Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
9-112542774-A-C p.Ala2Ala synonymous AKAP2 2 83164 2.40489E-5 41582 0 3.97678E-6
9-112542777-G-A p.Glu3Glu synonymous AKAP2 1 83152 1.20262E-5 41576 0 8.23642E-6
9-112542781-G-T p.Glu5* stop_gained AKAP2 1 83058 1.20398E-5 41529 0 5.03525E-4
9-112542795-A-C p.Glu9Asp missense AKAP2 2 82766 2.41645E-5 41383 0 NA
9-112542803-A-G p.Gln12Arg missense AKAP2 10 82544 1.21148E-4 41272 0 2.22383E-4
9-112542813-A-T p.Ala15Ala splice_region+synonymous AKAP2 1 82330 1.21462E-5 41165 0 NA
9-112542817-A-C c.45+4A>C splice_region AKAP2 2 82306 2.42996E-5 41153 0 NA
9-112542820-C-T c.45+7C>T splice_region AKAP2 7 82336 8.50175E-5 41168 0 4.33655E-4
9-112629806-G-A p.Lys27Lys synonymous AKAP2 2 80406 2.48738E-5 40203 0 NA
9-112629807-C-T p.Arg28* stop_gained AKAP2 1 80414 1.24356E-5 40207 0 4.03213E-6
9-112629808-G-A p.Arg28Gln missense AKAP2 1 80406 1.24369E-5 40203 0 3.18593E-5
9-112629816-C-G p.Leu31Val missense AKAP2 1 80410 1.24363E-5 40205 0 NA
9-112629817-T-A p.Leu31His missense AKAP2 1 80406 1.24369E-5 40203 0 3.18512E-5
9-112629821-C-A p.Asp32Glu missense AKAP2 1 80402 1.24375E-5 40201 0 NA
9-112629821-C-T p.Asp32Asp synonymous AKAP2 2 80402 2.4875E-5 40201 0 2.42121E-5
9-112629830-A-G p.Ile35Met missense AKAP2 1 80398 1.24381E-5 40199 0 NA
9-112629848-C-G p.Ser41Ser synonymous AKAP2 1 80334 1.2448E-5 40167 0 4.04393E-6
9-112629850-A-C p.Lys42Thr missense+splice_region AKAP2 1 80328 1.2449E-5 40164 0 1.21333E-5
9-112629857-C-T c.126+6C>T splice_region AKAP2 1 80266 1.24586E-5 40133 0 9.55536E-5
9-112629858-A-G c.126+7A>G splice_region AKAP2 64060 77534 0.826218 38767 26572 0.860891
9-112642825-C-T c.127-6C>T splice_region AKAP2 1 79436 1.25888E-5 39718 0 2.01107E-5
9-112642826-C-T c.127-5C>T splice_region AKAP2 1 79440 1.25881E-5 39720 0 NA
9-112642835-A-T p.Lys44Ile missense AKAP2 5 79606 6.28093E-5 39803 0 1.91083E-4
9-112642839-G-T p.Val45Val synonymous AKAP2 1 79682 1.25499E-5 39841 0 NA
9-112642843-C-T p.Arg47Trp missense AKAP2 1 79728 1.25426E-5 39864 0 3.18492E-5
9-112642884-C-T p.Ala60Ala synonymous AKAP2 1 80000 1.25E-5 40000 0 6.37105E-5
9-112642885-G-A p.Glu61Lys missense AKAP2 2 80016 2.4995E-5 40008 0 0.00207254
9-112642893-G-A p.Glu63Glu synonymous AKAP2 23 80048 2.87328E-4 40024 0 0.00259067
9-112642906-C-T p.Arg68Trp missense AKAP2 1 80030 1.24953E-5 40015 0 2.47885E-5
9-112642907-G-C p.Arg68Pro missense AKAP2 3 80034 3.74841E-5 40017 0 1.20681E-5
9-112642910-A-T p.Gln69Leu missense AKAP2 1 80028 1.24956E-5 40014 0 8.26774E-6
9-112642911-G-T p.Gln69His missense AKAP2 1 80032 1.2495E-5 40016 0 2.0112E-5
9-112642920-G-A p.Glu72Glu synonymous AKAP2 2 80004 2.49987E-5 40002 0 NA
9-112642922-A-G p.Asp73Gly missense AKAP2 1 79992 1.25013E-5 39996 0 4.02282E-6
9-112642936-A-G p.Lys78Glu missense AKAP2 2 79950 2.50156E-5 39975 0 NA
9-112642945-G-A p.Glu81Lys missense AKAP2 1 79902 1.25153E-5 39951 0 8.35687E-6
9-112642950-T-C p.Asp82Asp synonymous AKAP2 54 79854 6.76234E-4 39927 0 8.80695E-4
9-112642952-A-G p.Asn83Ser missense AKAP2 1 79836 1.25257E-5 39918 0 NA
9-112642954-A-G p.Ile84Val missense AKAP2 1 79830 1.25266E-5 39915 0 5.18672E-4
9-112642954-A-C p.Ile84Leu missense AKAP2 1 79830 1.25266E-5 39915 0 6.73888E-5
9-112642961-G-A p.Arg86Lys missense+splice_region AKAP2 1 79724 1.25433E-5 39862 0 NA
9-112686035-C-T p.Thr93Met missense AKAP2 83 80298 0.00103365 40149 0 0.00210285
9-112686036-G-A p.Thr93Thr synonymous AKAP2 2 80290 2.49097E-5 40145 0 3.45503E-5
9-112686047-A-T p.Glu97Val missense AKAP2 1 80292 1.24545E-5 40146 0 2.15179E-5
9-112686057-G-A p.Gln100Gln synonymous AKAP2 7 80292 8.71818E-5 40146 0 9.55171E-5
9-112686061-T-C p.Ser102Pro missense AKAP2 2 80286 2.49109E-5 40143 0 4.14525E-5
9-112686076-A-ATCTT p.Ile108fs frameshift AKAP2 1 80276 1.2457E-5 40138 0 NA
9-112686095-A-G p.Lys113Arg missense AKAP2 1 80230 1.24642E-5 40115 0 3.27769E-5
9-112686101-C-A p.Thr115Lys missense AKAP2 1 80208 1.24676E-5 40104 0 NA
9-112686126-G-C p.Gln123His missense AKAP2 1 80204 1.24682E-5 40102 0 9.54988E-5
9-112686132-G-A c.372+3G>A splice_region AKAP2 3 80180 3.74158E-5 40090 0 NA
9-112686136-AAAACC-A c.372+8_372+12delAAACC splice_region AKAP2 1 80178 1.24722E-5 40089 0 NA
9-112687334-C-T c.373-7C>T splice_region AKAP2 1 80334 1.2448E-5 40167 0 NA
9-112687337-A-C c.373-4A>C splice_region AKAP2 1 80338 1.24474E-5 40169 0 NA
9-112687351-G-C p.Ser128Thr missense AKAP2 2 80342 2.48936E-5 40171 0 1.6866E-4
9-112687354-C-A p.Thr129Lys missense AKAP2 1 80338 1.24474E-5 40169 0 2.47133E-5
9-112687354-C-T p.Thr129Met missense AKAP2 14 80336 1.74268E-4 40168 0 2.71847E-4
9-112687369-G-A c.394+7G>A splice_region AKAP2 1 80326 1.24493E-5 40163 0 4.01571E-6
9-112694200-C-T c.395-7C>T splice_region AKAP2 1 79894 1.25166E-5 39947 0 8.29229E-6
9-112694202-A-G c.395-5A>G splice_region AKAP2 1 79910 1.25141E-5 39955 0 NA
9-112694202-AC-A c.395-4delC splice_region AKAP2 2 79910 2.50282E-5 39955 0 9.1123E-5
9-112694203-C-T c.395-4C>T splice_region AKAP2 2 79928 2.50225E-5 39964 0 NA
9-112694216-A-G p.Asn135Ser missense AKAP2 1 80000 1.25E-5 40000 0 NA
9-112694238-C-A p.Pro142Pro synonymous AKAP2 1 79938 1.25097E-5 39969 0 8.0391E-5
9-112694239-G-A p.Asp143Asn missense AKAP2 3 79912 3.75413E-5 39956 0 1.6083E-5
9-112694239-G-T p.Asp143Tyr missense AKAP2 1 79912 1.25138E-5 39956 0 NA
9-112694248-A-G p.Ile146Val missense AKAP2 2 79882 2.50369E-5 39941 0 2.00992E-5
9-112694255-G-T p.Cys148Phe missense AKAP2 2 79870 2.50407E-5 39935 1 NA
9-112694261-G-A p.Arg150Gln missense AKAP2 7 79816 8.77017E-5 39908 0 4.42318E-5
9-112694262-A-G p.Arg150Arg synonymous AKAP2 4 79796 5.01278E-5 39898 0 4.95156E-5
9-112694273-C-A p.Pro154Gln missense AKAP2 2 79726 2.50859E-5 39863 0 NA
9-112694278-C-T p.Pro156Ser missense AKAP2 2 79662 2.51061E-5 39831 0 8.26064E-6
