Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
10-101542578-C-T c.-24C>T 5_prime_UTR_premature_start_codon_gain ABCC2 14092 82840 0.170111 41420 1260 0.170547
10-101542587-C-T c.-15C>T 5_prime_UTR_premature_start_codon_gain ABCC2 2 83160 2.405E-5 41580 0 2.38739E-5
10-101542604-G-A p.Met1? start_lost ABCC2 2 83160 2.405E-5 41580 0 7.95754E-6
10-101542607-G-A p.Leu2Leu synonymous ABCC2 2 83156 2.40512E-5 41578 0 1.98938E-5
10-101542624-C-T p.Ser8Phe missense ABCC2 6 83122 7.21831E-5 41561 0 5.03525E-4
10-101544357-G-A c.34-8G>A splice_region ABCC2 190 83032 0.00228827 41516 2 0.00423621
10-101544364-G-T c.34-1G>T splice_acceptor ABCC2 2 83156 2.40512E-5 41578 0 NA
10-101544367-T-C p.Asn12Asn splice_region+synonymous ABCC2 3 83192 3.60612E-5 41596 0 3.1839E-5
10-101544387-C-T p.Pro19Leu missense ABCC2 8 83312 9.60246E-5 41656 0 5.03525E-4
10-101544388-G-A p.Pro19Pro synonymous ABCC2 2 83324 2.40027E-5 41662 0 0.00100705
10-101544393-C-G p.Ala21Gly missense ABCC2 1 83318 1.20022E-5 41659 0 1.64832E-5
10-101544411-T-G p.Phe27Cys missense ABCC2 1 83340 1.1999E-5 41670 0 NA
10-101544417-A-ACATGGATAC p.Gln29delinsHisMetAspThr disruptive_inframe_insertion ABCC2 1 83338 1.19993E-5 41669 0 NA
10-101544419-A-T p.Thr30Ser missense ABCC2 9 83342 1.07989E-4 41671 0 3.18613E-5
10-101544426-T-C p.Leu32Pro missense ABCC2 2 83334 2.39998E-5 41667 0 NA
10-101544428-G-T p.Val33Leu missense ABCC2 1 83330 1.20005E-5 41665 0 8.23642E-5
10-101544447-A-T p.Tyr39Phe missense ABCC2 83043 83270 0.997274 41635 41416 1.0
10-101544467-T-C p.Trp46Arg missense ABCC2 2 83318 2.40044E-5 41659 0 5.76587E-5
10-101544481-C-T p.His50His synonymous ABCC2 41 83312 4.92126E-4 41656 0 3.82093E-4
10-101544482-G-A p.Val51Met missense ABCC2 3 83308 3.60109E-5 41654 0 6.76133E-5
10-101544482-G-T p.Val51Leu missense ABCC2 1 83308 1.20036E-5 41654 0 NA
10-101544490-A-G p.Lys53Lys synonymous ABCC2 477 83294 0.0057267 41647 3 0.040282
10-101544493-C-G p.Ser54Ser synonymous ABCC2 3 83304 3.60127E-5 41652 0 5.03525E-4
10-101544520-A-G p.Lys63Lys synonymous ABCC2 3 83280 3.60231E-5 41640 0 1.91266E-4
10-101544522-TC-CT p.Leu64Pro missense ABCC2 1 83266 1.20097E-5 41633 0 NA
10-101544525-A-C p.Tyr65Ser missense ABCC2 2 83262 2.40206E-5 41631 0 1.64745E-5
10-101544534-A-C p.Lys68Thr missense ABCC2 4 83238 4.8055E-5 41619 0 9.55414E-5
10-101544537-A-C p.Gln69Pro missense+splice_region ABCC2 2 83226 2.4031E-5 41613 0 1.27389E-4
10-101544539-G-T c.207+1G>T splice_donor ABCC2 1 83204 1.20187E-5 41602 0 NA
10-101544541-A-G c.207+3A>G splice_region ABCC2 1 83200 1.20192E-5 41600 0 3.97693E-6
10-101551991-G-A p.Val70Ile missense+splice_region ABCC2 3 83262 3.60308E-5 41631 0 3.29538E-5
10-101551996-C-A p.Phe71Leu missense ABCC2 1 83266 1.20097E-5 41633 0 NA
10-101551996-C-T p.Phe71Phe synonymous ABCC2 3 83266 3.60291E-5 41633 0 6.37146E-5
10-101551996-C-G p.Phe71Leu missense ABCC2 1 83266 1.20097E-5 41633 0 8.23818E-6
10-101551997-G-A p.Val72Ile missense ABCC2 2 83276 2.40165E-5 41638 0 3.18532E-5
10-101552015-C-T p.Leu78Leu synonymous ABCC2 13 83268 1.56122E-4 41634 0 9.15357E-5
10-101552041-A-G p.Val86Val synonymous ABCC2 22 83246 2.64277E-4 41623 0 8.92516E-4
10-101552065-C-T p.Ala94Ala synonymous ABCC2 5 83300 6.0024E-5 41650 0 8.239E-6
10-101552065-C-G p.Ala94Ala synonymous ABCC2 1 83300 1.20048E-5 41650 0 NA
10-101552077-T-C p.Ala98Ala synonymous ABCC2 2 83304 2.40085E-5 41652 0 3.29538E-5
10-101552081-C-T p.Arg100* stop_gained ABCC2 2 83300 2.40096E-5 41650 0 6.36862E-5
10-101552082-G-A p.Arg100Gln missense ABCC2 2 83292 2.40119E-5 41646 0 4.11957E-5
10-101552089-C-A p.Thr102Thr synonymous ABCC2 15 83300 1.80072E-4 41650 0 3.18573E-5
10-101552090-A-C p.Asn103His missense ABCC2 1 83302 1.20045E-5 41651 0 NA
10-101552108-G-C p.Gly109Arg missense ABCC2 1 83270 1.20091E-5 41635 0 8.23845E-6
10-101552113-A-G p.Thr110Thr synonymous ABCC2 1 83262 1.20103E-5 41631 0 8.23832E-6
10-101552122-A-T c.333+6A>T splice_region ABCC2 1 83222 1.20161E-5 41611 0 NA
10-101553305-C-T c.334-3C>T splice_region ABCC2 6 83230 7.20894E-5 41615 0 6.25E-4
10-101553312-T-C p.Leu113Pro missense ABCC2 1 83234 1.20143E-5 41617 0 5.17067E-5
10-101553313-G-A p.Leu113Leu synonymous ABCC2 11 83236 1.32154E-4 41618 0 3.18431E-4
10-101553316-T-G p.Val114Val synonymous ABCC2 2 83236 2.40281E-5 41618 1 NA
10-101553325-C-G p.Ile117Met missense ABCC2 1 83242 1.20132E-5 41621 0 3.18471E-5
10-101553328-A-G p.Gln118Gln synonymous ABCC2 1 83232 1.20146E-5 41616 0 NA
10-101553331-C-T p.Tyr119Tyr synonymous ABCC2 4 83238 4.8055E-5 41619 0 3.97795E-6
10-101553333-G-T p.Ser120Ile missense ABCC2 1 83224 1.20158E-5 41612 0 NA
10-101553343-G-T p.Trp123Cys missense ABCC2 1 83234 1.20143E-5 41617 0 7.41388E-5
10-101553345-G-T p.Cys124Phe missense ABCC2 2 83240 2.40269E-5 41620 0 1.59117E-5
10-101553345-G-C p.Cys124Ser missense ABCC2 1 83240 1.20135E-5 41620 0 NA
10-101553347-G-A p.Val125Ile missense ABCC2 1 83224 1.20158E-5 41612 0 7.95602E-6
10-101553352-GA-G p.Asn128fs frameshift ABCC2 1 83220 1.20163E-5 41610 0 NA
10-101553359-T-C p.Ser129Pro missense ABCC2 1 83236 1.2014E-5 41618 0 NA
10-101553361-C-T p.Ser129Ser synonymous ABCC2 1 83242 1.20132E-5 41621 0 4.94291E-5
10-101553370-G-C p.Leu132Leu synonymous ABCC2 2 83238 2.40275E-5 41619 0 NA
10-101553371-T-A p.Ser133Thr missense ABCC2 1 83234 1.20143E-5 41617 0 NA
10-101553381-G-A p.Trp136* stop_gained ABCC2 1 83232 1.20146E-5 41616 0 NA
10-101553390-C-T p.Ser139Leu missense ABCC2 4 83226 4.80619E-5 41613 0 4.1195E-5
10-101553391-G-A p.Ser139Ser synonymous ABCC2 1 83216 1.20169E-5 41608 0 3.18674E-5
10-101553393-T-A p.Ile140Lys missense ABCC2 2 83226 2.4031E-5 41613 0 6.3674E-5
10-101553396-T-A p.Leu141His missense ABCC2 2 83222 2.40321E-5 41611 0 1.5915E-5
10-101553401-G-T p.Gly143Cys missense ABCC2 1 83212 1.20175E-5 41606 0 NA
10-101553413-T-C p.Phe147Leu missense ABCC2 2 83194 2.40402E-5 41597 0 NA
10-101553422-C-G p.Leu150Val missense ABCC2 1 83190 1.20207E-5 41595 0 NA
10-101553428-C-T p.Arg152Trp missense ABCC2 19 83176 2.28431E-4 41588 0 0.00100705
10-101553435-T-A p.Leu154His missense ABCC2 2 83166 2.40483E-5 41583 0 6.37146E-5
10-101553448-GA-G c.468+7delA splice_region ABCC2 8 83144 9.62186E-5 41572 0 1.23689E-4
10-101553645-A-G c.469-4A>G splice_region ABCC2 1 83098 1.2034E-5 41549 0 1.64921E-5
10-101553646-T-C c.469-3T>C splice_region ABCC2 1 83114 1.20317E-5 41557 0 NA
10-101553652-G-C p.Asp158His missense ABCC2 1 83112 1.2032E-5 41556 0 NA
10-101553654-CA-C p.Asn159fs frameshift ABCC2 1 83108 1.20325E-5 41554 0 3.18492E-5
10-101553660-T-A p.Ser160Ser synonymous ABCC2 1 83110 1.20322E-5 41555 0 3.1837E-5
10-101553661-A-C p.Asn161His missense ABCC2 2 83108 2.40651E-5 41554 1 NA
10-101553669-C-G p.Ala163Ala synonymous ABCC2 1 83106 1.20328E-5 41553 0 NA
10-101553682-T-G p.Phe168Val missense ABCC2 2 83088 2.40709E-5 41544 0 6.36867E-5
10-101553688-A-G p.Ile170Val missense ABCC2 2 83050 2.40819E-5 41525 0 NA
10-101553696-C-T p.Tyr172Tyr synonymous ABCC2 1 83012 1.20465E-5 41506 0 3.98213E-5
10-101553697-G-A p.Gly173Arg missense ABCC2 1 83010 1.20467E-5 41505 0 6.25E-4
