Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
9-19408944-T-C c.-286T>C 5_prime_UTR_premature_start_codon_gain ACER2 3 31128 9.63763E-5 15564 0 3.19387E-5
9-19408971-C-T c.-259C>T 5_prime_UTR_premature_start_codon_gain ACER2 1 37664 2.65506E-5 18832 0 3.18735E-5
9-19408993-C-T c.-237C>T 5_prime_UTR_premature_start_codon_gain ACER2 1 46690 2.14179E-5 23345 0 NA
9-19409039-C-G c.-191C>G 5_prime_UTR_premature_start_codon_gain ACER2 1 63530 1.57406E-5 31765 0 3.18613E-5
9-19409089-G-T p.Ala3Ser missense ACER2 1 73774 1.35549E-5 36887 0 0.00153689
9-19409092-C-A p.Pro4Thr missense ACER2 1 74402 1.34405E-5 37201 0 NA
9-19409094-G-C p.Pro4Pro synonymous ACER2 201 74598 0.00269444 37299 0 0.00815558
9-19409097-C-T c.-133C>T 5_prime_UTR_premature_start_codon_gain ACER2 1 75200 1.32979E-5 37600 0 3.18593E-5
9-19409100-G-C p.Trp6Cys missense ACER2 6 75452 7.95208E-5 37726 0 7.6549E-5
9-19409104-G-T p.Asp8Tyr missense ACER2 1 75466 1.3251E-5 37733 0 8.92085E-6
9-19409107-C-A p.Gln9Lys missense ACER2 157 75496 0.00207958 37748 2 0.00462107
9-19409112-G-T p.Leu10Leu synonymous ACER2 1 75662 1.32167E-5 37831 0 2.01605E-5
9-19409135-A-C p.Asp18Ala missense ACER2 1 74884 1.3354E-5 37442 0 4.27489E-6
9-19409136-C-G p.Asp18Glu missense ACER2 3 74878 4.00652E-5 37439 0 3.24233E-5
9-19409142-C-T p.Cys20Cys synonymous ACER2 1 74242 1.34695E-5 37121 0 4.28872E-6
9-19409145-G-A p.Glu21Glu synonymous ACER2 1 74336 1.34524E-5 37168 0 2.14122E-5
9-19409150-A-G p.Asn23Ser missense ACER2 1 73904 1.35311E-5 36952 0 1.61603E-5
9-19409151-C-G p.Asn23Lys missense ACER2 1 73840 1.35428E-5 36920 0 NA
9-19409153-A-G p.Tyr24Cys missense ACER2 1 73540 1.3598E-5 36770 0 NA
9-19409154-C-A p.Tyr24* stop_gained ACER2 1 73454 1.3614E-5 36727 0 1.64674E-5
9-19409155-A-G p.Thr25Ala missense ACER2 6 73274 8.18844E-5 36637 0 1.64783E-5
9-19409160-C-A p.Ile26Ile synonymous ACER2 9 72610 1.2395E-4 36305 0 0.00125
9-19409160-C-G p.Ile26Met missense ACER2 2 72612 2.75437E-5 36306 0 8.71954E-6
9-19409160-C-T c.-70C>T 5_prime_UTR_premature_start_codon_gain ACER2 1 72612 1.37718E-5 36306 0 4.35977E-6
9-19409161-G-T p.Val27Leu missense ACER2 2 72438 2.76098E-5 36219 0 NA
9-19409183-A-G p.Tyr34Cys missense ACER2 1 68624 1.45722E-5 34312 0 8.11359E-5
9-19409188-A-G p.Thr36Ala missense+splice_region ACER2 2 66944 2.98757E-5 33472 0 5.10788E-6
9-19409189-C-G p.Thr36Arg missense+splice_region ACER2 1 66476 1.5043E-5 33238 0 4.879E-5
9-19409190-G-A p.Thr36Thr splice_region+synonymous ACER2 1 66432 1.5053E-5 33216 0 2.42377E-5
9-19409196-G-A c.108+6G>A splice_region ACER2 1 64656 1.54665E-5 32328 0 NA
9-19409197-G-A c.108+7G>A splice_region ACER2 1 64172 1.55831E-5 32086 0 NA
9-19423855-T-A c.109-5T>A splice_region ACER2 1 82760 1.20831E-5 41380 0 8.24117E-6
9-19423860-A-G p.Ile37Val missense+splice_region ACER2 2 82848 2.41406E-5 41424 0 NA
9-19423862-C-G p.Ile37Met missense+splice_region ACER2 3 82896 3.61899E-5 41448 0 2.47202E-5
9-19423871-C-G p.Val40Val synonymous ACER2 1 82988 1.20499E-5 41494 0 NA
