id variation gene hgvs_protein_change hgvs_nucleotide_change variantlocale pathogenicity disease pubmed_id dbsnp summary_insilico summary_frequency summary_published comments lrt_omega phylop_score phylop_pred sift_score sift_pred polyphen2_score polyphen2_pred lrt_score lrt_pred mutationtaster_score mutationtaster_pred gerp_nr gerp_rs gerp_pred evs_ea_ac evs_ea_an evs_ea_af evs_aa_ac evs_aa_an evs_aa_af evs_all_ac evs_all_an evs_all_af otoscope_aj_ac otoscope_aj_an otoscope_aj_af otoscope_co_ac otoscope_co_an otoscope_co_af otoscope_us_ac otoscope_us_an otoscope_us_af otoscope_jp_ac otoscope_jp_an otoscope_jp_af otoscope_es_ac otoscope_es_an otoscope_es_af otoscope_tr_ac otoscope_tr_an otoscope_tr_af otoscope_all_ac otoscope_all_an otoscope_all_af tg_afr_ac tg_afr_an tg_afr_af tg_eur_ac tg_eur_an tg_eur_af tg_amr_ac tg_amr_an tg_amr_af tg_eas_ac tg_eas_an tg_eas_af tg_sas_ac tg_sas_an tg_sas_af tg_all_ac tg_all_an tg_all_af exac_afr_ac exac_afr_an exac_afr_af exac_amr_ac exac_amr_an exac_amr_af exac_eas_ac exac_eas_an exac_eas_af exac_fin_ac exac_fin_an exac_fin_af exac_nfe_ac exac_nfe_an exac_nfe_af exac_oth_ac exac_oth_ant exac_oth_af exac_sas_ac exac_sas_an exac_sas_af exac_all_ac exac_all_an exac_all_af
329658 "chr13:20796112:G>A" "GJB6" "NM_006783:c.*722C>T" "THREE_PRIME_EXON" "Benign" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 0 400 0 0 320 0 0 320 0 0 400 0 0 360 0 1 200 0.005 1 2000 0.0005
329659 "chr13:20796120:G>A" "GJB6" "NM_006783:c.*714C>T" "THREE_PRIME_EXON" "Benign" "rs76179836" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 4 400 0.01 2 320 0.00625 1 320 0.003125 0 400 0 4 360 0.0111111 0 200 0 11 2000 0.0055 1 1322 0.0008 12 1006 0.0119 7 694 0.0101 2 1008 0.002 5 978 0.0051 27 5008 0.00539137
329660 "chr13:20796132:T>G" "GJB6" "NM_006783:c.*702A>C" "THREE_PRIME_EXON" "Unknown significance" "rs756119531" "This variant is a VUS because it does not have enough information."
329661 "chr13:20796163:G>T" "GJB6" "NM_006783:c.*671C>A" "THREE_PRIME_EXON" "Unknown significance" "rs573607727" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
329662 "chr13:20796168:G>A" "GJB6" "NM_006783:c.*666C>T" "THREE_PRIME_EXON" "Unknown significance" "rs777860026" "This variant is a VUS because it does not have enough information." 0 400 0 0 320 0 1 320 0.003125 0 400 0 0 360 0 0 200 0 1 2000 0.0005
329663 "chr13:20796170:T>C" "GJB6" "NM_006783:c.*664A>G" "THREE_PRIME_EXON" "Unknown significance" "rs373737271" "This variant is a VUS because it does not have enough information."
329664 "chr13:20796178:C>T" "GJB6" "NM_006783:c.*656G>A" "THREE_PRIME_EXON" "Unknown significance" "rs367689408" "This variant is a VUS because it does not have enough information." 4 1322 0.003 0 1006 0 0 694 0 1 1008 0.001 4 978 0.0041 9 5008 0.00179712
329665 "chr13:20796179:G>A" "GJB6" "NM_006783:c.*655C>T" "THREE_PRIME_EXON" "Unknown significance" "rs182597970" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 1 5008 0.000199681
329666 "chr13:20796183:G>A" "GJB6" "NM_006783:c.*651C>T" "THREE_PRIME_EXON" "Unknown significance" "rs749326980" "This variant is a VUS because it does not have enough information."
329667 "chr13:20796206:C>T" "GJB6" "NM_006783:c.*628G>A" "THREE_PRIME_EXON" "Unknown significance" "rs577545882" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 1 5008 0.000199681
329668 "chr13:20796209:A>T" "GJB6" "NM_006783:c.*625T>A" "THREE_PRIME_EXON" "Unknown significance" "rs545121504" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
329669 "chr13:20796216:C>T" "GJB6" "NM_006783:c.*618G>A" "THREE_PRIME_EXON" "Unknown significance" "rs376902849" "This variant is a VUS because it does not have enough information."
329670 "chr13:20796217:G>A" "GJB6" "NM_006783:c.*617C>T" "THREE_PRIME_EXON" "Unknown significance" "rs560005043" "This variant is a VUS because it does not have enough information." 2 1322 0.0015 0 1006 0 0 694 0 0 1008 0 0 978 0 2 5008 0.000399361
329671 "chr13:20796221:A>C" "GJB6" "NM_006783:c.*613T>G" "THREE_PRIME_EXON" "Unknown significance" "rs41292217" "This variant is a VUS because it does not have enough information." 0 1322 0 3 1006 0.003 0 694 0 0 1008 0 0 978 0 3 5008 0.000599042
329672 "chr13:20796275:G>A" "GJB6" "NM_006783:c.*559C>T" "THREE_PRIME_EXON" "Unknown significance" "This variant is a VUS because it does not have enough information." 0 400 0 1 320 0.003125 0 320 0 0 400 0 0 360 0 0 200 0 1 2000 0.0005
329673 "chr13:20796319:A>G" "GJB6" "NM_006783:c.*515T>C" "THREE_PRIME_EXON" "Unknown significance" "rs543246891" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 0 1008 0 1 978 0.001 1 5008 0.000199681
329674 "chr13:20796321:A>G" "GJB6" "NM_006783:c.*513T>C" "THREE_PRIME_EXON" "Unknown significance" "rs746051346" "This variant is a VUS because it does not have enough information."
329675 "chr13:20796346:T>C" "GJB6" "NM_006783:c.*488A>G" "THREE_PRIME_EXON" "Unknown significance" "rs141993627" "This variant is a VUS because it does not have enough information." 2 1322 0.0015 0 1006 0 0 694 0 0 1008 0 0 978 0 2 5008 0.000399361
329676 "chr13:20796411:G>A" "GJB6" "NM_006783:c.*423C>T" "THREE_PRIME_EXON" "Unknown significance" "rs200952332" "This variant is a VUS because it does not have enough information."
329677 "chr13:20796430:A>G" "GJB6" "NM_006783:c.*404T>C" "THREE_PRIME_EXON" "Unknown significance" "rs532082190" "This variant is a VUS because it does not have enough information." 0 1322 0 1 1006 0.001 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
329678 "chr13:20796445:A>G" "GJB6" "NM_006783:c.*389T>C" "THREE_PRIME_EXON" "Unknown significance" "rs370208447" "This variant is a VUS because it does not have enough information."
329679 "chr13:20796456:T>A" "GJB6" "NM_006783:c.*378A>T" "THREE_PRIME_EXON" "Benign" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 2 400 0.005 0 320 0 4 320 0.0125 1 400 0.0025 1 360 0.00277778 2 200 0.01 10 2000 0.005
329680 "chr13:20796460:A>G" "GJB6" "NM_006783:c.*374T>C" "THREE_PRIME_EXON" "Unknown significance" "rs550490458" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 1 5008 0.000199681
329681 "chr13:20796464:T>C" "GJB6" "NM_006783:c.*370A>G" "THREE_PRIME_EXON" "Benign" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 1 400 0.0025 0 320 0 4 320 0.0125 1 400 0.0025 1 360 0.00277778 2 200 0.01 9 2000 0.0045
329682 "chr13:20796466:C>A" "GJB6" "NM_006783:c.*368G>T" "THREE_PRIME_EXON" "Benign" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 2 400 0.005 0 320 0 4 320 0.0125 0 400 0 2 360 0.00555556 4 200 0.02 12 2000 0.006
329683 "chr13:20796497:C>A" "GJB6" "NM_006783:c.*337G>T" "THREE_PRIME_EXON" "Benign" "rs7333214" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 132 400 0.33 69 320 0.215625 52 320 0.1625 199 400 0.4975 80 360 0.222222 40 200 0.2 572 2000 0.286 672 1322 0.5083 166 1006 0.165 116 694 0.1671 227 1008 0.2252 95 978 0.0971 1276 5008 0.254792
329684 "chr13:20796498:G>A" "GJB6" "NM_006783:c.*336C>T" "THREE_PRIME_EXON" "Unknown significance" "rs374503686" "This variant is a VUS because it does not have enough information."
329685 "chr13:20796533:C>G" "GJB6" "NM_006783:c.*301G>C" "THREE_PRIME_EXON" "Benign" "rs112723181" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 1 400 0.0025 0 320 0 0 320 0 0 400 0 3 360 0.00833333 0 200 0 4 2000 0.002 88 1322 0.0666 0 1006 0 7 694 0.0101 0 1008 0 0 978 0 95 5008 0.0189696
329686 "chr13:20796542:A>G" "GJB6" "NM_006783:c.*292T>C" "THREE_PRIME_EXON" "Unknown significance" "rs376079185" "This variant is a VUS because it does not have enough information."
329687 "chr13:20796607:->A" "GJB6" "NM_006783:c.*227_*228insT" "THREE_PRIME_EXON" "Benign" "rs553891666" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 28 1322 0.0212 0 1006 0 0 694 0 0 1008 0 0 978 0 28 5008 0.00559105
329688 "chr13:20796642:G>A" "GJB6" "NM_006783:c.*192C>T" "THREE_PRIME_EXON" "Unknown significance" "rs761029974" "This variant is a VUS because it does not have enough information." 0 400 0 0 320 0 1 320 0.003125 0 400 0 0 360 0 0 200 0 1 2000 0.0005
329689 "chr13:20796659:A>C" "GJB6" "NM_006783:c.*175T>G" "THREE_PRIME_EXON" "Unknown significance" "rs186874138" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 1 5008 0.000199681
329690 "chr13:20796663:C>T" "GJB6" "NM_006783:c.*171G>A" "THREE_PRIME_EXON" "Unknown significance" "rs192122304" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 0 978 0 1 5008 0.000199681
329691 "chr13:20796689:C>T" "GJB6" "NM_006783:c.*145G>A" "THREE_PRIME_EXON" "Unknown significance" "This variant is a VUS because it does not have enough information." 0 400 0 0 320 0 0 320 0 1 400 0.0025 0 360 0 0 200 0 1 2000 0.0005
329692 "chr13:20796719:T>C" "GJB6" "NM_006783:c.*115A>G" "THREE_PRIME_EXON" "Unknown significance" "This variant is a VUS because it does not have enough information." 0 400 0 1 320 0.003125 0 320 0 0 400 0 0 360 0 0 200 0 1 2000 0.0005
329693 "chr13:20796771:G>T" "GJB6" "NM_006783:c.*63C>A" "THREE_PRIME_EXON" "Unknown significance" "rs536309664" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 0 978 0 1 5008 0.000199681
329694 "chr13:20796782:T>C" "GJB6" "NM_006783:c.*52A>G" "THREE_PRIME_EXON" "Unknown significance" "rs571030455" "This variant is a VUS because it does not have enough information."
329695 "chr13:20796791:C>T" "GJB6" "NM_006783:c.*43G>A" "THREE_PRIME_EXON" "Unknown significance" "rs748558021" "This variant is a VUS because it does not have enough information." 0 10402 0 0 11576 0 0 8652 0 0 6614 0 1 66718 0.0000149885 0 908 0 0 16510 0 1 121380 0.00000823859
329696 "chr13:20796793:G>A" "GJB6" "NM_006783:c.*41C>T" "THREE_PRIME_EXON" "Unknown significance" "rs772501788" "This variant is a VUS because it does not have enough information." 0 10402 0 0 11576 0 0 8652 0 0 6614 0 0 66718 0 0 908 0 1 16510 0.0000605694 1 121380 0.00000823859
329697 "chr13:20796795:A>C" "GJB6" "NM_006783:c.*39T>G" "THREE_PRIME_EXON" "Unknown significance" "rs778441412" "This variant is a VUS because it does not have enough information." 0 10402 0 7 11576 0.000604699 0 8652 0 0 6614 0 0 66720 0 0 908 0 0 16510 0 7 121382 0.0000576692
329698 "chr13:20796804:A>G" "GJB6" "NM_006783:c.*30T>C" "THREE_PRIME_EXON" "Unknown significance" "rs548806574" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 0 1008 0 1 978 0.001 1 5008 0.000199681 0 10402 0 0 11576 0 0 8654 0 0 6614 0 0 66722 0 0 908 0 6 16510 0.000363416 6 121386 0.0000494291
329699 "chr13:20796808:C>T" "GJB6" "NM_006783:c.*26G>A" "THREE_PRIME_EXON" "Unknown significance" "rs771466506" "This variant is a VUS because it does not have enough information." 0 10402 0 0 11576 0 1 8654 0.000115554 0 6614 0 1 66724 0.0000149871 0 908 0 0 16510 0 2 121388 0.0000164761
329700 "chr13:20796809:G>A" "GJB6" "NM_006783:c.*25C>T" "THREE_PRIME_EXON" "Unknown significance" "rs112845420" "This variant is a VUS because it does not have enough information." 0 8600 0 5 4404 0.00113533 5 13004 0.000384497 11 10402 0.00105749 0 11576 0 0 8654 0 0 6614 0 0 66724 0 0 908 0 1 16510 0.0000605694 12 121388 0.0000988566
329701 "chr13:20796816:C>T" "GJB6" "NM_006783:c.*18G>A" "THREE_PRIME_EXON" "Unknown significance" "rs759639082" "This variant is a VUS because it does not have enough information." 0 10402 0 0 11576 0 0 8654 0 0 6614 0 1 66730 0.0000149858 0 908 0 0 16510 0 1 121394 0.00000823764
329702 "chr13:20796825:T>-" "GJB6" "NM_006783:c.*9delA" "THREE_PRIME_EXON" "Unknown significance" "rs755713634" "This variant is a VUS because it does not have enough information." 0 10402 0 0 11576 0 0 8654 0 0 6614 0 1 66730 0.0000149858 0 908 0 0 16510 0 1 121394 0.00000823764
329703 "chr13:20796826:T>G" "GJB6" "NM_006783:c.*8A>C" "THREE_PRIME_EXON" "Unknown significance" "rs769932318" "This variant is a VUS because it does not have enough information." 0 10402 0 0 11578 0 0 8654 0 0 6614 0 4 66730 0.0000599431 0 908 0 0 16510 0 4 121396 0.00003295
329704 "chr13:20796835:T>C" "GJB6" "NM_006783:p.Stop262Stop" "NM_006783:c.785A>G" "EXON3" "Unknown significance" "rs567122461" "This variant is a VUS because it does not have enough information." 0 1322 0 1 1006 0.001 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681 0 10402 0 0 11578 0 0 8654 0 0 6614 0 1 66732 0.0000149853 0 908 0 0 16510 0 1 121398 0.00000823737
329705 "chr13:20796839:T>C" "GJB6" "NM_006783:p.Ser261Gly" "NM_006783:c.781A>G" "EXON3" "Unknown significance" "rs143962007" "This variant is a VUS because it does not have enough information." 1.061 "C" "0.039" "D" "0.779" "P" 0.124511 "N" 0.956227 "N" "5.61" "C" 0 8600 0 2 4406 0.000453926 2 13006 0.000153775 6 10402 0.000576812 0 11578 0 0 8654 0 0 6614 0 0 66732 0 0 908 0 0 16510 0 6 121398 0.0000494242
329706 "chr13:20796839:T>A" "GJB6" "NM_006783:p.Ser261Cys" "NM_006783:c.781A>T" "EXON3" "Unknown significance" "rs143962007" "This variant is a VUS because it does not have enough information." 1.061 "C" "0.003" "D" "0.997" "D" 0.124511 "N" 0.839143 "N" "5.61" "C" 0 10402 0 0 11578 0 0 8654 0 1 6614 0.000151194 0 66732 0 0 908 0 0 16510 0 1 121398 0.00000823737
329707 "chr13:20796845:A>G" "GJB6" "NM_006783:p.Phe259Leu" "NM_006783:c.775T>C" "EXON3" "Unknown significance" "rs750204590" "This variant is a VUS because it does not have enough information." 1.199 "C" "0.172" "T" "0.882" "P" 0.267772 "N" 0.777773 "D" "5.61" "C"
329708 "chr13:20796847:C>G" "GJB6" "NM_006783:p.Gly258Ala" "NM_006783:c.773G>C" "EXON3" "Likely benign" "rs760594015" "Pathogenicity is based on prediction data only. 2 out of 6 predictions were pathogenic." 0.935 "N" "0.103" "T" "0.989" "D" 0.028348 "N" 0.953863 "N" "5.61" "C" 0 10398 0 0 11578 0 0 8654 0 0 6614 0 1 66730 0.0000149858 0 908 0 0 16510 0 1 121392 0.00000823778
329709 "chr13:20796848:C>T" "GJB6" "NM_006783:p.Gly258Ser" "NM_006783:c.772G>A" "EXON3" "Likely benign" "rs766305993" "Pathogenicity is based on prediction data only. 2 out of 6 predictions were pathogenic." 0.077 "N" "0.117" "T" "0.997" "D" 0.028348 "N" 0.991055 "N" "4.54" "C" 0 10398 0 0 11578 0 0 8654 0 0 6614 0 1 66730 0.0000149858 0 908 0 0 16510 0 1 121392 0.00000823778
329710 "chr13:20796854:T>C" "GJB6" "NM_006783:p.Ile256Val" "NM_006783:c.766A>G" "EXON3" "Likely benign" "rs149845267" "Pathogenicity is based on prediction data only. 2 out of 6 predictions were pathogenic." 1.061 "C" "0.952" "T" "0.0" "B" 0.702482 "N" 1 "N" "3.18" "C" 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681 1 10398 0.0000961723 1 11578 0.0000863707 0 8652 0 0 6614 0 0 66730 0 0 908 0 0 16510 0 2 121390 0.0000164758
329711 "chr13:20796864:->ATGCA" "GJB6" "NM_006783:c.756_757insTGCAT" "EXON3" "Unknown significance" "rs777414019" "This variant is a VUS because it does not have enough information."
329712 "chr13:20796864:A>G" "GJB6" "NM_006783:p.Gly252Gly" "NM_006783:c.756T>C" "EXON3" "Unknown significance" "rs754458181" "This variant is a VUS because it does not have enough information." 1 10398 0.0000961723 0 11578 0 0 8654 0 0 6612 0 0 66726 0 0 908 0 0 16510 0 1 121386 0.00000823818
329713 "chr13:20796865:C>T" "GJB6" "NM_006783:p.Gly252Asp" "NM_006783:c.755G>A" "EXON3" "Likely benign" "rs778717409" "Pathogenicity is based on prediction data only. 1 out of 6 predictions were pathogenic." 0.935 "N" "0.116" "T" "0.089" "B" 0.404838 "N" 1 "N" "4.71" "C" 0 10398 0 0 11578 0 3 8654 0.000346661 0 6612 0 0 66730 0 0 908 0 0 16510 0 3 121390 0.0000247137
329714 "chr13:20796867:ACTA>-" "GJB6" "NM_006783:c.753_758delTAGT" "EXON3" "Unknown significance" "rs749587391" "This variant is a VUS because it does not have enough information."
329715 "chr13:20796867:A>C" "GJB6" "NM_006783:p.Ser251Arg" "NM_006783:c.753T>G" "EXON3" "Likely benign" "rs752343828" "Pathogenicity is based on prediction data only. 0 out of 6 predictions were pathogenic." -0.121 "N" "0.133" "T" "0.01" "B" 0.004736 "N" 0.999794 "N" "-10.2" "N" 1 10398 0.0000961723 0 11578 0 0 8654 0 0 6610 0 0 66726 0 0 908 0 0 16510 0 1 121384 0.00000823832
329716 "chr13:20796871:T>A" "GJB6" "NM_006783:p.Asp250Val" "NM_006783:c.749A>T" "EXON3" "Unknown significance" "rs758113938" "This variant is a VUS because it does not have enough information." 1.061 "C" "0.045" "D" "0.072" "B" 0.001599 "N" 1 "D" "5.57" "C" 0 10398 0 0 11578 0 0 8654 0 0 6610 0 0 66724 0 0 908 0 1 16510 0.0000605694 1 121382 0.00000823845
329717 "chr13:20796872:C>G" "GJB6" "NM_006783:p.Asp250His" "NM_006783:c.748G>C" "EXON3" "Unknown significance" "rs778351708" "This variant is a VUS because it does not have enough information." 0.935 "N" "0.043" "D" "0.357" "B" 0.001599 "N" 0.999528 "D" "5.57" "C"
329718 "chr13:20796876:->TGAATG" "GJB6" "NM_006783:c.744_745insCATTCA" "EXON3" "Unknown significance" "rs771265693" "This variant is a VUS because it does not have enough information."
329719 "chr13:20796878:T>C" "GJB6" "NM_006783:p.Ile248Val" "NM_006783:c.742A>G" "EXON3" "Likely benign" "rs747371119" "Pathogenicity is based on prediction data only. 2 out of 6 predictions were pathogenic." 1.061 "C" "0.28" "T" "0.38" "B" 0.087119 "N" 0.837354 "N" "5.57" "C" 0 10398 0 0 11578 0 1 8654 0.000115554 0 6612 0 0 66724 0 0 908 0 0 16510 0 1 121384 0.00000823832
329720 "chr13:20796881:G>C" "GJB6" "NM_006783:p.Leu247Val" "NM_006783:c.739C>G" "EXON3" "Unknown significance" "rs771392368" "This variant is a VUS because it does not have enough information." 1.048 "C" "0.12" "T" "0.987" "D" 0.454103 "N" 0.810512 "N" "3.82" "C" 0 10398 0 2 11578 0.000172741 0 8654 0 0 6614 0 0 66726 0 0 908 0 0 16510 0 2 121388 0.0000164761
329721 "chr13:20796884:C>T" "GJB6" "NM_006783:p.Glu246Lys" "NM_006783:c.736G>A" "EXON3" "Unknown significance" "rs781689203" "This variant is a VUS because it does not have enough information." 0.935 "N" "0.539" "T" "0.166" "B" 0.000042 "D" 0.99706 "D" "5.57" "C" 0 10398 0 0 11578 0 0 8654 0 0 6614 0 0 66726 0 0 908 0 5 16510 0.000302847 5 121388 0.0000411902
329722 "chr13:20796885:A>G" "GJB6" "NM_006783:p.Asn245Asn" "NM_006783:c.735T>C" "EXON3" "Unknown significance" "rs745965086" "This variant is a VUS because it does not have enough information." 0 10398 0 1 11578 0.0000863707 0 8654 0 0 6614 0 0 66726 0 0 908 0 0 16510 0 1 121388 0.00000823805
329723 "chr13:20796886:->T" "GJB6" "NM_006783:c.734_735insA" "EXON3" "Unknown significance" "rs779458847" "This variant is a VUS because it does not have enough information." 0 10398 0 0 11578 0 0 8654 0 0 6614 0 1 66726 0.0000149867 0 908 0 0 16510 0 1 121388 0.00000823805
329724 "chr13:20796890:T>G" "GJB6" "NM_006783:p.Met244Leu" "NM_006783:c.730A>C" "EXON3" "Likely benign" "rs769845331" "Pathogenicity is based on prediction data only. 1 out of 6 predictions were pathogenic." 0.122 "N" "0.89" "T" "0.0" "B" 0.100488 "N" 0.914975 "N" "0.0809" "C"
329725 "chr13:20796891:T>A" "GJB6" "NM_006783:p.Glu243Asp" "NM_006783:c.729A>T" "EXON3" "Likely benign" "rs775700786" "Pathogenicity is based on prediction data only. 2 out of 6 predictions were pathogenic." -0.227 "N" "0.339" "T" "0.985" "D" 0.499734 "N" 0.538164 "D" "-0.885" "N"
329726 "chr13:20796893:C>G" "GJB6" "NM_006783:p.Glu243Gln" "NM_006783:c.727G>C" "EXON3" "Unknown significance" "rs749567285" "This variant is a VUS because it does not have enough information." 0.935 "N" "0.093" "T" "0.991" "D" 0.499734 "N" 0.914727 "D" "5.57" "C"
329727 "chr13:20796897:C>T" "GJB6" "NM_006783:p.Gln241Gln" "NM_006783:c.723G>A" "EXON3" "Unknown significance" "rs556168075" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 0 1008 0 1 978 0.001 1 5008 0.000199681 0 10396 0 0 11576 0 0 8654 0 0 6614 0 0 66726 0 0 908 0 18 16510 0.00109025 18 121384 0.00014829
329728 "chr13:20796899:G>A" "GJB6" "NM_006783:p.Gln241Stop" "NM_006783:c.721C>T" "EXON3" "Unknown significance" "rs773027260" "This variant is a VUS because it does not have enough information." 1.048 "C" 0.918578 "N" 1 "D" "4.71" "C" 1 10394 0.0000962094 0 11576 0 0 8654 0 0 6614 0 0 66722 0 0 908 0 0 16510 0 1 121378 0.00000823873
329729 "chr13:20796903:A>T" "GJB6" "NM_006783:p.Ser239Arg" "NM_006783:c.717T>A" "EXON3" "Likely benign" "rs760492705" "Pathogenicity is based on prediction data only. 0 out of 6 predictions were pathogenic." -0.151 "N" "0.349" "T" "0.005" "B" 0.067258 "N" 0.965298 "N" "-1.33" "N" 0 10394 0 0 11576 0 0 8654 0 0 6614 0 0 66724 0 0 908 0 1 16510 0.0000605694 1 121380 0.00000823859
329730 "chr13:20796905:T>G" "GJB6" "NM_006783:p.Ser239Arg" "NM_006783:c.715A>C" "EXON3" "Likely benign" "rs200035713" "Pathogenicity is based on prediction data only. 2 out of 6 predictions were pathogenic." 1.061 "C" "0.349" "T" "0.005" "B" 0.067258 "N" 0.983093 "N" "3.14" "C"
329731 "chr13:20796909:C>T" "GJB6" "NM_006783:p.Lys237Lys" "NM_006783:c.711G>A" "EXON3" "Unknown significance" "rs766245553" "This variant is a VUS because it does not have enough information." 1 10394 0.0000962094 0 11576 0 0 8654 0 0 6614 0 0 66722 0 0 908 0 0 16510 0 1 121378 0.00000823873
329732 "chr13:20796912:T>C" "GJB6" "NM_006783:p.Leu236Leu" "NM_006783:c.708A>G" "EXON3" "Unknown significance" "rs776569668" "This variant is a VUS because it does not have enough information." 0 10394 0 0 11576 0 0 8654 0 0 6614 0 1 66722 0.0000149876 0 908 0 0 16510 0 1 121378 0.00000823873
329733 "chr13:20796919:T>C" "GJB6" "NM_006783:p.His234Arg" "NM_006783:c.701A>G" "EXON3" "Likely benign" "rs758984964" "Pathogenicity is based on prediction data only. 2 out of 6 predictions were pathogenic." 1.061 "C" "0.287" "T" "0.001" "B" 0.114741 "N" 0.80075 "N" "4.36" "C" 0 10394 0 0 11574 0 0 8654 0 0 6614 0 1 66722 0.0000149876 0 908 0 0 16510 0 1 121376 0.00000823886
329734 "chr13:20796922:T>C" "GJB6" "NM_006783:p.Asn233Ser" "NM_006783:c.698A>G" "EXON3" "Likely benign" "rs764901929" "Pathogenicity is based on prediction data only. 2 out of 6 predictions were pathogenic." 0.148 "N" "0.653" "T" "0.002" "B" 0.041969 "N" 0.661348 "D" "1.83" "C" 0 10394 0 0 11574 0 0 8654 0 0 6614 0 1 66722 0.0000149876 0 908 0 0 16508 0 1 121374 0.000008239
329735 "chr13:20796925:G>A" "GJB6" "NM_006783:p.Pro232Leu" "NM_006783:c.695C>T" "EXON3" "Unknown significance" "rs752253778" "This variant is a VUS because it does not have enough information." 1.048 "C" "0.128" "T" "0.002" "B" 0.070547 "N" 0.9984 "D" "5.61" "C" 0 10392 0 0 11574 0 2 8654 0.000231107 0 6614 0 0 66720 0 0 908 0 0 16508 0 2 121370 0.0000164785
329736 "chr13:20796926:G>A" "GJB6" "NM_006783:p.Pro232Ser" "NM_006783:c.694C>T" "EXON3" "Likely benign" "rs758167011" "Pathogenicity is based on prediction data only. 2 out of 6 predictions were pathogenic." 1.048 "C" "0.297" "T" "0.022" "B" 0.070547 "N" 0.713479 "N" "4.76" "C" 0 10392 0 0 11570 0 2 8654 0.000231107 0 6614 0 0 66718 0 0 908 0 0 16510 0 2 121366 0.0000164791
329737 "chr13:20796930:->T" "GJB6" "NM_006783:c.690_691insA" "EXON3" "Pathogenic" "24033266" "Pathogenicity is based on ClinVar submissions. All submitters agree with this pathogenicity."
