Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
11-67430656-T-C p.Arg125Gly missense ALDH3B2 3 78594 3.81709E-5 39297 0 5.43547E-5
11-67430657-G-A p.His124His synonymous ALDH3B2 1 78732 1.27013E-5 39366 0 NA
11-67430665-C-T p.Gly122Arg missense ALDH3B2 2 79526 2.5149E-5 39763 0 3.18573E-5
11-67430666-G-A p.Asn121Asn synonymous ALDH3B2 1 79658 1.25537E-5 39829 0 6.10091E-5
11-67430671-A-G p.Ser120Pro missense ALDH3B2 1 80150 1.24766E-5 40075 0 NA
11-67430675-G-A p.Pro118Pro synonymous ALDH3B2 1 80334 1.2448E-5 40167 0 NA
11-67430683-C-T p.Val116Ile missense ALDH3B2 23 80646 2.85197E-4 40323 0 2.7743E-4
11-67430684-G-A p.Ser115Ser synonymous ALDH3B2 4 80792 4.95099E-5 40396 0 1.1491E-4
11-67430698-G-A p.His111Tyr missense ALDH3B2 7317 80908 0.090436 40454 337 0.0866062
11-67430710-G-T p.Leu107Ile missense ALDH3B2 2 81636 2.4499E-5 40818 0 2.55541E-5
11-67430711-C-A p.Gly378Val missense ALDH3B2 6 81592 7.35366E-5 40796 0 8.5147E-5
11-67430717-C-A p.Gly376Val missense ALDH3B2 2 81744 2.44666E-5 40872 0 NA
11-67430720-CA-AC p.Trp375Val missense ALDH3B2 180 81796 0.0022006 40898 0 NA
11-67430720-C-A p.Trp375Leu missense ALDH3B2 11 81800 1.34474E-4 40900 1 0.00462078
11-67430721-A-C p.Trp375Gly missense ALDH3B2 11 81782 1.34504E-4 40891 1 0.0045895
11-67430723-C-T p.Arg374His missense ALDH3B2 51 81752 6.23838E-4 40876 0 0.0020141
11-67430725-T-A p.Leu373Phe missense ALDH3B2 2 81812 2.44463E-5 40906 0 NA
11-67430729-A-G p.Leu372Pro missense ALDH3B2 1 81882 1.22127E-5 40941 0 1.67154E-5
11-67430746-G-A p.Arg95* stop_gained ALDH3B2 8 81944 9.76276E-5 40972 0 2.81905E-4
11-67430747-G-A p.Thr366Ile missense ALDH3B2 1 81978 1.21984E-5 40989 0 3.18593E-5
11-67430748-T-C p.Thr366Ala missense ALDH3B2 710 81954 0.0086634 40977 13 0.0158234
11-67430749-A-G p.Tyr94His missense ALDH3B2 1 81994 1.2196E-5 40997 0 NA
11-67430762-T-C p.His361Arg missense ALDH3B2 70059 79844 0.877448 39922 30869 0.93
11-67430762-TG-CA p.His361Cys missense ALDH3B2 4 82056 4.87472E-5 41028 1 NA
11-67430763-G-A p.His361Tyr missense ALDH3B2 42 82096 5.11596E-4 41048 0 1.91156E-4
11-67430787-C-T p.Gly353Ser missense ALDH3B2 3 82248 3.64751E-5 41124 0 3.98076E-5
11-67430788-G-A p.Arg81Trp missense ALDH3B2 3 82348 3.64308E-5 41174 0 3.18695E-5
11-67430792-G-A p.Pro351Leu missense ALDH3B2 1 82432 1.21312E-5 41216 0 NA
11-67430794-G-A p.Pro79Ser missense ALDH3B2 1 82438 1.21303E-5 41219 0 3.98061E-6
11-67430795-G-C p.Ala350Gly missense ALDH3B2 2 82428 2.42636E-5 41214 0 NA
11-67430797-G-A p.Arg78Cys missense ALDH3B2 7 82476 8.48732E-5 41238 0 1.99103E-5
11-67430807-G-T p.Thr346Asn missense ALDH3B2 2 82578 2.42195E-5 41289 0 NA
11-67430811-G-A p.Arg345Cys missense ALDH3B2 2 82548 2.42283E-5 41274 0 1.09888E-4
11-67430829-C-T p.Asp339Asn missense ALDH3B2 1 82488 1.2123E-5 41244 0 2.40423E-5
11-67430830-G-A p.Arg67* stop_gained ALDH3B2 1 82486 1.21233E-5 41243 0 8.7943E-6
11-67430832-A-AG p.Phe338fs frameshift ALDH3B2 4 82510 4.8479E-5 41255 0 NA
11-67430840-T-A p.Lys335Met missense ALDH3B2 4 82468 4.85037E-5 41234 0 1.27575E-4
