Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
17-35306218-C-T c.-208C>T 5_prime_UTR_premature_start_codon_gain AATF 149 27730 0.00537324 13865 0 0.00226201
17-35306226-G-A c.-200G>A 5_prime_UTR_premature_start_codon_gain AATF 1 30700 3.25733E-5 15350 0 3.18593E-5
17-35306284-G-A c.-142G>A 5_prime_UTR_premature_start_codon_gain AATF 2 54978 3.63782E-5 27489 0 1.59276E-4
17-35306284-G-C c.-142G>C 5_prime_UTR_premature_start_codon_gain AATF 1 54978 1.81891E-5 27489 0 NA
17-35306307-C-A c.-119C>A 5_prime_UTR_premature_start_codon_gain AATF 3 65414 4.58617E-5 32707 0 NA
17-35306307-C-G c.-119C>G 5_prime_UTR_premature_start_codon_gain AATF 2 65414 3.05745E-5 32707 0 3.18593E-5
17-35306312-G-T c.-114G>T 5_prime_UTR_premature_start_codon_gain AATF 647 66284 0.00976103 33142 4 0.0245132
17-35306346-G-T c.-80G>T 5_prime_UTR_premature_start_codon_gain AATF 1 74732 1.33811E-5 37366 0 NA
17-35306411-C-T c.-15C>T 5_prime_UTR_premature_start_codon_gain AATF 7 77950 8.98012E-5 38975 0 2.8677E-4
17-35306419-G-T c.-7G>T 5_prime_UTR_premature_start_codon_gain AATF 1 78064 1.281E-5 39032 0 3.92711E-5
17-35306434-G-C p.Gly3Gly synonymous AATF 7 78012 8.97298E-5 39006 0 4.23012E-4
17-35306443-C-T p.Pro6Pro synonymous AATF 2 78122 2.5601E-5 39061 0 3.21048E-5
17-35306444-C-T p.Leu7Leu synonymous AATF 2 78132 2.55977E-5 39066 0 5.07542E-6
17-35306450-C-G p.Leu9Val missense AATF 9 78150 1.15163E-4 39075 0 5.92839E-4
17-35306456-C-T p.Leu11Leu synonymous AATF 15 78226 1.91752E-4 39113 0 5.41815E-4
17-35306463-A-G p.Gln13Arg missense AATF 1 78248 1.27799E-5 39124 0 NA
17-35306476-G-A p.Pro17Pro synonymous AATF 1 78222 1.27841E-5 39111 0 NA
17-35306483-A-T p.Ser20Cys missense AATF 2 78276 2.55506E-5 39138 0 4.73714E-6
17-35306491-G-A p.Ala22Ala synonymous AATF 1 78172 1.27923E-5 39086 0 NA
17-35306497-T-TGAAGCGGACCCC p.Glu29_Glu30insAlaAspProGlu disruptive_inframe_insertion AATF 3 78228 3.83494E-5 39114 0 4.798E-5
17-35306513-G-A p.Glu30Lys missense AATF 8 78020 1.02538E-4 39010 0 0.00204082
17-35307507-C-A c.92-7C>A splice_region AATF 1 83312 1.20031E-5 41656 0 NA
17-35307509-G-A c.92-5G>A splice_region AATF 1 83300 1.20048E-5 41650 0 1.19717E-5
17-35307516-A-G p.Thr32Ala missense+splice_region AATF 2 83332 2.40004E-5 41666 0 NA
17-35307519-G-A p.Ala33Thr missense AATF 1 83354 1.1997E-5 41677 0 3.98276E-6
17-35307525-A-T p.Arg35Trp missense AATF 1 83356 1.19967E-5 41678 0 NA
17-35307531-A-T p.Ile37Phe missense AATF 1 83370 1.19947E-5 41685 0 1.5911E-5
17-35307541-T-C p.Phe40Ser missense AATF 1 83388 1.19921E-5 41694 0 8.23845E-6
17-35307548-A-G p.Glu42Glu synonymous AATF 1 83392 1.19916E-5 41696 0 1.97697E-4
