Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
12-19592639-C-T p.Ala2Ala synonymous AEBP2 1 41432 2.41359E-5 20716 0 0.00188917
12-19592655-A-G p.Met8Val missense AEBP2 1 42670 2.34357E-5 21335 0 NA
12-19592669-G-A p.Glu12Glu synonymous AEBP2 1 43126 2.31879E-5 21563 0 NA
12-19592670-G-A p.Glu13Lys missense AEBP2 1 43138 2.31814E-5 21569 0 9.01567E-6
12-19592673-C-G p.Leu14Val missense AEBP2 1 43110 2.31965E-5 21555 0 NA
12-19592682-C-T p.Leu17Leu synonymous AEBP2 1 43290 2.31E-5 21645 0 2.83715E-4
12-19592686-G-A p.Ser18Asn missense AEBP2 1 43272 2.31096E-5 21636 0 NA
12-19592689-C-T p.Pro19Leu missense AEBP2 1 43282 2.31043E-5 21641 0 NA
12-19592690-T-G p.Pro19Pro synonymous AEBP2 1 43222 2.31364E-5 21611 0 NA
12-19592691-C-G p.Leu20Val missense AEBP2 1 43266 2.31128E-5 21633 0 NA
12-19592694-C-T p.Pro21Ser missense AEBP2 5 43100 1.16009E-4 21550 0 9.62711E-5
12-19592699-C-T p.Pro22Pro synonymous AEBP2 1 42994 2.32591E-5 21497 0 NA
12-19592701-G-C p.Gly23Ala missense AEBP2 2 42858 4.66657E-5 21429 0 1.8357E-5
12-19592706-C-T p.Pro25Ser missense AEBP2 2 42802 4.67268E-5 21401 0 NA
12-19592709-G-C p.Gly26Arg missense AEBP2 12 42706 2.80991E-4 21353 0 5.81395E-4
12-19592720-G-A p.Ala29Ala synonymous AEBP2 3 42228 7.10429E-5 21114 0 2.0028E-4
12-19592721-C-T p.Arg30Trp missense AEBP2 1 42056 2.37778E-5 21028 0 NA
12-19592727-C-T p.Arg32Trp missense AEBP2 1 41800 2.39234E-5 20900 0 NA
12-19592739-C-G p.Pro36Ala missense AEBP2 2 41404 4.83045E-5 20702 0 5.12985E-4
12-19592741-CGAG-C p.Glu41del disruptive_inframe_deletion AEBP2 3 41296 7.26463E-5 20648 0 0.0029656
12-19592741-CGAGGAGGAGGAGGAA-C p.Glu44_Glu48del disruptive_inframe_deletion AEBP2 10 41306 2.42096E-4 20653 0 3.24123E-4
12-19592741-CGAGGAG-C p.Glu40_Glu41del disruptive_inframe_deletion AEBP2 1 41306 2.42096E-5 20653 0 NA
12-19592741-C-CGAG p.Glu41dup disruptive_inframe_insertion AEBP2 1 41306 2.42096E-5 20653 0 NA
12-19592745-G-A p.Glu38Lys missense AEBP2 1 41324 2.4199E-5 20662 0 3.19468E-5
12-19592749-A-G p.Glu39Gly missense AEBP2 1 41044 2.43641E-5 20522 0 NA
12-19592754-G-A p.Glu41Lys missense AEBP2 1 41006 2.43867E-5 20503 0 NA
12-19592756-AGAG-A p.Glu46del disruptive_inframe_deletion AEBP2 1 40856 2.44762E-5 20428 0 6.11247E-4
12-19592756-A-G p.Glu41Glu synonymous AEBP2 1 40864 2.44714E-5 20432 0 3.23206E-5
12-19592756-A-AGAGGAGGAGGAGGAAGAG p.Glu43_Glu48dup disruptive_inframe_insertion AEBP2 1 40864 2.44714E-5 20432 0 NA
12-19592769-G-A p.Glu46Lys missense AEBP2 1 40776 2.45242E-5 20388 0 NA
