Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
19-36500023-A-T c.*651T>A splice_region ALKBH6 5 41664 1.20008E-4 20832 0 2.22916E-4
19-36500026-G-T c.*166C>A splice_region ALKBH6 1 42388 2.35916E-5 21194 0 NA
19-36500027-A-AT c.*164dupA splice_region ALKBH6 1 42660 2.34412E-5 21330 0 NA
19-36500078-G-A c.*391C>T splice_region ALKBH6 1 54954 1.8197E-5 27477 0 NA
19-36500178-CCCGGCCCTGGCGGTCACTTGCCCAGCAGGAGG-C p.Gly233fs frameshift ALKBH6 1 61144 1.63548E-5 30572 0 NA
19-36500196-T-C p.Lys238Arg missense ALKBH6 1 59610 1.67757E-5 29805 0 NA
19-36500205-A-G p.Leu235Pro missense ALKBH6 1 58616 1.70602E-5 29308 0 NA
19-36500239-G-T p.Arg224Ser missense ALKBH6 1 51788 1.93095E-5 25894 0 NA
19-36500243-G-A p.Thr222Thr synonymous ALKBH6 13 51314 2.53342E-4 25657 0 2.55984E-4
19-36500255-C-G p.Arg218Arg synonymous ALKBH6 1 49304 2.02823E-5 24652 0 NA
19-36500284-G-A p.Pro209Ser missense ALKBH6 5 44820 1.11557E-4 22410 0 3.19918E-5
19-36500295-G-T p.Pro205Gln missense ALKBH6 2 43614 4.58568E-5 21807 0 NA
19-36500306-C-T p.Ala201Ala synonymous ALKBH6 1 42442 2.35616E-5 21221 0 5.83431E-4
19-36500309-A-T p.Asn200Lys missense ALKBH6 1 42572 2.34896E-5 21286 0 NA
19-36500310-T-G p.Asn200Thr missense ALKBH6 3 42604 7.04159E-5 21302 0 1.59969E-4
19-36500315-C-A p.Pro198Pro synonymous ALKBH6 1 42278 2.3653E-5 21139 0 NA
19-36500319-G-A p.Ser197Leu missense ALKBH6 1 42372 2.36005E-5 21186 0 3.19714E-5
19-36500321-G-A p.Ser196Ser synonymous ALKBH6 1 42236 2.36765E-5 21118 0 NA
19-36500329-C-T p.Ala194Thr missense ALKBH6 3 41356 7.25409E-5 20678 0 1.59928E-4
19-36500330-G-A p.Asp193Asp synonymous ALKBH6 2 41416 4.82905E-5 20708 0 NA
19-36500336-C-T p.Ala191Ala synonymous ALKBH6 1 41228 2.42554E-5 20614 0 0.00269978
19-36500343-ACGCGGGCGGCGGCGATGC-A p.Gly183_Arg188del disruptive_inframe_deletion ALKBH6 1 41216 2.42624E-5 20608 0 NA
19-36500347-G-T p.Arg188Ser missense ALKBH6 2 40936 4.88568E-5 20468 0 NA
19-36500350-C-T p.Ala187Thr missense ALKBH6 2 40576 4.92902E-5 20288 1 NA
19-36500362-C-A p.Gly183Cys missense ALKBH6 1 40060 2.49626E-5 20030 0 0.00209205
19-36500363-G-A n.700C>T splice_region ALKBH6 1 40132 2.49178E-5 20066 0 NA
19-36500366-G-A p.Leu181Leu synonymous ALKBH6 1 40156 2.49029E-5 20078 0 NA
19-36500388-C-T p.Gly174Asp missense ALKBH6 2 38270 5.22603E-5 19135 0 NA
19-36500389-C-G p.Gly174Arg missense ALKBH6 1 38056 2.62771E-5 19028 0 NA
19-36500399-C-T p.Leu170Leu synonymous ALKBH6 1 37352 2.67723E-5 18676 0 NA
19-36500410-G-A p.Arg167Cys missense ALKBH6 2 35982 5.55833E-5 17991 0 2.24618E-4
19-36500422-G-A p.Leu163Leu synonymous ALKBH6 1 34900 2.86533E-5 17450 0 NA
19-36500428-A-AGGT p.Thr160dup conservative_inframe_insertion ALKBH6 1 34132 2.9298E-5 17066 0 NA
19-36500439-C-G p.Arg157Pro missense ALKBH6 2 33128 6.03719E-5 16564 0 NA
19-36500449-G-A p.Pro154Ser missense ALKBH6 2 32414 6.17017E-5 16207 0 2.57798E-4