10-101553700-T-TTCCAGA p.Gln175_Ile176dup disruptive_inframe_insertion ABCC2 1 82996 1.20488E-5 41498 0 NA
10-101553713-T-C p.Ile178Thr missense ABCC2 2 82932 2.41161E-5 41466 0 8.24321E-6
10-101553724-T-G p.Ser182Ala missense ABCC2 2 82848 2.41406E-5 41424 0 6.36943E-5
10-101553737-A-G p.Glu186Gly missense ABCC2 5 82734 6.04346E-5 41367 0 6.36862E-5
10-101553742-A-C p.Asn188His missense ABCC2 1 82692 1.20931E-5 41346 0 NA
10-101553748-T-C p.Ser190Pro missense ABCC2 1 82606 1.21057E-5 41303 0 8.26105E-6
10-101553753-A-G p.Ser191Ser synonymous ABCC2 2 82528 2.42342E-5 41264 0 6.36821E-5
10-101553754-A-G p.Asn192Asp missense+splice_region ABCC2 2 82520 2.42365E-5 41260 0 3.18471E-5
10-101553757-G-A c.576+1G>A splice_donor ABCC2 2 82440 2.42601E-5 41220 0 3.18532E-5
10-101554166-T-G c.577-4T>G splice_region ABCC2 3 83074 3.61124E-5 41537 0 3.18552E-5
10-101554167-C-T c.577-3C>T splice_region ABCC2 8 83068 9.63066E-5 41534 0 4.13039E-5
10-101554194-C-T p.Leu201Leu synonymous ABCC2 2 83090 2.40703E-5 41545 0 1.19427E-5
10-101554194-C-G p.Leu201Val missense ABCC2 5 83090 6.01757E-5 41545 0 3.18492E-5
10-101554199-T-C p.Ser202Ser synonymous ABCC2 1 83084 1.2036E-5 41542 0 1.19419E-5
10-101554220-T-A p.Tyr209* stop_gained ABCC2 2 83068 2.40767E-5 41534 0 1.65006E-5
10-101556850-C-T c.633-4C>T splice_region ABCC2 1 82866 1.20677E-5 41433 0 NA
10-101556853-G-T c.633-1G>T splice_acceptor ABCC2 1 82878 1.20659E-5 41439 0 7.96743E-6
10-101556856-T-A p.Ile212Asn missense+splice_region ABCC2 1 82888 1.20645E-5 41444 0 NA
10-101556869-C-G p.Gly216Gly synonymous ABCC2 2 82924 2.41185E-5 41462 0 NA
10-101556871-A-C p.Tyr217Ser missense ABCC2 2 82928 2.41173E-5 41464 0 1.40561E-4
10-101556876-C-T p.Arg219Cys missense ABCC2 3 82910 3.61838E-5 41455 0 6.36943E-5
10-101556877-G-A p.Arg219His missense ABCC2 2 82924 2.41185E-5 41462 0 1.40396E-4
10-101556890-C-T p.Leu223Leu synonymous ABCC2 1 82874 1.20665E-5 41437 0 1.19466E-5
10-101556891-G-A p.Glu224Lys missense ABCC2 1 82894 1.20636E-5 41447 0 NA
10-101556895-A-G p.Asp225Gly missense ABCC2 1 82914 1.20607E-5 41457 0 NA
10-101556903-G-A p.Glu228Lys missense ABCC2 4 82908 4.82462E-5 41454 0 1.5929E-5
10-101556906-G-A p.Val229Ile missense ABCC2 1 82900 1.20627E-5 41450 0 3.98226E-6
10-101556926-C-T p.Thr235Thr synonymous ABCC2 2 82866 2.41354E-5 41433 0 8.24498E-6
10-101556927-A-G p.Lys236Glu missense ABCC2 2 82870 2.41342E-5 41435 0 8.24498E-6
10-101556939-A-G p.Ser240Gly missense ABCC2 7 82884 8.44554E-5 41442 0 1.59314E-5
10-101556952-C-T p.Thr244Met missense ABCC2 5 82884 6.03253E-5 41442 0 3.18492E-5
10-101556957-A-C p.Met246Leu missense ABCC2 14 82888 1.68903E-4 41444 0 5.09392E-4
10-101556957-A-G p.Met246Val missense ABCC2 1 82888 1.20645E-5 41444 0 5.7772E-5
10-101556984-C-T p.Arg255Trp missense ABCC2 18 82782 2.17439E-4 41391 0 1.1159E-4
10-101556985-G-A p.Arg255Gln missense ABCC2 4 82800 4.83092E-5 41400 0 2.2293E-4
10-101556999-C-T p.Arg260Trp missense ABCC2 2 82756 2.41674E-5 41378 0 6.71028E-5
10-101557000-G-A p.Arg260Gln missense ABCC2 5 82736 6.04332E-5 41368 0 6.72314E-5
10-101557001-G-A p.Arg260Arg synonymous ABCC2 3 82736 3.62599E-5 41368 0 3.1841E-5
10-101557021-A-G p.Gln267Arg missense ABCC2 4 82686 4.83758E-5 41343 0 8.64977E-6
10-101557025-C-G p.Asn268Lys missense ABCC2 1 82674 1.20957E-5 41337 0 NA
10-101557028-T-A p.Ser269Ser synonymous ABCC2 1 82678 1.20951E-5 41339 0 3.18512E-5
10-101557038-C-T p.Leu273Leu synonymous ABCC2 3 82622 3.63099E-5 41311 0 8.9439E-5
10-101557041-CCT-C p.Pro274fs frameshift ABCC2 1 82574 1.21103E-5 41287 0 NA
10-101557044-G-A p.Gly275Ser missense ABCC2 1 82590 1.2108E-5 41295 0 NA
10-101557049-G-A p.Leu276Leu synonymous ABCC2 1 82478 1.21244E-5 41239 0 3.18431E-5
10-101557049-G-C p.Leu276Phe missense ABCC2 1 82478 1.21244E-5 41239 0 4.00368E-6
10-101557052-C-T p.Asn277Asn synonymous ABCC2 3 82448 3.63866E-5 41224 0 9.31012E-6
10-101557063-G-A p.Ser281Asn missense ABCC2 627 82206 0.00762718 41103 6 0.013125
10-101557070-C-T p.Ser283Ser synonymous ABCC2 2 81952 2.44045E-5 40976 0 4.03985E-6
10-101557076-T-C p.Asp285Asp synonymous ABCC2 2 81826 2.44421E-5 40913 0 5.27426E-5
10-101557082-T-C p.Leu287Leu synonymous ABCC2 1 81614 1.22528E-5 40807 0 4.09045E-6
10-101557096-T-C p.Phe292Ser missense ABCC2 37 81236 4.55463E-4 40618 1 0.00130607
10-101558977-A-G p.Lys294Arg missense ABCC2 1 82890 1.20642E-5 41445 0 1.19577E-5
10-101558978-G-T p.Lys294Asn missense ABCC2 1 82910 1.20613E-5 41455 0 NA
10-101558985-A-G p.Lys297Glu missense ABCC2 1 83010 1.20467E-5 41505 0 6.25E-4
10-101558994-G-A p.Gly300Arg missense ABCC2 1 83080 1.20366E-5 41540 0 NA
10-101558996-G-T p.Gly300Gly synonymous ABCC2 1 83104 1.20331E-5 41552 0 1.64981E-5
10-101558999-C-CA p.Asp304fs frameshift ABCC2 1 83134 1.20288E-5 41567 0 NA
10-101559000-AAAAAAGATGTTCC-A p.Lys303fs frameshift ABCC2 1 83138 1.20282E-5 41569 0 8.24633E-6
10-101559004-A-G p.Lys303Arg missense ABCC2 1 83168 1.20239E-5 41584 0 6.25E-4
10-101559008-T-C p.Asp304Asp synonymous ABCC2 1 83180 1.20221E-5 41590 0 3.18512E-5
10-101559019-C-T p.Ser308Phe missense ABCC2 2 83222 2.40321E-5 41611 0 NA
10-101559028-T-C p.Met311Thr missense ABCC2 1 83248 1.20123E-5 41624 0 3.9795E-6
10-101559038-G-C p.Leu314Leu synonymous ABCC2 2 83260 2.40211E-5 41630 0 1.64734E-5
10-101559054-A-G p.Met320Val missense ABCC2 2 83274 2.40171E-5 41637 0 5.56948E-5
10-101559064-T-C p.Leu323Pro missense ABCC2 1 83256 1.20111E-5 41628 0 3.97839E-6
10-101559070-C-G p.Ser325* stop_gained ABCC2 6 83232 7.20877E-5 41616 0 6.36943E-5
10-101559079-T-C p.Leu328Pro missense ABCC2 2 83188 2.40419E-5 41594 0 NA
10-101559080-G-A p.Leu328Leu synonymous ABCC2 2 83172 2.40466E-5 41586 0 8.23655E-6
10-101559094-A-G p.Asp333Gly missense ABCC2 33 83128 3.96978E-4 41564 0 0.00117812
10-101559095-C-T p.Asp333Asp synonymous ABCC2 1 83120 1.20308E-5 41560 0 3.18431E-5
10-101559096-A-G p.Ile334Val missense ABCC2 2 83118 2.40622E-5 41559 0 NA
10-101559103-C-T p.Thr336Met missense ABCC2 63 83060 7.58488E-4 41530 0 5.03525E-4
10-101559104-G-A p.Thr336Thr synonymous ABCC2 1 83046 1.20415E-5 41523 0 6.25E-4
10-101559131-A-G c.1031+4A>G splice_region ABCC2 9 82922 1.08536E-4 41461 0 8.24022E-5
10-101560136-C-T c.1032-7C>T splice_region ABCC2 1 82780 1.20802E-5 41390 0 NA
10-101560140-C-T c.1032-3C>T splice_region ABCC2 149 82776 0.00180004 41388 0 0.00298173
10-101560144-T-C p.Leu345Leu splice_region+synonymous ABCC2 1 82810 1.20758E-5 41405 0 NA
10-101560145-T-G p.Leu345Trp missense+splice_region ABCC2 1 82812 1.20755E-5 41406 0 3.18573E-5
10-101560150-A-G p.Ile347Val missense ABCC2 1 82832 1.20726E-5 41416 0 5.04541E-4
10-101560162-A-G p.Ser351Gly missense ABCC2 2 82828 2.41464E-5 41414 0 3.18451E-5
10-101560164-T-C p.Ser351Ser synonymous ABCC2 2 82832 2.41453E-5 41416 0 1.19466E-5
10-101560168-C-T p.Arg353Cys missense ABCC2 6 82832 7.24358E-5 41416 0 6.37024E-5
10-101560169-G-A p.Arg353His missense ABCC2 623 82826 0.00752179 41413 16 0.014333
10-101560186-A-G p.Ile359Val missense ABCC2 2 82846 2.41412E-5 41423 0 3.98213E-6
10-101560190-G-C p.Gly360Ala missense ABCC2 1 82850 1.207E-5 41425 0 3.18492E-5
10-101560196-T-C p.Leu362Pro missense ABCC2 1 82854 1.20694E-5 41427 0 1.64731E-5
