Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
6-111195987-C-G c.-449C>G 5_prime_UTR_premature_start_codon_gain AMD1 1 6000 1.66667E-4 3000 0 NA
6-111196024-C-G c.-285C>G 5_prime_UTR_premature_start_codon_gain AMD1 1 8818 1.13404E-4 4409 0 3.18613E-5
6-111196030-A-G c.-279A>G 5_prime_UTR_premature_start_codon_gain AMD1 4 10200 3.92157E-4 5100 0 6.39182E-5
6-111196037-C-G c.-272C>G 5_prime_UTR_premature_start_codon_gain AMD1 70 11598 0.00603552 5799 0 0.00477829
6-111196085-A-G c.-224A>G 5_prime_UTR_premature_start_codon_gain AMD1 8 25850 3.09478E-4 12925 0 3.50788E-4
6-111196168-A-G c.-141A>G 5_prime_UTR_premature_start_codon_gain AMD1 3 65746 4.56302E-5 32873 0 3.20041E-5
6-111196195-C-T c.-114C>T 5_prime_UTR_premature_start_codon_gain AMD1 2 73024 2.73883E-5 36512 0 NA
6-111196212-A-T c.-97A>T 5_prime_UTR_premature_start_codon_gain AMD1 1 77580 1.28899E-5 38790 0 NA
6-111196304-C-T c.-5C>T 5_prime_UTR_premature_start_codon_gain AMD1 2 81662 2.44912E-5 40831 0 2.3504E-5
6-111196321-C-G p.His5Asp missense AMD1 1 81906 1.22091E-5 40953 0 NA
6-111196322-A-C p.His5Pro missense AMD1 3 81884 3.66372E-5 40942 0 NA
6-111196335-G-A p.Gly9Gly synonymous AMD1 5 81950 6.10128E-5 40975 0 3.2041E-5
6-111196353-G-A p.Glu15Glu synonymous AMD1 2 81826 2.44421E-5 40913 0 6.38529E-5
6-111196364-C-T p.Ser19Phe missense AMD1 1 81488 1.22717E-5 40744 0 1.98318E-5
6-111196376-C-A p.Pro23His missense AMD1 2 81368 2.45797E-5 40684 0 NA
6-111196387-C-G p.Gln27Glu missense AMD1 1 81280 1.23031E-5 40640 0 8.1082E-5
6-111196391-G-T p.Gly28Val missense AMD1 2 81172 2.4639E-5 40586 0 NA
6-111196391-G-A p.Gly28Glu missense AMD1 1 81172 1.23195E-5 40586 0 NA
6-111196397-G-A p.Gly30Glu missense AMD1 2 81052 2.46755E-5 40526 0 4.10509E-6
6-111196413-C-A p.Ile35Ile synonymous AMD1 1 80396 1.24384E-5 40198 0 NA
6-111196416-A-G p.Pro36Pro splice_region+synonymous AMD1 1 80260 1.24595E-5 40130 0 1.54442E-4
6-111196425-C-T c.110+7C>T splice_region AMD1 9 79932 1.12596E-4 39966 0 2.55428E-4
6-111196426-C-A c.110+8C>A splice_region AMD1 6 79890 7.51033E-5 39945 0 1.59632E-4
6-111208705-T-C c.-97-3T>C splice_region AMD1 3 82894 3.61908E-5 41447 0 NA
6-111208738-G-A p.Val47Val synonymous AMD1 1 83226 1.20155E-5 41613 0 NA
6-111208741-A-G p.Gln48Gln synonymous AMD1 2 83234 2.40286E-5 41617 0 6.36821E-5
6-111208746-C-T p.Ser50Leu missense AMD1 1 83222 1.20161E-5 41611 0 NA
6-111208751-A-G p.Ile52Val missense AMD1 2 83218 2.40333E-5 41609 0 NA
6-111208801-C-T c.-11+7C>T splice_region AMD1 13 83168 1.5631E-4 41584 0 8.74745E-6
6-111208802-C-T c.-11+8C>T splice_region AMD1 1 83164 1.20244E-5 41582 0 NA
