Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
4-89011422-A-G c.*1964T>C splice_region ABCG2 7 2910 0.0024055 1455 0 0.0111389
4-89013388-A-G p.Ter656Glnext*? stop_lost ABCG2 1 83226 1.20155E-5 41613 0 1.62748E-5
4-89013393-T-C p.Tyr654Cys missense ABCG2 1 83230 1.20149E-5 41615 0 3.18532E-5
4-89013393-TA-T p.Tyr654fs frameshift ABCG2 1 83230 1.20149E-5 41615 0 9.04895E-6
4-89013401-A-AAGAAATAACAATTTCAGGTAGGC p.Lys652fs frameshift ABCG2 4 83236 4.80561E-5 41618 0 1.767E-5
4-89013427-T-C p.Ile643Val missense ABCG2 3 83220 3.6049E-5 41610 0 3.18492E-5
4-89013444-A-G p.Ile637Thr missense ABCG2 1 83198 1.20195E-5 41599 0 NA
4-89013445-T-G p.Ile637Leu missense ABCG2 1 83190 1.20207E-5 41595 0 3.99699E-6
4-89013446-C-T p.Met636Ile missense ABCG2 2 83204 2.40373E-5 41602 0 3.18654E-5
4-89013460-C-T p.Ala632Thr missense ABCG2 2 83216 2.40338E-5 41608 0 6.25E-4
4-89013463-C-A p.Val631Leu missense ABCG2 1 83168 1.20239E-5 41584 0 NA
4-89013463-C-T p.Val631Met missense ABCG2 4 83168 4.80954E-5 41584 0 4.94666E-5
4-89013464-G-A p.His630His synonymous ABCG2 1 83162 1.20247E-5 41581 0 3.18492E-5
4-89013484-A-G p.Trp624Arg missense ABCG2 1 83050 1.20409E-5 41525 0 NA
4-89013487-G-C p.Pro623Ala missense ABCG2 3 83012 3.61394E-5 41506 0 5.05051E-4
4-89013496-C-T p.Asp620Asn missense ABCG2 358 82908 0.00431804 41454 1 0.0175
4-89013501-C-T p.Gly618Asp missense ABCG2 1 82740 1.20861E-5 41370 0 8.10307E-6
4-89013502-C-T p.Gly618Ser missense ABCG2 4 82720 4.83559E-5 41360 0 NA
4-89013512-C-T p.Trp611* stop_gained ABCG2 1 82394 1.21368E-5 41197 0 4.08023E-6
4-89013512-CA-C p.Leu614fs frameshift ABCG2 1 82394 1.21368E-5 41197 0 NA
4-89013518-T-C p.Asn609Ser missense ABCG2 1 82194 1.21663E-5 41097 0 NA
4-89013523-C-T p.Glu611Lys missense ABCG2 1 81902 1.22097E-5 40951 0 NA
4-89013524-G-A p.Ala607Val missense ABCG2 5 81754 6.11591E-5 40877 0 9.5584E-5
4-89013526-C-T p.Gly610Ser missense ABCG2 1 81702 1.22396E-5 40851 0 NA
4-89015726-T-TA c.1820+2_1820+3insT splice_donor ABCG2 1 83190 1.20207E-5 41595 0 NA
4-89015728-C-T c.1820+1G>A splice_donor ABCG2 6 83192 7.21223E-5 41596 0 6.25E-4
4-89015729-G-A p.Thr607Ile missense+splice_region ABCG2 1 83202 1.20189E-5 41601 0 4.37686E-5
4-89015735-T-C p.Tyr605Cys missense ABCG2 1 83226 1.20155E-5 41613 0 1.98919E-5
4-89015744-G-T p.Pro602His missense ABCG2 1 83246 1.20126E-5 41623 0 NA
4-89015755-T-C p.Gln595Arg missense ABCG2 1 83274 1.20085E-5 41637 0 3.97766E-6
4-89015758-T-G p.Gln594Pro missense ABCG2 1 83284 1.20071E-5 41642 0 1.98883E-5
4-89015760-C-T p.Ala597Thr missense ABCG2 3 83272 3.60265E-5 41636 0 NA
4-89015762-T-C p.Asn596Ser missense ABCG2 21 83266 2.52204E-4 41633 0 0.00151057
4-89015765-A-C p.Leu595Arg missense ABCG2 1 83266 1.20097E-5 41633 0 3.18512E-5
4-89015766-G-A p.Leu595Phe missense ABCG2 1 83262 1.20103E-5 41631 0 3.1841E-5
4-89015772-G-A p.Pro593Ser missense ABCG2 1 83266 1.20097E-5 41633 0 NA
4-89015774-CA-C p.Cys592fs frameshift ABCG2 1 83260 1.20106E-5 41630 0 NA
4-89015781-T-A p.Asn590Tyr missense ABCG2 12 83264 1.4412E-4 41632 0 5.03525E-4
4-89015799-T-C p.Asn584Asp missense ABCG2 2 83218 2.40333E-5 41609 0 NA
4-89015801-T-C p.His583Arg missense ABCG2 5 83220 6.00817E-5 41610 0 0.00125
4-89015814-A-G c.1738-3T>C splice_region ABCG2 1 83180 1.20221E-5 41590 0 1.64962E-5
4-89015815-T-C c.1738-4A>G splice_region ABCG2 5 83182 6.01092E-5 41591 0 6.25E-4
4-89016669-T-C c.1737+3A>G splice_region ABCG2 3 83050 3.61228E-5 41525 0 3.18451E-5
4-89016671-C-A c.1737+1G>T splice_donor ABCG2 1 83070 1.2038E-5 41535 0 3.98035E-6
4-89016672-C-T p.Arg576Gln missense+splice_region ABCG2 2 83056 2.40801E-5 41528 0 6.25E-4
