Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
2-237489083-G-A c.-26G>A splice_region ACKR3 8 82956 9.64367E-5 41478 0 3.46093E-5
2-237489083-G-T c.-26G>T splice_region ACKR3 4 82956 4.82183E-5 41478 0 NA
2-237489097-C-T c.-12C>T 5_prime_UTR_premature_start_codon_gain ACKR3 153 83088 0.00184142 41544 0 0.00325089
2-237489107-C-T c.-2C>T 5_prime_UTR_premature_start_codon_gain ACKR3 1 83224 1.20158E-5 41612 0 3.9969E-6
2-237489117-GC-AT p.LeuHis3LeuTyr missense ACKR3 1 83254 1.20114E-5 41627 0 NA
2-237489118-C-T p.His4Tyr missense ACKR3 6 83256 7.20669E-5 41628 0 5.03525E-4
2-237489126-C-T p.Phe6Phe synonymous ACKR3 2 83270 2.40183E-5 41635 0 3.18492E-5
2-237489139-C-G p.Pro11Ala missense ACKR3 2 83294 2.40113E-5 41647 0 8.25818E-6
2-237489152-C-T p.Ser15Leu missense ACKR3 3 83304 3.60127E-5 41652 0 3.0527E-4
2-237489156-C-A p.Asp16Glu missense ACKR3 2 83308 2.40073E-5 41654 0 3.97744E-6
2-237489157-A-G p.Ile17Val missense ACKR3 6 83312 7.20184E-5 41656 0 0.00251762
2-237489163-T-C p.Trp19Arg missense ACKR3 1 83320 1.20019E-5 41660 0 7.95387E-6
2-237489165-G-T p.Trp19Cys missense ACKR3 1 83320 1.20019E-5 41660 0 NA
2-237489168-A-G p.Pro20Pro synonymous ACKR3 1 83326 1.20011E-5 41663 0 1.65E-5
2-237489173-A-G p.Asn22Ser missense ACKR3 2 83340 2.39981E-5 41670 0 8.25246E-6
2-237489180-C-T p.Ser24Ser synonymous ACKR3 24 83322 2.88039E-4 41661 0 0.00251762
2-237489182-A-G p.Asp25Gly missense ACKR3 3 83338 3.5998E-5 41669 0 3.30426E-5
2-237489183-C-A p.Asp25Glu missense ACKR3 1 83336 1.19996E-5 41668 0 NA
2-237489189-C-T p.Ile27Ile synonymous ACKR3 1 83334 1.19999E-5 41667 0 6.3678E-5
2-237489190-G-A p.Val28Met missense ACKR3 1 83330 1.20005E-5 41665 0 1.6544E-5
2-237489192-G-C p.Val28Val synonymous ACKR3 1 83330 1.20005E-5 41665 0 NA
2-237489200-C-T p.Thr31Met missense ACKR3 4 83340 4.79962E-5 41670 0 6.25E-4
2-237489201-G-A p.Thr31Thr synonymous ACKR3 63 83334 7.55994E-4 41667 0 0.00100705
2-237489231-C-T p.Ser41Ser synonymous ACKR3 1 83300 1.20048E-5 41650 0 5.86117E-5
2-237489231-C-A p.Ser41Arg missense ACKR3 4 83300 4.80192E-5 41650 0 1.19674E-5
2-237489232-G-A p.Val42Ile missense ACKR3 328 83306 0.00393729 41653 3 0.00375
2-237489243-C-T p.Tyr45Tyr synonymous ACKR3 1 83306 1.20039E-5 41653 0 NA
2-237489245-C-T p.Thr46Met missense ACKR3 4 83300 4.80192E-5 41650 0 3.1841E-5
2-237489246-G-A p.Thr46Thr synonymous ACKR3 26 83280 3.122E-4 41640 0 0.00100705
2-237489268-A-G p.Ile54Val missense ACKR3 1 83276 1.20083E-5 41638 0 NA
2-237489277-A-G p.Ile57Val missense ACKR3 1 83280 1.20077E-5 41640 0 3.18512E-5
2-237489279-C-T p.Ile57Ile synonymous ACKR3 14 83282 1.68104E-4 41641 0 5.03525E-4
2-237489280-G-A p.Gly58Ser missense ACKR3 4 83284 4.80284E-5 41642 0 5.03525E-4
2-237489294-C-T p.Asn62Asn synonymous ACKR3 1 83268 1.20094E-5 41634 0 8.35785E-6