19-36500458-G-GTTCTGTAGGGTCATCGTCCTCTGGCCGCCGCGGCTCGTAGAAGTC c.454-4_454-3insGACTTCTACGAGCCGCGGCGGCCAGAGGACGATGACCCTACAGAA splice_region ALKBH6 4 31800 1.25786E-4 15900 2 NA
19-36500458-G-GTT c.454-4_454-3insAA splice_region ALKBH6 1 31800 3.14465E-5 15900 0 NA
19-36501192-T-G n.1004A>C splice_region ALKBH6 1 9122 1.09625E-4 4561 0 NA
19-36501476-G-T p.Thr149Lys missense ALKBH6 221 82788 0.00266947 41394 3 0.00548644
19-36501477-T-C p.Thr149Ala missense ALKBH6 1 82806 1.20764E-5 41403 0 8.31712E-6
19-36501478-A-G p.Pro148Pro synonymous ALKBH6 3 82816 3.62249E-5 41408 0 2.40937E-5
19-36501480-G-C p.Pro148Ala missense ALKBH6 338 82820 0.00408114 41410 4 0.00903057
19-36501482-T-A p.Ter134Cysext*? stop_lost ALKBH6 25 82814 3.01881E-4 41407 0 0.00101386
19-36501482-T-C p.Ter134Trpext*? stop_lost ALKBH6 1 82816 1.2075E-5 41408 0 3.19264E-5
19-36501486-C-T p.Asp146Asn missense ALKBH6 2 82812 2.41511E-5 41406 0 1.60557E-5
19-36501498-G-A p.Arg142Trp missense ALKBH6 3 82838 3.62153E-5 41419 0 5.03525E-4
19-36501500-C-T p.Arg141Gln missense ALKBH6 1 82828 1.20732E-5 41414 0 3.19163E-5
19-36501502-C-T p.Ala128Thr missense ALKBH6 4 82822 4.82963E-5 41411 0 2.48847E-5
19-36501503-G-A p.Pro140Leu missense ALKBH6 1 82780 1.20802E-5 41390 0 3.19203E-5
19-36501504-G-C p.Pro140Ala missense ALKBH6 1 82798 1.20776E-5 41399 0 4.012E-6
19-36501509-T-C p.Tyr138Cys missense ALKBH6 29 82772 3.5036E-4 41386 0 9.89088E-4
19-36501512-A-C p.Phe137Cys missense ALKBH6 1 82778 1.20805E-5 41389 0 NA
19-36501516-C-T p.Asp136Asn missense ALKBH6 1 82742 1.20858E-5 41371 0 NA
19-36501544-G-T p.His114Asn missense ALKBH6 1 82640 1.21007E-5 41320 0 NA
19-36501553-A-G n.529-6T>C splice_region ALKBH6 1 82546 1.21145E-5 41273 0 NA
19-36501556-C-T p.Pro122Pro synonymous ALKBH6 3 82500 3.63636E-5 41250 0 NA
19-36501557-G-A p.Pro122Leu missense ALKBH6 2 82508 2.42401E-5 41254 0 1.66304E-5
19-36501568-T-C p.Pro118Pro synonymous ALKBH6 3 82384 3.64148E-5 41192 0 4.16708E-5
19-36501574-G-A p.Asp116Asp synonymous ALKBH6 3 82256 3.64715E-5 41128 0 2.01033E-5
19-36501579-C-T p.Glu115Lys missense ALKBH6 8 82218 9.73023E-5 41109 0 1.59571E-4
19-36501580-G-A p.His114His synonymous ALKBH6 1 82226 1.21616E-5 41113 0 3.19E-5
19-36501590-G-A c.337-5C>T splice_region ALKBH6 6 82204 7.29891E-5 41102 0 1.77292E-4
19-36501591-G-T c.337-6C>A splice_region ALKBH6 2 82198 2.43315E-5 41099 0 3.35554E-5
19-36501788-G-T c.336+8C>A splice_region ALKBH6 993 82942 0.0119722 41471 23 0.0175192
19-36501793-T-C c.336+3A>G splice_region ALKBH6 1 82982 1.20508E-5 41491 0 NA
19-36501814-C-G p.Leu106Leu synonymous ALKBH6 2 83012 2.40929E-5 41506 0 NA
19-36501824-T-C p.Asn103Ser missense ALKBH6 1 83018 1.20456E-5 41509 0 3.97731E-6
19-36501828-C-T p.Val102Met missense ALKBH6 3 83006 3.6142E-5 41503 0 6.38774E-5
19-36501829-G-A p.Ser93Leu missense ALKBH6 31 83014 3.73431E-4 41507 0 9.57854E-4
19-36501839-T-G p.Asn98Thr missense ALKBH6 1 82976 1.20517E-5 41488 0 NA
19-36501848-A-G p.Leu95Pro missense ALKBH6 3 82918 3.61803E-5 41459 0 3.19326E-5