329738 "chr13:20796931:->T" "GJB6" "NM_006783:c.689_690insA" "EXON3" "Pathogenic" "Hearlng loss" "23757202|25214170|25621899" "rs398124237" "Pathogenicity is based on ClinVar submissions and the literature provided in PubMed." 0 10392 0 1 11572 0.0000864155 0 8654 0 0 6614 0 35 66712 0.000524643 0 908 0 0 16508 0 36 121360 0.000296638
329739 "chr13:20796933:T>G" "GJB6" "NM_006783:p.Lys229Asn" "NM_006783:c.687A>C" "EXON3" "Likely benign" "rs372607790" "Pathogenicity is based on prediction data only. 0 out of 6 predictions were pathogenic." -0.259 "N" "0.265" "T" "0.0" "B" 0.44182 "N" 1 "N" "-4.39" "N" 1 8600 0.000116279 0 4406 0 1 13006 0.0000768876 0 10392 0 0 11572 0 0 8654 0 0 6614 0 1 66718 0.0000149885 0 908 0 0 16510 0 1 121368 0.0000082394
329740 "chr13:20796934:T>G" "GJB6" "NM_006783:p.Lys229Thr" "NM_006783:c.686A>C" "EXON3" "Likely benign" "rs577832858" "Pathogenicity is based on prediction data only. 0 out of 6 predictions were pathogenic." -0.37 "N" "0.397" "T" "0.004" "B" 0.44182 "N" 1 "N" "-0.137" "N" 0 1322 0 0 1006 0 0 694 0 0 1008 0 1 978 0.001 1 5008 0.000199681 0 10392 0 0 11572 0 0 8654 0 0 6614 0 0 66714 0 0 908 0 1 16510 0.0000605694 1 121364 0.00000823968
329741 "chr13:20796939:C>G" "GJB6" "NM_006783:p.Thr227Thr" "NM_006783:c.681G>C" "EXON3" "Unknown significance" "rs757602049" "This variant is a VUS because it does not have enough information." 0 10390 0 0 11572 0 0 8654 0 0 6614 0 0 66708 0 0 908 0 1 16510 0.0000605694 1 121356 0.00000824022
329742 "chr13:20796939:C>T" "GJB6" "NM_006783:p.Thr227Thr" "NM_006783:c.681G>A" "EXON3" "Unknown significance" "rs757602049" "This variant is a VUS because it does not have enough information." 0 10390 0 0 11572 0 1 8654 0.000115554 0 6614 0 0 66708 0 0 908 0 0 16510 0 1 121356 0.00000824022
329743 "chr13:20796940:G>A" "GJB6" "NM_006783:p.Thr227Met" "NM_006783:c.680C>T" "EXON3" "Unknown significance" "rs199790650" "This variant is a VUS because it does not have enough information." 1.048 "C" "0.136" "T" "0.454" "P" 0.982143 "N" 1 "N" "0.188" "C" 2 8600 0.000232558 0 4406 0 2 13006 0.000153775 1 10384 0.000096302 0 11572 0 0 8654 0 0 6612 0 14 66712 0.000209857 0 908 0 0 16510 0 15 121352 0.000123607
329744 "chr13:20796948:T>C" "GJB6" "NM_006783:p.Arg224Arg" "NM_006783:c.672A>G" "EXON3" "Unknown significance" "rs756597598" "This variant is a VUS because it does not have enough information." 0 400 0 0 320 0 0 320 0 0 400 0 1 360 0.00277778 0 200 0 1 2000 0.0005 0 10390 0 2 11572 0.000172831 0 8652 0 0 6614 0 1 66712 0.0000149898 0 908 0 0 16510 0 3 121358 0.0000247202
329745 "chr13:20796954:T>C" "GJB6" "NM_006783:p.Ser222Ser" "NM_006783:c.666A>G" "EXON3" "Unknown significance" "rs138571061" "This variant is a VUS because it does not have enough information." 1 8600 0.000116279 0 4406 0 1 13006 0.0000768876 0 10394 0 0 11574 0 0 8654 0 0 6614 0 1 66714 0.0000149894 0 908 0 0 16510 0 1 121368 0.0000082394
329746 "chr13:20796958:C>A" "GJB6" "NM_006783:p.Arg221Ile" "NM_006783:c.662G>T" "EXON3" "Likely benign" "rs749332449" "Pathogenicity is based on prediction data only. 1 out of 6 predictions were pathogenic." 0.935 "N" "0.247" "T" "0.003" "B" 0.027485 "N" 0.983764 "N" "3.88" "C" 1 10392 0.0000962279 0 11574 0 0 8654 0 0 6614 0 0 66714 0 0 908 0 0 16510 0 1 121366 0.00000823954
329747 "chr13:20796966:AC>-" "GJB6" "NM_006783:c.654_657delGT" "EXON3" "Unknown significance" "rs772157377" "This variant is a VUS because it does not have enough information." 0 10392 0 0 11574 0 0 8654 0 0 6614 0 0 66714 0 0 908 0 2 16510 0.000121139 2 121366 0.0000164791
329748 "chr13:20796968:A>T" "GJB6" "NM_006783:p.Cys218Ser" "NM_006783:c.652T>A" "EXON3" "Unknown significance" "rs768912194" "This variant is a VUS because it does not have enough information." 1.199 "C" "0.024" "D" "0.017" "B" 0.00076 "D" 0.565314 "D" "5.61" "C" 0 10392 0 0 11572 0 0 8654 0 0 6614 0 0 66714 0 0 908 0 1 16508 0.0000605767 1 121362 0.00000823981
329749 "chr13:20796970:A>T" "GJB6" "NM_006783:p.Val217Glu" "NM_006783:c.650T>A" "EXON3" "Likely benign" "rs774580284" "Pathogenicity is based on prediction data only. 2 out of 6 predictions were pathogenic." 1.199 "C" "0.257" "T" "0.037" "B" 0.992373 "N" 1 "N" "5.61" "C" 0 10396 0 0 11572 0 0 8654 0 0 6614 0 4 66714 0.0000599574 0 908 0 0 16510 0 4 121368 0.0000329576
329750 "chr13:20796984:G>A" "GJB6" "NM_006783:p.Tyr212Tyr" "NM_006783:c.636C>T" "EXON3" "Unknown significance" "rs746807651" "This variant is a VUS because it does not have enough information." 0 10396 0 0 11572 0 1 8654 0.000115554 0 6614 0 0 66714 0 0 908 0 0 16510 0 1 121368 0.0000082394
329751 "chr13:20796989:A>C" "GJB6" "NM_006783:p.Cys211Gly" "NM_006783:c.631T>G" "EXON3" "Unknown significance" "rs141752846" "This variant is a VUS because it does not have enough information." 1.199 "C" "0.329" "T" "0.0" "B" 0.000001 "D" 0.98017 "D" "5.61" "C" 0 8600 0 1 4406 0.000226963 1 13006 0.0000768876 2 10398 0.000192345 4 11572 0.000345662 0 8654 0 0 6614 0 0 66718 0 0 908 0 0 16512 0 6 121376 0.0000494332
329752 "chr13:20797001:C>T" "GJB6" "NM_006783:p.Val207Met" "NM_006783:c.619G>A" "EXON3" "Unknown significance" "24033266" "rs146231737" "Pathogenicity is based on ClinVar submissions. All submitters agree with this pathogenicity." 0.935 "N" "0.095" "T" "0.66" "P" 0.000022 "D" 0.999883 "D" "5.61" "C" 0 8600 0 1 4406 0.000226963 1 13006 0.0000768876 1 10398 0.0000961723 2 11574 0.000172801 0 8654 0 0 6614 0 4 66720 0.000059952 0 908 0 0 16512 0 7 121380 0.0000576701
329753 "chr13:20797002:G>A" "GJB6" "NM_006783:p.Asn206Asn" "NM_006783:c.618C>T" "EXON3" "Unknown significance" "rs547428597" "This variant is a VUS because it does not have enough information." 0 10398 0 0 11574 0 0 8654 0 0 6614 0 4 66714 0.0000599574 0 908 0 0 16512 0 4 121374 0.000032956
329754 "chr13:20797003:T>G" "GJB6" "NM_006783:p.Asn206Thr" "NM_006783:c.617A>C" "EXON3" "Unknown significance" "rs765237598" "This variant is a VUS because it does not have enough information." 1.061 "C" "0.127" "T" "1.0" "D" 0.000001 "D" 0.999659 "D" "5.61" "C" 0 10398 0 0 11572 0 0 8654 0 0 6614 0 4 66720 0.000059952 0 908 0 0 16512 0 4 121378 0.0000329549
329755 "chr13:20797013:T>C" "GJB6" "NM_006783:p.Met203Val" "NM_006783:c.607A>G" "EXON3" "Benign*" "rs200674715" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005. Additionally this variant has been reported pathogenic in the literature provided in PubMed." 0.148 "N" "0.09" "T" "0.016" "B" 0.000007 "D" 0.820282 "D" "1.93" "C" 4 8600 0.000465116 0 4406 0 4 13006 0.00030755 0 10396 0 1 11574 0.0000864006 0 8654 0 37 6614 0.00559419 35 66722 0.000524565 1 908 0.00110132 0 16510 0 74 121378 0.000609666
329756 "chr13:20797025:A>T" "GJB6" "NM_006783:p.Ser199Thr" "NM_006783:c.595T>A" "EXON3" "Benign" "rs111033338" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 1.199 "C" "0.02" "D" "1.0" "D" 0.000005 "D" 0.999979 "D" "5.61" "C" 55 8600 0.00639535 1 4406 0.000226963 56 13006 0.00430571 0 400 0 2 320 0.00625 1 320 0.003125 0 400 0 0 360 0 0 200 0 3 2000 0.0015 0 1322 0 8 1006 0.008 1 694 0.0014 0 1008 0 0 978 0 9 5008 0.00179712 11 10398 0.0010579 14 11570 0.00121003 0 8654 0 33 6612 0.00499093 505 66726 0.00756826 2 908 0.00220264 1 16512 0.000060562 566 121380 0.00466304
329757 "chr13:20797026:C>T" "GJB6" "NM_006783:p.Ala198Ala" "NM_006783:c.594G>A" "EXON3" "Unknown significance" "rs763870146" "This variant is a VUS because it does not have enough information." 0 10396 0 0 11570 0 0 8652 0 0 6614 0 3 66718 0.0000449654 0 908 0 0 16510 0 3 121368 0.0000247182
329758 "chr13:20797027:G>A" "GJB6" "NM_006783:p.Ala198Val" "NM_006783:c.593C>T" "EXON3" "Unknown significance" "rs200881320" "This variant is a VUS because it does not have enough information." 1.048 "C" "0.714" "T" "0.016" "B" 0.000618 "D" 0.793222 "D" "5.45" "C" 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 0 978 0 1 5008 0.000199681 0 10396 0 0 11570 0 1 8650 0.000115607 0 6614 0 1 66726 0.0000149867 0 908 0 1 16510 0.0000605694 3 121374 0.000024717
329759 "chr13:20797027:G>T" "GJB6" "NM_006783:p.Ala198Glu" "NM_006783:c.593C>A" "EXON3" "Unknown significance" "rs200881320" "This variant is a VUS because it does not have enough information." 1.048 "C" "0.003" "D" "0.942" "P" 0.000618 "D" 0.879513 "D" "5.45" "C" 0 10396 0 2 11570 0.000172861 0 8650 0 0 6614 0 0 66726 0 0 908 0 0 16510 0 2 121374 0.000016478
329760 "chr13:20797035:C>A" "GJB6" "NM_006783:p.Met195Ile" "NM_006783:c.585G>T" "EXON3" "Unknown significance" "rs767980664" "This variant is a VUS because it does not have enough information." 0.935 "N" "0.002" "D" "1.0" "D" 0 "D" 1 "D" "5.45" "C" 0 10400 0 2 11572 0.000172831 0 8654 0 0 6614 0 0 66724 0 0 908 0 0 16512 0 2 121384 0.0000164766
329761 "chr13:20797036:A>G" "GJB6" "NM_006783:p.Met195Thr" "NM_006783:c.584T>C" "EXON3" "Unknown significance" "rs777143831" "This variant is a VUS because it does not have enough information." 1.199 "C" "0.0" "D" "1.0" "D" 0 "D" 1 "D" "5.45" "C"
329762 "chr13:20797037:T>C" "GJB6" "NM_006783:p.Met195Val" "NM_006783:c.583A>G" "EXON3" "Unknown significance" "rs750748318" "This variant is a VUS because it does not have enough information." 1.061 "C" "0.02" "D" "1.0" "D" 0 "D" 0.999998 "D" "5.45" "C" 0 10400 0 1 11570 0.0000864304 0 8654 0 0 6612 0 0 66726 0 0 908 0 0 16512 0 1 121382 0.00000823845
329763 "chr13:20797043:T>C" "GJB6" "NM_006783:p.Ile193Val" "NM_006783:c.577A>G" "EXON3" "Likely benign" "rs756650660" "Pathogenicity is based on prediction data only. 1 out of 6 predictions were pathogenic." 0.144 "N" "0.495" "T" "0.025" "B" 0.13323 "N" 0.588717 "D" "-1.47" "N" 0 10400 0 0 11572 0 0 8654 0 0 6614 0 1 66730 0.0000149858 0 908 0 0 16512 0 1 121390 0.00000823791
329764 "chr13:20797051:A>G" "GJB6" "NM_006783:p.Val190Ala" "NM_006783:c.569T>C" "EXON3" "Pathogenic" "Hearlng loss" "25214170" "rs780513857" "Pathogenicity is based on the literature provided in PubMed." 1.199 "C" "0.0" "D" "0.988" "D" 0.000022 "D" 0.999991 "D" "5.45" "C" 0 10400 0 0 11568 0 0 8654 0 0 6614 0 1 66728 0.0000149862 0 908 0 0 16512 0 1 121384 0.00000823832
329765 "chr13:20797052:C>T" "GJB6" "NM_006783:p.Val190Met" "NM_006783:c.568G>A" "EXON3" "Unknown significance" "rs144174802" "This variant is a VUS because it does not have enough information." 0.935 "N" "0.015" "D" "0.998" "D" 0.000022 "D" 0.999951 "D" "4.61" "C" 1 8600 0.000116279 0 4406 0 1 13006 0.0000768876 2 10400 0.000192308 0 11568 0 0 8654 0 0 6614 0 5 66726 0.0000749333 0 908 0 2 16510 0.000121139 9 121380 0.0000741473
329766 "chr13:20797052:C>A" "GJB6" "NM_006783:p.Val190Leu" "NM_006783:c.568G>T" "EXON3" "Unknown significance" "rs144174802" "This variant is a VUS because it does not have enough information." 0.935 "N" "0.026" "D" "0.932" "P" 0.000022 "D" 0.999936 "D" "4.61" "C" 0 10400 0 0 11568 0 0 8654 0 0 6614 0 6 66726 0.00008992 0 908 0 0 16510 0 6 121380 0.0000494315
329767 "chr13:20797053:G>A" "GJB6" "NM_006783:p.Thr189Thr" "NM_006783:c.567C>T" "EXON3" "Unknown significance" "rs779020990" "This variant is a VUS because it does not have enough information." 1 10398 0.0000961723 0 11572 0 0 8652 0 0 6612 0 1 66718 0.0000149885 0 908 0 0 16510 0 2 121370 0.0000164785
329768 "chr13:20797056:C>T" "GJB6" "NM_006783:p.Lys188Lys" "NM_006783:c.564G>A" "EXON3" "Unknown significance" "rs748464515" "This variant is a VUS because it does not have enough information." 0 10402 0 0 11572 0 0 8650 0 0 6612 0 1 66726 0.0000149867 0 908 0 0 16512 0 1 121382 0.00000823845
329769 "chr13:20797064:T>C" "GJB6" "NM_006783:p.Thr186Ala" "NM_006783:c.556A>G" "EXON3" "Pathogenic" "Deafness" "23967202" "rs772181578" "Pathogenicity is based on the literature provided in PubMed." 1.061 "C" "0.006" "D" "0.999" "D" 0.000003 "D" 0.999999 "D" "5.45" "C" 0 10402 0 0 11572 0 0 8652 0 0 6614 0 1 66738 0.000014984 0 908 0 0 16512 0 1 121398 0.00000823737
329770 "chr13:20797067:G>T" "GJB6" "NM_006783:p.Pro185Thr" "NM_006783:c.553C>A" "EXON3" "Unknown significance" "rs765775497" "This variant is a VUS because it does not have enough information." 1.048 "C" "0.017" "D" "1.0" "D" 0.000004 "D" 1 "D" "5.45" "C" 0 10398 0 0 11570 0 0 8652 0 0 6614 0 1 66734 0.0000149849 0 908 0 0 16512 0 1 121388 0.00000823805
329771 "chr13:20797085:C>G" "GJB6" "NM_006783:p.Asp179His" "NM_006783:c.535G>C" "EXON3" "Unknown significance" "rs752585451" "This variant is a VUS because it does not have enough information." 0.935 "N" "0.0" "D" "1.0" "D" 0.000002 "D" 1 "D" "5.13" "C"
329772 "chr13:20797091:G>C" "GJB6" "NM_006783:p.Leu177Val" "NM_006783:c.529C>G" "EXON3" "Likely benign" "rs745637886" "Pathogenicity is based on prediction data only. 1 out of 6 predictions were pathogenic." 0.1 "N" "0.429" "T" "0.0" "B" 0.267022 "N" 1 "N" "0.963" "C" 0 10402 0 4 11572 0.000345662 0 8654 0 0 6614 0 0 66738 0 0 908 0 0 16512 0 4 121400 0.0000329489
329773 "chr13:20797101:->G" "GJB6" "NM_006783:c.519_520insC" "EXON3" "Unknown significance" "rs34298814" "This variant is a VUS because it does not have enough information."
329774 "chr13:20797102:G>A" "GJB6" "NM_006783:p.Pro173Leu" "NM_006783:c.518C>T" "EXON3" "Unknown significance" "rs200480676" "This variant is a VUS because it does not have enough information." 1.048 "C" "0.0" "D" "1.0" "D" 0.000029 "D" 1 "D" "5.13" "C" 0 10402 0 0 11572 0 0 8654 0 0 6614 0 6 66734 0.0000899092 0 908 0 0 16512 0 6 121396 0.000049425
329775 "chr13:20797103:G>A" "GJB6" "NM_006783:p.Pro173Ser" "NM_006783:c.517C>T" "EXON3" "Unknown significance" "rs775528528" "This variant is a VUS because it does not have enough information." 1.048 "C" "0.0" "D" "1.0" "D" 0.000029 "D" 1 "D" "5.13" "C" 0 10402 0 0 11574 0 0 8654 0 0 6614 0 1 66734 0.0000149849 0 908 0 0 16512 0 1 121398 0.00000823737
329776 "chr13:20797104:G>T" "GJB6" "NM_006783:p.Asp172Glu" "NM_006783:c.516C>A" "EXON3" "Likely benign" "rs150583213" "Pathogenicity is based on prediction data only. 0 out of 6 predictions were pathogenic." -0.272 "N" "1.0" "T" "0.002" "B" 0.850527 "N" 0.999981 "N" "-9.56" "N" 0 8600 0 1 4406 0.000226963 1 13006 0.0000768876 2 10402 0.000192271 0 11574 0 0 8654 0 0 6614 0 0 66738 0 0 908 0 0 16512 0 2 121402 0.0000164742
329777 "chr13:20797106:C>T" "GJB6" "NM_006783:p.Asp172Asn" "NM_006783:c.514G>A" "EXON3" "Likely benign" "rs377061702" "Pathogenicity is based on prediction data only. 1 out of 6 predictions were pathogenic." 0.935 "N" "0.571" "T" "0.0" "B" 0.850527 "N" 1 "N" "2.42" "C" 1 8600 0.000116279 0 4406 0 1 13006 0.0000768876 0 10402 0 0 11574 0 0 8654 0 0 6614 0 1 66736 0.0000149844 0 908 0 0 16512 0 1 121400 0.00000823723
329778 "chr13:20797107:A>T" "GJB6" "NM_006783:p.Ile171Ile" "NM_006783:c.513T>A" "EXON3" "Unknown significance" "rs773719693" "This variant is a VUS because it does not have enough information." 0 10402 0 0 11574 0 0 8654 0 0 6614 0 0 66736 0 0 908 0 1 16512 0.000060562 1 121400 0.00000823723
329779 "chr13:20797116:T>G" "GJB6" "NM_006783:p.Lys168Asn" "NM_006783:c.504A>C" "EXON3" "Unknown significance" "rs761590601" "This variant is a VUS because it does not have enough information." -0.227 "N" "0.002" "D" "1.0" "D" 0.000098 "D" 0.99006 "D" "-5.1" "N" 0 10404 0 0 11574 0 0 8654 0 0 6614 0 0 66738 0 0 908 0 1 16512 0.000060562 1 121404 0.00000823696
329780 "chr13:20797122:C>T" "GJB6" "NM_006783:p.Val166Val" "NM_006783:c.498G>A" "EXON3" "Unknown significance" "rs767044398" "Pathogenicity is based on ClinVar submissions. All submitters agree with this pathogenicity." 0 10404 0 0 11574 0 0 8654 0 0 6614 0 2 66736 0.0000299688 0 908 0 0 16512 0 2 121402 0.0000164742
329781 "chr13:20797126:C>T" "GJB6" "NM_006783:p.Trp165Stop" "NM_006783:c.494G>A" "EXON3" "Unknown significance" "rs139711065" "This variant is a VUS because it does not have enough information." 0.935 "N" 0.003875 "N" 1 "D" "5.13" "C" 1 8600 0.000116279 0 4406 0 1 13006 0.0000768876
329782 "chr13:20797130:G>A" "GJB6" "NM_006783:p.Pro164Ser" "NM_006783:c.490C>T" "EXON3" "Unknown significance" "rs751130707" "This variant is a VUS because it does not have enough information." 1.048 "C" "0.021" "D" "0.589" "P" 0.000351 "D" 0.999593 "D" "5.13" "C" 0 10404 0 0 11574 0 0 8654 0 0 6614 0 1 66736 0.0000149844 0 908 0 0 16512 0 1 121402 0.0000082371
329783 "chr13:20797131:C>T" "GJB6" "NM_006783:p.Leu163Leu" "NM_006783:c.489G>A" "EXON3" "Benign" "rs35002004" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 43 8600 0.005 2 4406 0.000453926 45 13006 0.00345994 3 400 0.0075 2 320 0.00625 0 320 0 0 400 0 0 360 0 1 200 0.005 6 2000 0.003 0 1322 0 6 1006 0.006 1 694 0.0014 0 1008 0 0 978 0 7 5008 0.00139776 7 10404 0.000672818 39 11574 0.00336962 0 8654 0 11 6614 0.00166314 345 66734 0.00516978 3 908 0.00330396 17 16512 0.00102955 422 121400 0.00347611
329784 "chr13:20797135:->T" "GJB6" "NM_006783:c.485_486insA" "EXON3" "Unknown significance" "rs775669210" "This variant is a VUS because it does not have enough information." 0 10404 0 0 11574 0 0 8654 0 0 6614 0 1 66736 0.0000149844 0 908 0 0 16512 0 1 121402 0.0000082371
329785 "chr13:20797140:C>T" "GJB6" "NM_006783:p.Gly160Gly" "NM_006783:c.480G>A" "EXON3" "Unknown significance" "rs145762940" "This variant is a VUS because it does not have enough information." 0 8600 0 2 4406 0.000453926 2 13006 0.000153775 2 1322 0.0015 0 1006 0 0 694 0 0 1008 0 0 978 0 2 5008 0.000399361 9 10404 0.000865052 0 11574 0 0 8654 0 0 6614 0 0 66734 0 0 908 0 0 16512 0 9 121400 0.0000741351
329786 "chr13:20797141:C>G" "GJB6" "NM_006783:p.Gly160Ala" "NM_006783:c.479G>C" "EXON3" "Unknown significance" "rs754273614" "This variant is a VUS because it does not have enough information." 0.935 "N" "0.017" "D" "0.991" "D" 0.000003 "D" 1 "D" "5.13" "C" 0 10404 0 0 11572 0 0 8654 0 0 6614 0 1 66734 0.0000149849 0 908 0 0 16510 0 1 121396 0.0000082375
329787 "chr13:20797144:T>C" "GJB6" "NM_006783:p.Asn159Ser" "NM_006783:c.476A>G" "EXON3" "Benign" "rs35277762" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 0.135 "N" "0.293" "T" "0.009" "B" 0.006736 "N" 0.912525 "N" "3.95" "C" 2 8600 0.000232558 30 4406 0.0068089 32 13006 0.0024604 10 1322 0.0076 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 11 5008 0.00219649 74 10404 0.00711265 6 11574 0.000518403 0 8654 0 0 6614 0 3 66728 0.0000449586 1 908 0.00110132 0 16512 0 84 121394 0.000691962
329788 "chr13:20797145:TGTAAAGGAAG>-" "GJB6" "NM_006783:c.475_487delCTTCCTTTACA" "EXON3" "Unknown significance" "rs760853231" "This variant is a VUS because it does not have enough information." 0 10404 0 0 11574 0 0 8654 0 0 6614 0 1 66728 0.0000149862 0 908 0 0 16512 0 1 121394 0.00000823764
329789 "chr13:20797151:G>C" "GJB6" "NM_006783:p.Leu157Val" "NM_006783:c.469C>G" "EXON3" "Unknown significance" "rs755468835" "This variant is a VUS because it does not have enough information." 1.048 "C" "0.114" "T" "0.035" "B" 0.001603 "N" 0.877857 "D" "5.13" "C" 0 10404 0 0 11574 0 0 8654 0 0 6614 0 1 66732 0.0000149853 0 908 0 0 16512 0 1 121398 0.00000823737
329790 "chr13:20797157:A>G" "GJB6" "NM_006783:p.Tyr155His" "NM_006783:c.463T>C" "EXON3" "Pathogenic" "Hearing loss, non-syndromic" "22106692" "Pathogenicity is based on the literature provided in PubMed." 1.199 "C" "0.408" "T" "1.0" "D" 0.000017 "D" 0.999759 "D" "5.13" "C"
329791 "chr13:20797162:A>G" "GJB6" "NM_006783:p.Val153Ala" "NM_006783:c.458T>C" "EXON3" "Likely benign" "rs779119807" "Pathogenicity is based on prediction data only. 2 out of 6 predictions were pathogenic." 1.199 "C" "0.212" "T" "0.004" "B" 0.009284 "N" 0.967656 "N" "5.28" "C" 0 10404 0 2 11574 0.000172801 0 8654 0 0 6614 0 1 66732 0.0000149853 0 908 0 0 16510 0 3 121396 0.0000247125
329792 "chr13:20797163:C>T" "GJB6" "NM_006783:p.Val153Met" "NM_006783:c.457G>A" "EXON3" "Unknown significance" "rs752690015" "This variant is a VUS because it does not have enough information." 0.935 "N" "0.028" "D" "0.975" "D" 0.009284 "N" 0.953808 "N" "5.28" "C" 0 10404 0 0 11574 0 0 8654 0 0 6614 0 2 66732 0.0000299706 0 908 0 0 16510 0 2 121396 0.000016475
329793 "chr13:20797164:A>C" "GJB6" "NM_006783:p.Tyr152Stop" "NM_006783:c.456T>G" "EXON3" "Unknown significance" "rs758698687" "This variant is a VUS because it does not have enough information." -0.262 "N" 0.000017 "D" 1 "D" "-4.82" "N" 0 10404 0 0 11574 0 0 8654 0 0 6614 0 1 66734 0.0000149849 0 908 0 0 16510 0 1 121398 0.00000823737
329794 "chr13:20797169:T>C" "GJB6" "NM_006783:p.Met151Val" "NM_006783:c.451A>G" "EXON3" "Unknown significance" "rs777810168" "This variant is a VUS because it does not have enough information." 1.061 "C" "0.122" "T" "0.944" "P" 0 "D" 0.999092 "D" "5.28" "C" 0 10404 0 0 11574 0 0 8654 0 0 6614 0 1 66726 0.0000149867 0 908 0 0 16510 0 1 121390 0.00000823791
329795 "chr13:20797174:G>A" "GJB6" "NM_006783:p.Ala149Val" "NM_006783:c.446C>T" "EXON3" "Likely benign" "rs576686538" "Pathogenicity is based on prediction data only. 2 out of 6 predictions were pathogenic." 1.048 "C" "0.777" "T" "0.001" "B" 0.875142 "N" 1 "N" "3.5" "C" 0 1322 0 0 1006 0 0 694 0 0 1008 0 1 978 0.001 1 5008 0.000199681 0 10404 0 0 11574 0 0 8654 0 0 6614 0 0 66728 0 0 908 0 1 16510 0.0000605694 1 121392 0.00000823778
329796 "chr13:20797177:->CGTCAAATTCATAGAGACGGAAGGTGGAATGGTGGTTGTCAGGG" "GJB6" "NM_006783:c.443_444insCCCTGACAACCACCATTCCACCTTCCGTCTCTATGAATTTGACG" "EXON3" "Unknown significance" "rs768935828" "This variant is a VUS because it does not have enough information."
