Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
13-25742674-G-T c.*1068C>A splice_region AMER2 7 14568 4.80505E-4 7284 0 5.3432E-4
13-25742676-G-A c.*1066C>T splice_region AMER2 1 16192 6.17589E-5 8096 0 NA
13-25743748-C-G p.Lys551Asn missense AMER2 1299 83272 0.0155995 41636 14 0.0137641
13-25743752-T-G p.Lys550Thr missense AMER2 1 83304 1.20042E-5 41652 0 NA
13-25743762-C-A p.Asp547Tyr missense AMER2 4 83296 4.80215E-5 41648 0 8.49293E-6
13-25743779-C-T p.Arg541Lys missense AMER2 2 83272 2.40177E-5 41636 0 8.73729E-6
13-25743781-G-C p.Ile540Met missense AMER2 1875 83252 0.022522 41626 88 0.0333758
13-25743803-C-T p.Arg533Gln missense AMER2 5 83314 6.00139E-5 41657 0 1.52713E-4
13-25743805-G-A p.Asn532Asn synonymous AMER2 1 83324 1.20013E-5 41662 0 3.18451E-5
13-25743816-T-C p.Arg529Gly missense AMER2 1 83332 1.20002E-5 41666 0 NA
13-25743819-G-T p.Arg528Ser missense AMER2 2 83326 2.40021E-5 41663 0 3.98016E-6
13-25743826-C-A p.Val525Val synonymous AMER2 2 83330 2.4001E-5 41665 0 3.97833E-6
13-25743848-G-A p.Thr518Ile missense AMER2 2 83344 2.39969E-5 41672 0 8.24579E-6
13-25743873-G-A p.Pro510Ser missense AMER2 1 83352 1.19973E-5 41676 0 NA
13-25743900-A-G p.Ser501Pro missense AMER2 1 83368 1.1995E-5 41684 0 NA
13-25743901-T-C p.Pro500Pro synonymous AMER2 4 83368 4.798E-5 41684 0 9.55414E-5
13-25743906-G-GCATCCCTCTTTCTGGT p.Leu499fs frameshift AMER2 1 83374 1.19941E-5 41687 0 NA
13-25743908-T-C p.Asn498Ser missense AMER2 6 83372 7.19666E-5 41686 0 6.37918E-5
13-25743924-T-C p.Ile493Val missense AMER2 2 83372 2.39889E-5 41686 0 3.97719E-6
13-25743961-T-C p.Pro480Pro synonymous AMER2 1 83316 1.20025E-5 41658 0 8.24701E-6
13-25743999-C-A p.Val468Leu missense AMER2 4 83254 4.80457E-5 41627 0 0.001875
13-25744010-C-T p.Arg464Gln missense AMER2 2 83220 2.40327E-5 41610 0 6.37552E-5
13-25744012-G-A p.Ser463Ser synonymous AMER2 183 83200 0.00219952 41600 1 0.00478011
13-25744017-G-A p.Leu462Leu synonymous AMER2 1 83170 1.20236E-5 41585 0 3.97722E-6
13-25744025-G-A p.Thr459Met missense AMER2 2 83140 2.40558E-5 41570 0 3.18167E-5
13-25744033-G-A p.Asn456Asn synonymous AMER2 1 83122 1.20305E-5 41561 0 8.23913E-6
13-25744033-G-C p.Asn456Lys missense AMER2 1 83122 1.20305E-5 41561 0 NA
13-25744034-T-C p.Asn456Ser missense AMER2 3 83130 3.60881E-5 41565 0 1.27527E-4
13-25744043-C-G p.Gly453Ala missense AMER2 1 83098 1.2034E-5 41549 0 3.57933E-5
13-25744050-G-A p.Pro451Ser missense AMER2 8 83096 9.62742E-5 41548 0 1.64764E-5
13-25744055-G-A p.Thr449Ile missense AMER2 47 83066 5.65815E-4 41533 0 0.004375
13-25744068-C-T p.Gly445Arg missense AMER2 1 83038 1.20427E-5 41519 0 NA
13-25744072-C-T p.Pro443Pro synonymous AMER2 229 83026 0.00275817 41513 1 0.00790061
13-25744073-G-A p.Pro443Leu missense AMER2 1 83020 1.20453E-5 41510 0 1.64758E-5
13-25744084-G-C p.Leu439Leu synonymous AMER2 4 83052 4.81626E-5 41526 0 1.19335E-5
13-25744091-T-G p.Tyr437Ser missense AMER2 1 83030 1.20438E-5 41515 0 8.23927E-6
13-25744091-T-C p.Tyr437Cys missense AMER2 2 83030 2.40877E-5 41515 0 NA