4-89016673-G-A p.Thr579Met missense+splice_region ABCG2 3 83072 3.61133E-5 41536 0 0.00100705
4-89016681-A-C p.Tyr576* stop_gained ABCG2 1 83138 1.20282E-5 41569 0 8.25042E-6
4-89016685-C-A p.Arg575Leu missense ABCG2 21 83132 2.5261E-4 41566 2 7.96083E-6
4-89016685-C-T p.Arg575Gln missense ABCG2 4 83134 4.81151E-5 41567 0 1.65016E-5
4-89016686-G-A p.Arg575* stop_gained ABCG2 2 83144 2.40547E-5 41572 0 7.96007E-5
4-89016691-A-T p.Ile573Asn missense ABCG2 5 83148 6.01337E-5 41574 0 5.96953E-5
4-89016695-T-G p.Ser572Arg missense ABCG2 10 83150 1.20265E-4 41575 0 1.11431E-4
4-89016699-G-C p.Tyr570* stop_gained ABCG2 2 83154 2.40518E-5 41577 0 NA
4-89016707-G-A p.Leu568Phe missense ABCG2 2 83166 2.40483E-5 41583 0 3.9795E-6
4-89016711-T-C p.His563Arg missense ABCG2 1 83162 1.20247E-5 41581 0 NA
4-89016727-A-G p.Ile561Thr missense ABCG2 2 83178 2.40448E-5 41589 0 3.1841E-5
4-89016737-G-C p.Leu558Val missense ABCG2 1 83190 1.20207E-5 41595 0 NA
4-89016739-T-C p.Asn557Ser missense ABCG2 2 83180 2.40442E-5 41590 0 3.1839E-5
4-89016741-G-T p.Ser553* stop_gained ABCG2 1 83176 1.20227E-5 41588 0 NA
4-89016744-C-A p.Leu555Phe missense ABCG2 3 83164 3.60733E-5 41582 0 8.25887E-6
4-89016751-C-A p.Val550Phe missense+splice_region ABCG2 1 83152 1.20262E-5 41576 0 NA
4-89016753-T-C c.1648-2A>G splice_acceptor ABCG2 3 83142 3.60828E-5 41571 0 8.26692E-6
4-89016754-G-T p.Ser552* stop_gained ABCG2 1 83140 1.20279E-5 41570 0 NA
4-89016754-G-A p.Ser552Leu missense ABCG2 1 83140 1.20279E-5 41570 0 NA
4-89018600-C-T c.1647+5G>A splice_region ABCG2 1 82806 1.20764E-5 41403 0 NA
4-89018605-C-T p.Met549Ile missense+splice_region ABCG2 1 82846 1.20706E-5 41423 0 NA
4-89018607-T-A p.Met549Leu missense+splice_region ABCG2 1 82868 1.20674E-5 41434 0 3.98842E-6
4-89018625-T-C p.Ile543Val missense ABCG2 1 83034 1.20433E-5 41517 0 8.24974E-6
4-89018628-T-C p.Thr542Ala missense ABCG2 25 83032 3.01089E-4 41516 0 0.00114679
4-89018631-TGAGAAGTGTTGCTACA-T p.Val536fs frameshift ABCG2 1 83060 1.20395E-5 41530 0 NA
4-89018638-T-C p.Thr538Thr synonymous ABCG2 2 83078 2.40738E-5 41539 0 7.56279E-5
4-89018658-T-A p.Ser532Cys missense ABCG2 2 83086 2.40714E-5 41543 0 8.24362E-6
4-89018661-G-A p.Gln531* stop_gained ABCG2 1 83098 1.2034E-5 41549 0 NA
4-89018665-T-A p.Ala529Ala synonymous ABCG2 1 83086 1.20357E-5 41543 0 8.24334E-6
4-89018670-C-T p.Ala528Thr missense ABCG2 159 83078 0.00191386 41539 2 0.00152433
4-89018675-G-A p.Ala526Val missense ABCG2 1 83066 1.20386E-5 41533 0 NA
4-89018676-C-T p.Ala526Thr missense ABCG2 1 83054 1.20404E-5 41527 0 3.98016E-6
4-89018685-T-A p.Met523Leu missense ABCG2 2 83028 2.40883E-5 41514 0 3.18451E-5
4-89018704-C-T p.Val516Val synonymous ABCG2 1 82912 1.2061E-5 41456 0 3.1839E-5
4-89018708-A-G p.Met515Thr missense ABCG2 1 82884 1.20651E-5 41442 0 NA
4-89018709-T-C p.Met515Val missense ABCG2 1 82884 1.20651E-5 41442 0 8.25341E-6
4-89018715-G-C p.Leu513Val missense ABCG2 2 82856 2.41383E-5 41428 0 4.95336E-5
4-89018717-G-T p.Thr512Asn missense ABCG2 1 82816 1.2075E-5 41408 0 3.98295E-6
4-89018717-G-C p.Thr512Ser missense ABCG2 2 82816 2.41499E-5 41408 0 1.99148E-5
4-89018723-AT-A p.Met510fs frameshift ABCG2 1 82792 1.20785E-5 41396 0 3.1841E-5
4-89018727-T-G p.Met509Leu missense ABCG2 2 82754 2.4168E-5 41377 0 6.36943E-5
4-89018731-G-A p.Phe507Phe synonymous ABCG2 3 82684 3.62827E-5 41342 0 8.2687E-5
4-89018738-G-T p.Ala505Asp missense ABCG2 1 82606 1.21057E-5 41303 0 NA
4-89018740-A-G p.Asp504Asp synonymous ABCG2 2 82592 2.42154E-5 41296 0 2.48303E-5
4-89018762-TAGTC-T c.1493-7_1493-4delGACT splice_region ABCG2 35 82282 4.25366E-4 41141 0 5.09619E-4
4-89020470-A-G c.1492+6T>C splice_region ABCG2 3 82408 3.64042E-5 41204 0 1.59266E-4