329797 "chr13:20797177:G>A" "GJB6" "NM_006783:p.Ala148Val" "NM_006783:c.443C>T" "EXON3" "Unknown significance" "rs769645915" "This variant is a VUS because it does not have enough information." 1.048 "C" "1.0" "T" "0.56" "P" 0.000005 "D" 0.998357 "D" "5.28" "C" 0 10404 0 1 11572 0.0000864155 0 8654 0 0 6614 0 1 66700 0.0000149925 0 908 0 0 16510 0 2 121362 0.0000164796
329798 "chr13:20797179:T>G" "GJB6" "NM_006783:p.Glu147Asp" "NM_006783:c.441A>C" "EXON3" "Pathogenic" "Hearing loss, non-syndromic" "22106692" "Pathogenicity is based on the literature provided in PubMed." -0.899 "N" "0.409" "T" "1.0" "D" 0.000003 "D" 0.996371 "D" "-2.71" "N"
329799 "chr13:20797192:C>T" "GJB6" "NM_006783:p.Arg143Gln" "NM_006783:c.428G>A" "EXON3" "Unknown significance" "rs201783640" "This variant is a VUS because it does not have enough information." 0.935 "N" "0.001" "D" "1.0" "D" 0.000005 "D" 0.999675 "D" "5.28" "C" 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 0 978 0 1 5008 0.000199681 0 10400 0 0 11572 0 1 8654 0.000115554 0 6614 0 0 66694 0 0 906 0 0 16510 0 1 121350 0.00000824063
329800 "chr13:20797193:G>A" "GJB6" "NM_006783:p.Arg143Stop" "NM_006783:c.427C>T" "EXON3" "Unknown significance" "rs749296000" "This variant is a VUS because it does not have enough information." 1.048 "C" 0.000005 "D" 1 "D" "4.33" "C" 0 10402 0 0 11574 0 0 8654 0 0 6614 0 0 66720 0 0 906 0 1 16510 0.0000605694 1 121380 0.00000823859
329801 "chr13:20797215:C>T" "GJB6" "NM_006783:p.Thr135Thr" "NM_006783:c.405G>A" "EXON3" "Unknown significance" "rs145438428" "This variant is a VUS because it does not have enough information." 3 8600 0.000348837 5 4406 0.00113482 8 13006 0.000615101 2 1322 0.0015 0 1006 0 0 694 0 0 1008 0 0 978 0 2 5008 0.000399361 17 10400 0.00163462 0 11574 0 0 8654 0 0 6614 0 11 66702 0.000164913 0 906 0 0 16510 0 28 121360 0.000230719
329802 "chr13:20797216:G>T" "GJB6" "NM_006783:p.Thr135Lys" "NM_006783:c.404C>A" "EXON3" "Pathogenic" "Deafness" "17438853" "Pathogenicity is based on the literature provided in PubMed." 1.048 "C" "0.0" "D" "1.0" "D" 0.000003 "D" 0.999999 "D" "5.28" "C"
329803 "chr13:20797217:T>C" "GJB6" "NM_006783:p.Thr135Ala" "NM_006783:c.403A>G" "EXON3" "Unknown significance" "rs773950908" "This variant is a VUS because it does not have enough information." 1.061 "C" "0.014" "D" "0.245" "B" 0.000003 "D" 0.999997 "D" "5.28" "C" 2 10400 0.000192308 0 11574 0 0 8654 0 0 6614 0 0 66702 0 0 906 0 0 16510 0 2 121360 0.0000164799
329804 "chr13:20797222:C>A" "GJB6" "NM_006783:p.Trp133Leu" "NM_006783:c.398G>T" "EXON3" "Unknown significance" "rs761202742" "This variant is a VUS because it does not have enough information." 0.935 "N" "0.238" "T" "1.0" "D" 0.000009 "D" 1 "D" "5.28" "C"
329805 "chr13:20797224:C>T" "GJB6" "NM_006783:p.Leu132Leu" "NM_006783:c.396G>A" "EXON3" "Unknown significance" "rs189971962" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 3 1008 0.003 0 978 0 3 5008 0.000599042 0 10400 0 0 11576 0 18 8654 0.00207996 0 6614 0 0 66704 0 0 906 0 1 16510 0.0000605694 19 121364 0.000156554
329806 "chr13:20797227:C>T" "GJB6" "NM_006783:p.Ser131Ser" "NM_006783:c.393G>A" "EXON3" "Unknown significance" "rs200353369" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 1 978 0.001 2 5008 0.000399361 0 10400 0 0 11576 0 2 8654 0.000231107 0 6614 0 4 66704 0.0000599664 0 906 0 3 16510 0.000181708 9 121364 0.0000741571
329807 "chr13:20797230:C>A" "GJB6" "NM_006783:p.Gly130Gly" "NM_006783:c.390G>T" "EXON3" "Unknown significance" "rs761027934" "This variant is a VUS because it does not have enough information." 0 10400 0 0 11576 0 0 8654 0 0 6614 0 2 66702 0.0000299841 0 906 0 0 16510 0 2 121362 0.0000164796
329808 "chr13:20797238:T>A" "GJB6" "NM_006783:p.Ile128Leu" "NM_006783:c.382A>T" "EXON3" "Unknown significance" "rs766791253" "This variant is a VUS because it does not have enough information." 1.061 "C" "0.343" "T" "0.924" "P" 0.000002 "D" 0.999993 "D" "5.28" "C" 0 10400 0 1 11576 0.0000863856 0 8654 0 0 6614 0 0 66702 0 0 906 0 0 16510 0 1 121362 0.00000823981
329809 "chr13:20797240:C>T" "GJB6" "NM_006783:p.Arg127Gln" "NM_006783:c.380G>A" "EXON3" "Likely benign" "rs754202125" "Pathogenicity is based on prediction data only. 2 out of 6 predictions were pathogenic." 0.935 "N" "0.053" "T" "0.098" "B" 0.00002 "D" 0.999057 "N" "4.44" "C" 1 10398 0.0000961723 0 11576 0 0 8652 0 0 6614 0 7 66702 0.000104944 0 906 0 0 16510 0 8 121358 0.0000659207
329810 "chr13:20797249:T>C" "GJB6" "NM_006783:p.Gln124Arg" "NM_006783:c.371A>G" "EXON3" "Unknown significance" "rs760079142" "This variant is a VUS because it does not have enough information." 1.061 "C" "0.211" "T" "0.002" "B" 0.000359 "D" 0.828784 "D" "5.28" "C" 0 10398 0 1 11572 0.0000864155 0 8654 0 0 6614 0 0 66696 0 0 906 0 0 16510 0 1 121350 0.00000824063
329811 "chr13:20797257:A>-" "GJB6" "NM_006783:c.363delT" "EXON3" "Pathogenic" "Hearing loss, non-syndromic" "22106692" "Pathogenicity is based on the literature provided in PubMed."
329812 "chr13:20797261:T>C" "GJB6" "NM_006783:p.Asp120Gly" "NM_006783:c.359A>G" "EXON3" "Unknown significance" "rs765642698" "This variant is a VUS because it does not have enough information." 1.061 "C" "0.392" "T" "0.003" "B" 0.000002 "D" 0.514747 "N" "5.28" "C" 0 400 0 0 320 0 0 320 0 0 400 0 1 360 0.00277778 0 200 0 1 2000 0.0005 0 10396 0 1 11572 0.0000864155 0 8654 0 0 6614 0 0 66688 0 0 906 0 0 16510 0 1 121340 0.00000824131
329813 "chr13:20797262:C>T" "GJB6" "NM_006783:p.Asp120Asn" "NM_006783:c.358G>A" "EXON3" "Benign" "rs193292569" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 0.935 "N" "0.905" "T" "0.0" "B" 0.000002 "D" 0.728245 "N" "5.28" "C" 1 8600 0.000116279 0 4406 0 1 13006 0.0000768876 0 1322 0 5 1006 0.005 0 694 0 0 1008 0 0 978 0 5 5008 0.000998403 0 10394 0 0 11572 0 0 8654 0 105 6614 0.0158754 94 66690 0.00140951 5 906 0.00551876 0 16510 0 204 121340 0.00168123
329814 "chr13:20797267:A>T" "GJB6" "NM_006783:p.Ile118Lys" "NM_006783:c.353T>A" "EXON3" "Likely benign" "rs530181250" "Pathogenicity is based on prediction data only. 1 out of 6 predictions were pathogenic." 0.192 "N" "0.231" "T" "0.081" "B" 0.172021 "N" 1 "N" "4.08" "C" 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 0 978 0 1 5008 0.000199681 0 10396 0 0 11572 0 1 8654 0.000115554 0 6614 0 0 66678 0 0 904 0 0 16510 0 1 121328 0.00000824212
329815 "chr13:20797267:A>G" "GJB6" "NM_006783:p.Ile118Thr" "NM_006783:c.353T>C" "EXON3" "Likely benign" "rs530181250" "Pathogenicity is based on prediction data only. 1 out of 6 predictions were pathogenic." 0.192 "N" "0.337" "T" "0.002" "B" 0.172021 "N" 1 "N" "4.08" "C" 0 10396 0 0 11572 0 0 8654 0 0 6614 0 1 66678 0.0000149975 0 904 0 0 16510 0 1 121328 0.00000824212
329816 "chr13:20797269:G>A" "GJB6" "NM_006783:p.Asp117Asp" "NM_006783:c.351C>T" "EXON3" "Unknown significance" "rs751774202" "This variant is a VUS because it does not have enough information." 0 10394 0 0 11572 0 0 8654 0 0 6614 0 0 66680 0 0 904 0 3 16508 0.00018173 3 121326 0.0000247268
329817 "chr13:20797271:C>G" "GJB6" "NM_006783:p.Asp117His" "NM_006783:c.349G>C" "EXON3" "Likely benign" "rs757539461" "Pathogenicity is based on prediction data only. 2 out of 6 predictions were pathogenic." 0.935 "N" "0.166" "T" "0.058" "B" 0.021172 "N" 0.999968 "D" "5.28" "C" 0 10394 0 0 11570 0 0 8654 0 0 6614 0 1 66676 0.0000149979 0 904 0 0 16508 0 1 121320 0.00000824266
329818 "chr13:20797276:A>-" "GJB6" "NM_006783:c.344delT" "EXON3" "Unknown significance" "rs777064837" "This variant is a VUS because it does not have enough information."
329819 "chr13:20797276:A>C" "GJB6" "NM_006783:p.Phe115Cys" "NM_006783:c.344T>G" "EXON3" "Unknown significance" "rs185491286" "This variant is a VUS because it does not have enough information." 1.199 "C" "0.193" "T" "0.667" "P" 0.583478 "N" 0.988148 "N" "4.05" "C" 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 0 978 0 1 5008 0.000199681 0 10390 0 0 11568 0 1 8654 0.000115554 0 6614 0 0 66664 0 0 904 0 0 16504 0 1 121298 0.00000824416
329820 "chr13:20797277:A>C" "GJB6" "NM_006783:p.Phe115Val" "NM_006783:c.343T>G" "EXON3" "Likely benign" "rs749058656" "Pathogenicity is based on prediction data only. 2 out of 6 predictions were pathogenic." 1.199 "C" "0.6" "T" "0.037" "B" 0.583478 "N" 0.989087 "N" "5.28" "C" 0 10392 0 0 11568 0 0 8654 0 0 6614 0 1 66662 0.0000150011 0 904 0 0 16502 0 1 121296 0.00000824429
329821 "chr13:20797280:C>A" "GJB6" "NM_006783:p.Asp114Tyr" "NM_006783:c.340G>T" "EXON3" "Likely benign" "rs754990415" "Pathogenicity is based on prediction data only. 2 out of 6 predictions were pathogenic." 0.935 "N" "0.035" "D" "0.025" "B" 0.122938 "N" 0.999859 "N" "5.28" "C" 0 10392 0 0 11568 0 0 8654 0 0 6614 0 0 66664 0 0 904 0 1 16496 0.0000606208 1 121292 0.00000824457
329822 "chr13:20797281:A>T" "GJB6" "NM_006783:p.Asn113Lys" "NM_006783:c.339T>A" "EXON3" "Benign" "rs143766955" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." -0.125 "N" "0.767" "T" "0.001" "B" 0.317778 "N" 1 "N" "-6.54" "N" 1 8600 0.000116279 50 4406 0.0113482 51 13006 0.00392127 0 400 0 1 320 0.003125 0 320 0 0 400 0 0 360 0 0 200 0 1 2000 0.0005 5 1322 0.0038 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 6 5008 0.00119808 90 10392 0.00866051 9 11566 0.000778143 0 8654 0 0 6614 0 2 66664 0.0000300012 0 904 0 0 16498 0 101 121292 0.000832701
329823 "chr13:20797294:C>T" "GJB6" "NM_006783:p.Gly109Glu" "NM_006783:c.326G>A" "EXON3" "Unknown significance" "rs747722057" "Pathogenicity is based on ClinVar submissions. All submitters agree with this pathogenicity." 0.935 "N" "0.193" "T" "0.016" "B" 0.570066 "N" 0.998564 "D" "5.28" "C" 0 10392 0 0 11566 0 0 8654 0 0 6612 0 1 66612 0.0000150123 0 904 0 0 16466 0 1 121206 0.00000825042
329824 "chr13:20797297:C>T" "GJB6" "NM_006783:p.Arg108Gln" "NM_006783:c.323G>A" "EXON3" "Likely benign" "rs771412904" "Pathogenicity is based on prediction data only. 1 out of 6 predictions were pathogenic." 0.935 "N" "0.371" "T" "0.018" "B" 0.805045 "N" 1 "N" "3.22" "C" 0 10390 0 0 11566 0 0 8654 0 0 6612 0 4 66600 0.0000600601 0 904 0 0 16444 0 4 121170 0.0000330115
329825 "chr13:20797298:G>A" "GJB6" "NM_006783:p.Arg108Stop" "NM_006783:c.322C>T" "EXON3" "Unknown significance" "rs772862268" "This variant is a VUS because it does not have enough information." 1.048 "C" 0.805045 "N" 1 "D" "3.32" "C" 0 10386 0 0 11564 0 0 8652 0 0 6610 0 2 66584 0.0000300372 0 904 0 0 16414 0 2 121114 0.0000165134
329826 "chr13:20797300:C>T" "GJB6" "NM_006783:p.Arg107Lys" "NM_006783:c.320G>A" "EXON3" "Likely benign" "rs188399223" "Pathogenicity is based on prediction data only. 1 out of 6 predictions were pathogenic." -0.407 "N" "0.352" "T" "0.016" "B" 0.412439 "N" 1 "N" "1.52" "C" 0 1322 0 0 1006 0 0 694 0 4 1008 0.004 0 978 0 4 5008 0.000798722 0 10388 0 0 11566 0 2 8652 0.00023116 0 6612 0 0 66582 0 0 902 0 0 16416 0 2 121118 0.0000165128
329827 "chr13:20797305:C>A" "GJB6" "NM_006783:p.Lys105Asn" "NM_006783:c.315G>T" "EXON3" "Likely benign" "rs770543700" "Pathogenicity is based on prediction data only. 2 out of 6 predictions were pathogenic." -0.337 "N" "0.008" "D" "0.001" "B" 0.00689 "N" 0.998384 "N" "2.65" "C" 0 10388 0 0 11564 0 0 8652 0 0 6612 0 1 66564 0.0000150231 0 902 0 0 16384 0 1 121066 0.00000825996
329828 "chr13:20797308:G>-" "GJB6" "NM_006783:c.312delC" "EXON3" "Unknown significance" "rs762799704" "This variant is a VUS because it does not have enough information." 0 10388 0 0 11566 0 0 8652 0 0 6612 0 4 66554 0.0000601016 0 902 0 0 16364 0 4 121038 0.0000330475
329829 "chr13:20797308:G>A" "GJB6" "NM_006783:p.Arg104Arg" "NM_006783:c.312C>T" "EXON3" "Unknown significance" "rs777031500" "This variant is a VUS because it does not have enough information." 0 10386 0 0 11564 0 0 8652 0 0 6612 0 1 66550 0.0000150263 0 902 0 0 16358 0 1 121024 0.00000826282
329830 "chr13:20797309:C>T" "GJB6" "NM_006783:p.Arg104His" "NM_006783:c.311G>A" "EXON3" "Unknown significance" "rs549918398" "This variant is a VUS because it does not have enough information." 0.935 "N" "0.101" "T" "0.997" "D" 0.000741 "D" 0.999988 "N" "5.28" "C" 0 400 0 1 320 0.003125 0 320 0 0 400 0 0 360 0 0 200 0 1 2000 0.0005 0 1322 0 0 1006 0 0 694 0 0 1008 0 1 978 0.001 1 5008 0.000199681 0 10382 0 0 11560 0 0 8652 0 0 6610 0 1 66506 0.0000150362 1 900 0.00111111 32 16312 0.00196175 34 120922 0.000281173
329831 "chr13:20797310:G>A" "GJB6" "NM_006783:p.Arg104Cys" "NM_006783:c.310C>T" "EXON3" "Unknown significance" "rs765805775" "This variant is a VUS because it does not have enough information." 1.048 "C" "0.0" "D" "0.696" "P" 0.000741 "D" 0.997549 "N" "4.35" "C" 1 10386 0.0000962835 0 11562 0 0 8652 0 0 6612 0 0 66530 0 0 902 0 0 16328 0 1 120972 0.00000826638
329832 "chr13:20797310:G>C" "GJB6" "NM_006783:p.Arg104Gly" "NM_006783:c.310C>G" "EXON3" "Unknown significance" "rs765805775" "This variant is a VUS because it does not have enough information." 1.048 "C" "0.001" "D" "0.936" "P" 0.000741 "D" 0.999992 "N" "4.35" "C" 0 10386 0 0 11562 0 0 8652 0 0 6612 0 0 66530 0 0 902 0 2 16328 0.000122489 2 120972 0.0000165328
329833 "chr13:20797314:G>C" "GJB6" "NM_006783:p.Thr102Thr" "NM_006783:c.306C>G" "EXON3" "Unknown significance" "rs763108425" "This variant is a VUS because it does not have enough information." 0 10386 0 8 11564 0.000691802 0 8652 0 0 6612 0 0 66520 0 0 902 0 0 16330 0 8 120966 0.0000661343
329834 "chr13:20797319:C>T" "GJB6" "NM_006783:p.Glu101Lys" "NM_006783:c.301G>A" "EXON3" "Pathogenic" "Hearing loss, non-syndromic" "22106692" "rs571454176" "Pathogenicity is based on the literature provided in PubMed." 0.935 "N" "0.154" "T" "0.193" "B" 0.000137 "D" 0.952881 "D" "4.44" "C" 1 10384 0.000096302 0 11564 0 1 8650 0.000115607 0 6608 0 1 66500 0.0000150376 0 898 0 15 16268 0.000922056 18 120872 0.000148918
329835 "chr13:20797319:C>A" "GJB6" "NM_006783:p.Glu101Stop" "NM_006783:c.301G>T" "EXON3" "Unknown significance" "rs571454176" "This variant is a VUS because it does not have enough information." 0.935 "N" 0.000137 "D" 1 "D" "4.44" "C" 0 1322 0 1 1006 0.001 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
329836 "chr13:20797319:C>G" "GJB6" "NM_006783:p.Glu101Gln" "NM_006783:c.301G>C" "EXON3" "Unknown significance" "rs571454176" "This variant is a VUS because it does not have enough information." 0.935 "N" "0.137" "T" "0.183" "B" 0.000137 "D" 0.825752 "D" "4.44" "C" 0 10384 0 0 11564 0 0 8650 0 0 6608 0 0 66500 0 3 898 0.00334076 4 16268 0.000245881 7 120872 0.0000579125
329837 "chr13:20797320:G>A" "GJB6" "NM_006783:p.His100His" "NM_006783:c.300C>T" "EXON3" "Unknown significance" "rs757592980" "This variant is a VUS because it does not have enough information." 0 10384 0 5 11562 0.000432451 1 8648 0.000115634 0 6610 0 1 66488 0.0000150403 0 900 0 0 16262 0 7 120854 0.0000579211
329838 "chr13:20797322:G>A" "GJB6" "NM_006783:p.His100Tyr" "NM_006783:c.298C>T" "EXON3" "Unknown significance" "rs767824100" "This variant is a VUS because it does not have enough information." 1.048 "C" "0.008" "D" "0.999" "D" 0.000092 "D" 0.976885 "D" "5.28" "C" 0 10382 0 0 11566 0 1 8648 0.000115634 0 6612 0 0 66492 0 0 900 0 0 16256 0 1 120856 0.00000827431
329839 "chr13:20797326:G>A" "GJB6" "NM_006783:p.Tyr98Tyr" "NM_006783:c.294C>T" "EXON3" "Unknown significance" "rs753705476" "This variant is a VUS because it does not have enough information." 0 10382 0 0 11560 0 1 8650 0.000115607 0 6612 0 1 66480 0.0000150421 0 900 0 0 16238 0 2 120822 0.0000165533
329840 "chr13:20797328:A>G" "GJB6" "NM_006783:p.Tyr98His" "NM_006783:c.292T>C" "EXON3" "Likely benign" "rs142512804" "Pathogenicity is based on prediction data only. 0 out of 6 predictions were pathogenic." 0.238 "N" "0.399" "T" "0.0" "B" 0.432582 "N" 0.979035 "N" "-2.07" "N" 0 8600 0 2 4406 0.000453926 2 13006 0.000153775 0 10388 0 0 11562 0 0 8650 0 0 6610 0 1 66476 0.000015043 0 898 0 0 16242 0 1 120826 0.00000827636
329841 "chr13:20797329:G>A" "GJB6" "NM_006783:p.Tyr97Tyr" "NM_006783:c.291C>T" "EXON3" "Unknown significance" "rs370775704" "This variant is a VUS because it does not have enough information." 1 8600 0.000116279 0 4406 0 1 13006 0.0000768876 0 10384 0 0 11562 0 0 8650 0 0 6612 0 6 66478 0.0000902554 0 898 0 0 16232 0 6 120816 0.0000496623
329842 "chr13:20797332:G>A" "GJB6" "NM_006783:p.Ala96Ala" "NM_006783:c.288C>T" "EXON3" "Unknown significance" "rs747974599" "This variant is a VUS because it does not have enough information." 0 10382 0 0 11562 0 0 8652 0 0 6610 0 1 66462 0.0000150462 0 896 0 0 16212 0 1 120776 0.00000827979
329843 "chr13:20797348:->TACTACATGATTTTTAAAATAAGAGAAAATGTATATGTGTGAACTGGGGG" "GJB6" "NM_006783:c.272_273insCCCCCAGTTCACACATATACATTTTCTCTTATTTTAAAAATCATGTAGTA" "EXON3" "Unknown significance" "rs766137326" "This variant is a VUS because it does not have enough information."
329844 "chr13:20797355:G>A" "GJB6" "NM_006783:p.Leu89Leu" "NM_006783:c.265C>T" "EXON3" "Unknown significance" "rs267603771" "This variant is a VUS because it does not have enough information."
329845 "chr13:20797356:C>T" "GJB6" "NM_006783:p.Ala88Ala" "NM_006783:c.264G>A" "EXON3" "Unknown significance" "rs758356020" "This variant is a VUS because it does not have enough information." 0 10382 0 0 11558 0 0 8648 0 0 6606 0 1 66390 0.0000150625 0 894 0 5 16038 0.00031176 6 120516 0.0000497859
329846 "chr13:20797357:G>A" "GJB6" "NM_006783:p.Ala88Val" "NM_006783:c.263C>T" "EXON3" "Pathogenic" "Hidrotic ectodermal dysplasia" "20301379|11017065|12419304|24685692|15213106|23863883|24522190" "rs28937872" "Pathogenicity is based on ClinVar submissions and the literature provided in PubMed." 1.048 "C" "0.001" "D" "1.0" "D" 0 "D" 1 "A" "5.28" "C"
329847 "chr13:20797359:->T" "GJB6" "NM_006783:c.261_262insA" "EXON3" "Pathogenic" "23757202" "rs398124236" "Pathogenicity is based on ClinVar submissions. All submitters agree with this pathogenicity."
329848 "chr13:20797359:T>A" "GJB6" "NM_006783:p.Pro87Pro" "NM_006783:c.261A>T" "EXON3" "Unknown significance" "rs777309137" "This variant is a VUS because it does not have enough information." 0 10384 0 0 11554 0 3 8650 0.000346821 0 6610 0 0 66430 0 0 896 0 0 16090 0 3 120614 0.0000248727
329849 "chr13:20797364:T>G" "GJB6" "NM_006783:p.Thr86Pro" "NM_006783:c.256A>C" "EXON3" "Unknown significance" "This variant is a VUS because it does not have enough information." 1.061 "C" "0.025" "D" "0.999" "D" 0 "D" 0.999729 "D" "5.28" "C" 0 400 0 0 320 0 0 320 0 0 400 0 0 360 0 0 200 0 0 2000 0
329850 "chr13:20797370:C>T" "GJB6" "NM_006783:p.Val84Ile" "NM_006783:c.250G>A" "EXON3" "Unknown significance" "rs538884824" "This variant is a VUS because it does not have enough information." 0.935 "N" "0.027" "D" "1.0" "D" 0.000003 "D" 1 "D" "5.28" "C" 0 1322 0 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 1 5008 0.000199681
329851 "chr13:20797371:G>A" "GJB6" "NM_006783:p.Phe83Phe" "NM_006783:c.249C>T" "EXON3" "Unknown significance" "rs746502567" "This variant is a VUS because it does not have enough information." 0 10384 0 0 11556 0 0 8646 0 0 6610 0 2 66432 0.000030106 0 896 0 0 16092 0 2 120616 0.0000165815
329852 "chr13:20797374:G>T" "GJB6" "NM_006783:p.Ile82Ile" "NM_006783:c.246C>A" "EXON3" "Unknown significance" "rs770596488" "This variant is a VUS because it does not have enough information." 0 10386 0 0 11558 0 0 8650 0 0 6610 0 1 66452 0.0000150485 0 896 0 0 16110 0 1 120662 0.00000828761
329853 "chr13:20797377:C>A" "GJB6" "NM_006783:p.Leu81Leu" "NM_006783:c.243G>T" "EXON3" "Unknown significance" "rs267603772" "This variant is a VUS because it does not have enough information." 0 10384 0 0 11560 0 0 8652 0 0 6610 0 1 66450 0.0000150489 0 896 0 0 16062 0 1 120614 0.00000829091
329854 "chr13:20797377:C>G" "GJB6" "NM_006783:p.Leu81Leu" "NM_006783:c.243G>C" "EXON3" "Unknown significance" "rs267603772" "This variant is a VUS because it does not have enough information." 0 10384 0 0 11560 0 0 8652 0 0 6610 0 1 66450 0.0000150489 0 896 0 0 16062 0 1 120614 0.00000829091
329855 "chr13:20797377:C>T" "GJB6" "NM_006783:p.Leu81Leu" "NM_006783:c.243G>A" "EXON3" "Unknown significance" "rs267603772" "This variant is a VUS because it does not have enough information."