9-112694290-G-C p.Gly160Arg missense AKAP2 1 79484 1.25811E-5 39742 0 NA
9-112694292-G-A p.Gly160Gly synonymous AKAP2 10 79468 1.25837E-4 39734 0 0.004375
9-112694298-C-T p.Ser162Ser synonymous AKAP2 4 79398 5.03791E-5 39699 0 4.03138E-6
9-112694302-G-A p.Ala164Thr missense AKAP2 1 79306 1.26094E-5 39653 0 4.03206E-6
9-112694303-C-T p.Ala164Val missense AKAP2 7 79252 8.83258E-5 39626 0 0.00103627
9-112694304-G-A p.Ala164Ala synonymous AKAP2 4 79232 5.04847E-5 39616 0 7.48142E-5
9-112778238-C-T p.Val167Val synonymous AKAP2 6 75458 7.95144E-5 37729 0 9.57365E-5
9-112778239-G-A p.Gly168Arg missense AKAP2 2 75508 2.64873E-5 37754 0 3.59313E-5
9-112778273-C-T p.Ser179Leu missense AKAP2 2 76248 2.62302E-5 38124 0 NA
9-112778274-A-G p.Ser179Ser synonymous AKAP2 2 76248 2.62302E-5 38124 0 3.18471E-5
9-112778275-G-A p.Ala180Thr missense AKAP2 10 76270 1.31113E-4 38135 0 9.55414E-5
9-112778276-C-T p.Ala180Val missense AKAP2 1 76278 1.31099E-5 38139 0 NA
9-112778277-C-T p.Ala180Ala synonymous AKAP2 1 76288 1.31082E-5 38144 0 1.67457E-5
9-112778283-C-T p.Asn182Asn synonymous AKAP2 75 76268 9.83374E-4 38134 1 0.00200714
9-112778284-G-A p.Ala183Thr missense AKAP2 1 76254 1.31141E-5 38127 0 1.19451E-5
9-112778286-C-T p.Ala183Ala synonymous AKAP2 3 76284 3.93267E-5 38142 0 NA
9-112778295-A-G p.Thr186Thr synonymous AKAP2 1 76156 1.31309E-5 38078 0 3.98105E-6
9-112778298-C-T p.Ser187Ser synonymous AKAP2 9 76130 1.18219E-4 38065 0 1.91168E-4
9-112778299-G-A p.Gly188Ser missense AKAP2 3 76096 3.94239E-5 38048 0 8.41397E-6
9-112778299-G-C p.Gly188Arg missense AKAP2 1 76096 1.31413E-5 38048 0 NA
9-112778305-G-C p.Asp190His missense AKAP2 1 76076 1.31447E-5 38038 0 8.44195E-6
9-112778307-C-G p.Asp190Glu missense AKAP2 6 76084 7.88602E-5 38042 0 9.30563E-5
9-112778319-G-C p.Lys194Asn missense+splice_region AKAP2 1 75890 1.3177E-5 37945 0 1.7101E-5
9-112778327-A-T c.582+8A>T splice_region AKAP2 1 75674 1.32146E-5 37837 0 NA
9-112810912-G-T c.-68G>T 5_prime_UTR_premature_start_codon_gain AKAP2 1 39506 2.53126E-5 19753 0 NA
9-112810958-C-T c.-22C>T 5_prime_UTR_premature_start_codon_gain AKAP2 1 42910 2.33046E-5 21455 0 2.6296E-5
9-112810988-G-A p.Trp3* stop_gained AKAP2 4 46788 8.5492E-5 23394 0 NA
9-112810997-C-A p.Pro6Pro synonymous AKAP2 1 47682 2.09723E-5 23841 0 0.00376749
9-112811005-C-T p.Ala9Val missense AKAP2 2 48304 4.14044E-5 24152 0 9.60246E-5
9-112811013-CTTCCCCCGGAGTCTCCTG-C p.Leu12_Gly18delinsArg disruptive_inframe_deletion AKAP2 36 49512 7.27096E-4 24756 0 9.27288E-4
9-112811014-T-C p.Leu12Pro missense AKAP2 1 49506 2.01996E-5 24753 0 4.21023E-5
9-112811015-TCCCCCGGAGTCTCCTGGA-T p.Ser22_Glu27del conservative_inframe_deletion AKAP2 2608 49442 0.0527487 24721 81 0.0654397
9-112811015-T-TCCCCCGGAGTCTCCTGGA p.Ser22_Glu27dup conservative_inframe_insertion AKAP2 2 49532 4.03779E-5 24766 0 2.84568E-5
9-112811017-C-T p.Pro13Leu missense AKAP2 1 49402 2.02421E-5 24701 0 3.20904E-5
9-112811018-C-T p.Pro13Pro synonymous AKAP2 3 49464 6.06502E-5 24732 0 NA
9-112811020-C-G p.Pro14Arg missense AKAP2 1 49362 2.02585E-5 24681 0 NA
9-112811023-A-G p.Glu15Gly missense AKAP2 1 49484 2.02086E-5 24742 0 3.21523E-5
9-112811030-T-C p.Pro17Pro synonymous AKAP2 6 50050 1.1988E-4 25025 0 NA
9-112811034-C-T p.Pro19Ser missense AKAP2 1 50822 1.96765E-5 25411 0 3.9071E-5
9-112811038-C-T p.Pro20Leu missense AKAP2 5410 50678 0.106752 25339 324 0.196888
9-112811039-G-C p.Pro20Pro synonymous AKAP2 1 50932 1.9634E-5 25466 0 1.2823E-4
9-112811062-G-A p.Arg28Gln missense AKAP2 1 50760 1.97006E-5 25380 0 NA
9-112811063-G-T p.Arg28Arg synonymous AKAP2 41 50788 8.07277E-4 25394 0 0.00118332
9-112811067-G-A p.Ala30Thr missense AKAP2 2 50484 3.96165E-5 25242 0 7.75062E-6
9-112811071-C-A p.Ala31Glu missense AKAP2 1 50152 1.99394E-5 25076 0 NA
9-112811077-C-T p.Ala33Val missense AKAP2 2 49922 4.00625E-5 24961 0 NA
9-112811083-GCTGGA-G p.Thr37fs frameshift AKAP2 2 49924 4.00609E-5 24962 0 3.20821E-5
9-112811096-A-G p.Ala39Ala synonymous AKAP2 5 49418 1.01178E-4 24709 0 0.00254453
9-112811099-A-G p.Glu40Glu synonymous AKAP2 2 49110 4.07249E-5 24555 0 3.23102E-5
9-112811112-G-C p.Ala45Pro missense AKAP2 100 47672 0.00209767 23836 0 0.00434335
9-112811126-G-C p.Gly49Gly synonymous AKAP2 1 46822 2.13575E-5 23411 0 NA
9-112811127-C-T p.Arg50Cys missense AKAP2 1 46410 2.15471E-5 23205 0 3.2975E-5
9-112852478-G-T c.-183G>T 5_prime_UTR_premature_start_codon_gain AKAP2 1 37906 2.6381E-5 18953 0 NA
9-112852549-C-T c.-112C>T 5_prime_UTR_premature_start_codon_gain AKAP2 1 50200 1.99203E-5 25100 0 NA
9-112852571-C-T c.-90C>T 5_prime_UTR_premature_start_codon_gain AKAP2 6900 49954 0.138127 24977 200 0.2025
9-112852571-C-G c.-90C>G 5_prime_UTR_premature_start_codon_gain AKAP2 2 51434 3.88848E-5 25717 0 1.27706E-4
9-112852603-C-T c.-58C>T 5_prime_UTR_premature_start_codon_gain AKAP2 3 52072 5.76125E-5 26036 0 9.56084E-5
9-112852656-A-G c.-5A>G 5_prime_UTR_premature_start_codon_gain AKAP2 2 52288 3.82497E-5 26144 0 0.00125
9-112852666-T-G p.Ile2Met missense AKAP2 1 52290 1.91241E-5 26145 0 7.42931E-6
9-112852671-C-A p.Thr4Asn missense AKAP2 1 52300 1.91205E-5 26150 0 NA
9-112852682-TTC-T p.Phe11fs frameshift AKAP2 1 52298 1.91212E-5 26149 0 7.42964E-6
9-112852684-C-G p.Phe8Leu missense AKAP2 4 52298 7.64848E-5 26149 0 NA
9-112852685-T-C p.Ser9Pro missense AKAP2 1 52298 1.91212E-5 26149 0 7.42964E-6
9-112852695-C-T p.Thr12Met missense+splice_region AKAP2 3 52292 5.73702E-5 26146 0 5.20129E-5
9-112852696-G-A p.Thr12Thr splice_region+synonymous AKAP2 1 52298 1.91212E-5 26149 0 6.25E-4
9-112887811-C-T c.-177C>T 5_prime_UTR_premature_start_codon_gain AKAP2 3 27158 1.10465E-4 13579 0 NA
9-112887820-C-T c.-168C>T 5_prime_UTR_premature_start_codon_gain AKAP2 1 27166 3.68107E-5 13583 0 1.27543E-4
9-112887879-A-G c.-112+3A>G splice_region AKAP2 1 27126 3.6865E-5 13563 0 NA
