,1KG_AMR_AF,ESPN
1800,1:6510098:C>T,NM_031475.2:c.1915+947C>T,\N,\N,8/12,Unknown significance,\N,intron_variant,7.761,\N,\N,ESPN
1801,1:6510104:G>A,NM_031475.2:c.1915+953G>A,\N,\N,8/12,Unknown significance,\N,intron_variant,0.781,0.001,1KG_EAS_AF,ESPN
1802,1:6510110:CCTT>C,NM_031475.2:c.1915+964_1915+966del,\N,\N,8/12,Unknown significance,\N,intron_variant,6.283,0.0015,1KG_AFR_AF,ESPN
1803,1:6510127:C>T,NM_031475.2:c.1915+976C>T,\N,\N,8/12,Unknown significance,\N,intron_variant,8.113,\N,\N,ESPN
1804,1:6510146:T>C,NM_031475.2:c.1915+995T>C,\N,\N,8/12,Unknown significance,\N,intron_variant,3.805,0.001,1KG_EUR_AF,ESPN
1805,1:6510162:C>T,NM_031475.2:c.1915+1011C>T,\N,\N,8/12,Unknown significance,\N,intron_variant,3.797,\N,\N,ESPN
1806,1:6510164:T>C,NM_031475.2:c.1915+1013T>C,\N,\N,8/12,Unknown significance,\N,intron_variant,2.107,0.0014,1KG_AMR_AF,ESPN
1807,1:6510188:T>C,NM_031475.2:c.1915+1037T>C,\N,\N,8/12,Benign,\N,intron_variant,1.125,0.0469,1KG_AFR_AF,ESPN
1808,1:6510192:C>G,NM_031475.2:c.1915+1041C>G,\N,\N,8/12,Unknown significance,\N,intron_variant,5.834,0.002,1KG_EAS_AF,ESPN
1809,1:6510216:C>T,NM_031475.2:c.1915+1065C>T,\N,\N,8/12,Unknown significance,\N,intron_variant,8.395,0.001,1KG_EAS_AF,ESPN
1810,1:6510266:G>T,NM_031475.2:c.1915+1115G>T,\N,\N,8/12,Unknown significance,\N,intron_variant,4.646,0.003,1KG_AFR_AF,ESPN
1811,1:6510308:G>A,NM_031475.2:c.1915+1157G>A,\N,\N,8/12,Unknown significance,\N,intron_variant,6.543,0.001,1KG_SAS_AF,ESPN
1812,1:6510372:A>T,NM_031475.2:c.1915+1221A>T,\N,\N,8/12,Unknown significance,\N,intron_variant,2.905,\N,\N,ESPN
1813,1:6510395:C>T,NM_031475.2:c.1915+1244C>T,\N,\N,8/12,Unknown significance,\N,intron_variant,6.978,\N,\N,ESPN
1814,1:6510398:C>T,NM_031475.2:c.1915+1247C>T,\N,\N,8/12,Benign,\N,intron_variant,6.667,0.0469,1KG_AFR_AF,ESPN
1815,1:6510400:CCG>C,NM_031475.2:c.1915+1251_1915+1252del,\N,\N,8/12,Benign,\N,intron_variant,5.256,0.034,1KG_AFR_AF,ESPN
1816,1:6510401:C>T,NM_031475.2:c.1915+1250C>T,\N,\N,8/12,Unknown significance,\N,intron_variant,5.829,\N,\N,ESPN
1817,1:6510405:C>A,NM_031475.2:c.1915+1254C>A,\N,\N,8/12,Unknown significance,\N,intron_variant,3.795,\N,\N,ESPN
1818,1:6510406:G>A,NM_031475.2:c.1915+1255G>A,\N,\N,8/12,Unknown significance,\N,intron_variant,7.629,0.002,1KG_EAS_AF,ESPN
1819,1:6510419:C>T,NM_031475.2:c.1916-1244C>T,\N,\N,8/12,Unknown significance,\N,intron_variant,11.78,\N,\N,ESPN
1820,1:6510420:G>A,NM_031475.2:c.1916-1243G>A,\N,\N,8/12,Unknown significance,\N,intron_variant,9.626,0.001,1KG_EUR_AF,ESPN
1821,1:6510428:TC>T,NM_031475.2:c.1916-1231del,\N,\N,8/12,Unknown significance,\N,intron_variant,9.963,\N,\N,ESPN
1822,1:6510453:G>GC,NM_031475.2:c.1916-1203dup,\N,\N,8/12,Unknown significance,\N,intron_variant,\N,\N,\N,ESPN
1823,1:6510454:C>G,NM_031475.2:c.1916-1209C>G,\N,\N,8/12,Benign,\N,intron_variant,13.48,0.0461,1KG_AFR_AF,ESPN
1824,1:6510458:C>G,NM_031475.2:c.1916-1205C>G,\N,\N,8/12,Benign,\N,intron_variant,15.27,0.0397,1KG_EAS_AF,ESPN
1825,1:6510459:C>G,NM_031475.2:c.1916-1204C>G,\N,\N,8/12,Unknown significance,\N,intron_variant,14.75,0.002,1KG_SAS_AF,ESPN
1826,1:6510460:C>G,NM_031475.2:c.1916-1203C>G,\N,\N,8/12,Benign,\N,intron_variant,14.74,0.0061,1KG_SAS_AF,ESPN
1827,1:6510493:T>C,NM_031475.2:c.1916-1170T>C,\N,\N,8/12,Benign,\N,intron_variant,13.65,0.047,1KG_SAS_AF,ESPN
1828,1:6510546:C>T,NM_031475.2:c.1916-1117C>T,\N,\N,8/12,Unknown significance,\N,intron_variant,12.03,0.0014,1KG_AMR_AF,ESPN
1829,1:6510549:G>A,NM_031475.2:c.1916-1114G>A,\N,\N,8/12,Unknown significance,\N,intron_variant,13.55,0.001,1KG_SAS_AF,ESPN
1830,1:6510570:C>T,NM_031475.2:c.1916-1093C>T,\N,\N,8/12,Unknown significance,\N,intron_variant,9.307,0.001,1KG_EUR_AF,ESPN
1831,1:6510571:G>A,NM_031475.2:c.1916-1092G>A,\N,\N,8/12,Unknown significance,\N,intron_variant,8.827,0.001,1KG_EAS_AF,ESPN
1832,1:6510572:C>T,NM_031475.2:c.1916-1091C>T,\N,\N,8/12,Benign,\N,intron_variant,7.104,0.089,1KG_SAS_AF,ESPN
1833,1:6510573:G>A,NM_031475.2:c.1916-1090G>A,\N,\N,8/12,Benign,\N,intron_variant,7.394,0.0136,1KG_AFR_AF,ESPN
1834,1:6510578:G>C,NM_031475.2:c.1916-1085G>C,\N,\N,8/12,Unknown significance,\N,intron_variant,1.104,\N,\N,ESPN
1835,1:6510578:G>T,NM_031475.2:c.1916-1085G>T,\N,\N,8/12,Benign,\N,intron_variant,1.975,0.0393,1KG_AFR_AF,ESPN
1836,1:6510579:G>T,NM_031475.2:c.1916-1084G>T,\N,\N,8/12,Unknown significance,\N,intron_variant,5.442,0.001,1KG_EUR_AF,ESPN
1837,1:6510588:G>A,NM_031475.2:c.1916-1075G>A,\N,\N,8/12,Unknown significance,\N,intron_variant,6.473,0.003,1KG_AFR_AF,ESPN
1838,1:6510598:G>T,NM_031475.2:c.1916-1065G>T,\N,\N,8/12,Unknown significance,\N,intron_variant,3.849,\N,\N,ESPN
1839,1:6510628:AGGGCAG>A,NM_031475.2:c.1916-1024_1916-1019del,\N,\N,8/12,Unknown significance,\N,intron_variant,\N,\N,\N,ESPN
1840,1:6510664:G>A,NM_031475.2:c.1916-999G>A,\N,\N,8/12,Unknown significance,\N,intron_variant,0.407,0.0014,1KG_AMR_AF,ESPN
1841,1:6510666:A>T,NM_031475.2:c.1916-997A>T,\N,\N,8/12,Benign,\N,intron_variant,1.551,0.1278,1KG_AFR_AF,ESPN
1842,1:6510666:AGA>TGC,NM_031475.2:c.1916-997_1916-995delinsTGC,\N,\N,8/12,Unknown significance,\N,intron_variant,0.961,\N,\N,ESPN
1843,1:6510667:G>T,NM_031475.2:c.1916-996G>T,\N,\N,8/12,Unknown significance,\N,intron_variant,1.143,\N,\N,ESPN
1844,1:6510668:A>C,NM_031475.2:c.1916-995A>C,\N,\N,8/12,Benign,\N,intron_variant,1.179,0.1278,1KG_AFR_AF,ESPN
1845,1:6510703:T>G,NM_031475.2:c.1916-960T>G,\N,\N,8/12,Unknown significance,\N,intron_variant,6.6,0.0008,1KG_AFR_AF,ESPN
1846,1:6510706:C>T,NM_031475.2:c.1916-957C>T,\N,\N,8/12,Unknown significance,\N,intron_variant,9.219,0.001,1KG_SAS_AF,ESPN
1847,1:6510784:T>G,NM_031475.2:c.1916-879T>G,\N,\N,8/12,Benign,\N,intron_variant,5.34,0.0136,1KG_AFR_AF,ESPN
1848,1:6510791:A>T,NM_031475.2:c.1916-872A>T,\N,\N,8/12,Benign,\N,intron_variant,0.648,0.0079,1KG_EAS_AF,ESPN
1849,1:6510803:C>A,NM_031475.2:c.1916-860C>A,\N,\N,8/12,Unknown significance,\N,intron_variant,3.167,\N,\N,ESPN
1850,1:6510804:A>T,NM_031475.2:c.1916-859A>T,\N,\N,8/12,Unknown significance,\N,intron_variant,2.984,0.003,1KG_AFR_AF,ESPN
1851,1:6510806:C>G,NM_031475.2:c.1916-857C>G,\N,\N,8/12,Unknown significance,\N,intron_variant,0.933,0.002,1KG_SAS_AF,ESPN
1852,1:6510816:C>T,NM_031475.2:c.1916-847C>T,\N,\N,8/12,Unknown significance,\N,intron_variant,5.226,0.0008,1KG_AFR_AF,ESPN
1853,1:6510817:G>A,NM_031475.2:c.1916-846G>A,\N,\N,8/12,Unknown significance,\N,intron_variant,2.39,0.002,1KG_EAS_AF,ESPN
1854,1:6510853:C>T,NM_031475.2:c.1916-810C>T,\N,\N,8/12,Unknown significance,\N,intron_variant,11.33,\N,\N,ESPN
1855,1:6510881:C>G,NM_031475.2:c.1916-782C>G,\N,\N,8/12,Unknown significance,\N,intron_variant,5.684,\N,\N,ESPN
1856,1:6510893:T>C,NM_031475.2:c.1916-770T>C,\N,\N,8/12,Benign,\N,intron_variant,6.985,0.0755,1KG_EUR_AF,ESPN
1857,1:6510898:C>T,NM_031475.2:c.1916-765C>T,\N,\N,8/12,Benign,\N,intron_variant,9.797,0.0121,1KG_AFR_AF,ESPN
1858,1:6510905:C>T,NM_031475.2:c.1916-758C>T,\N,\N,8/12,Unknown significance,\N,intron_variant,7.222,0.0015,1KG_AFR_AF,ESPN
1859,1:6510981:G>C,NM_031475.2:c.1916-682G>C,\N,\N,8/12,Unknown significance,\N,intron_variant,3.965,\N,\N,ESPN
1860,1:6510982:G>T,NM_031475.2:c.1916-681G>T,\N,\N,8/12,Unknown significance,\N,intron_variant,0.703,\N,\N,ESPN
1861,1:6510997:T>C,NM_031475.2:c.1916-666T>C,\N,\N,8/12,Benign,\N,intron_variant,3.358,0.3094,1KG_AFR_AF,ESPN
1862,1:6511007:C>T,NM_031475.2:c.1916-656C>T,\N,\N,8/12,Unknown significance,\N,intron_variant,16.41,0.002,1KG_EUR_AF,ESPN
1863,1:6511036:G>A,NM_031475.2:c.1916-627G>A,\N,\N,8/12,Benign,\N,intron_variant,7.89,0.0076,1KG_AFR_AF,ESPN
1864,1:6511037:T>TA,NM_031475.2:c.1916-624dup,\N,\N,8/12,Unknown significance,\N,intron_variant,\N,\N,\N,ESPN
1865,1:6511059:C>A,NM_031475.2:c.1916-604C>A,\N,\N,8/12,Unknown significance,\N,intron_variant,10.34,0.001,1KG_EUR_AF,ESPN
1866,1:6511084:A>G,NM_031475.2:c.1916-579A>G,\N,\N,8/12,Benign,\N,intron_variant,1.75,0.7648,1KG_AFR_AF,ESPN
1867,1:6511095:C>T,NM_031475.2:c.1916-568C>T,\N,\N,8/12,Benign,\N,intron_variant,7.871,0.0393,1KG_AFR_AF,ESPN
1868,1:6511098:G>A,NM_031475.2:c.1916-565G>A,\N,\N,8/12,Unknown significance,\N,intron_variant,6.341,0.001,1KG_SAS_AF,ESPN
1869,1:6511113:T>C,NM_031475.2:c.1916-550T>C,\N,\N,8/12,Unknown significance,\N,intron_variant,2.079,0.0015,1KG_AFR_AF,ESPN
1870,1:6511126:ATCTG>A,NM_031475.2:c.1916-531_1916-528del,\N,\N,8/12,Unknown significance,\N,intron_variant,\N,\N,\N,ESPN
1871,1:6511186:C>T,NM_031475.2:c.1916-477C>T,\N,\N,8/12,Unknown significance,\N,intron_variant,8.679,0.0008,1KG_AFR_AF,ESPN
1872,1:6511201:T>C,NM_031475.2:c.1916-462T>C,\N,\N,8/12,Benign,\N,intron_variant,4.387,0.0189,1KG_AFR_AF,ESPN
1873,1:6511206:G>C,NM_031475.2:c.1916-457G>C,\N,\N,8/12,Unknown significance,\N,intron_variant,3.355,0.0014,1KG_AMR_AF,ESPN
1874,1:6511212:A>G,NM_031475.2:c.1916-451A>G,\N,\N,8/12,Unknown significance,\N,intron_variant,6.342,0.002,1KG_EUR_AF,ESPN
1875,1:6511222:T>C,NM_031475.2:c.1916-441T>C,\N,\N,8/12,Unknown significance,\N,intron_variant,12.7,\N,\N,ESPN
1876,1:6511231:C>T,NM_031475.2:c.1916-432C>T,\N,\N,8/12,Unknown significance,\N,intron_variant,15.36,\N,\N,ESPN
1877,1:6511252:G>C,NM_031475.2:c.1916-411G>C,\N,\N,8/12,Unknown significance,\N,intron_variant,9.465,0.0008,1KG_AFR_AF,ESPN
1878,1:6511276:AC>A,NM_031475.2:c.1916-383del,\N,\N,8/12,Unknown significance,\N,intron_variant,13.08,\N,\N,ESPN
1879,1:6511285:G>A,NM_031475.2:c.1916-378G>A,\N,\N,8/12,Unknown significance,\N,intron_variant,11.16,\N,\N,ESPN
1880,1:6511304:G>C,NM_031475.2:c.1916-359G>C,\N,\N,8/12,Unknown significance,\N,intron_variant,9.33,\N,\N,ESPN
1881,1:6511350:G>A,NM_031475.2:c.1916-313G>A,\N,\N,8/12,Unknown significance,\N,intron_variant,4.577,\N,\N,ESPN
1882,1:6511366:C>T,NM_031475.2:c.1916-297C>T,\N,\N,8/12,Unknown significance,\N,intron_variant,7.331,0.001,1KG_EUR_AF,ESPN
1883,1:6511367:G>A,NM_031475.2:c.1916-296G>A,\N,\N,8/12,Unknown significance,\N,intron_variant,7.935,0.0008,1KG_AFR_AF,ESPN
1884,1:6511375:AT>A,NM_031475.2:c.1916-287del,\N,\N,8/12,Unknown significance,\N,intron_variant,\N,\N,\N,ESPN
1885,1:6511428:C>A,NM_031475.2:c.1916-235C>A,\N,\N,8/12,Unknown significance,\N,intron_variant,8.969,\N,\N,ESPN
1886,1:6511439:G>T,NM_031475.2:c.1916-224G>T,\N,\N,8/12,Unknown significance,\N,intron_variant,4.047,\N,\N,ESPN
1887,1:6511489:C>T,NM_031475.2:c.1916-174C>T,\N,\N,8/12,Unknown significance,\N,intron_variant,5.357,\N,\N,ESPN
1888,1:6511538:C>T,NM_031475.2:c.1916-125C>T,\N,\N,8/12,Unknown significance,\N,intron_variant,5.987,\N,\N,ESPN
1889,1:6511546:C>T,NM_031475.2:c.1916-117C>T,\N,\N,8/12,Unknown significance,\N,intron_variant,6.158,0.0008,1KG_AFR_AF,ESPN
1890,1:6511547:G>A,NM_031475.2:c.1916-116G>A,\N,\N,8/12,Unknown significance,\N,intron_variant,1.663,0.0045,1KG_AFR_AF,ESPN
1891,1:6511554:G>A,NM_031475.2:c.1916-109G>A,\N,\N,8/12,Unknown significance,\N,intron_variant,5.777,\N,\N,ESPN
1892,1:6511560:C>G,NM_031475.2:c.1916-103C>G,\N,\N,8/12,Unknown significance,\N,intron_variant,7.154,0.001,1KG_SAS_AF,ESPN
1893,1:6511574:C>G,NM_031475.2:c.1916-89C>G,\N,\N,8/12,Unknown significance,\N,intron_variant,5.813,\N,\N,ESPN
1894,1:6511582:A>G,NM_031475.2:c.1916-81A>G,\N,\N,8/12,Benign,\N,intron_variant,1.777,0.7655,1KG_AFR_AF,ESPN
1895,1:6511582:AG>A,NM_031475.2:c.1916-77del,\N,\N,8/12,Benign,\N,intron_variant,3.092,0.0109,1KG_EAS_AF,ESPN
1896,1:6511608:G>A,NM_031475.2:c.1916-55G>A,\N,\N,8/12,Unknown significance,\N,intron_variant,5.142,0.001,1KG_EAS_AF,ESPN
1897,1:6511612:C>A,NM_031475.2:c.1916-51C>A,\N,\N,8/12,Unknown significance,\N,intron_variant,6.738,0.000227894,EVS_AA_AF,ESPN
1898,1:6511612:C>T,NM_031475.2:c.1916-51C>T,\N,\N,8/12,Unknown significance,\N,intron_variant,6.531,0.001,1KG_SAS_AF,ESPN
1899,1:6511617:A>G,NM_031475.2:c.1916-46A>G,\N,\N,8/12,Benign,\N,intron_variant,3.063,0.04,OTO_TR_AF,ESPN
1900,1:6511622:G>A,NM_031475.2:c.1916-41G>A,\N,\N,8/12,Unknown significance,\N,intron_variant,5.885,0.0000230617,EXAC_NFE_AF,ESPN
1901,1:6511624:C>A,NM_031475.2:c.1916-39C>A,\N,\N,8/12,Unknown significance,\N,intron_variant,8.062,0.000744934,EXAC_EAS_AF,ESPN
1902,1:6511626:C>G,NM_031475.2:c.1916-37C>G,\N,\N,8/12,Unknown significance,\N,intron_variant,1.821,0.000296296,EXAC_EAS_AF,ESPN
1903,1:6511627:A>C,NM_031475.2:c.1916-36A>C,\N,\N,8/12,Unknown significance,\N,intron_variant,4.932,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,ESPN
1904,1:6511638:T>C,NM_031475.2:c.1916-25T>C,\N,\N,8/12,Unknown significance,\N,intron_variant,3.509,0.00025113,EXAC_FIN_AF,ESPN
1905,1:6511646:C>A,NM_031475.2:c.1916-17C>A,\N,\N,8/12,Unknown significance,\N,intron_variant,11.11,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,ESPN
1906,1:6511652:C>A,NM_031475.2:c.1916-11C>A,\N,\N,8/12,Unknown significance,\N,intron_variant,12.41,\N,\N,ESPN
1907,1:6511653:C>T,NM_031475.2:c.1916-10C>T,\N,\N,8/12,Unknown significance,\N,intron_variant,9.044,\N,\N,ESPN
1908,1:6511656:C>T,NM_031475.2:c.1916-7C>T,\N,\N,8/12,Unknown significance,\N,splice_region_variant&intron_variant,1.083,0.000227066,EVS_AA_AF,ESPN
1909,1:6511657:G>A,NM_031475.2:c.1916-6G>A,\N,\N,8/12,Benign,\N,splice_region_variant&intron_variant,3.559,0.005,OTO_TR_AF,ESPN
1910,1:6511657:G>C,NM_031475.2:c.1916-6G>C,\N,\N,8/12,Unknown significance,\N,splice_region_variant&intron_variant,1.668,0.0000183325,EXAC_NFE_AF,ESPN
1911,1:6511661:A>G,NM_031475.2:c.1916-2A>G,\N,\N,8/12,Unknown significance,\N,splice_acceptor_variant,23.5,0.00019497,EXAC_AMR_AF,ESPN
1912,1:6511666:C>G,NM_031475.2:c.1919C>G,NP_113663.2:p.Thr640Ser,9/13,\N,Unknown significance,\N,missense_variant,23.4,0.0000958405,EXAC_AMR_AF,ESPN