13-25744096-C-G p.Ala435Ala synonymous AMER2 1 82962 1.20537E-5 41481 0 3.18837E-5
13-25744096-C-T p.Ala435Ala synonymous AMER2 2 82962 2.41074E-5 41481 0 7.95792E-6
13-25744098-C-T p.Ala435Thr missense AMER2 1 82950 1.20555E-5 41475 0 8.24144E-6
13-25744104-C-T p.Gly433Arg missense AMER2 2 82998 2.4097E-5 41499 0 NA
13-25744110-A-G p.Tyr431His missense AMER2 1 83022 1.2045E-5 41511 0 0.00125
13-25744114-A-G p.Asp429Asp synonymous AMER2 3 83012 3.61394E-5 41506 0 NA
13-25744121-G-C p.Pro427Arg missense AMER2 4 82986 4.82009E-5 41493 0 6.37105E-5
13-25744128-C-A p.Gly425Cys missense AMER2 1 83002 1.20479E-5 41501 0 NA
13-25744129-C-A p.Ala424Ala synonymous AMER2 2 83002 2.40958E-5 41501 0 NA
13-25744143-T-C p.Ser420Gly missense AMER2 3 83058 3.61193E-5 41529 0 1.59359E-5
13-25744144-G-C p.Ser419Arg missense AMER2 1 83034 1.20433E-5 41517 0 NA
13-25744148-G-A p.Ser418Leu missense AMER2 229 83028 0.00275811 41514 2 0.00503525
13-25744153-G-A p.Asp416Asp synonymous AMER2 1 83052 1.20406E-5 41526 0 NA
13-25744162-T-G p.Pro413Pro synonymous AMER2 3 83052 3.61219E-5 41526 0 3.98549E-6
13-25744165-G-C p.Gly412Gly synonymous AMER2 1 83034 1.20433E-5 41517 0 3.98486E-6
13-25744171-C-A p.Thr410Thr synonymous AMER2 1 83046 1.20415E-5 41523 0 NA
13-25744172-G-A p.Thr410Met missense AMER2 4 83080 4.81464E-5 41540 0 6.37146E-5
13-25744177-G-T p.Ser408Ser synonymous AMER2 2 83094 2.40691E-5 41547 0 NA
13-25744188-A-G p.Tyr405His missense AMER2 1 83078 1.20369E-5 41539 0 7.968E-6
13-25744189-G-A p.Gly404Gly synonymous AMER2 9 83086 1.08321E-4 41543 0 3.18715E-4
13-25744195-G-A p.Asp402Asp synonymous AMER2 1 83064 1.20389E-5 41532 0 3.18715E-5
13-25744207-G-C p.Val398Val synonymous AMER2 33 83012 3.97533E-4 41506 1 0.00352467
13-25744212-C-T p.Gly397Ser missense AMER2 2 83024 2.40894E-5 41512 0 6.25E-4
13-25744216-C-T p.Gln395Gln synonymous AMER2 1 83052 1.20406E-5 41526 0 NA
13-25744228-C-T p.Glu391Glu synonymous AMER2 1 83040 1.20424E-5 41520 0 3.9813E-6
13-25744248-C-G p.Glu385Gln missense AMER2 1 83032 1.20435E-5 41516 0 NA
13-25744251-T-G p.Lys384Gln missense AMER2 2 83028 2.40883E-5 41514 0 NA
13-25744282-C-A p.Arg373Ser missense AMER2 1 83028 1.20441E-5 41514 0 1.65862E-5
13-25744286-C-G p.Arg372Thr missense AMER2 1 83050 1.20409E-5 41525 0 NA
13-25744291-C-T p.Lys370Lys synonymous AMER2 1 83038 1.20427E-5 41519 0 NA
13-25744295-A-G p.Val369Ala missense AMER2 1 83016 1.20459E-5 41508 0 NA
13-25744302-A-G p.Ser367Pro missense AMER2 1 82990 1.20496E-5 41495 0 NA
13-25744303-C-T p.Ala366Ala synonymous AMER2 5 82996 6.02439E-5 41498 0 9.56816E-5
13-25744304-G-T p.Ala366Glu missense AMER2 1054 82976 0.0127025 41488 17 0.0206432
13-25744305-C-T p.Ala366Thr missense AMER2 7 82982 8.43556E-5 41491 0 8.41595E-6
13-25744315-C-T p.Ala362Ala synonymous AMER2 38 82970 4.57997E-4 41485 0 4.23141E-4
13-25744316-G-A p.Ala362Val missense AMER2 1 82968 1.20528E-5 41484 0 NA
13-25744319-T-A p.Glu361Val missense AMER2 5 82986 6.02511E-5 41493 0 3.19E-5
13-25744348-G-A p.Pro351Pro synonymous AMER2 3 82880 3.61969E-5 41440 0 8.73759E-6