11-67430842-G-A p.Gln63* stop_gained ALDH3B2 1 82450 1.21286E-5 41225 0 1.20948E-5
11-67430844-C-T p.Gly334Ser missense ALDH3B2 3 82394 3.64104E-5 41197 0 5.04032E-4
11-67430851-C-T p.Val60Ile missense ALDH3B2 1 82284 1.2153E-5 41142 0 NA
11-67430852-C-T p.Arg331Gln missense ALDH3B2 13 82246 1.58062E-4 41123 0 0.0020202
11-67430853-G-A p.Arg331Trp missense ALDH3B2 3 82210 3.64919E-5 41105 0 6.37836E-5
11-67430854-GC-G p.Gly330fs frameshift ALDH3B2 1 82206 1.21646E-5 41103 0 NA
11-67431128-C-T c.973+5G>A splice_region ALDH3B2 2 82954 2.41097E-5 41477 0 NA
11-67431133-C-T p.Gly325Ser missense+splice_region ALDH3B2 25 83044 3.01045E-4 41522 0 3.18735E-4
11-67431134-G-A p.Val324Val splice_region+synonymous ALDH3B2 1 83062 1.20392E-5 41531 0 8.40689E-6
11-67431142-C-T p.Gly322Arg missense ALDH3B2 2 83130 2.40587E-5 41565 0 6.37471E-5
11-67431143-G-A p.Phe321Phe synonymous ALDH3B2 1 83132 1.20291E-5 41566 0 5.03525E-4
11-67431150-A-G p.Val319Ala missense ALDH3B2 3 83208 3.60542E-5 41604 0 3.18796E-5
11-67431162-G-A p.Ser315Phe missense ALDH3B2 1 83214 1.20172E-5 41607 0 8.34126E-6
11-67431183-T-C p.Asn308Ser missense ALDH3B2 1 83204 1.20187E-5 41602 0 3.18939E-5
11-67431200-G-T p.Ser302Arg missense ALDH3B2 246 83186 0.00295723 41593 1 0.00541988
11-67431200-G-A p.Ser302Ser synonymous ALDH3B2 1 83186 1.20213E-5 41593 0 8.46797E-6
11-67431210-C-T p.Arg299Gln missense ALDH3B2 7 83162 8.41731E-5 41581 0 5.03525E-4
11-67431211-G-A p.Arg299Trp missense ALDH3B2 2 83158 2.40506E-5 41579 0 0.001875
11-67431217-G-A p.Leu297Leu synonymous ALDH3B2 2 83140 2.40558E-5 41570 0 1.91217E-4
11-67431218-C-T p.Met296Ile missense ALDH3B2 1 83130 1.20294E-5 41565 0 3.99179E-6
11-67431221-C-A p.Gln295His missense ALDH3B2 2 83124 2.40604E-5 41562 0 1.27462E-4
11-67431229-C-T p.Val293Met missense ALDH3B2 6 83082 7.22178E-5 41541 0 5.03525E-4
11-67431230-A-C p.Val292Val splice_region+synonymous ALDH3B2 2 83074 2.40749E-5 41537 0 NA
11-67431236-C-G c.874-4G>C splice_region ALDH3B2 1 82976 1.20517E-5 41488 0 NA
11-67431862-C-T c.873+5G>A splice_region ALDH3B2 1 82498 1.21215E-5 41249 0 NA
11-67431866-C-T c.873+1G>A splice_donor ALDH3B2 3 82404 3.6406E-5 41202 0 8.259E-6
11-67431869-G-C p.Gln291Glu missense+splice_region ALDH3B2 2 82484 2.42471E-5 41242 0 6.37511E-5
11-67431870-G-C p.Ser290Arg missense ALDH3B2 1 82474 1.2125E-5 41237 0 NA
11-67431874-CT-C p.Ser289fs frameshift ALDH3B2 2 82566 2.4223E-5 41283 0 1.1941E-5
11-67431887-C-T p.Ala285Thr missense ALDH3B2 34 82688 4.11184E-4 41344 0 5.03525E-4
11-67431888-G-C p.Tyr284* stop_gained ALDH3B2 3 82730 3.62625E-5 41365 0 0.00125
11-67431888-G-A c.158+4C>T splice_region ALDH3B2 1 82730 1.20875E-5 41365 0 7.95615E-6
11-67431894-G-A p.Ala52Ala splice_region+synonymous ALDH3B2 1 82812 1.20755E-5 41406 0 NA
11-67431898-A-G p.Leu281Pro missense ALDH3B2 2 82854 2.41388E-5 41427 0 8.24266E-6
11-67431905-TCTC-T p.Glu278del conservative_inframe_deletion ALDH3B2 2 82920 2.41196E-5 41460 0 NA
11-67431912-C-A p.Arg276Arg synonymous ALDH3B2 1 82966 1.20531E-5 41483 0 NA