17-35307556-A-T p.Asp45Val missense AATF 1 83396 1.1991E-5 41698 0 NA
17-35307585-A-G p.Ser55Gly missense AATF 1 83404 1.19898E-5 41702 0 NA
17-35307600-GC-G p.Ala60fs frameshift AATF 3 83402 3.59704E-5 41701 0 1.64739E-5
17-35307600-G-A p.Ala60Thr missense AATF 1 83402 1.19901E-5 41701 0 7.95248E-6
17-35307616-T-G p.Leu65Trp missense AATF 6 83388 7.19528E-5 41694 0 2.54858E-4
17-35307621-A-G p.Thr67Ala missense AATF 2 83394 2.39825E-5 41697 0 4.94275E-5
17-35307626-C-T p.Asp68Asp synonymous AATF 17 83394 2.03852E-4 41697 0 6.05173E-4
17-35307630-A-C p.Arg70Arg synonymous AATF 2 83394 2.39825E-5 41697 0 5.16931E-5
17-35307635-T-C p.Tyr71Tyr synonymous AATF 3 83394 3.59738E-5 41697 0 NA
17-35307639-G-A p.Gly73Ser missense AATF 1 83382 1.1993E-5 41691 0 NA
17-35307650-C-T p.Thr76Thr synonymous AATF 2 83384 2.39854E-5 41692 0 NA
17-35307668-T-C p.Asn82Asn synonymous AATF 8 83378 9.59486E-5 41689 0 0.00100705
17-35307672-G-A p.Asp84Asn missense AATF 65 83374 7.7962E-4 41687 0 0.00252016
17-35307685-A-G p.Gln88Arg missense AATF 1 83348 1.19979E-5 41674 0 NA
17-35310186-A-G p.Asp95Gly missense+splice_region AATF 17 83224 2.04268E-4 41612 0 6.37227E-4
17-35310195-T-C p.Ile98Thr missense AATF 440 83220 0.00528719 41610 8 0.0113702
17-35310196-A-G p.Ile98Met missense AATF 1 83232 1.20146E-5 41616 0 3.9902E-6
17-35310197-T-C p.Ser99Pro missense AATF 1 83240 1.20135E-5 41620 0 NA
17-35310206-G-A p.Glu102Lys missense AATF 1 83244 1.20129E-5 41622 0 3.18492E-5
17-35310221-G-T p.Glu107* stop_gained AATF 1 83272 1.20088E-5 41636 0 NA
17-35310234-G-A p.Gly111Glu missense AATF 84 83290 0.00100852 41645 0 7.96178E-4
17-35310238-G-A p.Leu112Leu synonymous AATF 1 83296 1.20054E-5 41648 0 NA
17-35310240-G-A p.Gly113Asp missense AATF 1 83292 1.2006E-5 41646 0 NA
17-35310262-C-T p.Asp120Asp synonymous AATF 4 83296 4.80215E-5 41648 0 4.11984E-5
17-35310263-G-A p.Asp121Asn missense AATF 6 83294 7.2034E-5 41647 0 1.27405E-4
17-35310263-G-T p.Asp121Tyr missense AATF 1 83294 1.20057E-5 41647 0 1.19332E-5
17-35310269-G-C p.Gly123Arg missense AATF 1 83320 1.20019E-5 41660 0 3.97735E-6
17-35310274-T-C p.Ala124Ala synonymous AATF 2 83312 2.40061E-5 41656 0 3.97735E-6
17-35310276-C-A p.Ala125Asp missense AATF 1 83308 1.20036E-5 41654 0 NA
17-35310290-T-A p.Cys130Ser missense AATF 8 83306 9.60315E-5 41653 0 0.00151057
17-35310322-A-G p.Arg140Arg synonymous AATF 4 83344 4.79939E-5 41672 0 1.91168E-4
17-35310324-G-A p.Ser141Asn missense AATF 2 83344 2.39969E-5 41672 0 NA
17-35310342-C-T p.Pro147Leu missense AATF 1 83358 1.19964E-5 41679 0 6.37227E-5
17-35310343-G-A p.Pro147Pro synonymous AATF 4 83360 4.79846E-5 41680 0 6.59185E-5
