Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
12-1800386-G-A n.51+7G>A splice_region ADIPOR2 1 50 0.02 25 0 0.00281007
12-1863416-CT-C c.-86-7delT splice_region ADIPOR2 1 76008 1.31565E-5 38004 0 NA
12-1863423-G-C c.-86-1G>C splice_acceptor ADIPOR2 2 77138 2.59276E-5 38569 0 NA
12-1863487-T-G c.-23T>G 5_prime_UTR_premature_start_codon_gain ADIPOR2 4 82328 4.85861E-5 41164 0 NA
12-1863527-A-G p.Glu6Glu synonymous ADIPOR2 1 83192 1.20204E-5 41596 0 1.65763E-5
12-1863532-G-A p.Arg8Gln missense ADIPOR2 1 83190 1.20207E-5 41595 0 NA
12-1863540-T-A p.Cys11Ser missense ADIPOR2 6 83204 7.21119E-5 41602 0 3.18715E-5
12-1863544-G-A p.Ser12Asn missense ADIPOR2 1 83220 1.20163E-5 41610 0 NA
12-1863548-G-A p.Arg13Arg synonymous ADIPOR2 9 83216 1.08152E-4 41608 0 6.25E-4
12-1863554-A-G p.Pro15Pro synonymous ADIPOR2 5 83238 6.00687E-5 41619 0 8.24552E-6
12-1863559-C-A p.Pro17Gln missense ADIPOR2 1 83232 1.20146E-5 41616 0 NA
12-1863564-A-G p.Ile19Val missense ADIPOR2 1 83244 1.20129E-5 41622 0 1.9943E-5
12-1863565-T-C p.Ile19Thr missense ADIPOR2 1 83238 1.20137E-5 41619 0 4.12004E-5
12-1863584-C-G p.His25Gln missense ADIPOR2 2 83254 2.40229E-5 41627 0 NA
12-1863600-C-G p.Arg31Gly missense ADIPOR2 1 83240 1.20135E-5 41620 0 8.2394E-6
12-1863600-C-T p.Arg31* stop_gained ADIPOR2 1 83240 1.20135E-5 41620 0 1.19586E-5
12-1863601-G-A p.Arg31Gln missense ADIPOR2 5 83244 6.00644E-5 41622 0 3.18832E-5
12-1863617-C-T p.Asp36Asp synonymous ADIPOR2 1 83258 1.20109E-5 41629 0 NA
12-1863625-A-G p.Gln39Arg missense ADIPOR2 454 83258 0.00545293 41629 4 0.0124267
12-1863630-G-T p.Asp41Tyr missense ADIPOR2 1 83268 1.20094E-5 41634 0 NA
12-1863645-T-G p.Leu46Val missense ADIPOR2 1 83258 1.20109E-5 41629 0 NA
12-1863651-G-C p.Ala48Pro missense ADIPOR2 2 83256 2.40223E-5 41628 0 8.25982E-6
12-1863669-C-T p.His54Tyr missense ADIPOR2 2 83188 2.40419E-5 41594 0 NA
12-1863670-A-G p.His54Arg missense ADIPOR2 1 83184 1.20215E-5 41592 0 NA
12-1882004-G-A c.172-4G>A splice_region ADIPOR2 1 82984 1.20505E-5 41492 0 NA
12-1882007-G-C c.172-1G>C splice_acceptor ADIPOR2 1 83016 1.20459E-5 41508 0 NA
12-1882021-A-C p.His62Pro missense ADIPOR2 3 83200 3.60577E-5 41600 0 1.99855E-5
12-1882052-T-A p.Asp72Glu missense ADIPOR2 2 83234 2.40286E-5 41617 0 7.97156E-6
12-1882053-G-A p.Glu73Lys missense ADIPOR2 1 83242 1.20132E-5 41621 0 NA
12-1882072-C-T p.Ser79Phe missense ADIPOR2 1 83256 1.20111E-5 41628 0 NA
12-1882130-AAG-A c.291+4_291+5delAG splice_region ADIPOR2 1 83216 1.20169E-5 41608 0 3.99409E-6
12-1887044-A-T p.Ile106Phe missense ADIPOR2 1 83330 1.20005E-5 41665 0 NA