19-36501857-A-G p.Phe92Ser missense ALKBH6 1 82846 1.20706E-5 41423 0 1.98931E-5
19-36501876-C-T p.Val86Met missense ALKBH6 1 82642 1.21004E-5 41321 0 3.19163E-5
19-36501879-T-G p.Lys85Gln missense ALKBH6 2 82626 2.42055E-5 41313 0 1.72951E-5
19-36501885-C-T p.Val83Met missense ALKBH6 4 82478 4.84978E-5 41239 0 2.87265E-4
19-36501890-C-T p.Arg81His missense ALKBH6 1 82392 1.21371E-5 41196 0 8.0041E-6
19-36501895-G-C p.Ser71Cys missense ALKBH6 20 82380 2.42777E-4 41190 0 6.25E-4
19-36501905-G-A p.Pro76Leu missense ALKBH6 2 82476 2.42495E-5 41238 0 NA
19-36501911-C-T p.Arg74Gln missense ALKBH6 1 82472 1.21253E-5 41236 0 3.1411E-5
19-36501912-G-A p.Arg74Trp missense ALKBH6 4 82440 4.85201E-5 41220 0 1.15685E-4
19-36501917-G-C p.Pro72Arg missense ALKBH6 3 82408 3.64042E-5 41204 0 1.21467E-5
19-36501921-C-T p.Trp62* stop_gained ALKBH6 1 82352 1.2143E-5 41176 0 NA
19-36501929-C-T p.Arg68Gln missense ALKBH6 1 82232 1.21607E-5 41116 0 4.14058E-6
19-36501930-G-A p.Arg68* stop_gained ALKBH6 1 82236 1.21601E-5 41118 0 6.33441E-5
19-36501956-G-A p.Leu51Phe missense ALKBH6 1 81828 1.22208E-5 40914 0 NA
19-36501958-C-T p.Cys50Tyr missense ALKBH6 2 81766 2.446E-5 40883 0 5.74449E-5
19-36501960-A-G p.His49His synonymous ALKBH6 6 81708 7.34322E-5 40854 0 3.91604E-5
19-36501974-GC-G p.Ser84fs frameshift ALKBH6 1 80918 1.23582E-5 40459 0 2.90884E-5
19-36501979-C-G p.Gly81Ala missense+splice_region ALKBH6 3 80772 3.71416E-5 40386 0 3.19264E-5
19-36502083-G-A n.471C>T splice_region ALKBH6 160 65868 0.0024291 32934 2 5.10334E-4
19-36502301-C-T c.184+5G>A splice_region ALKBH6 2 82614 2.4209E-5 41307 0 7.98206E-6
19-36502313-C-T p.Gln59Gln synonymous ALKBH6 1 82794 1.20782E-5 41397 0 NA
19-36502340-C-G p.Trp50Cys missense ALKBH6 3 82968 3.61585E-5 41484 1 0.00151057
19-36502360-TA-T p.Phe43fs frameshift ALKBH6 2 82992 2.40987E-5 41496 0 3.98038E-6
19-36502368-T-TGTCGAAGCAAATACTCCTCCTCTTCTTTGGAGATG c.124-3_124-2insCATCTCCAAAGAAGAGGAGGAGTATTTGCTTCGAC splice_region ALKBH6 1 82962 1.20537E-5 41481 0 NA
19-36502369-A-T c.124-3T>A splice_region ALKBH6 1 82950 1.20555E-5 41475 0 NA
19-36503897-ACAGACCAGTAGGGCACTGAGGTC-A p.Thr56_Trp61del splice_donor ALKBH6 2 82792 2.41569E-5 41396 0 NA
19-36503898-C-G c.182+5G>C splice_region ALKBH6 1 82836 1.2072E-5 41418 0 3.97804E-6
19-36503915-G-T p.Ser57* stop_gained ALKBH6 2 83052 2.40813E-5 41526 0 8.23886E-6
19-36503937-ACTC-A p.Glu36del conservative_inframe_deletion ALKBH6 1 83224 1.20158E-5 41612 0 NA
19-36503937-A-C p.Tyr37Asp missense ALKBH6 1 83224 1.20158E-5 41612 0 1.59079E-5
19-36503938-C-T p.Glu36Glu synonymous ALKBH6 1 83232 1.20146E-5 41616 0 NA
19-36503952-T-C p.Lys32Glu missense ALKBH6 1 83256 1.20111E-5 41628 0 8.2375E-6
19-36503961-A-C p.Phe29Val missense ALKBH6 1 83256 1.20111E-5 41628 0 NA
19-36504208-C-T c.112+4G>A splice_region ALKBH6 17 83154 2.0444E-4 41577 0 1.79556E-4
19-36504212-C-A p.Gly38Cys missense+splice_region ALKBH6 1 83182 1.20218E-5 41591 0 NA