13-25744358-T-C p.Lys348Arg missense AMER2 2 82882 2.41307E-5 41441 0 1.21621E-5
13-25744360-G-C p.Thr347Thr synonymous AMER2 1 82906 1.20619E-5 41453 0 4.05979E-6
13-25744361-G-A p.Thr347Ile missense AMER2 1 82902 1.20624E-5 41451 0 8.78148E-6
13-25744366-C-G p.Leu345Leu synonymous AMER2 2 82900 2.41255E-5 41450 0 3.18857E-5
13-25744370-G-T p.Ala344Glu missense AMER2 39 82884 4.70537E-4 41442 0 0.00375
13-25744370-G-A p.Ala344Val missense AMER2 1 82886 1.20648E-5 41443 0 1.76929E-5
13-25744371-C-T p.Ala344Thr missense AMER2 1 82896 1.20633E-5 41448 0 6.37511E-5
13-25744383-T-C p.Lys340Glu missense AMER2 2 82930 2.41167E-5 41465 0 NA
13-25744386-C-T p.Ala339Thr missense AMER2 1 82896 1.20633E-5 41448 0 8.86997E-6
13-25744389-C-T p.Ala338Thr missense AMER2 1 82866 1.20677E-5 41433 0 NA
13-25744402-C-T p.Glu333Glu synonymous AMER2 1 82824 1.20738E-5 41412 0 1.61381E-5
13-25744407-G-C p.Pro332Ala missense AMER2 1 82804 1.20767E-5 41402 0 NA
13-25744414-C-A p.Glu329Asp missense AMER2 1 82728 1.20878E-5 41364 0 6.09884E-5
13-25744416-C-T p.Glu329Lys missense AMER2 1 82748 1.20849E-5 41374 0 NA
13-25744417-C-T p.Glu328Glu synonymous AMER2 1 82742 1.20858E-5 41371 0 8.68614E-6
13-25744418-T-C p.Glu328Gly missense AMER2 1 82706 1.2091E-5 41353 0 8.67634E-6
13-25744420-G-A p.Thr327Thr synonymous AMER2 1 82672 1.2096E-5 41336 0 6.37959E-5
13-25744473-C-T p.Asp310Asn missense AMER2 1 82546 1.21145E-5 41273 0 8.41822E-6
13-25744480-G-A p.Ala307Ala synonymous AMER2 1 82588 1.21083E-5 41294 0 NA
13-25744511-A-T p.Val297Glu missense AMER2 8 82804 9.66137E-5 41402 0 3.18918E-5
13-25744513-C-A p.Val296Val synonymous AMER2 216 82800 0.0026087 41400 2 0.011875
13-25744516-G-C p.Gly295Gly synonymous AMER2 2 82786 2.41587E-5 41393 0 3.18939E-5
13-25744516-G-A p.Gly295Gly synonymous AMER2 2 82786 2.41587E-5 41393 0 3.99731E-6
13-25744525-C-T p.Lys292Lys synonymous AMER2 1 82934 1.20578E-5 41467 0 NA
13-25744530-T-C p.Lys291Glu missense AMER2 2 82942 2.41132E-5 41471 0 1.67339E-5
13-25744533-A-G p.Ser290Pro missense AMER2 1 82938 1.20572E-5 41469 0 NA
13-25744536-G-C p.Leu289Val missense AMER2 2 82952 2.41103E-5 41476 0 3.98985E-6
13-25744537-A-G p.Ala288Ala synonymous AMER2 1 82946 1.2056E-5 41473 0 5.01655E-5
13-25744539-C-A p.Ala288Ser missense AMER2 1 82920 1.20598E-5 41460 0 8.36386E-6
13-25744543-C-T p.Lys286Lys synonymous AMER2 2 82944 2.41127E-5 41472 0 8.34571E-6
13-25744546-G-T p.Gly285Gly synonymous AMER2 1 82870 1.20671E-5 41435 0 8.34962E-6
13-25744552-C-T p.Gly283Gly synonymous AMER2 8 82862 9.65461E-5 41431 0 1.91241E-4
13-25744556-G-A p.Pro282Leu missense AMER2 1 82946 1.2056E-5 41473 0 NA
13-25744558-G-A p.Val281Val synonymous AMER2 2 82956 2.41092E-5 41478 0 2.15868E-4
13-25744560-C-T p.Val281Ile missense AMER2 1 82940 1.20569E-5 41470 0 8.29848E-6
13-25744569-C-T p.Asp278Asn missense AMER2 1 83006 1.20473E-5 41503 0 NA
13-25744571-C-A p.Cys277Phe missense AMER2 1 83008 1.2047E-5 41504 0 NA
13-25744573-GC-TT p.Ser276Lys missense AMER2 1 82992 1.20494E-5 41496 0 NA