1913,1:6511680:A>G,NM_031475.2:c.1933A>G,NP_113663.2:p.Met645Val,9/13,\N,Unknown significance,\N,missense_variant,23,0.000179019,EXAC_FIN_AF,ESPN
1914,1:6511683:A>G,NM_031475.2:c.1936A>G,NP_113663.2:p.Met646Val,9/13,\N,Unknown significance,\N,missense_variant,22.7,0.000113921,EXAC_AFR_AF,ESPN
1915,1:6511684:T>A,NM_031475.2:c.1937T>A,NP_113663.2:p.Met646Lys,9/13,\N,Unknown significance,\N,missense_variant,24,0.0000165273,EXAC_NFE_AF,ESPN
1916,1:6511690:C>T,NM_031475.2:c.1943C>T,NP_113663.2:p.Pro648Leu,9/13,\N,Unknown significance,\N,missense_variant,34,0.000196361,EXAC_SAS_AF,ESPN
1917,1:6511691:G>A,NM_031475.2:c.1944G>A,NP_113663.2:p.Pro648=,9/13,\N,Unknown significance,\N,synonymous_variant,14.2,0.0025,EXAC_OTH_AF,ESPN
1918,1:6511693:C>T,NM_031475.2:c.1946C>T,NP_113663.2:p.Thr649Met,9/13,\N,Unknown significance,\N,missense_variant,32,0.00011999,EXAC_EAS_AF,ESPN
1919,1:6511694:G>A,NM_031475.2:c.1947G>A,NP_113663.2:p.Thr649=,9/13,\N,Unknown significance,\N,synonymous_variant,14.62,0.000308562,EXAC_NFE_AF,ESPN
1920,1:6511694:G>T,NM_031475.2:c.1947G>T,NP_113663.2:p.Thr649=,9/13,\N,Unknown significance,\N,synonymous_variant,11.75,0.0000922169,EXAC_AMR_AF,ESPN
1921,1:6511697:C>T,NM_031475.2:c.1950C>T,NP_113663.2:p.Gly650=,9/13,\N,Benign,\N,synonymous_variant,18.99,0.00629278,EXAC_AFR_AF,ESPN
1922,1:6511698:G>A,NM_031475.2:c.1951G>A,NP_113663.2:p.Asp651Asn,9/13,\N,Unknown significance,\N,missense_variant,33,0.000129735,EXAC_SAS_AF,ESPN
1923,1:6511698:G>C,NM_031475.2:c.1951G>C,NP_113663.2:p.Asp651His,9/13,\N,Unknown significance,\N,missense_variant,29.4,0.0000161901,EXAC_NFE_AF,ESPN
1924,1:6511706:G>A,NM_031475.2:c.1959G>A,NP_113663.2:p.Ser653=,9/13,\N,Unknown significance,\N,synonymous_variant,14.1,0.000119446,EXAC_EAS_AF,ESPN
1925,1:6511707:G>A,NM_031475.2:c.1960G>A,NP_113663.2:p.Glu654Lys,9/13,\N,Unknown significance,\N,missense_variant,26.9,0.0000160772,EXAC_NFE_AF,ESPN
1926,1:6511709:G>A,NM_031475.2:c.1962G>A,NP_113663.2:p.Glu654=,9/13,\N,Unknown significance,\N,synonymous_variant,10.97,0.0000914913,EXAC_AMR_AF,ESPN
1927,1:6511710:C>T,NM_031475.2:c.1963C>T,NP_113663.2:p.Leu655=,9/13,\N,Unknown significance,\N,synonymous_variant,13.37,0.0000643915,EXAC_SAS_AF,ESPN
1928,1:6511712:A>G,NM_031475.2:c.1965A>G,NP_113663.2:p.Leu655=,9/13,\N,Unknown significance,\N,synonymous_variant,8.25,0.0000160395,EXAC_NFE_AF,ESPN
1929,1:6511713:C>T,NM_031475.2:c.1966C>T,NP_113663.2:p.Leu656=,9/13,\N,Unknown significance,\N,synonymous_variant,15.87,0.0008,1KG_AFR_AF,ESPN
1930,1:6511715:G>T,NM_031475.2:c.1968G>T,NP_113663.2:p.Leu656=,9/13,\N,Unknown significance,\N,synonymous_variant,8.72,0.0000160251,EXAC_NFE_AF,ESPN
1931,1:6511716:G>A,NM_031475.2:c.1969G>A,NP_113663.2:p.Ala657Thr,9/13,\N,Unknown significance,\N,missense_variant,31,0.000016019,EXAC_NFE_AF,ESPN
1932,1:6511734:AAGAG>A,NM_031475.2:c.1988_1991del,NP_113663.2:p.Lys663ThrfsTer2,9/13,\N,Pathogenic,Deafness and vestibular areflexia,frameshift_variant,35,\N,\N,ESPN
1933,1:6511747:C>T,NM_031475.2:c.2000C>T,NP_113663.2:p.Pro667Leu,9/13,\N,Unknown significance,\N,missense_variant,31,0.000344828,EXAC_FIN_AF,ESPN
1934,1:6511748:G>A,NM_031475.2:c.2001G>A,NP_113663.2:p.Pro667=,9/13,\N,Unknown significance,\N,synonymous_variant,1.831,0.000227066,EVS_AA_AF,ESPN
1935,1:6511750:C>T,NM_031475.2:c.2003C>T,NP_113663.2:p.Thr668Met,9/13,\N,Unknown significance,\N,missense_variant,27,0.0000639059,EXAC_SAS_AF,ESPN
1936,1:6511751:G>A,NM_031475.2:c.2004G>A,NP_113663.2:p.Thr668=,9/13,\N,Unknown significance,\N,synonymous_variant,9.872,0.000116279,EVS_EA_AF,ESPN
1937,1:6511753:C>T,NM_031475.2:c.2006C>T,NP_113663.2:p.Pro669Leu,9/13,\N,Unknown significance,\N,missense_variant,23.5,0.000289762,EXAC_NFE_AF,ESPN
1938,1:6511764:G>A,NM_031475.2:c.2017G>A,NP_113663.2:p.Gly673Arg,9/13,\N,Benign,\N,missense_variant,30,0.00625,OTO_CO_AF,ESPN
1939,1:6511771:CCA>C,NM_031475.2:c.2027_2028del,NP_113663.2:p.Thr676SerfsTer69,9/13,\N,Unknown significance,\N,frameshift_variant,32,0.0000162238,EXAC_NFE_AF,ESPN
1940,1:6511773:A>G,NM_031475.2:c.2026A>G,NP_113663.2:p.Thr676Ala,9/13,\N,Unknown significance,\N,missense_variant,22.5,\N,\N,ESPN
1941,1:6511774:C>G,NM_031475.2:c.2027C>G,NP_113663.2:p.Thr676Arg,9/13,\N,Benign,\N,missense_variant,26.7,0.00518807,EXAC_AMR_AF,ESPN
1942,1:6511776:G>A,NM_031475.2:c.2029G>A,NP_113663.2:p.Val677Met,9/13,\N,Unknown significance,\N,missense_variant,29.4,\N,\N,ESPN
1943,1:6511777:T>A,NM_031475.2:c.2030T>A,NP_113663.2:p.Val677Glu,9/13,\N,Unknown significance,\N,missense_variant,31,0.000121389,EXAC_EAS_AF,ESPN
1944,1:6511780:T>C,NM_031475.2:c.2033T>C,NP_113663.2:p.Phe678Ser,9/13,\N,Unknown significance,\N,missense_variant,29.1,0.001,1KG_EUR_AF,ESPN
1945,1:6511781:C>T,NM_031475.2:c.2034C>T,NP_113663.2:p.Phe678=,9/13,\N,Unknown significance,\N,synonymous_variant,15.92,0.000226963,EVS_AA_AF,ESPN
1946,1:6511790:C>G,NM_031475.2:c.2043C>G,NP_113663.2:p.Ile681Met,9/13,\N,Likely benign,\N,missense_variant,18.74,0.000226963,EVS_AA_AF,ESPN
1947,1:6511790:C>T,NM_031475.2:c.2043C>T,NP_113663.2:p.Ile681=,9/13,\N,Unknown significance,\N,synonymous_variant,16.66,0.0000663482,EXAC_NFE_AF,ESPN
1948,1:6511791:G>A,NM_031475.2:c.2044G>A,NP_113663.2:p.Gly682Arg,9/13,\N,Unknown significance,\N,missense_variant,24.9,0.00028169,EXAC_AMR_AF,ESPN
1949,1:6511791:G>C,NM_031475.2:c.2044G>C,NP_113663.2:p.Gly682Arg,9/13,\N,Unknown significance,\N,missense_variant,24.5,0.0000165942,EXAC_NFE_AF,ESPN
1950,1:6511791:G>T,NM_031475.2:c.2044G>T,NP_113663.2:p.Gly682Trp,9/13,\N,Unknown significance,\N,missense_variant,33,0.000182349,EXAC_FIN_AF,ESPN
1951,1:6511798:C>CGGCCTTCCAGGTAGGCGGGCCCAGCAGGA,NM_031475.2:c.2053_2061+20dup,\N,9/13,\N,Unknown significance,\N,frameshift_variant,28.8,\N,\N,ESPN
1952,1:6511798:C>T,NM_031475.2:c.2051C>T,NP_113663.2:p.Pro684Leu,9/13,\N,Likely benign,\N,missense_variant,24.1,\N,\N,ESPN
1953,1:6511799:G>A,NM_031475.2:c.2052G>A,NP_113663.2:p.Pro684=,9/13,\N,Unknown significance,\N,synonymous_variant,12.82,0.00013009,EXAC_SAS_AF,ESPN
1954,1:6511800:G>A,NM_031475.2:c.2053G>A,NP_113663.2:p.Ala685Thr,9/13,\N,Likely benign,\N,missense_variant,17.26,0.000187126,EXAC_FIN_AF,ESPN
1955,1:6511808:G>A,NM_031475.2:c.2061G>A,NP_113663.2:p.Gln687=,9/13,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,10.87,0.000500375,EXAC_EAS_AF,ESPN
1956,1:6511812:G>A,NM_031475.2:c.2061+4G>A,\N,\N,9/12,Unknown significance,\N,splice_region_variant&intron_variant,9.745,0.0000656082,EXAC_SAS_AF,ESPN
1957,1:6511814:C>T,NM_031475.2:c.2061+6C>T,\N,\N,9/12,Unknown significance,\N,splice_region_variant&intron_variant,10.64,0.0000659892,EXAC_SAS_AF,ESPN
1958,1:6511815:G>A,NM_031475.2:c.2061+7G>A,\N,\N,9/12,Benign,\N,splice_region_variant&intron_variant,8.217,0.0092,1KG_SAS_AF,ESPN
1959,1:6511823:C>T,NM_031475.2:c.2061+15C>T,\N,\N,9/12,Unknown significance,\N,intron_variant,3.616,0.0000176891,EXAC_NFE_AF,ESPN
1960,1:6511826:G>A,NM_031475.2:c.2061+18G>A,\N,\N,9/12,Benign,\N,intron_variant,2.296,0.00771803,EXAC_AFR_AF,ESPN
1961,1:6511830:CT>C,NM_031475.2:c.2061+23del,\N,\N,9/12,Unknown significance,\N,intron_variant,2.326,\N,\N,ESPN
1962,1:6511833:C>T,NM_031475.2:c.2061+25C>T,\N,\N,9/12,Unknown significance,\N,intron_variant,5.272,0.000134844,EXAC_SAS_AF,ESPN
1963,1:6511834:G>A,NM_031475.2:c.2061+26G>A,\N,\N,9/12,Unknown significance,\N,intron_variant,3.734,0.000131234,EXAC_EAS_AF,ESPN
1964,1:6511835:A>C,NM_031475.2:c.2061+27A>C,\N,\N,9/12,Unknown significance,\N,intron_variant,0.491,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,ESPN
1965,1:6511837:C>T,NM_031475.2:c.2061+29C>T,\N,\N,9/12,Unknown significance,\N,intron_variant,6.8,0.000116469,EVS_EA_AF,ESPN
1966,1:6511838:C>T,NM_031475.2:c.2061+30C>T,\N,\N,9/12,Unknown significance,\N,intron_variant,6.245,0.001,1KG_EAS_AF,ESPN
1967,1:6511839:G>A,NM_031475.2:c.2061+31G>A,\N,\N,9/12,Benign,\N,intron_variant,4.135,0.0058,1KG_AMR_AF,ESPN
1968,1:6511852:C>T,NM_031475.2:c.2062-41C>T,\N,\N,9/12,Unknown significance,\N,intron_variant,1.512,0.0000182822,EXAC_NFE_AF,ESPN
1969,1:6511856:G>A,NM_031475.2:c.2062-37G>A,\N,\N,9/12,Unknown significance,\N,intron_variant,1.179,0.0000552039,EXAC_NFE_AF,ESPN
1970,1:6511859:A>C,NM_031475.2:c.2062-34A>C,\N,\N,9/12,Unknown significance,\N,intron_variant,1.708,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,ESPN
1971,1:6511860:C>T,NM_031475.2:c.2062-33C>T,\N,\N,9/12,Unknown significance,\N,intron_variant,5.751,0.0000367945,EXAC_NFE_AF,ESPN
1972,1:6511861:C>T,NM_031475.2:c.2062-32C>T,\N,\N,9/12,Unknown significance,\N,intron_variant,5.3,0.000603379,EXAC_AMR_AF,ESPN
1973,1:6511862:G>A,NM_031475.2:c.2062-31G>A,\N,\N,9/12,Unknown significance,\N,intron_variant,3.946,0.0000184788,EXAC_NFE_AF,ESPN
1974,1:6511865:C>T,NM_031475.2:c.2062-28C>T,\N,\N,9/12,Unknown significance,\N,intron_variant,9.289,0.000132135,EXAC_EAS_AF,ESPN
1975,1:6511866:G>A,NM_031475.2:c.2062-27G>A,\N,\N,9/12,Unknown significance,\N,intron_variant,6.276,0.0000368677,EXAC_NFE_AF,ESPN
1976,1:6511870:A>G,NM_031475.2:c.2062-23A>G,\N,\N,9/12,Unknown significance,\N,intron_variant,9.514,0.001,1KG_EUR_AF,ESPN
1977,1:6511876:A>C,NM_031475.2:c.2062-17A>C,\N,\N,9/12,Unknown significance,\N,intron_variant,7.486,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,ESPN
1978,1:6511878:C>T,NM_031475.2:c.2062-15C>T,\N,\N,9/12,Unknown significance,\N,intron_variant,10.31,0.000272554,EXAC_AFR_AF,ESPN
1979,1:6511879:G>A,NM_031475.2:c.2062-14G>A,\N,\N,9/12,Unknown significance,\N,intron_variant,10.6,0.00424929,EXAC_OTH_AF,ESPN
1980,1:6511888:T>C,NM_031475.2:c.2062-5T>C,\N,\N,9/12,Unknown significance,\N,splice_region_variant&intron_variant,8.32,0.000136091,EXAC_AFR_AF,ESPN
1981,1:6511895:C>T,NM_031475.2:c.2064C>T,NP_113663.2:p.Pro688=,10/13,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,0.324,0.000206469,EXAC_SAS_AF,ESPN
1982,1:6511896:G>A,NM_031475.2:c.2065G>A,NP_113663.2:p.Asp689Asn,10/13,\N,Likely benign,\N,missense_variant,20.5,0.00011636,EVS_EA_AF,ESPN
1983,1:6511897:A>C,NM_031475.2:c.2066A>C,NP_113663.2:p.Asp689Ala,10/13,\N,Unknown significance,\N,missense_variant,13.47,0.00011636,EVS_EA_AF,ESPN
1984,1:6511900:C>T,NM_031475.2:c.2069C>T,NP_113663.2:p.Ser690Leu,10/13,\N,Likely benign,\N,missense_variant,10.43,0.001,1KG_EAS_AF,ESPN
1985,1:6511901:G>A,NM_031475.2:c.2070G>A,NP_113663.2:p.Ser690=,10/13,\N,Benign,\N,synonymous_variant,2.327,0.02,OTO_TR_AF,ESPN
1986,1:6511902:C>T,NM_031475.2:c.2071C>T,NP_113663.2:p.Pro691Ser,10/13,\N,Likely benign,\N,missense_variant,13.74,0.000275444,EXAC_SAS_AF,ESPN
1987,1:6511903:C>T,NM_031475.2:c.2072C>T,NP_113663.2:p.Pro691Leu,10/13,\N,Unknown significance,\N,missense_variant,12.25,0.000128766,EXAC_EAS_AF,ESPN
1988,1:6511907:G>A,NM_031475.2:c.2076G>A,NP_113663.2:p.Leu692=,10/13,\N,Unknown significance,\N,synonymous_variant,0.172,0.001,1KG_EAS_AF,ESPN
1989,1:6511911:T>C,NM_031475.2:c.2080T>C,NP_113663.2:p.Ser694Pro,10/13,\N,Likely benign,\N,missense_variant,0.004,0.000127747,EXAC_EAS_AF,ESPN
1990,1:6511918:C>T,NM_031475.2:c.2087C>T,NP_113663.2:p.Ser696Leu,10/13,\N,Likely benign,\N,missense_variant,11.77,\N,\N,ESPN
1991,1:6511919:A>C,NM_031475.2:c.2088A>C,NP_113663.2:p.Ser696=,10/13,\N,Unknown significance,\N,synonymous_variant,0.002,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,ESPN
1992,1:6511924:C>A,NM_031475.2:c.2093C>A,NP_113663.2:p.Ala698Glu,10/13,\N,Unknown significance,\N,missense_variant,17.11,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,ESPN
1993,1:6511926:C>A,NM_031475.2:c.2095C>A,NP_113663.2:p.Leu699Met,10/13,\N,Likely benign,\N,missense_variant,8.524,0.000128601,EXAC_EAS_AF,ESPN
1994,1:6511930:C>T,NM_031475.2:c.2099C>T,NP_113663.2:p.Ser700Leu,10/13,\N,Likely benign,\N,missense_variant,21.2,\N,\N,ESPN
1995,1:6511935:G>A,NM_031475.2:c.2104G>A,NP_113663.2:p.Val702Ile,10/13,\N,Likely benign,\N,missense_variant,14.96,0.000018352,EXAC_NFE_AF,ESPN
1996,1:6511938:C>T,NM_031475.2:c.2107C>T,NP_113663.2:p.Arg703Trp,10/13,\N,Unknown significance,\N,missense_variant,23.9,0.000130548,EXAC_EAS_AF,ESPN
1997,1:6511939:G>A,NM_031475.2:c.2108G>A,NP_113663.2:p.Arg703Gln,10/13,\N,Likely benign,\N,missense_variant,18.53,0.000130344,EXAC_AFR_AF,ESPN
1998,1:6511945:C>A,NM_031475.2:c.2114C>A,NP_113663.2:p.Pro705His,10/13,\N,Unknown significance,\N,missense_variant,26.2,\N,\N,ESPN
1999,1:6511946:C>G,NM_031475.2:c.2115C>G,NP_113663.2:p.Pro705=,10/13,\N,Unknown significance,\N,synonymous_variant,6.609,0.000281928,EXAC_SAS_AF,ESPN
2000,1:6511949:A>C,NM_031475.2:c.2118A>C,NP_113663.2:p.Thr706=,10/13,\N,Unknown significance,\N,synonymous_variant,0.002,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,ESPN
2001,1:6511951:C>T,NM_031475.2:c.2120C>T,NP_113663.2:p.Pro707Leu,10/13,\N,Unknown significance,\N,missense_variant,23.7,0.001,1KG_EAS_AF,ESPN
2002,1:6511952:G>A,NM_031475.2:c.2121G>A,NP_113663.2:p.Pro707=,10/13,\N,Unknown significance,\N,synonymous_variant,7.546,0.00039883,EXAC_AFR_AF,ESPN
2003,1:6511953:C>T,NM_031475.2:c.2122C>T,NP_113663.2:p.Pro708Ser,10/13,\N,Likely benign,\N,missense_variant,18.36,0.0008,1KG_AFR_AF,ESPN
2004,1:6511958:T>C,NM_031475.2:c.2127T>C,NP_113663.2:p.Ala709=,10/13,\N,Unknown significance,\N,synonymous_variant,0.102,0.000132275,EXAC_EAS_AF,ESPN
2005,1:6511960:C>T,NM_031475.2:c.2129C>T,NP_113663.2:p.Ala710Val,10/13,\N,Likely benign,\N,missense_variant,11.84,0.000132873,EXAC_AFR_AF,ESPN
2006,1:6511960:C>A,NM_031475.2:c.2129C>A,NP_113663.2:p.Ala710Glu,10/13,\N,Likely benign,\N,missense_variant,19.26,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,ESPN
2007,1:6511961:G>T,NM_031475.2:c.2130G>T,NP_113663.2:p.Ala710=,10/13,\N,Unknown significance,\N,synonymous_variant,5.646,0.000396406,EXAC_AFR_AF,ESPN
