Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
2-111490265-C-G c.-109C>G 5_prime_UTR_premature_start_codon_gain ACOXL 1 21566 4.63693E-5 10783 0 NA
2-111490293-C-T c.-81C>T 5_prime_UTR_premature_start_codon_gain ACOXL 20 23098 8.65876E-4 11549 0 5.42265E-4
2-111525938-T-C c.-22-7T>C splice_region ACOXL 3 83064 3.61167E-5 41532 0 6.37308E-5
2-111526017-GTTAAA-G p.Leu18fs frameshift ACOXL 2 83254 2.40229E-5 41627 0 3.31323E-5
2-111526032-T-G p.Gly22Gly synonymous ACOXL 1 83186 1.20213E-5 41593 0 1.65722E-5
2-111526034-A-G p.Gln23Arg missense ACOXL 2 83174 2.4046E-5 41587 0 4.14339E-5
2-111526035-G-A p.Gln23Gln synonymous ACOXL 1 83172 1.20233E-5 41586 0 2.486E-5
2-111526038-T-TC p.Leu25fs frameshift ACOXL 2 83166 2.40483E-5 41583 0 1.65741E-5
2-111542301-A-G c.76-8A>G splice_region ACOXL 2 82854 2.41388E-5 41427 0 1.00082E-4
2-111542306-C-T c.76-3C>T splice_region ACOXL 1 82910 1.20613E-5 41455 0 NA
2-111542319-CA-C p.Lys30fs frameshift ACOXL 8 83002 9.63832E-5 41501 0 5.03525E-4
2-111542336-C-T p.Arg35* stop_gained ACOXL 4 83022 4.818E-5 41511 0 9.96214E-5
2-111542341-C-G p.Ser36Arg missense ACOXL 3 83040 3.61272E-5 41520 0 8.18083E-6
2-111542350-A-T p.Ile39Ile synonymous ACOXL 1 83048 1.20412E-5 41524 0 4.07392E-6
2-111542362-C-T p.Leu43Leu synonymous ACOXL 1 82998 1.20485E-5 41499 0 8.30979E-6
2-111542370-C-T p.Ala46Val missense ACOXL 2 82966 2.41063E-5 41483 0 4.15731E-5
2-111542377-G-A p.Met48Ile missense ACOXL 1 82922 1.20595E-5 41461 0 NA
2-111542383-A-C p.Thr50Thr synonymous ACOXL 46 82854 5.55193E-4 41427 0 4.4586E-4
2-111542392-G-A p.Lys53Lys splice_region+synonymous ACOXL 2 82778 2.4161E-5 41389 0 NA
2-111551222-T-G c.160-5T>G splice_region ACOXL 4 83198 4.80781E-5 41599 0 6.37064E-5
2-111551229-C-T p.Cys54Cys splice_region+synonymous ACOXL 1 83226 1.20155E-5 41613 0 3.20544E-5
2-111551256-T-C p.Gly63Gly synonymous ACOXL 1 83288 1.20065E-5 41644 0 6.37105E-5
2-111551260-A-G p.Ile65Val missense ACOXL 2 83288 2.40131E-5 41644 0 8.2802E-6
2-111551262-C-G p.Ile65Met missense ACOXL 1 83290 1.20062E-5 41645 0 1.20202E-5
2-111551271-C-T p.Leu68Leu synonymous ACOXL 2 83266 2.40194E-5 41633 0 6.25E-4
2-111551272-G-A p.Gly69Arg missense ACOXL 3 83262 3.60308E-5 41631 0 8.2802E-6
2-111551273-G-A p.Gly69Glu missense ACOXL 1 83266 1.20097E-5 41633 0 4.0068E-6
2-111551276-G-A p.Ser70Asn missense+splice_region ACOXL 26 83270 3.12237E-4 41635 1 4.0068E-6
2-111551307-A-T p.Pro80Pro synonymous ACOXL 1 83222 1.20161E-5 41611 0 8.28034E-6
2-111551309-T-A p.Leu81His missense ACOXL 1 83220 1.20163E-5 41610 0 NA
2-111551313-G-C p.Gln82His missense+splice_region ACOXL 1 83214 1.20172E-5 41607 0 4.00721E-6
2-111551317-T-C c.246+4T>C splice_region ACOXL 1 83200 1.20192E-5 41600 0 3.60698E-5
2-111551319-G-A c.246+6G>A splice_region ACOXL 1 83194 1.20201E-5 41597 0 NA
2-111551661-A-G p.Lys85Lys synonymous ACOXL 2 83162 2.40494E-5 41581 0 1.65725E-5
2-111551664-C-A p.Tyr86* stop_gained ACOXL 4 83174 4.8092E-5 41587 0 4.00769E-6
2-111551670-G-A p.Gly88Gly synonymous ACOXL 1 83208 1.20181E-5 41604 0 8.28514E-6
2-111551680-A-G p.Met92Val missense ACOXL 10 83198 1.20195E-4 41599 0 0.00151057
