Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
7-121716359-G-A c.*870C>T splice_region AASS 1 60970 1.64015E-5 30485 0 NA
7-121716555-T-C p.Thr923Thr synonymous AASS 1 83154 1.20259E-5 41577 0 5.03525E-4
7-121716562-T-C p.Gln921Arg missense AASS 18 83134 2.16518E-4 41567 0 6.68619E-4
7-121716568-G-C p.Thr919Ser missense AASS 4 83130 4.81174E-5 41565 0 1.59188E-5
7-121716569-T-A p.Thr919Ser missense AASS 4 83124 4.81209E-5 41562 0 3.18451E-5
7-121716571-T-C p.Tyr918Cys missense AASS 1 83114 1.20317E-5 41557 0 3.18512E-5
7-121716573-TATA-T p.Ile917del disruptive_inframe_deletion AASS 1 83104 1.20331E-5 41552 0 3.18451E-5
7-121716578-T-C p.Ile916Val missense AASS 1 83042 1.20421E-5 41521 0 NA
7-121716582-T-G p.Glu914Asp missense AASS 1 83004 1.20476E-5 41502 0 8.2409E-6
7-121716594-T-C p.Arg910Arg synonymous AASS 1 83018 1.20456E-5 41509 0 NA
7-121716595-C-T p.Arg910Gln missense AASS 11 83004 1.32524E-4 41502 0 6.36983E-5
7-121716596-G-A p.Arg910* stop_gained AASS 7 82984 8.43536E-5 41492 0 3.98232E-6
7-121716607-G-C p.Pro906Arg missense AASS 4 82972 4.8209E-5 41486 0 NA
7-121716610-C-T p.Gly905Glu missense AASS 22 82980 2.65124E-4 41490 0 7.69059E-4
7-121716613-T-C p.Tyr904Cys missense AASS 1 82966 1.20531E-5 41483 0 2.47227E-5
7-121716625-G-A p.Ser900Leu missense AASS 1 82934 1.20578E-5 41467 0 5.03525E-4
7-121716642-G-A p.Gly894Gly synonymous AASS 2 82848 2.41406E-5 41424 0 NA
7-121716651-TC-T p.Gly891fs frameshift AASS 1 82782 1.20799E-5 41391 0 NA
7-121716655-A-G p.Ile890Thr missense AASS 6 82748 7.25093E-5 41374 0 1.19963E-5
7-121717887-CTT-C c.*567+3_*567+4delAA splice_region AASS 2 83042 2.40842E-5 41521 0 NA
7-121717891-C-T c.*567+1G>A splice_donor AASS 2 83050 2.40819E-5 41525 0 NA
7-121717898-G-A p.Leu886Phe missense AASS 1 83092 1.20349E-5 41546 0 NA
7-121717901-A-G p.Leu885Leu synonymous AASS 1 83114 1.20317E-5 41557 0 NA
7-121717904-T-C p.Met884Val missense AASS 2 83110 2.40645E-5 41555 0 8.23669E-6
7-121717916-T-C p.Met880Val missense AASS 2 83158 2.40506E-5 41579 0 5.17117E-5
7-121717919-C-T p.Ala879Thr missense AASS 1 83154 1.20259E-5 41577 0 5.03525E-4
7-121717920-G-A p.Thr878Thr synonymous AASS 8 83144 9.62186E-5 41572 0 1.67695E-5
7-121717921-G-C p.Thr878Ser missense AASS 1 83156 1.20256E-5 41578 0 NA
7-121717929-C-A p.Gly875Gly synonymous AASS 3 83166 3.60724E-5 41583 0 8.23669E-6
7-121717934-C-T p.Val874Met missense AASS 1 83168 1.20239E-5 41584 0 6.25E-4
7-121717935-G-A p.Thr873Thr synonymous AASS 1 83168 1.20239E-5 41584 0 2.38669E-5
7-121717945-A-G p.Met870Thr missense AASS 1 83192 1.20204E-5 41596 0 8.23655E-6
7-121717950-T-G p.Ser868Ser synonymous AASS 2 83218 2.40333E-5 41609 0 NA
7-121717960-T-C p.Asn865Ser missense AASS 7 83228 8.41063E-5 41614 0 9.9432E-5
7-121717982-G-T p.Leu858Ile missense AASS 1 83254 1.20114E-5 41627 0 3.18492E-5
7-121718017-T-C p.His846Arg missense AASS 19 83252 2.28223E-4 41626 0 0.00100705
7-121718033-T-A p.Ser841Cys missense AASS 2 83248 2.40246E-5 41624 0 3.1835E-5
7-121718042-T-C p.Met838Val missense AASS 4 83228 4.80607E-5 41614 0 1.07102E-4
7-121718045-C-T p.Val837Met missense AASS 1 83218 1.20166E-5 41609 0 5.04032E-4
7-121718059-TC-T p.Glu832fs frameshift AASS 1 83176 1.20227E-5 41588 0 NA
7-121718069-C-T c.*391-1G>A splice_acceptor AASS 3 83112 3.60959E-5 41556 0 3.29924E-5
7-121718071-TAAAA-T c.*391-7_*391-4delTTTT splice_region AASS 4 83116 4.81255E-5 41558 0 3.18573E-5
7-121718908-T-C c.*390+8A>G splice_region AASS 1 83288 1.20065E-5 41644 0 1.64766E-5
7-121718911-C-T c.*390+5G>A splice_region AASS 1 83302 1.20045E-5 41651 0 NA
7-121718918-T-C p.Tyr828Cys missense+splice_region AASS 3 83318 3.60066E-5 41659 0 NA
7-121718926-C-T p.Lys825Lys synonymous AASS 2 83322 2.40033E-5 41661 0 3.18532E-5
7-121718942-T-C p.Lys820Arg missense AASS 171 83336 0.00205193 41668 0 0.00366242
7-121718954-T-A p.Asp816Val missense AASS 2 83358 2.39929E-5 41679 0 NA