2008,1:6511963:G>T,NM_031475.2:c.2132G>T,NP_113663.2:p.Gly711Val,10/13,\N,Unknown significance,\N,missense_variant,23.5,0.000104102,EXAC_AMR_AF,ESPN
2009,1:6511965:T>G,NM_031475.2:c.2134T>G,NP_113663.2:p.Phe712Val,10/13,\N,Likely benign,\N,missense_variant,0.003,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,ESPN
2010,1:6511972:C>T,NM_031475.2:c.2141C>T,NP_113663.2:p.Pro714Leu,10/13,\N,Unknown significance,\N,missense_variant,27.4,0.0000719632,EXAC_SAS_AF,ESPN
2011,1:6511973:G>A,NM_031475.2:c.2142G>A,NP_113663.2:p.Pro714=,10/13,\N,Unknown significance,\N,synonymous_variant,5.146,0.000116279,EVS_EA_AF,ESPN
2012,1:6511981:ATGGAAGC>A,NM_031475.2:c.2152_2158del,NP_113663.2:p.Gly718TrpfsTer38,10/13,\N,Unknown significance,\N,frameshift_variant,35,\N,\N,ESPN
2013,1:6511984:G>T,NM_031475.2:c.2153G>T,NP_113663.2:p.Gly718Val,10/13,\N,Unknown significance,\N,missense_variant,25.2,0.001,1KG_EAS_AF,ESPN
2014,1:6511986:A>C,NM_031475.2:c.2155A>C,NP_113663.2:p.Ser719Arg,10/13,\N,Pathogenic,Hearing loss| autosomal dominant,missense_variant,24.1,0.000019428,EXAC_NFE_AF,ESPN
2015,1:6511992:G>A,NM_031475.2:c.2161G>A,NP_113663.2:p.Val721Ile,10/13,\N,Likely benign,\N,missense_variant,8.372,0.000073185,EXAC_SAS_AF,ESPN
2016,1:6511996:C>A,NM_031475.2:c.2165C>A,NP_113663.2:p.Pro722His,10/13,\N,Unknown significance,\N,missense_variant,23.8,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,ESPN
2017,1:6511997:C>G,NM_031475.2:c.2166C>G,NP_113663.2:p.Pro722=,10/13,\N,Unknown significance,\N,synonymous_variant,8.703,0.0000735402,EXAC_SAS_AF,ESPN
2018,1:6511998:G>A,NM_031475.2:c.2167G>A,NP_113663.2:p.Val723Met,10/13,\N,Likely benign,\N,missense_variant,14.96,0.001,1KG_EAS_AF,ESPN
2019,1:6511998:G>C,NM_031475.2:c.2167G>C,NP_113663.2:p.Val723Leu,10/13,\N,Likely benign,\N,missense_variant,7.211,0.000227066,EVS_AA_AF,ESPN
2020,1:6512002:C>T,NM_031475.2:c.2171C>T,NP_113663.2:p.Pro724Leu,10/13,\N,Likely benign,\N,missense_variant,23.4,0.000417827,EXAC_EAS_AF,ESPN
2021,1:6512003:G>A,NM_031475.2:c.2172G>A,NP_113663.2:p.Pro724=,10/13,\N,Unknown significance,\N,synonymous_variant,3.981,0.000273299,EXAC_AFR_AF,ESPN
2022,1:6512007:A>G,NM_031475.2:c.2176A>G,NP_113663.2:p.Thr726Ala,10/13,\N,Likely benign,\N,missense_variant,0.002,0.001,1KG_EUR_AF,ESPN
2023,1:6512010:A>C,NM_031475.2:c.2179A>C,NP_113663.2:p.Thr727Pro,10/13,\N,Unknown significance,\N,missense_variant,22.6,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,ESPN
2024,1:6512017:C>A,NM_031475.2:c.2186C>A,NP_113663.2:p.Ala729Glu,10/13,\N,Unknown significance,\N,missense_variant,28,0.000102978,EXAC_NFE_AF,ESPN
2025,1:6512020:C>T,NM_031475.2:c.2189C>T,NP_113663.2:p.Pro730Leu,10/13,\N,Likely benign,\N,missense_variant,25.3,0.0014,1KG_AMR_AF,ESPN
2026,1:6512021:G>A,NM_031475.2:c.2190G>A,NP_113663.2:p.Pro730=,10/13,\N,Unknown significance,\N,synonymous_variant,4.805,0.0008,1KG_AFR_AF,ESPN
2027,1:6512025:G>GGT,NM_031475.2:c.2194_2195insGT,NP_113663.2:p.Val732GlyfsTer27,10/13,\N,Unknown significance,\N,frameshift_variant,29,\N,\N,ESPN
2028,1:6512026:TGC>T,NM_031475.2:c.2196_2197del,NP_113663.2:p.Gln733AlafsTer12,10/13,\N,Unknown significance,\N,frameshift_variant,34,\N,\N,ESPN
2029,1:6512026:T>G,NM_031475.2:c.2195T>G,NP_113663.2:p.Val732Gly,10/13,\N,Likely benign,\N,missense_variant,22.4,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,ESPN
2030,1:6512032:T>C,NM_031475.2:c.2201T>C,NP_113663.2:p.Leu734Pro,10/13,\N,Unknown significance,\N,missense_variant,23.8,0.0000657981,EXAC_NFE_AF,ESPN
2031,1:6512036:C>G,NM_031475.2:c.2205C>G,NP_113663.2:p.Asp735Glu,10/13,\N,Unknown significance,\N,missense_variant,23.7,0.0000225012,EXAC_NFE_AF,ESPN
2032,1:6512036:C>T,NM_031475.2:c.2205C>T,NP_113663.2:p.Asp735=,10/13,\N,Unknown significance,\N,synonymous_variant,13.78,0.001,1KG_EUR_AF,ESPN
2033,1:6512037:G>A,NM_031475.2:c.2206G>A,NP_113663.2:p.Val736Met,10/13,\N,Unknown significance,\N,missense_variant,28.2,0.000249626,EXAC_AMR_AF,ESPN
2034,1:6512040:G>C,NM_031475.2:c.2209G>C,NP_113663.2:p.Glu737Gln,10/13,\N,Unknown significance,\N,missense_variant,26.5,0.0000229484,EXAC_NFE_AF,ESPN
2035,1:6512043:GCT>G,NM_031475.2:c.2216_2217del,NP_113663.2:p.Leu739HisfsTer6,10/13,\N,Unknown significance,\N,frameshift_variant,35,0.0000233536,EXAC_NFE_AF,ESPN
2036,1:6512044:C>G,NM_031475.2:c.2213C>G,NP_113663.2:p.Ala738Gly,10/13,\N,Likely benign,\N,missense_variant,22.6,0.0000806322,EXAC_SAS_AF,ESPN
2037,1:6512046:C>G,NM_031475.2:c.2215C>G,NP_113663.2:p.Leu739Val,10/13,\N,Unknown significance,\N,missense_variant,22.9,0.00012047,EXAC_NFE_AF,ESPN
2038,1:6512054:C>T,NM_031475.2:c.2223C>T,NP_113663.2:p.Pro741=,10/13,\N,Unknown significance,\N,synonymous_variant,11.57,\N,\N,ESPN
2039,1:6512056:C>T,NM_031475.2:c.2225C>T,NP_113663.2:p.Thr742Met,10/13,\N,Unknown significance,\N,missense_variant,28.2,0.000544267,EXAC_EAS_AF,ESPN
2040,1:6512057:G>A,NM_031475.2:c.2226G>A,NP_113663.2:p.Thr742=,10/13,\N,Unknown significance,\N,synonymous_variant,10.92,0.000458856,EXAC_AMR_AF,ESPN
2041,1:6512058:C>T,NM_031475.2:c.2227C>T,NP_113663.2:p.His743Tyr,10/13,\N,Likely pathogenic,Schizophrenia,missense_variant,18.4,\N,\N,ESPN
2042,1:6512060:C>T,NM_031475.2:c.2229C>T,NP_113663.2:p.His743=,10/13,\N,Unknown significance,\N,synonymous_variant,14.63,0.000465224,EVS_EA_AF,ESPN
2043,1:6512061:G>A,NM_031475.2:c.2230G>A,NP_113663.2:p.Asp744Asn,10/13,\N,Pathogenic,Hearing loss| autosomal dominant,missense_variant,34,0.000603136,EXAC_NFE_AF,ESPN
2044,1:6512061:G>T,NM_031475.2:c.2230G>T,NP_113663.2:p.Asp744Tyr,10/13,\N,Unknown significance,\N,missense_variant,32,0.0000548306,EXAC_NFE_AF,ESPN
2045,1:6512062:A>G,NM_031475.2:c.2231A>G,NP_113663.2:p.Asp744Gly,10/13,\N,Unknown significance,\N,missense_variant,29.4,0.0000546418,EXAC_NFE_AF,ESPN
2046,1:6512070:G>A,NM_031475.2:c.2239G>A,NP_113663.2:p.Gly747Ser,10/13,\N,Unknown significance,\N,missense_variant,33,0.00194553,EXAC_OTH_AF,ESPN
2047,1:6512074:G>A,NM_031475.2:c.2243G>A,NP_113663.2:p.Arg748Gln,10/13,\N,Unknown significance,\N,missense_variant,34,0.000274826,EXAC_SAS_AF,ESPN
2048,1:6512084:C>G,NM_031475.2:c.2253C>G,NP_113663.2:p.Pro751=,10/13,\N,Unknown significance,\N,synonymous_variant,13.27,0.000273096,EXAC_NFE_AF,ESPN
2049,1:6512084:C>T,NM_031475.2:c.2253C>T,NP_113663.2:p.Pro751=,10/13,\N,Unknown significance,\N,synonymous_variant,16.12,0.0000390137,EXAC_NFE_AF,ESPN
2050,1:6512085:G>A,NM_031475.2:c.2254G>A,NP_113663.2:p.Glu752Lys,10/13,\N,Unknown significance,\N,missense_variant,34,0.000229674,EXAC_AFR_AF,ESPN
2051,1:6512085:G>C,NM_031475.2:c.2254G>C,NP_113663.2:p.Glu752Gln,10/13,\N,Unknown significance,\N,missense_variant,30,0.00009802,EXAC_SAS_AF,ESPN
2052,1:6512085:G>T,NM_031475.2:c.2254G>T,NP_113663.2:p.Glu752Ter,10/13,\N,Unknown significance,\N,stop_gained,48,0.000039265,EXAC_NFE_AF,ESPN
2053,1:6512087:G>A,NM_031475.2:c.2256G>A,NP_113663.2:p.Glu752=,10/13,\N,Unknown significance,\N,synonymous_variant,10.53,0.000116414,EVS_EA_AF,ESPN
2054,1:6512094:C>T,NM_031475.2:c.2263C>T,NP_113663.2:p.Arg755Cys,10/13,\N,Unknown significance,\N,missense_variant,35,0.000253807,EXAC_AFR_AF,ESPN
2055,1:6512095:G>A,NM_031475.2:c.2264G>A,NP_113663.2:p.Arg755His,10/13,\N,Unknown significance,\N,missense_variant,34,0.000310945,EXAC_AMR_AF,ESPN
2056,1:6512097:C>G,NM_031475.2:c.2266C>G,NP_113663.2:p.Gln756Glu,10/13,\N,Unknown significance,\N,missense_variant,26.9,0.0000924129,EXAC_NFE_AF,ESPN
2057,1:6512101:T>G,NM_031475.2:c.2270T>G,NP_113663.2:p.Val757Gly,10/13,\N,Unknown significance,\N,missense_variant,28.4,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,ESPN
2058,1:6512106:G>A,NM_031475.2:c.2275G>A,NP_113663.2:p.Val759Met,10/13,\N,Unknown significance,\N,missense_variant,32,0.00432277,EXAC_FIN_AF,ESPN
2059,1:6512109:C>G,NM_031475.2:c.2278C>G,NP_113663.2:p.Arg760Gly,10/13,\N,Unknown significance,\N,missense_variant,25.3,\N,\N,ESPN
2060,1:6512109:C>T,NM_031475.2:c.2278C>T,NP_113663.2:p.Arg760Cys,10/13,\N,Unknown significance,\N,missense_variant,35,0.000457038,EXAC_EAS_AF,ESPN
2061,1:6512110:G>A,NM_031475.2:c.2279G>A,NP_113663.2:p.Arg760His,10/13,\N,Unknown significance,\N,missense_variant,34,0.000632911,EXAC_AFR_AF,ESPN
2062,1:6512115:A>T,NM_031475.2:c.2284A>T,NP_113663.2:p.Met762Leu,10/13,\N,Likely benign,\N,missense_variant,5.903,0.0045,1KG_AFR_AF,ESPN
2063,1:6512133:G>C,NM_031475.2:c.2302G>C,NP_113663.2:p.Glu768Gln,10/13,\N,Unknown significance,\N,missense_variant,26.9,\N,\N,ESPN
2064,1:6512151:C>T,NM_031475.2:c.2320C>T,NP_113663.2:p.Arg774Trp,10/13,\N,Unknown significance,\N,missense_variant,27.4,0.001,1KG_SAS_AF,ESPN
2065,1:6512152:G>A,NM_031475.2:c.2321G>A,NP_113663.2:p.Arg774Gln,10/13,\N,Pathogenic,Hearing loss| autosomal dominant,missense_variant,34,\N,\N,ESPN
2066,1:6512159:G>A,NM_031475.2:c.2325+3G>A,\N,\N,10/12,Unknown significance,\N,splice_region_variant&intron_variant,15.11,0.000169895,EXAC_SAS_AF,ESPN
2067,1:6512167:C>T,NM_031475.2:c.2325+11C>T,\N,\N,10/12,Unknown significance,\N,intron_variant,6.391,0.000178444,EXAC_SAS_AF,ESPN
2068,1:6512168:G>A,NM_031475.2:c.2325+12G>A,\N,\N,10/12,Unknown significance,\N,intron_variant,4.688,0.001,1KG_EUR_AF,ESPN
2069,1:6512171:G>C,NM_031475.2:c.2325+15G>C,\N,\N,10/12,Unknown significance,\N,intron_variant,1.713,0.000146456,EXAC_NFE_AF,ESPN
2070,1:6512234:C>A,NM_031475.2:c.2325+78C>A,\N,\N,10/12,Unknown significance,\N,intron_variant,3.799,\N,\N,ESPN
2071,1:6512245:G>A,NM_031475.2:c.2325+89G>A,\N,\N,10/12,Benign,\N,intron_variant,2.252,0.0378,1KG_AFR_AF,ESPN
2072,1:6512274:T>C,NM_031475.2:c.2325+118T>C,\N,\N,10/12,Benign,\N,intron_variant,2.115,0.0098,1KG_AFR_AF,ESPN
2073,1:6512304:G>A,NM_031475.2:c.2325+148G>A,\N,\N,10/12,Benign,\N,intron_variant,0.67,0.0133,1KG_SAS_AF,ESPN
2074,1:6512305:C>T,NM_031475.2:c.2325+149C>T,\N,\N,10/12,Unknown significance,\N,intron_variant,6.637,0.0008,1KG_AFR_AF,ESPN
2075,1:6512324:G>C,NM_031475.2:c.2325+168G>C,\N,\N,10/12,Unknown significance,\N,intron_variant,1.135,\N,\N,ESPN
2076,1:6512328:G>A,NM_031475.2:c.2325+172G>A,\N,\N,10/12,Unknown significance,\N,intron_variant,2.911,0.0015,1KG_AFR_AF,ESPN
2077,1:6512331:C>A,NM_031475.2:c.2325+175C>A,\N,\N,10/12,Unknown significance,\N,intron_variant,5.915,0.003,1KG_EUR_AF,ESPN
2078,1:6512333:C>T,NM_031475.2:c.2325+177C>T,\N,\N,10/12,Unknown significance,\N,intron_variant,1.731,0.0031,1KG_SAS_AF,ESPN
2079,1:6512352:C>T,NM_031475.2:c.2325+196C>T,\N,\N,10/12,Unknown significance,\N,intron_variant,6.404,\N,\N,ESPN
2080,1:6512360:G>A,NM_031475.2:c.2325+204G>A,\N,\N,10/12,Unknown significance,\N,intron_variant,1.359,\N,\N,ESPN
2081,1:6512380:T>G,NM_031475.2:c.2325+224T>G,\N,\N,10/12,Unknown significance,\N,intron_variant,7.336,\N,\N,ESPN
2082,1:6512386:T>C,NM_031475.2:c.2325+230T>C,\N,\N,10/12,Benign,\N,intron_variant,5.848,0.0204,1KG_SAS_AF,ESPN
2083,1:6512392:G>A,NM_031475.2:c.2325+236G>A,\N,\N,10/12,Unknown significance,\N,intron_variant,3.215,\N,\N,ESPN
2084,1:6512393:T>C,NM_031475.2:c.2325+237T>C,\N,\N,10/12,Unknown significance,\N,intron_variant,4.088,\N,\N,ESPN
2085,1:6512420:A>G,NM_031475.2:c.2325+264A>G,\N,\N,10/12,Unknown significance,\N,intron_variant,5.608,\N,\N,ESPN
2086,1:6512422:G>T,NM_031475.2:c.2325+266G>T,\N,\N,10/12,Unknown significance,\N,intron_variant,0.391,\N,\N,ESPN
2087,1:6512480:C>G,NM_031475.2:c.2325+324C>G,\N,\N,10/12,Unknown significance,\N,intron_variant,7.301,\N,\N,ESPN
2088,1:6512504:G>A,NM_031475.2:c.2325+348G>A,\N,\N,10/12,Unknown significance,\N,intron_variant,2.073,0.004,1KG_EAS_AF,ESPN
2089,1:6512510:G>C,NM_031475.2:c.2325+354G>C,\N,\N,10/12,Benign,\N,intron_variant,0.142,0.0061,1KG_SAS_AF,ESPN
2090,1:6512547:T>C,NM_031475.2:c.2325+391T>C,\N,\N,10/12,Benign,\N,intron_variant,2.809,0.8404,1KG_AFR_AF,ESPN
2091,1:6512572:C>A,NM_031475.2:c.2325+416C>A,\N,\N,10/12,Unknown significance,\N,intron_variant,5.119,0.0008,1KG_AFR_AF,ESPN
2092,1:6512635:C>T,NM_031475.2:c.2325+479C>T,\N,\N,10/12,Benign,\N,intron_variant,0.995,0.0121,1KG_AFR_AF,ESPN
2093,1:6512659:A>G,NM_031475.2:c.2325+503A>G,\N,\N,10/12,Unknown significance,\N,intron_variant,3.394,0.002,1KG_EAS_AF,ESPN
2094,1:6512672:G>C,NM_031475.2:c.2325+516G>C,\N,\N,10/12,Unknown significance,\N,intron_variant,0.034,0.001,1KG_EAS_AF,ESPN
2095,1:6512691:G>A,NM_031475.2:c.2325+535G>A,\N,\N,10/12,Unknown significance,\N,intron_variant,1.755,0.0015,1KG_AFR_AF,ESPN
2096,1:6512703:C>CT,NM_031475.2:c.2325+547_2325+548insT,\N,\N,10/12,Unknown significance,\N,intron_variant,4.145,0.0038,1KG_AFR_AF,ESPN
2097,1:6512717:G>C,NM_031475.2:c.2325+561G>C,\N,\N,10/12,Unknown significance,\N,intron_variant,1.569,0.001,1KG_SAS_AF,ESPN
2098,1:6512742:G>T,NM_031475.2:c.2325+586G>T,\N,\N,10/12,Benign,\N,intron_variant,2.069,0.1589,1KG_AFR_AF,ESPN
2099,1:6512754:A>G,NM_031475.2:c.2325+598A>G,\N,\N,10/12,Unknown significance,\N,intron_variant,5.158,\N,\N,ESPN
2100,1:6512857:TCA>T,NM_031475.2:c.2325+702_2325+703del,\N,\N,10/12,Unknown significance,\N,intron_variant,\N,\N,\N,ESPN
2101,1:6512867:T>C,NM_031475.2:c.2325+711T>C,\N,\N,10/12,Unknown significance,\N,intron_variant,2.307,0.001,1KG_EUR_AF,ESPN
2102,1:6512903:G>A,NM_031475.2:c.2325+747G>A,\N,\N,10/12,Unknown significance,\N,intron_variant,6.597,0.0008,1KG_AFR_AF,ESPN
2103,1:6512933:A>G,NM_031475.2:c.2325+777A>G,\N,\N,10/12,Benign,\N,intron_variant,0.671,0.0072,1KG_SAS_AF,ESPN
2104,1:6512942:A>C,NM_031475.2:c.2325+786A>C,\N,\N,10/12,Unknown significance,\N,intron_variant,0.321,\N,\N,ESPN
2105,1:6512951:A>ATTTTTAT,NM_031475.2:c.2325+808_2325+814dup,\N,\N,10/12,Unknown significance,\N,intron_variant,\N,\N,\N,ESPN
2106,1:6512958:T>A,NM_031475.2:c.2325+802T>A,\N,\N,10/12,Unknown significance,\N,intron_variant,2.987,\N,\N,ESPN
2107,1:6512964:A>ATTTTTTT,NM_031475.2:c.2325+814_2325+815insTTTTTTT,\N,\N,10/12,Benign,\N,intron_variant,0.065,0.6505,1KG_AFR_AF,ESPN