329856 "chr13:20797392:C>-" "GJB6" "NM_006783:c.228delG" "EXON3" "Unknown significance" "rs751484173" "This variant is a VUS because it does not have enough information." 0 10388 0 0 11560 0 13 8650 0.00150289 0 6610 0 0 66502 0 0 900 0 0 16228 0 13 120838 0.000107582
329857 "chr13:20797394:G>A" "GJB6" "NM_006783:p.Leu76Leu" "NM_006783:c.226C>T" "EXON3" "Unknown significance" "rs180764573" "This variant is a VUS because it does not have enough information." 0 400 0 0 320 0 0 320 0 0 400 0 1 360 0.00277778 0 200 0 1 2000 0.0005 0 1322 0 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 1 5008 0.000199681 0 10386 0 3 11558 0.00025956 0 8650 0 0 6612 0 0 66514 0 0 900 0 0 16244 0 3 120864 0.0000248213
329858 "chr13:20797396:C>T" "GJB6" "NM_006783:p.Arg75Gln" "NM_006783:c.224G>A" "EXON3" "Unknown significance" "rs775911480" "This variant is a VUS because it does not have enough information." 0.935 "N" "0.001" "D" "1.0" "D" 0.000003 "D" 0.999998 "D" "5.38" "C" 0 10388 0 0 11560 0 0 8648 0 0 6610 0 1 66530 0.0000150308 0 900 0 2 16240 0.000123153 3 120876 0.0000248188
329859 "chr13:20797405:G>A" "GJB6" "NM_006783:p.Ser72Phe" "NM_006783:c.215C>T" "EXON3" "Unknown significance" "rs763435578" "This variant is a VUS because it does not have enough information." 1.048 "C" "0.0" "D" "1.0" "D" 0 "D" 1 "D" "5.38" "C" 1 10394 0.0000962094 0 11562 0 0 8652 0 0 6612 0 0 66576 0 0 900 0 0 16358 0 1 121054 0.00000826078
329860 "chr13:20797408:A>G" "GJB6" "NM_006783:p.Val71Ala" "NM_006783:c.212T>C" "EXON3" "Unknown significance" "rs200172266" "This variant is a VUS because it does not have enough information." 1.199 "C" "0.0" "D" "0.961" "D" 0.02718 "N" 0.998829 "D" "5.38" "C" 2 8600 0.000232558 0 4406 0 2 13006 0.000153775 0 1322 0 1 1006 0.001 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681 0 10394 0 0 11562 0 0 8652 0 0 6612 0 60 66582 0.000901144 0 900 0 0 16386 0 60 121088 0.000495507
329861 "chr13:20797410:C>T" "GJB6" "NM_006783:p.Pro70Pro" "NM_006783:c.210G>A" "EXON3" "Unknown significance" "rs575963681" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681 2 10394 0.000192419 0 11564 0 0 8650 0 0 6612 0 1 66586 0.0000150182 0 900 0 0 16398 0 3 121104 0.0000247721
329862 "chr13:20797411:G>A" "GJB6" "NM_006783:p.Pro70Leu" "NM_006783:c.209C>T" "EXON3" "Unknown significance" "24033266" "rs727505123" "Pathogenicity is based on ClinVar submissions. All submitters agree with this pathogenicity." 1.048 "C" "0.0" "D" "1.0" "D" 0 "D" 1 "D" "5.38" "C" 1 10394 0.0000962094 0 11560 0 0 8650 0 0 6612 0 0 66602 0 0 900 0 1 16408 0.0000609459 2 121126 0.0000165117
329863 "chr13:20797419:G>-" "GJB6" "NM_006783:c.201delC" "EXON3" "Unknown significance" "rs759353332" "This variant is a VUS because it does not have enough information." 1 10402 0.0000961354 0 11564 0 0 8654 0 0 6614 0 0 66652 0 0 902 0 0 16470 0 1 121258 0.00000824688
329864 "chr13:20797419:G>T" "GJB6" "NM_006783:p.His67Gln" "NM_006783:c.201C>A" "EXON3" "Unknown significance" "rs554688212" "This variant is a VUS because it does not have enough information." 0.154 "N" "0.224" "T" "0.159" "B" 0 "D" 0.999742 "D" "3.63" "C" 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681 1 10400 0.0000961538 0 11564 0 0 8654 0 0 6614 0 0 66658 0 0 904 0 0 16478 0 1 121272 0.00000824593
329865 "chr13:20797441:C>A" "GJB6" "NM_006783:p.Cys60Phe" "NM_006783:c.179G>T" "EXON3" "Unknown significance" "rs750540794" "This variant is a VUS because it does not have enough information." 0.935 "N" "0.0" "D" "1.0" "D" 0 "D" 1 "D" "5.38" "C" 0 10406 0 0 11568 0 0 8654 0 0 6614 0 1 66714 0.0000149894 0 908 0 0 16510 0 1 121374 0.000008239
329866 "chr13:20797443:T>C" "GJB6" "NM_006783:p.Gly59Gly" "NM_006783:c.177A>G" "EXON3" "Unknown significance" "rs371123633" "Pathogenicity is based on ClinVar submissions. All submitters agree with this pathogenicity." 2 8600 0.000232558 0 4406 0 2 13006 0.000153775 0 10406 0 2 11568 0.000172891 0 8654 0 0 6614 0 50 66716 0.000749445 1 908 0.00110132 0 16510 0 53 121376 0.00043666
329867 "chr13:20797445:C>G" "GJB6" "NM_006783:p.Gly59Arg" "NM_006783:c.175G>C" "EXON3" "Pathogenic" "Palmoplantar keratoderma with hearing loss" "19416251|24522190" "Pathogenicity is based on the literature provided in PubMed." 0.935 "N" "0.0" "D" "1.0" "D" 0 "D" 1 "D" "5.38" "C"
329868 "chr13:20797447:G>A" "GJB6" "NM_006783:p.Pro58Leu" "NM_006783:c.173C>T" "EXON3" "Unknown significance" "rs764997003" "This variant is a VUS because it does not have enough information." 1.048 "C" "0.02" "D" "1.0" "D" 0 "D" 1 "D" "5.38" "C" 0 10406 0 3 11568 0.000259336 0 8654 0 0 6614 0 0 66720 0 0 908 0 0 16512 0 3 121382 0.0000247154
329869 "chr13:20797466:C>T" "GJB6" "NM_006783:p.Val52Ile" "NM_006783:c.154G>A" "EXON3" "Likely benign" "rs143410202" "Pathogenicity is based on prediction data only. 1 out of 6 predictions were pathogenic." 0.935 "N" "0.417" "T" "0.01" "B" 0.004327 "N" 0.999944 "N" "5.38" "C" 1 8600 0.000116279 0 4406 0 1 13006 0.0000768876 0 10406 0 0 11574 0 0 8654 0 0 6614 0 2 66736 0.0000299688 0 908 0 0 16512 0 2 121404 0.0000164739
329870 "chr13:20797467:G>A" "GJB6" "NM_006783:p.Phe51Phe" "NM_006783:c.153C>T" "EXON3" "Unknown significance" "rs185764408" "This variant is a VUS because it does not have enough information." 0 1322 0 1 1006 0.001 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681 0 10406 0 0 11574 0 0 8654 0 0 6614 0 3 66738 0.0000449519 0 908 0 1 16512 0.000060562 4 121406 0.0000329473
329871 "chr13:20797471:T>C" "GJB6" "NM_006783:p.Asp50Gly" "NM_006783:c.149A>G" "EXON3" "Unknown significance" "rs536922608" "This variant is a VUS because it does not have enough information." 1.061 "C" "0.038" "D" "0.122" "B" 0 "D" 0.999985 "D" "4.19" "C"
329872 "chr13:20797472:C>T" "GJB6" "NM_006783:p.Asp50Asn" "NM_006783:c.148G>A" "EXON3" "Pathogenic" "Hidrotic ectodermal dysplasia" "18717672" "Pathogenicity is based on the literature provided in PubMed." 0.935 "N" "0.025" "D" "0.965" "D" 0 "D" 0.999982 "D" "4.54" "C"
329873 "chr13:20797473:C>T" "GJB6" "NM_006783:p.Glu49Glu" "NM_006783:c.147G>A" "EXON3" "Unknown significance" "rs374808795" "This variant is a VUS because it does not have enough information." 1 8600 0.000116279 0 4406 0 1 13006 0.0000768876 0 10406 0 0 11578 0 0 8654 0 0 6614 0 3 66736 0.0000449532 0 908 0 0 16512 0 3 121408 0.0000247101
329874 "chr13:20797482:G>A" "GJB6" "NM_006783:p.Asp46Asp" "NM_006783:c.138C>T" "EXON3" "Unknown significance" "rs748793847" "This variant is a VUS because it does not have enough information." 0 10406 0 0 11578 0 0 8654 0 0 6614 0 2 66738 0.0000299679 0 908 0 1 16512 0.000060562 3 121410 0.0000247097
329875 "chr13:20797485:A>C" "GJB6" "NM_006783:p.Gly45Gly" "NM_006783:c.135T>G" "EXON3" "Unknown significance" "This variant is a VUS because it does not have enough information." 0 400 0 0 320 0 0 320 0 0 400 0 0 360 0 0 200 0 0 2000 0
329876 "chr13:20797487:C>T" "GJB6" "NM_006783:p.Gly45Ser" "NM_006783:c.133G>A" "EXON3" "Unknown significance" "rs756689586" "This variant is a VUS because it does not have enough information." 0.935 "N" "0.137" "T" "1.0" "D" 0 "D" 1 "D" "5.38" "C" 0 10406 0 1 11578 0.0000863707 0 8654 0 0 6614 0 0 66738 0 0 908 0 1 16512 0.000060562 2 121410 0.0000164731
329877 "chr13:20797488:C>T" "GJB6" "NM_006783:p.Trp44Stop" "NM_006783:c.132G>A" "EXON3" "Unknown significance" "rs780836560" "This variant is a VUS because it does not have enough information." 0.935 "N" 0 "D" 1 "D" "5.38" "C" 0 10406 0 0 11578 0 0 8654 0 0 6614 0 1 66738 0.000014984 0 908 0 0 16512 0 1 121410 0.00000823655
329878 "chr13:20797491:C>T" "GJB6" "NM_006783:p.Val43Val" "NM_006783:c.129G>A" "EXON3" "Unknown significance" "rs368228976" "This variant is a VUS because it does not have enough information." 0 8600 0 3 4406 0.00068089 3 13006 0.000230663 6 10404 0.000576701 0 11576 0 0 8654 0 0 6614 0 0 66738 0 0 908 0 0 16512 0 6 121406 0.000049421
329879 "chr13:20797500:G>A" "GJB6" "NM_006783:p.Ala40Ala" "NM_006783:c.120C>T" "EXON3" "Unknown significance" "rs769484704" "This variant is a VUS because it does not have enough information." 0 10404 0 2 11576 0.000172771 0 8654 0 0 6614 0 0 66732 0 0 908 0 0 16512 0 2 121400 0.0000164745
329880 "chr13:20797501:G>A" "GJB6" "NM_006783:p.Ala40Val" "NM_006783:c.119C>T" "EXON3" "Pathogenic" "Deafness" "17259707|22617145|21731760" "rs780320724" "Pathogenicity is based on the literature provided in PubMed." 1.048 "C" "0.02" "D" "1.0" "D" 0 "D" 1 "D" "5.38" "C" 0 10404 0 0 11576 0 6 8654 0.000693321 0 6614 0 0 66732 0 0 908 0 0 16512 0 6 121400 0.0000494234
329881 "chr13:20797503:A>G" "GJB6" "NM_006783:p.Ala39Ala" "NM_006783:c.117T>C" "EXON3" "Likely benign" "10610709|24033266" "rs727503070" "Pathogenicity is based on ClinVar submissions. All submitters agree with this pathogenicity." 0 10402 0 2 11576 0.000172771 0 8654 0 0 6614 0 0 66732 0 0 908 0 0 16512 0 2 121398 0.0000164747
329882 "chr13:20797507:A>C" "GJB6" "NM_006783:p.Val38Gly" "NM_006783:c.113T>G" "EXON3" "Unknown significance" "rs769308126" "This variant is a VUS because it does not have enough information." 1.199 "C" "0.0" "D" "0.999" "D" 0.000156 "D" 1 "D" "5.38" "C" 0 10402 0 0 11576 0 0 8654 0 0 6614 0 5 66730 0.0000749288 0 908 0 0 16512 0 5 121396 0.0000411875
329883 "chr13:20797509:C>T" "GJB6" "NM_006783:p.Val37Val" "NM_006783:c.111G>A" "EXON3" "Unknown significance" "rs543659673" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 0 1008 0 1 978 0.001 1 5008 0.000199681 0 10402 0 1 11574 0.0000864006 0 8654 0 0 6614 0 0 66730 0 0 908 0 43 16512 0.00260417 44 121394 0.000362456
329884 "chr13:20797510:A>T" "GJB6" "NM_006783:p.Val37Glu" "NM_006783:c.110T>A" "EXON3" "Pathogenic" "Hidrotic ectodermal dysplasia" "20301379|11874494|12419304|24522190" "rs104894416" "Pathogenicity is based on ClinVar submissions and the literature provided in PubMed." 1.199 "C" "0.001" "D" "1.0" "D" 0.000075 "D" 1 "A" "5.38" "C"
329885 "chr13:20797511:C>T" "GJB6" "NM_006783:p.Val37Met" "NM_006783:c.109G>A" "EXON3" "Unknown significance" "rs761985641" "This variant is a VUS because it does not have enough information." 0.935 "N" "0.11" "T" "1.0" "D" 0.000075 "D" 0.999996 "D" "5.38" "C" 0 10400 0 1 11574 0.0000864006 0 8652 0 0 6614 0 0 66730 0 0 908 0 1 16510 0.0000605694 2 121388 0.0000164761
329886 "chr13:20797512:G>A" "GJB6" "NM_006783:p.Leu36Leu" "NM_006783:c.108C>T" "EXON3" "Unknown significance" "rs199700601" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 1 5008 0.000199681 0 10396 0 0 11574 0 0 8652 0 0 6614 0 1 66728 0.0000149862 0 908 0 0 16510 0 1 121382 0.00000823845
329887 "chr13:20797515:G>C" "GJB6" "NM_006783:p.Ile35Met" "NM_006783:c.105C>G" "EXON3" "Unknown significance" "rs773325500" "This variant is a VUS because it does not have enough information." 1.048 "C" "0.0" "D" "0.993" "D" 0 "D" 0.9994 "D" "5.38" "C" 0 10392 0 0 11574 0 0 8652 0 0 6614 0 1 66726 0.0000149867 0 906 0 0 16510 0 1 121374 0.000008239
329888 "chr13:20797515:G>A" "GJB6" "NM_006783:p.Ile35Ile" "NM_006783:c.105C>T" "EXON3" "Unknown significance" "rs773325500" "This variant is a VUS because it does not have enough information." 0 10392 0 0 11574 0 0 8652 0 0 6614 0 1 66726 0.0000149867 0 906 0 0 16510 0 1 121374 0.000008239
329889 "chr13:20797525:C>T" "GJB6" "NM_006783:p.Arg32Gln" "NM_006783:c.95G>A" "EXON3" "Pathogenic" "Hearing loss, non-syndromic" "22106692" "rs766604251" "Pathogenicity is based on the literature provided in PubMed." 0.935 "N" "0.001" "D" "1.0" "D" 0 "D" 1 "D" "5.38" "C" 0 10384 0 0 11568 0 0 8650 0 0 6612 0 2 66702 0.0000299841 0 906 0 0 16508 0 2 121330 0.000016484
329890 "chr13:20797526:G>A" "GJB6" "NM_006783:p.Arg32Stop" "NM_006783:c.94C>T" "EXON3" "Unknown significance" "rs577509855" "This variant is a VUS because it does not have enough information." 1.048 "C" 0 "D" 1 "D" "5.38" "C" 0 1322 0 0 1006 0 0 694 0 0 1008 0 1 978 0.001 1 5008 0.000199681 0 10380 0 0 11566 0 0 8650 0 0 6612 0 1 66696 0.0000149934 0 906 0 2 16506 0.000121168 3 121316 0.0000247288
329891 "chr13:20797546:A>T" "GJB6" "NM_006783:p.Ile25Asn" "NM_006783:c.74T>A" "EXON3" "Unknown significance" "rs762699476" "This variant is a VUS because it does not have enough information." 1.199 "C" "0.0" "D" "0.67" "P" 0.009539 "N" 0.995054 "D" "5.38" "C" 0 10342 0 0 11562 0 0 8648 0 0 6612 0 0 66614 0 0 906 0 1 16500 0.0000606061 1 121184 0.00000825191
329892 "chr13:20797556:T>C" "GJB6" "NM_006783:p.Lys22Glu" "NM_006783:c.64A>G" "EXON3" "Unknown significance" "rs199552278" "This variant is a VUS because it does not have enough information." 1.061 "C" "0.001" "D" "0.996" "D" 0 "D" 0.978665 "D" "5.38" "C" 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681 1 10322 0.0000968804 0 11550 0 0 8640 0 0 6612 0 0 66544 0 0 906 0 0 16492 0 1 121066 0.00000825996
329893 "chr13:20797557:C>-" "GJB6" "NM_006783:c.63delG" "EXON3" "Unknown significance" "rs770612890" "03/10/2016 -- Manually curated by the MORL." 0 10322 0 0 11550 0 0 8640 0 0 6612 0 27 66544 0.000405747 0 906 0 0 16492 0 27 121066 0.000223019
329894 "chr13:20797559:C>G" "GJB6" "NM_006783:p.Gly21Arg" "NM_006783:c.61G>C" "EXON3" "Unknown significance" "rs751440971" "This variant is a VUS because it does not have enough information." 0.935 "N" "0.0" "D" "1.0" "D" 0 "D" 1 "D" "5.38" "C" 0 10310 0 0 11548 0 0 8638 0 0 6612 0 0 66522 0 0 906 0 1 16492 0.0000606355 1 121028 0.00000826255
329895 "chr13:20797559:C>T" "GJB6" "NM_006783:p.Gly21Arg" "NM_006783:c.61G>A" "EXON3" "Unknown significance" "rs751440971" "This variant is a VUS because it does not have enough information." 0.935 "N" "0.0" "D" "1.0" "D" 0 "D" 1 "D" "5.38" "C" 1 10310 0.0000969932 0 11548 0 0 8638 0 0 6612 0 0 66522 0 0 906 0 1 16492 0.0000606355 2 121028 0.0000165251
329896 "chr13:20797560:CG>-" "GJB6" "NM_006783:c.60_63delCG" "EXON3" "Likely pathogenic" "Deafness, autosomal dominant 3b; Deafness, autosomal dominant 3B" "20301607|24033266|20301708" "rs397517206" "Pathogenicity is based on ClinVar submissions. All submitters agree with this pathogenicity."
329897 "chr13:20797560:G>A" "GJB6" "NM_006783:p.Ile20Ile" "NM_006783:c.60C>T" "EXON3" "Unknown significance" "rs778513540" "This variant is a VUS because it does not have enough information." 0 10298 0 0 11542 0 0 8638 0 0 6612 0 27 66502 0.000406003 0 906 0 0 16488 0 27 120986 0.000223166
329898 "chr13:20797562:T>G" "GJB6" "NM_006783:p.Ile20Leu" "NM_006783:c.58A>C" "EXON3" "Unknown significance" "rs749915780" "This variant is a VUS because it does not have enough information." 1.061 "C" "0.246" "T" "0.0" "B" 0.000074 "D" 0.989537 "D" "5.38" "C" 1 10298 0.0000971062 0 11542 0 0 8638 0 0 6612 0 0 66502 0 0 906 0 0 16490 0 1 120988 0.00000826528
329899 "chr13:20797573:T>G" "GJB6" "NM_006783:p.His16Pro" "NM_006783:c.47A>C" "EXON3" "Unknown significance" "This variant is a VUS because it does not have enough information." 1.061 "C" "0.003" "D" "0.993" "D" 0.000129 "D" 0.999999 "D" "5.38" "C" 0 400 0 0 320 0 0 320 0 0 400 0 0 360 0 0 200 0 0 2000 0
329900 "chr13:20797578:G>A" "GJB6" "NM_006783:p.Asn14Asn" "NM_006783:c.42C>T" "EXON3" "Unknown significance" "rs372474784" "This variant is a VUS because it does not have enough information." 0 8600 0 1 4406 0.000226963 1 13006 0.0000768876
329901 "chr13:20797579:T>A" "GJB6" "NM_006783:p.Asn14Ile" "NM_006783:c.41A>T" "EXON3" "Unknown significance" "rs755769938" "This variant is a VUS because it does not have enough information." 1.061 "C" "0.0" "D" "1.0" "D" 0.000039 "D" 0.999993 "D" "5.38" "C" 0 10244 0 0 11534 0 0 8632 0 0 6612 0 0 66348 0 0 906 0 1 16480 0.0000606796 1 120756 0.00000828116
329902 "chr13:20797584:A>C" "GJB6" "NM_006783:p.Gly12Gly" "NM_006783:c.36T>G" "EXON3" "Benign" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 0 400 0 0 320 0 1 320 0.003125 0 400 0 0 360 0 1 200 0.005 2 2000 0.001
329903 "chr13:20797585:C>T" "GJB6" "NM_006783:p.Gly12Asp" "NM_006783:c.35G>A" "EXON3" "Unknown significance" "rs779708708" "This variant is a VUS because it does not have enough information." 0.935 "N" "0.005" "D" "1.0" "D" 0.000016 "D" 1 "D" "5.38" "C" 0 10218 0 0 11526 0 0 8628 0 0 6612 0 0 66268 0 0 904 0 1 16474 0.0000607017 1 120630 0.00000828981
329904 "chr13:20797589:C>T" "GJB6" "NM_006783:p.Gly11Arg" "NM_006783:c.31G>A" "EXON3" "Pathogenic" "Hidrotic ectodermal dysplasia" "12419304|15769851|23219093|20536673|20301379|11017065|15213106|24033266|24514865" "rs104894415" "Pathogenicity is based on ClinVar submissions and the literature provided in PubMed." 0.935 "N" "0.003" "D" "1.0" "D" 0.000127 "D" 0.999923 "A" "5.38" "C"
329905 "chr13:20797589:C>G" "GJB6" "NM_006783:p.Gly11Arg" "NM_006783:c.31G>C" "EXON3" "Pathogenic" "Clouston syndrome" "23219093" "Pathogenicity is based on the literature provided in PubMed." 0.935 "N" "0.003" "D" "0.999" "D" 0.000127 "D" 0.999918 "D" "5.38" "C"
329906 "chr13:20797590:G>A" "GJB6" "NM_006783:p.Ile10Ile" "NM_006783:c.30C>T" "EXON3" "Unknown significance" "rs377181573" "This variant is a VUS because it does not have enough information." 1 8600 0.000116279 0 4406 0 1 13006 0.0000768876 0 1322 0 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 1 5008 0.000199681 0 10212 0 2 11518 0.000173641 0 8626 0 0 6612 0 9 66218 0.000135915 0 904 0 1 16468 0.0000607238 12 120558 0.0000995372
329907 "chr13:20797592:T>A" "GJB6" "NM_006783:p.Ile10Phe" "NM_006783:c.28A>T" "EXON3" "Unknown significance" "rs769071134" "This variant is a VUS because it does not have enough information." 1.061 "C" "0.001" "D" "0.425" "B" 0.00179 "N" 0.990789 "D" "1.47" "C" 0 10210 0 0 11518 0 0 8626 0 0 6612 0 1 66204 0.0000151048 0 904 0 0 16466 0 1 120540 0.000008296
329908 "chr13:20797593:G>A" "GJB6" "NM_006783:p.Phe9Phe" "NM_006783:c.27C>T" "EXON3" "Unknown significance" "rs779571160" "This variant is a VUS because it does not have enough information." 0 10198 0 0 11518 0 1 8626 0.000115929 0 6612 0 0 66184 0 0 904 0 0 16466 0 1 120508 0.0000082982
329909 "chr13:20797600:T>C" "GJB6" "NM_006783:p.His7Arg" "NM_006783:c.20A>G" "EXON3" "Unknown significance" "rs748719517" "This variant is a VUS because it does not have enough information." 1.061 "C" "0.765" "T" "0.457" "P" 0.002009 "N" 0.983166 "D" "5.38" "C" 0 10180 0 0 11516 0 0 8622 0 0 6612 0 1 66100 0.0000151286 0 904 0 0 16464 0 1 120398 0.00000830579
329910 "chr13:20797601:G>A" "GJB6" "NM_006783:p.His7Tyr" "NM_006783:c.19C>T" "EXON3" "Likely benign" "rs140734037" "Pathogenicity is based on prediction data only. 2 out of 6 predictions were pathogenic." 0.126 "N" "0.386" "T" "0.001" "B" 0.002009 "N" 0.828123 "D" "4.54" "C" 0 8600 0 2 4406 0.000453926 2 13006 0.000153775 1 10166 0.0000983671 0 11516 0 0 8622 0 0 6612 0 0 66088 0 0 902 0 0 16464 0 1 120370 0.00000830772
329911 "chr13:20797605:C>T" "GJB6" "NM_006783:p.Thr5Thr" "NM_006783:c.15G>A" "EXON3" "Benign" "rs150075979" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 0 8600 0 17 4406 0.00385837 17 13006 0.00130709 0 400 0 2 320 0.00625 0 320 0 0 400 0 0 360 0 0 200 0 2 2000 0.001 5 1322 0.0038 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 6 5008 0.00119808 43 10158 0.00423312 2 11506 0.000173822 0 8620 0 0 6612 0 1 66046 0.000015141 1 900 0.00111111 2 16460 0.000121507 49 120302 0.000407308
329912 "chr13:20797605:C>A" "GJB6" "NM_006783:p.Thr5Thr" "NM_006783:c.15G>T" "EXON3" "Unknown significance" "23757202" "rs150075979" "Pathogenicity is based on ClinVar submissions. All submitters agree with this pathogenicity."
329913 "chr13:20797606:G>A" "GJB6" "NM_006783:p.Thr5Met" "NM_006783:c.14C>T" "EXON3" "Pathogenic" "Deafness, autosomal dominant 3" "20858605|20301607|10471490|20301708|12419304|24522190|16217030" "rs104894414" "Pathogenicity is based on ClinVar submissions and the literature provided in PubMed." 0.137 "N" "0.093" "T" "0.999" "D" 0.030004 "N" 0.000000000374956 "A" "3.64" "C" 0 10148 0 1 11506 0.0000869112 0 8618 0 0 6612 0 3 66018 0.0000454422 0 898 0 0 16454 0 4 120254 0.0000332629
329914 "chr13:20797614:A>G" "GJB6" "NM_006783:p.Asp2Asp" "NM_006783:c.6T>C" "EXON3" "Unknown significance" "rs200415730" "This variant is a VUS because it does not have enough information." 0 8600 0 1 4404 0.000227066 1 13004 0.0000768994 2 1322 0.0015 0 1006 0 0 694 0 0 1008 0 0 978 0 2 5008 0.000399361 12 10102 0.00118788 0 11500 0 0 8618 0 0 6612 0 0 65874 0 0 900 0 0 16452 0 12 120058 0.0000999517
329915 "chr13:20797619:T>C" "GJB6" "NM_006783:p.Met1Val" "NM_006783:c.1A>G" "EXON3" "Unknown significance" "rs776848994" "This variant is a VUS because it does not have enough information." 1.061 "C" "0.0" "D" "0.998" "D" 0 "D" 1 "D" "5.38" "C" 1 400 0.0025 0 320 0 0 320 0 0 400 0 0 360 0 0 200 0 1 2000 0.0005 0 10060 0 0 11498 0 0 8618 0 0 6612 0 3 65776 0.0000456093 0 898 0 0 16450 0 3 119912 0.0000250183
329916 "chr13:20797622:C>T" "GJB6" "NM_006783:c.-3G>A" "FIVE_PRIME_EXON" "Unknown significance" "rs372835743" "This variant is a VUS because it does not have enough information." 1 8600 0.000116279 0 4404 0 1 13004 0.0000768994 0 10052 0 0 11498 0 1 8618 0.000116036 0 6612 0 2 65770 0.000030409 0 898 0 0 16450 0 3 119898 0.0000250213
329917 "chr13:20797623:G>A" "GJB6" "NM_006783:c.-4C>T" "FIVE_PRIME_EXON" "Unknown significance" "rs763934528" "This variant is a VUS because it does not have enough information." 0 10050 0 2 11494 0.000174004 0 8618 0 0 6612 0 1 65748 0.0000152096 0 898 0 0 16444 0 3 119864 0.0000250284
329918 "chr13:20797627:G>A" "GJB6" "NM_006783:c.-8C>T" "FIVE_PRIME_EXON" "Unknown significance" "rs374920634" "This variant is a VUS because it does not have enough information." 3 8598 0.000348918 0 4404 0 3 13002 0.000230734 0 9986 0 0 11492 0 0 8614 0 0 6612 0 3 65674 0.0000456802 0 898 0 0 16440 0 3 119716 0.0000250593
329919 "chr13:20797633:C>A" "GJB6" "NM_006783:c.-14G>T" "FIVE_PRIME_EXON" "Unknown significance" "rs761780116" "This variant is a VUS because it does not have enough information." 0 9950 0 0 11490 0 0 8614 0 0 6612 0 1 65628 0.0000152374 0 894 0 0 16436 0 1 119624 0.00000835953
329920 "chr13:20797635:C>G" "GJB6" "NM_006783:c.-15-1G>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs56051256" "This variant is a VUS because it does not have enough information." 1 8594 0.00011636 0 4404 0 1 12998 0.0000769349
329921 "chr13:20797635:C>T" "GJB6" "NM_006783:c.-15-1G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs56051256" "This variant is a VUS because it does not have enough information."
329922 "chr13:20797636:T>A" "GJB6" "NM_006783:c.-15-2A>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs767466713" "This variant is a VUS because it does not have enough information."
329923 "chr13:20797640:C>T" "GJB6" "NM_006783:c.-15-6G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs749922524" "This variant is a VUS because it does not have enough information." 0 9914 0 0 11484 0 0 8610 0 0 6612 0 1 65590 0.0000152462 0 896 0 7 16438 0.000425843 8 119544 0.000066921
329924 "chr13:20797648:A>G" "GJB6" "NM_006783:c.-15-14T>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs755610118" "This variant is a VUS because it does not have enough information." 0 9868 0 0 11484 0 1 8606 0.000116198 0 6612 0 0 65534 0 0 892 0 0 16434 0 1 119430 0.00000837311
329925 "chr13:20797651:G>A" "GJB6" "NM_006783:c.-15-17C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs765950906" "This variant is a VUS because it does not have enough information." 0 9834 0 0 11484 0 0 8606 0 0 6612 0 0 65506 0 0 892 0 1 16432 0.0000608569 1 119366 0.00000837759
329926 "chr13:20797659:G>C" "GJB6" "NM_006783:c.-15-25C>G" "FIVE_PRIME_INTRON" "Unknown significance" "rs558348717" "This variant is a VUS because it does not have enough information."
329927 "chr13:20797668:->T" "GJB6" "NM_006783:c.-15-34_-15-33insA" "FIVE_PRIME_INTRON" "Unknown significance" "rs747786856" "This variant is a VUS because it does not have enough information." 0 9698 0 0 11476 0 0 8602 0 0 6612 0 2 65368 0.000030596 0 890 0 0 16416 0 2 119062 0.000016798
329928 "chr13:20797670:G>T" "GJB6" "NM_006783:c.-15-36C>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs753479658" "This variant is a VUS because it does not have enough information." 0 9680 0 0 11478 0 0 8598 0 0 6612 0 1 65350 0.0000153022 0 890 0 1 16416 0.0000609162 2 119024 0.0000168033
329929 "chr13:20797694:G>A" "GJB6" "NM_006783:c.-15-60C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs141293990" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 0 1008 0 0 978 0 0 5008 0
329930 "chr13:20797737:G>C" "GJB6" "NM_006783:c.-15-103C>G" "FIVE_PRIME_INTRON" "Unknown significance" "rs371955031" "This variant is a VUS because it does not have enough information."
329931 "chr13:20797824:GC>-" "GJB6" "NM_006783:c.-15-190_-15-187delGC" "FIVE_PRIME_INTRON" "Unknown significance" "rs573850279" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 4 1008 0.004 0 978 0 4 5008 0.000798722
329932 "chr13:20797842:C>T" "GJB6" "NM_006783:c.-15-208G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs530865708" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
329933 "chr13:20797868:G>A" "GJB6" "NM_006783:c.-15-234C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs549718931" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 1 5008 0.000199681
329934 "chr13:20797875:C>T" "GJB6" "NM_006783:c.-15-241G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs575990264" "This variant is a VUS because it does not have enough information." 2 1322 0.0015 0 1006 0 0 694 0 0 1008 0 0 978 0 2 5008 0.000399361
329935 "chr13:20797888:A>T" "GJB6" "NM_006783:c.-15-254T>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs532347833" "This variant is a VUS because it does not have enough information." 0 1322 0 1 1006 0.001 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
329936 "chr13:20797900:C>G" "GJB6" "NM_006783:c.-15-266G>C" "FIVE_PRIME_INTRON" "Benign" "rs145073086" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 28 1322 0.0212 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 29 5008 0.00579073
329937 "chr13:20797919:A>G" "GJB6" "NM_006783:c.-15-285T>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs576590843" "This variant is a VUS because it does not have enough information."
329938 "chr13:20797932:A>G" "GJB6" "NM_006783:c.-15-298T>C" "FIVE_PRIME_INTRON" "Benign" "rs138802045" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 136 1322 0.1029 0 1006 0 7 694 0.0101 0 1008 0 0 978 0 143 5008 0.0285543
329939 "chr13:20797948:C>T" "GJB6" "NM_006783:c.-15-314G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs778841285" "This variant is a VUS because it does not have enough information."
329940 "chr13:20797950:A>-" "GJB6" "NM_006783:c.-15-316delT" "FIVE_PRIME_INTRON" "Benign" "rs562426904" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 109 1322 0.0825 0 1006 0 7 694 0.0101 1 1008 0.001 1 978 0.001 118 5008 0.0235623
329941 "chr13:20797963:C>T" "GJB6" "NM_006783:c.-15-329G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs541171147" "This variant is a VUS because it does not have enough information."
329942 "chr13:20797969:G>A" "GJB6" "NM_006783:c.-15-335C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs536276637" "This variant is a VUS because it does not have enough information." 0 1322 0 1 1006 0.001 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
329943 "chr13:20797977:G>A" "GJB6" "NM_006783:c.-15-343C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs554560949" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 0 1006 0 0 694 0 1 1008 0.001 1 978 0.001 3 5008 0.000599042
329944 "chr13:20798007:C>T" "GJB6" "NM_006783:c.-15-373G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs746023366" "This variant is a VUS because it does not have enough information."
329945 "chr13:20798013:C>T" "GJB6" "NM_006783:c.-15-379G>A" "FIVE_PRIME_INTRON" "Benign" "rs61951971" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 0 1322 0 5 1006 0.005 0 694 0 0 1008 0 0 978 0 5 5008 0.000998403
329946 "chr13:20798038:G>T" "GJB6" "NM_006783:c.-15-404C>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs370731073" "This variant is a VUS because it does not have enough information."
329947 "chr13:20798064:C>T" "GJB6" "NM_006783:c.-15-430G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs780266351" "This variant is a VUS because it does not have enough information."
329948 "chr13:20798075:C>T" "GJB6" "NM_006783:c.-15-441G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs537144077" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
329949 "chr13:20798094:C>T" "GJB6" "NM_006783:c.-15-460G>A" "FIVE_PRIME_INTRON" "Benign" "rs113408082" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 49 1322 0.0371 0 1006 0 3 694 0.0043 0 1008 0 0 978 0 52 5008 0.0103834
329950 "chr13:20798099:CT>-" "GJB6" "NM_006783:c.-15-465_-15-462delAG" "FIVE_PRIME_INTRON" "Unknown significance" "rs771790160" "This variant is a VUS because it does not have enough information."
329951 "chr13:20798109:A>-" "GJB6" "NM_006783:c.-15-475delT" "FIVE_PRIME_INTRON" "Unknown significance" "rs751899723" "This variant is a VUS because it does not have enough information."
329952 "chr13:20798123:A>G" "GJB6" "NM_006783:c.-15-489T>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs747323808" "This variant is a VUS because it does not have enough information."
329953 "chr13:20798129:T>-" "GJB6" "NM_006783:c.-15-495delA" "FIVE_PRIME_INTRON" "Unknown significance" "rs34029676" "This variant is a VUS because it does not have enough information."
329954 "chr13:20798167:A>T" "GJB6" "NM_006783:c.-15-533T>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs577346373" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
329955 "chr13:20798177:T>G" "GJB6" "NM_006783:c.-15-543A>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs535042895" "This variant is a VUS because it does not have enough information." 0 1322 0 1 1006 0.001 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
329956 "chr13:20798182:C>T" "GJB6" "NM_006783:c.-15-548G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs376707470" "This variant is a VUS because it does not have enough information."
329957 "chr13:20798240:A>G" "GJB6" "NM_006783:c.-15-606T>C" "FIVE_PRIME_INTRON" "Benign" "rs877098" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 732 1322 0.5537 501 1006 0.498 478 694 0.6888 684 1008 0.6786 609 978 0.6227 3004 5008 0.59984
329958 "chr13:20798313:C>T" "GJB6" "NM_006783:c.-15-679G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs150579645" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 0 978 0 1 5008 0.000199681
329959 "chr13:20798329:A>G" "GJB6" "NM_006783:c.-15-695T>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs541824303" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 0 1008 0 3 978 0.0031 3 5008 0.000599042
329960 "chr13:20798358:G>A" "GJB6" "NM_006783:c.-15-724C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs138648396" "This variant is a VUS because it does not have enough information." 0 1322 0 1 1006 0.001 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
329961 "chr13:20798360:->A" "GJB6" "NM_006783:c.-15-726_-15-725insT" "FIVE_PRIME_INTRON" "Unknown significance" "rs560317229" "This variant is a VUS because it does not have enough information." 4 1322 0.003 1 1006 0.001 1 694 0.0014 1 1008 0.001 0 978 0 7 5008 0.00139776
329962 "chr13:20798378:A>G" "GJB6" "NM_006783:c.-15-744T>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs71424085" "This variant is a VUS because it does not have enough information."