17-35310352-T-C p.Ser150Ser synonymous AATF 1 83368 1.1995E-5 41684 0 NA
17-35310372-T-C p.Phe157Ser missense AATF 2 83390 2.39837E-5 41695 0 3.19061E-5
17-35310372-TTG-T p.Phe157fs frameshift AATF 1 83390 1.19918E-5 41695 0 NA
17-35310373-T-C p.Phe157Phe synonymous AATF 2 83390 2.39837E-5 41695 0 4.1195E-5
17-35310385-C-T p.Thr161Thr synonymous AATF 1 83380 1.19933E-5 41690 0 8.23968E-6
17-35310387-A-C p.Lys162Thr missense AATF 2 83384 2.39854E-5 41692 0 1.64761E-5
17-35310390-G-A p.Gly163Glu missense AATF 1 83388 1.19921E-5 41694 0 2.38631E-5
17-35310390-G-T p.Gly163Val missense AATF 1 83388 1.19921E-5 41694 0 3.18552E-5
17-35310392-A-G p.Met164Val missense AATF 4 83386 4.79697E-5 41693 0 3.18532E-5
17-35310410-A-G p.Ser170Gly missense AATF 4 83388 4.79685E-5 41694 0 3.18573E-5
17-35310412-TGAG-T p.Glu174del disruptive_inframe_deletion AATF 2 83390 2.39837E-5 41695 0 NA
17-35310422-G-A p.Glu174Lys missense AATF 806 83386 0.00966589 41693 21 0.0132845
17-35310426-A-G p.Asp175Gly missense AATF 4 83390 4.79674E-5 41695 0 NA
17-35310427-C-T p.Asp175Asp synonymous AATF 1 83398 1.19907E-5 41699 0 3.18613E-5
17-35310428-G-A p.Glu176Lys missense AATF 6 83394 7.19476E-5 41697 0 0.00100705
17-35310435-G-A p.Ser178Asn missense AATF 12 83398 1.43888E-4 41699 0 1.59246E-4
17-35310440-A-G p.Met180Val missense AATF 1 83402 1.19901E-5 41701 0 1.59062E-5
17-35310446-G-A p.Glu182Lys missense AATF 1 83398 1.19907E-5 41699 0 0.003125
17-35310450-G-A p.Gly183Glu missense AATF 4 83404 4.79593E-5 41702 0 1.64742E-5
17-35310453-A-G p.Asp184Gly missense AATF 1 83402 1.19901E-5 41701 0 1.59066E-5
17-35310457-C-T p.Asp185Asp synonymous AATF 73 83406 8.75237E-4 41703 0 8.64966E-4
17-35310459-C-T p.Ala186Val missense AATF 3 83402 3.59704E-5 41701 0 8.74912E-5
17-35310459-C-G p.Ala186Gly missense AATF 2 83402 2.39802E-5 41701 0 NA
17-35310460-G-A p.Ala186Ala synonymous AATF 2 83404 2.39797E-5 41702 0 2.78359E-5
17-35310470-C-T p.Gln190* stop_gained AATF 2 83402 2.39802E-5 41701 0 3.29506E-5
17-35310475-C-T p.Gly191Gly synonymous AATF 5 83406 5.99477E-5 41703 0 6.37836E-5
17-35310475-C-A p.Gly191Gly synonymous AATF 1 83406 1.19895E-5 41703 0 3.29511E-5
17-35310476-G-A p.Glu192Lys missense AATF 1 83406 1.19895E-5 41703 0 8.23683E-6
17-35310488-G-T p.Asp196Tyr missense AATF 1 83412 1.19887E-5 41706 0 NA
17-35310494-G-C p.Ala198Pro missense AATF 3 83414 3.59652E-5 41707 0 NA
17-35310497-G-A p.Gly199Arg missense AATF 2 83410 2.39779E-5 41705 0 NA
17-35310500-G-A p.Asp200Asn missense AATF 1 83410 1.1989E-5 41705 0 1.19291E-5
17-35310510-G-T p.Ser203Ile missense AATF 2 83410 2.39779E-5 41705 0 NA
17-35310522-G-A p.Gly207Asp missense AATF 1 83418 1.19878E-5 41709 0 NA
