id,variation,pos,vep_feature,vep_hgvs_c,vep_hgvs_p,vep_protein_pos,vep_exon,vep_intron,final_pathogenicity,final_disease,vep_consequence,vep_impact,dbnsfp_interpro_domain,vep_motif_name,vep_cadd_phred,overall_max_maf,overall_max_maf_source,gene
624067,4:88529765:C>T,88529765,NM_014208.3,NM_014208.3:c.-36C>T,\N,\N,1/5,\N,Unknown significance,\N,5_prime_UTR_variant,MODIFIER,\N,\N,15.55,0.001,1KG_EAS_AF,DSPP
624068,4:88529779:T>C,88529779,NM_014208.3,NM_014208.3:c.-29+7T>C,\N,\N,\N,1/4,Benign,\N,splice_region_variant&intron_variant,LOW,\N,\N,2.888,0.006,1KG_EAS_AF,DSPP
624069,4:88529788:C>T,88529788,NM_014208.3,NM_014208.3:c.-29+16C>T,\N,\N,\N,1/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.129,0.001,1KG_SAS_AF,DSPP
624070,4:88529825:CTT>C,88529825,NM_014208.3,NM_014208.3:c.-29+55_-29+56del,\N,\N,\N,1/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.552,\N,\N,DSPP
624071,4:88529865:C>T,88529865,NM_014208.3,NM_014208.3:c.-29+93C>T,\N,\N,\N,1/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.027,0.002,1KG_SAS_AF,DSPP
624072,4:88529866:G>A,88529866,NM_014208.3,NM_014208.3:c.-29+94G>A,\N,\N,\N,1/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.002,0.001,1KG_EUR_AF,DSPP
624073,4:88529869:T>C,88529869,NM_014208.3,NM_014208.3:c.-29+97T>C,\N,\N,\N,1/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.063,\N,\N,DSPP
624074,4:88529897:C>T,88529897,NM_014208.3,NM_014208.3:c.-29+125C>T,\N,\N,\N,1/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.292,0.001,1KG_EAS_AF,DSPP
624075,4:88529920:A>G,88529920,NM_014208.3,NM_014208.3:c.-29+148A>G,\N,\N,\N,1/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.629,\N,\N,DSPP
624076,4:88529924:T>C,88529924,NM_014208.3,NM_014208.3:c.-29+152T>C,\N,\N,\N,1/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.037,\N,\N,DSPP
624077,4:88529938:C>T,88529938,NM_014208.3,NM_014208.3:c.-29+166C>T,\N,\N,\N,1/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.729,\N,\N,DSPP
624078,4:88529939:G>A,88529939,NM_014208.3,NM_014208.3:c.-29+167G>A,\N,\N,\N,1/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.858,\N,\N,DSPP
624079,4:88529942:C>A,88529942,NM_014208.3,NM_014208.3:c.-29+170C>A,\N,\N,\N,1/4,Benign,\N,intron_variant,MODIFIER,\N,\N,0.75,0.0215,1KG_SAS_AF,DSPP
624080,4:88529943:A>G,88529943,NM_014208.3,NM_014208.3:c.-29+171A>G,\N,\N,\N,1/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.782,\N,\N,DSPP
624081,4:88529948:C>T,88529948,NM_014208.3,NM_014208.3:c.-29+176C>T,\N,\N,\N,1/4,Benign,\N,intron_variant,MODIFIER,\N,\N,1.787,0.0877,1KG_AFR_AF,DSPP
624082,4:88529964:T>C,88529964,NM_014208.3,NM_014208.3:c.-29+192T>C,\N,\N,\N,1/4,Benign,\N,intron_variant,MODIFIER,\N,\N,8.442,0.0696,1KG_AFR_AF,DSPP
624083,4:88529987:C>T,88529987,NM_014208.3,NM_014208.3:c.-29+215C>T,\N,\N,\N,1/4,Benign,\N,intron_variant,MODIFIER,\N,\N,2.31,0.0567,1KG_AFR_AF,DSPP
624084,4:88529991:C>T,88529991,NM_014208.3,NM_014208.3:c.-29+219C>T,\N,\N,\N,1/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.67,\N,\N,DSPP
624085,4:88530003:C>T,88530003,NM_014208.3,NM_014208.3:c.-29+231C>T,\N,\N,\N,1/4,Benign,\N,intron_variant,MODIFIER,\N,\N,7.117,0.0256,1KG_SAS_AF,DSPP
624086,4:88530020:T>G,88530020,NM_014208.3,NM_014208.3:c.-29+248T>G,\N,\N,\N,1/4,Benign,\N,intron_variant,MODIFIER,\N,\N,5.132,0.0545,1KG_AFR_AF,DSPP
624087,4:88530024:CA>C,88530024,NM_014208.3,NM_014208.3:c.-29+254del,\N,\N,\N,1/4,Benign,\N,intron_variant,MODIFIER,\N,\N,6.523,0.0112,1KG_SAS_AF,DSPP
624088,4:88530058:T>C,88530058,NM_014208.3,NM_014208.3:c.-29+286T>C,\N,\N,\N,1/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.918,0.0014,1KG_AMR_AF,DSPP
624089,4:88530090:C>T,88530090,NM_014208.3,NM_014208.3:c.-29+318C>T,\N,\N,\N,1/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.402,0.001,1KG_SAS_AF,DSPP
624090,4:88530173:C>T,88530173,NM_014208.3,NM_014208.3:c.-29+401C>T,\N,\N,\N,1/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.706,\N,\N,DSPP
624091,4:88530176:A>G,88530176,NM_014208.3,NM_014208.3:c.-29+404A>G,\N,\N,\N,1/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.248,\N,\N,DSPP
624092,4:88530230:T>C,88530230,NM_014208.3,NM_014208.3:c.-29+458T>C,\N,\N,\N,1/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.667,\N,\N,DSPP
624093,4:88530240:T>A,88530240,NM_014208.3,NM_014208.3:c.-29+468T>A,\N,\N,\N,1/4,Benign,\N,intron_variant,MODIFIER,\N,\N,8.872,0.0113,1KG_AFR_AF,DSPP
624094,4:88530290:A>C,88530290,NM_014208.3,NM_014208.3:c.-29+518A>C,\N,\N,\N,1/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.773,0.0015,1KG_AFR_AF,DSPP
624095,4:88530317:A>G,88530317,NM_014208.3,NM_014208.3:c.-29+545A>G,\N,\N,\N,1/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.417,\N,\N,DSPP
624096,4:88530347:G>A,88530347,NM_014208.3,NM_014208.3:c.-29+575G>A,\N,\N,\N,1/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.814,0.0008,1KG_AFR_AF,DSPP
624097,4:88530386:T>TG,88530386,NM_014208.3,NM_014208.3:c.-29+616dup,\N,\N,\N,1/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,DSPP
624098,4:88530397:A>C,88530397,NM_014208.3,NM_014208.3:c.-29+625A>C,\N,\N,\N,1/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.468,0.003,1KG_AFR_AF,DSPP
624099,4:88530420:G>A,88530420,NM_014208.3,NM_014208.3:c.-29+648G>A,\N,\N,\N,1/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.561,\N,\N,DSPP
624100,4:88530461:C>T,88530461,NM_014208.3,NM_014208.3:c.-29+689C>T,\N,\N,\N,1/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.526,0.003,1KG_AFR_AF,DSPP
624101,4:88530462:G>T,88530462,NM_014208.3,NM_014208.3:c.-29+690G>T,\N,\N,\N,1/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.232,\N,\N,DSPP
624102,4:88530463:C>T,88530463,NM_014208.3,NM_014208.3:c.-29+691C>T,\N,\N,\N,1/4,Benign,\N,intron_variant,MODIFIER,\N,\N,4.397,0.6042,1KG_EAS_AF,DSPP
624103,4:88530473:G>A,88530473,NM_014208.3,NM_014208.3:c.-29+701G>A,\N,\N,\N,1/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.606,0.001,1KG_SAS_AF,DSPP
624104,4:88530483:C>A,88530483,NM_014208.3,NM_014208.3:c.-29+711C>A,\N,\N,\N,1/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.425,\N,\N,DSPP
624105,4:88530497:G>T,88530497,NM_014208.3,NM_014208.3:c.-29+725G>T,\N,\N,\N,1/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.9,\N,\N,DSPP
624106,4:88530530:C>T,88530530,NM_014208.3,NM_014208.3:c.-29+758C>T,\N,\N,\N,1/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.429,0.002,1KG_EUR_AF|1KG_SAS_AF,DSPP
624107,4:88530534:C>G,88530534,NM_014208.3,NM_014208.3:c.-29+762C>G,\N,\N,\N,1/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.363,0.001,1KG_EAS_AF,DSPP
624108,4:88530589:G>T,88530589,NM_014208.3,NM_014208.3:c.-29+817G>T,\N,\N,\N,1/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.688,\N,\N,DSPP
624109,4:88530653:G>T,88530653,NM_014208.3,NM_014208.3:c.-29+881G>T,\N,\N,\N,1/4,Benign,\N,intron_variant,MODIFIER,\N,\N,1.705,0.005,1KG_EAS_AF,DSPP
624110,4:88530666:C>T,88530666,NM_014208.3,NM_014208.3:c.-29+894C>T,\N,\N,\N,1/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.667,\N,\N,DSPP
624111,4:88530740:G>A,88530740,NM_014208.3,NM_014208.3:c.-29+968G>A,\N,\N,\N,1/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.574,0.0015,1KG_AFR_AF,DSPP
624112,4:88530749:T>TC,88530749,NM_014208.3,NM_014208.3:c.-29+982dup,\N,\N,\N,1/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,DSPP
624113,4:88530753:C>T,88530753,NM_014208.3,NM_014208.3:c.-29+981C>T,\N,\N,\N,1/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.808,\N,\N,DSPP
624114,4:88530782:T>G,88530782,NM_014208.3,NM_014208.3:c.-29+1010T>G,\N,\N,\N,1/4,Benign,\N,intron_variant,MODIFIER,\N,\N,2.676,0.0119,1KG_EUR_AF,DSPP
624115,4:88530813:C>T,88530813,NM_014208.3,NM_014208.3:c.-29+1041C>T,\N,\N,\N,1/4,Benign,\N,intron_variant,MODIFIER,\N,\N,6.887,0.0215,1KG_SAS_AF,DSPP
624116,4:88530818:G>A,88530818,NM_014208.3,NM_014208.3:c.-29+1046G>A,\N,\N,\N,1/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,11.08,\N,\N,DSPP
624117,4:88530910:G>T,88530910,NM_014208.3,NM_014208.3:c.-28-1123G>T,\N,\N,\N,1/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.876,0.0014,1KG_AMR_AF,DSPP
624118,4:88530955:A>G,88530955,NM_014208.3,NM_014208.3:c.-28-1078A>G,\N,\N,\N,1/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,10.08,\N,\N,DSPP
624119,4:88530961:A>G,88530961,NM_014208.3,NM_014208.3:c.-28-1072A>G,\N,\N,\N,1/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,13.1,0.001,1KG_SAS_AF,DSPP
624120,4:88530988:T>G,88530988,NM_014208.3,NM_014208.3:c.-28-1045T>G,\N,\N,\N,1/4,Benign,\N,intron_variant,MODIFIER,\N,\N,1.013,0.0499,1KG_AFR_AF,DSPP
624121,4:88530989:T>C,88530989,NM_014208.3,NM_014208.3:c.-28-1044T>C,\N,\N,\N,1/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.455,0.0008,1KG_AFR_AF,DSPP
624122,4:88531048:C>A,88531048,NM_014208.3,NM_014208.3:c.-28-985C>A,\N,\N,\N,1/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.899,\N,\N,DSPP
624123,4:88531072:A>AG,88531072,NM_014208.3,NM_014208.3:c.-28-958dup,\N,\N,\N,1/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,DSPP
624124,4:88531109:T>A,88531109,NM_014208.3,NM_014208.3:c.-28-924T>A,\N,\N,\N,1/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.484,\N,\N,DSPP
624125,4:88531163:T>C,88531163,NM_014208.3,NM_014208.3:c.-28-870T>C,\N,\N,\N,1/4,Benign,\N,intron_variant,MODIFIER,\N,\N,0.657,0.0119,1KG_EUR_AF,DSPP
624126,4:88531203:C>T,88531203,NM_014208.3,NM_014208.3:c.-28-830C>T,\N,\N,\N,1/4,Benign,\N,intron_variant,MODIFIER,\N,\N,1.687,0.0099,1KG_EAS_AF,DSPP
624127,4:88531204:G>T,88531204,NM_014208.3,NM_014208.3:c.-28-829G>T,\N,\N,\N,1/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.352,0.003,1KG_EUR_AF,DSPP
624128,4:88531239:C>T,88531239,NM_014208.3,NM_014208.3:c.-28-794C>T,\N,\N,\N,1/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,8.307,0.001,1KG_SAS_AF,DSPP
624129,4:88531292:T>C,88531292,NM_014208.3,NM_014208.3:c.-28-741T>C,\N,\N,\N,1/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.381,\N,\N,DSPP
624130,4:88531325:G>A,88531325,NM_014208.3,NM_014208.3:c.-28-708G>A,\N,\N,\N,1/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.865,0.001,1KG_EAS_AF,DSPP
624131,4:88531325:G>C,88531325,NM_014208.3,NM_014208.3:c.-28-708G>C,\N,\N,\N,1/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.043,\N,\N,DSPP
624132,4:88531338:C>T,88531338,NM_014208.3,NM_014208.3:c.-28-695C>T,\N,\N,\N,1/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.285,\N,\N,DSPP
624133,4:88531380:A>G,88531380,NM_014208.3,NM_014208.3:c.-28-653A>G,\N,\N,\N,1/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.52,0.001,1KG_SAS_AF,DSPP
624134,4:88531394:C>T,88531394,NM_014208.3,NM_014208.3:c.-28-639C>T,\N,\N,\N,1/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.488,0.0015,1KG_AFR_AF,DSPP
624135,4:88531395:G>A,88531395,NM_014208.3,NM_014208.3:c.-28-638G>A,\N,\N,\N,1/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.736,0.002,1KG_EAS_AF,DSPP
624136,4:88531402:A>AG,88531402,NM_014208.3,NM_014208.3:c.-28-628dup,\N,\N,\N,1/4,Benign,\N,intron_variant,MODIFIER,\N,\N,0.373,0.0303,1KG_AFR_AF,DSPP
624137,4:88531407:T>G,88531407,NM_014208.3,NM_014208.3:c.-28-626T>G,\N,\N,\N,1/4,Benign,\N,intron_variant,MODIFIER,\N,\N,5.764,0.6042,1KG_EAS_AF,DSPP
624138,4:88531468:C>G,88531468,NM_014208.3,NM_014208.3:c.-28-565C>G,\N,\N,\N,1/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.221,0.003,1KG_EUR_AF,DSPP
624139,4:88531490:T>G,88531490,NM_014208.3,NM_014208.3:c.-28-543T>G,\N,\N,\N,1/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.582,0.0031,1KG_SAS_AF,DSPP
624140,4:88531544:G>C,88531544,NM_014208.3,NM_014208.3:c.-28-489G>C,\N,\N,\N,1/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.079,0.0029,1KG_AMR_AF,DSPP
624141,4:88531550:T>G,88531550,NM_014208.3,NM_014208.3:c.-28-483T>G,\N,\N,\N,1/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.206,\N,\N,DSPP
624142,4:88531564:G>A,88531564,NM_014208.3,NM_014208.3:c.-28-469G>A,\N,\N,\N,1/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.59,0.0008,1KG_AFR_AF,DSPP
624143,4:88531565:T>A,88531565,NM_014208.3,NM_014208.3:c.-28-468T>A,\N,\N,\N,1/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.548,\N,\N,DSPP
624144,4:88531574:C>T,88531574,NM_014208.3,NM_014208.3:c.-28-459C>T,\N,\N,\N,1/4,Benign,\N,intron_variant,MODIFIER,\N,\N,2.754,0.0303,1KG_AFR_AF,DSPP
624145,4:88531580:C>T,88531580,NM_014208.3,NM_014208.3:c.-28-453C>T,\N,\N,\N,1/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.937,0.001,1KG_SAS_AF,DSPP
624146,4:88531593:A>G,88531593,NM_014208.3,NM_014208.3:c.-28-440A>G,\N,\N,\N,1/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.108,0.001,1KG_EAS_AF,DSPP
624147,4:88531594:T>C,88531594,NM_014208.3,NM_014208.3:c.-28-439T>C,\N,\N,\N,1/4,Benign,\N,intron_variant,MODIFIER,\N,\N,2.26,0.0182,1KG_AFR_AF,DSPP
624148,4:88531602:A>T,88531602,NM_014208.3,NM_014208.3:c.-28-431A>T,\N,\N,\N,1/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.615,\N,\N,DSPP
624149,4:88531629:C>T,88531629,NM_014208.3,NM_014208.3:c.-28-404C>T,\N,\N,\N,1/4,Benign,\N,intron_variant,MODIFIER,\N,\N,4.223,0.0499,1KG_AFR_AF,DSPP
624150,4:88531637:T>A,88531637,NM_014208.3,NM_014208.3:c.-28-396T>A,\N,\N,\N,1/4,Benign,\N,intron_variant,MODIFIER,\N,\N,9.314,0.0129,1KG_AFR_AF,DSPP
624151,4:88531650:T>G,88531650,NM_014208.3,NM_014208.3:c.-28-383T>G,\N,\N,\N,1/4,Benign,\N,intron_variant,MODIFIER,\N,\N,3.921,0.0053,1KG_AFR_AF,DSPP
624152,4:88531653:G>A,88531653,NM_014208.3,NM_014208.3:c.-28-380G>A,\N,\N,\N,1/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.413,\N,\N,DSPP
624153,4:88531776:C>T,88531776,NM_014208.3,NM_014208.3:c.-28-257C>T,\N,\N,\N,1/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.269,\N,\N,DSPP
624154,4:88531780:G>T,88531780,NM_014208.3,NM_014208.3:c.-28-253G>T,\N,\N,\N,1/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.136,\N,\N,DSPP
624155,4:88531782:C>T,88531782,NM_014208.3,NM_014208.3:c.-28-251C>T,\N,\N,\N,1/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.381,0.001,1KG_EUR_AF,DSPP
624156,4:88531797:T>C,88531797,NM_014208.3,NM_014208.3:c.-28-236T>C,\N,\N,\N,1/4,Benign,\N,intron_variant,MODIFIER,\N,\N,5.039,0.0567,1KG_AFR_AF,DSPP
624157,4:88531800:C>T,88531800,NM_014208.3,NM_014208.3:c.-28-233C>T,\N,\N,\N,1/4,Benign,\N,intron_variant,MODIFIER,\N,\N,3.187,0.6042,1KG_EAS_AF,DSPP
624158,4:88531806:C>T,88531806,NM_014208.3,NM_014208.3:c.-28-227C>T,\N,\N,\N,1/4,Benign,\N,intron_variant,MODIFIER,\N,\N,5.68,0.0567,1KG_AFR_AF,DSPP
624159,4:88531818:C>G,88531818,NM_014208.3,NM_014208.3:c.-28-215C>G,\N,\N,\N,1/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,11.26,0.0008,1KG_AFR_AF,DSPP
624160,4:88531841:C>A,88531841,NM_014208.3,NM_014208.3:c.-28-192C>A,\N,\N,\N,1/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,15.23,0.001,1KG_SAS_AF,DSPP
624161,4:88531861:G>T,88531861,NM_014208.3,NM_014208.3:c.-28-172G>T,\N,\N,\N,1/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.72,\N,\N,DSPP
624162,4:88531867:C>T,88531867,NM_014208.3,NM_014208.3:c.-28-166C>T,\N,\N,\N,1/4,Benign,\N,intron_variant,MODIFIER,\N,\N,0.923,0.6042,1KG_EAS_AF,DSPP
624163,4:88531901:C>T,88531901,NM_014208.3,NM_014208.3:c.-28-132C>T,\N,\N,\N,1/4,Benign,\N,intron_variant,MODIFIER,\N,\N,3.443,0.0182,1KG_AFR_AF,DSPP
624164,4:88531913:C>T,88531913,NM_014208.3,NM_014208.3:c.-28-120C>T,\N,\N,\N,1/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.387,0.001,1KG_SAS_AF,DSPP
624165,4:88531914:G>A,88531914,NM_014208.3,NM_014208.3:c.-28-119G>A,\N,\N,\N,1/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.834,\N,\N,DSPP
624166,4:88531916:G>A,88531916,NM_014208.3,NM_014208.3:c.-28-117G>A,\N,\N,\N,1/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.02,\N,\N,DSPP
624167,4:88531928:C>A,88531928,NM_014208.3,NM_014208.3:c.-28-105C>A,\N,\N,\N,1/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.842,0.001,1KG_EUR_AF,DSPP
624168,4:88531989:C>T,88531989,NM_014208.3,NM_014208.3:c.-28-44C>T,\N,\N,\N,1/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,12.05,0.0008,1KG_AFR_AF,DSPP
624169,4:88532011:G>A,88532011,NM_014208.3,NM_014208.3:c.-28-22G>A,\N,\N,\N,1/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,16.86,0.000015211,EXAC_NFE_AF,DSPP
624170,4:88532014:C>T,88532014,NM_014208.3,NM_014208.3:c.-28-19C>T,\N,\N,\N,1/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,17.52,0.000182726,EXAC_SAS_AF,DSPP
624171,4:88532020:CT>C,88532020,NM_014208.3,NM_014208.3:c.-28-7del,\N,\N,\N,1/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,17.06,0.0000608939,EXAC_SAS_AF,DSPP
624172,4:88532028:T>C,88532028,NM_014208.3,NM_014208.3:c.-28-5T>C,\N,\N,\N,1/4,Unknown significance,\N,splice_region_variant&intron_variant,LOW,\N,\N,8.141,0.000102902,EXAC_AFR_AF,DSPP
624173,4:88532036:T>TTGATTA,88532036,NM_014208.3,NM_014208.3:c.-23_-18dup,\N,\N,2/5,\N,Unknown significance,\N,5_prime_UTR_variant,MODIFIER,\N,\N,15.77,\N,\N,DSPP
624174,4:88532038:G>A,88532038,NM_014208.3,NM_014208.3:c.-23G>A,\N,\N,2/5,\N,Unknown significance,\N,5_prime_UTR_variant,MODIFIER,\N,\N,17.57,\N,\N,DSPP
624175,4:88532046:T>A,88532046,NM_014208.3,NM_014208.3:c.-15T>A,\N,\N,2/5,\N,Unknown significance,\N,5_prime_UTR_variant,MODIFIER,\N,\N,18.3,0.00288316,EXAC_FIN_AF,DSPP
624176,4:88532046:T>C,88532046,NM_014208.3,NM_014208.3:c.-15T>C,\N,\N,2/5,\N,Unknown significance,\N,5_prime_UTR_variant,MODIFIER,\N,\N,16.73,0.000086881,EXAC_AMR_AF,DSPP
624177,4:88532050:T>G,88532050,NM_014208.3,NM_014208.3:c.-11T>G,\N,\N,2/5,\N,Unknown significance,\N,5_prime_UTR_variant,MODIFIER,\N,\N,18.69,0.0000150621,EXAC_NFE_AF,DSPP
624178,4:88532053:T>C,88532053,NM_014208.3,NM_014208.3:c.-8T>C,\N,\N,2/5,\N,Unknown significance,\N,5_prime_UTR_variant,MODIFIER,\N,\N,18.66,0.000102333,EXAC_AFR_AF,DSPP
624179,4:88532076:T>G,88532076,NM_014208.3,NM_014208.3:c.16T>G,NP_055023.2:p.Tyr6Asp,6,2/5,\N,Pathogenic,Dentin dysplasia type II,missense_variant,MODERATE,\N,\N,24,\N,\N,DSPP
624180,4:88532079:T>A,88532079,NM_014208.3,NM_014208.3:c.19T>A,NP_055023.2:p.Phe7Ile,7,2/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,23.3,0.0000605987,EXAC_SAS_AF,DSPP
624181,4:88532092:C>A,88532092,NM_014208.3,NM_014208.3:c.32C>A,NP_055023.2:p.Ala11Glu,11,2/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,23.9,0.000302957,EXAC_SAS_AF,DSPP
624182,4:88532095:T>C,88532095,NM_014208.3,NM_014208.3:c.35T>C,NP_055023.2:p.Val12Ala,12,2/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,9.722,0.000102062,EXAC_AFR_AF,DSPP
624183,4:88532104:C>T,88532104,NM_014208.3,NM_014208.3:c.44C>T,NP_055023.2:p.Ala15Val,15,2/5,\N,Pathogenic,Dentinogenesis imperfecta type II,missense_variant,MODERATE,\N,\N,25.7,\N,\N,DSPP
624184,4:88532109:C>A,88532109,NM_014208.3,NM_014208.3:c.49C>A,NP_055023.2:p.Pro17Thr,17,2/5,\N,Pathogenic,Dentinogenesis imperfecta type I,missense_variant&splice_region_variant,MODERATE,\N,\N,23.9,\N,\N,DSPP
624185,4:88532109:C>T,88532109,NM_014208.3,NM_014208.3:c.49C>T,NP_055023.2:p.Pro17Ser,17,2/5,\N,Pathogenic,Dentinogenesis imperfecta type II,missense_variant&splice_region_variant,MODERATE,\N,\N,24.3,\N,\N,DSPP
624186,4:88532110:C>T,88532110,NM_014208.3,NM_014208.3:c.50C>T,NP_055023.2:p.Pro17Leu,17,2/5,\N,Pathogenic,Dentinogenesis imperfecta type II,missense_variant&splice_region_variant,MODERATE,\N,\N,24.9,\N,\N,DSPP
624187,4:88532115:A>C,88532115,NM_014208.3,NM_014208.3:c.51+4A>C,\N,\N,\N,2/4,Unknown significance,\N,splice_region_variant&intron_variant,LOW,\N,\N,14.07,0.000115955,EXAC_EAS_AF,DSPP
624188,4:88532116:G>A,88532116,NM_014208.3,NM_014208.3:c.51+5G>A,\N,\N,\N,2/4,Unknown significance,\N,splice_region_variant&intron_variant,LOW,\N,\N,17.31,0.000231911,EXAC_EAS_AF,DSPP
624189,4:88532117:T>C,88532117,NM_014208.3,NM_014208.3:c.51+6T>C,\N,\N,\N,2/4,Unknown significance,\N,splice_region_variant&intron_variant,LOW,\N,\N,14.29,0.000172891,EXAC_AMR_AF,DSPP
624190,4:88532118:A>G,88532118,NM_014208.3,NM_014208.3:c.51+7A>G,\N,\N,\N,2/4,Unknown significance,\N,splice_region_variant&intron_variant,LOW,\N,\N,14.45,0.0000149948,EXAC_NFE_AF,DSPP
624191,4:88532120:G>A,88532120,NM_014208.3,NM_014208.3:c.51+9G>A,\N,\N,\N,2/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,8.04,0.0000605914,EXAC_SAS_AF,DSPP
624192,4:88532132:A>G,88532132,NM_014208.3,NM_014208.3:c.51+21A>G,\N,\N,\N,2/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.646,0.000115955,EXAC_EAS_AF,DSPP
624193,4:88532135:C>T,88532135,NM_014208.3,NM_014208.3:c.51+24C>T,\N,\N,\N,2/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.638,0.000151378,EXAC_FIN_AF,DSPP
624194,4:88532141:C>T,88532141,NM_014208.3,NM_014208.3:c.51+30C>T,\N,\N,\N,2/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.844,0.000692042,EXAC_AMR_AF,DSPP
624195,4:88532143:C>G,88532143,NM_014208.3,NM_014208.3:c.51+32C>G,\N,\N,\N,2/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.67,0.0000865202,EXAC_AMR_AF,DSPP
624196,4:88532158:T>A,88532158,NM_014208.3,NM_014208.3:c.51+47T>A,\N,\N,\N,2/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.398,0.000060687,EXAC_SAS_AF,DSPP
624197,4:88532161:C>A,88532161,NM_014208.3,NM_014208.3:c.51+50C>A,\N,\N,\N,2/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.057,0.000854492,EVS_EA_AF,DSPP
624198,4:88532162:C>T,88532162,NM_014208.3,NM_014208.3:c.51+51C>T,\N,\N,\N,2/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.012,0.000116144,EXAC_EAS_AF,DSPP
624199,4:88532179:T>G,88532179,NM_014208.3,NM_014208.3:c.51+68T>G,\N,\N,\N,2/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.627,0,1KG_ALL_AF|1KG_AFR_AF|1KG_AMR_AF|1KG_EAS_AF|1KG_EUR_AF|1KG_SAS_AF,DSPP
624200,4:88532181:TAGTGTGTG>T,88532181,NM_014208.3,NM_014208.3:c.51+71_51+78del,\N,\N,\N,2/4,Benign,\N,intron_variant,MODIFIER,\N,\N,1.848,0.0189,1KG_AFR_AF,DSPP
624201,4:88532182:A>AGT,88532182,NM_014208.3,NM_014208.3:c.51+103_51+104dup,\N,\N,\N,2/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.036,\N,\N,DSPP
624202,4:88532182:A>AGTGT,88532182,NM_014208.3,NM_014208.3:c.51+101_51+104dup,\N,\N,\N,2/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.031,\N,\N,DSPP
624203,4:88532182:A>AGTGTGTGTGT,88532182,NM_014208.3,NM_014208.3:c.51+95_51+104dup,\N,\N,\N,2/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.019,\N,\N,DSPP
624204,4:88532182:AG>A,88532182,NM_014208.3,NM_014208.3:c.51+72del,\N,\N,\N,2/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,DSPP
624205,4:88532182:AGT>A,88532182,NM_014208.3,NM_014208.3:c.51+103_51+104del,\N,\N,\N,2/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.09,\N,\N,DSPP
624206,4:88532182:AGTGT>A,88532182,NM_014208.3,NM_014208.3:c.51+101_51+104del,\N,\N,\N,2/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.903,\N,\N,DSPP
624207,4:88532183:GT>G,88532183,NM_014208.3,NM_014208.3:c.51+73del,\N,\N,\N,2/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,DSPP
624208,4:88532185:G>C,88532185,NM_014208.3,NM_014208.3:c.51+74G>C,\N,\N,\N,2/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.036,\N,\N,DSPP
624209,4:88532203:G>A,88532203,NM_014208.3,NM_014208.3:c.51+92G>A,\N,\N,\N,2/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.03,\N,\N,DSPP
624210,4:88532212:T>TGTGG,88532212,NM_014208.3,NM_014208.3:c.51+104_51+105insGGTG,\N,\N,\N,2/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,DSPP
624211,4:88532212:TGTGC>T,88532212,NM_014208.3,NM_014208.3:c.51+102_51+105del,\N,\N,\N,2/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,DSPP
624212,4:88532214:T>C,88532214,NM_014208.3,NM_014208.3:c.51+103T>C,\N,\N,\N,2/4,Benign,\N,intron_variant,MODIFIER,\N,\N,0.565,0.0076,1KG_AFR_AF,DSPP
624213,4:88532215:G>GTGTA,88532215,NM_014208.3,NM_014208.3:c.51+104_51+105insTGTA,\N,\N,\N,2/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,DSPP
624214,4:88532215:GCATGTACA>G,88532215,NM_014208.3,NM_014208.3:c.51+105_51+112del,\N,\N,\N,2/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,DSPP
624215,4:88532218:T>C,88532218,NM_014208.3,NM_014208.3:c.51+107T>C,\N,\N,\N,2/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.339,0.0023,1KG_AFR_AF,DSPP
624216,4:88532222:CAT>C,88532222,NM_014208.3,NM_014208.3:c.51+112_51+113del,\N,\N,\N,2/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,DSPP
624217,4:88532235:A>G,88532235,NM_014208.3,NM_014208.3:c.51+124A>G,\N,\N,\N,2/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.368,\N,\N,DSPP
624218,4:88532235:ATG>A,88532235,NM_014208.3,NM_014208.3:c.51+134_51+135del,\N,\N,\N,2/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,\N,\N,\N,DSPP
624219,4:88532239:G>A,88532239,NM_014208.3,NM_014208.3:c.51+128G>A,\N,\N,\N,2/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.509,0.0008,1KG_AFR_AF,DSPP
624220,4:88532252:T>C,88532252,NM_014208.3,NM_014208.3:c.51+141T>C,\N,\N,\N,2/4,Benign,\N,intron_variant,MODIFIER,\N,\N,0.1,0.0295,1KG_AFR_AF,DSPP
624221,4:88532329:G>A,88532329,NM_014208.3,NM_014208.3:c.51+218G>A,\N,\N,\N,2/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.246,0.001,1KG_SAS_AF,DSPP
624222,4:88532349:A>G,88532349,NM_014208.3,NM_014208.3:c.51+238A>G,\N,\N,\N,2/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.193,0.0008,1KG_AFR_AF,DSPP
624223,4:88532356:G>A,88532356,NM_014208.3,NM_014208.3:c.51+245G>A,\N,\N,\N,2/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.391,\N,\N,DSPP
624224,4:88532370:T>C,88532370,NM_014208.3,NM_014208.3:c.51+259T>C,\N,\N,\N,2/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.221,\N,\N,DSPP
624225,4:88532454:G>A,88532454,NM_014208.3,NM_014208.3:c.51+343G>A,\N,\N,\N,2/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,15.85,\N,\N,DSPP
624226,4:88532460:T>C,88532460,NM_014208.3,NM_014208.3:c.51+349T>C,\N,\N,\N,2/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,15.7,0.0015,1KG_AFR_AF,DSPP
624227,4:88532465:C>T,88532465,NM_014208.3,NM_014208.3:c.51+354C>T,\N,\N,\N,2/4,Benign,\N,intron_variant,MODIFIER,\N,\N,14.13,0.0194,1KG_SAS_AF,DSPP
624228,4:88532493:A>C,88532493,NM_014208.3,NM_014208.3:c.51+382A>C,\N,\N,\N,2/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.391,\N,\N,DSPP
624229,4:88532494:T>G,88532494,NM_014208.3,NM_014208.3:c.51+383T>G,\N,\N,\N,2/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.527,\N,\N,DSPP
624230,4:88532502:C>T,88532502,NM_014208.3,NM_014208.3:c.51+391C>T,\N,\N,\N,2/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.222,0.003,1KG_EAS_AF,DSPP
624231,4:88532514:G>C,88532514,NM_014208.3,NM_014208.3:c.51+403G>C,\N,\N,\N,2/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.317,\N,\N,DSPP
624232,4:88532563:T>C,88532563,NM_014208.3,NM_014208.3:c.51+452T>C,\N,\N,\N,2/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.964,\N,\N,DSPP
624233,4:88532626:A>C,88532626,NM_014208.3,NM_014208.3:c.51+515A>C,\N,\N,\N,2/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.755,0.0014,1KG_AMR_AF,DSPP
624234,4:88532629:T>A,88532629,NM_014208.3,NM_014208.3:c.51+518T>A,\N,\N,\N,2/4,Benign,\N,intron_variant,MODIFIER,\N,\N,9.11,0.0053,1KG_AFR_AF,DSPP
624235,4:88532642:T>C,88532642,NM_014208.3,NM_014208.3:c.51+531T>C,\N,\N,\N,2/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.173,\N,\N,DSPP
624236,4:88532655:A>C,88532655,NM_014208.3,NM_014208.3:c.51+544A>C,\N,\N,\N,2/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.2,\N,\N,DSPP
624237,4:88532686:T>G,88532686,NM_014208.3,NM_014208.3:c.52-571T>G,\N,\N,\N,2/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.199,0.002,1KG_EAS_AF|1KG_SAS_AF,DSPP
624238,4:88532763:G>A,88532763,NM_014208.3,NM_014208.3:c.52-494G>A,\N,\N,\N,2/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.675,\N,\N,DSPP
624239,4:88532785:C>T,88532785,NM_014208.3,NM_014208.3:c.52-472C>T,\N,\N,\N,2/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.756,0.002,1KG_SAS_AF,DSPP
624240,4:88532795:G>A,88532795,NM_014208.3,NM_014208.3:c.52-462G>A,\N,\N,\N,2/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.513,0.001,1KG_SAS_AF,DSPP
624241,4:88532813:G>A,88532813,NM_014208.3,NM_014208.3:c.52-444G>A,\N,\N,\N,2/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.112,0.004,1KG_EAS_AF,DSPP
624242,4:88532815:A>C,88532815,NM_014208.3,NM_014208.3:c.52-442A>C,\N,\N,\N,2/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.774,\N,\N,DSPP
624243,4:88532830:C>T,88532830,NM_014208.3,NM_014208.3:c.52-427C>T,\N,\N,\N,2/4,Benign,\N,intron_variant,MODIFIER,\N,\N,3.942,0.7034,1KG_EAS_AF,DSPP
624244,4:88532850:C>T,88532850,NM_014208.3,NM_014208.3:c.52-407C>T,\N,\N,\N,2/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.502,\N,\N,DSPP
624245,4:88532874:T>C,88532874,NM_014208.3,NM_014208.3:c.52-383T>C,\N,\N,\N,2/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.73,0.001,1KG_EUR_AF,DSPP
624246,4:88532895:C>T,88532895,NM_014208.3,NM_014208.3:c.52-362C>T,\N,\N,\N,2/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.592,\N,\N,DSPP
624247,4:88532896:G>A,88532896,NM_014208.3,NM_014208.3:c.52-361G>A,\N,\N,\N,2/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.935,\N,\N,DSPP
624248,4:88532896:G>C,88532896,NM_014208.3,NM_014208.3:c.52-361G>C,\N,\N,\N,2/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.149,0.002,1KG_EAS_AF,DSPP
624249,4:88532952:C>T,88532952,NM_014208.3,NM_014208.3:c.52-305C>T,\N,\N,\N,2/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.313,0.001,1KG_SAS_AF,DSPP
624250,4:88533008:C>T,88533008,NM_014208.3,NM_014208.3:c.52-249C>T,\N,\N,\N,2/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.593,\N,\N,DSPP
624251,4:88533033:G>A,88533033,NM_014208.3,NM_014208.3:c.52-224G>A,\N,\N,\N,2/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.512,0.001,1KG_EUR_AF,DSPP
624252,4:88533046:A>G,88533046,NM_014208.3,NM_014208.3:c.52-211A>G,\N,\N,\N,2/4,Benign,\N,intron_variant,MODIFIER,\N,\N,2.102,0.0083,1KG_AFR_AF,DSPP
624253,4:88533052:C>T,88533052,NM_014208.3,NM_014208.3:c.52-205C>T,\N,\N,\N,2/4,Benign,\N,intron_variant,MODIFIER,\N,\N,4.175,0.025,1KG_AFR_AF,DSPP
624254,4:88533072:G>A,88533072,NM_014208.3,NM_014208.3:c.52-185G>A,\N,\N,\N,2/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.872,\N,\N,DSPP
624255,4:88533099:T>C,88533099,NM_014208.3,NM_014208.3:c.52-158T>C,\N,\N,\N,2/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,9.891,0.0014,1KG_AMR_AF,DSPP
624256,4:88533163:T>TTG,88533163,NM_014208.3,NM_014208.3:c.52-65_52-64dup,\N,\N,\N,2/4,Benign,\N,intron_variant,MODIFIER,\N,\N,0.73,0.0666,1KG_AFR_AF,DSPP
624257,4:88533163:TTG>T,88533163,NM_014208.3,NM_014208.3:c.52-65_52-64del,\N,\N,\N,2/4,Benign,\N,intron_variant,MODIFIER,\N,\N,1.627,0.2723,1KG_AFR_AF,DSPP
624258,4:88533163:TTGTG>T,88533163,NM_014208.3,NM_014208.3:c.52-67_52-64del,\N,\N,\N,2/4,Benign,\N,intron_variant,MODIFIER,\N,\N,2.071,0.1104,1KG_AFR_AF,DSPP
624259,4:88533163:TTGTGTG>T,88533163,NM_014208.3,NM_014208.3:c.52-69_52-64del,\N,\N,\N,2/4,Benign,\N,intron_variant,MODIFIER,\N,\N,2.344,0.3899,1KG_EAS_AF,DSPP
624260,4:88533163:TTGTGTGTG>T,88533163,NM_014208.3,NM_014208.3:c.52-71_52-64del,\N,\N,\N,2/4,Benign,\N,intron_variant,MODIFIER,\N,\N,2.483,0.5457,1KG_EUR_AF,DSPP
624261,4:88533163:TTGTGTGTGTG>T,88533163,NM_014208.3,NM_014208.3:c.52-73_52-64del,\N,\N,\N,2/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.405,0.0043,1KG_AMR_AF,DSPP
624262,4:88533186:T>C,88533186,NM_014208.3,NM_014208.3:c.52-71T>C,\N,\N,\N,2/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.191,\N,\N,DSPP
624263,4:88533196:C>T,88533196,NM_014208.3,NM_014208.3:c.52-61C>T,\N,\N,\N,2/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.76,0.0038,1KG_AFR_AF,DSPP
624264,4:88533216:A>C,88533216,NM_014208.3,NM_014208.3:c.52-41A>C,\N,\N,\N,2/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.82,0.00469589,EXAC_AFR_AF,DSPP
624265,4:88533218:T>A,88533218,NM_014208.3,NM_014208.3:c.52-39T>A,\N,\N,\N,2/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.271,0.0000165404,EXAC_NFE_AF,DSPP