9-112898405-A-G c.-111-2A>G splice_acceptor AKAP2 2 80252 2.49215E-5 40126 0 NA
9-112898408-A-G p.Lys53Arg missense+splice_region AKAP2 2 80282 2.49122E-5 40141 0 NA
9-112898410-C-G p.Pro54Ala missense AKAP2 1 80278 1.24567E-5 40139 0 3.64047E-5
9-112898413-C-T p.Pro55Ser missense AKAP2 1 80284 1.24558E-5 40142 0 3.63009E-5
9-112898413-C-G p.Pro55Ala missense AKAP2 1 80284 1.24558E-5 40142 0 NA
9-112898418-G-A p.Gln56Gln synonymous AKAP2 1 80304 1.24527E-5 40152 0 6.37308E-5
9-112898426-A-G p.Glu59Gly missense AKAP2 1 80316 1.24508E-5 40158 0 NA
9-112898438-G-C p.Trp63Ser missense AKAP2 1 80318 1.24505E-5 40159 0 NA
9-112898441-T-G p.Leu64Arg missense AKAP2 1 80324 1.24496E-5 40162 0 3.18695E-5
9-112898445-A-C p.Lys65Asn missense AKAP2 2 80338 2.48948E-5 40169 0 4.21358E-6
9-112898448-C-T p.Ser66Ser synonymous AKAP2 1 80338 1.24474E-5 40169 0 3.79455E-5
9-112898449-G-A p.Glu67Lys missense AKAP2 5 80342 6.2234E-5 40171 0 3.18634E-5
9-112898455-GACA-G p.Asn70del conservative_inframe_deletion AKAP2 5 80348 6.22293E-5 40174 0 1.27462E-4
9-112898475-C-T p.Leu75Leu synonymous AKAP2 1 80362 1.24437E-5 40181 0 NA
9-112898485-G-T p.Ala79Ser missense AKAP2 1 80382 1.24406E-5 40191 0 NA
9-112898487-T-C p.Ala79Ala synonymous AKAP2 37 80386 4.60279E-4 40193 0 0.00125
9-112898488-G-A p.Ala80Thr missense AKAP2 1 80380 1.24409E-5 40190 0 NA
9-112898505-A-G p.Pro85Pro synonymous AKAP2 1 80372 1.24421E-5 40186 0 NA
9-112898507-A-G p.Asp86Gly missense AKAP2 2 80364 2.48868E-5 40182 0 8.25559E-6
9-112898528-A-G p.Glu4Gly missense AKAP2 13 80362 1.61768E-4 40181 0 1.00414E-4
9-112898553-T-A p.Ser12Arg missense AKAP2 1 80364 1.24434E-5 40182 0 NA
9-112898557-C-G p.Pro14Ala missense AKAP2 1 80368 1.24428E-5 40184 0 NA
9-112898567-C-T p.Thr17Ile missense AKAP2 1 80374 1.24418E-5 40187 0 4.12126E-5
9-112898568-C-T p.Thr17Thr synonymous AKAP2 1 80386 1.244E-5 40193 0 8.24307E-6
9-112898576-C-T p.Pro20Leu missense AKAP2 702 80374 0.00873417 40187 8 0.03625
9-112898584-A-G p.Met23Val missense AKAP2 3 80400 3.73134E-5 40200 0 8.24144E-6
9-112898587-G-A p.Asp24Asn missense AKAP2 1 80406 1.24369E-5 40203 0 4.01752E-6
9-112898599-G-A p.Ala28Thr missense AKAP2 39 80420 4.84954E-4 40210 0 6.37471E-4
9-112898604-C-T p.Phe29Phe synonymous AKAP2 3 80416 3.7306E-5 40208 0 4.01706E-6
9-112898612-C-T p.Pro32Leu missense AKAP2 2 80424 2.48682E-5 40212 0 4.01713E-6
9-112898615-C-T p.Pro33Leu missense AKAP2 1 80432 1.24329E-5 40216 0 1.20503E-5
9-112898616-G-A p.Pro33Pro synonymous AKAP2 1 80434 1.24326E-5 40217 0 6.3743E-5
9-112898616-GC-TT p.ProHis33ProTyr missense AKAP2 1 80434 1.24326E-5 40217 0 NA
9-112898635-G-C p.Asp40His missense AKAP2 21 80442 2.61058E-4 40221 0 0.00108266
9-112898639-A-T p.His41Leu missense AKAP2 1 80444 1.2431E-5 40222 0 NA
9-112898641-C-T p.His42Tyr missense AKAP2 3 80436 3.72967E-5 40218 0 3.18431E-5
9-112898649-C-T p.Ser44Ser synonymous AKAP2 2 80434 2.48651E-5 40217 0 4.01548E-6
9-112898657-A-G p.Asn47Ser missense AKAP2 1 80436 1.24322E-5 40218 0 3.18431E-5
9-112898660-A-G p.Asp48Gly missense AKAP2 2 80440 2.48633E-5 40220 0 3.18532E-5
9-112898669-G-A p.Arg51Lys missense AKAP2 1 80430 1.24332E-5 40215 0 8.23655E-6
9-112898674-A-T p.Ile53Phe missense AKAP2 1 80426 1.24338E-5 40213 0 6.37024E-5
9-112898675-T-A p.Ile53Asn missense AKAP2 2 80424 2.48682E-5 40212 0 4.01552E-6
9-112898678-G-A p.Arg54His missense AKAP2 5 80402 6.21875E-5 40201 0 2.81086E-5
9-112898687-A-G p.Asp57Gly missense AKAP2 2 80410 2.48725E-5 40205 0 3.18552E-5
9-112898691-G-A p.Glu58Glu synonymous AKAP2 2 80406 2.48738E-5 40203 0 3.18512E-5
9-112898708-G-A p.Cys64Tyr missense AKAP2 687 80368 0.00854818 40184 16 0.0193374
9-112898722-G-A p.Val69Met missense AKAP2 41 80362 5.10191E-4 40181 0 0.00146478
9-112898732-C-T p.Thr72Met missense AKAP2 2 80306 2.49047E-5 40153 0 8.2371E-6
9-112898733-G-A p.Thr72Thr synonymous AKAP2 3 80296 3.73618E-5 40148 0 6.36943E-5
9-112898738-A-G p.Asn74Ser missense AKAP2 4 80290 4.98194E-5 40145 0 9.06081E-5
9-112898757-G-A p.Glu80Glu synonymous AKAP2 2 80168 2.49476E-5 40084 0 NA
9-112898766-A-C p.Ala83Ala synonymous AKAP2 1 80116 1.24819E-5 40058 0 NA
9-112898769-G-T p.Val84Val synonymous AKAP2 1 80100 1.24844E-5 40050 0 2.47145E-5
9-112898776-G-A p.Val87Met missense AKAP2 2 80028 2.49913E-5 40014 0 NA
9-112898778-G-A p.Val87Val synonymous AKAP2 19 80028 2.37417E-4 40014 0 9.87198E-4
9-112898784-C-T p.Gly89Gly synonymous AKAP2 2 79928 2.50225E-5 39964 0 NA
9-112898791-C-A p.Pro92Thr missense AKAP2 4 79946 5.00338E-5 39973 0 3.2963E-5
9-112898791-C-T p.Pro92Ser missense AKAP2 1 79946 1.25084E-5 39973 0 1.64815E-5
9-112898794-C-G p.Pro93Ala missense AKAP2 4 79938 5.00388E-5 39969 0 2.01186E-5
9-112898802-C-T p.His95His synonymous AKAP2 625 79816 0.00783051 39908 22 0.016431
9-112898806-G-A p.Ala97Thr missense AKAP2 1 79760 1.25376E-5 39880 0 NA
9-112898807-C-T p.Ala97Val missense AKAP2 5 79720 6.27195E-5 39860 0 8.46344E-5
9-112898808-G-A p.Ala97Ala synonymous AKAP2 148 79720 0.0018565 39860 3 0.00385473
9-112898813-A-G p.Gln99Arg missense AKAP2 1 79710 1.25455E-5 39855 0 3.1841E-5
9-112898814-G-A p.Gln99Gln synonymous AKAP2 2 79650 2.51099E-5 39825 0 NA
9-112898819-A-C p.Glu101Ala missense AKAP2 3 79610 3.76837E-5 39805 0 2.47317E-5
9-112898842-C-T p.Arg109Trp missense AKAP2 45 79368 5.66979E-4 39684 0 0.00113671
9-112898843-G-A p.Arg109Gln missense AKAP2 681 79326 0.00858483 39663 16 0.0194367
9-112898850-A-G p.Ala111Ala synonymous AKAP2 2 79296 2.5222E-5 39648 0 4.02943E-6
9-112898859-C-T p.His114His synonymous AKAP2 3 79356 3.78043E-5 39678 0 1.59297E-4
9-112898862-C-T p.Ile115Ile synonymous AKAP2 1 79332 1.26053E-5 39666 0 3.22251E-5
9-112898863-G-A p.Glu116Lys missense AKAP2 1 79300 1.26103E-5 39650 0 2.01426E-5
9-112898865-G-A p.Glu116Glu synonymous AKAP2 4 79334 5.04197E-5 39667 0 6.37105E-5