11-67431913-C-G p.Arg276Pro missense ALDH3B2 26 82994 3.13276E-4 41497 0 6.25E-4
11-67431913-C-T p.Arg276Gln missense ALDH3B2 2 82994 2.40981E-5 41497 0 1.64785E-5
11-67431914-G-A p.Arg276Trp missense ALDH3B2 7843 82882 0.0946285 41441 400 0.0876133
11-67431920-T-C p.Ile274Val missense ALDH3B2 58 83042 6.98442E-4 41521 0 0.00149911
11-67431926-T-C p.Lys272Glu missense ALDH3B2 1 83066 1.20386E-5 41533 0 1.6478E-5
11-67431932-C-T p.Ala270Thr missense ALDH3B2 6 83072 7.22265E-5 41536 0 1.07376E-4
11-67431936-G-A p.Asp268Asp synonymous ALDH3B2 1 83072 1.20378E-5 41536 0 1.64769E-5
11-67431936-G-C p.Asp268Glu missense ALDH3B2 1 83074 1.20375E-5 41537 0 8.23845E-6
11-67431939-C-G p.Val267Val synonymous ALDH3B2 1 83080 1.20366E-5 41540 0 7.95368E-6
11-67431940-A-G p.Val267Ala missense ALDH3B2 1 83056 1.20401E-5 41528 0 NA
11-67431942-G-A p.Ser266Ser synonymous ALDH3B2 1 83050 1.20409E-5 41525 0 8.23873E-6
11-67431956-C-T p.Val262Met missense ALDH3B2 2 83046 2.4083E-5 41523 0 3.18837E-5
11-67431957-G-A p.Ile261Ile synonymous ALDH3B2 1 83034 1.20433E-5 41517 0 NA
11-67431970-G-A p.Pro257Leu missense ALDH3B2 209 82986 0.0025185 41493 0 0.00906344
11-67431972-C-T p.Gly256Gly synonymous ALDH3B2 1 82962 1.20537E-5 41481 0 3.97731E-6
11-67431974-C-T p.Gly256Arg missense ALDH3B2 334 82970 0.00402555 41485 12 0.0101346
11-67431975-G-A p.Phe255Phe synonymous ALDH3B2 2 82960 2.4108E-5 41480 0 3.29663E-5
11-67431980-TCTC-T p.Glu253del conservative_inframe_deletion ALDH3B2 1 82944 1.20563E-5 41472 0 NA
11-67431983-C-T p.Glu253Lys missense ALDH3B2 1 82940 1.20569E-5 41470 0 1.19316E-5
11-67431991-A-T p.Met250Lys missense ALDH3B2 1 82892 1.20639E-5 41446 0 NA
11-67431996-A-G p.Pro248Pro synonymous ALDH3B2 1 82844 1.20709E-5 41422 0 8.24797E-6
11-67432002-C-T p.Thr246Thr synonymous ALDH3B2 99 82756 0.00119629 41378 0 0.00267891
11-67432003-G-A p.Thr246Met missense ALDH3B2 5 82716 6.04478E-5 41358 0 6.60219E-5
11-67432006-T-C p.Glu245Gly missense ALDH3B2 17 82708 2.05542E-4 41354 0 8.35601E-5
11-67432006-T-G p.Glu245Ala missense ALDH3B2 2 82708 2.41815E-5 41354 0 NA
11-67432010-G-T p.Gln244Lys missense ALDH3B2 1 82652 1.20989E-5 41326 0 NA
11-67432013-C-T p.Val243Met missense ALDH3B2 1 82642 1.21004E-5 41321 0 7.43851E-5
11-67432015-T-C p.Asp242Gly missense ALDH3B2 1 82600 1.21065E-5 41300 0 NA
11-67432019-C-T p.Val241Met missense ALDH3B2 1 82566 1.21115E-5 41283 0 3.9813E-6
11-67432021-A-T p.Leu240Gln missense ALDH3B2 1 82552 1.21136E-5 41276 0 NA
11-67432026-C-T p.Thr238Thr synonymous ALDH3B2 4 82426 4.85284E-5 41213 0 3.18715E-5
11-67432026-C-G p.Thr238Thr synonymous ALDH3B2 2 82426 2.42642E-5 41213 0 9.56145E-5
11-67432027-G-A p.Thr238Met missense ALDH3B2 2 82418 2.42665E-5 41209 0 4.97851E-5
11-67432031-G-T p.Pro237Thr missense+splice_region ALDH3B2 1 82432 1.21312E-5 41216 0 2.79151E-5
11-67432033-G-A p.Ala236Val missense+splice_region ALDH3B2 2 82386 2.4276E-5 41193 0 1.66315E-5
11-67432038-G-A c.707-5C>T splice_region ALDH3B2 1 82254 1.21575E-5 41127 0 3.18817E-5
