Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
14-78140161-G-A p.Asp388Asp synonymous ALKBH1 1 83408 1.19893E-5 41704 0 NA
14-78140170-T-C p.Ile385Met missense ALKBH1 1 83408 1.19893E-5 41704 0 3.18471E-5
14-78140181-G-A p.Arg382Trp missense ALKBH1 1 83418 1.19878E-5 41709 0 3.31214E-5
14-78140190-C-T p.Glu379Lys missense ALKBH1 31 83412 3.71649E-4 41706 0 5.04032E-4
14-78140191-G-A p.Ser378Ser synonymous ALKBH1 2 83412 2.39774E-5 41706 0 1.07399E-4
14-78140197-C-G p.Gln376His missense ALKBH1 1 83414 1.19884E-5 41707 0 NA
14-78140200-G-A p.Asp375Asp synonymous ALKBH1 1 83410 1.1989E-5 41705 0 9.55231E-5
14-78140208-G-A p.Leu373Leu synonymous ALKBH1 2 83408 2.39785E-5 41704 0 NA
14-78140212-G-T p.Cys371* stop_gained ALKBH1 15 83400 1.79856E-4 41700 0 0.00201613
14-78140234-T-A p.Asp364Val missense ALKBH1 1 83400 1.19904E-5 41700 0 NA
14-78140237-C-CT p.Arg363fs frameshift ALKBH1 1 83398 1.19907E-5 41699 0 NA
14-78140250-C-T p.Glu359Lys missense ALKBH1 4 83388 4.79685E-5 41694 0 6.40985E-5
14-78140256-G-A p.Pro357Ser missense ALKBH1 235 83374 0.00281862 41687 3 0.00477768
14-78140272-CTGGTCTG-C p.Thr349fs frameshift ALKBH1 1 83354 1.1997E-5 41677 0 3.97662E-6
14-78140279-G-C p.Thr349Arg missense ALKBH1 4 83340 4.79962E-5 41670 0 6.36902E-5
14-78140284-CAGG-C p.Leu347del disruptive_inframe_deletion ALKBH1 1 83336 1.19996E-5 41668 0 3.97671E-6
14-78140284-C-T p.Leu347Leu synonymous ALKBH1 1 83336 1.19996E-5 41668 0 3.97671E-6
14-78140292-G-A p.Gln345* stop_gained ALKBH1 1 83318 1.20022E-5 41659 0 NA
14-78140295-G-A p.Arg344* stop_gained ALKBH1 3 83320 3.60058E-5 41660 0 2.23001E-4
14-78140295-G-T p.Arg344Arg synonymous ALKBH1 1 83320 1.20019E-5 41660 0 1.59074E-5
14-78140295-G-C p.Arg344Gly missense ALKBH1 1 83320 1.20019E-5 41660 0 NA
14-78140313-G-A p.Arg338Cys missense ALKBH1 1 83262 1.20103E-5 41631 0 2.47109E-5
14-78140316-C-T p.Ala337Thr missense ALKBH1 2 83248 2.40246E-5 41624 0 6.25E-4
14-78140317-G-T p.Thr336Thr synonymous ALKBH1 1 83256 1.20111E-5 41628 0 2.47105E-5
14-78140318-G-T p.Thr336Asn missense ALKBH1 1 83242 1.20132E-5 41621 0 NA
14-78140329-G-A p.Ser332Ser synonymous ALKBH1 13014 83062 0.156678 41531 1097 0.184375
14-78140344-C-A p.Trp327Cys missense ALKBH1 1 83254 1.20114E-5 41627 0 4.77221E-5
14-78140354-A-G p.Met324Thr missense ALKBH1 1 83252 1.20117E-5 41626 0 8.23696E-6
14-78140355-T-A p.Met324Leu missense ALKBH1 16370 83066 0.197072 41533 1755 0.2125
14-78140355-T-C p.Met324Val missense ALKBH1 2 83256 2.40223E-5 41628 0 2.47158E-5
14-78140363-G-A p.Pro321Leu missense ALKBH1 1 83252 1.20117E-5 41626 0 NA