12-19592779-C-A p.Ala49Glu missense AEBP2 1 40636 2.46087E-5 20318 0 NA
12-19592779-C-T p.Ala49Val missense AEBP2 1 40634 2.46099E-5 20317 0 6.45161E-4
12-19592783-G-A p.Glu50Glu synonymous AEBP2 2 40688 4.91545E-5 20344 0 NA
12-19592787-G-C p.Glu52Gln missense AEBP2 1 40718 2.45592E-5 20359 0 NA
12-19592794-T-TGGCGGC p.Ala55_Ala56dup conservative_inframe_insertion AEBP2 1 40564 2.46524E-5 20282 0 NA
12-19592797-C-T p.Ala55Val missense AEBP2 4 40582 9.85659E-5 20291 0 1.35259E-5
12-19592817-G-A p.Gly62Ser missense AEBP2 1 40628 2.46136E-5 20314 0 NA
12-19592817-G-T p.Gly62Cys missense AEBP2 1 40628 2.46136E-5 20314 0 NA
12-19592820-AGCGGTGGGGGCG-A p.Gly65_Gly68del disruptive_inframe_deletion AEBP2 1 40508 2.46865E-5 20254 0 NA
12-19592828-GGGCGGCGGAGGC-G p.Gly70_Gly73del disruptive_inframe_deletion AEBP2 55 40738 0.00135009 20369 0 0.016286
12-19592828-GGGCGGCGGA-G p.Gly69_Gly71del disruptive_inframe_deletion AEBP2 13 40740 3.19097E-4 20370 0 2.87448E-4
12-19592828-G-GGGCGGCGGA p.Gly69_Gly71dup disruptive_inframe_insertion AEBP2 4 40740 9.81836E-5 20370 0 3.19387E-5
12-19592833-G-A p.Gly67Asp missense AEBP2 1 40616 2.46208E-5 20308 0 2.3822E-5
12-19592834-C-G p.Gly67Gly synonymous AEBP2 1 40438 2.47292E-5 20219 0 NA
12-19592855-G-C p.Val74Val synonymous AEBP2 6 40880 1.46771E-4 20440 0 6.44164E-5
12-19592855-G-T p.Val74Val synonymous AEBP2 1 40878 2.4463E-5 20439 0 NA
12-19592855-G-A p.Val74Val synonymous AEBP2 2 40880 4.89237E-5 20440 0 3.22082E-5
12-19592860-G-T p.Gly76Val missense AEBP2 1 40968 2.44093E-5 20484 0 6.32911E-4
12-19592871-G-C p.Glu80Gln missense AEBP2 1 41416 2.41453E-5 20708 0 8.88462E-6
12-19592874-A-G p.Thr81Ala missense AEBP2 2 41476 4.82207E-5 20738 0 NA
12-19592881-C-G p.Ser83Trp missense AEBP2 3 41676 7.19839E-5 20838 0 6.50068E-5
12-19592882-G-T p.Ser83Ser synonymous AEBP2 1 41812 2.39166E-5 20906 0 NA
12-19592884-A-G p.Glu84Gly missense AEBP2 1 41818 2.39131E-5 20909 0 8.73988E-6
12-19592890-G-T p.Ser86Ile missense AEBP2 1 42160 2.37192E-5 21080 0 3.21626E-5
12-19592894-C-T p.Pro87Pro synonymous AEBP2 2 43182 4.63156E-5 21591 0 0.00112613
12-19592903-C-T p.Ala90Ala synonymous AEBP2 1 44232 2.26081E-5 22116 0 NA
12-19592912-C-G p.Ala93Ala synonymous AEBP2 5 44686 1.11892E-4 22343 0 0.00125628
12-19592914-G-GGGAGGACGAAGACGAGGA p.Glu97_Asp102dup disruptive_inframe_insertion AEBP2 1 45074 2.21857E-5 22537 0 1.6198E-5
12-19592922-G-C p.Glu97Gln missense AEBP2 1 45310 2.20702E-5 22655 0 6.78794E-5
