Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
9-33524459-G-T c.-29G>T 5_prime_UTR_premature_start_codon_gain ANKRD18B 1 78852 1.2682E-5 39426 0 NA
9-33524481-C-T c.-7C>T 5_prime_UTR_premature_start_codon_gain ANKRD18B 2 79770 2.50721E-5 39885 0 6.39264E-5
9-33524493-G-A p.Arg2Arg synonymous ANKRD18B 69 80200 8.60349E-4 40100 0 0.00169199
9-33524512-A-G p.Arg9Gly missense ANKRD18B 69 80414 8.5806E-4 40207 0 5.43444E-4
9-33524523-C-T p.Gly12Gly synonymous ANKRD18B 1 80496 1.2423E-5 40248 0 6.38651E-6
9-33524530-C-T p.Leu15Phe missense ANKRD18B 1 80548 1.2415E-5 40274 0 NA
9-33524535-G-C p.Leu16Leu synonymous ANKRD18B 1 80612 1.24051E-5 40306 0 NA
9-33524540-C-A p.Ser18Tyr missense ANKRD18B 1 80632 1.2402E-5 40316 0 6.36375E-6
9-33524549-A-G p.Gln21Arg missense ANKRD18B 3 80682 3.7183E-5 40341 0 NA
9-33524553-G-A p.Glu22Glu synonymous ANKRD18B 1 80682 1.23943E-5 40341 0 NA
9-33524557-G-A p.Ala24Thr missense ANKRD18B 1 80662 1.23974E-5 40331 0 NA
9-33524558-C-A p.Ala24Glu missense ANKRD18B 2 80664 2.47942E-5 40332 0 NA
9-33524563-C-CG p.Tyr28fs frameshift ANKRD18B 110 80668 0.00136361 40334 0 0.00103508
9-33524577-TC-AA p.IleArg30IleArg synonymous ANKRD18B 1 80688 1.23934E-5 40344 0 NA
9-33524577-T-A p.Ile30Ile synonymous ANKRD18B 1 80688 1.23934E-5 40344 0 6.33947E-6
9-33524578-C-A p.Arg31Arg synonymous ANKRD18B 1 80680 1.23946E-5 40340 0 6.33939E-6
9-33524599-A-T p.Ile38Phe missense ANKRD18B 1 80670 1.23962E-5 40335 0 3.18674E-5
9-33524611-G-A p.Ala42Thr missense ANKRD18B 20 80628 2.48053E-4 40314 0 2.76447E-4
9-33524615-T-C p.Ile43Thr missense ANKRD18B 1 80606 1.2406E-5 40303 0 NA
9-33524618-A-G p.Lys44Arg missense ANKRD18B 1 80614 1.24048E-5 40307 0 3.2267E-4
9-33524634-G-A p.Glu49Glu synonymous ANKRD18B 1 80562 1.24128E-5 40281 0 3.18492E-5
9-33524649-G-C p.Leu54Leu synonymous ANKRD18B 1 80400 1.24378E-5 40200 0 NA
9-33524649-G-A p.Leu54Leu synonymous ANKRD18B 1 80400 1.24378E-5 40200 0 3.18532E-5
9-33524658-G-A p.Arg57Arg synonymous ANKRD18B 2 80218 2.49321E-5 40109 0 NA
9-33524662-C-T p.Arg59Trp missense ANKRD18B 2 80132 2.49588E-5 40066 0 6.35995E-6
9-33524663-G-A p.Arg59Gln missense ANKRD18B 7 80128 8.73602E-5 40064 0 1.85856E-4
9-33524682-C-CA p.Arg66fs frameshift ANKRD18B 1 79608 1.25616E-5 39804 0 3.19326E-5
9-33524684-G-A p.Arg66Lys missense ANKRD18B 58696 77398 0.758366 38699 22495 0.797962
9-33524691-CAGGT-C p.Arg69fs frameshift ANKRD18B 1 79510 1.2577E-5 39755 0 NA
9-33524694-G-T c.206+1G>T splice_donor ANKRD18B 1 79422 1.2591E-5 39711 0 1.06394E-4
9-33524697-GC-AA c.206+4_206+5delGCinsAA splice_region ANKRD18B 205 79234 0.00258727 39617 1 NA
9-33524697-G-A c.206+4G>A splice_region ANKRD18B 37 79242 4.66924E-4 39621 0 0.00621692
9-33524697-G-GCT c.206+4_206+5insCT splice_region ANKRD18B 1 79242 1.26196E-5 39621 0 NA
9-33524698-C-A c.206+5C>A splice_region ANKRD18B 38 79136 4.80186E-4 39568 0 0.0062201
9-33524699-G-C c.206+6G>C splice_region ANKRD18B 2 79154 2.52672E-5 39577 0 6.52929E-6
9-33524699-G-A c.206+6G>A splice_region ANKRD18B 2 79154 2.52672E-5 39577 0 NA
9-33524700-G-A c.206+7G>A splice_region ANKRD18B 1 79106 1.26413E-5 39553 0 NA
9-33528718-C-G c.207-7C>G splice_region ANKRD18B 1 82944 1.20563E-5 41472 0 1.35391E-5
9-33528723-A-C c.207-2A>C splice_acceptor ANKRD18B 2 83040 2.40848E-5 41520 0 NA
9-33528735-C-T p.His73Tyr missense ANKRD18B 1 83166 1.20241E-5 41583 0 6.36862E-5
9-33528740-G-C p.Leu74Phe missense ANKRD18B 4 83218 4.80665E-5 41609 0 3.18512E-5
9-33528747-G-A p.Ala77Thr missense ANKRD18B 9 83270 1.08082E-4 41635 0 6.36862E-5
9-33528749-C-T p.Ala77Ala synonymous ANKRD18B 1 83272 1.20088E-5 41636 0 NA
9-33528757-G-A p.Arg80His missense ANKRD18B 3 83298 3.60153E-5 41649 0 3.1835E-5
9-33528758-T-C p.Arg80Arg synonymous ANKRD18B 1 83302 1.20045E-5 41651 0 NA
9-33528760-T-A p.Val81Glu missense ANKRD18B 1 83312 1.20031E-5 41656 0 9.72706E-6
9-33528774-C-A p.Leu86Ile missense ANKRD18B 1 83334 1.19999E-5 41667 0 4.84571E-5
9-33528794-C-G p.Cys92Trp missense ANKRD18B 1 83360 1.19962E-5 41680 0 1.91022E-4
9-33528813-A-G p.Arg99Gly missense ANKRD18B 3 83366 3.59859E-5 41683 0 3.42513E-5
9-33528824-G-A p.Arg102Arg synonymous ANKRD18B 1 83352 1.19973E-5 41676 0 1.21533E-5
9-33528834-A-G p.Met106Val missense ANKRD18B 1 83344 1.19985E-5 41672 0 4.29564E-6
9-33528838-A-T p.Lys107Met missense+splice_region ANKRD18B 1 83328 1.20008E-5 41664 0 1.32904E-5
9-33528840-G-T c.321+1G>T splice_donor ANKRD18B 2 83334 2.39998E-5 41667 0 NA