2108,1:6512964:A>T,NM_031475.2:c.2325+808A>T,\N,\N,10/12,Unknown significance,\N,intron_variant,0.183,\N,\N,ESPN
2109,1:6512965:T>A,NM_031475.2:c.2325+809T>A,\N,\N,10/12,Unknown significance,\N,intron_variant,1.901,\N,\N,ESPN
2110,1:6513101:C>T,NM_031475.2:c.2325+945C>T,\N,\N,10/12,Unknown significance,\N,intron_variant,1.957,0.0008,1KG_AFR_AF,ESPN
2111,1:6513174:G>C,NM_031475.2:c.2325+1018G>C,\N,\N,10/12,Unknown significance,\N,intron_variant,0.891,0.001,1KG_EAS_AF,ESPN
2112,1:6513196:C>T,NM_031475.2:c.2325+1040C>T,\N,\N,10/12,Unknown significance,\N,intron_variant,3.535,\N,\N,ESPN
2113,1:6513197:G>A,NM_031475.2:c.2325+1041G>A,\N,\N,10/12,Unknown significance,\N,intron_variant,1.384,\N,\N,ESPN
2114,1:6513200:T>C,NM_031475.2:c.2325+1044T>C,\N,\N,10/12,Unknown significance,\N,intron_variant,0.464,\N,\N,ESPN
2115,1:6513208:C>CGGG,NM_031475.2:c.2325+1052_2325+1053insGGG,\N,\N,10/12,Benign,\N,intron_variant,6.976,0.0086,1KG_AMR_AF,ESPN
2116,1:6513209:C>A,NM_031475.2:c.2325+1053C>A,\N,\N,10/12,Benign,\N,intron_variant,6.142,0.0086,1KG_AMR_AF,ESPN
2117,1:6513219:G>T,NM_031475.2:c.2325+1063G>T,\N,\N,10/12,Unknown significance,\N,intron_variant,5.069,\N,\N,ESPN
2118,1:6513252:C>T,NM_031475.2:c.2325+1096C>T,\N,\N,10/12,Benign,\N,intron_variant,4.288,0.0121,1KG_AFR_AF,ESPN
2119,1:6513298:A>G,NM_031475.2:c.2325+1142A>G,\N,\N,10/12,Unknown significance,\N,intron_variant,6.15,\N,\N,ESPN
2120,1:6513348:T>A,NM_031475.2:c.2325+1192T>A,\N,\N,10/12,Unknown significance,\N,intron_variant,3.961,0.0014,1KG_AMR_AF,ESPN
2121,1:6513377:G>C,NM_031475.2:c.2325+1221G>C,\N,\N,10/12,Unknown significance,\N,intron_variant,0.187,\N,\N,ESPN
2122,1:6513388:G>C,NM_031475.2:c.2325+1232G>C,\N,\N,10/12,Benign,\N,intron_variant,0.346,0.0121,1KG_AFR_AF,ESPN
2123,1:6513450:C>T,NM_031475.2:c.2325+1294C>T,\N,\N,10/12,Unknown significance,\N,intron_variant,5.247,\N,\N,ESPN
2124,1:6513451:G>T,NM_031475.2:c.2325+1295G>T,\N,\N,10/12,Benign,\N,intron_variant,0.043,0.047,1KG_SAS_AF,ESPN
2125,1:6513455:G>C,NM_031475.2:c.2325+1299G>C,\N,\N,10/12,Unknown significance,\N,intron_variant,1.216,0.001,1KG_EAS_AF,ESPN
2126,1:6513463:G>A,NM_031475.2:c.2325+1307G>A,\N,\N,10/12,Unknown significance,\N,intron_variant,4.367,0.001,1KG_EUR_AF,ESPN
2127,1:6513468:C>T,NM_031475.2:c.2325+1312C>T,\N,\N,10/12,Unknown significance,\N,intron_variant,6.819,0.001,1KG_EUR_AF,ESPN
2128,1:6513502:C>T,NM_031475.2:c.2325+1346C>T,\N,\N,10/12,Unknown significance,\N,intron_variant,3.592,\N,\N,ESPN
2129,1:6513535:G>A,NM_031475.2:c.2325+1379G>A,\N,\N,10/12,Unknown significance,\N,intron_variant,2.736,\N,\N,ESPN
2130,1:6513564:A>G,NM_031475.2:c.2325+1408A>G,\N,\N,10/12,Benign,\N,intron_variant,1.438,0.0189,1KG_AFR_AF,ESPN
2131,1:6513567:A>C,NM_031475.2:c.2325+1411A>C,\N,\N,10/12,Unknown significance,\N,intron_variant,1.8,\N,\N,ESPN
2132,1:6513568:G>A,NM_031475.2:c.2325+1412G>A,\N,\N,10/12,Unknown significance,\N,intron_variant,1.807,\N,\N,ESPN
2133,1:6513574:T>G,NM_031475.2:c.2325+1418T>G,\N,\N,10/12,Unknown significance,\N,intron_variant,1.197,\N,\N,ESPN
2134,1:6513595:A>G,NM_031475.2:c.2325+1439A>G,\N,\N,10/12,Unknown significance,\N,intron_variant,4.135,\N,\N,ESPN
2135,1:6513601:A>G,NM_031475.2:c.2325+1445A>G,\N,\N,10/12,Unknown significance,\N,intron_variant,0.542,\N,\N,ESPN
2136,1:6513615:G>C,NM_031475.2:c.2325+1459G>C,\N,\N,10/12,Unknown significance,\N,intron_variant,0.392,0.001,1KG_EAS_AF,ESPN
2137,1:6513655:C>T,NM_031475.2:c.2325+1499C>T,\N,\N,10/12,Unknown significance,\N,intron_variant,1.065,0.0045,1KG_AFR_AF,ESPN
2138,1:6513703:C>T,NM_031475.2:c.2325+1547C>T,\N,\N,10/12,Unknown significance,\N,intron_variant,5.45,\N,\N,ESPN
2139,1:6513725:C>CT,NM_031475.2:c.2325+1572dup,\N,\N,10/12,Benign,\N,intron_variant,7.521,0.0188,1KG_EAS_AF,ESPN
2140,1:6513756:G>A,NM_031475.2:c.2325+1600G>A,\N,\N,10/12,Unknown significance,\N,intron_variant,2.113,0.0008,1KG_AFR_AF,ESPN
2141,1:6513771:G>T,NM_031475.2:c.2325+1615G>T,\N,\N,10/12,Unknown significance,\N,intron_variant,11.57,\N,\N,ESPN
2142,1:6513778:G>A,NM_031475.2:c.2325+1622G>A,\N,\N,10/12,Unknown significance,\N,intron_variant,3.221,\N,\N,ESPN
2143,1:6513790:T>A,NM_031475.2:c.2325+1634T>A,\N,\N,10/12,Unknown significance,\N,intron_variant,2.779,0.001,1KG_SAS_AF,ESPN
2144,1:6513811:G>C,NM_031475.2:c.2325+1655G>C,\N,\N,10/12,Unknown significance,\N,intron_variant,0.417,\N,\N,ESPN
2145,1:6513819:T>C,NM_031475.2:c.2325+1663T>C,\N,\N,10/12,Unknown significance,\N,intron_variant,1.609,\N,\N,ESPN
2146,1:6513833:G>A,NM_031475.2:c.2325+1677G>A,\N,\N,10/12,Unknown significance,\N,intron_variant,1.941,\N,\N,ESPN
2147,1:6513861:A>AG,NM_031475.2:c.2325+1710dup,\N,\N,10/12,Unknown significance,\N,intron_variant,\N,\N,\N,ESPN
2148,1:6513863:G>C,NM_031475.2:c.2325+1707G>C,\N,\N,10/12,Unknown significance,\N,intron_variant,0.391,\N,\N,ESPN
2149,1:6513908:A>G,NM_031475.2:c.2325+1752A>G,\N,\N,10/12,Benign,\N,intron_variant,1.755,0.056,1KG_AFR_AF,ESPN
2150,1:6513968:G>C,NM_031475.2:c.2325+1812G>C,\N,\N,10/12,Unknown significance,\N,intron_variant,0.793,0.0015,1KG_AFR_AF,ESPN
2151,1:6513989:T>C,NM_031475.2:c.2325+1833T>C,\N,\N,10/12,Unknown significance,\N,intron_variant,1.532,\N,\N,ESPN
2152,1:6513997:G>A,NM_031475.2:c.2325+1841G>A,\N,\N,10/12,Unknown significance,\N,intron_variant,1.674,0.001,1KG_EUR_AF,ESPN
2153,1:6514026:A>T,NM_031475.2:c.2325+1870A>T,\N,\N,10/12,Benign,\N,intron_variant,0.989,0.0809,1KG_AFR_AF,ESPN
2154,1:6514042:G>A,NM_031475.2:c.2325+1886G>A,\N,\N,10/12,Benign,\N,intron_variant,4.164,0.0197,1KG_AFR_AF,ESPN
2155,1:6514045:A>G,NM_031475.2:c.2325+1889A>G,\N,\N,10/12,Unknown significance,\N,intron_variant,4.214,0.0045,1KG_AFR_AF,ESPN
2156,1:6514052:G>A,NM_031475.2:c.2325+1896G>A,\N,\N,10/12,Unknown significance,\N,intron_variant,6.809,\N,\N,ESPN
2157,1:6514071:G>C,NM_031475.2:c.2325+1915G>C,\N,\N,10/12,Unknown significance,\N,intron_variant,5.401,0.0015,1KG_AFR_AF,ESPN
2158,1:6514093:G>C,NM_031475.2:c.2325+1937G>C,\N,\N,10/12,Unknown significance,\N,intron_variant,2.003,0.001,1KG_SAS_AF,ESPN
2159,1:6514102:C>CAA,NM_031475.2:c.2325+1947_2325+1948dup,\N,\N,10/12,Unknown significance,\N,intron_variant,\N,\N,\N,ESPN
2160,1:6514126:G>T,NM_031475.2:c.2325+1970G>T,\N,\N,10/12,Unknown significance,\N,intron_variant,6.42,0.001,1KG_EAS_AF,ESPN
2161,1:6514155:C>T,NM_031475.2:c.2325+1999C>T,\N,\N,10/12,Unknown significance,\N,intron_variant,1.839,0.0008,1KG_AFR_AF,ESPN
2162,1:6514164:C>G,NM_031475.2:c.2325+2008C>G,\N,\N,10/12,Unknown significance,\N,intron_variant,13.71,0.001,1KG_EAS_AF,ESPN
2163,1:6514195:A>C,NM_031475.2:c.2325+2039A>C,\N,\N,10/12,Benign,\N,intron_variant,1.347,0.0809,1KG_AFR_AF,ESPN
2164,1:6514216:C>T,NM_031475.2:c.2325+2060C>T,\N,\N,10/12,Benign,\N,intron_variant,7.721,0.047,1KG_SAS_AF,ESPN
2165,1:6514231:T>A,NM_031475.2:c.2325+2075T>A,\N,\N,10/12,Unknown significance,\N,intron_variant,9.699,\N,\N,ESPN
2166,1:6514235:G>A,NM_031475.2:c.2325+2079G>A,\N,\N,10/12,Unknown significance,\N,intron_variant,7.604,0.0008,1KG_AFR_AF,ESPN
2167,1:6514249:C>A,NM_031475.2:c.2325+2093C>A,\N,\N,10/12,Unknown significance,\N,intron_variant,10.14,0.001,1KG_EAS_AF,ESPN
2168,1:6514268:A>C,NM_031475.2:c.2325+2112A>C,\N,\N,10/12,Unknown significance,\N,intron_variant,1.221,\N,\N,ESPN
2169,1:6514274:C>G,NM_031475.2:c.2325+2118C>G,\N,\N,10/12,Unknown significance,\N,intron_variant,0.078,\N,\N,ESPN
2170,1:6514279:CA>C,NM_031475.2:c.2325+2126del,\N,\N,10/12,Benign,\N,intron_variant,7.015,0.0189,1KG_AFR_AF,ESPN
2171,1:6514292:G>A,NM_031475.2:c.2325+2136G>A,\N,\N,10/12,Unknown significance,\N,intron_variant,0.884,\N,\N,ESPN
2172,1:6514297:G>T,NM_031475.2:c.2325+2141G>T,\N,\N,10/12,Unknown significance,\N,intron_variant,0.276,\N,\N,ESPN
2173,1:6514344:C>A,NM_031475.2:c.2325+2188C>A,\N,\N,10/12,Unknown significance,\N,intron_variant,0.267,0.0008,1KG_AFR_AF,ESPN
2174,1:6514356:A>G,NM_031475.2:c.2325+2200A>G,\N,\N,10/12,Unknown significance,\N,intron_variant,0.01,0.0041,1KG_SAS_AF,ESPN
2175,1:6514360:G>A,NM_031475.2:c.2325+2204G>A,\N,\N,10/12,Benign,\N,intron_variant,0.198,0.0378,1KG_AFR_AF,ESPN
2176,1:6514541:C>T,NM_031475.2:c.2325+2385C>T,\N,\N,10/12,Benign,\N,intron_variant,12.38,0.0184,1KG_SAS_AF,ESPN
2177,1:6514556:C>T,NM_031475.2:c.2325+2400C>T,\N,\N,10/12,Unknown significance,\N,intron_variant,11.33,0.0031,1KG_SAS_AF,ESPN
2178,1:6514573:T>C,NM_031475.2:c.2325+2417T>C,\N,\N,10/12,Unknown significance,\N,intron_variant,6.498,0.001,1KG_EAS_AF,ESPN
2179,1:6514600:T>A,NM_031475.2:c.2325+2444T>A,\N,\N,10/12,Unknown significance,\N,intron_variant,10.31,0.004,1KG_EAS_AF,ESPN
2180,1:6514601:C>A,NM_031475.2:c.2325+2445C>A,\N,\N,10/12,Unknown significance,\N,intron_variant,10.64,0.004,1KG_EAS_AF,ESPN
2181,1:6514676:A>ACTGGAG,NM_031475.2:c.2325+2534_2325+2539dup,\N,\N,10/12,Benign,\N,intron_variant,10.28,0.0053,1KG_AFR_AF,ESPN
2182,1:6514688:G>A,NM_031475.2:c.2325+2532G>A,\N,\N,10/12,Unknown significance,\N,intron_variant,12.34,\N,\N,ESPN
2183,1:6514710:T>C,NM_031475.2:c.2326-2534T>C,\N,\N,10/12,Unknown significance,\N,intron_variant,8.224,0.001,1KG_SAS_AF,ESPN
2184,1:6514711:C>T,NM_031475.2:c.2326-2533C>T,\N,\N,10/12,Unknown significance,\N,intron_variant,11.48,0.001,1KG_SAS_AF,ESPN
2185,1:6514826:G>A,NM_031475.2:c.2326-2418G>A,\N,\N,10/12,Unknown significance,\N,intron_variant,9.6,\N,\N,ESPN
2186,1:6514903:C>T,NM_031475.2:c.2326-2341C>T,\N,\N,10/12,Benign,\N,intron_variant,5.777,0.1036,1KG_AFR_AF,ESPN
2187,1:6514914:G>A,NM_031475.2:c.2326-2330G>A,\N,\N,10/12,Unknown significance,\N,intron_variant,2.227,0.001,1KG_SAS_AF,ESPN
2188,1:6515023:T>A,NM_031475.2:c.2326-2221T>A,\N,\N,10/12,Unknown significance,\N,intron_variant,4.022,\N,\N,ESPN
2189,1:6515028:G>A,NM_031475.2:c.2326-2216G>A,\N,\N,10/12,Benign,\N,intron_variant,5.388,0.031,1KG_AFR_AF,ESPN
2190,1:6515064:G>C,NM_031475.2:c.2326-2180G>C,\N,\N,10/12,Unknown significance,\N,intron_variant,0.159,\N,\N,ESPN
2191,1:6515075:G>A,NM_031475.2:c.2326-2169G>A,\N,\N,10/12,Benign,\N,intron_variant,1.124,0.0091,1KG_AFR_AF,ESPN
2192,1:6515089:C>A,NM_031475.2:c.2326-2155C>A,\N,\N,10/12,Unknown significance,\N,intron_variant,2.701,\N,\N,ESPN
2193,1:6515148:C>G,NM_031475.2:c.2326-2096C>G,\N,\N,10/12,Unknown significance,\N,intron_variant,0.211,\N,\N,ESPN
2194,1:6515191:T>C,NM_031475.2:c.2326-2053T>C,\N,\N,10/12,Unknown significance,\N,intron_variant,0.033,\N,\N,ESPN
2195,1:6515207:G>A,NM_031475.2:c.2326-2037G>A,\N,\N,10/12,Benign,\N,intron_variant,1.657,0.0144,1KG_AFR_AF,ESPN
2196,1:6515238:C>A,NM_031475.2:c.2326-2006C>A,\N,\N,10/12,Benign,\N,intron_variant,8.296,0.0393,1KG_AFR_AF,ESPN
2197,1:6515278:G>T,NM_031475.2:c.2326-1966G>T,\N,\N,10/12,Unknown significance,\N,intron_variant,11.36,0.002,1KG_EAS_AF,ESPN
2198,1:6515293:C>T,NM_031475.2:c.2326-1951C>T,\N,\N,10/12,Unknown significance,\N,intron_variant,7.471,0.001,1KG_EAS_AF,ESPN
2199,1:6515351:C>A,NM_031475.2:c.2326-1893C>A,\N,\N,10/12,Benign,\N,intron_variant,14.95,0.0189,1KG_AFR_AF,ESPN
2200,1:6515361:C>T,NM_031475.2:c.2326-1883C>T,\N,\N,10/12,Unknown significance,\N,intron_variant,12.94,0.0031,1KG_SAS_AF,ESPN
2201,1:6515371:G>T,NM_031475.2:c.2326-1873G>T,\N,\N,10/12,Unknown significance,\N,intron_variant,3.165,\N,\N,ESPN
2202,1:6515373:T>TGGGCCTTCCGCGGACC,NM_031475.2:c.2326-1865_2326-1864insTCCGCGGACCGGGCCT,\N,\N,10/12,Unknown significance,\N,intron_variant,\N,\N,\N,ESPN
2203,1:6515380:G>T,NM_031475.2:c.2326-1864G>T,\N,\N,10/12,Unknown significance,\N,intron_variant,0.48,\N,\N,ESPN
2204,1:6515382:C>A,NM_031475.2:c.2326-1862C>A,\N,\N,10/12,Unknown significance,\N,intron_variant,4.303,\N,\N,ESPN
2205,1:6515408:G>T,NM_031475.2:c.2326-1836G>T,\N,\N,10/12,Unknown significance,\N,intron_variant,6.73,0.003,1KG_AFR_AF,ESPN
2206,1:6515415:C>G,NM_031475.2:c.2326-1829C>G,\N,\N,10/12,Unknown significance,\N,intron_variant,8.558,\N,\N,ESPN
2207,1:6515418:G>A,NM_031475.2:c.2326-1826G>A,\N,\N,10/12,Unknown significance,\N,intron_variant,3.22,\N,\N,ESPN
2208,1:6515426:G>A,NM_031475.2:c.2326-1818G>A,\N,\N,10/12,Unknown significance,\N,intron_variant,5.395,0.001,1KG_SAS_AF,ESPN
2209,1:6515468:C>G,NM_031475.2:c.2326-1776C>G,\N,\N,10/12,Unknown significance,\N,intron_variant,0.687,0.0015,1KG_AFR_AF,ESPN
2210,1:6515475:G>T,NM_031475.2:c.2326-1769G>T,\N,\N,10/12,Unknown significance,\N,intron_variant,0.082,0.001,1KG_SAS_AF,ESPN
2211,1:6515478:C>T,NM_031475.2:c.2326-1766C>T,\N,\N,10/12,Unknown significance,\N,intron_variant,0.271,\N,\N,ESPN
2212,1:6515499:A>G,NM_031475.2:c.2326-1745A>G,\N,\N,10/12,Unknown significance,\N,intron_variant,0.003,0.004,1KG_EAS_AF,ESPN
2213,1:6515501:C>T,NM_031475.2:c.2326-1743C>T,\N,\N,10/12,Unknown significance,\N,intron_variant,0.343,\N,\N,ESPN
2214,1:6515505:G>A,NM_031475.2:c.2326-1739G>A,\N,\N,10/12,Unknown significance,\N,intron_variant,0.096,0.001,1KG_EUR_AF,ESPN
2215,1:6515523:C>T,NM_031475.2:c.2326-1721C>T,\N,\N,10/12,Unknown significance,\N,intron_variant,1.073,\N,\N,ESPN
2216,1:6515598:G>A,NM_031475.2:c.2326-1646G>A,\N,\N,10/12,Benign,\N,intron_variant,11.25,0.0076,1KG_AFR_AF,ESPN
2217,1:6515660:G>A,NM_031475.2:c.2326-1584G>A,\N,\N,10/12,Unknown significance,\N,intron_variant,9.314,0.0008,1KG_AFR_AF,ESPN
2218,1:6515666:C>T,NM_031475.2:c.2326-1578C>T,\N,\N,10/12,Unknown significance,\N,intron_variant,12.3,0.0029,1KG_AMR_AF,ESPN
2219,1:6515675:C>T,NM_031475.2:c.2326-1569C>T,\N,\N,10/12,Unknown significance,\N,intron_variant,3.994,0.001,1KG_SAS_AF,ESPN
2220,1:6515677:CGCACTACGA>C,NM_031475.2:c.2326-1566_2326-1558del,\N,\N,10/12,Unknown significance,\N,intron_variant,\N,\N,\N,ESPN
2221,1:6515685:G>A,NM_031475.2:c.2326-1559G>A,\N,\N,10/12,Unknown significance,\N,intron_variant,13.72,0.0015,1KG_AFR_AF,ESPN