10-101560197-CTG-C p.Ala364fs frameshift ABCC2 2 82858 2.41377E-5 41429 0 NA
10-101560199-G-A p.Cys363Tyr missense ABCC2 2 82866 2.41354E-5 41433 0 NA
10-101560220-C-T p.Ala370Val missense ABCC2 3 82876 3.61987E-5 41438 0 3.18512E-5
10-101560221-G-A p.Ala370Ala synonymous ABCC2 1 82878 1.20659E-5 41439 0 8.23669E-6
10-101560240-T-C p.Cys377Arg missense ABCC2 2 82886 2.41295E-5 41443 0 8.23683E-6
10-101560252-T-C p.Tyr381His missense ABCC2 1 82894 1.20636E-5 41447 0 NA
10-101560258-C-T p.Gln383* stop_gained ABCC2 2 82896 2.41266E-5 41448 0 NA
10-101560260-A-G p.Gln383Gln synonymous ABCC2 1 82884 1.20651E-5 41442 0 NA
10-101560271-A-G p.Lys387Arg missense ABCC2 3 82884 3.61952E-5 41442 0 1.15323E-4
10-101560276-G-A p.Gly389Ser missense ABCC2 2 82904 2.41243E-5 41452 0 NA
10-101560279-G-A p.Val390Ile missense ABCC2 1 82900 1.20627E-5 41450 0 3.98175E-6
10-101560288-C-T p.Arg393Trp missense ABCC2 2 82898 2.4126E-5 41449 0 7.16743E-5
10-101560290-G-A p.Arg393Arg synonymous ABCC2 4 82888 4.82579E-5 41444 0 1.64769E-5
10-101560303-G-A p.Ala398Thr missense ABCC2 1 82840 1.20715E-5 41420 0 3.98286E-6
10-101560309-G-A p.Val400Ile missense ABCC2 1 82828 1.20732E-5 41414 0 NA
10-101560322-T-A c.1209+2T>A splice_donor ABCC2 1 82802 1.2077E-5 41401 0 NA
10-101563783-C-G p.Thr406Ser missense ABCC2 3 83198 3.60586E-5 41599 0 6.36943E-5
10-101563784-C-G p.Thr406Thr synonymous ABCC2 1 83198 1.20195E-5 41599 0 8.24158E-6
10-101563785-C-T p.Leu407Leu synonymous ABCC2 348 83196 0.00418289 41598 5 0.0100705
10-101563797-G-C p.Ala411Pro missense ABCC2 1 83174 1.2023E-5 41587 0 8.24076E-6
10-101563798-C-T p.Ala411Val missense ABCC2 1 83184 1.20215E-5 41592 0 NA
10-101563801-G-A p.Arg412Lys missense ABCC2 1 83198 1.20195E-5 41599 0 NA
10-101563814-C-T p.Thr416Thr synonymous ABCC2 2 83160 2.405E-5 41580 0 1.59217E-5
10-101563815-G-A p.Val417Ile missense ABCC2 16254 82854 0.196176 41427 1659 0.265
10-101563815-GT-AC p.Val417Thr missense ABCC2 34 83156 4.0887E-4 41578 0 NA
10-101563816-T-C p.Val417Ala missense ABCC2 11 83162 1.32272E-4 41581 0 4.11997E-4
10-101563821-G-C p.Glu419Gln missense ABCC2 1 83166 1.20241E-5 41583 0 NA
10-101563856-GC-G p.Leu431fs frameshift ABCC2 2 83150 2.40529E-5 41575 0 3.97994E-6
10-101563861-T-A p.Met432Lys missense ABCC2 2 83140 2.40558E-5 41570 0 5.04032E-4
10-101563874-CT-C p.Phe437fs frameshift ABCC2 1 83136 1.20285E-5 41568 0 NA
10-101563875-T-A p.Phe437Ile missense ABCC2 1 83136 1.20285E-5 41568 0 1.19391E-5
10-101563878-A-G p.Met438Val missense ABCC2 7 83126 8.42095E-5 41563 0 1.64804E-5
10-101563887-C-A p.Leu441Met missense ABCC2 3 83136 3.60855E-5 41568 0 3.98026E-6
10-101563890-T-C p.Trp442Arg missense ABCC2 1 83144 1.20273E-5 41572 0 8.23995E-6
10-101563901-TC-T p.Leu446fs frameshift ABCC2 1 83146 1.2027E-5 41573 0 3.97997E-6
10-101563903-T-G p.Leu446Arg missense ABCC2 1 83144 1.20273E-5 41572 0 3.97991E-6
10-101563904-A-G p.Leu446Leu synonymous ABCC2 2 83146 2.40541E-5 41573 0 1.59209E-5
10-101563910-T-G p.Ile448Met missense ABCC2 3 83132 3.60872E-5 41566 0 7.96001E-6
10-101563912-T-C p.Val449Ala missense ABCC2 1 83126 1.20299E-5 41563 0 NA
10-101563921-T-A p.Ile452Asn missense ABCC2 1 83098 1.2034E-5 41549 0 NA
10-101563929-C-T p.Leu455Leu synonymous ABCC2 3 83070 3.61141E-5 41535 0 8.23995E-6
10-101563941-T-G p.Leu459Val missense ABCC2 1 83034 1.20433E-5 41517 0 NA
10-101563941-T-C p.Leu459Leu synonymous ABCC2 1 83034 1.20433E-5 41517 0 3.18857E-5
10-101563955-C-T p.Val463Val synonymous ABCC2 1 83044 1.20418E-5 41522 0 NA
10-101563965-G-A p.Val467Ile missense ABCC2 1 83042 1.20421E-5 41521 0 3.98083E-6
10-101563967-T-A p.Val467Val synonymous ABCC2 2 83048 2.40825E-5 41524 0 NA
10-101563971-G-A p.Val469Met missense ABCC2 1 83020 1.20453E-5 41510 0 8.23954E-6
10-101563974-A-G p.Met470Val missense ABCC2 1 82998 1.20485E-5 41499 0 NA
10-101563989-C-A p.Pro475Thr missense ABCC2 1 82926 1.20589E-5 41463 0 NA
10-101563995-A-C p.Asn477His missense ABCC2 1 82900 1.20627E-5 41450 0 NA
10-101563999-C-T p.Ala478Val missense ABCC2 8 82882 9.65228E-5 41441 0 6.25E-4
10-101564000-G-T p.Ala478Ala synonymous ABCC2 8 82894 9.65088E-5 41447 1 6.77048E-5
10-101564000-G-A p.Ala478Ala synonymous ABCC2 15 82892 1.80958E-4 41446 0 0.00100705
10-101564012-C-G p.Thr482Thr synonymous ABCC2 877 82816 0.0105897 41408 10 0.0118168
10-101564012-C-T p.Thr482Thr synonymous ABCC2 20 82838 2.41435E-4 41419 0 8.36487E-5
10-101564023-C-T p.Thr486Ile missense ABCC2 9 82764 1.08743E-4 41382 0 3.66525E-4
10-101564023-C-A p.Thr486Asn missense ABCC2 2 82764 2.41651E-5 41382 0 NA
10-101565149-T-C p.Met492Thr missense ABCC2 3 83150 3.60794E-5 41575 0 1.64853E-5
10-101565157-A-G p.Lys495Glu missense ABCC2 261 83192 0.00313732 41596 1 0.0045524
10-101565164-A-G p.Lys497Arg missense ABCC2 2 83200 2.40385E-5 41600 0 NA
10-101565166-C-T p.Arg498Cys missense ABCC2 1 83192 1.20204E-5 41596 0 2.47202E-5
10-101565167-G-A p.Arg498His missense ABCC2 3 83204 3.6056E-5 41602 0 9.55962E-5
10-101567139-A-G c.1531-2A>G splice_acceptor ABCC2 4 82204 4.86594E-5 41102 0 2.39114E-5
10-101567170-A-G p.Ser520Ser synonymous ABCC2 1 82620 1.21036E-5 41310 0 3.18593E-5
10-101567174-A-G p.Arg522Gly missense ABCC2 1 82642 1.21004E-5 41321 0 NA
10-101567193-T-G p.Leu528Arg missense ABCC2 4 82730 4.83501E-5 41365 0 NA
10-101567195-C-T p.Arg529Trp missense ABCC2 8 82742 9.66861E-5 41371 0 1.48304E-4
10-101567196-G-A p.Arg529Gln missense ABCC2 1 82752 1.20843E-5 41376 0 4.3816E-5
10-101567212-G-T p.Lys534Asn missense ABCC2 17 82802 2.05309E-4 41401 0 1.3183E-4
10-101567218-G-A p.Leu536Leu synonymous ABCC2 1 82816 1.2075E-5 41408 0 8.2394E-6
10-101567224-CT-C p.Phe539fs frameshift ABCC2 1 82810 1.20758E-5 41405 0 3.1841E-5
10-101567234-C-T p.Leu542Leu synonymous ABCC2 2 82788 2.41581E-5 41394 0 3.1837E-5
10-101567254-C-A p.Phe548Leu missense ABCC2 5 82634 6.05078E-5 41317 0 3.29652E-5
10-101567255-G-A p.Val549Ile missense ABCC2 2 82624 2.4206E-5 41312 0 5.03525E-4
10-101567263-G-GT p.Leu552fs frameshift ABCC2 1 82538 1.21156E-5 41269 0 3.98406E-6
10-101567268-C-T p.Thr553Ile missense ABCC2 7 82476 8.48732E-5 41238 1 6.25E-4
10-101567281-G-T c.1668+3G>T splice_region ABCC2 1 82274 1.21545E-5 41137 0 3.18471E-5
10-101567281-G-A c.1668+3G>A splice_region ABCC2 1 82274 1.21545E-5 41137 0 NA
10-101567834-T-C c.1669-6T>C splice_region ABCC2 1 83350 1.19976E-5 41675 0 NA
10-101567857-T-G p.Phe562Leu missense ABCC2 4 83366 4.79812E-5 41683 0 NA
10-101567863-T-G p.Val564Val synonymous ABCC2 2 83366 2.39906E-5 41683 0 8.23696E-6
10-101567867-G-A p.Val566Ile missense ABCC2 4 83366 4.79812E-5 41683 0 9.55962E-5
10-101567892-T-C p.Leu574Ser missense ABCC2 2 83374 2.39883E-5 41687 0 NA
10-101567914-C-T p.Thr581Thr synonymous ABCC2 1 83374 1.19941E-5 41687 0 NA
10-101567929-C-T p.Phe586Phe synonymous ABCC2 1 83348 1.19979E-5 41674 0 2.47105E-5
10-101567931-A-G p.Asn587Ser missense ABCC2 4 83344 4.79939E-5 41672 0 1.64739E-5
10-101567935-C-T p.Ile588Ile synonymous ABCC2 1 83340 1.1999E-5 41670 0 NA
10-101567939-C-A p.Arg590Ser missense ABCC2 1 83344 1.19985E-5 41672 0 8.23696E-6