17-35310549-A-G p.Lys216Arg missense AATF 4 83402 4.79605E-5 41701 0 3.18674E-5
17-35310562-A-G p.Glu220Glu synonymous AATF 1 83402 1.19901E-5 41701 0 1.31911E-4
17-35310580-C-T p.Ala226Ala synonymous AATF 7 83384 8.3949E-5 41692 0 5.03525E-4
17-35310592-G-A p.Gln230Gln synonymous AATF 1 83366 1.19953E-5 41683 0 6.36902E-5
17-35311075-TG-T p.Asp235fs frameshift AATF 2 83358 2.39929E-5 41679 0 3.303E-5
17-35311092-A-T p.Glu239Asp missense AATF 1 83376 1.19939E-5 41688 0 3.97943E-6
17-35311101-C-G p.Ser49* stop_gained AATF 2 83384 2.39854E-5 41692 0 NA
17-35311103-A-G p.Lys243Arg missense AATF 4 83384 4.79708E-5 41692 0 0.00100705
17-35311114-G-T p.Ala247Ser missense AATF 112 83378 0.00134328 41689 0 0.00398241
17-35311120-T-C p.Leu249Leu synonymous AATF 1 83392 1.19916E-5 41696 0 1.98828E-5
17-35311130-A-G p.Asn252Ser missense AATF 5 83388 5.99607E-5 41694 0 NA
17-35311133-A-G p.Gln253Arg missense AATF 1 83384 1.19927E-5 41692 0 NA
17-35311146-A-G p.Pro257Pro synonymous AATF 2 83384 2.39854E-5 41692 0 3.18634E-5
17-35311148-A-T p.Asp258Val missense AATF 2 83378 2.39871E-5 41689 0 NA
17-35311159-T-C p.Leu262Leu synonymous AATF 3 83380 3.59799E-5 41690 0 3.97662E-6
17-35311164-C-G p.Phe263Leu missense AATF 5 83372 5.99722E-5 41686 0 0.0020141
17-35311166-A-G p.Lys264Arg missense AATF 1 83368 1.1995E-5 41684 0 3.97716E-6
17-35311175-G-A p.Gly267Asp missense AATF 2 83354 2.3994E-5 41677 0 NA
17-35311181-C-T p.Pro269Leu missense AATF 1 83352 1.19973E-5 41676 0 3.18715E-5
17-35311194-T-G p.Ser273Arg missense AATF 1 83322 1.20016E-5 41661 0 NA
17-35311195-G-A p.Ala274Thr missense AATF 1 83314 1.20028E-5 41657 0 NA
17-35311195-GC-G p.Leu275fs frameshift AATF 1 83314 1.20028E-5 41657 0 1.59721E-5
17-35311211-A-G c.832+4A>G splice_region AATF 1 83268 1.20094E-5 41634 0 NA
17-35311214-A-C c.832+7A>C splice_region AATF 12 83266 1.44116E-4 41633 0 1.27462E-4
17-35311214-A-AT c.832+7_832+8insT splice_region AATF 1 83266 1.20097E-5 41633 0 NA
17-35343913-C-T c.833-3C>T splice_region AATF 6 83196 7.21189E-5 41598 0 2.22504E-4
17-35343918-C-T p.His279Tyr missense+splice_region AATF 1 83232 1.20146E-5 41616 0 3.97801E-6
17-35343929-T-C p.Leu282Leu synonymous AATF 2 83284 2.40142E-5 41642 0 1.59089E-5
17-35343944-G-A p.Arg287Arg synonymous AATF 2 83294 2.40113E-5 41647 0 NA
17-35343954-G-A p.Gly291Ser missense AATF 1 83312 1.20031E-5 41656 0 8.23696E-6
17-35343955-G-A p.Gly291Asp missense AATF 2 83310 2.40067E-5 41655 0 8.74891E-5
17-35344003-T-G p.Val307Gly missense AATF 2 83252 2.40234E-5 41626 0 2.47145E-5
17-35344006-A-G p.Asp308Gly missense AATF 87 83252 0.00104502 41626 0 0.00229212
17-35344024-C-T p.Ala314Val missense AATF 2 83160 2.405E-5 41580 0 1.56657E-4
