Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
1-26648456-G-C n.467C>G splice_region AIM1L 3 82674 3.62871E-5 41337 0 6.32085E-5
1-26648460-C-T p.Ter617Ter stop_retained AIM1L 8 82720 9.67118E-5 41360 0 5.93824E-5
1-26648467-C-T p.Val615Met missense AIM1L 7 82830 8.45104E-5 41415 0 3.18613E-5
1-26648468-G-A p.His614His synonymous AIM1L 6 82848 7.24218E-5 41424 0 0.00100806
1-26648472-A-G p.Ile613Thr missense AIM1L 3 82890 3.61925E-5 41445 0 NA
1-26648480-G-C p.Ile610Met missense AIM1L 109 82952 0.00131401 41476 1 0.00350385
1-26648481-A-G p.Ile610Thr missense AIM1L 1 82952 1.20552E-5 41476 0 4.11726E-6
1-26648493-C-T p.Arg606Lys missense AIM1L 3 83020 3.61359E-5 41510 0 3.18512E-5
1-26648504-C-A p.Pro602Pro synonymous AIM1L 1 83080 1.20366E-5 41540 0 NA
1-26648506-G-A p.Pro602Ser missense AIM1L 3 83070 3.61141E-5 41535 0 NA
1-26648513-T-C p.Leu599Leu synonymous AIM1L 2 83094 2.40691E-5 41547 0 8.01064E-6
1-26648521-C-T p.Val597Met missense AIM1L 1 83104 1.20331E-5 41552 0 1.60106E-5
1-26648526-T-TC p.Asp595fs frameshift AIM1L 2 83062 2.40784E-5 41531 0 1.19987E-5
1-26648529-C-T p.Arg594Gln missense AIM1L 1 83072 1.20378E-5 41536 0 4.00054E-6
1-26648530-G-A p.Arg594Trp missense AIM1L 136 83064 0.00163729 41532 0 0.00102008
1-26648533-C-T p.Asp593Asn missense AIM1L 2 83068 2.40767E-5 41534 0 5.88839E-5
1-26648534-G-A p.Tyr592Tyr synonymous AIM1L 632 83046 0.00761024 41523 14 0.0155852
1-26648534-G-C p.Tyr592* stop_gained AIM1L 1 83072 1.20378E-5 41536 0 NA
1-26648535-T-C p.Tyr592Cys missense AIM1L 1 83090 1.20351E-5 41545 0 NA
1-26648536-A-G p.Tyr592His missense AIM1L 4 83088 4.81417E-5 41544 0 3.18776E-5
1-26648537-GC-G p.Gly591fs frameshift AIM1L 12 83094 1.44415E-4 41547 0 1.31957E-4
1-26648541-C-G p.Arg590Pro missense AIM1L 4 83082 4.81452E-5 41541 0 6.37267E-5
1-26648541-C-T p.Arg590Gln missense AIM1L 1 83082 1.20363E-5 41541 0 6.25E-4
1-26648542-G-A p.Arg590Trp missense AIM1L 5 83044 6.0209E-5 41522 0 2.50167E-5
1-26648550-G-T c.1763-3C>A splice_region AIM1L 3 83004 3.61428E-5 41502 0 3.1902E-5
1-26648550-GG-TC c.1763-4_1763-3delCCinsGA splice_region AIM1L 2 83004 2.40952E-5 41502 0 NA
1-26648551-G-C c.1763-4C>G splice_region AIM1L 55168 79584 0.693205 39792 19311 0.693125
1-26648551-G-T c.1763-4C>A splice_region AIM1L 1 82992 1.20494E-5 41496 0 4.01056E-6
1-26648647-C-T c.1762+8G>A splice_region AIM1L 1 83210 1.20178E-5 41605 0 1.65645E-5
1-26648657-T-C p.Lys587Arg missense+splice_region AIM1L 2 83168 2.40477E-5 41584 0 0.001875
1-26648662-G-A p.Asp585Asp synonymous AIM1L 3 83162 3.60742E-5 41581 0 3.30589E-5
1-26648680-G-A p.Phe579Phe synonymous AIM1L 236 83166 0.0028377 41583 0 0.00855992
1-26648684-A-G p.Met578Thr missense AIM1L 7 83178 8.41569E-5 41589 0 1.59205E-4
1-26648689-G-A p.Ser576Ser synonymous AIM1L 2 83164 2.40489E-5 41582 0 NA
1-26648693-C-T p.Cys575Tyr missense AIM1L 1 83148 1.20267E-5 41574 0 NA
1-26648704-C-T p.Ser571Ser synonymous AIM1L 1 83110 1.20322E-5 41555 0 1.64853E-5
1-26648705-G-A p.Ser571Leu missense AIM1L 599 83104 0.00720784 41552 13 0.0157026
1-26648705-GAT-G p.Glu570fs frameshift AIM1L 1 83122 1.20305E-5 41561 0 3.18512E-5
1-26648721-A-C p.Trp566Gly missense AIM1L 1 83086 1.20357E-5 41543 0 3.97725E-6
1-26648725-C-T p.Gln564Gln synonymous AIM1L 13 83096 1.56446E-4 41548 0 5.09781E-4
1-26648728-G-A p.Arg563Arg synonymous AIM1L 1 83070 1.2038E-5 41535 0 NA
1-26648729-C-G p.Arg563Pro missense AIM1L 3 83048 3.61237E-5 41524 0 2.38722E-5
1-26648729-C-T p.Arg563His missense AIM1L 1 83048 1.20412E-5 41524 0 6.37227E-5
1-26648730-G-A p.Arg563Cys missense AIM1L 3 83018 3.61367E-5 41509 0 8.24552E-5
1-26648732-G-A p.Pro562Leu missense AIM1L 1 83006 1.20473E-5 41503 0 9.89462E-5
1-26648734-C-G p.Leu561Leu synonymous AIM1L 1 83014 1.20462E-5 41507 0 NA
1-26648738-C-T p.Arg560His missense AIM1L 8 82894 9.65088E-5 41447 0 4.12609E-5
1-26648739-G-A p.Arg560Cys missense AIM1L 2 82926 2.41179E-5 41463 0 NA
1-26648743-C-A p.Glu558Asp missense AIM1L 29 82918 3.49743E-4 41459 0 0.003125
1-26648743-C-T p.Glu558Glu synonymous AIM1L 1 82918 1.20601E-5 41459 0 3.18573E-5
1-26648745-C-T p.Glu558Lys missense AIM1L 6 82898 7.23781E-5 41449 0 1.27445E-4
1-26648762-T-C p.Lys552Arg missense AIM1L 1 82888 1.20645E-5 41444 0 NA
1-26648767-G-A p.Gly550Gly synonymous AIM1L 3 82888 3.61934E-5 41444 0 1.65766E-5
1-26648768-C-A p.Gly550Val missense AIM1L 2 82874 2.4133E-5 41437 0 1.6578E-5
1-26648770-T-C p.Pro549Pro synonymous AIM1L 1 82884 1.20651E-5 41442 0 8.29352E-6
1-26648782-T-A p.Gly545Gly synonymous AIM1L 2 82814 2.41505E-5 41407 0 NA
1-26648792-TG-T p.Gln542fs frameshift AIM1L 1 82782 1.20799E-5 41391 0 4.0017E-6
1-26648795-A-G p.Leu541Pro missense AIM1L 1 82706 1.2091E-5 41353 0 NA
1-26648798-C-A p.Ser540Ile missense AIM1L 1 82658 1.2098E-5 41329 0 NA
1-26648798-C-G p.Ser540Thr missense AIM1L 1 82658 1.2098E-5 41329 0 NA
1-26648801-A-G p.Met539Thr missense AIM1L 1 82552 1.21136E-5 41276 0 1.67932E-5
1-26648802-T-C p.Met539Val missense AIM1L 4 82536 4.84637E-5 41268 0 1.59337E-4
1-26648814-T-C p.Met535Val missense+splice_region AIM1L 1 82256 1.21572E-5 41128 0 3.38284E-5
1-26650636-T-G c.1602+7A>C splice_region AIM1L 1 82568 1.21112E-5 41284 0 7.99744E-6
1-26650637-C-G c.1602+6G>C splice_region AIM1L 1 82592 1.21077E-5 41296 0 NA
1-26650645-G-C p.Gln534Glu missense+splice_region AIM1L 5 82692 6.04653E-5 41346 0 8.34962E-5
1-26650654-G-A p.Leu531Leu synonymous AIM1L 1 82774 1.20811E-5 41387 0 4.15614E-5
1-26650661-A-G p.Asp528Asp synonymous AIM1L 3542 82640 0.0428606 41320 107 0.08875
1-26650663-C-T p.Asp528Asn missense AIM1L 1 82882 1.20653E-5 41441 0 3.18552E-5
1-26650666-C-T p.Glu527Lys missense AIM1L 1 82862 1.20683E-5 41431 0 1.9927E-5
1-26650667-G-A p.Tyr526Tyr synonymous AIM1L 4 82874 4.8266E-5 41437 0 6.25E-4
1-26650667-G-C p.Tyr526* stop_gained AIM1L 3 82874 3.61995E-5 41437 0 1.57165E-4
1-26650677-A-G p.Ile523Thr missense AIM1L 1 82910 1.20613E-5 41455 0 3.98356E-6
1-26650681-A-G p.Cys522Arg missense AIM1L 2 82890 2.41284E-5 41445 0 6.37511E-5
1-26650682-G-A p.Ser521Ser synonymous AIM1L 1 82892 1.20639E-5 41446 0 9.56389E-5
1-26650694-T-C p.Gln517Gln synonymous AIM1L 1 82854 1.20694E-5 41427 0 1.65131E-5
1-26650696-G-A p.Gln517* stop_gained AIM1L 3 82838 3.62153E-5 41419 0 NA
1-26650698-G-A p.Pro516Leu missense AIM1L 7 82808 8.45329E-5 41404 0 4.95352E-5
1-26650703-G-A p.Ala514Ala synonymous AIM1L 1 82642 1.21004E-5 41321 0 5.03525E-4
1-26650706-G-A p.Val513Val synonymous AIM1L 14 82636 1.69418E-4 41318 0 1.07851E-4
1-26650711-C-G p.Val512Leu missense AIM1L 152 82716 0.00183761 41358 1 0.001875
1-26650712-C-A p.Val511Val synonymous AIM1L 1 82734 1.20869E-5 41367 0 NA
1-26650715-A-G p.Arg510Arg synonymous AIM1L 1 82722 1.20887E-5 41361 0 NA
1-26650717-G-A p.Arg510Cys missense AIM1L 2 82694 2.41856E-5 41347 0 4.9545E-5
1-26650723-C-T p.Ala508Thr missense AIM1L 1 82792 1.20785E-5 41396 0 NA
1-26650730-G-A p.Asp505Asp synonymous AIM1L 1 82796 1.20779E-5 41398 0 1.6527E-5
1-26650745-C-T p.Pro500Pro synonymous AIM1L 3 82748 3.62547E-5 41374 0 4.14356E-4
1-26650746-G-A p.Pro500Leu missense AIM1L 2 82746 2.41704E-5 41373 0 0.00100705
1-26650760-T-TC p.Phe496fs frameshift AIM1L 1 82700 1.20919E-5 41350 0 NA