4-89020471-C-T c.1492+5G>A splice_region ABCG2 2 82412 2.42683E-5 41206 0 3.18552E-5
4-89020480-C-T p.Met496Ile missense ABCG2 4 82516 4.84754E-5 41258 0 8.59136E-6
4-89020486-G-A p.Tyr494Tyr synonymous ABCG2 2 82666 2.41937E-5 41333 0 NA
4-89020488-A-C p.Tyr494Asp missense ABCG2 2 82762 2.41657E-5 41381 0 8.24729E-6
4-89020490-A-G p.Val493Ala missense ABCG2 1 82786 1.20793E-5 41393 0 1.27356E-4
4-89020503-A-G p.Phe489Leu missense ABCG2 17 82964 2.04908E-4 41482 0 9.80376E-4
4-89020515-G-T p.Pro485Thr missense ABCG2 2 83072 2.40755E-5 41536 0 NA
4-89020522-C-A p.Arg482Ser missense ABCG2 1 83124 1.20302E-5 41562 0 NA
4-89020529-G-A p.Pro480Leu missense ABCG2 14 83140 1.68391E-4 41570 0 1.91156E-4
4-89020539-C-A p.Asp477Tyr missense ABCG2 1 83168 1.20239E-5 41584 0 NA
4-89020542-A-G p.Ser476Pro missense ABCG2 5 83176 6.01135E-5 41588 0 7.99846E-6
4-89020571-ACT-A p.Arg465fs frameshift ABCG2 2 83134 2.40575E-5 41567 0 1.21584E-5
4-89020572-C-T p.Val466Met missense ABCG2 1 83140 1.20279E-5 41570 0 NA
4-89020583-C-A p.Gly462Val missense ABCG2 1 83112 1.2032E-5 41556 0 1.01652E-4
4-89020584-C-T p.Gly462Arg missense ABCG2 2 83100 2.40674E-5 41550 0 3.18532E-5
4-89020585-G-A p.Ser461Ser synonymous ABCG2 2 83094 2.40691E-5 41547 0 9.23105E-5
4-89020598-T-C p.His457Arg missense+splice_region ABCG2 1 83084 1.2036E-5 41542 0 8.58472E-6
4-89022383-T-C p.Ile456Val missense+splice_region ABCG2 4 83096 4.81371E-5 41548 0 8.25151E-6
4-89022383-T-G p.Ile456Leu missense+splice_region ABCG2 1 83096 1.20343E-5 41548 0 NA
4-89022390-C-T p.Lys453Lys synonymous ABCG2 1 83116 1.20314E-5 41558 0 1.19366E-5
4-89022393-C-T p.Lys452Lys synonymous ABCG2 5 83130 6.01468E-5 41565 0 6.37064E-5
4-89022402-C-T p.Val449Val synonymous ABCG2 1 83182 1.20218E-5 41591 0 6.36902E-5
4-89022403-A-G p.Val449Ala missense ABCG2 20 83182 2.40437E-4 41591 0 8.24661E-6
4-89022416-C-A p.Val445Leu missense ABCG2 1 83206 1.20184E-5 41603 0 1.64921E-5
4-89022416-C-T p.Val445Met missense ABCG2 1 83206 1.20184E-5 41603 0 1.98916E-5
4-89022436-C-T p.Cys438Tyr missense ABCG2 1 83268 1.20094E-5 41634 0 3.97785E-6
4-89022437-A-G p.Cys438Arg missense ABCG2 3 83260 3.60317E-5 41630 0 1.98039E-4
4-89022439-TG-T p.Gln437fs frameshift ABCG2 1 83266 1.20097E-5 41633 0 3.97795E-6
4-89022444-G-A p.Thr435Thr synonymous ABCG2 1 83268 1.20094E-5 41634 0 7.95627E-6
4-89022447-C-T p.Thr434Thr synonymous ABCG2 2 83260 2.40211E-5 41630 0 1.65136E-5
4-89022447-C-A p.Thr434Thr synonymous ABCG2 2 83260 2.40211E-5 41630 0 1.65136E-5
4-89022455-A-G p.Phe432Leu missense ABCG2 3 83266 3.60291E-5 41633 0 3.18431E-5
4-89022458-A-G p.Phe431Leu missense ABCG2 1 83260 1.20106E-5 41630 0 NA
4-89022461-G-T p.Leu430Ile missense ABCG2 1 83256 1.20111E-5 41628 0 NA
4-89022465-C-T p.Gly428Gly synonymous ABCG2 1 83250 1.2012E-5 41625 0 3.97909E-6
4-89022474-G-T c.1278-3C>A splice_region ABCG2 1 83238 1.20137E-5 41619 0 NA
4-89022478-T-C c.1278-7A>G splice_region ABCG2 102 83224 0.00122561 41612 0 9.1161E-4
4-89028338-G-A p.Asn425Asn splice_region+synonymous ABCG2 1 83052 1.20406E-5 41526 0 8.72296E-6
4-89028351-G-C p.Thr421Ser missense ABCG2 1 83102 1.20334E-5 41551 0 5.03525E-4
4-89028352-T-C p.Thr421Ala missense ABCG2 14 83104 1.68464E-4 41552 0 8.51339E-5
4-89028359-A-AT p.Asn418fs frameshift ABCG2 1 83090 1.20351E-5 41545 0 8.46984E-6
4-89028365-T-C p.Leu416Leu synonymous ABCG2 1 83088 1.20354E-5 41544 0 3.98995E-6
4-89028403-C-T p.Val404Ile missense ABCG2 1 83004 1.20476E-5 41502 0 4.33208E-5
4-89028404-G-A p.Val403Val synonymous ABCG2 1 83010 1.20467E-5 41505 0 9.55779E-5
4-89034456-T-C p.Gln398Arg missense+splice_region ABCG2 1 82996 1.20488E-5 41498 0 3.18512E-5