7-121718956-C-T p.Leu815Leu synonymous AASS 4 83358 4.79858E-5 41679 0 3.50363E-4
7-121719001-C-A p.Leu800Phe missense AASS 1 83336 1.19996E-5 41668 0 8.23737E-6
7-121719003-A-G p.Leu800Leu splice_region+synonymous AASS 2 83330 2.4001E-5 41665 0 NA
7-121719012-G-A c.*302-8C>T splice_region AASS 1 83326 1.20011E-5 41663 0 NA
7-121719683-T-C p.Gly788Gly synonymous AASS 1 83180 1.20221E-5 41590 0 3.18431E-5
7-121719697-G-T p.Leu784Ile missense AASS 2 83158 2.40506E-5 41579 0 1.56593E-4
7-121719702-G-C p.Ala782Gly missense AASS 2 83160 2.405E-5 41580 0 1.64829E-5
7-121719708-T-G p.Lys780Thr missense AASS 84 83162 0.00101008 41581 0 8.60092E-4
7-121719716-A-G p.Asp777Asp synonymous AASS 2 83162 2.40494E-5 41581 0 6.25E-4
7-121719730-A-T p.Ser773Thr missense AASS 16 83150 1.92423E-4 41575 0 5.41608E-4
7-121719732-G-T p.Pro772His missense AASS 2 83142 2.40552E-5 41571 0 2.47317E-5
7-121719733-G-C p.Pro772Ala missense AASS 1 83132 1.20291E-5 41566 0 1.64891E-5
7-121719735-G-A p.Ser771Leu missense AASS 59 83134 7.09698E-4 41567 0 0.00125
7-121719755-G-A p.Leu764Leu synonymous AASS 1 83118 1.20311E-5 41559 0 NA
7-121721554-C-T p.Trp760* stop_gained AASS 1 82932 1.20581E-5 41466 0 NA
7-121721558-G-C p.Thr759Ser missense AASS 25 82948 3.01394E-4 41474 0 5.04032E-4
7-121721558-G-A p.Thr759Ile missense AASS 11 82950 1.3261E-4 41475 0 1.24292E-4
7-121721565-G-T p.Pro757Thr missense AASS 1 82972 1.20523E-5 41486 0 3.9826E-6
7-121721571-C-A p.Ala755Ser missense AASS 1 82986 1.20502E-5 41493 0 NA
7-121721594-G-A p.Ala747Val missense AASS 2 82940 2.41138E-5 41470 0 6.25E-4
7-121721626-T-A p.Gly736Gly synonymous AASS 1 82648 1.20995E-5 41324 0 8.32473E-6
7-121721656-C-T c.*90-7G>A splice_region AASS 1 81880 1.2213E-5 40940 0 NA
7-121722843-T-C c.*88A>G splice_region AASS 2 74896 2.67037E-5 37448 0 3.18756E-5
7-121722843-T-A c.*88A>T splice_region AASS 2 74894 2.67044E-5 37447 0 7.46391E-6
7-121722880-G-A p.Ser16Phe missense AASS 2 75212 2.65915E-5 37606 0 7.44735E-6
7-121722889-A-G p.Met13Thr missense AASS 2 75248 2.65788E-5 37624 0 1.59256E-4
7-121722890-T-C p.Met13Val missense AASS 5 75250 6.64452E-5 37625 0 9.67997E-5
7-121722892-G-T p.Pro12His missense AASS 30 75256 3.98639E-4 37628 0 7.96432E-4
7-121722905-C-T p.Val8Ile missense AASS 3 75270 3.98565E-5 37635 0 1.48925E-5
7-121722912-C-T p.Leu5Leu synonymous AASS 2 75262 2.65738E-5 37631 0 NA
7-121722915-C-T p.Met4Ile missense AASS 1 75266 1.32862E-5 37633 0 NA
7-121722932-C-T p.Ter733Ter stop_retained AASS 1 75264 1.32866E-5 37632 0 NA
7-121722942-A-G p.Leu730Leu synonymous AASS 6 75254 7.973E-5 37627 0 2.23267E-5
7-121726051-AGTCCAGCTGCTTACCTTATATCTCAGT-A p.Leu725fs frameshift AASS 6 82826 7.2441E-5 41413 0 1.59195E-4
7-121726068-T-G p.Lys728Gln missense+splice_region AASS 2 82998 2.4097E-5 41499 0 NA
7-121726085-C-T p.Arg722Gln missense AASS 2 83056 2.40801E-5 41528 0 1.1949E-5
7-121726086-G-A p.Arg722Trp missense AASS 1 83052 1.20406E-5 41526 0 3.18898E-5
7-121726099-A-G p.Ala717Ala synonymous AASS 1 83140 1.20279E-5 41570 0 1.65183E-5
7-121726129-T-C p.Lys707Lys synonymous AASS 2 83140 2.40558E-5 41570 0 NA
7-121726132-C-T p.Thr706Thr synonymous AASS 8 83138 9.62256E-5 41569 0 7.16909E-5
7-121726133-G-A p.Thr706Met missense AASS 6 83138 7.21692E-5 41569 0 6.7708E-5
7-121726147-A-C p.Pro701Pro synonymous AASS 1 83162 1.20247E-5 41581 0 NA
7-121726151-T-G p.Tyr700Ser missense AASS 1 83164 1.20244E-5 41582 0 NA
7-121726172-G-A p.Pro693Leu missense AASS 1 83134 1.20288E-5 41567 0 NA
7-121726173-G-GA p.Pro693fs frameshift AASS 2 83134 2.40575E-5 41567 0 8.32127E-6
7-121726173-GA-G p.Pro693fs frameshift AASS 1 83134 1.20288E-5 41567 0 1.66425E-5
7-121726186-G-C p.Ser688Ser synonymous AASS 1 83128 1.20296E-5 41564 0 NA
7-121726189-C-T p.Thr687Thr synonymous AASS 1 83110 1.20322E-5 41555 0 4.18676E-5
7-121726194-C-T p.Val686Ile missense AASS 1 83106 1.20328E-5 41553 0 5.03525E-4