14-78140373-T-C p.Met318Val missense ALKBH1 2 83266 2.40194E-5 41633 0 1.64745E-5
14-78140374-T-C p.Ser317Ser synonymous ALKBH1 1 83264 1.201E-5 41632 0 NA
14-78140379-C-T p.Asp316Asn missense ALKBH1 37 83260 4.44391E-4 41630 0 0.00100705
14-78140384-G-T p.Pro314Gln missense ALKBH1 1 83268 1.20094E-5 41634 0 1.19324E-5
14-78140384-G-A p.Pro314Leu missense ALKBH1 3 83268 3.60282E-5 41634 0 0.001875
14-78140386-G-A p.Leu313Leu synonymous ALKBH1 1 83260 1.20106E-5 41630 0 NA
14-78140398-G-A p.Leu309Leu synonymous ALKBH1 2 83250 2.4024E-5 41625 0 3.18431E-5
14-78140406-C-T p.Ala307Thr missense ALKBH1 4 83224 4.80631E-5 41612 0 4.11896E-5
14-78140414-C-A p.Cys304Phe missense ALKBH1 1 83248 1.20123E-5 41624 0 3.18735E-5
14-78140415-A-C p.Cys304Gly missense ALKBH1 2 83252 2.40234E-5 41626 0 3.18634E-5
14-78140424-G-T p.Leu301Met missense ALKBH1 1 83248 1.20123E-5 41624 0 NA
14-78140436-C-T p.Glu297Lys missense ALKBH1 2 83264 2.402E-5 41632 0 6.3743E-5
14-78140451-C-T p.Val292Ile missense ALKBH1 1 83290 1.20062E-5 41645 0 NA
14-78140464-G-A p.His287His synonymous ALKBH1 26 83286 3.12177E-4 41643 1 7.32624E-4
14-78140474-A-G p.Leu284Pro missense ALKBH1 1 83300 1.20048E-5 41650 0 6.37227E-5
14-78140476-G-T p.Arg283Arg synonymous ALKBH1 1 83280 1.20077E-5 41640 0 8.25246E-6
14-78140477-C-T p.Arg283His missense ALKBH1 5 83272 6.00442E-5 41636 0 6.37227E-5
14-78140478-G-A p.Arg283Cys missense ALKBH1 3 83276 3.60248E-5 41638 0 3.18532E-5
14-78140488-C-T p.Ser279Ser synonymous ALKBH1 2 83292 2.40119E-5 41646 0 2.27119E-4
14-78140522-A-G p.Met268Thr missense ALKBH1 1 83286 1.20068E-5 41643 0 NA
14-78140523-T-C p.Met268Val missense ALKBH1 1 83270 1.20091E-5 41635 0 NA
14-78140527-C-T p.Thr266Thr synonymous ALKBH1 14 83270 1.68128E-4 41635 0 5.03525E-4
14-78140528-G-A p.Thr266Met missense ALKBH1 5 83262 6.00514E-5 41631 0 9.55414E-5
14-78140529-T-TG p.Thr266fs frameshift ALKBH1 1 83254 1.20114E-5 41627 0 NA
14-78140549-A-C p.Leu259Arg missense ALKBH1 2 83296 2.40108E-5 41648 0 NA
14-78140563-A-G p.Phe254Phe synonymous ALKBH1 98 83256 0.00117709 41628 1 0.00292919
14-78140565-A-G p.Phe254Leu missense ALKBH1 21 83256 2.52234E-4 41628 0 0.00100705
14-78140571-C-T p.Ala252Thr missense ALKBH1 24 83232 2.88351E-4 41616 0 6.37146E-4
14-78140571-C-A p.Ala252Ser missense ALKBH1 1 83232 1.20146E-5 41616 0 4.2101E-6
14-78140572-G-A p.Ser251Ser synonymous ALKBH1 12 83238 1.44165E-4 41619 0 0.00100705
14-78140584-G-A p.Ser247Ser splice_region+synonymous ALKBH1 1 83164 1.20244E-5 41582 0 NA