12-19592927-C-G p.Asp98Glu missense AEBP2 1 45360 2.20459E-5 22680 0 8.16593E-6
12-19592927-C-A p.Asp98Glu missense AEBP2 1 45360 2.20459E-5 22680 0 NA
12-19592936-G-C p.Glu101Asp missense AEBP2 2 45824 4.36453E-5 22912 0 3.20426E-5
12-19592936-G-GGAC p.Asp103dup disruptive_inframe_insertion AEBP2 6 45824 1.30936E-4 22912 0 1.91461E-4
12-19592939-C-G p.Asp102Glu missense AEBP2 15 45708 3.2817E-4 22854 0 6.03784E-4
12-19592939-C-T p.Asp102Asp synonymous AEBP2 33 45706 7.22006E-4 22853 0 0.00250941
12-19592955-G-A p.Asp108Asn missense AEBP2 2 46180 4.33088E-5 23090 0 NA
12-19592971-G-A p.Ser113Asn missense AEBP2 1 45702 2.18809E-5 22851 0 3.18796E-5
12-19592978-G-C p.Gly115Gly synonymous AEBP2 1 45284 2.20829E-5 22642 0 8.22774E-6
12-19592980-G-T p.Gly116Val missense AEBP2 2 45088 4.43577E-5 22544 0 4.13052E-5
12-19592982-G-C p.Glu117Gln missense AEBP2 1 44324 2.25611E-5 22162 0 NA
12-19593010-T-TGGGCAGCAGCGGCGG p.Gly127_Gly131dup conservative_inframe_insertion AEBP2 1 43744 2.28603E-5 21872 0 NA
12-19593018-A-G p.Ser129Gly missense AEBP2 2 43520 4.59559E-5 21760 0 9.4602E-6
12-19593041-G-A p.Glu136Glu synonymous AEBP2 1 41996 2.38118E-5 20998 0 1.93975E-5
12-19593045-C-A p.Arg138Ser missense AEBP2 1 41966 2.38288E-5 20983 0 NA
12-19593061-G-A p.Gly143Asp missense AEBP2 1 41832 2.39051E-5 20916 0 NA
12-19593067-C-G p.Ala145Gly missense AEBP2 1 41922 2.38538E-5 20961 0 NA
12-19593076-G-C p.Ser148Thr missense AEBP2 2 42080 4.75285E-5 21040 0 NA
12-19593077-C-T p.Ser148Ser synonymous AEBP2 1 42046 2.37835E-5 21023 0 1.35612E-4
12-19593080-C-T p.Ser149Ser synonymous AEBP2 1 41960 2.38322E-5 20980 0 9.80334E-6
12-19593083-G-A p.Gly150Gly synonymous AEBP2 19 42024 4.52123E-4 21012 0 2.23742E-4
12-19593086-T-A p.Asp151Glu missense AEBP2 7 41970 1.66786E-4 20985 0 6.93866E-4
12-19593092-C-T p.Asp153Asp synonymous AEBP2 28 41814 6.69632E-4 20907 0 0.00419287
12-19593104-C-T p.Gly157Gly synonymous AEBP2 10 41696 2.39831E-4 20848 0 4.82998E-4
12-19593114-C-T p.Pro161Ser missense AEBP2 1 41638 2.40165E-5 20819 0 1.3323E-5
12-19593114-C-G p.Pro161Ala missense AEBP2 1 41638 2.40165E-5 20819 0 1.3323E-5
12-19593124-C-T p.Pro164Leu missense AEBP2 2 41432 4.82719E-5 20716 0 3.22082E-5
12-19593134-C-T p.Ser167Ser synonymous AEBP2 1 41326 2.41978E-5 20663 0 0.00204499
12-19593140-C-T p.Gly169Gly synonymous AEBP2 2 41258 4.84754E-5 20629 0 NA
12-19593155-C-T p.Gly174Gly synonymous AEBP2 1 41302 2.42119E-5 20651 0 3.71996E-5
12-19593182-C-T p.Ser183Ser synonymous AEBP2 1 41046 2.43629E-5 20523 0 NA