4-89034461-T-A p.Ile396Ile synonymous ABCG2 1 83046 1.20415E-5 41523 0 3.18451E-5
4-89034471-T-C p.Gln393Arg missense ABCG2 6 83084 7.22161E-5 41542 0 2.7868E-5
4-89034473-G-A p.Pro392Pro synonymous ABCG2 1 83092 1.20349E-5 41546 0 NA
4-89034482-C-G p.Leu389Leu synonymous ABCG2 1 83116 1.20314E-5 41558 0 1.59194E-5
4-89034485-C-A p.Leu388Phe missense ABCG2 3 83128 3.60889E-5 41564 0 5.03525E-4
4-89034486-A-C p.Leu388Trp missense ABCG2 1 83140 1.20279E-5 41570 0 7.95931E-6
4-89034489-T-G p.Asn387Thr missense ABCG2 1 83158 1.20253E-5 41579 0 7.95919E-6
4-89034489-T-C p.Asn387Ser missense ABCG2 1 83158 1.20253E-5 41579 0 NA
4-89034501-C-T p.Arg383His missense ABCG2 1 83188 1.2021E-5 41594 0 6.59011E-5
4-89034502-G-A p.Arg383Cys missense ABCG2 8 83178 9.61793E-5 41589 0 0.00100705
4-89034511-C-T p.Val380Ile missense ABCG2 2 83202 2.40379E-5 41601 0 NA
4-89034515-T-A p.Arg378Ser missense ABCG2 1 83198 1.20195E-5 41599 0 NA
4-89034525-T-C p.His375Arg missense ABCG2 1 83212 1.20175E-5 41606 0 6.58957E-5
4-89034526-G-A p.His375Tyr missense ABCG2 2 83212 2.4035E-5 41606 0 8.23669E-6
4-89034528-C-T p.Cys374Tyr missense ABCG2 1 83208 1.20181E-5 41604 0 NA
4-89034531-A-C p.Phe373Cys missense ABCG2 2 83208 2.40361E-5 41604 0 1.98902E-5
4-89034534-G-T p.Ser372Tyr missense ABCG2 6 83206 7.21102E-5 41603 0 3.18451E-5
4-89034534-G-A p.Ser372Phe missense ABCG2 1 83206 1.20184E-5 41603 0 3.18451E-5
4-89034538-T-C p.Thr371Ala missense ABCG2 2 83196 2.40396E-5 41598 0 NA
4-89034548-G-A p.Ile367Ile synonymous ABCG2 1 83198 1.20195E-5 41599 0 3.97836E-6
4-89034551-C-T p.Glu366Glu synonymous ABCG2 490 83190 0.00589013 41595 17 0.0204844
4-89034567-ATCT-A p.Lys360del disruptive_inframe_deletion ABCG2 20 83108 2.40651E-4 41554 0 0.00503525
4-89034573-T-C p.Lys359Arg missense ABCG2 3 83150 3.60794E-5 41575 0 3.18552E-5
4-89034581-C-T p.Glu356Glu synonymous ABCG2 1 83124 1.20302E-5 41562 0 NA
4-89034584-AC-A p.Gly355fs frameshift ABCG2 1 83110 1.20322E-5 41555 0 3.18878E-5
4-89034587-C-T p.Gly354Gly synonymous ABCG2 3 83098 3.6102E-5 41549 0 7.9583E-6
4-89034589-C-T p.Gly354Arg missense ABCG2 235 83096 0.00282805 41548 1 0.00305869
4-89034636-T-C p.Asn338Ser missense ABCG2 1 83046 1.20415E-5 41523 0 6.37552E-5
4-89034645-A-G p.Ile335Thr missense ABCG2 1 83076 1.20372E-5 41538 0 NA
4-89034650-C-T p.Ala333Ala synonymous ABCG2 1 83060 1.20395E-5 41530 0 1.99008E-5
4-89034651-G-A p.Ala333Val missense ABCG2 4 83056 4.81603E-5 41528 0 1.27486E-4
4-89034653-T-C p.Leu332Leu synonymous ABCG2 1 83078 1.20369E-5 41539 0 3.18492E-5
4-89034657-T-A p.Lys331Ile missense ABCG2 1 83086 1.20357E-5 41543 0 8.24212E-6
4-89034670-G-C p.Pro327Ala missense ABCG2 1 83074 1.20375E-5 41537 0 3.18512E-5
4-89034693-A-G p.Ile319Thr missense ABCG2 1 83100 1.20337E-5 41550 0 NA
4-89034694-T-TAGCTCA p.Ile318_Ile319insTerAla stop_gained ABCG2 1 83108 1.20325E-5 41554 0 NA
4-89034694-T-C p.Ile319Val missense ABCG2 2 83108 2.40651E-5 41554 0 NA
4-89034696-A-G p.Ile318Thr missense ABCG2 1 83102 1.20334E-5 41551 0 NA
4-89034697-T-C p.Ile318Val missense ABCG2 1 83110 1.20322E-5 41555 0 8.25873E-6
4-89034705-G-A p.Ala315Val missense+splice_region ABCG2 1 83076 1.20372E-5 41538 0 NA
4-89034713-A-G c.944-8T>C splice_region ABCG2 1 83070 1.2038E-5 41535 0 NA
4-89036101-T-C c.943+8A>G splice_region ABCG2 3 82408 3.64042E-5 41204 0 4.99426E-5
4-89036102-CAT-C c.943+5_943+6delAT splice_region ABCG2 1 82430 1.21315E-5 41215 0 3.18878E-5
4-89036106-T-C c.943+3A>G splice_region ABCG2 1 82486 1.21233E-5 41243 0 NA
4-89036116-G-A p.Asp312Asp synonymous ABCG2 16 82596 1.93714E-4 41298 1 1.40659E-4