13-25744579-A-G p.Gly274Gly synonymous AMER2 1 83000 1.20482E-5 41500 0 3.99323E-6
13-25744586-T-C p.Glu272Gly missense AMER2 1 83134 1.20288E-5 41567 0 NA
13-25744626-G-C p.Leu378Val missense AMER2 1 83264 1.201E-5 41632 0 3.18756E-5
13-25744626-G-T p.Leu378Ile missense AMER2 12 83264 1.4412E-4 41632 0 1.57551E-4
13-25744652-A-G p.Val369Ala missense AMER2 1 83136 1.20285E-5 41568 0 NA
13-25744654-G-A p.Asp368Asp synonymous AMER2 1 83116 1.20314E-5 41558 0 NA
13-25744674-T-C p.Ile362Val missense AMER2 1 82776 1.20808E-5 41388 0 8.95688E-6
13-25744685-G-A p.Ser358Leu missense AMER2 52 82394 6.31114E-4 41197 0 4.60755E-4
13-25744687-C-G p.Pro357Pro synonymous AMER2 4 82320 4.85909E-5 41160 0 2.42726E-5
13-25744688-G-A p.Pro357Leu missense AMER2 3 82320 3.64431E-5 41160 0 8.11846E-6
13-25744693-T-G p.Ser355Ser synonymous AMER2 1 82276 1.21542E-5 41138 0 3.18505E-5
13-25744717-G-A p.Asp347Asp synonymous AMER2 1 81866 1.22151E-5 40933 0 NA
13-25744719-C-A p.Asp347Tyr missense AMER2 1 81804 1.22243E-5 40902 0 4.44709E-6
13-25744723-G-C p.Ala345Ala synonymous AMER2 1 81808 1.22237E-5 40904 0 1.38759E-5
13-25744725-C-T p.Ala345Thr missense AMER2 1 81632 1.22501E-5 40816 0 5.06586E-4
13-25744744-G-C p.Gly338Gly synonymous AMER2 16 81328 1.96734E-4 40664 0 0.00101729
13-25744753-G-T p.Ser335Ser synonymous AMER2 2 81404 2.45688E-5 40702 0 0.00204708
13-25744765-G-A p.Pro331Pro synonymous AMER2 1 81234 1.23101E-5 40617 0 1.81712E-5
13-25744771-C-T p.Thr329Thr synonymous AMER2 12 81044 1.48068E-4 40522 0 2.90867E-4
13-25744787-G-A p.Ala324Val missense AMER2 4 80240 4.98504E-5 40120 0 6.38081E-5
13-25744789-C-A p.Gly323Gly synonymous AMER2 1 80338 1.24474E-5 40169 0 NA
13-25744791-C-T p.Gly323Arg missense AMER2 3 80260 3.73785E-5 40130 0 3.2041E-5
13-25744797-T-C p.Arg321Gly missense AMER2 1 80058 1.24909E-5 40029 0 1.40371E-4
13-25744798-G-A p.Ser320Ser synonymous AMER2 4 79990 5.00063E-5 39995 0 1.34991E-5
13-25744801-A-C p.Ala319Ala synonymous AMER2 2 79792 2.50652E-5 39896 0 4.39883E-4
13-25744803-C-G p.Ala319Pro missense AMER2 1 79650 1.25549E-5 39825 0 5.48847E-4
13-25744811-G-A p.Ala316Val missense AMER2 2 79040 2.53036E-5 39520 0 NA
13-25744814-G-T p.Thr315Lys missense AMER2 1 78724 1.27026E-5 39362 0 7.38116E-6
13-25744816-G-A p.Arg314Arg synonymous AMER2 1 78556 1.27298E-5 39278 0 NA
13-25744818-G-A p.Arg314Cys missense AMER2 2 78432 2.54998E-5 39216 0 NA
13-25744836-G-GCTCGGGGGGTGCCCGGGGCTT p.Glu307_Pro308insLysProArgAlaProProGlu conservative_inframe_insertion AMER2 190 75530 0.00251556 37765 1 0.00563317
13-25744844-C-A p.Arg305Leu missense AMER2 117 74860 0.00156292 37430 1 0.00396001
13-25744847-C-G p.Arg304Pro missense AMER2 1 74682 1.33901E-5 37341 0 1.31337E-4
13-25744871-C-T p.Arg296Gln missense AMER2 1 71896 1.3909E-5 35948 0 NA
13-25744888-G-A p.Pro290Pro synonymous AMER2 4 70252 5.69379E-5 35126 0 6.42963E-5
13-25744888-G-C p.Pro290Pro synonymous AMER2 1 70254 1.42341E-5 35127 0 NA
13-25744894-C-A p.Ala288Ala synonymous AMER2 1 69552 1.43777E-5 34776 0 NA