6-111210063-G-A p.Glu38Glu synonymous AMD1 1 82132 1.21755E-5 41066 0 7.9804E-6
6-111210098-T-TCTA p.Leu10delinsPheTer stop_gained AMD1 1 82940 1.20569E-5 41470 0 NA
6-111210157-A-G p.Arg30Gly missense AMD1 1 83224 1.20158E-5 41612 0 NA
6-111210176-A-T p.Asp36Val missense AMD1 1 83192 1.20204E-5 41596 0 NA
6-111210186-A-AAGCTTCTTTTATTCTC c.117_117+1insAGCTTCTTTTATTCTC splice_donor AMD1 1 83160 1.2025E-5 41580 0 NA
6-111211449-T-C c.118-8T>C splice_region AMD1 3 81934 3.66148E-5 40967 0 6.37227E-5
6-111211533-T-C p.Ile65Thr missense AMD1 11 82446 1.33421E-4 41223 0 3.18796E-5
6-111211537-G-A p.Glu66Glu synonymous AMD1 2 82408 2.42695E-5 41204 0 8.46618E-6
6-111211548-C-T p.Ala70Val missense AMD1 1 82308 1.21495E-5 41154 0 NA
6-111213359-A-G c.221-5A>G splice_region AMD1 1 83276 1.20083E-5 41638 0 NA
6-111213387-C-T p.Arg82Cys missense AMD1 1 83302 1.20045E-5 41651 0 NA
6-111213388-G-A p.Arg82His missense AMD1 1 83306 1.20039E-5 41653 0 3.18431E-5
6-111213405-TGGTATGTTTAATGCAATTTTGTGGATTTTTGTTGTCCTATGTAAGATTTAAACTGCCAATTGTCATTTTTAGGAACTATTTTTAATTTTTATTTA-T p.Trp88fs frameshift AMD1 1 83336 1.19996E-5 41668 0 8.23696E-6
6-111213410-T-C c.263+4T>C splice_region AMD1 8 83336 9.59969E-5 41668 0 3.1839E-5
6-111213505-C-T p.Tyr89Tyr synonymous AMD1 2 83264 2.402E-5 41632 0 2.22868E-4
6-111213508-A-G p.Leu90Leu synonymous AMD1 1 83276 1.20083E-5 41638 0 NA
6-111213525-C-A p.Pro96Gln missense AMD1 1 83232 1.20146E-5 41616 0 NA
6-111213548-C-G p.Pro104Ala missense AMD1 1 83166 1.20241E-5 41583 0 NA
6-111213576-G-T p.Ser113Ile missense AMD1 1 82984 1.20505E-5 41492 0 NA
6-111213591-C-A p.Ala118Glu missense AMD1 3 82854 3.62083E-5 41427 0 1.97762E-4
6-111213613-G-T p.Met125Ile missense AMD1 1 82522 1.2118E-5 41261 0 NA
6-111213630-C-T p.Ala131Val missense AMD1 1 82288 1.21524E-5 41144 0 NA
6-111213644-C-T p.Arg136Cys missense+splice_region AMD1 1 82054 1.21871E-5 41027 0 7.19424E-4
6-111213647-G-GAGAGTGGAATTCGTGACCTGA c.408+1_408+2insAGAGTGGAATTCGTGACCTGA splice_donor AMD1 1 81986 1.21972E-5 40993 0 1.65063E-5
6-111213652-C-T c.408+6C>T splice_region AMD1 1 81856 1.22166E-5 40928 0 NA
6-111213653-A-G c.408+7A>G splice_region AMD1 1 81840 1.2219E-5 40920 0 8.25846E-6
6-111213929-C-CT c.409-9_409-8insT splice_region AMD1 8 82788 9.66324E-5 41394 0 1.7339E-4
6-111213929-C-CG c.409-9_409-8insG splice_region AMD1 17 82788 2.05344E-4 41394 0 1.31817E-4
6-111213930-C-CG c.409-8_409-7insG splice_region AMD1 4 82812 4.83022E-5 41406 0 NA
6-111213931-C-CCA c.409-7_409-6insCA splice_region AMD1 4 82846 4.82824E-5 41423 0 1.1964E-5