12-19593185-C-T p.Gly184Gly synonymous AEBP2 2 40926 4.88687E-5 20463 0 5.09165E-4
12-19593208-G-T p.Gly192Val missense AEBP2 1 40842 2.44846E-5 20421 0 NA
12-19593215-C-T p.Gly194Gly synonymous AEBP2 2 40350 4.95663E-5 20175 0 1.13304E-5
12-19593232-C-G p.Ser200Cys missense AEBP2 1 40386 2.47611E-5 20193 0 1.06644E-5
12-19593233-C-T p.Ser200Ser synonymous AEBP2 2 40362 4.95516E-5 20181 0 3.38885E-5
12-19593239-C-T p.Gly202Gly synonymous AEBP2 22 40448 5.43908E-4 20224 0 2.54135E-4
12-19593243-C-T p.Arg204Trp missense AEBP2 1 40430 2.47341E-5 20215 0 NA
12-19593279-C-T p.Leu216Leu synonymous AEBP2 1 40374 2.47684E-5 20187 0 NA
12-19593293-C-T p.Asp220Asp synonymous AEBP2 1 40036 2.49775E-5 20018 0 5.21126E-5
12-19593312-C-G c.671+8C>G splice_region AEBP2 1 40146 2.49091E-5 20073 0 1.09625E-5
12-19593646-C-CA p.Arg4fs frameshift AEBP2 3 33038 9.08045E-5 16519 0 2.86624E-4
12-19593647-AC-A p.Arg4fs frameshift AEBP2 1 33050 3.02572E-5 16525 0 NA
12-19593648-C-T p.Arg4Cys missense AEBP2 1 33054 3.02535E-5 16527 0 6.36902E-5
12-19593652-G-A p.Arg5Gln missense AEBP2 1 33088 3.02224E-5 16544 0 7.81006E-6
12-19615454-A-G p.Thr228Ala missense AEBP2 1 82652 1.20989E-5 41326 0 NA
12-19615476-C-G p.Thr235Arg missense AEBP2 1 82716 1.20896E-5 41358 0 NA
12-19615490-C-T p.Arg240Cys missense AEBP2 1 82724 1.20884E-5 41362 0 NA
12-19615505-A-G p.Met245Val missense AEBP2 2 82752 2.41686E-5 41376 0 NA
12-19615512-A-G p.Asn247Ser missense AEBP2 2 82758 2.41668E-5 41379 0 NA
12-19615527-C-G p.Thr252Ser missense AEBP2 1 82760 1.20831E-5 41380 0 3.18471E-5
12-19615546-T-C p.Asn258Asn synonymous AEBP2 1 82720 1.2089E-5 41360 0 NA
12-19615587-T-A p.Phe272Tyr missense AEBP2 1 82678 1.20951E-5 41339 0 NA
12-19615624-C-T p.Ser284Ser synonymous AEBP2 1 82640 1.21007E-5 41320 0 NA
12-19615644-G-A p.Arg291Gln missense AEBP2 2 82172 2.43392E-5 41086 0 0.00100705
12-19615650-G-T p.Gly293Val missense+splice_region AEBP2 1 81782 1.22276E-5 40891 0 4.11743E-6
12-19626196-A-G p.Leu298Leu synonymous AEBP2 1 77932 1.28317E-5 38966 0 3.18674E-5
12-19626205-T-C p.Gly301Gly synonymous AEBP2 1799 78662 0.02287 39331 101 0.0625188
12-19626226-A-G p.Pro308Pro synonymous AEBP2 2 80168 2.49476E-5 40084 0 6.37389E-5
12-19626229-T-C p.Ser309Ser synonymous AEBP2 1 80180 1.24719E-5 40090 0 NA
12-19626238-A-G p.Gln312Gln synonymous AEBP2 1 80180 1.24719E-5 40090 0 4.91884E-6
12-19626265-A-G p.Thr321Thr synonymous AEBP2 1 79036 1.26525E-5 39518 0 NA
