Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
11-10326521-G-A c.-277G>A 5_prime_UTR_premature_start_codon_gain ADM 3 362 0.00828729 181 0 0.0161197
11-10326776-G-GGGTCTGCGCTTCGCAGCCGGGATGAAGCTGGTTTCCGTCGCCCTGAT c.-22+1_-22+2insGTCTGCGCTTCGCAGCCGGGATGAAGCTGGTTTCCGTCGCCCTGATG splice_donor ADM 2 3202 6.2461E-4 1601 1 NA
11-10326924-G-A c.-324G>A 5_prime_UTR_premature_start_codon_gain ADM 12 10380 0.00115607 5190 0 3.50519E-4
11-10327067-C-T c.-181C>T 5_prime_UTR_premature_start_codon_gain ADM 1 40918 2.44391E-5 20459 0 6.37592E-5
11-10327161-C-T c.-87C>T 5_prime_UTR_premature_start_codon_gain ADM 447 77608 0.00575972 38804 1 0.00251737
11-10327168-C-T c.-80C>T 5_prime_UTR_premature_start_codon_gain ADM 1 78100 1.28041E-5 39050 0 NA
11-10327178-G-A c.-70G>A 5_prime_UTR_premature_start_codon_gain ADM 1 78502 1.27385E-5 39251 0 NA
11-10327228-G-A c.-20G>A splice_region ADM 1 82746 1.20852E-5 41373 0 NA
11-10327238-C-T c.-10C>T 5_prime_UTR_premature_start_codon_gain ADM 1 82972 1.20523E-5 41486 0 8.29807E-6
11-10327256-G-A p.Leu3Leu synonymous ADM 3 83200 3.60577E-5 41600 0 0.001875
11-10327263-G-A p.Val6Ile missense ADM 8 83220 9.61307E-5 41610 0 1.27486E-4
11-10327265-C-T c.-570C>T 5_prime_UTR_premature_start_codon_gain ADM 11 83242 1.32145E-4 41621 0 3.82409E-4
11-10327265-C-A p.Val6Val synonymous ADM 2 83242 2.40263E-5 41621 0 NA
11-10327278-C-A p.Leu11Met missense ADM 1 83272 1.20088E-5 41636 0 NA
11-10327287-C-T p.Leu14Phe missense ADM 1 83252 1.20117E-5 41626 0 3.18593E-5
11-10327289-C-A p.Leu14Leu synonymous ADM 1 83254 1.20114E-5 41627 0 7.95627E-6
11-10327298-A-G c.-537A>G 5_prime_UTR_premature_start_codon_gain ADM 5 83262 6.00514E-5 41631 0 3.97776E-5
11-10327299-G-A p.Gly18Ser missense ADM 1 83262 1.20103E-5 41631 0 NA
11-10327302-G-T p.Ala19Ser missense ADM 2 83258 2.40217E-5 41629 0 NA
11-10327317-T-G p.Leu24Val missense ADM 1 83242 1.20132E-5 41621 0 NA
11-10327319-G-A p.Leu24Leu synonymous ADM 1 83254 1.20114E-5 41627 0 7.95684E-6
11-10327320-G-A p.Asp25Asn missense ADM 1 83246 1.20126E-5 41623 0 8.25614E-6
11-10327325-C-G p.Val26Val synonymous ADM 1 83252 1.20117E-5 41626 0 NA
11-10327330-C-G p.Ser28Trp missense ADM 1 83240 1.20135E-5 41620 0 3.97886E-6
11-10327331-G-C p.Ser28Ser synonymous ADM 2 83236 2.40281E-5 41618 0 3.97905E-6
11-10327339-G-A p.Arg31Gln missense ADM 1 83238 1.20137E-5 41619 0 NA
11-10327341-A-G p.Lys32Glu missense ADM 1 83242 1.20132E-5 41621 0 NA
11-10327403-C-T c.-432C>T 5_prime_UTR_premature_start_codon_gain ADM 1 83052 1.20406E-5 41526 0 NA
11-10327447-C-T c.-388C>T 5_prime_UTR_premature_start_codon_gain ADM 2 83092 2.40697E-5 41546 0 3.18695E-5
11-10327463-C-T c.-372C>T 5_prime_UTR_premature_start_codon_gain ADM 5 83126 6.01497E-5 41563 0 1.6533E-5
11-10327502-T-A p.Asn35Lys missense ADM 9 83240 1.08121E-4 41620 0 1.23934E-4
11-10327506-T-C p.Trp37Arg missense ADM 2 83240 2.40269E-5 41620 0 2.47889E-5
11-10327510-C-A p.Ala38Asp missense ADM 1 83244 1.20129E-5 41622 0 NA
11-10327514-G-A p.Leu39Leu synonymous ADM 5 83250 6.00601E-5 41625 0 3.98429E-5
11-10327547-C-G p.Ser50Arg missense ADM 1309 83204 0.0157324 41602 30 0.0417925
11-10327548-A-G p.Ser51Gly missense ADM 1 83212 1.20175E-5 41606 0 NA