1-26650763-C-T p.Gly494Gly synonymous AIM1L 1 82728 1.20878E-5 41364 0 8.35338E-6
1-26650768-G-A p.Leu493Leu synonymous AIM1L 5 82720 6.04449E-5 41360 0 4.19245E-5
1-26650772-T-C p.Ala491Ala synonymous AIM1L 3 82694 3.62783E-5 41347 0 0.00146628
1-26650779-C-T p.Trp489* stop_gained AIM1L 1 82672 1.2096E-5 41336 0 NA
1-26650782-A-G p.Leu488Pro missense AIM1L 1 82616 1.21042E-5 41308 0 NA
1-26650784-G-A p.Arg487Arg synonymous AIM1L 4 82568 4.84449E-5 41284 0 4.05824E-6
1-26650785-C-T p.Arg487His missense AIM1L 1 82548 1.21142E-5 41274 0 3.18756E-5
1-26650786-G-A p.Arg487Cys missense AIM1L 48 82556 5.81424E-4 41278 0 0.00151057
1-26650794-A-G p.Val484Ala missense AIM1L 1 82426 1.21321E-5 41213 0 3.1904E-5
1-26650795-C-A p.Val484Phe missense AIM1L 1 82444 1.21294E-5 41222 0 NA
1-26650797-C-T p.Arg483Gln missense AIM1L 6 82394 7.28208E-5 41197 0 1.45174E-4
1-26650798-G-A p.Arg483Trp missense AIM1L 6 82368 7.28438E-5 41184 0 2.89932E-5
1-26650800-C-T p.Arg482His missense+splice_region AIM1L 10 82250 1.21581E-4 41125 0 0.0010101
1-26650801-G-A p.Arg482Cys missense+splice_region AIM1L 1 82214 1.21634E-5 41107 0 3.0192E-4
1-26650804-G-A c.1444-3C>T splice_region AIM1L 1 82196 1.2166E-5 41098 0 NA
1-26650807-G-A c.1444-6C>T splice_region AIM1L 14 82086 1.70553E-4 41043 0 1.38419E-4
1-26650809-C-T c.1444-8G>A splice_region AIM1L 1 81990 1.21966E-5 40995 0 3.18735E-5
1-26654697-C-T c.1443+3G>A splice_region AIM1L 1 80072 1.24888E-5 40036 0 NA
1-26654699-C-G c.1443+1G>C splice_donor AIM1L 1 80126 1.24803E-5 40063 0 NA
1-26654703-C-T p.Lys480Lys synonymous AIM1L 147 80216 0.00183255 40108 5 0.00234456
1-26654713-T-C p.Tyr477Cys missense AIM1L 2 80390 2.48787E-5 40195 0 NA
1-26654715-G-C p.Leu476Leu synonymous AIM1L 1 80498 1.24227E-5 40249 0 NA
1-26654720-A-C p.Ser475Ala missense AIM1L 3 80584 3.72282E-5 40292 0 1.27119E-4
1-26654722-C-A p.Gly474Val missense AIM1L 1 80624 1.24033E-5 40312 0 NA
1-26654723-C-T p.Gly474Ser missense AIM1L 1 80664 1.23971E-5 40332 0 NA
1-26654732-G-A p.Gln471* stop_gained AIM1L 1 80816 1.23738E-5 40408 0 5.78483E-6
1-26654738-C-T p.Gly469Ser missense AIM1L 1 80882 1.23637E-5 40441 0 3.19081E-5
1-26654739-G-A p.Ser468Ser synonymous AIM1L 13 80902 1.60688E-4 40451 0 0.00316456
1-26654744-A-T p.Tyr467Asn missense AIM1L 1 81006 1.23448E-5 40503 0 NA
1-26654751-C-T p.Trp464* stop_gained AIM1L 3 81078 3.70014E-5 40539 1 6.37674E-5
1-26654758-G-T p.Thr462Asn missense AIM1L 1 81090 1.2332E-5 40545 0 3.18796E-5
1-26654777-C-G p.Val456Leu missense AIM1L 2 81236 2.46196E-5 40618 0 1.0879E-5
1-26654785-T-C p.Gln453Arg missense AIM1L 1 81224 1.23116E-5 40612 0 NA
1-26654788-C-T p.Arg452His missense AIM1L 16 81246 1.96933E-4 40623 0 0.00518672
1-26654788-C-A p.Arg452Leu missense AIM1L 1 81246 1.23083E-5 40623 0 2.55086E-4
1-26654789-G-A p.Arg452Cys missense AIM1L 3 81218 3.69376E-5 40609 0 7.42446E-5
1-26654792-C-T p.Gly451Ser missense AIM1L 1 81236 1.23098E-5 40618 0 NA
1-26654794-C-T p.Arg450Gln missense AIM1L 2 81210 2.46275E-5 40605 0 5.41882E-6
1-26654795-G-A p.Arg450Trp missense AIM1L 3 81184 3.69531E-5 40592 0 3.18735E-5
1-26654809-TC-T p.Glu445fs frameshift AIM1L 1 81166 1.23204E-5 40583 0 NA
1-26654813-A-G p.Cys444Arg missense AIM1L 2 81178 2.46372E-5 40589 0 NA
1-26654826-G-A c.1320-3C>T splice_region AIM1L 1 80956 1.23524E-5 40478 0 NA
1-26654827-G-A c.1320-4C>T splice_region AIM1L 2 80952 2.4706E-5 40476 0 3.18674E-5
1-26654830-C-T c.1320-7G>A splice_region AIM1L 101 80890 0.00124861 40445 0 0.00235819
1-26654831-C-A c.1320-8G>T splice_region AIM1L 1 80910 1.23594E-5 40455 0 1.1408E-5
1-26655100-T-C n.554A>G splice_region AIM1L 1 78110 1.28025E-5 39055 0 3.19183E-5
1-26655237-A-G p.Ile436Thr missense AIM1L 2 82796 2.41558E-5 41398 0 8.24117E-6
1-26655238-T-G p.Ile436Leu missense AIM1L 1 82798 1.20776E-5 41399 0 1.99102E-5
1-26655238-T-C p.Ile436Val missense AIM1L 1 82798 1.20776E-5 41399 0 NA
1-26655241-G-A p.Arg435Trp missense AIM1L 3 82818 3.6224E-5 41409 0 1.64791E-5
1-26655259-T-G p.Asn429His missense AIM1L 1 82860 1.20685E-5 41430 0 NA
1-26655266-G-C p.Gly426Gly synonymous AIM1L 100 82868 0.00120674 41434 1 0.00306103
1-26655269-C-T p.Glu425Glu synonymous AIM1L 1 82906 1.20619E-5 41453 0 8.23696E-6
1-26655271-C-T p.Glu425Lys missense AIM1L 3 82890 3.61925E-5 41445 0 7.95463E-6
1-26655272-G-A p.Ala424Ala synonymous AIM1L 3 82874 3.61995E-5 41437 0 2.47113E-5
1-26655286-G-A p.Arg420Trp missense AIM1L 2 82842 2.41423E-5 41421 0 3.18918E-5
1-26655289-C-T p.Val419Met missense AIM1L 1 82846 1.20706E-5 41423 0 NA
1-26655301-G-A p.Leu415Phe missense AIM1L 1 82874 1.20665E-5 41437 0 4.37456E-5
1-26655304-C-G p.Glu414Gln missense AIM1L 128 82860 0.00154477 41430 0 7.6756E-4
1-26655305-G-A p.Ile413Ile synonymous AIM1L 1 82868 1.20674E-5 41434 0 0.00100908
1-26655316-C-T p.Gly410Arg missense AIM1L 2 82882 2.41307E-5 41441 0 NA
1-26655319-C-G p.Glu409Gln missense AIM1L 130 82850 0.0015691 41425 0 0.00146628
1-26655327-T-G p.Glu406Ala missense AIM1L 2 82870 2.41342E-5 41435 0 1.64764E-5
1-26655329-G-A p.Leu405Leu synonymous AIM1L 2 82834 2.41447E-5 41417 0 6.37633E-5
1-26655339-A-C p.Leu402Arg missense AIM1L 1 82774 1.20811E-5 41387 0 NA
1-26655348-G-A p.Ser399Phe missense AIM1L 1 82700 1.20919E-5 41350 0 3.97867E-6
1-26655348-G-C p.Ser399Cys missense AIM1L 1 82700 1.20919E-5 41350 0 1.1936E-5
1-26655352-G-T p.Pro398Thr missense AIM1L 3 82658 3.62941E-5 41329 0 3.18817E-5
1-26657974-A-G c.1179+6T>C splice_region AIM1L 3 82964 3.61603E-5 41482 0 NA
1-26657984-G-T p.Ser392Tyr missense AIM1L 2 83118 2.40622E-5 41559 0 NA
1-26657985-A-T p.Ser392Thr missense AIM1L 5 83126 6.01497E-5 41563 0 5.78637E-5
1-26657989-C-A p.Lys390Asn missense AIM1L 1 83168 1.20239E-5 41584 0 3.98406E-6
1-26657999-G-A p.Ser387Phe missense AIM1L 2 83192 2.40408E-5 41596 0 NA
1-26658002-C-T p.Gly386Asp missense AIM1L 2 83202 2.40379E-5 41601 0 3.98108E-6
1-26658009-C-A p.Val384Phe missense AIM1L 1 83248 1.20123E-5 41624 0 1.1938E-5
1-26658010-T-G p.Thr383Thr synonymous AIM1L 1 83244 1.20129E-5 41622 0 1.65008E-5
1-26658011-G-A p.Thr383Ile missense AIM1L 1098 83222 0.0131936 41611 11 0.0312815
1-26658019-G-A p.Leu380Leu synonymous AIM1L 6 83266 7.20582E-5 41633 0 8.24729E-5
1-26658029-A-G p.Met377Thr missense AIM1L 1 83288 1.20065E-5 41644 0 NA
1-26658035-G-A p.Thr375Met missense AIM1L 5 83288 6.00327E-5 41644 0 2.47349E-5
1-26658037-G-C p.Leu374Leu synonymous AIM1L 2 83296 2.40108E-5 41648 0 NA
1-26658044-G-A p.Pro372Leu missense AIM1L 1 83306 1.20039E-5 41653 0 NA
1-26658045-G-C p.Pro372Ala missense AIM1L 2 83306 2.40079E-5 41653 0 NA
1-26658049-C-G p.Glu370Asp missense AIM1L 1 83316 1.20025E-5 41658 0 3.97829E-6
1-26658051-C-T p.Glu370Lys missense AIM1L 7 83312 8.40215E-5 41656 0 3.97861E-5
1-26658088-C-G p.Thr357Thr synonymous AIM1L 1 83306 1.20039E-5 41653 0 8.25055E-6
1-26658088-C-T p.Thr357Thr synonymous AIM1L 2 83306 2.40079E-5 41653 0 1.19408E-5
1-26658089-G-A p.Thr357Met missense AIM1L 46 83288 5.523E-4 41644 0 5.04032E-4
1-26658089-G-C p.Thr357Arg missense AIM1L 1 83290 1.20062E-5 41645 0 NA
1-26658092-T-C p.Glu356Gly missense AIM1L 1 83276 1.20083E-5 41638 0 NA
1-26662588-G-A p.Gly349Gly splice_region+synonymous AIM1L 2 78866 2.53595E-5 39433 0 3.13041E-5