9-33528992-T-G c.322-6T>G splice_region ANKRD18B 2 82680 2.41896E-5 41340 0 1.60027E-5
9-33528994-A-G c.322-4A>G splice_region ANKRD18B 1 82702 1.20916E-5 41351 0 9.54988E-5
9-33528995-T-C c.322-3T>C splice_region ANKRD18B 1 82704 1.20913E-5 41352 0 6.36821E-5
9-33528999-C-T p.Ala108Val missense+splice_region ANKRD18B 3 82716 3.62687E-5 41358 0 3.99198E-6
9-33529001-G-A p.Val109Ile missense ANKRD18B 1 82720 1.2089E-5 41360 0 3.99096E-6
9-33529019-G-T p.Ala115Ser missense ANKRD18B 1 82740 1.20861E-5 41370 0 4.1531E-5
9-33529031-A-T p.Ile119Phe missense ANKRD18B 1 82706 1.2091E-5 41353 0 8.29352E-6
9-33529033-T-G p.Ile119Met missense ANKRD18B 1 82722 1.20887E-5 41361 0 3.98902E-6
9-33529038-T-C p.Leu121Pro missense ANKRD18B 2 82676 2.41908E-5 41338 0 NA
9-33529043-C-T p.Arg123Cys missense ANKRD18B 12 82620 1.45243E-4 41310 0 1.07735E-4
9-33529044-G-A p.Arg123His missense ANKRD18B 6 82588 7.26498E-5 41294 0 6.37308E-5
9-33529044-G-C p.Arg123Pro missense ANKRD18B 1 82588 1.21083E-5 41294 0 NA
9-33529048-C-T p.Gly124Gly synonymous ANKRD18B 2 82574 2.42207E-5 41287 0 3.18512E-5
9-33529049-G-A p.Ala125Thr missense ANKRD18B 2 82564 2.42236E-5 41282 0 6.37064E-5
9-33529060-C-T p.Asn128Asn synonymous ANKRD18B 1 82480 1.21242E-5 41240 0 3.18532E-5
9-33529061-A-G p.Ile129Val missense ANKRD18B 4 82476 4.8499E-5 41238 0 7.97798E-5
9-33529070-AT-A p.Ile132fs frameshift ANKRD18B 1 82390 1.21374E-5 41195 0 NA
9-33529074-ACGG-A p.Gly134del conservative_inframe_deletion ANKRD18B 1 82332 1.21459E-5 41166 0 NA
9-33529076-G-A p.Gly134Ser missense ANKRD18B 4 82282 4.86133E-5 41141 0 3.18613E-5
9-33529077-G-A p.Gly134Asp missense ANKRD18B 1 82278 1.21539E-5 41139 0 3.18471E-5
9-33529079-A-C p.Asn135His missense ANKRD18B 1 82248 1.21584E-5 41124 0 3.98924E-6
9-33529083-C-T p.Thr136Ile missense ANKRD18B 2 82214 2.43268E-5 41107 0 NA
9-33529086-C-T p.Ala137Val missense ANKRD18B 1 82166 1.21705E-5 41083 0 3.18431E-5
9-33529100-G-A p.Val142Met missense ANKRD18B 2 81908 2.44176E-5 40954 0 NA
9-33529109-G-A p.Glu145Lys missense ANKRD18B 1 81698 1.22402E-5 40849 0 NA
9-33529115-AC-A p.Thr147fs frameshift ANKRD18B 1 81502 1.22696E-5 40751 0 8.38012E-6
9-33529119-C-A p.Ser148* stop_gained ANKRD18B 49 81418 6.01833E-4 40709 0 6.25E-4
9-33529120-A-G p.Ser148Ser synonymous ANKRD18B 3 81396 3.68568E-5 40698 0 3.19397E-5
9-33529133-C-T p.Leu153Leu synonymous ANKRD18B 2 81170 2.46396E-5 40585 0 3.18451E-5
9-33529143-A-G p.His156Arg missense ANKRD18B 2 80992 2.46938E-5 40496 0 NA
9-33529155-T-C p.Ile160Thr missense ANKRD18B 1 80756 1.2383E-5 40378 0 6.3674E-5
9-33529161-C-G p.Ala162Gly missense ANKRD18B 3 80626 3.72088E-5 40313 0 6.3678E-5
9-33529177-G-C c.495+6G>C splice_region ANKRD18B 1 80314 1.24511E-5 40157 0 NA
9-33533447-C-T p.Thr169Ile missense ANKRD18B 2 80644 2.48004E-5 40322 0 6.37186E-5
9-33533461-G-T p.Ala174Ser missense ANKRD18B 1 80952 1.2353E-5 40476 0 NA
9-33533471-C-T p.Ser177Phe missense ANKRD18B 3 81182 3.6954E-5 40591 0 4.7931E-5
9-33533487-G-A p.Met182Ile missense ANKRD18B 1 81420 1.2282E-5 40710 0 NA
9-33533500-T-C p.Leu187Leu synonymous ANKRD18B 2 81500 2.45399E-5 40750 0 NA
9-33533525-C-T p.Ala195Val missense ANKRD18B 3 81586 3.6771E-5 40793 0 1.51231E-5
9-33533526-C-T p.Ala195Ala synonymous ANKRD18B 3 81562 3.67818E-5 40781 0 1.51233E-5
9-33533545-T-G c.602+2T>G splice_donor ANKRD18B 3 81644 3.67449E-5 40822 0 2.21913E-5
9-33533545-T-C c.602+2T>C splice_donor ANKRD18B 3 81646 3.6744E-5 40823 0 7.39711E-6
9-33534381-C-T p.Leu206Phe missense ANKRD18B 1 79740 1.25408E-5 39870 0 NA
9-33534399-T-C p.Leu212Leu synonymous ANKRD18B 1 79960 1.25063E-5 39980 0 6.40262E-6
9-33534400-TGTCAA-T p.Ser213fs frameshift ANKRD18B 2 79964 2.50113E-5 39982 0 NA
9-33534410-C-T p.Ile215Ile synonymous ANKRD18B 8 79950 1.00063E-4 39975 0 8.84663E-4
9-33534410-C-G p.Ile215Met missense ANKRD18B 2 79954 2.50144E-5 39977 0 6.37227E-5
9-33534411-G-A p.Val216Ile missense ANKRD18B 3 79958 3.75197E-5 39979 0 1.59317E-4
9-33534443-C-T p.Ile226Ile synonymous ANKRD18B 1 79954 1.25072E-5 39977 0 NA
9-33534455-C-T p.Asp230Asp synonymous ANKRD18B 1 79898 1.2516E-5 39949 0 4.68735E-5
9-33534463-G-A p.Gly233Asp missense ANKRD18B 1 79876 1.25194E-5 39938 0 NA
9-33534465-C-A p.Gln234Lys missense ANKRD18B 1 79866 1.2521E-5 39933 0 NA
9-33534469-C-T p.Thr235Ile missense ANKRD18B 1 79858 1.25222E-5 39929 0 NA
9-33534473-C-T p.Ala236Ala synonymous ANKRD18B 131 79824 0.00164111 39912 1 0.00295567
9-33534474-G-A p.Glu237Lys missense ANKRD18B 3 79834 3.7578E-5 39917 0 6.43112E-6