7-121726195-G-A p.Ala685Ala synonymous AASS 12 83110 1.44387E-4 41555 0 2.86752E-4
7-121726196-G-A p.Ala685Val missense AASS 1 83098 1.2034E-5 41549 0 NA
7-121726204-A-C p.Phe682Leu missense AASS 1 83134 1.20288E-5 41567 0 NA
7-121726207-G-A p.Ser681Ser synonymous AASS 1 83134 1.20288E-5 41567 0 2.11056E-4
7-121726215-C-T p.Gly679Ser missense AASS 3 83092 3.61046E-5 41546 0 3.18512E-5
7-121726219-T-G p.Ala677Ala synonymous AASS 5 83080 6.0183E-5 41540 0 1.19771E-5
7-121726222-A-C p.Val676Val synonymous AASS 2 83090 2.40703E-5 41545 0 3.19463E-5
7-121731764-T-C p.Asp670Gly missense AASS 1 83054 1.20404E-5 41527 0 NA
7-121731765-C-T p.Asp670Asn missense AASS 5 83054 6.02018E-5 41527 0 2.79091E-5
7-121731766-G-A p.Leu669Leu synonymous AASS 2 83040 2.40848E-5 41520 0 1.19601E-5
7-121731769-C-A p.Leu668Leu synonymous AASS 1 83040 1.20424E-5 41520 0 NA
7-121731783-A-G p.Ser664Pro missense AASS 9 83008 1.08423E-4 41504 0 1.27437E-4
7-121731784-C-A p.Gln663His missense AASS 5 83012 6.02323E-5 41506 0 1.27405E-4
7-121731797-A-C p.Met659Arg missense AASS 2 82976 2.41034E-5 41488 0 NA
7-121731808-C-T p.Val655Val synonymous AASS 1 82938 1.20572E-5 41469 0 NA
7-121731815-C-G p.Ser653Thr missense AASS 1 82894 1.20636E-5 41447 0 1.99515E-5
7-121731841-A-G p.Asn644Asn synonymous AASS 2 82702 2.41832E-5 41351 0 NA
7-121731842-T-C p.Asn644Ser missense AASS 1 82698 1.20922E-5 41349 0 3.18451E-5
7-121731844-G-A p.Asn643Asn synonymous AASS 1 82660 1.20978E-5 41330 0 1.71795E-5
7-121731846-T-C p.Asn643Asp missense AASS 1 82648 1.20995E-5 41324 0 8.59786E-6
7-121731850-A-G p.His641His synonymous AASS 3 82608 3.63161E-5 41304 0 1.60045E-5
7-121731855-C-T p.Glu640Lys missense AASS 1 82526 1.21174E-5 41263 0 3.18512E-5
7-121731867-G-C p.Leu636Val missense AASS 1 82336 1.21454E-5 41168 0 8.95752E-6
7-121731872-C-T p.Gly634Asp missense AASS 1 82318 1.2148E-5 41159 0 3.18715E-5
7-121731874-A-G p.Cys633Cys synonymous AASS 2 82306 2.42996E-5 41153 0 NA
7-121731887-T-C p.Tyr629Cys missense AASS 1 82032 1.21904E-5 41016 0 4.04285E-6
7-121731889-T-C p.Ser628Ser synonymous AASS 4 81976 4.87948E-5 40988 0 0.00101917
7-121732890-G-C c.1875+7C>G splice_region AASS 1 82968 1.20528E-5 41484 0 NA
7-121732898-G-A p.Thr625Met missense+splice_region AASS 2 82984 2.4101E-5 41492 0 NA
7-121732911-C-T p.Glu621Lys missense AASS 12 83040 1.44509E-4 41520 0 1.59226E-4
7-121732913-T-C p.Lys620Arg missense AASS 1 83046 1.20415E-5 41523 0 NA
7-121732943-A-AT p.Met610fs frameshift AASS 1 83082 1.20363E-5 41541 0 NA
7-121732944-T-C p.Met610Val missense AASS 1 83088 1.20354E-5 41544 0 NA
7-121732944-T-A p.Met610Leu missense AASS 2 83088 2.40709E-5 41544 0 8.24837E-6
7-121732951-CA-C p.Leu607fs frameshift AASS 2 83050 2.40819E-5 41525 0 7.96369E-6
7-121732956-C-G p.Gly606Arg missense AASS 1 83042 1.20421E-5 41521 0 NA
7-121732956-C-T p.Gly606Ser missense AASS 1 83042 1.20421E-5 41521 0 NA
7-121732970-A-C p.Leu601Trp missense AASS 1 83044 1.20418E-5 41522 0 NA
7-121732990-G-A p.Gly594Gly synonymous AASS 1 83034 1.20433E-5 41517 0 NA
7-121732996-A-G p.Asp592Asp synonymous AASS 2 83046 2.4083E-5 41523 0 NA
7-121732998-C-A p.Asp592Tyr missense AASS 2 83048 2.40825E-5 41524 0 4.12364E-5
7-121733002-C-CA p.Glu591fs frameshift AASS 2 83028 2.40883E-5 41514 0 NA
7-121733098-T-G c.1766+4A>C splice_region AASS 1 83052 1.20406E-5 41526 0 NA
7-121733101-C-T c.1766+1G>A splice_donor AASS 1 83052 1.20406E-5 41526 0 NA
7-121733108-T-A p.Glu587Val missense AASS 1 83082 1.20363E-5 41541 0 NA
7-121733112-A-G p.Leu586Leu synonymous AASS 2 83080 2.40732E-5 41540 0 8.24837E-6
7-121733119-T-C p.Leu583Leu synonymous AASS 1 83074 1.20375E-5 41537 0 NA
7-121733130-T-C p.Thr580Ala missense AASS 1 83052 1.20406E-5 41526 0 NA
7-121733133-T-A p.Ile579Phe missense AASS 12 83048 1.44495E-4 41524 0 5.89238E-4
7-121733133-T-C p.Ile579Val missense AASS 1 83048 1.20412E-5 41524 0 NA