12-1887058-A-G p.Val110Val synonymous ADIPOR2 1 83354 1.1997E-5 41677 0 NA
12-1887065-G-A p.Asp113Asn missense ADIPOR2 1 83356 1.19967E-5 41678 0 NA
12-1887096-A-T p.His123Leu missense ADIPOR2 1 83328 1.20008E-5 41664 0 NA
12-1887103-C-T p.His125His synonymous ADIPOR2 2 83300 2.40096E-5 41650 0 1.15367E-4
12-1887106-G-A p.Arg126Arg synonymous ADIPOR2 4 83296 4.80215E-5 41648 0 1.98962E-5
12-1887129-C-A p.Ala134Asp missense ADIPOR2 1 83250 1.2012E-5 41625 0 NA
12-1887166-A-G p.Thr146Thr synonymous ADIPOR2 1 83160 1.2025E-5 41580 0 NA
12-1887197-T-G c.463+6T>G splice_region ADIPOR2 2 82892 2.41278E-5 41446 0 8.32584E-6
12-1889611-T-G c.464-6T>G splice_region ADIPOR2 1 82668 1.20966E-5 41334 0 NA
12-1889622-G-A p.Val157Ile missense ADIPOR2 1 82974 1.2052E-5 41487 0 NA
12-1889642-G-T p.Gly163Gly synonymous ADIPOR2 1 83102 1.20334E-5 41551 0 1.20672E-5
12-1889661-C-T p.Pro170Ser missense ADIPOR2 2 83202 2.40379E-5 41601 0 NA
12-1889679-G-T p.Ala176Ser missense ADIPOR2 1 83224 1.20158E-5 41612 0 3.18451E-5
12-1889697-G-A p.Val182Met missense ADIPOR2 1 83250 1.2012E-5 41625 0 1.64802E-5
12-1889711-A-G p.Leu186Leu synonymous ADIPOR2 1 83250 1.2012E-5 41625 0 8.23968E-6
12-1889720-A-G p.Leu189Leu synonymous ADIPOR2 4 83246 4.80504E-5 41623 0 3.18817E-5
12-1889800-C-G p.Ser216Cys missense ADIPOR2 1 82710 1.20904E-5 41355 0 NA
12-1889800-CTAAG-C p.Lys217del splice_donor ADIPOR2 1 82710 1.20904E-5 41355 0 NA
12-1890077-C-T p.Leu225Phe missense ADIPOR2 1 83148 1.20267E-5 41574 0 8.33042E-6
12-1890094-T-C p.Ser230Ser synonymous ADIPOR2 1 83248 1.20123E-5 41624 0 3.9968E-6
12-1890096-T-C p.Phe231Ser missense ADIPOR2 1 83256 1.20111E-5 41628 0 NA
12-1890111-A-G p.Tyr236Cys missense ADIPOR2 1 83298 1.20051E-5 41649 0 NA
12-1890126-G-A p.Cys241Tyr missense ADIPOR2 1 83318 1.20022E-5 41659 0 NA
12-1890169-G-A p.Val255Val synonymous ADIPOR2 9 83328 1.08007E-4 41664 0 3.18532E-5
12-1890188-A-G p.Ile262Val missense ADIPOR2 1 83322 1.20016E-5 41661 0 3.98889E-6
12-1890193-C-G p.Val263Val synonymous ADIPOR2 12 83328 1.44009E-4 41664 0 1.2738E-4
12-1890199-G-A p.Gln265Gln synonymous ADIPOR2 9999 83078 0.120357 41539 675 0.139582
12-1890206-A-C p.Met268Leu missense ADIPOR2 1 83244 1.20129E-5 41622 0 NA
12-1890214-C-T p.Ala270Ala synonymous ADIPOR2 1 83200 1.20192E-5 41600 0 8.07722E-6
12-1890227-C-T p.Arg275Trp missense ADIPOR2 1 83038 1.20427E-5 41519 0 NA
12-1890233-G-A p.Val277Ile missense ADIPOR2 3 82826 3.62205E-5 41413 0 1.77308E-5
12-1890243-G-GAGTGTTTTTGGGCC c.838+1_838+2insAGTGTTTTTGGGCC splice_donor ADIPOR2 1 82700 1.20919E-5 41350 0 3.18512E-5