14-78140586-T-TGAATGACAGCAAGGGTTTGGAGTGATCTAGCTCAGATCTGTCTACGTGG c.741-3_741-2insCCACGTAGACAGATCTGAGCTAGATCACTCCAAACCCTTGCTGTCATTC splice_region ALKBH1 1 83126 1.20299E-5 41563 0 NA
14-78140586-T-TGAATGACAGCAAGGGTTTGGAGTGATCTAGCTCAGATCTGTCTACGTGGATTCCC c.741-3_741-2insGGGAATCCACGTAGACAGATCTGAGCTAGATCACTCCAAACCCTTGCTGTCATTC splice_region ALKBH1 2 83126 2.40599E-5 41563 1 NA
14-78140589-A-C c.741-5T>G splice_region ALKBH1 1 83078 1.20369E-5 41539 0 NA
14-78140591-A-G c.741-7T>C splice_region ALKBH1 1 83052 1.20406E-5 41526 0 NA
14-78142004-T-C p.Ser245Ser synonymous ALKBH1 1 83102 1.20334E-5 41551 0 NA
14-78142009-G-A p.Leu244Leu synonymous ALKBH1 2 83268 2.40188E-5 41634 0 9.56145E-5
14-78142023-T-C p.His239Arg missense ALKBH1 1 83364 1.19956E-5 41682 0 NA
14-78142034-A-T p.Ser235Ser synonymous ALKBH1 2 83372 2.39889E-5 41686 0 3.977E-5
14-78142035-G-C p.Ser235Cys missense ALKBH1 1 83372 1.19944E-5 41686 0 NA
14-78142038-C-T p.Arg234Lys missense ALKBH1 2 83372 2.39889E-5 41686 0 NA
14-78142045-C-T p.Val232Ile missense ALKBH1 1 83368 1.1995E-5 41684 0 1.98828E-5
14-78142065-T-G p.Asp225Ala missense ALKBH1 3 83386 3.59773E-5 41693 0 NA
14-78142068-A-G p.Leu224Pro missense ALKBH1 4 83394 4.79651E-5 41697 0 3.18695E-5
14-78142071-C-A p.Arg223Leu missense ALKBH1 1 83386 1.19924E-5 41693 0 NA
14-78142071-C-T p.Arg223His missense ALKBH1 5 83386 5.99621E-5 41693 0 1.48258E-4
14-78142072-G-A p.Arg223Cys missense ALKBH1 2 83388 2.39843E-5 41694 0 3.18918E-5
14-78142072-GGTA-G p.Tyr222del conservative_inframe_deletion ALKBH1 1 83388 1.19921E-5 41694 0 NA
14-78142073-G-C p.Tyr222* stop_gained ALKBH1 1 83388 1.19921E-5 41694 0 NA
14-78142074-T-C p.Tyr222Cys missense ALKBH1 2 83390 2.39837E-5 41695 0 3.18715E-5
14-78142099-C-T p.Ala214Thr missense ALKBH1 1 83400 1.19904E-5 41700 0 3.18735E-5
14-78142101-C-T p.Arg213Gln missense ALKBH1 7 83400 8.39329E-5 41700 0 0.0020141
14-78142102-G-C p.Arg213Gly missense ALKBH1 1 83398 1.19907E-5 41699 0 8.2371E-6
14-78142115-TC-T p.Gly208fs frameshift ALKBH1 1 83396 1.1991E-5 41698 0 3.97636E-6
14-78142123-C-T p.Ala206Thr missense ALKBH1 2 83392 2.39831E-5 41696 0 NA
14-78142126-C-T p.Ala205Thr missense ALKBH1 1 83386 1.19924E-5 41693 0 3.1902E-5
14-78142130-T-C p.Val203Val synonymous ALKBH1 1 83378 1.19936E-5 41689 0 NA
14-78142135-G-A p.Gln202* stop_gained ALKBH1 2 83388 2.39843E-5 41694 0 NA
14-78142137-T-C p.Glu201Gly missense ALKBH1 1 83388 1.19921E-5 41694 0 3.18613E-5
14-78142154-G-T p.Asp195Glu missense ALKBH1 3 83360 3.59885E-5 41680 0 1.98831E-5
14-78142154-G-A p.Asp195Asp synonymous ALKBH1 11 83360 1.31958E-4 41680 0 5.1075E-4