7-121733151-T-C p.Met573Val missense AASS 1 83000 1.20482E-5 41500 0 NA
7-121733160-T-C p.Lys570Glu missense AASS 13 82946 1.56728E-4 41473 0 8.24783E-6
7-121733167-G-A p.Ile567Ile synonymous AASS 5 82900 6.03136E-5 41450 0 1.48478E-4
7-121733187-G-A p.Leu561Phe missense AASS 1 82788 1.2079E-5 41394 0 NA
7-121733190-G-A p.Pro560Ser missense AASS 381 82752 0.00460412 41376 1 0.00468213
7-121733193-G-A p.His559Tyr missense AASS 1 82722 1.20887E-5 41361 0 3.18451E-5
7-121733201-T-C p.Tyr556Cys missense AASS 1 82652 1.20989E-5 41326 0 3.98657E-6
7-121738496-A-T c.1655+8T>A splice_region AASS 1 81602 1.22546E-5 40801 0 8.30041E-6
7-121738504-C-A p.Ser552Ile missense+splice_region AASS 1 81712 1.22381E-5 40856 0 4.00279E-6
7-121738527-C-T p.Val544Val synonymous AASS 1 81910 1.22085E-5 40955 0 NA
7-121738537-C-T p.Gly541Asp missense AASS 1 81968 1.21999E-5 40984 0 6.25E-4
7-121738540-A-G p.Leu540Pro missense AASS 1 81996 1.21957E-5 40998 0 8.29077E-6
7-121738547-C-T p.Glu538Lys missense AASS 5 82066 6.09266E-5 41033 0 6.25E-4
7-121738574-C-G p.Val529Leu missense AASS 1 82236 1.21601E-5 41118 0 NA
7-121738582-A-G p.Ile526Thr missense AASS 2 82256 2.43143E-5 41128 0 8.45423E-6
7-121738593-C-T p.Lys522Lys synonymous AASS 1 82282 1.21533E-5 41141 0 NA
7-121738605-T-G p.Glu518Asp missense AASS 20 82304 2.43002E-4 41152 0 5.03525E-4
7-121738610-T-C p.Ile517Val missense AASS 1 82296 1.21513E-5 41148 0 4.01326E-6
7-121738614-A-G p.Asn515Asn synonymous AASS 1 82282 1.21533E-5 41141 0 NA
7-121738625-C-T p.Asp512Asn missense AASS 11 82282 1.33687E-4 41141 0 0.00151057
7-121738633-A-G c.1529-3T>C splice_region AASS 36 82248 4.37701E-4 41124 0 0.00191327
7-121738804-G-A p.Thr508Ile missense+splice_region AASS 1 82906 1.20619E-5 41453 0 4.0269E-5
7-121738811-C-T p.Glu506Lys missense AASS 1 82894 1.20636E-5 41447 0 NA
7-121738814-T-C p.Ile505Val missense AASS 1 82908 1.20616E-5 41454 0 1.6115E-5
7-121738830-T-C p.Leu499Leu synonymous AASS 15 82980 1.80766E-4 41490 0 0.00125
7-121738836-T-G p.Glu497Asp missense AASS 2 82998 2.4097E-5 41499 0 8.31449E-6
7-121738839-T-C p.Leu496Leu synonymous AASS 1 82972 1.20523E-5 41486 0 NA
7-121738844-C-A p.Val495Leu missense AASS 1 82972 1.20523E-5 41486 0 NA
7-121738854-T-C p.Ile491Met missense AASS 50 82922 6.02976E-4 41461 0 0.00100705
7-121738872-A-T p.Val485Val synonymous AASS 1 82726 1.20881E-5 41363 0 4.00307E-6
7-121738875-C-G p.Leu484Phe missense AASS 1 82680 1.20948E-5 41340 0 NA
7-121738877-A-T p.Leu484Met missense AASS 1 82680 1.20948E-5 41340 0 NA
7-121738880-C-T p.Val483Ile missense AASS 1 82614 1.21045E-5 41307 0 NA
7-121738880-C-G p.Val483Leu missense AASS 1 82614 1.21045E-5 41307 0 NA
7-121738890-G-A p.Thr479Thr synonymous AASS 3 82290 3.64564E-5 41145 0 4.04223E-5
7-121738893-G-A p.Gly478Gly synonymous AASS 1 82190 1.21669E-5 41095 0 6.25E-4
7-121738894-C-A p.Gly478Val missense AASS 1 82138 1.21746E-5 41069 0 NA
7-121738915-C-T p.Arg471His missense AASS 4 80748 4.95368E-5 40374 0 5.07674E-5
7-121738916-G-A p.Arg471Cys missense AASS 4 80470 4.9708E-5 40235 0 5.70055E-5
7-121738923-AT-A c.1407-4delA splice_region AASS 1 79092 1.26435E-5 39546 0 4.77628E-5
7-121738923-A-AT c.1407-4_1407-3insA splice_region AASS 1 79092 1.26435E-5 39546 0 1.88182E-4
7-121738926-T-TA c.1407-7_1407-6insT splice_region AASS 1960 73936 0.0265094 36968 280 0.262295
7-121738926-T-TAA c.1407-7_1407-6insTT splice_region AASS 342 76978 0.00444283 38489 45 0.00955155
7-121738926-T-A c.1407-6A>T splice_region AASS 3 77328 3.87958E-5 38664 0 NA
7-121738926-TAA-T c.1407-8_1407-7delTT splice_region AASS 418 77132 0.00541928 38566 0 0.0206771
7-121738926-T-TAAAAAAAAA c.1407-7_1407-6insTTTTTTTTT splice_region AASS 3 77402 3.87587E-5 38701 0 NA
7-121738926-T-TAAA c.1407-7_1407-6insTTT splice_region AASS 91 77292 0.00117735 38646 12 4.06449E-4