11-67432041-C-A c.707-8G>T splice_region ALDH3B2 1 82142 1.2174E-5 41071 0 NA
11-67432748-G-A c.706+8C>T splice_region ALDH3B2 1 82862 1.20683E-5 41431 0 3.18857E-5
11-67432755-C-T c.706+1G>A splice_donor ALDH3B2 7 82924 8.44146E-5 41462 0 4.1707E-5
11-67432756-C-T p.Ala236Thr missense+splice_region ALDH3B2 66 82942 7.95737E-4 41471 0 0.00302115
11-67432757-G-A p.Ile235Ile splice_region+synonymous ALDH3B2 1 82944 1.20563E-5 41472 0 1.24343E-5
11-67432758-A-G p.Ile235Thr missense+splice_region ALDH3B2 7 82972 8.43658E-5 41486 0 9.08618E-5
11-67432759-T-G p.Ile235Leu missense ALDH3B2 54 82976 6.50791E-4 41488 1 0.001875
11-67432759-TG-GT p.TyrIle234* stop_gained ALDH3B2 13 82978 1.56668E-4 41489 0 NA
11-67432760-G-T p.Tyr234* stop_gained ALDH3B2 54 82984 6.50728E-4 41492 1 0.001875
11-67432764-C-T p.Arg233His missense ALDH3B2 3 83002 3.61437E-5 41501 0 6.25E-4
11-67432765-G-A p.Arg233Cys missense ALDH3B2 2 83014 2.40923E-5 41507 0 5.03525E-4
11-67432765-G-T p.Arg233Ser missense ALDH3B2 1 83014 1.20462E-5 41507 0 NA
11-67432768-C-T p.Asp232Asn missense ALDH3B2 8 83026 9.63554E-5 41513 0 6.50809E-5
11-67432769-G-A p.Ser231Ser synonymous ALDH3B2 4 83046 4.81661E-5 41523 0 0.00151057
11-67432772-C-G p.Glu230Asp missense ALDH3B2 1 83068 1.20383E-5 41534 0 4.03897E-6
11-67432774-C-A p.Glu230* stop_gained ALDH3B2 1 83068 1.20383E-5 41534 0 NA
11-67432774-C-T p.Glu230Lys missense ALDH3B2 6 83066 7.22317E-5 41533 0 5.03525E-4
11-67432775-G-A p.Asn229Asn synonymous ALDH3B2 95 83054 0.00114383 41527 0 0.00223072
11-67432787-C-T p.Gly225Gly synonymous ALDH3B2 1 83086 1.20357E-5 41543 0 4.0016E-6
11-67432791-A-G p.Ile224Thr missense ALDH3B2 27 83068 3.25035E-4 41534 1 0.00112432
11-67432798-C-T p.Val222Met missense ALDH3B2 162 83060 0.0019504 41530 1 0.00302115
11-67432800-C-T p.Arg221His missense ALDH3B2 23 83042 2.76968E-4 41521 0 5.03525E-4
11-67432801-G-A p.Arg221Cys missense ALDH3B2 51 83038 6.14177E-4 41519 0 2.86807E-4
11-67432804-T-C p.Ser220Gly missense ALDH3B2 78934 78950 0.999797 39475 39461 1.0
11-67432805-G-A p.Cys219Cys synonymous ALDH3B2 13 83056 1.56521E-4 41528 0 5.03525E-4
11-67432808-G-T p.Gly218Gly synonymous ALDH3B2 1 83072 1.20378E-5 41536 0 2.47741E-5
11-67432818-GC-G p.Ala215fs frameshift ALDH3B2 1 83080 1.20366E-5 41540 0 3.18837E-5
11-67432821-C-T p.Arg214Gln missense ALDH3B2 4 83078 4.81475E-5 41539 0 0.00100705
11-67432822-G-A p.Arg214Trp missense ALDH3B2 19 83068 2.28728E-4 41534 0 0.00125
11-67432822-G-T p.Arg214Arg synonymous ALDH3B2 6 83072 7.22265E-5 41536 0 1.91266E-4
11-67432827-C-T p.Arg212Gln missense ALDH3B2 70 83108 8.42278E-4 41554 0 5.73687E-4
11-67432828-G-A p.Arg212Trp missense ALDH3B2 3 83102 3.61002E-5 41551 0 7.17171E-5
11-67432830-T-G p.Gln211Pro missense ALDH3B2 1 83108 1.20325E-5 41554 0 8.25328E-6
11-67432832-G-T p.Phe210Leu missense ALDH3B2 1 83118 1.20311E-5 41559 0 1.19477E-5
11-67432842-TGGTTGATGATGTGGCCCA-T p.Leu201_Asn206del disruptive_inframe_deletion ALDH3B2 1 83156 1.20256E-5 41578 0 3.98092E-6