329963 "chr13:20798495:C>T" "GJB6" "NM_006783:c.-15-861G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs772353293" "This variant is a VUS because it does not have enough information."
329964 "chr13:20798501:T>C" "GJB6" "NM_006783:c.-15-867A>G" "FIVE_PRIME_INTRON" "Benign" "rs188517249" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 0 1322 0 0 1006 0 0 694 0 6 1008 0.006 0 978 0 6 5008 0.00119808
329965 "chr13:20798548:A>-" "GJB6" "NM_006783:c.-15-914delT" "FIVE_PRIME_INTRON" "Unknown significance" "rs760223196" "This variant is a VUS because it does not have enough information."
329966 "chr13:20798575:A>T" "GJB6" "NM_006783:c.-15-941T>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs546210589" "This variant is a VUS because it does not have enough information."
329967 "chr13:20798607:A>G" "GJB6" "NM_006783:c.-15-973T>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs775852515" "This variant is a VUS because it does not have enough information."
329968 "chr13:20798620:C>T" "GJB6" "NM_006783:c.-15-986G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs761096233" "This variant is a VUS because it does not have enough information."
329969 "chr13:20798621:G>A" "GJB6" "NM_006783:c.-15-987C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs563651922" "This variant is a VUS because it does not have enough information."
329970 "chr13:20798640:C>T" "GJB6" "NM_006783:c.-15-1006G>A" "FIVE_PRIME_INTRON" "Benign" "rs56976817" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 132 1322 0.0998 1 1006 0.001 7 694 0.0101 0 1008 0 0 978 0 140 5008 0.0279553
329971 "chr13:20798651:T>G" "GJB6" "NM_006783:c.-15-1017A>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs7329051" "This variant is a VUS because it does not have enough information."
329972 "chr13:20798653:C>T" "GJB6" "NM_006783:c.-15-1019G>A" "FIVE_PRIME_INTRON" "Benign" "rs181742460" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 0 1322 0 1 1006 0.001 0 694 0 9 1008 0.0089 0 978 0 10 5008 0.00199681
329973 "chr13:20798654:G>A" "GJB6" "NM_006783:c.-15-1020C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs532316495" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 0 978 0 1 5008 0.000199681
329974 "chr13:20798659:G>A" "GJB6" "NM_006783:c.-15-1025C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs187167817" "This variant is a VUS because it does not have enough information." 5 1322 0.0038 0 1006 0 0 694 0 0 1008 0 0 978 0 5 5008 0.000998403
329975 "chr13:20798671:A>C" "GJB6" "NM_006783:c.-15-1037T>G" "FIVE_PRIME_INTRON" "Unknown significance" "rs559690727" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
329976 "chr13:20798761:A>G" "GJB6" "NM_006783:c.-15-1127T>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs191549726" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 0 978 0 1 5008 0.000199681
329977 "chr13:20798767:A>T" "GJB6" "NM_006783:c.-15-1133T>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs531253934" "This variant is a VUS because it does not have enough information."
329978 "chr13:20798796:C>A" "GJB6" "NM_006783:c.-15-1162G>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs548250062" "This variant is a VUS because it does not have enough information." 2 1322 0.0015 0 1006 0 0 694 0 0 1008 0 0 978 0 2 5008 0.000399361
329979 "chr13:20798830:G>C" "GJB6" "NM_006783:c.-15-1196C>G" "FIVE_PRIME_INTRON" "Unknown significance" "rs184190484" "This variant is a VUS because it does not have enough information." 6 1322 0.0045 0 1006 0 0 694 0 0 1008 0 0 978 0 6 5008 0.00119808
329980 "chr13:20798833:C>T" "GJB6" "NM_006783:c.-15-1199G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs536774499" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 0 1008 0 3 978 0.0031 3 5008 0.000599042
329981 "chr13:20798858:->G" "GJB6" "NM_006783:c.-15-1224_-15-1223insC" "FIVE_PRIME_INTRON" "Unknown significance" "rs769269262" "This variant is a VUS because it does not have enough information."
329982 "chr13:20798879:A>G" "GJB6" "NM_006783:c.-15-1245T>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs186138636" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 0 978 0 1 5008 0.000199681
329983 "chr13:20798909:C>T" "GJB6" "NM_006783:c.-15-1275G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs767223361" "This variant is a VUS because it does not have enough information."
329984 "chr13:20798930:T>C" "GJB6" "NM_006783:c.-15-1296A>G" "FIVE_PRIME_INTRON" "Unknown significance" "rs189765640" "This variant is a VUS because it does not have enough information."
329985 "chr13:20798946:C>T" "GJB6" "NM_006783:c.-15-1312G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs752423662" "This variant is a VUS because it does not have enough information."
329986 "chr13:20798956:G>A" "GJB6" "NM_006783:c.-15-1322C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs182063498" "This variant is a VUS because it does not have enough information." 0 1322 0 1 1006 0.001 1 694 0.0014 0 1008 0 0 978 0 2 5008 0.000399361
329987 "chr13:20799011:G>T" "GJB6" "NM_006783:c.-15-1377C>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs535241689" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 0 1008 0 3 978 0.0031 3 5008 0.000599042
329988 "chr13:20799056:G>A" "GJB6" "NM_006783:c.-15-1422C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs553102856" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
329989 "chr13:20799064:G>C" "GJB6" "NM_006783:c.-15-1430C>G" "FIVE_PRIME_INTRON" "Benign" "rs115308867" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 11 1322 0.0083 0 1006 0 2 694 0.0029 0 1008 0 0 978 0 13 5008 0.00259585
329990 "chr13:20799105:C>T" "GJB6" "NM_006783:c.-15-1471G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs149285304" "This variant is a VUS because it does not have enough information." 5 1322 0.0038 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 6 5008 0.00119808
329991 "chr13:20799149:A>G" "GJB6" "NM_006783:c.-15-1515T>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs556980536" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 0 978 0 1 5008 0.000199681
329992 "chr13:20799155:G>A" "GJB6" "NM_006783:c.-15-1521C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs575570744" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 0 978 0 1 5008 0.000199681
329993 "chr13:20799160:G>T" "GJB6" "NM_006783:c.-15-1526C>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs765362062" "This variant is a VUS because it does not have enough information."
329994 "chr13:20799162:C>T" "GJB6" "NM_006783:c.-15-1528G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs547614320" "This variant is a VUS because it does not have enough information."
329995 "chr13:20799174:G>T" "GJB6" "NM_006783:c.-15-1540C>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs374567203" "This variant is a VUS because it does not have enough information."
329996 "chr13:20799209:G>A" "GJB6" "NM_006783:c.-15-1575C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs546013164" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
329997 "chr13:20799216:A>G" "GJB6" "NM_006783:c.-15-1582T>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs750646193" "This variant is a VUS because it does not have enough information."
329998 "chr13:20799243:C>T" "GJB6" "NM_006783:c.-15-1609G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs564678860" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 0 978 0 1 5008 0.000199681
329999 "chr13:20799257:G>A" "GJB6" "NM_006783:c.-15-1623C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs139704012" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 0 978 0 1 5008 0.000199681
330000 "chr13:20799270:G>A" "GJB6" "NM_006783:c.-15-1636C>T" "FIVE_PRIME_INTRON" "Benign" "rs75243051" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 0 1322 0 0 1006 0 0 694 0 19 1008 0.0188 0 978 0 19 5008 0.00379393
330001 "chr13:20799290:T>C" "GJB6" "NM_006783:c.-15-1656A>G" "FIVE_PRIME_INTRON" "Unknown significance" "rs528637665" "This variant is a VUS because it does not have enough information."
330002 "chr13:20799304:T>C" "GJB6" "NM_006783:c.-15-1670A>G" "FIVE_PRIME_INTRON" "Unknown significance" "rs546873911" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 1 5008 0.000199681
330003 "chr13:20799330:C>A" "GJB6" "NM_006783:c.-15-1696G>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs530064164" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 0 1006 0 1 694 0.0014 1 1008 0.001 0 978 0 3 5008 0.000599042
330004 "chr13:20799331:C>A" "GJB6" "NM_006783:c.-15-1697G>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs548484993" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 0 978 0 1 5008 0.000199681
330005 "chr13:20799334:C>T" "GJB6" "NM_006783:c.-15-1700G>A" "FIVE_PRIME_INTRON" "Benign" "rs114364802" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 132 1322 0.0998 0 1006 0 8 694 0.0115 0 1008 0 0 978 0 140 5008 0.0279553
330006 "chr13:20799345:G>-" "GJB6" "NM_006783:c.-15-1711delC" "FIVE_PRIME_INTRON" "Unknown significance" "rs34989281" "This variant is a VUS because it does not have enough information."
330007 "chr13:20799352:C>T" "GJB6" "NM_006783:c.-15-1718G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs145111533" "This variant is a VUS because it does not have enough information." 5 1322 0.0038 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 6 5008 0.00119808
330008 "chr13:20799361:T>C" "GJB6" "NM_006783:c.-15-1727A>G" "FIVE_PRIME_INTRON" "Unknown significance" "rs551860754" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
330009 "chr13:20799367:C>T" "GJB6" "NM_006783:c.-15-1733G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs570529172" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 0 1008 0 1 978 0.001 1 5008 0.000199681
330010 "chr13:20799415:C>T" "GJB6" "NM_006783:c.-15-1781G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs187017826" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 1 978 0.001 2 5008 0.000399361
330011 "chr13:20799425:C>T" "GJB6" "NM_006783:c.-15-1791G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs546829054" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 0 1008 0 1 978 0.001 1 5008 0.000199681
330012 "chr13:20799454:A>G" "GJB6" "NM_006783:c.-15-1820T>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs763172122" "This variant is a VUS because it does not have enough information."
330013 "chr13:20799481:G>A" "GJB6" "NM_006783:c.-15-1847C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs193004114" "This variant is a VUS because it does not have enough information."
330014 "chr13:20799485:C>T" "GJB6" "NM_006783:c.-15-1851G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs377742766" "This variant is a VUS because it does not have enough information."
330015 "chr13:20799486:G>A" "GJB6" "NM_006783:c.-15-1852C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs565806621" "This variant is a VUS because it does not have enough information."
330016 "chr13:20799516:G>A" "GJB6" "NM_006783:c.-15-1882C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs535948201" "This variant is a VUS because it does not have enough information."
330017 "chr13:20799518:A>G" "GJB6" "NM_006783:c.-15-1884T>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs778911442" "This variant is a VUS because it does not have enough information."
330018 "chr13:20799525:T>C" "GJB6" "NM_006783:c.-15-1891A>G" "FIVE_PRIME_INTRON" "Unknown significance" "rs750410685" "This variant is a VUS because it does not have enough information."
330019 "chr13:20799530:C>G" "GJB6" "NM_006783:c.-15-1896G>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs56216347" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 0 1008 0 2 978 0.002 2 5008 0.000399361
330020 "chr13:20799530:C>T" "GJB6" "NM_006783:c.-15-1896G>A" "FIVE_PRIME_INTRON" "Benign" "rs56216347" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 140 1322 0.1059 65 1006 0.0646 38 694 0.0548 2 1008 0.002 20 978 0.0204 265 5008 0.0529153
330021 "chr13:20799549:T>G" "GJB6" "NM_006783:c.-15-1915A>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs557215819" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
330022 "chr13:20799572:T>A" "GJB6" "NM_006783:c.-15-1938A>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs147173302" "This variant is a VUS because it does not have enough information." 2 1322 0.0015 0 1006 0 0 694 0 0 1008 0 0 978 0 2 5008 0.000399361
330023 "chr13:20799618:G>A" "GJB6" "NM_006783:c.-15-1984C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs539841393" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
330024 "chr13:20799621:T>C" "GJB6" "NM_006783:c.-15-1987A>G" "FIVE_PRIME_INTRON" "Unknown significance" "rs557827924" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
330025 "chr13:20799704:T>G" "GJB6" "NM_006783:c.-15-2070A>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs569279160" "This variant is a VUS because it does not have enough information."
330026 "chr13:20799716:T>A" "GJB6" "NM_006783:c.-15-2082A>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs752524582" "This variant is a VUS because it does not have enough information."
330027 "chr13:20799823:C>T" "GJB6" "NM_006783:c.-15-2189G>A" "FIVE_PRIME_INTRON" "Benign" "rs9315399" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 724 1322 0.5477 494 1006 0.4911 474 694 0.683 683 1008 0.6776 593 978 0.6063 2968 5008 0.592652
330028 "chr13:20799842:G>A" "GJB6" "NM_006783:c.-15-2208C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs540728270" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 4 1008 0.004 0 978 0 4 5008 0.000798722
330029 "chr13:20799882:T>G" "GJB6" "NM_006783:c.-15-2248A>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs148603355" "This variant is a VUS because it does not have enough information." 0 1322 0 1 1006 0.001 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
330030 "chr13:20799886:T>C" "GJB6" "NM_006783:c.-15-2252A>G" "FIVE_PRIME_INTRON" "Unknown significance" "rs574672885" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
330031 "chr13:20799927:C>T" "GJB6" "NM_006783:c.-15-2293G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs542013661" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 0 1008 0 1 978 0.001 1 5008 0.000199681
330032 "chr13:20799928:G>A" "GJB6" "NM_006783:c.-15-2294C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs142067194" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 2 1008 0.002 0 978 0 2 5008 0.000399361
330033 "chr13:20799940:G>A" "GJB6" "NM_006783:c.-15-2306C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs747201113" "This variant is a VUS because it does not have enough information."
330034 "chr13:20799942:G>C" "GJB6" "NM_006783:c.-15-2308C>G" "FIVE_PRIME_INTRON" "Benign" "rs112581136" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 87 1322 0.0658 0 1006 0 7 694 0.0101 0 1008 0 0 978 0 94 5008 0.01877
330035 "chr13:20799956:A>G" "GJB6" "NM_006783:c.-15-2322T>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs367555323" "This variant is a VUS because it does not have enough information."
330036 "chr13:20799977:G>C" "GJB6" "NM_006783:c.-15-2343C>G" "FIVE_PRIME_INTRON" "Benign" "rs6490528" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 1212 1322 0.9168 1000 1006 0.994 683 694 0.9841 1008 1008 1 978 978 1 4881 5008 0.974641
330037 "chr13:20799980:A>G" "GJB6" "NM_006783:c.-15-2346T>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs376817449" "This variant is a VUS because it does not have enough information."
330038 "chr13:20799982:C>A" "GJB6" "NM_006783:c.-15-2348G>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs151314715" "This variant is a VUS because it does not have enough information." 6 1322 0.0045 0 1006 0 0 694 0 0 1008 0 0 978 0 6 5008 0.00119808
330039 "chr13:20799983:G>A" "GJB6" "NM_006783:c.-15-2349C>T" "FIVE_PRIME_INTRON" "Benign" "rs182952966" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 7 1322 0.0053 0 1006 0 2 694 0.0029 0 1008 0 0 978 0 9 5008 0.00179712
330040 "chr13:20800002:A>G" "GJB6" "NM_006783:c.-15-2368T>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs770135075" "This variant is a VUS because it does not have enough information."
330041 "chr13:20800004:G>A" "GJB6" "NM_006783:c.-15-2370C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs188790927" "This variant is a VUS because it does not have enough information." 5 1322 0.0038 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 6 5008 0.00119808
330042 "chr13:20800031:T>C" "GJB6" "NM_006783:c.-15-2397A>G" "FIVE_PRIME_INTRON" "Benign" "rs140603641" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 7 1322 0.0053 0 1006 0 0 694 0 0 1008 0 0 978 0 7 5008 0.00139776
330043 "chr13:20800039:C>T" "GJB6" "NM_006783:c.-15-2405G>A" "FIVE_PRIME_INTRON" "Benign" "rs9315400" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 395 1322 0.2988 335 1006 0.333 384 694 0.5533 437 1008 0.4335 505 978 0.5164 2056 5008 0.410543
330044 "chr13:20800044:A>T" "GJB6" "NM_006783:c.-15-2410T>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs550865224" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 0 978 0 1 5008 0.000199681
330045 "chr13:20800069:T>A" "GJB6" "NM_006783:c.-15-2435A>T" "FIVE_PRIME_INTRON" "Benign" "rs114704027" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 87 1322 0.0658 0 1006 0 7 694 0.0101 0 1008 0 0 978 0 94 5008 0.01877
330046 "chr13:20800069:TC>AA" "GJB6" "Unknown significance" "rs386768607" "This variant is a VUS because it does not have enough information."
330047 "chr13:20800070:C>A" "GJB6" "NM_006783:c.-15-2436G>T" "FIVE_PRIME_INTRON" "Benign" "rs115648530" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 87 1322 0.0658 0 1006 0 7 694 0.0101 0 1008 0 0 978 0 94 5008 0.01877
330048 "chr13:20800080:G>A" "GJB6" "NM_006783:c.-15-2446C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs558180037" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 1 5008 0.000199681
330049 "chr13:20800104:G>T" "GJB6" "NM_006783:c.-15-2470C>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs192862485" "This variant is a VUS because it does not have enough information." 0 1322 0 1 1006 0.001 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
330050 "chr13:20800109:G>A" "GJB6" "NM_006783:c.-15-2475C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs534861473" "This variant is a VUS because it does not have enough information."
330051 "chr13:20800133:G>A" "GJB6" "NM_006783:c.-15-2499C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs534326197" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
330052 "chr13:20800146:A>G" "GJB6" "NM_006783:c.-15-2512T>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs552878201" "This variant is a VUS because it does not have enough information."
330053 "chr13:20800151:G>T" "GJB6" "NM_006783:c.-15-2517C>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs555916174" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 2 5008 0.000399361
330054 "chr13:20800152:C>T" "GJB6" "NM_006783:c.-15-2518G>A" "FIVE_PRIME_INTRON" "Benign" "rs144551491" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 7 1322 0.0053 0 1006 0 0 694 0 0 1008 0 0 978 0 7 5008 0.00139776
330055 "chr13:20800211:C>A" "GJB6" "NM_006783:c.-15-2577G>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs372324795" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 0 1006 0 0 694 0 3 1008 0.003 0 978 0 4 5008 0.000798722
330056 "chr13:20800221:G>-" "GJB6" "NM_006783:c.-15-2587delC" "FIVE_PRIME_INTRON" "Benign" "rs549521629" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 9 1322 0.0068 0 1006 0 0 694 0 0 1008 0 0 978 0 9 5008 0.00179712
330057 "chr13:20800225:G>A" "GJB6" "NM_006783:c.-15-2591C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs185001798" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
330058 "chr13:20800226:C>T" "GJB6" "NM_006783:c.-15-2592G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs760386780" "This variant is a VUS because it does not have enough information."
330059 "chr13:20800236:G>T" "GJB6" "NM_006783:c.-15-2602C>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs575533929" "This variant is a VUS because it does not have enough information." 3 1322 0.0023 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 4 5008 0.000798722
330060 "chr13:20800257:G>T" "GJB6" "NM_006783:c.-15-2623C>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs545773892" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
330061 "chr13:20800278:C>T" "GJB6" "NM_006783:c.-15-2644G>A" "FIVE_PRIME_INTRON" "Benign" "rs117544692" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 0 1322 0 6 1006 0.006 0 694 0 4 1008 0.004 3 978 0.0031 13 5008 0.00259585
330062 "chr13:20800312:C>T" "GJB6" "NM_006783:c.-15-2678G>A" "FIVE_PRIME_INTRON" "Benign" "rs9972088" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 395 1322 0.2988 336 1006 0.334 387 694 0.5576 441 1008 0.4375 494 978 0.5051 2053 5008 0.409944
330063 "chr13:20800319:G>T" "GJB6" "NM_006783:c.-15-2685C>A" "FIVE_PRIME_INTRON" "Benign" "rs111268675" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 33 1322 0.025 0 1006 0 3 694 0.0043 0 1008 0 0 978 0 36 5008 0.0071885
330064 "chr13:20800327:C>T" "GJB6" "NM_006783:c.-15-2693G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs561467704" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 0 1006 0 0 694 0 1 1008 0.001 0 978 0 2 5008 0.000399361
330065 "chr13:20800367:G>A" "GJB6" "NM_006783:c.-15-2733C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs528907546" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 0 1008 0 3 978 0.0031 3 5008 0.000599042
330066 "chr13:20800371:A>G" "GJB6" "NM_006783:c.-15-2737T>C" "FIVE_PRIME_INTRON" "Benign" "rs187756464" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 7 1322 0.0053 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 8 5008 0.00159744
330067 "chr13:20800383:G>A" "GJB6" "NM_006783:c.-15-2749C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs569349832" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 0 1006 0 1 694 0.0014 0 1008 0 2 978 0.002 4 5008 0.000798722
330068 "chr13:20800426:C>T" "GJB6" "NM_006783:c.-15-2792G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs199567735" "This variant is a VUS because it does not have enough information."
330069 "chr13:20800427:T>C" "GJB6" "NM_006783:c.-15-2793A>G" "FIVE_PRIME_INTRON" "Unknown significance" "rs200155480" "This variant is a VUS because it does not have enough information."
330070 "chr13:20800429:A>-" "GJB6" "NM_006783:c.-15-2795delT" "FIVE_PRIME_INTRON" "Benign" "rs10707264" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 670 1322 0.5068 491 1006 0.4881 458 694 0.6599 675 1008 0.6696 579 978 0.592 2873 5008 0.573682
330071 "chr13:20800429:AA>-" "GJB6" "NM_006783:c.-15-2795_-15-2792delTT" "FIVE_PRIME_INTRON" "Unknown significance" "rs60464652" "This variant is a VUS because it does not have enough information."
330072 "chr13:20800429:A>T" "GJB6" "NM_006783:c.-15-2795T>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs201465950" "This variant is a VUS because it does not have enough information."
330073 "chr13:20800445:G>-" "GJB6" "NM_006783:c.-15-2811delC" "FIVE_PRIME_INTRON" "Unknown significance" "rs371020230" "This variant is a VUS because it does not have enough information."
330074 "chr13:20800445:G>A" "GJB6" "NM_006783:c.-15-2811C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs372682881" "This variant is a VUS because it does not have enough information."
330075 "chr13:20800493:A>G" "GJB6" "NM_006783:c.-15-2859T>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs533708479" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 1 978 0.001 2 5008 0.000399361
330076 "chr13:20800526:G>C" "GJB6" "NM_006783:c.-15-2892C>G" "FIVE_PRIME_INTRON" "Unknown significance" "rs551771307" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 0 1008 0 4 978 0.0041 4 5008 0.000798722
330077 "chr13:20800552:G>C" "GJB6" "NM_006783:c.-15-2918C>G" "FIVE_PRIME_INTRON" "Unknown significance" "rs368718397" "This variant is a VUS because it does not have enough information."
330078 "chr13:20800603:C>T" "GJB6" "NM_006783:c.-15-2969G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs567138100" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 0 1008 0 1 978 0.001 1 5008 0.000199681
330079 "chr13:20800640:G>A" "GJB6" "NM_006783:c.-15-3006C>T" "FIVE_PRIME_INTRON" "Benign" "rs79510176" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 58 1322 0.0439 97 1006 0.0964 43 694 0.062 243 1008 0.2411 69 978 0.0706 510 5008 0.101837
330080 "chr13:20800654:T>A" "GJB6" "NM_006783:c.-15-3020A>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs549352754" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 0 1008 0 2 978 0.002 2 5008 0.000399361
330081 "chr13:20800657:A>G" "GJB6" "NM_006783:c.-15-3023T>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs575667730" "This variant is a VUS because it does not have enough information." 0 1322 0 2 1006 0.002 0 694 0 0 1008 0 0 978 0 2 5008 0.000399361
330082 "chr13:20800659:G>T" "GJB6" "NM_006783:c.-15-3025C>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs372652590" "This variant is a VUS because it does not have enough information." 2 1322 0.0015 0 1006 0 0 694 0 0 1008 0 0 978 0 2 5008 0.000399361
330083 "chr13:20800691:T>C" "GJB6" "NM_006783:c.-16+3028A>G" "FIVE_PRIME_INTRON" "Unknown significance" "rs546521791" "This variant is a VUS because it does not have enough information."
330084 "chr13:20800693:T>A" "GJB6" "NM_006783:c.-16+3026A>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs557164290" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
330085 "chr13:20800748:T>C" "GJB6" "NM_006783:c.-16+2971A>G" "FIVE_PRIME_INTRON" "Unknown significance" "rs766424714" "This variant is a VUS because it does not have enough information."
330086 "chr13:20800785:C>T" "GJB6" "NM_006783:c.-16+2934G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs556429670" "This variant is a VUS because it does not have enough information."
330087 "chr13:20800793:G>T" "GJB6" "NM_006783:c.-16+2926C>A" "FIVE_PRIME_INTRON" "Benign" "rs115692532" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 32 1322 0.0242 0 1006 0 3 694 0.0043 0 1008 0 0 978 0 35 5008 0.00698882
330088 "chr13:20800810:G>A" "GJB6" "NM_006783:c.-16+2909C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs539755352" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 2 5008 0.000399361
330089 "chr13:20800819:T>A" "GJB6" "NM_006783:c.-16+2900A>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs751696891" "This variant is a VUS because it does not have enough information."
330090 "chr13:20800840:C>G" "GJB6" "NM_006783:c.-16+2879G>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs557782851" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
330091 "chr13:20800846:A>T" "GJB6" "NM_006783:c.-16+2873T>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs755190891" "This variant is a VUS because it does not have enough information."
330092 "chr13:20800849:T>C" "GJB6" "NM_006783:c.-16+2870A>G" "FIVE_PRIME_INTRON" "Unknown significance" "rs368466966" "This variant is a VUS because it does not have enough information." 2 1322 0.0015 0 1006 0 0 694 0 0 1008 0 0 978 0 2 5008 0.000399361
330093 "chr13:20800852:G>A" "GJB6" "NM_006783:c.-16+2867C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs539843953" "This variant is a VUS because it does not have enough information." 0 1322 0 1 1006 0.001 1 694 0.0014 0 1008 0 0 978 0 2 5008 0.000399361
330094 "chr13:20800861:C>A" "GJB6" "NM_006783:c.-16+2858G>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs561339047" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
330095 "chr13:20800896:A>C" "GJB6" "NM_006783:c.-16+2823T>G" "FIVE_PRIME_INTRON" "Benign" "rs191465323" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 0 1322 0 0 1006 0 0 694 0 29 1008 0.0288 4 978 0.0041 33 5008 0.00658946
330096 "chr13:20800943:C>G" "GJB6" "NM_006783:c.-16+2776G>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs375875782" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 0 978 0 1 5008 0.000199681
330097 "chr13:20800961:T>C" "GJB6" "NM_006783:c.-16+2758A>G" "FIVE_PRIME_INTRON" "Unknown significance" "rs563132518" "This variant is a VUS because it does not have enough information." 2 1322 0.0015 0 1006 0 0 694 0 0 1008 0 0 978 0 2 5008 0.000399361
330098 "chr13:20801005:A>C" "GJB6" "NM_006783:c.-16+2714T>G" "FIVE_PRIME_INTRON" "Benign" "rs74320539" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 17 1322 0.0129 63 1006 0.0626 28 694 0.0403 2 1008 0.002 20 978 0.0204 130 5008 0.0259585
330099 "chr13:20801016:C>T" "GJB6" "NM_006783:c.-16+2703G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs141365504" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 3 1008 0.003 0 978 0 3 5008 0.000599042
330100 "chr13:20801044:C>A" "GJB6" "NM_006783:c.-16+2675G>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs145040235" "This variant is a VUS because it does not have enough information." 4 1322 0.003 0 1006 0 0 694 0 0 1008 0 0 978 0 4 5008 0.000798722
330101 "chr13:20801044:C>T" "GJB6" "NM_006783:c.-16+2675G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs145040235" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 0 1006 0 0 694 0 1 1008 0.001 0 978 0 2 5008 0.000399361
330102 "chr13:20801083:C>G" "GJB6" "NM_006783:c.-16+2636G>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs183621675" "This variant is a VUS because it does not have enough information." 0 1322 0 1 1006 0.001 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
330103 "chr13:20801084:G>A" "GJB6" "NM_006783:c.-16+2635C>T" "FIVE_PRIME_INTRON" "Benign" "rs945370" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 149 1322 0.1127 333 1006 0.331 368 694 0.5303 440 1008 0.4365 493 978 0.5041 1783 5008 0.35603
330104 "chr13:20801103:C>T" "GJB6" "NM_006783:c.-16+2616G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs747393508" "This variant is a VUS because it does not have enough information."
330105 "chr13:20801139:G>T" "GJB6" "NM_006783:c.-16+2580C>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs188284518" "This variant is a VUS because it does not have enough information." 0 1322 0 2 1006 0.002 2 694 0.0029 0 1008 0 0 978 0 4 5008 0.000798722
330106 "chr13:20801140:G>A" "GJB6" "NM_006783:c.-16+2579C>T" "FIVE_PRIME_INTRON" "Benign" "rs138876786" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 56 1322 0.0424 0 1006 0 3 694 0.0043 0 1008 0 0 978 0 59 5008 0.0117812
330107 "chr13:20801143:A>G" "GJB6" "NM_006783:c.-16+2576T>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs571680963" "This variant is a VUS because it does not have enough information." 2 1322 0.0015 0 1006 0 0 694 0 0 1008 0 0 978 0 2 5008 0.000399361
330108 "chr13:20801145:G>A" "GJB6" "NM_006783:c.-16+2574C>T" "FIVE_PRIME_INTRON" "Benign" "rs148918056" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 54 1322 0.0408 0 1006 0 3 694 0.0043 0 1008 0 0 978 0 57 5008 0.0113818
330109 "chr13:20801168:A>G" "GJB6" "NM_006783:c.-16+2551T>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs768362338" "This variant is a VUS because it does not have enough information."
330110 "chr13:20801200:C>A" "GJB6" "NM_006783:c.-16+2519G>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs776366828" "This variant is a VUS because it does not have enough information."
330111 "chr13:20801200:C>T" "GJB6" "NM_006783:c.-16+2519G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs776366828" "This variant is a VUS because it does not have enough information."
330112 "chr13:20801202:C>G" "GJB6" "NM_006783:c.-16+2517G>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs529815201" "This variant is a VUS because it does not have enough information."