17-35344026-G-C p.Gly315Arg missense AATF 1 83158 1.20253E-5 41579 0 NA
17-35344030-GGTA-G c.947+1_947+3delGTA splice_donor AATF 4 83124 4.81209E-5 41562 2 NA
17-35345824-G-C p.Glu318Asp missense AATF 2 83146 2.40541E-5 41573 0 NA
17-35345841-A-G p.Asp324Gly missense AATF 1 83236 1.2014E-5 41618 0 NA
17-35345842-T-C p.Asp324Asp synonymous AATF 1 83238 1.20137E-5 41619 0 1.67535E-5
17-35345846-C-T p.Leu326Leu synonymous AATF 50 83238 6.00687E-4 41619 0 0.0014333
17-35345852-G-A p.Glu328Lys missense AATF 1 83250 1.2012E-5 41625 0 8.32653E-6
17-35345861-A-C p.Lys331Gln missense AATF 12 83252 1.44141E-4 41626 0 1.07825E-4
17-35345870-C-T p.Arg334* stop_gained AATF 51 83254 6.12583E-4 41627 0 2.18843E-4
17-35345871-G-A p.Arg334Gln missense AATF 19 83246 2.28239E-4 41623 0 2.23477E-4
17-35345876-AG-A p.Val337fs frameshift AATF 3 83242 3.60395E-5 41621 0 NA
17-35345878-G-C p.Arg336Ser missense AATF 1 83232 1.20146E-5 41616 0 2.48045E-5
17-35345883-C-G p.Pro338Arg missense AATF 1 83228 1.20152E-5 41614 0 NA
17-35345886-C-G p.Ala339Gly missense AATF 1 83222 1.20161E-5 41611 0 NA
17-35345898-T-C p.Leu343Pro missense AATF 1 83204 1.20187E-5 41602 0 NA
17-35345903-A-T p.Met345Leu missense AATF 4 83198 4.80781E-5 41599 0 3.97924E-6
17-35345913-A-C p.Tyr348Ser missense AATF 1 83186 1.20213E-5 41593 0 NA
17-35345913-A-G p.Tyr348Cys missense AATF 1 83186 1.20213E-5 41593 0 6.60077E-5
17-35345929-A-G p.Ala353Ala synonymous AATF 2 83122 2.4061E-5 41561 0 NA
17-35345933-C-T p.Arg355Cys missense AATF 1 83100 1.20337E-5 41550 0 0.00125
17-35345940-C-A p.Ala357Asp missense AATF 2 83068 2.40767E-5 41534 0 NA
17-35345942-G-A p.Asp358Asn missense AATF 3 83084 3.6108E-5 41542 0 1.19405E-5
17-35345946-T-G p.Phe359Cys missense AATF 1 83100 1.20337E-5 41550 0 8.24633E-5
17-35345955-A-G p.Tyr362Cys missense AATF 1 83074 1.20375E-5 41537 0 3.98004E-6
17-35345962-C-T p.Asn364Asn synonymous AATF 3 83046 3.61246E-5 41523 0 3.18403E-5
17-35345963-C-T p.Arg365Cys missense AATF 11 83048 1.32454E-4 41524 0 6.43352E-4
17-35345964-G-A p.Arg365His missense AATF 2 83020 2.40906E-5 41510 0 4.1246E-5
17-35345966-A-G p.Thr366Ala missense AATF 1 83024 1.20447E-5 41512 0 3.98016E-6
17-35345967-C-T p.Thr366Ile missense AATF 1 83004 1.20476E-5 41502 0 3.18613E-5
17-35345972-C-G p.Gln368Glu missense AATF 6 82958 7.23258E-5 41479 0 8.35947E-5
17-35345974-G-C p.Gln368His missense AATF 3 82930 3.61751E-5 41465 0 NA
17-35345980-G-A p.Trp370* stop_gained AATF 3 82894 3.61908E-5 41447 0 3.18552E-5
17-35345983-C-A p.His371Gln missense AATF 34 82860 4.10331E-4 41430 0 0.00625782
17-35345996-C-G p.Leu376Val missense AATF 2 82742 2.41715E-5 41371 0 1.27356E-4