9-19423879-T-C p.Phe43Ser missense ACER2 2 83014 2.40923E-5 41507 0 3.97839E-6
9-19423889-G-A p.Pro46Pro synonymous ACER2 1 83018 1.20456E-5 41509 0 3.19183E-5
9-19423894-T-G p.Ile48Ser missense ACER2 1 83068 1.20383E-5 41534 0 8.23778E-6
9-19423897-G-T p.Cys49Phe missense ACER2 1 83088 1.20354E-5 41544 0 8.23764E-6
9-19423901-G-A p.Met1? start_lost ACER2 1 83108 1.20325E-5 41554 0 NA
9-19423903-G-A p.Cys51Tyr missense ACER2 1 83122 1.20305E-5 41561 0 3.18552E-5
9-19423907-G-A p.Leu52Leu synonymous ACER2 1 83146 1.2027E-5 41573 0 2.47129E-5
9-19423911-C-T p.Arg54Cys missense ACER2 1 83142 1.20276E-5 41571 0 3.18203E-5
9-19423912-G-A p.Arg54His missense ACER2 1 83132 1.20291E-5 41566 0 1.64753E-5
9-19423919-T-C p.Tyr56Tyr synonymous ACER2 2 83170 2.40471E-5 41585 0 7.95406E-6
9-19423938-G-A p.Gly63Ser missense ACER2 1 83160 1.2025E-5 41580 0 NA
9-19423940-C-A p.Gly63Gly synonymous ACER2 13 83148 1.56348E-4 41574 0 0.00100705
9-19423959-CTT-C p.Leu71fs frameshift ACER2 1 83098 1.2034E-5 41549 0 3.9769E-6
9-19423964-G-T p.Leu71Phe missense ACER2 1 83038 1.20427E-5 41519 0 NA
9-19423973-G-T p.Val74Val splice_region+synonymous ACER2 1 82976 1.20517E-5 41488 0 NA
9-19423982-G-T c.223+8G>T splice_region ACER2 1 82870 1.20671E-5 41435 0 3.1835E-5
9-19424690-G-T c.224-8G>T splice_region ACER2 4 83098 4.81359E-5 41549 0 1.64864E-5
9-19424700-A-G p.Ile76Val missense+splice_region ACER2 1 83244 1.20129E-5 41622 0 8.23995E-6
9-19424703-G-A p.Gly77Arg missense ACER2 1 83270 1.20091E-5 41635 0 NA
9-19424715-T-C p.Phe81Leu missense ACER2 1 83318 1.20022E-5 41659 0 NA
9-19424725-C-T p.Thr84Ile missense ACER2 2 83340 2.39981E-5 41670 0 NA
9-19424726-C-T p.Thr84Thr synonymous ACER2 4 83346 4.79927E-5 41673 0 1.19315E-5
9-19424741-T-A p.Gly89Gly synonymous ACER2 2 83342 2.39975E-5 41671 0 1.19301E-5
9-19424765-C-T p.Val97Val synonymous ACER2 1 83352 1.19973E-5 41676 0 1.64747E-5
9-19424775-C-T p.Leu101Leu synonymous ACER2 7 83346 8.39872E-5 41673 0 2.22887E-4
9-19424810-G-T p.Arg112Ser missense ACER2 2 83300 2.40096E-5 41650 0 NA
9-19424829-C-T p.Arg119Trp missense ACER2 1 83272 1.20088E-5 41636 0 6.25E-4
9-19424830-G-A p.Arg119Gln missense ACER2 8 83270 9.6073E-5 41635 0 1.5916E-5
9-19424838-C-T p.Arg122Trp missense+splice_region ACER2 1 83242 1.20132E-5 41621 0 1.99018E-5
9-19424844-G-A c.365+5G>A splice_region ACER2 1 83218 1.20166E-5 41609 0 NA
9-19434949-A-G p.Arg124Gly missense ACER2 2 83344 2.39969E-5 41672 0 2.14299E-4
9-19434955-A-C p.Lys126Gln missense ACER2 2 83358 2.39929E-5 41679 0 8.2409E-6
9-19434962-T-G p.Val128Gly missense ACER2 1 83368 1.1995E-5 41684 0 NA
9-19434977-C-G p.Ser133Cys missense ACER2 1 83374 1.19941E-5 41687 0 NA
9-19434980-C-T p.Ala134Val missense ACER2 1132 83348 0.0135816 41674 11 0.023846
9-19434981-G-T p.Ala134Ala synonymous ACER2 1 83374 1.19941E-5 41687 0 3.97627E-6
9-19434982-G-A p.Val135Ile missense ACER2 1 83372 1.19944E-5 41686 0 1.64742E-5
9-19434986-C-T p.Thr136Met missense ACER2 2 83372 2.39889E-5 41686 0 4.11855E-5
9-19434987-G-A p.Thr136Thr synonymous ACER2 2 83378 2.39871E-5 41689 0 2.38574E-5