2-237489297-C-T p.Ser63Ser synonymous ACKR3 3245 83248 0.0389799 41624 85 0.0417571
2-237489298-G-C p.Val64Leu missense ACKR3 98 83288 0.00117664 41644 0 0.00213389
2-237489298-G-A p.Val64Met missense ACKR3 5 83288 6.00327E-5 41644 0 4.16556E-5
2-237489300-G-A p.Val64Val synonymous ACKR3 1 83294 1.20057E-5 41647 0 NA
2-237489303-G-A p.Val65Val synonymous ACKR3 1 83294 1.20057E-5 41647 0 3.98029E-6
2-237489310-G-A p.Val68Met missense ACKR3 1 83302 1.20045E-5 41651 0 8.296E-6
2-237489320-A-G p.Gln71Arg missense ACKR3 1 83310 1.20034E-5 41655 0 NA
2-237489338-A-G p.Tyr77Cys missense ACKR3 5 83310 6.00168E-5 41655 0 4.37473E-5
2-237489344-C-T p.Thr79Met missense ACKR3 1 83302 1.20045E-5 41651 0 3.29946E-5
2-237489345-G-A p.Thr79Thr synonymous ACKR3 3 83296 3.60161E-5 41648 0 2.47451E-5
2-237489345-G-T p.Thr79Thr synonymous ACKR3 2 83296 2.40108E-5 41648 0 3.97763E-6
2-237489369-C-T p.Ala87Ala synonymous ACKR3 5 83278 6.00399E-5 41639 0 3.5793E-5
2-237489375-C-A p.Ala89Ala synonymous ACKR3 3 83278 3.60239E-5 41639 0 3.18573E-5
2-237489375-C-T p.Ala89Ala synonymous ACKR3 5 83278 6.00399E-5 41639 0 1.19316E-5
2-237489378-C-T p.Asp90Asp synonymous ACKR3 1 83272 1.20088E-5 41636 0 NA
2-237489379-C-A p.Leu91Met missense ACKR3 1 83270 1.20091E-5 41635 0 3.18431E-5
2-237489395-C-T p.Thr96Ile missense ACKR3 3 83260 3.60317E-5 41630 0 NA
2-237489420-C-T p.Leu104Leu synonymous ACKR3 4 83276 4.8033E-5 41638 0 9.55353E-5
2-237489421-G-A p.Val105Met missense ACKR3 7 83270 8.40639E-5 41635 0 1.07079E-4
2-237489447-C-T p.Gly113Gly synonymous ACKR3 4 83278 4.80319E-5 41639 0 1.59286E-4
2-237489448-G-A p.Glu114Lys missense ACKR3 1 83288 1.20065E-5 41644 0 1.64747E-5
2-237489455-C-T p.Thr116Met missense ACKR3 11 83286 1.32075E-4 41643 0 1.98845E-5
2-237489456-G-A p.Thr116Thr synonymous ACKR3 1 83298 1.20051E-5 41649 0 4.37442E-5
2-237489485-T-A p.Ile126Asn missense ACKR3 1 83246 1.20126E-5 41623 0 3.97757E-6
2-237489492-C-G p.Leu128Leu synonymous ACKR3 2 83208 2.40361E-5 41604 0 3.97785E-6
2-237489495-C-T p.Phe129Phe synonymous ACKR3 4 83204 4.80746E-5 41602 0 3.18451E-5
2-237489496-G-A p.Gly130Ser missense ACKR3 2 83176 2.40454E-5 41588 0 7.95748E-6
2-237489497-G-C p.Gly130Ala missense ACKR3 2 83170 2.40471E-5 41585 0 NA
2-237489505-T-G p.Phe133Val missense ACKR3 1 83154 1.20259E-5 41577 0 1.19357E-5
2-237489512-T-C p.Leu135Pro missense ACKR3 1 83108 1.20325E-5 41554 0 NA
2-237489515-C-T p.Thr136Met missense ACKR3 1 83094 1.20346E-5 41547 0 1.19387E-5
2-237489516-G-A p.Thr136Thr synonymous ACKR3 2 83092 2.40697E-5 41546 0 3.29533E-5
2-237489517-T-G p.Cys137Gly missense ACKR3 3 83090 3.61054E-5 41545 0 4.3772E-5
2-237489522-G-A p.Met138Ile missense ACKR3 1 83064 1.20389E-5 41532 0 8.23818E-6
2-237489525-C-T p.Ser139Ser synonymous ACKR3 1 83010 1.20467E-5 41505 0 2.47154E-5