6-111213932-C-CCA c.409-6_409-5insCA splice_region AMD1 1 82868 1.20674E-5 41434 0 8.2526E-6
6-111213932-C-CT c.409-6_409-5insT splice_region AMD1 2 82868 2.41348E-5 41434 0 NA
6-111213932-C-CG c.409-6_409-5insG splice_region AMD1 1 82868 1.20674E-5 41434 0 6.60208E-5
6-111213933-C-CCA c.409-5_409-4insCA splice_region AMD1 22 82892 2.65406E-4 41446 0 9.55414E-5
6-111213933-C-CCG c.409-5_409-4insCG splice_region AMD1 1 82892 1.20639E-5 41446 0 8.25014E-6
6-111213933-C-CT c.409-5_409-4insT splice_region AMD1 4 82892 4.82556E-5 41446 0 1.99045E-5
6-111213933-C-A c.409-5C>A splice_region AMD1 2 82892 2.41278E-5 41446 0 3.1904E-5
6-111213933-C-CG c.409-5_409-4insG splice_region AMD1 3 82892 3.61917E-5 41446 0 1.99045E-4
6-111213933-C-CA c.409-5_409-4insA splice_region AMD1 1 82892 1.20639E-5 41446 0 6.38081E-5
6-111213934-C-CG c.409-4_409-3insG splice_region AMD1 2 82908 2.41231E-5 41454 0 3.98425E-5
6-111213934-C-CCG c.409-4_409-3insCG splice_region AMD1 4 82908 4.82462E-5 41454 0 1.99213E-5
6-111213935-C-CA c.409-3_409-2insA splice_acceptor AMD1 3 82916 3.61812E-5 41458 0 NA
6-111213935-C-CCG c.409-3_409-2insCG splice_acceptor AMD1 2 82916 2.41208E-5 41458 0 8.24919E-6
6-111213950-C-T p.Arg141Cys missense AMD1 4 83146 4.81081E-5 41573 0 1.1933E-5
6-111213951-G-A p.Arg141His missense AMD1 1 83152 1.20262E-5 41576 0 1.64935E-5
6-111213971-G-T p.Val148Phe missense AMD1 1 83284 1.20071E-5 41642 0 NA
6-111213982-C-T p.Ala151Ala synonymous AMD1 5 83322 6.00082E-5 41661 0 0.00100806
6-111213986-A-G p.Met153Val missense AMD1 1 83326 1.20011E-5 41663 0 3.1837E-5
6-111214000-T-C p.Cys157Cys synonymous AMD1 2 83326 2.40021E-5 41663 0 3.18471E-5
6-111214021-G-A p.Met164Ile missense AMD1 1 83326 1.20011E-5 41663 0 NA
6-111214030-TGTGAGTAGTTATATATTGCTTCAATAATTATTTAAATGTGAATAGTCTTTCCATTCTTAACACTGTGAACTTTTTCTCTCAG-T p.Ser2fs frameshift AMD1 8 83320 9.60154E-5 41660 1 NA
6-111214066-ATG-A c.4-9_4-8delTG splice_region AMD1 1 83280 1.20077E-5 41640 0 NA
6-111214069-T-G c.4-7T>G splice_region AMD1 1 83278 1.2008E-5 41639 0 NA
6-111214069-T-A c.4-7T>A splice_region AMD1 1 83278 1.2008E-5 41639 0 NA
6-111214080-T-C p.Phe3Ser missense AMD1 1 83248 1.20123E-5 41624 0 7.96794E-6
6-111214081-C-T p.Phe3Phe synonymous AMD1 1 83240 1.20135E-5 41620 0 8.26241E-6
6-111214083-A-G p.His4Arg missense AMD1 4 83238 4.8055E-5 41619 0 NA
6-111214084-T-G p.His4Gln missense AMD1 1 83234 1.20143E-5 41617 0 3.1902E-5
6-111214117-C-T p.Thr169Ile missense AMD1 3 83214 3.60516E-5 41607 0 3.18492E-5
6-111214121-T-C p.Tyr170Tyr synonymous AMD1 2 83200 2.40385E-5 41600 0 3.1839E-5