11-67432854-T-C p.His203Arg missense ALDH3B2 80286 82496 0.973211 41248 39223 0.99625
11-67432869-G-A p.Ser198Phe missense ALDH3B2 523 83132 0.0062912 41566 14 0.0166359
11-67432871-G-C p.Ser197Arg missense ALDH3B2 1 83142 1.20276E-5 41571 0 8.2394E-6
11-67432871-G-A p.Ser197Ser synonymous ALDH3B2 1 83142 1.20276E-5 41571 0 3.18715E-5
11-67432872-C-G p.Ser197Thr missense ALDH3B2 1 83128 1.20296E-5 41564 0 NA
11-67432876-G-C p.Gln196Glu missense ALDH3B2 2 83162 2.40494E-5 41581 0 8.23981E-6
11-67432880-G-C p.Asp194Glu missense ALDH3B2 2 83160 2.405E-5 41580 0 NA
11-67432882-C-T p.Asp194Asn missense ALDH3B2 2 83126 2.40599E-5 41563 0 6.37714E-5
11-67432885-C-T p.Asp193Asn missense ALDH3B2 7 83128 8.42075E-5 41564 0 5.76768E-5
11-67432886-G-A p.Gly192Gly synonymous ALDH3B2 7 83132 8.42034E-5 41566 0 2.23129E-4
11-67432894-A-T p.Phe190Ile missense ALDH3B2 1 83158 1.20253E-5 41579 0 8.23968E-6
11-67432896-C-T p.Arg189His missense ALDH3B2 6 83146 7.21622E-5 41573 0 6.25E-4
11-67432897-G-C p.Arg189Gly missense ALDH3B2 1 83148 1.20267E-5 41574 0 5.03525E-4
11-67432901-G-A p.Ile187Ile synonymous ALDH3B2 1 83122 1.20305E-5 41561 0 NA
11-67432910-C-T p.Gln184Gln synonymous ALDH3B2 3 83108 3.60976E-5 41554 0 3.18246E-5
11-67432918-C-T p.Ala182Thr missense ALDH3B2 2 83098 2.4068E-5 41549 0 5.03525E-4
11-67432919-G-A p.Pro181Pro synonymous ALDH3B2 1 83124 1.20302E-5 41562 0 7.36085E-4
11-67432942-C-T p.Glu174Lys missense ALDH3B2 2 83164 2.40489E-5 41582 0 4.14594E-4
11-67432943-G-A p.Pro173Pro synonymous ALDH3B2 4 83170 4.80943E-5 41585 0 0.00100705
11-67432952-C-T p.Leu170Leu synonymous ALDH3B2 1 83180 1.20221E-5 41590 0 3.97823E-6
11-67432957-C-T p.Val169Ile missense ALDH3B2 21 83186 2.52446E-4 41593 0 0.0020141
11-67432958-G-A p.Tyr168Tyr synonymous ALDH3B2 12 83170 1.44283E-4 41585 0 0.00125
11-67432962-T-G p.Asp167Ala missense ALDH3B2 1 83162 1.20247E-5 41581 0 NA
11-67432964-AGGGGCCACGCAGGTCT-A p.Gln161fs frameshift ALDH3B2 1 83182 1.20218E-5 41591 0 NA
11-67432971-A-T p.Val164Glu missense ALDH3B2 2 83158 2.40506E-5 41579 0 NA
11-67432972-C-T p.Val164Met missense ALDH3B2 4 83152 4.81047E-5 41576 0 6.5925E-5
11-67432973-G-T p.Cys163* stop_gained ALDH3B2 7 83154 8.41812E-5 41577 0 1.91546E-4
11-67432973-G-A p.Cys163Cys synonymous ALDH3B2 1 83154 1.20259E-5 41577 0 3.19244E-5
11-67432975-AG-A p.Cys163fs frameshift ALDH3B2 2 83158 2.40506E-5 41579 0 8.24049E-6
11-67432982-G-A p.Gly160Gly synonymous ALDH3B2 1 83154 1.20259E-5 41577 0 9.06454E-5
11-67432985-G-T p.Ala159Ala synonymous ALDH3B2 18 83156 2.16461E-4 41578 0 3.19163E-4
11-67432985-G-A p.Ala159Ala synonymous ALDH3B2 3 83158 3.60759E-5 41579 0 6.25E-4
11-67432988-A-G p.Asn158Asn synonymous ALDH3B2 2 83166 2.40483E-5 41583 0 5.03525E-4
11-67432988-A-T p.Asn158Lys missense ALDH3B2 1 83166 1.20241E-5 41583 0 NA
11-67432991-G-A p.Phe157Phe synonymous ALDH3B2 1 83176 1.20227E-5 41588 0 8.24103E-6
11-67433003-C-T p.Trp153* stop_gained ALDH3B2 2 83188 2.40419E-5 41594 0 3.97772E-6
11-67433006-G-A p.Ala152Ala synonymous ALDH3B2 1 83186 1.20213E-5 41593 0 NA
