Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
17-41102564-T-C c.*46A>G splice_region AARSD1 1 81128 1.23262E-5 40564 0 4.47652E-6
17-41102610-T-A p.Ter413Cysext*? stop_lost AARSD1 1 82312 1.21489E-5 41156 0 4.03962E-6
17-41102628-C-T p.Thr407Thr synonymous AARSD1 2 82550 2.42277E-5 41275 0 9.56099E-5
17-41102628-C-A p.Thr407Thr synonymous AARSD1 3 82550 3.63416E-5 41275 0 8.25546E-6
17-41102629-G-A p.Thr407Met missense AARSD1 3 82576 3.63302E-5 41288 0 5.03525E-4
17-41102630-T-C p.Thr407Ala missense AARSD1 1 82596 1.21071E-5 41298 0 1.65063E-5
17-41102638-T-A p.Tyr404Phe missense AARSD1 3 82656 3.6295E-5 41328 1 NA
17-41102652-C-G p.Ala399Ala synonymous AARSD1 1 82700 1.20919E-5 41350 0 1.19422E-5
17-41102652-C-T p.Ala399Ala synonymous AARSD1 18 82700 2.17654E-4 41350 2 5.04032E-4
17-41102653-G-A p.Ala399Val missense AARSD1 3 82724 3.62652E-5 41362 0 3.19101E-5
17-41102658-C-T p.Ala397Ala synonymous AARSD1 1 82720 1.2089E-5 41360 0 1.19433E-5
17-41102659-G-A p.Ala397Val missense AARSD1 1 82732 1.20872E-5 41366 0 5.04032E-4
17-41102666-T-G p.Met395Leu missense AARSD1 3 82790 3.62363E-5 41395 0 8.24402E-6
17-41102668-C-T p.Arg394Gln missense AARSD1 2 82782 2.41598E-5 41391 0 8.24429E-6
17-41102669-G-T p.Arg394Arg synonymous AARSD1 1 82778 1.20805E-5 41389 0 3.98061E-6
17-41102669-G-A p.Arg394Trp missense AARSD1 1 82778 1.20805E-5 41389 0 8.24443E-6
17-41102671-C-T p.Arg393Gln missense AARSD1 1 82782 1.20799E-5 41391 0 4.12228E-5
17-41102672-G-A p.Arg393Trp missense AARSD1 2 82804 2.41534E-5 41402 0 8.24552E-5
17-41102676-C-T p.Met391Ile missense AARSD1 1 82866 1.20677E-5 41433 0 NA
17-41102689-T-A p.Lys387Met missense AARSD1 2 82852 2.41394E-5 41426 0 2.47419E-5
17-41102697-A-G p.Phe384Phe synonymous AARSD1 1 82810 1.20758E-5 41405 0 3.9795E-6
17-41102701-C-T p.Arg383His missense AARSD1 9 82808 1.08685E-4 41404 0 5.57192E-5
17-41102702-G-T p.Arg383Ser missense AARSD1 1 82816 1.2075E-5 41408 0 NA
17-41102725-C-T p.Gly375Asp missense AARSD1 1 82680 1.20948E-5 41340 0 NA
17-41102730-C-T p.Leu373Leu synonymous AARSD1 1 82636 1.21013E-5 41318 0 9.5706E-5
17-41102739-A-G p.Ala370Ala synonymous AARSD1 1 82516 1.21189E-5 41258 0 NA
17-41102742-C-T p.Val369Val synonymous AARSD1 1 82460 1.21271E-5 41230 0 NA
17-41102746-C-A c.1104-1G>T splice_acceptor AARSD1 9 82388 1.09239E-4 41194 0 2.87338E-4
17-41102751-G-A c.1104-6C>T splice_region AARSD1 1 82314 1.21486E-5 41157 0 NA
17-41102752-AAC-A c.1104-9_1104-8delGT splice_region AARSD1 1 82310 1.21492E-5 41155 0 NA
17-41103811-A-G c.1103+6T>C splice_region AARSD1 2 83020 2.40906E-5 41510 0 NA
17-41103815-A-G c.1103+2T>C splice_donor AARSD1 1 83030 1.20438E-5 41515 0 NA
17-41103817-C-A n.429+1G>T splice_donor AARSD1 1 83080 1.20366E-5 41540 0 NA
17-41103836-C-G p.Val362Leu missense AARSD1 2 83162 2.40494E-5 41581 0 NA
17-41103839-A-G p.Ser361Pro missense AARSD1 10 83178 1.20224E-4 41589 0 2.86661E-4
17-41103840-C-T p.Ala360Ala synonymous AARSD1 3 83178 3.60672E-5 41589 0 6.37105E-5