11-10327584-C-A p.Pro63Thr missense ADM 1 83166 1.20241E-5 41583 0 NA
11-10327585-C-T p.Pro63Leu missense ADM 1 83168 1.20239E-5 41584 0 7.96502E-6
11-10327586-T-C p.Pro63Pro synonymous ADM 1 83162 1.20247E-5 41581 0 NA
11-10327596-C-T p.Leu67Phe missense ADM 4 83106 4.81313E-5 41553 0 4.14848E-5
11-10327601-T-G p.Ile68Met missense ADM 1 83086 1.20357E-5 41543 0 8.29931E-6
11-10327603-G-A p.Arg69Gln missense ADM 1 83036 1.2043E-5 41518 0 4.78225E-5
11-10327603-G-T p.Arg69Leu missense ADM 1 83036 1.2043E-5 41518 0 NA
11-10327612-A-T p.Asp72Val missense ADM 1 82934 1.20578E-5 41467 0 8.31228E-6
11-10327614-A-G p.Met73Val missense ADM 1 82908 1.20616E-5 41454 0 NA
11-10327615-T-G p.Met73Arg missense ADM 2 82908 2.41231E-5 41454 0 3.19346E-5
11-10327616-G-C p.Met73Ile missense ADM 1 82896 1.20633E-5 41448 0 1.19615E-5
11-10327621-G-A p.Gly75Asp missense ADM 1 82766 1.20823E-5 41383 0 3.18817E-5
11-10327633-G-A p.Ser79Asn missense ADM 1 82374 1.21398E-5 41187 0 NA
11-10327637-C-G p.Pro80Pro synonymous ADM 3 82232 3.64821E-5 41116 0 3.60098E-5
11-10327727-G-T c.-108G>T 5_prime_UTR_premature_start_codon_gain ADM 2 73356 2.72643E-5 36678 0 NA
11-10327814-T-C c.-21T>C 5_prime_UTR_premature_start_codon_gain ADM 1 76012 1.31558E-5 38006 0 1.38807E-5
11-10327838-G-A p.Gly2Arg missense ADM 9 77778 1.15714E-4 38889 0 3.96865E-5
11-10327840-G-A c.249-8G>A splice_region ADM 4 77942 5.13202E-5 38971 0 8.47759E-6
11-10327840-G-T c.249-8G>T splice_region ADM 1 77942 1.28301E-5 38971 0 9.79739E-6
11-10327858-T-TCC p.Ser89fs frameshift ADM 1 78544 1.27317E-5 39272 0 NA
11-10327858-T-TGGGGGG p.Ser87delinsTrpGlyAla disruptive_inframe_insertion ADM 1 78540 1.27324E-5 39270 0 NA
11-10327864-T-TCCCC p.Arg91fs frameshift ADM 1 78532 1.27337E-5 39266 0 1.29383E-4
11-10327864-T-TCCCCCC p.Pro90_Arg91insProPro disruptive_inframe_insertion ADM 13 78478 1.65652E-4 39239 0 2.88623E-4
11-10327864-T-C p.Ser89Pro missense ADM 2 78166 2.55866E-5 39083 0 0.0162176
11-10327864-T-TCCCCCCCCCC p.Arg91fs frameshift ADM 1 78564 1.27285E-5 39282 0 1.14454E-4
11-10327864-T-TCCCCCCCCCCCCCCCCCCCCC p.Pro90_Arg91insProProProProProProPro disruptive_inframe_insertion ADM 1 78580 1.27259E-5 39290 0 NA
11-10327864-TC-T p.Arg91fs frameshift ADM 1 78580 1.27259E-5 39290 0 NA
11-10327866-C-A p.Pro11His missense ADM 1 79070 1.2647E-5 39535 0 NA
11-10327871-G-C p.Arg91Pro missense ADM 2 75122 2.66234E-5 37561 0 0.0800559
11-10327872-C-T p.Ala13Val missense ADM 1 79228 1.26218E-5 39614 0 8.78766E-6
11-10327875-G-C p.Arg14Pro missense ADM 16 77532 2.06366E-4 38766 0 0.0160084
11-10327877-A-C c.249-2A>C splice_acceptor ADM 3 79076 3.79382E-5 39538 0 0.00154473
11-10327877-A-T c.249-2A>T splice_acceptor ADM 1 79314 1.26081E-5 39657 0 9.8705E-6
11-10327878-G-C c.249-1G>C splice_acceptor ADM 4 79148 5.05382E-5 39574 0 6.85475E-4
11-10327884-C-G p.Pro85Arg missense ADM 190 79606 0.00238675 39803 2 0.00558548
11-10327885-G-A p.Gly96Arg missense ADM 3 79612 3.76828E-5 39806 0 NA
11-10327888-T-C p.Cys97Arg missense ADM 1 79696 1.25477E-5 39848 0 6.25E-4
11-10327895-C-G p.Arg89Gly missense ADM 1 79880 1.25188E-5 39940 0 NA
11-10327896-G-T p.Arg89Leu missense ADM 3 79804 3.75921E-5 39902 0 3.35706E-5