2-111551685-C-T p.Thr93Thr synonymous ACOXL 4 83194 4.80804E-5 41597 0 3.31389E-5
2-111551686-G-A p.Glu94Lys missense ACOXL 5 83224 6.00788E-5 41612 0 1.27421E-4
2-111551688-G-GA p.Arg95fs frameshift ACOXL 2 83238 2.40275E-5 41619 0 8.28473E-6
2-111551699-G-A p.Gly98Glu missense ACOXL 1 83258 1.20109E-5 41629 0 6.37024E-5
2-111551706-C-G p.Asn100Lys missense ACOXL 1 83234 1.20143E-5 41617 0 1.24228E-4
2-111551708-C-T p.Ala101Val missense ACOXL 17 83230 2.04253E-4 41615 0 0.00100705
2-111551709-G-A p.Ala101Ala synonymous ACOXL 1 83246 1.20126E-5 41623 0 4.00725E-6
2-111551724-C-T p.Thr106Thr synonymous ACOXL 2 83208 2.40361E-5 41604 0 6.37227E-5
2-111551724-C-G p.Thr106Thr synonymous ACOXL 2 83208 2.40361E-5 41604 0 8.01603E-6
2-111551725-G-A p.Glu107Lys missense ACOXL 450 83190 0.0054093 41595 5 0.01375
2-111551731-A-G p.Thr109Ala missense ACOXL 32 83134 3.84921E-4 41567 0 6.25E-4
2-111551751-G-C p.Gln115His missense+splice_region ACOXL 2 82950 2.41109E-5 41475 0 NA
2-111551757-G-A c.345+6G>A splice_region ACOXL 3 82830 3.62188E-5 41415 0 3.82166E-4
2-111556183-G-A c.346-4G>A splice_region ACOXL 4 83188 4.80839E-5 41594 0 0.00125
2-111556203-C-T p.Thr121Met missense ACOXL 2 83276 2.40165E-5 41638 0 0.001875
2-111556204-G-A p.Thr121Thr synonymous ACOXL 1 83282 1.20074E-5 41641 0 1.20203E-5
2-111556206-C-T p.Pro122Leu missense ACOXL 4 83288 4.80261E-5 41644 0 5.03525E-4
2-111556207-G-A p.Pro122Pro synonymous ACOXL 14 83294 1.68079E-4 41647 0 0.00100705
2-111556207-G-C p.Pro122Pro synonymous ACOXL 1 83294 1.20057E-5 41647 0 NA
2-111556209-G-A p.Cys123Tyr missense ACOXL 2 83302 2.4009E-5 41651 0 4.00683E-6
2-111556218-C-T p.Ala126Val missense ACOXL 5 83306 6.00197E-5 41653 0 5.03525E-4
2-111556219-G-T p.Ala126Ala synonymous ACOXL 1 83312 1.20031E-5 41656 0 4.0068E-6
2-111556219-G-A p.Ala126Ala synonymous ACOXL 3 83310 3.60101E-5 41655 0 0.00100705
2-111556227-T-A p.Met129Lys missense ACOXL 1 83318 1.20022E-5 41659 0 8.2802E-6
2-111556230-A-G p.Tyr130Cys missense ACOXL 2 83306 2.40079E-5 41653 0 2.00335E-5
2-111556244-A-G p.Met135Val missense ACOXL 1 83306 1.20039E-5 41653 0 NA
2-111556245-T-C p.Met135Thr missense ACOXL 32 83304 3.84135E-4 41652 0 0.0025
2-111556249-C-T p.Tyr136Tyr synonymous ACOXL 1 83308 1.20036E-5 41654 0 6.25E-4
2-111556259-G-T p.Ala140Ser missense ACOXL 3 83308 3.60109E-5 41654 0 6.36943E-5
2-111556278-T-C p.Leu146Pro missense ACOXL 1 83278 1.2008E-5 41639 0 NA
2-111556283-A-T p.Ile148Leu missense ACOXL 1 83270 1.20091E-5 41635 0 3.18451E-5
2-111556284-T-C p.Ile148Thr missense ACOXL 1 83272 1.20088E-5 41636 0 0.00100705
2-111556296-C-T p.Ser152Phe missense ACOXL 3 83256 3.60334E-5 41628 0 NA
2-111556301-G-T p.Gly154Trp missense+splice_region ACOXL 1 83254 1.20114E-5 41627 0 1.40803E-4
2-111556585-C-T c.461-6C>T splice_region ACOXL 1 83134 1.20288E-5 41567 0 NA
2-111556591-G-A p.Gly154Glu missense+splice_region ACOXL 2 83174 2.4046E-5 41587 0 5.06073E-4
2-111556597-A-T p.His156Leu missense ACOXL 4 83190 4.80827E-5 41595 0 1.98897E-5
2-111556597-A-G p.His156Arg missense ACOXL 1 83190 1.20207E-5 41595 0 NA
2-111556607-C-T p.Ile159Ile synonymous ACOXL 1 83196 1.20198E-5 41598 0 1.2751E-4