10-101567939-C-T p.Arg590Cys missense ABCC2 5 83344 5.99923E-5 41672 0 7.95849E-6
10-101567940-G-A p.Arg590His missense ABCC2 5 83336 5.99981E-5 41668 0 6.37227E-5
10-101567954-A-C p.Met595Leu missense ABCC2 2 83334 2.39998E-5 41667 0 8.23696E-6
10-101567958-T-C p.Leu596Pro missense ABCC2 1 83322 1.20016E-5 41661 0 8.23683E-6
10-101567963-A-G p.Met598Val missense ABCC2 1 83308 1.20036E-5 41654 0 3.18573E-5
10-101567966-A-G p.Met599Val missense ABCC2 1 83308 1.20036E-5 41654 0 1.19397E-5
10-101567983-C-T p.Leu604Leu synonymous ABCC2 2 83232 2.40292E-5 41616 0 NA
10-101567990-G-A c.1815+4G>A splice_region ABCC2 44 83212 5.2877E-4 41606 0 0.00279251
10-101567994-G-A c.1815+8G>A splice_region ABCC2 4 83176 4.80908E-5 41588 0 8.75922E-5
10-101569902-C-G p.Ser609Ser synonymous ABCC2 1 83070 1.2038E-5 41535 0 NA
10-101569909-C-A p.Arg612Arg synonymous ABCC2 2 83082 2.40726E-5 41541 0 5.03525E-4
10-101569910-G-A p.Arg612Gln missense ABCC2 2 83092 2.40697E-5 41546 0 3.18634E-5
10-101569917-G-A p.Glu614Glu synonymous ABCC2 1 83136 1.20285E-5 41568 0 1.65071E-4
10-101569920-G-A p.Lys615Lys synonymous ABCC2 6 83132 7.21744E-5 41566 0 9.55536E-5
10-101569929-AG-A p.Asp620fs frameshift ABCC2 1 83138 1.20282E-5 41569 0 8.24769E-6
10-101569930-G-T p.Gly619Trp missense ABCC2 2 83166 2.40483E-5 41583 0 3.18532E-5
10-101569935-T-A p.Asp620Glu missense ABCC2 70 83168 8.4167E-4 41584 0 7.32484E-4
10-101569936-G-A p.Asp621Asn missense ABCC2 4 83174 4.8092E-5 41587 0 NA
10-101569953-C-A p.Ala626Ala synonymous ABCC2 1 83154 1.20259E-5 41577 0 NA
10-101569953-C-T p.Ala626Ala synonymous ABCC2 2 83154 2.40518E-5 41577 0 NA
10-101569958-G-A p.Arg628Gln missense ABCC2 4 83136 4.81139E-5 41568 0 5.03525E-4
10-101569963-G-A p.Asp630Asn missense ABCC2 1 83132 1.20291E-5 41566 0 NA
10-101569964-A-T p.Asp630Val missense ABCC2 3 83120 3.60924E-5 41560 0 NA
10-101569968-C-A p.Cys631* stop_gained ABCC2 1 83092 1.20349E-5 41546 0 3.18532E-5
10-101571288-A-C c.1901-5A>C splice_region ABCC2 1 82962 1.20537E-5 41481 0 4.94747E-5
10-101571288-AACAG-A c.1901-4_1901-1delACAG splice_acceptor ABCC2 1 82962 1.20537E-5 41481 0 NA
10-101571297-A-G p.Lys635Lys synonymous ABCC2 2 82972 2.41045E-5 41486 0 NA
10-101571298-G-T p.Ala636Ser missense ABCC2 2 82964 2.41068E-5 41482 0 NA
10-101571331-G-C p.Glu647Gln missense ABCC2 2 82916 2.41208E-5 41458 0 1.2747E-4
10-101571341-C-T p.Ser650Leu missense ABCC2 1 82878 1.20659E-5 41439 0 4.9509E-5
10-101571342-G-A p.Ser650Ser synonymous ABCC2 4 82892 4.82556E-5 41446 0 2.23243E-4
10-101571353-T-C p.Val654Ala missense ABCC2 1 82814 1.20753E-5 41407 0 NA
10-101571355-C-T p.Arg655* stop_gained ABCC2 1 82798 1.20776E-5 41399 0 2.38987E-5
10-101571356-G-A p.Arg655Gln missense ABCC2 1 82794 1.20782E-5 41397 0 6.25E-4
10-101571357-A-G p.Arg655Arg splice_region+synonymous ABCC2 1 82780 1.20802E-5 41390 0 1.59336E-5
10-101571361-T-C c.1967+2T>C splice_donor ABCC2 1 82740 1.20861E-5 41370 0 6.37918E-5
10-101572774-G-C c.1968-1G>C splice_acceptor ABCC2 2 83170 2.40471E-5 41585 0 NA
10-101572785-G-A p.Asp660Asn missense ABCC2 1 83156 1.20256E-5 41578 0 8.23723E-6
10-101572790-T-G p.Ile661Met missense ABCC2 1 83152 1.20262E-5 41576 0 NA
10-101572798-G-C p.Gly664Ala missense ABCC2 1 83080 1.20366E-5 41540 0 6.25E-4
10-101572798-G-A p.Gly664Asp missense ABCC2 1 83082 1.20363E-5 41541 0 NA
10-101572802-A-G p.Gln665Gln synonymous ABCC2 1 82998 1.20485E-5 41499 0 3.98064E-6
10-101572816-T-C p.Ile670Thr missense ABCC2 143 82924 0.00172447 41462 0 0.00391645
10-101572826-C-T p.Val673Val synonymous ABCC2 1 82882 1.20653E-5 41441 0 1.64796E-5
10-101572827-G-A p.Gly674Ser missense ABCC2 10 82862 1.20683E-4 41431 0 9.55718E-5
10-101572880-C-A p.Val691Val synonymous ABCC2 49 82742 5.92202E-4 41371 0 0.00133801
10-101572883-C-T p.His692His synonymous ABCC2 2 82728 2.41756E-5 41364 0 8.27541E-6
10-101572884-G-A p.Gly693Arg missense ABCC2 2 82714 2.41797E-5 41357 0 4.13928E-5
10-101572900-A-G p.Lys698Arg missense+splice_region ABCC2 24 82636 2.9043E-4 41318 0 0.00302115
10-101577059-A-G c.2095-6A>G splice_region ABCC2 113 83124 0.00135941 41562 0 0.019375
10-101577095-T-C p.Trp709Arg missense ABCC2 1 83144 1.20273E-5 41572 0 8.24226E-6
10-101577125-A-G p.Ile719Val missense ABCC2 1 83136 1.20285E-5 41568 0 3.18573E-5
10-101577127-C-T p.Ile719Ile synonymous ABCC2 1 83136 1.20285E-5 41568 0 NA
10-101577150-A-G p.Glu727Gly missense ABCC2 2 83128 2.40593E-5 41564 0 NA
10-101577170-C-T p.Leu734Leu synonymous ABCC2 1 83098 1.2034E-5 41549 0 3.97966E-6
10-101577179-T-C p.Cys737Arg missense ABCC2 2 83092 2.40697E-5 41546 0 2.54793E-4
10-101577180-G-A p.Cys737Tyr missense ABCC2 1 83086 1.20357E-5 41543 0 3.98013E-6
10-101577182-G-A p.Ala738Thr missense ABCC2 1 83088 1.20354E-5 41544 0 8.24171E-6
10-101577193-A-G p.Pro741Pro synonymous ABCC2 2 83072 2.40755E-5 41536 0 NA
10-101577216-G-T p.Gly749Val missense ABCC2 2 83000 2.40964E-5 41500 0 NA
10-101577218-G-C p.Asp750His missense ABCC2 5 83004 6.02381E-5 41502 0 2.47533E-5
10-101577238-G-A p.Glu756Glu synonymous ABCC2 1 82844 1.20709E-5 41422 0 NA
10-101578548-G-T p.Gly758Val missense+splice_region ABCC2 3 83150 3.60794E-5 41575 0 3.97981E-6
10-101578550-A-G p.Ile759Val missense ABCC2 8 83174 9.61839E-5 41587 0 3.18431E-5
10-101578554-A-G p.Asn760Ser missense ABCC2 2 83196 2.40396E-5 41598 0 3.29848E-5
10-101578561-T-TG p.Gln765fs frameshift ABCC2 1 83234 1.20143E-5 41617 0 8.24429E-6
10-101578564-G-A p.Gly763Gly synonymous ABCC2 1 83246 1.20126E-5 41623 0 3.18552E-5
10-101578568-C-T p.Gln765* stop_gained ABCC2 2 83256 2.40223E-5 41628 1 NA
10-101578577-C-T p.Arg768Trp missense ABCC2 7 83264 8.40699E-5 41632 0 6.25391E-4
10-101578578-G-A p.Arg768Gln missense ABCC2 2 83272 2.40177E-5 41636 0 3.18299E-5
10-101578580-A-G p.Ile769Val missense ABCC2 1 83280 1.20077E-5 41640 0 NA
10-101578582-C-T p.Ile769Ile synonymous ABCC2 1 83282 1.20074E-5 41641 0 3.18451E-5
10-101578594-A-G p.Arg773Arg synonymous ABCC2 1 83298 1.20051E-5 41649 0 3.1837E-5
10-101578598-AC-A p.Tyr776fs frameshift ABCC2 1 83302 1.20045E-5 41651 0 3.97864E-6
10-101578603-C-T p.Tyr776Tyr synonymous ABCC2 30 83300 3.60144E-4 41650 0 1.64897E-4
10-101578620-A-G p.Tyr782Cys missense ABCC2 1 83282 1.20074E-5 41641 0 3.18302E-5
10-101578631-G-A p.Asp786Asn missense ABCC2 1 83264 1.201E-5 41632 0 NA
10-101578636-CCT-C p.Leu788fs frameshift ABCC2 1 83254 1.20114E-5 41627 0 7.42317E-5
10-101578641-C-T p.Ser789Phe missense ABCC2 11 83266 1.32107E-4 41633 0 6.84638E-4
10-101578643-G-T p.Ala790Ser missense ABCC2 1 83256 1.20111E-5 41628 0 3.98007E-6
10-101578655-C-T p.His794Tyr missense ABCC2 6 83238 7.20825E-5 41619 0 7.16686E-5
10-101578667-CAT-C p.Ile799fs frameshift ABCC2 1 83192 1.20204E-5 41596 0 NA
10-101578683-T-C p.Val803Ala missense ABCC2 20 83142 2.40552E-4 41571 0 2.22973E-4
10-101578695-A-G p.Asn807Ser missense ABCC2 3 83116 3.60941E-5 41558 0 5.9751E-5
10-101578697-G-A p.Gly808Ser missense ABCC2 7 83108 8.42278E-5 41554 0 1.19511E-5
10-101578700-CT-C p.Leu809fs frameshift ABCC2 2 83104 2.40662E-5 41552 0 3.18552E-5
10-101578716-T-C c.2439+2T>C splice_donor ABCC2 1 83082 1.20363E-5 41541 0 1.65155E-5