7-121738926-TA-T c.1407-7delT splice_region AASS 899 75984 0.0118314 37992 1 0.0615769
7-121738926-T-TAAAAAA c.1407-7_1407-6insTTTTTT splice_region AASS 11 77392 1.42134E-4 38696 0 NA
7-121738926-T-TAAAA c.1407-7_1407-6insTTTT splice_region AASS 19 77374 2.45561E-4 38687 1 NA
7-121738926-T-TAAAAA c.1407-7_1407-6insTTTTT splice_region AASS 14 77400 1.80879E-4 38700 1 NA
7-121738926-TAAAAAAAAAAAA-T c.1407-18_1407-7delTTTTTTTTTTTT splice_region AASS 14 77402 1.80874E-4 38701 0 0.00761191
7-121738926-TAAA-T c.1407-9_1407-7delTTT splice_region AASS 79 77360 0.0010212 38680 0 0.00329471
7-121738926-TAAAAAAAAA-T c.1407-15_1407-7delTTTTTTTTT splice_region AASS 2 77402 2.58391E-5 38701 0 NA
7-121738926-T-TAAAAAAA c.1407-7_1407-6insTTTTTTT splice_region AASS 11 77392 1.42134E-4 38696 0 NA
7-121738926-TAAAA-T c.1407-10_1407-7delTTTT splice_region AASS 7 77388 9.04533E-5 38694 0 NA
7-121738926-TAAAAAA-T c.1407-12_1407-7delTTTTTT splice_region AASS 1 77402 1.29196E-5 38701 0 NA
7-121738926-TAAAAA-T c.1407-11_1407-7delTTTTT splice_region AASS 1 77400 1.29199E-5 38700 0 NA
7-121738926-TAAAAAAA-T c.1407-13_1407-7delTTTTTTT splice_region AASS 1 77402 1.29196E-5 38701 0 NA
7-121738926-T-TAAAAAAAAAAA c.1407-7_1407-6insTTTTTTTTTTT splice_region AASS 3 77398 3.87607E-5 38699 0 NA
7-121738926-T-TAAAAAAAA c.1407-7_1407-6insTTTTTTTT splice_region AASS 7 77394 9.04463E-5 38697 0 NA
7-121738926-T-TAAAAAAAAAAAAAAAAAAAAAAA c.1407-7_1407-6insTTTTTTTTTTTTTTTTTTTTTTT splice_region AASS 1 77402 1.29196E-5 38701 0 NA
7-121738926-TAAAAAAAAAAAAAA-T c.1407-20_1407-7delTTTTTTTTTTTTTT splice_region AASS 2 77400 2.58398E-5 38700 0 NA
7-121741434-C-T p.Arg466Gln missense AASS 3 82410 3.64033E-5 41205 0 3.59428E-5
7-121741435-G-A p.Arg466Trp missense AASS 1 82408 1.21347E-5 41204 0 1.19829E-5
7-121741438-G-C p.Leu465Val missense AASS 2 82418 2.42665E-5 41209 0 1.59725E-5
7-121741469-T-C p.Thr454Thr synonymous AASS 1 82618 1.21039E-5 41309 0 2.23271E-4
7-121741475-G-A p.Asn452Asn synonymous AASS 2 82632 2.42037E-5 41316 0 3.19203E-5
7-121741477-T-C p.Asn452Asp missense AASS 1 82628 1.21024E-5 41314 0 8.27678E-6
7-121741486-T-G p.Ile449Leu missense AASS 2 82572 2.42213E-5 41286 0 0.0025
7-121741494-T-G c.1339-2A>C splice_acceptor AASS 1 82560 1.21124E-5 41280 0 NA
7-121741675-A-G p.Asp446Asp splice_region+synonymous AASS 1 82206 1.21646E-5 41103 0 NA
7-121741684-C-A p.Val443Val synonymous AASS 1 82198 1.21657E-5 41099 0 NA
7-121741686-C-T p.Val443Met missense AASS 1 82186 1.21675E-5 41093 0 1.68523E-5
7-121741720-C-T p.Ala431Ala synonymous AASS 381 82118 0.00463966 41059 4 0.00903115
7-121741721-G-A p.Ala431Val missense AASS 5 82124 6.08835E-5 41062 0 3.40177E-5
7-121741722-C-T p.Ala431Thr missense AASS 5 82118 6.0888E-5 41059 0 6.38081E-5
7-121741723-G-A p.Asp430Asp synonymous AASS 5 82114 6.0891E-5 41057 0 6.81547E-5
7-121753165-T-C c.1278+7A>G splice_region AASS 1 82900 1.20627E-5 41450 0 3.18329E-5
7-121753184-A-G p.Tyr422Tyr synonymous AASS 1 83026 1.20444E-5 41513 0 3.1839E-5
7-121753184-A-T p.Tyr422* stop_gained AASS 1 83026 1.20444E-5 41513 0 NA
7-121753193-A-C p.Leu419Leu synonymous AASS 2 83046 2.4083E-5 41523 0 NA
7-121753195-G-T p.Leu419Ile missense AASS 2 83050 2.40819E-5 41525 0 NA
7-121753211-T-C p.Glu413Glu synonymous AASS 1 83062 1.20392E-5 41531 0 NA
7-121753224-A-G p.Ile409Thr missense AASS 5 83062 6.0196E-5 41531 0 6.36862E-5
7-121753224-A-T p.Ile409Asn missense AASS 1 83062 1.20392E-5 41531 0 NA
7-121753225-T-C p.Ile409Val missense AASS 3 83060 3.61185E-5 41530 0 3.98038E-5
7-121753235-T-C p.Ala405Ala synonymous AASS 1 83050 1.20409E-5 41525 0 NA
7-121753238-C-T p.Pro404Pro synonymous AASS 5 83052 6.02032E-5 41526 0 0.00125
7-121753238-C-A p.Pro404Pro synonymous AASS 1 83052 1.20406E-5 41526 0 NA
7-121753239-G-A p.Pro404Leu missense AASS 5 83056 6.02003E-5 41528 0 3.30006E-5
7-121753270-C-CATTATAGGT p.Ser393_Gly394insThrTyrAsn conservative_inframe_insertion AASS 1 82944 1.20563E-5 41472 0 NA