9-112898874-T-C p.Asn119Asn synonymous AKAP2 1 79398 1.25948E-5 39699 0 NA
9-112898881-C-T p.Pro122Ser missense AKAP2 1 79434 1.25891E-5 39717 0 8.24919E-6
9-112898886-C-T p.Asp123Asp synonymous AKAP2 1 79436 1.25888E-5 39718 0 NA
9-112898890-A-C p.Met125Leu missense AKAP2 2 79480 2.51636E-5 39740 0 4.02395E-6
9-112898890-A-G p.Met125Val missense AKAP2 1 79480 1.25818E-5 39740 0 NA
9-112898891-T-C p.Met125Thr missense AKAP2 1 79494 1.25796E-5 39747 0 NA
9-112898917-C-T p.His134Tyr missense AKAP2 1 79824 1.25276E-5 39912 0 NA
9-112898933-C-G p.Pro139Arg missense AKAP2 1 80012 1.24981E-5 40006 0 NA
9-112898942-C-T p.Ala142Val missense AKAP2 2 80054 2.49831E-5 40027 0 4.82963E-5
9-112898943-G-A p.Ala142Ala synonymous AKAP2 1 80052 1.24919E-5 40026 0 3.62188E-5
9-112898953-A-G p.Ser146Gly missense AKAP2 1 80152 1.24763E-5 40076 0 3.18634E-5
9-112898961-G-T p.Gln148His missense AKAP2 1 80204 1.24682E-5 40102 0 NA
9-112898962-G-T p.Val149Leu missense AKAP2 1 80200 1.24688E-5 40100 0 1.64981E-5
9-112898976-C-T p.Pro153Pro synonymous AKAP2 1 80230 1.24642E-5 40115 0 NA
9-112898982-C-G p.Ser155Ser synonymous AKAP2 26 80260 3.23947E-4 40130 0 6.25E-4
9-112898990-G-T p.Ser158Ile missense AKAP2 1 80266 1.24586E-5 40133 0 4.01716E-6
9-112898991-C-T p.Ser158Ser synonymous AKAP2 1 80266 1.24586E-5 40133 0 NA
9-112898995-C-T p.Arg160Trp missense AKAP2 2 80274 2.49147E-5 40137 0 8.24375E-5
9-112898996-G-A p.Arg160Gln missense AKAP2 171 80268 0.00213036 40134 0 0.00151043
9-112899008-G-A p.Arg164Gln missense AKAP2 3 80270 3.73739E-5 40135 0 1.27429E-4
9-112899034-C-T p.Leu173Leu synonymous AKAP2 697 80206 0.00869012 40103 8 0.03625
9-112899034-C-A p.Leu173Met missense AKAP2 34 80222 4.23824E-4 40111 0 9.24214E-4
9-112899038-A-G p.Lys174Arg missense AKAP2 1 80212 1.2467E-5 40106 0 NA
9-112899057-G-T p.Glu180Asp missense AKAP2 4 80140 4.99127E-5 40070 0 NA
9-112899058-C-T p.Leu181Leu synonymous AKAP2 1 80128 1.248E-5 40064 0 4.01858E-6
9-112899062-G-A p.Arg182His missense AKAP2 3 80116 3.74457E-5 40058 0 3.2962E-5
9-112899091-A-G p.Lys192Glu missense AKAP2 2 80032 2.499E-5 40016 0 NA
9-112899101-A-C p.Glu195Ala missense AKAP2 1 80060 1.24906E-5 40030 0 NA
9-112899108-C-T p.Asp197Asp synonymous AKAP2 1 80070 1.24891E-5 40035 0 3.18573E-5
9-112899108-CGA-GGG p.AspGlu197GluGly missense AKAP2 1 80070 1.24891E-5 40035 0 NA
9-112899109-G-A p.Glu198Lys missense AKAP2 1 80054 1.24916E-5 40027 0 3.18431E-5
9-112899125-A-C p.Gln203Pro missense AKAP2 1 80114 1.24822E-5 40057 0 NA
9-112899136-A-G p.Arg207Gly missense AKAP2 1 80152 1.24763E-5 40076 0 NA
9-112899143-TGAGGCCTTCAGAGGAGATGCTGGAGCTGGAAAAG-T p.Pro211fs frameshift AKAP2 1 80154 1.2476E-5 40077 0 NA
9-112899178-G-C p.Glu221Gln missense AKAP2 1 80180 1.24719E-5 40090 0 NA
9-112899189-G-A p.Glu224Glu synonymous AKAP2 1 80146 1.24772E-5 40073 0 8.24933E-6
9-112899196-C-T p.Arg227Cys missense AKAP2 1 80140 1.24782E-5 40070 0 1.60821E-5
9-112899200-G-T p.Ser228Ile missense AKAP2 1 80118 1.24816E-5 40059 0 NA
9-112899207-C-T p.Ala230Ala synonymous AKAP2 1 80074 1.24884E-5 40037 0 3.30066E-5
9-112899208-G-A p.Val231Ile missense AKAP2 1 80050 1.24922E-5 40025 0 5.18135E-4
9-112899220-C-A p.Pro235Thr missense AKAP2 2 80038 2.49881E-5 40019 0 NA
9-112899222-T-A p.Pro235Pro synonymous AKAP2 32 80032 3.9984E-4 40016 0 3.50363E-4
9-112899230-C-T p.Ala238Val missense AKAP2 7 79994 8.75066E-5 39997 0 1.08619E-4
9-112899249-C-A p.Pro244Pro synonymous AKAP2 1 79896 1.25163E-5 39948 0 NA
9-112899251-C-T p.Pro245Leu missense AKAP2 4 79888 5.00701E-5 39944 0 6.25E-4
9-112899265-A-G p.Ile250Val missense AKAP2 2 79936 2.502E-5 39968 0 6.37146E-5
9-112899267-C-T p.Ile250Ile synonymous AKAP2 11 79926 1.37627E-4 39963 0 1.91192E-4
9-112899268-G-A p.Glu251Lys missense AKAP2 3 79926 3.75347E-5 39963 0 1.65393E-5
9-112899282-C-T p.Asp255Asp synonymous AKAP2 113 79864 0.00141491 39932 0 0.00376156
9-112899283-G-A p.Glu256Lys missense AKAP2 3 79848 3.75714E-5 39924 0 0.0025
9-112899285-G-C p.Glu256Asp missense AKAP2 5 79852 6.26158E-5 39926 0 3.31461E-5
9-112899292-C-G p.Leu259Val missense AKAP2 1 79732 1.2542E-5 39866 0 3.18654E-5
9-112899299-C-T p.Ser261Leu missense AKAP2 2 79492 2.51598E-5 39746 0 1.6603E-5
9-112899300-G-A p.Ser261Ser synonymous AKAP2 1 79442 1.25878E-5 39721 0 8.04842E-6
9-112899301-C-T p.His262Tyr missense AKAP2 6 79410 7.55572E-5 39705 0 1.24583E-4
9-112899311-A-G p.Tyr265Cys missense AKAP2 2 79244 2.52385E-5 39622 0 1.66528E-5
9-112899313-A-C p.Lys266Gln missense AKAP2 1 79156 1.26333E-5 39578 0 2.41665E-5
9-112899318-G-C p.Glu267Asp missense AKAP2 1 78972 1.26627E-5 39486 0 NA
9-112899319-C-T p.Arg268Cys missense AKAP2 2 78880 2.5355E-5 39440 0 5.00693E-5
9-112899320-G-A p.Arg268His missense AKAP2 2 78842 2.53672E-5 39421 0 0.00103627
9-112899327-G-A p.Glu270Glu synonymous AKAP2 1 78730 1.27016E-5 39365 0 3.34292E-5
9-112899333-G-C p.Arg272Ser missense AKAP2 1 78480 1.27421E-5 39240 0 NA
9-112899334-G-A p.Ala273Thr missense AKAP2 5 78498 6.36959E-5 39249 0 2.82917E-5
9-112899336-A-G p.Ala273Ala synonymous AKAP2 1 78496 1.27395E-5 39248 0 2.52012E-5
9-112899340-C-G p.Gln275Glu missense AKAP2 1 78414 1.27528E-5 39207 0 NA
9-112899355-C-T p.Leu280Leu synonymous AKAP2 2 78152 2.55912E-5 39076 0 NA
9-112899356-TGCAGAAGCAGTTACA-T p.Lys282_Gln286del conservative_inframe_deletion AKAP2 1 78152 1.27956E-5 39076 0 1.2226E-5
9-112899357-G-A p.Leu280Leu synonymous AKAP2 22 78132 2.81575E-4 39066 1 5.09716E-4
9-112899360-G-A p.Gln281Gln synonymous AKAP2 1 78106 1.28031E-5 39053 0 NA
9-112899361-A-C p.Lys282Gln missense AKAP2 65754 77856 0.844559 38928 27905 0.882811
9-112899365-A-C p.Gln283Pro missense AKAP2 62 78126 7.9359E-4 39063 0 0.00125
9-112899369-ACAG-A p.Gln290del disruptive_inframe_deletion AKAP2 12 77346 1.55147E-4 38673 0 0.0122637
9-112899369-ACAGCAGCAG-A p.Gln288_Gln290del disruptive_inframe_deletion AKAP2 11 78076 1.40888E-4 39038 0 1.29481E-4