9-33536894-G-A p.Leu253Leu synonymous ANKRD18B 2 77714 2.57354E-5 38857 0 3.18756E-5
9-33536905-A-G p.Asn257Ser missense ANKRD18B 2 77696 2.57414E-5 38848 0 NA
9-33536912-G-A p.Met259Ile missense ANKRD18B 1 77676 1.2874E-5 38838 0 NA
9-33536928-C-T p.Arg265* stop_gained ANKRD18B 1 77562 1.28929E-5 38781 0 3.18552E-5
9-33536929-G-T p.Arg265Leu missense ANKRD18B 1 77514 1.29009E-5 38757 0 NA
9-33536932-A-G p.Asn266Ser missense ANKRD18B 1 77530 1.28982E-5 38765 0 NA
9-33536947-A-G c.808+4A>G splice_region ANKRD18B 5 77316 6.46697E-5 38658 0 2.47967E-4
9-33539500-G-T n.320G>T splice_region ANKRD18B 1 46540 2.14869E-5 23270 0 NA
9-33541161-G-A p.Lys275Lys synonymous ANKRD18B 1 81182 1.2318E-5 40591 0 NA
9-33541171-T-C p.Leu279Leu synonymous ANKRD18B 1 81104 1.23298E-5 40552 0 NA
9-33541173-G-GA p.Arg282fs frameshift ANKRD18B 7 81090 8.63238E-5 40545 0 1.92623E-4
9-33541173-GAAAAAAAGA-G p.Arg285_Lys287del conservative_inframe_deletion ANKRD18B 7 81090 8.63238E-5 40545 0 4.97859E-5
9-33541173-GA-G p.Arg282fs frameshift ANKRD18B 1 81090 1.2332E-5 40545 0 NA
9-33541176-A-AGTG p.Lys280_Lys281insVal conservative_inframe_insertion ANKRD18B 1 81100 1.23305E-5 40550 0 NA
9-33541178-A-AG p.Arg282fs frameshift ANKRD18B 1 81064 1.23359E-5 40532 0 NA
9-33541178-A-ATGGCATCT p.Lys281fs frameshift ANKRD18B 1 81064 1.23359E-5 40532 0 NA
9-33541179-A-C p.Lys281Asn missense ANKRD18B 1 81064 1.23359E-5 40532 0 6.59961E-6
9-33541181-GA-G p.Arg285fs frameshift ANKRD18B 3 81036 3.70206E-5 40518 0 2.04873E-5
9-33541181-G-A p.Arg282Lys missense ANKRD18B 1 81036 1.23402E-5 40518 0 6.82911E-5
9-33541190-G-GA p.Leu288fs frameshift ANKRD18B 2 80982 2.46968E-5 40491 0 6.61481E-6
9-33541200-GA-G p.Arg291fs frameshift ANKRD18B 1 80870 1.23655E-5 40435 0 1.31797E-5
9-33541216-G-C p.Gly294Arg missense ANKRD18B 5 80422 6.2172E-5 40211 0 0.0907392
9-33541221-A-C p.Ala295Ala synonymous ANKRD18B 2 80626 2.48059E-5 40313 0 NA
9-33541222-A-G p.Lys296Glu missense ANKRD18B 1 80594 1.24079E-5 40297 0 3.18451E-5
9-33541225-G-A p.Ala297Thr missense+splice_region ANKRD18B 4 80542 4.96635E-5 40271 0 0.00108342
9-33543182-G-A c.140-1G>A splice_acceptor ANKRD18B 1 80244 1.2462E-5 40122 0 2.27811E-4
9-33543187-C-A p.His299Gln missense ANKRD18B 1 80304 1.24527E-5 40152 0 NA
9-33543194-A-G p.Lys302Glu missense ANKRD18B 1 80434 1.24326E-5 40217 0 NA
9-33543203-T-A p.Ser305Thr missense ANKRD18B 2 80498 2.48453E-5 40249 0 NA
9-33543207-A-G p.Glu306Gly missense ANKRD18B 2 80556 2.48275E-5 40278 0 3.18573E-5
9-33543208-G-C p.Glu306Asp missense ANKRD18B 3 80548 3.72449E-5 40274 0 NA
9-33543208-G-A p.Glu306Glu synonymous ANKRD18B 1 80548 1.2415E-5 40274 0 6.14303E-6
9-33543217-A-G p.Gln309Gln synonymous ANKRD18B 28 80580 3.47481E-4 40290 0 6.49351E-4
9-33543223-G-A p.Arg311Arg synonymous ANKRD18B 5 80516 6.20995E-5 40258 0 9.00901E-5
9-33543231-G-T p.Arg314Ile missense ANKRD18B 1 80412 1.2436E-5 40206 0 6.22401E-6
9-33543234-G-A p.Ser315Asn missense ANKRD18B 2 80326 2.48985E-5 40163 0 1.91253E-4
9-33543240-A-C p.Asn317Thr missense ANKRD18B 1 80276 1.2457E-5 40138 0 NA
9-33543249-C-T p.Pro320Leu missense ANKRD18B 2 79918 2.50257E-5 39959 0 4.58295E-5
9-33543250-G-C p.Pro320Pro synonymous ANKRD18B 4 79858 5.00889E-5 39929 0 6.33673E-6
9-33543255-T-C c.963+2T>C splice_donor ANKRD18B 1 79520 1.25755E-5 39760 0 NA
9-33543259-T-C c.963+6T>C splice_region ANKRD18B 1 79370 1.25992E-5 39685 0 NA
9-33547935-G-A c.964-1G>A splice_acceptor ANKRD18B 1 75730 1.32048E-5 37865 0 NA
9-33547956-AAAG-A p.Lys330del conservative_inframe_deletion ANKRD18B 239 77132 0.00309858 38566 0 0.0035893
9-33547961-A-G p.Lys330Arg missense ANKRD18B 1 77238 1.2947E-5 38619 0 3.61568E-5
9-33547970-T-C p.Met333Thr missense ANKRD18B 3 77692 3.8614E-5 38846 0 2.18771E-5
9-33547970-T-A p.Met333Lys missense ANKRD18B 1 77692 1.28713E-5 38846 0 NA
9-33547974-T-C p.Phe334Phe synonymous ANKRD18B 2 78034 2.56299E-5 39017 0 6.37349E-5
9-33547994-G-C p.Arg341Thr missense ANKRD18B 2 78384 2.55154E-5 39192 0 1.27437E-4
9-33547998-C-T p.Asp342Asp synonymous ANKRD18B 1 78424 1.27512E-5 39212 0 1.78272E-5
9-33548008-C-G p.Leu346Val missense ANKRD18B 1 78322 1.27678E-5 39161 0 NA
9-33548023-T-C p.Tyr351His missense ANKRD18B 2 78264 2.55545E-5 39132 0 3.01514E-5
9-33548030-T-TA p.Asn355fs frameshift ANKRD18B 1 78148 1.27962E-5 39074 0 NA
9-33548037-T-A p.Asn355Lys missense ANKRD18B 1 78060 1.28107E-5 39030 0 NA
9-33548040-C-G p.Asp356Glu missense ANKRD18B 2 78022 2.56338E-5 39011 0 7.50616E-6