6-111214159-A-G p.Tyr183Cys missense AMD1 2 83000 2.40964E-5 41500 0 NA
6-111214160-T-C p.Tyr183Tyr synonymous AMD1 6 82994 7.22944E-5 41497 0 9.5511E-5
6-111214175-A-C p.Thr188Thr synonymous AMD1 4 82752 4.83372E-5 41376 0 NA
6-111214193-C-G p.Ser194Ser synonymous AMD1 3 82298 3.64529E-5 41149 0 7.97964E-6
6-111214208-C-G p.Ile199Met missense AMD1 1 81704 1.22393E-5 40852 0 NA
6-111214209-A-G p.Arg200Gly missense AMD1 2 81642 2.44972E-5 40821 0 3.99489E-6
6-111214229-C-T p.Phe206Phe synonymous AMD1 1 80500 1.24224E-5 40250 0 NA
6-111214240-A-G p.Lys210Arg missense AMD1 10 79828 1.25269E-4 39914 0 1.2468E-4
6-111214253-C-A p.Thr214Thr synonymous AMD1 1 78734 1.2701E-5 39367 0 6.25782E-4
6-111214271-A-G c.657+3A>G splice_region AMD1 15 75290 1.9923E-4 37645 0 1.59236E-4
6-111214680-G-C p.Ser220Thr missense+splice_region AMD1 1 81660 1.22459E-5 40830 0 8.25382E-6
6-111214691-C-T p.Arg224Cys missense AMD1 1 81688 1.22417E-5 40844 0 3.18431E-5
6-111214696-A-G p.Thr225Thr synonymous AMD1 1 81728 1.22357E-5 40864 0 5.39374E-4
6-111214697-G-A p.Val226Met missense AMD1 2 81730 2.44708E-5 40865 0 NA
6-111214708-G-C p.Ser229Ser synonymous AMD1 2 81688 2.44834E-5 40844 0 3.98769E-6
6-111214723-A-G p.Glu234Glu synonymous AMD1 1 81850 1.22175E-5 40925 0 7.97226E-6
6-111214724-G-C p.Gly235Arg missense AMD1 1 81870 1.22145E-5 40935 0 NA
6-111214734-G-A p.Arg238His missense AMD1 6 81988 7.31814E-5 40994 0 3.98689E-6
6-111214734-G-C p.Arg238Pro missense AMD1 3 81988 3.65907E-5 40994 0 1.65079E-5
6-111214744-C-T p.Cys241Cys synonymous AMD1 1 82098 1.21806E-5 41049 0 NA
6-111214747-G-A p.Gln242Gln synonymous AMD1 1 82170 1.21699E-5 41085 0 3.58766E-5
6-111214753-T-C p.Ala244Ala synonymous AMD1 6 82232 7.29643E-5 41116 0 3.18431E-5
6-111214754-A-G p.Met245Val missense AMD1 2 82264 2.4312E-5 41132 0 0.00151668
6-111214763-G-A p.Asp248Asn missense AMD1 1 82402 1.21356E-5 41201 0 4.38537E-5
6-111214770-A-G p.Asn250Ser missense AMD1 3 82464 3.63795E-5 41232 0 NA
6-111214782-C-T p.Thr254Ile missense AMD1 2 82492 2.42448E-5 41246 0 8.26624E-6
6-111214784-A-AAGCCAGGAAAATTT p.Ser255fs frameshift AMD1 2 82508 2.42401E-5 41254 1 NA
6-111214791-C-G p.Ala257Gly missense AMD1 13 82516 1.57545E-4 41258 0 8.2702E-5
6-111214796-A-C p.Lys259Gln missense AMD1 5 82570 6.05547E-5 41285 0 6.3678E-5
6-111214808-C-T p.Gln263* stop_gained AMD1 1 82644 1.21001E-5 41322 0 8.28789E-6
6-111214815-GTTGA-G p.Ter266fs frameshift AMD1 2 82604 2.42119E-5 41302 0 NA
6-111215260-TACATCCAGTTA-T c.*761_*1181delACATCCAGTTA splice_region AMD1 1 44782 2.23304E-5 22391 0 NA