4-89036117-T-C p.Asp312Gly missense ABCG2 1 82588 1.21083E-5 41294 0 2.79696E-5
4-89036130-T-G p.Asn308His missense ABCG2 1 82674 1.20957E-5 41337 0 8.25723E-6
4-89036136-C-A p.Ala306Ser missense ABCG2 1 82694 1.20928E-5 41347 0 NA
4-89036148-A-G p.Ser302Pro missense ABCG2 2 82704 2.41826E-5 41352 0 3.9854E-6
4-89036149-A-G p.Asp301Asp synonymous ABCG2 1 82716 1.20896E-5 41358 0 8.25219E-5
4-89036161-G-C p.Ile297Met missense ABCG2 2 82734 2.41739E-5 41367 0 2.47562E-5
4-89036166-C-G p.Asp296His missense ABCG2 7 82730 8.46126E-5 41365 0 3.30104E-5
4-89036167-CAAG-C p.Phe294del disruptive_inframe_deletion ABCG2 1 82750 1.20846E-5 41375 0 2.78851E-5
4-89036168-A-G p.Leu295Ser missense ABCG2 1 82762 1.20828E-5 41381 0 3.98327E-6
4-89036171-A-G p.Phe294Ser missense ABCG2 2 82746 2.41704E-5 41373 0 8.25409E-6
4-89036183-G-A p.Pro290Leu missense ABCG2 3 82722 3.6266E-5 41361 0 8.7641E-5
4-89036194-G-A p.Ala286Ala synonymous ABCG2 3 82622 3.63099E-5 41311 1 NA
4-89036199-C-T p.Glu285Lys missense ABCG2 1 82582 1.21092E-5 41291 0 NA
4-89036213-A-G c.842-3T>C splice_region ABCG2 2 82368 2.42813E-5 41184 0 8.28967E-6
4-89039256-C-T c.841+5G>A splice_region ABCG2 18 83018 2.1682E-4 41509 0 1.37086E-4
4-89039258-T-C c.841+3A>G splice_region ABCG2 7 83012 8.43252E-5 41506 0 6.25E-4
4-89039258-TA-T c.841+2delT splice_donor ABCG2 1 83012 1.20465E-5 41506 0 NA
4-89039275-T-A p.Tyr276Phe missense ABCG2 1 83042 1.20421E-5 41521 0 8.26706E-6
4-89039282-A-G p.Leu274Leu synonymous ABCG2 1 83056 1.20401E-5 41528 0 8.26064E-6
4-89039297-G-A p.Pro269Ser missense ABCG2 6 83030 7.2263E-5 41515 0 6.25E-4
4-89039300-C-T p.Gly268Arg missense ABCG2 4 83040 4.81696E-5 41520 0 3.98279E-6
4-89039301-G-A p.His267His synonymous ABCG2 2 83050 2.40819E-5 41525 0 5.77491E-5
4-89039304-G-A p.Phe266Phe synonymous ABCG2 1 83050 1.20409E-5 41525 0 1.64962E-5
4-89039307-C-T p.Met265Ile missense ABCG2 1 83052 1.20406E-5 41526 0 3.98213E-6
4-89039309-TAA-T p.Leu264fs frameshift ABCG2 8 83056 9.63206E-5 41528 0 0.00151057
4-89039311-A-C p.Leu264Arg missense ABCG2 1 83064 1.20389E-5 41532 0 8.36174E-5
4-89039332-G-A p.Thr257Ile missense ABCG2 3 83096 3.61028E-5 41548 0 6.59533E-5
4-89039332-G-T p.Thr257Asn missense ABCG2 1 83096 1.20343E-5 41548 0 NA
4-89039333-T-G p.Thr257Pro missense ABCG2 1 83096 1.20343E-5 41548 0 3.98111E-6
4-89039334-G-A p.Leu256Leu synonymous ABCG2 1 83104 1.20331E-5 41552 0 NA
4-89039336-G-A p.Leu256Phe missense ABCG2 3 83104 3.60993E-5 41552 0 6.25E-4
4-89039340-A-G p.Asp254Asp synonymous ABCG2 2 83102 2.40668E-5 41551 0 8.24362E-6
4-89039347-A-C p.Leu252Trp missense ABCG2 1 83132 1.20291E-5 41566 0 NA
4-89039359-G-C p.Ser248Cys missense ABCG2 2 83152 2.40523E-5 41576 0 1.64891E-5
4-89039365-C-T p.Arg246Gln missense ABCG2 2 83132 2.40581E-5 41566 0 1.64891E-5
4-89039366-G-A p.Arg246* stop_gained ABCG2 4 83138 4.81128E-5 41569 0 1.91058E-4
4-89039367-A-C p.Pro245Pro synonymous ABCG2 3 83138 3.60846E-5 41569 0 NA
4-89039372-G-A p.Gln244* stop_gained ABCG2 1 83152 1.20262E-5 41576 0 NA
4-89039374-T-C p.His243Arg missense ABCG2 1 83158 1.20253E-5 41579 0 1.19389E-5
4-89039390-T-C p.Ile238Val missense ABCG2 1 83176 1.20227E-5 41588 0 NA
4-89039391-T-G p.Thr237Thr synonymous ABCG2 2 83172 2.40466E-5 41586 0 3.30006E-5
4-89039396-G-A p.Arg236* stop_gained ABCG2 25 83160 3.00625E-4 41580 0 0.00100705
4-89039396-G-T p.Arg236Arg synonymous ABCG2 1 83160 1.2025E-5 41580 0 6.25E-4
4-89039401-T-C p.Gln234Arg missense ABCG2 1 83162 1.20247E-5 41581 0 4.38212E-5
4-89039411-T-G p.Met231Leu missense+splice_region ABCG2 1 83136 1.20285E-5 41568 0 8.27267E-6
4-89042785-A-G c.689+2T>C splice_donor ABCG2 1 82950 1.20555E-5 41475 0 4.0041E-6