10-101578849-C-T p.Arg815* stop_gained ABCC2 1 83126 1.20299E-5 41563 0 3.58095E-5
10-101578861-A-G p.Thr819Ala missense ABCC2 2 83118 2.40622E-5 41559 0 8.23832E-6
10-101578867-A-G p.Ser821Gly missense ABCC2 16 83090 1.92562E-4 41545 0 6.25E-4
10-101578875-C-G p.His823Gln missense ABCC2 1 83074 1.20375E-5 41537 0 NA
10-101578883-C-T p.Pro826Leu missense ABCC2 2 83022 2.409E-5 41511 0 4.94275E-5
10-101578888-G-A p.Val828Met missense ABCC2 3 83012 3.61394E-5 41506 0 6.36821E-5
10-101578898-T-C p.Ile831Thr missense ABCC2 3 82978 3.61542E-5 41489 0 5.57316E-5
10-101578905-T-C p.Val833Val synonymous ABCC2 7 82944 8.43943E-5 41472 0 3.50274E-4
10-101578910-G-A p.Gly835Glu missense ABCC2 5 82926 6.02947E-5 41463 0 3.18547E-5
10-101578915-G-T p.Gly837* stop_gained ABCC2 1 82864 1.2068E-5 41432 0 8.24131E-6
10-101578918-A-G p.Thr838Ala missense ABCC2 1 82844 1.20709E-5 41422 0 NA
10-101578926-A-G p.Val840Val synonymous ABCC2 5 82758 6.04171E-5 41379 0 3.18471E-5
10-101578930-A-G p.Lys842Glu missense ABCC2 1 82744 1.20855E-5 41372 0 NA
10-101578952-T-G p.Leu849Arg missense ABCC2 1219 82530 0.0147704 41265 13 0.0164507
10-101578956-C-G p.Ala850Ala synonymous ABCC2 2 82528 2.42342E-5 41264 0 6.47082E-5
10-101578963-G-A p.Gly853Arg missense ABCC2 1 82500 1.21212E-5 41250 0 3.18431E-5
10-101578968-G-C p.Glu854Asp missense ABCC2 1 82454 1.2128E-5 41227 0 NA
10-101578984-A-T p.Lys860* stop_gained ABCC2 1 82422 1.21327E-5 41211 0 8.26296E-6
10-101578988-C-G p.Thr861Arg missense ABCC2 1 82408 1.21347E-5 41204 0 3.98934E-6
10-101578994-T-C p.Leu863Pro missense ABCC2 2 82388 2.42754E-5 41194 0 4.96106E-5
10-101578999-C-T p.His865Tyr missense ABCC2 2 82388 2.42754E-5 41194 0 NA
10-101579014-GA-G p.Glu870fs frameshift ABCC2 2 82398 2.42724E-5 41199 0 3.18451E-5
10-101579016-G-A p.Glu870Glu synonymous ABCC2 1 82398 1.21362E-5 41199 0 8.28185E-6
10-101579019-A-G p.Glu871Glu synonymous ABCC2 73 82390 8.8603E-4 41195 0 0.00375
10-101579026-G-T p.Val874Phe missense+splice_region ABCC2 1 82348 1.21436E-5 41174 0 8.28816E-6
10-101579029-A-G c.2620+3A>G splice_region ABCC2 4 82336 4.85814E-5 41168 0 1.82388E-4
10-101579032-TAAG-T c.2620+7_2620+9delAAG splice_region ABCC2 66 82332 8.01632E-4 41166 1 3.28747E-4
10-101590060-C-T c.2621-4C>T splice_region ABCC2 1 83328 1.20008E-5 41664 0 NA
10-101590075-A-G p.Ser878Gly missense ABCC2 1 83352 1.19973E-5 41676 0 NA
10-101590080-A-G p.Glu879Glu synonymous ABCC2 1 83352 1.19973E-5 41676 0 3.97668E-6
10-101590086-A-C p.Glu881Asp missense ABCC2 7 83370 8.39631E-5 41685 0 7.41363E-5
10-101590092-T-C p.Asp883Asp synonymous ABCC2 4 83388 4.79685E-5 41694 0 1.89447E-4
10-101590111-A-G p.Ser890Gly missense ABCC2 1 83384 1.19927E-5 41692 0 NA
10-101590112-G-T p.Ser890Ile missense ABCC2 2 83384 2.39854E-5 41692 0 3.1837E-5
10-101590112-G-A p.Ser890Asn missense ABCC2 5 83384 5.99635E-5 41692 0 8.23642E-6
10-101590116-G-A p.Val891Val synonymous ABCC2 1 83382 1.1993E-5 41691 0 NA
10-101590120-G-A p.Glu893Lys missense ABCC2 1 83380 1.19933E-5 41690 0 8.23655E-6
10-101590126-C-G p.Pro895Ala missense ABCC2 1 83382 1.1993E-5 41691 0 NA
10-101590128-C-T p.Pro895Pro synonymous ABCC2 1 83386 1.19924E-5 41693 0 4.374E-5
10-101590129-G-A p.Glu896Lys missense ABCC2 5 83384 5.99635E-5 41692 0 6.58924E-5
10-101590141-T-G p.Ser900Ala missense ABCC2 2 83392 2.39831E-5 41696 0 NA
10-101590143-C-T p.Ser900Ser synonymous ABCC2 2 83394 2.39825E-5 41697 0 3.97627E-6
10-101590157-G-T p.Arg905Ile missense ABCC2 13 83386 1.55901E-4 41693 0 4.94201E-5
10-101590157-G-A p.Arg905Lys missense ABCC2 7 83388 8.39449E-5 41694 0 2.02795E-4
10-101590158-A-T p.Arg905Ser missense ABCC2 1 83386 1.19924E-5 41693 0 6.58924E-5
10-101590165-A-T p.Ser908Cys missense ABCC2 1 83384 1.19927E-5 41692 0 NA
10-101590166-G-A p.Ser908Asn missense ABCC2 9 83386 1.07932E-4 41693 0 1.64734E-5
10-101590167-C-T p.Ser908Ser synonymous ABCC2 1 83390 1.19918E-5 41695 0 NA
10-101590171-C-T p.Arg910Cys missense ABCC2 3 83388 3.59764E-5 41694 0 6.36943E-5
10-101590172-G-A p.Arg910His missense ABCC2 2 83384 2.39854E-5 41692 0 1.2738E-4
10-101590175-G-A p.Arg911Gln missense ABCC2 3 83386 3.59773E-5 41693 1 5.96464E-5
10-101590180-C-G p.Leu913Val missense ABCC2 1 83372 1.19944E-5 41686 0 3.97646E-6
10-101590186-C-T p.Arg915Cys missense ABCC2 61 83370 7.31678E-4 41685 0 0.00151057
10-101590187-G-A p.Arg915His missense ABCC2 3 83372 3.59833E-5 41686 0 3.29495E-5
10-101590189-A-G p.Ser916Gly missense+splice_region ABCC2 4 83376 4.79754E-5 41688 0 1.27364E-4
10-101590195-G-A c.2747+5G>A splice_region ABCC2 15 83370 1.79921E-4 41685 0 8.58997E-4
10-101590467-T-G c.2748-6T>G splice_region ABCC2 1 83216 1.20169E-5 41608 0 3.18471E-5
10-101590472-G-T c.2748-1G>T splice_acceptor ABCC2 2 83240 2.40269E-5 41620 0 3.18451E-5
10-101590480-T-A p.Ser919Thr missense ABCC2 1 83252 1.20117E-5 41626 0 1.98864E-5
10-101590486-G-A p.Gly921Ser missense ABCC2 771 83264 0.0092597 41632 7 0.00776384
10-101590523-C-T p.Thr933Ile missense ABCC2 1 83234 1.20143E-5 41617 0 3.1841E-5
10-101590525-C-T p.Arg934Trp missense ABCC2 2 83224 2.40315E-5 41612 0 2.4775E-5
10-101590526-G-A p.Arg934Gln missense ABCC2 28 83222 3.3645E-4 41611 0 5.03525E-4
10-101590536-T-C p.Asn937Asn synonymous ABCC2 1 83200 1.20192E-5 41600 0 NA
10-101590538-G-A p.Ser938Asn missense ABCC2 50 83206 6.00918E-4 41603 0 0.00140092
10-101590545-G-A p.Lys940Lys synonymous ABCC2 1 83168 1.20239E-5 41584 0 NA
10-101590549-G-A p.Asp942Asn missense ABCC2 3 83168 3.60716E-5 41584 0 NA
10-101590551-C-T p.Asp942Asp synonymous ABCC2 5 83162 6.01236E-5 41581 0 3.58183E-5
10-101590552-G-A p.Glu943Lys missense ABCC2 2 83160 2.405E-5 41580 0 3.97969E-5
10-101590560-A-G p.Leu945Leu synonymous ABCC2 1 83086 1.20357E-5 41543 0 3.1837E-5
10-101591385-C-A p.Tyr967* stop_gained ABCC2 2 83286 2.40136E-5 41643 0 3.18471E-5
10-101591404-A-G p.Ile974Val missense ABCC2 2 83298 2.40102E-5 41649 0 1.98839E-5
10-101591405-T-G p.Ile974Arg missense ABCC2 1 83298 1.20051E-5 41649 0 3.97678E-6
10-101591417-C-T p.Ser978Leu missense ABCC2 1 83292 1.2006E-5 41646 0 8.23669E-6
10-101591418-G-A p.Ser978Ser synonymous ABCC2 64 83296 7.68344E-4 41648 0 0.001875
10-101591418-G-T p.Ser978Ser synonymous ABCC2 1 83296 1.20054E-5 41648 0 NA
10-101591422-T-G p.Phe980Val missense ABCC2 1 83298 1.20051E-5 41649 0 NA
10-101591426-T-C p.Phe981Ser missense ABCC2 1 83298 1.20051E-5 41649 0 3.18329E-5
10-101591428-A-G p.Ile982Val missense ABCC2 51 83300 6.12245E-4 41650 0 0.00140065
10-101591428-A-C p.Ile982Leu missense ABCC2 1 83300 1.20048E-5 41650 0 NA
10-101591438-C-T p.Ala985Val missense ABCC2 4 83308 4.80146E-5 41654 0 1.19299E-5
10-101591438-C-A p.Ala985Glu missense ABCC2 2 83308 2.40073E-5 41654 0 NA
10-101591439-G-A p.Ala985Ala synonymous ABCC2 20 83308 2.40073E-4 41654 0 5.73029E-4
10-101591442-T-A p.Phe986Leu missense ABCC2 1 83314 1.20028E-5 41657 0 NA
10-101591447-T-A p.Met988Lys missense ABCC2 2 83314 2.40056E-5 41657 0 2.06779E-4
10-101591447-T-C p.Met988Thr missense ABCC2 2 83314 2.40056E-5 41657 0 NA
10-101591448-G-T p.Met988Ile missense ABCC2 3 83318 3.60066E-5 41659 0 1.59185E-4
10-101591458-G-A p.Ala992Thr missense ABCC2 1 83320 1.20019E-5 41660 0 1.19297E-5