2-111556608-G-A p.Val160Ile missense ACOXL 4 83196 4.80792E-5 41598 0 3.18674E-5
2-111556616-C-T p.Val162Val synonymous ACOXL 1 83212 1.20175E-5 41606 0 NA
2-111556617-C-T p.Arg163Trp missense ACOXL 92 83208 0.00110566 41604 0 0.00274235
2-111556628-C-T p.Asn166Asn synonymous ACOXL 25 83212 3.00437E-4 41606 0 2.42742E-4
2-111556646-A-T p.Gly172Gly synonymous ACOXL 1 83236 1.2014E-5 41618 0 NA
2-111556657-T-C p.Ile176Thr missense ACOXL 3 83214 3.60516E-5 41607 0 2.78649E-5
2-111556682-G-A c.547+5G>A splice_region ACOXL 4 83120 4.81232E-5 41560 0 1.5926E-5
2-111556684-C-T c.547+7C>T splice_region ACOXL 1 83126 1.20299E-5 41563 0 NA
2-111559221-C-T c.548-8C>T splice_region ACOXL 4 83106 4.81313E-5 41553 0 1.64834E-5
2-111559230-T-G p.Gly183Gly splice_region+synonymous ACOXL 1 83154 1.20259E-5 41577 0 NA
2-111559231-C-A p.Leu184Met missense+splice_region ACOXL 1710 83076 0.0205836 41538 21 0.0225
2-111559247-A-G p.Asn189Ser missense ACOXL 1 83190 1.20207E-5 41595 0 8.23818E-6
2-111559248-T-G p.Asn189Lys missense ACOXL 1 83192 1.20204E-5 41596 0 3.977E-6
2-111559254-A-G p.Ile191Met missense ACOXL 1 83186 1.20213E-5 41593 0 3.1839E-5
2-111559261-T-C p.Phe194Leu missense ACOXL 19 83208 2.28343E-4 41604 0 2.54712E-4
2-111559265-A-G p.Asp195Gly missense ACOXL 1 83204 1.20187E-5 41602 0 6.36862E-5
2-111559268-A-G p.Lys196Arg missense ACOXL 1 83198 1.20195E-5 41599 0 8.23859E-6
2-111559273-C-T p.Arg198Trp missense ACOXL 1 83198 1.20195E-5 41599 0 6.37146E-5
2-111559279-C-T p.Pro200Ser missense ACOXL 1 83186 1.20213E-5 41593 0 5.03525E-4
2-111559296-G-A p.Leu205Leu synonymous ACOXL 1 83096 1.20343E-5 41548 0 NA
2-111559303-T-C c.620+2T>C splice_donor ACOXL 3 83078 3.61106E-5 41539 0 9.55292E-5
2-111562833-T-C c.621-7T>C splice_region ACOXL 1 83316 1.20025E-5 41658 0 2.38975E-5
2-111562841-T-A p.Phe208Ile missense+splice_region ACOXL 1 83328 1.20008E-5 41664 0 8.2409E-6
2-111562849-C-T p.Ser210Ser synonymous ACOXL 5 83334 5.99995E-5 41667 0 3.18451E-5
2-111562850-G-C p.Val211Leu missense ACOXL 2 83334 2.39998E-5 41667 0 8.23927E-6
2-111562851-T-A p.Val211Glu missense ACOXL 11 83334 1.31999E-4 41667 0 6.84414E-4
2-111562864-ACAGTAC-A p.Gln216_Tyr217del disruptive_inframe_deletion ACOXL 1 83352 1.19973E-5 41676 0 NA
2-111562871-C-T p.His218Tyr missense ACOXL 1 83362 1.19959E-5 41681 0 4.94218E-5
2-111562875-C-T p.Ser219Leu missense ACOXL 2289 83338 0.0274665 41669 46 0.0242023
2-111562876-G-A p.Ser219Ser synonymous ACOXL 133 83356 0.00159557 41678 0 0.00152925
2-111562880-A-G p.Ile221Val missense ACOXL 1 83362 1.19959E-5 41681 0 8.23655E-6
2-111562899-G-T p.Arg227Ile missense ACOXL 7 83364 8.39691E-5 41682 0 NA
2-111562901-T-C p.Phe228Leu missense ACOXL 8 83360 9.59693E-5 41680 0 5.03525E-4
2-111562911-T-C p.Met231Thr missense ACOXL 2 83362 2.39917E-5 41681 0 3.9764E-6
2-111562917-C-A p.Ala233Glu missense ACOXL 1 83354 1.1997E-5 41677 0 3.97636E-6
2-111562932-C-T p.Ser238Leu missense ACOXL 61 83348 7.31871E-4 41674 0 0.00149691
2-111562932-C-A p.Ser238* stop_gained ACOXL 2 83350 2.39952E-5 41675 0 3.9763E-6
2-111562943-G-A p.Val242Met missense ACOXL 17 83340 2.03984E-4 41670 0 2.38593E-5