12-1890250-C-T c.838+8C>T splice_region ADIPOR2 2 82346 2.42878E-5 41173 0 4.73059E-6
12-1893042-C-T c.839-4C>T splice_region ADIPOR2 1 82872 1.20668E-5 41436 0 NA
12-1893043-T-A c.839-3T>A splice_region ADIPOR2 1 82916 1.20604E-5 41458 0 NA
12-1893077-C-A p.Ile290Ile synonymous ADIPOR2 9752 82780 0.117806 41390 644 0.137319
12-1893103-C-T p.Ser299Leu missense ADIPOR2 1 83326 1.20011E-5 41663 0 8.26897E-6
12-1893104-G-A p.Ser299Ser synonymous ADIPOR2 2 83328 2.40015E-5 41664 0 3.18756E-5
12-1893110-G-T p.Gly301Gly synonymous ADIPOR2 3 83352 3.59919E-5 41676 0 9.56328E-5
12-1893122-C-T p.Ala305Ala synonymous ADIPOR2 84 83316 0.00100821 41658 0 0.00169027
12-1893123-G-A p.Ala306Thr missense ADIPOR2 1 83314 1.20028E-5 41657 0 1.59532E-5
12-1893138-A-G p.Ile311Val missense ADIPOR2 6 83332 7.20012E-5 41666 0 3.18735E-5
12-1893169-AC-GT p.Tyr321Cys missense ADIPOR2 2 83332 2.40004E-5 41666 0 NA
12-1893170-C-T p.Tyr321Tyr synonymous ADIPOR2 14131 83058 0.170134 41529 1675 0.225341
12-1893194-T-G p.Ala329Ala synonymous ADIPOR2 4 83140 4.81116E-5 41570 0 6.37024E-5
12-1893201-A-G p.Ile332Val missense ADIPOR2 2 83034 2.40865E-5 41517 0 8.42318E-6
12-1893206-C-T p.Pro333Pro synonymous ADIPOR2 9 82972 1.0847E-4 41486 0 3.34509E-4
12-1893239-G-GTTTCACTCTCATCAGCT c.1032_1032+1insTTTCACTCTCATCAGCT splice_donor ADIPOR2 2 82530 2.42336E-5 41265 1 NA
12-1893247-T-C c.1032+8T>C splice_region ADIPOR2 6 82230 7.29661E-5 41115 0 2.65651E-5
12-1895115-C-T p.His346His synonymous ADIPOR2 1 83284 1.20071E-5 41642 0 NA
12-1895163-C-T p.His362His synonymous ADIPOR2 1 83370 1.19947E-5 41685 0 3.1839E-5
12-1895166-C-T p.Phe363Phe synonymous ADIPOR2 1 83374 1.19941E-5 41687 0 3.29554E-5
12-1895180-A-G p.Asn368Ser missense ADIPOR2 1 83370 1.19947E-5 41685 0 NA
12-1895183-T-A p.Leu369His missense ADIPOR2 2 83380 2.39866E-5 41690 0 NA
12-1895199-C-G p.Phe374Leu missense ADIPOR2 2 83376 2.39877E-5 41688 0 6.37227E-5
12-1895205-C-T p.Ile376Ile synonymous ADIPOR2 5 83368 5.9975E-5 41684 0 6.59391E-5
12-1895206-G-T p.Gly377Cys missense ADIPOR2 1 83356 1.19967E-5 41678 0 NA
12-1895208-C-T p.Gly377Gly synonymous ADIPOR2 237 83362 0.00284302 41681 4 0.0058336
12-1895226-G-C p.Glu383Asp missense ADIPOR2 2 83312 2.40061E-5 41656 0 3.97852E-6
12-1895229-T-A p.Asp384Glu missense ADIPOR2 1 83304 1.20042E-5 41652 0 NA
12-1895230-G-T p.Ala385Ser missense ADIPOR2 156 83302 0.0018727 41651 0 0.009375
12-1895237-G-A p.Ter387Ter stop_retained ADIPOR2 1 83282 1.20074E-5 41641 0 NA
12-1897842-A-G c.*2604A>G splice_region ADIPOR2 34 39106 8.69432E-4 19553 0 9.23567E-4