Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
5-171288554-C-CA c.*2576dupT splice_region FBXW11 548 43984 0.0124591 21992 7 0.0121625
5-171295642-T-C p.Arg542Arg synonymous FBXW11 1 82908 1.20616E-5 41454 0 NA
5-171295650-T-C p.Ile540Val missense FBXW11 3 83014 3.61385E-5 41507 0 NA
5-171295660-T-C p.Thr536Thr synonymous FBXW11 1 83106 1.20328E-5 41553 0 NA
5-171295669-G-C p.Pro533Pro synonymous FBXW11 125 83128 0.00150371 41564 0 0.00135453
5-171295676-C-T p.Arg531His missense FBXW11 1 83166 1.20241E-5 41583 0 3.18552E-5
5-171295679-G-A p.Thr530Ile missense FBXW11 1 83192 1.20204E-5 41596 0 3.98184E-6
5-171295692-C-G p.Ala526Pro missense FBXW11 2 83228 2.40304E-5 41614 0 1.64853E-5
5-171295726-A-G p.Ile514Ile synonymous FBXW11 22 83296 2.64118E-4 41648 0 3.18552E-5
5-171295729-A-G p.Thr513Thr synonymous FBXW11 15 83288 1.80098E-4 41644 0 6.69131E-4
5-171295738-A-G p.His510His synonymous FBXW11 15 83300 1.80072E-4 41650 0 6.68875E-4
5-171295789-T-A p.Gly493Gly synonymous FBXW11 1 83134 1.20288E-5 41567 0 NA
5-171296743-C-T p.Arg486His missense FBXW11 1 82988 1.20499E-5 41494 0 2.83629E-5
5-171296754-T-G p.Thr482Thr synonymous FBXW11 1 83072 1.20378E-5 41536 0 3.18512E-5
5-171296762-C-A p.Ala480Ser missense FBXW11 1 83082 1.20363E-5 41541 0 NA
5-171296783-C-T p.Ala473Thr missense FBXW11 1 83110 1.20322E-5 41555 0 NA
5-171296790-C-T p.Leu470Leu synonymous FBXW11 3 83088 3.61063E-5 41544 0 6.37186E-5
5-171296806-A-G p.Ile465Thr missense FBXW11 3 83030 3.61315E-5 41515 0 NA
5-171296808-T-C p.Lys464Lys synonymous FBXW11 1 83028 1.20441E-5 41514 0 NA
5-171297802-G-C p.Val446Val synonymous FBXW11 1 83316 1.20025E-5 41658 0 NA
5-171297815-T-TTCTTTTCCTCCTTC p.His442fs frameshift FBXW11 1 83308 1.20036E-5 41654 0 NA
5-171297816-G-C p.His442Asp missense FBXW11 1 83306 1.20039E-5 41653 0 NA
5-171297825-G-A p.Leu439Leu synonymous FBXW11 1 83302 1.20045E-5 41651 0 NA
5-171297835-A-G p.Cys435Cys synonymous FBXW11 1 83298 1.20051E-5 41649 0 3.97877E-6
5-171297850-A-G p.Ile430Ile synonymous FBXW11 4 83270 4.80365E-5 41635 0 1.5667E-4
5-171297864-T-TAATGGTATTATCTGATGATCCAC c.1278-3_1278-2insGTGGATCATCAGATAATACCATT splice_region FBXW11 2 83200 2.40385E-5 41600 1 NA
5-171297864-T-TAATGGTATTATC c.1278-3_1278-2insGATAATACCATT splice_region FBXW11 2 83200 2.40385E-5 41600 1 NA
5-171299884-A-G p.Asn423Asn synonymous FBXW11 2 82814 2.41505E-5 41407 0 1.59229E-5
5-171299887-A-G p.Asp422Asp synonymous FBXW11 1 82858 1.20688E-5 41429 0 NA
5-171299908-C-G p.Leu415Leu synonymous FBXW11 1 83112 1.2032E-5 41556 0 5.03525E-4
5-171299917-C-T p.Arg412Arg synonymous FBXW11 1 83202 1.20189E-5 41601 0 9.94645E-5