12-19626286-C-A p.Phe328Leu missense AEBP2 1 76266 1.3112E-5 38133 0 NA
12-19626289-G-GTGTGTTGTTGGTGGCTGCAATGCCAGCTTTGCTTCTCAGGGAGGGCTAGCTC c.987_987+1insTGTGTTGTTGGTGGCTGCAATGCCAGCTTTGCTTCTCAGGGAGGGCTAGCTC splice_donor AEBP2 2 76068 2.62923E-5 38034 1 NA
12-19626290-G-A c.987+1G>A splice_donor AEBP2 1 75960 1.31648E-5 37980 0 NA
12-19626296-A-T c.987+7A>T splice_region AEBP2 1 75330 1.32749E-5 37665 0 NA
12-19646742-T-C p.Val332Val synonymous AEBP2 1 82482 1.21239E-5 41241 0 1.70978E-5
12-19646745-T-G p.Gly333Gly synonymous AEBP2 4 82516 4.84754E-5 41258 0 0.00100705
12-19646748-C-T p.Gly334Gly synonymous AEBP2 1 82544 1.21148E-5 41272 0 NA
12-19646778-G-T p.Gly344Gly synonymous AEBP2 1 82610 1.21051E-5 41305 0 NA
12-19646779-C-T p.Leu345Leu synonymous AEBP2 1 82618 1.21039E-5 41309 0 3.18512E-5
12-19646781-A-G p.Leu345Leu synonymous AEBP2 1 82622 1.21033E-5 41311 0 NA
12-19646793-A-G p.Val349Val synonymous AEBP2 2 82642 2.42008E-5 41321 0 4.01513E-6
12-19646799-A-G p.Thr351Thr synonymous AEBP2 1 82638 1.2101E-5 41319 0 NA
12-19646821-T-C p.Ser359Pro missense AEBP2 1 82604 1.2106E-5 41302 0 8.57559E-6
12-19646877-G-A p.Met377Ile missense AEBP2 1 82500 1.21212E-5 41250 0 1.0001E-5
12-19646877-G-T p.Met377Ile missense AEBP2 2 82500 2.42424E-5 41250 0 2.0002E-5
12-19646897-A-G p.Lys384Arg missense AEBP2 1 82412 1.21342E-5 41206 0 NA
12-19646911-C-T p.Arg389Cys missense AEBP2 2 82290 2.43043E-5 41145 0 NA
12-19646920-C-T p.Pro392Ser missense+splice_region AEBP2 1 82204 1.21649E-5 41102 0 2.38362E-5
12-19653035-G-A p.Arg393Arg synonymous AEBP2 1 82450 1.21286E-5 41225 0 1.68687E-5
12-19653037-C-A p.Pro394Gln missense AEBP2 1 82448 1.21289E-5 41224 0 NA
12-19653050-C-T p.Phe398Phe synonymous AEBP2 3 82462 3.63804E-5 41231 0 5.53587E-5
12-19653051-G-A p.Asp399Asn missense AEBP2 2 82476 2.42495E-5 41238 0 NA
12-19653062-A-G p.Thr402Thr synonymous AEBP2 1700 82464 0.0206151 41232 31 0.0275
12-19653062-A-C p.Thr402Thr synonymous AEBP2 1 82492 1.21224E-5 41246 0 1.35962E-5
12-19653071-G-A p.Ala405Ala synonymous AEBP2 21 82498 2.54552E-4 41249 0 2.66816E-4
12-19653112-T-C p.Ile419Thr missense AEBP2 2 82386 2.4276E-5 41193 0 3.18512E-5
12-19653138-G-A p.Val428Ile missense AEBP2 2 82170 2.43398E-5 41085 0 5.43189E-6
12-19653141-G-A p.Val429Ile missense AEBP2 1 82090 1.21818E-5 41045 0 NA
12-19653146-T-C p.Phe430Phe synonymous AEBP2 2 82036 2.43795E-5 41018 0 3.18492E-5
12-19653159-A-ATAGCTAAGAGAAAAGAAGATTCTGGGAAGATCAAACTTTTGCTTCATT c.1299+4_1299+5insTAGCTAAGAGAAAAGAAGATTCTGGGAAGATCAAACTTTTGCTTCATT splice_region AEBP2 4 81722 4.89464E-5 40861 2 NA