9-19434990-G-A p.Thr137Thr synonymous ACER2 1 83370 1.19947E-5 41685 0 3.97621E-6
9-19434993-C-G p.Cys138Trp missense ACER2 1 83378 1.19936E-5 41689 0 NA
9-19434999-A-G p.Ala140Ala synonymous ACER2 1 83382 1.1993E-5 41691 0 3.18674E-5
9-19435009-C-G p.Pro144Ala missense ACER2 2 83384 2.39854E-5 41692 0 1.98812E-5
9-19435011-T-C p.Pro144Pro synonymous ACER2 766 83356 0.0091895 41678 5 0.0151057
9-19435019-A-G p.Asn147Ser missense ACER2 1 83378 1.19936E-5 41689 0 7.95241E-6
9-19435031-T-A p.Leu151Gln missense ACER2 1 83372 1.19944E-5 41686 0 3.97624E-6
9-19435059-A-C p.Ala160Ala synonymous ACER2 1 83350 1.19976E-5 41675 0 8.24076E-6
9-19435060-C-T p.Leu161Leu synonymous ACER2 1 83350 1.19976E-5 41675 0 3.97814E-6
9-19435068-C-T p.Ile163Ile synonymous ACER2 13 83342 1.55984E-4 41671 0 6.25E-4
9-19435077-A-G p.Leu166Leu synonymous ACER2 1 83334 1.19999E-5 41667 0 8.25205E-6
9-19435082-G-C p.Arg168Thr missense+splice_region ACER2 1 83322 1.20016E-5 41661 0 NA
9-19446183-C-CT p.His120fs frameshift ACER2 1 82106 1.21794E-5 41053 0 3.18715E-5
9-19446198-C-T p.Arg125* stop_gained ACER2 1 82690 1.20934E-5 41345 0 3.19101E-5
9-19446199-G-A p.Arg125Gln missense ACER2 2 82762 2.41657E-5 41381 0 4.12242E-5
9-19446199-GAAGGAGACACAGGAAAGGTGGCCAGC-G p.His128fs frameshift ACER2 1 82762 1.20828E-5 41381 0 NA
9-19446201-A-G p.Arg126Gly missense ACER2 2 82886 2.41295E-5 41443 0 1.19442E-5
9-19446208-A-G p.His128Arg missense ACER2 1 83022 1.2045E-5 41511 0 8.24035E-6
9-19446220-G-T p.Gly132Val missense ACER2 17 83132 2.04494E-4 41566 0 3.51012E-4
9-19446222-C-T p.Gln133* stop_gained ACER2 1 83134 1.20288E-5 41567 0 NA
9-19446232-G-A p.Gly136Asp missense ACER2 1 83244 1.20129E-5 41622 0 4.11841E-5
9-19446232-G-T p.Gly136Val missense ACER2 1 83244 1.20129E-5 41622 0 NA
9-19446234-G-A p.Gly137Arg missense ACER2 1 83254 1.20114E-5 41627 0 NA
9-19446234-G-T p.Gly137* stop_gained ACER2 1 83254 1.20114E-5 41627 0 NA
9-19446246-TG-T p.Ter141fs frameshift ACER2 2 83308 2.40073E-5 41654 0 6.38081E-5
9-19446247-G-A p.Ter141Ter splice_region ACER2 1 83306 1.20039E-5 41653 0 NA
9-19446272-C-G c.504-7C>G splice_region ACER2 1 83352 1.19973E-5 41676 0 NA
9-19446272-C-T c.504-7C>T splice_region ACER2 4 83352 4.79893E-5 41676 0 1.23267E-4
9-19446273-G-A c.504-6G>A splice_region ACER2 2 83354 2.3994E-5 41677 0 8.23642E-6
9-19446289-A-G p.Met172Val missense ACER2 10 83374 1.19941E-4 41687 0 4.11821E-5
9-19446292-C-T p.Arg173Cys missense ACER2 1 83370 1.19947E-5 41685 0 5.03525E-4
9-19446293-G-A p.Arg173His missense ACER2 1 83376 1.19939E-5 41688 0 3.29457E-5
9-19446305-T-C p.Leu177Pro missense ACER2 1 83378 1.19936E-5 41689 0 3.18817E-5
9-19446310-C-T p.Leu179Phe missense ACER2 1 83384 1.19927E-5 41692 0 7.1578E-5
9-19446317-C-T p.Ser181Leu missense ACER2 1 83382 1.1993E-5 41691 0 2.47101E-5
9-19446317-CG-C p.Gly182fs frameshift ACER2 2 83382 2.3986E-5 41691 0 NA
9-19446318-G-A p.Ser181Ser synonymous ACER2 20 83380 2.39866E-4 41690 0 2.86843E-4