9-33548058-G-T p.Lys362Asn missense ANKRD18B 27 78028 3.4603E-4 39014 0 1.75508E-4
9-33548060-A-G p.Lys363Arg missense ANKRD18B 1 78058 1.2811E-5 39029 0 3.18492E-5
9-33548066-T-C p.Ile365Thr missense ANKRD18B 2 78042 2.56272E-5 39021 0 NA
9-33548070-GGA-TGC p.GlnGlu366HisAla missense ANKRD18B 1 77992 1.28218E-5 38996 0 NA
9-33548076-T-C p.Ile368Ile synonymous ANKRD18B 1 77998 1.28208E-5 38999 0 NA
9-33548078-A-T p.Lys369Ile missense ANKRD18B 1 78022 1.28169E-5 39011 0 NA
9-33548082-T-C p.Ser370Ser synonymous ANKRD18B 1 78030 1.28156E-5 39015 0 NA
9-33548096-A-T p.Asn375Ile missense ANKRD18B 1071 78022 0.0137269 39011 26 0.0274361
9-33548099-C-T p.Ala376Val missense ANKRD18B 2 78066 2.56193E-5 39033 0 1.63348E-4
9-33548106-T-C p.Phe378Phe synonymous ANKRD18B 2 78116 2.56029E-5 39058 0 NA
9-33548107-G-A p.Glu379Lys missense ANKRD18B 1 78128 1.27995E-5 39064 0 NA
9-33548116-G-A p.Val382Ile missense ANKRD18B 2 78166 2.55866E-5 39083 0 2.96092E-4
9-33548127-T-C p.Asn385Asn synonymous ANKRD18B 2 78188 2.55794E-5 39094 0 4.85625E-5
9-33548136-G-T p.Met388Ile missense ANKRD18B 1 78172 1.27923E-5 39086 0 NA
9-33548138-TAAC-T p.Thr390del disruptive_inframe_deletion ANKRD18B 6 78164 7.67617E-5 39082 0 7.89617E-5
9-33548145-A-AC p.Lys392fs frameshift ANKRD18B 1 78194 1.27887E-5 39097 0 NA
9-33548157-G-A p.Gln395Gln synonymous ANKRD18B 1 78178 1.27913E-5 39089 0 NA
9-33548162-C-T p.Ser397Leu missense ANKRD18B 1 78154 1.27953E-5 39077 0 6.82398E-6
9-33548163-G-A p.Ser397Ser synonymous ANKRD18B 16 78150 2.04734E-4 39075 0 6.25E-4
9-33548175-T-C p.Asn401Asn synonymous ANKRD18B 6685 77976 0.0857315 38988 264 0.0964229
9-33548177-A-G p.Asp402Gly missense ANKRD18B 10 78142 1.27972E-4 39071 0 1.19306E-4
9-33548178-T-A p.Asp402Glu missense ANKRD18B 4 78150 5.11836E-5 39075 0 9.55536E-5
9-33548201-T-G p.Leu410Arg missense ANKRD18B 1 78142 1.27972E-5 39071 0 NA
9-33548211-A-C p.Lys413Asn missense ANKRD18B 1 78124 1.28002E-5 39062 0 NA
9-33548228-A-G p.His419Arg missense ANKRD18B 1 78176 1.27916E-5 39088 0 NA
9-33548231-A-G p.Asn420Ser missense ANKRD18B 1 78176 1.27916E-5 39088 0 NA
9-33548232-C-A p.Asn420Lys missense ANKRD18B 1 78178 1.27913E-5 39089 0 NA
9-33548253-A-G p.Glu427Glu synonymous ANKRD18B 1 78166 1.27933E-5 39083 0 NA
9-33548263-C-T p.Leu431Phe missense ANKRD18B 2 78164 2.55872E-5 39082 0 9.02935E-5
9-33548265-C-G p.Leu431Leu synonymous ANKRD18B 3 78168 3.83789E-5 39084 0 0.00125
9-33548266-C-T p.His432Tyr missense ANKRD18B 14 78172 1.79092E-4 39086 0 2.86606E-4
9-33548271-T-C p.Ser433Ser synonymous ANKRD18B 2 78174 2.5584E-5 39087 0 8.97666E-5
9-33548273-A-C p.Asn434Thr missense ANKRD18B 1 78180 1.2791E-5 39090 0 NA
9-33548292-T-C p.Asn440Asn synonymous ANKRD18B 4 78176 5.11666E-5 39088 1 4.44998E-5
9-33548298-C-T p.Tyr442Tyr synonymous ANKRD18B 3 78156 3.83848E-5 39078 0 4.43616E-5
9-33548302-G-A p.Glu444Lys missense ANKRD18B 1 78172 1.27923E-5 39086 0 NA
9-33548312-A-T p.Glu447Val missense ANKRD18B 1 78158 1.27946E-5 39079 0 1.32287E-4
9-33548338-T-C p.Trp456Arg missense ANKRD18B 86 78116 0.00110093 39058 0 0.00226158
9-33548355-T-A p.Val461Val synonymous ANKRD18B 9 78092 1.15249E-4 39046 0 8.76501E-5
9-33548414-T-C p.Leu481Pro missense ANKRD18B 1 77722 1.28664E-5 38861 0 6.50237E-6
9-33548421-A-G p.Glu483Glu synonymous ANKRD18B 56 77672 7.20981E-4 38836 0 0.00181494
9-33548430-T-C p.His486His synonymous ANKRD18B 1 77678 1.28737E-5 38839 0 NA
9-33548431-A-G p.Lys487Glu missense ANKRD18B 1 77670 1.2875E-5 38835 0 NA
9-33548436-T-G p.Ala488Ala synonymous ANKRD18B 14 77648 1.80301E-4 38824 0 4.49559E-5
9-33548438-G-A p.Arg489Gln missense ANKRD18B 1 77652 1.2878E-5 38826 0 5.21608E-5
9-33548440-G-T p.Val490Leu missense ANKRD18B 1 77646 1.2879E-5 38823 0 NA
9-33548440-G-A p.Val490Met missense ANKRD18B 1 77646 1.2879E-5 38823 0 NA
9-33548450-A-C p.Asn493Thr missense ANKRD18B 2 77680 2.57467E-5 38840 0 NA
9-33548450-A-G p.Asn493Ser missense ANKRD18B 1 77680 1.28733E-5 38840 0 NA
9-33548470-C-T p.Arg500Cys missense ANKRD18B 5 77694 6.4355E-5 38847 0 2.65895E-4
9-33548471-G-A p.Arg500His missense ANKRD18B 111 77702 0.00142853 38851 1 0.00334395
9-33548505-G-C p.Leu511Phe missense ANKRD18B 2 77850 2.56904E-5 38925 0 6.47216E-6
9-33548509-T-A p.Leu513Ile missense ANKRD18B 2 77864 2.56858E-5 38932 0 4.52629E-5
9-33548525-T-C p.Leu518Pro missense ANKRD18B 1 77888 1.28389E-5 38944 0 NA
9-33548532-A-G p.Leu520Leu synonymous ANKRD18B 210 77884 0.00269632 38942 1 0.00512674