330113 "chr13:20801203:C>G" "GJB6" "NM_006783:c.-16+2516G>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs557482166" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 0 1008 0 2 978 0.002 2 5008 0.000399361
330114 "chr13:20801205:C>T" "GJB6" "NM_006783:c.-16+2514G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs143657537" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 0 1006 0 0 694 0 1 1008 0.001 0 978 0 2 5008 0.000399361
330115 "chr13:20801212:C>T" "GJB6" "NM_006783:c.-16+2507G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs765048986" "This variant is a VUS because it does not have enough information."
330116 "chr13:20801223:G>A" "GJB6" "NM_006783:c.-16+2496C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs533834795" "This variant is a VUS because it does not have enough information." 2 1322 0.0015 0 1006 0 0 694 0 0 1008 0 0 978 0 2 5008 0.000399361
330117 "chr13:20801272:->G" "GJB6" "NM_006783:c.-16+2447_-16+2448insC" "FIVE_PRIME_INTRON" "Unknown significance" "rs201456892" "This variant is a VUS because it does not have enough information."
330118 "chr13:20801273:T>-" "GJB6" "NM_006783:c.-16+2446delA" "FIVE_PRIME_INTRON" "Unknown significance" "rs369948551" "This variant is a VUS because it does not have enough information."
330119 "chr13:20801273:T>G" "GJB6" "NM_006783:c.-16+2446A>C" "FIVE_PRIME_INTRON" "Benign" "rs945369" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 337 1322 0.2549 324 1006 0.3221 369 694 0.5317 424 1008 0.4206 482 978 0.4928 1936 5008 0.386581
330120 "chr13:20801282:T>C" "GJB6" "NM_006783:c.-16+2437A>G" "FIVE_PRIME_INTRON" "Unknown significance" "rs181576754" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 0 1006 0 0 694 0 1 1008 0.001 0 978 0 2 5008 0.000399361
330121 "chr13:20801293:G>A" "GJB6" "NM_006783:c.-16+2426C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs544160863" "This variant is a VUS because it does not have enough information." 3 1322 0.0023 0 1006 0 0 694 0 0 1008 0 0 978 0 3 5008 0.000599042
330122 "chr13:20801302:T>C" "GJB6" "NM_006783:c.-16+2417A>G" "FIVE_PRIME_INTRON" "Benign" "rs148099238" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 0 1322 0 20 1006 0.0199 3 694 0.0043 0 1008 0 2 978 0.002 25 5008 0.00499201
330123 "chr13:20801351:C>A" "GJB6" "NM_006783:c.-16+2368G>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs184691122" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 2 694 0.0029 0 1008 0 0 978 0 2 5008 0.000399361
330124 "chr13:20801356:C>T" "GJB6" "NM_006783:c.-16+2363G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs766371752" "This variant is a VUS because it does not have enough information."
330125 "chr13:20801357:G>A" "GJB6" "NM_006783:c.-16+2362C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs545284379" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 0 1008 0 1 978 0.001 1 5008 0.000199681
330126 "chr13:20801358:G>C" "GJB6" "NM_006783:c.-16+2361C>G" "FIVE_PRIME_INTRON" "Benign" "rs945368" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 726 1322 0.5492 497 1006 0.494 474 694 0.683 685 1008 0.6796 582 978 0.5951 2964 5008 0.591853
330127 "chr13:20801382:G>A" "GJB6" "NM_006783:c.-16+2337C>T" "FIVE_PRIME_INTRON" "Benign" "rs190317219" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 0 1322 0 5 1006 0.005 0 694 0 0 1008 0 0 978 0 5 5008 0.000998403
330128 "chr13:20801382:G>T" "GJB6" "NM_006783:c.-16+2337C>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs190317219" "This variant is a VUS because it does not have enough information."
330129 "chr13:20801383:C>T" "GJB6" "NM_006783:c.-16+2336G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs549674500" "This variant is a VUS because it does not have enough information." 0 1322 0 1 1006 0.001 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
330130 "chr13:20801393:C>G" "GJB6" "NM_006783:c.-16+2326G>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs561297754" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 0 978 0 1 5008 0.000199681
330131 "chr13:20801417:C>T" "GJB6" "NM_006783:c.-16+2302G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs141336984" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 0 978 0 1 5008 0.000199681
330132 "chr13:20801418:G>A" "GJB6" "NM_006783:c.-16+2301C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs756335094" "This variant is a VUS because it does not have enough information."
330133 "chr13:20801419:C>T" "GJB6" "NM_006783:c.-16+2300G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs147439382" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 2 1008 0.002 1 978 0.001 3 5008 0.000599042
330134 "chr13:20801425:T>A" "GJB6" "NM_006783:c.-16+2294A>T" "FIVE_PRIME_INTRON" "Benign" "rs945367" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 725 1322 0.5484 495 1006 0.492 474 694 0.683 685 1008 0.6796 582 978 0.5951 2961 5008 0.591254
330135 "chr13:20801427:G>A" "GJB6" "NM_006783:c.-16+2292C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs532596533" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
330136 "chr13:20801431:C>T" "GJB6" "NM_006783:c.-16+2288G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs759954371" "This variant is a VUS because it does not have enough information."
330137 "chr13:20801432:C>T" "GJB6" "NM_006783:c.-16+2287G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs551209655" "This variant is a VUS because it does not have enough information." 2 1322 0.0015 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 3 5008 0.000599042
330138 "chr13:20801433:G>A" "GJB6" "NM_006783:c.-16+2286C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs566310937" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
330139 "chr13:20801474:A>G" "GJB6" "NM_006783:c.-16+2245T>C" "FIVE_PRIME_INTRON" "Benign" "rs77041216" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 57 1322 0.0431 94 1006 0.0934 42 694 0.0605 243 1008 0.2411 68 978 0.0695 504 5008 0.100639
330140 "chr13:20801491:C>A" "GJB6" "NM_006783:c.-16+2228G>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs550167590" "This variant is a VUS because it does not have enough information."
330141 "chr13:20801492:G>A" "GJB6" "NM_006783:c.-16+2227C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs555257900" "This variant is a VUS because it does not have enough information." 2 1322 0.0015 0 1006 0 0 694 0 0 1008 0 0 978 0 2 5008 0.000399361
330142 "chr13:20801520:C>T" "GJB6" "NM_006783:c.-16+2199G>A" "FIVE_PRIME_INTRON" "Benign" "rs138090235" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 26 1322 0.0197 6 1006 0.006 10 694 0.0144 0 1008 0 0 978 0 42 5008 0.00838658
330143 "chr13:20801544:C>T" "GJB6" "NM_006783:c.-16+2175G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs779573105" "This variant is a VUS because it does not have enough information."
330144 "chr13:20801545:G>A" "GJB6" "NM_006783:c.-16+2174C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs143649099" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 0 978 0 1 5008 0.000199681
330145 "chr13:20801599:G>A" "GJB6" "NM_006783:c.-16+2120C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs746466818" "This variant is a VUS because it does not have enough information."
330146 "chr13:20801600:C>T" "GJB6" "NM_006783:c.-16+2119G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs556085586" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 0 1008 0 1 978 0.001 1 5008 0.000199681
330147 "chr13:20801640:C>A" "GJB6" "NM_006783:c.-16+2079G>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs775190195" "This variant is a VUS because it does not have enough information."
330148 "chr13:20801651:C>T" "GJB6" "NM_006783:c.-16+2068G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs181514479" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 0 978 0 1 5008 0.000199681
330149 "chr13:20801654:C>T" "GJB6" "NM_006783:c.-16+2065G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs147156311" "This variant is a VUS because it does not have enough information." 3 1322 0.0023 0 1006 0 0 694 0 0 1008 0 0 978 0 3 5008 0.000599042
330150 "chr13:20801657:A>G" "GJB6" "NM_006783:c.-16+2062T>C" "FIVE_PRIME_INTRON" "Benign" "rs112564281" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 33 1322 0.025 0 1006 0 3 694 0.0043 0 1008 0 0 978 0 36 5008 0.0071885
330151 "chr13:20801658:C>T" "GJB6" "NM_006783:c.-16+2061G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs553155236" "This variant is a VUS because it does not have enough information."
330152 "chr13:20801664:C>T" "GJB6" "NM_006783:c.-16+2055G>A" "FIVE_PRIME_INTRON" "Benign" "rs61951972" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 4 1322 0.003 111 1006 0.1103 25 694 0.036 12 1008 0.0119 97 978 0.0992 249 5008 0.0497204
330153 "chr13:20801687:G>C" "GJB6" "NM_006783:c.-16+2032C>G" "FIVE_PRIME_INTRON" "Benign" "rs112172685" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 40 1322 0.0303 0 1006 0 4 694 0.0058 0 1008 0 0 978 0 44 5008 0.00878594
330154 "chr13:20801728:G>C" "GJB6" "NM_006783:c.-16+1991C>G" "FIVE_PRIME_INTRON" "Unknown significance" "rs373898552" "This variant is a VUS because it does not have enough information."
330155 "chr13:20801793:T>C" "GJB6" "NM_006783:c.-16+1926A>G" "FIVE_PRIME_INTRON" "Benign" "rs112830594" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 40 1322 0.0303 0 1006 0 4 694 0.0058 0 1008 0 0 978 0 44 5008 0.00878594
330156 "chr13:20801795:C>T" "GJB6" "NM_006783:c.-16+1924G>A" "FIVE_PRIME_INTRON" "Benign" "rs148412182" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 0 1322 0 0 1006 0 1 694 0.0014 6 1008 0.006 0 978 0 7 5008 0.00139776
330157 "chr13:20801796:G>A" "GJB6" "NM_006783:c.-16+1923C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs543460299" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 0 1008 0 1 978 0.001 1 5008 0.000199681
330158 "chr13:20801797:G>A" "GJB6" "NM_006783:c.-16+1922C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs186282017" "This variant is a VUS because it does not have enough information." 6 1322 0.0045 0 1006 0 0 694 0 0 1008 0 0 978 0 6 5008 0.00119808
330159 "chr13:20801810:C>T" "GJB6" "NM_006783:c.-16+1909G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs369732091" "This variant is a VUS because it does not have enough information." 4 1322 0.003 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 5 5008 0.000998403
330160 "chr13:20801825:A>G" "GJB6" "NM_006783:c.-16+1894T>C" "FIVE_PRIME_INTRON" "Benign" "rs116511366" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 46 1322 0.0348 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 47 5008 0.00938498
330161 "chr13:20801844:A>G" "GJB6" "NM_006783:c.-16+1875T>C" "FIVE_PRIME_INTRON" "Benign" "rs945366" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 726 1322 0.5492 480 1006 0.4771 472 694 0.6801 687 1008 0.6815 585 978 0.5982 2950 5008 0.589058
330162 "chr13:20801849:G>A" "GJB6" "NM_006783:c.-16+1870C>T" "FIVE_PRIME_INTRON" "Benign" "rs111688478" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 40 1322 0.0303 0 1006 0 4 694 0.0058 0 1008 0 0 978 0 44 5008 0.00878594
330163 "chr13:20801858:G>A" "GJB6" "NM_006783:c.-16+1861C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs774296432" "This variant is a VUS because it does not have enough information."
330164 "chr13:20801873:T>G" "GJB6" "NM_006783:c.-16+1846A>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs370392062" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 1 978 0.001 2 5008 0.000399361
330165 "chr13:20801897:C>T" "GJB6" "NM_006783:c.-16+1822G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs144483090" "This variant is a VUS because it does not have enough information."
330166 "chr13:20801915:A>G" "GJB6" "NM_006783:c.-16+1804T>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs759574658" "This variant is a VUS because it does not have enough information."
330167 "chr13:20801985:G>T" "GJB6" "NM_006783:c.-16+1734C>A" "FIVE_PRIME_INTRON" "Benign" "rs7330803" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 1274 1322 0.9637 1006 1006 1 693 694 0.9986 1008 1008 1 978 978 1 4959 5008 0.990216
330168 "chr13:20802005:C>T" "GJB6" "NM_006783:c.-16+1714G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs557444650" "This variant is a VUS because it does not have enough information."
330169 "chr13:20802052:C>T" "GJB6" "NM_006783:c.-16+1667G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs190697286" "This variant is a VUS because it does not have enough information." 5 1322 0.0038 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 6 5008 0.00119808
330170 "chr13:20802067:T>G" "GJB6" "NM_006783:c.-16+1652A>C" "FIVE_PRIME_INTRON" "Benign" "rs116026305" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 28 1322 0.0212 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 29 5008 0.00579073
330171 "chr13:20802078:C>A" "GJB6" "NM_006783:c.-16+1641G>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs760943268" "This variant is a VUS because it does not have enough information."
330172 "chr13:20802087:T>G" "GJB6" "NM_006783:c.-16+1632A>C" "FIVE_PRIME_INTRON" "Benign" "rs79379034" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 61 1322 0.0461 96 1006 0.0954 42 694 0.0605 242 1008 0.2401 68 978 0.0695 509 5008 0.101637
330173 "chr13:20802124:T>G" "GJB6" "NM_006783:c.-16+1595A>C" "FIVE_PRIME_INTRON" "Benign" "rs115769900" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 125 1322 0.0946 0 1006 0 8 694 0.0115 0 1008 0 0 978 0 133 5008 0.0265575
330174 "chr13:20802149:C>-" "GJB6" "NM_006783:c.-16+1570delG" "FIVE_PRIME_INTRON" "Benign" "rs35677174" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 711 1322 0.5378 454 1006 0.4513 447 694 0.6441 443 1008 0.4395 550 978 0.5624 2605 5008 0.520168
330175 "chr13:20802154:C>T" "GJB6" "NM_006783:c.-16+1565G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs553917725" "This variant is a VUS because it does not have enough information." 0 1322 0 1 1006 0.001 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
330176 "chr13:20802209:C>T" "GJB6" "NM_006783:c.-16+1510G>A" "FIVE_PRIME_INTRON" "Benign" "rs146642523" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 32 1322 0.0242 0 1006 0 3 694 0.0043 0 1008 0 0 978 0 35 5008 0.00698882
330177 "chr13:20802254:T>C" "GJB6" "NM_006783:c.-16+1465A>G" "FIVE_PRIME_INTRON" "Unknown significance" "rs757748090" "This variant is a VUS because it does not have enough information."
330178 "chr13:20802386:C>G" "GJB6" "NM_006783:c.-16+1333G>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs543246926" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 0 978 0 1 5008 0.000199681
330179 "chr13:20802404:C>A" "GJB6" "NM_006783:c.-16+1315G>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs78671031" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 0 978 0 1 5008 0.000199681
330180 "chr13:20802442:C>T" "GJB6" "NM_006783:c.-16+1277G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs576704244" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 0 1008 0 1 978 0.001 1 5008 0.000199681
330181 "chr13:20802476:C>A" "GJB6" "NM_006783:c.-16+1243G>T" "FIVE_PRIME_INTRON" "Benign" "rs77903198" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 58 1322 0.0439 92 1006 0.0915 41 694 0.0591 237 1008 0.2351 62 978 0.0634 490 5008 0.0978435
330182 "chr13:20802478:C>A" "GJB6" "NM_006783:c.-16+1241G>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs555347767" "This variant is a VUS because it does not have enough information."
330183 "chr13:20802478:C>G" "GJB6" "NM_006783:c.-16+1241G>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs555347767" "This variant is a VUS because it does not have enough information."
330184 "chr13:20802502:C>T" "GJB6" "NM_006783:c.-16+1217G>A" "FIVE_PRIME_INTRON" "Benign" "rs114700054" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 28 1322 0.0212 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 29 5008 0.00579073
330185 "chr13:20802509:T>C" "GJB6" "NM_006783:c.-16+1210A>G" "FIVE_PRIME_INTRON" "Unknown significance" "rs532555336" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 0 1008 0 1 978 0.001 1 5008 0.000199681
330186 "chr13:20802534:G>C" "GJB6" "NM_006783:c.-16+1185C>G" "FIVE_PRIME_INTRON" "Unknown significance" "rs540999772" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
330187 "chr13:20802572:T>C" "GJB6" "NM_006783:c.-16+1147A>G" "FIVE_PRIME_INTRON" "Unknown significance" "rs112139984" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
330188 "chr13:20802577:A>G" "GJB6" "NM_006783:c.-16+1142T>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs113602962" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
330189 "chr13:20802580:T>C" "GJB6" "NM_006783:c.-16+1139A>G" "FIVE_PRIME_INTRON" "Unknown significance" "rs750922510" "This variant is a VUS because it does not have enough information."
330190 "chr13:20802592:TTTC>-" "GJB6" "NM_006783:c.-16+1127_-16+1132delGAAA" "FIVE_PRIME_INTRON" "Unknown significance" "rs146259484" "This variant is a VUS because it does not have enough information."
330191 "chr13:20802594:T>G" "GJB6" "NM_006783:c.-16+1125A>C" "FIVE_PRIME_INTRON" "Benign" "rs12874593" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 320 1322 0.2421 340 1006 0.338 165 694 0.2378 42 1008 0.0417 94 978 0.0961 961 5008 0.191893
330192 "chr13:20802594:TC>GT" "GJB6" "Unknown significance" "rs34984568" "This variant is a VUS because it does not have enough information."
330193 "chr13:20802595:C>T" "GJB6" "NM_006783:c.-16+1124G>A" "FIVE_PRIME_INTRON" "Benign" "rs12870260" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 320 1322 0.2421 340 1006 0.338 165 694 0.2378 42 1008 0.0417 94 978 0.0961 961 5008 0.191893
330194 "chr13:20802610:T>G" "GJB6" "NM_006783:c.-16+1109A>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs531534453" "This variant is a VUS because it does not have enough information." 2 1322 0.0015 0 1006 0 0 694 0 0 1008 0 0 978 0 2 5008 0.000399361
330195 "chr13:20802610:TTG>GTT" "GJB6" "Unknown significance" "rs796136831" "This variant is a VUS because it does not have enough information."
330196 "chr13:20802613:->T" "GJB6" "NM_006783:c.-16+1106_-16+1107insA" "FIVE_PRIME_INTRON" "Unknown significance" "rs200751103" "This variant is a VUS because it does not have enough information."
330197 "chr13:20802619:G>T" "GJB6" "NM_006783:c.-16+1100C>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs12869291" "This variant is a VUS because it does not have enough information."
330198 "chr13:20802620:->T" "GJB6" "NM_006783:c.-16+1099_-16+1100insA" "FIVE_PRIME_INTRON" "Unknown significance" "rs71306168" "This variant is a VUS because it does not have enough information."
330199 "chr13:20802623:TTG>-" "GJB6" "NM_006783:c.-16+1096_-16+1100delCAA" "FIVE_PRIME_INTRON" "Unknown significance" "rs774187492" "This variant is a VUS because it does not have enough information."
330200 "chr13:20802624:TG>-" "GJB6" "NM_006783:c.-16+1095_-16+1098delCA" "FIVE_PRIME_INTRON" "Unknown significance" "rs66622203" "This variant is a VUS because it does not have enough information."
330201 "chr13:20802624:T>G" "GJB6" "NM_006783:c.-16+1095A>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs550031780" "This variant is a VUS because it does not have enough information." 6 1322 0.0045 0 1006 0 0 694 0 0 1008 0 0 978 0 6 5008 0.00119808
330202 "chr13:20802625:G>-" "GJB6" "NM_006783:c.-16+1094delC" "FIVE_PRIME_INTRON" "Unknown significance" "rs75269971" "This variant is a VUS because it does not have enough information."
330203 "chr13:20802625:G>T" "GJB6" "NM_006783:c.-16+1094C>A" "FIVE_PRIME_INTRON" "Benign" "rs7336897" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 1033 1322 0.7814 810 1006 0.8052 622 694 0.8963 751 1008 0.745 683 978 0.6984 3899 5008 0.778554
330204 "chr13:20802626:T>G" "GJB6" "NM_006783:c.-16+1093A>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs538657457" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 0 1008 0 1 978 0.001 1 5008 0.000199681
330205 "chr13:20802629:T>G" "GJB6" "NM_006783:c.-16+1090A>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs200204852" "This variant is a VUS because it does not have enough information."
330206 "chr13:20802631:T>G" "GJB6" "NM_006783:c.-16+1088A>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs201197097" "This variant is a VUS because it does not have enough information."
330207 "chr13:20802632:G>T" "GJB6" "NM_006783:c.-16+1087C>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs12869303" "This variant is a VUS because it does not have enough information."
330208 "chr13:20802633:->T" "GJB6" "NM_006783:c.-16+1086_-16+1087insA" "FIVE_PRIME_INTRON" "Unknown significance" "rs200585465" "This variant is a VUS because it does not have enough information."
330209 "chr13:20802633:->TT" "GJB6" "NM_006783:c.-16+1086_-16+1087insAA" "FIVE_PRIME_INTRON" "Unknown significance" "rs200585465" "This variant is a VUS because it does not have enough information."
330210 "chr13:20802633:T>G" "GJB6" "NM_006783:c.-16+1086A>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs12874714" "This variant is a VUS because it does not have enough information."
330211 "chr13:20802645:T>C" "GJB6" "NM_006783:c.-16+1074A>G" "FIVE_PRIME_INTRON" "Benign" "rs573507443" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 0 1322 0 7 1006 0.007 1 694 0.0014 0 1008 0 5 978 0.0051 13 5008 0.00259585
330212 "chr13:20802646:G>A" "GJB6" "NM_006783:c.-16+1073C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs565789425" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 0 1008 0 2 978 0.002 2 5008 0.000399361
330213 "chr13:20802653:A>C" "GJB6" "NM_006783:c.-16+1066T>G" "FIVE_PRIME_INTRON" "Unknown significance" "rs540539456" "This variant is a VUS because it does not have enough information."
330214 "chr13:20802653:A>T" "GJB6" "NM_006783:c.-16+1066T>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs540539456" "This variant is a VUS because it does not have enough information."
330215 "chr13:20802654:G>C" "GJB6" "NM_006783:c.-16+1065C>G" "FIVE_PRIME_INTRON" "Unknown significance" "rs544017524" "This variant is a VUS because it does not have enough information."
330216 "chr13:20802661:T>C" "GJB6" "NM_006783:c.-16+1058A>G" "FIVE_PRIME_INTRON" "Benign" "rs536342102" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 1 1322 0.0008 2 1006 0.002 0 694 0 6 1008 0.006 2 978 0.002 11 5008 0.00219649
330217 "chr13:20802667:A>G" "GJB6" "NM_006783:c.-16+1052T>C" "FIVE_PRIME_INTRON" "Benign" "rs181863399" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 4 1322 0.003 15 1006 0.0149 15 694 0.0216 6 1008 0.006 5 978 0.0051 45 5008 0.00898562
330218 "chr13:20802676:->ACCGTGGC" "GJB6" "NM_006783:c.-16+1043_-16+1044insGCCACGGT" "FIVE_PRIME_INTRON" "Unknown significance" "rs67390479" "This variant is a VUS because it does not have enough information."
330219 "chr13:20802676:A>G" "GJB6" "NM_006783:c.-16+1043T>C" "FIVE_PRIME_INTRON" "Benign" "rs7339008" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 226 1322 0.171 357 1006 0.3549 335 694 0.4827 515 1008 0.5109 499 978 0.5102 1932 5008 0.385783
330220 "chr13:20802677:->GCAGTGGCG" "GJB6" "NM_006783:c.-16+1042_-16+1043insCGCCACTGC" "FIVE_PRIME_INTRON" "Unknown significance" "rs67390479" "This variant is a VUS because it does not have enough information."
330221 "chr13:20802676:ACC>GCA" "GJB6" "Unknown significance" "rs386768609" "This variant is a VUS because it does not have enough information."
330222 "chr13:20802678:C>A" "GJB6" "NM_006783:c.-16+1041G>T" "FIVE_PRIME_INTRON" "Benign" "rs7338303" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 176 1322 0.1331 356 1006 0.3539 333 694 0.4798 507 1008 0.503 499 978 0.5102 1871 5008 0.373602
330223 "chr13:20802679:G>A" "GJB6" "NM_006783:c.-16+1040C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs559225924" "This variant is a VUS because it does not have enough information." 4 1322 0.003 0 1006 0 0 694 0 0 1008 0 0 978 0 4 5008 0.000798722
330224 "chr13:20802683:C>T" "GJB6" "NM_006783:c.-16+1036G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs755428997" "This variant is a VUS because it does not have enough information."
330225 "chr13:20802684:A>G" "GJB6" "NM_006783:c.-16+1035T>C" "FIVE_PRIME_INTRON" "Benign" "rs7339016" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 239 1322 0.1808 358 1006 0.3559 334 694 0.4813 509 1008 0.505 502 978 0.5133 1942 5008 0.38778
330226 "chr13:20802686:G>C" "GJB6" "NM_006783:c.-16+1033C>G" "FIVE_PRIME_INTRON" "Unknown significance" "rs530509204" "This variant is a VUS because it does not have enough information." 0 1322 0 1 1006 0.001 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
330227 "chr13:20802686:G>T" "GJB6" "NM_006783:c.-16+1033C>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs530509204" "This variant is a VUS because it does not have enough information."
330228 "chr13:20802691:C>A" "GJB6" "NM_006783:c.-16+1028G>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs368194669" "This variant is a VUS because it does not have enough information."
330229 "chr13:20802691:C>G" "GJB6" "NM_006783:c.-16+1028G>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs368194669" "This variant is a VUS because it does not have enough information."
330230 "chr13:20802692:G>T" "GJB6" "NM_006783:c.-16+1027C>A" "FIVE_PRIME_INTRON" "Benign" "rs562847302" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 6 978 0.0061 7 5008 0.00139776
330231 "chr13:20802694:C>T" "GJB6" "NM_006783:c.-16+1025G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs185229441" "This variant is a VUS because it does not have enough information." 2 1322 0.0015 1 1006 0.001 2 694 0.0029 0 1008 0 0 978 0 5 5008 0.000998403
330232 "chr13:20802699:T>C" "GJB6" "NM_006783:c.-16+1020A>G" "FIVE_PRIME_INTRON" "Benign" "rs542289939" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 0 1322 0 0 1006 0 0 694 0 0 1008 0 6 978 0.0061 6 5008 0.00119808
330233 "chr13:20802700:G>T" "GJB6" "NM_006783:c.-16+1019C>A" "FIVE_PRIME_INTRON" "Benign" "rs560958240" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 0 1322 0 0 1006 0 0 694 0 0 1008 0 6 978 0.0061 6 5008 0.00119808
330234 "chr13:20802701:C>T" "GJB6" "NM_006783:c.-16+1018G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs551784428" "This variant is a VUS because it does not have enough information."
330235 "chr13:20802703:A>G" "GJB6" "NM_006783:c.-16+1016T>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs770412026" "This variant is a VUS because it does not have enough information."
330236 "chr13:20802713:C>T" "GJB6" "NM_006783:c.-16+1006G>A" "FIVE_PRIME_INTRON" "Benign" "rs59044955" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 111 1322 0.084 2 1006 0.002 11 694 0.0159 0 1008 0 0 978 0 124 5008 0.0247604
330237 "chr13:20802715:C>T" "GJB6" "NM_006783:c.-16+1004G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs773232499" "This variant is a VUS because it does not have enough information."
330238 "chr13:20802716:G>A" "GJB6" "NM_006783:c.-16+1003C>T" "FIVE_PRIME_INTRON" "Benign" "rs549679885" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 0 1322 0 0 1006 0 0 694 0 0 1008 0 6 978 0.0061 6 5008 0.00119808
330239 "chr13:20802724:G>A" "GJB6" "NM_006783:c.-16+995C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs565185902" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 2 5008 0.000399361
330240 "chr13:20802727:G>A" "GJB6" "NM_006783:c.-16+992C>T" "FIVE_PRIME_INTRON" "Benign" "rs7337092" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 902 1322 0.6823 451 1006 0.4483 317 694 0.4568 452 1008 0.4484 380 978 0.3885 2502 5008 0.499601
330241 "chr13:20802734:C>G" "GJB6" "NM_006783:c.-16+985G>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs376714010" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 2 1008 0.002 0 978 0 2 5008 0.000399361
330242 "chr13:20802734:C>T" "GJB6" "NM_006783:c.-16+985G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs376714010" "This variant is a VUS because it does not have enough information."
330243 "chr13:20802736:C>T" "GJB6" "NM_006783:c.-16+983G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs565675415" "This variant is a VUS because it does not have enough information." 5 1322 0.0038 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 6 5008 0.00119808
330244 "chr13:20802741:G>A" "GJB6" "NM_006783:c.-16+978C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs536388784" "This variant is a VUS because it does not have enough information." 0 1322 0 1 1006 0.001 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
330245 "chr13:20802746:T>-" "GJB6" "NM_006783:c.-16+973delA" "FIVE_PRIME_INTRON" "Benign" "rs535715199" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 145 1322 0.1097 93 1006 0.0924 50 694 0.072 6 1008 0.006 51 978 0.0521 345 5008 0.0688898
330246 "chr13:20802746:TCT>CC" "GJB6" "Unknown significance" "rs386768610" "This variant is a VUS because it does not have enough information."
330247 "chr13:20802748:T>-" "GJB6" "NM_006783:c.-16+971delA" "FIVE_PRIME_INTRON" "Unknown significance" "rs771110112" "This variant is a VUS because it does not have enough information."
330248 "chr13:20802748:T>C" "GJB6" "NM_006783:c.-16+971A>G" "FIVE_PRIME_INTRON" "Benign" "rs548282637" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 143 1322 0.1082 93 1006 0.0924 50 694 0.072 5 1008 0.005 50 978 0.0511 341 5008 0.0680911
330249 "chr13:20802752:C>T" "GJB6" "NM_006783:c.-16+967G>A" "FIVE_PRIME_INTRON" "Benign" "rs190716070" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 141 1322 0.1067 107 1006 0.1064 48 694 0.0692 3 1008 0.003 51 978 0.0521 350 5008 0.0698882
330250 "chr13:20802757:G>A" "GJB6" "NM_006783:c.-16+962C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs537655257" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 1 5008 0.000199681
330251 "chr13:20802769:G>A" "GJB6" "NM_006783:c.-16+950C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs368010555" "This variant is a VUS because it does not have enough information."
330252 "chr13:20802772:T>C" "GJB6" "NM_006783:c.-16+947A>G" "FIVE_PRIME_INTRON" "Benign" "rs7320889" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 1053 1322 0.7965 963 1006 0.9573 586 694 0.8444 981 1008 0.9732 958 978 0.9796 4541 5008 0.906749
330253 "chr13:20802773:G>A" "GJB6" "NM_006783:c.-16+946C>T" "FIVE_PRIME_INTRON" "Benign" "rs577161206" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 22 1322 0.0166 0 1006 0 1 694 0.0014 2 1008 0.002 0 978 0 25 5008 0.00499201
330254 "chr13:20802774:C>T" "GJB6" "NM_006783:c.-16+945G>A" "FIVE_PRIME_INTRON" "Benign" "rs534984360" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 22 1322 0.0166 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 23 5008 0.00459265
330255 "chr13:20802778:C>T" "GJB6" "NM_006783:c.-16+941G>A" "FIVE_PRIME_INTRON" "Benign" "rs552980073" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 0 1322 0 4 1006 0.004 2 694 0.0029 0 1008 0 9 978 0.0092 15 5008 0.00299521
330256 "chr13:20802779:A>G" "GJB6" "NM_006783:c.-16+940T>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs776348154" "This variant is a VUS because it does not have enough information."