4-89042803-G-T p.Leu225Ile missense ABCG2 3 83034 3.61298E-5 41517 0 6.78318E-5
4-89042805-A-T p.Val224Asp missense ABCG2 1 83046 1.20415E-5 41523 0 3.1837E-5
4-89042817-G-A p.Thr220Ile missense ABCG2 1 83082 1.20363E-5 41541 0 7.96369E-6
4-89042821-T-C p.Ser219Gly missense ABCG2 2 83080 2.40732E-5 41540 0 1.19438E-5
4-89042860-T-G p.Ile206Leu missense ABCG2 19 83150 2.28503E-4 41575 0 1.89738E-4
4-89042863-A-G p.Ser205Pro missense ABCG2 1 83160 1.2025E-5 41580 0 7.96096E-6
4-89042876-A-C p.Leu200Leu synonymous ABCG2 2 83168 2.40477E-5 41584 0 3.98073E-6
4-89042879-C-G p.Glu199Asp missense ABCG2 1 83160 1.2025E-5 41580 0 3.98099E-6
4-89042890-T-C p.Ile196Val missense ABCG2 2 83144 2.40547E-5 41572 0 3.1841E-5
4-89042897-C-A p.Arg193Ser missense ABCG2 1 83144 1.20273E-5 41572 0 3.98137E-6
4-89042912-T-G p.Gly188Gly synonymous ABCG2 2 83120 2.40616E-5 41560 0 3.98524E-6
4-89042917-A-G p.Ser187Pro missense ABCG2 2 83124 2.40604E-5 41562 0 8.24865E-6
4-89042925-C-T p.Arg184His missense ABCG2 9 83102 1.08301E-4 41551 0 1.56363E-4
4-89042926-G-A p.Arg184Cys missense ABCG2 4 83098 4.81359E-5 41549 0 3.21474E-5
4-89042938-T-C p.Thr180Ala missense ABCG2 1 83024 1.20447E-5 41512 0 NA
4-89042940-C-G p.Gly179Ala missense ABCG2 2 83018 2.40912E-5 41509 0 NA
4-89042942-A-G p.Val178Val splice_region+synonymous ABCG2 3 83016 3.61376E-5 41508 0 9.55718E-5
4-89042946-T-C c.532-2A>G splice_acceptor ABCG2 3 82980 3.61533E-5 41490 0 3.242E-4
4-89052214-T-C p.Lys177Arg missense+splice_region ABCG2 1 83084 1.2036E-5 41542 0 1.59308E-5
4-89052221-C-G p.Asp175His missense ABCG2 1 83094 1.20346E-5 41547 0 NA
4-89052224-C-T p.Ala174Thr missense ABCG2 1 83092 1.20349E-5 41546 0 NA
4-89052225-CACTTT-C p.Lys172fs frameshift ABCG2 1 83100 1.20337E-5 41550 0 NA
4-89052246-T-C p.Gln166Gln synonymous ABCG2 2 83144 2.40547E-5 41572 0 NA
4-89052257-T-C p.Arg163Gly missense ABCG2 1 83146 1.2027E-5 41573 0 NA
4-89052265-C-T p.Arg160Gln missense ABCG2 1 83150 1.20265E-5 41575 0 1.95008E-4
4-89052266-G-A p.Arg160Trp missense ABCG2 5 83160 6.01251E-5 41580 0 5.57196E-5
4-89052269-C-T p.Glu159Lys missense ABCG2 2 83170 2.40471E-5 41585 0 8.23764E-6
4-89052270-G-GT p.Asn158fs frameshift ABCG2 1 83158 1.20253E-5 41579 0 6.37836E-5
4-89052270-G-A p.Asn158Asn synonymous ABCG2 6 83158 7.21518E-5 41579 0 1.59459E-4
4-89052271-T-G p.Asn158Thr missense ABCG2 6 83166 7.21449E-5 41583 0 3.18756E-5
4-89052274-T-C p.Lys157Arg missense ABCG2 4 83184 4.80862E-5 41592 0 2.47125E-5
4-89052274-T-G p.Lys157Thr missense ABCG2 1 83184 1.20215E-5 41592 0 NA
4-89052286-G-A p.Thr153Met missense ABCG2 6 83146 7.21622E-5 41573 0 5.57245E-5
4-89052290-T-C p.Met152Val missense ABCG2 2 83144 2.40547E-5 41572 0 NA
4-89052293-T-G p.Thr151Pro missense ABCG2 8 83142 9.62209E-5 41571 0 7.96001E-6
4-89052295-G-C p.Thr150Arg missense ABCG2 1 83132 1.20291E-5 41566 0 2.78647E-5
4-89052299-C-G p.Ala149Pro missense ABCG2 1 83136 1.20285E-5 41568 0 6.59033E-5
4-89052303-C-T p.Arg147Arg synonymous ABCG2 1 83108 1.20325E-5 41554 0 0.00125
4-89052304-C-T p.Arg147Gln missense ABCG2 1 83108 1.20325E-5 41554 0 8.23805E-6
4-89052305-G-A p.Arg147Trp missense ABCG2 5 83106 6.01641E-5 41553 0 6.25E-4
4-89052315-T-G p.Ser143Ser synonymous ABCG2 1 83102 1.20334E-5 41551 0 NA
4-89052320-AC-A p.Gln141fs frameshift ABCG2 1 83086 1.20357E-5 41543 0 3.98111E-6
4-89052321-C-G p.Gln141His missense ABCG2 1 83084 1.2036E-5 41542 0 NA
4-89052323-G-T p.Gln141Lys missense ABCG2 8251 82934 0.0994888 41467 561 0.124655
4-89052334-C-G p.Arg137Thr missense ABCG2 2 83032 2.40871E-5 41516 0 3.18512E-5
4-89052338-C-T p.Val136Met missense ABCG2 1 82992 1.20494E-5 41496 0 8.24321E-6