1-26662593-C-G p.Gly348Arg missense AIM1L 1 79202 1.26259E-5 39601 0 NA
1-26662596-G-GGTGAGACTGAGGTCTC p.His347fs frameshift AIM1L 46 79388 5.79433E-4 39694 1 0.00146525
1-26662616-C-A p.Arg340Leu missense AIM1L 9 80242 1.12161E-4 40121 0 1.26775E-4
1-26662627-G-C p.Pro336Pro synonymous AIM1L 1 80640 1.24008E-5 40320 0 1.36448E-5
1-26662635-C-A p.Ala334Ser missense AIM1L 2 80802 2.47519E-5 40401 0 8.89838E-5
1-26662666-G-T p.Gly323Gly synonymous AIM1L 1 81502 1.22696E-5 40751 0 NA
1-26662690-A-G p.Leu315Leu synonymous AIM1L 2 81744 2.44666E-5 40872 0 4.82812E-5
1-26662700-T-TTTGAGACGAAGTGCAGATCGTGCTCCCCGACCTGAA c.937-3_937-2insTTCAGGTCGGGGAGCACGATCTGCACTTCGTCTCAA splice_region AIM1L 1 81762 1.22306E-5 40881 0 NA
1-26662823-C-A c.936+6G>T splice_region AIM1L 1 81924 1.22064E-5 40962 0 NA
1-26662831-T-C p.Lys312Glu missense+splice_region AIM1L 1 81998 1.21954E-5 40999 0 NA
1-26662859-G-C p.Val302Val splice_region+synonymous AIM1L 11 81916 1.34284E-4 40958 0 1.38758E-4
1-26662859-G-A p.Val302Val splice_region+synonymous AIM1L 2 81916 2.44153E-5 40958 0 8.02156E-6
1-26662864-G-C c.904-3C>G splice_region AIM1L 1 81914 1.22079E-5 40957 0 NA
1-26662867-G-A c.904-6C>T splice_region AIM1L 1 81904 1.22094E-5 40952 0 NA
1-26662868-G-A c.904-7C>T splice_region AIM1L 1 81892 1.22112E-5 40946 0 NA
1-26662869-T-C c.904-8A>G splice_region AIM1L 2 81856 2.44332E-5 40928 0 1.87984E-5
1-26663092-C-T c.903+5G>A splice_region AIM1L 51 73280 6.95961E-4 36640 0 0.00115112
1-26663094-C-G c.903+3G>C splice_region AIM1L 6 73380 8.17661E-5 36690 0 NA
1-26663106-C-T p.Pro298Pro synonymous AIM1L 1 73810 1.35483E-5 36905 0 NA
1-26663119-G-A p.Ala294Val missense AIM1L 1 73546 1.35969E-5 36773 0 NA
1-26663128-C-G p.Ser291Thr missense AIM1L 1 73468 1.36114E-5 36734 0 6.72197E-6
1-26663130-GT-G p.Asn290fs frameshift AIM1L 1 73630 1.35814E-5 36815 0 6.46329E-5
1-26663130-G-A p.Asn290Asn synonymous AIM1L 2 73632 2.71621E-5 36816 0 NA
1-26663139-G-A p.Gly287Gly synonymous AIM1L 1 72870 1.37231E-5 36435 0 1.9924E-5
1-26663144-A-G p.Trp286Arg missense AIM1L 1 73084 1.36829E-5 36542 0 6.58588E-6
1-26663150-C-G p.Glu284Gln missense AIM1L 1 72508 1.37916E-5 36254 0 NA
1-26663162-A-G p.Tyr280His missense AIM1L 1 71960 1.38966E-5 35980 0 NA
1-26663169-C-A p.Lys277Asn missense AIM1L 1 71698 1.39474E-5 35849 0 1.20674E-5
1-26663174-C-T p.Glu276Lys missense AIM1L 1 71474 1.39911E-5 35737 0 NA
1-26663194-G-A p.Ser269Phe missense AIM1L 1 71088 1.40671E-5 35544 0 4.64468E-5
1-26663196-GA-G p.Phe268fs frameshift AIM1L 1 71078 1.40691E-5 35539 0 NA
1-26663212-T-G p.Tyr263Ser missense AIM1L 1 71274 1.40304E-5 35637 0 NA
1-26663215-G-A p.Ala262Val missense AIM1L 1 70976 1.40893E-5 35488 0 NA
1-26663223-C-A p.Val259Val splice_region+synonymous AIM1L 1 71230 1.4039E-5 35615 0 NA
1-26663357-G-A p.Gln251* stop_gained AIM1L 17 80812 2.10365E-4 40406 0 1.05932E-4
1-26663358-T-A p.Thr250Thr synonymous AIM1L 1 80834 1.2371E-5 40417 0 6.3861E-5
1-26663361-G-A p.Ser249Ser synonymous AIM1L 2 80974 2.46993E-5 40487 0 1.6756E-5
1-26663362-C-T p.Ser249Asn missense AIM1L 40995 78496 0.522256 39248 10795 0.560448
1-26663367-G-T p.Gly247Gly synonymous AIM1L 1 81130 1.23259E-5 40565 0 NA
1-26663369-C-G p.Gly247Arg missense AIM1L 1 81212 1.23135E-5 40606 0 9.24657E-5
1-26663374-T-G p.Gln245Pro missense AIM1L 1 81448 1.22778E-5 40724 0 NA
1-26663375-G-A p.Gln245* stop_gained AIM1L 1 81482 1.22726E-5 40741 0 NA
1-26663381-G-C p.Leu243Val missense AIM1L 1 81762 1.22306E-5 40881 0 NA
1-26663398-GC-G p.Ala237fs frameshift AIM1L 1 82158 1.21717E-5 41079 0 4.06732E-6
1-26663407-A-G p.Val234Ala missense AIM1L 1 82256 1.21572E-5 41128 0 NA
1-26663409-C-A p.Glu233Asp missense AIM1L 1 82336 1.21454E-5 41168 0 0.0020141
1-26663416-C-T p.Gly231Asp missense AIM1L 17 82384 2.06351E-4 41192 0 5.09976E-4
1-26663417-C-T p.Gly231Ser missense AIM1L 1 82388 1.21377E-5 41194 0 6.37918E-5
1-26663418-G-A p.His230His synonymous AIM1L 14 82410 1.69882E-4 41205 0 1.59429E-4
1-26663420-G-T p.His230Asn missense AIM1L 1 82430 1.21315E-5 41215 0 1.61617E-5
1-26663422-C-G p.Gly229Ala missense AIM1L 1 82464 1.21265E-5 41232 0 NA
1-26663432-C-A p.Asp226Tyr missense AIM1L 19 82542 2.30186E-4 41271 0 0.003125
1-26663450-C-T p.Val220Met missense AIM1L 6 82536 7.26955E-5 41268 0 6.44262E-5
1-26663457-C-T p.Pro217Pro synonymous AIM1L 26 82492 3.15182E-4 41246 0 1.32719E-4
1-26663462-C-A p.Asp216Tyr missense AIM1L 1 82502 1.21209E-5 41251 0 3.18959E-5
1-26663471-C-G p.Asp213His missense+splice_region AIM1L 1 82444 1.21294E-5 41222 0 NA
1-26663638-AG-A n.99delC splice_region AIM1L 1 80770 1.23808E-5 40385 0 NA
1-26663748-C-T p.Arg211Gln missense AIM1L 7 83156 8.41791E-5 41578 0 3.19101E-5
1-26663749-G-A p.Arg211Trp missense AIM1L 125 83168 0.00150298 41584 0 0.00475491
1-26663758-G-C p.Arg208Gly missense AIM1L 1 83174 1.2023E-5 41587 0 3.97912E-6
1-26663768-C-T p.Leu204Leu synonymous AIM1L 2 83200 2.40385E-5 41600 0 1.65025E-5
1-26663773-A-G p.Leu203Leu synonymous AIM1L 1 83202 1.20189E-5 41601 0 0.00100705
1-26663776-C-T p.Glu202Lys missense AIM1L 2 83206 2.40367E-5 41603 0 NA
1-26663785-C-T p.Gly199Ser missense AIM1L 1 83214 1.20172E-5 41607 0 7.95678E-6
1-26663795-T-C p.Ser195Ser synonymous AIM1L 5 83196 6.0099E-5 41598 0 6.25E-4
1-26663798-C-G p.Trp194Cys missense AIM1L 1 83198 1.20195E-5 41599 0 NA
1-26663805-G-A p.Pro192Leu missense AIM1L 3 83192 3.60612E-5 41596 0 3.18898E-5
1-26663824-G-C p.Leu186Val missense AIM1L 1 83166 1.20241E-5 41583 0 NA
1-26663825-C-A p.Leu185Leu synonymous AIM1L 1 83174 1.2023E-5 41587 0 3.97902E-6
1-26663842-G-A p.Arg180Trp missense AIM1L 60 83116 7.21883E-4 41558 0 0.00100705
1-26663857-C-T p.Glu175Lys missense AIM1L 3 83060 3.61185E-5 41530 0 6.25E-4
1-26663857-C-G p.Glu175Gln missense AIM1L 2 83060 2.4079E-5 41530 0 NA
1-26663858-G-A p.Tyr174Tyr synonymous AIM1L 10 83044 1.20418E-4 41522 0 5.03525E-4
1-26663868-C-G p.Trp171Ser missense+splice_region AIM1L 1 83020 1.20453E-5 41510 0 NA
1-26663870-G-A p.Cys170Cys splice_region+synonymous AIM1L 1 82986 1.20502E-5 41493 0 1.66445E-5
1-26664036-C-T p.Gly168Arg missense AIM1L 13 82972 1.56679E-4 41486 0 8.31352E-5
1-26664036-C-G p.Gly168Arg missense AIM1L 4 82972 4.8209E-5 41486 1 NA
1-26664037-G-A p.Leu167Leu synonymous AIM1L 5 82968 6.02642E-5 41484 0 6.38162E-5
1-26664046-C-T p.Leu164Leu synonymous AIM1L 1 82964 1.20534E-5 41482 0 NA
1-26664057-C-T p.Val161Met missense AIM1L 2 82946 2.41121E-5 41473 0 7.98805E-6
1-26664072-G-T p.Pro156Thr missense AIM1L 1 82904 1.20621E-5 41452 0 NA
1-26664082-G-C p.Asp152Glu missense AIM1L 7 82960 8.4378E-5 41480 0 0.00100705
1-26664096-G-A p.Gln148* stop_gained AIM1L 1 82912 1.2061E-5 41456 0 3.98702E-5
1-26664107-A-G p.Ile144Thr missense AIM1L 15 82818 1.8112E-4 41409 0 0.00151057
1-26664109-G-A p.Asp143Asp synonymous AIM1L 2 82804 2.41534E-5 41402 0 6.39059E-5
1-26664113-C-T p.Arg142Gln missense AIM1L 70 82726 8.46167E-4 41363 0 0.00302115
1-26664114-G-T p.Arg142Arg synonymous AIM1L 55 82688 6.65151E-4 41344 0 0.005
1-26664119-A-G p.Val140Ala missense AIM1L 1 82666 1.20969E-5 41333 0 2.49091E-5
1-26664131-C-T p.Arg136His missense AIM1L 6 82414 7.28032E-5 41207 1 2.87705E-4
1-26664132-G-A p.Arg136Cys missense AIM1L 8 82386 9.71039E-5 41193 0 4.15628E-4