5-171299920-G-A p.Tyr411Tyr synonymous FBXW11 1 83208 1.20181E-5 41604 0 3.18512E-5
5-171299926-G-A p.Leu409Leu synonymous FBXW11 2 83226 2.4031E-5 41613 0 NA
5-171299944-C-T p.Lys403Lys synonymous FBXW11 1 83274 1.20085E-5 41637 0 5.03525E-4
5-171299947-G-A p.His402His synonymous FBXW11 1 83264 1.201E-5 41632 0 3.18494E-5
5-171299974-A-G p.Cys393Cys synonymous FBXW11 1 83260 1.20106E-5 41630 0 4.45746E-4
5-171299980-G-A p.Ser391Ser synonymous FBXW11 1 83238 1.20137E-5 41619 0 3.991E-6
5-171299983-C-T p.Thr390Thr synonymous FBXW11 1 83236 1.2014E-5 41618 0 3.9969E-6
5-171299994-C-CTTTGATGGTCCTGTCA c.1159-1_1159insTGACAGGACCATCAAA splice_acceptor FBXW11 2 83210 2.40356E-5 41605 1 NA
5-171303295-G-C p.Thr384Thr synonymous FBXW11 1 82136 1.21749E-5 41068 0 6.37064E-5
5-171303310-G-A p.Ala379Ala synonymous FBXW11 1 82234 1.21604E-5 41117 0 NA
5-171303313-A-G p.Ser378Ser synonymous FBXW11 1 82278 1.21539E-5 41139 0 NA
5-171303319-G-A p.Ile376Ile synonymous FBXW11 273 82320 0.00331633 41160 0 0.00261063
5-171303319-G-T p.Ile376Ile synonymous FBXW11 2 82322 2.42948E-5 41161 0 NA
5-171303330-C-T p.Asp373Asn missense FBXW11 3 82456 3.6383E-5 41228 0 NA
5-171303352-G-A p.Ala365Ala synonymous FBXW11 4 82624 4.84121E-5 41312 0 3.18471E-5
5-171303375-C-T p.Val358Ile missense FBXW11 1 82716 1.20896E-5 41358 0 NA
5-171303382-T-C p.Leu355Leu synonymous FBXW11 24 82760 2.89995E-4 41380 0 3.50452E-4
5-171303409-G-T p.Asp346Glu missense FBXW11 1 82904 1.20621E-5 41452 0 NA
5-171303421-A-G p.Ile342Ile synonymous FBXW11 4 82954 4.82195E-5 41477 0 3.98467E-6
5-171303458-T-C p.Asn330Ser missense FBXW11 2 83110 2.40645E-5 41555 0 NA
5-171303472-G-A p.His325His synonymous FBXW11 142 83100 0.00170878 41550 1 0.00362942
5-171303477-A-G p.Leu324Leu synonymous FBXW11 1157 83078 0.0139267 41539 37 0.028788
5-171303488-T-C p.Asn320Ser missense FBXW11 1 83030 1.20438E-5 41515 0 8.25055E-6
5-171303493-G-A p.His318His synonymous FBXW11 1 82984 1.20505E-5 41492 0 3.1841E-5
5-171303520-C-T p.Thr309Thr synonymous FBXW11 3 82644 3.63003E-5 41322 0 1.59375E-5
5-171303521-G-A p.Thr309Met missense FBXW11 2 82626 2.42055E-5 41313 0 1.19517E-5
5-171303536-A-G p.Val304Ala missense+splice_region FBXW11 1 82456 1.21277E-5 41228 0 NA
5-171303543-GAGAGA-G c.909-10_909-6delTCTCT splice_region FBXW11 2 82464 2.4253E-5 41232 0 7.99623E-6
5-171305008-C-G c.908+7G>C splice_region FBXW11 1 82886 1.20648E-5 41443 0 1.90479E-4
5-171305020-C-T p.Thr301Thr synonymous FBXW11 1 82930 1.20584E-5 41465 0 6.25E-4
5-171305038-A-G p.Thr295Thr synonymous FBXW11 3762 82928 0.0453647 41464 490 0.0943138