2-111562943-G-T p.Val242Leu missense ACOXL 7 83340 8.39933E-5 41670 0 2.47105E-5
2-111562954-A-G p.Gln245Gln synonymous ACOXL 1 83314 1.20028E-5 41657 0 1.59067E-5
2-111562972-G-T p.Lys251Asn missense+splice_region ACOXL 1 83300 1.20048E-5 41650 0 NA
2-111562973-G-T c.753+1G>T splice_donor ACOXL 1 83296 1.20054E-5 41648 0 4.94364E-5
2-111598948-C-T p.Leu252Phe missense+splice_region ACOXL 2 81832 2.44403E-5 40916 0 NA
2-111598957-A-C p.Thr255Pro missense ACOXL 1 81842 1.22187E-5 40921 0 3.18492E-5
2-111598958-C-T p.Thr255Met missense ACOXL 14223 81150 0.175268 40575 1322 0.207186
2-111598962-A-G p.Ile256Met missense ACOXL 1 81860 1.2216E-5 40930 0 2.8855E-5
2-111598969-C-T p.Arg259Cys missense ACOXL 4 81842 4.88747E-5 40921 0 6.25E-4
2-111598970-G-A p.Arg259His missense ACOXL 1 81772 1.22291E-5 40886 0 2.41579E-5
2-111598971-C-T p.Arg259Arg synonymous ACOXL 2 81844 2.44367E-5 40922 0 6.36699E-5
2-111598973-A-G p.Tyr260Cys missense ACOXL 2 81816 2.44451E-5 40908 0 3.18451E-5
2-111598978-C-T p.His262Tyr missense ACOXL 1 81818 1.22222E-5 40909 0 4.03161E-6
2-111598983-G-A c.788+1G>A splice_donor ACOXL 37 81750 4.52599E-4 40875 0 2.99387E-4
2-111644354-CT-C c.789-3delT splice_region ACOXL 2 52908 3.78015E-5 26454 0 NA
2-111644367-C-T p.Ile266Ile synonymous ACOXL 1 52952 1.8885E-5 26476 0 NA
2-111644382-C-G p.Cys271Trp missense ACOXL 1 52988 1.88722E-5 26494 0 NA
2-111644391-T-C p.Ala274Ala synonymous ACOXL 1 52982 1.88743E-5 26491 0 3.18471E-5
2-111666360-C-T c.789-6C>T splice_region ACOXL 2 83006 2.40946E-5 41503 0 NA
2-111666367-C-T p.Arg264Trp missense+splice_region ACOXL 547 83008 0.00658973 41504 8 0.0127707
2-111666368-G-A p.Arg264Gln missense+splice_region ACOXL 123 83050 0.00148104 41525 0 0.00156395
2-111666372-G-A p.Arg265Arg synonymous ACOXL 1 83028 1.20441E-5 41514 0 8.24565E-6
2-111666380-G-T p.Gly268Val missense ACOXL 1 83058 1.20398E-5 41529 0 NA
2-111666385-A-C p.Lys270Gln missense ACOXL 1 83066 1.20386E-5 41533 0 2.38924E-5
2-111666390-C-T p.Thr271Thr synonymous ACOXL 2 83066 2.40772E-5 41533 0 3.98216E-6
2-111666391-A-G p.Lys272Glu missense ACOXL 2 83072 2.40755E-5 41536 0 4.94381E-5
2-111666409-A-C p.Ile278Leu missense ACOXL 1 83078 1.20369E-5 41539 0 3.98092E-6
2-111666411-T-A p.Ile278Ile synonymous ACOXL 2 83074 2.40749E-5 41537 0 NA
2-111666414-G-A p.Glu279Glu synonymous ACOXL 1 83068 1.20383E-5 41534 0 3.98153E-6
2-111666424-C-T p.Gln283* stop_gained ACOXL 1 83034 1.20433E-5 41517 0 7.41583E-5
2-111666433-C-T p.Arg286Trp missense ACOXL 3 82980 3.61533E-5 41490 0 3.98356E-5
2-111666436-C-A p.Leu287Met missense ACOXL 1 82968 1.20528E-5 41484 0 NA
2-111666442-C-T p.Pro289Ser missense ACOXL 1 82914 1.20607E-5 41457 0 3.18451E-5
2-111666447-C-T p.His290His synonymous ACOXL 11 82922 1.32655E-4 41461 0 4.1396E-4
2-111666471-C-T p.Thr298Thr synonymous ACOXL 1 82772 1.20814E-5 41386 0 NA
2-111666475-G-A p.Val300Ile missense ACOXL 6 82696 7.25549E-5 41348 0 0.00101215
2-111666487-G-A c.905+5G>A splice_region ACOXL 16 82598 1.93709E-4 41299 0 0.00125
2-111666488-A-G c.905+6A>G splice_region ACOXL 3 82592 3.63231E-5 41296 0 NA
2-111691068-A-G p.Tyr303Cys missense+splice_region ACOXL 2 82378 2.42783E-5 41189 0 5.03525E-4