1-26664133-G-T p.Gly135Gly synonymous AIM1L 1 82386 1.2138E-5 41193 0 NA
1-26664143-C-T p.Gly132Asp missense AIM1L 19 82210 2.31115E-4 41105 0 0.00100705
1-26664147-G-A p.Pro131Ser missense AIM1L 1 82124 1.21767E-5 41062 0 9.57793E-5
1-26664151-C-T p.Glu129Glu synonymous AIM1L 53 82020 6.46184E-4 41010 0 0.00302419
1-26664506-G-A p.Pro123Pro synonymous AIM1L 3 81444 3.68351E-5 40722 0 1.9366E-5
1-26664541-G-A c.337-3C>T splice_region AIM1L 1 81536 1.22645E-5 40768 0 3.18552E-5
1-26664834-T-C c.336+8A>G splice_region AIM1L 2 83054 2.40807E-5 41527 0 NA
1-26664854-C-T p.Lys108Lys synonymous AIM1L 2 83098 2.4068E-5 41549 0 9.86218E-5
1-26664862-A-T p.Ser106Thr missense AIM1L 1 83100 1.20337E-5 41550 0 6.37389E-5
1-26664867-A-G p.Val104Ala missense AIM1L 2 83096 2.40685E-5 41548 0 NA
1-26664878-C-T p.Ser100Ser synonymous AIM1L 2 83050 2.40819E-5 41525 0 3.18837E-5
1-26664879-G-A p.Ser100Leu missense AIM1L 2 83056 2.40801E-5 41528 0 1.67096E-5
1-26664881-T-C p.Thr99Thr synonymous AIM1L 8 83074 9.62997E-5 41537 0 1.59368E-4
1-26664899-G-A p.Thr93Thr synonymous AIM1L 1 82992 1.20494E-5 41496 0 NA
1-26664905-G-A p.Tyr91Tyr synonymous AIM1L 36 82938 4.34059E-4 41469 0 7.65209E-4
1-26664907-A-C p.Tyr91Asp missense AIM1L 75 82968 9.03963E-4 41484 1 0.001875
1-26664916-G-T p.Pro88Thr missense AIM1L 23 82938 2.77316E-4 41469 0 6.25E-4
1-26664923-G-C p.Ile85Met missense AIM1L 1 82914 1.20607E-5 41457 0 NA
1-26664931-G-A p.Pro83Ser missense AIM1L 1 82850 1.207E-5 41425 0 3.99454E-6
1-26664932-A-T p.Thr82Thr synonymous AIM1L 1 82838 1.20718E-5 41419 0 NA
1-26664935-G-A p.Asp81Asp synonymous AIM1L 2 82820 2.41488E-5 41410 0 NA
1-26664940-C-T p.Glu80Lys missense AIM1L 3 82746 3.62555E-5 41373 0 2.00314E-5
1-26664941-G-A p.Phe79Phe synonymous AIM1L 5 82754 6.042E-5 41377 0 7.5144E-5
1-26664956-G-A p.Tyr74Tyr synonymous AIM1L 2 82594 2.42148E-5 41297 0 3.18552E-5
1-26664968-C-T p.Leu70Leu splice_region+synonymous AIM1L 31307 80380 0.389487 40190 6244 0.391371
1-26664968-C-A p.Leu70Leu splice_region+synonymous AIM1L 1 82318 1.2148E-5 41159 0 3.19591E-5
1-26665775-A-T c.209+6T>A splice_region AIM1L 1 82454 1.2128E-5 41227 0 NA
1-26665776-C-T c.209+5G>A splice_region AIM1L 2 82496 2.42436E-5 41248 0 NA
1-26665794-C-T p.Val66Ile missense AIM1L 23 82820 2.77711E-4 41410 0 0.001875
1-26665798-G-A p.Ala64Ala synonymous AIM1L 1 82848 1.20703E-5 41424 0 NA
1-26665812-G-T p.Gln60Lys missense AIM1L 15 82972 1.80784E-4 41486 0 0.00125
1-26665815-G-T p.Leu59Met missense AIM1L 3 82982 3.61524E-5 41491 0 6.37267E-5
1-26665820-T-A p.Lys57Met missense AIM1L 1 82992 1.20494E-5 41496 0 NA
1-26665828-A-G p.Gly54Gly synonymous AIM1L 1 83040 1.20424E-5 41520 0 NA
1-26665831-C-T p.Gln53Gln synonymous AIM1L 1 83092 1.20349E-5 41546 0 NA
1-26665843-C-T p.Leu49Leu synonymous AIM1L 37 83166 4.44893E-4 41583 0 0.003125
1-26665848-C-A p.Ala48Ser missense AIM1L 2 83180 2.40442E-5 41590 0 NA
1-26665866-G-C p.Gln42Glu missense AIM1L 1 83188 1.2021E-5 41594 0 3.97674E-6
1-26665871-C-T p.Gly40Glu missense AIM1L 1 83190 1.20207E-5 41595 0 NA
1-26665873-C-G p.Lys39Asn missense AIM1L 773 83182 0.00929288 41591 8 0.0170025
1-26665873-C-T p.Lys39Lys synonymous AIM1L 84 83192 0.00100971 41596 0 6.64148E-4
1-26665874-T-C p.Lys39Arg missense AIM1L 1 83184 1.20215E-5 41592 0 NA
1-26665885-C-G p.Glu35Asp missense AIM1L 1 83184 1.20215E-5 41592 0 3.18552E-5
1-26665891-G-C p.Phe33Leu missense AIM1L 1 83138 1.20282E-5 41569 0 6.37227E-5
1-26665893-A-G p.Phe33Leu missense AIM1L 2 83128 2.40593E-5 41564 0 2.38663E-5
1-26665896-G-C p.Leu32Val missense AIM1L 1 83112 1.2032E-5 41556 0 4.13538E-5
1-26665896-G-A p.Leu32Phe missense AIM1L 1 83112 1.2032E-5 41556 0 3.18451E-5
1-26665906-C-T p.Pro28Pro synonymous AIM1L 20 83042 2.40842E-4 41521 0 4.46059E-4
1-26665907-G-A p.Pro28Leu missense AIM1L 3 83022 3.6135E-5 41511 0 2.48624E-5
1-26665910-G-A p.Thr27Ile missense AIM1L 12 83022 1.4454E-4 41511 0 0.00151057
1-26665913-C-G p.Ser26Thr missense AIM1L 1 82958 1.20543E-5 41479 0 NA
1-26665916-T-C p.Tyr25Cys missense AIM1L 7 82894 8.44452E-5 41447 0 0.00195059
1-26665924-TG-T c.70-5delC splice_region AIM1L 2 82698 2.41844E-5 41349 0 2.51155E-5
1-26669254-C-G p.Arg20Ser missense AIM1L 6 83136 7.21709E-5 41568 0 5.03525E-4
1-26669254-C-T p.Arg20Arg synonymous AIM1L 1 83136 1.20285E-5 41568 0 NA
1-26669262-G-A p.Leu18Leu synonymous AIM1L 2 83206 2.40367E-5 41603 0 NA
1-26669268-C-T p.Gly16Ser missense AIM1L 1 83240 1.20135E-5 41620 0 1.19367E-5
1-26669269-G-A p.Ile15Ile synonymous AIM1L 12 83256 1.44134E-4 41628 0 4.11977E-5
1-26669273-C-G p.Gly14Ala missense AIM1L 21 83268 2.52198E-4 41634 0 0.00111486
1-26669279-G-A p.Pro12Leu missense AIM1L 1 83274 1.20085E-5 41637 0 2.47166E-5
1-26669284-C-T p.Trp10* stop_gained AIM1L 1 83292 1.2006E-5 41646 0 3.97735E-6
1-26669291-G-A p.Thr8Ile missense AIM1L 1 83292 1.2006E-5 41646 0 8.23791E-6
1-26669302-T-C p.Arg4Arg synonymous AIM1L 1 83316 1.20025E-5 41658 0 8.2375E-6
1-26669311-C-T p.Met1? start_lost AIM1L 2 83324 2.40027E-5 41662 0 3.97678E-6
1-26669314-G-A p.Asp171Asp synonymous AIM1L 1 83320 1.20019E-5 41660 0 3.97687E-6
1-26669331-C-T p.Val166Ile missense AIM1L 1 83316 1.20025E-5 41658 0 3.97706E-6
1-26669342-C-G p.Gly162Ala missense AIM1L 2 83292 2.40119E-5 41646 0 8.24525E-6
1-26669345-C-T p.Arg161Gln missense AIM1L 35 83294 4.20198E-4 41647 0 0.00100705
1-26669346-G-A p.Arg161Trp missense AIM1L 1 83284 1.20071E-5 41642 0 3.18695E-5
1-26669358-C-G p.Glu157Gln missense AIM1L 2 83242 2.40263E-5 41621 0 3.97874E-6
1-26669362-G-A c.-49C>T 5_prime_UTR_premature_start_codon_gain AIM1L 7 83222 8.41124E-5 41611 0 1.40983E-4
1-26669369-A-T p.Val153Glu missense AIM1L 4 83172 4.80931E-5 41586 0 5.03525E-4
1-26669381-G-C c.-61-7C>G splice_region AIM1L 1 83112 1.2032E-5 41556 0 1.99559E-5
1-26669381-G-A c.-61-7C>T splice_region AIM1L 1 83112 1.2032E-5 41556 0 NA
1-26669534-T-A c.-62+4A>T splice_region AIM1L 1 80422 1.24344E-5 40211 0 NA
1-26669544-C-T p.Arg149Gln missense AIM1L 1 80364 1.24434E-5 40182 0 6.42343E-5
1-26669545-G-A p.Arg149* stop_gained AIM1L 2 80348 2.48917E-5 40174 0 1.96448E-5
1-26669547-A-G p.Val148Ala missense AIM1L 1 80390 1.24394E-5 40195 0 NA
1-26669561-G-A p.Ala143Ala synonymous AIM1L 6 80360 7.4664E-5 40180 0 2.62746E-5
1-26669567-G-T p.Pro141Pro synonymous AIM1L 49 80366 6.09711E-4 40183 0 8.92743E-4
1-26669567-G-A c.-91C>T 5_prime_UTR_premature_start_codon_gain AIM1L 3 80366 3.73292E-5 40183 0 6.2004E-5
1-26669574-C-T p.Trp139* stop_gained AIM1L 1 80362 1.24437E-5 40181 0 NA
1-26669578-C-T p.Gly138Ser missense AIM1L 1 80350 1.24456E-5 40175 0 NA
1-26669581-A-G p.Ser137Pro missense AIM1L 2 80356 2.48892E-5 40178 0 NA
1-26669590-C-T p.Arg352His missense AIM1L 1 80330 1.24486E-5 40165 0 7.91379E-5
1-26669591-G-A p.Arg352Cys missense AIM1L 1 80350 1.24456E-5 40175 0 1.319E-5
1-26669596-C-A p.Arg350Ile missense AIM1L 6 80314 7.47068E-5 40157 0 NA
1-26669604-A-C p.Val129Gly missense AIM1L 1 80224 1.24651E-5 40112 0 0.0318428
1-26669605-C-T p.Gly347Asp missense AIM1L 1 80314 1.24511E-5 40157 0 NA
1-26669618-GCC-G p.Arg342fs frameshift AIM1L 1 80378 1.24412E-5 40189 0 3.18674E-5
1-26669621-T-TGC p.Arg342fs frameshift AIM1L 1 80388 1.24397E-5 40194 0 3.18837E-5