9-112899369-A-ACAG p.Gln290dup disruptive_inframe_insertion AKAP2 5 78076 6.40402E-5 39038 0 3.63822E-5
9-112899386-A-C p.Gln290Pro missense AKAP2 2 78018 2.56351E-5 39009 0 NA
9-112899387-G-T p.Gln290His missense AKAP2 2 78020 2.56345E-5 39010 0 NA
9-112899391-C-G p.Pro292Ala missense AKAP2 2 78020 2.56345E-5 39010 0 3.18492E-5
9-112899391-C-T p.Pro292Ser missense AKAP2 2 78020 2.56345E-5 39010 0 NA
9-112899393-A-G p.Pro292Pro synonymous AKAP2 1 78036 1.28146E-5 39018 0 NA
9-112899394-T-A p.Ser293Thr missense AKAP2 1 78024 1.28166E-5 39012 0 NA
9-112899395-C-T p.Ser293Leu missense AKAP2 7 78038 8.96999E-5 39019 0 6.37064E-5
9-112899396-G-A p.Ser293Ser synonymous AKAP2 2 78012 2.56371E-5 39006 0 3.18451E-5
9-112899402-C-T p.Leu295Leu synonymous AKAP2 1 78046 1.2813E-5 39023 0 NA
9-112899408-A-G p.Thr297Thr synonymous AKAP2 1 78078 1.28077E-5 39039 0 4.0858E-6
9-112899425-A-G p.His303Arg missense AKAP2 33 78192 4.22038E-4 39096 0 8.40254E-4
9-112899426-T-G p.His303Gln missense AKAP2 4 78196 5.11535E-5 39098 0 0.001875
9-112899426-T-C p.His303His synonymous AKAP2 3 78196 3.83651E-5 39098 0 6.37024E-5
9-112899426-T-A p.His303Gln missense AKAP2 1 78196 1.27884E-5 39098 0 1.2234E-5
9-112899430-C-T p.Arg305Cys missense AKAP2 279 78202 0.00356768 39101 2 0.00869538
9-112899431-G-T p.Arg305Leu missense AKAP2 3 78188 3.83691E-5 39094 0 NA
9-112899437-G-C p.Ser307Thr missense AKAP2 1 78280 1.27747E-5 39140 0 NA
9-112899438-C-A p.Ser307Arg missense AKAP2 2 78282 2.55487E-5 39141 0 0.00103627
9-112899440-T-A p.Met308Lys missense AKAP2 1 78308 1.27701E-5 39154 0 NA
9-112899441-G-A p.Met308Ile missense AKAP2 1 78316 1.27688E-5 39158 0 8.65426E-6
9-112899441-G-T p.Met308Ile missense AKAP2 3 78316 3.83063E-5 39158 0 5.18135E-4
9-112899444-T-C p.Ile309Ile synonymous AKAP2 1 78344 1.27642E-5 39172 0 NA
9-112899454-A-G p.Lys313Glu missense AKAP2 2 78414 2.55056E-5 39207 0 NA
9-112899456-G-C p.Lys313Asn missense AKAP2 1 78426 1.27509E-5 39213 0 NA
9-112899488-C-T p.Ser324Phe missense AKAP2 1 79114 1.264E-5 39557 0 3.18451E-5
9-112899489-T-C p.Ser324Ser synonymous AKAP2 1 79140 1.26358E-5 39570 0 3.18451E-5
9-112899496-C-T p.Arg327Cys missense AKAP2 5 79322 6.30342E-5 39661 0 8.46511E-5
9-112899497-G-A p.Arg327His missense AKAP2 2 79376 2.51965E-5 39688 0 8.46009E-6
9-112899501-A-G p.Lys328Lys synonymous AKAP2 2 79612 2.51218E-5 39806 0 8.06068E-5
9-112899510-G-C p.Gln331His missense AKAP2 2 79726 2.50859E-5 39863 0 NA
9-112899514-A-T p.Met333Leu missense AKAP2 4 79826 5.0109E-5 39913 0 3.18451E-5
9-112899532-G-A p.Ala339Thr missense AKAP2 2 80052 2.49838E-5 40026 0 1.20614E-5
9-112899533-C-T p.Ala339Val missense AKAP2 7 80032 8.7465E-5 40016 0 3.67586E-4
9-112899534-G-A p.Ala339Ala synonymous AKAP2 32 80046 3.9977E-4 40023 1 0.00168813
9-112899542-A-T p.Lys342Met missense AKAP2 1 80130 1.24797E-5 40065 0 NA
9-112899554-C-T p.Thr346Ile missense AKAP2 1 80160 1.2475E-5 40080 0 3.18532E-5
9-112899561-G-A p.Arg348Arg synonymous AKAP2 1 80194 1.24698E-5 40097 0 4.01803E-6
9-112899571-A-G p.Ile352Val missense AKAP2 2 80220 2.49314E-5 40110 0 NA
9-112899596-G-A p.Gly360Glu missense AKAP2 1 80188 1.24707E-5 40094 0 NA
9-112899604-A-G p.Asn363Asp missense AKAP2 1 80124 1.24807E-5 40062 0 NA
9-112899605-A-C p.Asn363Thr missense AKAP2 1 80102 1.24841E-5 40051 0 3.18979E-5
9-112899612-C-G p.Asp365Glu missense AKAP2 2 80062 2.49806E-5 40031 0 3.18735E-5
9-112899612-C-T p.Asp365Asp synonymous AKAP2 2 80062 2.49806E-5 40031 0 NA
9-112899616-C-G p.Pro367Ala missense AKAP2 3 80162 3.74242E-5 40081 0 2.81301E-5
9-112899620-T-G p.Leu368Arg missense AKAP2 3 80148 3.74308E-5 40074 1 NA
9-112899624-T-C p.Thr369Thr synonymous AKAP2 1 80142 1.24779E-5 40071 0 1.20567E-5
9-112899626-A-T p.Asn370Ile missense AKAP2 111 80132 0.00138521 40066 0 0.00226288
9-112899629-C-T p.Pro371Leu missense AKAP2 29 80090 3.62093E-4 40045 0 0.00207254
9-112899630-G-A p.Pro371Pro synonymous AKAP2 1 80072 1.24888E-5 40036 0 1.20591E-5
9-112899645-C-CG p.Pro379fs frameshift AKAP2 1 79914 1.25135E-5 39957 0 NA
9-112899645-C-T p.Val376Val synonymous AKAP2 1 79914 1.25135E-5 39957 0 3.18715E-5
9-112899648-G-C p.Gly377Gly synonymous AKAP2 2 79890 2.50344E-5 39945 0 3.18654E-5
9-112899648-G-T p.Gly377Gly synonymous AKAP2 1 79890 1.25172E-5 39945 0 4.02211E-6
9-112899651-A-T p.Gly378Gly synonymous AKAP2 2 79830 2.50532E-5 39915 0 NA
9-112899658-G-C p.Glu381Gln missense AKAP2 53 79828 6.63927E-4 39914 0 0.0019118
9-112899662-A-T p.Asp382Val missense AKAP2 2 79818 2.5057E-5 39909 0 8.25219E-6
9-112899672-C-T p.Ala385Ala synonymous AKAP2 23 79784 2.88278E-4 39892 0 2.54858E-4
9-112899680-C-T p.Ala388Val missense AKAP2 2 79770 2.50721E-5 39885 0 NA
9-112899697-C-T p.Pro394Ser missense AKAP2 1 79780 1.25345E-5 39890 0 NA
9-112899700-G-A p.Gly395Ser missense AKAP2 3 79750 3.76176E-5 39875 0 5.63571E-5
9-112899715-C-A p.Pro400Thr missense AKAP2 321 79792 0.00402296 39896 1 0.00311617
9-112899715-C-T p.Pro400Ser missense AKAP2 1 79802 1.2531E-5 39901 0 3.18695E-5
9-112899716-C-T p.Pro400Leu missense AKAP2 1 79808 1.25301E-5 39904 0 NA
9-112899716-C-A p.Pro400Gln missense AKAP2 2 79808 2.50601E-5 39904 0 8.26214E-6
9-112899719-C-T p.Ser401Leu missense AKAP2 2 79804 2.50614E-5 39902 0 9.55779E-5
9-112899720-G-A p.Ser401Ser synonymous AKAP2 5 79770 6.26802E-5 39885 0 1.59327E-4
9-112899724-GCAGGAAGCCAGGGCAACA-G p.Gly404_Thr409del disruptive_inframe_deletion AKAP2 1 79756 1.25382E-5 39878 0 NA
9-112899731-G-T p.Ser405Ile missense AKAP2 1 79768 1.25364E-5 39884 0 NA
9-112899759-G-A p.Lys414Lys synonymous AKAP2 1 79794 1.25323E-5 39897 0 NA
9-112899762-A-G p.Glu415Glu synonymous AKAP2 1 79790 1.25329E-5 39895 0 NA
9-112899765-G-A p.Gly416Gly synonymous AKAP2 1 79768 1.25364E-5 39884 0 NA
9-112899767-C-T p.Pro417Leu missense AKAP2 1 79756 1.25382E-5 39878 0 NA