17-41103842-C-T p.Ala360Thr missense AARSD1 2 83190 2.40414E-5 41595 0 3.58032E-5
17-41103845-G-A p.Pro359Ser missense AARSD1 1 83198 1.20195E-5 41599 0 3.18512E-5
17-41103846-T-G p.Pro358Pro synonymous AARSD1 1 83186 1.20213E-5 41593 0 8.26323E-6
17-41103853-GC-TT p.Ala356Lys missense AARSD1 1 83224 1.20158E-5 41612 0 NA
17-41103871-C-G p.Gly350Ala missense AARSD1 26 83240 3.1235E-4 41620 0 2.66499E-4
17-41103871-C-A p.Gly350Val missense AARSD1 7 83240 8.40942E-5 41620 0 3.18613E-4
17-41103874-C-A p.Gly349Val missense AARSD1 1 83240 1.20135E-5 41620 0 1.64976E-5
17-41103884-C-G p.Asp346His missense AARSD1 2 83202 2.40379E-5 41601 0 1.64976E-5
17-41103884-C-T p.Asp346Asn missense AARSD1 2 83202 2.40379E-5 41601 0 3.29951E-5
17-41103885-G-A p.Gly345Gly synonymous AARSD1 6 83198 7.21171E-5 41599 0 5.03525E-4
17-41103896-A-C p.Leu342Val missense AARSD1 2 83170 2.40471E-5 41585 0 3.29973E-5
17-41103913-TAGGA-T c.1009-6_1009-3delTCCT splice_region AARSD1 1 83022 1.2045E-5 41511 0 NA
17-41103917-AG-A c.1009-7delC splice_region AARSD1 1 82970 1.20525E-5 41485 0 1.07443E-4
17-41105734-C-T c.1008+7G>A splice_region AARSD1 1 83158 1.20253E-5 41579 0 3.97636E-6
17-41105736-C-T c.1008+5G>A splice_region AARSD1 6 83166 7.21449E-5 41583 0 1.59226E-4
17-41105741-C-G p.Glu336Asp missense+splice_region AARSD1 6 83184 7.21293E-5 41592 0 1.56497E-4
17-41105741-C-T p.Glu336Glu splice_region+synonymous AARSD1 1 83184 1.20215E-5 41592 0 NA
17-41105745-G-C p.Ser335* stop_gained AARSD1 2 83184 2.40431E-5 41592 0 7.95267E-6
17-41105745-G-T p.Ser335* stop_gained AARSD1 1 83184 1.20215E-5 41592 0 NA
17-41105746-A-C p.Ser335Ala missense AARSD1 3 83178 3.60672E-5 41589 0 NA
17-41105753-C-A p.Glu332Asp missense AARSD1 3 83202 3.60568E-5 41601 0 3.18492E-5
17-41105777-C-G p.Glu324Asp missense AARSD1 7 83246 8.40881E-5 41623 0 0.00100705
17-41105777-C-T p.Glu324Glu synonymous AARSD1 2 83246 2.40252E-5 41623 0 NA
17-41105781-G-T p.Ser323* stop_gained AARSD1 1 83244 1.20129E-5 41622 0 NA
17-41105787-C-A p.Gly321Val missense AARSD1 5 83226 6.00774E-5 41613 0 4.37404E-5
17-41105794-T-A p.Lys319* stop_gained AARSD1 1 83208 1.20181E-5 41604 0 NA
17-41105801-A-G c.954-6T>C splice_region AARSD1 1 83158 1.20253E-5 41579 0 NA
17-41106905-A-G p.Val314Ala missense AARSD1 18 83320 2.16035E-4 41660 0 0.001875
17-41106913-T-C p.Gly311Gly synonymous AARSD1 1 83328 1.20008E-5 41664 0 NA
17-41106917-C-A p.Trp310Leu missense AARSD1 1 83334 1.19999E-5 41667 0 7.41339E-5
17-41106928-G-A p.Asn306Asn synonymous AARSD1 189 83332 0.00226804 41666 0 0.00242084
17-41106931-C-A p.Arg305Ser missense AARSD1 2 83348 2.39958E-5 41674 0 6.37064E-5
17-41106941-T-C p.His302Arg missense AARSD1 3 83356 3.59902E-5 41678 0 3.18492E-5
17-41106944-G-A p.Ala301Val missense AARSD1 1 83348 1.19979E-5 41674 0 8.23669E-6
17-41106948-T-TG p.Ile300fs frameshift AARSD1 1 83350 1.19976E-5 41675 0 NA
17-41106959-A-C p.Leu296Arg missense AARSD1 1 83342 1.19988E-5 41671 0 NA
17-41106960-G-C p.Leu296Val missense AARSD1 9 83338 1.07994E-4 41669 0 9.55414E-5