1-26669631-G-A p.Ser120Phe missense AIM1L 1 80406 1.24369E-5 40203 0 1.97205E-5
1-26669637-GAGA-G p.Leu336del disruptive_inframe_deletion AIM1L 2 80412 2.48719E-5 40206 0 6.57462E-6
1-26669644-A-T p.Leu334His missense AIM1L 1 80396 1.24384E-5 40198 0 6.18506E-5
1-26669732-C-T c.-175+5G>A splice_region AIM1L 2 80058 2.49819E-5 40029 0 6.60755E-6
1-26669737-C-A p.Gly332Cys missense+splice_region AIM1L 3 80054 3.74747E-5 40027 0 2.6447E-5
1-26669746-C-A p.Ala329Ser missense AIM1L 136 80014 0.0016997 40007 0 0.00325733
1-26669789-A-C c.-222-5T>G splice_region AIM1L 1 79826 1.25272E-5 39913 0 NA
1-26669791-C-T c.-222-7G>A splice_region AIM1L 183 79786 0.00229364 39893 1 0.00466215
1-26669792-G-A c.-222-8C>T splice_region AIM1L 3 79766 3.761E-5 39883 0 3.32974E-5
1-26670236-C-T p.Trp316* stop_gained AIM1L 4 79062 5.05932E-5 39531 0 NA
1-26670236-C-G p.Trp316Cys missense+splice_region AIM1L 1 79062 1.26483E-5 39531 0 6.36943E-5
1-26670238-A-T p.Trp316Arg missense+splice_region AIM1L 5 78984 6.3304E-5 39492 0 3.04378E-4
1-26670239-C-A c.-226G>T 5_prime_UTR_premature_start_codon_gain AIM1L 2 79108 2.52819E-5 39554 0 NA
1-26670239-C-T c.-226G>A 5_prime_UTR_premature_start_codon_gain AIM1L 1 79108 1.26409E-5 39554 0 NA
1-26670242-C-G p.Glu314Asp missense AIM1L 1 79140 1.26358E-5 39570 0 NA
1-26670253-G-A c.-240C>T 5_prime_UTR_premature_start_codon_gain AIM1L 18 79312 2.26952E-4 39656 0 0.00125
1-26670264-A-G p.Leu307Pro missense AIM1L 1 79418 1.25916E-5 39709 0 6.36943E-5
1-26670267-T-C p.Lys306Arg missense AIM1L 3 79458 3.77558E-5 39729 0 1.30317E-5
1-26670272-C-T p.Thr304Thr synonymous AIM1L 3 79492 3.77396E-5 39746 0 1.29631E-5
1-26670273-G-T p.Thr304Lys missense AIM1L 3 79504 3.77339E-5 39752 0 2.38777E-4
1-26670273-G-A p.Thr304Met missense AIM1L 1 79504 1.2578E-5 39752 0 6.25E-4
1-26670274-T-C p.Thr304Ala missense AIM1L 2 79532 2.51471E-5 39766 0 6.48896E-5
1-26670293-G-C p.Cys297Trp missense AIM1L 1 79640 1.25565E-5 39820 0 2.37643E-4
1-26670300-A-T p.Leu295Gln missense AIM1L 1 79692 1.25483E-5 39846 0 NA
1-26670304-GCAA-G p.Leu293del conservative_inframe_deletion AIM1L 1 79680 1.25502E-5 39840 0 NA
1-26670312-C-T p.Gly291Glu missense AIM1L 1 79738 1.25411E-5 39869 0 2.3753E-4
1-26670323-C-T p.Arg287Arg synonymous AIM1L 1 79754 1.25386E-5 39877 0 NA
1-26670326-G-A p.Leu286Leu synonymous AIM1L 74 79764 9.27737E-4 39882 2 0.00339367
1-26670329-C-T p.Gly285Gly synonymous AIM1L 1 79742 1.25404E-5 39871 0 NA
1-26670332-C-T p.Pro284Pro synonymous AIM1L 1 79748 1.25395E-5 39874 0 1.10142E-5
1-26670333-G-A p.Pro284Leu missense AIM1L 39 79726 4.89175E-4 39863 0 0.00133792
1-26670341-A-G p.His281His synonymous AIM1L 2 79760 2.50752E-5 39880 0 NA
1-26670354-G-T p.Ala277Asp missense AIM1L 3 79690 3.76459E-5 39845 0 6.25E-4
1-26670374-C-T p.Pro270Pro synonymous AIM1L 1 79552 1.25704E-5 39776 0 0.00125
1-26670375-G-A p.Pro270Leu missense AIM1L 4 79548 5.02841E-5 39774 0 7.88295E-6
1-26670380-C-T p.Pro268Pro synonymous AIM1L 1 79460 1.25849E-5 39730 0 3.92927E-4
1-26670391-C-A p.Ala265Ser missense AIM1L 2 79300 2.52207E-5 39650 0 NA
1-26670400-C-T p.Ala262Thr missense AIM1L 2 79066 2.52953E-5 39533 0 8.08431E-5
1-26670401-G-A c.-388C>T 5_prime_UTR_premature_start_codon_gain AIM1L 812 79020 0.0102759 39510 5 0.0166567
1-26670401-G-T p.Thr261Thr synonymous AIM1L 1 79044 1.26512E-5 39522 0 3.18471E-5
1-26670406-G-C p.Pro260Ala missense AIM1L 2 78966 2.53274E-5 39483 0 NA
1-26670409-C-A p.Val259Leu missense AIM1L 1 78952 1.26659E-5 39476 0 NA
1-26670414-C-A p.Ser257Ile missense AIM1L 1 78848 1.26826E-5 39424 0 NA
1-26670414-C-G p.Ser257Thr missense AIM1L 1 78850 1.26823E-5 39425 0 NA
1-26670414-C-T p.Ser257Asn missense AIM1L 1 78850 1.26823E-5 39425 0 7.17916E-6
1-26670418-C-T p.Gly256Ser missense AIM1L 57 78658 7.24656E-4 39329 0 0.00125
1-26670419-G-A c.-406C>T 5_prime_UTR_premature_start_codon_gain AIM1L 3 78668 3.81349E-5 39334 0 2.87006E-5
1-26670428-G-C p.Ser252Arg missense AIM1L 2 78518 2.54719E-5 39259 0 NA
1-26670436-C-T p.Gly250Arg missense AIM1L 1 78444 1.27479E-5 39222 0 NA
1-26670441-C-T p.Arg248His missense AIM1L 1 78312 1.27694E-5 39156 0 9.55475E-5
1-26670444-G-T p.Ser247Tyr missense AIM1L 20114 77520 0.259469 38760 2674 0.311563
1-26670447-G-A p.Thr246Ile missense AIM1L 1 78212 1.27858E-5 39106 0 NA
1-26670469-G-A p.Leu239Leu synonymous AIM1L 1 77948 1.28291E-5 38974 0 7.34462E-6
1-26670475-A-G p.Leu237Leu synonymous AIM1L 2 77946 2.56588E-5 38973 0 9.55718E-5
1-26670492-G-T p.Pro231His missense AIM1L 2 77774 2.57155E-5 38887 0 7.39492E-6
1-26670494-G-A p.Gly230Gly synonymous AIM1L 1 77740 1.28634E-5 38870 0 NA
1-26670537-G-C p.Ser216Cys missense AIM1L 7 77290 9.0568E-5 38645 0 8.90688E-4
1-26670575-C-G p.Arg203Ser missense AIM1L 19 77222 2.46044E-4 38611 0 3.50653E-4
1-26670577-T-C p.Arg203Gly missense AIM1L 1 77212 1.29514E-5 38606 0 9.56084E-5
1-26670578-G-A p.Ser202Ser synonymous AIM1L 9 77198 1.16583E-4 38599 0 6.67854E-5
1-26670601-C-T p.Glu195Lys missense AIM1L 3 77072 3.89246E-5 38536 0 7.42203E-6
1-26670605-C-G p.Arg193Ser missense AIM1L 1 77036 1.29809E-5 38518 0 NA
1-26670609-C-T p.Arg192His missense AIM1L 19797 76400 0.259123 38200 2669 0.288978
1-26670610-G-A p.Arg192Cys missense AIM1L 1 76928 1.29992E-5 38464 0 6.64011E-4
1-26670626-G-A p.Asp186Asp synonymous AIM1L 6 76710 7.82167E-5 38355 0 1.48159E-5
1-26670648-G-C p.Pro179Arg missense AIM1L 4 76394 5.23601E-5 38197 0 8.18063E-5
1-26670650-TTCC-T p.Glu178del disruptive_inframe_deletion AIM1L 69 75446 9.14561E-4 37723 0 0.00431779
1-26670650-T-TTCC p.Glu178dup disruptive_inframe_insertion AIM1L 726 76394 0.00950336 38197 3 0.00728295
1-26670650-TTCCTCC-T p.Glu177_Glu178del disruptive_inframe_deletion AIM1L 5 76402 6.54433E-5 38201 0 NA
1-26670656-C-A p.Glu176Asp missense AIM1L 300 76366 0.00392845 38183 2 0.005
1-26670661-C-T p.Glu175Lys missense AIM1L 43 76316 5.63447E-4 38158 1 6.04595E-4
1-26670664-C-T p.Glu174Lys missense AIM1L 2 76276 2.62206E-5 38138 0 6.37471E-5
1-26670668-C-T p.Glu172Glu synonymous AIM1L 1 76282 1.31093E-5 38141 0 3.18552E-5
1-26670698-G-A p.Pro162Pro synonymous AIM1L 2 76178 2.62543E-5 38089 0 3.18573E-5
1-26670701-TCCGGG-T p.Pro160fs frameshift AIM1L 1 76152 1.31316E-5 38076 0 NA
1-26670703-C-T p.Gly161Arg missense AIM1L 2 76160 2.62605E-5 38080 0 6.68529E-5
1-26670704-G-A p.Pro160Pro synonymous AIM1L 4 76146 5.25307E-5 38073 0 8.91875E-5
1-26670707-G-A p.Gly159Gly synonymous AIM1L 1 76160 1.31303E-5 38080 0 8.47889E-5
1-26670707-G-T p.Gly159Gly synonymous AIM1L 2 76156 2.62619E-5 38078 0 6.37186E-5
1-26670708-C-CCTT p.Leu158_Gly159insGlu conservative_inframe_insertion AIM1L 1 76160 1.31303E-5 38080 0 NA
1-26670723-C-G p.Gly154Ala missense AIM1L 2 76242 2.62323E-5 38121 0 2.98098E-5
1-26670733-C-T p.Asp151Asn missense AIM1L 1 76284 1.31089E-5 38142 0 NA
1-26670739-C-T p.Glu149Lys missense AIM1L 3 76314 3.93113E-5 38157 0 1.91083E-4
1-26670742-T-C p.Ile148Val missense AIM1L 1 76324 1.3102E-5 38162 0 NA
1-26670744-G-A p.Ala147Val missense AIM1L 3 76326 3.93051E-5 38163 0 3.73994E-5
1-26670752-C-T p.Thr144Thr synonymous AIM1L 15421 75876 0.20324 37938 1565 0.257401
1-26670753-G-A p.Thr144Met missense AIM1L 147 76292 0.00192681 38146 1 0.00423639
1-26670757-C-A p.Ala143Ser missense AIM1L 4 76286 5.24343E-5 38143 0 1.52409E-5