5-171305051-C-T p.Arg291His missense FBXW11 2 83018 2.40912E-5 41509 0 3.18451E-5
5-171305074-G-A p.Val283Val synonymous FBXW11 2 83138 2.40564E-5 41569 0 1.64935E-5
5-171305103-TCAAACATTCCAGGCTGGTTTTATCCCATATCTATTGAGACAAGATTAGCCA-T p.Ile264_Lys274del splice_acceptor FBXW11 1 83130 1.20294E-5 41565 0 NA
5-171305110-T-C p.Glu271Glu synonymous FBXW11 18 83130 2.16528E-4 41565 0 4.46002E-4
5-171305117-C-T p.Ser269Asn missense FBXW11 1 83134 1.20288E-5 41567 0 3.18471E-5
5-171305119-G-A p.Thr268Thr synonymous FBXW11 1 83122 1.20305E-5 41561 0 NA
5-171305137-T-C c.790-4A>G splice_region FBXW11 7 83068 8.42683E-5 41534 0 1.27405E-4
5-171318468-C-T c.789+3G>A splice_region FBXW11 3 80458 3.72865E-5 40229 0 8.44637E-6
5-171318491-G-A p.Leu257Leu synonymous FBXW11 2 81678 2.44864E-5 40839 0 4.21585E-6
5-171318495-A-G p.Ser255Ser synonymous FBXW11 1 81784 1.22273E-5 40892 0 NA
5-171318509-C-T p.Glu251Lys missense FBXW11 1 82092 1.21815E-5 41046 0 NA
5-171318513-A-G p.Asp249Asp synonymous FBXW11 6 82224 7.29714E-5 41112 0 7.28032E-5
5-171318516-G-A p.Tyr248Tyr synonymous FBXW11 2 82266 2.43114E-5 41133 0 8.10438E-6
5-171318522-T-C p.Leu246Leu synonymous FBXW11 3 82382 3.64157E-5 41191 0 3.20513E-5
5-171318580-C-T p.Arg227Gln missense FBXW11 3 82560 3.63372E-5 41280 0 1.65937E-5
5-171318588-C-T p.Arg224Arg synonymous FBXW11 1 82534 1.21162E-5 41267 0 8.30137E-6
5-171318596-T-G p.Asn222His missense FBXW11 2 82510 2.42395E-5 41255 0 NA
5-171318607-G-GTC p.Thr218fs frameshift FBXW11 2 82434 2.42618E-5 41217 1 NA
5-171318614-G-GA c.652-7_652-6insT splice_region FBXW11 2 82350 2.42866E-5 41175 0 1.27792E-5
5-171326000-A-T c.651+8T>A splice_region FBXW11 1 81904 1.22094E-5 40952 0 4.4648E-6
5-171326002-A-G c.651+6T>C splice_region FBXW11 3 81926 3.66184E-5 40963 0 6.37227E-5
5-171326020-G-A p.Ile213Ile synonymous FBXW11 2 82398 2.42724E-5 41199 0 6.37146E-5
5-171326033-T-A p.Tyr209Phe missense FBXW11 1 82610 1.21051E-5 41305 0 NA
5-171326035-T-C p.Leu208Leu synonymous FBXW11 1 82626 1.21027E-5 41313 0 NA
5-171326038-T-C p.Ser207Ser synonymous FBXW11 1 82638 1.2101E-5 41319 0 1.65791E-5
5-171326041-C-T p.Arg206Arg synonymous FBXW11 1 82670 1.20963E-5 41335 0 3.18613E-5
5-171326050-T-G p.Ser203Ser synonymous FBXW11 4 82720 4.83559E-5 41360 0 8.28432E-6
5-171326913-C-T c.560+5G>A splice_region FBXW11 1 82014 1.2193E-5 41007 0 NA
5-171326935-A-G p.Leu181Leu synonymous FBXW11 1 82566 1.21115E-5 41283 0 NA
5-171326955-C-T p.Asp175Asn missense FBXW11 1 82966 1.20531E-5 41483 0 NA
5-171326959-G-A p.Arg173Arg synonymous FBXW11 1 82964 1.20534E-5 41482 0 NA