9-112899774-C-T p.Ser419Ser synonymous AKAP2 1 79796 1.2532E-5 39898 0 9.55171E-5
9-112899782-C-A p.Ser422Tyr missense AKAP2 1 79818 1.25285E-5 39909 0 NA
9-112899787-C-T p.Arg424Cys missense AKAP2 3 79820 3.75846E-5 39910 0 6.60458E-5
9-112899788-G-A p.Arg424His missense AKAP2 2 79814 2.50583E-5 39907 0 4.02434E-6
9-112899789-T-G p.Arg424Arg synonymous AKAP2 7 79802 8.77171E-5 39901 0 3.21926E-5
9-112899791-G-T p.Gly425Val missense AKAP2 1 79792 1.25326E-5 39896 0 NA
9-112899792-G-T p.Gly425Gly synonymous AKAP2 2 79780 2.50689E-5 39890 0 NA
9-112899802-A-G p.Lys429Glu missense AKAP2 2 79830 2.50532E-5 39915 0 NA
9-112899807-G-A p.Leu430Leu synonymous AKAP2 1 79850 1.25235E-5 39925 0 NA
9-112899809-G-T p.Trp431Leu missense AKAP2 2 79846 2.50482E-5 39923 0 NA
9-112899816-G-A p.Glu433Glu synonymous AKAP2 1 79910 1.25141E-5 39955 0 6.36983E-5
9-112899819-T-G p.Asp434Glu missense AKAP2 89 79944 0.00111328 39972 0 0.00162503
9-112899830-C-T p.Thr438Met missense AKAP2 4 79940 5.00375E-5 39970 0 9.55597E-5
9-112899833-G-A p.Ser439Asn missense AKAP2 1 79944 1.25088E-5 39972 0 8.24729E-6
9-112899834-C-T p.Ser439Ser synonymous AKAP2 1 79938 1.25097E-5 39969 0 2.47431E-5
9-112899835-G-A p.Ala440Thr missense AKAP2 19 79944 2.37666E-4 39972 0 0.001875
9-112899838-C-T p.Arg441Trp missense AKAP2 2 79988 2.50038E-5 39994 0 8.04085E-6
9-112899839-G-C p.Arg441Pro missense AKAP2 6 80002 7.49981E-5 40001 0 4.01965E-5
9-112899839-G-A p.Arg441Gln missense AKAP2 1 80002 1.24997E-5 40001 0 3.18593E-5
9-112899851-C-T p.Thr445Ile missense AKAP2 1 80098 1.24847E-5 40049 0 8.03762E-6
9-112899864-T-C p.Asp449Asp synonymous AKAP2 2 80136 2.49576E-5 40068 0 NA
9-112899865-G-T p.Asp450Tyr missense AKAP2 2 80134 2.49582E-5 40067 0 4.01926E-6
9-112899866-A-G p.Asp450Gly missense AKAP2 1 80130 1.24797E-5 40065 0 NA
9-112899871-C-A p.His452Asn missense AKAP2 2 80148 2.49538E-5 40074 0 8.24525E-6
9-112899873-T-C p.His452His synonymous AKAP2 1 80158 1.24754E-5 40079 0 3.18735E-5
9-112899881-T-C p.Leu455Ser missense AKAP2 1 80154 1.2476E-5 40077 0 7.63653E-5
9-112899887-A-G p.Gln457Arg missense AKAP2 1 80152 1.24763E-5 40076 0 1.20603E-5
9-112899895-A-C p.Arg460Arg synonymous AKAP2 1 80144 1.24775E-5 40072 0 2.47415E-5
9-112899902-T-A p.Val462Asp missense AKAP2 2 80152 2.49526E-5 40076 0 NA
9-112899905-A-G p.Asn463Ser missense AKAP2 1 80152 1.24763E-5 40076 0 8.2496E-6
9-112899913-TTGA-T p.Leu466_Thr467delinsSer disruptive_inframe_deletion AKAP2 4 80162 4.9899E-5 40081 0 1.64995E-5
9-112899921-A-C p.Gln468His missense AKAP2 7 80128 8.73602E-5 40064 0 6.03437E-5
9-112899942-G-A p.Leu475Leu synonymous AKAP2 1 80138 1.24785E-5 40069 0 4.02359E-6
9-112899945-C-T p.Asp476Asp synonymous AKAP2 1 80132 1.24794E-5 40066 0 2.81781E-5
9-112899953-C-T p.Ser479Leu missense AKAP2 2 80146 2.49545E-5 40073 0 8.25246E-6
9-112899954-G-A p.Ser479Ser synonymous AKAP2 30 80150 3.74298E-4 40075 0 0.00165827
9-112899979-C-T p.Leu488Leu synonymous AKAP2 1 80184 1.24713E-5 40092 0 9.55779E-5
9-112899996-T-C p.Asn493Asn synonymous AKAP2 1 80284 1.24558E-5 40142 0 6.37024E-5
9-112900013-ACAT-A p.Ile500del disruptive_inframe_deletion AKAP2 1 80286 1.24555E-5 40143 0 NA
9-112900026-C-T p.Ser503Ser synonymous AKAP2 3 80284 3.73673E-5 40142 0 3.37414E-4
9-112900027-G-A p.Gly504Arg missense AKAP2 1 80290 1.24549E-5 40145 0 0.00103627
9-112900032-A-C p.Ala505Ala synonymous AKAP2 1 80284 1.24558E-5 40142 0 6.37186E-5
9-112900048-A-G p.Asn511Asp missense AKAP2 1 80212 1.2467E-5 40106 0 NA
9-112900049-A-G p.Asn511Ser missense AKAP2 8 80202 9.97481E-5 40101 0 2.54826E-4
9-112900065-T-G p.Asn516Lys missense AKAP2 3 80106 3.74504E-5 40053 0 6.60589E-5
9-112900066-T-G p.Ser517Ala missense AKAP2 9 80090 1.12374E-4 40045 0 2.23044E-4
9-112900078-T-G p.Phe521Val missense AKAP2 1 79968 1.2505E-5 39984 0 NA
9-112900089-C-T p.Pro524Pro synonymous AKAP2 1 79734 1.25417E-5 39867 0 6.37146E-5
9-112900090-C-G p.Gln525Glu missense AKAP2 1 79744 1.25401E-5 39872 0 1.12614E-4
9-112900103-C-T p.Thr529Ile missense AKAP2 2 79560 2.51383E-5 39780 0 NA
9-112900109-A-G p.Asn531Ser missense AKAP2 2 79402 2.51883E-5 39701 0 8.27691E-6
9-112900110-C-T p.Asn531Asn synonymous AKAP2 35 79418 4.40706E-4 39709 0 0.00117789
9-112900110-C-A p.Asn531Lys missense AKAP2 1 79418 1.25916E-5 39709 0 4.02334E-6
9-112900123-C-A p.Arg536Arg synonymous AKAP2 1 79140 1.26358E-5 39570 0 NA
9-112900133-G-T p.Gly539Val missense AKAP2 1 79042 1.26515E-5 39521 0 4.02298E-6
9-112900134-C-T p.Gly539Gly synonymous AKAP2 2 78996 2.53177E-5 39498 0 3.1839E-5
9-112900134-C-A p.Gly539Gly synonymous AKAP2 1 78996 1.26589E-5 39498 0 NA
9-112900135-G-A p.Val540Ile missense AKAP2 10 79024 1.26544E-4 39512 0 1.1266E-4
9-112900141-A-C p.Lys542Gln missense AKAP2 1 79082 1.26451E-5 39541 0 1.32494E-4
9-112900142-A-G p.Lys542Arg missense AKAP2 14 79086 1.77022E-4 39543 0 8.85006E-5
9-112900151-G-T p.Ser545Ile missense AKAP2 1 79134 1.26368E-5 39567 0 8.28048E-6
9-112900157-A-G p.His547Arg missense AKAP2 2 79206 2.52506E-5 39603 0 NA
9-112900157-A-T p.His547Leu missense AKAP2 1 79206 1.26253E-5 39603 0 NA
9-112900158-T-C p.His547His synonymous AKAP2 2 79202 2.52519E-5 39601 0 NA
9-112900171-C-A p.Pro552Thr missense AKAP2 2 79318 2.5215E-5 39659 0 1.00531E-4
9-112900176-C-G p.Ser553Ser synonymous AKAP2 1 79394 1.25954E-5 39697 0 4.02042E-6
9-112900181-C-T p.Thr555Met missense AKAP2 2 79454 2.51718E-5 39727 0 0.00375
9-112900182-G-A p.Thr555Thr synonymous AKAP2 2 79442 2.51756E-5 39721 0 3.18573E-5
9-112900186-G-A p.Gly557Arg missense AKAP2 7 79524 8.80237E-5 39762 0 5.18135E-4
9-112900199-T-C p.Leu561Ser missense AKAP2 36593 78998 0.463214 39499 8591 0.538125
9-112900199-TG-CA p.Leu561Ser missense AKAP2 1 79724 1.25433E-5 39862 0 NA
9-112900200-G-A p.Leu561Leu synonymous AKAP2 3 79750 3.76176E-5 39875 0 3.18532E-5