624266,4:88533224:C>A,88533224,NM_014208.3,NM_014208.3:c.52-33C>A,\N,\N,\N,2/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.247,0.0000663218,EXAC_SAS_AF,DSPP
624267,4:88533236:C>T,88533236,NM_014208.3,NM_014208.3:c.52-21C>T,\N,\N,\N,2/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.159,0.0001221,EXAC_EAS_AF,DSPP
624268,4:88533237:C>T,88533237,NM_014208.3,NM_014208.3:c.52-20C>T,\N,\N,\N,2/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.04,0.000111323,EXAC_NFE_AF,DSPP
624269,4:88533244:T>C,88533244,NM_014208.3,NM_014208.3:c.52-13T>C,\N,\N,\N,2/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.392,0.00012734,EXAC_SAS_AF,DSPP
624270,4:88533246:C>T,88533246,NM_014208.3,NM_014208.3:c.52-11C>T,\N,\N,\N,2/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.133,0.0000155671,EXAC_NFE_AF,DSPP
624271,4:88533249:C>T,88533249,NM_014208.3,NM_014208.3:c.52-8C>T,\N,\N,\N,2/4,Unknown significance,\N,splice_region_variant&intron_variant,LOW,\N,\N,5.328,0.001,1KG_EAS_AF,DSPP
624272,4:88533251:T>G,88533251,NM_014208.3,NM_014208.3:c.52-6T>G,\N,\N,\N,2/4,Pathogenic,Dentin dysplasia type II,splice_region_variant&intron_variant,LOW,\N,\N,4.548,\N,\N,DSPP
624273,4:88533254:C>A,88533254,NM_014208.3,NM_014208.3:c.52-3C>A,\N,\N,\N,2/4,Pathogenic,Dentinogenesis imperfecta type II,splice_region_variant&intron_variant,LOW,\N,\N,8.93,\N,\N,DSPP
624274,4:88533254:C>G,88533254,NM_014208.3,NM_014208.3:c.52-3C>G,\N,\N,\N,2/4,Pathogenic,Dentinogenesis imperfecta type II,splice_region_variant&intron_variant,LOW,\N,\N,6.669,\N,\N,DSPP
624275,4:88533257:G>T,88533257,NM_014208.3,NM_014208.3:c.52G>T,NP_055023.2:p.Val18Phe,18,3/5,\N,Pathogenic,Dentinogenesis imperfecta type I,missense_variant&splice_region_variant,MODERATE,\N,\N,21.1,\N,\N,DSPP
624276,4:88533258:T>A,88533258,NM_014208.3,NM_014208.3:c.53T>A,NP_055023.2:p.Val18Asp,18,3/5,\N,Pathogenic,Dentinogenesis imperfecta type II,missense_variant&splice_region_variant,MODERATE,\N,\N,23.3,\N,\N,DSPP
624277,4:88533268:C>A,88533268,NM_014208.3,NM_014208.3:c.63C>A,NP_055023.2:p.Ser21Arg,21,3/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,18.33,0.000174307,EXAC_AMR_AF,DSPP
624278,4:88533280:G>A,88533280,NM_014208.3,NM_014208.3:c.75G>A,NP_055023.2:p.Glu25=,25,3/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,5.385,0.0000151057,EXAC_NFE_AF,DSPP
624279,4:88533285:A>G,88533285,NM_014208.3,NM_014208.3:c.80A>G,NP_055023.2:p.His27Arg,27,3/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,15.21,0.000269397,EVS_AA_AF,DSPP
624280,4:88533289:C>T,88533289,NM_014208.3,NM_014208.3:c.84C>T,NP_055023.2:p.Val28=,28,3/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,12.17,0.000244439,EVS_EA_AF,DSPP
624281,4:88533290:G>A,88533290,NM_014208.3,NM_014208.3:c.85G>A,NP_055023.2:p.Glu29Lys,29,3/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,20.6,0.0015,1KG_AFR_AF,DSPP
624282,4:88533296:T>C,88533296,NM_014208.3,NM_014208.3:c.91T>C,NP_055023.2:p.Ser31Pro,31,3/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,15.91,0.000366748,EVS_EA_AF,DSPP
624283,4:88533318:C>A,88533318,NM_014208.3,NM_014208.3:c.113C>A,NP_055023.2:p.Ala38Glu,38,3/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,15.5,\N,\N,DSPP
624284,4:88533338:C>T,88533338,NM_014208.3,NM_014208.3:c.133C>T,NP_055023.2:p.Gln45Ter,45,3/5,\N,Pathogenic,Dentinogenesis imperfecta Shields type II,stop_gained&splice_region_variant,HIGH,\N,\N,36,\N,\N,DSPP
624285,4:88533341:G>A,88533341,NM_014208.3,NM_014208.3:c.135+1G>A,\N,\N,\N,3/4,Pathogenic,Dentinogenesis imperfecta type I,splice_donor_variant,HIGH,\N,\N,23,\N,\N,DSPP
624286,4:88533341:G>T,88533341,NM_014208.3,NM_014208.3:c.135+1G>T,\N,\N,\N,3/4,Pathogenic,Dentinogenesis imperfecta type II,splice_donor_variant,HIGH,\N,\N,22.3,\N,\N,DSPP
624287,4:88533342:T>C,88533342,NM_014208.3,NM_014208.3:c.135+2T>C,\N,\N,\N,3/4,Pathogenic,Dentinogenesis imperfecta type II,splice_donor_variant,HIGH,\N,\N,21.5,\N,\N,DSPP
624288,4:88533343:A>G,88533343,NM_014208.3,NM_014208.3:c.135+3A>G,\N,\N,\N,3/4,Pathogenic,Dentinogenesis imperfecta type II,splice_region_variant&intron_variant,LOW,\N,\N,8.735,\N,\N,DSPP
624289,4:88533350:G>A,88533350,NM_014208.3,NM_014208.3:c.135+10G>A,\N,\N,\N,3/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.135,0.0000876885,EXAC_AMR_AF,DSPP
624290,4:88533366:T>C,88533366,NM_014208.3,NM_014208.3:c.135+26T>C,\N,\N,\N,3/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.714,0.000188017,EXAC_SAS_AF,DSPP
624291,4:88533374:A>G,88533374,NM_014208.3,NM_014208.3:c.135+34A>G,\N,\N,\N,3/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.418,0.00118576,EXAC_NFE_AF,DSPP
624292,4:88533375:T>C,88533375,NM_014208.3,NM_014208.3:c.135+35T>C,\N,\N,\N,3/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.513,0.0000156177,EXAC_NFE_AF,DSPP
624293,4:88533390:A>G,88533390,NM_014208.3,NM_014208.3:c.135+50A>G,\N,\N,\N,3/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.027,0.000271592,EVS_AA_AF,DSPP
624294,4:88533423:T>C,88533423,NM_014208.3,NM_014208.3:c.136-51T>C,\N,\N,\N,3/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.808,0.0000619886,EXAC_SAS_AF,DSPP
624295,4:88533426:C>T,88533426,NM_014208.3,NM_014208.3:c.136-48C>T,\N,\N,\N,3/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.698,0.000434513,EXAC_SAS_AF,DSPP
624296,4:88533440:A>C,88533440,NM_014208.3,NM_014208.3:c.136-34A>C,\N,\N,\N,3/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.852,0.0000154055,EXAC_NFE_AF,DSPP
624297,4:88533440:A>G,88533440,NM_014208.3,NM_014208.3:c.136-34A>G,\N,\N,\N,3/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.769,0.000185943,EXAC_SAS_AF,DSPP
624298,4:88533441:T>C,88533441,NM_014208.3,NM_014208.3:c.136-33T>C,\N,\N,\N,3/4,Benign,\N,intron_variant,MODIFIER,\N,\N,2.848,0.7054,1KG_EAS_AF,DSPP
624299,4:88533445:T>C,88533445,NM_014208.3,NM_014208.3:c.136-29T>C,\N,\N,\N,3/4,Benign,\N,intron_variant,MODIFIER,\N,\N,2.526,0.3272,1KG_SAS_AF,DSPP
624300,4:88533447:T>C,88533447,NM_014208.3,NM_014208.3:c.136-27T>C,\N,\N,\N,3/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.865,0.0031,1KG_SAS_AF,DSPP
624301,4:88533452:G>A,88533452,NM_014208.3,NM_014208.3:c.136-22G>A,\N,\N,\N,3/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.339,\N,\N,DSPP
624302,4:88533454:T>C,88533454,NM_014208.3,NM_014208.3:c.136-20T>C,\N,\N,\N,3/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.267,\N,\N,DSPP
624303,4:88533454:T>TTGAA,88533454,NM_014208.3,NM_014208.3:c.136-18_136-15dup,\N,\N,\N,3/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.113,0.0031,1KG_SAS_AF,DSPP
624304,4:88533455:T>G,88533455,NM_014208.3,NM_014208.3:c.136-19T>G,\N,\N,\N,3/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.644,0.0000152216,EXAC_NFE_AF,DSPP
624305,4:88533460:T>G,88533460,NM_014208.3,NM_014208.3:c.136-14T>G,\N,\N,\N,3/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.499,\N,\N,DSPP
624306,4:88533461:G>T,88533461,NM_014208.3,NM_014208.3:c.136-13G>T,\N,\N,\N,3/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.236,\N,\N,DSPP
624307,4:88533482:A>G,88533482,NM_014208.3,NM_014208.3:c.144A>G,NP_055023.2:p.Leu48=,48,4/5,\N,Benign,\N,synonymous_variant,LOW,\N,\N,0.519,0.0143,1KG_SAS_AF,DSPP
624308,4:88533486:G>C,88533486,NM_014208.3,NM_014208.3:c.148G>C,NP_055023.2:p.Ala50Pro,50,4/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,15.66,0.00112636,EXAC_AFR_AF,DSPP
624309,4:88533491:T>C,88533491,NM_014208.3,NM_014208.3:c.153T>C,NP_055023.2:p.Ser51=,51,4/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,0.217,0.0000611471,EXAC_SAS_AF,DSPP
624310,4:88533492:G>A,88533492,NM_014208.3,NM_014208.3:c.154G>A,NP_055023.2:p.Gly52Arg,52,4/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,15.57,0.0000611396,EXAC_SAS_AF,DSPP
624311,4:88533494:A>T,88533494,NM_014208.3,NM_014208.3:c.156A>T,NP_055023.2:p.Gly52=,52,4/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,0.011,0.0000611247,EXAC_SAS_AF,DSPP
624312,4:88533509:T>C,88533509,NM_014208.3,NM_014208.3:c.171T>C,NP_055023.2:p.Ser57=,57,4/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,0.822,0.0000610054,EXAC_SAS_AF,DSPP
624313,4:88533516:C>A,88533516,NM_014208.3,NM_014208.3:c.178C>A,NP_055023.2:p.Leu60Met,60,4/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,12.97,0.000365854,EXAC_SAS_AF,DSPP
624314,4:88533518:G>T,88533518,NM_014208.3,NM_014208.3:c.180G>T,NP_055023.2:p.Leu60=,60,4/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,0.379,0.00108434,EVS_EA_AF,DSPP
624315,4:88533520:T>G,88533520,NM_014208.3,NM_014208.3:c.182T>G,NP_055023.2:p.Val61Gly,61,4/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,11.1,0.0000150575,EXAC_NFE_AF,DSPP
624316,4:88533524:T>C,88533524,NM_014208.3,NM_014208.3:c.186T>C,NP_055023.2:p.His62=,62,4/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,0.019,0.0000301087,EXAC_NFE_AF,DSPP
624317,4:88533529:G>A,88533529,NM_014208.3,NM_014208.3:c.191G>A,NP_055023.2:p.Gly64Asp,64,4/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,5.956,0.0000609533,EXAC_SAS_AF,DSPP
624318,4:88533535:G>A,88533535,NM_014208.3,NM_014208.3:c.197G>A,NP_055023.2:p.Arg66Lys,66,4/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,0.003,0.0000150543,EXAC_NFE_AF,DSPP
624319,4:88533540:A>T,88533540,NM_014208.3,NM_014208.3:c.202A>T,NP_055023.2:p.Arg68Trp,68,4/5,\N,Benign*,\N,missense_variant,MODERATE,\N,\N,18.85,0.3812,1KG_AFR_AF,DSPP
624320,4:88533549:A>T,88533549,NM_014208.3,NM_014208.3:c.211A>T,NP_055023.2:p.Asn71Tyr,71,4/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,0.002,0.000120482,EVS_EA_AF,DSPP
624321,4:88533552:A>G,88533552,NM_014208.3,NM_014208.3:c.214A>G,NP_055023.2:p.Thr72Ala,72,4/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,0.285,0.000116414,EXAC_EAS_AF,DSPP
624322,4:88533553:C>T,88533553,NM_014208.3,NM_014208.3:c.215C>T,NP_055023.2:p.Thr72Ile,72,4/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,1.213,0.000151332,EXAC_FIN_AF,DSPP
624323,4:88533573:G>C,88533573,NM_014208.3,NM_014208.3:c.235G>C,NP_055023.2:p.Glu79Gln,79,4/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,14.45,0.000365943,EXAC_SAS_AF,DSPP
624324,4:88533578:G>A,88533578,NM_014208.3,NM_014208.3:c.240G>A,NP_055023.2:p.Gly80=,80,4/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,3.972,0.000060983,EXAC_SAS_AF,DSPP
624325,4:88533583:G>A,88533583,NM_014208.3,NM_014208.3:c.245G>A,NP_055023.2:p.Gly82Asp,82,4/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,19.88,0.0000150807,EXAC_NFE_AF,DSPP
624326,4:88533583:G>T,88533583,NM_014208.3,NM_014208.3:c.245G>T,NP_055023.2:p.Gly82Val,82,4/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,19.73,0.0000609979,EXAC_SAS_AF,DSPP
624327,4:88533586:C>T,88533586,NM_014208.3,NM_014208.3:c.248C>T,NP_055023.2:p.Ser83Phe,83,4/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,22.4,0.000120773,EVS_EA_AF,DSPP
624328,4:88533601:T>A,88533601,NM_014208.3,NM_014208.3:c.263T>A,NP_055023.2:p.Val88Glu,88,4/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,19.5,0.0000301923,EXAC_NFE_AF,DSPP
624329,4:88533601:T>C,88533601,NM_014208.3,NM_014208.3:c.263T>C,NP_055023.2:p.Val88Ala,88,4/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,11.32,0.000348736,EXAC_AMR_AF,DSPP
624330,4:88533602:A>T,88533602,NM_014208.3,NM_014208.3:c.264A>T,NP_055023.2:p.Val88=,88,4/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,0.028,0.000454683,EXAC_FIN_AF,DSPP
624331,4:88533603:G>C,88533603,NM_014208.3,NM_014208.3:c.265G>C,NP_055023.2:p.Gly89Arg,89,4/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,14.21,0.000454408,EXAC_FIN_AF,DSPP
624332,4:88533608:G>A,88533608,NM_014208.3,NM_014208.3:c.270G>A,NP_055023.2:p.Gly90=,90,4/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,5.027,\N,\N,DSPP
624333,4:88533608:G>C,88533608,NM_014208.3,NM_014208.3:c.270G>C,NP_055023.2:p.Gly90=,90,4/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,1.128,0.000116932,EXAC_EAS_AF,DSPP
624334,4:88533617:T>G,88533617,NM_014208.3,NM_014208.3:c.279T>G,NP_055023.2:p.Phe93Leu,93,4/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,8.42,0.0000151039,EXAC_NFE_AF,DSPP
624335,4:88533622:C>T,88533622,NM_014208.3,NM_014208.3:c.284C>T,NP_055023.2:p.Thr95Ile,95,4/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,13.24,0.001,1KG_EUR_AF,DSPP
624336,4:88533626:T>A,88533626,NM_014208.3,NM_014208.3:c.288T>A,NP_055023.2:p.Tyr96Ter,96,4/5,\N,Unknown significance,\N,stop_gained,HIGH,\N,\N,25.1,0.0000150971,EXAC_NFE_AF,DSPP
624337,4:88533628:C>T,88533628,NM_014208.3,NM_014208.3:c.290C>T,NP_055023.2:p.Ser97Phe,97,4/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,17.39,0.0000609607,EXAC_SAS_AF,DSPP
624338,4:88533632:A>G,88533632,NM_014208.3,NM_014208.3:c.294A>G,NP_055023.2:p.Thr98=,98,4/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,0.097,0.000102585,EXAC_AFR_AF,DSPP
624339,4:88533641:C>T,88533641,NM_014208.3,NM_014208.3:c.303C>T,NP_055023.2:p.Asn101=,101,4/5,\N,Benign,\N,synonymous_variant,LOW,\N,\N,10.52,0.0156822,EVS_AA_AF,DSPP
624340,4:88533642:G>A,88533642,NM_014208.3,NM_014208.3:c.304G>A,NP_055023.2:p.Glu102Lys,102,4/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,20.4,0.000348129,EXAC_AMR_AF,DSPP
624341,4:88533655:T>C,88533655,NM_014208.3,NM_014208.3:c.317T>C,NP_055023.2:p.Ile106Thr,106,4/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,0.123,\N,\N,DSPP
624342,4:88533658:AG>A,88533658,NM_014208.3,NM_014208.3:c.323del,NP_055023.2:p.Gly108AlafsTer33,107,4/5,\N,Unknown significance,\N,frameshift_variant,HIGH,\N,\N,22.6,0.0000869414,EXAC_AMR_AF,DSPP
624343,4:88533661:G>A,88533661,NM_014208.3,NM_014208.3:c.323G>A,NP_055023.2:p.Gly108Asp,108,4/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,4.196,0.000151423,EXAC_FIN_AF,DSPP
624344,4:88533676:C>T,88533676,NM_014208.3,NM_014208.3:c.338C>T,NP_055023.2:p.Thr113Ile,113,4/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,9.78,0.000364742,EXAC_SAS_AF,DSPP
624345,4:88533677:A>G,88533677,NM_014208.3,NM_014208.3:c.339A>G,NP_055023.2:p.Thr113=,113,4/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,0.234,0.0000866551,EXAC_AMR_AF,DSPP
624346,4:88533678:G>A,88533678,NM_014208.3,NM_014208.3:c.340G>A,NP_055023.2:p.Gly114Arg,114,4/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,16.71,0.0000150362,EXAC_NFE_AF,DSPP
624347,4:88533683:A>G,88533683,NM_014208.3,NM_014208.3:c.345A>G,NP_055023.2:p.Lys115=,115,4/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,0.143,0.00015124,EXAC_FIN_AF,DSPP
624348,4:88533691:C>T,88533691,NM_014208.3,NM_014208.3:c.353C>T,NP_055023.2:p.Thr118Ile,118,4/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,20.7,0.0008,1KG_AFR_AF,DSPP
624349,4:88533695:T>A,88533695,NM_014208.3,NM_014208.3:c.357T>A,NP_055023.2:p.Tyr119Ter,119,4/5,\N,Unknown significance,\N,stop_gained,HIGH,\N,\N,29.2,0.0000300508,EXAC_NFE_AF,DSPP
624350,4:88533697:G>A,88533697,NM_014208.3,NM_014208.3:c.359G>A,NP_055023.2:p.Gly120Asp,120,4/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,8.634,0.0000150245,EXAC_NFE_AF,DSPP
624351,4:88533701:T>C,88533701,NM_014208.3,NM_014208.3:c.363T>C,NP_055023.2:p.His121=,121,4/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,0.017,0.000359368,EVS_EA_AF,DSPP
624352,4:88533705:G>GAACATATGTTCATCATGGGAAAGAA,88533705,NM_014208.3,NM_014208.3:c.367_368insAACATATGTTCATCATGGGAAAGAA,NP_055023.2:p.Gly123GlufsTer30,123,4/5,\N,Unknown significance,\N,frameshift_variant,HIGH,\N,\N,23.6,\N,\N,DSPP
624353,4:88533706:G>C,88533706,NM_014208.3,NM_014208.3:c.368G>C,NP_055023.2:p.Gly123Ala,123,4/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,8.14,0.00223214,EXAC_OTH_AF,DSPP
624354,4:88533709:T>A,88533709,NM_014208.3,NM_014208.3:c.371T>A,NP_055023.2:p.Ile124Lys,124,4/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,18.18,\N,\N,DSPP
624355,4:88533729:A>C,88533729,NM_014208.3,NM_014208.3:c.391A>C,NP_055023.2:p.Ile131Leu,131,4/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,0.946,0.0000150137,EXAC_NFE_AF,DSPP
624356,4:88533729:AT>A,88533729,NM_014208.3,NM_014208.3:c.392del,NP_055023.2:p.Ile131ThrfsTer10,131,4/5,\N,Unknown significance,\N,frameshift_variant,HIGH,\N,\N,8.037,0.000102145,EXAC_AFR_AF,DSPP
624357,4:88533730:T>C,88533730,NM_014208.3,NM_014208.3:c.392T>C,NP_055023.2:p.Ile131Thr,131,4/5,\N,Benign,\N,missense_variant,MODERATE,\N,\N,0.002,0.0877,1KG_AFR_AF,DSPP
624358,4:88533736:C>A,88533736,NM_014208.3,NM_014208.3:c.398C>A,NP_055023.2:p.Ala133Glu,133,4/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,10.48,0.0001731,EXAC_AMR_AF,DSPP
624359,4:88533738:A>C,88533738,NM_014208.3,NM_014208.3:c.400A>C,NP_055023.2:p.Asn134His,134,4/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,13.75,0.0000865351,EXAC_AMR_AF,DSPP
624360,4:88533750:G>A,88533750,NM_014208.3,NM_014208.3:c.412G>A,NP_055023.2:p.Gly138Arg,138,4/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,22.3,0.0014,1KG_AMR_AF,DSPP
624361,4:88533753:C>A,88533753,NM_014208.3,NM_014208.3:c.415C>A,NP_055023.2:p.Gln139Lys,139,4/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,7.344,0.00011636,EXAC_EAS_AF,DSPP
624362,4:88533761:C>T,88533761,NM_014208.3,NM_014208.3:c.423C>T,NP_055023.2:p.Ser141=,141,4/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,11.9,0.0000150119,EXAC_NFE_AF,DSPP
624363,4:88533763:T>C,88533763,NM_014208.3,NM_014208.3:c.425T>C,NP_055023.2:p.Ile142Thr,142,4/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,3.001,0.0000150087,EXAC_NFE_AF,DSPP
624364,4:88533766:T>C,88533766,NM_014208.3,NM_014208.3:c.428T>C,NP_055023.2:p.Ile143Thr,143,4/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,0.311,0.000952381,EXAC_AMR_AF,DSPP
624365,4:88533768:G>C,88533768,NM_014208.3,NM_014208.3:c.430G>C,NP_055023.2:p.Asp144His,144,4/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,13,0.0000607091,EXAC_SAS_AF,DSPP
624366,4:88533773:T>C,88533773,NM_014208.3,NM_014208.3:c.435T>C,NP_055023.2:p.Asn145=,145,4/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,0.053,0.0000866551,EXAC_AMR_AF,DSPP
624367,4:88533784:C>G,88533784,NM_014208.3,NM_014208.3:c.446C>G,NP_055023.2:p.Thr149Arg,149,4/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,10.76,0.0000606943,EXAC_SAS_AF,DSPP
624368,4:88533797:C>T,88533797,NM_014208.3,NM_014208.3:c.459C>T,NP_055023.2:p.Asn153=,153,4/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,4.284,0.000119446,EVS_EA_AF,DSPP
624369,4:88533800:T>C,88533800,NM_014208.3,NM_014208.3:c.462T>C,NP_055023.2:p.Thr154=,154,4/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,0.456,0.0000866251,EXAC_AMR_AF,DSPP
624370,4:88533815:T>C,88533815,NM_014208.3,NM_014208.3:c.477T>C,NP_055023.2:p.Asp159=,159,4/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,0.061,0.00111607,EXAC_OTH_AF,DSPP
624371,4:88533830:T>G,88533830,NM_014208.3,NM_014208.3:c.492T>G,NP_055023.2:p.Asn164Lys,164,4/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,1.842,0.0000150015,EXAC_NFE_AF,DSPP
624372,4:88533830:T>TG,88533830,NM_014208.3,NM_014208.3:c.496dup,NP_055023.2:p.Asp166GlyfsTer9,164-165,4/5,\N,Unknown significance,\N,frameshift_variant,HIGH,\N,\N,\N,\N,\N,DSPP
624373,4:88533831:G>A,88533831,NM_014208.3,NM_014208.3:c.493G>A,NP_055023.2:p.Gly165Arg,165,4/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,17.39,0.0000866101,EXAC_AMR_AF,DSPP
624374,4:88533833:G>A,88533833,NM_014208.3,NM_014208.3:c.495G>A,NP_055023.2:p.Gly165=,165,4/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,4.839,0.0000300003,EXAC_NFE_AF,DSPP
624375,4:88533834:G>A,88533834,NM_014208.3,NM_014208.3:c.496G>A,NP_055023.2:p.Asp166Asn,166,4/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,15.54,0.0000150002,EXAC_NFE_AF,DSPP
624376,4:88533836:T>C,88533836,NM_014208.3,NM_014208.3:c.498T>C,NP_055023.2:p.Asp166=,166,4/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,0.162,0.000116387,EXAC_EAS_AF,DSPP
624377,4:88533840:G>A,88533840,NM_014208.3,NM_014208.3:c.502G>A,NP_055023.2:p.Gly168Ser,168,4/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,17.15,0.0000866101,EXAC_AMR_AF,DSPP
624378,4:88533841:G>C,88533841,NM_014208.3,NM_014208.3:c.503G>C,NP_055023.2:p.Gly168Ala,168,4/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,8.11,0.000102062,EXAC_AFR_AF,DSPP
624379,4:88533842:C>T,88533842,NM_014208.3,NM_014208.3:c.504C>T,NP_055023.2:p.Gly168=,168,4/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,7.943,0.002,1KG_SAS_AF,DSPP
624380,4:88533843:G>A,88533843,NM_014208.3,NM_014208.3:c.505G>A,NP_055023.2:p.Asp169Asn,169,4/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,7.867,0.000246063,EVS_AA_AF,DSPP
624381,4:88533850:G>A,88533850,NM_014208.3,NM_014208.3:c.512G>A,NP_055023.2:p.Gly171Asp,171,4/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,13.71,0.000119246,EVS_EA_AF,DSPP
624382,4:88533860:G>A,88533860,NM_014208.3,NM_014208.3:c.522G>A,NP_055023.2:p.Glu174=,174,4/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,0.184,0.0000149934,EXAC_NFE_AF,DSPP
624383,4:88533861:G>T,88533861,NM_014208.3,NM_014208.3:c.523G>T,NP_055023.2:p.Asp175Tyr,175,4/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,13.53,\N,\N,DSPP
624384,4:88533865:T>A,88533865,NM_014208.3,NM_014208.3:c.527T>A,NP_055023.2:p.Val176Asp,176,4/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,0.032,0.000179915,EXAC_NFE_AF,DSPP
624385,4:88533866:C>T,88533866,NM_014208.3,NM_014208.3:c.528C>T,NP_055023.2:p.Val176=,176,4/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,11.93,0.000349081,EXAC_EAS_AF,DSPP
624386,4:88533867:G>A,88533867,NM_014208.3,NM_014208.3:c.529G>A,NP_055023.2:p.Ala177Thr,177,4/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,0.392,0.000306247,EXAC_AFR_AF,DSPP
624387,4:88533893:A>T,88533893,NM_014208.3,NM_014208.3:c.555A>T,NP_055023.2:p.Gln185His,185,4/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,12.53,0.00015124,EXAC_FIN_AF,DSPP
624388,4:88533898:C>T,88533898,NM_014208.3,NM_014208.3:c.560C>T,NP_055023.2:p.Ala187Val,187,4/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,3.46,0.0000149898,EXAC_NFE_AF,DSPP
624389,4:88533905:C>T,88533905,NM_014208.3,NM_014208.3:c.567C>T,NP_055023.2:p.Ser189=,189,4/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,9.678,0.001,1KG_EAS_AF,DSPP
624390,4:88533910:A>T,88533910,NM_014208.3,NM_014208.3:c.572A>T,NP_055023.2:p.Asn191Ile,191,4/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,14.73,\N,\N,DSPP
624391,4:88533912:A>C,88533912,NM_014208.3,NM_014208.3:c.574A>C,NP_055023.2:p.Ser192Arg,192,4/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,11.1,0.0000149885,EXAC_NFE_AF,DSPP
624392,4:88533914:T>G,88533914,NM_014208.3,NM_014208.3:c.576T>G,NP_055023.2:p.Ser192Arg,192,4/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,13.62,0.0000606208,EXAC_SAS_AF,DSPP
624393,4:88533915:A>G,88533915,NM_014208.3,NM_014208.3:c.577A>G,NP_055023.2:p.Thr193Ala,193,4/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,13.55,0.001,1KG_EAS_AF,DSPP
624394,4:88533922:A>G,88533922,NM_014208.3,NM_014208.3:c.584A>G,NP_055023.2:p.Asn195Ser,195,4/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,6.259,0.000102062,EXAC_AFR_AF,DSPP
624395,4:88533926:G>T,88533926,NM_014208.3,NM_014208.3:c.588G>T,NP_055023.2:p.Glu196Asp,196,4/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,10.89,0.000232342,EXAC_EAS_AF,DSPP
624396,4:88533949:G>T,88533949,NM_014208.3,NM_014208.3:c.611G>T,NP_055023.2:p.Cys204Phe,204,4/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,14.93,0.0000149885,EXAC_NFE_AF,DSPP
624397,4:88533956:C>T,88533956,NM_014208.3,NM_014208.3:c.618C>T,NP_055023.2:p.Asn206=,206,4/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,9.54,0.0000149889,EXAC_NFE_AF,DSPP
624398,4:88533957:G>A,88533957,NM_014208.3,NM_014208.3:c.619G>A,NP_055023.2:p.Glu207Lys,207,4/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,22.3,0.0000149876,EXAC_NFE_AF,DSPP
624399,4:88533961:G>T,88533961,NM_014208.3,NM_014208.3:c.623G>T,NP_055023.2:p.Gly208Val,208,4/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,12.72,\N,\N,DSPP
624400,4:88533962:T>C,88533962,NM_014208.3,NM_014208.3:c.624T>C,NP_055023.2:p.Gly208=,208,4/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,0.101,0.0000149889,EXAC_NFE_AF,DSPP
624401,4:88533970:G>A,88533970,NM_014208.3,NM_014208.3:c.632G>A,NP_055023.2:p.Ser211Asn,211,4/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,0.044,0.000232504,EXAC_EAS_AF,DSPP
624402,4:88533976:T>C,88533976,NM_014208.3,NM_014208.3:c.638T>C,NP_055023.2:p.Ile213Thr,213,4/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,0.032,0.000116225,EXAC_EAS_AF,DSPP
624403,4:88533982:C>G,88533982,NM_014208.3,NM_014208.3:c.644C>G,NP_055023.2:p.Pro215Arg,215,4/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,18.96,0.001,1KG_EUR_AF,DSPP
624404,4:88533995:C>T,88533995,NM_014208.3,NM_014208.3:c.657C>T,NP_055023.2:p.Ser219=,219,4/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,8.419,0.0008,1KG_AFR_AF,DSPP
624405,4:88534007:G>T,88534007,NM_014208.3,NM_014208.3:c.669G>T,NP_055023.2:p.Gly223=,223,4/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,0.911,0.000121256,EXAC_SAS_AF,DSPP
624406,4:88534011:A>G,88534011,NM_014208.3,NM_014208.3:c.673A>G,NP_055023.2:p.Lys225Glu,225,4/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,0.023,0.000250501,EVS_AA_AF,DSPP
624407,4:88534016:A>T,88534016,NM_014208.3,NM_014208.3:c.678A>T,NP_055023.2:p.Glu226Asp,226,4/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,11.71,0.000060584,EXAC_SAS_AF,DSPP
624408,4:88534021:AGGTAAC>A,88534021,NM_014208.3,NM_014208.3:c.684_689del,NP_055023.2:p.Val229_Thr230del,228-230,4/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,8.513,\N,\N,DSPP
624409,4:88534029:C>A,88534029,NM_014208.3,NM_014208.3:c.691C>A,NP_055023.2:p.Pro231Thr,231,4/5,\N,Benign,\N,missense_variant,MODERATE,\N,\N,14.88,0.0308163,EXAC_AFR_AF,DSPP
624410,4:88534033:G>T,88534033,NM_014208.3,NM_014208.3:c.695G>T,NP_055023.2:p.Gly232Val,232,4/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,12.63,0.000116171,EXAC_EAS_AF,DSPP
624411,4:88534041:G>A,88534041,NM_014208.3,NM_014208.3:c.703G>A,NP_055023.2:p.Glu235Lys,235,4/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,22.2,0.000121197,EXAC_SAS_AF,DSPP
624412,4:88534046:T>C,88534046,NM_014208.3,NM_014208.3:c.708T>C,NP_055023.2:p.Asp236=,236,4/5,\N,Benign,\N,synonymous_variant,LOW,\N,\N,0.105,0.174,1KG_AFR_AF,DSPP
624413,4:88534048:C>T,88534048,NM_014208.3,NM_014208.3:c.710C>T,NP_055023.2:p.Ala237Val,237,4/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,12.28,0.0000606061,EXAC_SAS_AF,DSPP
624414,4:88534051:G>A,88534051,NM_014208.3,NM_014208.3:c.713G>A,NP_055023.2:p.Gly238Asp,238,4/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,16.64,0.000434678,EXAC_NFE_AF,DSPP
624415,4:88534064:C>T,88534064,NM_014208.3,NM_014208.3:c.726C>T,NP_055023.2:p.Ser242=,242,4/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,13.32,0.000489476,EVS_AA_AF,DSPP
624416,4:88534065:G>A,88534065,NM_014208.3,NM_014208.3:c.727G>A,NP_055023.2:p.Asp243Asn,243,4/5,\N,Benign,\N,missense_variant,MODERATE,\N,\N,23,0.380997,EXAC_EAS_AF,DSPP
624417,4:88534065:G>T,88534065,NM_014208.3,NM_014208.3:c.727G>T,NP_055023.2:p.Asp243Tyr,243,4/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,23,0.000102041,EXAC_AFR_AF,DSPP
624418,4:88534069:G>T,88534069,NM_014208.3,NM_014208.3:c.731G>T,NP_055023.2:p.Gly244Val,244,4/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,23.7,0.000115955,EXAC_EAS_AF,DSPP
624419,4:88534070:G>A,88534070,NM_014208.3,NM_014208.3:c.732G>A,NP_055023.2:p.Gly244=,244,4/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,10.6,\N,\N,DSPP
624420,4:88534087:GAGC>G,88534087,NM_014208.3,NM_014208.3:c.752_754del,NP_055023.2:p.Ala251del,250-251,4/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,16.43,0.000115929,EXAC_EAS_AF,DSPP
624421,4:88534087:G>C,88534087,NM_014208.3,NM_014208.3:c.749G>C,NP_055023.2:p.Gly250Ala,250,4/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,23.1,0.000151194,EXAC_FIN_AF,DSPP
624422,4:88534106:C>T,88534106,NM_014208.3,NM_014208.3:c.768C>T,NP_055023.2:p.Asp256=,256,4/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,17.37,0.00145702,EVS_AA_AF,DSPP
624423,4:88534107:G>A,88534107,NM_014208.3,NM_014208.3:c.769G>A,NP_055023.2:p.Glu257Lys,257,4/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,15.46,0.00017304,EXAC_AMR_AF,DSPP
624424,4:88534111:G>A,88534111,NM_014208.3,NM_014208.3:c.773G>A,NP_055023.2:p.Gly258Asp,258,4/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,24.6,0.0000149871,EXAC_NFE_AF,DSPP
624425,4:88534112:T>G,88534112,NM_014208.3,NM_014208.3:c.774T>G,NP_055023.2:p.Gly258=,258,4/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,10.66,\N,\N,DSPP
624426,4:88534114:C>T,88534114,NM_014208.3,NM_014208.3:c.776C>T,NP_055023.2:p.Ser259Phe,259,4/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,25.3,0.00004496,EXAC_NFE_AF,DSPP
624427,4:88534115:T>C,88534115,NM_014208.3,NM_014208.3:c.777T>C,NP_055023.2:p.Ser259=,259,4/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,9.736,0.00102041,EXAC_AFR_AF,DSPP
624428,4:88534119:G>A,88534119,NM_014208.3,NM_014208.3:c.781G>A,NP_055023.2:p.Asp261Asn,261,4/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,24.2,0.0000605767,EXAC_SAS_AF,DSPP
624429,4:88534119:G>C,88534119,NM_014208.3,NM_014208.3:c.781G>C,NP_055023.2:p.Asp261His,261,4/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,23.7,0.00010202,EXAC_AFR_AF,DSPP
624430,4:88534128:G>T,88534128,NM_014208.3,NM_014208.3:c.790G>T,NP_055023.2:p.Asp264Tyr,264,4/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,23.5,\N,\N,DSPP
624431,4:88534137:G>T,88534137,NM_014208.3,NM_014208.3:c.799G>T,NP_055023.2:p.Ala267Ser,267,4/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,0.096,0.0000605767,EXAC_SAS_AF,DSPP
624432,4:88534138:C>A,88534138,NM_014208.3,NM_014208.3:c.800C>A,NP_055023.2:p.Ala267Glu,267,4/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,18.48,0.000119332,EVS_EA_AF,DSPP
624433,4:88534140:G>T,88534140,NM_014208.3,NM_014208.3:c.802G>T,NP_055023.2:p.Gly268Trp,268,4/5,\N,Benign,\N,missense_variant,MODERATE,\N,\N,20.5,0.0308163,EXAC_AFR_AF,DSPP
624434,4:88534163:T>C,88534163,NM_014208.3,NM_014208.3:c.825T>C,NP_055023.2:p.Asn275=,275,4/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,0.235,0.0000149871,EXAC_NFE_AF,DSPP
624435,4:88534169:CA>C,88534169,NM_014208.3,NM_014208.3:c.833del,NP_055023.2:p.Lys278ArgfsTer18,278,4/5,\N,Unknown significance,\N,frameshift_variant,HIGH,\N,\N,23.1,0.0000149858,EXAC_NFE_AF,DSPP
624436,4:88534170:AAGGGCCAGG>A,88534170,NM_014208.3,NM_014208.3:c.843_851del,NP_055023.2:p.Glu281_Gln283del,278-281,4/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,14.19,\N,\N,DSPP
624437,4:88534172:G>A,88534172,NM_014208.3,NM_014208.3:c.834G>A,NP_055023.2:p.Lys278=,278,4/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,9.237,0.0000449573,EXAC_NFE_AF,DSPP
624438,4:88534176:CAGG>C,88534176,NM_014208.3,NM_014208.3:c.842_844del,NP_055023.2:p.Glu281del,280-281,4/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,13.4,\N,\N,DSPP
624439,4:88534179:G>GCT,88534179,NM_014208.3,NM_014208.3:c.841_842insCT,NP_055023.2:p.Glu281AlafsTer16,281,4/5,\N,Unknown significance,\N,frameshift_variant,HIGH,\N,\N,23.6,\N,\N,DSPP
624440,4:88534185:C>T,88534185,NM_014208.3,NM_014208.3:c.847C>T,NP_055023.2:p.Gln283Ter,283,4/5,\N,Unknown significance,\N,stop_gained,HIGH,\N,\N,34,0.000121153,EXAC_SAS_AF,DSPP
624441,4:88534189:A>G,88534189,NM_014208.3,NM_014208.3:c.851A>G,NP_055023.2:p.Asp284Gly,284,4/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,0.23,0.000302883,EXAC_SAS_AF,DSPP
624442,4:88534191:C>G,88534191,NM_014208.3,NM_014208.3:c.853C>G,NP_055023.2:p.His285Asp,285,4/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,2.362,0.0000863856,EXAC_AMR_AF,DSPP