1-26670757-C-T p.Ala143Thr missense AIM1L 1 76286 1.31086E-5 38143 0 NA
1-26670758-G-A p.Tyr142Tyr synonymous AIM1L 1 76296 1.31068E-5 38148 0 7.59648E-6
1-26670762-A-G p.Met141Thr missense AIM1L 1 76326 1.31017E-5 38163 0 NA
1-26670769-G-A p.Leu139Leu synonymous AIM1L 5 76292 6.55377E-5 38146 0 8.63436E-5
1-26670777-G-A p.Ser136Phe missense AIM1L 3 76284 3.93267E-5 38142 0 NA
1-26670780-C-T p.Arg135His missense AIM1L 1 76232 1.31179E-5 38116 0 1.70497E-5
1-26670781-G-A p.Arg135Cys missense AIM1L 1362 76224 0.0178684 38112 17 0.0327677
1-26670785-G-A p.Ala133Ala synonymous AIM1L 202 76288 0.00264786 38144 0 0.00562852
1-26670787-C-T p.Ala133Thr missense AIM1L 1 76264 1.31123E-5 38132 0 NA
1-26670789-C-T p.Arg132Gln missense AIM1L 3 76250 3.93443E-5 38125 0 3.34113E-4
1-26670794-C-T p.Leu130Leu synonymous AIM1L 1 76268 1.31117E-5 38134 0 NA
1-26670798-C-T p.Arg129Gln missense AIM1L 6 76268 7.867E-5 38134 0 8.95351E-6
1-26670801-T-C p.His128Arg missense AIM1L 1 76224 1.31192E-5 38112 0 NA
1-26670807-C-T p.Arg126His missense AIM1L 1 76250 1.31148E-5 38125 0 5.39054E-5
1-26670808-G-A p.Arg126Cys missense AIM1L 1 76266 1.3112E-5 38133 0 1.95695E-4
1-26670809-G-C p.Leu125Leu synonymous AIM1L 3 76300 3.93185E-5 38150 0 6.25E-4
1-26670823-G-A p.Pro121Ser missense AIM1L 3 76258 3.93401E-5 38129 0 3.7365E-5
1-26670826-C-T p.Glu120Lys missense AIM1L 1 76284 1.31089E-5 38142 0 NA
1-26670829-T-A p.Met119Leu missense AIM1L 1 76260 1.3113E-5 38130 0 NA
1-26670834-C-T p.Arg117Gln missense AIM1L 1 76180 1.31268E-5 38090 0 2.14225E-4
1-26670835-G-A p.Arg117Trp missense AIM1L 18 76124 2.36456E-4 38062 0 2.11775E-4
1-26670839-C-T p.Thr115Thr synonymous AIM1L 1 76082 1.31437E-5 38041 0 NA
1-26670840-G-A p.Thr115Met missense AIM1L 92 76046 0.00120979 38023 1 0.00312181
1-26670845-C-T p.Leu113Leu synonymous AIM1L 1 76048 1.31496E-5 38024 0 3.55543E-5
1-26670853-T-G p.Ile111Leu missense AIM1L 3 75884 3.9534E-5 37942 0 3.18918E-5
1-26670865-C-G p.Ala107Pro missense AIM1L 1 75266 1.32862E-5 37633 0 NA
1-26670866-G-A p.Ala106Ala synonymous AIM1L 1 75206 1.32968E-5 37603 0 1.93199E-4
1-26670875-C-T p.Val103Val synonymous AIM1L 1 74684 1.33897E-5 37342 0 NA
1-26670877-C-G p.Val103Leu missense AIM1L 15 74542 2.01229E-4 37271 0 3.6483E-4
1-26670878-C-G p.Glu102Asp missense AIM1L 1 74476 1.34271E-5 37238 0 8.3257E-6
1-26670882-T-C p.Asp101Gly missense AIM1L 4 74104 5.39782E-5 37052 0 8.24606E-5
1-26670898-T-C p.Thr96Ala missense AIM1L 16 72752 2.19925E-4 36376 0 0.005
1-26670899-C-G p.Glu95Asp missense AIM1L 2 72670 2.75217E-5 36335 0 NA
1-26670903-G-A p.Thr94Ile missense AIM1L 1 72378 1.38164E-5 36189 0 1.64528E-4
1-26670909-G-A p.Thr92Met missense AIM1L 4 71530 5.59206E-5 35765 0 7.09611E-5
1-26670920-G-A p.Thr88Thr synonymous AIM1L 2 70216 2.84835E-5 35108 0 3.17859E-5
1-26670922-T-A p.Thr88Ser missense AIM1L 1 70234 1.42381E-5 35117 0 3.18532E-5
1-26670931-A-G p.Ser85Pro missense AIM1L 1 69724 1.43423E-5 34862 0 NA
1-26670947-C-T p.Thr79Thr synonymous AIM1L 4 68704 5.82208E-5 34352 0 2.31657E-5
1-26670948-G-A p.Thr79Met missense AIM1L 144 68654 0.00209747 34327 0 0.00308469
1-26670954-G-A p.Ala77Val missense AIM1L 1 68154 1.46727E-5 34077 0 3.18512E-5
1-26670961-C-A p.Ala75Ser missense AIM1L 1 68004 1.4705E-5 34002 0 NA
1-26670963-C-T p.Gly74Glu missense AIM1L 1 68048 1.46955E-5 34024 0 7.22397E-6
1-26670966-G-A p.Thr73Ile missense AIM1L 17 67896 2.50383E-4 33948 0 0.00125
1-26670974-T-C p.Pro70Pro synonymous AIM1L 1 67618 1.4789E-5 33809 0 NA
1-26670982-G-A p.Pro68Ser missense AIM1L 1 67330 1.48522E-5 33665 0 NA
1-26671002-G-T p.Ser61Tyr missense AIM1L 274 67778 0.00404261 33889 3 0.0103543
1-26671004-C-T p.Val60Val synonymous AIM1L 1 67850 1.47384E-5 33925 0 NA
1-26671006-C-A p.Val60Leu missense AIM1L 6 68112 8.80902E-5 34056 0 8.54772E-4
1-26671751-G-A p.Gly466Gly splice_region+synonymous AIM1L 1 79054 1.26496E-5 39527 0 NA
1-26671759-C-A p.Val464Leu missense AIM1L 1 78970 1.2663E-5 39485 0 8.48076E-6
1-26671789-G-A p.Pro454Ser missense AIM1L 2 78736 2.54013E-5 39368 0 NA
1-26671792-C-T p.Val453Ile missense AIM1L 5 78734 6.3505E-5 39367 0 8.41822E-6
1-26671802-G-A p.Asn449Asn synonymous AIM1L 1 78630 1.27178E-5 39315 0 NA
1-26671807-G-C p.Gln448Glu missense AIM1L 11 78556 1.40027E-4 39278 1 0.006875
1-26671821-C-T p.Arg443Lys missense AIM1L 1 78464 1.27447E-5 39232 0 NA
1-26671826-G-A p.Ser441Ser synonymous AIM1L 1 78390 1.27567E-5 39195 0 NA
1-26671827-G-T p.Ser441Tyr missense AIM1L 1 78366 1.27606E-5 39183 0 NA
1-26671837-C-T p.Ala438Thr missense AIM1L 2 78460 2.54907E-5 39230 0 2.07199E-4
1-26671845-C-A c.169+1G>T splice_donor AIM1L 4 78494 5.09593E-5 39247 0 9.55597E-5
1-26671858-G-A p.Pro53Ser missense AIM1L 1 78434 1.27496E-5 39217 0 8.46783E-6
1-26671861-C-T p.Val52Ile missense AIM1L 1 78464 1.27447E-5 39232 0 1.35619E-4
1-26671872-C-T p.Arg48Lys missense AIM1L 12 78530 1.52808E-4 39265 0 6.37105E-5
1-26671876-T-C p.Thr47Ala missense AIM1L 1 78536 1.2733E-5 39268 0 NA
1-26671886-A-G p.Ala43Ala synonymous AIM1L 5 78492 6.37008E-5 39246 0 9.55597E-5
1-26671899-C-T p.Gly39Glu missense AIM1L 31 78504 3.94884E-4 39252 1 0.00151897
1-26671906-C-T p.Val37Ile missense AIM1L 1 78534 1.27333E-5 39267 0 NA
1-26671914-T-G p.His34Pro missense AIM1L 1 78548 1.27311E-5 39274 0 3.18512E-5
1-26671918-C-T p.Glu33Lys missense AIM1L 3 78444 3.82438E-5 39222 0 5.18135E-4
1-26671919-G-A p.Ser32Ser synonymous AIM1L 1 78386 1.27574E-5 39193 0 8.78796E-6
1-26671920-C-G p.Ser32Thr missense AIM1L 618 78378 0.00788487 39189 16 0.0159605
1-26671925-C-T p.Val30Val synonymous AIM1L 1 78460 1.27453E-5 39230 0 4.16268E-6
1-26671943-G-A p.Ala24Ala synonymous AIM1L 1 78246 1.27802E-5 39123 0 8.92252E-6
1-26671949-A-C p.Pro22Pro synonymous AIM1L 2 78114 2.56036E-5 39057 0 NA
1-26671953-G-C p.Pro21Arg missense AIM1L 1 78048 1.28126E-5 39024 0 9.01128E-6
1-26671960-C-T p.Val19Met missense AIM1L 7 77696 9.00947E-5 38848 0 5.18135E-4
1-26671966-C-T p.Gly17Arg missense AIM1L 9 77440 1.16219E-4 38720 0 6.26566E-4
1-26671967-G-A p.Asp16Asp splice_region+synonymous AIM1L 4 77392 5.16849E-5 38696 0 6.38919E-5
1-26671969-C-T p.Asp16Asn missense+splice_region AIM1L 1 77432 1.29146E-5 38716 0 NA
1-26671970-C-CT p.Asp394fs frameshift AIM1L 1 77366 1.29256E-5 38683 0 6.58216E-5
1-26671970-C-T c.46-1G>A splice_acceptor AIM1L 15 77374 1.93864E-4 38687 0 5.12978E-5
1-26671970-CT-C p.Lys393fs frameshift AIM1L 1 77370 1.29249E-5 38685 0 2.16271E-4
1-26671979-A-AG p.Lys391fs frameshift AIM1L 1 77108 1.29688E-5 38554 0 NA
1-26671996-G-A p.Pro385Ser missense AIM1L 1 77090 1.29719E-5 38545 0 NA
1-26671997-A-T p.Thr384Thr synonymous AIM1L 4 77020 5.19346E-5 38510 0 9.12059E-6
1-26672002-G-A p.Leu383Phe missense AIM1L 1 76990 1.29887E-5 38495 0 3.64199E-5
1-26672004-C-T p.Arg382Gln missense AIM1L 5 76996 6.49384E-5 38498 0 2.73373E-5
1-26672005-G-A p.Arg382Trp missense AIM1L 1 77078 1.29739E-5 38539 0 3.19163E-5
1-26672007-G-A p.Ala381Val missense AIM1L 1 77128 1.29655E-5 38564 0 4.2896E-6
1-26672010-C-T p.Gly380Glu missense AIM1L 1 77170 1.29584E-5 38585 0 1.81018E-5
1-26672011-C-A p.Gly380Trp missense AIM1L 1 77194 1.29544E-5 38597 0 NA
1-26672012-G-A p.Pro379Pro synonymous AIM1L 10 77242 1.29463E-4 38621 0 0.00105703