19-36504215-C-T p.Gly37Arg missense ALKBH6 1 83222 1.20161E-5 41611 0 NA
19-36504216-T-G p.Glu36Asp missense ALKBH6 2 83224 2.40315E-5 41612 0 8.26569E-6
19-36504219-A-AC p.Glu36fs frameshift ALKBH6 1 83234 1.20143E-5 41617 0 4.78E-5
19-36504229-C-G c.121+1G>C splice_donor ALKBH6 10 83260 1.20106E-4 41630 0 2.78662E-5
19-36504253-A-G p.Val16Ala missense ALKBH6 11 83282 1.32081E-4 41641 1 6.25E-4
19-36504256-C-A p.Arg15Ile missense ALKBH6 11 83292 1.32065E-4 41646 0 1.27624E-4
19-36504270-G-T p.Ala10Ala synonymous ALKBH6 1 83276 1.20083E-5 41638 0 7.95577E-6
19-36504281-T-C p.Arg7Gly missense ALKBH6 1 83260 1.20106E-5 41630 0 NA
19-36504285-G-A p.Asp5Asp synonymous ALKBH6 7 83252 8.40821E-5 41626 0 6.38529E-5
19-36504305-C-A p.Val27Leu missense ALKBH6 1 83208 1.20181E-5 41604 0 8.26037E-6
19-36504323-TCCTGTAGGGAGGGGAGGACATACTGAAGTCACTAGGCCTCCCGCCCTAACACCATGATGCAGCATTCCACCCCATCACAGGCCAGGCCTCA-T p.Ile21fs frameshift ALKBH6 7 83060 8.42764E-5 41530 0 NA
19-36504329-AGGGAGG-A c.-25-11_-25-6delCCTCCC splice_region ALKBH6 6 82932 7.23484E-5 41466 0 3.18809E-5
19-36504410-C-T c.-26+6G>A splice_region ALKBH6 1 71944 1.38997E-5 35972 0 NA
19-36504416-C-A c.-26G>T 5_prime_UTR_premature_start_codon_gain ALKBH6 1 70090 1.42674E-5 35045 0 NA
19-36504495-G-A c.-105C>T 5_prime_UTR_premature_start_codon_gain ALKBH6 1 40546 2.46633E-5 20273 0 NA
19-36504497-T-C c.-100-7A>G splice_region ALKBH6 1 40428 2.47353E-5 20214 0 NA
19-36504505-C-A c.-115G>T 5_prime_UTR_premature_start_codon_gain ALKBH6 1 39276 2.54608E-5 19638 0 NA
19-36504513-A-G c.-123T>C 5_prime_UTR_premature_start_codon_gain ALKBH6 1 38574 2.59242E-5 19287 0 NA
19-36504572-T-G c.-182A>C 5_prime_UTR_premature_start_codon_gain ALKBH6 3 34044 8.81213E-5 17022 0 NA
19-36504722-G-A c.-332C>T 5_prime_UTR_premature_start_codon_gain ALKBH6 14 29582 4.73261E-4 14791 0 5.10856E-4
19-36504755-C-A c.-365G>T 5_prime_UTR_premature_start_codon_gain ALKBH6 1 30692 3.25818E-5 15346 0 NA
19-36504878-C-G c.-488G>C 5_prime_UTR_premature_start_codon_gain ALKBH6 4 62660 6.38366E-5 31330 0 3.18715E-5
19-36505016-G-A c.-626C>T 5_prime_UTR_premature_start_codon_gain ALKBH6 1 80642 1.24005E-5 40321 0 NA
19-36505072-C-G c.-101+5G>C splice_region ALKBH6 3 82742 3.62573E-5 41371 0 NA
19-36505077-C-T p.Arg20Gln missense+splice_region ALKBH6 1 82844 1.20709E-5 41422 0 NA
19-36505081-C-A p.Gly19* stop_gained ALKBH6 3 82922 3.61786E-5 41461 0 NA
19-36505082-A-G p.Trp2Arg missense ALKBH6 2 82920 2.41196E-5 41460 0 NA
19-36505088-G-A c.-112C>T 5_prime_UTR_premature_start_codon_gain ALKBH6 3 82982 3.61524E-5 41491 0 1.21636E-5
19-36505096-C-T p.Gly14Arg missense ALKBH6 2 83076 2.40743E-5 41538 0 3.18532E-5
19-36505097-A-G p.Ile13Ile synonymous ALKBH6 4 83076 4.81487E-5 41538 0 8.23859E-6
19-36505111-A-T p.Leu9Met missense ALKBH6 1 83088 1.20354E-5 41544 0 1.6064E-5
19-36505114-T-A p.Met8Leu missense ALKBH6 2 83010 2.40935E-5 41505 0 1.65025E-5
19-36505115-C-T p.Gly7Gly synonymous ALKBH6 1 83072 1.20378E-5 41536 0 4.00481E-6