2-111691075-G-T p.Gly305Gly synonymous ACOXL 1 82410 1.21345E-5 41205 0 8.33667E-6
2-111691086-A-T p.Asp309Val missense ACOXL 2 82496 2.42436E-5 41248 0 NA
2-111691090-G-A p.Glu310Glu synonymous ACOXL 2 82528 2.42342E-5 41264 0 NA
2-111691091-G-A p.Asp311Asn missense ACOXL 1 82536 1.21159E-5 41268 0 NA
2-111691094-G-A p.Val312Ile missense ACOXL 8 82532 9.69321E-5 41266 0 6.36983E-5
2-111691112-C-G p.Leu318Val missense ACOXL 1 82526 1.21174E-5 41263 0 NA
2-111691119-A-G p.Asn320Ser missense ACOXL 2 82528 2.42342E-5 41264 0 NA
2-111691122-G-A p.Ser321Asn missense ACOXL 4 82504 4.84825E-5 41252 0 3.31389E-5
2-111691124-C-T p.Arg322Cys missense ACOXL 2 82474 2.42501E-5 41237 0 1.19377E-5
2-111691125-G-A p.Arg322His missense ACOXL 6 82434 7.27855E-5 41217 0 6.25E-4
2-111691128-C-T p.Ser323Leu missense ACOXL 1 82384 1.21383E-5 41192 0 1.19389E-5
2-111691129-G-A p.Ser323Ser synonymous ACOXL 1 82366 1.21409E-5 41183 0 7.95976E-6
2-111691146-C-T p.Ala329Val missense ACOXL 8 82232 9.72857E-5 41116 0 7.50225E-5
2-111691147-G-A p.Ala329Ala synonymous ACOXL 1712 82206 0.0208257 41103 131 0.0506232
2-111691153-G-T p.Leu331Leu synonymous ACOXL 47 82140 5.72194E-4 41070 1 0.00143294
2-111691161-A-G p.Tyr334Cys missense ACOXL 2 82026 2.43825E-5 41013 0 NA
2-111691169-TG-T p.Glu338fs frameshift ACOXL 2 81834 2.44397E-5 40917 0 8.44252E-6
2-111691177-C-T p.Asn339Asn synonymous ACOXL 1 81782 1.22276E-5 40891 0 3.18451E-5
2-111691181-C-T p.Arg341Cys missense ACOXL 41 81644 5.0218E-4 40822 0 2.91816E-4
2-111691182-G-A p.Arg341His missense ACOXL 11 81576 1.34844E-4 40788 0 0.00101729
2-111691199-C-T p.Arg347Cys missense ACOXL 5 81050 6.16903E-5 40525 0 6.26566E-4
2-111691201-C-T p.Arg347Arg synonymous ACOXL 106 80858 0.00131094 40429 0 7.40163E-4
2-111691208-A-G p.Thr350Ala missense ACOXL 1 80592 1.24082E-5 40296 0 6.28141E-4
2-111691215-G-C p.Gly352Ala missense ACOXL 2 80330 2.48973E-5 40165 0 1.62317E-5
2-111691226-C-T c.1059+7C>T splice_region ACOXL 1 79852 1.25232E-5 39926 0 6.86032E-5
2-111691226-C-A c.1059+7C>A splice_region ACOXL 1 79852 1.25232E-5 39926 0 3.18512E-5
2-111721195-C-G c.1060-6C>G splice_region ACOXL 2 58934 3.39363E-5 29467 0 8.25273E-6
2-111721220-G-A p.Arg360Gln missense ACOXL 263 59008 0.00445702 29504 5 0.0075
2-111721258-A-G p.Thr373Ala missense ACOXL 1 59076 1.69273E-5 29538 0 3.97697E-6
2-111721272-C-T p.Asp377Asp synonymous ACOXL 5 59080 8.4631E-5 29540 0 9.885E-5
2-111721273-G-A p.Asp378Asn missense ACOXL 2 59082 3.38513E-5 29541 0 6.37389E-5
2-111721282-A-G p.Met381Val missense ACOXL 2 59072 3.3857E-5 29536 0 NA
2-111744681-A-C c.1150-4A>C splice_region ACOXL 47 82150 5.72124E-4 41075 0 0.00143294
2-111744691-G-A p.Gly386Arg missense ACOXL 2 82206 2.43291E-5 41103 0 3.82857E-5
2-111744694-C-T p.Arg387Trp missense ACOXL 5 82202 6.08258E-5 41101 0 1.13182E-4
2-111744695-G-A p.Arg387Gln missense ACOXL 3 82216 3.64892E-5 41108 0 3.73497E-5
2-111744707-C-G p.Ala391Gly missense ACOXL 1 82272 1.21548E-5 41136 0 NA
2-111744716-C-T p.Thr394Ile missense ACOXL 1 82286 1.21527E-5 41143 0 NA
2-111744718-A-C p.Lys395Gln missense ACOXL 1 82302 1.21504E-5 41151 0 6.55136E-5