1-26672017-G-A p.His378Tyr missense AIM1L 1 77462 1.29096E-5 38731 0 4.22879E-6
1-26672028-A-G p.Val374Ala missense AIM1L 2 77734 2.57288E-5 38867 0 8.88178E-6
1-26672045-G-A p.His368His synonymous AIM1L 1 78058 1.2811E-5 39029 0 1.66955E-5
1-26672045-G-T p.His368Gln missense AIM1L 1 78058 1.2811E-5 39029 0 NA
1-26672053-G-A p.Leu366Leu synonymous AIM1L 1 78216 1.27851E-5 39108 0 8.72387E-6
1-26672062-A-G p.Ser363Pro missense AIM1L 2 78336 2.5531E-5 39168 0 NA
1-26672065-G-T p.Pro362Thr missense AIM1L 1 78374 1.27593E-5 39187 0 NA
1-26672066-G-A p.Val361Val synonymous AIM1L 4 78358 5.10478E-5 39179 0 2.51891E-5
1-26672074-T-C p.Thr359Ala missense AIM1L 102 78386 0.00130125 39193 3 0.00456517
1-26672078-G-A p.Leu357Leu synonymous AIM1L 1 78436 1.27492E-5 39218 0 1.73094E-5
1-26672082-C-T p.Arg356Lys missense AIM1L 12 78458 1.52948E-4 39229 0 6.77891E-5
1-26672096-G-A p.Val351Val synonymous AIM1L 9 78354 1.14863E-4 39177 0 4.26098E-5
1-26672101-A-G p.Ser350Pro missense AIM1L 3 78296 3.83161E-5 39148 0 6.06933E-5
1-26672102-T-C p.Ala349Ala synonymous AIM1L 5 78308 6.38504E-5 39154 0 1.28124E-5
1-26672102-T-G p.Ala349Ala synonymous AIM1L 1 78308 1.27701E-5 39154 0 1.02499E-4
1-26672106-T-C p.Gln348Arg missense AIM1L 40 78196 5.11535E-4 39098 2 0.003125
1-26672112-T-G p.Gln346Pro missense AIM1L 1 78126 1.27998E-5 39063 0 NA
1-26672136-G-A p.Thr338Ile missense AIM1L 1 77410 1.29182E-5 38705 0 NA
1-26672153-C-T p.Leu332Leu synonymous AIM1L 1 77122 1.29665E-5 38561 0 8.98828E-6
1-26672156-C-T p.Val331Val synonymous AIM1L 1 77108 1.29688E-5 38554 0 NA
1-26672158-C-T p.Val331Met missense AIM1L 3 77114 3.89034E-5 38557 0 6.25E-4
1-26672167-G-A p.Leu328Phe missense AIM1L 3 77084 3.89186E-5 38542 1 3.88991E-5
1-26672172-C-T p.Cys326Tyr missense AIM1L 1 77150 1.29618E-5 38575 0 3.03438E-5
1-26672174-G-A p.Ala325Ala synonymous AIM1L 17 77164 2.2031E-4 38582 0 8.28659E-4
1-26672187-G-A p.Pro321Leu missense AIM1L 542 77092 0.00703056 38546 13 0.0132057
1-26672187-G-C p.Pro321Arg missense AIM1L 1 77100 1.29702E-5 38550 0 2.83925E-4
1-26672193-C-T p.Arg319Lys missense AIM1L 3 77118 3.89014E-5 38559 0 9.39214E-6
1-26672200-G-T p.Gln317Lys missense AIM1L 1 77218 1.29503E-5 38609 0 NA
1-26672211-G-A p.Pro313Leu missense AIM1L 1 77366 1.29256E-5 38683 0 3.94225E-5
1-26672220-G-A p.Ala310Val missense AIM1L 1 77392 1.29212E-5 38696 0 NA
1-26672236-T-G p.Asn305His missense AIM1L 1 77426 1.29156E-5 38713 0 NA
1-26672241-G-A p.Pro303Leu missense AIM1L 1 77474 1.29076E-5 38737 0 4.36903E-6
1-26672249-A-C p.Ala300Ala synonymous AIM1L 1 77378 1.29236E-5 38689 0 NA
1-26672252-A-C p.Ser299Arg missense AIM1L 1 77300 1.29366E-5 38650 0 1.93821E-5
1-26672253-C-G p.Ser299Thr missense AIM1L 2 77332 2.58625E-5 38666 0 NA
1-26672254-T-C p.Ser299Gly missense AIM1L 1 77316 1.29339E-5 38658 0 NA
1-26672265-C-A p.Gly295Val missense AIM1L 36 77066 4.67132E-4 38533 0 0.00133903
1-26672265-C-T p.Gly295Asp missense AIM1L 1 77066 1.29759E-5 38533 0 NA
1-26672269-T-C p.Thr294Ala missense AIM1L 4 77042 5.19197E-5 38521 0 6.37999E-5
1-26672271-G-C p.Ser293Cys missense AIM1L 1 77010 1.29853E-5 38505 0 4.4211E-6
1-26672306-C-A p.Gly281Gly synonymous AIM1L 1 76254 1.31141E-5 38127 0 NA
1-26672308-C-T p.Gly281Arg missense AIM1L 1 76134 1.31347E-5 38067 0 6.97461E-5
1-26672309-G-A p.Thr280Thr synonymous AIM1L 3 76070 3.94374E-5 38035 0 9.94352E-5
1-26672317-G-A p.Pro278Ser missense AIM1L 2 75742 2.64054E-5 37871 0 9.56572E-5
1-26672340-A-C p.Val270Gly missense AIM1L 1 75044 1.33255E-5 37522 0 4.00117E-5
1-26672348-G-T p.Gly267Gly synonymous AIM1L 1 74650 1.33958E-5 37325 0 NA
1-26672364-C-T p.Arg262Lys missense AIM1L 375 73876 0.00507607 36938 5 0.0107767
1-26672372-G-A p.Gly259Gly synonymous AIM1L 17 73166 2.32348E-4 36583 0 1.84484E-4
1-26672379-G-A p.Thr257Met missense AIM1L 12 72946 1.64505E-4 36473 0 3.82629E-4
1-26672379-G-C p.Thr257Arg missense AIM1L 1 72946 1.37088E-5 36473 0 6.185E-5
1-26672383-GC-G p.Arg255fs frameshift AIM1L 1 72754 1.37449E-5 36377 0 3.18857E-5
1-26672392-G-A p.Leu253Leu synonymous AIM1L 3 72362 4.14582E-5 36181 0 3.96773E-5
1-26672395-G-A p.His252Tyr missense AIM1L 2 72114 2.77339E-5 36057 0 2.20527E-5
1-26672402-AGG-A p.Pro249fs frameshift AIM1L 2 71622 2.79244E-5 35811 0 NA
1-26672405-G-T p.Pro248Pro synonymous AIM1L 3 71342 4.2051E-5 35671 0 0.0025
1-26672407-G-A p.Pro248Ser missense AIM1L 1 71216 1.40418E-5 35608 0 1.77149E-5
1-26672408-G-A p.Ser247Ser synonymous AIM1L 12 70992 1.69033E-4 35496 0 3.50542E-4
1-26672411-G-A p.His246His synonymous AIM1L 31 70748 4.38175E-4 35374 0 0.00133843
1-26672425-C-T p.Val242Met missense AIM1L 3 69416 4.32177E-5 34708 0 1.33458E-5
1-26672446-C-T p.Val235Met missense AIM1L 1 67552 1.48034E-5 33776 0 1.34448E-5
1-26672459-G-T p.Ser230Arg missense AIM1L 5 66986 7.46425E-5 33493 0 2.87026E-4
1-26672459-G-A p.Ser230Ser synonymous AIM1L 1 66990 1.49276E-5 33495 0 9.98263E-6
1-26672463-G-T p.Pro229His missense AIM1L 1 66804 1.49692E-5 33402 0 NA
1-26672465-C-T p.Ser228Ser synonymous AIM1L 1 65964 1.51598E-5 32982 0 5.20833E-4
1-26672466-G-A p.Ser228Leu missense AIM1L 1 66438 1.50516E-5 33219 0 4.53964E-6
1-26672473-G-C p.Pro226Ala missense AIM1L 1 67284 1.48624E-5 33642 0 1.01172E-5
1-26672474-T-C p.Pro225Pro synonymous AIM1L 1 67202 1.48805E-5 33601 0 4.54294E-6
1-26672485-C-T p.Val222Met missense AIM1L 1 68030 1.46994E-5 34015 0 1.02266E-5
1-26672487-A-G p.Val221Ala missense AIM1L 4 68206 5.86459E-5 34103 0 3.19305E-5
1-26672490-A-C p.Val220Gly missense AIM1L 2 68494 2.91996E-5 34247 0 4.1024E-5
1-26672496-G-A p.Pro218Leu missense AIM1L 3 68618 4.37203E-5 34309 0 6.25E-4
1-26672505-C-T p.Arg215His missense AIM1L 8 69462 1.15171E-4 34731 0 6.38162E-5
1-26672506-G-A p.Arg215Cys missense AIM1L 474 69820 0.00678889 34910 16 0.017773
1-26672517-C-T p.Arg211His missense AIM1L 1 70932 1.4098E-5 35466 0 4.56017E-5
1-26672517-C-A p.Arg211Leu missense AIM1L 1 70932 1.4098E-5 35466 0 NA
1-26672518-G-A p.Arg211Cys missense AIM1L 2 70998 2.81698E-5 35499 0 6.37999E-5
1-26672523-C-A p.Arg209Leu missense AIM1L 2 71882 2.78234E-5 35941 0 1.64696E-4
1-26672524-G-A p.Arg209Trp missense AIM1L 2 72050 2.77585E-5 36025 0 1.06778E-4
1-26672537-G-A p.Gly204Gly synonymous AIM1L 9 72874 1.23501E-4 36437 0 0.00155602
1-26672539-C-T p.Gly204Ser missense AIM1L 19 73574 2.58243E-4 36787 0 5.18135E-4
1-26672578-G-A p.Arg191Trp missense AIM1L 7 75766 9.23897E-5 37883 0 6.56039E-5
1-26672581-G-A p.Arg190Trp missense AIM1L 4 75992 5.26371E-5 37996 0 7.60473E-5
1-26672595-C-T p.Gly185Glu missense AIM1L 1 76524 1.30678E-5 38262 0 6.25E-4
1-26672600-C-T p.Val183Val synonymous AIM1L 3 76586 3.91716E-5 38293 0 1.59408E-4
1-26672602-C-G p.Val183Leu missense AIM1L 1 76666 1.30436E-5 38333 0 NA
1-26672602-C-T p.Val183Met missense AIM1L 1 76666 1.30436E-5 38333 0 1.41942E-5
1-26672604-G-A p.Thr182Ile missense AIM1L 1 76660 1.30446E-5 38330 0 NA
1-26672613-C-T p.Arg179Gln missense AIM1L 36 76736 4.69141E-4 38368 2 0.00363448
1-26672614-G-A p.Arg179Trp missense AIM1L 10 76732 1.30324E-4 38366 0 0.00207684
1-26672617-C-G p.Val178Leu missense AIM1L 2 76806 2.60396E-5 38403 0 1.59429E-4
1-26672622-C-G p.Arg176Pro missense AIM1L 2 76812 2.60376E-5 38406 0 3.18878E-5