330257 "chr13:20802780:A>C" "GJB6" "NM_006783:c.-16+939T>G" "FIVE_PRIME_INTRON" "Benign" "rs113606108" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 173 1322 0.1309 25 1006 0.0249 13 694 0.0187 0 1008 0 21 978 0.0215 232 5008 0.0463259
330258 "chr13:20802781:G>A" "GJB6" "NM_006783:c.-16+938C>T" "FIVE_PRIME_INTRON" "Benign" "rs541822001" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 0 1322 0 0 1006 0 0 694 0 0 1008 0 6 978 0.0061 6 5008 0.00119808
330259 "chr13:20802784:C>G" "GJB6" "NM_006783:c.-16+935G>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs761796358" "This variant is a VUS because it does not have enough information."
330260 "chr13:20802791:->T" "GJB6" "NM_006783:c.-16+928_-16+929insA" "FIVE_PRIME_INTRON" "Unknown significance" "rs538127118" "This variant is a VUS because it does not have enough information." 0 1322 0 3 1006 0.003 0 694 0 0 1008 0 0 978 0 3 5008 0.000599042
330261 "chr13:20802800:T>-" "GJB6" "NM_006783:c.-16+919delA" "FIVE_PRIME_INTRON" "Unknown significance" "rs796188895" "This variant is a VUS because it does not have enough information."
330262 "chr13:20802813:C>T" "GJB6" "NM_006783:c.-16+906G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs569408596" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 1 1006 0.001 0 694 0 0 1008 0 1 978 0.001 3 5008 0.000599042
330263 "chr13:20802818:->T" "GJB6" "NM_006783:c.-16+901_-16+902insA" "FIVE_PRIME_INTRON" "Unknown significance" "rs577690876" "This variant is a VUS because it does not have enough information." 2 1322 0.0015 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 3 5008 0.000599042
330264 "chr13:20802824:C>T" "GJB6" "NM_006783:c.-16+895G>A" "FIVE_PRIME_INTRON" "Benign" "rs575600461" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 99 1322 0.0749 8 1006 0.008 16 694 0.0231 0 1008 0 4 978 0.0041 127 5008 0.0253594
330265 "chr13:20802826:TGTTAGCCAGGA>-" "GJB6" "NM_006783:c.-16+893_-16+906delTCCTGGCTAACA" "FIVE_PRIME_INTRON" "Benign" "rs67911177" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 322 1322 0.2436 630 1006 0.6262 462 694 0.6657 995 1008 0.9871 853 978 0.8722 3262 5008 0.651358
330266 "chr13:20802826:->TGTTAGCCAGGA" "GJB6" "NM_006783:c.-16+893_-16+894insTCCTGGCTAACA" "FIVE_PRIME_INTRON" "Unknown significance" "rs772931973" "This variant is a VUS because it does not have enough information."
330267 "chr13:20802828:T>C" "GJB6" "NM_006783:c.-16+891A>G" "FIVE_PRIME_INTRON" "Benign" "rs112824776" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 12 1322 0.0091 30 1006 0.0298 189 694 0.2723 136 1008 0.1349 33 978 0.0337 400 5008 0.0798722
330268 "chr13:20802828:T>G" "GJB6" "NM_006783:c.-16+891A>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs112824776" "This variant is a VUS because it does not have enough information."
330269 "chr13:20802829:TAGCCAGGATGG>-" "GJB6" "NM_006783:c.-16+890_-16+903delCCATCCTGGCTA" "FIVE_PRIME_INTRON" "Unknown significance" "rs765769191" "This variant is a VUS because it does not have enough information."
330270 "chr13:20802829:T>G" "GJB6" "NM_006783:c.-16+890A>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs113597537" "This variant is a VUS because it does not have enough information."
330271 "chr13:20802832:C>G" "GJB6" "NM_006783:c.-16+887G>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs191944879" "This variant is a VUS because it does not have enough information."
330272 "chr13:20802833:C>T" "GJB6" "NM_006783:c.-16+886G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs777989436" "This variant is a VUS because it does not have enough information."
330273 "chr13:20802835:G>A" "GJB6" "NM_006783:c.-16+884C>T" "FIVE_PRIME_INTRON" "Benign" "rs565064280" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 3 1322 0.0023 65 1006 0.0646 21 694 0.0303 116 1008 0.1151 23 978 0.0235 228 5008 0.0455272
330274 "chr13:20802836:G>A" "GJB6" "NM_006783:c.-16+883C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs143605610" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 0 1008 0 1 978 0.001 1 5008 0.000199681
330275 "chr13:20802836:G>C" "GJB6" "NM_006783:c.-16+883C>G" "FIVE_PRIME_INTRON" "Unknown significance" "rs143605610" "This variant is a VUS because it does not have enough information."
330276 "chr13:20802840:G>T" "GJB6" "NM_006783:c.-16+879C>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs541309987" "This variant is a VUS because it does not have enough information." 0 1322 0 4 1006 0.004 0 694 0 0 1008 0 0 978 0 4 5008 0.000798722
330277 "chr13:20802844:C>T" "GJB6" "NM_006783:c.-16+875G>A" "FIVE_PRIME_INTRON" "Benign" "rs12870711" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 295 1322 0.2231 268 1006 0.2664 136 694 0.196 0 1008 0 87 978 0.089 786 5008 0.156949
330278 "chr13:20802845:G>C" "GJB6" "NM_006783:c.-16+874C>G" "FIVE_PRIME_INTRON" "Benign" "rs529737035" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 10 1322 0.0076 2 1006 0.002 3 694 0.0043 0 1008 0 0 978 0 15 5008 0.00299521
330279 "chr13:20802847:T>C" "GJB6" "NM_006783:c.-16+872A>G" "FIVE_PRIME_INTRON" "Benign" "rs372399589" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 11 1322 0.0083 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 12 5008 0.00239617
330280 "chr13:20802848:C>T" "GJB6" "NM_006783:c.-16+871G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs531885873" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 0 1008 0 2 978 0.002 2 5008 0.000399361
330281 "chr13:20802850:C>T" "GJB6" "NM_006783:c.-16+869G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs530515835" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
330282 "chr13:20802853:G>C" "GJB6" "NM_006783:c.-16+866C>G" "FIVE_PRIME_INTRON" "Unknown significance" "rs552786108" "This variant is a VUS because it does not have enough information." 0 1322 0 1 1006 0.001 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
330283 "chr13:20802855:C>T" "GJB6" "NM_006783:c.-16+864G>A" "FIVE_PRIME_INTRON" "Benign" "rs12870715" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 296 1322 0.2239 213 1006 0.2117 122 694 0.1758 0 1008 0 73 978 0.0746 704 5008 0.140575
330284 "chr13:20802856:C>T" "GJB6" "NM_006783:c.-16+863G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs796988047" "This variant is a VUS because it does not have enough information."
330285 "chr13:20802857:T>A" "GJB6" "NM_006783:c.-16+862A>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs535021940" "This variant is a VUS because it does not have enough information." 0 1322 0 1 1006 0.001 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
330286 "chr13:20802858:C>T" "GJB6" "NM_006783:c.-16+861G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs553264496" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 1 5008 0.000199681
330287 "chr13:20802859:A>G" "GJB6" "NM_006783:c.-16+860T>C" "FIVE_PRIME_INTRON" "Benign" "rs7339428" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 867 1322 0.6558 648 1006 0.6441 528 694 0.7608 562 1008 0.5575 521 978 0.5327 3126 5008 0.624201
330288 "chr13:20802865:C>T" "GJB6" "NM_006783:c.-16+854G>A" "FIVE_PRIME_INTRON" "Benign" "rs535841925" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 11 1322 0.0083 0 1006 0 4 694 0.0058 0 1008 0 1 978 0.001 16 5008 0.00319489
330289 "chr13:20802866:G>A" "GJB6" "NM_006783:c.-16+853C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs373176993" "This variant is a VUS because it does not have enough information." 5 1322 0.0038 1 1006 0.001 1 694 0.0014 1 1008 0.001 1 978 0.001 9 5008 0.00179712
330290 "chr13:20802870:C>A" "GJB6" "NM_006783:c.-16+849G>T" "FIVE_PRIME_INTRON" "Benign" "rs12870724" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 386 1322 0.292 269 1006 0.2674 147 694 0.2118 5 1008 0.005 91 978 0.093 898 5008 0.179313
330291 "chr13:20802870:C>G" "GJB6" "NM_006783:c.-16+849G>C" "FIVE_PRIME_INTRON" "Benign" "rs12870724" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 101 1322 0.0764 119 1006 0.1183 52 694 0.0749 258 1008 0.256 102 978 0.1043 632 5008 0.126198
330292 "chr13:20802874:T>C" "GJB6" "NM_006783:c.-16+845A>G" "FIVE_PRIME_INTRON" "Benign" "rs372839665" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 36 1322 0.0272 1 1006 0.001 1 694 0.0014 0 1008 0 0 978 0 38 5008 0.00758786
330293 "chr13:20802875:G>T" "GJB6" "NM_006783:c.-16+844C>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs577127609" "This variant is a VUS because it does not have enough information." 6 1322 0.0045 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 7 5008 0.00139776
330294 "chr13:20802886:G>A" "GJB6" "NM_006783:c.-16+833C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs534512817" "This variant is a VUS because it does not have enough information."
330295 "chr13:20802895:T>C" "GJB6" "NM_006783:c.-16+824A>G" "FIVE_PRIME_INTRON" "Unknown significance" "rs555835338" "This variant is a VUS because it does not have enough information."
330296 "chr13:20802900:A>G" "GJB6" "NM_006783:c.-16+819T>C" "FIVE_PRIME_INTRON" "Benign" "rs9552118" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 65 1322 0.0492 181 1006 0.1799 144 694 0.2075 262 1008 0.2599 304 978 0.3108 956 5008 0.190895
330297 "chr13:20802903:A>G" "GJB6" "NM_006783:c.-16+816T>C" "FIVE_PRIME_INTRON" "Benign" "rs139007640" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 25 1322 0.0189 31 1006 0.0308 9 694 0.013 38 1008 0.0377 26 978 0.0266 129 5008 0.0257588
330298 "chr13:20802912:C>A" "GJB6" "NM_006783:c.-16+807G>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs529907064" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 1 5008 0.000199681
330299 "chr13:20802913:G>A" "GJB6" "NM_006783:c.-16+806C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs541851834" "This variant is a VUS because it does not have enough information." 6 1322 0.0045 0 1006 0 1 694 0.0014 2 1008 0.002 2 978 0.002 11 5008 0.00219649
330300 "chr13:20802914:C>T" "GJB6" "NM_006783:c.-16+805G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs563137061" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 1 978 0.001 2 5008 0.000399361
330301 "chr13:20802915:G>A" "GJB6" "NM_006783:c.-16+804C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs530661706" "This variant is a VUS because it does not have enough information." 0 1322 0 1 1006 0.001 0 694 0 1 1008 0.001 0 978 0 2 5008 0.000399361
330302 "chr13:20802917:C>G" "GJB6" "NM_006783:c.-16+802G>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs551843482" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 1 5008 0.000199681
330303 "chr13:20802919:G>A" "GJB6" "NM_006783:c.-16+800C>T" "FIVE_PRIME_INTRON" "Benign" "rs112663354" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 39 1322 0.0295 5 1006 0.005 8 694 0.0115 0 1008 0 10 978 0.0102 62 5008 0.0123802
330304 "chr13:20802923:C>G" "GJB6" "NM_006783:c.-16+796G>C" "FIVE_PRIME_INTRON" "Benign" "rs7338902" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 1025 1322 0.7753 980 1006 0.9742 661 694 0.9524 1008 1008 1 968 978 0.9898 4642 5008 0.926917
330305 "chr13:20802938:A>T" "GJB6" "NM_006783:c.-16+781T>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs546740534" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 0 1008 0 1 978 0.001 1 5008 0.000199681
330306 "chr13:20802969:C>T" "GJB6" "NM_006783:c.-16+750G>A" "FIVE_PRIME_INTRON" "Benign" "rs73433720" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 29 1322 0.0219 4 1006 0.004 6 694 0.0086 0 1008 0 10 978 0.0102 49 5008 0.00978435
330307 "chr13:20802990:A>G" "GJB6" "NM_006783:c.-16+729T>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs564118123" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 1 1006 0.001 0 694 0 0 1008 0 0 978 0 2 5008 0.000399361
330308 "chr13:20803030:T>C" "GJB6" "NM_006783:c.-16+689A>G" "FIVE_PRIME_INTRON" "Unknown significance" "rs557371960" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
330309 "chr13:20803063:A>G" "GJB6" "NM_006783:c.-16+656T>C" "FIVE_PRIME_INTRON" "Benign" "rs1537787" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 741 1322 0.5605 386 1006 0.3837 281 694 0.4049 570 1008 0.5655 460 978 0.4703 2438 5008 0.486821
330310 "chr13:20803067:A>G" "GJB6" "NM_006783:c.-16+652T>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs539956248" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 0 1008 0 2 978 0.002 2 5008 0.000399361
330311 "chr13:20803087:A>G" "GJB6" "NM_006783:c.-16+632T>C" "FIVE_PRIME_INTRON" "Benign" "rs117438526" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 0 1322 0 26 1006 0.0258 3 694 0.0043 0 1008 0 3 978 0.0031 32 5008 0.00638978
330312 "chr13:20803088:T>G" "GJB6" "NM_006783:c.-16+631A>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs573328525" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 0 1008 0 1 978 0.001 1 5008 0.000199681
330313 "chr13:20803096:C>T" "GJB6" "NM_006783:c.-16+623G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs71424086" "This variant is a VUS because it does not have enough information."
330314 "chr13:20803115:C>T" "GJB6" "NM_006783:c.-16+604G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs71424087" "This variant is a VUS because it does not have enough information."
330315 "chr13:20803130:A>C" "GJB6" "NM_006783:c.-16+589T>G" "FIVE_PRIME_INTRON" "Unknown significance" "rs9579817" "This variant is a VUS because it does not have enough information."
330316 "chr13:20803152:C>A" "GJB6" "NM_006783:c.-16+567G>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs182888804" "This variant is a VUS because it does not have enough information."
330317 "chr13:20803165:A>C" "GJB6" "NM_006783:c.-16+554T>G" "FIVE_PRIME_INTRON" "Unknown significance" "rs71424088" "This variant is a VUS because it does not have enough information."
330318 "chr13:20803188:A>T" "GJB6" "NM_006783:c.-16+531T>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs561872244" "This variant is a VUS because it does not have enough information." 0 1322 0 2 1006 0.002 1 694 0.0014 0 1008 0 0 978 0 3 5008 0.000599042
330319 "chr13:20803227:C>T" "GJB6" "NM_006783:c.-16+492G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs9579818" "This variant is a VUS because it does not have enough information."
330320 "chr13:20803232:T>C" "GJB6" "NM_006783:c.-16+487A>G" "FIVE_PRIME_INTRON" "Benign" "rs553195816" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 0 1322 0 0 1006 0 0 694 0 6 1008 0.006 0 978 0 6 5008 0.00119808
330321 "chr13:20803263:->A" "GJB6" "NM_006783:c.-16+456_-16+457insT" "FIVE_PRIME_INTRON" "Unknown significance" "rs5802041" "This variant is a VUS because it does not have enough information."
330322 "chr13:20803263:A>-" "GJB6" "NM_006783:c.-16+456delT" "FIVE_PRIME_INTRON" "Unknown significance" "rs397851666" "This variant is a VUS because it does not have enough information."
330323 "chr13:20803263:AAA>-" "GJB6" "NM_006783:c.-16+456_-16+460delTTT" "FIVE_PRIME_INTRON" "Unknown significance" "rs756959413" "This variant is a VUS because it does not have enough information."
330324 "chr13:20803263:AAAA>-" "GJB6" "NM_006783:c.-16+456_-16+461delTTTT" "FIVE_PRIME_INTRON" "Unknown significance" "rs371419806" "This variant is a VUS because it does not have enough information."
330325 "chr13:20803263:AAAAA>-" "GJB6" "NM_006783:c.-16+456_-16+462delTTTTT" "FIVE_PRIME_INTRON" "Unknown significance" "rs751807031" "This variant is a VUS because it does not have enough information."
330326 "chr13:20803285:AAAAAT>-" "GJB6" "NM_006783:c.-16+434_-16+441delATTTTT" "FIVE_PRIME_INTRON" "Unknown significance" "rs374719113" "This variant is a VUS because it does not have enough information."
330327 "chr13:20803286:AAAAT>-" "GJB6" "NM_006783:c.-16+433_-16+439delATTTT" "FIVE_PRIME_INTRON" "Unknown significance" "rs368170386" "This variant is a VUS because it does not have enough information."
330328 "chr13:20803287:AAAT>-" "GJB6" "NM_006783:c.-16+432_-16+437delATTT" "FIVE_PRIME_INTRON" "Unknown significance" "rs150590602" "This variant is a VUS because it does not have enough information."
330329 "chr13:20803287:A>T" "GJB6" "NM_006783:c.-16+432T>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs397832655" "This variant is a VUS because it does not have enough information."
330330 "chr13:20803288:A>T" "GJB6" "NM_006783:c.-16+431T>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs1537785" "This variant is a VUS because it does not have enough information."
330331 "chr13:20803289:A>T" "GJB6" "NM_006783:c.-16+430T>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs5004329" "This variant is a VUS because it does not have enough information."
330332 "chr13:20803290:T>-" "GJB6" "NM_006783:c.-16+429delA" "FIVE_PRIME_INTRON" "Unknown significance" "rs375096954" "This variant is a VUS because it does not have enough information."
330333 "chr13:20803290:T>A" "GJB6" "NM_006783:c.-16+429A>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs9552119" "This variant is a VUS because it does not have enough information."
330334 "chr13:20803308:G>A" "GJB6" "NM_006783:c.-16+411C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs60413899" "This variant is a VUS because it does not have enough information."
330335 "chr13:20803320:C>T" "GJB6" "NM_006783:c.-16+399G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs75854986" "This variant is a VUS because it does not have enough information."
330336 "chr13:20803329:C>A" "GJB6" "NM_006783:c.-16+390G>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs77119812" "This variant is a VUS because it does not have enough information."
330337 "chr13:20803341:G>A" "GJB6" "NM_006783:c.-16+378C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs779080146" "This variant is a VUS because it does not have enough information."
330338 "chr13:20803354:C>T" "GJB6" "NM_006783:c.-16+365G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs35006716" "This variant is a VUS because it does not have enough information."
330339 "chr13:20803377:T>A" "GJB6" "NM_006783:c.-16+342A>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs574724766" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 0 1008 0 1 978 0.001 1 5008 0.000199681
330340 "chr13:20803386:C>T" "GJB6" "NM_006783:c.-16+333G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs34589421" "This variant is a VUS because it does not have enough information."
330341 "chr13:20803393:T>C" "GJB6" "NM_006783:c.-16+326A>G" "FIVE_PRIME_INTRON" "Benign" "rs145808643" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 0 1322 0 25 1006 0.0249 3 694 0.0043 0 1008 0 2 978 0.002 30 5008 0.00599042
330342 "chr13:20803410:C>A" "GJB6" "NM_006783:c.-16+309G>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs563333045" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 1 978 0.001 2 5008 0.000399361
330343 "chr13:20803444:T>C" "GJB6" "NM_006783:c.-16+275A>G" "FIVE_PRIME_INTRON" "Benign" "rs71424089" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 220 1322 0.1664 189 1006 0.1879 86 694 0.1239 286 1008 0.2837 125 978 0.1278 906 5008 0.180911
330344 "chr13:20803455:T>-" "GJB6" "NM_006783:c.-16+264delA" "FIVE_PRIME_INTRON" "Unknown significance" "rs71074270" "This variant is a VUS because it does not have enough information."
330345 "chr13:20803455:TT>-" "GJB6" "NM_006783:c.-16+264_-16+267delAA" "FIVE_PRIME_INTRON" "Unknown significance" "rs60451416" "This variant is a VUS because it does not have enough information."
330346 "chr13:20803474:T>A" "GJB6" "NM_006783:c.-16+245A>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs79392219" "This variant is a VUS because it does not have enough information."
330347 "chr13:20803475:T>G" "GJB6" "NM_006783:c.-16+244A>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs74822466" "This variant is a VUS because it does not have enough information."
330348 "chr13:20803477:TTTTTTTTTAG>-" "GJB6" "NM_006783:c.-16+242_-16+254delCTAAAAAAAAA" "FIVE_PRIME_INTRON" "Unknown significance" "rs79435456" "This variant is a VUS because it does not have enough information."
330349 "chr13:20803517:G>T" "GJB6" "NM_006783:c.-16+202C>A" "FIVE_PRIME_INTRON" "Benign" "rs187908818" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 0 1322 0 5 1006 0.005 1 694 0.0014 0 1008 0 1 978 0.001 7 5008 0.00139776
330350 "chr13:20803545:C>T" "GJB6" "NM_006783:c.-16+174G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs563838036" "This variant is a VUS because it does not have enough information." 6 1322 0.0045 0 1006 0 0 694 0 0 1008 0 0 978 0 6 5008 0.00119808
330351 "chr13:20803547:G>A" "GJB6" "NM_006783:c.-16+172C>T" "FIVE_PRIME_INTRON" "Benign" "rs528132778" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 1 1322 0.0008 0 1006 0 5 694 0.0072 0 1008 0 0 978 0 6 5008 0.00119808
330352 "chr13:20803556:A>T" "GJB6" "NM_006783:c.-16+163T>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs751101143" "This variant is a VUS because it does not have enough information."
330353 "chr13:20803564:G>C" "GJB6" "NM_006783:c.-16+155C>G" "FIVE_PRIME_INTRON" "Unknown significance" "rs546829133" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 0 978 0 1 5008 0.000199681
330354 "chr13:20803583:C>T" "GJB6" "NM_006783:c.-16+136G>A" "FIVE_PRIME_INTRON" "Benign" "rs35566348" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 46 1322 0.0348 132 1006 0.1312 58 694 0.0836 71 1008 0.0704 88 978 0.09 395 5008 0.0788738
330355 "chr13:20803585:C>T" "GJB6" "NM_006783:c.-16+134G>A" "FIVE_PRIME_INTRON" "Benign" "rs151068423" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 2 1322 0.0015 0 1006 0 69 694 0.0994 14 1008 0.0139 0 978 0 85 5008 0.0169728
330356 "chr13:20803586:G>A" "GJB6" "NM_006783:c.-16+133C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs539952976" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 2 1006 0.002 0 694 0 0 1008 0 0 978 0 3 5008 0.000599042
330357 "chr13:20803613:G>A" "GJB6" "NM_006783:c.-16+106C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs9509099" "This variant is a VUS because it does not have enough information."
330358 "chr13:20803620:G>A" "GJB6" "NM_006783:c.-16+99C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs9509100" "This variant is a VUS because it does not have enough information."
330359 "chr13:20803641:A>C" "GJB6" "NM_006783:c.-16+78T>G" "FIVE_PRIME_INTRON" "Unknown significance" "rs569506741" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 0 1008 0 1 978 0.001 1 5008 0.000199681
330360 "chr13:20803647:G>A" "GJB6" "NM_006783:c.-16+72C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs529826085" "This variant is a VUS because it does not have enough information."
330361 "chr13:20803649:A>T" "GJB6" "NM_006783:c.-16+70T>A" "FIVE_PRIME_INTRON" "Benign" "rs142323724" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 0 1322 0 0 1006 0 0 694 0 9 1008 0.0089 0 978 0 9 5008 0.00179712
330362 "chr13:20803666:C>T" "GJB6" "NM_006783:c.-16+53G>A" "FIVE_PRIME_INTRON" "Benign" "rs114089781" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 100 1322 0.0756 0 1006 0 3 694 0.0043 0 1008 0 0 978 0 103 5008 0.0205671
330363 "chr13:20803667:G>A" "GJB6" "NM_006783:c.-16+52C>T" "FIVE_PRIME_INTRON" "Benign" "rs117280769" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 18 1322 0.0136 8 1006 0.008 13 694 0.0187 0 1008 0 0 978 0 39 5008 0.00778754
330364 "chr13:20803679:T>C" "GJB6" "NM_006783:c.-16+40A>G" "FIVE_PRIME_INTRON" "Unknown significance" "rs777957693" "This variant is a VUS because it does not have enough information."
330365 "chr13:20803681:G>A" "GJB6" "NM_006783:c.-16+38C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs9509101" "This variant is a VUS because it does not have enough information."
330366 "chr13:20803709:A>G" "GJB6" "NM_006783:c.-16+10T>C" "FIVE_PRIME_INTRON" "Unknown significance" "This variant is a VUS because it does not have enough information." 0 400 0 1 320 0.003125 0 320 0 0 400 0 0 360 0 0 200 0 1 2000 0.0005
330367 "chr13:20803718:C>T" "GJB6" "NM_006783:c.-16+1G>A" "FIVE_PRIME_INTRON" "Unknown significance" 0 400 0 0 320 0 0 320 0 0 400 0 0 360 0 1 200 0.005 1 2000 0.0005
330368 "chr13:20803729:T>C" "GJB6" "NM_006783:c.-26A>G" "FIVE_PRIME_EXON" "Benign" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 0 400 0 0 320 0 0 320 0 2 400 0.005 0 360 0 0 200 0 2 2000 0.001
330369 "chr13:20803736:C>T" "GJB6" "NM_006783:c.-33G>A" "FIVE_PRIME_EXON" "Unknown significance" "rs533982140" "This variant is a VUS because it does not have enough information."
330370 "chr13:20803738:A>T" "GJB6" "NM_006783:c.-35T>A" "FIVE_PRIME_EXON" "Unknown significance" "rs534287605" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 0 1008 0 2 978 0.002 2 5008 0.000399361
330371 "chr13:20803753:G>A" "GJB6" "NM_006783:c.-50C>T" "FIVE_PRIME_EXON" "Unknown significance" "rs9509102" "This variant is a VUS because it does not have enough information."
330372 "chr13:20803761:G>A" "GJB6" "NM_006783:c.-58C>T" "FIVE_PRIME_EXON" "Unknown significance" "rs9509103" "This variant is a VUS because it does not have enough information."
330373 "chr13:20803784:G>C" "GJB6" "NM_006783:c.-81C>G" "FIVE_PRIME_EXON" "Unknown significance" "rs553234457" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 1 978 0.001 2 5008 0.000399361
330374 "chr13:20803787:G>A" "GJB6" "NM_006783:c.-84C>T" "FIVE_PRIME_EXON" "Unknown significance" "rs762159582" "This variant is a VUS because it does not have enough information."
330375 "chr13:20803808:A>T" "GJB6" "NM_006783:c.-105T>A" "FIVE_PRIME_EXON" "Benign" "rs114639494" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 109 1322 0.0825 1 1006 0.001 11 694 0.0159 0 1008 0 0 978 0 121 5008 0.0241613
330376 "chr13:20803809:C>A" "GJB6" "NM_006783:c.-106G>T" "FIVE_PRIME_EXON" "Unknown significance" "rs555718664" "This variant is a VUS because it does not have enough information."
330377 "chr13:20803819:G>A" "GJB6" "NM_006783:c.-116C>T" "FIVE_PRIME_EXON" "Unknown significance" "rs574024287" "This variant is a VUS because it does not have enough information."
330378 "chr13:20803821:G>A" "GJB6" "NM_006783:c.-118C>T" "FIVE_PRIME_EXON" "Unknown significance" "rs535606339" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 0 1008 0 3 978 0.0031 3 5008 0.000599042
330379 "chr13:20803837:T>C" "GJB6" "NM_006783:c.-134A>G" "FIVE_PRIME_EXON" "Unknown significance" "rs750832532" "This variant is a VUS because it does not have enough information."
330380 "chr13:20803838:G>T" "GJB6" "NM_006783:c.-135C>A" "FIVE_PRIME_EXON" "Unknown significance" "rs569845503" "This variant is a VUS because it does not have enough information."
330381 "chr13:20803861:A>G" "GJB6" "NM_006783:c.-158T>C" "FIVE_PRIME_EXON" "Unknown significance" "rs201084500" "This variant is a VUS because it does not have enough information."
330382 "chr13:20803870:C>T" "GJB6" "NM_006783:c.-167G>A" "FIVE_PRIME_EXON" "Unknown significance" "rs146367916" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
330383 "chr13:20803887:G>C" "GJB6" "NM_006783:c.-184C>G" "FIVE_PRIME_EXON" "Unknown significance" "rs9509104" "This variant is a VUS because it does not have enough information."
330384 "chr13:20803918:A>G" "GJB6" "NM_006783:c.-185-30T>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs575446574" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 0 978 0 1 5008 0.000199681
330385 "chr13:20803930:CT>-" "GJB6" "NM_006783:c.-185-42_-185-39delAG" "FIVE_PRIME_INTRON" "Unknown significance" "rs146108771" "This variant is a VUS because it does not have enough information."
330386 "chr13:20803931:T>-" "GJB6" "NM_006783:c.-185-43delA" "FIVE_PRIME_INTRON" "Unknown significance" "rs148631780" "This variant is a VUS because it does not have enough information."
330387 "chr13:20803931:T>C" "GJB6" "NM_006783:c.-185-43A>G" "FIVE_PRIME_INTRON" "Unknown significance" "rs199873103" "This variant is a VUS because it does not have enough information."
330388 "chr13:20803932:C>-" "GJB6" "NM_006783:c.-185-44delG" "FIVE_PRIME_INTRON" "Unknown significance" "rs374868246" "This variant is a VUS because it does not have enough information."
330389 "chr13:20803932:CC>-" "GJB6" "NM_006783:c.-185-44_-185-41delGG" "FIVE_PRIME_INTRON" "Unknown significance" "rs751196111" "This variant is a VUS because it does not have enough information."
330390 "chr13:20803936:C>A" "GJB6" "NM_006783:c.-185-48G>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs398088931" "This variant is a VUS because it does not have enough information."
330391 "chr13:20803937:->CCCCCCCG" "GJB6" "NM_006783:c.-185-49_-185-48insCGGGGGGG" "FIVE_PRIME_INTRON" "Unknown significance" "rs67678168" "This variant is a VUS because it does not have enough information."
330392 "chr13:20803936:CC>ACCCCCCG" "GJB6" "Unknown significance" "rs67678168" "This variant is a VUS because it does not have enough information."
330393 "chr13:20803937:C>A" "GJB6" "NM_006783:c.-185-49G>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs36042444" "This variant is a VUS because it does not have enough information."
330394 "chr13:20803937:C>G" "GJB6" "NM_006783:c.-185-49G>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs36042444" "This variant is a VUS because it does not have enough information."