624443,4:88534197:AAAG>A,88534197,NM_014208.3,NM_014208.3:c.864_866del,NP_055023.2:p.Glu288del,287-288,4/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,0.151,0.000014988,EXAC_NFE_AF,DSPP
624444,4:88534207:A>T,88534207,NM_014208.3,NM_014208.3:c.869A>T,NP_055023.2:p.Asp290Val,290,4/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,10.78,0.00111359,EXAC_OTH_AF,DSPP
624445,4:88534217:T>C,88534217,NM_014208.3,NM_014208.3:c.879T>C,NP_055023.2:p.Ser293=,293,4/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,0.667,0.000254712,EVS_AA_AF,DSPP
624446,4:88534223:A>G,88534223,NM_014208.3,NM_014208.3:c.885A>G,NP_055023.2:p.Ile295Met,295,4/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,1.052,0.000256805,EVS_AA_AF,DSPP
624447,4:88534225:G>T,88534225,NM_014208.3,NM_014208.3:c.887G>T,NP_055023.2:p.Gly296Val,296,4/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,15.85,0.00111359,EXAC_OTH_AF,DSPP
624448,4:88534229:A>G,88534229,NM_014208.3,NM_014208.3:c.891A>G,NP_055023.2:p.Gln297=,297,4/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,0.01,0.0000864155,EXAC_AMR_AF,DSPP
624449,4:88534235:A>G,88534235,NM_014208.3,NM_014208.3:c.897A>G,NP_055023.2:p.Ser299=,299,4/5,\N,Benign,\N,synonymous_variant,LOW,\N,\N,0.095,0.7648,1KG_AFR_AF,DSPP
624450,4:88534235:AGA>GGG,88534235,NM_014208.3,NM_014208.3:c.897_899delinsGGG,NP_055023.2:p.Asp300Gly,299-300,4/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,\N,\N,\N,DSPP
624451,4:88534237:A>G,88534237,NM_014208.3,NM_014208.3:c.899A>G,NP_055023.2:p.Asp300Gly,300,4/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,0.026,0.00103788,EVS_AA_AF,DSPP
624452,4:88534239:A>G,88534239,NM_014208.3,NM_014208.3:c.901A>G,NP_055023.2:p.Ser301Gly,301,4/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,12.81,\N,\N,DSPP
624453,4:88534241:T>G,88534241,NM_014208.3,NM_014208.3:c.903T>G,NP_055023.2:p.Ser301Arg,301,4/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,15.06,0.00246457,EXAC_AFR_AF,DSPP
624454,4:88534257:C>T,88534257,NM_014208.3,NM_014208.3:c.919C>T,NP_055023.2:p.Pro307Ser,307,4/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,13.27,0.0000150267,EXAC_NFE_AF,DSPP
624455,4:88534259:T>C,88534259,NM_014208.3,NM_014208.3:c.921T>C,NP_055023.2:p.Pro307=,307,4/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,0.062,0.0000150277,EXAC_NFE_AF,DSPP
624456,4:88534270:A>G,88534270,NM_014208.3,NM_014208.3:c.932A>G,NP_055023.2:p.Glu311Gly,311,4/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,21.1,0.000349813,EXAC_EAS_AF,DSPP
624457,4:88534280:T>C,88534280,NM_014208.3,NM_014208.3:c.942T>C,NP_055023.2:p.His314=,314,4/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,0.033,0.000467071,EXAC_EAS_AF,DSPP
624458,4:88534281:A>G,88534281,NM_014208.3,NM_014208.3:c.943A>G,NP_055023.2:p.Asn315Asp,315,4/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,15.33,0.0000867754,EXAC_AMR_AF,DSPP
624459,4:88534283:T>C,88534283,NM_014208.3,NM_014208.3:c.945T>C,NP_055023.2:p.Asn315=,315,4/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,0.055,0.0000150652,EXAC_NFE_AF,DSPP
624460,4:88534288:T>A,88534288,NM_014208.3,NM_014208.3:c.950T>A,NP_055023.2:p.Val317Asp,317,4/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,0.001,0.0000150689,EXAC_NFE_AF,DSPP
624461,4:88534288:T>C,88534288,NM_014208.3,NM_014208.3:c.950T>C,NP_055023.2:p.Val317Ala,317,4/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,0.001,0.000116795,EXAC_EAS_AF,DSPP
624462,4:88534292:T>C,88534292,NM_014208.3,NM_014208.3:c.954T>C,NP_055023.2:p.Asp318=,318,4/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,0.004,0.00221963,EXAC_EAS_AF,DSPP
624463,4:88534300:A>G,88534300,NM_014208.3,NM_014208.3:c.962A>G,NP_055023.2:p.Lys321Arg,321,4/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,6.151,0.000347524,EXAC_AMR_AF,DSPP
624464,4:88534303:C>A,88534303,NM_014208.3,NM_014208.3:c.965C>A,NP_055023.2:p.Thr322Asn,322,4/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,14.1,0.00292056,EXAC_EAS_AF,DSPP
624465,4:88534307:C>T,88534307,NM_014208.3,NM_014208.3:c.969C>T,NP_055023.2:p.Ser323=,323,4/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,11.1,0.0000151126,EXAC_NFE_AF,DSPP
624466,4:88534312:G>A,88534312,NM_014208.3,NM_014208.3:c.974G>A,NP_055023.2:p.Ser325Asn,325,4/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,23.1,0.000121566,EVS_EA_AF,DSPP
624467,4:88534312:G>C,88534312,NM_014208.3,NM_014208.3:c.974G>C,NP_055023.2:p.Ser325Thr,325,4/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,22.8,0.0008,1KG_AFR_AF,DSPP
624468,4:88534315:A>G,88534315,NM_014208.3,NM_014208.3:c.977A>G,NP_055023.2:p.Glu326Gly,326,4/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,24,0.0000151359,EXAC_NFE_AF,DSPP
624469,4:88534319:G>T,88534319,NM_014208.3,NM_014208.3:c.981G>T,NP_055023.2:p.Glu327Asp,327,4/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,11.5,0.0000454601,EXAC_NFE_AF,DSPP
624470,4:88534324:C>A,88534324,NM_014208.3,NM_014208.3:c.986C>A,NP_055023.2:p.Ser329Tyr,329,4/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,16.58,0.000265957,EVS_AA_AF,DSPP
624471,4:88534326:G>A,88534326,NM_014208.3,NM_014208.3:c.988G>A,NP_055023.2:p.Ala330Thr,330,4/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,15.44,0.00460829,EXAC_AFR_AF,DSPP
624472,4:88534329:G>A,88534329,NM_014208.3,NM_014208.3:c.991G>A,NP_055023.2:p.Gly331Ser,331,4/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,3.557,\N,\N,DSPP
624473,4:88534330:G>C,88534330,NM_014208.3,NM_014208.3:c.992G>C,NP_055023.2:p.Gly331Ala,331,4/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,10.75,0.00011685,EXAC_EAS_AF,DSPP
624474,4:88534331:T>C,88534331,NM_014208.3,NM_014208.3:c.993T>C,NP_055023.2:p.Gly331=,331,4/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,0.085,0.0000869414,EXAC_AMR_AF,DSPP
624475,4:88534336:C>T,88534336,NM_014208.3,NM_014208.3:c.998C>T,NP_055023.2:p.Pro333Leu,333,4/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,2.028,0.000121359,EVS_EA_AF,DSPP
624476,4:88534337:A>G,88534337,NM_014208.3,NM_014208.3:c.999A>G,NP_055023.2:p.Pro333=,333,4/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,0.054,0.000211104,EXAC_AFR_AF,DSPP
624477,4:88534352:C>A,88534352,NM_014208.3,NM_014208.3:c.1014C>A,NP_055023.2:p.Ser338Arg,338,4/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,17.27,\N,\N,DSPP
624478,4:88534360:T>C,88534360,NM_014208.3,NM_014208.3:c.1022T>C,NP_055023.2:p.Ile341Thr,341,4/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,0.006,0.0000153355,EXAC_NFE_AF,DSPP
624479,4:88534362:G>A,88534362,NM_014208.3,NM_014208.3:c.1024G>A,NP_055023.2:p.Glu342Lys,342,4/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,18.69,0.000727626,EVS_EA_AF,DSPP
624480,4:88534368:A>G,88534368,NM_014208.3,NM_014208.3:c.1030A>G,NP_055023.2:p.Thr344Ala,344,4/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,0.069,0.00026441,EVS_AA_AF,DSPP
624481,4:88534369:C>A,88534369,NM_014208.3,NM_014208.3:c.1031C>A,NP_055023.2:p.Thr344Asn,344,4/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,14.98,0.000234522,EXAC_EAS_AF,DSPP
624482,4:88534370:C>G,88534370,NM_014208.3,NM_014208.3:c.1032C>G,NP_055023.2:p.Thr344=,344,4/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,9.313,0.0000154093,EXAC_NFE_AF,DSPP
624483,4:88534370:C>T,88534370,NM_014208.3,NM_014208.3:c.1032C>T,NP_055023.2:p.Thr344=,344,4/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,10.83,0.0000608051,EXAC_SAS_AF,DSPP
624484,4:88534376:G>A,88534376,NM_014208.3,NM_014208.3:c.1038G>A,NP_055023.2:p.Lys346=,346,4/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,4.987,0.001,1KG_EAS_AF,DSPP
624485,4:88534389:GAA>G,88534389,NM_014208.3,NM_014208.3:c.1053_1054del,NP_055023.2:p.Ser352GlnfsTer6,351,4/5,\N,Unknown significance,\N,frameshift_variant,HIGH,\N,\N,22.4,0.000117481,EXAC_EAS_AF,DSPP
624486,4:88534391:A>G,88534391,NM_014208.3,NM_014208.3:c.1053A>G,NP_055023.2:p.Glu351=,351,4/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,0.145,0.000117536,EXAC_EAS_AF,DSPP
624487,4:88534398:C>T,88534398,NM_014208.3,NM_014208.3:c.1060C>T,NP_055023.2:p.Arg354Cys,354,4/5,\N,Benign,\N,missense_variant,MODERATE,\N,\N,11.64,0.0092,1KG_SAS_AF,DSPP
624488,4:88534399:G>A,88534399,NM_014208.3,NM_014208.3:c.1061G>A,NP_055023.2:p.Arg354His,354,4/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,6.794,0.000117647,EXAC_EAS_AF,DSPP
624489,4:88534399:G>T,88534399,NM_014208.3,NM_014208.3:c.1061G>T,NP_055023.2:p.Arg354Leu,354,4/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,5.08,\N,\N,DSPP
624490,4:88534400:C>T,88534400,NM_014208.3,NM_014208.3:c.1062C>T,NP_055023.2:p.Arg354=,354,4/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,12.36,0.000174551,EXAC_AMR_AF,DSPP
624491,4:88534401:G>A,88534401,NM_014208.3,NM_014208.3:c.1063G>A,NP_055023.2:p.Val355Ile,355,4/5,\N,Benign,\N,missense_variant,MODERATE,\N,\N,17.19,0.0136,1KG_AFR_AF,DSPP
624492,4:88534410:A>G,88534410,NM_014208.3,NM_014208.3:c.1072A>G,NP_055023.2:p.Arg358Gly,358,4/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,0.456,\N,\N,DSPP
624493,4:88534411:G>A,88534411,NM_014208.3,NM_014208.3:c.1073G>A,NP_055023.2:p.Arg358Lys,358,4/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,4.459,0.00150428,EXAC_AFR_AF,DSPP
624494,4:88534413:A>ATCACC,88534413,NM_014208.3,NM_014208.3:c.1076_1080dup,NP_055023.2:p.Lys361SerfsTer18,359,4/5,\N,Unknown significance,\N,frameshift_variant,HIGH,\N,\N,24.4,\N,\N,DSPP
624495,4:88534419:A>G,88534419,NM_014208.3,NM_014208.3:c.1081A>G,NP_055023.2:p.Lys361Glu,361,4/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,4.626,0.000349528,EXAC_AMR_AF,DSPP
624496,4:88534424:A>G,88534424,NM_014208.3,NM_014208.3:c.1086A>G,NP_055023.2:p.Glu362=,362,4/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,4.938,0.0000158448,EXAC_NFE_AF,DSPP
624497,4:88534428:G>C,88534428,NM_014208.3,NM_014208.3:c.1090G>C,NP_055023.2:p.Glu364Gln,364,4/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,13.75,0.0000475783,EXAC_NFE_AF,DSPP
624498,4:88534435:A>G,88534435,NM_014208.3,NM_014208.3:c.1097A>G,NP_055023.2:p.His366Arg,366,4/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,1.28,0.000122609,EXAC_SAS_AF,DSPP
624499,4:88534436:T>C,88534436,NM_014208.3,NM_014208.3:c.1098T>C,NP_055023.2:p.His366=,366,4/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,0.009,0.0000158927,EXAC_NFE_AF,DSPP
624500,4:88534437:G>A,88534437,NM_014208.3,NM_014208.3:c.1099G>A,NP_055023.2:p.Ala367Thr,367,4/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,2.153,0.00011798,EXAC_AFR_AF,DSPP
624501,4:88534441:T>C,88534441,NM_014208.3,NM_014208.3:c.1103T>C,NP_055023.2:p.Val368Ala,368,4/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,0.158,0.000031841,EXAC_NFE_AF,DSPP
624502,4:88534448:G>A,88534448,NM_014208.3,NM_014208.3:c.1110G>A,NP_055023.2:p.Lys370=,370,4/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,9.717,0.0000319213,EXAC_NFE_AF,DSPP
624503,4:88534450:G>A,88534450,NM_014208.3,NM_014208.3:c.1112G>A,NP_055023.2:p.Ser371Asn,371,4/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,14.92,0.0000159806,EXAC_NFE_AF,DSPP
624504,4:88534451:C>T,88534451,NM_014208.3,NM_014208.3:c.1113C>T,NP_055023.2:p.Ser371=,371,4/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,11.83,0.0000159811,EXAC_NFE_AF,DSPP
624505,4:88534457:T>A,88534457,NM_014208.3,NM_014208.3:c.1119T>A,NP_055023.2:p.Asp373Glu,373,4/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,21.6,0.000016021,EXAC_NFE_AF,DSPP
624506,4:88534476:T>C,88534476,NM_014208.3,NM_014208.3:c.1122+16T>C,\N,\N,\N,4/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.379,0.000240269,EXAC_AFR_AF,DSPP
624507,4:88534482:C>A,88534482,NM_014208.3,NM_014208.3:c.1122+22C>A,\N,\N,\N,4/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.404,0.0008,1KG_AFR_AF,DSPP
624508,4:88534490:G>A,88534490,NM_014208.3,NM_014208.3:c.1122+30G>A,\N,\N,\N,4/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.612,0.000604011,EXAC_AFR_AF,DSPP
624509,4:88534494:G>T,88534494,NM_014208.3,NM_014208.3:c.1122+34G>T,\N,\N,\N,4/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.268,0.000121065,EXAC_AFR_AF,DSPP
624510,4:88534503:C>A,88534503,NM_014208.3,NM_014208.3:c.1122+43C>A,\N,\N,\N,4/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.278,0.0000628457,EXAC_SAS_AF,DSPP
624511,4:88534504:T>A,88534504,NM_014208.3,NM_014208.3:c.1122+44T>A,\N,\N,\N,4/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.792,\N,\N,DSPP
624512,4:88534505:T>C,88534505,NM_014208.3,NM_014208.3:c.1122+45T>C,\N,\N,\N,4/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.432,0.0014,1KG_AMR_AF,DSPP
624513,4:88534508:C>T,88534508,NM_014208.3,NM_014208.3:c.1122+48C>T,\N,\N,\N,4/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.928,0.0000164058,EXAC_NFE_AF,DSPP
624514,4:88534510:T>C,88534510,NM_014208.3,NM_014208.3:c.1122+50T>C,\N,\N,\N,4/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.459,0.0000164193,EXAC_NFE_AF,DSPP
624515,4:88534515:C>T,88534515,NM_014208.3,NM_014208.3:c.1122+55C>T,\N,\N,\N,4/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.672,0.001,1KG_SAS_AF,DSPP
624516,4:88534519:T>C,88534519,NM_014208.3,NM_014208.3:c.1122+59T>C,\N,\N,\N,4/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.281,\N,\N,DSPP
624517,4:88534527:G>A,88534527,NM_014208.3,NM_014208.3:c.1122+67G>A,\N,\N,\N,4/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.103,0.001,1KG_SAS_AF,DSPP
624518,4:88534543:T>G,88534543,NM_014208.3,NM_014208.3:c.1122+83T>G,\N,\N,\N,4/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,8.308,\N,\N,DSPP
624519,4:88534545:A>T,88534545,NM_014208.3,NM_014208.3:c.1122+85A>T,\N,\N,\N,4/4,Benign,\N,intron_variant,MODIFIER,\N,\N,7.23,0.0068,1KG_AFR_AF,DSPP
624520,4:88534558:T>C,88534558,NM_014208.3,NM_014208.3:c.1122+98T>C,\N,\N,\N,4/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.099,\N,\N,DSPP
624521,4:88534575:T>G,88534575,NM_014208.3,NM_014208.3:c.1122+115T>G,\N,\N,\N,4/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,6.179,0.0031,1KG_SAS_AF,DSPP
624522,4:88534584:A>G,88534584,NM_014208.3,NM_014208.3:c.1122+124A>G,\N,\N,\N,4/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.579,0.001,1KG_SAS_AF,DSPP
624523,4:88534616:C>T,88534616,NM_014208.3,NM_014208.3:c.1122+156C>T,\N,\N,\N,4/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.045,\N,\N,DSPP
624524,4:88534617:G>A,88534617,NM_014208.3,NM_014208.3:c.1122+157G>A,\N,\N,\N,4/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.168,0.0031,1KG_SAS_AF,DSPP
624525,4:88534663:T>C,88534663,NM_014208.3,NM_014208.3:c.1122+203T>C,\N,\N,\N,4/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.507,\N,\N,DSPP
624526,4:88534665:A>G,88534665,NM_014208.3,NM_014208.3:c.1122+205A>G,\N,\N,\N,4/4,Benign,\N,intron_variant,MODIFIER,\N,\N,5.961,0.0266,1KG_SAS_AF,DSPP
624527,4:88534668:C>A,88534668,NM_014208.3,NM_014208.3:c.1122+208C>A,\N,\N,\N,4/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,10.19,0.0014,1KG_AMR_AF,DSPP
624528,4:88534710:T>G,88534710,NM_014208.3,NM_014208.3:c.1123-227T>G,\N,\N,\N,4/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.955,\N,\N,DSPP
624529,4:88534716:A>G,88534716,NM_014208.3,NM_014208.3:c.1123-221A>G,\N,\N,\N,4/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.993,0.001,1KG_SAS_AF,DSPP
624530,4:88534763:G>A,88534763,NM_014208.3,NM_014208.3:c.1123-174G>A,\N,\N,\N,4/4,Benign,\N,intron_variant,MODIFIER,\N,\N,2.135,0.3865,1KG_AFR_AF,DSPP
624531,4:88534769:G>C,88534769,NM_014208.3,NM_014208.3:c.1123-168G>C,\N,\N,\N,4/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,0.798,\N,\N,DSPP
624532,4:88534775:T>C,88534775,NM_014208.3,NM_014208.3:c.1123-162T>C,\N,\N,\N,4/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.64,\N,\N,DSPP
624533,4:88534779:A>C,88534779,NM_014208.3,NM_014208.3:c.1123-158A>C,\N,\N,\N,4/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.565,\N,\N,DSPP
624534,4:88534793:G>A,88534793,NM_014208.3,NM_014208.3:c.1123-144G>A,\N,\N,\N,4/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.243,\N,\N,DSPP
624535,4:88534796:C>T,88534796,NM_014208.3,NM_014208.3:c.1123-141C>T,\N,\N,\N,4/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.917,0.001,1KG_EAS_AF,DSPP
624536,4:88534849:A>T,88534849,NM_014208.3,NM_014208.3:c.1123-88A>T,\N,\N,\N,4/4,Benign,\N,intron_variant,MODIFIER,\N,\N,1.031,0.0072,1KG_SAS_AF,DSPP
624537,4:88534858:C>A,88534858,NM_014208.3,NM_014208.3:c.1123-79C>A,\N,\N,\N,4/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.09,\N,\N,DSPP
624538,4:88534870:C>T,88534870,NM_014208.3,NM_014208.3:c.1123-67C>T,\N,\N,\N,4/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,8.448,\N,\N,DSPP
624539,4:88534871:T>A,88534871,NM_014208.3,NM_014208.3:c.1123-66T>A,\N,\N,\N,4/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,9.671,0.002,1KG_EUR_AF,DSPP
624540,4:88534872:C>T,88534872,NM_014208.3,NM_014208.3:c.1123-65C>T,\N,\N,\N,4/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,5.681,0.002,1KG_EUR_AF,DSPP
624541,4:88534888:T>G,88534888,NM_014208.3,NM_014208.3:c.1123-49T>G,\N,\N,\N,4/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,7.59,0.000231911,EXAC_EAS_AF,DSPP
624542,4:88534894:A>C,88534894,NM_014208.3,NM_014208.3:c.1123-43A>C,\N,\N,\N,4/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.472,0.0000300607,EXAC_NFE_AF,DSPP
624543,4:88534895:A>G,88534895,NM_014208.3,NM_014208.3:c.1123-42A>G,\N,\N,\N,4/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.896,\N,\N,DSPP
624544,4:88534898:AT>A,88534898,NM_014208.3,NM_014208.3:c.1123-37del,\N,\N,\N,4/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.531,0.0000300499,EXAC_NFE_AF,DSPP
624545,4:88534907:T>C,88534907,NM_014208.3,NM_014208.3:c.1123-30T>C,\N,\N,\N,4/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.329,0.0000150209,EXAC_NFE_AF,DSPP
624546,4:88534911:T>C,88534911,NM_014208.3,NM_014208.3:c.1123-26T>C,\N,\N,\N,4/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.139,0.0000150173,EXAC_NFE_AF,DSPP
624547,4:88534914:T>C,88534914,NM_014208.3,NM_014208.3:c.1123-23T>C,\N,\N,\N,4/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,3.152,\N,\N,DSPP
624548,4:88534916:C>T,88534916,NM_014208.3,NM_014208.3:c.1123-21C>T,\N,\N,\N,4/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.857,0.004,1KG_EAS_AF,DSPP
624549,4:88534922:T>C,88534922,NM_014208.3,NM_014208.3:c.1123-15T>C,\N,\N,\N,4/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,4.112,0.000151194,EXAC_FIN_AF,DSPP
624550,4:88534926:T>C,88534926,NM_014208.3,NM_014208.3:c.1123-11T>C,\N,\N,\N,4/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,1.748,0.000267237,EVS_AA_AF,DSPP
624551,4:88534928:C>T,88534928,NM_014208.3,NM_014208.3:c.1123-9C>T,\N,\N,\N,4/4,Unknown significance,\N,intron_variant,MODIFIER,\N,\N,2.01,0.0014,1KG_AMR_AF,DSPP
624552,4:88534932:C>T,88534932,NM_014208.3,NM_014208.3:c.1123-5C>T,\N,\N,\N,4/4,Unknown significance,\N,splice_region_variant&intron_variant,LOW,\N,\N,7.219,0.000115929,EXAC_EAS_AF,DSPP
624553,4:88534937:G>A,88534937,NM_014208.3,NM_014208.3:c.1123G>A,NP_055023.2:p.Gly375Arg,375,5/5,\N,Unknown significance,\N,missense_variant&splice_region_variant,MODERATE,\N,\N,22.6,0.000102082,EXAC_AFR_AF,DSPP
624554,4:88534940:A>G,88534940,NM_014208.3,NM_014208.3:c.1126A>G,NP_055023.2:p.Ile376Val,376,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,14.81,0.00120961,EXAC_AMR_AF,DSPP
624555,4:88534954:T>A,88534954,NM_014208.3,NM_014208.3:c.1140T>A,NP_055023.2:p.Gly380=,380,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,3.237,0.0000864006,EXAC_AMR_AF,DSPP
624556,4:88534963:T>C,88534963,NM_014208.3,NM_014208.3:c.1149T>C,NP_055023.2:p.Ser383=,383,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,1.634,0.0000864155,EXAC_AMR_AF,DSPP
624557,4:88534965:G>A,88534965,NM_014208.3,NM_014208.3:c.1151G>A,NP_055023.2:p.Gly384Asp,384,5/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,11.54,0.000302847,EXAC_SAS_AF,DSPP
624558,4:88534982:A>G,88534982,NM_014208.3,NM_014208.3:c.1168A>G,NP_055023.2:p.Lys390Glu,390,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,23.2,0.000302389,EXAC_FIN_AF,DSPP
624559,4:88534988:G>A,88534988,NM_014208.3,NM_014208.3:c.1174G>A,NP_055023.2:p.Val392Ile,392,5/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,7.219,0.000261233,EVS_AA_AF,DSPP
624560,4:88534988:G>T,88534988,NM_014208.3,NM_014208.3:c.1174G>T,NP_055023.2:p.Val392Phe,392,5/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,15.38,0.0000864155,EXAC_AMR_AF,DSPP
624561,4:88534999:C>T,88534999,NM_014208.3,NM_014208.3:c.1185C>T,NP_055023.2:p.Gly395=,395,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,8.069,0.000259875,EVS_AA_AF,DSPP
624562,4:88535002:C>T,88535002,NM_014208.3,NM_014208.3:c.1188C>T,NP_055023.2:p.Asn396=,396,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,8.091,0.0000449573,EXAC_NFE_AF,DSPP
624563,4:88535003:G>A,88535003,NM_014208.3,NM_014208.3:c.1189G>A,NP_055023.2:p.Glu397Lys,397,5/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,12.56,0.0000149849,EXAC_NFE_AF,DSPP
624564,4:88535003:G>C,88535003,NM_014208.3,NM_014208.3:c.1189G>C,NP_055023.2:p.Glu397Gln,397,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,15.01,0.000519211,EVS_AA_AF,DSPP
624565,4:88535004:A>C,88535004,NM_014208.3,NM_014208.3:c.1190A>C,NP_055023.2:p.Glu397Ala,397,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,13.36,0.000181708,EXAC_SAS_AF,DSPP
624566,4:88535011:A>G,88535011,NM_014208.3,NM_014208.3:c.1197A>G,NP_055023.2:p.Lys399=,399,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,0.032,0.0000299697,EXAC_NFE_AF,DSPP
624567,4:88535015:G>T,88535015,NM_014208.3,NM_014208.3:c.1201G>T,NP_055023.2:p.Asp401Tyr,401,5/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,10.03,0.001,1KG_SAS_AF,DSPP
624568,4:88535016:A>G,88535016,NM_014208.3,NM_014208.3:c.1202A>G,NP_055023.2:p.Asp401Gly,401,5/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,0.383,0.00138265,EXAC_AMR_AF,DSPP
624569,4:88535023:A>G,88535023,NM_014208.3,NM_014208.3:c.1209A>G,NP_055023.2:p.Gly403=,403,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,1.152,0.0000605767,EXAC_SAS_AF,DSPP
624570,4:88535029:T>C,88535029,NM_014208.3,NM_014208.3:c.1215T>C,NP_055023.2:p.His405=,405,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,0.008,0.001,1KG_SAS_AF,DSPP
624571,4:88535031:G>A,88535031,NM_014208.3,NM_014208.3:c.1217G>A,NP_055023.2:p.Gly406Glu,406,5/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,13.58,0.0008,1KG_AFR_AF,DSPP
624572,4:88535035:G>C,88535035,NM_014208.3,NM_014208.3:c.1221G>C,NP_055023.2:p.Met407Ile,407,5/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,1.145,0.0000149853,EXAC_NFE_AF,DSPP
624573,4:88535041:G>A,88535041,NM_014208.3,NM_014208.3:c.1227G>A,NP_055023.2:p.Leu409=,409,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,4.975,\N,\N,DSPP
624574,4:88535042:G>A,88535042,NM_014208.3,NM_014208.3:c.1228G>A,NP_055023.2:p.Gly410Ser,410,5/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,5.771,0.0000605767,EXAC_SAS_AF,DSPP
624575,4:88535043:G>A,88535043,NM_014208.3,NM_014208.3:c.1229G>A,NP_055023.2:p.Gly410Asp,410,5/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,14.69,0.0008,1KG_AFR_AF,DSPP
624576,4:88535050:C>T,88535050,NM_014208.3,NM_014208.3:c.1236C>T,NP_055023.2:p.Gly412=,412,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,9.394,0.000102041,EXAC_AFR_AF,DSPP
624577,4:88535058:A>G,88535058,NM_014208.3,NM_014208.3:c.1244A>G,NP_055023.2:p.Lys415Arg,415,5/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,3.825,0.0000149858,EXAC_NFE_AF,DSPP
624578,4:88535063:C>G,88535063,NM_014208.3,NM_014208.3:c.1249C>G,NP_055023.2:p.Gln417Glu,417,5/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,14.53,\N,\N,DSPP
624579,4:88535064:A>T,88535064,NM_014208.3,NM_014208.3:c.1250A>T,NP_055023.2:p.Gln417Leu,417,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,14.86,0.000151194,EXAC_FIN_AF,DSPP
624580,4:88535068:A>G,88535068,NM_014208.3,NM_014208.3:c.1254A>G,NP_055023.2:p.Gly418=,418,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,1.989,0.0000864304,EXAC_AMR_AF,DSPP
624581,4:88535071:G>A,88535071,NM_014208.3,NM_014208.3:c.1257G>A,NP_055023.2:p.Glu419=,419,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,3.676,0.0000149871,EXAC_NFE_AF,DSPP
624582,4:88535073:T>C,88535073,NM_014208.3,NM_014208.3:c.1259T>C,NP_055023.2:p.Val420Ala,420,5/5,\N,Benign,\N,missense_variant,MODERATE,\N,\N,0.002,0.0368914,EXAC_FIN_AF,DSPP
624583,4:88535077:C>T,88535077,NM_014208.3,NM_014208.3:c.1263C>T,NP_055023.2:p.Val421=,421,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,9.415,\N,\N,DSPP
624584,4:88535091:C>T,88535091,NM_014208.3,NM_014208.3:c.1277C>T,NP_055023.2:p.Pro426Leu,426,5/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,9.375,0.0000149889,EXAC_NFE_AF,DSPP
624585,4:88535097:A>C,88535097,NM_014208.3,NM_014208.3:c.1283A>C,NP_055023.2:p.Gln428Pro,428,5/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,0.041,0.0000864304,EXAC_AMR_AF,DSPP
624586,4:88535103:C>G,88535103,NM_014208.3,NM_014208.3:c.1289C>G,NP_055023.2:p.Ser430Ter,430,5/5,\N,Unknown significance,\N,stop_gained,HIGH,\N,\N,26.9,\N,\N,DSPP
624587,4:88535112:G>T,88535112,NM_014208.3,NM_014208.3:c.1298G>T,NP_055023.2:p.Gly433Val,433,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,13.1,0.000120627,EVS_EA_AF,DSPP
624588,4:88535128:C>G,88535128,NM_014208.3,NM_014208.3:c.1314C>G,NP_055023.2:p.His438Gln,438,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,15.05,0.000508906,EVS_AA_AF,DSPP
624589,4:88535128:C>T,88535128,NM_014208.3,NM_014208.3:c.1314C>T,NP_055023.2:p.His438=,438,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,6.003,0.000116198,EXAC_EAS_AF,DSPP
624590,4:88535139:G>A,88535139,NM_014208.3,NM_014208.3:c.1325G>A,NP_055023.2:p.Gly442Asp,442,5/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,19.99,0.0000863856,EXAC_AMR_AF,DSPP
624591,4:88535140:T>C,88535140,NM_014208.3,NM_014208.3:c.1326T>C,NP_055023.2:p.Gly442=,442,5/5,\N,Benign,\N,synonymous_variant,LOW,\N,\N,0.275,0.0446,1KG_EAS_AF,DSPP
624592,4:88535144:G>A,88535144,NM_014208.3,NM_014208.3:c.1330G>A,NP_055023.2:p.Asp444Asn,444,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,22.9,0.0000149853,EXAC_NFE_AF,DSPP
624593,4:88535145:A>T,88535145,NM_014208.3,NM_014208.3:c.1331A>T,NP_055023.2:p.Asp444Val,444,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,20.3,0.000181708,EXAC_SAS_AF,DSPP
624594,4:88535146:C>T,88535146,NM_014208.3,NM_014208.3:c.1332C>T,NP_055023.2:p.Asp444=,444,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,11.33,0.0000149849,EXAC_NFE_AF,DSPP
624595,4:88535150:A>G,88535150,NM_014208.3,NM_014208.3:c.1336A>G,NP_055023.2:p.Asn446Asp,446,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,19.68,0.000251256,EVS_AA_AF,DSPP
624596,4:88535151:A>G,88535151,NM_014208.3,NM_014208.3:c.1337A>G,NP_055023.2:p.Asn446Ser,446,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,4.375,0.0000863856,EXAC_AMR_AF,DSPP
624597,4:88535152:T>C,88535152,NM_014208.3,NM_014208.3:c.1338T>C,NP_055023.2:p.Asn446=,446,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,2.151,0.00150527,EVS_AA_AF,DSPP
624598,4:88535155:T>C,88535155,NM_014208.3,NM_014208.3:c.1341T>C,NP_055023.2:p.Ser447=,447,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,5.515,0.00209108,EXAC_EAS_AF,DSPP
624599,4:88535156:G>A,88535156,NM_014208.3,NM_014208.3:c.1342G>A,NP_055023.2:p.Asp448Asn,448,5/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,23.3,0.00150987,EXAC_EAS_AF,DSPP
624600,4:88535156:G>C,88535156,NM_014208.3,NM_014208.3:c.1342G>C,NP_055023.2:p.Asp448His,448,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,22.3,0.0000149844,EXAC_NFE_AF,DSPP
624601,4:88535163:A>G,88535163,NM_014208.3,NM_014208.3:c.1349A>G,NP_055023.2:p.Tyr450Cys,450,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,18.87,0.0000599359,EXAC_NFE_AF,DSPP
624602,4:88535165:G>T,88535165,NM_014208.3,NM_014208.3:c.1351G>T,NP_055023.2:p.Asp451Tyr,451,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,23.1,0.000121139,EXAC_SAS_AF,DSPP
624603,4:88535168:A>G,88535168,NM_014208.3,NM_014208.3:c.1354A>G,NP_055023.2:p.Ser452Gly,452,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,21.8,\N,\N,DSPP
624604,4:88535169:G>A,88535169,NM_014208.3,NM_014208.3:c.1355G>A,NP_055023.2:p.Ser452Asn,452,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,23.5,0.000060562,EXAC_SAS_AF,DSPP
624605,4:88535180:G>T,88535180,NM_014208.3,NM_014208.3:c.1366G>T,NP_055023.2:p.Asp456Tyr,456,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,23.2,\N,\N,DSPP
624606,4:88535188:G>T,88535188,NM_014208.3,NM_014208.3:c.1374G>T,NP_055023.2:p.Lys458Asn,458,5/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,13.23,0.0000863856,EXAC_AMR_AF,DSPP
624607,4:88535190:C>T,88535190,NM_014208.3,NM_014208.3:c.1376C>T,NP_055023.2:p.Ser459Phe,459,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,23.5,0.000101978,EXAC_AFR_AF,DSPP
624608,4:88535192:A>T,88535192,NM_014208.3,NM_014208.3:c.1378A>T,NP_055023.2:p.Met460Leu,460,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,22.4,0.001,1KG_EAS_AF,DSPP
624609,4:88535200:A>C,88535200,NM_014208.3,NM_014208.3:c.1386A>C,NP_055023.2:p.Gly462=,462,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,0.588,0.000014984,EXAC_NFE_AF,DSPP
624610,4:88535206:T>A,88535206,NM_014208.3,NM_014208.3:c.1392T>A,NP_055023.2:p.Asp464Glu,464,5/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,15.41,0.000014984,EXAC_NFE_AF,DSPP
624611,4:88535212:T>C,88535212,NM_014208.3,NM_014208.3:c.1398T>C,NP_055023.2:p.Asn466=,466,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,0.143,0.000014984,EXAC_NFE_AF,DSPP
624612,4:88535214:G>A,88535214,NM_014208.3,NM_014208.3:c.1400G>A,NP_055023.2:p.Ser467Asn,467,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,22.7,0.00109025,EXAC_SAS_AF,DSPP
624613,4:88535224:A>G,88535224,NM_014208.3,NM_014208.3:c.1410A>G,NP_055023.2:p.Glu470=,470,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,0.724,0.0008,1KG_AFR_AF,DSPP
624614,4:88535240:G>T,88535240,NM_014208.3,NM_014208.3:c.1426G>T,NP_055023.2:p.Asp476Tyr,476,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,23,0.0000149835,EXAC_NFE_AF,DSPP
624615,4:88535242:T>C,88535242,NM_014208.3,NM_014208.3:c.1428T>C,NP_055023.2:p.Asp476=,476,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,1.652,0.001,1KG_EAS_AF,DSPP
624616,4:88535243:G>T,88535243,NM_014208.3,NM_014208.3:c.1429G>T,NP_055023.2:p.Ala477Ser,477,5/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,20.3,0.0000149835,EXAC_NFE_AF,DSPP
624617,4:88535244:C>T,88535244,NM_014208.3,NM_014208.3:c.1430C>T,NP_055023.2:p.Ala477Val,477,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,22,0.0000599341,EXAC_NFE_AF,DSPP
624618,4:88535265:A>G,88535265,NM_014208.3,NM_014208.3:c.1451A>G,NP_055023.2:p.Asn484Ser,484,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,9.743,0.0000864006,EXAC_AMR_AF,DSPP
624619,4:88535266:C>T,88535266,NM_014208.3,NM_014208.3:c.1452C>T,NP_055023.2:p.Asn484=,484,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,6.959,0.000060562,EXAC_SAS_AF,DSPP
624620,4:88535276:C>T,88535276,NM_014208.3,NM_014208.3:c.1462C>T,NP_055023.2:p.Arg488Ter,488,5/5,\N,Unknown significance,\N,stop_gained,HIGH,\N,\N,35,0.0000149849,EXAC_NFE_AF,DSPP
624621,4:88535277:G>A,88535277,NM_014208.3,NM_014208.3:c.1463G>A,NP_055023.2:p.Arg488Gln,488,5/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,0.459,0.001,1KG_EUR_AF,DSPP
624622,4:88535281:A>G,88535281,NM_014208.3,NM_014208.3:c.1467A>G,NP_055023.2:p.Gly489=,489,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,0.675,0.000060562,EXAC_SAS_AF,DSPP