11-10327896-G-A p.Arg89His missense ADM 1 79804 1.25307E-5 39902 0 8.57442E-6
11-10327912-C-T p.Arg94Arg synonymous ADM 1 80612 1.24051E-5 40306 0 8.45752E-6
11-10327923-G-C p.Ser98Thr missense ADM 2 81108 2.46585E-5 40554 0 NA
11-10327924-C-A p.Ser98Arg missense ADM 1 81106 1.23295E-5 40553 0 NA
11-10327947-G-C p.Arg106Pro missense ADM 1 81950 1.22026E-5 40975 0 NA
11-10327962-G-A p.Arg111His missense ADM 2 82250 2.43161E-5 41125 0 8.36204E-6
11-10327969-G-A p.Asp124Asn missense ADM 1 82400 1.21359E-5 41200 0 4.01603E-6
11-10327978-G-C p.Gly127Arg missense ADM 3 82498 3.63645E-5 41249 0 2.57053E-4
11-10328008-G-A p.Val137Ile missense ADM 3 82826 3.62205E-5 41413 0 5.04032E-4
11-10328027-G-A p.Asp133Asn missense ADM 3 82762 3.62485E-5 41381 0 2.52198E-5
11-10328033-G-A p.Val135Ile missense ADM 1 82676 1.20954E-5 41338 0 1.43303E-4
11-10328033-G-C p.Val135Leu missense ADM 1 82676 1.20954E-5 41338 0 NA
11-10328044-G-A p.Arg138Arg synonymous ADM 1 82612 1.21048E-5 41306 0 8.04648E-6
11-10328068-C-T p.Tyr146Tyr synonymous ADM 2 82196 2.43321E-5 41098 0 4.13373E-6
11-10328071-C-CCGCCGG p.Arg151_Arg152dup conservative_inframe_insertion ADM 1 82164 1.21708E-5 41082 0 NA
11-10328093-C-A p.Pro155Thr missense ADM 1 81674 1.22438E-5 40837 0 8.94903E-6
11-10328095-C-G p.Pro155Pro synonymous ADM 1 81656 1.22465E-5 40828 0 8.96314E-6
11-10328102-G-A p.Gly158Ser missense ADM 1 81438 1.22793E-5 40719 0 3.57948E-5
11-10328103-G-T p.Gly158Val missense ADM 2 81420 2.4564E-5 40710 0 4.12429E-6
11-10328107-G-T p.Pro159Pro synonymous ADM 28 81510 3.43516E-4 40755 0 0.00251762
11-10328128-T-C p.Ser166Ser synonymous ADM 1 81722 1.22366E-5 40861 0 4.11063E-6
11-10328133-C-G p.Pro168Arg missense ADM 1 81774 1.22288E-5 40887 0 NA
11-10328139-C-T p.Ala170Val missense ADM 2 81744 2.44666E-5 40872 0 4.23144E-6
11-10328143-C-T p.His171His synonymous ADM 1 81682 1.22426E-5 40841 0 NA
11-10328144-G-C p.Gly172Arg missense ADM 1 81666 1.2245E-5 40833 0 8.61891E-6
11-10328150-C-T p.Pro174Ser missense ADM 1 81582 1.22576E-5 40791 0 4.60079E-6
11-10328150-C-G p.Pro174Ala missense ADM 1 81582 1.22576E-5 40791 0 1.8203E-5
11-10328153-G-GC p.Ser178fs frameshift ADM 4 81522 4.90665E-5 40761 0 2.67365E-4
11-10328157-C-A p.Pro176His missense ADM 4 81576 4.9034E-5 40788 0 1.27632E-4
11-10328158-C-G p.Pro176Pro synonymous ADM 5 81566 6.13001E-5 40783 0 4.85559E-5
11-10328159-C-G p.Pro177Ala missense ADM 5 81572 6.12955E-5 40786 0 1.754E-4
11-10328159-C-A p.Pro177Thr missense ADM 1 81572 1.22591E-5 40786 0 NA
11-10328163-G-A p.Ser178Asn missense ADM 2 81510 2.45369E-5 40755 0 3.18959E-5
11-10328179-C-A p.His183Gln missense ADM 1 81334 1.2295E-5 40667 0 NA
11-10328198-G-A c.*7+3G>A splice_region ADM 1 81222 1.23119E-5 40611 0 NA
11-10328309-T-C c.*8-8T>C splice_region ADM 1 74616 1.3402E-5 37308 0 NA
11-10328309-T-G c.*8-8T>G splice_region ADM 1 74616 1.3402E-5 37308 0 NA
11-10328314-G-C c.*8-3G>C splice_region ADM 1 73912 1.35296E-5 36956 0 NA
11-10328317-G-A c.*8G>A splice_region ADM 1 72994 1.36998E-5 36497 0 NA
11-10328454-G-T c.*145G>T splice_region ADM 1 52712 1.8971E-5 26356 0 NA
11-10328909-T-C c.*721T>C splice_region ADM 1 44042 2.27056E-5 22021 0 NA
11-10328942-T-A c.*754T>A splice_region ADM 1 41538 2.40743E-5 20769 0 NA