9-33548540-C-T p.Ala523Val missense ANKRD18B 1 77882 1.28399E-5 38941 0 4.44129E-5
9-33548541-G-A p.Ala523Ala synonymous ANKRD18B 2 77868 2.56845E-5 38934 0 5.81892E-5
9-33548544-G-A p.Gln524Gln synonymous ANKRD18B 3 77910 3.8506E-5 38955 0 1.29234E-5
9-33548549-G-A p.Arg526Gln missense ANKRD18B 2 77918 2.5668E-5 38959 0 6.46195E-6
9-33548561-T-A p.Met530Lys missense ANKRD18B 1 77944 1.28297E-5 38972 0 NA
9-33548563-A-G p.Lys531Glu missense ANKRD18B 3 77952 3.84852E-5 38976 0 6.25E-4
9-33548571-G-T p.Met533Ile missense ANKRD18B 1 77914 1.28347E-5 38957 0 NA
9-33548605-A-G p.Ile545Val missense ANKRD18B 1 78018 1.28176E-5 39009 0 6.45203E-6
9-33548606-T-C p.Ile545Thr missense ANKRD18B 1 78022 1.28169E-5 39011 0 8.87548E-5
9-33548629-G-A p.Glu553Lys missense ANKRD18B 3 78094 3.84152E-5 39047 0 6.36699E-5
9-33548635-A-C p.Ile555Leu missense ANKRD18B 2 78124 2.56003E-5 39062 0 4.49479E-5
9-33548639-G-A p.Arg556His missense ANKRD18B 1 78126 1.27998E-5 39063 0 9.01226E-5
9-33548644-C-T p.Arg558* stop_gained ANKRD18B 3 78144 3.83907E-5 39072 0 9.03751E-5
9-33548645-G-A p.Arg558Gln missense ANKRD18B 2 78144 2.55938E-5 39072 0 3.18451E-5
9-33548657-A-T p.Asn562Ile missense ANKRD18B 12 78138 1.53574E-4 39069 0 6.68747E-4
9-33548668-G-C p.Glu566Gln missense ANKRD18B 1 78150 1.27959E-5 39075 0 NA
9-33548672-G-A p.Arg567Gln missense ANKRD18B 2 78152 2.55912E-5 39076 0 6.49621E-6
9-33548678-T-C p.Leu569Pro missense ANKRD18B 1 78146 1.27966E-5 39073 0 NA
9-33548680-G-T p.Glu570* stop_gained ANKRD18B 1 78164 1.27936E-5 39082 0 NA
9-33548682-G-A p.Glu570Glu synonymous ANKRD18B 49 78164 6.26887E-4 39082 0 9.55718E-4
9-33548689-C-G p.Arg573Gly missense ANKRD18B 1 78120 1.28008E-5 39060 0 NA
9-33548690-G-A p.Arg573His missense ANKRD18B 5655 77784 0.0727013 38892 240 0.11625
9-33548699-G-T p.Gly576Val missense ANKRD18B 25 78124 3.20004E-4 39062 0 3.22938E-4
9-33548718-C-T p.Val582Val synonymous ANKRD18B 2 78100 2.56082E-5 39050 0 1.30154E-5
9-33548727-C-T p.Ile585Ile synonymous ANKRD18B 3 78030 3.84468E-5 39015 0 6.25E-4
9-33548731-A-G p.Arg587Gly missense ANKRD18B 1 78016 1.28179E-5 39008 0 4.64857E-5
9-33548782-G-T p.Glu604* stop_gained ANKRD18B 12 77576 1.54687E-4 38788 0 1.9581E-4
9-33548785-T-A p.Leu605Ile missense ANKRD18B 1 77538 1.28969E-5 38769 0 6.79911E-6
9-33548790-G-A p.Met606Ile missense ANKRD18B 1 77508 1.29019E-5 38754 0 NA
9-33548802-T-C p.Asn610Asn synonymous ANKRD18B 4 77234 5.17907E-5 38617 0 2.18579E-4
9-33548818-C-A p.Leu616Met missense ANKRD18B 1 76874 1.30083E-5 38437 0 NA
9-33548840-AAGC-A p.Ala624del disruptive_inframe_deletion ANKRD18B 62 76452 8.10966E-4 38226 3 0.0082289
9-33548849-G-T p.Arg626Ile missense ANKRD18B 1 76262 1.31127E-5 38131 0 NA
9-33548861-T-C c.1881+8T>C splice_region ANKRD18B 1 75676 1.32142E-5 37838 0 NA
9-33548861-T-G c.1881+8T>G splice_region ANKRD18B 1 75676 1.32142E-5 37838 0 1.0694E-5
9-33550428-G-A p.Val628Met missense+splice_region ANKRD18B 1 77580 1.28899E-5 38790 0 NA
9-33550439-A-C p.Arg631Ser missense ANKRD18B 2 77712 2.57361E-5 38856 0 1.3679E-5
9-33550443-T-C p.Phe633Leu missense ANKRD18B 1 77734 1.28644E-5 38867 0 NA
9-33550446-CAAG-C p.Glu636del conservative_inframe_deletion ANKRD18B 6 77722 7.71982E-5 38861 0 6.37105E-5
9-33550460-C-T p.Val638Val synonymous ANKRD18B 3 77904 3.85089E-5 38952 0 6.55282E-6
9-33550461-G-A p.Asp639Asn missense ANKRD18B 9 77920 1.15503E-4 38960 0 1.85736E-4
9-33550482-A-G p.Met646Val missense ANKRD18B 7 78074 8.96585E-5 39037 0 1.27364E-4
9-33550483-T-C p.Met646Thr missense ANKRD18B 1 78074 1.28084E-5 39037 0 NA
9-33550485-T-A p.Ser647Thr missense ANKRD18B 1 78060 1.28107E-5 39030 0 6.4365E-6
9-33550489-A-G p.Glu648Gly missense ANKRD18B 2 78108 2.56056E-5 39054 0 NA
9-33550496-A-T p.Pro650Pro synonymous ANKRD18B 1 78106 1.28031E-5 39053 0 4.59643E-5
9-33550509-T-C p.Ser655Pro missense ANKRD18B 2 78120 2.56016E-5 39060 0 6.47442E-6
9-33550519-A-G p.His658Arg missense ANKRD18B 2 78080 2.56148E-5 39040 0 6.52955E-6
9-33550538-A-G p.Thr664Thr synonymous ANKRD18B 967 77940 0.012407 38970 21 0.02421
9-33550579-T-C c.2031+2T>C splice_donor ANKRD18B 1 77674 1.28743E-5 38837 0 NA
9-33550581-T-C c.2031+4T>C splice_region ANKRD18B 2 77648 2.57573E-5 38824 0 7.08878E-6
9-33550584-A-G c.2031+7A>G splice_region ANKRD18B 1 77610 1.28849E-5 38805 0 5.51207E-5
9-33550585-T-C c.2031+8T>C splice_region ANKRD18B 1 77608 1.28853E-5 38804 0 NA
9-33555701-TC-T c.2032-4delC splice_region ANKRD18B 7435 72650 0.10234 36325 424 0.131427