7-121753271-C-G p.Ser393Ser synonymous AASS 5 82932 6.02904E-5 41466 0 1.99162E-5
7-121753271-C-CTTTTATTAA p.Ser393_Gly394insTerTerLys stop_gained AASS 1 82930 1.20584E-5 41465 0 NA
7-121753271-C-T p.Ser393Ser synonymous AASS 11 82932 1.32639E-4 41466 0 3.8236E-4
7-121753275-C-G p.Gly392Ala missense AASS 1 82914 1.20607E-5 41457 0 NA
7-121753275-C-T p.Gly392Asp missense AASS 1 82914 1.20607E-5 41457 0 1.19499E-5
7-121753280-A-T p.Val390Val synonymous AASS 1 82862 1.20683E-5 41431 0 8.32529E-6
7-121753669-C-T p.Gln383Gln synonymous AASS 1 82492 1.21224E-5 41246 0 NA
7-121753689-A-G p.Cys377Arg missense AASS 1 82542 1.2115E-5 41271 0 NA
7-121753711-A-G p.Cys369Cys synonymous AASS 329 82546 0.00398566 41273 4 0.00755287
7-121753747-A-C p.Ala357Ala synonymous AASS 5 82576 6.05503E-5 41288 0 NA
7-121753770-C-T p.Val350Met missense AASS 1 82510 1.21197E-5 41255 0 2.99846E-4
7-121755136-T-C p.Leu345Leu synonymous AASS 6 83238 7.20825E-5 41619 0 9.56145E-5
7-121755144-G-C p.Pro343Ala missense AASS 1 83276 1.20083E-5 41638 0 8.23954E-6
7-121755149-C-A p.Gly341Val missense AASS 1 83282 1.20074E-5 41641 0 NA
7-121755155-A-G p.Val339Ala missense AASS 2 83298 2.40102E-5 41649 0 3.97864E-6
7-121755157-AC-A p.Gly338fs frameshift AASS 1 83302 1.20045E-5 41651 0 NA
7-121755159-C-T p.Gly338Ser missense AASS 1 83308 1.20036E-5 41654 0 3.18532E-5
7-121755159-C-G p.Gly338Arg missense AASS 1 83308 1.20036E-5 41654 0 NA
7-121755178-C-T p.Pro331Pro synonymous AASS 5 83312 6.00154E-5 41656 1 1.2364E-4
7-121755179-G-A p.Pro331Leu missense AASS 4 83314 4.80111E-5 41657 0 9.56145E-4
7-121755187-G-A p.Leu328Leu synonymous AASS 1 83324 1.20013E-5 41662 0 4.94438E-5
7-121755190-ACT-A p.Leu328fs frameshift AASS 1 83330 1.20005E-5 41665 0 NA
7-121755205-G-C p.Arg322Arg synonymous AASS 1 83352 1.19973E-5 41676 0 3.97924E-6
7-121755217-G-C p.Arg318Arg synonymous AASS 2 83368 2.399E-5 41684 0 8.24131E-6
7-121755219-G-A p.Arg318Cys missense AASS 1 83372 1.19944E-5 41686 0 1.19363E-5
7-121755226-G-A p.Asn315Asn synonymous AASS 80 83382 9.5944E-4 41691 0 0.00352467
7-121755232-T-C p.Glu313Glu synonymous AASS 1 83390 1.19918E-5 41695 0 NA
7-121755242-A-G p.Ile310Thr missense AASS 1 83392 1.19916E-5 41696 0 NA
7-121755266-T-TA p.Tyr302fs frameshift AASS 1 83360 1.19962E-5 41680 0 NA
7-121755270-G-T p.Pro301Thr missense AASS 1 83358 1.19964E-5 41679 0 NA
7-121755271-T-C p.Ala300Ala synonymous AASS 3 83354 3.59911E-5 41677 0 1.64848E-5
7-121756684-C-A c.894+3G>T splice_region AASS 2 82534 2.42324E-5 41267 0 7.96502E-6
7-121756694-T-G p.Asn296Thr missense AASS 1 82652 1.20989E-5 41326 0 NA
7-121756696-A-G p.Phe295Phe synonymous AASS 4 82670 4.83851E-5 41335 0 8.24661E-6
7-121756700-C-T p.Arg294His missense AASS 5 82696 6.04624E-5 41348 0 2.4739E-5
7-121756703-C-T p.Ser293Asn missense AASS 1 82746 1.20852E-5 41373 0 3.98181E-6
7-121756707-T-C p.Ile292Val missense AASS 1 82780 1.20802E-5 41390 0 1.19451E-5
7-121756713-G-A p.Arg290Cys missense AASS 6 82778 7.2483E-5 41389 0 5.03525E-4
7-121756747-C-T p.Val278Val synonymous AASS 2 82866 2.41354E-5 41433 0 1.19455E-5
7-121756749-C-T p.Val278Met missense AASS 1 82856 1.20691E-5 41428 0 NA
7-121756751-G-T p.Ala277Asp missense AASS 1 82842 1.20712E-5 41421 0 3.98238E-6
7-121756773-G-T p.His270Asn missense AASS 2 82802 2.4154E-5 41401 0 NA
7-121756792-C-T p.Thr263Thr synonymous AASS 3 82764 3.62476E-5 41382 0 6.36983E-5
7-121756793-G-A p.Thr263Met missense AASS 1 82764 1.20825E-5 41382 0 2.47488E-5
7-121756797-C-T p.Gly262Arg missense AASS 2 82774 2.41622E-5 41387 0 NA
7-121756799-T-C p.Tyr261Cys missense AASS 1 82766 1.20823E-5 41383 0 8.25137E-6
7-121756818-G-T c.767-4C>A splice_region AASS 13 82812 1.56982E-4 41406 2 3.18532E-5
7-121756821-A-T c.767-7T>A splice_region AASS 1 82826 1.20735E-5 41413 0 NA
7-121756943-G-T p.Ser252Ser synonymous AASS 1 83068 1.20383E-5 41534 0 NA