624623,4:88535283:A>T,88535283,NM_014208.3,NM_014208.3:c.1469A>T,NP_055023.2:p.Asp490Val,490,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,17.72,0.0008,1KG_AFR_AF,DSPP
624624,4:88535287:T>A,88535287,NM_014208.3,NM_014208.3:c.1473T>A,NP_055023.2:p.Ala491=,491,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,5.657,\N,\N,DSPP
624625,4:88535297:T>C,88535297,NM_014208.3,NM_014208.3:c.1483T>C,NP_055023.2:p.Ser495Pro,495,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,22.7,0.0000149867,EXAC_NFE_AF,DSPP
624626,4:88535304:A>C,88535304,NM_014208.3,NM_014208.3:c.1490A>C,NP_055023.2:p.Glu497Ala,497,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,23.4,0.0015,1KG_AFR_AF,DSPP
624627,4:88535308:A>T,88535308,NM_014208.3,NM_014208.3:c.1494A>T,NP_055023.2:p.Ser498=,498,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,1.573,0.00111111,EXAC_OTH_AF,DSPP
624628,4:88535309:A>C,88535309,NM_014208.3,NM_014208.3:c.1495A>C,NP_055023.2:p.Lys499Gln,499,5/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,4.262,0.000014988,EXAC_NFE_AF,DSPP
624629,4:88535314:T>A,88535314,NM_014208.3,NM_014208.3:c.1500T>A,NP_055023.2:p.Asp500Glu,500,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,23,0.0000149889,EXAC_NFE_AF,DSPP
624630,4:88535317:T>G,88535317,NM_014208.3,NM_014208.3:c.1503T>G,NP_055023.2:p.Asn501Lys,501,5/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,19.35,0.00111111,EXAC_OTH_AF,DSPP
624631,4:88535336:A>C,88535336,NM_014208.3,NM_014208.3:c.1522A>C,NP_055023.2:p.Lys508Gln,508,5/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,0.007,0.0000299814,EXAC_NFE_AF,DSPP
624632,4:88535336:A>G,88535336,NM_014208.3,NM_014208.3:c.1522A>G,NP_055023.2:p.Lys508Glu,508,5/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,9.593,0.0000149907,EXAC_NFE_AF,DSPP
624633,4:88535339:G>T,88535339,NM_014208.3,NM_014208.3:c.1525G>T,NP_055023.2:p.Gly509Ter,509,5/5,\N,Unknown significance,\N,stop_gained,HIGH,\N,\N,35,0.000181708,EXAC_SAS_AF,DSPP
624634,4:88535344:A>G,88535344,NM_014208.3,NM_014208.3:c.1530A>G,NP_055023.2:p.Ala510=,510,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,1.729,0.000014993,EXAC_NFE_AF,DSPP
624635,4:88535351:G>T,88535351,NM_014208.3,NM_014208.3:c.1537G>T,NP_055023.2:p.Asp513Tyr,513,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,22.7,0.000232342,EXAC_EAS_AF,DSPP
624636,4:88535352:A>T,88535352,NM_014208.3,NM_014208.3:c.1538A>T,NP_055023.2:p.Asp513Val,513,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,18.91,0.0000605987,EXAC_SAS_AF,DSPP
624637,4:88535358:G>A,88535358,NM_014208.3,NM_014208.3:c.1544G>A,NP_055023.2:p.Ser515Asn,515,5/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,10.94,0.000118511,EVS_EA_AF,DSPP
624638,4:88535362:T>A,88535362,NM_014208.3,NM_014208.3:c.1548T>A,NP_055023.2:p.Asp516Glu,516,5/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,11.98,0.0000605987,EXAC_SAS_AF,DSPP
624639,4:88535367:C>T,88535367,NM_014208.3,NM_014208.3:c.1553C>T,NP_055023.2:p.Thr518Ile,518,5/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,10.48,0.0000150015,EXAC_NFE_AF,DSPP
624640,4:88535373:A>G,88535373,NM_014208.3,NM_014208.3:c.1559A>G,NP_055023.2:p.Asp520Gly,520,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,12.86,0.000305935,EXAC_AFR_AF,DSPP
624641,4:88535375:A>G,88535375,NM_014208.3,NM_014208.3:c.1561A>G,NP_055023.2:p.Thr521Ala,521,5/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,0.004,0.000345722,EXAC_AMR_AF,DSPP
624642,4:88535376:C>A,88535376,NM_014208.3,NM_014208.3:c.1562C>A,NP_055023.2:p.Thr521Asn,521,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,7.361,0.0000606208,EXAC_SAS_AF,DSPP
624643,4:88535378:A>G,88535378,NM_014208.3,NM_014208.3:c.1564A>G,NP_055023.2:p.Asn522Asp,522,5/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,3.636,0.0000150159,EXAC_NFE_AF,DSPP
624644,4:88535383:T>C,88535383,NM_014208.3,NM_014208.3:c.1569T>C,NP_055023.2:p.Asn523=,523,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,1.6,0.0000606281,EXAC_SAS_AF,DSPP
624645,4:88535389:C>T,88535389,NM_014208.3,NM_014208.3:c.1575C>T,NP_055023.2:p.Asp525=,525,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,10.91,0.000237417,EVS_AA_AF,DSPP
624646,4:88535391:G>A,88535391,NM_014208.3,NM_014208.3:c.1577G>A,NP_055023.2:p.Ser526Asn,526,5/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,14.63,0.003,1KG_EAS_AF,DSPP
624647,4:88535393:A>C,88535393,NM_014208.3,NM_014208.3:c.1579A>C,NP_055023.2:p.Asn527His,527,5/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,9.224,0.0000607165,EXAC_SAS_AF,DSPP
624648,4:88535402:G>A,88535402,NM_014208.3,NM_014208.3:c.1588G>A,NP_055023.2:p.Gly530Ser,530,5/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,21.1,0.0000150811,EXAC_NFE_AF,DSPP
624649,4:88535419:T>A,88535419,NM_014208.3,NM_014208.3:c.1605T>A,NP_055023.2:p.Asp535Glu,535,5/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,4.206,0.000117123,EXAC_EAS_AF,DSPP
624650,4:88535422:C>T,88535422,NM_014208.3,NM_014208.3:c.1608C>T,NP_055023.2:p.Asp536=,536,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,7.415,0.000045626,EXAC_NFE_AF,DSPP
624651,4:88535435:G>A,88535435,NM_014208.3,NM_014208.3:c.1621G>A,NP_055023.2:p.Asp541Asn,541,5/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,10.34,\N,\N,DSPP
624652,4:88535437:C>T,88535437,NM_014208.3,NM_014208.3:c.1623C>T,NP_055023.2:p.Asp541=,541,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,1.727,0.000104037,EXAC_AFR_AF,DSPP
624653,4:88535442:G>A,88535442,NM_014208.3,NM_014208.3:c.1628G>A,NP_055023.2:p.Gly543Asp,543,5/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,1.06,0.0000155584,EXAC_NFE_AF,DSPP
624654,4:88535449:T>A,88535449,NM_014208.3,NM_014208.3:c.1635T>A,NP_055023.2:p.Gly545=,545,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,0.773,\N,\N,DSPP
624655,4:88535457:A>G,88535457,NM_014208.3,NM_014208.3:c.1643A>G,NP_055023.2:p.Asp548Gly,548,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,8.802,\N,\N,DSPP
624656,4:88535458:T>C,88535458,NM_014208.3,NM_014208.3:c.1644T>C,NP_055023.2:p.Asp548=,548,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,0.047,0.000130382,EXAC_NFE_AF,DSPP
624657,4:88535472:A>G,88535472,NM_014208.3,NM_014208.3:c.1658A>G,NP_055023.2:p.Asp553Gly,553,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,0.435,\N,\N,DSPP
624658,4:88535473:T>C,88535473,NM_014208.3,NM_014208.3:c.1659T>C,NP_055023.2:p.Asp553=,553,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,0.034,0.000449102,EXAC_EAS_AF,DSPP
624659,4:88535476:T>C,88535476,NM_014208.3,NM_014208.3:c.1662T>C,NP_055023.2:p.Ser554=,554,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,0.067,0.0000179128,EXAC_NFE_AF,DSPP
624660,4:88535485:C>A,88535485,NM_014208.3,NM_014208.3:c.1671C>A,NP_055023.2:p.Ser557Arg,557,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,2.524,0.000176616,EXAC_EAS_AF,DSPP
624661,4:88535488:C>T,88535488,NM_014208.3,NM_014208.3:c.1674C>T,NP_055023.2:p.Ser558=,558,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,6.903,0.0000767813,EXAC_SAS_AF,DSPP
624662,4:88535499:ATAG>A,88535499,NM_014208.3,NM_014208.3:c.1690_1692del,NP_055023.2:p.Ser564del,562-563,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,11.65,0.0000223394,EXAC_NFE_AF,DSPP
624663,4:88535499:AT>A,88535499,NM_014208.3,NM_014208.3:c.1686del,NP_055023.2:p.Asp562GlufsTer752,562,5/5,\N,Pathogenic,Dentin dysplasia type II,frameshift_variant,HIGH,\N,\N,11.28,\N,\N,DSPP
624664,4:88535500:T>C,88535500,NM_014208.3,NM_014208.3:c.1686T>C,NP_055023.2:p.Asp562=,562,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,0.018,0.000434594,EXAC_FIN_AF,DSPP
624665,4:88535502:GTAGTGACAGCAGTGACAGTGACAGCAGTGATAGCAACAGTAGCAGTGA>G,88535502,NM_014208.3,NM_014208.3:c.1724_1771del,NP_055023.2:p.Asn575_Ser590del,563-579,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,12.21,\N,\N,DSPP
624666,4:88535503:TAGTGACAGCAGTGAC>T,88535503,NM_014208.3,NM_014208.3:c.1704_1718del,NP_055023.2:p.Asp570_Ser574del,564-568,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,13.5,\N,\N,DSPP
624667,4:88535514:G>A,88535514,NM_014208.3,NM_014208.3:c.1700G>A,NP_055023.2:p.Ser567Asn,567,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,8.751,0.0000285225,EXAC_NFE_AF,DSPP
624668,4:88535516:G>C,88535516,NM_014208.3,NM_014208.3:c.1702G>C,NP_055023.2:p.Asp568His,568,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,13.28,0.00002865,EXAC_NFE_AF,DSPP
624669,4:88535523:A>G,88535523,NM_014208.3,NM_014208.3:c.1709A>G,NP_055023.2:p.Asp570Gly,570,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,0.022,0.000116741,EVS_EA_AF,DSPP
624670,4:88535533:T>TAGC,88535533,NM_014208.3,NM_014208.3:c.1721_1723dup,NP_055023.2:p.Ser574dup,573-574,5/5,\N,Unknown significance,\N,inframe_insertion,MODERATE,\N,\N,\N,\N,\N,DSPP
624671,4:88535535:G>A,88535535,NM_014208.3,NM_014208.3:c.1721G>A,NP_055023.2:p.Ser574Asn,574,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,0.02,0.000412882,EXAC_AMR_AF,DSPP
624672,4:88535551:T>C,88535551,NM_014208.3,NM_014208.3:c.1737T>C,NP_055023.2:p.Asp579=,579,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,0.036,0.000117178,EVS_EA_AF,DSPP
624673,4:88535551:TAGTGACAGCAGTGAC>T,88535551,NM_014208.3,NM_014208.3:c.1752_1766del,NP_055023.2:p.Asp586_Ser590del,580-584,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,11.95,0.0003003,EXAC_AFR_AF,DSPP
624674,4:88535573:A>G,88535573,NM_014208.3,NM_014208.3:c.1759A>G,NP_055023.2:p.Ser587Gly,587,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,7.563,0.000377929,EXAC_AFR_AF,DSPP
624675,4:88535581:TAGC>T,88535581,NM_014208.3,NM_014208.3:c.1770_1772del,NP_055023.2:p.Ser591del,590,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,13.64,\N,\N,DSPP
624676,4:88535592:G>C,88535592,NM_014208.3,NM_014208.3:c.1778G>C,NP_055023.2:p.Ser593Thr,593,5/5,\N,Benign,\N,missense_variant,MODERATE,\N,\N,10.46,0.00875099,EXAC_AFR_AF,DSPP
624677,4:88535593:T>G,88535593,NM_014208.3,NM_014208.3:c.1779T>G,NP_055023.2:p.Ser593Arg,593,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,10.55,0.0008,1KG_AFR_AF,DSPP
624678,4:88535605:T>C,88535605,NM_014208.3,NM_014208.3:c.1791T>C,NP_055023.2:p.Asp597=,597,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,0.016,0.00165017,EXAC_AFR_AF,DSPP
624679,4:88535605:TAGC>T,88535605,NM_014208.3,NM_014208.3:c.1796_1798del,NP_055023.2:p.Ser599del,598,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,14.44,0.000139743,EXAC_SAS_AF,DSPP
624680,4:88535616:G>T,88535616,NM_014208.3,NM_014208.3:c.1802G>T,NP_055023.2:p.Ser601Ile,601,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,9.808,0.00289017,EXAC_EAS_AF,DSPP
624681,4:88535617:CAGTGACAGT>C,88535617,NM_014208.3,NM_014208.3:c.1812_1820del,NP_055023.2:p.Ser620_Ser622del,602-604,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,13.07,\N,\N,DSPP
624682,4:88535626:T>C,88535626,NM_014208.3,NM_014208.3:c.1812T>C,NP_055023.2:p.Ser604=,604,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,0.794,0.001,1KG_EUR_AF,DSPP
624683,4:88535637:G>T,88535637,NM_014208.3,NM_014208.3:c.1823G>T,NP_055023.2:p.Ser608Ile,608,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,11.47,\N,\N,DSPP
624684,4:88535643:GC>G,88535643,NM_014208.3,NM_014208.3:c.1830del,NP_055023.2:p.Ser610ArgfsTer704,610,5/5,\N,Pathogenic,Dentin dysplasia type II,frameshift_variant,HIGH,\N,\N,25.7,\N,\N,DSPP
624685,4:88535647:T>A,88535647,NM_014208.3,NM_014208.3:c.1833T>A,NP_055023.2:p.Ser611Arg,611,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,12.83,0.000108932,EXAC_NFE_AF,DSPP
624686,4:88535651:A>T,88535651,NM_014208.3,NM_014208.3:c.1837A>T,NP_055023.2:p.Ser613Cys,613,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,7.553,0.000105485,EXAC_NFE_AF,DSPP
624687,4:88535659:T>C,88535659,NM_014208.3,NM_014208.3:c.1845T>C,NP_055023.2:p.Asp615=,615,5/5,\N,Benign,\N,synonymous_variant,LOW,\N,\N,0.026,0.005,EXAC_OTH_AF,DSPP
624688,4:88535661:G>A,88535661,NM_014208.3,NM_014208.3:c.1847G>A,NP_055023.2:p.Ser616Asn,616,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,9.152,0.000849618,EXAC_AFR_AF,DSPP
624689,4:88535681:AAGTC>A,88535681,NM_014208.3,NM_014208.3:c.1870_1873del,NP_055023.2:p.Ser624ThrfsTer689,623-624,5/5,\N,Pathogenic,Dentin dysplasia type II,frameshift_variant,HIGH,\N,\N,22.4,\N,\N,DSPP
624690,4:88535684:TCAGA>T,88535684,NM_014208.3,NM_014208.3:c.1874_1877del,NP_055023.2:p.Asp625AlafsTer688,624-625,5/5,\N,Unknown significance,\N,frameshift_variant,HIGH,\N,\N,23.1,\N,\N,DSPP
624691,4:88535707:C>T,88535707,NM_014208.3,NM_014208.3:c.1893C>T,NP_055023.2:p.Ser631=,631,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,11.71,0.0015224,EXAC_NFE_AF,DSPP
624692,4:88535708:G>A,88535708,NM_014208.3,NM_014208.3:c.1894G>A,NP_055023.2:p.Asp632Asn,632,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,9.852,\N,\N,DSPP
624693,4:88535714:A>G,88535714,NM_014208.3,NM_014208.3:c.1900A>G,NP_055023.2:p.Ser634Gly,634,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,11.09,0.00233645,EXAC_AMR_AF,DSPP
624694,4:88535719:T>C,88535719,NM_014208.3,NM_014208.3:c.1905T>C,NP_055023.2:p.Asp635=,635,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,0.134,0.001,1KG_EUR_AF,DSPP
624695,4:88535725:C>G,88535725,NM_014208.3,NM_014208.3:c.1911C>G,NP_055023.2:p.Asp637Glu,637,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,4.521,\N,\N,DSPP
624696,4:88535729:AAGTC>A,88535729,NM_014208.3,NM_014208.3:c.1918_1921del,NP_055023.2:p.Ser640ThrfsTer673,639-640,5/5,\N,Pathogenic,Dentin dysplasia type II,frameshift_variant,HIGH,\N,\N,17.56,\N,\N,DSPP
624697,4:88535732:TCAGA>T,88535732,NM_014208.3,NM_014208.3:c.1922_1925del,NP_055023.2:p.Asp641AlafsTer672,640-641,5/5,\N,Pathogenic,Dentin dysplasia type II,frameshift_variant,HIGH,\N,\N,23.9,\N,\N,DSPP
624698,4:88535745:A>ACAG,88535745,NM_014208.3,NM_014208.3:c.1934_1936dup,NP_055023.2:p.Ser645dup,644,5/5,\N,Unknown significance,\N,inframe_insertion,MODERATE,\N,\N,\N,\N,\N,DSPP
624699,4:88535752:C>G,88535752,NM_014208.3,NM_014208.3:c.1938C>G,NP_055023.2:p.Asn646Lys,646,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,13.26,\N,\N,DSPP
624700,4:88535763:GTAGTGACAA>G,88535763,NM_014208.3,NM_014208.3:c.1950_1958del,NP_055023.2:p.Asn653_Asp655del,650-653,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,\N,\N,\N,DSPP
624701,4:88535765:AGT>A,88535765,NM_014208.3,NM_014208.3:c.1953_1954del,NP_055023.2:p.Ser651ArgfsTer4,651,5/5,\N,Unknown significance,\N,frameshift_variant,HIGH,\N,\N,26.6,\N,\N,DSPP
624702,4:88535766:G>GATTCA,88535766,NM_014208.3,NM_014208.3:c.1952_1953insATTCA,NP_055023.2:p.Ser651ArgfsTer665,651,5/5,\N,Unknown significance,\N,frameshift_variant,HIGH,\N,\N,25.3,\N,\N,DSPP
624703,4:88535766:G>GATTCATCACTGCTAT,88535766,NM_014208.3,NM_014208.3:c.1952_1953insATTCATCACTGCTAT,NP_055023.2:p.Ser651delinsArgPheIleThrAlaIle,651,5/5,\N,Unknown significance,\N,protein_altering_variant,MODERATE,\N,\N,3.915,\N,\N,DSPP
624704,4:88535766:G>GGT,88535766,NM_014208.3,NM_014208.3:c.1952_1953insGT,NP_055023.2:p.Ser651ArgfsTer664,651,5/5,\N,Unknown significance,\N,frameshift_variant,HIGH,\N,\N,\N,\N,\N,DSPP
624705,4:88535769:A>ATT,88535769,NM_014208.3,NM_014208.3:c.1955_1956insTT,NP_055023.2:p.Asn653SerfsTer662,652,5/5,\N,Unknown significance,\N,frameshift_variant,HIGH,\N,\N,25.6,\N,\N,DSPP
624706,4:88535772:A>T,88535772,NM_014208.3,NM_014208.3:c.1958A>T,NP_055023.2:p.Asn653Ile,653,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,6.526,\N,\N,DSPP
624707,4:88535775:G>C,88535775,NM_014208.3,NM_014208.3:c.1961G>C,NP_055023.2:p.Ser654Thr,654,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,8.378,\N,\N,DSPP
624708,4:88535777:G>GCTATTGGGATC,88535777,NM_014208.3,NM_014208.3:c.1963_1964insCTATTGGGATC,NP_055023.2:p.Asp655AlafsTer663,655,5/5,\N,Unknown significance,\N,frameshift_variant,HIGH,\N,\N,25.9,\N,\N,DSPP
624709,4:88535778:A>C,88535778,NM_014208.3,NM_014208.3:c.1964A>C,NP_055023.2:p.Asp655Ala,655,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,9.359,0.000555309,EXAC_NFE_AF,DSPP
624710,4:88535785:C>T,88535785,NM_014208.3,NM_014208.3:c.1971C>T,NP_055023.2:p.Ser657=,657,5/5,\N,Benign,\N,synonymous_variant,LOW,\N,\N,11.31,0.475,EXAC_FIN_AF,DSPP
624711,4:88535786:G>A,88535786,NM_014208.3,NM_014208.3:c.1972G>A,NP_055023.2:p.Asp658Asn,658,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,6.332,0.000440141,EXAC_AFR_AF,DSPP
624712,4:88535804:A>G,88535804,NM_014208.3,NM_014208.3:c.1990A>G,NP_055023.2:p.Asn664Asp,664,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,11.94,\N,\N,DSPP
624713,4:88535804:AACAGCAGTGATAGTAGTG>A,88535804,NM_014208.3,NM_014208.3:c.2004_2021del,NP_055023.2:p.Asp673_Ser678del,664-670,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,12.66,\N,\N,DSPP
624714,4:88535811:G>A,88535811,NM_014208.3,NM_014208.3:c.1997G>A,NP_055023.2:p.Ser666Asn,666,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,8.22,0.000290023,EVS_AA_AF,DSPP
624715,4:88535814:ATAG>A,88535814,NM_014208.3,NM_014208.3:c.2005_2007del,NP_055023.2:p.Ser669del,667-668,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,12.66,\N,\N,DSPP
624716,4:88535818:T>C,88535818,NM_014208.3,NM_014208.3:c.2004T>C,NP_055023.2:p.Ser668=,668,5/5,\N,Benign,\N,synonymous_variant,LOW,\N,\N,0.077,0.010608,EVS_EA_AF,DSPP
624717,4:88535818:T>TGACAGC,88535818,NM_014208.3,NM_014208.3:c.2004_2005insGACAGC,NP_055023.2:p.Asp667_Ser668dup,668-669,5/5,\N,Unknown significance,\N,inframe_insertion,MODERATE,\N,\N,6.993,\N,\N,DSPP
624718,4:88535823:A>G,88535823,NM_014208.3,NM_014208.3:c.2009A>G,NP_055023.2:p.Asp670Gly,670,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,12.89,0.00243902,EXAC_AMR_AF,DSPP
624719,4:88535824:C>T,88535824,NM_014208.3,NM_014208.3:c.2010C>T,NP_055023.2:p.Asp670=,670,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,7.96,\N,\N,DSPP
624720,4:88535826:G>A,88535826,NM_014208.3,NM_014208.3:c.2012G>A,NP_055023.2:p.Ser671Asn,671,5/5,\N,Benign,\N,missense_variant,MODERATE,\N,\N,9.604,0.0129,1KG_EUR_AF,DSPP
624721,4:88535829:GTGA>G,88535829,NM_014208.3,NM_014208.3:c.2017_2019del,NP_055023.2:p.Asp673del,672-673,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,9.755,\N,\N,DSPP
624722,4:88535830:T>C,88535830,NM_014208.3,NM_014208.3:c.2016T>C,NP_055023.2:p.Ser672=,672,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,0.332,\N,\N,DSPP
624723,4:88535831:G>A,88535831,NM_014208.3,NM_014208.3:c.2017G>A,NP_055023.2:p.Asp673Asn,673,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,13.25,\N,\N,DSPP
624724,4:88535832:A>ACAGCAGCAG,88535832,NM_014208.3,NM_014208.3:c.2018_2019insCAGCAGCAG,NP_055023.2:p.Ser675_Asp676insSerSerSer,673,5/5,\N,Unknown significance,\N,inframe_insertion,MODERATE,\N,\N,0.168,\N,\N,DSPP
624725,4:88535832:A>ATAGCAGTGACAGCAGCAG,88535832,NM_014208.3,NM_014208.3:c.2036_2053dup,NP_055023.2:p.Ser679_Ser684dup,673,5/5,\N,Unknown significance,\N,inframe_insertion,MODERATE,\N,\N,0.075,\N,\N,DSPP
624726,4:88535832:A>G,88535832,NM_014208.3,NM_014208.3:c.2018A>G,NP_055023.2:p.Asp673Gly,673,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,9.476,\N,\N,DSPP
624727,4:88535833:TAGC>T,88535833,NM_014208.3,NM_014208.3:c.2022_2024del,NP_055023.2:p.Ser675del,674,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,12.99,\N,\N,DSPP
624728,4:88535842:CAGCAGCAGT>C,88535842,NM_014208.3,NM_014208.3:c.2034_2042del,NP_055023.2:p.Ser679_Ser681del,677-679,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,\N,\N,\N,DSPP
624729,4:88535843:A>ACT,88535843,NM_014208.3,NM_014208.3:c.2029_2030insCT,NP_055023.2:p.Ser677ThrfsTer638,677,5/5,\N,Unknown significance,\N,frameshift_variant,HIGH,\N,\N,24.4,0.000674157,EXAC_NFE_AF,DSPP
624730,4:88535845:CAGCAGT>C,88535845,NM_014208.3,NM_014208.3:c.2038_2043del,NP_055023.2:p.Ser680_Ser681del,678-679,5/5,\N,Benign,\N,inframe_deletion,MODERATE,\N,\N,6.452,0.0356,1KG_AFR_AF,DSPP
624731,4:88535846:A>T,88535846,NM_014208.3,NM_014208.3:c.2032A>T,NP_055023.2:p.Ser678Cys,678,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,0.313,\N,\N,DSPP
624732,4:88535848:C>T,88535848,NM_014208.3,NM_014208.3:c.2034C>T,NP_055023.2:p.Ser678=,678,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,4.253,\N,\N,DSPP
624733,4:88535851:TAGCAGTGAC>T,88535851,NM_014208.3,NM_014208.3:c.2043_2051del,NP_055023.2:p.Asp682_Ser684del,680-682,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,9.849,\N,\N,DSPP
624734,4:88535853:GC>G,88535853,NM_014208.3,NM_014208.3:c.2040del,NP_055023.2:p.Ser680ArgfsTer634,680,5/5,\N,Pathogenic,Dentin dysplasia type II,frameshift_variant,HIGH,\N,\N,16.36,\N,\N,DSPP
624735,4:88535866:CAACAGCAGTGAT>C,88535866,NM_014208.3,NM_014208.3:c.2054_2065del,NP_055023.2:p.Asn685_Asp688del,685-688,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,10.56,\N,\N,DSPP
624736,4:88535868:A>G,88535868,NM_014208.3,NM_014208.3:c.2054A>G,NP_055023.2:p.Asn685Ser,685,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,0.215,\N,\N,DSPP
624737,4:88535869:C>T,88535869,NM_014208.3,NM_014208.3:c.2055C>T,NP_055023.2:p.Asn685=,685,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,1.958,\N,\N,DSPP
624738,4:88535876:GA>G,88535876,NM_014208.3,NM_014208.3:c.2063del,NP_055023.2:p.Asp688ValfsTer626,688,5/5,\N,Pathogenic,Dentin dysplasia type II,frameshift_variant,HIGH,\N,\N,22.8,\N,\N,DSPP
624739,4:88535877:ATAG>A,88535877,NM_014208.3,NM_014208.3:c.2068_2070del,NP_055023.2:p.Ser690del,688-689,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,9.225,0.00322581,EXAC_EAS_AF,DSPP
624740,4:88535878:T>C,88535878,NM_014208.3,NM_014208.3:c.2064T>C,NP_055023.2:p.Asp688=,688,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,0.06,\N,\N,DSPP
624741,4:88535881:T>C,88535881,NM_014208.3,NM_014208.3:c.2067T>C,NP_055023.2:p.Ser689=,689,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,0.382,\N,\N,DSPP
624742,4:88535883:GTGA>G,88535883,NM_014208.3,NM_014208.3:c.2070_2072del,NP_055023.2:p.Asp691del,690-691,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,0.605,\N,\N,DSPP
624743,4:88535887:CAGT>C,88535887,NM_014208.3,NM_014208.3:c.2077_2079del,NP_055023.2:p.Ser693del,692,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,10.84,\N,\N,DSPP
624744,4:88535899:C>A,88535899,NM_014208.3,NM_014208.3:c.2085C>A,NP_055023.2:p.Ser695Arg,695,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,11.44,0.000297442,EVS_AA_AF,DSPP
624745,4:88535903:A>G,88535903,NM_014208.3,NM_014208.3:c.2089A>G,NP_055023.2:p.Asn697Asp,697,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,0.124,0.00012639,EXAC_SAS_AF,DSPP
624746,4:88535905:T>C,88535905,NM_014208.3,NM_014208.3:c.2091T>C,NP_055023.2:p.Asn697=,697,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,0.152,0.000126422,EXAC_SAS_AF,DSPP
624747,4:88535914:GAGCAGTGATAGTAGTGACAGCAGTGATAGTGAC>G,88535914,NM_014208.3,NM_014208.3:c.2125_2157del,NP_055023.2:p.Asp709_Ser719del,701-711,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,9.746,\N,\N,DSPP
624748,4:88535922:ATAG>A,88535922,NM_014208.3,NM_014208.3:c.2113_2115del,NP_055023.2:p.Ser705del,703-704,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,10.64,\N,\N,DSPP
624749,4:88535929:T>C,88535929,NM_014208.3,NM_014208.3:c.2115T>C,NP_055023.2:p.Ser705=,705,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,0.369,0.00016415,EVS_EA_AF,DSPP
624750,4:88535937:G>A,88535937,NM_014208.3,NM_014208.3:c.2123G>A,NP_055023.2:p.Ser708Asn,708,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,0.712,0.000126358,EXAC_SAS_AF,DSPP
624751,4:88535939:G>C,88535939,NM_014208.3,NM_014208.3:c.2125G>C,NP_055023.2:p.Asp709His,709,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,1.567,0.00012639,EXAC_SAS_AF,DSPP
624752,4:88535955:ATAG>A,88535955,NM_014208.3,NM_014208.3:c.2146_2148del,NP_055023.2:p.Ser716del,714-715,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,11.65,\N,\N,DSPP
624753,4:88535972:A>G,88535972,NM_014208.3,NM_014208.3:c.2158A>G,NP_055023.2:p.Asn720Asp,720,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,0.119,0.000126358,EXAC_SAS_AF,DSPP
624754,4:88535977:T>G,88535977,NM_014208.3,NM_014208.3:c.2163T>G,NP_055023.2:p.Ser721Arg,721,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,4.227,\N,\N,DSPP
624755,4:88535978:A>AGTG,88535978,NM_014208.3,NM_014208.3:c.2164_2165insGTG,NP_055023.2:p.Asn722delinsSerAsp,722,5/5,\N,Unknown significance,\N,protein_altering_variant,MODERATE,\N,\N,0.215,\N,\N,DSPP
624756,4:88535986:C>A,88535986,NM_014208.3,NM_014208.3:c.2172C>A,NP_055023.2:p.Ser724Arg,724,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,10.15,\N,\N,DSPP
624757,4:88535986:C>T,88535986,NM_014208.3,NM_014208.3:c.2172C>T,NP_055023.2:p.Ser724=,724,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,12.36,0.0008,1KG_AFR_AF,DSPP
624758,4:88535995:C>T,88535995,NM_014208.3,NM_014208.3:c.2181C>T,NP_055023.2:p.Asp727=,727,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,3.092,0.001,1KG_EUR_AF,DSPP
624759,4:88535997:G>T,88535997,NM_014208.3,NM_014208.3:c.2183G>T,NP_055023.2:p.Ser728Ile,728,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,9.832,\N,\N,DSPP
624760,4:88536013:TAGC>T,88536013,NM_014208.3,NM_014208.3:c.2202_2204del,NP_055023.2:p.Ser735del,734,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,\N,\N,\N,DSPP
624761,4:88536013:TAGCAGTGACAGCAGCAAC>T,88536013,NM_014208.3,NM_014208.3:c.2214_2231del,NP_055023.2:p.Asn739_Ser744del,734-739,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,11.07,\N,\N,DSPP
624762,4:88536017:A>T,88536017,NM_014208.3,NM_014208.3:c.2203A>T,NP_055023.2:p.Ser735Cys,735,5/5,\N,Benign,\N,missense_variant,MODERATE,\N,\N,3.485,0.00549451,EXAC_OTH_AF,DSPP
624763,4:88536019:T>C,88536019,NM_014208.3,NM_014208.3:c.2205T>C,NP_055023.2:p.Ser735=,735,5/5,\N,Benign,\N,synonymous_variant,LOW,\N,\N,0.303,0.007,1KG_EUR_AF,DSPP
624764,4:88536020:GACAGCAGCA>G,88536020,NM_014208.3,NM_014208.3:c.2214_2222del,NP_055023.2:p.Asn739_Ser741del,736-739,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,\N,\N,\N,DSPP
624765,4:88536021:ACAG>A,88536021,NM_014208.3,NM_014208.3:c.2213_2215del,NP_055023.2:p.Ser738del,736-737,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,11.16,0.000461681,EXAC_AFR_AF,DSPP
624766,4:88536029:A>G,88536029,NM_014208.3,NM_014208.3:c.2215A>G,NP_055023.2:p.Asn739Asp,739,5/5,\N,Benign,\N,missense_variant,MODERATE,\N,\N,0.058,0.013297,EVS_EA_AF,DSPP
624767,4:88536031:C>T,88536031,NM_014208.3,NM_014208.3:c.2217C>T,NP_055023.2:p.Asn739=,739,5/5,\N,Benign,\N,synonymous_variant,LOW,\N,\N,5.778,0.0296726,EVS_EA_AF,DSPP
624768,4:88536038:G>C,88536038,NM_014208.3,NM_014208.3:c.2224G>C,NP_055023.2:p.Asp742His,742,5/5,\N,Benign,\N,missense_variant,MODERATE,\N,\N,9.707,0.0159,1KG_AMR_AF,DSPP
624769,4:88536050:A>C,88536050,NM_014208.3,NM_014208.3:c.2236A>C,NP_055023.2:p.Ser746Arg,746,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,0.077,0.001,1KG_EUR_AF,DSPP
624770,4:88536082:C>T,88536082,NM_014208.3,NM_014208.3:c.2268C>T,NP_055023.2:p.Ser756=,756,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,10.21,0.00247525,EXAC_AMR_AF,DSPP
624771,4:88536083:G>A,88536083,NM_014208.3,NM_014208.3:c.2269G>A,NP_055023.2:p.Asp757Asn,757,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,10.43,0.000126614,EXAC_SAS_AF,DSPP
624772,4:88536085:TAGCAGTGACAGCAGCAAC>T,88536085,NM_014208.3,NM_014208.3:c.2286_2303del,NP_055023.2:p.Asn763_Ser768del,758-763,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,9.922,\N,\N,DSPP
624773,4:88536085:TA>T,88536085,NM_014208.3,NM_014208.3:c.2272del,NP_055023.2:p.Ser758AlafsTer556,758,5/5,\N,Pathogenic,Dentinogenesis imperfecta type II,frameshift_variant,HIGH,\N,\N,24.2,\N,\N,DSPP
624774,4:88536101:A>G,88536101,NM_014208.3,NM_014208.3:c.2287A>G,NP_055023.2:p.Asn763Asp,763,5/5,\N,Benign,\N,missense_variant,MODERATE,\N,\N,0.137,0.0855,1KG_AFR_AF,DSPP
624775,4:88536103:C>T,88536103,NM_014208.3,NM_014208.3:c.2289C>T,NP_055023.2:p.Asn763=,763,5/5,\N,Benign,\N,synonymous_variant,LOW,\N,\N,6.889,0.087,1KG_AFR_AF,DSPP
624776,4:88536109:T>C,88536109,NM_014208.3,NM_014208.3:c.2295T>C,NP_055023.2:p.Ser765=,765,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,0.38,\N,\N,DSPP
624777,4:88536112:CAGCAGTGAT>C,88536112,NM_014208.3,NM_014208.3:c.2307_2315del,NP_055023.2:p.Asp778_Ser780del,767-769,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,10.05,0.00179372,EXAC_AFR_AF,DSPP
624778,4:88536112:C>A,88536112,NM_014208.3,NM_014208.3:c.2298C>A,NP_055023.2:p.Asp766Glu,766,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,2.335,0.000505689,EXAC_SAS_AF,DSPP
624779,4:88536120:A>G,88536120,NM_014208.3,NM_014208.3:c.2306A>G,NP_055023.2:p.Asp769Gly,769,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,9.114,0.00243902,EXAC_AMR_AF,DSPP
624780,4:88536121:T>C,88536121,NM_014208.3,NM_014208.3:c.2307T>C,NP_055023.2:p.Asp769=,769,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,0.013,0.000303214,EVS_AA_AF,DSPP
624781,4:88536121:TAGC>T,88536121,NM_014208.3,NM_014208.3:c.2310_2312del,NP_055023.2:p.Ser771del,770,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,8.443,0.000112892,EXAC_NFE_AF,DSPP
624782,4:88536121:TAGCAGTGAC>T,88536121,NM_014208.3,NM_014208.3:c.2316_2324del,NP_055023.2:p.Asp778_Ser780del,770-772,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,8.893,0.000452489,EXAC_AFR_AF,DSPP
624783,4:88536138:ATAG>A,88536138,NM_014208.3,NM_014208.3:c.2329_2331del,NP_055023.2:p.Ser777del,775-776,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,9.738,0.000126358,EXAC_SAS_AF,DSPP
624784,4:88536146:GACAGCAGCA>G,88536146,NM_014208.3,NM_014208.3:c.2340_2348del,NP_055023.2:p.Asn781_Ser783del,778-781,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,7.777,\N,\N,DSPP
624785,4:88536151:C>A,88536151,NM_014208.3,NM_014208.3:c.2337C>A,NP_055023.2:p.Ser779Arg,779,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,0.403,\N,\N,DSPP
624786,4:88536162:GT>G,88536162,NM_014208.3,NM_014208.3:c.2349del,NP_055023.2:p.Ser783ArgfsTer531,783,5/5,\N,Pathogenic,Dentinogenesis imperfecta type II,frameshift_variant,HIGH,\N,\N,23,\N,\N,DSPP
624787,4:88536164:G>A,88536164,NM_014208.3,NM_014208.3:c.2350G>A,NP_055023.2:p.Asp784Asn,784,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,0.203,0.001,1KG_EAS_AF,DSPP
624788,4:88536166:T>C,88536166,NM_014208.3,NM_014208.3:c.2352T>C,NP_055023.2:p.Asp784=,784,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,0.009,\N,\N,DSPP
624789,4:88536172:C>T,88536172,NM_014208.3,NM_014208.3:c.2358C>T,NP_055023.2:p.Asn786=,786,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,7.325,0.000897129,EVS_AA_AF,DSPP
624790,4:88536173:G>A,88536173,NM_014208.3,NM_014208.3:c.2359G>A,NP_055023.2:p.Asp787Asn,787,5/5,\N,Benign,\N,missense_variant,MODERATE,\N,\N,11.7,0.0257092,EXAC_AFR_AF,DSPP
624791,4:88536175:C>A,88536175,NM_014208.3,NM_014208.3:c.2361C>A,NP_055023.2:p.Asp787Glu,787,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,7.583,\N,\N,DSPP
624792,4:88536188:A>G,88536188,NM_014208.3,NM_014208.3:c.2374A>G,NP_055023.2:p.Ser792Gly,792,5/5,\N,Benign,\N,missense_variant,MODERATE,\N,\N,0.492,0.0129,1KG_AFR_AF,DSPP
624793,4:88536191:GACAGCAGTGATAGCAGCA>G,88536191,NM_014208.3,NM_014208.3:c.2412_2429del,NP_055023.2:p.Asn805_Ser810del,793-799,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,9.366,\N,\N,DSPP
624794,4:88536196:C>A,88536196,NM_014208.3,NM_014208.3:c.2382C>A,NP_055023.2:p.Ser794Arg,794,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,7.326,0.00100503,EVS_EA_AF,DSPP
624795,4:88536202:TAGCAGCAAC>T,88536202,NM_014208.3,NM_014208.3:c.2394_2402del,NP_055023.2:p.Asn799_Ser801del,797-799,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,8.39,\N,\N,DSPP
624796,4:88536226:C>T,88536226,NM_014208.3,NM_014208.3:c.2412C>T,NP_055023.2:p.Ser804=,804,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,5.3,\N,\N,DSPP