10-101591491-T-A p.Trp1003Arg missense ABCC2 3 83304 3.60127E-5 41652 0 5.03525E-4
10-101591492-G-T p.Trp1003Leu missense ABCC2 32 83304 3.84135E-4 41652 0 2.96516E-4
10-101591493-G-A p.Trp1003* stop_gained ABCC2 3 83300 3.60144E-5 41650 0 NA
10-101591495-C-T p.Thr1004Ile missense ABCC2 3 83292 3.60179E-5 41646 0 5.03525E-4
10-101591501-ACT-A p.Ser1007fs frameshift ABCC2 1 83288 1.20065E-5 41644 0 7.95406E-6
10-101591505-T-C p.Ser1007Ser synonymous ABCC2 1 83280 1.20077E-5 41640 0 NA
10-101591510-T-C p.Ile1009Thr missense ABCC2 37 83280 4.44284E-4 41640 1 0.00136908
10-101591524-G-A p.Asp1014Asn missense ABCC2 1 83256 1.20111E-5 41628 0 1.59093E-5
10-101591525-A-C p.Asp1014Ala missense ABCC2 1 83252 1.20117E-5 41626 0 NA
10-101591541-G-C p.Gln1019His missense ABCC2 84 83232 0.00100923 41616 0 0.005625
10-101591544-G-A p.Arg1020Arg synonymous ABCC2 6 83210 7.21067E-5 41605 0 7.41327E-5
10-101591545-G-C p.Asp1021His missense ABCC2 1 83208 1.20181E-5 41604 0 8.23696E-6
10-101591552-G-T p.Arg1023Ile missense ABCC2 1 83218 1.20166E-5 41609 0 1.64739E-5
10-101591566-G-A p.Gly1028Arg missense ABCC2 8 83146 9.62163E-5 41573 1 5.03525E-4
10-101591733-G-A c.3104-1G>A splice_acceptor ABCC2 1 83342 1.19988E-5 41671 0 NA
10-101591737-T-C p.Ile1036Thr missense ABCC2 608 83342 0.00729524 41671 2 0.00805639
10-101591766-G-C p.Ala1046Pro missense ABCC2 5 83362 5.99794E-5 41681 0 3.1837E-5
10-101591777-C-T p.Phe1049Phe synonymous ABCC2 2 83358 2.39929E-5 41679 0 3.1841E-5
10-101591778-G-A p.Val1050Ile missense ABCC2 12 83364 1.43947E-4 41682 0 9.55171E-5
10-101591779-T-C p.Val1050Ala missense ABCC2 3 83364 3.59868E-5 41682 0 7.41278E-5
10-101591797-T-C p.Leu1056Ser missense ABCC2 1 83364 1.19956E-5 41682 0 3.1835E-5
10-101591799-C-T p.His1057Tyr missense ABCC2 1 83364 1.19956E-5 41682 0 NA
10-101591801-C-G p.His1057Gln missense ABCC2 1 83366 1.19953E-5 41683 0 7.95292E-6
10-101591807-A-G p.Gln1059Gln synonymous ABCC2 1 83366 1.19953E-5 41683 0 3.9764E-6
10-101591808-C-A p.Leu1060Met missense ABCC2 1 83366 1.19953E-5 41683 0 NA
10-101591818-A-G p.Asn1063Ser missense ABCC2 52 83370 6.23726E-4 41685 0 0.00152837
10-101591818-A-C p.Asn1063Thr missense ABCC2 2 83370 2.39894E-5 41685 0 NA
10-101591826-C-T p.Arg1066* stop_gained ABCC2 41 83374 4.9176E-4 41687 0 4.21501E-4
10-101591829-G-T p.Ala1067Ser missense ABCC2 1 83374 1.19941E-5 41687 0 NA
10-101591840-A-G p.Arg1070Arg synonymous ABCC2 1 83366 1.19953E-5 41683 0 7.95286E-6
10-101591840-A-AT p.Asp1073fs frameshift ABCC2 2 83366 2.39906E-5 41683 0 1.98821E-5
10-101591856-C-T p.Pro1076Ser missense ABCC2 1 83346 1.19982E-5 41673 0 7.95292E-6
10-101591861-A-G p.Thr1077Thr synonymous ABCC2 1 83346 1.19982E-5 41673 0 1.19294E-5
10-101591864-C-T p.Gly1078Gly synonymous ABCC2 2 83340 2.39981E-5 41670 0 NA
10-101591866-G-A p.Arg1079Gln missense ABCC2 45 83340 5.39957E-4 41670 0 6.42652E-4
10-101591869-T-C p.Ile1080Thr missense ABCC2 8 83338 9.59946E-5 41669 0 1.15354E-4
10-101591885-C-T p.Ala1085Ala synonymous ABCC2 2 83302 2.4009E-5 41651 0 8.2462E-6
10-101591888-C-T p.Gly1086Gly splice_region+synonymous ABCC2 8 83282 9.60592E-5 41641 0 5.03525E-4
10-101591889-G-A c.3258+1G>A splice_donor ABCC2 12 83284 1.44085E-4 41642 0 7.55605E-5
10-101591896-T-C c.3258+8T>C splice_region ABCC2 2 83258 2.40217E-5 41629 0 4.95139E-5
10-101594134-T-C c.3259-3T>C splice_region ABCC2 1 83242 1.20132E-5 41621 0 NA
10-101594149-G-A p.Val1091Met missense ABCC2 3 83316 3.60075E-5 41658 0 7.95513E-6
10-101594150-T-C p.Val1091Ala missense ABCC2 6 83316 7.2015E-5 41658 0 3.97753E-5
10-101594155-G-C p.Asp1093His missense ABCC2 1 83336 1.19996E-5 41668 0 NA
10-101594157-C-T p.Asp1093Asp synonymous ABCC2 1 83332 1.20002E-5 41666 0 3.18695E-5
10-101594165-C-T p.Pro1096Leu missense ABCC2 3 83350 3.59928E-5 41675 0 6.25E-4
10-101594176-C-T p.Arg1100Cys missense ABCC2 84 83358 0.0010077 41679 0 6.25E-4
10-101594176-C-A p.Arg1100Ser missense ABCC2 23 83360 2.75912E-4 41680 0 1.11341E-4
10-101594177-G-A p.Arg1100His missense ABCC2 2 83358 2.39929E-5 41679 0 3.5789E-5
10-101594195-T-C p.Phe1106Ser missense ABCC2 1 83374 1.19941E-5 41687 0 NA
10-101594210-G-A p.Ser1111Asn missense ABCC2 6 83382 7.1958E-5 41691 0 5.03525E-4
10-101594213-C-A p.Thr1112Asn missense ABCC2 1 83384 1.19927E-5 41692 0 1.59052E-5
10-101594214-C-T p.Thr1112Thr synonymous ABCC2 1 83384 1.19927E-5 41692 0 NA
10-101594219-T-C p.Val1114Ala missense ABCC2 3 83396 3.59729E-5 41698 0 3.97627E-6
10-101594230-A-C p.Met1118Leu missense ABCC2 3 83396 3.59729E-5 41698 0 3.18451E-5
10-101594232-G-A p.Met1118Ile missense ABCC2 1 83396 1.1991E-5 41698 0 NA
10-101594235-C-T p.Ala1119Ala synonymous ABCC2 23 83390 2.75812E-4 41695 0 2.10744E-4
10-101594237-C-T p.Thr1120Ile missense ABCC2 1 83392 1.19916E-5 41696 0 NA
10-101594243-T-A p.Val1122Asp missense ABCC2 3 83388 3.59764E-5 41694 0 NA
10-101594248-A-G p.Thr1124Ala missense ABCC2 1 83390 1.19918E-5 41695 0 3.18102E-5
10-101594249-C-T p.Thr1124Ile missense ABCC2 1 83390 1.19918E-5 41695 0 3.97627E-6
10-101594256-C-T p.Ile1126Ile synonymous ABCC2 1 83390 1.19918E-5 41695 0 NA
10-101594256-C-G p.Ile1126Met missense ABCC2 1 83390 1.19918E-5 41695 0 1.64731E-5
10-101594257-G-A p.Val1127Ile missense ABCC2 19 83392 2.2784E-4 41696 0 0.00125
10-101594258-T-A p.Val1127Asp missense ABCC2 1 83390 1.19918E-5 41695 0 6.25E-4
10-101594258-T-C p.Val1127Ala missense ABCC2 1 83390 1.19918E-5 41695 0 8.23655E-6
10-101594271-C-T p.Gly1131Gly synonymous ABCC2 3 83390 3.59755E-5 41695 0 3.57864E-5
10-101594274-T-C p.Ile1132Ile synonymous ABCC2 362 83380 0.00434157 41690 4 0.01125
10-101594275-ATT-A p.Tyr1134fs frameshift ABCC2 3 83388 3.59764E-5 41694 0 3.97627E-6
10-101594278-T-C p.Tyr1134His missense ABCC2 2 83382 2.3986E-5 41691 0 NA
10-101594286-T-C p.Ser1136Ser synonymous ABCC2 1 83362 1.19959E-5 41681 0 NA
10-101595842-G-A c.3415-6G>A splice_region ABCC2 1 82984 1.20505E-5 41492 0 NA
10-101595844-C-G c.3415-4C>G splice_region ABCC2 1 83044 1.20418E-5 41522 0 NA
10-101595848-ATG-A p.Met1139fs frameshift ABCC2 1 83134 1.20288E-5 41567 0 NA
10-101595869-C-T p.Arg1146Cys missense ABCC2 5 83310 6.00168E-5 41655 0 1.23642E-4
10-101595870-G-A p.Arg1146His missense ABCC2 3 83306 3.60118E-5 41653 0 6.37064E-5
10-101595882-G-A p.Arg1150His missense ABCC2 3 83340 3.59971E-5 41670 0 1.27389E-4
10-101595884-C-A p.Leu1151Met missense ABCC2 1 83340 1.1999E-5 41670 0 3.9763E-6
10-101595888-A-C p.Asp1152Ala missense ABCC2 1 83352 1.19973E-5 41676 0 3.97627E-6
10-101595895-CA-C p.Thr1155fs frameshift ABCC2 2 83358 2.39929E-5 41679 0 3.97624E-6
10-101595900-G-A p.Arg1156Lys missense ABCC2 2 83360 2.39923E-5 41680 0 3.18492E-5
10-101595902-TCC-T p.Pro1158fs frameshift ABCC2 1 83358 1.19964E-5 41679 0 8.23764E-6
10-101595908-A-G p.Ile1159Val missense ABCC2 2 83364 2.39912E-5 41682 0 6.36983E-5
10-101595925-C-T p.Ser1164Ser synonymous ABCC2 92 83360 0.00110365 41680 1 0.00151057
10-101595926-G-A p.Glu1165Lys missense ABCC2 1 83360 1.19962E-5 41680 0 1.64745E-5
10-101595930-C-A p.Thr1166Asn missense ABCC2 3 83354 3.59911E-5 41677 0 NA
10-101595931-C-T p.Thr1166Thr synonymous ABCC2 1 83358 1.19964E-5 41679 0 6.25E-4