17-35346017-A-G p.Lys383Glu missense+splice_region AATF 3 82364 3.64237E-5 41182 0 6.36862E-5
17-35346022-A-G c.1149+3A>G splice_region AATF 1 82254 1.21575E-5 41127 0 NA
17-35346024-G-A c.1149+5G>A splice_region AATF 2 82186 2.4335E-5 41093 0 NA
17-35346538-T-C c.1150-8T>C splice_region AATF 1 82850 1.207E-5 41425 0 4.16216E-5
17-35346540-T-C c.1150-6T>C splice_region AATF 1 82838 1.20718E-5 41419 0 1.20161E-5
17-35346546-G-A p.Gly384Ser missense+splice_region AATF 1 82886 1.20648E-5 41443 0 NA
17-35346569-A-G p.Ser391Ser synonymous AATF 2 82918 2.41202E-5 41459 0 7.57485E-5
17-35346586-A-G p.Asp397Gly missense AATF 2 82938 2.41144E-5 41469 0 7.96147E-6
17-35346591-A-G p.Ile399Val missense AATF 12 82944 1.44676E-4 41472 0 2.86624E-4
17-35346604-AAGAG-A p.Glu404fs frameshift AATF 1 82932 1.20581E-5 41466 0 NA
17-35346618-C-T p.Arg408* stop_gained AATF 2 82926 2.41179E-5 41463 0 2.38817E-5
17-35346619-G-A p.Arg408Gln missense AATF 4 82936 4.823E-5 41468 0 3.58235E-5
17-35346631-C-G p.Thr412Ser missense AATF 2 82914 2.41214E-5 41457 0 1.59217E-5
17-35346636-C-T p.Arg414Cys missense AATF 1 82904 1.20621E-5 41452 0 NA
17-35346640-C-A p.Ser415Tyr missense AATF 1 82926 1.20589E-5 41463 0 NA
17-35346641-T-C p.Ser415Ser synonymous AATF 23168 82444 0.281015 41222 3631 0.3625
17-35346646-A-G p.Tyr417Cys missense AATF 1 82946 1.2056E-5 41473 0 3.18431E-5
17-35346649-G-A p.Arg418Gln missense AATF 3 82950 3.61664E-5 41475 0 1.59226E-5
17-35346649-G-C p.Arg418Pro missense AATF 3 82950 3.61664E-5 41475 0 1.59256E-4
17-35346673-C-G p.Ala426Gly missense AATF 1 82924 1.20592E-5 41462 0 NA
17-35346700-C-G p.Pro435Arg missense AATF 1 82878 1.20659E-5 41439 0 3.19964E-5
17-35346702-G-A p.Gly436Arg missense AATF 2 82856 2.41383E-5 41428 0 8.30496E-6
17-35346707-ACC-A p.Pro438fs frameshift AATF 1 82836 1.2072E-5 41418 0 1.20245E-5
17-35346710-G-A p.Pro438Pro splice_region+synonymous AATF 1 82764 1.20825E-5 41382 0 5.03525E-4
17-35346711-G-GAGA c.1314+1_1314+2insAGA splice_donor AATF 2 82772 2.41628E-5 41386 1 NA
17-35346712-T-G c.1314+2T>G splice_donor AATF 8 82750 9.66767E-5 41375 0 3.33556E-5
17-35348085-C-T p.Gln443* stop_gained AATF 1 82766 1.20823E-5 41383 0 NA
17-35348098-A-T p.Asn447Ile missense AATF 1 82864 1.2068E-5 41432 0 NA
17-35348102-T-C p.Ala448Ala synonymous AATF 1 82854 1.20694E-5 41427 0 1.64739E-5
17-35348104-A-G p.His449Arg missense AATF 2 82870 2.41342E-5 41435 0 NA
17-35348117-G-C p.Leu453Phe missense AATF 1 82864 1.2068E-5 41432 0 NA
17-35348119-A-G p.Asp454Gly missense AATF 2 82876 2.41324E-5 41438 0 8.2371E-6
17-35348155-A-G p.Gln466Arg missense+splice_region AATF 1 82630 1.21021E-5 41315 0 8.24063E-6