9-33555702-C-T c.2032-4C>T splice_region ANKRD18B 1 69926 1.43008E-5 34963 0 1.29752E-4
9-33555706-C-A p.Pro678Thr missense+splice_region ANKRD18B 1 72896 1.37182E-5 36448 0 3.22227E-5
9-33555719-A-G p.His682Arg missense ANKRD18B 14 74000 1.89189E-4 37000 0 1.96078E-4
9-33555725-A-C p.Glu684Ala missense ANKRD18B 1 74266 1.34651E-5 37133 0 3.18613E-5
9-33555751-T-C p.Ser693Pro missense ANKRD18B 2 74478 2.68536E-5 37239 0 NA
9-33555770-C-T p.Ala699Val missense ANKRD18B 9 73994 1.21631E-4 36997 0 3.73572E-4
9-33555771-G-A p.Ala699Ala synonymous ANKRD18B 14 74164 1.88771E-4 37082 0 4.14567E-4
9-33555782-G-A p.Arg703Lys missense ANKRD18B 2 74088 2.69949E-5 37044 0 3.19203E-5
9-33555786-G-T p.Lys704Asn missense ANKRD18B 1 74020 1.35099E-5 37010 0 5.55247E-5
9-33555794-G-A p.Arg707His missense ANKRD18B 11 73568 1.49522E-4 36784 0 3.97908E-4
9-33555800-TAGA-T p.Glu712del disruptive_inframe_deletion ANKRD18B 2 73804 2.70988E-5 36902 0 1.35973E-5
9-33555810-G-A p.Glu712Glu synonymous ANKRD18B 6 73110 8.20681E-5 36555 0 1.23594E-4
9-33558052-G-T c.2145-4G>T splice_region ANKRD18B 1 78170 1.27926E-5 39085 0 NA
9-33558059-T-C p.Tyr716Tyr synonymous ANKRD18B 2 78236 2.55637E-5 39118 0 4.47804E-6
9-33558066-T-C p.Cys719Arg missense ANKRD18B 3 78280 3.8324E-5 39140 1 2.03728E-4
9-33558076-T-C p.Met722Thr missense ANKRD18B 1 78396 1.27558E-5 39198 0 4.13371E-5
9-33558095-T-C p.Asn728Asn synonymous ANKRD18B 9 78490 1.14664E-4 39245 0 1.09893E-5
9-33558097-C-T p.Ala729Val missense ANKRD18B 31 78476 3.95025E-4 39238 0 3.8809E-4
9-33558097-C-A p.Ala729Glu missense ANKRD18B 1 78490 1.27405E-5 39245 0 NA
9-33558113-C-G p.Asp734Glu missense ANKRD18B 1349 78418 0.0172027 39209 19 0.0172463
9-33558115-T-C p.Phe735Ser missense ANKRD18B 2 78584 2.54505E-5 39292 0 NA
9-33558124-A-G p.His738Arg missense ANKRD18B 111 78562 0.0014129 39281 0 0.00378981
9-33558128-AG-A p.Asp740fs frameshift ANKRD18B 4 78576 5.09061E-5 39288 1 NA
9-33558143-C-A p.Asp744Glu missense ANKRD18B 1 78518 1.27359E-5 39259 0 NA
9-33558152-A-G p.Lys747Lys synonymous ANKRD18B 4 78486 5.09645E-5 39243 0 1.82852E-5
9-33558193-A-T c.2274+8A>T splice_region ANKRD18B 2 78042 2.56272E-5 39021 0 5.74383E-5
9-33566218-T-C p.Phe759Ser missense+splice_region ANKRD18B 1 78534 1.27333E-5 39267 0 NA
9-33566220-G-A p.Asp760Asn missense ANKRD18B 1 78544 1.27317E-5 39272 0 NA
9-33566223-G-T p.Asp761Tyr missense ANKRD18B 1 78578 1.27262E-5 39289 0 6.18039E-6
9-33566224-A-G p.Asp761Gly missense ANKRD18B 3 78580 3.81777E-5 39290 0 NA
9-33566234-C-T p.Ala764Ala synonymous ANKRD18B 13971 76046 0.183718 38023 1398 0.264834
9-33566235-G-A p.Glu765Lys missense ANKRD18B 1 78628 1.27181E-5 39314 0 6.36983E-5
9-33566254-CA-C p.Lys772fs frameshift ANKRD18B 1 78790 1.2692E-5 39395 0 NA
9-33566266-A-G p.Asn775Ser missense ANKRD18B 219 78808 0.00277891 39404 1 0.00531915
9-33566287-T-A p.Val782Asp missense ANKRD18B 18 78880 2.28195E-4 39440 0 6.6896E-4
9-33566310-A-G p.Met790Val missense ANKRD18B 2 78954 2.53312E-5 39477 0 3.73106E-5
9-33566310-A-T p.Met790Leu missense ANKRD18B 1 78952 1.26659E-5 39476 0 4.00829E-5
9-33566320-T-C p.Val793Ala missense ANKRD18B 1 78942 1.26675E-5 39471 0 NA
9-33566325-G-C p.Glu795Gln missense ANKRD18B 1 78964 1.2664E-5 39482 0 NA
9-33566347-A-C p.Lys802Thr missense ANKRD18B 1 78900 1.26743E-5 39450 0 NA
9-33566370-A-G p.Lys810Glu missense ANKRD18B 4823 75440 0.0639316 37720 224 0.0890151
9-33566382-C-T p.Leu814Phe missense ANKRD18B 1 78424 1.27512E-5 39212 0 NA
9-33566383-T-C p.Leu814Pro missense ANKRD18B 1 78390 1.27567E-5 39195 0 9.01526E-6
9-33566389-C-T p.Thr816Ile missense ANKRD18B 2 78168 2.55859E-5 39084 0 3.18959E-5
9-33566395-T-C p.Met818Thr missense ANKRD18B 64 78036 8.20134E-4 39018 0 0.00105381
9-33566395-T-A p.Met818Lys missense ANKRD18B 1 78044 1.28133E-5 39022 0 4.27639E-6
9-33566399-A-G p.Glu819Glu synonymous ANKRD18B 1 77914 1.28347E-5 38957 0 4.23801E-6
9-33566403-G-T p.Asp821Tyr missense ANKRD18B 10 77840 1.28469E-4 38920 0 1.05823E-4
9-33566406-A-G p.Met822Val missense ANKRD18B 2 77780 2.57136E-5 38890 0 NA
9-33566415-C-G p.Leu825Val missense ANKRD18B 1 77562 1.28929E-5 38781 0 2.53299E-4
9-33566426-A-T p.Val828Val synonymous ANKRD18B 9 77354 1.16348E-4 38677 0 6.5189E-4
9-33566427-C-A p.Gln829Lys missense ANKRD18B 6 77320 7.75996E-5 38660 0 5.51304E-5
9-33566440-C-T p.Ser833Leu missense ANKRD18B 3 77068 3.89267E-5 38534 0 7.52308E-4