13-25744896-C-T p.Ala288Thr missense AMER2 1 69364 1.44167E-5 34682 0 NA
13-25744899-G-A p.Leu287Phe missense AMER2 2 69352 2.88384E-5 34676 0 NA
13-25744914-G-T p.Arg282Arg synonymous AMER2 12 67762 1.7709E-4 33881 0 0.00376344
13-25744914-G-C p.Arg282Gly missense AMER2 43 67756 6.3463E-4 33878 0 5.80046E-4
13-25744928-G-A p.Pro277Leu missense AMER2 1 65304 1.5313E-5 32652 0 NA
13-25744929-G-A p.Pro277Ser missense AMER2 1 65250 1.53257E-5 32625 0 NA
13-25744935-G-A p.Arg275Cys missense AMER2 1 64446 1.55169E-5 32223 0 NA
13-25744940-G-A p.Ala273Val missense AMER2 1 64200 1.55763E-5 32100 0 NA
13-25744956-C-T p.Glu268Lys missense AMER2 1 64190 1.55788E-5 32095 0 NA
13-25744956-C-G p.Glu268Gln missense AMER2 1 64190 1.55788E-5 32095 0 NA
13-25744961-C-A p.Gly266Val missense AMER2 1 64258 1.55623E-5 32129 0 2.22148E-5
13-25744964-C-A p.Gly265Val missense AMER2 2 64326 3.10916E-5 32163 0 6.41601E-5
13-25744964-C-T p.Gly265Glu missense AMER2 1 64326 1.55458E-5 32163 0 2.2853E-5
13-25744969-G-C c.781+8C>G splice_region AMER2 1 63804 1.5673E-5 31902 0 NA
13-25744979-G-T p.Ala260Glu missense+splice_region AMER2 1 64190 1.55788E-5 32095 0 3.25208E-4
13-25744983-G-C p.Pro259Ala missense AMER2 1 64036 1.56162E-5 32018 0 NA
13-25744991-G-T p.Pro256Gln missense AMER2 1 63466 1.57565E-5 31733 0 0.00102249
13-25744994-G-T p.Ala255Asp missense AMER2 1 63360 1.57828E-5 31680 0 9.31892E-5
13-25744996-G-T p.Asp254Glu missense AMER2 1 63410 1.57704E-5 31705 0 NA
13-25745007-G-A p.Pro251Ser missense AMER2 10 63854 1.56607E-4 31927 0 2.53923E-4
13-25745008-C-G p.Glu250Asp missense AMER2 2 63854 3.13215E-5 31927 0 NA
13-25745015-G-C p.Pro248Arg missense AMER2 1 63384 1.57769E-5 31692 0 NA
13-25745016-G-A p.Pro248Ser missense AMER2 1 63518 1.57436E-5 31759 0 NA
13-25745023-C-A p.Ala245Ala synonymous AMER2 1 62802 1.59231E-5 31401 0 NA
13-25745023-C-G p.Ala245Ala synonymous AMER2 1 62802 1.59231E-5 31401 0 1.25188E-5
13-25745032-G-A p.Pro242Pro synonymous AMER2 1 64506 1.55024E-5 32253 0 NA
13-25745037-T-G p.Thr241Pro missense AMER2 1 64790 1.54345E-5 32395 0 NA
13-25745053-C-T p.Glu235Glu synonymous AMER2 2 67020 2.98418E-5 33510 0 3.22352E-5
13-25745056-C-T p.Leu234Leu synonymous AMER2 1 67450 1.48258E-5 33725 0 NA
13-25745057-A-T p.Leu234Gln missense AMER2 4 67432 5.9319E-5 33716 0 2.70576E-4
13-25745064-C-A p.Ala232Ser missense AMER2 1 67694 1.47724E-5 33847 0 NA
13-25745065-G-A p.Thr231Thr synonymous AMER2 1 67898 1.4728E-5 33949 0 3.22914E-5
13-25745069-A-G p.Leu230Pro missense AMER2 3 68164 4.40115E-5 34082 0 NA
13-25745072-G-C p.Ser229Trp missense AMER2 3 68502 4.37943E-5 34251 0 7.41191E-6
13-25745077-G-C p.Pro227Pro synonymous AMER2 1 69888 1.43086E-5 34944 0 3.71922E-5
13-25745078-G-A p.Pro227Leu missense AMER2 2 70166 2.85038E-5 35083 0 3.22497E-5
13-25745079-G-A p.Pro227Ser missense AMER2 1 70300 1.42248E-5 35150 0 6.33714E-4
13-25745080-T-C p.Leu226Leu synonymous AMER2 156 69776 0.00223573 34888 0 0.00597635
13-25745083-G-A p.Ile225Ile synonymous AMER2 1 70978 1.40889E-5 35489 0 NA