2-237489526-G-C p.Val140Leu missense ACKR3 1 83018 1.20456E-5 41509 0 3.98038E-6
2-237489526-G-A p.Val140Met missense ACKR3 4 83018 4.81823E-5 41509 0 3.18512E-5
2-237489531-C-G p.Asp141Glu missense ACKR3 1 82996 1.20488E-5 41498 0 8.23818E-6
2-237489548-C-T p.Thr147Ile missense ACKR3 2 83038 2.40854E-5 41519 0 3.97883E-6
2-237489565-C-T p.Pro153Ser missense ACKR3 3 83020 3.61359E-5 41510 0 6.36821E-5
2-237489574-A-G p.Arg156Gly missense ACKR3 1 83098 1.2034E-5 41549 0 NA
2-237489575-G-A p.Arg156Lys missense ACKR3 2 83094 2.40691E-5 41547 0 NA
2-237489589-C-T p.Arg161Cys missense ACKR3 8 82942 9.64529E-5 41471 0 5.17034E-5
2-237489592-C-T p.Arg162Cys missense ACKR3 9 82856 1.08622E-4 41428 0 4.37525E-5
2-237489593-G-A p.Arg162His missense ACKR3 1 82854 1.20694E-5 41427 0 0.001875
2-237489597-C-T p.Val163Val synonymous ACKR3 4 82868 4.82695E-5 41434 0 3.18492E-5
2-237489598-G-A p.Val164Ile missense ACKR3 2 82860 2.41371E-5 41430 0 1.64758E-5
2-237489611-T-C p.Val168Ala missense ACKR3 38 82664 4.59692E-4 41332 0 0.00375
2-237489619-C-T p.Leu171Leu synonymous ACKR3 1 82560 1.21124E-5 41280 0 8.25723E-6
2-237489630-C-T p.Cys174Cys synonymous ACKR3 1 82372 1.214E-5 41186 0 3.18471E-5
2-237489631-G-A p.Val175Met missense ACKR3 12 82346 1.45727E-4 41173 0 3.13072E-4
2-237489633-G-A p.Val175Val synonymous ACKR3 1 82356 1.21424E-5 41178 0 3.18552E-5
2-237489637-C-T p.Leu177Leu synonymous ACKR3 1 82372 1.214E-5 41186 0 3.97731E-6
2-237489637-C-G p.Leu177Val missense ACKR3 1 82372 1.214E-5 41186 0 NA
2-237489654-C-T p.Tyr182Tyr synonymous ACKR3 1 82228 1.21613E-5 41114 0 1.59081E-5
2-237489658-A-G p.Lys184Glu missense ACKR3 1 82238 1.21598E-5 41119 0 1.59076E-5
2-237489663-C-T p.Thr185Thr synonymous ACKR3 3 82252 3.64733E-5 41126 0 5.96592E-5
2-237489664-G-A p.Val186Ile missense ACKR3 24 82248 2.918E-4 41124 0 6.25E-4
2-237489668-C-T p.Thr187Met missense ACKR3 3 82246 3.64759E-5 41123 0 4.37501E-5
2-237489669-G-A p.Thr187Thr synonymous ACKR3 1 82258 1.21569E-5 41129 0 2.47207E-5
2-237489674-C-T p.Ala189Val missense ACKR3 6 82206 7.29874E-5 41103 0 1.59256E-4
2-237489675-G-A p.Ala189Ala synonymous ACKR3 4 82232 4.86429E-5 41116 0 2.47211E-5
2-237489680-A-G p.Asn191Ser missense ACKR3 1 82306 1.21498E-5 41153 0 3.18715E-5
2-237489681-C-A p.Asn191Lys missense ACKR3 3 82334 3.6437E-5 41167 0 3.29603E-5
2-237489683-A-G p.Asn192Ser missense ACKR3 1 82360 1.21418E-5 41180 0 3.18175E-5
2-237489684-T-A p.Asn192Lys missense ACKR3 1 82352 1.2143E-5 41176 0 8.23995E-6
2-237489693-C-T p.Tyr195Tyr synonymous ACKR3 1 82336 1.21454E-5 41168 0 3.97795E-6
2-237489697-C-T p.Arg197Trp missense ACKR3 3 82316 3.64449E-5 41158 0 3.2962E-5
2-237489704-T-C p.Phe199Ser missense ACKR3 1 82298 1.2151E-5 41149 0 5.03525E-4
2-237489705-C-T p.Phe199Phe synonymous ACKR3 1 82300 1.21507E-5 41150 0 3.18431E-5