9-33566440-CGGAGCTGGATGAAAGGGCAATGCAGG-C p.Glu834fs frameshift ANKRD18B 1 77070 1.29752E-5 38535 0 NA
9-33566441-G-A p.Ser833Ser synonymous ANKRD18B 6 77000 7.79221E-5 38500 0 7.83434E-5
9-33566452-A-G p.Glu837Gly missense ANKRD18B 2 76810 2.60383E-5 38405 0 8.25185E-6
9-33566459-A-C p.Ala839Ala synonymous ANKRD18B 1 76662 1.30443E-5 38331 0 3.84371E-5
9-33566463-C-T p.Gln841* stop_gained ANKRD18B 1 76572 1.30596E-5 38286 0 3.18674E-5
9-33566471-A-G p.Ile843Met missense ANKRD18B 1 76412 1.30869E-5 38206 0 1.91913E-5
9-33566473-A-C p.Glu844Ala missense ANKRD18B 2 76374 2.61869E-5 38187 0 NA
9-33566478-T-TC p.Leu846fs frameshift ANKRD18B 1 76310 1.31044E-5 38155 0 NA
9-33566479-T-A p.Leu846* stop_gained ANKRD18B 2 76282 2.62185E-5 38141 0 NA
9-33566492-T-C p.His850His synonymous ANKRD18B 1 76106 1.31396E-5 38053 0 4.29601E-6
9-33566504-T-C c.2556+6T>C splice_region ANKRD18B 1 76062 1.31472E-5 38031 0 4.03706E-5
9-33567094-G-C c.2557-7G>C splice_region ANKRD18B 1 78844 1.26833E-5 39422 0 NA
9-33567108-CA-C p.Glu856fs frameshift ANKRD18B 1 79270 1.26151E-5 39635 0 3.18857E-5
9-33567115-T-C p.Tyr857Tyr synonymous ANKRD18B 99 79386 0.00124707 39693 0 0.00216781
9-33567116-GA-G p.Lys859fs frameshift ANKRD18B 2 79450 2.51731E-5 39725 0 5.46986E-5
9-33567128-G-A p.Glu862Lys missense ANKRD18B 933 79516 0.0117335 39758 11 0.00979705
9-33567139-C-T p.Asn865Asn synonymous ANKRD18B 1 79718 1.25442E-5 39859 0 NA
9-33567146-AAT-A p.Thr869fs frameshift ANKRD18B 1 79772 1.25357E-5 39886 0 NA
9-33567149-A-G p.Thr869Ala missense ANKRD18B 13 79752 1.63005E-4 39876 1 1.09004E-4
9-33567150-C-T p.Thr869Met missense ANKRD18B 5 79730 6.27117E-5 39865 0 2.17936E-4
9-33567151-G-A p.Thr869Thr synonymous ANKRD18B 2086 79600 0.026206 39800 81 0.0368868
9-33567158-C-G p.Leu872Val missense ANKRD18B 1 79768 1.25364E-5 39884 0 NA
9-33567175-C-A p.Leu877Leu synonymous ANKRD18B 3 79882 3.75554E-5 39941 0 1.30656E-5
9-33567188-G-A p.Val882Met missense ANKRD18B 1 80052 1.24919E-5 40026 0 NA
9-33567192-A-G p.Glu883Gly missense ANKRD18B 1 80114 1.24822E-5 40057 0 3.18512E-5
9-33567224-G-A p.Glu894Lys missense ANKRD18B 1 80550 1.24146E-5 40275 0 NA
9-33567261-C-G p.Ala906Gly missense ANKRD18B 2 80412 2.48719E-5 40206 0 3.29998E-5
9-33567262-CT-C p.Phe907fs frameshift ANKRD18B 3 80400 3.73134E-5 40200 0 NA
9-33567267-C-T p.Ala908Val missense ANKRD18B 2 80344 2.4893E-5 40172 0 6.61148E-6
9-33567284-A-T p.Asn914Tyr missense ANKRD18B 5 80194 6.23488E-5 40097 0 NA
9-33567284-A-G p.Asn914Asp missense ANKRD18B 2 80194 2.49395E-5 40097 0 3.34529E-5
9-33567286-C-T p.Asn914Asn synonymous ANKRD18B 1 80166 1.24741E-5 40083 0 3.18552E-5
9-33567294-T-A p.Met917Lys missense ANKRD18B 1 80018 1.24972E-5 40009 0 4.14445E-5
9-33567299-G-GA p.Ile921fs frameshift ANKRD18B 1 79894 1.25166E-5 39947 0 NA
9-33567299-G-A p.Glu919Lys missense ANKRD18B 1 79894 1.25166E-5 39947 0 NA
9-33567309-C-T p.Thr922Met missense ANKRD18B 1 79606 1.25619E-5 39803 0 1.40188E-5
9-33567310-G-T p.Thr922Thr splice_region+synonymous ANKRD18B 1 79564 1.25685E-5 39782 0 NA
9-33567310-G-A p.Thr922Thr splice_region+synonymous ANKRD18B 2 79564 2.5137E-5 39782 0 5.47645E-5
9-33567315-A-C c.2768+3A>C splice_region ANKRD18B 1 79394 1.25954E-5 39697 0 NA
9-33568662-T-C c.2769-7T>C splice_region ANKRD18B 2 80572 2.48225E-5 40286 0 NA
9-33568669-A-G p.Lys923Lys splice_region+synonymous ANKRD18B 2 80664 2.47942E-5 40332 0 NA
9-33568670-T-C p.Ser924Pro missense+splice_region ANKRD18B 1 80678 1.2395E-5 40339 0 NA
9-33568671-C-T p.Ser924Leu missense+splice_region ANKRD18B 1 80684 1.2394E-5 40342 0 3.18573E-5
9-33568672-G-A p.Ser924Ser synonymous ANKRD18B 2 80714 2.47788E-5 40357 0 1.40459E-5
9-33568687-T-A p.Ala929Ala synonymous ANKRD18B 11817 80288 0.147183 40144 891 0.20375
9-33568691-A-G p.Ile931Val missense ANKRD18B 2 80948 2.47072E-5 40474 0 4.96623E-5
9-33568693-C-T p.Ile931Ile synonymous ANKRD18B 2 80954 2.47054E-5 40477 0 NA
9-33568709-A-G p.Met937Val missense ANKRD18B 2 81048 2.46767E-5 40524 0 NA
9-33568720-G-A p.Glu940Glu synonymous ANKRD18B 1 81078 1.23338E-5 40539 0 NA
9-33568721-C-T p.Arg941Trp missense ANKRD18B 9 81076 1.11007E-4 40538 0 2.04295E-4
9-33568722-G-A p.Arg941Gln missense ANKRD18B 9 81086 1.10993E-4 40543 0 6.25E-4
9-33568728-A-T p.Glu943Val missense ANKRD18B 1 81094 1.23314E-5 40547 0 NA
9-33568739-A-G p.Ser947Gly missense ANKRD18B 1 81110 1.23289E-5 40555 0 6.37999E-6
9-33568750-TA-T p.Met951fs frameshift ANKRD18B 7 81118 8.6294E-5 40559 0 7.65306E-5