17-35348156-G-GCTCCTTCGAGAACTCATAGAACGGAAGACCAGCTCCTTGGATCCCAACGATCA c.1398_1398+1insCTCCTTCGAGAACTCATAGAACGGAAGACCAGCTCCTTGGATCCCAACGATCA splice_donor AATF 2 82616 2.42084E-5 41308 1 NA
17-35376291-C-CT c.1399-8dupT splice_region AATF 1 83218 1.20166E-5 41609 0 8.23927E-6
17-35376303-G-A c.1399-1G>A splice_acceptor AATF 9 83248 1.08111E-4 41624 0 6.76289E-5
17-35376306-C-G p.Leu467Leu splice_region+synonymous AATF 1 83276 1.20083E-5 41638 0 3.18756E-5
17-35376310-C-T p.Arg469* stop_gained AATF 1 83282 1.20074E-5 41641 0 NA
17-35376311-G-A p.Arg469Gln missense AATF 2 83282 2.40148E-5 41641 0 6.37024E-5
17-35376321-A-G p.Ile472Met missense AATF 3 83298 3.60153E-5 41649 0 7.9538E-6
17-35376325-C-T p.Arg474Trp missense AATF 2 83308 2.40073E-5 41654 0 3.18492E-5
17-35376338-C-T p.Ser478Phe missense AATF 1 83316 1.20025E-5 41658 0 8.2371E-6
17-35376343-G-A p.Asp480Asn missense AATF 2 83322 2.40033E-5 41661 0 8.23696E-6
17-35376346-C-G p.Pro481Ala missense AATF 2 83322 2.40033E-5 41661 0 NA
17-35376351-C-T p.Asn482Asn synonymous AATF 1481 83286 0.0177821 41643 66 0.0295261
17-35376353-A-G p.Asp483Gly missense AATF 2 83310 2.40067E-5 41655 0 3.1835E-5
17-35376355-C-G p.Gln484Glu missense AATF 1 83312 1.20031E-5 41656 0 NA
17-35376358-G-A p.Val485Met missense AATF 1 83306 1.20039E-5 41653 0 NA
17-35376369-A-G p.Gly488Gly splice_region+synonymous AATF 3 83258 3.60326E-5 41629 0 1.23573E-4
17-35376371-G-GGCA c.1466_1466+1insGCA splice_donor AATF 7 83254 8.408E-5 41627 3 NA
17-35376372-G-A c.1466+1G>A splice_donor AATF 3 83252 3.60352E-5 41626 0 9.55231E-5
17-35378224-AT-A c.1467-8delT splice_region AATF 54 83074 6.50023E-4 41537 0 0.00149615
17-35378228-T-C c.1467-5T>C splice_region AATF 1 83126 1.20299E-5 41563 0 NA
17-35378245-A-G p.Ala493Ala synonymous AATF 7 83192 8.41427E-5 41596 0 5.03525E-4
17-35378259-G-A p.Arg498Gln missense AATF 2 83206 2.40367E-5 41603 0 8.04499E-6
17-35378260-A-T p.Arg498Arg synonymous AATF 10 83222 1.20161E-4 41611 0 4.41615E-5
17-35378261-A-G p.Ser499Gly missense AATF 5 83222 6.00803E-5 41611 0 3.1837E-5
17-35378265-A-G p.Lys500Arg missense AATF 1 83224 1.20158E-5 41612 0 NA
17-35378273-A-C p.Lys503Gln missense AATF 1 83222 1.20161E-5 41611 0 NA
17-35378278-A-G p.Lys504Lys synonymous AATF 2 83226 2.4031E-5 41613 0 NA
17-35378279-G-A p.Val505Ile missense AATF 2 83224 2.40315E-5 41612 0 3.18431E-5
17-35378284-T-C p.Asp506Asp synonymous AATF 1 83214 1.20172E-5 41607 0 3.58102E-5
17-35378292-C-A p.Ala509Asp missense AATF 41 83202 4.92777E-4 41601 0 0.00130557
17-35378301-G-A p.Gly512Asp missense AATF 1 83148 1.20267E-5 41574 0 NA