2222,1:6515714:C>G,NM_031475.2:c.2326-1530C>G,\N,\N,10/12,Unknown significance,\N,intron_variant,12.77,\N,\N,ESPN
2223,1:6515748:C>A,NM_031475.2:c.2326-1496C>A,\N,\N,10/12,Unknown significance,\N,intron_variant,16.46,0.001,1KG_EUR_AF,ESPN
2224,1:6515756:G>T,NM_031475.2:c.2326-1488G>T,\N,\N,10/12,Unknown significance,\N,intron_variant,12.3,0.004,1KG_EAS_AF,ESPN
2225,1:6515783:C>T,NM_031475.2:c.2326-1461C>T,\N,\N,10/12,Unknown significance,\N,intron_variant,13.32,0.001,1KG_SAS_AF,ESPN
2226,1:6515793:G>C,NM_031475.2:c.2326-1451G>C,\N,\N,10/12,Unknown significance,\N,intron_variant,12.3,\N,\N,ESPN
2227,1:6515798:A>G,NM_031475.2:c.2326-1446A>G,\N,\N,10/12,Unknown significance,\N,intron_variant,10.89,\N,\N,ESPN
2228,1:6515803:G>A,NM_031475.2:c.2326-1441G>A,\N,\N,10/12,Unknown significance,\N,intron_variant,12.99,\N,\N,ESPN
2229,1:6515820:C>A,NM_031475.2:c.2326-1424C>A,\N,\N,10/12,Unknown significance,\N,intron_variant,15.23,0.001,1KG_EUR_AF,ESPN
2230,1:6515838:C>A,NM_031475.2:c.2326-1406C>A,\N,\N,10/12,Benign,\N,intron_variant,11.39,0.0061,1KG_SAS_AF,ESPN
2231,1:6515868:C>T,NM_031475.2:c.2326-1376C>T,\N,\N,10/12,Unknown significance,\N,intron_variant,0.719,\N,\N,ESPN
2232,1:6515873:C>G,NM_031475.2:c.2326-1371C>G,\N,\N,10/12,Benign,\N,intron_variant,1.246,0.0189,1KG_AFR_AF,ESPN
2233,1:6515877:T>C,NM_031475.2:c.2326-1367T>C,\N,\N,10/12,Unknown significance,\N,intron_variant,5.799,0.001,1KG_SAS_AF,ESPN
2234,1:6515879:G>T,NM_031475.2:c.2326-1365G>T,\N,\N,10/12,Unknown significance,\N,intron_variant,5.116,0.0015,1KG_AFR_AF,ESPN
2235,1:6515907:C>A,NM_031475.2:c.2326-1337C>A,\N,\N,10/12,Unknown significance,\N,intron_variant,1.745,\N,\N,ESPN
2236,1:6515938:C>T,NM_031475.2:c.2326-1306C>T,\N,\N,10/12,Unknown significance,\N,intron_variant,0.8,0.0008,1KG_AFR_AF,ESPN
2237,1:6515944:C>T,NM_031475.2:c.2326-1300C>T,\N,\N,10/12,Unknown significance,\N,intron_variant,0.109,0.0023,1KG_AFR_AF,ESPN
2238,1:6515976:G>A,NM_031475.2:c.2326-1268G>A,\N,\N,10/12,Unknown significance,\N,intron_variant,0.039,0.001,1KG_SAS_AF,ESPN
2239,1:6515997:G>A,NM_031475.2:c.2326-1247G>A,\N,\N,10/12,Unknown significance,\N,intron_variant,0.048,0.001,1KG_EAS_AF,ESPN
2240,1:6516093:G>C,NM_031475.2:c.2326-1151G>C,\N,\N,10/12,Unknown significance,\N,intron_variant,0.029,0.0015,1KG_AFR_AF,ESPN
2241,1:6516106:C>T,NM_031475.2:c.2326-1138C>T,\N,\N,10/12,Unknown significance,\N,intron_variant,0.065,\N,\N,ESPN
2242,1:6516113:C>T,NM_031475.2:c.2326-1131C>T,\N,\N,10/12,Unknown significance,\N,intron_variant,0.395,\N,\N,ESPN
2243,1:6516119:T>G,NM_031475.2:c.2326-1125T>G,\N,\N,10/12,Unknown significance,\N,intron_variant,0.049,\N,\N,ESPN
2244,1:6516125:C>G,NM_031475.2:c.2326-1119C>G,\N,\N,10/12,Unknown significance,\N,intron_variant,0.035,0.001,1KG_SAS_AF,ESPN
2245,1:6516135:G>A,NM_031475.2:c.2326-1109G>A,\N,\N,10/12,Unknown significance,\N,intron_variant,0.089,0.0015,1KG_AFR_AF,ESPN
2246,1:6516146:C>T,NM_031475.2:c.2326-1098C>T,\N,\N,10/12,Unknown significance,\N,intron_variant,12.14,\N,\N,ESPN
2247,1:6516162:G>C,NM_031475.2:c.2326-1082G>C,\N,\N,10/12,Unknown significance,\N,intron_variant,11.82,\N,\N,ESPN
2248,1:6516170:C>T,NM_031475.2:c.2326-1074C>T,\N,\N,10/12,Benign,\N,intron_variant,13,0.1104,1KG_AFR_AF,ESPN
2249,1:6516173:G>A,NM_031475.2:c.2326-1071G>A,\N,\N,10/12,Unknown significance,\N,intron_variant,10.99,\N,\N,ESPN
2250,1:6516182:C>T,NM_031475.2:c.2326-1062C>T,\N,\N,10/12,Benign,\N,intron_variant,12.75,0.005,1KG_EUR_AF,ESPN
2251,1:6516194:C>T,NM_031475.2:c.2326-1050C>T,\N,\N,10/12,Unknown significance,\N,intron_variant,11.55,0.0008,1KG_AFR_AF,ESPN
2252,1:6516196:G>T,NM_031475.2:c.2326-1048G>T,\N,\N,10/12,Unknown significance,\N,intron_variant,11.7,0.001,1KG_EAS_AF,ESPN
2253,1:6516201:A>G,NM_031475.2:c.2326-1043A>G,\N,\N,10/12,Unknown significance,\N,intron_variant,11.28,\N,\N,ESPN
2254,1:6516212:C>A,NM_031475.2:c.2326-1032C>A,\N,\N,10/12,Unknown significance,\N,intron_variant,14.31,\N,\N,ESPN
2255,1:6516212:C>T,NM_031475.2:c.2326-1032C>T,\N,\N,10/12,Unknown significance,\N,intron_variant,13.26,0.002,1KG_SAS_AF,ESPN
2256,1:6516220:T>C,NM_031475.2:c.2326-1024T>C,\N,\N,10/12,Unknown significance,\N,intron_variant,11.44,0.002,1KG_EUR_AF,ESPN
2257,1:6516227:A>G,NM_031475.2:c.2326-1017A>G,\N,\N,10/12,Unknown significance,\N,intron_variant,9.813,0.001,1KG_EUR_AF,ESPN
2258,1:6516242:G>T,NM_031475.2:c.2326-1002G>T,\N,\N,10/12,Unknown significance,\N,intron_variant,11.31,\N,\N,ESPN
2259,1:6516285:C>G,NM_031475.2:c.2326-959C>G,\N,\N,10/12,Unknown significance,\N,intron_variant,5.266,\N,\N,ESPN
2260,1:6516289:C>T,NM_031475.2:c.2326-955C>T,\N,\N,10/12,Benign,\N,intron_variant,7.333,0.0136,1KG_AFR_AF,ESPN
2261,1:6516308:C>G,NM_031475.2:c.2326-936C>G,\N,\N,10/12,Unknown significance,\N,intron_variant,6.734,\N,\N,ESPN
2262,1:6516308:C>T,NM_031475.2:c.2326-936C>T,\N,\N,10/12,Unknown significance,\N,intron_variant,8.128,0.0008,1KG_AFR_AF,ESPN
2263,1:6516316:C>T,NM_031475.2:c.2326-928C>T,\N,\N,10/12,Unknown significance,\N,intron_variant,6.324,\N,\N,ESPN
2264,1:6516327:C>T,NM_031475.2:c.2326-917C>T,\N,\N,10/12,Benign,\N,intron_variant,10.41,0.031,1KG_AFR_AF,ESPN
2265,1:6516429:C>A,NM_031475.2:c.2326-815C>A,\N,\N,10/12,Benign,\N,intron_variant,7.117,0.007,1KG_EUR_AF,ESPN
2266,1:6516442:G>A,NM_031475.2:c.2326-802G>A,\N,\N,10/12,Unknown significance,\N,intron_variant,4.781,0.0015,1KG_AFR_AF,ESPN
2267,1:6516460:G>A,NM_031475.2:c.2326-784G>A,\N,\N,10/12,Benign,\N,intron_variant,3.048,0.0215,1KG_SAS_AF,ESPN
2268,1:6516521:G>C,NM_031475.2:c.2326-723G>C,\N,\N,10/12,Unknown significance,\N,intron_variant,2.968,\N,\N,ESPN
2269,1:6516554:G>C,NM_031475.2:c.2326-690G>C,\N,\N,10/12,Unknown significance,\N,intron_variant,1.242,0.001,1KG_SAS_AF,ESPN
2270,1:6516571:T>C,NM_031475.2:c.2326-673T>C,\N,\N,10/12,Unknown significance,\N,intron_variant,4.333,0.0015,1KG_AFR_AF,ESPN
2271,1:6516574:C>G,NM_031475.2:c.2326-670C>G,\N,\N,10/12,Unknown significance,\N,intron_variant,0.229,0.0015,1KG_AFR_AF,ESPN
2272,1:6516602:C>T,NM_031475.2:c.2326-642C>T,\N,\N,10/12,Benign,\N,intron_variant,5.223,0.0121,1KG_AFR_AF,ESPN
2273,1:6516604:C>G,NM_031475.2:c.2326-640C>G,\N,\N,10/12,Unknown significance,\N,intron_variant,8.551,\N,\N,ESPN
2274,1:6516642:T>A,NM_031475.2:c.2326-602T>A,\N,\N,10/12,Benign,\N,intron_variant,11.12,1,1KG_SAS_AF,ESPN
2275,1:6516647:C>A,NM_031475.2:c.2326-597C>A,\N,\N,10/12,Unknown significance,\N,intron_variant,9.57,0.0031,1KG_SAS_AF,ESPN
2276,1:6516675:C>T,NM_031475.2:c.2326-569C>T,\N,\N,10/12,Unknown significance,\N,intron_variant,8.156,\N,\N,ESPN
2277,1:6516690:T>C,NM_031475.2:c.2326-554T>C,\N,\N,10/12,Unknown significance,\N,intron_variant,3.882,\N,\N,ESPN
2278,1:6516701:A>C,NM_031475.2:c.2326-543A>C,\N,\N,10/12,Unknown significance,\N,intron_variant,7.166,0.001,1KG_EAS_AF,ESPN
2279,1:6516712:A>G,NM_031475.2:c.2326-532A>G,\N,\N,10/12,Unknown significance,\N,intron_variant,11.53,\N,\N,ESPN
2280,1:6516715:A>C,NM_031475.2:c.2326-529A>C,\N,\N,10/12,Unknown significance,\N,intron_variant,11.51,\N,\N,ESPN
2281,1:6516719:T>G,NM_031475.2:c.2326-525T>G,\N,\N,10/12,Unknown significance,\N,intron_variant,9.567,0.0014,1KG_AMR_AF,ESPN
2282,1:6516753:C>G,NM_031475.2:c.2326-491C>G,\N,\N,10/12,Unknown significance,\N,intron_variant,12.38,\N,\N,ESPN
2283,1:6516789:T>G,NM_031475.2:c.2326-455T>G,\N,\N,10/12,Unknown significance,\N,intron_variant,0.999,0.0041,1KG_SAS_AF,ESPN
2284,1:6516805:A>G,NM_031475.2:c.2326-439A>G,\N,\N,10/12,Benign,\N,intron_variant,0.951,0.0242,1KG_AFR_AF,ESPN
2285,1:6516820:A>C,NM_031475.2:c.2326-424A>C,\N,\N,10/12,Unknown significance,\N,intron_variant,4.763,0.001,1KG_EUR_AF,ESPN
2286,1:6516835:T>G,NM_031475.2:c.2326-409T>G,\N,\N,10/12,Unknown significance,\N,intron_variant,4.407,\N,\N,ESPN
2287,1:6516874:A>C,NM_031475.2:c.2326-370A>C,\N,\N,10/12,Unknown significance,\N,intron_variant,1.788,0.0015,1KG_AFR_AF,ESPN
2288,1:6516889:T>TG,NM_031475.2:c.2326-350dup,\N,\N,10/12,Benign,\N,intron_variant,1.633,0.0061,1KG_AFR_AF,ESPN
2289,1:6516909:C>G,NM_031475.2:c.2326-335C>G,\N,\N,10/12,Unknown significance,\N,intron_variant,2.486,\N,\N,ESPN
2290,1:6516911:T>C,NM_031475.2:c.2326-333T>C,\N,\N,10/12,Unknown significance,\N,intron_variant,2.134,0.002,1KG_EAS_AF,ESPN
2291,1:6516921:G>C,NM_031475.2:c.2326-323G>C,\N,\N,10/12,Benign,\N,intron_variant,1.343,0.0215,1KG_SAS_AF,ESPN
2292,1:6516954:C>T,NM_031475.2:c.2326-290C>T,\N,\N,10/12,Benign,\N,intron_variant,4.129,0.0182,1KG_AFR_AF,ESPN
2293,1:6516957:C>T,NM_031475.2:c.2326-287C>T,\N,\N,10/12,Unknown significance,\N,intron_variant,8.16,\N,\N,ESPN
2294,1:6516977:C>T,NM_031475.2:c.2326-267C>T,\N,\N,10/12,Unknown significance,\N,intron_variant,0.941,0.001,1KG_EUR_AF,ESPN
2295,1:6516985:C>T,NM_031475.2:c.2326-259C>T,\N,\N,10/12,Unknown significance,\N,intron_variant,3.972,0.0038,1KG_AFR_AF,ESPN
2296,1:6517015:T>C,NM_031475.2:c.2326-229T>C,\N,\N,10/12,Benign,\N,intron_variant,3.092,0.7458,1KG_AFR_AF,ESPN
2297,1:6517023:T>G,NM_031475.2:c.2326-221T>G,\N,\N,10/12,Benign,\N,intron_variant,5.514,0.0946,1KG_AFR_AF,ESPN
2298,1:6517027:C>T,NM_031475.2:c.2326-217C>T,\N,\N,10/12,Unknown significance,\N,intron_variant,7.137,0.0008,1KG_AFR_AF,ESPN
2299,1:6517034:G>A,NM_031475.2:c.2326-210G>A,\N,\N,10/12,Unknown significance,\N,intron_variant,6.187,\N,\N,ESPN
2300,1:6517041:C>T,NM_031475.2:c.2326-203C>T,\N,\N,10/12,Benign,\N,intron_variant,7.108,0.0356,1KG_AFR_AF,ESPN
2301,1:6517051:T>C,NM_031475.2:c.2326-193T>C,\N,\N,10/12,Benign,\N,intron_variant,0.833,0.7458,1KG_AFR_AF,ESPN
2302,1:6517094:G>A,NM_031475.2:c.2326-150G>A,\N,\N,10/12,Unknown significance,\N,intron_variant,4.485,0.0008,1KG_AFR_AF,ESPN
2303,1:6517126:A>G,NM_031475.2:c.2326-118A>G,\N,\N,10/12,Benign,\N,intron_variant,2.794,0.205,1KG_AFR_AF,ESPN
2304,1:6517131:T>A,NM_031475.2:c.2326-113T>A,\N,\N,10/12,Benign,\N,intron_variant,7.767,0.0061,1KG_AFR_AF,ESPN
2305,1:6517174:G>A,NM_031475.2:c.2326-70G>A,\N,\N,10/12,Unknown significance,\N,intron_variant,8.989,0.002,1KG_EUR_AF,ESPN
2306,1:6517179:G>A,NM_031475.2:c.2326-65G>A,\N,\N,10/12,Unknown significance,\N,intron_variant,2.763,\N,\N,ESPN
2307,1:6517179:G>C,NM_031475.2:c.2326-65G>C,\N,\N,10/12,Benign,\N,intron_variant,0.683,0.2572,1KG_AFR_AF,ESPN
2308,1:6517191:GC>G,NM_031475.2:c.2326-48del,\N,\N,10/12,Unknown significance,\N,intron_variant,\N,\N,\N,ESPN
2309,1:6517208:C>T,NM_031475.2:c.2326-36C>T,\N,\N,10/12,Unknown significance,\N,intron_variant,6.382,0.000114312,EXAC_SAS_AF,ESPN
2310,1:6517218:C>T,NM_031475.2:c.2326-26C>T,\N,\N,10/12,Unknown significance,\N,intron_variant,7.195,\N,\N,ESPN
2311,1:6517225:C>T,NM_031475.2:c.2326-19C>T,\N,\N,10/12,Unknown significance,\N,intron_variant,7.304,0.001,1KG_EAS_AF,ESPN
2312,1:6517233:T>C,NM_031475.2:c.2326-11T>C,\N,\N,10/12,Unknown significance,\N,intron_variant,8.371,0.0000547166,EXAC_NFE_AF,ESPN
2313,1:6517241:C>T,NM_031475.2:c.2326-3C>T,\N,\N,10/12,Unknown significance,\N,splice_region_variant&intron_variant,16.72,0.001,1KG_SAS_AF,ESPN
2314,1:6517244:G>A,NM_031475.2:c.2326G>A,NP_113663.2:p.Glu776Lys,11/13,\N,Benign,\N,missense_variant&splice_region_variant,29.1,0.00710109,EXAC_EAS_AF,ESPN
2315,1:6517245:AGGAGGAGGAGGAGGCCCGGCTGGCCAGCATGCCCGCCT>A,NM_031475.2:c.2333_2370del,NP_113663.2:p.Glu778AlafsTer44,11/13,\N,Unknown significance,\N,frameshift_variant&splice_region_variant,36,\N,\N,ESPN
2316,1:6517251:A>G,NM_031475.2:c.2333A>G,NP_113663.2:p.Glu778Gly,11/13,\N,Unknown significance,\N,missense_variant,27.4,\N,\N,ESPN
2317,1:6517253:G>A,NM_031475.2:c.2335G>A,NP_113663.2:p.Glu779Lys,11/13,\N,Unknown significance,\N,missense_variant,34,0.0000366972,EXAC_NFE_AF,ESPN
2318,1:6517262:C>T,NM_031475.2:c.2344C>T,NP_113663.2:p.Arg782Trp,11/13,\N,Likely benign,\N,missense_variant,25.3,0.001,1KG_SAS_AF,ESPN
2319,1:6517263:G>A,NM_031475.2:c.2345G>A,NP_113663.2:p.Arg782Gln,11/13,\N,Unknown significance,\N,missense_variant,35,0.000087184,EXAC_SAS_AF,ESPN
2320,1:6517265:C>G,NM_031475.2:c.2347C>G,NP_113663.2:p.Leu783Val,11/13,\N,Unknown significance,\N,missense_variant,26.8,\N,\N,ESPN
2321,1:6517269:C>G,NM_031475.2:c.2351C>G,NP_113663.2:p.Ala784Gly,11/13,\N,Unknown significance,\N,missense_variant,33,0.00019857,EXAC_AMR_AF,ESPN
2322,1:6517278:C>T,NM_031475.2:c.2360C>T,NP_113663.2:p.Pro787Leu,11/13,\N,Unknown significance,\N,missense_variant,34,0.000150602,EXAC_AFR_AF,ESPN
2323,1:6517279:C>T,NM_031475.2:c.2361C>T,NP_113663.2:p.Pro787=,11/13,\N,Unknown significance,\N,synonymous_variant,17.6,0.003125,OTO_CO_AF,ESPN
2324,1:6517280:G>A,NM_031475.2:c.2362G>A,NP_113663.2:p.Ala788Thr,11/13,\N,Unknown significance,\N,missense_variant,34,0.000145433,EXAC_AFR_AF,ESPN
2325,1:6517280:G>T,NM_031475.2:c.2362G>T,NP_113663.2:p.Ala788Ser,11/13,\N,Unknown significance,\N,missense_variant,33,\N,\N,ESPN
2326,1:6517281:C>T,NM_031475.2:c.2363C>T,NP_113663.2:p.Ala788Val,11/13,\N,Unknown significance,\N,missense_variant,34,0.0015,1KG_AFR_AF,ESPN
2327,1:6517288:G>C,NM_031475.2:c.2370G>C,NP_113663.2:p.Arg790Ser,11/13,\N,Unknown significance,\N,missense_variant,27.3,0.0008,1KG_AFR_AF,ESPN
2328,1:6517289:C>T,NM_031475.2:c.2371C>T,NP_113663.2:p.Arg791Trp,11/13,\N,Unknown significance,\N,missense_variant,28.3,0.0000188509,EXAC_NFE_AF,ESPN
2329,1:6517290:G>A,NM_031475.2:c.2372G>A,NP_113663.2:p.Arg791Gln,11/13,\N,Unknown significance,\N,missense_variant,34,0.0000683434,EXAC_SAS_AF,ESPN
2330,1:6517293:A>G,NM_031475.2:c.2375A>G,NP_113663.2:p.Asp792Gly,11/13,\N,Unknown significance,\N,missense_variant,29,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,ESPN
2331,1:6517294:C>T,NM_031475.2:c.2376C>T,NP_113663.2:p.Asp792=,11/13,\N,Unknown significance,\N,synonymous_variant,11.95,0.0000176149,EXAC_NFE_AF,ESPN