2-111744730-G-A p.Glu399Lys missense ACOXL 1 82330 1.21462E-5 41165 0 6.21891E-5
2-111744738-A-C p.Pro401Pro synonymous ACOXL 1445 82282 0.0175616 41141 23 0.0287384
2-111744746-G-A p.Gly404Asp missense ACOXL 9 82304 1.09351E-4 41152 0 5.05561E-4
2-111744749-TGCTCCAAAACTG-T p.Leu406_Trp409del conservative_inframe_deletion ACOXL 1 82306 1.21498E-5 41153 0 4.98495E-6
2-111744756-A-G p.Gln407Gln synonymous ACOXL 1 82278 1.21539E-5 41139 0 NA
2-111744762-G-C p.Trp409Cys missense ACOXL 1 82266 1.21557E-5 41133 0 NA
2-111744765-T-C p.Ala410Ala synonymous ACOXL 1 82246 1.21586E-5 41123 0 NA
2-111744766-G-C p.Glu411Gln missense ACOXL 1 82250 1.21581E-5 41125 0 3.18532E-5
2-111744770-CTG-C p.Val413fs frameshift ACOXL 1 82228 1.21613E-5 41114 0 NA
2-111744772-G-A p.Val413Met missense ACOXL 3 82206 3.64937E-5 41103 0 0.00151668
2-111744774-G-C p.Val413Val synonymous ACOXL 122 82202 0.00148415 41101 0 0.00606673
2-111744774-G-A p.Val413Val synonymous ACOXL 1 82208 1.21643E-5 41104 0 NA
2-111744778-G-A p.Asp415Asn missense ACOXL 1 82194 1.21663E-5 41097 0 1.24486E-4
2-111744795-G-C c.1259+1G>C splice_donor ACOXL 2 82094 2.43623E-5 41047 0 NA
2-111744799-G-A c.1259+5G>A splice_region ACOXL 3 82052 3.65622E-5 41026 0 1.05278E-4
2-111753471-T-C p.Phe421Leu missense+splice_region ACOXL 1 83130 1.20294E-5 41565 0 NA
2-111753487-T-C p.Met426Thr missense ACOXL 4 83206 4.80735E-5 41603 0 3.18451E-5
2-111753506-C-T p.Leu432Leu synonymous ACOXL 3 83260 3.60317E-5 41630 0 1.59115E-5
2-111753507-G-T p.Ala433Ser missense ACOXL 1 83264 1.201E-5 41632 0 NA
2-111753507-G-A p.Ala433Thr missense ACOXL 1 83264 1.201E-5 41632 0 6.47752E-5
2-111753517-T-G p.Leu436Trp missense ACOXL 2 83298 2.40102E-5 41649 0 8.23859E-6
2-111753527-G-A p.Val439Val synonymous ACOXL 1 83320 1.20019E-5 41660 0 NA
2-111753533-T-C p.Phe441Phe synonymous ACOXL 1 83312 1.20031E-5 41656 0 NA
2-111753534-C-T p.Arg442Cys missense ACOXL 75 83308 9.00274E-4 41654 0 0.004375
2-111753535-G-A p.Arg442His missense ACOXL 9 83302 1.08041E-4 41651 0 2.39223E-4
2-111753535-G-T p.Arg442Leu missense ACOXL 2 83302 2.4009E-5 41651 0 NA
2-111753542-GGTTCTTCAGCGGGGTTTGGTGGCCAGAATTTATTATAAGGTAAAGATACACTGT-G p.Val445_Lys457del splice_donor ACOXL 1052 82410 0.0127654 41205 75 0.0389332
2-111753543-G-T p.Val445Phe missense ACOXL 134 83288 0.00160888 41644 1 8.3218E-4
2-111753546-C-T p.Leu446Phe missense ACOXL 2 83082 2.40726E-5 41541 0 NA
2-111753552-C-T p.Arg448Trp missense ACOXL 103 83050 0.00124022 41525 1 0.00255836
2-111753553-G-A p.Arg448Gln missense ACOXL 2 83060 2.4079E-5 41530 0 5.61631E-5
2-111753555-G-C p.Gly449Arg missense ACOXL 1 83060 1.20395E-5 41530 0 NA
2-111775459-G-C n.267-5G>C splice_region ACOXL 1 6 0.166667 3 0 0.146078
2-111789206-A-G p.Val458Val splice_region+synonymous ACOXL 1 83104 1.20331E-5 41552 0 NA
2-111789218-G-A p.Lys462Lys synonymous ACOXL 2 83166 2.40483E-5 41583 0 3.18492E-5
2-111789221-G-C p.Glu463Asp missense ACOXL 1 83188 1.2021E-5 41594 0 1.19318E-5
2-111789223-A-AT p.His467fs frameshift ACOXL 5 83198 6.00976E-5 41599 0 5.03525E-4
2-111789232-A-G p.His467Arg missense ACOXL 2 83206 2.40367E-5 41603 0 NA
2-111789244-C-T p.Ser471Leu missense ACOXL 3 83236 3.60421E-5 41618 0 1.6478E-5