9-112900218-G-T p.Glu567Asp missense AKAP2 4 79828 5.01077E-5 39914 0 NA
9-112900220-A-G p.Tyr568Cys missense AKAP2 1 79852 1.25232E-5 39926 0 8.28569E-6
9-112900224-G-C p.Gln569His missense AKAP2 2 79846 2.50482E-5 39923 0 8.29036E-6
9-112900225-G-A p.Ala570Thr missense AKAP2 1 79812 1.25294E-5 39906 0 5.18135E-4
9-112900229-G-C p.Gly571Ala missense AKAP2 1 79792 1.25326E-5 39896 0 1.66085E-5
9-112900232-T-A p.Leu572His missense AKAP2 1 79810 1.25298E-5 39905 0 NA
9-112900261-A-G p.Ile582Val missense AKAP2 2 79840 2.50501E-5 39920 0 4.02911E-6
9-112900266-C-T p.Ala583Ala synonymous AKAP2 3 79808 3.75902E-5 39904 0 6.36983E-5
9-112900267-G-A p.Glu584Lys missense AKAP2 5 79828 6.26347E-5 39914 0 3.18471E-5
9-112900271-A-G p.Gln585Arg missense AKAP2 1 79830 1.25266E-5 39915 0 1.66923E-5
9-112900283-C-T p.Ala589Val missense AKAP2 4 79822 5.01115E-5 39911 0 8.36037E-6
9-112900284-T-C p.Ala589Ala synonymous AKAP2 1 79832 1.25263E-5 39916 0 3.18451E-5
9-112900296-C-T p.Thr593Thr synonymous AKAP2 1 79818 1.25285E-5 39909 0 3.18451E-5
9-112900297-A-G p.Ser594Gly missense AKAP2 1 79806 1.25304E-5 39903 0 NA
9-112900301-G-A p.Arg595Lys missense AKAP2 2 79822 2.50557E-5 39911 0 NA
9-112900307-G-C p.Gly597Ala missense AKAP2 2 79774 2.50708E-5 39887 0 NA
9-112900314-G-A p.Glu599Glu synonymous AKAP2 3 79774 3.76062E-5 39887 0 4.03734E-6
9-112900331-C-T p.Ala605Val missense AKAP2 22 79788 2.75731E-4 39894 0 5.16729E-4
9-112900332-G-A p.Ala605Ala synonymous AKAP2 11 79810 1.37827E-4 39905 0 1.52416E-4
9-112900341-G-GGAAGCT p.Glu611_Ala612dup disruptive_inframe_insertion AKAP2 11040 79554 0.138774 39777 794 0.142602
9-112900341-G-A p.Glu608Glu synonymous AKAP2 627 79816 0.00785557 39908 4 0.00848287
9-112900347-T-C p.Ala610Ala synonymous AKAP2 1 79840 1.2525E-5 39920 0 NA
9-112900352-C-T p.Ala612Val missense AKAP2 2 79838 2.50507E-5 39919 0 8.37619E-6
9-112900355-C-T p.Ala613Val missense AKAP2 10 79802 1.2531E-4 39901 0 7.3303E-5
9-112900356-G-A p.Ala613Ala synonymous AKAP2 10 79810 1.25298E-4 39905 0 0.0284974
9-112900362-C-T p.Phe615Phe synonymous AKAP2 1 79844 1.25244E-5 39922 0 4.11286E-6
9-112900363-G-A p.Gly616Ser missense AKAP2 3 79822 3.75836E-5 39911 0 6.25E-4
9-112900364-G-T p.Gly616Val missense AKAP2 1 79830 1.25266E-5 39915 0 NA
9-112900372-A-G p.Lys619Glu missense AKAP2 574 79894 0.00718452 39947 13 0.015
9-112900382-G-A p.Ser622Asn missense AKAP2 4 79922 5.00488E-5 39961 0 4.02768E-6
9-112900393-C-T p.Pro626Ser missense AKAP2 34 79918 4.25436E-4 39959 0 0.00111429
9-112900402-G-T p.Val629Leu missense AKAP2 10 79968 1.2505E-4 39984 0 9.55536E-5
9-112900403-T-C p.Val629Ala missense AKAP2 1 79974 1.25041E-5 39987 0 NA
9-112900434-A-G p.Val639Val synonymous AKAP2 2 80042 2.49869E-5 40021 0 4.03119E-6
9-112900441-A-G p.Lys642Glu missense AKAP2 1 80058 1.24909E-5 40029 0 8.33875E-6
9-112900459-G-A p.Asp648Asn missense AKAP2 1 80026 1.24959E-5 40013 0 4.0373E-6
9-112900460-A-T p.Asp648Val missense AKAP2 1 80016 1.24975E-5 40008 0 NA
9-112900466-C-T p.Ala650Val missense AKAP2 2693 79872 0.0337164 39936 60 0.0314545
9-112900467-G-A p.Ala650Ala synonymous AKAP2 959 79904 0.0120019 39952 29 0.0258934
9-112900477-A-C p.Arg654Arg synonymous AKAP2 16 79912 2.0022E-4 39956 0 8.12797E-5
9-112900482-G-GC p.Gln658fs frameshift AKAP2 3 79772 3.76072E-5 39886 0 0.0122071
9-112900482-G-C p.Gly655Gly synonymous AKAP2 57 79788 7.14393E-4 39894 0 0.0295337
9-112900489-C-G p.Gln658Glu missense AKAP2 1 79956 1.25069E-5 39978 0 NA
9-112900494-A-G p.Pro659Pro synonymous AKAP2 1 79932 1.25106E-5 39966 0 NA
9-112900505-T-C p.Val663Ala missense AKAP2 1 79952 1.25075E-5 39976 0 1.21071E-5
9-112900518-C-A p.Gly667Gly synonymous AKAP2 1 79908 1.25144E-5 39954 0 4.02859E-6
9-112900520-C-T p.Pro668Leu missense AKAP2 4 79926 5.00463E-5 39963 0 4.18242E-5
9-112900521-G-A p.Pro668Pro synonymous AKAP2 1 79944 1.25088E-5 39972 0 6.37064E-5
9-112900547-A-G p.Glu677Gly missense AKAP2 9 80008 1.12489E-4 40004 0 2.4115E-5
9-112900550-G-A p.Gly678Glu missense AKAP2 1 80034 1.24947E-5 40017 0 NA
9-112900557-T-C p.Tyr680Tyr synonymous AKAP2 1 80054 1.24916E-5 40027 0 4.0181E-6
9-112900557-T-G p.Tyr680* stop_gained AKAP2 2 80054 2.49831E-5 40027 0 NA
9-112900572-G-A p.Ser685Ser synonymous AKAP2 4 80088 4.99451E-5 40044 0 3.29853E-5
9-112900572-G-T p.Ser685Ser synonymous AKAP2 13 80088 1.62321E-4 40044 0 5.18135E-4
9-112900576-G-T p.Ala687Ser missense AKAP2 1 80076 1.24881E-5 40038 0 NA
9-112900591-A-G p.Ser692Gly missense AKAP2 1 80132 1.24794E-5 40066 0 4.01765E-6
9-112900592-G-A p.Ser692Asn missense AKAP2 2 80122 2.49619E-5 40061 0 NA
9-112900605-C-T p.Leu696Leu synonymous AKAP2 5 80114 6.24111E-5 40057 0 6.37105E-5
9-112900606-C-G p.Leu697Val missense AKAP2 1 80122 1.2481E-5 40061 0 NA
9-112900608-G-A p.Leu697Leu synonymous AKAP2 31 80112 3.86958E-4 40056 0 0.00105102
9-112900626-C-T p.Asp703Asp synonymous AKAP2 14 80126 1.74725E-4 40063 0 0.00207254
9-112900627-G-A p.Val704Met missense AKAP2 7 80132 8.73559E-5 40066 0 1.27397E-4
9-112900627-G-T p.Val704Leu missense AKAP2 8 80132 9.98353E-5 40066 0 1.27397E-4
9-112900628-T-C p.Val704Ala missense AKAP2 1 80130 1.24797E-5 40065 0 4.01655E-6
9-112900649-T-C p.Leu711Pro missense AKAP2 1 80172 1.24732E-5 40086 0 NA
9-112900651-A-C p.Arg712Arg synonymous AKAP2 1 80156 1.24757E-5 40078 0 NA
9-112900666-C-T p.Arg717Trp missense AKAP2 4 80152 4.99052E-5 40076 0 4.01674E-6
9-112900667-G-A p.Arg717Gln missense AKAP2 3 80162 3.74242E-5 40081 0 3.18451E-5
9-112900673-T-C p.Leu719Ser missense AKAP2 1 80178 1.24722E-5 40089 0 4.01642E-6
9-112900684-G-A p.Glu723Lys missense AKAP2 1 80236 1.24632E-5 40118 0 NA
9-112900694-T-C p.Ile726Thr missense AKAP2 1 80292 1.24545E-5 40146 0 NA
9-112900696-C-T p.Arg727* stop_gained AKAP2 1 80300 1.24533E-5 40150 0 4.01668E-6