2332,1:6517295:C>G,NM_031475.2:c.2377C>G,NP_113663.2:p.Leu793Val,11/13,\N,Likely benign,\N,missense_variant,14.7,0.00020517,EXAC_AMR_AF,ESPN
2333,1:6517296:T>G,NM_031475.2:c.2378T>G,NP_113663.2:p.Leu793Arg,11/13,\N,Unknown significance,\N,missense_variant,25,0.0014,1KG_AMR_AF,ESPN
2334,1:6517300:G>A,NM_031475.2:c.2382G>A,NP_113663.2:p.Leu794=,11/13,\N,Unknown significance,\N,synonymous_variant,9.45,0.00122549,EXAC_OTH_AF,ESPN
2335,1:6517302:G>A,NM_031475.2:c.2384G>A,NP_113663.2:p.Arg795Gln,11/13,\N,Unknown significance,\N,missense_variant,34,0.000190259,EXAC_AMR_AF,ESPN
2336,1:6517321:G>A,NM_031475.2:c.2403G>A,NP_113663.2:p.Glu801=,11/13,\N,Unknown significance,\N,splice_region_variant&synonymous_variant,14.86,0.000116279,EVS_EA_AF,ESPN
2337,1:6517323:G>A,NM_031475.2:c.2405G>A,NP_113663.2:p.Arg802Lys,11/13,\N,Unknown significance,\N,missense_variant&splice_region_variant,25.2,0.00111607,EXAC_OTH_AF,ESPN
2338,1:6517325:T>G,NM_031475.2:c.2405+2T>G,\N,\N,11/12,Unknown significance,\N,splice_donor_variant,25.7,0.005,OTO_TR_AF,ESPN
2339,1:6517328:G>GC,NM_031475.2:c.2405+6dup,\N,\N,11/12,Unknown significance,\N,splice_region_variant&intron_variant,16.26,\N,\N,ESPN
2340,1:6517329:C>G,NM_031475.2:c.2405+6C>G,\N,\N,11/12,Unknown significance,\N,splice_region_variant&intron_variant,14.44,0.0000609756,EXAC_SAS_AF,ESPN
2341,1:6517332:G>C,NM_031475.2:c.2405+9G>C,\N,\N,11/12,Unknown significance,\N,intron_variant,12.72,0.0000151515,EXAC_NFE_AF,ESPN
2342,1:6517336:T>C,NM_031475.2:c.2405+13T>C,\N,\N,11/12,Unknown significance,\N,intron_variant,13.82,0.0008,1KG_AFR_AF,ESPN
2343,1:6517336:T>G,NM_031475.2:c.2405+13T>G,\N,\N,11/12,Unknown significance,\N,intron_variant,15.22,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,ESPN
2344,1:6517357:A>G,NM_031475.2:c.2405+34A>G,\N,\N,11/12,Unknown significance,\N,intron_variant,3.215,0.000116279,EVS_EA_AF,ESPN
2345,1:6517361:T>G,NM_031475.2:c.2405+38T>G,\N,\N,11/12,Unknown significance,\N,intron_variant,4.501,\N,\N,ESPN
2346,1:6517372:C>T,NM_031475.2:c.2405+49C>T,\N,\N,11/12,Unknown significance,\N,intron_variant,5.105,0.000231321,EXAC_EAS_AF,ESPN
2347,1:6517373:G>A,NM_031475.2:c.2406-48G>A,\N,\N,11/12,Unknown significance,\N,intron_variant,4.844,0.00366512,EXAC_AFR_AF,ESPN
2348,1:6517380:A>C,NM_031475.2:c.2406-41A>C,\N,\N,11/12,Unknown significance,\N,intron_variant,1.547,0.001,1KG_SAS_AF,ESPN
2349,1:6517382:G>A,NM_031475.2:c.2406-39G>A,\N,\N,11/12,Unknown significance,\N,intron_variant,3.318,0.0000150263,EXAC_NFE_AF,ESPN
2350,1:6517382:G>T,NM_031475.2:c.2406-39G>T,\N,\N,11/12,Unknown significance,\N,intron_variant,1.204,0.0000963948,EXAC_AFR_AF,ESPN
2351,1:6517383:T>G,NM_031475.2:c.2406-38T>G,\N,\N,11/12,Benign,\N,intron_variant,4.811,0.01,OTO_TR_AF,ESPN
2352,1:6517384:G>A,NM_031475.2:c.2406-37G>A,\N,\N,11/12,Unknown significance,\N,intron_variant,2.946,0.000210349,EXAC_NFE_AF,ESPN
2353,1:6517386:A>C,NM_031475.2:c.2406-35A>C,\N,\N,11/12,Unknown significance,\N,intron_variant,2.475,0.001,1KG_EAS_AF,ESPN
2354,1:6517386:A>T,NM_031475.2:c.2406-35A>T,\N,\N,11/12,Unknown significance,\N,intron_variant,3.771,0.000121139,EXAC_SAS_AF,ESPN
2355,1:6517388:G>A,NM_031475.2:c.2406-33G>A,\N,\N,11/12,Unknown significance,\N,intron_variant,5.776,0.0000300418,EXAC_NFE_AF,ESPN
2356,1:6517388:G>T,NM_031475.2:c.2406-33G>T,\N,\N,11/12,Unknown significance,\N,intron_variant,2.475,0.0000150209,EXAC_NFE_AF,ESPN
2357,1:6517389:T>G,NM_031475.2:c.2406-32T>G,\N,\N,11/12,Benign,\N,intron_variant,0.362,0.02,OTO_TR_AF,ESPN
2358,1:6517390:A>G,NM_031475.2:c.2406-31A>G,\N,\N,11/12,Unknown significance,\N,intron_variant,4.956,0.00001502,EXAC_NFE_AF,ESPN
2359,1:6517398:A>G,NM_031475.2:c.2406-23A>G,\N,\N,11/12,Unknown significance,\N,intron_variant,8.964,\N,\N,ESPN
2360,1:6517405:C>CTCTT,NM_031475.2:c.2406-14_2406-11dup,\N,\N,11/12,Unknown significance,\N,intron_variant,20.2,0.000346821,EXAC_EAS_AF,ESPN
2361,1:6517406:TC>T,NM_031475.2:c.2406-14del,\N,\N,11/12,Unknown significance,\N,intron_variant,17.27,0.000302755,EXAC_FIN_AF,ESPN
2362,1:6517417:C>T,NM_031475.2:c.2406-4C>T,\N,\N,11/12,Unknown significance,\N,splice_region_variant&intron_variant,16.38,0.0008,1KG_AFR_AF,ESPN
2363,1:6517418:C>T,NM_031475.2:c.2406-3C>T,\N,\N,11/12,Unknown significance,\N,splice_region_variant&intron_variant,15.58,0.0025,OTO_AJ_AF,ESPN
2364,1:6517431:C>T,NM_031475.2:c.2416C>T,NP_113663.2:p.Arg806Trp,12/13,\N,Unknown significance,\N,missense_variant&splice_region_variant,34,0.00121065,EXAC_AMR_AF,ESPN
2365,1:6517432:G>A,NM_031475.2:c.2417G>A,NP_113663.2:p.Arg806Gln,12/13,\N,Unknown significance,\N,missense_variant&splice_region_variant,27.3,\N,\N,ESPN
2366,1:6517432:G>T,NM_031475.2:c.2417G>T,NP_113663.2:p.Arg806Leu,12/13,\N,Unknown significance,\N,missense_variant&splice_region_variant,32,0.0000450518,EXAC_NFE_AF,ESPN
2367,1:6517445:C>T,NM_031475.2:c.2417+13C>T,\N,\N,12/12,Unknown significance,\N,intron_variant,10.34,0.001,1KG_EAS_AF,ESPN
2368,1:6517454:A>C,NM_031475.2:c.2417+22A>C,\N,\N,12/12,Unknown significance,\N,intron_variant,12.29,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,ESPN
2369,1:6517456:C>T,NM_031475.2:c.2417+24C>T,\N,\N,12/12,Unknown significance,\N,intron_variant,12.93,0.0015,1KG_AFR_AF,ESPN
2370,1:6517458:G>A,NM_031475.2:c.2417+26G>A,\N,\N,12/12,Unknown significance,\N,intron_variant,14.45,0.0000150227,EXAC_NFE_AF,ESPN
2371,1:6517461:A>C,NM_031475.2:c.2417+29A>C,\N,\N,12/12,Unknown significance,\N,intron_variant,12.23,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,ESPN
2372,1:6517462:C>A,NM_031475.2:c.2417+30C>A,\N,\N,12/12,Unknown significance,\N,intron_variant,12.42,\N,\N,ESPN
2373,1:6517463:C>T,NM_031475.2:c.2417+31C>T,\N,\N,12/12,Unknown significance,\N,intron_variant,12.46,\N,\N,ESPN
2374,1:6517467:A>G,NM_031475.2:c.2417+35A>G,\N,\N,12/12,Unknown significance,\N,intron_variant,10.26,0.000060584,EXAC_SAS_AF,ESPN
2375,1:6517468:T>A,NM_031475.2:c.2417+36T>A,\N,\N,12/12,Unknown significance,\N,intron_variant,4.197,0.0000150245,EXAC_NFE_AF,ESPN
2376,1:6517469:C>G,NM_031475.2:c.2417+37C>G,\N,\N,12/12,Unknown significance,\N,intron_variant,7.974,0.00499319,EVS_AA_AF,ESPN
2377,1:6517472:C>CA,NM_031475.2:c.2417+41dup,\N,\N,12/12,Unknown significance,\N,intron_variant,\N,\N,\N,ESPN
2378,1:6517473:A>C,NM_031475.2:c.2417+41A>C,\N,\N,12/12,Unknown significance,\N,intron_variant,8.722,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,ESPN
2379,1:6517476:C>A,NM_031475.2:c.2417+44C>A,\N,\N,12/12,Unknown significance,\N,intron_variant,8.253,0.0000150353,EXAC_NFE_AF,ESPN
2380,1:6517476:C>G,NM_031475.2:c.2417+44C>G,\N,\N,12/12,Unknown significance,\N,intron_variant,6.429,0.0000605767,EXAC_SAS_AF,ESPN
2381,1:6517481:C>T,NM_031475.2:c.2417+49C>T,\N,\N,12/12,Unknown significance,\N,intron_variant,2.733,0.000116279,EVS_EA_AF,ESPN
2382,1:6517482:G>A,NM_031475.2:c.2417+50G>A,\N,\N,12/12,Unknown significance,\N,intron_variant,3.873,0.00260055,EXAC_AMR_AF,ESPN
2383,1:6517489:G>GTC,NM_031475.2:c.2417+58_2417+59dup,\N,\N,12/12,Unknown significance,\N,intron_variant,1.726,\N,\N,ESPN
2384,1:6517491:C>T,NM_031475.2:c.2417+59C>T,\N,\N,12/12,Unknown significance,\N,intron_variant,3.612,\N,\N,ESPN
2385,1:6517492:G>A,NM_031475.2:c.2417+60G>A,\N,\N,12/12,Unknown significance,\N,intron_variant,0.723,0.001,1KG_EAS_AF,ESPN
2386,1:6517519:C>T,NM_031475.2:c.2417+87C>T,\N,\N,12/12,Unknown significance,\N,intron_variant,5.237,\N,\N,ESPN
2387,1:6517535:G>C,NM_031475.2:c.2417+103G>C,\N,\N,12/12,Unknown significance,\N,intron_variant,0.374,\N,\N,ESPN
2388,1:6517552:C>T,NM_031475.2:c.2417+120C>T,\N,\N,12/12,Benign,\N,intron_variant,5.571,0.0295,1KG_AFR_AF,ESPN
2389,1:6517596:A>G,NM_031475.2:c.2417+164A>G,\N,\N,12/12,Unknown significance,\N,intron_variant,1.518,\N,\N,ESPN
2390,1:6517610:C>T,NM_031475.2:c.2417+178C>T,\N,\N,12/12,Benign,\N,intron_variant,0.117,0.0113,1KG_AFR_AF,ESPN
2391,1:6517638:C>T,NM_031475.2:c.2417+206C>T,\N,\N,12/12,Unknown significance,\N,intron_variant,2.661,0.0014,1KG_AMR_AF,ESPN
2392,1:6517648:T>G,NM_031475.2:c.2417+216T>G,\N,\N,12/12,Unknown significance,\N,intron_variant,2.776,0.003,1KG_EUR_AF,ESPN
2393,1:6517674:C>G,NM_031475.2:c.2417+242C>G,\N,\N,12/12,Unknown significance,\N,intron_variant,7.614,\N,\N,ESPN
2394,1:6517714:T>G,NM_031475.2:c.2417+282T>G,\N,\N,12/12,Unknown significance,\N,intron_variant,3.291,0.0008,1KG_AFR_AF,ESPN
2395,1:6517748:G>T,NM_031475.2:c.2417+316G>T,\N,\N,12/12,Unknown significance,\N,intron_variant,0.726,\N,\N,ESPN
2396,1:6517752:A>G,NM_031475.2:c.2417+320A>G,\N,\N,12/12,Unknown significance,\N,intron_variant,0.271,0.001,1KG_SAS_AF,ESPN
2397,1:6517779:T>C,NM_031475.2:c.2417+347T>C,\N,\N,12/12,Benign,\N,intron_variant,0.951,0.0371,1KG_AFR_AF,ESPN
2398,1:6517793:C>T,NM_031475.2:c.2417+361C>T,\N,\N,12/12,Unknown significance,\N,intron_variant,9.253,\N,\N,ESPN
2399,1:6517797:T>C,NM_031475.2:c.2417+365T>C,\N,\N,12/12,Unknown significance,\N,intron_variant,8.252,0.003,1KG_EAS_AF,ESPN
2400,1:6517813:G>A,NM_031475.2:c.2417+381G>A,\N,\N,12/12,Benign,\N,intron_variant,1.453,0.0215,1KG_SAS_AF,ESPN
2401,1:6517816:G>A,NM_031475.2:c.2417+384G>A,\N,\N,12/12,Benign,\N,intron_variant,4.945,0.0144,1KG_AFR_AF,ESPN
2402,1:6517824:T>C,NM_031475.2:c.2417+392T>C,\N,\N,12/12,Unknown significance,\N,intron_variant,6.202,0.001,1KG_EAS_AF,ESPN
2403,1:6517844:A>G,NM_031475.2:c.2417+412A>G,\N,\N,12/12,Unknown significance,\N,intron_variant,2.442,0.0015,1KG_AFR_AF,ESPN
2404,1:6517845:CTGTTT>C,NM_031475.2:c.2417+415_2417+419del,\N,\N,12/12,Unknown significance,\N,intron_variant,\N,\N,\N,ESPN
2405,1:6517887:CAT>C,NM_031475.2:c.2417+457_2417+458del,\N,\N,12/12,Unknown significance,\N,intron_variant,\N,\N,\N,ESPN
2406,1:6517924:T>G,NM_031475.2:c.2417+492T>G,\N,\N,12/12,Unknown significance,\N,intron_variant,0.534,0.001,1KG_SAS_AF,ESPN
2407,1:6518003:A>G,NM_031475.2:c.2417+571A>G,\N,\N,12/12,Benign,\N,intron_variant,1.34,0.0091,1KG_AFR_AF,ESPN
2408,1:6518010:C>T,NM_031475.2:c.2417+578C>T,\N,\N,12/12,Unknown significance,\N,intron_variant,0.14,0.0038,1KG_AFR_AF,ESPN
2409,1:6518028:C>T,NM_031475.2:c.2417+596C>T,\N,\N,12/12,Unknown significance,\N,intron_variant,0.959,\N,\N,ESPN
2410,1:6518043:G>A,NM_031475.2:c.2417+611G>A,\N,\N,12/12,Unknown significance,\N,intron_variant,2.472,\N,\N,ESPN
2411,1:6518064:C>T,NM_031475.2:c.2417+632C>T,\N,\N,12/12,Unknown significance,\N,intron_variant,0.12,\N,\N,ESPN
2412,1:6518067:C>A,NM_031475.2:c.2417+635C>A,\N,\N,12/12,Unknown significance,\N,intron_variant,0.002,\N,\N,ESPN
2413,1:6518068:G>GA,NM_031475.2:c.2417+657dup,\N,\N,12/12,Unknown significance,\N,intron_variant,0.444,\N,\N,ESPN
2414,1:6518068:GA>G,NM_031475.2:c.2417+657del,\N,\N,12/12,Unknown significance,\N,intron_variant,0.246,\N,\N,ESPN
2415,1:6518092:T>G,NM_031475.2:c.2417+660T>G,\N,\N,12/12,Benign,\N,intron_variant,0.911,0.0424,1KG_AFR_AF,ESPN
2416,1:6518106:G>T,NM_031475.2:c.2417+674G>T,\N,\N,12/12,Unknown significance,\N,intron_variant,0.084,\N,\N,ESPN
2417,1:6518113:C>T,NM_031475.2:c.2417+681C>T,\N,\N,12/12,Unknown significance,\N,intron_variant,2.765,0.001,1KG_EAS_AF,ESPN
2418,1:6518142:C>T,NM_031475.2:c.2417+710C>T,\N,\N,12/12,Benign,\N,intron_variant,0.084,0.0053,1KG_AFR_AF,ESPN
2419,1:6518143:G>T,NM_031475.2:c.2417+711G>T,\N,\N,12/12,Unknown significance,\N,intron_variant,0.56,0.001,1KG_SAS_AF,ESPN
2420,1:6518207:T>G,NM_031475.2:c.2417+775T>G,\N,\N,12/12,Unknown significance,\N,intron_variant,3.56,0.0045,1KG_AFR_AF,ESPN
2421,1:6518239:C>T,NM_031475.2:c.2417+807C>T,\N,\N,12/12,Benign,\N,intron_variant,3.375,0.0068,1KG_AFR_AF,ESPN
2422,1:6518268:G>A,NM_031475.2:c.2417+836G>A,\N,\N,12/12,Unknown significance,\N,intron_variant,1.42,0.001,1KG_EAS_AF,ESPN
2423,1:6518284:G>C,NM_031475.2:c.2417+852G>C,\N,\N,12/12,Unknown significance,\N,intron_variant,0.272,\N,\N,ESPN
2424,1:6518284:G>T,NM_031475.2:c.2417+852G>T,\N,\N,12/12,Unknown significance,\N,intron_variant,0.686,0.0015,1KG_AFR_AF,ESPN
2425,1:6518315:C>T,NM_031475.2:c.2417+883C>T,\N,\N,12/12,Unknown significance,\N,intron_variant,0.054,\N,\N,ESPN
2426,1:6518520:C>A,NM_031475.2:c.2417+1088C>A,\N,\N,12/12,Unknown significance,\N,intron_variant,1.246,0.001,1KG_EUR_AF,ESPN
2427,1:6518520:C>T,NM_031475.2:c.2417+1088C>T,\N,\N,12/12,Unknown significance,\N,intron_variant,1.167,\N,\N,ESPN
2428,1:6518522:C>T,NM_031475.2:c.2417+1090C>T,\N,\N,12/12,Benign,\N,intron_variant,2.03,0.0061,1KG_AFR_AF,ESPN
2429,1:6518523:C>G,NM_031475.2:c.2417+1091C>G,\N,\N,12/12,Benign,\N,intron_variant,0.599,0.0061,1KG_AFR_AF,ESPN
2430,1:6518524:C>T,NM_031475.2:c.2417+1092C>T,\N,\N,12/12,Unknown significance,\N,intron_variant,0.129,0.0008,1KG_AFR_AF,ESPN
2431,1:6518525:G>A,NM_031475.2:c.2417+1093G>A,\N,\N,12/12,Benign,\N,intron_variant,0.156,0.0061,1KG_AFR_AF,ESPN
2432,1:6518532:C>A,NM_031475.2:c.2417+1100C>A,\N,\N,12/12,Unknown significance,\N,intron_variant,0.121,\N,\N,ESPN
2433,1:6518536:C>T,NM_031475.2:c.2417+1104C>T,\N,\N,12/12,Unknown significance,\N,intron_variant,0.188,\N,\N,ESPN
2434,1:6518567:G>C,NM_031475.2:c.2417+1135G>C,\N,\N,12/12,Unknown significance,\N,intron_variant,0.18,\N,\N,ESPN
2435,1:6518578:G>A,NM_031475.2:c.2417+1146G>A,\N,\N,12/12,Benign,\N,intron_variant,1.056,0.0431,1KG_AFR_AF,ESPN
2436,1:6518586:G>T,NM_031475.2:c.2417+1154G>T,\N,\N,12/12,Unknown significance,\N,intron_variant,0.625,\N,\N,ESPN
2437,1:6518595:C>T,NM_031475.2:c.2417+1163C>T,\N,\N,12/12,Unknown significance,\N,intron_variant,3.129,\N,\N,ESPN
2438,1:6518596:G>A,NM_031475.2:c.2417+1164G>A,\N,\N,12/12,Unknown significance,\N,intron_variant,0.035,\N,\N,ESPN
2439,1:6518635:C>CT,NM_031475.2:c.2417+1203_2417+1204insT,\N,\N,12/12,Unknown significance,\N,intron_variant,4.662,0.0045,1KG_AFR_AF,ESPN