12-19653159-AG-A c.1299+5delG splice_region AEBP2 2 81722 2.44732E-5 40861 1 NA
12-19653159-A-ATAGCTAAGAGAAAAGAAGATTCTGGGAAGATCAAACTTTTGCTTCATTGGAT c.1299+4_1299+5insTAGCTAAGAGAAAAGAAGATTCTGGGAAGATCAAACTTTTGCTTCATTGGAT splice_region AEBP2 1 81722 1.22366E-5 40861 0 NA
12-19653162-A-AT c.1299+7_1299+8insT splice_region AEBP2 2 81106 2.46591E-5 40553 0 3.21668E-5
12-19665399-T-TTCTGCCTGATGTGTGGGTGAATGAAAGTGAACGACATCA c.1367_1367+1insTCTGCCTGATGTGTGGGTGAATGAAAGTGAACGACATCA splice_donor AEBP2 1 81420 1.2282E-5 40710 0 NA
12-19665403-A-C c.1367+4A>C splice_region AEBP2 3 81340 3.68822E-5 40670 1 NA
12-19667598-T-C c.1368-7T>C splice_region AEBP2 1 81874 1.22139E-5 40937 0 4.55676E-6
12-19667635-A-G p.Glu466Glu synonymous AEBP2 1 82204 1.21649E-5 41102 0 NA
12-19667641-T-C p.His468His synonymous AEBP2 1 82234 1.21604E-5 41117 0 9.55475E-5
12-19667656-A-G p.Lys473Lys synonymous AEBP2 1 82320 1.21477E-5 41160 0 1.07562E-5
12-19667692-C-T p.Ala485Ala synonymous AEBP2 2 82384 2.42766E-5 41192 0 0.004375
12-19667707-A-C p.Pro490Pro synonymous AEBP2 1 82262 1.21563E-5 41131 0 NA
12-19667718-G-GAACAATGCCGCAGAAGAGGTTGAAGAGATGGA c.1481_1481+1insAACAATGCCGCAGAAGAGGTTGAAGAGATGGA splice_donor AEBP2 2 81944 2.44069E-5 40972 1 NA
12-19671030-G-A p.Pro497Pro synonymous AEBP2 2 82086 2.43647E-5 41043 0 8.55147E-6
12-19671636-G-A p.Leu296Leu synonymous AEBP2 1 79426 1.25903E-5 39713 0 6.6577E-6
12-19673158-A-T c.*2107A>T splice_region AEBP2 5 35274 1.41747E-4 17637 0 NA
12-19705808-C-T p.Ala108Ala synonymous AEBP2 5 5644 8.85897E-4 2822 0 5.9475E-4
12-19705842-C-T p.Pro120Ser missense AEBP2 1 5378 1.85943E-4 2689 0 3.81767E-5
12-19705843-C-T p.Pro120Leu missense AEBP2 1 5346 1.87056E-4 2673 0 0.00228833
12-19705853-G-A p.Pro123Pro synonymous AEBP2 1066 5028 0.212013 2514 134 0.310195
12-19705873-T-C p.Phe130Ser missense AEBP2 1 4950 2.0202E-4 2475 0 7.77726E-5
12-19705894-G-A p.Ser137Asn missense AEBP2 21 4540 0.00462555 2270 0 0.00302644
12-19705901-G-A p.Trp139* stop_gained AEBP2 1 4064 2.46063E-4 2032 0 NA
12-19705904-T-C p.Asp140Asp synonymous AEBP2 1 4128 2.42248E-4 2064 0 NA
12-19873562-GC-G c.339-4delC splice_region AEBP2 1 8088 1.2364E-4 4044 0 3.19428E-5
12-19873570-A-C p.Ser114Ser synonymous AEBP2 4 8110 4.93218E-4 4055 0 6.24873E-5
12-19873575-A-T p.Lys116Met missense AEBP2 448 8104 0.0552813 4052 12 0.061875
12-19873577-C-G p.Pro117Ala missense AEBP2 305 8110 0.0376079 4055 7 0.0382655