9-112900697-G-A p.Arg727Gln missense AKAP2 1 80296 1.24539E-5 40148 0 8.23954E-6
9-112900700-C-A p.Ala728Glu missense AKAP2 2 80304 2.49054E-5 40152 0 6.25E-4
9-112900730-G-GGCAGAGACAAGTCTT p.Arg740_Gln744dup disruptive_inframe_insertion AKAP2 2 80372 2.48843E-5 40186 0 1.20498E-5
9-112900754-C-T p.Thr746Met missense AKAP2 9 80334 1.12032E-4 40167 0 8.27691E-5
9-112900760-G-A p.Ser748Asn missense AKAP2 1 80324 1.24496E-5 40162 0 6.63405E-5
9-112900774-A-C p.Asn753His missense AKAP2 1 80268 1.24583E-5 40134 0 4.03405E-6
9-112900776-T-C p.Asn753Asn synonymous AKAP2 1 80270 1.2458E-5 40135 0 3.18492E-5
9-112900777-G-T p.Ala754Ser missense AKAP2 2 80262 2.49184E-5 40131 0 6.36862E-5
9-112900782-A-G p.Pro755Pro synonymous AKAP2 2 80244 2.4924E-5 40122 0 0.00155602
9-112900785-A-G p.Ser756Ser synonymous AKAP2 19944 79220 0.251755 39610 2638 0.299691
9-112900794-C-CTGGCCACTCAAGAATCTGACGTG p.Arg760fs frameshift AKAP2 1 80166 1.24741E-5 40083 0 NA
9-112900802-G-A p.Cys762Tyr missense AKAP2 1 80044 1.24931E-5 40022 0 5.54232E-5
9-112910984-G-GGAAAATAGAGAAAGTCAAACCTCC n.176+1_176+2insGAAAATAGAGAAAGTCAAACCTCC splice_donor AKAP2 1 12 0.0833333 6 0 NA
9-112918627-A-G p.Pro777Pro synonymous AKAP2 7 80332 8.71384E-5 40166 0 1.27502E-4
9-112918631-C-G p.Pro779Ala missense AKAP2 1 80342 1.24468E-5 40171 0 NA
9-112918631-C-T p.Pro779Ser missense AKAP2 4 80342 4.97872E-5 40171 0 6.37064E-5
9-112918635-C-G p.Thr780Ser missense AKAP2 1 80348 1.24459E-5 40174 0 NA
9-112918641-A-G p.Glu782Gly missense AKAP2 1 80346 1.24462E-5 40173 0 NA
9-112918642-A-T p.Glu782Asp missense AKAP2 1 80344 1.24465E-5 40172 0 4.08257E-6
9-112918654-G-A p.Leu786Leu synonymous AKAP2 1 80352 1.24452E-5 40176 0 4.06207E-6
9-112918669-C-T p.Ala791Ala synonymous AKAP2 1 80348 1.24459E-5 40174 0 8.24498E-6
9-112918674-A-C p.Glu793Ala missense AKAP2 1 80342 1.24468E-5 40171 0 8.24511E-6
9-112918675-A-G p.Glu793Glu synonymous AKAP2 1 80348 1.24459E-5 40174 0 NA
9-112918687-A-G p.Gly797Gly synonymous AKAP2 2 80338 2.48948E-5 40169 0 4.03346E-6
9-112918691-C-T p.Gln799* stop_gained AKAP2 1 80338 1.24474E-5 40169 0 NA
9-112918694-C-T p.Arg800Trp missense AKAP2 3 80324 3.73487E-5 40162 0 4.12154E-5
9-112918695-G-A p.Arg800Gln missense AKAP2 1 80322 1.24499E-5 40161 0 3.18451E-5
9-112918704-A-G p.Asn803Ser missense AKAP2 4 80340 4.97884E-5 40170 0 0.003125
9-112918712-C-T p.Gln806* stop_gained AKAP2 1 80334 1.2448E-5 40167 0 NA
9-112918714-G-C p.Gln806His missense AKAP2 7 80326 8.71449E-5 40163 0 4.94633E-5
9-112918717-C-T p.Thr807Thr synonymous AKAP2 1 80326 1.24493E-5 40163 0 4.03936E-6
9-112918720-C-T p.Leu808Leu synonymous AKAP2 2 80328 2.48979E-5 40164 0 4.03809E-6
9-112918730-T-A p.Tyr812Asn missense AKAP2 1 80318 1.24505E-5 40159 0 3.18532E-5
9-112918737-C-T p.Thr814Ile missense AKAP2 1 80328 1.2449E-5 40164 0 8.25273E-6
9-112918740-A-G p.His815Arg missense AKAP2 1 80326 1.24493E-5 40163 0 NA
9-112918746-C-G p.Ser817Cys missense AKAP2 1 80338 1.24474E-5 40169 0 NA
9-112918751-A-C p.Arg819Arg synonymous AKAP2 6 80340 7.46826E-5 40170 0 1.27397E-4
9-112918754-C-T p.Arg820Cys missense AKAP2 1 80330 1.24486E-5 40165 0 3.18573E-5
9-112918755-G-A p.Arg820His missense AKAP2 572 80326 0.00712098 40163 1 0.0078996
9-112918756-C-T p.Arg820Arg synonymous AKAP2 8 80328 9.95917E-5 40164 0 1.84582E-4
9-112918761-G-A p.Arg822Lys missense AKAP2 4 80334 4.97921E-5 40167 0 8.32293E-6
9-112918764-T-C p.Met823Thr missense AKAP2 3 80326 3.73478E-5 40163 0 1.91107E-4
9-112918779-T-TCCTCG c.2481+2_2481+3insCCTCG splice_region AKAP2 4 80248 4.98455E-5 40124 2 NA
9-112918780-A-G c.2481+3A>G splice_region AKAP2 1 80236 1.24632E-5 40118 0 3.18613E-5
9-112918784-T-G c.2481+7T>G splice_region AKAP2 1 80208 1.24676E-5 40104 0 8.48018E-6
9-112924377-A-G p.Thr918Ala missense AKAP2 1 82932 1.20581E-5 41466 0 3.18129E-5
9-112924389-CTGTCTTGCAAGG-C p.Ser923_Val926del conservative_inframe_deletion AKAP2 1 82998 1.20485E-5 41499 0 NA
9-112924409-C-T p.Ser928Ser synonymous AKAP2 2 82932 2.41161E-5 41466 0 4.11868E-5
9-112924410-G-A p.Glu929Lys missense+splice_region AKAP2 7 82940 8.43984E-5 41470 0 8.74925E-5
9-112924412-G-A p.Glu929Glu splice_region+synonymous AKAP2 1 82958 1.20543E-5 41479 0 NA
9-112930683-T-C p.Leu829Pro missense AKAP2 1 80282 1.24561E-5 40141 0 8.03684E-6
9-112930684-C-T n.361C>T splice_region AKAP2 2 80278 2.49134E-5 40139 0 3.1839E-5
9-112930685-G-A p.Glu830Lys missense AKAP2 3 80280 3.73692E-5 40140 0 NA
9-112930694-C-T p.Arg833Trp missense AKAP2 13 80346 1.618E-4 40173 0 8.03536E-5
9-112930703-C-T p.Arg836* stop_gained AKAP2 2 80346 2.48923E-5 40173 0 1.64832E-5
9-112930704-G-A p.Arg836Gln missense AKAP2 1 80344 1.24465E-5 40172 0 1.64832E-5
9-112930707-G-A p.Arg837Lys missense AKAP2 1 80352 1.24452E-5 40176 0 NA
9-112930707-G-C p.Arg837Thr missense AKAP2 1 80352 1.24452E-5 40176 0 NA
9-112930714-C-T p.Ser839Ser synonymous AKAP2 1 80350 1.24456E-5 40175 0 3.18492E-5
9-112930715-G-A p.Ala840Thr missense AKAP2 2 80352 2.48905E-5 40176 0 3.61489E-5
9-112930720-G-A p.Leu841Leu synonymous AKAP2 5 80354 6.22247E-5 40177 0 6.25E-4
9-112930727-C-T p.Arg844Cys missense AKAP2 20 80364 2.48868E-4 40182 2 6.59359E-5
9-112930728-G-T p.Arg844Leu missense AKAP2 1 80368 1.24428E-5 40184 0 3.29679E-5
9-112930737-C-A p.Ala847Glu missense AKAP2 1 80370 1.24425E-5 40185 0 NA
9-112930743-T-A p.Ile849Asn missense AKAP2 1 80356 1.24446E-5 40178 0 4.01629E-6
9-112930752-A-G p.Asn852Ser missense AKAP2 1 80342 1.24468E-5 40171 0 NA
9-112930765-A-G p.Glu856Glu synonymous AKAP2 1 80300 1.24533E-5 40150 0 NA
9-112930766-G-A p.Asp857Asn missense AKAP2 1 80302 1.2453E-5 40151 0 NA
9-112930771-C-T p.Asn858Asn synonymous AKAP2 14 80282 1.74385E-4 40141 0 6.83406E-5
9-112930772-G-A p.Glu859Lys missense AKAP2 14 80282 1.74385E-4 40141 0 6.03098E-5
9-112931168-G-C n.859G>C splice_region AKAP2 129 41694 0.00309397 20847 1 0.00589247