2440,1:6518655:C>T,NM_031475.2:c.2417+1223C>T,\N,\N,12/12,Unknown significance,\N,intron_variant,1.189,\N,\N,ESPN
2441,1:6518656:G>A,NM_031475.2:c.2417+1224G>A,\N,\N,12/12,Unknown significance,\N,intron_variant,0.632,0.001,1KG_EAS_AF,ESPN
2442,1:6518666:G>A,NM_031475.2:c.2417+1234G>A,\N,\N,12/12,Unknown significance,\N,intron_variant,1.371,\N,\N,ESPN
2443,1:6518678:C>CA,NM_031475.2:c.2417+1254dup,\N,\N,12/12,Benign,\N,intron_variant,1.91,0.0061,1KG_AFR_AF,ESPN
2444,1:6518686:A>T,NM_031475.2:c.2417+1254A>T,\N,\N,12/12,Unknown significance,\N,intron_variant,0.094,0.0014,1KG_AMR_AF,ESPN
2445,1:6518715:G>T,NM_031475.2:c.2417+1283G>T,\N,\N,12/12,Unknown significance,\N,intron_variant,0.239,0.0014,1KG_AMR_AF,ESPN
2446,1:6518717:G>A,NM_031475.2:c.2417+1285G>A,\N,\N,12/12,Unknown significance,\N,intron_variant,0.587,0.0023,1KG_AFR_AF,ESPN
2447,1:6518724:C>A,NM_031475.2:c.2417+1292C>A,\N,\N,12/12,Unknown significance,\N,intron_variant,1.329,\N,\N,ESPN
2448,1:6518762:G>A,NM_031475.2:c.2418-1297G>A,\N,\N,12/12,Unknown significance,\N,intron_variant,0.594,0.0023,1KG_AFR_AF,ESPN
2449,1:6518796:G>A,NM_031475.2:c.2418-1263G>A,\N,\N,12/12,Unknown significance,\N,intron_variant,2.846,0.003,1KG_AFR_AF,ESPN
2450,1:6518852:G>A,NM_031475.2:c.2418-1207G>A,\N,\N,12/12,Unknown significance,\N,intron_variant,0.625,\N,\N,ESPN
2451,1:6518874:C>A,NM_031475.2:c.2418-1185C>A,\N,\N,12/12,Unknown significance,\N,intron_variant,2.111,0.0015,1KG_AFR_AF,ESPN
2452,1:6518884:G>T,NM_031475.2:c.2418-1175G>T,\N,\N,12/12,Unknown significance,\N,intron_variant,0.037,0.001,1KG_EUR_AF,ESPN
2453,1:6518887:A>G,NM_031475.2:c.2418-1172A>G,\N,\N,12/12,Unknown significance,\N,intron_variant,2.445,0.001,1KG_SAS_AF,ESPN
2454,1:6518992:CA>C,NM_031475.2:c.2418-1052del,\N,\N,12/12,Benign,\N,intron_variant,4.447,0.6974,1KG_AFR_AF,ESPN
2455,1:6519017:C>T,NM_031475.2:c.2418-1042C>T,\N,\N,12/12,Unknown significance,\N,intron_variant,2.512,0.0031,1KG_SAS_AF,ESPN
2456,1:6519022:T>C,NM_031475.2:c.2418-1037T>C,\N,\N,12/12,Unknown significance,\N,intron_variant,0.065,0.0014,1KG_AMR_AF,ESPN
2457,1:6519028:C>T,NM_031475.2:c.2418-1031C>T,\N,\N,12/12,Unknown significance,\N,intron_variant,0.276,0.001,1KG_SAS_AF,ESPN
2458,1:6519058:T>C,NM_031475.2:c.2418-1001T>C,\N,\N,12/12,Benign,\N,intron_variant,5.469,0.0076,1KG_AFR_AF,ESPN
2459,1:6519112:C>T,NM_031475.2:c.2418-947C>T,\N,\N,12/12,Unknown significance,\N,intron_variant,0.424,0.0014,1KG_AMR_AF,ESPN
2460,1:6519114:A>G,NM_031475.2:c.2418-945A>G,\N,\N,12/12,Benign,\N,intron_variant,1.582,0.0809,1KG_AFR_AF,ESPN
2461,1:6519121:T>G,NM_031475.2:c.2418-938T>G,\N,\N,12/12,Unknown significance,\N,intron_variant,2.133,\N,\N,ESPN
2462,1:6519127:C>G,NM_031475.2:c.2418-932C>G,\N,\N,12/12,Unknown significance,\N,intron_variant,1.442,0.0015,1KG_AFR_AF,ESPN
2463,1:6519162:A>G,NM_031475.2:c.2418-897A>G,\N,\N,12/12,Unknown significance,\N,intron_variant,1.361,0.0023,1KG_AFR_AF,ESPN
2464,1:6519170:A>G,NM_031475.2:c.2418-889A>G,\N,\N,12/12,Benign,\N,intron_variant,0.499,0.7595,1KG_AFR_AF,ESPN
2465,1:6519172:G>A,NM_031475.2:c.2418-887G>A,\N,\N,12/12,Benign,\N,intron_variant,1.387,0.0189,1KG_AFR_AF,ESPN
2466,1:6519188:C>A,NM_031475.2:c.2418-871C>A,\N,\N,12/12,Unknown significance,\N,intron_variant,3.546,0.001,1KG_EAS_AF,ESPN
2467,1:6519210:A>C,NM_031475.2:c.2418-849A>C,\N,\N,12/12,Benign,\N,intron_variant,0.47,0.0151,1KG_AFR_AF,ESPN
2468,1:6519236:G>T,NM_031475.2:c.2418-823G>T,\N,\N,12/12,Unknown significance,\N,intron_variant,0.834,\N,\N,ESPN
2469,1:6519242:A>G,NM_031475.2:c.2418-817A>G,\N,\N,12/12,Benign,\N,intron_variant,0.496,0.0113,1KG_AFR_AF,ESPN
2470,1:6519249:C>T,NM_031475.2:c.2418-810C>T,\N,\N,12/12,Unknown significance,\N,intron_variant,0.031,0.002,1KG_EAS_AF,ESPN
2471,1:6519256:G>A,NM_031475.2:c.2418-803G>A,\N,\N,12/12,Benign,\N,intron_variant,0.134,0.0368,1KG_SAS_AF,ESPN
2472,1:6519258:G>A,NM_031475.2:c.2418-801G>A,\N,\N,12/12,Unknown significance,\N,intron_variant,1.822,0.003,1KG_AFR_AF,ESPN
2473,1:6519266:A>C,NM_031475.2:c.2418-793A>C,\N,\N,12/12,Benign,\N,intron_variant,0.814,0.0053,1KG_AFR_AF,ESPN
2474,1:6519304:T>TA,NM_031475.2:c.2418-741dup,\N,\N,12/12,Unknown significance,\N,intron_variant,2.071,\N,\N,ESPN
2475,1:6519304:TA>T,NM_031475.2:c.2418-741del,\N,\N,12/12,Benign,\N,intron_variant,6.824,0.6369,1KG_AFR_AF,ESPN
2476,1:6519318:A>T,NM_031475.2:c.2418-741A>T,\N,\N,12/12,Unknown significance,\N,intron_variant,1.006,\N,\N,ESPN
2477,1:6519319:T>A,NM_031475.2:c.2418-740T>A,\N,\N,12/12,Unknown significance,\N,intron_variant,2.249,\N,\N,ESPN
2478,1:6519327:C>T,NM_031475.2:c.2418-732C>T,\N,\N,12/12,Unknown significance,\N,intron_variant,0.782,0.001,1KG_EUR_AF,ESPN
2479,1:6519384:G>A,NM_031475.2:c.2418-675G>A,\N,\N,12/12,Unknown significance,\N,intron_variant,0.94,0.0008,1KG_AFR_AF,ESPN
2480,1:6519398:T>C,NM_031475.2:c.2418-661T>C,\N,\N,12/12,Benign,\N,intron_variant,1.748,0.0809,1KG_AFR_AF,ESPN
2481,1:6519400:G>A,NM_031475.2:c.2418-659G>A,\N,\N,12/12,Unknown significance,\N,intron_variant,2.108,0.0008,1KG_AFR_AF,ESPN
2482,1:6519453:G>A,NM_031475.2:c.2418-606G>A,\N,\N,12/12,Benign,\N,intron_variant,2.478,0.0209,1KG_EUR_AF,ESPN
2483,1:6519455:G>C,NM_031475.2:c.2418-604G>C,\N,\N,12/12,Unknown significance,\N,intron_variant,0.029,0.002,1KG_SAS_AF,ESPN
2484,1:6519458:C>T,NM_031475.2:c.2418-601C>T,\N,\N,12/12,Unknown significance,\N,intron_variant,3.421,\N,\N,ESPN
2485,1:6519462:A>T,NM_031475.2:c.2418-597A>T,\N,\N,12/12,Benign,\N,intron_variant,1.799,0.0885,1KG_AFR_AF,ESPN
2486,1:6519466:AAAT>A,NM_031475.2:c.2418-584_2418-582del,\N,\N,12/12,Unknown significance,\N,intron_variant,1.922,0.003,1KG_EUR_AF,ESPN
2487,1:6519490:G>A,NM_031475.2:c.2418-569G>A,\N,\N,12/12,Unknown significance,\N,intron_variant,1.202,\N,\N,ESPN
2488,1:6519501:C>T,NM_031475.2:c.2418-558C>T,\N,\N,12/12,Unknown significance,\N,intron_variant,0.776,\N,\N,ESPN
2489,1:6519536:C>T,NM_031475.2:c.2418-523C>T,\N,\N,12/12,Unknown significance,\N,intron_variant,3.705,\N,\N,ESPN
2490,1:6519553:T>C,NM_031475.2:c.2418-506T>C,\N,\N,12/12,Benign,\N,intron_variant,2.36,1,1KG_SAS_AF,ESPN
2491,1:6519580:A>G,NM_031475.2:c.2418-479A>G,\N,\N,12/12,Benign,\N,intron_variant,2.045,0.0215,1KG_SAS_AF,ESPN
2492,1:6519607:T>C,NM_031475.2:c.2418-452T>C,\N,\N,12/12,Benign,\N,intron_variant,5.724,0.0061,1KG_SAS_AF,ESPN
2493,1:6519708:C>T,NM_031475.2:c.2418-351C>T,\N,\N,12/12,Unknown significance,\N,intron_variant,7.277,\N,\N,ESPN
2494,1:6519711:C>G,NM_031475.2:c.2418-348C>G,\N,\N,12/12,Unknown significance,\N,intron_variant,5.761,0.001,1KG_SAS_AF,ESPN
2495,1:6519719:C>G,NM_031475.2:c.2418-340C>G,\N,\N,12/12,Unknown significance,\N,intron_variant,1.577,\N,\N,ESPN
2496,1:6519768:A>G,NM_031475.2:c.2418-291A>G,\N,\N,12/12,Unknown significance,\N,intron_variant,2.971,0.0023,1KG_AFR_AF,ESPN
2497,1:6519783:G>A,NM_031475.2:c.2418-276G>A,\N,\N,12/12,Unknown significance,\N,intron_variant,6.301,\N,\N,ESPN
2498,1:6519841:C>T,NM_031475.2:c.2418-218C>T,\N,\N,12/12,Unknown significance,\N,intron_variant,8.065,0.0029,1KG_AMR_AF,ESPN
2499,1:6519843:T>A,NM_031475.2:c.2418-216T>A,\N,\N,12/12,Unknown significance,\N,intron_variant,7.114,\N,\N,ESPN
2500,1:6519848:C>T,NM_031475.2:c.2418-211C>T,\N,\N,12/12,Unknown significance,\N,intron_variant,5.284,\N,\N,ESPN
2501,1:6519858:C>T,NM_031475.2:c.2418-201C>T,\N,\N,12/12,Unknown significance,\N,intron_variant,7.266,\N,\N,ESPN
2502,1:6519862:G>T,NM_031475.2:c.2418-197G>T,\N,\N,12/12,Unknown significance,\N,intron_variant,0.831,0.001,1KG_EAS_AF,ESPN
2503,1:6519878:G>A,NM_031475.2:c.2418-181G>A,\N,\N,12/12,Unknown significance,\N,intron_variant,3.672,\N,\N,ESPN
2504,1:6519889:C>T,NM_031475.2:c.2418-170C>T,\N,\N,12/12,Unknown significance,\N,intron_variant,7.258,0.001,1KG_EUR_AF,ESPN
2505,1:6519898:A>G,NM_031475.2:c.2418-161A>G,\N,\N,12/12,Unknown significance,\N,intron_variant,1.52,0.0045,1KG_AFR_AF,ESPN
2506,1:6519924:G>A,NM_031475.2:c.2418-135G>A,\N,\N,12/12,Unknown significance,\N,intron_variant,4.413,0.0015,1KG_AFR_AF,ESPN
2507,1:6519956:T>C,NM_031475.2:c.2418-103T>C,\N,\N,12/12,Unknown significance,\N,intron_variant,2.183,\N,\N,ESPN
2508,1:6519975:C>T,NM_031475.2:c.2418-84C>T,\N,\N,12/12,Unknown significance,\N,intron_variant,7.119,0.001,1KG_EAS_AF,ESPN
2509,1:6520009:G>T,NM_031475.2:c.2418-50G>T,\N,\N,12/12,Unknown significance,\N,intron_variant,5.64,0.0000158108,EXAC_NFE_AF,ESPN
2510,1:6520013:C>G,NM_031475.2:c.2418-46C>G,\N,\N,12/12,Unknown significance,\N,intron_variant,2.138,0.00399248,EXAC_EAS_AF,ESPN
2511,1:6520018:C>A,NM_031475.2:c.2418-41C>A,\N,\N,12/12,Unknown significance,\N,intron_variant,6.08,\N,\N,ESPN
2512,1:6520018:C>T,NM_031475.2:c.2418-41C>T,\N,\N,12/12,Unknown significance,\N,intron_variant,5.833,0.000061297,EXAC_SAS_AF,ESPN
2513,1:6520024:C>A,NM_031475.2:c.2418-35C>A,\N,\N,12/12,Benign,\N,intron_variant,10.19,0.100515,EXAC_FIN_AF,ESPN
2514,1:6520028:A>C,NM_031475.2:c.2418-31A>C,\N,\N,12/12,Unknown significance,\N,intron_variant,8.59,0.00070373,EXAC_EAS_AF,ESPN
2515,1:6520028:A>G,NM_031475.2:c.2418-31A>G,\N,\N,12/12,Unknown significance,\N,intron_variant,10.19,0.000489297,EXAC_SAS_AF,ESPN
2516,1:6520030:C>T,NM_031475.2:c.2418-29C>T,\N,\N,12/12,Unknown significance,\N,intron_variant,11.57,\N,\N,ESPN
2517,1:6520031:G>A,NM_031475.2:c.2418-28G>A,\N,\N,12/12,Unknown significance,\N,intron_variant,13.82,0.000226963,EVS_AA_AF,ESPN
2518,1:6520037:GC>G,NM_031475.2:c.2418-16del,\N,\N,12/12,Unknown significance,\N,intron_variant,13.8,\N,\N,ESPN
2519,1:6520038:C>T,NM_031475.2:c.2418-21C>T,\N,\N,12/12,Unknown significance,\N,intron_variant,14.54,\N,\N,ESPN
2520,1:6520039:C>G,NM_031475.2:c.2418-20C>G,\N,\N,12/12,Unknown significance,\N,intron_variant,11.74,0.000015647,EXAC_NFE_AF,ESPN
2521,1:6520039:C>T,NM_031475.2:c.2418-20C>T,\N,\N,12/12,Unknown significance,\N,intron_variant,13.22,0.00448852,EXAC_AFR_AF,ESPN
2522,1:6520041:C>G,NM_031475.2:c.2418-18C>G,\N,\N,12/12,Unknown significance,\N,intron_variant,11.25,0.000879044,EXAC_AMR_AF,ESPN
2523,1:6520042:C>G,NM_031475.2:c.2418-17C>G,\N,\N,12/12,Unknown significance,\N,intron_variant,10.5,0.002,1KG_EAS_AF,ESPN
2524,1:6520042:C>T,NM_031475.2:c.2418-17C>T,\N,\N,12/12,Unknown significance,\N,intron_variant,11.86,0.000015625,EXAC_NFE_AF,ESPN
2525,1:6520043:C>T,NM_031475.2:c.2418-16C>T,\N,\N,12/12,Unknown significance,\N,intron_variant,6.752,0.000116959,EXAC_EAS_AF,ESPN
2526,1:6520047:C>T,NM_031475.2:c.2418-12C>T,\N,\N,12/12,Unknown significance,\N,intron_variant,9.242,\N,\N,ESPN
2527,1:6520052:G>A,NM_031475.2:c.2418-7G>A,\N,\N,12/12,Unknown significance,\N,splice_region_variant&intron_variant,2.456,0.000157233,EXAC_FIN_AF,ESPN
2528,1:6520061:A>G,NM_031475.2:c.2420A>G,NP_113663.2:p.Lys807Arg,13/13,\N,Unknown significance,\N,missense_variant&splice_region_variant,27.1,\N,\N,ESPN
2529,1:6520062:AGAG>A,NM_031475.2:c.2428_2430del,NP_113663.2:p.Glu810del,13/13,\N,Unknown significance,\N,inframe_deletion,20.2,0.0000154957,EXAC_NFE_AF,ESPN
2530,1:6520065:G>A,NM_031475.2:c.2424G>A,NP_113663.2:p.Glu808=,13/13,\N,Unknown significance,\N,synonymous_variant,10.49,0.0000607312,EXAC_SAS_AF,ESPN
2531,1:6520073:G>A,NM_031475.2:c.2432G>A,NP_113663.2:p.Arg811Gln,13/13,\N,Likely benign,\N,missense_variant,23.4,0.0000308804,EXAC_NFE_AF,ESPN
2532,1:6520081:C>T,NM_031475.2:c.2440C>T,NP_113663.2:p.Gln814Ter,13/13,\N,Pathogenic,Hearing loss| non-syndromic| autosomal recessive,stop_gained,39,\N,\N,ESPN
2533,1:6520083:G>C,NM_031475.2:c.2442G>C,NP_113663.2:p.Gln814His,13/13,\N,Unknown significance,\N,missense_variant,25.5,0.0008,1KG_AFR_AF,ESPN
2534,1:6520088:A>G,NM_031475.2:c.2447A>G,NP_113663.2:p.Glu816Gly,13/13,\N,Unknown significance,\N,missense_variant,23.5,0.001,1KG_EAS_AF,ESPN
2535,1:6520088:A>T,NM_031475.2:c.2447A>T,NP_113663.2:p.Glu816Val,13/13,\N,Unknown significance,\N,missense_variant,23.5,0.0000606428,EXAC_SAS_AF,ESPN
2536,1:6520095:G>C,NM_031475.2:c.2454G>C,NP_113663.2:p.Arg818=,13/13,\N,Unknown significance,\N,synonymous_variant,11.55,0.0000154626,EXAC_NFE_AF,ESPN
2537,1:6520096:C>T,NM_031475.2:c.2455C>T,NP_113663.2:p.Arg819Trp,13/13,\N,Unknown significance,\N,missense_variant,34,0.000182061,EXAC_SAS_AF,ESPN
2538,1:6520100:A>G,NM_031475.2:c.2459A>G,NP_113663.2:p.Glu820Gly,13/13,\N,Benign,\N,missense_variant,24.9,0.015,OTO_TR_AF,ESPN
2539,1:6520107:ACAGT>A,NM_031475.2:c.2470_2473del,NP_113663.2:p.Ser824ArgfsTer22,13/13,\N,Pathogenic,Deafness and vestibular areflexia,frameshift_variant,35,\N,\N,ESPN
2540,1:6520109:A>G,NM_031475.2:c.2468A>G,NP_113663.2:p.Gln823Arg,13/13,\N,Unknown significance,\N,missense_variant,26.7,0.001,1KG_SAS_AF,ESPN
2541,1:6520114:G>A,NM_031475.2:c.2473G>A,NP_113663.2:p.Glu825Lys,13/13,\N,Unknown significance,\N,missense_variant,34,0.000200401,EXAC_AFR_AF,ESPN
2542,1:6520123:C>A,NM_031475.2:c.2482C>A,NP_113663.2:p.Arg828=,13/13,\N,Unknown significance,\N,synonymous_variant,22.1,0.0000873668,EXAC_AMR_AF,ESPN
2543,1:6520124:G>C,NM_031475.2:c.2483G>C,NP_113663.2:p.Arg828Pro,13/13,\N,Unknown significance,\N,missense_variant,34,0.0000997606,EXAC_AFR_AF,ESPN
2544,1:6520124:GGAC>G,NM_031475.2:c.2485_2487del,NP_113663.2:p.Thr829del,13/13,\N,Unknown significance,\N,inframe_deletion,18.15,0.0000153695,EXAC_NFE_AF,ESPN
2545,1:6520127:C>T,NM_031475.2:c.2486C>T,NP_113663.2:p.Thr829Met,13/13,\N,Unknown significance,\N,missense_variant,34,0.00295186,EVS_AA_AF,ESPN
2546,1:6520132:G>A,NM_031475.2:c.2491G>A,NP_113663.2:p.Gly831Ser,13/13,\N,Unknown significance,\N,missense_variant,33,0.00114679,EXAC_OTH_AF,ESPN
2547,1:6520136:AC>A,NM_031475.2:c.2496del,NP_113663.2:p.Tyr832Ter,13/13,\N,Unknown significance,\N,frameshift_variant,33,0.0000606208,EXAC_SAS_AF,ESPN