13-25745093-C-T p.Gly222Asp missense AMER2 2 71864 2.78303E-5 35932 0 3.22352E-5
13-25745096-C-T p.Gly221Glu missense AMER2 1 72340 1.38236E-5 36170 0 2.32242E-5
13-25745098-G-C p.Pro220Pro synonymous AMER2 1138 72012 0.0158029 36006 12 0.0149284
13-25745099-G-A p.Pro220Leu missense AMER2 2 72266 2.76755E-5 36133 0 8.1686E-5
13-25745102-G-A p.Ala219Val missense AMER2 5 72214 6.92387E-5 36107 0 7.43265E-5
13-25745102-G-C p.Ala219Gly missense AMER2 1 72214 1.38477E-5 36107 0 NA
13-25745103-C-T p.Ala219Thr missense AMER2 1 72354 1.38209E-5 36177 0 NA
13-25745106-G-C p.Arg218Gly missense AMER2 2 72652 2.75285E-5 36326 0 5.62917E-6
13-25745113-C-A p.Ala215Ala synonymous AMER2 41 73554 5.57414E-4 36777 1 9.6463E-5
13-25745118-C-G p.Ala214Pro missense AMER2 4 73948 5.40921E-5 36974 0 1.60761E-4
13-25745122-C-T p.Ala212Ala synonymous AMER2 3 74286 4.03845E-5 37143 0 1.05795E-5
13-25745132-C-T p.Arg209Gln missense AMER2 1 75264 1.32866E-5 37632 0 9.65009E-6
13-25745133-G-A p.Arg209Trp missense AMER2 1 75226 1.32933E-5 37613 0 3.21295E-5
13-25745145-T-C p.Arg205Gly missense AMER2 1 75910 1.31735E-5 37955 0 NA
13-25745154-G-C p.Arg202Gly missense AMER2 1 76160 1.31303E-5 38080 0 9.63453E-5
13-25745157-T-A p.Met201Leu missense AMER2 1 76320 1.31027E-5 38160 0 NA
13-25745157-T-C p.Met201Val missense AMER2 1 76320 1.31027E-5 38160 0 NA
13-25745160-C-A p.Gly200Cys missense AMER2 1 76514 1.30695E-5 38257 0 6.40861E-5
13-25745172-C-T p.Gly196Arg missense AMER2 10 76930 1.29988E-4 38465 0 1.08532E-4
13-25745179-C-T p.Gly193Gly synonymous AMER2 2 77072 2.59498E-5 38536 0 2.69784E-5
13-25745199-C-T p.Gly187Ser missense AMER2 1 77502 1.29029E-5 38751 0 NA
13-25745212-G-T p.Asp182Glu missense AMER2 1 77662 1.28763E-5 38831 0 NA
13-25745221-C-T p.Glu179Glu synonymous AMER2 1 77684 1.28727E-5 38842 0 NA
13-25745234-T-C p.Asn175Ser missense AMER2 1 77524 1.28992E-5 38762 0 6.41272E-5
13-25745238-C-G p.Glu174Gln missense AMER2 3 77512 3.87037E-5 38756 0 NA
13-25745239-C-G p.Ser173Ser synonymous AMER2 1 77462 1.29096E-5 38731 0 NA
13-25745240-G-A p.Ser173Leu missense AMER2 1 77464 1.29092E-5 38732 0 NA
13-25745247-C-T p.Gly171Arg missense AMER2 1 77388 1.29219E-5 38694 0 NA
13-25745265-A-C p.Ser165Ala missense AMER2 1 76990 1.29887E-5 38495 0 NA
13-25745285-G-C p.Ala158Gly missense AMER2 1 75956 1.31655E-5 37978 0 5.29442E-6
13-25745286-C-G p.Ala158Pro missense AMER2 191 75996 0.00251329 37998 1 0.0216734
13-25745286-C-T p.Ala158Thr missense AMER2 3 76002 3.94726E-5 38001 0 1.92545E-5
13-25745290-C-A p.Ser156Ser synonymous AMER2 1 75746 1.3202E-5 37873 0 NA
13-25745298-T-C p.Ser154Gly missense AMER2 1 75276 1.32844E-5 37638 0 NA
13-25745303-A-G p.Leu152Pro missense AMER2 1 75070 1.33209E-5 37535 0 1.04267E-5
13-25745309-C-T p.Gly150Asp missense AMER2 2 74370 2.68926E-5 37185 0 2.292E-5
13-25745310-C-T p.Gly150Ser missense AMER2 2 74274 2.69273E-5 37137 0 2.30017E-5
13-25745312-C-A p.Gly149Val missense AMER2 1 74156 1.34851E-5 37078 0 NA
13-25745314-G-T p.Gly148Gly synonymous AMER2 1 73888 1.3534E-5 36944 0 3.67742E-5