5-171326960-C-A p.Arg173Leu missense FBXW11 4 82968 4.82114E-5 41484 0 2.2293E-4
5-171326961-G-A p.Arg173Cys missense FBXW11 4 82966 4.82125E-5 41483 0 1.19549E-5
5-171326975-A-G p.Ile168Thr missense FBXW11 1 82978 1.20514E-5 41489 0 5.03525E-4
5-171327006-T-C p.Ile158Val missense FBXW11 1 82880 1.20656E-5 41440 0 7.96825E-6
5-171327019-T-C p.Glu153Glu synonymous FBXW11 3 82828 3.62196E-5 41414 0 4.1195E-5
5-171327040-T-C p.Ala146Ala synonymous FBXW11 1 82792 1.20785E-5 41396 0 NA
5-171327048-G-A p.Leu144Leu synonymous FBXW11 1 82788 1.2079E-5 41394 0 NA
5-171327051-A-T p.Ser143Thr missense FBXW11 2 82766 2.41645E-5 41383 0 NA
5-171327067-C-T p.Ser137Ser synonymous FBXW11 2 82758 2.41668E-5 41379 0 5.03525E-4
5-171327068-G-A p.Ser137Leu missense FBXW11 2 82782 2.41598E-5 41391 0 3.99399E-6
5-171327106-T-TGGTAAAGCGGTAATAAAGTCCCGCTGC c.374-3_374-2insGCAGCGGGACTTTATTACCGCTTTACC splice_region FBXW11 2 82746 2.41704E-5 41373 1 NA
5-171337569-C-T c.373+7G>A splice_region FBXW11 1 82234 1.21604E-5 41117 0 6.36983E-5
5-171337570-A-T c.373+6T>A splice_region FBXW11 1 82262 1.21563E-5 41131 0 NA
5-171337584-G-A p.Ala122Val missense FBXW11 1 82460 1.21271E-5 41230 0 NA
5-171337591-T-C p.Ile120Val missense FBXW11 1 82598 1.21068E-5 41299 0 NA
5-171337604-C-T p.Leu115Leu synonymous FBXW11 1 82696 1.20925E-5 41348 0 7.98333E-6
5-171337614-T-C p.Lys112Arg missense FBXW11 1 82842 1.20712E-5 41421 0 3.18492E-5
5-171337656-C-T p.Arg98Gln missense FBXW11 1 83040 1.20424E-5 41520 0 8.25559E-6
5-171337726-A-G p.Leu75Leu synonymous FBXW11 1 83052 1.20406E-5 41526 0 7.97105E-6
5-171337730-T-C p.Lys73Lys synonymous FBXW11 1 83050 1.20409E-5 41525 0 NA
5-171337767-C-T p.Arg61Lys missense FBXW11 1 82802 1.2077E-5 41401 0 3.19203E-5
5-171337774-C-T p.Val59Ile missense FBXW11 1 82596 1.21071E-5 41298 0 3.33739E-5
5-171337775-G-A p.Ile58Ile synonymous FBXW11 9 82604 1.08954E-4 41302 0 1.08732E-4
5-171337783-A-T p.Ser56Thr missense FBXW11 1 82510 1.21197E-5 41255 0 4.1868E-6
5-171337792-C-T p.Gly53Arg missense FBXW11 1 82096 1.21809E-5 41048 0 4.64503E-6
5-171337801-T-C p.Ile50Val missense+splice_region FBXW11 2 81098 2.46615E-5 40549 0 NA
5-171341340-T-C c.108+7A>G splice_region FBXW11 26 82198 3.16309E-4 41099 0 0.005
5-171341368-T-G p.Pro29Pro synonymous FBXW11 1 82176 1.2169E-5 41088 0 NA
5-171341381-T-C p.Glu25Gly missense FBXW11 1 82166 1.21705E-5 41083 0 4.20105E-6
5-171341390-T-C p.Asp22Gly missense FBXW11 1 82152 1.21726E-5 41076 0 NA
5-171341396-A-G p.Met1? start_lost FBXW11 4 82138 4.86985E-5 41069 0 1.24245E-5
5-171341411-TA-T c.46-3delT splice_region FBXW11 2 81976 2.43974E-5 40988 0 9.57182E-5