9-33568762-C-T p.Asp954Asp synonymous ANKRD18B 5 81114 6.16416E-5 40557 0 4.58631E-5
9-33568762-C-A p.Asp954Glu missense ANKRD18B 1 81114 1.23283E-5 40557 0 7.3381E-4
9-33568763-C-T p.Pro955Ser missense ANKRD18B 5213 80884 0.0644503 40442 206 0.108125
9-33568776-G-A p.Cys959Tyr missense ANKRD18B 19 81118 2.34227E-4 40559 0 5.73394E-4
9-33568787-C-A p.Leu963Ile missense ANKRD18B 7 81112 8.63004E-5 40556 0 6.25782E-4
9-33568787-C-G p.Leu963Val missense ANKRD18B 1 81112 1.23286E-5 40556 0 NA
9-33568787-CTT-ATG p.Leu963Met missense ANKRD18B 1 81112 1.23286E-5 40556 0 NA
9-33568789-T-G p.Leu963Leu synonymous ANKRD18B 21498 80270 0.267821 40135 3183 0.312891
9-33568791-A-G p.Asn964Ser missense ANKRD18B 2 81122 2.46542E-5 40561 0 NA
9-33568792-T-C p.Asn964Asn synonymous ANKRD18B 1 81118 1.23277E-5 40559 0 NA
9-33568818-T-A p.Ile973Asn missense ANKRD18B 2 81120 2.46548E-5 40560 0 6.36902E-5
9-33568826-A-G p.Met976Val missense ANKRD18B 5 81104 6.16492E-5 40552 0 1.37036E-4
9-33568827-T-C p.Met976Thr missense ANKRD18B 3 81092 3.6995E-5 40546 0 4.11109E-4
9-33568831-C-T p.Ala977Ala synonymous ANKRD18B 1 81082 1.23332E-5 40541 0 NA
9-33568832-A-G p.Ile978Val missense ANKRD18B 1 81088 1.23323E-5 40544 0 1.27265E-5
9-33568836-G-T p.Arg979Ile missense ANKRD18B 3 81066 3.70069E-5 40533 0 NA
9-33568845-C-T p.Thr982Ile missense ANKRD18B 7 81026 8.6392E-5 40513 0 1.01828E-4
9-33568848-C-G p.Ser983* stop_gained ANKRD18B 1 81004 1.23451E-5 40502 0 NA
9-33568876-G-C p.Lys992Asn missense ANKRD18B 1 80584 1.24094E-5 40292 0 NA
9-33568884-T-A p.Leu995* stop_gained ANKRD18B 1 80470 1.2427E-5 40235 0 NA
9-33568885-G-A p.Leu995Leu synonymous ANKRD18B 6 80428 7.46009E-5 40214 0 2.62784E-5
9-33568899-A-G p.Tyr148Cys missense ANKRD18B 1 80222 1.24654E-5 40111 0 NA
9-33568901-A-G p.Met149Val missense ANKRD18B 1 80146 1.24772E-5 40073 0 NA
9-33568902-TG-T p.Met149fs frameshift ANKRD18B 1 80128 1.248E-5 40064 0 NA
9-33568905-C-T p.Thr150Ile missense ANKRD18B 1 80042 1.24934E-5 40021 0 NA
9-33568911-C-G p.Ser152Cys missense ANKRD18B 20 79746 2.50796E-4 39873 0 2.22873E-4
9-33568919-G-A p.Gly155Ser missense ANKRD18B 1 79400 1.25945E-5 39700 0 8.69248E-6
9-33568920-G-T p.Gly155Val missense ANKRD18B 1 79388 1.25964E-5 39694 0 NA
9-33568937-T-C p.Ter161Glnext*? stop_lost ANKRD18B 1 78288 1.27734E-5 39144 0 9.55049E-5
9-33571245-TG-T p.Glu380fs frameshift ANKRD18B 1 69662 1.4355E-5 34831 0 NA
9-33571259-G-A p.Ala384Thr missense ANKRD18B 4 71676 5.58067E-5 35838 0 NA
9-33571262-G-A p.Glu385Lys missense ANKRD18B 1 71782 1.39311E-5 35891 0 1.05124E-5
9-33571265-C-T p.Gln386* stop_gained ANKRD18B 66 71712 9.20348E-4 35856 0 0.00194988
9-33571277-G-C p.Glu390Gln missense ANKRD18B 1 71678 1.39513E-5 35839 0 NA
9-33571277-G-A p.Glu390Lys missense ANKRD18B 2 71678 2.79026E-5 35839 0 7.40412E-5
9-33571281-CAAAG-C p.Lys393fs frameshift ANKRD18B 1 71428 1.40001E-5 35714 0 6.39018E-5
9-33571286-A-C p.Lys393Gln missense ANKRD18B 1 71416 1.40025E-5 35708 0 NA
9-33571291-T-C p.Ser394Ser synonymous ANKRD18B 1 71334 1.40186E-5 35667 0 1.04175E-5
9-33571293-T-C p.Met395Thr missense ANKRD18B 1 71282 1.40288E-5 35641 0 NA
9-33571294-G-A p.Met395Ile missense ANKRD18B 1 71188 1.40473E-5 35594 0 NA
9-33571298-C-A p.Pro397Thr missense ANKRD18B 1 70952 1.4094E-5 35476 0 NA
9-33571300-A-C p.Pro397Pro synonymous ANKRD18B 1 71044 1.40758E-5 35522 0 NA
9-33571306-T-A p.Cys399* stop_gained ANKRD18B 926 70660 0.013105 35330 31 0.025481
9-33572323-C-T p.Arg1001Cys missense ANKRD18B 1 78366 1.27606E-5 39183 0 3.27243E-4
9-33572324-G-A p.Arg1001His missense ANKRD18B 7 78432 8.92493E-5 39216 0 9.55475E-5
9-33572324-G-T p.Arg1001Leu missense ANKRD18B 1 78432 1.27499E-5 39216 0 3.69788E-5
9-33572329-G-T p.Ala1003Ser missense ANKRD18B 3 78698 3.81204E-5 39349 0 NA
9-33572330-C-T p.Ala1003Val missense ANKRD18B 1 78736 1.27007E-5 39368 0 NA
9-33572335-G-C p.Ala1005Pro missense ANKRD18B 2 78982 2.53222E-5 39491 0 NA
9-33572337-T-C p.Ala1005Ala synonymous ANKRD18B 1 79050 1.26502E-5 39525 0 NA
9-33572339-C-G p.Pro1006Arg missense ANKRD18B 2 79134 2.52736E-5 39567 0 4.08123E-6
9-33572341-A-G p.Ile1007Val missense ANKRD18B 1 79182 1.26291E-5 39591 0 3.73426E-4
9-33572342-T-C p.Ile1007Thr missense ANKRD18B 1 79222 1.26228E-5 39611 0 4.08063E-6
9-33572347-T-C p.Phe1009Leu missense ANKRD18B 15139 78830 0.192046 39415 1464 0.216096
9-33572353-C-T p.Leu1011Phe missense ANKRD18B 1 79464 1.25843E-5 39732 0 0.0400809
9-33572355-C-G p.Leu1011Leu synonymous ANKRD18B 1 79510 1.2577E-5 39755 0 0.0430019