624797,4:88536227:A>C,88536227,NM_014208.3,NM_014208.3:c.2413A>C,NP_055023.2:p.Asn805His,805,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,0.002,0.000111932,EXAC_NFE_AF,DSPP
624798,4:88536227:A>G,88536227,NM_014208.3,NM_014208.3:c.2413A>G,NP_055023.2:p.Asn805Asp,805,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,0.018,0.002,1KG_EUR_AF,DSPP
624799,4:88536229:C>T,88536229,NM_014208.3,NM_014208.3:c.2415C>T,NP_055023.2:p.Asn805=,805,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,6.738,\N,\N,DSPP
624800,4:88536229:CAGCAGTGAT>C,88536229,NM_014208.3,NM_014208.3:c.2433_2441del,NP_055023.2:p.Ser816_Ser818del,806-808,5/5,\N,Benign,\N,inframe_deletion,MODERATE,\N,\N,8.311,0.0098,1KG_AFR_AF,DSPP
624801,4:88536232:C>T,88536232,NM_014208.3,NM_014208.3:c.2418C>T,NP_055023.2:p.Ser806=,806,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,8.954,0.000169147,EVS_EA_AF,DSPP
624802,4:88536247:T>C,88536247,NM_014208.3,NM_014208.3:c.2433T>C,NP_055023.2:p.Asp811=,811,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,0.079,0.00243902,EXAC_AMR_AF,DSPP
624803,4:88536253:TGACAGCAGTGATAGC>T,88536253,NM_014208.3,NM_014208.3:c.2448_2462del,NP_055023.2:p.Asp817_Ser821del,814-818,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,8.104,\N,\N,DSPP
624804,4:88536258:G>A,88536258,NM_014208.3,NM_014208.3:c.2444G>A,NP_055023.2:p.Ser815Asn,815,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,2.42,0.000111857,EXAC_NFE_AF,DSPP
624805,4:88536264:A>G,88536264,NM_014208.3,NM_014208.3:c.2450A>G,NP_055023.2:p.Asp817Gly,817,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,2.558,0.000126358,EXAC_SAS_AF,DSPP
624806,4:88536268:C>T,88536268,NM_014208.3,NM_014208.3:c.2454C>T,NP_055023.2:p.Ser818=,818,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,12.31,0.00243902,EVS_AA_AF,DSPP
624807,4:88536269:G>A,88536269,NM_014208.3,NM_014208.3:c.2455G>A,NP_055023.2:p.Asp819Asn,819,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,0.102,0.000895055,EXAC_NFE_AF,DSPP
624808,4:88536278:A>G,88536278,NM_014208.3,NM_014208.3:c.2464A>G,NP_055023.2:p.Asn822Asp,822,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,0.02,0.0029,1KG_AMR_AF,DSPP
624809,4:88536295:T>C,88536295,NM_014208.3,NM_014208.3:c.2481T>C,NP_055023.2:p.Ser827=,827,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,0.649,0.0029,1KG_AMR_AF,DSPP
624810,4:88536296:A>G,88536296,NM_014208.3,NM_014208.3:c.2482A>G,NP_055023.2:p.Asn828Asp,828,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,9.14,\N,\N,DSPP
624811,4:88536298:T>C,88536298,NM_014208.3,NM_014208.3:c.2484T>C,NP_055023.2:p.Asn828=,828,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,0.051,0.0029,1KG_AMR_AF,DSPP
624812,4:88536300:G>A,88536300,NM_014208.3,NM_014208.3:c.2486G>A,NP_055023.2:p.Ser829Asn,829,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,5.569,0.00030248,EVS_AA_AF,DSPP
624813,4:88536310:C>A,88536310,NM_014208.3,NM_014208.3:c.2496C>A,NP_055023.2:p.Ser832Arg,832,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,8.8,0.003,1KG_EAS_AF,DSPP
624814,4:88536313:CGATAGCAGCAACAGCAGT>C,88536313,NM_014208.3,NM_014208.3:c.2509_2526del,NP_055023.2:p.Asn837_Ser842del,834-839,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,7.402,\N,\N,DSPP
624815,4:88536316:TAGC>T,88536316,NM_014208.3,NM_014208.3:c.2507_2509del,NP_055023.2:p.Ser836del,835,5/5,\N,Benign,\N,inframe_deletion,MODERATE,\N,\N,8.97,0.1213,1KG_EUR_AF,DSPP
624816,4:88536321:G>T,88536321,NM_014208.3,NM_014208.3:c.2507G>T,NP_055023.2:p.Ser836Ile,836,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,6.299,\N,\N,DSPP
624817,4:88536323:A>C,88536323,NM_014208.3,NM_014208.3:c.2509A>C,NP_055023.2:p.Asn837His,837,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,0.002,0.000112133,EXAC_NFE_AF,DSPP
624818,4:88536323:A>G,88536323,NM_014208.3,NM_014208.3:c.2509A>G,NP_055023.2:p.Asn837Asp,837,5/5,\N,Benign,\N,missense_variant,MODERATE,\N,\N,0.034,0.00933707,EXAC_AFR_AF,DSPP
624819,4:88536325:C>T,88536325,NM_014208.3,NM_014208.3:c.2511C>T,NP_055023.2:p.Asn837=,837,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,5.679,0.0014,1KG_AMR_AF,DSPP
624820,4:88536331:T>A,88536331,NM_014208.3,NM_014208.3:c.2517T>A,NP_055023.2:p.Ser839Arg,839,5/5,\N,Benign,\N,missense_variant,MODERATE,\N,\N,8.355,0.0275091,EVS_AA_AF,DSPP
624821,4:88536338:AG>A,88536338,NM_014208.3,NM_014208.3:c.2525del,NP_055023.2:p.Ser842ThrfsTer472,842,5/5,\N,Pathogenic,Dentinogenesis imperfecta type II,frameshift_variant,HIGH,\N,\N,23.8,\N,\N,DSPP
624822,4:88536349:C>A,88536349,NM_014208.3,NM_014208.3:c.2535C>A,NP_055023.2:p.Ser845Arg,845,5/5,\N,Benign,\N,missense_variant,MODERATE,\N,\N,13.99,0.0315343,EVS_AA_AF,DSPP
624823,4:88536349:C>T,88536349,NM_014208.3,NM_014208.3:c.2535C>T,NP_055023.2:p.Ser845=,845,5/5,\N,Benign,\N,synonymous_variant,LOW,\N,\N,13,0.0194,1KG_SAS_AF,DSPP
624824,4:88536350:G>A,88536350,NM_014208.3,NM_014208.3:c.2536G>A,NP_055023.2:p.Asp846Asn,846,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,11.79,0.000111907,EXAC_NFE_AF,DSPP
624825,4:88536361:C>T,88536361,NM_014208.3,NM_014208.3:c.2547C>T,NP_055023.2:p.Asp849=,849,5/5,\N,Benign,\N,synonymous_variant,LOW,\N,\N,11.47,0.00693667,EXAC_NFE_AF,DSPP
624826,4:88536362:G>A,88536362,NM_014208.3,NM_014208.3:c.2548G>A,NP_055023.2:p.Gly850Ser,850,5/5,\N,Benign,\N,missense_variant,MODERATE,\N,\N,11.75,0.794118,EXAC_FIN_AF,DSPP
624827,4:88536373:C>T,88536373,NM_014208.3,NM_014208.3:c.2559C>T,NP_055023.2:p.Ser853=,853,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,10.32,\N,\N,DSPP
624828,4:88536373:CGACAGCAGCAATAGAAGTGACAGTAGTAATAGTAGT>C,88536373,NM_014208.3,NM_014208.3:c.2569_2604del,NP_055023.2:p.Asn857_Ser868del,854-865,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,7.089,\N,\N,DSPP
624829,4:88536376:C>T,88536376,NM_014208.3,NM_014208.3:c.2562C>T,NP_055023.2:p.Asp854=,854,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,7.291,\N,\N,DSPP
624830,4:88536383:A>G,88536383,NM_014208.3,NM_014208.3:c.2569A>G,NP_055023.2:p.Asn857Asp,857,5/5,\N,Benign,\N,missense_variant,MODERATE,\N,\N,0.305,0.0242,1KG_AFR_AF,DSPP
624831,4:88536384:A>G,88536384,NM_014208.3,NM_014208.3:c.2570A>G,NP_055023.2:p.Asn857Ser,857,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,1.299,0.000169492,EVS_EA_AF,DSPP
624832,4:88536385:T>C,88536385,NM_014208.3,NM_014208.3:c.2571T>C,NP_055023.2:p.Asn857=,857,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,0.035,0.000607903,EVS_AA_AF,DSPP
624833,4:88536388:A>C,88536388,NM_014208.3,NM_014208.3:c.2574A>C,NP_055023.2:p.Arg858Ser,858,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,6.214,\N,\N,DSPP
624834,4:88536394:C>T,88536394,NM_014208.3,NM_014208.3:c.2580C>T,NP_055023.2:p.Asp860=,860,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,7.653,0.00101112,EXAC_SAS_AF,DSPP
624835,4:88536394:CAGT>C,88536394,NM_014208.3,NM_014208.3:c.2585_2587del,NP_055023.2:p.Ser862del,861,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,4.785,0.000905797,EXAC_AFR_AF,DSPP
624836,4:88536396:G>A,88536396,NM_014208.3,NM_014208.3:c.2582G>A,NP_055023.2:p.Ser861Asn,861,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,0.046,0.000505561,EXAC_SAS_AF,DSPP
624837,4:88536397:T>C,88536397,NM_014208.3,NM_014208.3:c.2583T>C,NP_055023.2:p.Ser861=,861,5/5,\N,Benign,\N,synonymous_variant,LOW,\N,\N,0.053,0.0109489,EVS_AA_AF,DSPP
624838,4:88536401:A>G,88536401,NM_014208.3,NM_014208.3:c.2587A>G,NP_055023.2:p.Asn863Asp,863,5/5,\N,Benign,\N,missense_variant,MODERATE,\N,\N,3.677,0.0113,1KG_AFR_AF,DSPP
624839,4:88536402:ATAG>A,88536402,NM_014208.3,NM_014208.3:c.2593_2595del,NP_055023.2:p.Ser865del,863-864,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,7.891,\N,\N,DSPP
624840,4:88536406:TA>T,88536406,NM_014208.3,NM_014208.3:c.2593del,NP_055023.2:p.Ser865ValfsTer449,865,5/5,\N,Pathogenic,Dentinogenesis imperfecta type II,frameshift_variant,HIGH,\N,\N,23.8,\N,\N,DSPP
624841,4:88536409:T>C,88536409,NM_014208.3,NM_014208.3:c.2595T>C,NP_055023.2:p.Ser865=,865,5/5,\N,Benign,\N,synonymous_variant,LOW,\N,\N,0.29,0.0212,1KG_AFR_AF,DSPP
624842,4:88536418:C>T,88536418,NM_014208.3,NM_014208.3:c.2604C>T,NP_055023.2:p.Ser868=,868,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,12.89,0.00243902,EXAC_AMR_AF,DSPP
624843,4:88536419:G>A,88536419,NM_014208.3,NM_014208.3:c.2605G>A,NP_055023.2:p.Asp869Asn,869,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,10.34,0.000446429,EXAC_AFR_AF,DSPP
624844,4:88536424:C>T,88536424,NM_014208.3,NM_014208.3:c.2610C>T,NP_055023.2:p.Ser870=,870,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,6.099,0.001,1KG_EUR_AF,DSPP
624845,4:88536429:A>C,88536429,NM_014208.3,NM_014208.3:c.2615A>C,NP_055023.2:p.Asp872Ala,872,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,6.195,0.00012639,EXAC_SAS_AF,DSPP
624846,4:88536437:A>G,88536437,NM_014208.3,NM_014208.3:c.2623A>G,NP_055023.2:p.Asn875Asp,875,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,0.191,\N,\N,DSPP
624847,4:88536446:G>T,88536446,NM_014208.3,NM_014208.3:c.2632G>T,NP_055023.2:p.Asp878Tyr,878,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,8.561,\N,\N,DSPP
624848,4:88536448:C>T,88536448,NM_014208.3,NM_014208.3:c.2634C>T,NP_055023.2:p.Asp878=,878,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,3.693,\N,\N,DSPP
624849,4:88536451:C>CTAGTGACAG,88536451,NM_014208.3,NM_014208.3:c.2637_2638insTAGTGACAG,NP_055023.2:p.Ser879_Ser880insTer,879-880,5/5,\N,Unknown significance,\N,stop_gained&inframe_insertion,HIGH,\N,\N,\N,\N,\N,DSPP
624850,4:88536451:C>T,88536451,NM_014208.3,NM_014208.3:c.2637C>T,NP_055023.2:p.Ser879=,879,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,8.548,\N,\N,DSPP
624851,4:88536457:T>C,88536457,NM_014208.3,NM_014208.3:c.2643T>C,NP_055023.2:p.Asp881=,881,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,0.014,\N,\N,DSPP
624852,4:88536457:T>TAGTAGTGAC,88536457,NM_014208.3,NM_014208.3:c.2645_2646insTAGTGACAG,NP_055023.2:p.Ser883_Ser885dup,881-882,5/5,\N,Benign,\N,inframe_insertion,MODERATE,\N,\N,2.214,0.7209,1KG_AFR_AF,DSPP
624853,4:88536460:C>T,88536460,NM_014208.3,NM_014208.3:c.2646C>T,NP_055023.2:p.Ser882=,882,5/5,\N,Benign,\N,synonymous_variant,LOW,\N,\N,9.44,0.0317769,EXAC_AFR_AF,DSPP
624854,4:88536466:CAGCAACGAAAGCAGCAAT>C,88536466,NM_014208.3,NM_014208.3:c.2657_2674del,NP_055023.2:p.Asn886_Ser891del,885-890,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,9.738,\N,\N,DSPP
624855,4:88536470:A>AGTG,88536470,NM_014208.3,NM_014208.3:c.2656_2657insGTG,NP_055023.2:p.Asn886delinsSerAsp,886,5/5,\N,Unknown significance,\N,protein_altering_variant,MODERATE,\N,\N,0.309,0.000895255,EXAC_AFR_AF,DSPP
624856,4:88536471:A>G,88536471,NM_014208.3,NM_014208.3:c.2657A>G,NP_055023.2:p.Asn886Ser,886,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,0.07,\N,\N,DSPP
624857,4:88536472:C>G,88536472,NM_014208.3,NM_014208.3:c.2658C>G,NP_055023.2:p.Asn886Lys,886,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,7.211,0.001,1KG_EUR_AF,DSPP
624858,4:88536472:C>T,88536472,NM_014208.3,NM_014208.3:c.2658C>T,NP_055023.2:p.Asn886=,886,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,9.787,\N,\N,DSPP
624859,4:88536474:AAAG>A,88536474,NM_014208.3,NM_014208.3:c.2661_2663del,NP_055023.2:p.Glu887_Ser888delinsAsp,887-888,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,0.882,0.000673401,EXAC_NFE_AF,DSPP
624860,4:88536475:A>C,88536475,NM_014208.3,NM_014208.3:c.2661A>C,NP_055023.2:p.Glu887Asp,887,5/5,\N,Benign,\N,missense_variant,MODERATE,\N,\N,0.334,0.00582627,EXAC_AFR_AF,DSPP
624861,4:88536479:AG>A,88536479,NM_014208.3,NM_014208.3:c.2666del,NP_055023.2:p.Ser889ThrfsTer425,889,5/5,\N,Pathogenic,Dentinogenesis imperfecta type II,frameshift_variant,HIGH,\N,\N,24.6,\N,\N,DSPP
624862,4:88536480:G>A,88536480,NM_014208.3,NM_014208.3:c.2666G>A,NP_055023.2:p.Ser889Asn,889,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,7.697,0.00497288,EXAC_AFR_AF,DSPP
624863,4:88536487:C>T,88536487,NM_014208.3,NM_014208.3:c.2673C>T,NP_055023.2:p.Ser891=,891,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,9.998,\N,\N,DSPP
624864,4:88536487:C>A,88536487,NM_014208.3,NM_014208.3:c.2673C>A,NP_055023.2:p.Ser891Arg,891,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,12.64,\N,\N,DSPP
624865,4:88536487:CAGTGACAGCAGTGATAGCAGCAACAGCAGTGAT>C,88536487,NM_014208.3,NM_014208.3:c.2706_2738del,NP_055023.2:p.Asp904_Ser914del,892-902,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,9.416,\N,\N,DSPP
624866,4:88536491:G>T,88536491,NM_014208.3,NM_014208.3:c.2677G>T,NP_055023.2:p.Asp893Tyr,893,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,12.25,\N,\N,DSPP
624867,4:88536493:C>T,88536493,NM_014208.3,NM_014208.3:c.2679C>T,NP_055023.2:p.Asp893=,893,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,6.43,\N,\N,DSPP
624868,4:88536497:A>G,88536497,NM_014208.3,NM_014208.3:c.2683A>G,NP_055023.2:p.Ser895Gly,895,5/5,\N,Benign,\N,missense_variant,MODERATE,\N,\N,8.49,0.0053,1KG_AFR_AF,DSPP
624869,4:88536497:AG>A,88536497,NM_014208.3,NM_014208.3:c.2684del,NP_055023.2:p.Ser895MetfsTer419,895,5/5,\N,Pathogenic,Dentinogenesis imperfecta type II,frameshift_variant,HIGH,\N,\N,25.5,\N,\N,DSPP
624870,4:88536501:AT>A,88536501,NM_014208.3,NM_014208.3:c.2688del,NP_055023.2:p.Asp896GlufsTer418,896,5/5,\N,Pathogenic,Dentinogenesis imperfecta type II,frameshift_variant,HIGH,\N,\N,22.9,\N,\N,DSPP
624871,4:88536502:T>C,88536502,NM_014208.3,NM_014208.3:c.2688T>C,NP_055023.2:p.Asp896=,896,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,0.023,\N,\N,DSPP
624872,4:88536502:TAGC>T,88536502,NM_014208.3,NM_014208.3:c.2693_2695del,NP_055023.2:p.Ser898del,897,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,10.39,\N,\N,DSPP
624873,4:88536507:G>A,88536507,NM_014208.3,NM_014208.3:c.2693G>A,NP_055023.2:p.Ser898Asn,898,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,0.231,0.000301205,EVS_AA_AF,DSPP
624874,4:88536519:A>ACAG,88536519,NM_014208.3,NM_014208.3:c.2705_2706insCAG,NP_055023.2:p.Ser903dup,902,5/5,\N,Unknown significance,\N,inframe_insertion,MODERATE,\N,\N,0.016,\N,\N,DSPP
624875,4:88536519:ATAGTGACAGCAGTGATAGCAGCAACAG>A,88536519,NM_014208.3,NM_014208.3:c.2706_2732del,NP_055023.2:p.Asp916_Ser924del,902-911,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,9.768,\N,\N,DSPP
624876,4:88536520:T>C,88536520,NM_014208.3,NM_014208.3:c.2706T>C,NP_055023.2:p.Asp902=,902,5/5,\N,Benign,\N,synonymous_variant,LOW,\N,\N,0.024,0.42962,EXAC_SAS_AF,DSPP
624877,4:88536520:TAGTGACAGCAGTGATAGCAGCAACAGC>T,88536520,NM_014208.3,NM_014208.3:c.2739_2765del,NP_055023.2:p.Asp916_Ser924del,903-911,5/5,\N,Benign,\N,inframe_deletion,MODERATE,\N,\N,9.799,0.0188849,EXAC_AFR_AF,DSPP
624878,4:88536520:T>TGACAGCAGTGATAGCAGCAACAGC,88536520,NM_014208.3,NM_014208.3:c.2706_2707insGACAGCAGTGATAGCAGCAACAGC,NP_055023.2:p.Asp902_Ser903insAspSerSerAspSerSerAsnSer,902-903,5/5,\N,Benign,\N,inframe_insertion,MODERATE,\N,\N,0.054,0.00526316,EXAC_OTH_AF,DSPP
624879,4:88536524:G>GATAGCAGCA,88536524,NM_014208.3,NM_014208.3:c.2711_2712insTAGCAGCAA,NP_055023.2:p.Ser906_Asp907insAsnSerSer,904,5/5,\N,Unknown significance,\N,inframe_insertion,MODERATE,\N,\N,0.037,\N,\N,DSPP
624880,4:88536535:T>C,88536535,NM_014208.3,NM_014208.3:c.2721T>C,NP_055023.2:p.Asp907=,907,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,0.074,\N,\N,DSPP
624881,4:88536535:T>G,88536535,NM_014208.3,NM_014208.3:c.2721T>G,NP_055023.2:p.Asp907Glu,907,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,8.894,\N,\N,DSPP
624882,4:88536535:TAGC>T,88536535,NM_014208.3,NM_014208.3:c.2726_2728del,NP_055023.2:p.Ser909del,908,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,11.12,\N,\N,DSPP
624883,4:88536535:TAGCAGC>T,88536535,NM_014208.3,NM_014208.3:c.2723_2728del,NP_055023.2:p.Ser908_Ser909del,908-909,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,10.86,\N,\N,DSPP
624884,4:88536537:G>A,88536537,NM_014208.3,NM_014208.3:c.2723G>A,NP_055023.2:p.Ser908Asn,908,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,7.738,0.000495295,EXAC_NFE_AF,DSPP
624885,4:88536541:C>T,88536541,NM_014208.3,NM_014208.3:c.2727C>T,NP_055023.2:p.Ser909=,909,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,8.387,0.000238209,EXAC_NFE_AF,DSPP
624886,4:88536542:AACAGCAGTG>A,88536542,NM_014208.3,NM_014208.3:c.2739_2747del,NP_055023.2:p.Asp916_Ser918del,910-913,5/5,\N,Benign,\N,inframe_deletion,MODERATE,\N,\N,11.95,0.3858,1KG_AFR_AF,DSPP
624887,4:88536548:AGTG>A,88536548,NM_014208.3,NM_014208.3:c.2735_2737del,NP_055023.2:p.Ser912_Asp913delinsAsn,912-913,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,9.568,\N,\N,DSPP
624888,4:88536550:T>C,88536550,NM_014208.3,NM_014208.3:c.2736T>C,NP_055023.2:p.Ser912=,912,5/5,\N,Benign,\N,synonymous_variant,LOW,\N,\N,0.38,0.470588,EXAC_FIN_AF,DSPP
624889,4:88536551:G>GACAGCAGTGATAGCAGCA,88536551,NM_014208.3,NM_014208.3:c.2754_2771dup,NP_055023.2:p.Asn919_Ser924dup,913,5/5,\N,Unknown significance,\N,inframe_insertion,MODERATE,\N,\N,1.083,\N,\N,DSPP
624890,4:88536553:C>T,88536553,NM_014208.3,NM_014208.3:c.2739C>T,NP_055023.2:p.Asp913=,913,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,8.035,\N,\N,DSPP
624891,4:88536553:CAGCAGTGAT>C,88536553,NM_014208.3,NM_014208.3:c.2745_2753del,NP_055023.2:p.Asp916_Ser918del,914-916,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,11.75,\N,\N,DSPP
624892,4:88536562:T>C,88536562,NM_014208.3,NM_014208.3:c.2748T>C,NP_055023.2:p.Asp916=,916,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,0.088,0.0015,1KG_AFR_AF,DSPP
624893,4:88536571:C>T,88536571,NM_014208.3,NM_014208.3:c.2757C>T,NP_055023.2:p.Asn919=,919,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,6.916,\N,\N,DSPP
624894,4:88536571:CAGCAGTGATAGCAGTGAA>C,88536571,NM_014208.3,NM_014208.3:c.2764_2781del,NP_055023.2:p.Asp922_Ser927del,920-925,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,11.59,\N,\N,DSPP
624895,4:88536580:TAGC>T,88536580,NM_014208.3,NM_014208.3:c.2769_2771del,NP_055023.2:p.Ser924del,923,5/5,\N,Benign,\N,inframe_deletion,MODERATE,\N,\N,12.89,0.0105263,EXAC_OTH_AF,DSPP
624896,4:88536592:C>T,88536592,NM_014208.3,NM_014208.3:c.2778C>T,NP_055023.2:p.Ser926=,926,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,9.606,0.00012639,EXAC_SAS_AF,DSPP
624897,4:88536595:T>C,88536595,NM_014208.3,NM_014208.3:c.2781T>C,NP_055023.2:p.Ser927=,927,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,0.073,\N,\N,DSPP
624898,4:88536597:ATAG>A,88536597,NM_014208.3,NM_014208.3:c.2788_2790del,NP_055023.2:p.Ser930del,928-929,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,11.06,\N,\N,DSPP
624899,4:88536598:T>C,88536598,NM_014208.3,NM_014208.3:c.2784T>C,NP_055023.2:p.Asn928=,928,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,0.185,\N,\N,DSPP
624900,4:88536610:C>T,88536610,NM_014208.3,NM_014208.3:c.2796C>T,NP_055023.2:p.Asn932=,932,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,6.221,\N,\N,DSPP
624901,4:88536632:AACAGCAGTG>A,88536632,NM_014208.3,NM_014208.3:c.2829_2837del,NP_055023.2:p.Asp949_Ser951del,940-943,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,10.57,\N,\N,DSPP
624902,4:88536640:T>C,88536640,NM_014208.3,NM_014208.3:c.2826T>C,NP_055023.2:p.Ser942=,942,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,0.267,0.0015,1KG_AFR_AF,DSPP
624903,4:88536641:G>A,88536641,NM_014208.3,NM_014208.3:c.2827G>A,NP_055023.2:p.Asp943Asn,943,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,11.72,0.0015,1KG_AFR_AF,DSPP
624904,4:88536643:CAGCAGTGAT>C,88536643,NM_014208.3,NM_014208.3:c.2838_2846del,NP_055023.2:p.Asp949_Ser951del,944-946,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,11.23,\N,\N,DSPP
624905,4:88536650:G>T,88536650,NM_014208.3,NM_014208.3:c.2836G>T,NP_055023.2:p.Asp946Tyr,946,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,3.051,0.000335871,EXAC_NFE_AF,DSPP
624906,4:88536652:T>C,88536652,NM_014208.3,NM_014208.3:c.2838T>C,NP_055023.2:p.Asp946=,946,5/5,\N,Benign,\N,synonymous_variant,LOW,\N,\N,0.067,0.031003,EVS_AA_AF,DSPP
624907,4:88536655:C>T,88536655,NM_014208.3,NM_014208.3:c.2841C>T,NP_055023.2:p.Ser947=,947,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,7.195,\N,\N,DSPP
624908,4:88536658:T>A,88536658,NM_014208.3,NM_014208.3:c.2844T>A,NP_055023.2:p.Ser948Arg,948,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,8.806,0.000223814,EXAC_NFE_AF,DSPP
624909,4:88536659:G>A,88536659,NM_014208.3,NM_014208.3:c.2845G>A,NP_055023.2:p.Asp949Asn,949,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,10.78,\N,\N,DSPP
624910,4:88536668:A>G,88536668,NM_014208.3,NM_014208.3:c.2854A>G,NP_055023.2:p.Asn952Asp,952,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,0.029,\N,\N,DSPP
624911,4:88536669:ATAG>A,88536669,NM_014208.3,NM_014208.3:c.2860_2862del,NP_055023.2:p.Ser954del,952-953,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,7.649,0.00044484,EXAC_AFR_AF,DSPP
624912,4:88536670:T>C,88536670,NM_014208.3,NM_014208.3:c.2856T>C,NP_055023.2:p.Asn952=,952,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,0.174,\N,\N,DSPP
624913,4:88536673:T>C,88536673,NM_014208.3,NM_014208.3:c.2859T>C,NP_055023.2:p.Ser953=,953,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,0.09,\N,\N,DSPP
624914,4:88536675:G>A,88536675,NM_014208.3,NM_014208.3:c.2861G>A,NP_055023.2:p.Ser954Asn,954,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,4.673,\N,\N,DSPP
624915,4:88536676:T>C,88536676,NM_014208.3,NM_014208.3:c.2862T>C,NP_055023.2:p.Ser954=,954,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,0.815,\N,\N,DSPP
624916,4:88536679:C>A,88536679,NM_014208.3,NM_014208.3:c.2865C>A,NP_055023.2:p.Asp955Glu,955,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,15.04,\N,\N,DSPP
624917,4:88536687:A>C,88536687,NM_014208.3,NM_014208.3:c.2873A>C,NP_055023.2:p.Asn958Thr,958,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,0.069,0.000168634,EVS_EA_AF,DSPP
624918,4:88536688:T>C,88536688,NM_014208.3,NM_014208.3:c.2874T>C,NP_055023.2:p.Asn958=,958,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,0.055,0.00101146,EVS_EA_AF,DSPP
624919,4:88536688:T>TAGCAGTGACAGCAGCAAC,88536688,NM_014208.3,NM_014208.3:c.2889_2906dup,NP_055023.2:p.Asn964_Ser969dup,958-959,5/5,\N,Unknown significance,\N,inframe_insertion,MODERATE,\N,\N,1.864,\N,\N,DSPP
624920,4:88536691:C>T,88536691,NM_014208.3,NM_014208.3:c.2877C>T,NP_055023.2:p.Ser959=,959,5/5,\N,Benign,\N,synonymous_variant,LOW,\N,\N,7.219,0.00798722,EXAC_EAS_AF,DSPP
624921,4:88536692:A>G,88536692,NM_014208.3,NM_014208.3:c.2878A>G,NP_055023.2:p.Ser960Gly,960,5/5,\N,Benign,\N,missense_variant,MODERATE,\N,\N,4.99,0.794118,EXAC_FIN_AF,DSPP
624922,4:88536697:C>T,88536697,NM_014208.3,NM_014208.3:c.2883C>T,NP_055023.2:p.Asp961=,961,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,8.851,\N,\N,DSPP
624923,4:88536736:C>T,88536736,NM_014208.3,NM_014208.3:c.2922C>T,NP_055023.2:p.Ser974=,974,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,11.85,0.000224014,EXAC_NFE_AF,DSPP
624924,4:88536737:G>A,88536737,NM_014208.3,NM_014208.3:c.2923G>A,NP_055023.2:p.Asp975Asn,975,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,7.161,0.001,1KG_EUR_AF|1KG_SAS_AF,DSPP
624925,4:88536754:C>T,88536754,NM_014208.3,NM_014208.3:c.2940C>T,NP_055023.2:p.Ser980=,980,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,6.98,0.0045,1KG_AFR_AF,DSPP
624926,4:88536757:C>T,88536757,NM_014208.3,NM_014208.3:c.2943C>T,NP_055023.2:p.Asn981=,981,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,6.673,0.0045,1KG_AFR_AF,DSPP
624927,4:88536763:C>T,88536763,NM_014208.3,NM_014208.3:c.2949C>T,NP_055023.2:p.Ser983=,983,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,11.96,\N,\N,DSPP
624928,4:88536763:CGATAGCAGTGACAGCAGT>C,88536763,NM_014208.3,NM_014208.3:c.2970_2987del,NP_055023.2:p.Asp996_Ser1001del,984-989,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,9.628,\N,\N,DSPP
624929,4:88536764:G>A,88536764,NM_014208.3,NM_014208.3:c.2950G>A,NP_055023.2:p.Asp984Asn,984,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,7.653,0.0023532,EXAC_NFE_AF,DSPP
624930,4:88536766:T>TAGCAGTGACAGCAGTGATAGCAGTGAC,88536766,NM_014208.3,NM_014208.3:c.2976_3002dup,NP_055023.2:p.Asp993_Ser1001dup,984-985,5/5,\N,Unknown significance,\N,inframe_insertion,MODERATE,\N,\N,0.726,\N,\N,DSPP
624931,4:88536766:TAGC>T,88536766,NM_014208.3,NM_014208.3:c.2955_2957del,NP_055023.2:p.Ser986del,985,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,11.31,\N,\N,DSPP
624932,4:88536783:A>G,88536783,NM_014208.3,NM_014208.3:c.2969A>G,NP_055023.2:p.Asp990Gly,990,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,5.584,\N,\N,DSPP
624933,4:88536784:T>A,88536784,NM_014208.3,NM_014208.3:c.2970T>A,NP_055023.2:p.Asp990Glu,990,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,0.138,\N,\N,DSPP
624934,4:88536784:T>C,88536784,NM_014208.3,NM_014208.3:c.2970T>C,NP_055023.2:p.Asp990=,990,5/5,\N,Benign,\N,synonymous_variant,LOW,\N,\N,0.017,0.016158,EVS_AA_AF,DSPP
624935,4:88536784:TAGCAGTGAC>T,88536784,NM_014208.3,NM_014208.3:c.2988_2996del,NP_055023.2:p.Asp999_Ser1001del,991-993,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,11.96,\N,\N,DSPP
624936,4:88536787:C>T,88536787,NM_014208.3,NM_014208.3:c.2973C>T,NP_055023.2:p.Ser991=,991,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,9.398,\N,\N,DSPP
624937,4:88536787:CAGT>C,88536787,NM_014208.3,NM_014208.3:c.2974_2976del,NP_055023.2:p.Ser992del,992,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,8.955,0.000506842,EXAC_SAS_AF,DSPP
624938,4:88536790:T>C,88536790,NM_014208.3,NM_014208.3:c.2976T>C,NP_055023.2:p.Ser992=,992,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,0.116,\N,\N,DSPP
624939,4:88536791:GACAGCAGTGACAGCAGTGATAGCAGCA>G,88536791,NM_014208.3,NM_014208.3:c.2988_3014del,NP_055023.2:p.Asn1002_Ser1010del,993-1002,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,11.29,\N,\N,DSPP
624940,4:88536799:T>C,88536799,NM_014208.3,NM_014208.3:c.2985T>C,NP_055023.2:p.Ser995=,995,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,0.079,0.000475285,EXAC_AFR_AF,DSPP
624941,4:88536800:G>A,88536800,NM_014208.3,NM_014208.3:c.2986G>A,NP_055023.2:p.Asp996Asn,996,5/5,\N,Benign,\N,missense_variant,MODERATE,\N,\N,10.03,0.0287,1KG_AFR_AF,DSPP
624942,4:88536800:GACAGCAGTGATAGCAGCA>G,88536800,NM_014208.3,NM_014208.3:c.3003_3020del,NP_055023.2:p.Asn1002_Ser1007del,996-1002,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,12.06,0.000923361,EXAC_AFR_AF,DSPP
624943,4:88536802:C>T,88536802,NM_014208.3,NM_014208.3:c.2988C>T,NP_055023.2:p.Asp996=,996,5/5,\N,Benign,\N,synonymous_variant,LOW,\N,\N,5.518,0.0051,1KG_SAS_AF,DSPP
624944,4:88536811:T>A,88536811,NM_014208.3,NM_014208.3:c.2997T>A,NP_055023.2:p.Asp999Glu,999,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,10.13,\N,\N,DSPP
624945,4:88536817:C>T,88536817,NM_014208.3,NM_014208.3:c.3003C>T,NP_055023.2:p.Ser1001=,1001,5/5,\N,Benign,\N,synonymous_variant,LOW,\N,\N,8.824,0.0061,1KG_AFR_AF,DSPP
624946,4:88536817:CAACAGCAGT>C,88536817,NM_014208.3,NM_014208.3:c.3004_3012del,NP_055023.2:p.Asn1002_Ser1004del,1002-1004,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,10.77,\N,\N,DSPP
624947,4:88536818:A>G,88536818,NM_014208.3,NM_014208.3:c.3004A>G,NP_055023.2:p.Asn1002Asp,1002,5/5,\N,Benign,\N,missense_variant,MODERATE,\N,\N,6.132,0.3761,1KG_AMR_AF,DSPP
624948,4:88536820:CAGCAGTGAT>C,88536820,NM_014208.3,NM_014208.3:c.3015_3023del,NP_055023.2:p.Asp1014_Ser1016del,1003-1005,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,11.27,\N,\N,DSPP
624949,4:88536824:A>G,88536824,NM_014208.3,NM_014208.3:c.3010A>G,NP_055023.2:p.Ser1004Gly,1004,5/5,\N,Benign,\N,missense_variant,MODERATE,\N,\N,2.29,0.00531915,EXAC_OTH_AF,DSPP
624950,4:88536829:T>C,88536829,NM_014208.3,NM_014208.3:c.3015T>C,NP_055023.2:p.Asp1005=,1005,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,0.087,\N,\N,DSPP
624951,4:88536829:TAGC>T,88536829,NM_014208.3,NM_014208.3:c.3018_3020del,NP_055023.2:p.Ser1007del,1006,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,\N,\N,\N,DSPP
624952,4:88536829:TAGCAGTGAC>T,88536829,NM_014208.3,NM_014208.3:c.3033_3041del,NP_055023.2:p.Asp1014_Ser1016del,1006-1008,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,14.06,\N,\N,DSPP
624953,4:88536835:T>C,88536835,NM_014208.3,NM_014208.3:c.3021T>C,NP_055023.2:p.Ser1007=,1007,5/5,\N,Benign,\N,synonymous_variant,LOW,\N,\N,1.838,0.0279969,EXAC_SAS_AF,DSPP
624954,4:88536838:C>T,88536838,NM_014208.3,NM_014208.3:c.3024C>T,NP_055023.2:p.Asp1008=,1008,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,10.31,0.00238338,EVS_EA_AF,DSPP
624955,4:88536844:T>C,88536844,NM_014208.3,NM_014208.3:c.3030T>C,NP_055023.2:p.Ser1010=,1010,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,2.262,0.0029,1KG_AMR_AF,DSPP
624956,4:88536847:CAGCAGTGAT>C,88536847,NM_014208.3,NM_014208.3:c.3040_3048del,NP_055023.2:p.Asp1014_Ser1016del,1012-1014,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,13.21,\N,\N,DSPP
624957,4:88536852:G>GTGA,88536852,NM_014208.3,NM_014208.3:c.3040_3042dup,NP_055023.2:p.Asp1014dup,1013,5/5,\N,Unknown significance,\N,inframe_insertion,MODERATE,\N,\N,5.986,\N,\N,DSPP
624958,4:88536854:G>A,88536854,NM_014208.3,NM_014208.3:c.3040G>A,NP_055023.2:p.Asp1014Asn,1014,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,14.71,0.00011241,EXAC_NFE_AF,DSPP
624959,4:88536854:GATAGCAGTA>G,88536854,NM_014208.3,NM_014208.3:c.3045_3053del,NP_055023.2:p.Asn1017_Ser1019del,1014-1017,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,\N,\N,\N,DSPP
624960,4:88536856:T>C,88536856,NM_014208.3,NM_014208.3:c.3042T>C,NP_055023.2:p.Asp1014=,1014,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,0.359,0.00483871,EXAC_EAS_AF,DSPP
624961,4:88536863:A>G,88536863,NM_014208.3,NM_014208.3:c.3049A>G,NP_055023.2:p.Asn1017Asp,1017,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,1.814,\N,\N,DSPP
624962,4:88536864:ATAG>A,88536864,NM_014208.3,NM_014208.3:c.3055_3057del,NP_055023.2:p.Ser1019del,1017-1018,5/5,\N,Benign,\N,inframe_deletion,MODERATE,\N,\N,7.751,0.0053,1KG_AFR_AF,DSPP
624963,4:88536865:T>C,88536865,NM_014208.3,NM_014208.3:c.3051T>C,NP_055023.2:p.Asn1017=,1017,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,0.141,0.0023,1KG_AFR_AF,DSPP
624964,4:88536865:TAGTAGTGACAGCAGCAATAGC>T,88536865,NM_014208.3,NM_014208.3:c.3055_3075del,NP_055023.2:p.Ser1019_Ser1025del,1018-1024,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,8.69,\N,\N,DSPP
624965,4:88536868:T>A,88536868,NM_014208.3,NM_014208.3:c.3054T>A,NP_055023.2:p.Ser1018Arg,1018,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,3.814,0.00226244,EXAC_AFR_AF,DSPP
624966,4:88536868:T>C,88536868,NM_014208.3,NM_014208.3:c.3054T>C,NP_055023.2:p.Ser1018=,1018,5/5,\N,Benign,\N,synonymous_variant,LOW,\N,\N,0.307,0.0098,1KG_AFR_AF,DSPP
624967,4:88536868:TAGTGACAGCAGCAATAGC>T,88536868,NM_014208.3,NM_014208.3:c.3069_3086del,NP_055023.2:p.Asn1029_Ser1034del,1019-1024,5/5,\N,Benign,\N,inframe_deletion,MODERATE,\N,\N,8.655,0.697436,EXAC_AMR_AF,DSPP
624968,4:88536874:C>T,88536874,NM_014208.3,NM_014208.3:c.3060C>T,NP_055023.2:p.Asp1020=,1020,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,7.895,0.00371471,EXAC_AFR_AF,DSPP
624969,4:88536876:G>A,88536876,NM_014208.3,NM_014208.3:c.3062G>A,NP_055023.2:p.Ser1021Asn,1021,5/5,\N,Benign,\N,missense_variant,MODERATE,\N,\N,3.68,0.00531287,EXAC_AFR_AF,DSPP
624970,4:88536879:G>A,88536879,NM_014208.3,NM_014208.3:c.3065G>A,NP_055023.2:p.Ser1022Asn,1022,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,2.009,0.00472255,EXAC_AFR_AF,DSPP
624971,4:88536880:C>T,88536880,NM_014208.3,NM_014208.3:c.3066C>T,NP_055023.2:p.Ser1022=,1022,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,5.494,\N,\N,DSPP