17-35378305-G-A p.Arg513Arg synonymous AATF 1 83142 1.20276E-5 41571 0 NA
17-35378312-C-T p.Arg516Trp missense+splice_region AATF 9 83084 1.08324E-4 41542 0 9.55657E-5
17-35378451-G-C c.*134G>C splice_region AATF 2 64640 3.09406E-5 32320 0 NA
17-35388909-A-C c.1548-2A>C splice_acceptor AATF 2 82976 2.41034E-5 41488 0 NA
17-35388929-G-C p.Lys522Asn missense AATF 1 83078 1.20369E-5 41539 0 NA
17-35388929-G-T p.Lys522Asn missense AATF 2 83078 2.40738E-5 41539 0 7.41314E-5
17-35388938-T-G p.Ser525Arg missense AATF 1 83084 1.2036E-5 41542 0 NA
17-35388956-C-T p.Asp531Asp synonymous AATF 1 83108 1.20325E-5 41554 0 NA
17-35388960-A-G p.Thr533Ala missense AATF 1 83084 1.2036E-5 41542 0 NA
17-35388961-C-T p.Thr533Ile missense AATF 3 83096 3.61028E-5 41548 0 9.5511E-5
17-35388963-A-G p.Thr534Ala missense AATF 2 83068 2.40767E-5 41534 0 3.18431E-5
17-35388976-A-G p.Asp538Gly missense AATF 1 83044 1.20418E-5 41522 0 7.95494E-6
17-35413901-G-T p.Arg540Ser missense+splice_region AATF 2 83332 2.40004E-5 41666 0 NA
17-35413904-A-G p.Thr541Thr synonymous AATF 2 83340 2.39981E-5 41670 0 5.03525E-4
17-35413906-A-G p.Glu542Gly missense AATF 1 83332 1.20002E-5 41666 0 7.95963E-6
17-35413913-C-T p.Tyr544Tyr synonymous AATF 2 83350 2.39952E-5 41675 0 1.91107E-4
17-35413914-C-T p.Arg545Cys missense AATF 4 83340 4.79962E-5 41670 0 3.18471E-5
17-35413915-G-A p.Arg545His missense AATF 9 83344 1.07986E-4 41672 0 0.00100705
17-35413918-C-G p.Ser546Cys missense AATF 1 83352 1.19973E-5 41676 0 3.18451E-5
17-35413932-C-T p.Leu551Phe missense AATF 2 83336 2.39992E-5 41668 0 3.97795E-6
17-35413937-C-T p.His552His synonymous AATF 3 83322 3.60049E-5 41661 0 3.97769E-6
17-35413938-C-T p.Pro553Ser missense AATF 1 83330 1.20005E-5 41665 0 2.38648E-5
17-35413939-C-A p.Pro553His missense AATF 1 83326 1.20011E-5 41663 0 4.37522E-5
17-35413942-C-T p.Pro554Leu missense AATF 1 83302 1.20045E-5 41651 0 NA
17-35413943-C-T p.Pro554Pro synonymous AATF 1 83300 1.20048E-5 41650 0 3.18552E-5
17-35413944-G-A p.Asp555Asn missense AATF 19 83300 2.28091E-4 41650 0 9.2392E-4
17-35413946-C-A p.Asp555Glu missense AATF 1 83292 1.2006E-5 41646 0 8.24117E-6
17-35413946-C-T p.Asp555Asp synonymous AATF 1 83292 1.2006E-5 41646 0 3.18471E-5
17-35413947-G-C p.Glu556Gln missense AATF 2 83288 2.40131E-5 41644 0 NA
17-35413947-G-A p.Glu556Lys missense AATF 3 83288 3.60196E-5 41644 0 8.24131E-6
17-35413950-G-A p.Gly557Ser missense AATF 1 83284 1.20071E-5 41642 0 3.97738E-6
17-35413955-C-T p.His558His synonymous AATF 12 83264 1.4412E-4 41632 0 0.0025
17-35413956-G-A p.Gly559Arg missense AATF 1 83252 1.20117E-5 41626 0 3.97776E-6
17-35414167-C-T n.374C>T splice_region AATF 3 36296 8.26537E-5 18148 0 9.55597E-5