2-237489709-C-T p.Pro201Ser missense ACKR3 2 82240 2.43191E-5 41120 0 NA
2-237489711-C-T p.Pro201Pro synonymous ACKR3 267 82242 0.00324652 41121 1 0.004375
2-237489712-G-A p.Glu202Lys missense ACKR3 1 82200 1.21655E-5 41100 0 NA
2-237489717-C-G p.His203Gln missense ACKR3 1 82258 1.21569E-5 41129 0 NA
2-237489738-C-T p.Ile210Ile splice_region+synonymous ACKR3 95 82074 0.00115749 41037 0 0.00187874
2-237489739-G-A p.Gly211Ser missense ACKR3 2 82056 2.43736E-5 41028 0 2.47268E-5
2-237489740-G-A p.Gly211Asp missense ACKR3 1 82008 1.21939E-5 41004 0 NA
2-237489757-G-A p.Val217Ile missense ACKR3 2 81958 2.44027E-5 40979 0 2.7868E-5
2-237489775-G-A p.Val223Ile missense ACKR3 2 82034 2.43801E-5 41017 0 3.18451E-5
2-237489793-G-A p.Ala229Thr missense ACKR3 6 82412 7.28049E-5 41206 0 2.30805E-4
2-237489793-G-T p.Ala229Ser missense ACKR3 1 82412 1.21342E-5 41206 0 NA
2-237489794-C-G p.Ala229Gly missense ACKR3 1 82464 1.21265E-5 41232 0 6.36862E-5
2-237489796-G-A p.Val230Ile missense ACKR3 545 82512 0.0066051 41256 10 0.0131545
2-237489798-C-G p.Val230Val synonymous ACKR3 1 82576 1.21101E-5 41288 0 NA
2-237489821-C-T p.Ala238Val missense ACKR3 1 82860 1.20685E-5 41430 0 9.55353E-5
2-237489827-C-T p.Ser240Leu missense ACKR3 3 82930 3.61751E-5 41465 0 1.19332E-5
2-237489828-G-A p.Ser240Ser synonymous ACKR3 1 82932 1.20581E-5 41466 0 3.18471E-5
2-237489828-G-C p.Ser240Ser synonymous ACKR3 3 82932 3.61742E-5 41466 0 7.41779E-5
2-237489830-C-T p.Ala241Val missense ACKR3 1 82956 1.20546E-5 41478 0 6.25E-4
2-237489835-A-G p.Ser243Gly missense ACKR3 3 83008 3.61411E-5 41504 0 8.24117E-6
2-237489859-C-T p.Arg251Trp missense ACKR3 2 83186 2.40425E-5 41593 0 4.94413E-5
2-237489860-G-A p.Arg251Gln missense ACKR3 3 83192 3.60612E-5 41596 0 1.89531E-4
2-237489861-G-A p.Arg251Arg synonymous ACKR3 1 83192 1.20204E-5 41596 0 3.977E-6
2-237489867-C-T p.Ile253Ile synonymous ACKR3 1 83224 1.20158E-5 41612 0 NA
2-237489872-TCTC-T p.Ser256del disruptive_inframe_deletion ACKR3 1 83234 1.20143E-5 41617 0 NA
2-237489879-C-T p.Tyr257Tyr synonymous ACKR3 2 83244 2.40258E-5 41622 0 3.5791E-5
2-237489880-G-A p.Val258Met missense ACKR3 1 83244 1.20129E-5 41622 0 NA
2-237489904-C-T p.Leu266Leu synonymous ACKR3 25769 82972 0.310575 41486 4700 0.35146
2-237489915-C-T p.His269His synonymous ACKR3 3 83306 3.60118E-5 41653 0 5.03525E-4
2-237489916-G-A p.Val270Met missense ACKR3 4 83304 4.80169E-5 41652 0 3.1841E-5
2-237489920-C-T p.Ala271Val missense ACKR3 2 83294 2.40113E-5 41647 0 2.38658E-5
2-237489927-G-T p.Leu273Leu synonymous ACKR3 93 83300 0.00111645 41650 2 0.006875
2-237489934-A-T p.Ile276Phe missense ACKR3 1 83308 1.20036E-5 41654 0 NA
2-237489955-A-G p.Ile283Val missense ACKR3 2 83286 2.40136E-5 41643 0 3.18817E-5
2-237489970-C-T p.Arg288Trp missense ACKR3 4 83242 4.80527E-5 41621 0 1.56538E-4