10-101595932-G-A p.Val1167Ile missense ABCC2 2 83362 2.39917E-5 41681 0 6.36902E-5
10-101595933-T-C p.Val1167Ala missense ABCC2 77 83358 9.23727E-4 41679 0 0.0125
10-101595939-GT-G p.Leu1170fs frameshift ABCC2 2 83356 2.39935E-5 41678 0 NA
10-101595940-T-C p.Gly1169Gly synonymous ABCC2 1 83354 1.1997E-5 41677 0 NA
10-101595950-A-T p.Ile1173Phe missense ABCC2 6 83368 7.19701E-5 41684 0 0.00125
10-101595954-G-A p.Arg1174His missense ABCC2 28 83366 3.35868E-4 41683 0 6.25E-4
10-101595968-C-G p.Gln1179Glu missense ABCC2 2 83352 2.39946E-5 41676 0 NA
10-101595974-C-T p.Arg1181* stop_gained ABCC2 1 83336 1.19996E-5 41668 0 1.59056E-5
10-101595975-G-T p.Arg1181Leu missense ABCC2 1201 83316 0.014415 41658 56 0.0258093
10-101595975-G-A p.Arg1181Gln missense ABCC2 22 83334 2.63998E-4 41667 0 4.28322E-4
10-101595977-T-C p.Phe1182Leu missense ABCC2 2 83336 2.39992E-5 41668 0 4.9421E-5
10-101595980-C-A p.Leu1183Met missense ABCC2 14 83348 1.6797E-4 41674 0 6.25E-4
10-101595980-C-T p.Leu1183Leu synonymous ABCC2 1 83348 1.19979E-5 41674 0 NA
10-101595990-A-G p.Asn1186Ser missense ABCC2 1 83340 1.1999E-5 41670 0 1.64742E-5
10-101595994-G-A p.Glu1187Glu synonymous ABCC2 28 83336 3.35989E-4 41668 0 5.41298E-4
10-101595996-T-A p.Val1188Glu missense ABCC2 5846 83264 0.0702104 41632 275 0.121349
10-101596009-C-G p.Thr1192Thr synonymous ABCC2 21 83338 2.51986E-4 41669 0 7.414E-5
10-101596019-T-G p.Cys1196Gly missense ABCC2 1 83322 1.20016E-5 41661 0 8.23845E-6
10-101596038-C-G p.Thr1202Ser missense ABCC2 4 83292 4.80238E-5 41646 0 5.03525E-4
10-101596041-C-G p.Ser1203Cys missense ABCC2 1 83288 1.20065E-5 41644 0 6.25E-4
10-101596053-G-C c.3614+6G>C splice_region ABCC2 41 83234 4.92587E-4 41617 0 9.87261E-4
10-101601713-TTGCCC-T c.3615-10_3615-6delTGCCC splice_region ABCC2 6 83248 7.20738E-5 41624 0 NA
10-101601717-CC-TT c.3615-7_3615-6delCCinsTT splice_region ABCC2 1 83264 1.201E-5 41632 0 NA
10-101601720-A-G c.3615-4A>G splice_region ABCC2 1 83274 1.20085E-5 41637 0 9.55414E-5
10-101601724-G-A p.Arg1205Arg splice_region+synonymous ABCC2 6 83292 7.20357E-5 41646 0 3.18451E-5
10-101601734-A-G p.Ile1209Val missense ABCC2 1 83318 1.20022E-5 41659 0 NA
10-101601738-G-A p.Arg1210His missense ABCC2 2 83322 2.40033E-5 41661 0 5.16952E-5
10-101601744-A-G p.Glu1212Gly missense ABCC2 11 83344 1.31983E-4 41672 0 NA
10-101601750-T-C p.Val1214Ala missense ABCC2 3 83348 3.59937E-5 41674 0 2.78359E-5
10-101601756-A-T p.Asn1216Ile missense ABCC2 1 83352 1.19973E-5 41676 0 7.95298E-6
10-101601757-C-A p.Asn1216Lys missense ABCC2 29 83352 3.47922E-4 41676 0 3.82214E-4
10-101601757-C-T p.Asn1216Asn synonymous ABCC2 1 83352 1.19973E-5 41676 0 3.29603E-5
10-101601759-T-C p.Leu1217Pro missense ABCC2 1 83348 1.19979E-5 41674 0 NA
10-101601775-A-G p.Ser1222Ser synonymous ABCC2 1 83366 1.19953E-5 41683 0 NA
10-101601799-A-C p.Arg1230Ser missense ABCC2 5 83352 5.99866E-5 41676 0 5.96459E-5
10-101601807-T-A p.Leu1233Gln missense ABCC2 1 83348 1.19979E-5 41674 0 NA
10-101601840-A-G p.Asn1244Ser missense ABCC2 1 83314 1.20028E-5 41657 0 3.29516E-5
10-101601841-T-G p.Asn1244Lys missense ABCC2 3 83312 3.60092E-5 41656 0 6.36821E-5
10-101601851-G-A c.3741+1G>A splice_donor ABCC2 8 83298 9.60407E-5 41649 0 3.1841E-5
10-101601851-G-T c.3741+1G>T splice_donor ABCC2 1 83298 1.20051E-5 41649 0 4.94283E-5
10-101603573-C-T p.Asn1253Asn synonymous ABCC2 3 83356 3.59902E-5 41678 0 6.25E-4
10-101603582-G-A p.Val1256Val synonymous ABCC2 1 83380 1.19933E-5 41690 0 3.97636E-6
10-101603610-A-G p.Ile1266Val missense ABCC2 3 83378 3.59807E-5 41689 0 9.14542E-5
10-101603626-G-A p.Arg1271Gln missense ABCC2 1 83350 1.19976E-5 41675 0 3.29484E-5
10-101603629-T-C p.Ile1272Thr missense ABCC2 1 83354 1.1997E-5 41677 0 NA
10-101603631-A-G p.Thr1273Ala missense ABCC2 127 83348 0.00152373 41674 1 0.00340786
10-101603639-C-G p.Tyr1275* stop_gained ABCC2 1 83318 1.20022E-5 41659 0 9.55657E-5
10-101603648-G-A p.Val1278Val synonymous ABCC2 14 83322 1.68023E-4 41661 0 6.25E-4
10-101604088-G-GTGAC p.Lys1288fs frameshift ABCC2 1 83276 1.20083E-5 41638 0 3.97659E-6
10-101604093-T-G p.Thr1286Thr synonymous ABCC2 2 83300 2.40096E-5 41650 0 NA
10-101604102-G-C p.Arg1289Ser missense ABCC2 1 83300 1.20048E-5 41650 0 3.97659E-6
10-101604102-G-T p.Arg1289Ser missense ABCC2 1 83300 1.20048E-5 41650 0 8.23764E-6
10-101604107-C-T p.Pro1291Leu missense ABCC2 416 83296 0.00499424 41648 10 0.0131048
10-101604109-C-G p.Pro1292Ala missense ABCC2 2 83296 2.40108E-5 41648 0 2.47125E-5
10-101604123-C-G p.Ser1296Arg missense ABCC2 1 83326 1.20011E-5 41663 0 6.36902E-5
10-101604127-G-A p.Gly1298Ser missense ABCC2 2 83334 2.39998E-5 41667 1 4.11868E-5
10-101604147-C-G p.Asn1304Lys missense ABCC2 2 83336 2.39992E-5 41668 0 3.97659E-6
10-101604153-A-C p.Gln1306His missense ABCC2 1 83334 1.19999E-5 41667 0 3.97646E-6
10-101604157-C-T p.Arg1308Trp missense ABCC2 1 83330 1.20005E-5 41665 0 6.3678E-5
10-101604158-G-T p.Arg1308Leu missense ABCC2 2 83338 2.39987E-5 41669 0 3.29495E-5
10-101604158-G-A p.Arg1308Gln missense ABCC2 4 83338 4.79973E-5 41669 0 9.55171E-5
10-101604162-C-T p.Tyr1309Tyr synonymous ABCC2 2 83340 2.39981E-5 41670 0 2.05941E-4
10-101604165-A-G p.Arg1310Arg synonymous ABCC2 1 83330 1.20005E-5 41665 0 NA
10-101604181-G-T p.Val1316Phe missense ABCC2 1 83300 1.20048E-5 41650 0 1.19337E-5
10-101604206-TC-AT p.Ile1324Asn missense ABCC2 1 83250 1.2012E-5 41625 0 NA
10-101604207-C-T p.Ile1324Ile synonymous ABCC2 27582 82020 0.336284 41010 4630 0.349375
10-101604207-C-G p.Ile1324Met missense ABCC2 1 83242 1.20132E-5 41621 0 6.38244E-5
10-101604208-G-A p.Gly1325Ser missense ABCC2 21 83236 2.52295E-4 41618 1 0.00655242
10-101604230-G-C c.3987+8G>C splice_region ABCC2 1 83034 1.20433E-5 41517 0 4.00657E-6
10-101605376-C-T c.3988-5C>T splice_region ABCC2 5 83376 5.99693E-5 41688 0 9.5584E-5
10-101605380-G-A c.3988-1G>A splice_acceptor ABCC2 3 83388 3.59764E-5 41694 0 3.9763E-6
10-101605381-A-T p.Ile1330Phe missense+splice_region ABCC2 1 83386 1.19924E-5 41693 0 NA
10-101605384-G-A p.Gly1331Ser missense ABCC2 2 83388 2.39843E-5 41694 0 3.18532E-5
10-101605393-G-A p.Gly1334Ser missense ABCC2 2 83390 2.39837E-5 41695 0 3.97624E-6
10-101605396-A-G p.Arg1335Gly missense ABCC2 1 83392 1.19916E-5 41696 0 NA
10-101605398-G-T p.Arg1335Ser missense ABCC2 1 83396 1.1991E-5 41698 0 NA
10-101605432-C-T p.Leu1347Phe missense ABCC2 3 83396 3.59729E-5 41698 0 1.19287E-5
10-101605433-T-C p.Leu1347Pro missense ABCC2 7 83398 8.39349E-5 41699 0 5.76682E-5
10-101605439-G-C p.Arg1349Thr missense ABCC2 1 83396 1.1991E-5 41698 0 8.23886E-6
10-101605448-A-C p.Glu1352Ala missense ABCC2 1 83396 1.1991E-5 41698 0 NA
10-101605455-C-T p.Ala1354Ala synonymous ABCC2 528 83366 0.00633352 41683 13 0.0150539
10-101605459-GG-CA p.Gly1356His missense ABCC2 1 83378 1.19936E-5 41689 0 NA
10-101605464-G-C p.Gln1357His missense ABCC2 9 83368 1.07955E-4 41684 0 4.78011E-4
10-101605468-A-C p.Ile1359Leu missense ABCC2 18 83364 2.15921E-4 41682 0 3.50452E-4
10-101605472-T-C p.Ile1360Thr missense ABCC2 1 83362 1.19959E-5 41681 0 NA
10-101605481-T-C p.Val1363Ala missense ABCC2 9 83346 1.07984E-4 41673 0 1.67168E-5