14-78142177-G-C p.His188Asp missense ALKBH1 4 83316 4.801E-5 41658 0 NA
14-78142185-G-A p.Ser185Leu missense ALKBH1 2 83276 2.40165E-5 41638 0 1.19389E-5
14-78146215-C-T c.546+8G>A splice_region ALKBH1 8 82956 9.64367E-5 41478 0 1.59337E-4
14-78146216-T-A c.546+7A>T splice_region ALKBH1 1 82964 1.20534E-5 41482 0 NA
14-78146223-C-T p.Lys182Lys splice_region+synonymous ALKBH1 1 83050 1.20409E-5 41525 0 3.98222E-6
14-78146226-A-C p.Ser181Arg missense ALKBH1 1 83084 1.2036E-5 41542 0 NA
14-78146243-G-A p.His176Tyr missense ALKBH1 1 83220 1.20163E-5 41610 0 3.18492E-5
14-78146252-C-T p.Val173Ile missense ALKBH1 32 83214 3.84551E-4 41607 0 9.23861E-4
14-78146253-G-A p.Thr172Thr synonymous ALKBH1 4 83224 4.80631E-5 41612 0 6.37105E-5
14-78146259-C-T p.Trp170* stop_gained ALKBH1 2 83254 2.40229E-5 41627 0 7.95526E-6
14-78146263-C-T p.Arg169His missense ALKBH1 2 83252 2.40234E-5 41626 0 3.30071E-5
14-78146272-T-C p.Glu166Gly missense ALKBH1 2 83280 2.40154E-5 41640 0 3.97728E-6
14-78146284-C-T p.Arg162Gln missense ALKBH1 3 83280 3.60231E-5 41640 0 3.18451E-5
14-78146293-C-T p.Arg159Gln missense ALKBH1 4 83276 4.8033E-5 41638 0 5.28009E-4
14-78146299-G-A p.Thr157Ile missense ALKBH1 14 83276 1.68116E-4 41638 0 5.96611E-5
14-78146301-C-T p.Arg98Gln missense ALKBH1 3 83262 3.60308E-5 41631 0 6.36983E-5
14-78146305-T-C p.Glu155Gly missense ALKBH1 1 83252 1.20117E-5 41626 0 NA
14-78146311-T-TA p.Tyr153fs frameshift ALKBH1 1 83230 1.20149E-5 41615 0 3.1841E-5
14-78161076-C-T c.455+5G>A splice_region ALKBH1 1 82464 1.21265E-5 41232 0 NA
14-78161081-C-T p.Arg152Lys missense+splice_region ALKBH1 2 82574 2.42207E-5 41287 0 1.73121E-5
14-78161085-G-C p.Leu151Val missense ALKBH1 2 82576 2.42201E-5 41288 0 8.60971E-6
14-78161086-G-T p.Phe150Leu missense ALKBH1 16 82582 1.93747E-4 41291 0 1.01439E-4
14-78161088-A-G p.Phe150Leu missense ALKBH1 1 82610 1.21051E-5 41305 0 NA
14-78161091-C-T p.Glu149Lys missense ALKBH1 3 82812 3.62266E-5 41406 0 6.37105E-5
14-78161095-G-A p.Ser147Ser synonymous ALKBH1 1 82902 1.20624E-5 41451 0 NA
14-78161100-G-A p.Gln146* stop_gained ALKBH1 1 83004 1.20476E-5 41502 0 4.14976E-6
14-78161131-C-T p.Met135Ile missense ALKBH1 1531 83136 0.0184156 41568 23 0.0156718
14-78161142-C-G p.Asp132His missense ALKBH1 1 83216 1.20169E-5 41608 0 NA
14-78161152-T-C p.Val128Val synonymous ALKBH1 1 83244 1.20129E-5 41622 0 NA
14-78161154-C-T p.Val128Ile missense ALKBH1 1 83222 1.20161E-5 41611 0 NA
14-78161160-G-A p.Pro126Ser missense ALKBH1 1 83224 1.20158E-5 41612 0 8.25641E-6
14-78161164-C-G p.Gln124His missense ALKBH1 1 83234 1.20143E-5 41617 0 NA