2548,1:6520137:C>A,NM_031475.2:c.2496C>A,NP_113663.2:p.Tyr832Ter,13/13,\N,Unknown significance,\N,stop_gained,38,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,ESPN
2549,1:6520139:A>C,NM_031475.2:c.2498A>C,NP_113663.2:p.Asp833Ala,13/13,\N,Unknown significance,\N,missense_variant,29.6,0.0000306523,EXAC_NFE_AF,ESPN
2550,1:6520145:G>A,NM_031475.2:c.2504G>A,NP_113663.2:p.Ser835Asn,13/13,\N,Unknown significance,\N,missense_variant,23.2,0.000397062,EXAC_AFR_AF,ESPN
2551,1:6520148:A>C,NM_031475.2:c.2507A>C,NP_113663.2:p.Lys836Thr,13/13,\N,Unknown significance,\N,missense_variant,28.8,0.000116414,EXAC_EAS_AF,ESPN
2552,1:6520154:C>A,NM_031475.2:c.2513C>A,NP_113663.2:p.Ala838Glu,13/13,\N,Unknown significance,\N,missense_variant,34,0.001,1KG_EAS_AF,ESPN
2553,1:6520155:G>A,NM_031475.2:c.2514G>A,NP_113663.2:p.Ala838=,13/13,\N,Unknown significance,\N,synonymous_variant,14.34,0.0000991867,EXAC_AFR_AF,ESPN
2554,1:6520155:G>T,NM_031475.2:c.2514G>T,NP_113663.2:p.Ala838=,13/13,\N,Unknown significance,\N,synonymous_variant,12.61,0.0000153172,EXAC_NFE_AF,ESPN
2555,1:6520157:C>T,NM_031475.2:c.2516C>T,NP_113663.2:p.Pro839Leu,13/13,\N,Unknown significance,\N,missense_variant,34,0.0000153153,EXAC_NFE_AF,ESPN
2556,1:6520166:G>T,NM_031475.2:c.2525G>T,NP_113663.2:p.Arg842Leu,13/13,\N,Unknown significance,\N,missense_variant,34,0.000121212,EXAC_SAS_AF,ESPN
2557,1:6520168:C>G,NM_031475.2:c.2527C>G,NP_113663.2:p.Gln843Glu,13/13,\N,Unknown significance,\N,missense_variant,27.8,0.0000991277,EXAC_AFR_AF,ESPN
2558,1:6520171:G>A,NM_031475.2:c.2530G>A,NP_113663.2:p.Val844Ile,13/13,\N,Likely benign,\N,missense_variant,13.4,0.001,1KG_EAS_AF,ESPN
2559,1:6520178:TGAA>T,NM_031475.2:c.2542_2544del,NP_113663.2:p.Lys848del,13/13,\N,Pathogenic,Hearing loss| autosomal dominant,inframe_deletion,20.8,\N,\N,ESPN
2560,1:6520181:A>G,NM_031475.2:c.2540A>G,NP_113663.2:p.Lys847Arg,13/13,\N,Unknown significance,\N,missense_variant,27.9,0.0000606355,EXAC_SAS_AF,ESPN
2561,1:6520182:G>T,NM_031475.2:c.2541G>T,NP_113663.2:p.Lys847Asn,13/13,\N,Unknown significance,\N,missense_variant,33,0.0000606355,EXAC_SAS_AF,ESPN
2562,1:6520185:G>A,NM_031475.2:c.2544G>A,NP_113663.2:p.Lys848=,13/13,\N,Unknown significance,\N,synonymous_variant,14.47,0.0000872296,EXAC_AMR_AF,ESPN
2563,1:6520186:G>T,NM_031475.2:c.2545G>T,NP_113663.2:p.Gly849Trp,13/13,\N,Unknown significance,\N,missense_variant,34,0.001,1KG_EAS_AF,ESPN
2564,1:6520189:G>A,NM_031475.2:c.2548G>A,NP_113663.2:p.Asp850Asn,13/13,\N,Unknown significance,\N,missense_variant,33,0.000226963,EVS_AA_AF,ESPN
2565,1:6520193:T>G,NM_031475.2:c.2552T>G,NP_113663.2:p.Ile851Ser,13/13,\N,Unknown significance,\N,missense_variant,33,0.0000307484,EXAC_NFE_AF,ESPN
2566,1:6520194:C>G,NM_031475.2:c.2553C>G,NP_113663.2:p.Ile851Met,13/13,\N,Likely benign,\N,missense_variant,24.4,\N,\N,ESPN
2567,1:6520195:G>A,NM_031475.2:c.2554G>A,NP_113663.2:p.Ala852Thr,13/13,\N,Unknown significance,\N,missense_variant,25.3,0.0000607533,EXAC_SAS_AF,ESPN
2568,1:6520198:A>G,NM_031475.2:c.2557A>G,NP_113663.2:p.Lys853Glu,13/13,\N,Unknown significance,\N,missense_variant,31,0.001,1KG_EAS_AF,ESPN
2569,1:6520200:G>A,NM_031475.2:c.2559G>A,NP_113663.2:p.Lys853=,13/13,\N,Unknown significance,\N,synonymous_variant,14.84,0.000907853,EVS_AA_AF,ESPN
2570,1:6520202:A>G,NM_031475.2:c.2561A>G,NP_113663.2:p.Tyr854Cys,13/13,\N,Unknown significance,\N,missense_variant,27.1,0.000116306,EVS_EA_AF,ESPN
2571,1:6520206:G>A,NM_031475.2:c.2565G>A,NP_113663.2:p.Ter855=,13/13,\N,Unknown significance,\N,stop_retained_variant,11.92,0.0008,1KG_AFR_AF,ESPN
2572,1:6520210:C>A,NM_031475.2:c.*4C>A,\N,13/13,\N,Unknown significance,\N,3_prime_UTR_variant,4.715,0.0000876271,EXAC_AMR_AF,ESPN
2573,1:6520210:C>T,NM_031475.2:c.*4C>T,\N,13/13,\N,Unknown significance,\N,3_prime_UTR_variant,4.68,0.0014,1KG_AMR_AF,ESPN
2574,1:6520212:G>A,NM_031475.2:c.*6G>A,\N,13/13,\N,Benign,\N,3_prime_UTR_variant,2.504,0.006,1KG_EAS_AF,ESPN
2575,1:6520215:G>A,NM_031475.2:c.*9G>A,\N,13/13,\N,Unknown significance,\N,3_prime_UTR_variant,3.503,0.001,1KG_SAS_AF,ESPN
2576,1:6520216:A>C,NM_031475.2:c.*10A>C,\N,13/13,\N,Unknown significance,\N,3_prime_UTR_variant,0.284,0.000185254,EXAC_SAS_AF,ESPN
2577,1:6520216:A>T,NM_031475.2:c.*10A>T,\N,13/13,\N,Unknown significance,\N,3_prime_UTR_variant,0.383,0.0000617513,EXAC_SAS_AF,ESPN
2578,1:6520217:C>G,NM_031475.2:c.*11C>G,\N,13/13,\N,Unknown significance,\N,3_prime_UTR_variant,4.249,0.000123824,EXAC_SAS_AF,ESPN
2579,1:6520217:C>T,NM_031475.2:c.*11C>T,\N,13/13,\N,Unknown significance,\N,3_prime_UTR_variant,5.825,0.0000156055,EXAC_NFE_AF,ESPN
2580,1:6520220:C>G,NM_031475.2:c.*14C>G,\N,13/13,\N,Unknown significance,\N,3_prime_UTR_variant,2.109,0.000015649,EXAC_NFE_AF,ESPN
2581,1:6520225:C>G,NM_031475.2:c.*19C>G,\N,13/13,\N,Unknown significance,\N,3_prime_UTR_variant,5.232,0.004,1KG_EAS_AF,ESPN
2582,1:6520226:G>A,NM_031475.2:c.*20G>A,\N,13/13,\N,Unknown significance,\N,3_prime_UTR_variant,5.919,0.0000881213,EXAC_AMR_AF,ESPN
2583,1:6520227:CA>C,NM_031475.2:c.*22del,\N,13/13,\N,Unknown significance,\N,3_prime_UTR_variant,6.651,0.0000157639,EXAC_NFE_AF,ESPN
2584,1:6520242:G>C,NM_031475.2:c.*36G>C,\N,13/13,\N,Unknown significance,\N,3_prime_UTR_variant,1.712,0.0000886839,EXAC_AMR_AF,ESPN
2585,1:6520251:T>C,NM_031475.2:c.*45T>C,\N,13/13,\N,Unknown significance,\N,3_prime_UTR_variant,0.215,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,ESPN
2586,1:6520252:C>G,NM_031475.2:c.*46C>G,\N,13/13,\N,Unknown significance,\N,3_prime_UTR_variant,3.554,0.000116279,EVS_EA_AF,ESPN
2587,1:6520254:G>A,NM_031475.2:c.*48G>A,\N,13/13,\N,Unknown significance,\N,3_prime_UTR_variant,3.816,0.0000169045,EXAC_NFE_AF,ESPN
2588,1:6520256:C>T,NM_031475.2:c.*50C>T,\N,13/13,\N,Unknown significance,\N,3_prime_UTR_variant,6.348,0.0000166019,EXAC_NFE_AF,ESPN
2589,1:6520282:T>G,NM_031475.2:c.*76T>G,\N,13/13,\N,Unknown significance,\N,3_prime_UTR_variant,0.908,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,ESPN
2590,1:6520297:C>G,NM_031475.2:c.*91C>G,\N,13/13,\N,Benign,\N,3_prime_UTR_variant,4.262,0.0215,1KG_SAS_AF,ESPN
2591,1:6520312:C>T,NM_031475.2:c.*106C>T,\N,13/13,\N,Benign,\N,3_prime_UTR_variant,5.393,0.125,OTO_US_AF,ESPN
2592,1:6520315:C>T,NM_031475.2:c.*109C>T,\N,13/13,\N,Unknown significance,\N,3_prime_UTR_variant,8.079,0.0015,1KG_AFR_AF,ESPN
2593,1:6520326:A>C,NM_031475.2:c.*120A>C,\N,13/13,\N,Unknown significance,\N,3_prime_UTR_variant,1.862,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,ESPN
2594,1:6520336:A>C,NM_031475.2:c.*130A>C,\N,13/13,\N,Unknown significance,\N,3_prime_UTR_variant,8.811,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,ESPN
2595,1:6520342:A>C,NM_031475.2:c.*136A>C,\N,13/13,\N,Unknown significance,\N,3_prime_UTR_variant,8.769,0.003125,OTO_US_AF,ESPN
2596,1:6520380:G>A,NM_031475.2:c.*174G>A,\N,13/13,\N,Unknown significance,\N,3_prime_UTR_variant,4.529,0.001,1KG_SAS_AF,ESPN
2597,1:6520383:T>G,NM_031475.2:c.*177T>G,\N,13/13,\N,Unknown significance,\N,3_prime_UTR_variant,3.044,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,ESPN
2598,1:6520392:C>T,NM_031475.2:c.*186C>T,\N,13/13,\N,Unknown significance,\N,3_prime_UTR_variant,6.823,0.001,1KG_EUR_AF,ESPN
2599,1:6520393:G>A,NM_031475.2:c.*187G>A,\N,13/13,\N,Benign,\N,3_prime_UTR_variant,5.276,0.005,OTO_TR_AF,ESPN
2600,1:6520398:G>A,NM_031475.2:c.*192G>A,\N,13/13,\N,Unknown significance,\N,3_prime_UTR_variant,0.465,\N,\N,ESPN
2601,1:6520432:AAAC>A,NM_031475.2:c.*235_*237del,\N,13/13,\N,Unknown significance,\N,3_prime_UTR_variant,7.847,0.003,1KG_EAS_AF,ESPN
2602,1:6520470:C>G,NM_031475.2:c.*264C>G,\N,13/13,\N,Unknown significance,\N,3_prime_UTR_variant,10.78,0.0041,1KG_SAS_AF,ESPN
2603,1:6520481:A>G,NM_031475.2:c.*275A>G,\N,13/13,\N,Unknown significance,\N,3_prime_UTR_variant,8.064,\N,\N,ESPN
2604,1:6520527:G>A,NM_031475.2:c.*321G>A,\N,13/13,\N,Unknown significance,\N,3_prime_UTR_variant,8.1,0.0014,1KG_AMR_AF,ESPN
2605,1:6520528:G>A,NM_031475.2:c.*322G>A,\N,13/13,\N,Unknown significance,\N,3_prime_UTR_variant,6.594,\N,\N,ESPN
2606,1:6520535:C>T,NM_031475.2:c.*329C>T,\N,13/13,\N,Unknown significance,\N,3_prime_UTR_variant,9.444,\N,\N,ESPN
2607,1:6520542:T>C,NM_031475.2:c.*336T>C,\N,13/13,\N,Unknown significance,\N,3_prime_UTR_variant,3.251,\N,\N,ESPN
2608,1:6520552:G>A,NM_031475.2:c.*346G>A,\N,13/13,\N,Unknown significance,\N,3_prime_UTR_variant,4.026,0.001,1KG_SAS_AF,ESPN
2609,1:6520561:C>G,NM_031475.2:c.*355C>G,\N,13/13,\N,Unknown significance,\N,3_prime_UTR_variant,2.106,0.001,1KG_SAS_AF,ESPN
2610,1:6520585:C>T,NM_031475.2:c.*379C>T,\N,13/13,\N,Unknown significance,\N,3_prime_UTR_variant,18.15,0.0014,1KG_AMR_AF,ESPN
2611,1:6520588:A>C,NM_031475.2:c.*382A>C,\N,13/13,\N,Unknown significance,\N,3_prime_UTR_variant,12.94,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,ESPN
2612,1:6520611:G>A,NM_031475.2:c.*405G>A,\N,13/13,\N,Unknown significance,\N,3_prime_UTR_variant,16.13,\N,\N,ESPN
2613,1:6520611:G>C,NM_031475.2:c.*405G>C,\N,13/13,\N,Unknown significance,\N,3_prime_UTR_variant,14.24,0.003,1KG_EUR_AF,ESPN
2614,1:6520621:T>G,NM_031475.2:c.*415T>G,\N,13/13,\N,Unknown significance,\N,3_prime_UTR_variant,15.74,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,ESPN
2615,1:6520631:C>A,NM_031475.2:c.*425C>A,\N,13/13,\N,Unknown significance,\N,3_prime_UTR_variant,17.88,\N,\N,ESPN
2616,1:6520639:T>G,NM_031475.2:c.*433T>G,\N,13/13,\N,Unknown significance,\N,3_prime_UTR_variant,14.95,0.0025,OTO_JP_AF,ESPN
2617,1:6520640:C>A,NM_031475.2:c.*434C>A,\N,13/13,\N,Benign,\N,3_prime_UTR_variant,17.17,0.01,OTO_AJ_AF,ESPN
2618,1:6520645:A>G,NM_031475.2:c.*439A>G,\N,13/13,\N,Unknown significance,\N,3_prime_UTR_variant,13.06,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,ESPN
2619,1:6520651:T>G,NM_031475.2:c.*445T>G,\N,13/13,\N,Benign,\N,3_prime_UTR_variant,14.32,0.08,OTO_TR_AF,ESPN
2620,1:6520668:A>C,NM_031475.2:c.*462A>C,\N,13/13,\N,Benign,\N,3_prime_UTR_variant,7.947,0.06,OTO_TR_AF,ESPN
2621,1:6520684:G>T,NM_031475.2:c.*478G>T,\N,13/13,\N,Unknown significance,\N,3_prime_UTR_variant,0.968,\N,\N,ESPN
2622,1:6520693:C>T,NM_031475.2:c.*487C>T,\N,13/13,\N,Unknown significance,\N,3_prime_UTR_variant,7.229,0.001,1KG_SAS_AF,ESPN
2623,1:6520694:G>A,NM_031475.2:c.*488G>A,\N,13/13,\N,Benign,\N,3_prime_UTR_variant,3.873,0.00555556,OTO_ES_AF,ESPN
2624,1:6520697:C>G,NM_031475.2:c.*491C>G,\N,13/13,\N,Unknown significance,\N,3_prime_UTR_variant,4.648,0.0008,1KG_AFR_AF,ESPN
2625,1:6520729:T>G,NM_031475.2:c.*523T>G,\N,13/13,\N,Unknown significance,\N,3_prime_UTR_variant,14.59,0.003125,OTO_US_AF,ESPN
2626,1:6520758:A>C,NM_031475.2:c.*552A>C,\N,13/13,\N,Unknown significance,\N,3_prime_UTR_variant,0.346,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,ESPN
2627,1:6520772:CG>C,NM_031475.2:c.*569del,\N,13/13,\N,Unknown significance,\N,3_prime_UTR_variant,7.898,\N,\N,ESPN
2628,1:6520775:G>A,NM_031475.2:c.*569G>A,\N,13/13,\N,Benign,\N,3_prime_UTR_variant,6.805,0.0076,1KG_AFR_AF,ESPN
2629,1:6520787:G>GC,NM_031475.2:c.*586dup,\N,13/13,\N,Unknown significance,\N,3_prime_UTR_variant,6.141,\N,\N,ESPN
2630,1:6520792:C>A,NM_031475.2:c.*586C>A,\N,13/13,\N,Benign,\N,3_prime_UTR_variant,4.297,0.00625,OTO_CO_AF,ESPN
2631,1:6520796:A>C,NM_031475.2:c.*590A>C,\N,13/13,\N,Benign,\N,3_prime_UTR_variant,2.468,0.02,OTO_TR_AF,ESPN
2632,1:6520801:A>C,NM_031475.2:c.*595A>C,\N,13/13,\N,Benign,\N,3_prime_UTR_variant,4.407,0.015,OTO_TR_AF,ESPN
2633,1:6520813:A>C,NM_031475.2:c.*607A>C,\N,13/13,\N,Benign,\N,3_prime_UTR_variant,8.737,0.02,OTO_TR_AF,ESPN
2634,1:6520833:CCGT>C,NM_031475.2:c.*629_*631del,\N,13/13,\N,Unknown significance,\N,3_prime_UTR_variant,\N,\N,\N,ESPN
2635,1:6520841:A>G,NM_031475.2:c.*635A>G,\N,13/13,\N,Unknown significance,\N,3_prime_UTR_variant,7.963,0.0015,1KG_AFR_AF,ESPN
2636,1:6520871:C>T,NM_031475.2:c.*665C>T,\N,13/13,\N,Unknown significance,\N,3_prime_UTR_variant,7.606,0.001,1KG_SAS_AF,ESPN
2637,1:6520881:G>A,NM_031475.2:c.*675G>A,\N,13/13,\N,Benign,\N,3_prime_UTR_variant,7.79,0.025,1KG_AFR_AF,ESPN
2638,1:6520887:T>G,NM_031475.2:c.*681T>G,\N,13/13,\N,Benign,\N,3_prime_UTR_variant,7.154,0.005,OTO_TR_AF,ESPN
2639,1:6520899:G>A,NM_031475.2:c.*693G>A,\N,13/13,\N,Unknown significance,\N,3_prime_UTR_variant,6.428,0.00277778,OTO_ES_AF,ESPN
2640,1:6520910:A>C,NM_031475.2:c.*704A>C,\N,13/13,\N,Unknown significance,\N,3_prime_UTR_variant,2.805,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,ESPN
2641,1:6520919:C>T,NM_031475.2:c.*713C>T,\N,13/13,\N,Unknown significance,\N,3_prime_UTR_variant,7.517,\N,\N,ESPN
2642,1:6520932:A>C,NM_031475.2:c.*726A>C,\N,13/13,\N,Benign,\N,3_prime_UTR_variant,1.939,0.02,OTO_TR_AF,ESPN
2643,1:6520942:G>T,NM_031475.2:c.*736G>T,\N,13/13,\N,Benign,\N,3_prime_UTR_variant,5.279,0.0125,OTO_US_AF,ESPN
2644,1:6520943:A>AC,NM_031475.2:c.*740dup,\N,13/13,\N,Unknown significance,\N,3_prime_UTR_variant,5.959,\N,\N,ESPN
2645,1:6520943:A>C,NM_031475.2:c.*737A>C,\N,13/13,\N,Unknown significance,\N,3_prime_UTR_variant,6.606,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,ESPN
2646,1:6520949:T>G,NM_031475.2:c.*743T>G,\N,13/13,\N,Unknown significance,\N,3_prime_UTR_variant,5.338,\N,\N,ESPN
2647,1:6520957:A>C,NM_031475.2:c.*751A>C,\N,13/13,\N,Unknown significance,\N,3_prime_UTR_variant,0.289,0,OTO_ALL_AF|OTO_AJ_AF|OTO_CO_AF|OTO_US_AF|OTO_JP_AF|OTO_ES_AF|OTO_TR_AF,ESPN
2648,1:6520967:C>T,NM_031475.2:c.*761C>T,\N,13/13,\N,Unknown significance,\N,3_prime_UTR_variant,14.87,0.003125,OTO_CO_AF,ESPN
2649,1:6520970:A>G,NM_031475.2:c.*764A>G,\N,13/13,\N,Unknown significance,\N,3_prime_UTR_variant,13.72,0.001,1KG_EAS_AF,ESPN
2650,1:6520977:C>G,NM_031475.2:c.*771C>G,\N,13/13,\N,Unknown significance,\N,3_prime_UTR_variant,13.85,0.0008,1KG_AFR_AF,ESP