330395 "chr13:20803940:CCC>-" "GJB6" "NM_006783:c.-185-52_-185-48delGGG" "FIVE_PRIME_INTRON" "Unknown significance" "rs371866730" "This variant is a VUS because it does not have enough information."
330396 "chr13:20803942:C>T" "GJB6" "NM_006783:c.-185-54G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs202147485" "This variant is a VUS because it does not have enough information."
330397 "chr13:20803942:CCGC>GA" "GJB6" "Unknown significance" "rs386768611" "This variant is a VUS because it does not have enough information."
330398 "chr13:20803943:C>A" "GJB6" "NM_006783:c.-185-55G>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs5802042" "This variant is a VUS because it does not have enough information."
330399 "chr13:20803943:C>G" "GJB6" "NM_006783:c.-185-55G>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs5802042" "This variant is a VUS because it does not have enough information."
330400 "chr13:20803943:CGC>GA" "GJB6" "Unknown significance" "rs386768612" "This variant is a VUS because it does not have enough information."
330401 "chr13:20803944:G>A" "GJB6" "NM_006783:c.-185-56C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs13378299" "This variant is a VUS because it does not have enough information."
330402 "chr13:20803944:G>C" "GJB6" "NM_006783:c.-185-56C>G" "FIVE_PRIME_INTRON" "Unknown significance" "rs13378299" "This variant is a VUS because it does not have enough information."
330403 "chr13:20803945:C>A" "GJB6" "NM_006783:c.-185-57G>T" "FIVE_PRIME_INTRON" "Benign" "rs142267166" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 226 1322 0.171 0 1006 0 12 694 0.0173 0 1008 0 0 978 0 238 5008 0.047524
330404 "chr13:20803950:C>T" "GJB6" "NM_006783:c.-185-62G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs563727882" "This variant is a VUS because it does not have enough information." 0 1322 0 1 1006 0.001 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
330405 "chr13:20803954:A>G" "GJB6" "NM_006783:c.-185-66T>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs572648403" "This variant is a VUS because it does not have enough information." 2 1322 0.0015 0 1006 0 0 694 0 0 1008 0 0 978 0 2 5008 0.000399361
330406 "chr13:20804003:C>G" "GJB6" "NM_006783:c.-185-115G>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs758874164" "This variant is a VUS because it does not have enough information."
330407 "chr13:20804078:C>G" "GJB6" "NM_006783:c.-185-190G>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs539917082" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 0 1008 0 2 978 0.002 2 5008 0.000399361
330408 "chr13:20804084:A>G" "GJB6" "NM_006783:c.-185-196T>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs780492297" "This variant is a VUS because it does not have enough information."
330409 "chr13:20804138:C>T" "GJB6" "NM_006783:c.-185-250G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs192710126" "This variant is a VUS because it does not have enough information." 6 1322 0.0045 0 1006 0 0 694 0 0 1008 0 0 978 0 6 5008 0.00119808
330410 "chr13:20804140:C>T" "GJB6" "NM_006783:c.-185-252G>A" "FIVE_PRIME_INTRON" "Benign" "rs115871620" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 32 1322 0.0242 1 1006 0.001 4 694 0.0058 0 1008 0 0 978 0 37 5008 0.00738818
330411 "chr13:20804156:C>T" "GJB6" "NM_006783:c.-185-268G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs538121904" "This variant is a VUS because it does not have enough information."
330412 "chr13:20804163:G>A" "GJB6" "NM_006783:c.-185-275C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs756193390" "This variant is a VUS because it does not have enough information."
330413 "chr13:20804168:->G" "GJB6" "NM_006783:c.-185-280_-185-279insC" "FIVE_PRIME_INTRON" "Unknown significance" "rs35719075" "This variant is a VUS because it does not have enough information."
330414 "chr13:20804225:A>G" "GJB6" "NM_006783:c.-185-337T>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs551107911" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 2 694 0.0029 0 1008 0 0 978 0 2 5008 0.000399361
330415 "chr13:20804295:G>A" "GJB6" "NM_006783:c.-185-407C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs563049135" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
330416 "chr13:20804299:A>G" "GJB6" "NM_006783:c.-185-411T>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs533660083" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
330417 "chr13:20804328:C>T" "GJB6" "NM_006783:c.-185-440G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs538595719" "This variant is a VUS because it does not have enough information."
330418 "chr13:20804334:A>G" "GJB6" "NM_006783:c.-185-446T>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs551847290" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 1 5008 0.000199681
330419 "chr13:20804353:T>C" "GJB6" "NM_006783:c.-185-465A>G" "FIVE_PRIME_INTRON" "Benign" "rs116016313" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 115 1322 0.087 0 1006 0 5 694 0.0072 0 1008 0 0 978 0 120 5008 0.0239617
330420 "chr13:20804367:G>A" "GJB6" "NM_006783:c.-185-479C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs556356599" "This variant is a VUS because it does not have enough information."
330421 "chr13:20804425:G>A" "GJB6" "NM_006783:c.-185-537C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs184890006" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 2 694 0.0029 0 1008 0 3 978 0.0031 5 5008 0.000998403
330422 "chr13:20804436:T>A" "GJB6" "NM_006783:c.-185-548A>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs55643447" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 4 1006 0.004 0 694 0 0 1008 0 0 978 0 5 5008 0.000998403
330423 "chr13:20804462:C>T" "GJB6" "NM_006783:c.-186+543G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs567723908" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
330424 "chr13:20804474:C>T" "GJB6" "NM_006783:c.-186+531G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs188012100" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 1 5008 0.000199681
330425 "chr13:20804475:G>A" "GJB6" "NM_006783:c.-186+530C>T" "FIVE_PRIME_INTRON" "Benign" "rs192241081" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 7 1322 0.0053 0 1006 0 4 694 0.0058 0 1008 0 0 978 0 11 5008 0.00219649
330426 "chr13:20804481:T>G" "GJB6" "NM_006783:c.-186+524A>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs575487846" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 0 978 0 1 5008 0.000199681
330427 "chr13:20804484:T>G" "GJB6" "NM_006783:c.-186+521A>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs539343888" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 0 978 0 1 5008 0.000199681
330428 "chr13:20804485:T>C" "GJB6" "NM_006783:c.-186+520A>G" "FIVE_PRIME_INTRON" "Unknown significance" "rs748896181" "This variant is a VUS because it does not have enough information."
330429 "chr13:20804496:A>C" "GJB6" "NM_006783:c.-186+509T>G" "FIVE_PRIME_INTRON" "Unknown significance" "rs2313486" "This variant is a VUS because it does not have enough information."
330430 "chr13:20804519:A>G" "GJB6" "NM_006783:c.-186+486T>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs150176785" "This variant is a VUS because it does not have enough information." 5 1322 0.0038 0 1006 0 0 694 0 0 1008 0 0 978 0 5 5008 0.000998403
330431 "chr13:20804525:A>T" "GJB6" "NM_006783:c.-186+480T>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs756921906" "This variant is a VUS because it does not have enough information."
330432 "chr13:20804531:T>A" "GJB6" "NM_006783:c.-186+474A>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs564072925" "This variant is a VUS because it does not have enough information."
330433 "chr13:20804533:A>T" "GJB6" "NM_006783:c.-186+472T>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs772319811" "This variant is a VUS because it does not have enough information."
330434 "chr13:20804542:T>G" "GJB6" "NM_006783:c.-186+463A>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs778617784" "This variant is a VUS because it does not have enough information."
330435 "chr13:20804543:T>C" "GJB6" "NM_006783:c.-186+462A>G" "FIVE_PRIME_INTRON" "Unknown significance" "rs184941072" "This variant is a VUS because it does not have enough information." 0 1322 0 1 1006 0.001 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
330436 "chr13:20804569:T>-" "GJB6" "NM_006783:c.-186+436delA" "FIVE_PRIME_INTRON" "Unknown significance" "rs781373371" "This variant is a VUS because it does not have enough information."
330437 "chr13:20804572:G>C" "GJB6" "NM_006783:c.-186+433C>G" "FIVE_PRIME_INTRON" "Benign" "rs115033586" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 189 1322 0.143 1 1006 0.001 10 694 0.0144 0 1008 0 0 978 0 200 5008 0.0399361
330438 "chr13:20804647:G>A" "GJB6" "NM_006783:c.-186+358C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs189401554" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 2 694 0.0029 0 1008 0 0 978 0 2 5008 0.000399361
330439 "chr13:20804712:C>A" "GJB6" "NM_006783:c.-186+293G>T" "FIVE_PRIME_INTRON" "Benign" "rs6490529" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 15 1322 0.0113 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 16 5008 0.00319489
330440 "chr13:20804750:G>A" "GJB6" "NM_006783:c.-186+255C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs775341852" "This variant is a VUS because it does not have enough information."
330441 "chr13:20804800:A>G" "GJB6" "NM_006783:c.-186+205T>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs544521029" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 2 1008 0.002 0 978 0 2 5008 0.000399361
330442 "chr13:20804803:A>G" "GJB6" "NM_006783:c.-186+202T>C" "FIVE_PRIME_INTRON" "Benign" "rs73433723" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 22 1322 0.0166 1 1006 0.001 1 694 0.0014 0 1008 0 0 978 0 24 5008 0.00479233
330443 "chr13:20804809:A>C" "GJB6" "NM_006783:c.-186+196T>G" "FIVE_PRIME_INTRON" "Unknown significance" "rs181918230" "This variant is a VUS because it does not have enough information." 2 1322 0.0015 0 1006 0 0 694 0 0 1008 0 0 978 0 2 5008 0.000399361
330444 "chr13:20804864:G>C" "GJB6" "NM_006783:c.-186+141C>G" "FIVE_PRIME_INTRON" "Benign" "rs955684" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 0 400 0 1 320 0.003125 3 320 0.009375 0 400 0 0 360 0 0 200 0 4 2000 0.002 152 1322 0.115 0 1006 0 9 694 0.013 1 1008 0.001 0 978 0 162 5008 0.0323482
330445 "chr13:20804877:G>A" "GJB6" "NM_006783:c.-186+128C>T" "FIVE_PRIME_INTRON" "Unknown significance" "This variant is a VUS because it does not have enough information." 0 400 0 0 320 0 0 320 0 1 400 0.0025 0 360 0 0 200 0 1 2000 0.0005
330446 "chr13:20804880:C>T" "GJB6" "NM_006783:c.-186+125G>A" "FIVE_PRIME_INTRON" "Unknown significance" "This variant is a VUS because it does not have enough information." 0 400 0 0 320 0 0 320 0 1 400 0.0025 0 360 0 0 200 0 1 2000 0.0005
330447 "chr13:20804882:A>C" "GJB6" "NM_006783:c.-186+123T>G" "FIVE_PRIME_INTRON" "Unknown significance" "rs184490148" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 1 5008 0.000199681
330448 "chr13:20804899:C>T" "GJB6" "NM_006783:c.-186+106G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs776874873" "This variant is a VUS because it does not have enough information."
330449 "chr13:20804900:G>A" "GJB6" "NM_006783:c.-186+105C>T" "FIVE_PRIME_INTRON" "Unknown significance" "This variant is a VUS because it does not have enough information." 0 400 0 0 320 0 0 320 0 1 400 0.0025 0 360 0 0 200 0 1 2000 0.0005
330450 "chr13:20804903:A>G" "GJB6" "NM_006783:c.-186+102T>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs143480372" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
330451 "chr13:20804908:G>T" "GJB6" "NM_006783:c.-186+97C>A" "FIVE_PRIME_INTRON" "Benign" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 2 400 0.005 0 320 0 0 320 0 0 400 0 0 360 0 0 200 0 2 2000 0.001
330452 "chr13:20804923:G>T" "GJB6" "NM_006783:c.-186+82C>A" "FIVE_PRIME_INTRON" "Benign" "rs188901192" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 15 1322 0.0113 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 16 5008 0.00319489
330453 "chr13:20804948:T>C" "GJB6" "NM_001110219:c.-295-2A>G" "FIVE_PRIME_INTRON" "Unknown significance" "rs762069831" "This variant is a VUS because it does not have enough information."
330454 "chr13:20804954:T>C" "GJB6" "NM_001110219:c.-295-8A>G" "FIVE_PRIME_INTRON" "Unknown significance" "rs567660760" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 0 1008 0 1 978 0.001 1 5008 0.000199681
330455 "chr13:20805015:A>C" "GJB6" "NM_006783:c.-196T>G" "FIVE_PRIME_EXON" "Unknown significance" "rs181987966" "This variant is a VUS because it does not have enough information."
330456 "chr13:20805045:T>G" "GJB6" "NM_006783:c.-226A>C" "FIVE_PRIME_EXON" "Benign" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 6 400 0.015 0 320 0 0 320 0 0 400 0 0 360 0 0 200 0 6 2000 0.003
330457 "chr13:20805046:G>A" "GJB6" "NM_006783:c.-227C>T" "FIVE_PRIME_EXON" "Benign" "rs55901410" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 4 400 0.01 0 320 0 0 320 0 0 400 0 1 360 0.00277778 7 200 0.035 12 2000 0.006 0 1322 0 4 1006 0.004 0 694 0 1 1008 0.001 9 978 0.0092 14 5008 0.00279553
330458 "chr13:20805060:C>T" "GJB6" "NM_006783:c.-241G>A" "FIVE_PRIME_EXON" "Benign" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 0 400 0 2 320 0.00625 0 320 0 0 400 0 0 360 0 0 200 0 2 2000 0.001
330459 "chr13:20805075:C>T" "GJB6" "NM_006783:c.-256G>A" "FIVE_PRIME_EXON" "Unknown significance" "rs539881427" "This variant is a VUS because it does not have enough information." 1 400 0.0025 0 320 0 1 320 0.003125 0 400 0 1 360 0.00277778 0 200 0 3 2000 0.0015 0 1322 0 0 1006 0 2 694 0.0029 0 1008 0 0 978 0 2 5008 0.000399361
330460 "chr13:20805104:A>C" "GJB6" "NM_006783:c.-285T>G" "FIVE_PRIME_EXON" "Unknown significance" "This variant is a VUS because it does not have enough information." 0 400 0 0 320 0 0 320 0 0 400 0 0 360 0 0 200 0 0 2000 0
330461 "chr13:20805105:C>T" "GJB6" "NM_006783:c.-286G>A" "FIVE_PRIME_EXON" "Unknown significance" "rs763285179" "This variant is a VUS because it does not have enough information."
330462 "chr13:20805118:G>A" "GJB6" "NM_006783:c.-299C>T" "FIVE_PRIME_EXON" "Unknown significance" "rs561644836" "This variant is a VUS because it does not have enough information."
330463 "chr13:20805136:T>G" "GJB6" "NM_006783:c.-317A>C" "FIVE_PRIME_EXON" "Unknown significance" "This variant is a VUS because it does not have enough information." 0 400 0 0 320 0 0 320 0 0 400 0 0 360 0 0 200 0 0 2000 0
330464 "chr13:20805144:C>A" "GJB6" "NM_006783:c.-325G>T" "FIVE_PRIME_EXON" "Unknown significance" "rs568688322" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 4 1008 0.004 0 978 0 4 5008 0.000798722
330465 "chr13:20805151:A>C" "GJB6" "NM_006783:c.-332T>G" "FIVE_PRIME_EXON" "Benign" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 0 400 0 0 320 0 5 320 0.015625 0 400 0 0 360 0 2 200 0.01 7 2000 0.0035
330466 "chr13:20805154:C>T" "GJB6" "NM_006783:c.-335G>A" "FIVE_PRIME_EXON" "Benign" "rs142299925" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 9 1322 0.0068 0 1006 0 1 694 0.0014 1 1008 0.001 0 978 0 11 5008 0.00219649
330467 "chr13:20805156:C>T" "GJB6" "NM_006783:c.-337G>A" "FIVE_PRIME_EXON" "Benign" "rs61058739" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 9 400 0.0225 3 320 0.009375 0 320 0 0 400 0 9 360 0.025 0 200 0 21 2000 0.0105 19 1322 0.0144 6 1006 0.006 13 694 0.0187 0 1008 0 0 978 0 38 5008 0.00758786
330468 "chr13:20805165:C>T" "GJB6" "NM_006783:c.-346G>A" "FIVE_PRIME_EXON" "Benign" "rs7333727" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 0 400 0 1 320 0.003125 0 320 0 0 400 0 0 360 0 0 200 0 1 2000 0.0005 70 1322 0.053 0 1006 0 4 694 0.0058 0 1008 0 0 978 0 74 5008 0.0147764
330469 "chr13:20805173:G>A" "GJB6" "NM_006783:c.-354C>T" "FIVE_PRIME_EXON" "Unknown significance" "rs138547643" "This variant is a VUS because it does not have enough information." 2 1322 0.0015 0 1006 0 0 694 0 0 1008 0 0 978 0 2 5008 0.000399361
330470 "chr13:20805185:A>C" "GJB6" "NM_006783:c.-366T>G" "FIVE_PRIME_EXON" "Unknown significance" "This variant is a VUS because it does not have enough information." 0 400 0 0 320 0 0 320 0 0 400 0 0 360 0 0 200 0 0 2000 0
330471 "chr13:20805190:C>T" "GJB6" "NM_006783:c.-371G>A" "FIVE_PRIME_EXON" "Unknown significance" "rs555332520" "This variant is a VUS because it does not have enough information." 0 1322 0 1 1006 0.001 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
330472 "chr13:20805224:C>T" "GJB6" "NM_006783:c.-405G>A" "FIVE_PRIME_EXON" "Unknown significance" "rs573703525" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 0 1008 0 2 978 0.002 2 5008 0.000399361
330473 "chr13:20805247:C>T" "GJB6" "NM_006783:c.-428G>A" "FIVE_PRIME_EXON" "Unknown significance" "rs755537209" "This variant is a VUS because it does not have enough information."
330474 "chr13:20805250:C>T" "GJB6" "NM_006783:c.-431G>A" "FIVE_PRIME_EXON" "Unknown significance" "rs544273923" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 2 694 0.0029 0 1008 0 0 978 0 2 5008 0.000399361
330475 "chr13:20805252:C>T" "GJB6" "NM_006783:c.-433G>A" "FIVE_PRIME_EXON" "Benign" "rs142230271" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 5 400 0.0125 7 320 0.021875 2 320 0.00625 0 400 0 9 360 0.025 2 200 0.01 25 2000 0.0125 0 1322 0 8 1006 0.008 6 694 0.0086 0 1008 0 0 978 0 14 5008 0.00279553
330476 "chr13:20805392:G>A" "GJB6" "NM_001110221:c.-186+941C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs753355670" "This variant is a VUS because it does not have enough information."
330477 "chr13:20805415:T>C" "GJB6" "NM_001110221:c.-186+918A>G" "FIVE_PRIME_INTRON" "Benign" "rs56841191" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 9 400 0.0225 3 320 0.009375 0 320 0 0 400 0 9 360 0.025 0 200 0 21 2000 0.0105 34 1322 0.0257 7 1006 0.007 14 694 0.0202 0 1008 0 0 978 0 55 5008 0.0109824
330478 "chr13:20805421:C>A" "GJB6" "NM_001110221:c.-186+912G>T" "FIVE_PRIME_INTRON" "Unknown significance" "This variant is a VUS because it does not have enough information." 0 400 0 0 320 0 0 320 0 0 400 0 0 360 0 0 200 0 0 2000 0
330479 "chr13:20805424:A>C" "GJB6" "NM_001110221:c.-186+909T>G" "FIVE_PRIME_INTRON" "Benign" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 0 400 0 0 320 0 5 320 0.015625 0 400 0 0 360 0 4 200 0.02 9 2000 0.0045
330480 "chr13:20805466:G>A" "GJB6" "NM_001110221:c.-186+867C>T" "FIVE_PRIME_INTRON" "Benign" "rs186165007" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 3 400 0.0075 1 320 0.003125 0 320 0 0 400 0 0 360 0 0 200 0 4 2000 0.002 0 1322 0 8 1006 0.008 8 694 0.0115 0 1008 0 0 978 0 16 5008 0.00319489
330481 "chr13:20805480:A>C" "GJB6" "NM_001110221:c.-186+853T>G" "FIVE_PRIME_INTRON" "Unknown significance" "This variant is a VUS because it does not have enough information." 0 400 0 0 320 0 0 320 0 0 400 0 0 360 0 0 200 0 0 2000 0
330482 "chr13:20805488:G>A" "GJB6" "NM_001110221:c.-186+845C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs769637954" "This variant is a VUS because it does not have enough information."
330483 "chr13:20805497:G>C" "GJB6" "NM_001110221:c.-186+836C>G" "FIVE_PRIME_INTRON" "Unknown significance" "rs772826229" "This variant is a VUS because it does not have enough information."
330484 "chr13:20805519:A>C" "GJB6" "NM_001110220:c.-186+2T>G" "FIVE_PRIME_INTRON" "Unknown significance" "This variant is a VUS because it does not have enough information." 0 400 0 0 320 0 0 320 0 0 400 0 0 360 0 0 200 0 0 2000 0
330485 "chr13:20805522:C>A" "GJB6" "NM_001110220:c.-187G>T" "FIVE_PRIME_EXON" "Unknown significance" "rs11843171" "This variant is a VUS because it does not have enough information."
330486 "chr13:20805525:A>C" "GJB6" "NM_001110220:c.-190T>G" "FIVE_PRIME_EXON" "Unknown significance" "This variant is a VUS because it does not have enough information." 0 400 0 0 320 0 0 320 0 0 400 0 0 360 0 0 200 0 0 2000 0
330487 "chr13:20805538:C>A" "GJB6" "NM_001110221:c.-186+795G>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs745657829" "This variant is a VUS because it does not have enough information."
330488 "chr13:20805580:C>T" "GJB6" "NM_001110221:c.-186+753G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs139342676" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 3 1008 0.003 0 978 0 3 5008 0.000599042
330489 "chr13:20805581:C>T" "GJB6" "NM_001110221:c.-186+752G>A" "FIVE_PRIME_INTRON" "Benign" "rs150039369" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 4 400 0.01 2 320 0.00625 2 320 0.00625 0 400 0 2 360 0.00555556 4 200 0.02 14 2000 0.007 0 1322 0 11 1006 0.0109 10 694 0.0144 0 1008 0 9 978 0.0092 30 5008 0.00599042
330490 "chr13:20805589:C>T" "GJB6" "NM_001110221:c.-186+744G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs770769136" "This variant is a VUS because it does not have enough information."
330491 "chr13:20805633:T>C" "GJB6" "NM_001110221:c.-186+700A>G" "FIVE_PRIME_INTRON" "Unknown significance" "rs542693691" "This variant is a VUS because it does not have enough information." 2 1322 0.0015 0 1006 0 0 694 0 0 1008 0 0 978 0 2 5008 0.000399361
330492 "chr13:20805656:C>A" "GJB6" "NM_001110221:c.-186+677G>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs561330751" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 1 1008 0.001 0 978 0 1 5008 0.000199681
330493 "chr13:20805710:G>A" "GJB6" "NM_001110221:c.-186+623C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs531738507" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
330494 "chr13:20805718:G>A" "GJB6" "NM_001110221:c.-186+615C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs779933552" "This variant is a VUS because it does not have enough information."
330495 "chr13:20805738:T>C" "GJB6" "NM_001110221:c.-186+595A>G" "FIVE_PRIME_INTRON" "Unknown significance" "rs550231910" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
330496 "chr13:20805749:T>C" "GJB6" "NM_001110221:c.-186+584A>G" "FIVE_PRIME_INTRON" "Benign" "rs191122190" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 13 1322 0.0098 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 14 5008 0.00279553
330497 "chr13:20805771:->C" "GJB6" "NM_001110221:c.-186+562_-186+563insG" "FIVE_PRIME_INTRON" "Unknown significance" "rs36114191" "This variant is a VUS because it does not have enough information."
330498 "chr13:20805771:C>A" "GJB6" "NM_001110221:c.-186+562G>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs532981599" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 1 5008 0.000199681
330499 "chr13:20805781:G>A" "GJB6" "NM_001110221:c.-186+552C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs566888884" "This variant is a VUS because it does not have enough information."
330500 "chr13:20805789:C>T" "GJB6" "NM_001110221:c.-186+544G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs551114751" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
330501 "chr13:20805817:G>C" "GJB6" "NM_001110221:c.-186+516C>G" "FIVE_PRIME_INTRON" "Unknown significance" "rs566471842" "This variant is a VUS because it does not have enough information." 0 1322 0 1 1006 0.001 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
330502 "chr13:20805846:C>T" "GJB6" "NM_001110221:c.-186+487G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs534091650" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 0 1008 0 1 978 0.001 1 5008 0.000199681
330503 "chr13:20805867:T>C" "GJB6" "NM_001110221:c.-186+466A>G" "FIVE_PRIME_INTRON" "Unknown significance" "rs555098708" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 4 1008 0.004 0 978 0 4 5008 0.000798722
330504 "chr13:20805908:C>T" "GJB6" "NM_001110221:c.-186+425G>A" "FIVE_PRIME_INTRON" "Benign" "rs567239691" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 7 1322 0.0053 0 1006 0 2 694 0.0029 0 1008 0 0 978 0 9 5008 0.00179712
330505 "chr13:20805914:C>T" "GJB6" "NM_001110221:c.-186+419G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs746874908" "This variant is a VUS because it does not have enough information."
330506 "chr13:20805991:G>C" "GJB6" "NM_001110221:c.-186+342C>G" "FIVE_PRIME_INTRON" "Unknown significance" "rs768729571" "This variant is a VUS because it does not have enough information."
330507 "chr13:20806026:G>T" "GJB6" "NM_001110221:c.-186+307C>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs759097928" "This variant is a VUS because it does not have enough information."
330508 "chr13:20806028:G>T" "GJB6" "NM_001110221:c.-186+305C>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs767090190" "This variant is a VUS because it does not have enough information."
330509 "chr13:20806039:G>A" "GJB6" "NM_001110221:c.-186+294C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs180741499" "This variant is a VUS because it does not have enough information." 2 1322 0.0015 0 1006 0 0 694 0 0 1008 0 0 978 0 2 5008 0.000399361
330510 "chr13:20806115:G>C" "GJB6" "NM_001110221:c.-186+218C>G" "FIVE_PRIME_INTRON" "Unknown significance" "rs556318522" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 0 1008 0 1 978 0.001 1 5008 0.000199681
330511 "chr13:20806121:G>A" "GJB6" "NM_001110221:c.-186+212C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs577769591" "This variant is a VUS because it does not have enough information." 1 1322 0.0008 0 1006 0 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
330512 "chr13:20806141:C>A" "GJB6" "NM_001110221:c.-186+192G>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs539241898" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 0 694 0 0 1008 0 1 978 0.001 1 5008 0.000199681
330513 "chr13:20806153:C>T" "GJB6" "NM_001110221:c.-186+180G>A" "FIVE_PRIME_INTRON" "Benign" "rs186599266" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 23 1322 0.0174 0 1006 0 2 694 0.0029 0 1008 0 0 978 0 25 5008 0.00499201
330514 "chr13:20806154:A>T" "GJB6" "NM_001110221:c.-186+179T>A" "FIVE_PRIME_INTRON" "Benign" "rs190992253" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 18 1322 0.0136 0 1006 0 1 694 0.0014 0 1008 0 0 978 0 19 5008 0.00379393
330515 "chr13:20806163:G>A" "GJB6" "NM_001110221:c.-186+170C>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs534280930" "This variant is a VUS because it does not have enough information." 0 1322 0 1 1006 0.001 0 694 0 0 1008 0 0 978 0 1 5008 0.000199681
330516 "chr13:20806202:C>A" "GJB6" "NM_001110221:c.-186+131G>T" "FIVE_PRIME_INTRON" "Unknown significance" "rs542331728" "This variant is a VUS because it does not have enough information."
330517 "chr13:20806235:C>T" "GJB6" "NM_001110221:c.-186+98G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs376197995" "This variant is a VUS because it does not have enough information."
330518 "chr13:20806267:C>T" "GJB6" "NM_001110221:c.-186+66G>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs561159079" "This variant is a VUS because it does not have enough information." 0 1322 0 0 1006 0 2 694 0.0029 2 1008 0.002 0 978 0 4 5008 0.000798722
330519 "chr13:20806272:G>T" "GJB6" "NM_001110221:c.-186+61C>A" "FIVE_PRIME_INTRON" "Unknown significance" "rs370323305" "This variant is a VUS because it does not have enough information."
330520 "chr13:20806287:C>G" "GJB6" "NM_001110221:c.-186+46G>C" "FIVE_PRIME_INTRON" "Unknown significance" "rs375229964" "This variant is a VUS because it does not have enough information."
330521 "chr13:20806316:G>A" "GJB6" "NM_001110221:c.-186+17C>T" "FIVE_PRIME_INTRON" "Benign" "rs140817300" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 31 1322 0.0234 0 1006 0 4 694 0.0058 0 1008 0 0 978 0 35 5008 0.00698882
330522 "chr13:20806360:G>T" "GJB6" "NM_001110221:c.-213C>A" "FIVE_PRIME_EXON" "Benign" "rs144766287" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 83 1322 0.0628 20 1006 0.0199 12 694 0.0173 22 1008 0.0218 62 978 0.0634 199 5008 0.0397364
330523 "chr13:20806398:C>A" "GJB6" "NM_001110221:c.-251G>T" "FIVE_PRIME_EXON" "Unknown significance" "This variant is a VUS because it does not have enough information." 0 400 0 0 320 0 0 320 0 0 400 0 0 360 0 0 200 0 0 2000 0
330524 "chr13:20806445:T>C" "GJB6" "NM_001110221:c.-298A>G" "FIVE_PRIME_EXON" "Benign" "rs117298539" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 75 400 0.1875 10 320 0.03125 18 320 0.05625 23 400 0.0575 17 360 0.0472222 35 200 0.175 178 2000 0.089 154 1322 0.1165 145 1006 0.1441 67 694 0.0965 109 1008 0.1081 164 978 0.1677 639 5008 0.127596
330525 "chr13:20806469:A>C" "GJB6" "NM_001110221:c.-322T>G" "FIVE_PRIME_EXON" "Unknown significance" "This variant is a VUS because it does not have enough information." 0 400 0 0 320 0 0 320 0 0 400 0 0 360 0 0 200 0 0 2000 0
330526 "chr13:20806486:A>C" "GJB6" "NM_001110221:c.-339T>G" "FIVE_PRIME_EXON" "Unknown significance" "This variant is a VUS because it does not have enough information." 0 400 0 0 320 0 0 320 0 1 400 0.0025 0 360 0 0 200 0 1 2000 0.0005
330527 "chr13:20806496:A>C" "GJB6" "NM_001110221:c.-349T>G" "FIVE_PRIME_EXON" "Benign" "This variant contains a MAF in at least one population that meets or exceeds our maximum cutoff of 0.005." 9 400 0.0225 0 320 0 6 320 0.01875 9 400 0.0225 0 360 0 0 200 0 24 2000 0.012