2-111789245-G-A p.Ser471Ser synonymous ACOXL 1 83222 1.20161E-5 41611 0 3.8722E-4
2-111789246-T-C p.Cys472Arg missense ACOXL 1 83234 1.20143E-5 41617 0 NA
2-111789252-C-CT p.His474fs frameshift ACOXL 1 83224 1.20158E-5 41612 0 3.5795E-5
2-111789255-C-T p.His475Tyr missense ACOXL 1 83222 1.20161E-5 41611 0 3.97712E-6
2-111789258-G-A p.Val476Met missense ACOXL 6 83216 7.21015E-5 41608 0 1.07385E-4
2-111789269-G-A p.Leu479Leu synonymous ACOXL 15 83220 1.80245E-4 41610 0 4.77859E-4
2-111789269-G-T p.Leu479Leu synonymous ACOXL 2 83220 2.40327E-5 41610 0 6.59044E-5
2-111789287-C-A p.His485Gln missense ACOXL 28 83140 3.36781E-4 41570 0 7.96381E-4
2-111789288-C-T p.Arg486* stop_gained ACOXL 6 83144 7.2164E-5 41572 0 6.25E-4
2-111789289-G-A p.Arg486Gln missense+splice_region ACOXL 3 83124 3.60907E-5 41562 0 2.47207E-5
2-111789296-G-A c.1459+5G>A splice_region ACOXL 8 83092 9.62788E-5 41546 0 4.69708E-4
2-111806794-G-T c.1460-1G>T splice_acceptor ACOXL 14 81622 1.71522E-4 40811 0 3.18532E-4
2-111806803-G-C p.Ter107Tyrext*? stop_lost ACOXL 1 81850 1.22175E-5 40925 0 1.19369E-5
2-111806821-G-A p.Val496Met missense ACOXL 1 82004 1.21945E-5 41002 0 NA
2-111806832-T-A p.Cys499* stop_gained ACOXL 104 82044 0.00126761 41022 0 0.010574
2-111806833-C-T p.Pro500Ser missense ACOXL 3 82058 3.65595E-5 41029 0 NA
2-111806868-A-G c.1530+3A>G splice_region ACOXL 2 81418 2.45646E-5 40709 0 NA
2-111850450-G-T p.Val77Phe missense ACOXL 47 83276 5.64388E-4 41638 0 3.46244E-4
2-111850455-AT-A p.Tyr515fs frameshift ACOXL 6 83286 7.20409E-5 41643 0 NA
2-111850455-A-G p.Tyr515Cys missense ACOXL 1 83286 1.20068E-5 41643 0 7.95703E-6
2-111850460-A-G p.Thr517Ala missense ACOXL 1 83298 1.20051E-5 41649 0 NA
2-111850469-G-T p.Val520Leu missense ACOXL 2 83306 2.40079E-5 41653 0 NA
2-111850481-C-T p.Arg524Trp missense ACOXL 4 83316 4.801E-5 41658 0 1.1935E-5
2-111850482-G-T p.Arg524Leu missense ACOXL 4 83300 4.80192E-5 41650 0 1.59398E-4
2-111850482-G-A p.Arg524Gln missense ACOXL 14 83302 1.68063E-4 41651 0 5.04541E-4
2-111850486-C-T p.Ala525Ala synonymous ACOXL 3 83322 3.60049E-5 41661 0 8.23954E-6
2-111850488-G-T p.Trp526Leu missense ACOXL 3 83320 3.60058E-5 41660 0 3.18878E-5
2-111850494-T-C p.Leu528Ser missense ACOXL 3 83312 3.60092E-5 41656 0 6.25E-4
2-111850512-C-T p.Thr534Ile missense ACOXL 84 83256 0.00100894 41628 3 0.00625
2-111850514-C-T p.Pro535Ser missense ACOXL 5 83258 6.00543E-5 41629 0 2.38715E-5
2-111850515-C-T p.Pro535Leu missense ACOXL 3507 83180 0.0421616 41590 112 0.0581922
2-111850517-A-G p.Met536Val missense ACOXL 2 83238 2.40275E-5 41619 0 1.19352E-5
2-111850520-G-C p.Ala537Pro missense ACOXL 1 83212 1.20175E-5 41606 0 NA
2-111850521-C-T p.Ala537Val missense ACOXL 3 83216 3.60508E-5 41608 0 1.59429E-4
2-111850522-C-T p.Ala537Ala synonymous ACOXL 2 83212 2.4035E-5 41606 0 NA
2-111850527-C-T p.Thr539Met missense ACOXL 1 83192 1.20204E-5 41596 0 3.1904E-5
2-111850528-G-A p.Thr539Thr synonymous ACOXL 14 83178 1.68314E-4 41589 0 9.5527E-5
2-111850531-G-A p.Arg540Arg synonymous ACOXL 4 83170 4.80943E-5 41585 0 5.7731E-5
2-111850537-G-T p.Arg542Ser missense ACOXL 1 83130 1.20294E-5 41565 0 NA