7-121756948-C-A p.Val251Phe missense AASS 1 83078 1.20369E-5 41539 0 NA
7-121756962-T-C p.His246Arg missense AASS 1 83076 1.20372E-5 41538 0 1.66096E-5
7-121756988-C-T p.Glu237Glu synonymous AASS 4 83060 4.8158E-5 41530 0 1.59266E-4
7-121756992-T-C p.Asn236Ser missense AASS 1 83054 1.20404E-5 41527 0 3.98832E-6
7-121757019-T-C c.688-8A>G splice_region AASS 1 82926 1.20589E-5 41463 0 NA
7-121758371-T-C p.Asn226Ser missense AASS 1 83242 1.20132E-5 41621 0 NA
7-121758401-G-T p.Pro216His missense AASS 2 83226 2.4031E-5 41613 0 3.97871E-6
7-121758429-A-G p.Leu207Leu synonymous AASS 1 83202 1.20189E-5 41601 0 NA
7-121758435-T-A p.Ile205Leu missense AASS 55 83188 6.61153E-4 41594 0 0.00121004
7-121758435-T-C p.Ile205Val missense AASS 1 83188 1.2021E-5 41594 0 NA
7-121758440-T-C p.Tyr203Cys missense AASS 2 83170 2.40471E-5 41585 0 6.36821E-5
7-121758452-C-T p.Arg199His missense AASS 1 83104 1.20331E-5 41552 0 6.3678E-5
7-121758453-G-A p.Arg199Cys missense AASS 1 83096 1.20343E-5 41548 0 6.25E-4
7-121758460-T-C p.Gln196Gln synonymous AASS 1 83096 1.20343E-5 41548 0 NA
7-121758471-G-A p.Gln193* stop_gained AASS 1 83056 1.20401E-5 41528 0 3.9813E-6
7-121758494-G-T p.Ala185Asp missense AASS 1 82990 1.20496E-5 41495 0 NA
7-121758496-C-T p.Met184Ile missense AASS 1 82984 1.20505E-5 41492 0 NA
7-121758497-ATGCC-A p.Gly183fs frameshift AASS 1 82994 1.20491E-5 41497 0 NA
7-121758497-A-AAATATG p.Met184delinsThrTyrLeu conservative_inframe_insertion AASS 1 82994 1.20491E-5 41497 0 NA
7-121758506-T-G p.His181Pro missense+splice_region AASS 3 82970 3.61576E-5 41485 0 NA
7-121758507-G-GTGTATGT c.541-1_541insACATACA splice_acceptor AASS 1 82962 1.20537E-5 41481 0 NA
7-121758609-T-A c.540+8A>T splice_region AASS 1 82860 1.20685E-5 41430 0 NA
7-121758618-A-T p.Met180Lys missense+splice_region AASS 1 82910 1.20613E-5 41455 0 NA
7-121758632-A-G p.His175His synonymous AASS 6 82988 7.22996E-5 41494 0 6.36821E-5
7-121758634-G-A p.His175Tyr missense AASS 4 82980 4.82044E-5 41490 0 5.04032E-4
7-121758650-C-T p.Arg169Arg synonymous AASS 1 82974 1.2052E-5 41487 0 NA
7-121758657-C-A p.Gly167Val missense AASS 1 82950 1.20555E-5 41475 0 NA
7-121758658-C-A p.Gly167Cys missense AASS 1 82938 1.20572E-5 41469 0 8.30951E-6
7-121758685-C-T c.473-1G>A splice_acceptor AASS 2 82690 2.41867E-5 41345 0 8.56032E-6
7-121766422-T-C c.472+7A>G splice_region AASS 3 83318 3.60066E-5 41659 0 6.59283E-5
7-121766423-A-G c.472+6T>C splice_region AASS 1 83310 1.20034E-5 41655 0 NA
7-121766441-C-G p.Ala154Pro missense AASS 1 83308 1.20036E-5 41654 0 NA
7-121766441-C-T p.Ala154Thr missense AASS 1 83308 1.20036E-5 41654 0 6.36821E-5
7-121766454-T-C p.Ala149Ala synonymous AASS 1 83314 1.20028E-5 41657 0 NA
7-121766465-G-A p.Arg146Trp missense AASS 1 83304 1.20042E-5 41652 0 8.2371E-6
7-121766475-A-G p.His142His synonymous AASS 1 83290 1.20062E-5 41645 0 2.47109E-5
7-121766482-A-G p.Val140Ala missense AASS 1 83266 1.20097E-5 41633 0 NA
7-121766483-C-T p.Val140Met missense AASS 1 83256 1.20111E-5 41628 0 1.55215E-4
7-121766490-C-T p.Glu137Glu synonymous AASS 1 83256 1.20111E-5 41628 0 NA
7-121766494-T-C p.Tyr136Cys missense AASS 1 83240 1.20135E-5 41620 0 NA
7-121766506-C-T p.Arg132His missense AASS 2 83158 2.40506E-5 41579 0 5.76977E-5
7-121766507-G-A p.Arg132Cys missense AASS 11 83160 1.32275E-4 41580 0 5.77091E-5
7-121769435-A-G p.Leu123Leu synonymous AASS 1 82814 1.20753E-5 41407 0 3.99626E-6
7-121769443-A-G p.Met120Thr missense AASS 1 82928 1.20587E-5 41464 0 NA
7-121769443-A-T p.Met120Lys missense AASS 1 82928 1.20587E-5 41464 0 1.19626E-5
7-121769451-C-T p.Glu117Glu synonymous AASS 1 82990 1.20496E-5 41495 0 6.37796E-5
7-121769459-C-A p.Ala115Ser missense AASS 2 83022 2.409E-5 41511 0 8.29091E-6
7-121769466-T-C p.Thr112Thr synonymous AASS 2 83028 2.40883E-5 41514 0 NA
7-121769467-G-T p.Thr112Lys missense AASS 1 83030 1.20438E-5 41515 0 3.9827E-6