4-89052339-C-T p.Thr135Thr synonymous ABCG2 9 82990 1.08447E-4 41495 0 6.37267E-5
4-89052340-G-A p.Thr135Met missense ABCG2 3 82980 3.61533E-5 41490 0 3.18674E-5
4-89052348-G-A p.Gly132Gly synonymous ABCG2 2 82928 2.41173E-5 41464 0 2.47455E-5
4-89052351-C-T p.Met131Ile missense ABCG2 1 82920 1.20598E-5 41460 0 3.18492E-5
4-89052351-C-A p.Met131Ile missense ABCG2 2 82920 2.41196E-5 41460 0 5.03525E-4
4-89052354-CACA-C p.Val130del disruptive_inframe_deletion ABCG2 1 82892 1.20639E-5 41446 0 3.18471E-5
4-89052360-A-AT p.Asp128fs frameshift ABCG2 1 82832 1.20726E-5 41416 0 NA
4-89052360-A-C p.Asp128Glu missense ABCG2 1 82832 1.20726E-5 41416 0 3.1841E-5
4-89052361-T-A p.Asp128Val missense ABCG2 1 82824 1.20738E-5 41412 0 2.86569E-4
4-89052364-T-C p.Asp127Gly missense+splice_region ABCG2 2 82790 2.41575E-5 41395 0 NA
4-89052954-C-T c.378+1G>A splice_donor ABCG2 1 82856 1.20691E-5 41428 0 9.06635E-6
4-89052957-G-A p.Gln126* stop_gained ABCG2 10 82880 1.20656E-4 41440 0 5.0823E-4
4-89052964-G-A p.Tyr123Tyr synonymous ABCG2 685 82886 0.00826436 41443 12 0.0179606
4-89052996-G-A p.Arg113* stop_gained ABCG2 5 82856 6.03457E-5 41428 0 6.37765E-5
4-89052997-C-T p.Pro130Pro splice_region+synonymous ABCG2 8 82860 9.65484E-5 41430 0 8.76906E-5
4-89052998-G-T p.Pro130Gln missense+splice_region ABCG2 47 82844 5.67331E-4 41422 2 4.34516E-4
4-89052998-G-A p.Pro130Leu missense+splice_region ABCG2 2 82848 2.41406E-5 41424 0 3.33556E-5
4-89053002-C-T p.Ala111Thr missense ABCG2 2 82858 2.41377E-5 41429 0 2.49921E-5
4-89053010-A-G p.Ile108Thr missense ABCG2 1 82866 1.20677E-5 41433 0 3.18817E-5
4-89053014-G-A p.Leu107Leu synonymous ABCG2 1 82860 1.20685E-5 41430 0 1.99262E-5
4-89053019-T-C p.Asp105Gly missense ABCG2 1 82822 1.20741E-5 41411 0 NA
4-89053030-T-A p.Gly101Gly synonymous ABCG2 5 82798 6.03879E-5 41399 0 1.75371E-4
4-89053044-T-C p.Lys97Glu missense ABCG2 1 82746 1.20852E-5 41373 0 3.98683E-6
4-89053047-T-C p.Arg96Gly missense ABCG2 1 82714 1.20899E-5 41357 0 1.19617E-5
4-89053048-T-C p.Ala95Ala synonymous ABCG2 1 82702 1.20916E-5 41351 0 3.1841E-5
4-89053053-C-T p.Ala94Thr missense ABCG2 1 82650 1.20992E-5 41325 0 NA
4-89053072-A-G c.264-3T>C splice_region ABCG2 1 82428 1.21318E-5 41214 0 NA
4-89053721-T-C c.263+7A>G splice_region ABCG2 4 83216 4.80677E-5 41608 0 6.25E-4
4-89053723-C-T c.263+5G>A splice_region ABCG2 3 83216 3.60508E-5 41608 0 8.23968E-6
4-89053727-C-T c.263+1G>A splice_donor ABCG2 4 83226 4.80619E-5 41613 0 3.18492E-5
4-89053727-C-A c.263+1G>T splice_donor ABCG2 3 83226 3.60464E-5 41613 0 3.18492E-5
4-89053728-G-A p.Ser88Leu missense+splice_region ABCG2 4 83224 4.80631E-5 41612 0 5.03525E-4
4-89053730-A-G p.Ser87Ser splice_region+synonymous ABCG2 2 83232 2.40292E-5 41616 0 NA
4-89053755-A-C p.Leu79Arg missense ABCG2 2 83266 2.40194E-5 41633 0 NA
4-89053758-A-G p.Ile78Thr missense ABCG2 1 83262 1.20103E-5 41631 0 NA
4-89053762-C-T p.Ala77Thr missense ABCG2 2 83258 2.40217E-5 41629 0 6.37105E-5
4-89053770-C-T p.Gly74Asp missense ABCG2 4 83278 4.80319E-5 41639 0 6.36613E-5
4-89053775-T-C p.Lys72Lys synonymous ABCG2 1 83270 1.20091E-5 41635 0 3.97902E-6
4-89053780-T-C p.Met71Val missense ABCG2 106 83252 0.00127324 41626 1 0.005
4-89053790-G-A c.204-3C>T splice_region ABCG2 291 83228 0.00349642 41614 2 0.00713785
4-89053794-A-T c.204-7T>A splice_region ABCG2 1 83234 1.20143E-5 41617 0 7.95906E-6
4-89053795-C-G c.204-8G>C splice_region ABCG2 1 83222 1.20161E-5 41611 0 NA
4-89060937-G-A c.203+8C>T splice_region ABCG2 2 83070 2.40761E-5 41535 0 NA
4-89060950-ATTCGATAATAT-A p.Ile63fs frameshift ABCG2 17 83118 2.04529E-4 41559 0 1.71834E-4
4-89060951-T-A p.Asn66Ile missense ABCG2 2 83116 2.40628E-5 41558 0 9.00155E-6