13-25745321-C-T p.Gly146Glu missense AMER2 1 73212 1.3659E-5 36606 0 NA
13-25745333-G-A p.Pro142Leu missense AMER2 1 72854 1.37261E-5 36427 0 NA
13-25745334-G-A p.Pro142Ser missense AMER2 1 72806 1.37351E-5 36403 0 9.94855E-5
13-25745335-G-A p.Pro141Pro synonymous AMER2 1 72728 1.37499E-5 36364 0 NA
13-25745337-G-A p.Pro141Ser missense AMER2 1 70932 1.4098E-5 35466 0 3.81913E-5
13-25745338-C-T p.Gly140Gly synonymous AMER2 1 70950 1.40944E-5 35475 0 NA
13-25745341-C-G p.Pro139Pro synonymous AMER2 1 70736 1.41371E-5 35368 0 NA
13-25745345-T-G p.Asn138Thr missense AMER2 1 70434 1.41977E-5 35217 0 NA
13-25745353-C-T p.Gly135Gly synonymous AMER2 3 70224 4.27204E-5 35112 0 1.94024E-4
13-25745360-C-CCGCCCCCGCCGCTGT p.Asp128_Gly132dup conservative_inframe_insertion AMER2 1 70166 1.42519E-5 35083 0 9.84898E-5
13-25745360-CCGCCCCCGCCGCTGT-C p.Asp128_Gly132del disruptive_inframe_deletion AMER2 2 70166 2.85038E-5 35083 0 NA
13-25745363-C-T p.Gly132Asp missense AMER2 3 70494 4.25568E-5 35247 0 6.51806E-5
13-25745376-C-A p.Asp128Tyr missense AMER2 1 71698 1.39474E-5 35849 0 NA
13-25745380-C-T p.Gly126Gly synonymous AMER2 13 72462 1.79404E-4 36231 0 7.76518E-5
13-25745383-G-C p.Gly125Gly synonymous AMER2 202 72030 0.00280439 36015 2 0.00805791
13-25745384-C-T p.Gly125Asp missense AMER2 2 72582 2.7555E-5 36291 0 NA
13-25745391-GCTC-G p.Glu122del conservative_inframe_deletion AMER2 1 73404 1.36232E-5 36702 0 NA
13-25745398-C-T p.Lys120Lys synonymous AMER2 2 75108 2.66283E-5 37554 0 2.60457E-5
13-25745407-G-A p.Ser117Ser synonymous AMER2 1 76056 1.31482E-5 38028 0 1.65295E-5
13-25745408-C-T p.Ser117Asn missense AMER2 3 76478 3.9227E-5 38239 0 1.61353E-4
13-25745419-C-T p.Leu113Leu synonymous AMER2 1 78448 1.27473E-5 39224 0 NA
13-25745427-C-T p.Glu111Lys missense AMER2 1 78892 1.26756E-5 39446 0 NA
13-25745428-G-C p.Ala110Ala synonymous AMER2 1 78824 1.26865E-5 39412 0 NA
13-25745452-C-T p.Arg102Arg synonymous AMER2 1 79886 1.25178E-5 39943 0 9.13113E-5
13-25745463-C-G p.Gly99Arg missense AMER2 1 79992 1.25013E-5 39996 0 NA
13-25745465-G-A p.Thr98Met missense AMER2 1 79886 1.25178E-5 39943 0 8.51136E-6
13-25745474-G-A p.Ser95Leu missense AMER2 3 80066 3.74691E-5 40033 0 3.66739E-5
13-25745501-A-G p.Val86Ala missense AMER2 3 80012 3.74944E-5 40006 0 NA
13-25745507-A-G p.Phe84Ser missense AMER2 1 80138 1.24785E-5 40069 0 4.02969E-6
13-25745526-C-T p.Gly78Ser missense AMER2 1 79924 1.25119E-5 39962 0 NA
13-25745531-G-A p.Ser76Leu missense AMER2 1 79912 1.25138E-5 39956 0 1.20653E-5
13-25745536-C-G p.Arg74Ser missense AMER2 1 79906 1.25147E-5 39953 0 NA
13-25745550-A-C p.Leu70Val missense AMER2 9 79816 1.12759E-4 39908 0 7.57346E-5
13-25745558-G-T p.Ala67Asp missense AMER2 1 79588 1.25647E-5 39794 0 NA
13-25745574-T-A p.Lys62* stop_gained AMER2 1 79020 1.2655E-5 39510 0 NA
13-25745585-G-A p.Pro58Leu missense AMER2 4 78724 5.08104E-5 39362 0 NA
13-25745585-G-C p.Pro58Arg missense AMER2 3 78724 3.81078E-5 39362 0 NA
13-25745598-G-A p.Pro54Ser missense AMER2 2 77930 2.56641E-5 38965 0 1.76156E-5