11-67433007-G-C p.Ala152Gly missense ALDH3B2 1 83172 1.20233E-5 41586 0 NA
11-67433008-C-T p.Ala152Thr missense ALDH3B2 2 83170 2.40471E-5 41585 0 3.97776E-6
11-67433011-C-T p.Val151Met missense ALDH3B2 4 83152 4.81047E-5 41576 0 5.03525E-4
11-67433012-G-A p.Arg150Arg synonymous ALDH3B2 65 83134 7.8187E-4 41567 1 8.87047E-4
11-67433012-G-T p.Arg150Arg synonymous ALDH3B2 6 83134 7.21726E-5 41567 0 7.41779E-5
11-67433013-C-T p.Arg150His missense ALDH3B2 28 83120 3.36862E-4 41560 0 0.00100705
11-67433014-G-A p.Arg150Cys missense ALDH3B2 4 83126 4.81197E-5 41563 0 8.35335E-5
11-67433020-C-T p.Ala148Thr missense ALDH3B2 14 83096 1.6848E-4 41548 0 0.00966137
11-67433023-C-T p.Val147Met missense ALDH3B2 190 83084 0.00228684 41542 1 0.0040282
11-67433023-CG-TC p.ThrVal146ThrMet missense ALDH3B2 1 83086 1.20357E-5 41543 0 NA
11-67433024-G-A p.Thr146Thr synonymous ALDH3B2 307 83060 0.00369612 41530 4 0.00813345
11-67433035-C-T p.Asp143Asn missense ALDH3B2 2 82966 2.41063E-5 41483 0 8.24538E-6
11-67433036-G-A p.Cys142Cys synonymous ALDH3B2 33 82954 3.97811E-4 41477 0 0.00125
11-67433037-C-T p.Cys142Tyr missense ALDH3B2 2 82950 2.41109E-5 41475 0 3.97788E-6
11-67433039-G-GAC p.Asn141fs frameshift ALDH3B2 4 82954 4.82195E-5 41477 0 NA
11-67433040-T-G p.Asn141Thr missense ALDH3B2 4 82938 4.82288E-5 41469 0 NA
11-67433041-TGTC-T p.Asp140del conservative_inframe_deletion ALDH3B2 2 82938 2.41144E-5 41469 0 7.95507E-6
11-67433042-G-T p.Asp140Glu missense ALDH3B2 1 82918 1.20601E-5 41459 0 3.1904E-5
11-67433045-G-A p.Asp139Asp synonymous ALDH3B2 31 82888 3.73999E-4 41444 0 0.00100705
11-67433045-G-T p.Asp139Glu missense ALDH3B2 9 82890 1.08578E-4 41445 0 7.55804E-5
11-67433057-G-A p.Pro135Pro synonymous ALDH3B2 5 82688 6.04683E-5 41344 0 3.19E-5
11-67433066-G-GC p.Lys133fs frameshift ALDH3B2 1 82454 1.2128E-5 41227 0 1.99022E-5
11-67433066-GC-G p.Gly132fs frameshift ALDH3B2 3 82454 3.63839E-5 41227 0 1.65224E-5
11-67433067-C-T p.Gly132Asp missense ALDH3B2 2 82442 2.42595E-5 41221 0 NA
11-67433070-C-T p.Gly131Glu missense ALDH3B2 1 82412 1.21342E-5 41206 0 NA
11-67433091-G-A p.Thr124Met missense ALDH3B2 2 81802 2.44493E-5 40901 0 5.18379E-5
11-67433095-G-T p.Leu123Met missense ALDH3B2 4 81688 4.89668E-5 40844 0 5.03525E-4
11-67433096-G-A p.His122His synonymous ALDH3B2 2 81656 2.4493E-5 40828 0 NA
11-67433103-G-A p.Thr120Ile missense ALDH3B2 1 81236 1.23098E-5 40618 0 NA
11-67433121-A-G p.Ile114Thr missense ALDH3B2 2 79318 2.5215E-5 39659 0 2.54669E-5
11-67433133-C-T p.Arg110His missense ALDH3B2 5 77520 6.44995E-5 38760 0 5.18466E-5
11-67433134-G-A p.Arg110Cys missense ALDH3B2 1 77324 1.29326E-5 38662 0 3.19061E-5
11-67433148-C-T c.320-6G>A splice_region ALDH3B2 168 75916 0.00221297 37958 1 0.0050776
11-67433149-G-A c.320-7C>T splice_region ALDH3B2 10 75918 1.31721E-4 37959 0 9.57426E-5
11-67433586-C-T c.319+7G>A splice_region ALDH3B2 2 82572 2.42213E-5 41286 0 4.94772E-5
11-67433587-C-T c.319+6G>A splice_region ALDH3B2 5 82580 6.05473E-5 41290 0 5.17112E-5
11-67433595-G-C p.Thr106Arg missense+splice_region ALDH3B2 1 82674 1.20957E-5 41337 0 3.29636E-5