9-19446356-G-A p.Ser194Asn missense ACER2 2 83374 2.39883E-5 41687 0 NA
9-19446361-C-T p.Arg196* stop_gained ACER2 2 83378 2.39871E-5 41689 0 3.18654E-5
9-19446362-G-A p.Arg196Gln missense ACER2 2 83378 2.39871E-5 41689 0 6.37308E-5
9-19446365-C-T p.Ala197Val missense ACER2 3 83382 3.5979E-5 41691 0 3.18593E-5
9-19446372-C-T p.Cys199Cys synonymous ACER2 1 83372 1.19944E-5 41686 0 0.00100705
9-19446373-G-A p.Glu200Lys missense ACER2 5 83378 5.99679E-5 41689 0 5.96469E-5
9-19446374-A-G p.Glu200Gly missense ACER2 1 83378 1.19936E-5 41689 0 NA
9-19446390-C-G p.Phe205Leu missense ACER2 1 83362 1.19959E-5 41681 0 8.23723E-6
9-19446391-A-T p.Asn206Tyr missense ACER2 1 83358 1.19964E-5 41679 0 3.97633E-6
9-19446423-C-G c.641+7C>G splice_region ACER2 1 83334 1.19999E-5 41667 0 1.59141E-5
9-19450460-CTGCCTTGCTGCCTACCTGGGCTG-C p.Leu220fs frameshift ACER2 1 83158 1.20253E-5 41579 0 8.33083E-6
9-19450464-C-G p.Leu220Val missense ACER2 2 83180 2.40442E-5 41590 0 3.18512E-5
9-19450470-G-T p.Ala222Ser missense ACER2 1 83172 1.20233E-5 41586 0 9.55414E-5
9-19450477-T-TG p.Cys226fs frameshift ACER2 2 83208 2.40361E-5 41604 0 8.2661E-6
9-19450481-C-T p.Gly225Gly synonymous ACER2 7 83248 8.40861E-5 41624 0 1.19381E-5
9-19450485-G-A p.Val227Ile missense ACER2 1 83280 1.20077E-5 41640 0 3.97747E-6
9-19450499-C-T p.Tyr231Tyr synonymous ACER2 1 83318 1.20022E-5 41659 0 3.97678E-6
9-19450513-C-T p.Ser236Leu missense ACER2 2 83314 2.40056E-5 41657 0 3.97678E-6
9-19450523-T-A p.Pro239Pro synonymous ACER2 2 83322 2.40033E-5 41661 0 NA
9-19450524-G-A p.Glu240Lys missense ACER2 4 83322 4.80065E-5 41661 0 3.1837E-5
9-19450527-C-G p.Gln241Glu missense ACER2 3 83322 3.60049E-5 41661 0 8.24103E-6
9-19450543-A-G p.Lys246Arg missense ACER2 2 83326 2.40021E-5 41663 0 NA
9-19450543-A-T p.Lys246Met missense ACER2 1 83326 1.20011E-5 41663 0 8.24185E-6
9-19450545-T-G p.Phe247Val missense ACER2 1 83316 1.20025E-5 41658 0 3.97674E-6
9-19450546-T-C p.Phe247Ser missense ACER2 2 83314 2.40056E-5 41657 0 8.24253E-6
9-19450551-C-T p.Pro249Ser missense ACER2 1 83330 1.20005E-5 41665 0 1.19304E-5
9-19450555-A-G p.Asn250Ser missense ACER2 16 83304 1.92068E-4 41652 0 0.00251762
9-19450559-G-C p.Glu251Asp missense ACER2 1 83296 1.20054E-5 41648 0 3.18492E-5
9-19450562-A-G p.Lys252Lys synonymous ACER2 1 83316 1.20025E-5 41658 0 8.24661E-6
9-19450578-G-A p.Val258Ile missense ACER2 1 83280 1.20077E-5 41640 0 7.95602E-6
9-19450582-C-T p.Pro259Leu missense ACER2 1 83284 1.20071E-5 41642 0 8.26392E-6
9-19450586-T-C p.Tyr260Tyr synonymous ACER2 1 83294 1.20057E-5 41647 0 NA
9-19450592-C-T p.Ser262Ser synonymous ACER2 1 83210 1.20178E-5 41605 0 NA
9-19450598-G-C p.Leu264Leu synonymous ACER2 2583 83068 0.031095 41534 215 0.0643485
9-19450606-A-C p.Asn267Thr missense ACER2 269 83064 0.00323847 41532 6 0.00621257
9-19450607-C-G p.Asn267Lys missense ACER2 3 83058 3.61193E-5 41529 0 1.19735E-5
9-19450631-G-A p.Thr275Thr synonymous ACER2 1 82402 1.21356E-5 41201 0 3.18431E-5
9-19450631-G-T p.Thr275Thr synonymous ACER2 1 82402 1.21356E-5 41201 0 3.18431E-5