2-237489970-C-A p.Arg288Arg synonymous ACKR3 1 83242 1.20132E-5 41621 0 3.9795E-6
2-237489981-C-T p.His291His synonymous ACKR3 4 83176 4.80908E-5 41588 0 2.22902E-4
2-237489981-C-G p.His291Gln missense ACKR3 1 83176 1.20227E-5 41588 0 3.18431E-5
2-237489982-G-A p.Ala292Thr missense ACKR3 3 83176 3.60681E-5 41588 0 1.64766E-5
2-237489985-C-T p.Leu293Phe missense ACKR3 4 83180 4.80885E-5 41590 0 0.00125
2-237489991-A-G p.Thr295Ala missense ACKR3 2 83174 2.4046E-5 41587 0 7.95836E-6
2-237489992-C-T p.Thr295Met missense ACKR3 1 83174 1.2023E-5 41587 0 1.64777E-5
2-237489993-G-T p.Thr295Thr synonymous ACKR3 3 83156 3.60768E-5 41578 0 6.37227E-5
2-237489993-G-A p.Thr295Thr synonymous ACKR3 2 83156 2.40512E-5 41578 0 4.77578E-5
2-237490000-C-T p.His298Tyr missense ACKR3 313 83162 0.00376374 41581 1 0.01875
2-237490003-G-A p.Val299Ile missense ACKR3 2 83144 2.40547E-5 41572 0 NA
2-237490016-T-A p.Leu303Gln missense ACKR3 1 83116 1.20314E-5 41558 0 NA
2-237490020-G-A p.Ser304Ser synonymous ACKR3 7 83104 8.42318E-5 41552 0 1.59236E-4
2-237490020-G-C p.Ser304Ser synonymous ACKR3 1 83104 1.20331E-5 41552 0 7.95944E-6
2-237490028-A-C p.His307Pro missense ACKR3 6 83118 7.21865E-5 41559 0 3.18715E-5
2-237490035-C-T p.Cys309Cys synonymous ACKR3 9 83116 1.08282E-4 41558 0 2.22987E-4
2-237490036-G-A p.Val310Ile missense ACKR3 1 83118 1.20311E-5 41559 0 8.239E-6
2-237490041-C-G p.Asn311Lys missense ACKR3 1 83138 1.20282E-5 41569 0 NA
2-237490060-A-G p.Ile318Val missense ACKR3 1 83162 1.20247E-5 41581 0 8.23913E-6
2-237490066-C-T p.Arg320Cys missense ACKR3 4 83160 4.81E-5 41580 0 5.03525E-4
2-237490074-C-T p.Tyr322Tyr synonymous ACKR3 2 83154 2.40518E-5 41577 0 NA
2-237490077-G-A p.Arg323Arg synonymous ACKR3 3 83160 3.6075E-5 41580 0 3.18695E-5
2-237490081-G-A p.Glu325Lys missense ACKR3 1 83130 1.20294E-5 41565 0 3.97795E-6
2-237490106-A-G p.Lys333Arg missense ACKR3 1 83154 1.20259E-5 41577 0 3.18634E-5
2-237490112-C-T p.Ser335Leu missense ACKR3 3 83166 3.60724E-5 41583 0 3.18654E-5
2-237490113-G-A p.Ser335Ser synonymous ACKR3 9 83168 1.08215E-4 41584 0 4.94503E-5
2-237490114-G-A p.Ala336Thr missense ACKR3 1 83160 1.2025E-5 41580 0 NA
2-237490115-C-T p.Ala336Val missense ACKR3 55 83150 6.61455E-4 41575 0 6.68832E-4
2-237490163-C-T p.Thr352Met missense ACKR3 7 83102 8.42338E-5 41551 0 5.5689E-5
2-237490164-G-A p.Thr352Thr synonymous ACKR3 10 83088 1.20354E-4 41544 0 1.27429E-4
2-237490168-T-A p.Tyr354Asn missense ACKR3 1 83046 1.20415E-5 41523 0 NA
2-237490174-G-A p.Ala356Thr missense ACKR3 1 83024 1.20447E-5 41512 0 3.31923E-5
2-237490195-T-G p.Ter363Glyext*? stop_lost ACKR3 2 82866 2.41354E-5 41433 0 NA
2-237491000-C-G c.*803C>G splice_region ACKR3 9 44452 2.02466E-4 22226 0 NA
2-237491001-A-G c.*804A>G splice_region ACKR3 1 44452 2.24962E-5 22226 0 NA