1-26672622-C-T p.Arg176His missense AIM1L 1 76812 1.30188E-5 38406 0 NA
1-26672623-G-A p.Arg176Cys missense AIM1L 1 76810 1.30191E-5 38405 0 3.06285E-5
1-26672625-G-A p.Thr175Ile missense AIM1L 1 76874 1.30083E-5 38437 0 1.27535E-4
1-26672631-C-T p.Arg173Gln missense AIM1L 5 76954 6.49739E-5 38477 0 3.04488E-5
1-26672632-G-A p.Arg173* stop_gained AIM1L 1 76964 1.29931E-5 38482 0 2.02556E-5
1-26672633-G-A p.Tyr172Tyr synonymous AIM1L 10 76986 1.29894E-4 38493 0 1.59439E-4
1-26672641-C-T p.Glu170Lys missense AIM1L 1 76988 1.2989E-5 38494 0 3.20184E-5
1-26672642-G-A p.Leu169Leu synonymous AIM1L 14 77004 1.81809E-4 38502 0 2.30198E-4
1-26672642-G-C p.Leu169Leu synonymous AIM1L 3 77006 3.8958E-5 38503 0 1.00638E-5
1-26672646-C-G p.Ser168Thr missense AIM1L 1 77062 1.29766E-5 38531 0 5.00611E-6
1-26672647-T-A p.Ser168Cys missense AIM1L 51 77064 6.61788E-4 38532 0 0.00103627
1-26672649-C-T p.Arg167Gln missense AIM1L 10 77054 1.29779E-4 38527 0 6.53467E-5
1-26672650-G-A p.Arg167Trp missense AIM1L 2 77058 2.59545E-5 38529 0 9.80777E-5
1-26672698-G-A p.Arg151* stop_gained AIM1L 2 77734 2.57288E-5 38867 0 2.35292E-5
1-26672723-C-T p.Glu142Glu synonymous AIM1L 13 78524 1.65554E-4 39262 2 5.18135E-4
1-26672725-C-T p.Glu142Lys missense AIM1L 2 78590 2.54485E-5 39295 0 NA
1-26672736-A-C p.Met138Arg missense AIM1L 1 78828 1.26858E-5 39414 0 NA
1-26672749-A-C p.Cys134Gly missense AIM1L 14 79006 1.77202E-4 39503 0 7.18301E-5
1-26672751-G-T p.Pro133Gln missense AIM1L 1 79014 1.2656E-5 39507 0 1.79256E-5
1-26672775-C-T p.Arg125His missense AIM1L 1 79144 1.26352E-5 39572 0 NA
1-26672776-G-A p.Arg125Cys missense AIM1L 6 79148 7.58074E-5 39574 0 0.0015544
1-26672792-G-C p.Asp119Glu missense AIM1L 1 79224 1.26224E-5 39612 0 6.37999E-5
1-26672794-C-T p.Asp119Asn missense AIM1L 1 79234 1.26208E-5 39617 0 4.27489E-6
1-26672801-C-A p.Glu116Asp missense AIM1L 1 79274 1.26145E-5 39637 0 4.27095E-6
1-26672803-C-A p.Glu116* stop_gained AIM1L 2 79282 2.52264E-5 39641 0 NA
1-26672807-C-T p.Leu114Leu synonymous AIM1L 2 79288 2.52245E-5 39644 0 8.53781E-6
1-26672823-C-T p.Arg109Lys missense AIM1L 1 79338 1.26043E-5 39669 0 NA
1-26672837-A-T p.Pro104Pro synonymous AIM1L 1 79324 1.26065E-5 39662 0 NA
1-26672838-G-A p.Pro104Leu missense AIM1L 348 79322 0.00438718 39661 3 0.00902539
1-26672860-A-G p.Phe97Leu missense AIM1L 2 79378 2.51959E-5 39689 0 NA
1-26672861-G-T p.Ile96Ile synonymous AIM1L 2 79380 2.51953E-5 39690 0 5.55784E-5
1-26672867-T-C p.Gly94Gly synonymous AIM1L 7 79388 8.81745E-5 39694 0 3.1904E-5
1-26672869-C-T p.Gly94Arg missense AIM1L 2 79380 2.51953E-5 39690 0 NA
1-26672870-A-G p.His93His synonymous AIM1L 1 79382 1.25973E-5 39691 0 8.65831E-6
1-26672901-T-C p.Asp83Gly missense AIM1L 2 79394 2.51908E-5 39697 0 NA
1-26672903-C-T p.Arg82Arg synonymous AIM1L 1 79396 1.25951E-5 39698 0 NA
1-26672904-C-T p.Arg82Gln missense AIM1L 3 79394 3.77862E-5 39697 0 0.003125
1-26672905-G-A p.Arg82Trp missense AIM1L 1 79400 1.25945E-5 39700 0 8.73851E-6
1-26672911-C-G p.Gly80Arg missense AIM1L 1 79414 1.25922E-5 39707 0 NA
1-26672920-TCA-T p.Val76fs frameshift AIM1L 1 79424 1.25907E-5 39712 0 3.81117E-5
1-26672927-CTCT-C p.Glu74del disruptive_inframe_deletion AIM1L 1 79438 1.25884E-5 39719 0 NA
1-26672931-T-G p.Glu73Ala missense AIM1L 1 79438 1.25884E-5 39719 0 NA
1-26672935-C-T p.Glu72Lys missense AIM1L 10 79440 1.25881E-4 39720 1 1.34257E-4
1-26672935-C-A p.Glu72* stop_gained AIM1L 1 79440 1.25881E-5 39720 0 4.19555E-6
1-26672954-G-T p.Val65Val synonymous AIM1L 2 79442 2.51756E-5 39721 0 NA
1-26672961-A-G p.Val63Ala missense AIM1L 1 79452 1.25862E-5 39726 0 3.19142E-5
1-26672970-C-T p.Arg60Gln missense AIM1L 3 79452 3.77586E-5 39726 0 4.34896E-5
1-26672971-G-A p.Arg60* stop_gained AIM1L 7 79452 8.81035E-5 39726 1 3.18613E-5
1-26672973-C-T p.Arg59His missense AIM1L 10 79438 1.25884E-4 39719 0 0.0075
1-26672974-G-T p.Arg59Ser missense AIM1L 1 79434 1.25891E-5 39717 0 4.09507E-6
1-26672974-G-A p.Arg59Cys missense AIM1L 1 79434 1.25891E-5 39717 0 3.18715E-5
1-26672976-C-A p.Ser58Ile missense AIM1L 1 79436 1.25888E-5 39718 0 2.60969E-5
1-26672987-C-T p.Met54Ile missense AIM1L 2 79436 2.51775E-5 39718 0 6.37308E-5
1-26672993-C-T p.Lys52Lys synonymous AIM1L 2 79436 2.51775E-5 39718 0 NA
1-26672996-C-G p.Gln51His missense AIM1L 1 79416 1.25919E-5 39708 0 1.62974E-5
1-26672997-T-C p.Gln51Arg missense AIM1L 1 79410 1.25929E-5 39705 0 8.87233E-6
1-26672999-C-T p.Pro50Pro synonymous AIM1L 2 79400 2.51889E-5 39700 0 1.6304E-5
1-26673000-G-A p.Pro50Leu missense AIM1L 1 79392 1.25957E-5 39696 0 6.37755E-5
1-26673011-C-G p.Gln46His missense AIM1L 2 79352 2.52042E-5 39676 0 NA
1-26673048-T-C p.His34Arg missense AIM1L 1 79056 1.26493E-5 39528 0 4.18666E-6
1-26673055-T-A p.Ile32Phe missense AIM1L 1 78886 1.26765E-5 39443 0 3.43451E-5
1-26673056-C-A p.Glu31Asp missense AIM1L 1 78884 1.26768E-5 39442 0 1.29442E-5
1-26673068-G-A p.Pro27Pro synonymous AIM1L 3 78696 3.81214E-5 39348 0 4.06905E-5
1-26673068-G-C p.Pro27Pro synonymous AIM1L 1 78696 1.27071E-5 39348 0 NA
1-26673075-C-T p.Arg25Gln missense AIM1L 23 78560 2.9277E-4 39280 1 0.00207469
1-26673076-G-A p.Arg25Trp missense AIM1L 14774 78042 0.189308 39021 1358 0.26135
1-26673079-G-C p.Gln24Glu missense AIM1L 1 78516 1.27363E-5 39258 0 4.87691E-6
1-26673081-C-T p.Arg23Gln missense AIM1L 3 78596 3.81699E-5 39298 0 6.25E-4
1-26673082-G-A p.Arg23Trp missense AIM1L 1 78572 1.27272E-5 39286 0 0.001875
1-26673085-A-G p.Trp22Arg missense AIM1L 10 78598 1.2723E-4 39299 0 3.96024E-5
1-26673088-T-C p.Thr21Ala missense AIM1L 1 78560 1.27291E-5 39280 0 2.09899E-5
1-26673090-A-C p.Leu20Trp missense AIM1L 10 78538 1.27327E-4 39269 0 2.23214E-4
1-26673095-G-A p.Ala18Ala synonymous AIM1L 708 78456 0.00902417 39228 5 0.0111196
1-26673108-C-T p.Arg14Gln missense AIM1L 14582 77578 0.187966 38789 1300 0.272063
1-26673109-G-A p.Arg14* stop_gained AIM1L 2 78210 2.55722E-5 39105 0 5.70249E-6
1-26673111-G-A p.Ala13Val missense AIM1L 1 78108 1.28028E-5 39054 0 NA
1-26673114-T-G p.Lys12Thr missense AIM1L 1 78094 1.28051E-5 39047 0 NA
1-26673120-C-T p.Arg10Gln missense AIM1L 1 77822 1.28498E-5 38911 0 5.59639E-5
1-26673121-G-A p.Arg10Trp missense AIM1L 3 77816 3.85525E-5 38908 0 1.50075E-4
1-26673128-G-A p.Pro7Pro synonymous AIM1L 1 77678 1.28737E-5 38839 0 6.55549E-6
1-26673128-G-T p.Pro7Pro synonymous AIM1L 2 77678 2.57473E-5 38839 0 NA
1-26673135-C-G p.Gly5Ala missense AIM1L 5 77446 6.45611E-5 38723 0 NA
1-26673138-G-GCCT p.Glu3dup conservative_inframe_insertion AIM1L 610 77346 0.00788664 38673 17 0.0152443
1-26673143-C-T p.Glu2Glu synonymous AIM1L 3 77282 3.88189E-5 38641 0 4.19522E-4
1-26673163-A-G c.-15T>C 5_prime_UTR_premature_start_codon_gain AIM1L 2 76808 2.6039E-5 38404 0 1.61075E-5
1-26673210-A-G c.-55-7T>C splice_region AIM1L 4 75922 5.26856E-5 37961 0 NA
1-26680526-C-CTCTACTCACAGA c.-56_-56+1insTCTGTGAGTAGA splice_region AIM1L 3 41610 7.20981E-5 20805 0 NA
1-26680544-G-A c.-73C>T 5_prime_UTR_premature_start_codon_gain AIM1L 2 41662 4.80054E-5 20831 0 NA
1-26680591-G-A c.-120C>T 5_prime_UTR_premature_start_codon_gain AIM1L 6 41686 1.43933E-4 20843 0 9.56145E-5
1-26680606-G-A c.-135C>T 5_prime_UTR_premature_start_codon_gain AIM1L 8 41668 1.91994E-4 20834 0 1.59317E-4