5-171341412-AG-A c.46-4delC splice_region FBXW11 14 81956 1.70823E-4 40978 0 1.19917E-4
5-171341412-A-AG c.46-4_46-3insC splice_region FBXW11 1 81928 1.22058E-5 40964 0 4.26371E-4
5-171341415-G-A c.46-6C>T splice_region FBXW11 2 81884 2.44248E-5 40942 0 7.99084E-5
5-171341417-G-A c.46-8C>T splice_region FBXW11 2 81806 2.44481E-5 40903 0 5.11891E-6
5-171384606-G-C p.Leu48Val missense FBXW11 1 82344 1.21442E-5 41172 0 8.29256E-6
5-171384620-G-C p.Pro43Arg missense FBXW11 1 82278 1.21539E-5 41139 0 3.18329E-5
5-171384665-T-C p.Asn28Ser missense FBXW11 1 81886 1.22121E-5 40943 0 8.29944E-6
5-171384665-T-G p.Asn28Thr missense FBXW11 2 81886 2.44242E-5 40943 0 3.99208E-6
5-171384694-C-A p.Val18Val synonymous FBXW11 1 81700 1.22399E-5 40850 0 8.30689E-6
5-171423996-T-C p.Glu35Glu synonymous FBXW11 2 75584 2.64606E-5 37792 0 NA
5-171424033-AT-A p.Ile23fs frameshift FBXW11 1 75558 1.32349E-5 37779 0 8.12876E-5
5-171424051-G-A p.Pro17Leu missense FBXW11 3 75506 3.97319E-5 37753 0 8.14863E-5
5-171424056-C-T c.46-1G>A splice_acceptor FBXW11 1 75480 1.32485E-5 37740 0 NA
5-171433463-A-G p.Met15Thr missense+splice_region FBXW11 3 76046 3.94498E-5 38023 0 3.28378E-5
5-171433473-T-C p.Ile12Val missense FBXW11 2 76160 2.62605E-5 38080 0 6.57895E-5
5-171433485-C-G p.Glu8Gln missense FBXW11 1 76046 1.31499E-5 38023 0 NA
5-171433493-G-A p.Ser5Leu missense FBXW11 4 75770 5.27913E-5 37885 0 9.27472E-5
5-171433498-G-C p.Pro3Pro synonymous FBXW11 1 75608 1.32261E-5 37804 0 NA
5-171433502-T-C p.Glu2Gly missense FBXW11 1 75514 1.32426E-5 37757 0 1.49669E-5
5-171433574-G-A c.-68C>T 5_prime_UTR_premature_start_codon_gain FBXW11 1 71636 1.39595E-5 35818 0 3.19285E-5
5-171433587-G-A c.-81C>T 5_prime_UTR_premature_start_codon_gain FBXW11 3 71512 4.1951E-5 35756 0 2.5546E-4
5-171433592-G-A c.-86C>T 5_prime_UTR_premature_start_codon_gain FBXW11 1 71242 1.40367E-5 35621 0 NA
5-171433598-G-A c.-92C>T 5_prime_UTR_premature_start_codon_gain FBXW11 2 70878 2.82175E-5 35439 0 NA
5-171433610-C-A c.-104G>T 5_prime_UTR_premature_start_codon_gain FBXW11 1 71360 1.40135E-5 35680 0 NA
5-171433615-T-C c.-109A>G 5_prime_UTR_premature_start_codon_gain FBXW11 20 70886 2.82143E-4 35443 0 0.00192135
5-171433658-C-A c.-152G>T 5_prime_UTR_premature_start_codon_gain FBXW11 2 70846 2.82302E-5 35423 0 2.23172E-4
5-171433718-G-A c.-212C>T 5_prime_UTR_premature_start_codon_gain FBXW11 2 70482 2.8376E-5 35241 0 3.18776E-5
5-171433787-T-A c.-281A>T 5_prime_UTR_premature_start_codon_gain FBXW11 15 69984 2.14335E-4 34992 0 2.23143E-4
5-171433812-T-C c.-306A>G 5_prime_UTR_premature_start_codon_gain FBXW11 3 69268 4.331E-5 34634 0 NA