7-121769467-GT-TC p.Thr112Glu missense AASS 1 83030 1.20438E-5 41515 0 NA
7-121769479-A-G p.Phe108Ser missense AASS 4 83020 4.81812E-5 41510 0 6.37186E-5
7-121769481-T-C p.Ala107Ala synonymous AASS 1 83030 1.20438E-5 41515 0 NA
7-121769484-A-G p.Tyr106Tyr synonymous AASS 6 83022 7.227E-5 41511 0 2.86624E-4
7-121769499-C-T p.Met101Ile missense AASS 1 82966 1.20531E-5 41483 0 NA
7-121769510-C-T p.Glu98Lys missense AASS 3 82970 3.61576E-5 41485 0 6.38203E-5
7-121769519-G-T p.Pro95Thr missense AASS 4 82952 4.82207E-5 41476 0 4.13462E-5
7-121769558-C-G p.Asp82His missense AASS 1 82844 1.20709E-5 41422 0 NA
7-121769575-C-T p.Gly76Asp missense AASS 1 82758 1.20834E-5 41379 0 NA
7-121769583-G-A p.Val73Val synonymous AASS 1 82676 1.20954E-5 41338 0 NA
7-121769591-C-T p.Asp71Asn missense+splice_region AASS 1 82604 1.2106E-5 41302 0 NA
7-121769599-T-G c.211-8A>C splice_region AASS 1 82532 1.21165E-5 41266 0 NA
7-121773571-C-T p.Lys70Lys splice_region+synonymous AASS 13 83242 1.56171E-4 41621 0 5.03525E-4
7-121773590-C-T p.Arg64Gln missense AASS 1 83278 1.2008E-5 41639 0 8.24484E-6
7-121773591-G-A p.Arg64Trp missense AASS 3 83284 3.60213E-5 41642 0 6.36983E-5
7-121773595-C-T p.Ser62Ser synonymous AASS 1 83294 1.20057E-5 41647 0 1.64856E-5
7-121773608-A-C p.Leu58Trp missense AASS 2 83308 2.40073E-5 41654 0 3.97744E-6
7-121773613-C-T p.Lys56Lys synonymous AASS 16 83316 1.9204E-4 41658 0 5.03525E-4
7-121773616-G-T p.Tyr55* stop_gained AASS 1 83312 1.20031E-5 41656 0 7.9545E-6
7-121773618-A-G p.Tyr55His missense AASS 2 83304 2.40085E-5 41652 0 NA
7-121773620-C-A p.Gly54Val missense AASS 1 83298 1.20051E-5 41649 0 NA
7-121773626-T-C p.Asn52Ser missense AASS 3 83296 3.60161E-5 41648 0 8.23845E-6
7-121773635-C-T p.Gly49Asp missense AASS 2 83314 2.40056E-5 41657 0 5.03525E-4
7-121773654-C-A p.Ala43Ser missense AASS 1 83314 1.20028E-5 41657 0 NA
7-121773658-C-T p.Pro41Pro synonymous AASS 10 83312 1.20031E-4 41656 0 2.06807E-4
7-121773666-T-C p.Arg39Gly missense AASS 1 83330 1.20005E-5 41665 0 NA
7-121773673-C-T p.Trp36* stop_gained AASS 1 83330 1.20005E-5 41665 0 3.97674E-6
7-121773678-C-T p.Ala35Thr missense AASS 1 83334 1.19999E-5 41667 0 NA
7-121773679-G-A p.Asn34Asn synonymous AASS 2 83330 2.4001E-5 41665 0 4.11848E-5
7-121773679-G-C p.Asn34Lys missense AASS 3 83330 3.60014E-5 41665 0 3.18532E-5
7-121773685-A-T p.Asp32Glu missense AASS 1 83342 1.19988E-5 41671 0 NA
7-121773687-C-T p.Asp32Asn missense AASS 2 83340 2.39981E-5 41670 0 3.18492E-5
7-121773696-G-A p.Arg29Trp missense AASS 2 83342 2.39975E-5 41671 0 1.64742E-5
7-121773699-C-T p.Val28Ile missense AASS 2 83342 2.39975E-5 41671 0 4.37452E-5
7-121773705-A-G p.Leu26Leu synonymous AASS 1 83326 1.20011E-5 41663 0 3.18634E-5
7-121773710-G-A p.Ala24Val missense AASS 3 83330 3.60014E-5 41665 0 3.18634E-5
7-121773711-C-T p.Ala24Thr missense AASS 2 83328 2.40015E-5 41664 0 2.47117E-5
7-121773720-G-A p.His21Tyr missense AASS 1 83320 1.20019E-5 41660 0 NA
7-121773726-C-T p.Gly19Ser missense AASS 3 83322 3.60049E-5 41661 0 NA
7-121773730-G-A p.Ser17Ser synonymous AASS 2 83320 2.40038E-5 41660 0 4.9434E-5
7-121773733-G-A p.Leu16Leu synonymous AASS 1 83304 1.20042E-5 41652 0 8.23954E-6
7-121773735-G-A p.Leu16Phe missense AASS 2 83294 2.40113E-5 41647 0 8.24063E-6
7-121773744-C-G p.Gly13Arg missense AASS 59 83256 7.08658E-4 41628 0 0.00172328
7-121773744-C-CCA p.Gly13fs frameshift AASS 1 83258 1.20109E-5 41629 0 8.24538E-6
7-121773748-C-A p.Arg11Ser missense AASS 1 83236 1.2014E-5 41618 0 6.25E-4
7-121773753-CCA-ACC p.LeuGly9ArgCys missense AASS 1 83224 1.20158E-5 41612 0 NA
7-121773763-C-T p.Arg6Arg synonymous AASS 1 83180 1.20221E-5 41590 0 1.23885E-4
7-121773763-C-G p.Arg6Ser missense AASS 1 83180 1.20221E-5 41590 0 7.9564E-6
7-121773767-T-C p.His5Arg missense AASS 1 83162 1.20247E-5 41581 0 NA
7-121773778-C-T p.Met1? start_lost AASS 1 83060 1.20395E-5 41530 0 3.18573E-5