11-67433596-TGAA-T p.Phe105del conservative_inframe_deletion ALDH3B2 3 82682 3.62836E-5 41341 0 1.40093E-4
11-67433604-A-T p.Ile103Asn missense ALDH3B2 1 82774 1.20811E-5 41387 0 3.19203E-5
11-67433608-A-G p.Tyr102His missense ALDH3B2 2 82810 2.41517E-5 41405 0 1.19308E-5
11-67433619-T-A p.His98Leu missense ALDH3B2 3 82820 3.62231E-5 41410 0 1.59079E-5
11-67433622-T-C p.Glu97Gly missense ALDH3B2 4 82820 4.82975E-5 41410 0 3.18817E-5
11-67433627-C-T p.Leu95Leu synonymous ALDH3B2 1 82806 1.20764E-5 41403 0 NA
11-67433635-C-T p.Gly93Arg missense ALDH3B2 2 82790 2.41575E-5 41395 0 8.23805E-6
11-67433637-G-C p.Thr92Arg missense ALDH3B2 1 82778 1.20805E-5 41389 0 NA
11-67433648-T-C p.Gly88Gly synonymous ALDH3B2 3 82684 3.62827E-5 41342 0 1.59091E-5
11-67433650-C-T p.Gly88Arg missense ALDH3B2 16 82680 1.93517E-4 41340 0 6.59055E-5
11-67433662-C-T p.Val84Met missense ALDH3B2 16 82572 1.9377E-4 41286 0 6.25E-4
11-67433671-A-C p.Cys81Gly missense ALDH3B2 1 82454 1.2128E-5 41227 0 NA
11-67433780-C-A c.237+7G>T splice_region ALDH3B2 1 75356 1.32703E-5 37678 0 1.07982E-5
11-67433786-C-G c.237+1G>C splice_donor ALDH3B2 1 74918 1.33479E-5 37459 0 1.09302E-5
11-67433801-G-A p.Gln75* stop_gained ALDH3B2 3 73614 4.07531E-5 36807 0 6.25E-4
11-67433833-C-T p.Gly64Asp missense ALDH3B2 1 69944 1.42972E-5 34972 0 NA
11-67433839-C-A p.Ser62Ile missense ALDH3B2 1 69770 1.43328E-5 34885 0 NA
11-67433848-G-C p.Ser59* stop_gained ALDH3B2 2 69244 2.88834E-5 34622 0 NA
11-67433850-C-T p.Pro58Pro synonymous ALDH3B2 25 68886 3.62918E-4 34443 0 2.20035E-4
11-67433851-G-A p.Pro58Leu missense ALDH3B2 2 68780 2.90782E-5 34390 0 4.60968E-5
11-67433861-C-T p.Val55Met missense ALDH3B2 1 68352 1.46301E-5 34176 0 NA
11-67433864-C-T p.Val54Met missense ALDH3B2 4 68172 5.86751E-5 34086 0 0.00100806
11-67433869-C-T p.Ser52Asn missense ALDH3B2 59487 67528 0.880923 33764 26392 0.92625
11-67433873-C-T c.152-1G>A splice_acceptor ALDH3B2 3 68696 4.36707E-5 34348 0 6.25E-4
11-67434037-C-A c.151+8G>T splice_region ALDH3B2 1 82070 1.21847E-5 41035 0 NA
11-67434048-C-T p.Ala50Thr missense ALDH3B2 37 82274 4.49717E-4 41137 0 0.00128889
11-67434049-G-A p.Ala49Ala synonymous ALDH3B2 1 82298 1.2151E-5 41149 0 1.19642E-5
11-67434051-C-T p.Ala49Thr missense ALDH3B2 1 82308 1.21495E-5 41154 0 6.25E-4
11-67434052-G-A p.Leu48Leu synonymous ALDH3B2 1 82382 1.21386E-5 41191 0 8.28555E-6
11-67434057-C-T p.Ala47Thr missense ALDH3B2 23 82426 2.79038E-4 41213 0 0.003125
11-67434058-G-A p.Gly46Gly synonymous ALDH3B2 4 82446 4.85166E-5 41223 0 1.65659E-5
11-67434069-G-A p.Leu43Phe missense ALDH3B2 1 82662 1.20975E-5 41331 0 8.27061E-6
11-67434073-C-T p.Leu41Leu synonymous ALDH3B2 154 82698 0.0018622 41349 1 0.0040282
11-67434078-T-G p.Thr40Pro missense ALDH3B2 943 82714 0.0114007 41357 24 0.0246727
11-67434083-T-C p.Asn38Ser missense ALDH3B2 2 82776 2.41616E-5 41388 0 3.20082E-5
11-67434089-G-A p.Pro36Leu missense ALDH3B2 54 82862 6.51686E-4 41431 0 0.00100705