624972,4:88536880:CAATA>C,88536880,NM_014208.3,NM_014208.3:c.3067_3070del,NP_055023.2:p.Asn1023AlafsTer290,1023-1024,5/5,\N,Unknown significance,\N,frameshift_variant,HIGH,\N,\N,24.5,\N,\N,DSPP
624973,4:88536880:CAATAGCAGT>C,88536880,NM_014208.3,NM_014208.3:c.3067_3075del,NP_055023.2:p.Asn1023_Ser1025del,1023-1025,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,8.374,\N,\N,DSPP
624974,4:88536881:AATAGCAGTG>A,88536881,NM_014208.3,NM_014208.3:c.3069_3077del,NP_055023.2:p.Asp1026_Ser1028del,1023-1026,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,\N,\N,\N,DSPP
624975,4:88536881:AATAGCAGTGACAGCAGCAACAGCAGTGACAGCAGCG>A,88536881,NM_014208.3,NM_014208.3:c.3085_3120del,NP_055023.2:p.Asn1029_Ser1040del,1023-1035,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,10.02,\N,\N,DSPP
624976,4:88536882:A>G,88536882,NM_014208.3,NM_014208.3:c.3068A>G,NP_055023.2:p.Asn1023Ser,1023,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,0.126,\N,\N,DSPP
624977,4:88536882:ATAG>A,88536882,NM_014208.3,NM_014208.3:c.3069_3071del,NP_055023.2:p.Ser1025del,1023-1024,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,7.818,\N,\N,DSPP
624978,4:88536882:ATAGCAGTGACAG>A,88536882,NM_014208.3,NM_014208.3:c.3069_3080del,NP_055023.2:p.Ser1025_Ser1028del,1023-1027,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,9.72,\N,\N,DSPP
624979,4:88536883:T>C,88536883,NM_014208.3,NM_014208.3:c.3069T>C,NP_055023.2:p.Asn1023=,1023,5/5,\N,Benign,\N,synonymous_variant,LOW,\N,\N,0.016,0.7781,1KG_AMR_AF,DSPP
624980,4:88536885:GCAGTGACAGCAGCA>G,88536885,NM_014208.3,NM_014208.3:c.3072_3085del,NP_055023.2:p.Ser1024ArgfsTer4,1024-1029,5/5,\N,Benign,\N,frameshift_variant,HIGH,\N,\N,25.9,0.0059453,EXAC_AFR_AF,DSPP
624981,4:88536886:C>T,88536886,NM_014208.3,NM_014208.3:c.3072C>T,NP_055023.2:p.Ser1024=,1024,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,8.345,\N,\N,DSPP
624982,4:88536887:A>G,88536887,NM_014208.3,NM_014208.3:c.3073A>G,NP_055023.2:p.Ser1025Gly,1025,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,0.91,\N,\N,DSPP
624983,4:88536890:GACAGCAGCA>G,88536890,NM_014208.3,NM_014208.3:c.3084_3092del,NP_055023.2:p.Asn1029_Ser1031del,1026-1029,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,9.85,\N,\N,DSPP
624984,4:88536892:CAGCAGCAACAGCAGTGACAGCAGCGAT>C,88536892,NM_014208.3,NM_014208.3:c.3084_3110del,NP_055023.2:p.Asn1029_Ser1037del,1027-1035,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,10.85,\N,\N,DSPP
624985,4:88536895:CAGCAACAGCAGTGACAGCAGCGAT>C,88536895,NM_014208.3,NM_014208.3:c.3086_3109del,NP_055023.2:p.Asn1029_Ser1036del,1028-1035,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,11.1,\N,\N,DSPP
624986,4:88536898:C>T,88536898,NM_014208.3,NM_014208.3:c.3084C>T,NP_055023.2:p.Ser1028=,1028,5/5,\N,Benign,\N,synonymous_variant,LOW,\N,\N,8.348,0.0399,1KG_SAS_AF,DSPP
624987,4:88536898:CAACAGCAGT>C,88536898,NM_014208.3,NM_014208.3:c.3085_3093del,NP_055023.2:p.Asn1029_Ser1031del,1029-1031,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,11.45,\N,\N,DSPP
624988,4:88536898:CAACAGCAGTGACAGCAGCGATAGCAGT>C,88536898,NM_014208.3,NM_014208.3:c.3085_3111del,NP_055023.2:p.Asn1029_Ser1037del,1029-1037,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,10.85,\N,\N,DSPP
624989,4:88536899:A>G,88536899,NM_014208.3,NM_014208.3:c.3085A>G,NP_055023.2:p.Asn1029Asp,1029,5/5,\N,Benign,\N,missense_variant,MODERATE,\N,\N,0.226,0.5072,1KG_AMR_AF,DSPP
624990,4:88536901:C>T,88536901,NM_014208.3,NM_014208.3:c.3087C>T,NP_055023.2:p.Asn1029=,1029,5/5,\N,Benign,\N,synonymous_variant,LOW,\N,\N,6.307,0.503,1KG_EUR_AF,DSPP
624991,4:88536901:CAGCAGTGACAGCAGCGAT>C,88536901,NM_014208.3,NM_014208.3:c.3138_3155del,NP_055023.2:p.Asp1050_Ser1055del,1030-1035,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,11.61,\N,\N,DSPP
624992,4:88536904:C>T,88536904,NM_014208.3,NM_014208.3:c.3090C>T,NP_055023.2:p.Ser1030=,1030,5/5,\N,Benign,\N,synonymous_variant,LOW,\N,\N,9.39,0.0399,1KG_SAS_AF,DSPP
624993,4:88536905:A>T,88536905,NM_014208.3,NM_014208.3:c.3091A>T,NP_055023.2:p.Ser1031Cys,1031,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,6.688,0.002,1KG_EUR_AF|1KG_SAS_AF,DSPP
624994,4:88536907:TGACAGCAGC>T,88536907,NM_014208.3,NM_014208.3:c.3096_3104del,NP_055023.2:p.Asp1053_Ser1055del,1032-1034,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,11.99,\N,\N,DSPP
624995,4:88536909:ACAG>A,88536909,NM_014208.3,NM_014208.3:c.3100_3102del,NP_055023.2:p.Ser1034del,1032-1033,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,12.78,\N,\N,DSPP
624996,4:88536910:CAGCAGCGAT>C,88536910,NM_014208.3,NM_014208.3:c.3102_3110del,NP_055023.2:p.Asp1053_Ser1055del,1033-1035,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,11.91,\N,\N,DSPP
624997,4:88536915:GCGA>G,88536915,NM_014208.3,NM_014208.3:c.3102_3104del,NP_055023.2:p.Asp1035del,1034-1035,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,7.364,\N,\N,DSPP
624998,4:88536916:C>T,88536916,NM_014208.3,NM_014208.3:c.3102C>T,NP_055023.2:p.Ser1034=,1034,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,11.77,\N,\N,DSPP
624999,4:88536917:G>A,88536917,NM_014208.3,NM_014208.3:c.3103G>A,NP_055023.2:p.Asp1035Asn,1035,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,10.63,\N,\N,DSPP
625000,4:88536918:ATAG>A,88536918,NM_014208.3,NM_014208.3:c.3105_3107del,NP_055023.2:p.Ser1037del,1035-1036,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,11.69,\N,\N,DSPP
625001,4:88536919:T>C,88536919,NM_014208.3,NM_014208.3:c.3105T>C,NP_055023.2:p.Asp1035=,1035,5/5,\N,Benign,\N,synonymous_variant,LOW,\N,\N,0.027,0.0184211,EXAC_AFR_AF,DSPP
625002,4:88536919:TAGCAGTGACAGCAGC>T,88536919,NM_014208.3,NM_014208.3:c.3106_3120del,NP_055023.2:p.Ser1036_Ser1040del,1036-1040,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,11.28,0.000294811,EXAC_SAS_AF,DSPP
625003,4:88536922:CAGTGACAGCAGCGAT>C,88536922,NM_014208.3,NM_014208.3:c.3111_3125del,NP_055023.2:p.Asp1038_Ser1042del,1037-1041,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,10.84,\N,\N,DSPP
625004,4:88536923:A>T,88536923,NM_014208.3,NM_014208.3:c.3109A>T,NP_055023.2:p.Ser1037Cys,1037,5/5,\N,Benign,\N,missense_variant,MODERATE,\N,\N,7.534,0.00543478,EXAC_OTH_AF,DSPP
625005,4:88536927:A>G,88536927,NM_014208.3,NM_014208.3:c.3113A>G,NP_055023.2:p.Asp1038Gly,1038,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,11.11,0.000260349,EXAC_SAS_AF,DSPP
625006,4:88536928:CAGCAGCGAT>C,88536928,NM_014208.3,NM_014208.3:c.3120_3128del,NP_055023.2:p.Asp1053_Ser1055del,1039-1041,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,11.18,\N,\N,DSPP
625007,4:88536928:CAGCAGCGATAGCAGTGACAGCAGCGAT>C,88536928,NM_014208.3,NM_014208.3:c.3120_3146del,NP_055023.2:p.Asp1047_Ser1055del,1039-1047,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,10.33,\N,\N,DSPP
625008,4:88536930:G>A,88536930,NM_014208.3,NM_014208.3:c.3116G>A,NP_055023.2:p.Ser1039Asn,1039,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,6.536,\N,\N,DSPP
625009,4:88536933:G>GTGA,88536933,NM_014208.3,NM_014208.3:c.3119_3120insTGA,NP_055023.2:p.Asp1041dup,1040,5/5,\N,Unknown significance,\N,inframe_insertion,MODERATE,\N,\N,3.709,\N,\N,DSPP
625010,4:88536934:C>CAGCAGCAATAGCAGT,88536934,NM_014208.3,NM_014208.3:c.3120_3121insAGCAGCAATAGCAGT,NP_055023.2:p.Ser1040_Asp1041insSerSerAsnSerSer,1040-1041,5/5,\N,Unknown significance,\N,inframe_insertion,MODERATE,\N,\N,1.472,0,EXAC_ALL_AF|EXAC_AFR_AF|EXAC_AMR_AF|EXAC_EAS_AF|EXAC_FIN_AF|EXAC_NFE_AF|EXAC_OTH_AF|EXAC_SAS_AF,DSPP
625011,4:88536934:C>T,88536934,NM_014208.3,NM_014208.3:c.3120C>T,NP_055023.2:p.Ser1040=,1040,5/5,\N,Benign,\N,synonymous_variant,LOW,\N,\N,11.5,0.0283019,EXAC_EAS_AF,DSPP
625012,4:88536935:G>A,88536935,NM_014208.3,NM_014208.3:c.3121G>A,NP_055023.2:p.Asp1041Asn,1041,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,11.28,0.000127975,EXAC_SAS_AF,DSPP
625013,4:88536937:T>TAGCAGTGAC,88536937,NM_014208.3,NM_014208.3:c.3129_3137dup,NP_055023.2:p.Asp1053_Ser1055dup,1041-1042,5/5,\N,Unknown significance,\N,inframe_insertion,MODERATE,\N,\N,\N,\N,\N,DSPP
625014,4:88536937:TAGCAGTGACAGCAGCGATAGCAGTGAC>T,88536937,NM_014208.3,NM_014208.3:c.3139_3165del,NP_055023.2:p.Asp1047_Ser1055del,1042-1050,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,10.42,\N,\N,DSPP
625015,4:88536942:GTGA>G,88536942,NM_014208.3,NM_014208.3:c.3129_3131del,NP_055023.2:p.Asp1044del,1043-1044,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,9.652,\N,\N,DSPP
625016,4:88536946:CAGCAGCGATAGCAGT>C,88536946,NM_014208.3,NM_014208.3:c.3133_3147del,NP_055023.2:p.Ser1045_Ser1049del,1045-1049,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,11.46,\N,\N,DSPP
625017,4:88536952:C>CGACAGCAGT,88536952,NM_014208.3,NM_014208.3:c.3140_3141insCAGCAGTGA,NP_055023.2:p.Asp1053_Ser1055dup,1046-1047,5/5,\N,Unknown significance,\N,inframe_insertion,MODERATE,\N,\N,\N,\N,\N,DSPP
625018,4:88536952:C>T,88536952,NM_014208.3,NM_014208.3:c.3138C>T,NP_055023.2:p.Ser1046=,1046,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,10.71,\N,\N,DSPP
625019,4:88536952:CGATAGCAGT>C,88536952,NM_014208.3,NM_014208.3:c.3141_3149del,NP_055023.2:p.Asp1053_Ser1055del,1047-1049,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,\N,\N,\N,DSPP
625020,4:88536952:CGATAGCAGTGACAGCAGT>C,88536952,NM_014208.3,NM_014208.3:c.3141_3158del,NP_055023.2:p.Asp1050_Ser1055del,1047-1052,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,11.29,\N,\N,DSPP
625021,4:88536953:G>A,88536953,NM_014208.3,NM_014208.3:c.3139G>A,NP_055023.2:p.Asp1047Asn,1047,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,4.575,0.00131544,EXAC_SAS_AF,DSPP
625022,4:88536955:T>C,88536955,NM_014208.3,NM_014208.3:c.3141T>C,NP_055023.2:p.Asp1047=,1047,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,0.043,\N,\N,DSPP
625023,4:88536955:TAGCAGTGAC>T,88536955,NM_014208.3,NM_014208.3:c.3156_3164del,NP_055023.2:p.Asp1053_Ser1055del,1048-1050,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,12.29,\N,\N,DSPP
625024,4:88536955:TAGCAGTGACAGCAGTGAC>T,88536955,NM_014208.3,NM_014208.3:c.3147_3164del,NP_055023.2:p.Asp1050_Ser1055del,1048-1053,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,11.59,\N,\N,DSPP
625025,4:88536960:G>A,88536960,NM_014208.3,NM_014208.3:c.3146G>A,NP_055023.2:p.Ser1049Asn,1049,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,10.08,0.0008,1KG_AFR_AF,DSPP
625026,4:88536961:T>C,88536961,NM_014208.3,NM_014208.3:c.3147T>C,NP_055023.2:p.Ser1049=,1049,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,0.393,0.000327225,EVS_AA_AF,DSPP
625027,4:88536961:T>TGACAGCAGTGACAGCAGCAATAGCAGTGACAGCAGTGACAGCAGC,88536961,NM_014208.3,NM_014208.3:c.3159_3203dup,NP_055023.2:p.Asn1056_Ser1070dup,1049-1050,5/5,\N,Unknown significance,\N,inframe_insertion,MODERATE,\N,\N,0.919,\N,\N,DSPP
625028,4:88536964:CAGCAGTGACAGCAGCAAT>C,88536964,NM_014208.3,NM_014208.3:c.3165_3182del,NP_055023.2:p.Asn1056_Ser1061del,1051-1056,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,11.09,\N,\N,DSPP
625029,4:88536966:GC>G,88536966,NM_014208.3,NM_014208.3:c.3153del,NP_055023.2:p.Ser1051ArgfsTer263,1051,5/5,\N,Pathogenic,Dentin dysplasia type II,frameshift_variant,HIGH,\N,\N,23.2,\N,\N,DSPP
625030,4:88536970:T>C,88536970,NM_014208.3,NM_014208.3:c.3156T>C,NP_055023.2:p.Ser1052=,1052,5/5,\N,Benign,\N,synonymous_variant,LOW,\N,\N,0.09,0.0539921,EVS_AA_AF,DSPP
625031,4:88536971:GACAGCAGCA>G,88536971,NM_014208.3,NM_014208.3:c.3159_3167del,NP_055023.2:p.Asn1056_Ser1058del,1053-1056,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,10.93,\N,\N,DSPP
625032,4:88536972:A>G,88536972,NM_014208.3,NM_014208.3:c.3158A>G,NP_055023.2:p.Asp1053Gly,1053,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,10.8,\N,\N,DSPP
625033,4:88536973:CAGCAGCAAT>C,88536973,NM_014208.3,NM_014208.3:c.3165_3173del,NP_055023.2:p.Asn1056_Ser1058del,1054-1056,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,10.93,\N,\N,DSPP
625034,4:88536979:C>CG,88536979,NM_014208.3,NM_014208.3:c.3165_3166insG,NP_055023.2:p.Asn1056GlufsTer2,1055-1056,5/5,\N,Unknown significance,\N,frameshift_variant,HIGH,\N,\N,17.54,\N,\N,DSPP
625035,4:88536979:C>T,88536979,NM_014208.3,NM_014208.3:c.3165C>T,NP_055023.2:p.Ser1055=,1055,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,4.323,\N,\N,DSPP
625036,4:88536980:A>ACAGCAGTG,88536980,NM_014208.3,NM_014208.3:c.3166_3167insCAGCAGTG,NP_055023.2:p.Asn1056ThrfsTer261,1056,5/5,\N,Unknown significance,\N,frameshift_variant,HIGH,\N,\N,23.7,0.000270783,EXAC_NFE_AF,DSPP
625037,4:88536980:A>G,88536980,NM_014208.3,NM_014208.3:c.3166A>G,NP_055023.2:p.Asn1056Asp,1056,5/5,\N,Benign,\N,missense_variant,MODERATE,\N,\N,0.015,0.0099,1KG_EAS_AF,DSPP
625038,4:88536981:A>T,88536981,NM_014208.3,NM_014208.3:c.3167A>T,NP_055023.2:p.Asn1056Ile,1056,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,7.109,0.000112259,EXAC_NFE_AF,DSPP
625039,4:88536988:T>C,88536988,NM_014208.3,NM_014208.3:c.3174T>C,NP_055023.2:p.Ser1058=,1058,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,0.04,0.000115367,EXAC_NFE_AF,DSPP
625040,4:88536990:A>G,88536990,NM_014208.3,NM_014208.3:c.3176A>G,NP_055023.2:p.Asp1059Gly,1059,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,7.01,0.00161603,EVS_AA_AF,DSPP
625041,4:88536997:T>C,88536997,NM_014208.3,NM_014208.3:c.3183T>C,NP_055023.2:p.Ser1061=,1061,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,0.044,0.000224517,EXAC_NFE_AF,DSPP
625042,4:88536999:A>ACAGCAGCGACAGCAGTGATAGCAGTGACAGCAGTGG,88536999,NM_014208.3,NM_014208.3:c.3220_3221insGCAGCAGCGACAGCAGTGATAGCAGTGACAGCAGTG,NP_055023.2:p.Ser1073_Asp1074insGlySerSerAspSerSerAspSerSerAspSerSer,1062,5/5,\N,Benign,\N,inframe_insertion,MODERATE,\N,\N,0.096,0.0166667,EXAC_OTH_AF,DSPP
625043,4:88536999:A>G,88536999,NM_014208.3,NM_014208.3:c.3185A>G,NP_055023.2:p.Asp1062Gly,1062,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,12.12,0.00189651,EXAC_SAS_AF,DSPP
625044,4:88537000:C>A,88537000,NM_014208.3,NM_014208.3:c.3186C>A,NP_055023.2:p.Asp1062Glu,1062,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,10.14,\N,\N,DSPP
625045,4:88537006:C>T,88537006,NM_014208.3,NM_014208.3:c.3192C>T,NP_055023.2:p.Ser1064=,1064,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,11.96,0.00492611,EXAC_AMR_AF,DSPP
625046,4:88537009:C>T,88537009,NM_014208.3,NM_014208.3:c.3195C>T,NP_055023.2:p.Asp1065=,1065,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,2.367,\N,\N,DSPP
625047,4:88537015:T>C,88537015,NM_014208.3,NM_014208.3:c.3201T>C,NP_055023.2:p.Ser1067=,1067,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,0.197,\N,\N,DSPP
625048,4:88537016:G>GACAGCAGCA,88537016,NM_014208.3,NM_014208.3:c.3203_3204insCAGCAGCAA,NP_055023.2:p.Ser1070_Asp1071insAsnSerSer,1068,5/5,\N,Unknown significance,\N,inframe_insertion,MODERATE,\N,\N,1.2,\N,\N,DSPP
625049,4:88537016:G>GATAGCAGTGACAGCAGTGACAGCAGCA,88537016,NM_014208.3,NM_014208.3:c.3228_3229insAATAGCAGTGACAGCAGTGACAGCAGC,NP_055023.2:p.Ser1076_Asp1077insAsnSerSerAspSerSerAspSerSer,1068,5/5,\N,Unknown significance,\N,inframe_insertion,MODERATE,\N,\N,0.26,\N,\N,DSPP
625050,4:88537018:T>C,88537018,NM_014208.3,NM_014208.3:c.3204T>C,NP_055023.2:p.Asp1068=,1068,5/5,\N,Benign,\N,synonymous_variant,LOW,\N,\N,0.011,0.0167018,EVS_EA_AF,DSPP
625051,4:88537026:ACAGCAGTGACAGCAGCGACAGCAGTGATAGCAGTGAAAGCAGTG>A,88537026,NM_014208.3,NM_014208.3:c.3213_3256del,NP_055023.2:p.Asp1071GlufsTer2,1071-1086,5/5,\N,Unknown significance,\N,frameshift_variant,HIGH,\N,\N,28.2,\N,\N,DSPP
625052,4:88537033:TGACAGCAGC>T,88537033,NM_014208.3,NM_014208.3:c.3228_3236del,NP_055023.2:p.Asp1080_Ser1082del,1074-1076,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,10.33,\N,\N,DSPP
625053,4:88537034:GACA>G,88537034,NM_014208.3,NM_014208.3:c.3221_3223del,NP_055023.2:p.Asp1074_Ser1075delinsGly,1074-1075,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,9.67,0.000112562,EXAC_NFE_AF,DSPP
625054,4:88537035:A>G,88537035,NM_014208.3,NM_014208.3:c.3221A>G,NP_055023.2:p.Asp1074Gly,1074,5/5,\N,Benign,\N,missense_variant,MODERATE,\N,\N,8.446,0.3,EXAC_FIN_AF,DSPP
625055,4:88537035:ACAGCAGCGACAGCAG>A,88537035,NM_014208.3,NM_014208.3:c.3222_3236del,NP_055023.2:p.Ser1075_Ser1079del,1074-1079,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,9.917,0.00446872,EXAC_AFR_AF,DSPP
625056,4:88537036:C>T,88537036,NM_014208.3,NM_014208.3:c.3222C>T,NP_055023.2:p.Asp1074=,1074,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,3.239,\N,\N,DSPP
625057,4:88537036:CAGCAGCGACAGCAGTGATAGCAGTGAAAGCAGTGAT>C,88537036,NM_014208.3,NM_014208.3:c.3228_3263del,NP_055023.2:p.Asp1080_Ser1091del,1075-1086,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,9.24,\N,\N,DSPP
625058,4:88537038:GCAGCGACAGCAGTGATAGCAGTGAAAGCAGTGATAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGACAGCAGCGATAGCAGTGACAGCAGCGATAGCAGTGACAGCAGTGACAGCAGCAATAGCAGTGACAGCAGTGA>G,88537038,NM_014208.3,NM_014208.3:c.3229_3387del,NP_055023.2:p.Asp1077_Ser1129del,1075-1128,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,9.955,0.00287069,EXAC_NFE_AF,DSPP
625059,4:88537043:G>A,88537043,NM_014208.3,NM_014208.3:c.3229G>A,NP_055023.2:p.Asp1077Asn,1077,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,9.662,0,EXAC_ALL_AF|EXAC_AFR_AF|EXAC_AMR_AF|EXAC_EAS_AF|EXAC_FIN_AF|EXAC_NFE_AF|EXAC_OTH_AF|EXAC_SAS_AF,DSPP
625060,4:88537043:GACAGCAGTGATAGCAGTGAAAGCAGTGATAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGACAGCAGCGATAGCAGTGACAGCAGCGATAGCAGTGACAGCAGTGACAGCAGCAATAGCAGTGACAGCAGTGACAGCAGCGACAGCAGTGATAGCAGTGACAGCAGCA>G,88537043,NM_014208.3,NM_014208.3:c.3240_3428del,NP_055023.2:p.Glu1083_Ser1145del,1077-1140,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,9.778,0.000115048,EXAC_NFE_AF,DSPP
625061,4:88537045:C>T,88537045,NM_014208.3,NM_014208.3:c.3231C>T,NP_055023.2:p.Asp1077=,1077,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,5.384,\N,\N,DSPP
625062,4:88537045:CAGCAGTGATAGCAGTGAA>C,88537045,NM_014208.3,NM_014208.3:c.3249_3266del,NP_055023.2:p.Glu1083_Ser1088del,1078-1083,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,11.16,\N,\N,DSPP
625063,4:88537048:CAGTGAT>C,88537048,NM_014208.3,NM_014208.3:c.3237_3242del,NP_055023.2:p.Asp1080_Ser1081del,1079-1080,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,9.96,\N,\N,DSPP
625064,4:88537051:T>C,88537051,NM_014208.3,NM_014208.3:c.3237T>C,NP_055023.2:p.Ser1079=,1079,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,0.068,\N,\N,DSPP
625065,4:88537052:GATAGCAGTGAAAGCAGTGATAGCAGTGACAGCAGCA>G,88537052,NM_014208.3,NM_014208.3:c.3249_3284del,NP_055023.2:p.Glu1083_Ser1094del,1080-1092,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,9.515,\N,\N,DSPP
625066,4:88537054:T>C,88537054,NM_014208.3,NM_014208.3:c.3240T>C,NP_055023.2:p.Asp1080=,1080,5/5,\N,Benign,\N,synonymous_variant,LOW,\N,\N,0.022,0.0392157,EXAC_OTH_AF,DSPP
625067,4:88537057:CAGT>C,88537057,NM_014208.3,NM_014208.3:c.3244_3246del,NP_055023.2:p.Ser1082del,1082,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,10.81,\N,\N,DSPP
625068,4:88537057:CAGTGAA>C,88537057,NM_014208.3,NM_014208.3:c.3246_3251del,NP_055023.2:p.Glu1083_Ser1084del,1082-1083,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,10.97,\N,\N,DSPP
625069,4:88537057:CAGTGAAAGCAGT>C,88537057,NM_014208.3,NM_014208.3:c.3244_3255del,NP_055023.2:p.Ser1082_Ser1085del,1082-1085,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,10.59,\N,\N,DSPP
625070,4:88537060:T>C,88537060,NM_014208.3,NM_014208.3:c.3246T>C,NP_055023.2:p.Ser1082=,1082,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,0.329,\N,\N,DSPP
625071,4:88537060:TG>T,88537060,NM_014208.3,NM_014208.3:c.3247del,NP_055023.2:p.Glu1083LysfsTer231,1083,5/5,\N,Unknown significance,\N,frameshift_variant,HIGH,\N,\N,29.5,\N,\N,DSPP
625072,4:88537062:A>AC,88537062,NM_014208.3,NM_014208.3:c.3248_3249insC,NP_055023.2:p.Glu1083AspfsTer4,1083,5/5,\N,Unknown significance,\N,frameshift_variant,HIGH,\N,\N,25.9,\N,\N,DSPP
625073,4:88537062:AAAG>A,88537062,NM_014208.3,NM_014208.3:c.3249_3251del,NP_055023.2:p.Glu1083_Ser1084delinsAsp,1083-1084,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,2.544,\N,\N,DSPP
625074,4:88537062:AAAGCAGTG>A,88537062,NM_014208.3,NM_014208.3:c.3250_3257del,NP_055023.2:p.Ser1084Ter,1083-1086,5/5,\N,Unknown significance,\N,frameshift_variant,HIGH,\N,\N,28.4,\N,\N,DSPP
625075,4:88537063:A>AGCAGTGGCAGCAGCGAC,88537063,NM_014208.3,NM_014208.3:c.3249_3250insGCAGTGGCAGCAGCGAC,NP_055023.2:p.Ser1084AlafsTer236,1083-1084,5/5,\N,Unknown significance,\N,frameshift_variant,HIGH,\N,\N,24.9,\N,\N,DSPP
625076,4:88537063:A>C,88537063,NM_014208.3,NM_014208.3:c.3249A>C,NP_055023.2:p.Glu1083Asp,1083,5/5,\N,Benign,\N,missense_variant,MODERATE,\N,\N,6.281,0.7014,1KG_EAS_AF,DSPP
625077,4:88537063:A>T,88537063,NM_014208.3,NM_014208.3:c.3249A>T,NP_055023.2:p.Glu1083Asp,1083,5/5,\N,Benign,\N,missense_variant,MODERATE,\N,\N,7.339,0.0265,1KG_AFR_AF,DSPP
625078,4:88537068:G>GCGACAGCAGCGA,88537068,NM_014208.3,NM_014208.3:c.3254_3255insCGACAGCAGCGA,NP_055023.2:p.Asp1086_Asp1089dup,1085,5/5,\N,Unknown significance,\N,inframe_insertion,MODERATE,\N,\N,0.567,0.0019305,EXAC_AFR_AF,DSPP
625079,4:88537070:GATA>G,88537070,NM_014208.3,NM_014208.3:c.3257_3259del,NP_055023.2:p.Asp1086_Ser1087delinsGly,1086-1087,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,9.242,\N,\N,DSPP
625080,4:88537071:AT>A,88537071,NM_014208.3,NM_014208.3:c.3258del,NP_055023.2:p.Asp1086GlufsTer228,1086,5/5,\N,Unknown significance,\N,frameshift_variant,HIGH,\N,\N,22.6,\N,\N,DSPP
625081,4:88537072:T>C,88537072,NM_014208.3,NM_014208.3:c.3258T>C,NP_055023.2:p.Asp1086=,1086,5/5,\N,Benign,\N,synonymous_variant,LOW,\N,\N,0.048,0.0401,1KG_AFR_AF,DSPP
625082,4:88537072:T>TAGCAGTGAC,88537072,NM_014208.3,NM_014208.3:c.3264_3272dup,NP_055023.2:p.Asp1089_Ser1091dup,1086-1087,5/5,\N,Unknown significance,\N,inframe_insertion,MODERATE,\N,\N,\N,\N,\N,DSPP
625083,4:88537072:TAGCAGTGAC>T,88537072,NM_014208.3,NM_014208.3:c.3264_3272del,NP_055023.2:p.Asp1089_Ser1091del,1087-1089,5/5,\N,Benign,\N,inframe_deletion,MODERATE,\N,\N,9.017,0.6427,1KG_AMR_AF,DSPP
625084,4:88537072:TAGCAGTGACAGCAGCAATAGCAGTGAC>T,88537072,NM_014208.3,NM_014208.3:c.3264_3290del,NP_055023.2:p.Asn1092_Ser1100del,1087-1095,5/5,\N,Benign,\N,inframe_deletion,MODERATE,\N,\N,\N,0.0416667,EXAC_FIN_AF,DSPP
625085,4:88537072:TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC>T,88537072,NM_014208.3,NM_014208.3:c.3264_3317del,NP_055023.2:p.Asn1092_Ser1109del,1087-1104,5/5,\N,Benign,\N,inframe_deletion,MODERATE,\N,\N,7.206,0.625,EXAC_FIN_AF,DSPP
625086,4:88537072:T>TAGCAGCGAC,88537072,NM_014208.3,NM_014208.3:c.3263_3264insCGACAGCAG,NP_055023.2:p.Asp1089_Ser1091dup,1086-1087,5/5,\N,Unknown significance,\N,inframe_insertion,MODERATE,\N,\N,\N,0.00242718,EXAC_EAS_AF,DSPP
625087,4:88537072:T>TAGCAGCGATAGCAGTGACAGCAGCGACAGCAGTGACAGCAGTGACAGCAGTGAAAGCAGCGACAGCAGCGATAGCAGCGAC,88537072,NM_014208.3,NM_014208.3:c.3263_3264insCGATAGCAGTGACAGCAGCGACAGCAGTGACAGCAGTGACAGCAGTGAAAGCAGCGACAGCAGCGATAGCAGCGACAGCAG,NP_055023.2:p.Ser1091_Asn1092insAspSerSerAspSerSerAspSerSerAspSerSerGluSerSerAspSerSerAspSerSerAspSerSerAspSerSer,1086-1087,5/5,\N,Benign,\N,inframe_insertion,MODERATE,\N,\N,\N,0.165049,EXAC_EAS_AF,DSPP
625088,4:88537072:TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGACAGC>T,88537072,NM_014208.3,NM_014208.3:c.3262_3318del,NP_055023.2:p.Ser1088_Ser1106del,1087-1105,5/5,\N,Benign,\N,inframe_deletion,MODERATE,\N,\N,7.19,0.00819403,EXAC_SAS_AF,DSPP
625089,4:88537073:AGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGAC>A,88537073,NM_014208.3,NM_014208.3:c.3260_3303del,NP_055023.2:p.Ser1087LysfsTer7,1087-1101,5/5,\N,Unknown significance,\N,frameshift_variant,HIGH,\N,\N,27.2,\N,\N,DSPP
625090,4:88537075:C>T,88537075,NM_014208.3,NM_014208.3:c.3261C>T,NP_055023.2:p.Ser1087=,1087,5/5,\N,Benign,\N,synonymous_variant,LOW,\N,\N,8.644,0.0069,1KG_EAS_AF,DSPP
625091,4:88537075:CA>C,88537075,NM_014208.3,NM_014208.3:c.3262del,NP_055023.2:p.Ser1088ValfsTer226,1088,5/5,\N,Unknown significance,\N,frameshift_variant,HIGH,\N,\N,24.4,\N,\N,DSPP
625092,4:88537075:CAGT>C,88537075,NM_014208.3,NM_014208.3:c.3262_3264del,NP_055023.2:p.Ser1088del,1088,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,7.372,\N,\N,DSPP
625093,4:88537075:CAGTGACAGCAGCAATAGCAGT>C,88537075,NM_014208.3,NM_014208.3:c.3262_3282del,NP_055023.2:p.Ser1088_Ser1094del,1088-1094,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,7.667,\N,\N,DSPP
625094,4:88537075:CAGTGACAGCAGCAATAGCAGTGACAGCAGCGAT>C,88537075,NM_014208.3,NM_014208.3:c.3264_3296del,NP_055023.2:p.Asp1089_Ser1099del,1088-1098,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,7.773,\N,\N,DSPP
625095,4:88537077:GTGA>G,88537077,NM_014208.3,NM_014208.3:c.3264_3266del,NP_055023.2:p.Asp1089del,1088-1089,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,5.368,0,EXAC_ALL_AF|EXAC_AFR_AF|EXAC_AMR_AF|EXAC_EAS_AF|EXAC_FIN_AF|EXAC_NFE_AF|EXAC_OTH_AF|EXAC_SAS_AF,DSPP
625096,4:88537077:GTGACAGCAGCA>G,88537077,NM_014208.3,NM_014208.3:c.3264_3274del,NP_055023.2:p.Ser1088ArgfsTer2,1088-1092,5/5,\N,Unknown significance,\N,frameshift_variant,HIGH,\N,\N,25.1,0.003861,EXAC_AFR_AF,DSPP
625097,4:88537078:T>C,88537078,NM_014208.3,NM_014208.3:c.3264T>C,NP_055023.2:p.Ser1088=,1088,5/5,\N,Benign,\N,synonymous_variant,LOW,\N,\N,0.043,0.27,1KG_AFR_AF,DSPP
625098,4:88537078:T>TCGATAGCAA,88537078,NM_014208.3,NM_014208.3:c.3264_3265insCGATAGCAA,NP_055023.2:p.Ser1088_Asp1089insArgTerGln,1088-1089,5/5,\N,Likely pathogenic,Deafness,stop_gained&inframe_insertion,HIGH,\N,\N,25.8,\N,\N,DSPP
625099,4:88537079:GACAGCAGCA>G,88537079,NM_014208.3,NM_014208.3:c.3267_3275del,NP_055023.2:p.Asn1092_Ser1094del,1089-1092,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,8.422,\N,\N,DSPP
625100,4:88537080:A>AAAG,88537080,NM_014208.3,NM_014208.3:c.3266_3267insAAG,NP_055023.2:p.Asp1089delinsGluSer,1089,5/5,\N,Benign,\N,protein_altering_variant,MODERATE,\N,\N,0.092,0.0266667,EXAC_EAS_AF,DSPP
625101,4:88537081:C>T,88537081,NM_014208.3,NM_014208.3:c.3267C>T,NP_055023.2:p.Asp1089=,1089,5/5,\N,Benign,\N,synonymous_variant,LOW,\N,\N,6.343,0.661722,EVS_AA_AF,DSPP
625102,4:88537081:CAGCAGCAAT>C,88537081,NM_014208.3,NM_014208.3:c.3273_3281del,NP_055023.2:p.Asn1092_Ser1094del,1090-1092,5/5,\N,Benign,\N,inframe_deletion,MODERATE,\N,\N,\N,0.00840807,EXAC_SAS_AF,DSPP
625103,4:88537081:CAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGACAGCAGCGAT>C,88537081,NM_014208.3,NM_014208.3:c.3273_3326del,NP_055023.2:p.Asn1092_Ser1109del,1090-1107,5/5,\N,Benign,\N,inframe_deletion,MODERATE,\N,\N,6.928,0.0212121,EXAC_AFR_AF,DSPP
625104,4:88537081:C>A,88537081,NM_014208.3,NM_014208.3:c.3267C>A,NP_055023.2:p.Asp1089Glu,1089,5/5,\N,Benign,\N,missense_variant,MODERATE,\N,\N,7.249,0.0151515,EXAC_AFR_AF,DSPP
625105,4:88537084:C>CAGTGAT,88537084,NM_014208.3,NM_014208.3:c.3272_3273insTGATAG,NP_055023.2:p.Ser1091_Asn1092insAspSer,1090-1091,5/5,\N,Unknown significance,\N,inframe_insertion,MODERATE,\N,\N,1.041,0.000385654,EXAC_NFE_AF,DSPP
625106,4:88537084:CAGCAATAGCAGT>C,88537084,NM_014208.3,NM_014208.3:c.3271_3282del,NP_055023.2:p.Ser1091_Ser1094del,1091-1094,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,8.231,0,EXAC_ALL_AF|EXAC_AFR_AF|EXAC_AMR_AF|EXAC_EAS_AF|EXAC_FIN_AF|EXAC_NFE_AF|EXAC_OTH_AF|EXAC_SAS_AF,DSPP
625107,4:88537086:G>GT,88537086,NM_014208.3,NM_014208.3:c.3272_3273insT,NP_055023.2:p.Asn1092GlnfsTer2,1091,5/5,\N,Benign,\N,frameshift_variant,HIGH,\N,\N,24.1,0.0236014,EXAC_AFR_AF,DSPP
625108,4:88537087:C>T,88537087,NM_014208.3,NM_014208.3:c.3273C>T,NP_055023.2:p.Ser1091=,1091,5/5,\N,Benign,\N,synonymous_variant,LOW,\N,\N,7.218,0.1944,1KG_EAS_AF,DSPP
625109,4:88537088:A>ACAGCAGTG,88537088,NM_014208.3,NM_014208.3:c.3274_3275insCAGCAGTG,NP_055023.2:p.Asn1092ThrfsTer225,1092,5/5,\N,Unknown significance,\N,frameshift_variant,HIGH,\N,\N,23.4,\N,\N,DSPP
625110,4:88537088:A>ACAGCAGTGACAGCAGTGACAGCAGTGAAAGCAGCGACAGCAGCG,88537088,NM_014208.3,NM_014208.3:c.3274_3275insCAGCAGTGACAGCAGTGACAGCAGTGAAAGCAGCGACAGCAGCG,NP_055023.2:p.Asn1092ThrfsTer237,1092,5/5,\N,Unknown significance,\N,frameshift_variant,HIGH,\N,\N,22.8,\N,\N,DSPP
625111,4:88537088:A>AGCG,88537088,NM_014208.3,NM_014208.3:c.3274_3275insGCG,NP_055023.2:p.Asn1092delinsSerAsp,1092,5/5,\N,Unknown significance,\N,protein_altering_variant,MODERATE,\N,\N,0.028,\N,\N,DSPP
625112,4:88537088:A>G,88537088,NM_014208.3,NM_014208.3:c.3274A>G,NP_055023.2:p.Asn1092Asp,1092,5/5,\N,Benign,\N,missense_variant,MODERATE,\N,\N,0.183,0.8207,1KG_AFR_AF,DSPP
625113,4:88537090:T>C,88537090,NM_014208.3,NM_014208.3:c.3276T>C,NP_055023.2:p.Asn1092=,1092,5/5,\N,Benign,\N,synonymous_variant,LOW,\N,\N,0.012,0.513043,EXAC_EAS_AF,DSPP
625114,4:88537090:T>A,88537090,NM_014208.3,NM_014208.3:c.3276T>A,NP_055023.2:p.Asn1092Lys,1092,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,0.062,0.00487567,EXAC_SAS_AF,DSPP
625115,4:88537090:T>TAGCAGCGACAGCAGTGACAGCAGCGAC,88537090,NM_014208.3,NM_014208.3:c.3281_3282insCGACAGCAGTGACAGCAGCGACAGCAG,NP_055023.2:p.Asp1113_Ser1121dup,1092-1093,5/5,\N,Benign,\N,inframe_insertion,MODERATE,\N,\N,\N,0.0181818,EXAC_AFR_AF,DSPP
625116,4:88537090:TAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC>T,88537090,NM_014208.3,NM_014208.3:c.3282_3317del,NP_055023.2:p.Asp1110_Ser1121del,1093-1104,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,8.222,0.000324886,EXAC_NFE_AF,DSPP
625117,4:88537090:T>TAGCAGTGACAGCAGCGACAGCAGTGACAGCAGTGACAGCAGTGAAAGCAGCGACAGCAGCGATAGCAGCGACAGCAGTGACAGCAGCGAC,88537090,NM_014208.3,NM_014208.3:c.3293_3294insCAGCAGTGACAGCAGTGACAGCAGTGAAAGCAGCGACAGCAGCGATAGCAGCGACAGCAGTGACAGCAGCGACAGCAGTGACAGCAGCGA,NP_055023.2:p.Ser1106_Asp1107insGluSerSerAspSerSerAspSerSerAspSerSerAspSerSerAspSerSerAspSerSerAspSerSerAspSerSerAspSerSer,1092-1093,5/5,\N,Unknown significance,\N,inframe_insertion,MODERATE,\N,\N,\N,0.000324886,EXAC_NFE_AF,DSPP
625118,4:88537090:T>TAGCAGTGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGTGAAAGCAGCGACAGCAGCGATAGCAGCGACAGCAGTGACAGCAGCGAC,88537090,NM_014208.3,NM_014208.3:c.3293_3294insCAGCAGTGACAGCAGCGACAGCAGTGAAAGCAGCGACAGCAGCGATAGCAGCGACAGCAGTGACAGCAGCGACAGCAGTGACAGCAGCGA,NP_055023.2:p.Ser1106_Asp1107insGluSerSerAspSerSerAspSerSerAspSerSerAspSerSerAspSerSerAspSerSerAspSerSerAspSerSerAspSerSer,1092-1093,5/5,\N,Unknown significance,\N,inframe_insertion,MODERATE,\N,\N,\N,0.000324886,EXAC_NFE_AF,DSPP
625119,4:88537093:C>T,88537093,NM_014208.3,NM_014208.3:c.3279C>T,NP_055023.2:p.Ser1093=,1093,5/5,\N,Benign,\N,synonymous_variant,LOW,\N,\N,7.931,0.0195122,EXAC_EAS_AF,DSPP
625120,4:88537096:T>C,88537096,NM_014208.3,NM_014208.3:c.3282T>C,NP_055023.2:p.Ser1094=,1094,5/5,\N,Benign,\N,synonymous_variant,LOW,\N,\N,0.088,0.0131579,EXAC_AMR_AF,DSPP
625121,4:88537096:T>TGACAGCAGTGACAGCAGTGAAAGCAGC,88537096,NM_014208.3,NM_014208.3:c.3290_3291insTGACAGCAGTGAAAGCAGCGACAGCAG,NP_055023.2:p.Ser1100_Asp1101insGluSerSerAspSerSerAspSerSer,1094-1095,5/5,\N,Benign,\N,inframe_insertion,MODERATE,\N,\N,0.013,0.118421,EXAC_AMR_AF,DSPP
625122,4:88537096:TGACAGCAGCGATAGCAGCGACAGCAGCGACAGCAGCGATAGCAGTGACAGCAGCGATAGCAGTGACAGC>T,88537096,NM_014208.3,NM_014208.3:c.3283_3351del,NP_055023.2:p.Asp1095_Ser1117del,1095-1117,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,9.623,0.000254842,EXAC_SAS_AF,DSPP
625123,4:88537096:T>TGACAGCAGTGACAGCAGTGAAAGCAGCGACAGCAGCGATAGCAGCGACAGCAGTGACAGCAGCGACAGCAGC,88537096,NM_014208.3,NM_014208.3:c.3290_3291insTGACAGCAGTGAAAGCAGCGACAGCAGCGATAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAG,NP_055023.2:p.Ser1100_Asp1101insGluSerSerAspSerSerAspSerSerAspSerSerAspSerSerAspSerSerAspSerSerAspSerSer,1094-1095,5/5,\N,Benign,\N,inframe_insertion,MODERATE,\N,\N,\N,0.0142857,EXAC_EAS_AF,DSPP