2-111850544-G-A c.1632+1G>A splice_donor ACOXL 1 83060 1.20395E-5 41530 0 NA
2-111850547-A-G c.1632+4A>G splice_region ACOXL 2 83038 2.40854E-5 41519 0 NA
2-111875187-T-G c.1543-6T>G splice_region ACOXL 1 82164 1.21708E-5 41082 0 NA
2-111875219-G-A p.Lys523Lys synonymous ACOXL 3 82350 3.64299E-5 41175 0 1.27543E-5
2-111875231-G-T p.Arg527Arg synonymous ACOXL 1 82390 1.21374E-5 41195 0 NA
2-111875234-G-C p.Arg528Ser missense ACOXL 2 82406 2.42701E-5 41203 0 4.59728E-5
2-111875244-A-G p.Thr532Ala missense ACOXL 2 82390 2.42748E-5 41195 0 3.19285E-5
2-111875247-T-C p.Phe533Leu missense ACOXL 3 82416 3.64007E-5 41208 0 3.76751E-4
2-111875247-T-G p.Phe533Val missense ACOXL 1 82416 1.21336E-5 41208 0 NA
2-111875248-T-G p.Phe533Cys missense ACOXL 1 82418 1.21333E-5 41209 0 NA
2-111875254-T-TTCCACACACCTACC p.Ala542fs frameshift ACOXL 1 82410 1.21345E-5 41205 0 NA
2-111875258-A-G p.Pro536Pro synonymous ACOXL 2 82412 2.42683E-5 41206 0 NA
2-111875262-A-C p.Thr538Pro missense ACOXL 2 82402 2.42713E-5 41201 0 NA
2-111875284-C-A p.Ala545Asp missense ACOXL 1 82338 1.21451E-5 41169 0 NA
2-111875284-C-T p.Ala545Val missense ACOXL 2 82338 2.42901E-5 41169 0 NA
2-111875291-C-T p.Ile547Ile synonymous ACOXL 1 82338 1.21451E-5 41169 0 NA
2-111875299-C-T p.Pro550Leu missense ACOXL 2 82262 2.43126E-5 41131 0 3.19428E-5
2-111875302-G-A p.Arg551Gln missense ACOXL 2 82256 2.43143E-5 41128 0 NA
2-111875303-G-A p.Arg551Arg synonymous ACOXL 2 82268 2.43108E-5 41134 0 6.38896E-6
2-111875307-G-A p.Ala553Thr missense ACOXL 1 82216 1.21631E-5 41108 0 3.18573E-5
2-111875309-G-T p.Ala553Ala synonymous ACOXL 1 82220 1.21625E-5 41110 0 NA
2-111875317-T-TC p.Tyr557fs frameshift ACOXL 7 82126 8.52349E-5 41063 0 1.86498E-4
2-111875329-C-T p.Pro560Leu missense ACOXL 1 82012 1.21933E-5 41006 0 1.28115E-5
2-111875331-C-T p.Leu561Leu synonymous ACOXL 2 81992 2.43926E-5 40996 0 NA
2-111875334-C-T p.Gln562* stop_gained ACOXL 39 81960 4.75842E-4 40980 1 3.18451E-5
2-111875343-C-G p.Pro565Ala missense ACOXL 1 81866 1.22151E-5 40933 0 1.94024E-4
2-111875345-A-G p.Pro565Pro synonymous ACOXL 1 81822 1.22217E-5 40911 0 NA
2-111875346-C-T p.Arg566Trp missense ACOXL 19 81798 2.3228E-4 40899 0 1.48883E-4
2-111875348-G-T p.Arg566Arg synonymous ACOXL 1 81786 1.2227E-5 40893 0 3.18552E-5
2-111875359-G-T p.Arg570Leu missense ACOXL 3 81322 3.68904E-5 40661 0 9.09965E-5
2-111875364-C-T p.Arg572Trp missense ACOXL 1 81156 1.23219E-5 40578 0 NA
2-111875366-G-C p.Arg572Arg synonymous ACOXL 2 80944 2.47084E-5 40472 0 3.18573E-5
2-111875371-C-T p.Pro574Leu missense ACOXL 1 80808 1.2375E-5 40404 0 NA
2-111875374-A-G p.Lys575Arg missense ACOXL 45 80700 5.57621E-4 40350 0 0.00248756
2-111875379-G-T p.Gly577* stop_gained ACOXL 501 80424 0.00622948 40212 2 0.00669259
2-111875388-C-T p.Leu580Phe missense ACOXL 1396 79674 0.0175214 39837 13 0.0198511
2-111875388-C-G p.Leu580Val missense ACOXL 2 79772 2.50715E-5 39886 0 NA
2-111875391-T-C p.Ter581Glnext*? stop_lost ACOXL 183 79524 0.00230119 39762 0 0.00539041
2-111875392-A-C p.Ter581Serext*? stop_lost ACOXL 1 79448 1.25868E-5 39724 0 NA
2-111875799-G-A c.*406G>A splice_region ACOXL 1 1958 5.10725E-4 979 0 4.99216E-4