13-25745604-C-G p.Glu52Gln missense AMER2 2 77922 2.56667E-5 38961 0 2.06706E-5
13-25745608-G-C p.Ala50Ala synonymous AMER2 1 77718 1.2867E-5 38859 0 NA
13-25745620-A-G p.His46His synonymous AMER2 2 77840 2.56937E-5 38920 0 3.19489E-5
13-25745638-C-T p.Ala40Ala synonymous AMER2 1 77130 1.29651E-5 38565 0 1.29016E-5
13-25745639-G-A p.Ala40Val missense AMER2 18 76868 2.34168E-4 38434 0 0.00138959
13-25745643-G-GGGTCCC p.Thr38_Leu39insGlyThr conservative_inframe_insertion AMER2 23 76914 2.99035E-4 38457 0 2.23471E-4
13-25745643-GGGTCCC-G p.Gly37_Thr38del conservative_inframe_deletion AMER2 2 76918 2.60017E-5 38459 0 1.29794E-5
13-25745645-G-A p.Thr38Ile missense AMER2 120 76752 0.00156348 38376 1 0.00630517
13-25745647-C-T p.Gly37Gly synonymous AMER2 3 76770 3.90778E-5 38385 0 3.22172E-4
13-25745652-T-TCCCGGC p.Gly35_Thr36insAlaGly conservative_inframe_insertion AMER2 3 76138 3.94021E-5 38069 0 NA
13-25745652-T-C p.Thr36Ala missense AMER2 2 76138 2.62681E-5 38069 0 1.27747E-4
13-25745654-C-T p.Gly35Glu missense AMER2 1 76372 1.30938E-5 38186 0 1.14273E-5
13-25745656-G-C p.Ala34Ala synonymous AMER2 1 76074 1.31451E-5 38037 0 6.31313E-4
13-25745658-C-T p.Ala34Thr missense AMER2 2 75954 2.63317E-5 37977 0 2.1966E-4
13-25745669-G-A p.Ala30Val missense AMER2 1 74696 1.33876E-5 37348 0 3.19346E-5
13-25745674-C-T p.Arg28Arg synonymous AMER2 5 74644 6.69846E-5 37322 0 6.6601E-5
13-25745676-T-C p.Arg28Gly missense AMER2 1 74346 1.34506E-5 37173 0 NA
13-25745679-T-C p.Arg27Gly missense AMER2 1 74190 1.34789E-5 37095 0 1.39175E-5
13-25745691-C-T p.Val23Met missense AMER2 1 72782 1.37397E-5 36391 0 NA
13-25745691-C-A p.Val23Leu missense AMER2 2 72782 2.74793E-5 36391 0 4.98256E-5
13-25745695-C-G p.Ala21Ala synonymous AMER2 1 72178 1.38546E-5 36089 0 NA
13-25745698-G-T p.Gly20Gly synonymous AMER2 1 71600 1.39665E-5 35800 0 1.94583E-5
13-25745704-T-C p.Gly18Gly synonymous AMER2 1 70604 1.41635E-5 35302 0 2.64613E-5
13-25745712-G-C p.Arg16Gly missense AMER2 1 70404 1.42037E-5 35202 0 3.19509E-5
13-25745725-C-CCCGCCG p.Gly10_Gly11dup disruptive_inframe_insertion AMER2 1 70552 1.41739E-5 35276 0 NA
13-25745727-C-A p.Gly11Trp missense AMER2 3 70066 4.28168E-5 35033 0 0.00647668
13-25745727-C-T p.Gly11Arg missense AMER2 1 70066 1.42723E-5 35033 0 NA
13-25745728-G-A p.Gly10Gly synonymous AMER2 1 69786 1.43295E-5 34893 0 NA
13-25745730-C-A p.Gly10Cys missense AMER2 1 69982 1.42894E-5 34991 0 NA
13-25745731-G-A p.Gly9Gly synonymous AMER2 4 69724 5.73691E-5 34862 0 3.19142E-5
13-25745737-G-GCGGCTC p.Arg7_Gly8insSerArg disruptive_inframe_insertion AMER2 1 69784 1.43299E-5 34892 0 NA
13-25745740-G-A p.Ser6Ser synonymous AMER2 45 69738 6.45272E-4 34869 1 0.00203346
13-25745742-T-C p.Ser6Gly missense AMER2 1 69952 1.42955E-5 34976 0 NA
13-25745778-C-A c.-21G>T 5_prime_UTR_premature_start_codon_gain AMER2 1 69718 1.43435E-5 34859 0 NA
13-25745781-T-A c.-24A>T 5_prime_UTR_premature_start_codon_gain AMER2 1 69614 1.43649E-5 34807 0 NA
13-25745975-G-A c.-218C>T 5_prime_UTR_premature_start_codon_gain AMER2 2 30494 6.55867E-5 15247 0 1.27389E-4