11-67434097-C-A p.Trp33Cys missense ALDH3B2 4 82916 4.82416E-5 41458 0 3.97858E-6
11-67434106-G-A p.Ile30Ile synonymous ALDH3B2 1 82980 1.20511E-5 41490 0 3.19163E-5
11-67434116-A-C p.Val27Gly missense ALDH3B2 1 83036 1.2043E-5 41518 0 3.18979E-5
11-67434121-G-A p.Gly25Gly synonymous ALDH3B2 68 83062 8.18666E-4 41531 0 0.00169037
11-67434128-G-C p.Pro23Arg missense ALDH3B2 8 83100 9.62696E-5 41550 1 8.25341E-6
11-67434129-G-A p.Pro23Ser missense ALDH3B2 1 83102 1.20334E-5 41551 0 5.03525E-4
11-67434132-C-T p.Glu22Lys missense ALDH3B2 1 83120 1.20308E-5 41560 0 NA
11-67434148-C-T p.Ser16Ser synonymous ALDH3B2 233 83120 0.00280318 41560 2 0.00705124
11-67434149-G-A p.Ser16Leu missense ALDH3B2 3 83114 3.6095E-5 41557 0 5.03525E-4
11-67434154-C-T p.Leu14Leu synonymous ALDH3B2 2 83130 2.40587E-5 41565 0 NA
11-67434160-CA-TG p.Met12Thr missense ALDH3B2 558 83112 0.00671383 41556 5 NA
11-67434160-C-T p.Met12Ile missense ALDH3B2 37 83120 4.4514E-4 41560 3 0.0236657
11-67434161-A-G p.Met12Thr missense ALDH3B2 400 83118 0.00481244 41559 19 0.0246727
11-67434164-A-T p.Phe11Tyr missense+splice_region ALDH3B2 1 83102 1.20334E-5 41551 0 NA
11-67434167-T-C c.31-2A>G splice_acceptor ALDH3B2 1 83080 1.20366E-5 41540 0 NA
11-67434386-G-A p.Ser7Ser synonymous ALDH3B2 1 83090 1.20351E-5 41545 0 3.97706E-6
11-67434390-C-T p.Arg6Gln missense ALDH3B2 112 83122 0.00134742 41561 0 0.00113347
11-67434391-G-A p.Arg6Trp missense ALDH3B2 3 83140 3.60837E-5 41570 0 8.24103E-5
11-67434431-G-A c.-25C>T 5_prime_UTR_premature_start_codon_gain ALDH3B2 1 82990 1.20496E-5 41495 0 1.98896E-5
11-67434443-G-A c.-37C>T 5_prime_UTR_premature_start_codon_gain ALDH3B2 15 82820 1.81116E-4 41410 0 1.11406E-4
11-67434491-T-C c.-81-4A>G splice_region ALDH3B2 2 80734 2.47727E-5 40367 0 NA
11-67434492-G-A c.-81-5C>T splice_region ALDH3B2 8 80728 9.90982E-5 40364 0 1.27478E-4
11-67434493-G-A c.-81-6C>T splice_region ALDH3B2 283 80634 0.00350969 40317 5 0.00656636
11-67434493-G-T c.-81-6C>A splice_region ALDH3B2 1 80646 1.23999E-5 40323 0 3.18756E-5
11-67434936-C-T c.-82+8G>A splice_region ALDH3B2 21109 46818 0.450874 23409 5056 0.381616
11-67434946-T-C c.-84A>G 5_prime_UTR_premature_start_codon_gain ALDH3B2 1 48594 2.05787E-5 24297 0 NA
11-67434967-C-T c.-105G>A 5_prime_UTR_premature_start_codon_gain ALDH3B2 1 49600 2.01613E-5 24800 0 NA
11-67435013-C-A c.-151G>T 5_prime_UTR_premature_start_codon_gain ALDH3B2 3 51580 5.81621E-5 25790 0 3.19264E-5
11-67435030-G-A c.-168C>T 5_prime_UTR_premature_start_codon_gain ALDH3B2 1 51220 1.95236E-5 25610 0 3.19326E-5
11-67435041-G-A c.-179C>T 5_prime_UTR_premature_start_codon_gain ALDH3B2 1 51106 1.95672E-5 25553 0 NA
11-67435071-C-T c.-209G>A 5_prime_UTR_premature_start_codon_gain ALDH3B2 1 50660 1.97394E-5 25330 0 6.3861E-5
11-67435094-G-A c.-232C>T 5_prime_UTR_premature_start_codon_gain ALDH3B2 2 49546 4.03665E-5 24773 0 NA
11-67441906-A-C c.-245+2T>G splice_donor ALDH3B2 585 626 0.934505 313 277 0.943125
11-67442029-G-A c.-366C>T 5_prime_UTR_premature_start_codon_gain ALDH3B2 1 3310 3.02115E-4 1655 0 3.18715E-5