625124,4:88537096:TGACAGCAGCGATAGCAGCGACAGCAGCGACAGCAGCGATAGCAGTGACAGCAGC>T,88537096,NM_014208.3,NM_014208.3:c.3285_3338del,NP_055023.2:p.Asp1104_Ser1121del,1095-1112,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,\N,0.000254842,EXAC_SAS_AF,DSPP
625125,4:88537098:A>G,88537098,NM_014208.3,NM_014208.3:c.3284A>G,NP_055023.2:p.Asp1095Gly,1095,5/5,\N,Benign,\N,missense_variant,MODERATE,\N,\N,4.309,0.0113636,EXAC_EAS_AF,DSPP
625126,4:88537099:CAGCAGCGAT>C,88537099,NM_014208.3,NM_014208.3:c.3294_3302del,NP_055023.2:p.Asp1119_Ser1121del,1096-1098,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,9.623,\N,\N,DSPP
625127,4:88537099:CAGCAGCGATAGCAGCGACAGCAGCGACAGCAGCGAT>C,88537099,NM_014208.3,NM_014208.3:c.3291_3326del,NP_055023.2:p.Asp1110_Ser1121del,1096-1107,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,8.275,\N,\N,DSPP
625128,4:88537104:GCGA>G,88537104,NM_014208.3,NM_014208.3:c.3291_3293del,NP_055023.2:p.Asp1098del,1097-1098,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,7.113,\N,\N,DSPP
625129,4:88537105:C>T,88537105,NM_014208.3,NM_014208.3:c.3291C>T,NP_055023.2:p.Ser1097=,1097,5/5,\N,Benign,\N,synonymous_variant,LOW,\N,\N,11.56,0.2536,1KG_AMR_AF,DSPP
625130,4:88537107:A>ACAGCAG,88537107,NM_014208.3,NM_014208.3:c.3293_3294insCAGCAG,NP_055023.2:p.Ser1099_Ser1100dup,1098,5/5,\N,Benign,\N,inframe_insertion,MODERATE,\N,\N,0.353,0.0125786,EXAC_AFR_AF,DSPP
625131,4:88537108:T>C,88537108,NM_014208.3,NM_014208.3:c.3294T>C,NP_055023.2:p.Asp1098=,1098,5/5,\N,Benign,\N,synonymous_variant,LOW,\N,\N,0.009,0.6732,1KG_AFR_AF,DSPP
625132,4:88537108:T>TAGCAGCGAC,88537108,NM_014208.3,NM_014208.3:c.3312_3320dup,NP_055023.2:p.Asp1119_Ser1121dup,1098-1099,5/5,\N,Unknown significance,\N,inframe_insertion,MODERATE,\N,\N,\N,\N,\N,DSPP
625133,4:88537108:T>TAGCAGCGACAGCAGTGAC,88537108,NM_014208.3,NM_014208.3:c.3308_3309insTGACAGCAGCGACAGCAG,NP_055023.2:p.Asp1116_Ser1121dup,1098-1099,5/5,\N,Unknown significance,\N,inframe_insertion,MODERATE,\N,\N,0.832,\N,\N,DSPP
625134,4:88537108:TAGC>T,88537108,NM_014208.3,NM_014208.3:c.3298_3300del,NP_055023.2:p.Ser1100del,1099,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,\N,\N,\N,DSPP
625135,4:88537108:TAGCAGC>T,88537108,NM_014208.3,NM_014208.3:c.3295_3300del,NP_055023.2:p.Ser1099_Ser1100del,1099-1100,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,10.8,\N,\N,DSPP
625136,4:88537108:TAGCAGCGAC>T,88537108,NM_014208.3,NM_014208.3:c.3312_3320del,NP_055023.2:p.Asp1119_Ser1121del,1099-1101,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,10.55,\N,\N,DSPP
625137,4:88537114:C>CGACAGCAGTGACAGCAGA,88537114,NM_014208.3,NM_014208.3:c.3308_3309insTGACAGCAGAGACAGCAG,NP_055023.2:p.Ser1105_Ser1106insArgAspSerSerAspSer,1100-1101,5/5,\N,Unknown significance,\N,inframe_insertion,MODERATE,\N,\N,0.48,\N,\N,DSPP
625138,4:88537114:C>T,88537114,NM_014208.3,NM_014208.3:c.3300C>T,NP_055023.2:p.Ser1100=,1100,5/5,\N,Benign,\N,synonymous_variant,LOW,\N,\N,11.75,0.5416,1KG_AFR_AF,DSPP
625139,4:88537115:G>A,88537115,NM_014208.3,NM_014208.3:c.3301G>A,NP_055023.2:p.Asp1101Asn,1101,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,9.95,0.0038,1KG_AFR_AF,DSPP
625140,4:88537116:AC>A,88537116,NM_014208.3,NM_014208.3:c.3303del,NP_055023.2:p.Asp1101GlufsTer213,1101,5/5,\N,Unknown significance,\N,frameshift_variant,HIGH,\N,\N,18.01,\N,\N,DSPP
625141,4:88537117:C>A,88537117,NM_014208.3,NM_014208.3:c.3303C>A,NP_055023.2:p.Asp1101Glu,1101,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,0.514,\N,\N,DSPP
625142,4:88537117:C>T,88537117,NM_014208.3,NM_014208.3:c.3303C>T,NP_055023.2:p.Asp1101=,1101,5/5,\N,Benign,\N,synonymous_variant,LOW,\N,\N,1.205,0.1646,1KG_SAS_AF,DSPP
625143,4:88537117:CAGCAGCGACAGCAGCGAT>C,88537117,NM_014208.3,NM_014208.3:c.3309_3326del,NP_055023.2:p.Asp1116_Ser1121del,1102-1107,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,9.702,\N,\N,DSPP
625144,4:88537123:C>T,88537123,NM_014208.3,NM_014208.3:c.3309C>T,NP_055023.2:p.Ser1103=,1103,5/5,\N,Benign,\N,synonymous_variant,LOW,\N,\N,11.25,0.6254,1KG_AMR_AF,DSPP
625145,4:88537123:CGACAGCAGCGATAGCAGT>C,88537123,NM_014208.3,NM_014208.3:c.3336_3353del,NP_055023.2:p.Asp1116_Ser1121del,1104-1109,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,10.2,\N,\N,DSPP
625146,4:88537126:C>T,88537126,NM_014208.3,NM_014208.3:c.3312C>T,NP_055023.2:p.Asp1104=,1104,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,5.044,\N,\N,DSPP
625147,4:88537126:CAGCAGCGAT>C,88537126,NM_014208.3,NM_014208.3:c.3318_3326del,NP_055023.2:p.Asp1119_Ser1121del,1105-1107,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,10.47,\N,\N,DSPP
625148,4:88537132:C>T,88537132,NM_014208.3,NM_014208.3:c.3318C>T,NP_055023.2:p.Ser1106=,1106,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,12.83,\N,\N,DSPP
625149,4:88537132:CGATAGCAGT>C,88537132,NM_014208.3,NM_014208.3:c.3321_3329del,NP_055023.2:p.Asp1119_Ser1121del,1107-1109,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,10.37,\N,\N,DSPP
625150,4:88537135:T>C,88537135,NM_014208.3,NM_014208.3:c.3321T>C,NP_055023.2:p.Asp1107=,1107,5/5,\N,Benign,\N,synonymous_variant,LOW,\N,\N,0.015,0.3313,1KG_EAS_AF,DSPP
625151,4:88537139:A>C,88537139,NM_014208.3,NM_014208.3:c.3325A>C,NP_055023.2:p.Ser1109Arg,1109,5/5,\N,Benign,\N,missense_variant,MODERATE,\N,\N,7.903,0.0128205,EXAC_OTH_AF,DSPP
625152,4:88537140:G>A,88537140,NM_014208.3,NM_014208.3:c.3326G>A,NP_055023.2:p.Ser1109Asn,1109,5/5,\N,Benign,\N,missense_variant,MODERATE,\N,\N,3.848,0.0114504,EXAC_EAS_AF,DSPP
625153,4:88537141:T>C,88537141,NM_014208.3,NM_014208.3:c.3327T>C,NP_055023.2:p.Ser1109=,1109,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,0.05,\N,\N,DSPP
625154,4:88537144:C>T,88537144,NM_014208.3,NM_014208.3:c.3330C>T,NP_055023.2:p.Asp1110=,1110,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,6.969,0.00330033,EXAC_AFR_AF,DSPP
625155,4:88537144:CAGCAGCGAT>C,88537144,NM_014208.3,NM_014208.3:c.3336_3344del,NP_055023.2:p.Asp1119_Ser1121del,1111-1113,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,9.41,0.00412541,EXAC_AFR_AF,DSPP
625156,4:88537144:C>A,88537144,NM_014208.3,NM_014208.3:c.3330C>A,NP_055023.2:p.Asp1110Glu,1110,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,8.131,0.000160565,EXAC_NFE_AF,DSPP
625157,4:88537150:C>T,88537150,NM_014208.3,NM_014208.3:c.3336C>T,NP_055023.2:p.Ser1112=,1112,5/5,\N,Benign,\N,synonymous_variant,LOW,\N,\N,12.98,0.2356,1KG_EUR_AF,DSPP
625158,4:88537150:CGATAGCAGT>C,88537150,NM_014208.3,NM_014208.3:c.3339_3347del,NP_055023.2:p.Asp1119_Ser1121del,1113-1115,5/5,\N,Benign,\N,inframe_deletion,MODERATE,\N,\N,12.58,0.3,EXAC_FIN_AF,DSPP
625159,4:88537150:CGATAGCAGTGACAGCAGTGACAGCAGCAATAGCAGTGACAGCAGTGACAGCAGCGACAGCAGTGATAGCAGTGACAGCAGCAACAGCAGT>C,88537150,NM_014208.3,NM_014208.3:c.3339_3428del,NP_055023.2:p.Asp1119_Ser1148del,1113-1142,5/5,\N,Benign,\N,inframe_deletion,MODERATE,\N,\N,9.787,0.0183983,EXAC_AFR_AF,DSPP
625160,4:88537150:CGATAGCAGTGACAGCAGTGACAGCAGCAATAGCAGT>C,88537150,NM_014208.3,NM_014208.3:c.3339_3374del,NP_055023.2:p.Asn1122_Ser1133del,1113-1124,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,\N,0.00108225,EXAC_AFR_AF,DSPP
625161,4:88537151:G>A,88537151,NM_014208.3,NM_014208.3:c.3337G>A,NP_055023.2:p.Asp1113Asn,1113,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,8.151,\N,\N,DSPP
625162,4:88537153:T>C,88537153,NM_014208.3,NM_014208.3:c.3339T>C,NP_055023.2:p.Asp1113=,1113,5/5,\N,Benign,\N,synonymous_variant,LOW,\N,\N,0.005,0.3141,1KG_EUR_AF,DSPP
625163,4:88537153:TAGCAGTGAC>T,88537153,NM_014208.3,NM_014208.3:c.3354_3362del,NP_055023.2:p.Asp1119_Ser1121del,1114-1116,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,\N,\N,\N,DSPP
625164,4:88537156:CAGTGACAGCAGTGACAGCAGCAATAGCAGTGACAGCAGTGACAGCAGCGACAGCAGT>C,88537156,NM_014208.3,NM_014208.3:c.3343_3399del,NP_055023.2:p.Ser1115_Ser1133del,1115-1133,5/5,\N,Benign,\N,inframe_deletion,MODERATE,\N,\N,9.724,0.037037,EXAC_AMR_AF,DSPP
625165,4:88537159:T>C,88537159,NM_014208.3,NM_014208.3:c.3345T>C,NP_055023.2:p.Ser1115=,1115,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,0.771,\N,\N,DSPP
625166,4:88537159:T>TGACAGCAGTGACAGCAGCAATAGCAGTGACAGCAGTGACAGCAGC,88537159,NM_014208.3,NM_014208.3:c.3357_3401dup,NP_055023.2:p.Asn1122_Ser1136dup,1115-1116,5/5,\N,Unknown significance,\N,inframe_insertion,MODERATE,\N,\N,2.309,\N,\N,DSPP
625167,4:88537160:G>A,88537160,NM_014208.3,NM_014208.3:c.3346G>A,NP_055023.2:p.Asp1116Asn,1116,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,15.13,\N,\N,DSPP
625168,4:88537161:A>G,88537161,NM_014208.3,NM_014208.3:c.3347A>G,NP_055023.2:p.Asp1116Gly,1116,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,13.56,\N,\N,DSPP
625169,4:88537162:C>A,88537162,NM_014208.3,NM_014208.3:c.3348C>A,NP_055023.2:p.Asp1116Glu,1116,5/5,\N,Benign,\N,missense_variant,MODERATE,\N,\N,12.93,0.2256,1KG_EUR_AF,DSPP
625170,4:88537162:C>T,88537162,NM_014208.3,NM_014208.3:c.3348C>T,NP_055023.2:p.Asp1116=,1116,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,9.054,0.00342466,EXAC_EAS_AF,DSPP
625171,4:88537165:C>T,88537165,NM_014208.3,NM_014208.3:c.3351C>T,NP_055023.2:p.Ser1117=,1117,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,10.21,\N,\N,DSPP
625172,4:88537167:GTGA>G,88537167,NM_014208.3,NM_014208.3:c.3354_3356del,NP_055023.2:p.Asp1119del,1118-1119,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,11.21,\N,\N,DSPP
625173,4:88537168:T>C,88537168,NM_014208.3,NM_014208.3:c.3354T>C,NP_055023.2:p.Ser1118=,1118,5/5,\N,Benign,\N,synonymous_variant,LOW,\N,\N,0.823,0.2718,1KG_EAS_AF,DSPP
625174,4:88537169:GACAGCAGCA>G,88537169,NM_014208.3,NM_014208.3:c.3357_3365del,NP_055023.2:p.Asn1122_Ser1124del,1119-1122,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,12.28,\N,\N,DSPP
625175,4:88537177:C>T,88537177,NM_014208.3,NM_014208.3:c.3363C>T,NP_055023.2:p.Ser1121=,1121,5/5,\N,Benign,\N,synonymous_variant,LOW,\N,\N,4.302,0.0204,1KG_AFR_AF,DSPP
625176,4:88537178:A>AATAGCAGTGACAGCAGTGACAGCAGTGACAGCAGTG,88537178,NM_014208.3,NM_014208.3:c.3389_3390insTGACAGCAGTGATAGCAGTGACAGCAGTGACAGCAG,NP_055023.2:p.Asp1128_Ser1139dup,1122,5/5,\N,Unknown significance,\N,inframe_insertion,MODERATE,\N,\N,\N,0,EXAC_ALL_AF|EXAC_AFR_AF|EXAC_AMR_AF|EXAC_EAS_AF|EXAC_FIN_AF|EXAC_NFE_AF|EXAC_OTH_AF|EXAC_SAS_AF,DSPP
625177,4:88537178:A>AGCG,88537178,NM_014208.3,NM_014208.3:c.3364_3365insGCG,NP_055023.2:p.Asn1122delinsSerAsp,1122,5/5,\N,Unknown significance,\N,protein_altering_variant,MODERATE,\N,\N,\N,\N,\N,DSPP
625178,4:88537178:A>G,88537178,NM_014208.3,NM_014208.3:c.3364A>G,NP_055023.2:p.Asn1122Asp,1122,5/5,\N,Benign,\N,missense_variant,MODERATE,\N,\N,9.511,0.4327,1KG_AFR_AF,DSPP
625179,4:88537178:A>T,88537178,NM_014208.3,NM_014208.3:c.3364A>T,NP_055023.2:p.Asn1122Tyr,1122,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,9.288,0.000227273,EXAC_SAS_AF,DSPP
625180,4:88537178:AATAGCAGTG>A,88537178,NM_014208.3,NM_014208.3:c.3366_3374del,NP_055023.2:p.Asp1137_Ser1139del,1122-1125,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,11.94,0.000454545,EXAC_SAS_AF,DSPP
625181,4:88537180:T>C,88537180,NM_014208.3,NM_014208.3:c.3366T>C,NP_055023.2:p.Asn1122=,1122,5/5,\N,Benign,\N,synonymous_variant,LOW,\N,\N,0.184,0.3676,1KG_AFR_AF,DSPP
625182,4:88537182:G>T,88537182,NM_014208.3,NM_014208.3:c.3368G>T,NP_055023.2:p.Ser1123Ile,1123,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,11.31,0.0040783,EXAC_AFR_AF,DSPP
625183,4:88537186:T>C,88537186,NM_014208.3,NM_014208.3:c.3372T>C,NP_055023.2:p.Ser1124=,1124,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,0.078,\N,\N,DSPP
625184,4:88537189:C>A,88537189,NM_014208.3,NM_014208.3:c.3375C>A,NP_055023.2:p.Asp1125Glu,1125,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,2.123,\N,\N,DSPP
625185,4:88537189:C>T,88537189,NM_014208.3,NM_014208.3:c.3375C>T,NP_055023.2:p.Asp1125=,1125,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,2.078,\N,\N,DSPP
625186,4:88537195:T>C,88537195,NM_014208.3,NM_014208.3:c.3381T>C,NP_055023.2:p.Ser1127=,1127,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,0.045,\N,\N,DSPP
625187,4:88537197:A>G,88537197,NM_014208.3,NM_014208.3:c.3383A>G,NP_055023.2:p.Asp1128Gly,1128,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,8.071,\N,\N,DSPP
625188,4:88537198:C>A,88537198,NM_014208.3,NM_014208.3:c.3384C>A,NP_055023.2:p.Asp1128Glu,1128,5/5,\N,Benign,\N,missense_variant,MODERATE,\N,\N,0.577,0.4508,1KG_AFR_AF,DSPP
625189,4:88537198:CAGCAGCGACAGCAGTGAT>C,88537198,NM_014208.3,NM_014208.3:c.3390_3407del,NP_055023.2:p.Asp1134_Ser1139del,1129-1134,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,9.187,\N,\N,DSPP
625190,4:88537204:C>T,88537204,NM_014208.3,NM_014208.3:c.3390C>T,NP_055023.2:p.Ser1130=,1130,5/5,\N,Benign,\N,synonymous_variant,LOW,\N,\N,12.35,0.6758,1KG_AMR_AF,DSPP
625191,4:88537204:CGACAGCAGT>C,88537204,NM_014208.3,NM_014208.3:c.3393_3401del,NP_055023.2:p.Asp1137_Ser1139del,1131-1133,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,7.606,\N,\N,DSPP
625192,4:88537204:CGACAGCAGTGATAGCAGTGACAGCAGCAACAGCAGTGACAGCAGT>C,88537204,NM_014208.3,NM_014208.3:c.3402_3446del,NP_055023.2:p.Asp1134_Ser1148del,1131-1145,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,8.087,\N,\N,DSPP
625193,4:88537205:G>A,88537205,NM_014208.3,NM_014208.3:c.3391G>A,NP_055023.2:p.Asp1131Asn,1131,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,9.752,\N,\N,DSPP
625194,4:88537205:GACAGCAGTGATAGCAGTGACAGCAGCA>G,88537205,NM_014208.3,NM_014208.3:c.3402_3428del,NP_055023.2:p.Asn1140_Ser1148del,1131-1140,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,9.474,\N,\N,DSPP
625195,4:88537206:ACAGCAG>A,88537206,NM_014208.3,NM_014208.3:c.3393_3398del,NP_055023.2:p.Ser1132_Ser1133del,1131-1133,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,8.254,\N,\N,DSPP
625196,4:88537207:C>T,88537207,NM_014208.3,NM_014208.3:c.3393C>T,NP_055023.2:p.Asp1131=,1131,5/5,\N,Benign,\N,synonymous_variant,LOW,\N,\N,2.182,0.6744,1KG_AMR_AF,DSPP
625197,4:88537207:CAGCAGTGAT>C,88537207,NM_014208.3,NM_014208.3:c.3402_3410del,NP_055023.2:p.Asp1137_Ser1139del,1132-1134,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,10.35,\N,\N,DSPP
625198,4:88537209:G>A,88537209,NM_014208.3,NM_014208.3:c.3395G>A,NP_055023.2:p.Ser1132Asn,1132,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,0.225,\N,\N,DSPP
625199,4:88537210:CAGT>C,88537210,NM_014208.3,NM_014208.3:c.3397_3399del,NP_055023.2:p.Ser1133del,1133,5/5,\N,Benign,\N,inframe_deletion,MODERATE,\N,\N,6.678,0.0235,1KG_SAS_AF,DSPP
625200,4:88537213:T>C,88537213,NM_014208.3,NM_014208.3:c.3399T>C,NP_055023.2:p.Ser1133=,1133,5/5,\N,Benign,\N,synonymous_variant,LOW,\N,\N,0.038,0.722222,EXAC_FIN_AF,DSPP
625201,4:88537213:T>TGATAGCAGTGAAAGCAGTGATAGCAGC,88537213,NM_014208.3,NM_014208.3:c.3410_3411insAAGCAGTGATAGCAGCGATAGCAGTGA,NP_055023.2:p.Ser1136_Asp1137insGluSerSerAspSerSerAspSerSer,1133-1134,5/5,\N,Benign,\N,inframe_insertion,MODERATE,\N,\N,0.449,0.385965,EXAC_SAS_AF,DSPP
625202,4:88537213:T>TGATAGCAGTGAAAGCAGTGATAGC,88537213,NM_014208.3,NM_014208.3:c.3410_3411insAAGCAGTGATAGCGATAGCAGTGA,NP_055023.2:p.Ser1136_Asp1137insGluSerSerAspSerAspSerSer,1133-1134,5/5,\N,Benign,\N,inframe_insertion,MODERATE,\N,\N,\N,0.0246449,EXAC_SAS_AF,DSPP
625203,4:88537213:TGATAGCAGTGACAGCAGCAACAGCAGTGACAGCAGTGACAGCAGTGAA>T,88537213,NM_014208.3,NM_014208.3:c.3400_3447del,NP_055023.2:p.Asp1134_Glu1149del,1134-1149,5/5,\N,Benign,\N,inframe_deletion,MODERATE,\N,\N,8.254,0.00545455,EXAC_AFR_AF,DSPP
625204,4:88537215:A>C,88537215,NM_014208.3,NM_014208.3:c.3401A>C,NP_055023.2:p.Asp1134Ala,1134,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,7.261,0.0008,1KG_AFR_AF,DSPP
625205,4:88537216:T>C,88537216,NM_014208.3,NM_014208.3:c.3402T>C,NP_055023.2:p.Asp1134=,1134,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,0.055,0.00316456,EXAC_EAS_AF,DSPP
625206,4:88537216:TAGCAGTGAC>T,88537216,NM_014208.3,NM_014208.3:c.3408_3416del,NP_055023.2:p.Asp1137_Ser1139del,1135-1137,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,\N,\N,\N,DSPP
625207,4:88537216:TAGCAGTGACAGCAGCAACAGCAGTGAC>T,88537216,NM_014208.3,NM_014208.3:c.3417_3443del,NP_055023.2:p.Asn1140_Ser1148del,1135-1143,5/5,\N,Benign,\N,inframe_deletion,MODERATE,\N,\N,9.382,0.0348101,EXAC_EAS_AF,DSPP
625208,4:88537216:TAGCAGTGACAGCAGCAACAGCAGTGACAGCAGTGACAGCAGTGAA>T,88537216,NM_014208.3,NM_014208.3:c.3408_3452del,NP_055023.2:p.Asn1140_Ser1154del,1135-1149,5/5,\N,Benign,\N,inframe_deletion,MODERATE,\N,\N,8.562,0.545455,EXAC_FIN_AF,DSPP
625209,4:88537221:GTGA>G,88537221,NM_014208.3,NM_014208.3:c.3408_3410del,NP_055023.2:p.Asp1137del,1136-1137,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,8.044,\N,\N,DSPP
625210,4:88537222:T>C,88537222,NM_014208.3,NM_014208.3:c.3408T>C,NP_055023.2:p.Ser1136=,1136,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,0.04,\N,\N,DSPP
625211,4:88537223:G>A,88537223,NM_014208.3,NM_014208.3:c.3409G>A,NP_055023.2:p.Asp1137Asn,1137,5/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,10.45,\N,\N,DSPP
625212,4:88537223:GACAGCAGCA>G,88537223,NM_014208.3,NM_014208.3:c.3417_3425del,NP_055023.2:p.Asn1140_Ser1142del,1137-1140,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,10.5,\N,\N,DSPP
625213,4:88537224:A>AAAGCAGTGATAG,88537224,NM_014208.3,NM_014208.3:c.3410_3411insAAGCAGTGATAG,NP_055023.2:p.Asp1137delinsGluSerSerAspSer,1137,5/5,\N,Unknown significance,\N,protein_altering_variant,MODERATE,\N,\N,0.22,0.00442478,EXAC_AFR_AF,DSPP
625214,4:88537224:AC>A,88537224,NM_014208.3,NM_014208.3:c.3411del,NP_055023.2:p.Asp1137GlufsTer177,1137,5/5,\N,Benign,\N,frameshift_variant,HIGH,\N,\N,24.6,0.00516224,EXAC_AFR_AF,DSPP
625215,4:88537225:C>A,88537225,NM_014208.3,NM_014208.3:c.3411C>A,NP_055023.2:p.Asp1137Glu,1137,5/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,9.611,\N,\N,DSPP
625216,4:88537226:AGCAGCAAC>A,88537226,NM_014208.3,NM_014208.3:c.3413_3420del,NP_055023.2:p.Ser1138LysfsTer3,1138-1140,5/5,\N,Unknown significance,\N,frameshift_variant,HIGH,\N,\N,27.6,\N,\N,DSPP
625217,4:88537226:AGCAGCAACAGCAGTGACAGCAGTGAC>A,88537226,NM_014208.3,NM_014208.3:c.3413_3438del,NP_055023.2:p.Ser1138LysfsTer3,1138-1146,5/5,\N,Unknown significance,\N,frameshift_variant,HIGH,\N,\N,28.4,\N,\N,DSPP
625218,4:88537226:AGCAGCAACAGCAGTGACAGCAGTGACAGCAGTGAAAGCAGCG>A,88537226,NM_014208.3,NM_014208.3:c.3413_3454del,NP_055023.2:p.Ser1138_Asp1152delinsAsn,1138-1152,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,8.262,\N,\N,DSPP
625219,4:88537228:C>CAGTGACAGCAGTGACAGCAGCGACAGCAGTGAT,88537228,NM_014208.3,NM_014208.3:c.3416_3417insTGACAGCAGTGACAGCAGCGACAGCAGTGATAG,NP_055023.2:p.Ser1139_Asn1140insAspSerSerAspSerSerAspSerSerAspSer,1138-1139,5/5,\N,Unknown significance,\N,inframe_insertion,MODERATE,\N,\N,2.037,0.000725689,EXAC_AFR_AF,DSPP
625220,4:88537228:C>CAGTGAT,88537228,NM_014208.3,NM_014208.3:c.3416_3417insTGATAG,NP_055023.2:p.Ser1139_Asn1140insAspSer,1138-1139,5/5,\N,Benign,\N,inframe_insertion,MODERATE,\N,\N,6.376,0.266082,EXAC_EAS_AF,DSPP
625221,4:88537228:C>CAGTGATAGCAGCGAT,88537228,NM_014208.3,NM_014208.3:c.3416_3417insTGATAGCAGCGATAG,NP_055023.2:p.Ser1139_Asn1140insAspSerSerAspSer,1138-1139,5/5,\N,Benign,\N,inframe_insertion,MODERATE,\N,\N,4.975,0.125,EXAC_FIN_AF,DSPP
625222,4:88537228:C>CAGTGATAGCGAT,88537228,NM_014208.3,NM_014208.3:c.3416_3417insTGATAGCGATAG,NP_055023.2:p.Ser1139_Asn1140insAspSerAspSer,1138-1139,5/5,\N,Benign,\N,inframe_insertion,MODERATE,\N,\N,5.464,0.00580552,EXAC_AFR_AF,DSPP
625223,4:88537228:C>CGAT,88537228,NM_014208.3,NM_014208.3:c.3414_3415insGAT,NP_055023.2:p.Ser1138_Ser1139insAsp,1138-1139,5/5,\N,Unknown significance,\N,inframe_insertion,MODERATE,\N,\N,6.797,0.00435414,EXAC_AFR_AF,DSPP
625224,4:88537229:A>AGTG,88537229,NM_014208.3,NM_014208.3:c.3416_3417insTGG,NP_055023.2:p.Ser1139_Asn1140insGly,1139,5/5,\N,Benign,\N,inframe_insertion,MODERATE,\N,\N,0.576,0.142857,EXAC_FIN_AF,DSPP
625225,4:88537230:G>GTGA,88537230,NM_014208.3,NM_014208.3:c.3416_3417insTGA,NP_055023.2:p.Ser1139_Asn1140insAsp,1139,5/5,\N,Unknown significance,\N,inframe_insertion,MODERATE,\N,\N,2.383,\N,\N,DSPP
625226,4:88537230:G>GTGGCAGCAGCGA,88537230,NM_014208.3,NM_014208.3:c.3416_3417insTGGCAGCAGCGA,NP_055023.2:p.Ser1139_Asn1140insGlySerSerAsp,1139,5/5,\N,Unknown significance,\N,inframe_insertion,MODERATE,\N,\N,1.286,\N,\N,DSPP
625227,4:88537231:C>CG,88537231,NM_014208.3,NM_014208.3:c.3417_3418insG,NP_055023.2:p.Asn1140GlufsTer4,1139-1140,5/5,\N,Unknown significance,\N,frameshift_variant,HIGH,\N,\N,26,\N,\N,DSPP
625228,4:88537231:C>T,88537231,NM_014208.3,NM_014208.3:c.3417C>T,NP_055023.2:p.Ser1139=,1139,5/5,\N,Benign,\N,synonymous_variant,LOW,\N,\N,4.039,0.0983,1KG_AFR_AF,DSPP
625229,4:88537231:CAACAGCAGTGACAGCAGT>C,88537231,NM_014208.3,NM_014208.3:c.3418_3435del,NP_055023.2:p.Asn1140_Ser1145del,1140-1145,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,10.73,\N,\N,DSPP
625230,4:88537232:A>AGCGATAGCAGTGACAGCAGCG,88537232,NM_014208.3,NM_014208.3:c.3418_3419insGCGATAGCAGTGACAGCAGCG,NP_055023.2:p.Asn1140delinsSerAspSerSerAspSerSerAsp,1140,5/5,\N,Benign,\N,protein_altering_variant,MODERATE,\N,\N,0.041,0.534091,EXAC_EAS_AF,DSPP
625231,4:88537232:A>G,88537232,NM_014208.3,NM_014208.3:c.3418A>G,NP_055023.2:p.Asn1140Asp,1140,5/5,\N,Benign,\N,missense_variant,MODERATE,\N,\N,8.461,0.9179,1KG_AMR_AF,DSPP
625232,4:88537232:A>AGCAGCGACAGCAGTGATAGCAGTGACAGCAGTGATAGCAGCGATAGCAGTGACAGCAGCG,88537232,NM_014208.3,NM_014208.3:c.3418_3419insGCAGCGACAGCAGTGATAGCAGTGACAGCAGTGATAGCAGCGATAGCAGTGACAGCAGCG,NP_055023.2:p.Asn1140delinsSerSerAspSerSerAspSerSerAspSerSerAspSerSerAspSerSerAspSerSerAsp,1140,5/5,\N,Benign,\N,protein_altering_variant,MODERATE,\N,\N,0.005,0.130682,EXAC_EAS_AF,DSPP
625233,4:88537232:A>AGCG,88537232,NM_014208.3,NM_014208.3:c.3418_3419insGCG,NP_055023.2:p.Asn1140delinsSerAsp,1140,5/5,\N,Benign,\N,protein_altering_variant,MODERATE,\N,\N,0.199,0.0454545,EXAC_AMR_AF,DSPP
625234,4:88537232:A>AGCGATAGCAGTG,88537232,NM_014208.3,NM_014208.3:c.3418_3419insGCGATAGCAGTG,NP_055023.2:p.Asn1140delinsSerAspSerSerAsp,1140,5/5,\N,Unknown significance,\N,protein_altering_variant,MODERATE,\N,\N,0.088,0.0046729,EXAC_AFR_AF,DSPP
625235,4:88537232:A>AGTG,88537232,NM_014208.3,NM_014208.3:c.3418_3419insGTG,NP_055023.2:p.Asn1140delinsSerAsp,1140,5/5,\N,Benign,\N,protein_altering_variant,MODERATE,\N,\N,0.199,0.0140187,EXAC_AFR_AF,DSPP
625236,4:88537234:C>T,88537234,NM_014208.3,NM_014208.3:c.3420C>T,NP_055023.2:p.Asn1140=,1140,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,5.324,\N,\N,DSPP
625237,4:88537240:T>C,88537240,NM_014208.3,NM_014208.3:c.3426T>C,NP_055023.2:p.Ser1142=,1142,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,0.038,0.00378788,EXAC_AFR_AF,DSPP
625238,4:88537240:T>TGATAGCAGTGAAAGCAGTGATAGCAGCGATAGCAGTGACAGCAGC,88537240,NM_014208.3,NM_014208.3:c.3428_3429insTAGCAGTGAAAGCAGTGATAGCAGCGATAGCAGTGACAGCAGCGA,NP_055023.2:p.Ser1145_Asp1146insGluSerSerAspSerSerAspSerSerAspSerSerAspSerSer,1142-1143,5/5,\N,Unknown significance,\N,inframe_insertion,MODERATE,\N,\N,0.02,0.000541126,EXAC_AFR_AF,DSPP
625239,4:88537241:G>A,88537241,NM_014208.3,NM_014208.3:c.3427G>A,NP_055023.2:p.Asp1143Asn,1143,5/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,9.26,\N,\N,DSPP
625240,4:88537242:A>G,88537242,NM_014208.3,NM_014208.3:c.3428A>G,NP_055023.2:p.Asp1143Gly,1143,5/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,8.863,\N,\N,DSPP
625241,4:88537243:C>A,88537243,NM_014208.3,NM_014208.3:c.3429C>A,NP_055023.2:p.Asp1143Glu,1143,5/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,2.18,\N,\N,DSPP
625242,4:88537243:C>CAGCAGCGACAGCAGTGAT,88537243,NM_014208.3,NM_014208.3:c.3434_3435insCGACAGCAGTGATAGCAG,NP_055023.2:p.Asp1143_Ser1148dup,1143-1144,5/5,\N,Unknown significance,\N,inframe_insertion,MODERATE,\N,\N,\N,\N,\N,DSPP
625243,4:88537243:C>T,88537243,NM_014208.3,NM_014208.3:c.3429C>T,NP_055023.2:p.Asp1143=,1143,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,4.853,\N,\N,DSPP
625244,4:88537249:T>C,88537249,NM_014208.3,NM_014208.3:c.3435T>C,NP_055023.2:p.Ser1145=,1145,5/5,\N,Benign,\N,synonymous_variant,LOW,\N,\N,0.071,0.0462963,EXAC_EAS_AF,DSPP
625245,4:88537251:AC>A,88537251,NM_014208.3,NM_014208.3:c.3438del,NP_055023.2:p.Asp1146GlufsTer168,1146,5/5,\N,Pathogenic,Dentinogenesis imperfecta type II,frameshift_variant,HIGH,\N,\N,23.8,\N,\N,DSPP
625246,4:88537252:C>T,88537252,NM_014208.3,NM_014208.3:c.3438C>T,NP_055023.2:p.Asp1146=,1146,5/5,\N,Benign,\N,synonymous_variant,LOW,\N,\N,5.991,0.0262009,EXAC_EAS_AF,DSPP
625247,4:88537252:CAGCAGTGAA>C,88537252,NM_014208.3,NM_014208.3:c.3444_3452del,NP_055023.2:p.Glu1149_Ser1151del,1147-1149,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,\N,\N,\N,DSPP
625248,4:88537254:G>A,88537254,NM_014208.3,NM_014208.3:c.3440G>A,NP_055023.2:p.Ser1147Asn,1147,5/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,9.611,\N,\N,DSPP
625249,4:88537258:T>C,88537258,NM_014208.3,NM_014208.3:c.3444T>C,NP_055023.2:p.Ser1148=,1148,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,0.246,0.00384615,EXAC_EAS_AF,DSPP
625250,4:88537259:G>A,88537259,NM_014208.3,NM_014208.3:c.3445G>A,NP_055023.2:p.Glu1149Lys,1149,5/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,13.34,0.0001294,EXAC_SAS_AF,DSPP
625251,4:88537261:A>C,88537261,NM_014208.3,NM_014208.3:c.3447A>C,NP_055023.2:p.Glu1149Asp,1149,5/5,\N,Benign,\N,missense_variant,MODERATE,\N,\N,0.033,0.0342857,EXAC_EAS_AF,DSPP
625252,4:88537261:A>T,88537261,NM_014208.3,NM_014208.3:c.3447A>T,NP_055023.2:p.Glu1149Asp,1149,5/5,\N,Benign,\N,missense_variant,MODERATE,\N,\N,0.064,0.0371429,EXAC_EAS_AF,DSPP
625253,4:88537261:A>AAGCAGCGACAGCAGCGAT,88537261,NM_014208.3,NM_014208.3:c.3461_3462insCGATAGCAGCGACAGCAG,NP_055023.2:p.Asp1173_Ser1178dup,1149-1150,5/5,\N,Benign,\N,inframe_insertion,MODERATE,\N,\N,0.012,0.465714,EXAC_EAS_AF,DSPP
625254,4:88537261:AAGCAGCGACAGCAGTGACAGCAGCGACAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGACAGCAGCGATAGCAGTGACAGCAGCAATAGCAGTGATAGCAGCGACAGCAGTGATAGCAGTGAC>A,88537261,NM_014208.3,NM_014208.3:c.3462_3587del,NP_055023.2:p.Asn1179_Ser1220del,1150-1191,5/5,\N,Benign,\N,inframe_deletion,MODERATE,\N,\N,9.917,0.00519422,EXAC_NFE_AF,DSPP
625255,4:88537261:A>AAGCAGTGACAGCAGCGAT,88537261,NM_014208.3,NM_014208.3:c.3452_3453insTGACAGCAGCGATAGCAG,NP_055023.2:p.Asp1173_Ser1178dup,1149-1150,5/5,\N,Benign,\N,inframe_insertion,MODERATE,\N,\N,\N,0.0117647,EXAC_AFR_AF,DSPP
625256,4:88537261:A>AAGCAGCGACAGCAGTGAC,88537261,NM_014208.3,NM_014208.3:c.3474_3491dup,NP_055023.2:p.Asp1173_Ser1178dup,1149-1150,5/5,\N,Unknown significance,\N,inframe_insertion,MODERATE,\N,\N,\N,0.000670241,EXAC_SAS_AF,DSPP
625257,4:88537267:C>CGACAGCAGCGATAGCAGT,88537267,NM_014208.3,NM_014208.3:c.3461_3462insCGATAGCAGTGACAGCAG,NP_055023.2:p.Asp1173_Ser1178dup,1151-1152,5/5,\N,Unknown significance,\N,inframe_insertion,MODERATE,\N,\N,\N,\N,\N,DSPP
625258,4:88537267:C>T,88537267,NM_014208.3,NM_014208.3:c.3453C>T,NP_055023.2:p.Ser1151=,1151,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,9.834,\N,\N,DSPP
625259,4:88537268:G>A,88537268,NM_014208.3,NM_014208.3:c.3454G>A,NP_055023.2:p.Asp1152Asn,1152,5/5,\N,Benign,\N,missense_variant,MODERATE,\N,\N,13.72,0.3372,1KG_AMR_AF,DSPP
625260,4:88537268:G>GACAGCAGCGATAGCAGCA,88537268,NM_014208.3,NM_014208.3:c.3461_3462insCGATAGCAGCAACAGCAG,NP_055023.2:p.Ser1157_Asp1158insAsnSerSerAspSerSer,1152,5/5,\N,Unknown significance,\N,inframe_insertion,MODERATE,\N,\N,0.413,0.000129567,EXAC_NFE_AF,DSPP
625261,4:88537270:C>T,88537270,NM_014208.3,NM_014208.3:c.3456C>T,NP_055023.2:p.Asp1152=,1152,5/5,\N,Benign,\N,synonymous_variant,LOW,\N,\N,5.557,0.0282609,EXAC_EAS_AF,DSPP
625262,4:88537270:C>CTAGCAGCGATAGCAGCGA,88537270,NM_014208.3,NM_014208.3:c.3456_3457insTAGCAGCGATAGCAGCGA,NP_055023.2:p.Asp1152_Ser1153insTer,1152-1153,5/5,\N,Likely pathogenic,Deafness,stop_gained&inframe_insertion,HIGH,\N,\N,35,\N,\N,DSPP
625263,4:88537275:G>GCGA,88537275,NM_014208.3,NM_014208.3:c.3461_3462insCGA,NP_055023.2:p.Asp1155dup,1154,5/5,\N,Unknown significance,\N,inframe_insertion,MODERATE,\N,\N,3.194,\N,\N,DSPP
625264,4:88537276:T>C,88537276,NM_014208.3,NM_014208.3:c.3462T>C,NP_055023.2:p.Ser1154=,1154,5/5,\N,Benign,\N,synonymous_variant,LOW,\N,\N,0.504,0.6,EXAC_FIN_AF,DSPP
625265,4:88537276:T>TGAAAGCAGC,88537276,NM_014208.3,NM_014208.3:c.3464_3465insAAGCAGCGA,NP_055023.2:p.Ser1154_Asp1155insGluSerSer,1154-1155,5/5,\N,Unknown significance,\N,inframe_insertion,MODERATE,\N,\N,\N,0.000528821,EXAC_SAS_AF,DSPP
625266,4:88537276:TGACAGCAGCGACAGCAGTGACAGCAGCGATAGCAGCGACAGCAGC>T,88537276,NM_014208.3,NM_014208.3:c.3474_3518del,NP_055023.2:p.Asp1164_Ser1178del,1155-1169,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,9.473,0.00026441,EXAC_SAS_AF,DSPP
625267,4:88537276:T>TAGCAGCGACAGCAGC,88537276,NM_014208.3,NM_014208.3:c.3462_3463insAGCAGCGACAGCAGC,NP_055023.2:p.Ser1150_Ser1154dup,1154-1155,5/5,\N,Unknown significance,\N,inframe_insertion,MODERATE,\N,\N,5.911,0.00026441,EXAC_SAS_AF,DSPP
625268,4:88537279:C>A,88537279,NM_014208.3,NM_014208.3:c.3465C>A,NP_055023.2:p.Asp1155Glu,1155,5/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,12.31,0.00391032,EXAC_SAS_AF,DSPP
625269,4:88537279:C>T,88537279,NM_014208.3,NM_014208.3:c.3465C>T,NP_055023.2:p.Asp1155=,1155,5/5,\N,Benign,\N,synonymous_variant,LOW,\N,\N,8.679,0.5,EXAC_FIN_AF,DSPP
625270,4:88537285:C>T,88537285,NM_014208.3,NM_014208.3:c.3471C>T,NP_055023.2:p.Ser1157=,1157,5/5,\N,Benign,\N,synonymous_variant,LOW,\N,\N,11.26,0.0217391,EXAC_OTH_AF,DSPP
625271,4:88537286:G>A,88537286,NM_014208.3,NM_014208.3:c.3472G>A,NP_055023.2:p.Asp1158Asn,1158,5/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,11.16,0.000126807,EXAC_SAS_AF,DSPP
625272,4:88537288:C>T,88537288,NM_014208.3,NM_014208.3:c.3474C>T,NP_055023.2:p.Asp1158=,1158,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,6.042,\N,\N,DSPP
625273,4:88537291:C>A,88537291,NM_014208.3,NM_014208.3:c.3477C>A,NP_055023.2:p.Ser1159Arg,1159,5/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,8.769,0.00174825,EXAC_EAS_AF,DSPP
625274,4:88537293:G>GCGA,88537293,NM_014208.3,NM_014208.3:c.3479_3480insCGA,NP_055023.2:p.Asp1161dup,1160,5/5,\N,Unknown significance,\N,inframe_insertion,MODERATE,\N,\N,0.066,\N,\N,DSPP
625275,4:88537294:T>C,88537294,NM_014208.3,NM_014208.3:c.3480T>C,NP_055023.2:p.Ser1160=,1160,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,0.05,0.00430795,EXAC_SAS_AF,DSPP
625276,4:88537294:T>TGACAGCAGTGACAGCAGTGAAAGCAGC,88537294,NM_014208.3,NM_014208.3:c.3488_3489insTGACAGCAGTGAAAGCAGCGACAGCAG,NP_055023.2:p.Ser1166_Asp1167insGluSerSerAspSerSerAspSerSer,1160-1161,5/5,\N,Unknown significance,\N,inframe_insertion,MODERATE,\N,\N,0.004,0.00294118,EXAC_AMR_AF,DSPP
625277,4:88537294:T>TAGCAGC,88537294,NM_014208.3,NM_014208.3:c.3480_3481insAGCAGC,NP_055023.2:p.Ser1159_Ser1160dup,1160-1161,5/5,\N,Unknown significance,\N,inframe_insertion,MODERATE,\N,\N,0.015,0.00138966,EXAC_SAS_AF,DSPP
625278,4:88537294:TGACAGCAGCGATAGCAGCGACAGCAGC>T,88537294,NM_014208.3,NM_014208.3:c.3498_3524del,NP_055023.2:p.Asp1170_Ser1178del,1161-1169,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,10.48,0.00013344,EXAC_NFE_AF,DSPP
625279,4:88537296:ACAG>A,88537296,NM_014208.3,NM_014208.3:c.3487_3489del,NP_055023.2:p.Ser1163del,1161-1162,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,7.092,\N,\N,DSPP
625280,4:88537297:C>T,88537297,NM_014208.3,NM_014208.3:c.3483C>T,NP_055023.2:p.Asp1161=,1161,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,6.913,\N,\N,DSPP
625281,4:88537297:CAGCAGCGAT>C,88537297,NM_014208.3,NM_014208.3:c.3492_3500del,NP_055023.2:p.Asp1176_Ser1178del,1162-1164,5/5,\N,Benign,\N,inframe_deletion,MODERATE,\N,\N,7.922,0.3897,1KG_EUR_AF,DSPP