4-89060953-C-T p.Ser65Ser synonymous ABCG2 9 83132 1.08262E-4 41566 0 1.15778E-4
4-89060955-A-G p.Ser65Pro missense ABCG2 1 83140 1.20279E-5 41570 0 NA
4-89060971-A-C p.Val59Val synonymous ABCG2 1 83180 1.20221E-5 41590 0 NA
4-89060973-C-T p.Val59Ile missense ABCG2 1 83176 1.20227E-5 41588 0 NA
4-89060981-C-T p.Arg56Gln missense ABCG2 5 83182 6.01092E-5 41591 0 7.54983E-5
4-89060982-G-A p.Arg56* stop_gained ABCG2 2 83184 2.40431E-5 41592 0 1.59272E-5
4-89060982-G-C p.Arg56Gly missense ABCG2 1 83184 1.20215E-5 41592 0 NA
4-89060993-A-G p.Phe52Ser missense ABCG2 1 83198 1.20195E-5 41599 0 NA
4-89061007-T-C p.Lys47Lys synonymous ABCG2 1 83190 1.20207E-5 41595 0 3.97988E-6
4-89061014-C-A p.Arg45Leu missense ABCG2 1 83182 1.20218E-5 41591 0 NA
4-89061015-G-A p.Arg45* stop_gained ABCG2 1 83178 1.20224E-5 41589 0 8.3091E-6
4-89061017-T-C p.Tyr44Cys missense ABCG2 1 83180 1.20221E-5 41590 0 3.97985E-6
4-89061018-A-G p.Tyr44His missense ABCG2 1 83184 1.20215E-5 41592 0 6.3678E-5
4-89061040-C-G p.Val36Val synonymous ABCG2 1 83164 1.20244E-5 41582 0 NA
4-89061047-C-T p.Gly34Glu missense ABCG2 2 83138 2.40564E-5 41569 0 NA
4-89061062-T-C p.Lys29Arg missense ABCG2 1 83114 1.20317E-5 41557 0 3.18329E-5
4-89061069-C-G p.Asp27His missense ABCG2 2 83082 2.40726E-5 41541 0 NA
4-89061071-T-C p.Asn26Ser missense ABCG2 4 83072 4.8151E-5 41536 0 3.58354E-5
4-89061083-G-A p.Ala22Val missense ABCG2 4 82984 4.82021E-5 41492 0 1.59205E-4
4-89061085-G-A p.Pro21Pro synonymous ABCG2 2 82972 2.41045E-5 41486 0 3.18649E-5
4-89061094-A-G p.Asn18Asn synonymous ABCG2 2 82928 2.41173E-5 41464 0 NA
4-89061099-T-A p.Thr17Ser missense ABCG2 1 82904 1.20621E-5 41452 0 3.18431E-5
4-89061099-T-C p.Thr17Ala missense ABCG2 1 82904 1.20621E-5 41452 0 3.98378E-6
4-89061114-C-T p.Val12Met missense ABCG2 5885 82428 0.0713956 41214 325 0.114189
4-89061127-T-G p.Glu7Asp missense ABCG2 1 82648 1.20995E-5 41324 0 4.28244E-5
4-89061129-C-T p.Glu7Lys missense ABCG2 1 82614 1.21045E-5 41307 0 NA
4-89061130-G-A p.Val6Val synonymous ABCG2 16 82588 1.93733E-4 41294 0 1.29664E-4
4-89061134-T-C p.Asn5Ser missense ABCG2 3 82560 3.63372E-5 41280 0 7.98524E-6
4-89061151-GA-G p.Leu17fs frameshift ABCG2 1 82162 1.21711E-5 41081 0 NA
4-89061153-G-C p.Leu17Val missense ABCG2 2 82090 2.43635E-5 41045 0 4.01774E-6
4-89061165-T-G p.Lys13Gln missense+splice_region ABCG2 1 81798 1.22252E-5 40899 0 NA
4-89061174-C-G c.-19-8G>C splice_region ABCG2 4 81412 4.91328E-5 40706 0 1.27421E-4
4-89079547-T-C c.-29A>G 5_prime_UTR_premature_start_codon_gain ABCG2 21 12276 0.00171065 6138 0 0.00165605
4-89079583-G-C c.-65C>G 5_prime_UTR_premature_start_codon_gain ABCG2 25 13140 0.00190259 6570 0 0.00267584
4-89079682-C-T c.-164G>A 5_prime_UTR_premature_start_codon_gain ABCG2 1 13472 7.4228E-5 6736 0 1.27356E-4
4-89079695-C-T c.-177G>A 5_prime_UTR_premature_start_codon_gain ABCG2 3 13472 2.22684E-4 6736 0 7.62474E-6
4-89079740-A-G p.Cys28Cys synonymous ABCG2 3 13448 2.23082E-4 6724 0 3.18654E-5
4-89079745-C-G p.Ala27Pro missense ABCG2 2 13454 1.48655E-4 6727 0 6.37064E-5
4-89079775-T-C p.Thr17Ala missense ABCG2 1 13440 7.44048E-5 6720 0 NA
4-89079780-G-A p.Thr15Ile missense ABCG2 5 13434 3.7219E-4 6717 0 0.00720158
4-89079791-T-C p.Ala11Ala synonymous ABCG2 4 13428 2.97885E-4 6714 0 6.25E-4
4-89079889-G-C c.-371C>G 5_prime_UTR_premature_start_codon_gain ABCG2 1 10316 9.69368E-5 5158 0 NA
4-89079942-C-A c.-424G>T 5_prime_UTR_premature_start_codon_gain ABCG2 1 8546 1.17014E-4 4273 0 8.29717E-4
4-89080351-C-G c.35+6G>C splice_region ABCG2 350 10514 0.0332889 5257 7 0.034463
4-89080356-C-T c.35+1G>A splice_donor ABCG2 1 10518 9.50751E-5 5259 0 NA