10-101605486-A-G p.Ile1365Val missense ABCC2 1 83342 1.19988E-5 41671 0 6.39795E-5
10-101605486-A-C p.Ile1365Leu missense ABCC2 1 83342 1.19988E-5 41671 0 NA
10-101605496-T-C p.Ile1368Thr missense ABCC2 9 83298 1.08046E-4 41649 0 5.03525E-4
10-101605497-T-TTTTAATGATAC p.Gly1369fs frameshift ABCC2 1 83296 1.20054E-5 41648 0 NA
10-101605499-GGCTCCA-G p.Leu1370_His1371del disruptive_inframe_deletion ABCC2 1 83290 1.20062E-5 41645 0 NA
10-101605503-C-T p.Leu1370Leu synonymous ABCC2 1259 83270 0.0151195 41635 58 0.028848
10-101605507-G-A p.Asp1372Asn missense ABCC2 1 83264 1.201E-5 41632 0 9.09058E-6
10-101605511-T-A p.Leu1373His missense ABCC2 3 83238 3.60412E-5 41619 0 4.00327E-6
10-101605513-C-T p.Arg1374* stop_gained ABCC2 1 83234 1.20143E-5 41617 0 2.78634E-5
10-101605534-C-T p.Pro1381Ser missense ABCC2 1 83094 1.20346E-5 41547 0 1.03186E-5
10-101605545-C-T c.4146+6C>T splice_region ABCC2 2 82986 2.41005E-5 41493 0 NA
10-101606711-C-T c.4147-7C>T splice_region ABCC2 1 83240 1.20135E-5 41620 0 7.9552E-6
10-101606722-C-A p.Pro1384His missense ABCC2 1 83264 1.201E-5 41632 0 NA
10-101606730-T-C p.Phe1387Leu missense ABCC2 1 83288 1.20065E-5 41644 0 NA
10-101606734-C-G p.Ser1388Cys missense ABCC2 1 83282 1.20074E-5 41641 0 NA
10-101606742-CTGAGGA-C p.Arg1392_Met1393del disruptive_inframe_deletion ABCC2 2 83286 2.40136E-5 41643 0 4.37459E-5
10-101606747-G-A p.Arg1392Arg synonymous ABCC2 1 83298 1.20051E-5 41649 0 NA
10-101606750-G-T p.Met1393Ile missense ABCC2 8 83302 9.60361E-5 41651 0 0.00100705
10-101606756-C-T p.Leu1395Leu synonymous ABCC2 12 83296 1.44065E-4 41648 0 3.1839E-5
10-101606761-C-T p.Pro1397Leu missense ABCC2 8 83294 9.60453E-5 41647 0 9.55171E-5
10-101606774-C-T p.Tyr1401Tyr synonymous ABCC2 6 83292 7.20357E-5 41646 0 4.77228E-5
10-101606778-G-T p.Asp1403Tyr missense ABCC2 5 83292 6.00298E-5 41646 0 9.55597E-5
10-101606779-A-G p.Asp1403Gly missense ABCC2 1 83290 1.20062E-5 41645 0 8.24266E-6
10-101606797-C-T p.Ala1409Val missense ABCC2 2 83282 2.40148E-5 41641 0 NA
10-101606808-G-GCT p.His1414fs frameshift ABCC2 1 83272 1.20088E-5 41636 0 1.98869E-5
10-101606811-C-T p.His1414Tyr missense ABCC2 4 83264 4.804E-5 41632 0 1.0738E-4
10-101606813-C-T p.His1414His synonymous ABCC2 4 83266 4.80388E-5 41633 0 6.59816E-5
10-101606819-GT-G p.Ser1417fs frameshift ABCC2 1 83272 1.20088E-5 41636 0 NA
10-101606835-C-T p.Leu1422Leu synonymous ABCC2 1 83220 1.20163E-5 41610 0 NA
10-101606855-C-T p.His1428His synonymous ABCC2 1 83156 1.20256E-5 41578 0 1.65106E-5
10-101606856-G-A p.Glu1429Lys missense ABCC2 1 83152 1.20262E-5 41576 0 1.9891E-5
10-101606861-G-T p.Val1430Val synonymous ABCC2 5736 82896 0.0691951 41448 261 0.125378
10-101606869-C-G p.Ala1433Gly missense ABCC2 2 83014 2.40923E-5 41507 0 NA
10-101606869-C-T p.Ala1433Val missense ABCC2 1 83014 1.20462E-5 41507 0 NA
10-101610356-C-A c.4314-3C>A splice_region ABCC2 1 83146 1.2027E-5 41573 0 NA
10-101610362-A-G p.Ile1439Met missense ABCC2 1 83204 1.20187E-5 41602 0 NA
10-101610364-G-GC p.Gln1441fs frameshift ABCC2 2 83198 2.4039E-5 41599 0 8.40336E-6
10-101610372-C-T p.Gln1443* stop_gained ABCC2 1 83200 1.20192E-5 41600 0 6.37024E-5
10-101610380-G-C p.Leu1445Leu synonymous ABCC2 1 83224 1.20158E-5 41612 0 NA
10-101610393-G-T p.Ala1450Ser missense ABCC2 20 83266 2.40194E-4 41633 0 3.18451E-4
10-101610396-C-G p.Leu1451Val missense ABCC2 1 83294 1.20057E-5 41647 0 NA
10-101610402-C-T p.Arg1453Trp missense ABCC2 7 83306 8.40276E-5 41653 0 5.17034E-5
10-101610402-C-A p.Arg1453Arg synonymous ABCC2 1 83306 1.20039E-5 41653 0 NA
10-101610403-G-A p.Arg1453Gln missense ABCC2 3 83308 3.60109E-5 41654 0 2.86679E-4
10-101610403-G-T p.Arg1453Leu missense ABCC2 1 83308 1.20036E-5 41654 0 NA
10-101610409-C-G p.Ser1455Cys missense ABCC2 1 83316 1.20025E-5 41658 0 NA
10-101610442-C-T p.Ala1466Val missense ABCC2 2 83348 2.39958E-5 41674 0 9.55353E-5
10-101610443-G-A p.Ala1466Ala synonymous ABCC2 1 83350 1.19976E-5 41675 0 3.18137E-5
10-101610455-G-A p.Glu1470Glu synonymous ABCC2 1370 83348 0.0164371 41674 73 0.0310409
10-101610474-A-G p.Thr1477Ala missense ABCC2 3 83368 3.5985E-5 41684 0 NA
10-101610475-C-T p.Thr1477Met missense ABCC2 143 83368 0.00171529 41684 0 0.004375
10-101610488-C-T p.Asn1481Asn synonymous ABCC2 5 83370 5.99736E-5 41685 0 5.03525E-4
10-101610489-G-A p.Glu1482Lys missense ABCC2 1 83366 1.19953E-5 41683 0 3.97652E-6
10-101610495-G-T p.Ala1484Ser missense ABCC2 1 83360 1.19962E-5 41680 0 NA
10-101610499-A-G p.His1485Arg missense ABCC2 8 83364 9.59647E-5 41682 0 1.27389E-4
10-101610510-A-G p.Ile1489Val missense ABCC2 2 83346 2.39964E-5 41673 0 3.29478E-5
10-101610510-AT-GG p.Ile1489Gly missense ABCC2 1 83346 1.19982E-5 41673 0 NA
10-101610511-T-C p.Ile1489Thr missense ABCC2 4 83348 4.79916E-5 41674 0 NA
10-101610512-CA-C p.Thr1490fs frameshift ABCC2 1 83350 1.19976E-5 41675 0 2.47105E-5
10-101610516-AT-A p.Ile1491fs frameshift ABCC2 1 83360 1.19962E-5 41680 0 2.47109E-5
10-101610518-C-CAG p.Ala1492fs frameshift ABCC2 1 83356 1.19967E-5 41678 0 2.47109E-5
10-101610519-G-A p.Ala1492Thr missense ABCC2 1 83350 1.19976E-5 41675 0 1.19306E-5
10-101610527-G-A p.Arg1494Arg synonymous ABCC2 1 83328 1.20008E-5 41664 0 NA
10-101610533-C-T p.His1496His synonymous ABCC2 5537 83168 0.0665761 41584 253 0.120342
10-101610540-A-G p.Met1499Val missense ABCC2 22 83324 2.6403E-4 41662 0 0.00151057
10-101610549-G-A p.Asp1502Asn missense ABCC2 5 83288 6.00327E-5 41644 0 3.18451E-5
10-101610551-CAAGT-C p.Lys1503fs frameshift ABCC2 3 83292 3.60179E-5 41646 0 5.57232E-5
10-101610556-G-C c.4508+3G>C splice_region ABCC2 1 83264 1.201E-5 41632 0 3.98254E-6
10-101610559-T-C c.4508+6T>C splice_region ABCC2 1 83248 1.20123E-5 41624 0 3.18756E-5
10-101611262-A-G p.Val1504Val synonymous ABCC2 1 82502 1.21209E-5 41251 0 8.24239E-6
10-101611266-G-A p.Val1506Ile missense ABCC2 2 82560 2.42248E-5 41280 0 7.95608E-6
10-101611277-C-T p.Asn1509Asn synonymous ABCC2 149 82790 0.00179973 41395 0 0.00363242
10-101611278-G-A p.Gly1510Arg missense ABCC2 1 82826 1.20735E-5 41413 0 4.77331E-5
10-101611280-G-GA p.Ile1512fs frameshift ABCC2 1 82838 1.20718E-5 41419 0 2.38646E-5
10-101611288-T-C p.Ile1513Thr missense ABCC2 1 82946 1.2056E-5 41473 0 NA
10-101611294-G-A p.Cys1515Tyr missense ABCC2 7010 82874 0.0845862 41437 395 0.13142
10-101611295-C-T p.Cys1515Cys synonymous ABCC2 1 83018 1.20456E-5 41509 0 5.03525E-4
10-101611296-G-A p.Gly1516Ser missense ABCC2 2 83034 2.40865E-5 41517 0 8.35236E-5
10-101611310-ACTG-A p.Leu1522del disruptive_inframe_deletion ABCC2 1 83232 1.20146E-5 41616 0 3.977E-6
10-101611312-T-G p.Leu1521Arg missense ABCC2 1 83246 1.20126E-5 41623 0 3.18451E-5
10-101611318-A-C p.Gln1523Pro missense ABCC2 66 83298 7.92336E-4 41649 1 0.01
10-101611337-C-T p.Tyr1529Tyr synonymous ABCC2 1 83374 1.19941E-5 41687 0 NA
10-101611340-T-A p.Phe1530Leu missense ABCC2 2 83378 2.39871E-5 41689 0 8.23683E-6
10-101611342-T-A p.Met1531Lys missense ABCC2 1 83378 1.19936E-5 41689 0 8.23683E-6
10-101611349-G-A p.Lys1533Lys synonymous ABCC2 1 83376 1.19939E-5 41688 0 NA
10-101611385-C-G p.Phe1545Leu missense ABCC2 2 83346 2.39964E-5 41673 0 3.18451E-5