14-78161167-G-C p.Ser123Ser synonymous ALKBH1 1 83228 1.20152E-5 41614 0 NA
14-78161201-CA-C p.Trp112fs frameshift ALKBH1 2 82730 2.4175E-5 41365 0 NA
14-78161202-A-G p.Trp112Arg missense ALKBH1 2 82760 2.41663E-5 41380 0 3.18573E-5
14-78161203-C-T p.Gln111Gln synonymous ALKBH1 1 82756 1.20837E-5 41378 0 1.67546E-5
14-78161217-G-C p.Leu107Val missense ALKBH1 2 82498 2.4243E-5 41249 0 NA
14-78161218-G-A p.Phe106Phe synonymous ALKBH1 2 82494 2.42442E-5 41247 0 5.12812E-5
14-78161231-A-G p.Ile102Thr missense ALKBH1 1 82260 1.21566E-5 41130 0 NA
14-78161237-A-C p.Ile100Ser missense ALKBH1 2 82180 2.43368E-5 41090 0 5.11237E-6
14-78161244-C-CAGGATAGCCTTTGAGTCCA c.293-2_293-1insTGGACTCAAAGGCTATCCT splice_acceptor ALKBH1 1 81798 1.22252E-5 40899 0 NA
14-78170717-T-C p.Tyr96Cys missense ALKBH1 2 83358 2.39929E-5 41679 0 NA
14-78170732-T-C p.Tyr91Cys missense ALKBH1 4 83374 4.79766E-5 41687 0 6.36699E-5
14-78170746-G-C p.Ser86Arg missense ALKBH1 2 83386 2.39848E-5 41693 0 8.23723E-6
14-78170748-T-C p.Ser86Gly missense ALKBH1 25 83384 2.99818E-4 41692 0 1.78951E-4
14-78170751-C-T p.Val85Ile missense ALKBH1 1 83380 1.19933E-5 41690 0 3.1841E-5
14-78170752-G-C p.Pro84Pro synonymous ALKBH1 1 83382 1.1993E-5 41691 0 0.00125
14-78170755-C-T p.Gln83Gln synonymous ALKBH1 2 83390 2.39837E-5 41695 0 6.36862E-5
14-78170761-A-C p.Gly81Gly synonymous ALKBH1 1 83390 1.19918E-5 41695 0 NA
14-78170764-T-C p.Ala80Ala synonymous ALKBH1 1 83384 1.19927E-5 41692 0 NA
14-78170770-A-G p.Tyr78Tyr synonymous ALKBH1 1 83380 1.19933E-5 41690 0 2.38593E-5
14-78170776-A-T p.Asn76Lys missense ALKBH1 1 83386 1.19924E-5 41693 0 NA
14-78170785-A-G p.Ser73Ser synonymous ALKBH1 1 83386 1.19924E-5 41693 0 NA
14-78170794-A-G p.Ser70Ser synonymous ALKBH1 2 83378 2.39871E-5 41689 0 3.18431E-5
14-78170800-AT-A p.Asn68fs frameshift ALKBH1 1 83366 1.19953E-5 41683 0 1.19307E-5
14-78170801-T-G p.Asn68Thr missense ALKBH1 2 83362 2.39917E-5 41681 0 2.38626E-5
14-78170808-G-A p.Gln66* stop_gained ALKBH1 12 83348 1.43975E-4 41674 0 1.27372E-4
14-78170820-C-T p.Val62Met missense+splice_region ALKBH1 4 83324 4.80054E-5 41662 0 1.23577E-4
14-78170822-T-TTTTGGGCACCAGGACCCTTGCCACGGGCTGCGTG c.184-3_184-2insCACGCAGCCCGTGGCAAGGGTCCTGGTGCCCAAA splice_region ALKBH1 2 83324 2.40027E-5 41662 1 NA
14-78174161-G-C c.183+4C>G splice_region ALKBH1 12 82848 1.44844E-4 41424 0 2.86935E-4
14-78174165-C-G p.Lys61Asn missense+splice_region ALKBH1 2 82910 2.41225E-5 41455 0 NA
14-78174176-C-T p.Gly58Ser missense ALKBH1 1 82922 1.20595E-5 41461 0 4.87132E-5
14-78174179-G-A p.Pro57Ser missense ALKBH1 1 82900 1.20627E-5 41450 0 1.73452E-5