625282,4:88537300:C>T,88537300,NM_014208.3,NM_014208.3:c.3486C>T,NP_055023.2:p.Ser1162=,1162,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,8.273,0.000920245,EXAC_NFE_AF,DSPP
625283,4:88537301:AGC>A,88537301,NM_014208.3,NM_014208.3:c.3489_3490del,NP_055023.2:p.Ser1163ArgfsTer2,1163,5/5,\N,Unknown significance,\N,frameshift_variant,HIGH,\N,\N,25.2,\N,\N,DSPP
625284,4:88537303:CG>C,88537303,NM_014208.3,NM_014208.3:c.3490del,NP_055023.2:p.Asp1164IlefsTer150,1164,5/5,\N,Unknown significance,\N,frameshift_variant,HIGH,\N,\N,23.4,\N,\N,DSPP
625285,4:88537304:G>A,88537304,NM_014208.3,NM_014208.3:c.3490G>A,NP_055023.2:p.Asp1164Asn,1164,5/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,4.958,0.00020842,EXAC_SAS_AF,DSPP
625286,4:88537305:A>ACAGCAG,88537305,NM_014208.3,NM_014208.3:c.3491_3492insCAGCAG,NP_055023.2:p.Ser1165_Ser1166dup,1164,5/5,\N,Unknown significance,\N,inframe_insertion,MODERATE,\N,\N,0.02,\N,\N,DSPP
625287,4:88537305:ATAGCAGC>A,88537305,NM_014208.3,NM_014208.3:c.3492_3498del,NP_055023.2:p.Asp1164GlufsTer148,1164-1166,5/5,\N,Unknown significance,\N,frameshift_variant,HIGH,\N,\N,32,\N,\N,DSPP
625288,4:88537305:ATAGCAGCG>A,88537305,NM_014208.3,NM_014208.3:c.3492_3499del,NP_055023.2:p.Asp1164GlufsTer8,1164-1167,5/5,\N,Unknown significance,\N,frameshift_variant,HIGH,\N,\N,33,\N,\N,DSPP
625289,4:88537306:T>C,88537306,NM_014208.3,NM_014208.3:c.3492T>C,NP_055023.2:p.Asp1164=,1164,5/5,\N,Benign,\N,synonymous_variant,LOW,\N,\N,0.016,0.030303,EXAC_OTH_AF,DSPP
625290,4:88537306:TAGCAGCGAC>T,88537306,NM_014208.3,NM_014208.3:c.3510_3518del,NP_055023.2:p.Asp1176_Ser1178del,1165-1167,5/5,\N,Benign,\N,inframe_deletion,MODERATE,\N,\N,11.92,0.0436508,EXAC_AFR_AF,DSPP
625291,4:88537306:T>TAGCAGCGACAGCAGTGAC,88537306,NM_014208.3,NM_014208.3:c.3506_3507insTGACAGCAGCGACAGCAG,NP_055023.2:p.Asp1173_Ser1178dup,1164-1165,5/5,\N,Benign,\N,inframe_insertion,MODERATE,\N,\N,\N,0.00632911,EXAC_AMR_AF,DSPP
625292,4:88537306:T>TGAC,88537306,NM_014208.3,NM_014208.3:c.3492_3493insGAC,NP_055023.2:p.Asp1164dup,1164-1165,5/5,\N,Benign,\N,inframe_insertion,MODERATE,\N,\N,3.428,0.0357143,EXAC_AFR_AF,DSPP
625293,4:88537306:TAGCAGCGACAGCAGCGACAGCAGCGATAGCAGTGACAGCAGCAATAGCAGTGATAGCAGCGACAGCAGTGATAGCAGTGAC>T,88537306,NM_014208.3,NM_014208.3:c.3510_3590del,NP_055023.2:p.Asn1179_Ser1205del,1165-1191,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,9.735,0.00132275,EXAC_AFR_AF,DSPP
625294,4:88537312:C>A,88537312,NM_014208.3,NM_014208.3:c.3498C>A,NP_055023.2:p.Ser1166Arg,1166,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,15.7,0.00070922,EVS_EA_AF,DSPP
625295,4:88537312:C>CGACAGCAGT,88537312,NM_014208.3,NM_014208.3:c.3506_3507insTGACAGCAG,NP_055023.2:p.Asp1176_Ser1178dup,1166-1167,5/5,\N,Unknown significance,\N,inframe_insertion,MODERATE,\N,\N,\N,\N,\N,DSPP
625296,4:88537312:C>T,88537312,NM_014208.3,NM_014208.3:c.3498C>T,NP_055023.2:p.Ser1166=,1166,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,13.28,\N,\N,DSPP
625297,4:88537315:C>T,88537315,NM_014208.3,NM_014208.3:c.3501C>T,NP_055023.2:p.Asp1167=,1167,5/5,\N,Benign,\N,synonymous_variant,LOW,\N,\N,6.121,0.0172414,EXAC_AFR_AF,DSPP
625298,4:88537320:G>A,88537320,NM_014208.3,NM_014208.3:c.3506G>A,NP_055023.2:p.Ser1169Asn,1169,5/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,7.656,0.00169492,EXAC_EAS_AF,DSPP
625299,4:88537321:C>T,88537321,NM_014208.3,NM_014208.3:c.3507C>T,NP_055023.2:p.Ser1169=,1169,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,11.31,0.000120656,EXAC_NFE_AF,DSPP
625300,4:88537324:CAGCAGCGAT>C,88537324,NM_014208.3,NM_014208.3:c.3516_3524del,NP_055023.2:p.Asp1176_Ser1178del,1171-1173,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,\N,\N,\N,DSPP
625301,4:88537324:CAGCAGCGATAGCAGTGACAGCAGCAATAGCAGTGAT>C,88537324,NM_014208.3,NM_014208.3:c.3519_3554del,NP_055023.2:p.Asn1179_Ser1190del,1171-1182,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,10.51,\N,\N,DSPP
625302,4:88537326:G>A,88537326,NM_014208.3,NM_014208.3:c.3512G>A,NP_055023.2:p.Ser1171Asn,1171,5/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,9.256,0.00170648,EXAC_EAS_AF,DSPP
625303,4:88537329:G>A,88537329,NM_014208.3,NM_014208.3:c.3515G>A,NP_055023.2:p.Ser1172Asn,1172,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,10.49,\N,\N,DSPP
625304,4:88537330:C>T,88537330,NM_014208.3,NM_014208.3:c.3516C>T,NP_055023.2:p.Ser1172=,1172,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,13.7,\N,\N,DSPP
625305,4:88537331:G>A,88537331,NM_014208.3,NM_014208.3:c.3517G>A,NP_055023.2:p.Asp1173Asn,1173,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,14.39,0.000640041,EXAC_SAS_AF,DSPP
625306,4:88537332:ATAG>A,88537332,NM_014208.3,NM_014208.3:c.3519_3521del,NP_055023.2:p.Ser1175del,1173-1174,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,12.3,0.000954198,EXAC_AFR_AF,DSPP
625307,4:88537333:T>A,88537333,NM_014208.3,NM_014208.3:c.3519T>A,NP_055023.2:p.Asp1173Glu,1173,5/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,5.895,0.000115207,EXAC_NFE_AF,DSPP
625308,4:88537333:T>C,88537333,NM_014208.3,NM_014208.3:c.3519T>C,NP_055023.2:p.Asp1173=,1173,5/5,\N,Benign,\N,synonymous_variant,LOW,\N,\N,0.045,0.00526316,EXAC_OTH_AF,DSPP
625309,4:88537336:CAGTGACAGCAGCAATAGCAGTGAT>C,88537336,NM_014208.3,NM_014208.3:c.3525_3548del,NP_055023.2:p.Asp1176_Ser1183del,1175-1182,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,10.83,\N,\N,DSPP
625310,4:88537337:A>G,88537337,NM_014208.3,NM_014208.3:c.3523A>G,NP_055023.2:p.Ser1175Gly,1175,5/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,6.156,0.00166667,EXAC_EAS_AF,DSPP
625311,4:88537339:T>C,88537339,NM_014208.3,NM_014208.3:c.3525T>C,NP_055023.2:p.Ser1175=,1175,5/5,\N,Benign,\N,synonymous_variant,LOW,\N,\N,0.081,0.0197,1KG_AFR_AF,DSPP
625312,4:88537339:T>G,88537339,NM_014208.3,NM_014208.3:c.3525T>G,NP_055023.2:p.Ser1175Arg,1175,5/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,2.164,0.0001287,EXAC_SAS_AF,DSPP
625313,4:88537340:GACAGCAGCA>G,88537340,NM_014208.3,NM_014208.3:c.3528_3536del,NP_055023.2:p.Asn1179_Ser1181del,1176-1179,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,10.66,\N,\N,DSPP
625314,4:88537341:ACAG>A,88537341,NM_014208.3,NM_014208.3:c.3533_3535del,NP_055023.2:p.Ser1178del,1176-1177,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,8.88,\N,\N,DSPP
625315,4:88537342:C>T,88537342,NM_014208.3,NM_014208.3:c.3528C>T,NP_055023.2:p.Asp1176=,1176,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,7.971,0.000305998,EVS_AA_AF,DSPP
625316,4:88537342:CAGCAGCAATAGCAGTGAT>C,88537342,NM_014208.3,NM_014208.3:c.3535_3552del,NP_055023.2:p.Asn1179_Ser1184del,1177-1182,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,\N,\N,\N,DSPP
625317,4:88537345:C>A,88537345,NM_014208.3,NM_014208.3:c.3531C>A,NP_055023.2:p.Ser1177Arg,1177,5/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,8.009,0.00108722,EXAC_NFE_AF,DSPP
625318,4:88537349:A>G,88537349,NM_014208.3,NM_014208.3:c.3535A>G,NP_055023.2:p.Asn1179Asp,1179,5/5,\N,Benign,\N,missense_variant,MODERATE,\N,\N,0.022,0.0076,1KG_AFR_AF,DSPP
625319,4:88537351:T>C,88537351,NM_014208.3,NM_014208.3:c.3537T>C,NP_055023.2:p.Asn1179=,1179,5/5,\N,Benign,\N,synonymous_variant,LOW,\N,\N,0.074,0.0106,1KG_AFR_AF,DSPP
625320,4:88537357:T>C,88537357,NM_014208.3,NM_014208.3:c.3543T>C,NP_055023.2:p.Ser1181=,1181,5/5,\N,Benign,\N,synonymous_variant,LOW,\N,\N,0.29,0.214286,EXAC_FIN_AF,DSPP
625321,4:88537360:T>C,88537360,NM_014208.3,NM_014208.3:c.3546T>C,NP_055023.2:p.Asp1182=,1182,5/5,\N,Benign,\N,synonymous_variant,LOW,\N,\N,0.031,0.0102,1KG_SAS_AF,DSPP
625322,4:88537360:T>G,88537360,NM_014208.3,NM_014208.3:c.3546T>G,NP_055023.2:p.Asp1182Glu,1182,5/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,0.836,0.00046729,EXAC_AFR_AF,DSPP
625323,4:88537360:TAGCA>G,88537360,NM_014208.3,NM_014208.3:c.3546_3550delinsG,NP_055023.2:p.Asp1182GlufsTer131,1182-1184,5/5,\N,Pathogenic,Dentinogenesis imperfecta type II,frameshift_variant,HIGH,\N,\N,\N,\N,\N,DSPP
625324,4:88537367:G>A,88537367,NM_014208.3,NM_014208.3:c.3553G>A,NP_055023.2:p.Asp1185Asn,1185,5/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,9.283,0.0004662,EXAC_NFE_AF,DSPP
625325,4:88537368:ACAGCAG>A,88537368,NM_014208.3,NM_014208.3:c.3555_3560del,NP_055023.2:p.Ser1186_Ser1187del,1185-1187,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,12.77,0.00169492,EXAC_EAS_AF,DSPP
625326,4:88537370:A>G,88537370,NM_014208.3,NM_014208.3:c.3556A>G,NP_055023.2:p.Ser1186Gly,1186,5/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,0.012,0.000114916,EXAC_NFE_AF,DSPP
625327,4:88537372:C>T,88537372,NM_014208.3,NM_014208.3:c.3558C>T,NP_055023.2:p.Ser1186=,1186,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,8.843,0.000134844,EXAC_SAS_AF,DSPP
625328,4:88537373:AG>A,88537373,NM_014208.3,NM_014208.3:c.3560del,NP_055023.2:p.Ser1187MetfsTer127,1187,5/5,\N,Pathogenic,Dentinogenesis imperfecta type II,frameshift_variant,HIGH,\N,\N,28.8,\N,\N,DSPP
625329,4:88537375:T>C,88537375,NM_014208.3,NM_014208.3:c.3561T>C,NP_055023.2:p.Ser1187=,1187,5/5,\N,Benign,\N,synonymous_variant,LOW,\N,\N,0.603,0.0304428,EVS_AA_AF,DSPP
625330,4:88537375:TGATAGCAGTGACAGCAGCGACAGCAGCGATAGCAGCGACAGCAGC>T,88537375,NM_014208.3,NM_014208.3:c.3567_3611del,NP_055023.2:p.Ser1217_Ser1231del,1188-1202,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,10.9,0.000115955,EXAC_NFE_AF,DSPP
625331,4:88537377:ATAG>A,88537377,NM_014208.3,NM_014208.3:c.3564_3566del,NP_055023.2:p.Ser1190del,1188-1189,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,11.48,\N,\N,DSPP
625332,4:88537378:T>C,88537378,NM_014208.3,NM_014208.3:c.3564T>C,NP_055023.2:p.Asp1188=,1188,5/5,\N,Benign,\N,synonymous_variant,LOW,\N,\N,0.025,0.3064,1KG_AFR_AF,DSPP
625333,4:88537378:T>TAGCAGCGAC,88537378,NM_014208.3,NM_014208.3:c.3569_3570insCGACAGCAG,NP_055023.2:p.Ser1229_Ser1231dup,1188-1189,5/5,\N,Benign,\N,inframe_insertion,MODERATE,\N,\N,\N,0.0163043,EXAC_AFR_AF,DSPP
625334,4:88537378:TAGCAGTGAC>T,88537378,NM_014208.3,NM_014208.3:c.3570_3578del,NP_055023.2:p.Ser1229_Ser1231del,1189-1191,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,11.88,0.00490196,EXAC_AMR_AF,DSPP
625335,4:88537381:CAGT>C,88537381,NM_014208.3,NM_014208.3:c.3568_3570del,NP_055023.2:p.Ser1190del,1190,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,11.17,\N,\N,DSPP
625336,4:88537383:G>A,88537383,NM_014208.3,NM_014208.3:c.3569G>A,NP_055023.2:p.Ser1190Asn,1190,5/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,7.603,0.0017301,EXAC_EAS_AF,DSPP
625337,4:88537384:T>C,88537384,NM_014208.3,NM_014208.3:c.3570T>C,NP_055023.2:p.Ser1190=,1190,5/5,\N,Benign,\N,synonymous_variant,LOW,\N,\N,0.115,0.4375,EXAC_FIN_AF,DSPP
625338,4:88537384:T>TGACAGCAGC,88537384,NM_014208.3,NM_014208.3:c.3582_3590dup,NP_055023.2:p.Ser1229_Ser1231dup,1190-1191,5/5,\N,Unknown significance,\N,inframe_insertion,MODERATE,\N,\N,\N,0.000465549,EXAC_AFR_AF,DSPP
625339,4:88537384:TGACAGCAGC>T,88537384,NM_014208.3,NM_014208.3:c.3582_3590del,NP_055023.2:p.Ser1229_Ser1231del,1191-1193,5/5,\N,Benign,\N,inframe_deletion,MODERATE,\N,\N,7.62,0.0102421,EXAC_AFR_AF,DSPP
625340,4:88537385:G>A,88537385,NM_014208.3,NM_014208.3:c.3571G>A,NP_055023.2:p.Asp1191Asn,1191,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,8.625,\N,\N,DSPP
625341,4:88537387:C>A,88537387,NM_014208.3,NM_014208.3:c.3573C>A,NP_055023.2:p.Asp1191Glu,1191,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,1.49,\N,\N,DSPP
625342,4:88537387:C>CAGCAGCGAT,88537387,NM_014208.3,NM_014208.3:c.3581_3582insTAGCAGCGA,NP_055023.2:p.Ser1229_Ser1231dup,1191-1192,5/5,\N,Benign,\N,inframe_insertion,MODERATE,\N,\N,0.879,0.0170732,EXAC_AFR_AF,DSPP
625343,4:88537387:C>T,88537387,NM_014208.3,NM_014208.3:c.3573C>T,NP_055023.2:p.Asp1191=,1191,5/5,\N,Benign,\N,synonymous_variant,LOW,\N,\N,3.621,0.00518926,EVS_AA_AF,DSPP
625344,4:88537387:CAGCAGCGACAGCAGCGAT>C,88537387,NM_014208.3,NM_014208.3:c.3594_3611del,NP_055023.2:p.Ser1226_Ser1231del,1192-1197,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,10.09,0.00106838,EXAC_NFE_AF,DSPP
625345,4:88537393:C>T,88537393,NM_014208.3,NM_014208.3:c.3579C>T,NP_055023.2:p.Ser1193=,1193,5/5,\N,Benign,\N,synonymous_variant,LOW,\N,\N,11.58,0.0234,1KG_AFR_AF,DSPP
625346,4:88537395:ACAGCAGCGAT>A,88537395,NM_014208.3,NM_014208.3:c.3582_3591del,NP_055023.2:p.Asp1194GlufsTer117,1194-1197,5/5,\N,Pathogenic,Dentinogenesis imperfecta type II,frameshift_variant,HIGH,\N,\N,31,\N,\N,DSPP
625347,4:88537396:C>T,88537396,NM_014208.3,NM_014208.3:c.3582C>T,NP_055023.2:p.Asp1194=,1194,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,6.021,0.000458295,EXAC_AFR_AF,DSPP
625348,4:88537401:GCGA>G,88537401,NM_014208.3,NM_014208.3:c.3588_3590del,NP_055023.2:p.Asp1197del,1196-1197,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,5.006,\N,\N,DSPP
625349,4:88537402:C>T,88537402,NM_014208.3,NM_014208.3:c.3588C>T,NP_055023.2:p.Ser1196=,1196,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,11.35,\N,\N,DSPP
625350,4:88537405:T>C,88537405,NM_014208.3,NM_014208.3:c.3591T>C,NP_055023.2:p.Asp1197=,1197,5/5,\N,Benign,\N,synonymous_variant,LOW,\N,\N,0.015,0.4375,EXAC_FIN_AF,DSPP
625351,4:88537405:TAGCAGCGACAGCAGCGATAGTAGTGATAGCAGTGACAGCAGTGACAGCAGCGAC>T,88537405,NM_014208.3,NM_014208.3:c.3597_3650del,NP_055023.2:p.Ser1214_Ser1231del,1198-1215,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,10.16,0.00013113,EXAC_SAS_AF,DSPP
625352,4:88537405:TAGCAGCGACAGCAGC>T,88537405,NM_014208.3,NM_014208.3:c.3592_3606del,NP_055023.2:p.Ser1198_Ser1202del,1198-1202,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,12.8,0.0028222,EXAC_AFR_AF,DSPP
625353,4:88537408:C>T,88537408,NM_014208.3,NM_014208.3:c.3594C>T,NP_055023.2:p.Ser1198=,1198,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,9.394,0.000457457,EXAC_AFR_AF,DSPP
625354,4:88537411:C>T,88537411,NM_014208.3,NM_014208.3:c.3597C>T,NP_055023.2:p.Ser1199=,1199,5/5,\N,Benign,\N,synonymous_variant,LOW,\N,\N,12.28,0.0053,1KG_AFR_AF,DSPP
625355,4:88537411:CGACAGCAGCGATAGTAGT>C,88537411,NM_014208.3,NM_014208.3:c.3600_3617del,NP_055023.2:p.Ser1226_Ser1231del,1200-1205,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,12.39,0.000113302,EXAC_NFE_AF,DSPP
625356,4:88537412:G>A,88537412,NM_014208.3,NM_014208.3:c.3598G>A,NP_055023.2:p.Asp1200Asn,1200,5/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,16.62,0.001,1KG_EAS_AF,DSPP
625357,4:88537414:C>CAGCAGCGATAGTAGTGAT,88537414,NM_014208.3,NM_014208.3:c.3606_3623dup,NP_055023.2:p.Ser1226_Ser1231dup,1200-1201,5/5,\N,Unknown significance,\N,inframe_insertion,MODERATE,\N,\N,\N,\N,\N,DSPP
625358,4:88537414:CAGCAGCGATAGTAGTGAT>C,88537414,NM_014208.3,NM_014208.3:c.3606_3623del,NP_055023.2:p.Ser1226_Ser1231del,1201-1206,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,12.08,\N,\N,DSPP
625359,4:88537416:G>T,88537416,NM_014208.3,NM_014208.3:c.3602G>T,NP_055023.2:p.Ser1201Ile,1201,5/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,12.69,0.000461255,EXAC_AFR_AF,DSPP
625360,4:88537417:C>T,88537417,NM_014208.3,NM_014208.3:c.3603C>T,NP_055023.2:p.Ser1201=,1201,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,9.527,0.000465983,EXAC_AFR_AF,DSPP
625361,4:88537420:C>T,88537420,NM_014208.3,NM_014208.3:c.3606C>T,NP_055023.2:p.Ser1202=,1202,5/5,\N,Benign,\N,synonymous_variant,LOW,\N,\N,11.82,0.823529,EXAC_FIN_AF,DSPP
625362,4:88537420:CGATAGTAGT>C,88537420,NM_014208.3,NM_014208.3:c.3612_3620del,NP_055023.2:p.Ser1229_Ser1231del,1203-1205,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,\N,0.00056243,EXAC_AFR_AF,DSPP
625363,4:88537420:CGATAGTAGTGATAGCAGT>C,88537420,NM_014208.3,NM_014208.3:c.3609_3626del,NP_055023.2:p.Ser1226_Ser1231del,1203-1208,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,11.47,0.0001288,EXAC_NFE_AF,DSPP
625364,4:88537422:ATAG>A,88537422,NM_014208.3,NM_014208.3:c.3613_3615del,NP_055023.2:p.Ser1205del,1203-1204,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,11.78,\N,\N,DSPP
625365,4:88537423:T>C,88537423,NM_014208.3,NM_014208.3:c.3609T>C,NP_055023.2:p.Asp1203=,1203,5/5,\N,Benign,\N,synonymous_variant,LOW,\N,\N,0.01,0.3018,1KG_AFR_AF,DSPP
625366,4:88537425:GTAGTGA>G,88537425,NM_014208.3,NM_014208.3:c.3615_3620del,NP_055023.2:p.Asp1206_Ser1207del,1204-1206,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,\N,\N,\N,DSPP
625367,4:88537425:GTAGTGATAGCAGTGA>G,88537425,NM_014208.3,NM_014208.3:c.3612_3626del,NP_055023.2:p.Asp1206_Ser1210del,1204-1209,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,11.81,\N,\N,DSPP
625368,4:88537426:T>C,88537426,NM_014208.3,NM_014208.3:c.3612T>C,NP_055023.2:p.Ser1204=,1204,5/5,\N,Benign,\N,synonymous_variant,LOW,\N,\N,0.201,0.0129,1KG_AFR_AF,DSPP
625369,4:88537426:TAGTGATAGCAGTGACAGC>T,88537426,NM_014208.3,NM_014208.3:c.3618_3635del,NP_055023.2:p.Ser1226_Ser1231del,1205-1210,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,11.5,\N,\N,DSPP
625370,4:88537426:TAGTGATAGCAGTGACAGCAGTGACAGCAGCGACAGC>T,88537426,NM_014208.3,NM_014208.3:c.3618_3653del,NP_055023.2:p.Ser1220_Ser1231del,1205-1216,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,9.62,\N,\N,DSPP
625371,4:88537429:T>C,88537429,NM_014208.3,NM_014208.3:c.3615T>C,NP_055023.2:p.Ser1205=,1205,5/5,\N,Benign,\N,synonymous_variant,LOW,\N,\N,0.086,0.0333,1KG_AFR_AF,DSPP
625372,4:88537432:T>C,88537432,NM_014208.3,NM_014208.3:c.3618T>C,NP_055023.2:p.Asp1206=,1206,5/5,\N,Benign,\N,synonymous_variant,LOW,\N,\N,0.013,0.0102357,EVS_AA_AF,DSPP
625373,4:88537434:G>A,88537434,NM_014208.3,NM_014208.3:c.3620G>A,NP_055023.2:p.Ser1207Asn,1207,5/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,9.171,\N,\N,DSPP
625374,4:88537435:CAGTGACAGCAGT>C,88537435,NM_014208.3,NM_014208.3:c.3622_3633del,NP_055023.2:p.Ser1208_Ser1211del,1208-1211,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,11.6,\N,\N,DSPP
625375,4:88537437:G>A,88537437,NM_014208.3,NM_014208.3:c.3623G>A,NP_055023.2:p.Ser1208Asn,1208,5/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,5.935,0.00159574,EXAC_AFR_AF,DSPP
625376,4:88537438:T>C,88537438,NM_014208.3,NM_014208.3:c.3624T>C,NP_055023.2:p.Ser1208=,1208,5/5,\N,Benign,\N,synonymous_variant,LOW,\N,\N,0.128,0.4841,1KG_AFR_AF,DSPP
625377,4:88537438:TGACAGCAGTGACAGCAGC>T,88537438,NM_014208.3,NM_014208.3:c.3677_3694del,NP_055023.2:p.Ser1226_Ser1231del,1209-1214,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,10.53,\N,\N,DSPP
625378,4:88537441:C>T,88537441,NM_014208.3,NM_014208.3:c.3627C>T,NP_055023.2:p.Asp1209=,1209,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,8.185,0.00401376,EXAC_AFR_AF,DSPP
625379,4:88537444:C>T,88537444,NM_014208.3,NM_014208.3:c.3630C>T,NP_055023.2:p.Ser1210=,1210,5/5,\N,Benign,\N,synonymous_variant,LOW,\N,\N,9.125,0.00825309,EXAC_AFR_AF,DSPP
625380,4:88537447:T>C,88537447,NM_014208.3,NM_014208.3:c.3633T>C,NP_055023.2:p.Ser1211=,1211,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,0.115,\N,\N,DSPP
625381,4:88537447:TGACAGCAGC>T,88537447,NM_014208.3,NM_014208.3:c.3642_3650del,NP_055023.2:p.Ser1229_Ser1231del,1212-1214,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,10.16,\N,\N,DSPP
625382,4:88537450:C>CAGCAGCGACAGCAGTGACAGCAGCGACAGCAGTGACAGCAATGAA,88537450,NM_014208.3,NM_014208.3:c.3676_3677insATGAAAGCAGCGACAGCAGTGACAGCAGCGACAGCAGTGACAGCA,NP_055023.2:p.Ser1225_Ser1226insAsnGluSerSerAspSerSerAspSerSerAspSerSerAspSer,1212-1213,5/5,\N,Unknown significance,\N,inframe_insertion,MODERATE,\N,\N,1.07,\N,\N,DSPP
625383,4:88537450:C>T,88537450,NM_014208.3,NM_014208.3:c.3636C>T,NP_055023.2:p.Asp1212=,1212,5/5,\N,Benign,\N,synonymous_variant,LOW,\N,\N,6.198,0.0747342,EVS_AA_AF,DSPP
625384,4:88537453:C>T,88537453,NM_014208.3,NM_014208.3:c.3639C>T,NP_055023.2:p.Ser1213=,1213,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,8.994,0.0008,1KG_AFR_AF,DSPP
625385,4:88537456:C>T,88537456,NM_014208.3,NM_014208.3:c.3642C>T,NP_055023.2:p.Ser1214=,1214,5/5,\N,Benign,\N,synonymous_variant,LOW,\N,\N,10.86,0.0285088,EVS_AA_AF,DSPP
625386,4:88537459:C>T,88537459,NM_014208.3,NM_014208.3:c.3645C>T,NP_055023.2:p.Asp1215=,1215,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,2.539,\N,\N,DSPP
625387,4:88537464:GTGA>G,88537464,NM_014208.3,NM_014208.3:c.3651_3653del,NP_055023.2:p.Asp1218del,1217-1218,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,10.21,\N,\N,DSPP
625388,4:88537465:T>C,88537465,NM_014208.3,NM_014208.3:c.3651T>C,NP_055023.2:p.Ser1217=,1217,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,0.386,0.000960615,EXAC_AFR_AF,DSPP
625389,4:88537467:ACAG>A,88537467,NM_014208.3,NM_014208.3:c.3658_3660del,NP_055023.2:p.Ser1220del,1218-1219,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,10.42,0.0019402,EXAC_NFE_AF,DSPP
625390,4:88537468:CAGCAGCGACAGCAGT>C,88537468,NM_014208.3,NM_014208.3:c.3655_3669del,NP_055023.2:p.Ser1219_Ser1223del,1219-1223,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,13.08,\N,\N,DSPP
625391,4:88537471:CAGCG>C,88537471,NM_014208.3,NM_014208.3:c.3659_3662del,NP_055023.2:p.Ser1220ThrfsTer93,1220-1221,5/5,\N,Unknown significance,\N,frameshift_variant,HIGH,\N,\N,26.5,\N,\N,DSPP
625392,4:88537474:C>T,88537474,NM_014208.3,NM_014208.3:c.3660C>T,NP_055023.2:p.Ser1220=,1220,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,12.27,0.000114626,EXAC_NFE_AF,DSPP
625393,4:88537475:G>T,88537475,NM_014208.3,NM_014208.3:c.3661G>T,NP_055023.2:p.Asp1221Tyr,1221,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,4.924,0.000128074,EXAC_SAS_AF,DSPP
625394,4:88537479:G>T,88537479,NM_014208.3,NM_014208.3:c.3665G>T,NP_055023.2:p.Ser1222Ile,1222,5/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,13.91,0.000478469,EXAC_AFR_AF,DSPP
625395,4:88537483:T>C,88537483,NM_014208.3,NM_014208.3:c.3669T>C,NP_055023.2:p.Ser1223=,1223,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,0.361,0.00185874,EVS_AA_AF,DSPP
625396,4:88537483:TGACAGCAGC>T,88537483,NM_014208.3,NM_014208.3:c.3678_3686del,NP_055023.2:p.Ser1229_Ser1231del,1224-1226,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,13.89,0.000255951,EXAC_SAS_AF,DSPP
625397,4:88537491:G>A,88537491,NM_014208.3,NM_014208.3:c.3677G>A,NP_055023.2:p.Ser1226Asn,1226,5/5,\N,Benign,\N,missense_variant,MODERATE,\N,\N,9.014,0.0287,1KG_AFR_AF,DSPP
625398,4:88537492:C>T,88537492,NM_014208.3,NM_014208.3:c.3678C>T,NP_055023.2:p.Ser1226=,1226,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,12.53,0.000115447,EXAC_NFE_AF,DSPP
625399,4:88537495:CAGCAGTGACAGCAATGAAAGCAGCGACAGCAGTGACAGCAGCGAT>C,88537495,NM_014208.3,NM_014208.3:c.3695_3739del,NP_055023.2:p.Asn1232_Ser1246del,1228-1242,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,11.6,\N,\N,DSPP
625400,4:88537497:G>T,88537497,NM_014208.3,NM_014208.3:c.3683G>T,NP_055023.2:p.Ser1228Ile,1228,5/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,15.52,\N,\N,DSPP
625401,4:88537501:T>C,88537501,NM_014208.3,NM_014208.3:c.3687T>C,NP_055023.2:p.Ser1229=,1229,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,1.33,\N,\N,DSPP
625402,4:88537504:CAGCAATGAA>C,88537504,NM_014208.3,NM_014208.3:c.3695_3703del,NP_055023.2:p.Asn1232_Ser1234del,1231-1233,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,13.38,\N,\N,DSPP
625403,4:88537509:A>G,88537509,NM_014208.3,NM_014208.3:c.3695A>G,NP_055023.2:p.Asn1232Ser,1232,5/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,0.02,0.000603136,EXAC_AFR_AF,DSPP
625404,4:88537513:A>C,88537513,NM_014208.3,NM_014208.3:c.3699A>C,NP_055023.2:p.Glu1233Asp,1233,5/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,0.001,0.000611247,EXAC_AFR_AF,DSPP
625405,4:88537519:C>T,88537519,NM_014208.3,NM_014208.3:c.3705C>T,NP_055023.2:p.Ser1235=,1235,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,11.29,0.00160256,EXAC_EAS_AF,DSPP
625406,4:88537522:C>CAGCAGTGACAGCAGCGAT,88537522,NM_014208.3,NM_014208.3:c.3724_3741dup,NP_055023.2:p.Asp1242_Ser1247dup,1236-1237,5/5,\N,Unknown significance,\N,inframe_insertion,MODERATE,\N,\N,9.193,\N,\N,DSPP
625407,4:88537522:C>T,88537522,NM_014208.3,NM_014208.3:c.3708C>T,NP_055023.2:p.Asp1236=,1236,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,7.71,\N,\N,DSPP
625408,4:88537528:T>C,88537528,NM_014208.3,NM_014208.3:c.3714T>C,NP_055023.2:p.Ser1238=,1238,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,1.22,0.000127877,EXAC_SAS_AF,DSPP
625409,4:88537531:CAGCAGCGAT>C,88537531,NM_014208.3,NM_014208.3:c.3723_3731del,NP_055023.2:p.Asp1245_Ser1247del,1240-1242,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,14.31,\N,\N,DSPP
625410,4:88537540:TAGCAGTGA>T,88537540,NM_014208.3,NM_014208.3:c.3727_3734del,NP_055023.2:p.Ser1243GlnfsTer6,1243-1245,5/5,\N,Unknown significance,\N,frameshift_variant,HIGH,\N,\N,26.2,0.000113688,EXAC_NFE_AF,DSPP
625411,4:88537540:TAGCAGTGACAGCAGCAAC>T,88537540,NM_014208.3,NM_014208.3:c.3742_3759del,NP_055023.2:p.Asn1248_Ser1253del,1243-1248,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,9.259,0.000129299,EXAC_SAS_AF,DSPP
625412,4:88537540:T>C,88537540,NM_014208.3,NM_014208.3:c.3726T>C,NP_055023.2:p.Asp1242=,1242,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,0.015,0.000258598,EXAC_SAS_AF,DSPP
625413,4:88537547:GACAGCAGCA>G,88537547,NM_014208.3,NM_014208.3:c.3741_3749del,NP_055023.2:p.Asn1248_Ser1250del,1245-1248,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,9.111,\N,\N,DSPP
625414,4:88537556:A>G,88537556,NM_014208.3,NM_014208.3:c.3742A>G,NP_055023.2:p.Asn1248Asp,1248,5/5,\N,Benign,\N,missense_variant,MODERATE,\N,\N,0.096,0.155894,EXAC_AFR_AF,DSPP
625415,4:88537558:C>T,88537558,NM_014208.3,NM_014208.3:c.3744C>T,NP_055023.2:p.Asn1248=,1248,5/5,\N,Benign,\N,synonymous_variant,LOW,\N,\N,6.063,0.0135624,EVS_AA_AF,DSPP
625416,4:88537567:C>G,88537567,NM_014208.3,NM_014208.3:c.3753C>G,NP_055023.2:p.Asp1251Glu,1251,5/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,0.448,0.000111907,EXAC_NFE_AF,DSPP
625417,4:88537572:G>A,88537572,NM_014208.3,NM_014208.3:c.3758G>A,NP_055023.2:p.Ser1253Asn,1253,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,9.506,\N,\N,DSPP
625418,4:88537573:C>T,88537573,NM_014208.3,NM_014208.3:c.3759C>T,NP_055023.2:p.Ser1253=,1253,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,12.77,\N,\N,DSPP
625419,4:88537574:G>A,88537574,NM_014208.3,NM_014208.3:c.3760G>A,NP_055023.2:p.Asp1254Asn,1254,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,13.48,\N,\N,DSPP
625420,4:88537576:C>A,88537576,NM_014208.3,NM_014208.3:c.3762C>A,NP_055023.2:p.Asp1254Glu,1254,5/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,12.47,\N,\N,DSPP
625421,4:88537585:T>C,88537585,NM_014208.3,NM_014208.3:c.3771T>C,NP_055023.2:p.Asp1257=,1257,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,0.066,\N,\N,DSPP
625422,4:88537585:T>G,88537585,NM_014208.3,NM_014208.3:c.3771T>G,NP_055023.2:p.Asp1257Glu,1257,5/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,1.783,\N,\N,DSPP
625423,4:88537586:A>G,88537586,NM_014208.3,NM_014208.3:c.3772A>G,NP_055023.2:p.Ser1258Gly,1258,5/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,2.894,0.0008,1KG_AFR_AF,DSPP
625424,4:88537598:A>G,88537598,NM_014208.3,NM_014208.3:c.3784A>G,NP_055023.2:p.Thr1262Ala,1262,5/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,7.688,0.000165837,EVS_EA_AF,DSPP
625425,4:88537601:T>A,88537601,NM_014208.3,NM_014208.3:c.3787T>A,NP_055023.2:p.Ser1263Thr,1263,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,15.13,0.000165837,EVS_EA_AF,DSPP
625426,4:88537622:G>A,88537622,NM_014208.3,NM_014208.3:c.3808G>A,NP_055023.2:p.Asp1270Asn,1270,5/5,\N,Benign,\N,missense_variant,MODERATE,\N,\N,6.303,0.0129,1KG_AFR_AF,DSPP
625427,4:88537638:C>T,88537638,NM_014208.3,NM_014208.3:c.3824C>T,NP_055023.2:p.Ser1275Phe,1275,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,12.41,0.000126358,EXAC_SAS_AF,DSPP
625428,4:88537642:T>C,88537642,NM_014208.3,NM_014208.3:c.3828T>C,NP_055023.2:p.Gly1276=,1276,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,0.023,0.001,1KG_SAS_AF,DSPP
625429,4:88537645:C>T,88537645,NM_014208.3,NM_014208.3:c.3831C>T,NP_055023.2:p.Asn1277=,1277,5/5,\N,Unknown significance,\N,synonymous_variant,LOW,\N,\N,9.604,0.001,1KG_SAS_AF,DSPP
625430,4:88537648:TAAC>T,88537648,NM_014208.3,NM_014208.3:c.3840_3842del,NP_055023.2:p.Asn1281del,1279,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,8.137,\N,\N,DSPP
625431,4:88537660:AAGTGAC>A,88537660,NM_014208.3,NM_014208.3:c.3864_3869del,NP_055023.2:p.Asp1288_Ser1289del,1283-1284,5/5,\N,Unknown significance,\N,inframe_deletion,MODERATE,\N,\N,13.17,\N,\N,DSPP
625432,4:88537678:C>G,88537678,NM_014208.3,NM_014208.3:c.3864C>G,NP_055023.2:p.Asp1288Glu,1288,5/5,\N,Likely benign,\N,missense_variant,MODERATE,\N,\N,22.3,0.0015,1KG_AFR_AF,DSPP
625433,4:88537682:G>T,88537682,NM_014208.3,NM_014208.3:c.3868G>T,NP_055023.2:p.Glu1290Ter,1290,5/5,\N,Unknown significance,\N,stop_gained,HIGH,\N,\N,44,0.00245098,EXAC_AMR_AF,DSPP
625434,4:88537698:A>G,88537698,NM_014208.3,NM_014208.3:c.3884A>G,NP_055023.2:p.Asn1295Ser,1295,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,17.09,0.000126358,EXAC_SAS_AF,DSPP
625435,4:88537707:C>A,88537707,NM_014208.3,NM_014208.3:c.3893C>A,NP_055023.2:p.Thr1298Asn,1298,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,22.5,\N,\N,DSPP
625436,4:88537715:G>T,88537715,NM_014208.3,NM_014208.3:c.3901G>T,NP_055023.2:p.Asp1301Tyr,1301,5/5,\N,Unknown significance,\N,missense_variant,MODERATE,\N,\N,22,0.0038,1KG_AFR_AF,DSPP
625437,4:88537718:T>C,88537718,NM_014208.3,NM_014208.3:c.3904T>C,NP_055023.2:p.Ter1302GlnextTer18,1302,5/5,\N,Unknown significance,\N,stop_lost,HIGH,\N,\N,22.7,0.000905797,EXAC_AFR_AF,DSPP
625438,4:88537723:C>T,88537723,NM_014208.3,NM_014208.3:c.*3C>T,\N,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,15.8,0.001,1KG_SAS_AF,DSPP
625439,4:88537733:A>C,88537733,NM_014208.3,NM_014208.3:c.*13A>C,\N,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,3.073,\N,\N,DSPP
625440,4:88537737:G>A,88537737,NM_014208.3,NM_014208.3:c.*17G>A,\N,\N,5/5,\N,Benign,\N,3_prime_UTR_variant,MODIFIER,\N,\N,2.852,0.9265,1KG_AMR_AF,DSPP
625441,4:88537745:C>T,88537745,NM_014208.3,NM_014208.3:c.*25C>T,\N,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,6.246,0.000114077,EXAC_NFE_AF,DSPP
625442,4:88537783:G>T,88537783,NM_014208.3,NM_014208.3:c.*63G>T,\N,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,3.814,0.001,1KG_EUR_AF,DSPP
625443,4:88537806:G>A,88537806,NM_014208.3,NM_014208.3:c.*86G>A,\N,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,2.793,\N,\N,DSPP
625444,4:88537826:G>A,88537826,NM_014208.3,NM_014208.3:c.*106G>A,\N,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,1.064,\N,\N,DSPP
625445,4:88537843:A>G,88537843,NM_014208.3,NM_014208.3:c.*123A>G,\N,\N,5/5,\N,Benign,\N,3_prime_UTR_variant,MODIFIER,\N,\N,1.917,0.0123,1KG_SAS_AF,DSPP
625446,4:88537858:T>A,88537858,NM_014208.3,NM_014208.3:c.*138T>A,\N,\N,5/5,\N,Benign,\N,3_prime_UTR_variant,MODIFIER,\N,\N,6.684,0.0053,1KG_AFR_AF,DSPP
625447,4:88537894:G>A,88537894,NM_014208.3,NM_014208.3:c.*174G>A,\N,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,6.495,\N,\N,DSPP
625448,4:88537915:A>G,88537915,NM_014208.3,NM_014208.3:c.*195A>G,\N,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,3.565,\N,\N,DSPP
625449,4:88537916:T>G,88537916,NM_014208.3,NM_014208.3:c.*196T>G,\N,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,3.91,0.001,1KG_EAS_AF,DSPP
625450,4:88537944:C>A,88537944,NM_014208.3,NM_014208.3:c.*224C>A,\N,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,3.776,\N,\N,DSPP
625451,4:88537947:G>C,88537947,NM_014208.3,NM_014208.3:c.*227G>C,\N,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,3.8,0.0043,1KG_AMR_AF,DSPP
625452,4:88537975:A>C,88537975,NM_014208.3,NM_014208.3:c.*255A>C,\N,\N,5/5,\N,Unknown significance,\N,3_prime_UTR_variant,MODIFIER,\N,\N,14.01,0.001,1KG_EUR_AF,DSP