14-78174190-C-T p.Arg53His missense ALKBH1 13 82826 1.56956E-4 41413 0 1.04929E-4
14-78174191-G-A p.Arg53Cys missense ALKBH1 3 82852 3.62091E-5 41426 0 6.37308E-5
14-78174205-G-A p.Ala48Val missense ALKBH1 2 82830 2.41458E-5 41415 0 2.54924E-5
14-78174213-GT-G p.Asp45fs frameshift ALKBH1 6 82904 7.23729E-5 41452 0 6.37105E-5
14-78174216-G-C p.Ile44Met missense ALKBH1 1 82908 1.20616E-5 41454 0 8.46683E-6
14-78174218-T-C p.Ile44Val missense ALKBH1 1 82916 1.20604E-5 41458 0 4.00946E-6
14-78174219-G-GGGGTCA p.Val43_Ile44insAspPro disruptive_inframe_insertion ALKBH1 1 82896 1.20633E-5 41448 0 NA
14-78174220-ACC-A p.Val43fs frameshift ALKBH1 1 82840 1.20715E-5 41420 0 NA
14-78174224-C-T p.Gly42Arg missense ALKBH1 1 82870 1.20671E-5 41435 0 NA
14-78174225-T-G p.Glu41Asp missense ALKBH1 1 82848 1.20703E-5 41424 0 8.4631E-6
14-78174230-G-A p.Leu40Leu synonymous ALKBH1 1 82796 1.20779E-5 41398 0 4.00856E-6
14-78174241-C-T p.Gly36Glu missense ALKBH1 1 82652 1.20989E-5 41326 0 6.81559E-5
14-78174243-G-C p.Pro35Pro synonymous ALKBH1 2 82626 2.42055E-5 41313 0 NA
14-78174247-C-T p.Arg34Gln missense ALKBH1 3 82584 3.63266E-5 41292 0 NA
14-78174249-G-A p.Ser33Ser synonymous ALKBH1 4 82526 4.84696E-5 41263 0 2.54095E-5
14-78174252-C-T p.Gln32Gln synonymous ALKBH1 1 82562 1.21121E-5 41281 0 8.46955E-6
14-78174264-G-GCGGA p.Phe29fs frameshift ALKBH1 1 82364 1.21412E-5 41182 0 NA
14-78174266-G-A p.Arg28Cys missense ALKBH1 3 82332 3.64378E-5 41166 0 4.01197E-6
14-78174290-C-T p.Glu20Lys missense ALKBH1 1 82046 1.21883E-5 41023 0 NA
14-78174293-C-G p.Gly19Arg missense ALKBH1 2 82040 2.43784E-5 41020 0 3.18532E-5
14-78174293-C-T p.Gly19Arg missense ALKBH1 6 82040 7.31351E-5 41020 0 2.21421E-4
14-78174294-G-T p.Pro18Pro synonymous ALKBH1 1 81990 1.21966E-5 40995 0 2.41536E-5
14-78174298-T-C p.Glu17Gly missense ALKBH1 3 81978 3.65952E-5 40989 0 4.02476E-6
14-78174305-C-T p.Ala15Thr missense ALKBH1 1 81976 1.21987E-5 40988 0 5.03525E-4
14-78174319-G-A p.Ser10Phe missense ALKBH1 1 81962 1.22008E-5 40981 0 NA
14-78174321-G-C p.Gly9Gly synonymous ALKBH1 1 81942 1.22038E-5 40971 0 NA
14-78174322-C-G p.Gly9Ala missense ALKBH1 1 81946 1.22032E-5 40973 0 NA
14-78174326-CG-TA p.AlaVal7AlaMet missense ALKBH1 1 81946 1.22032E-5 40973 0 NA
14-78174327-G-A p.Ala7Ala synonymous ALKBH1 1 81904 1.22094E-5 40952 0 6.25782E-4
14-78174336-C-T p.Met4Ile missense ALKBH1 1 81976 1.21987E-5 40988 0 NA
14-78174338-T-C p.Met4Val missense ALKBH1 2 81970 2.43992E-5 40985 0 8.53854E-6
14-78174345-C-A p.Met1? start_lost ALKBH1 2 82026 2.43825E-5 41013 0 NA