17-41106983-T-C p.Asn288Ser missense+splice_region AARSD1 41 83272 4.92362E-4 41636 0 8.9189E-4
17-41106986-T-TTCTGCAGGATCTTGGTGGAGTTCTGGA c.862-3_862-2insTCCAGAACTCCACCAAGATCCTGCAGA splice_region AARSD1 1 83232 1.20146E-5 41616 0 NA
17-41106989-A-G c.862-5T>C splice_region AARSD1 1 83212 1.20175E-5 41606 0 NA
17-41107178-C-G p.Gln286His missense AARSD1 1 83100 1.20337E-5 41550 0 NA
17-41107182-A-G p.Leu285Pro missense AARSD1 2 83100 2.40674E-5 41550 0 NA
17-41107200-T-C p.Gln279Arg missense AARSD1 1 83076 1.20372E-5 41538 0 NA
17-41107202-G-T p.Leu278Leu synonymous AARSD1 1 83082 1.20363E-5 41541 0 6.37146E-5
17-41107206-T-C p.Lys277Arg missense AARSD1 1 83052 1.20406E-5 41526 0 NA
17-41107223-A-G p.His271His synonymous AARSD1 3 82982 3.61524E-5 41491 0 3.18715E-5
17-41107223-A-T p.His271Gln missense AARSD1 1 82982 1.20508E-5 41491 0 NA
17-41107224-T-A p.His271Leu missense AARSD1 9 82964 1.08481E-4 41482 0 5.17104E-5
17-41107233-G-A p.Ala268Val missense AARSD1 2 82878 2.41319E-5 41439 0 NA
17-41107241-C-T p.Lys265Lys splice_region+synonymous AARSD1 2 82794 2.41563E-5 41397 0 3.18471E-4
17-41107242-C-G c.795-1G>C splice_acceptor AARSD1 2 82778 2.4161E-5 41389 0 NA
17-41107386-T-C n.468-2A>G splice_acceptor AARSD1 2 50774 3.93902E-5 25387 0 NA
17-41107388-G-A n.468-4C>T splice_region AARSD1 1 49978 2.00088E-5 24989 0 NA
17-41107450-GATCTTTTTT-G n.759_*5delAAAAAAGAT splice_region AARSD1 1 23736 4.21301E-5 11868 0 NA
17-41107453-CTTT-C n.762_*2delAAA splice_region AARSD1 47 22504 0.00208852 11252 0 NA
17-41107453-CTTTTTTTTT-C n.756_*2delAAAAAAAAA splice_region AARSD1 1 22586 4.42752E-5 11293 0 NA
17-41107453-CTTTT-C n.761_*2delAAAA splice_region AARSD1 15 22556 6.65012E-4 11278 0 NA
17-41107453-CTTTTT-C n.760_*2delAAAAA splice_region AARSD1 2 22574 8.85975E-5 11287 0 NA
17-41107453-CTTTTTT-C n.759_*2delAAAAAA splice_region AARSD1 2 22586 8.85504E-5 11293 0 NA
17-41107856-T-C c.794+3A>G splice_region AARSD1 1 83356 1.19967E-5 41678 0 NA
17-41107899-T-C p.Arg252Gly missense AARSD1 2 83380 2.39866E-5 41690 0 NA
17-41107920-G-A p.Arg140Trp missense+splice_region AARSD1 22 83386 2.63833E-4 41693 0 0.0020141
17-41107928-G-A p.Ser242Phe missense AARSD1 2 83386 2.39848E-5 41693 0 3.57864E-5
17-41107932-G-A p.Leu241Leu synonymous AARSD1 1 83388 1.19921E-5 41694 0 8.23642E-6
17-41107936-T-TATC p.Leu238_Ile239insMet disruptive_inframe_insertion AARSD1 1 83384 1.19927E-5 41692 0 NA
17-41107936-T-C p.Ile239Met missense AARSD1 1 83384 1.19927E-5 41692 0 7.95248E-6
17-41107942-G-A p.Asn237Asn synonymous AARSD1 1 83384 1.19927E-5 41692 0 NA
17-41107943-T-A p.Asn237Ile missense AARSD1 1 83380 1.19933E-5 41690 0 2.47093E-5
17-41107959-TC-T p.Lys233fs frameshift AARSD1 1 83384 1.19927E-5 41692 0 3.18593E-5
17-41107982-T-G p.Lys224Thr missense AARSD1 1 83362 1.19959E-5 41681 0 3.18573E-5
17-41107995-T-C c.664-6A>G splice_region AARSD1 2 83344 2.39969E-5 41672 0 NA
17-41108047-C-T n.926G>A splice_region AARSD1 3 83150 3.60794E-5 41575 0 9.56267E-5
17-41108232-T-G p.Ser218Arg missense AARSD1 1 83360 1.19962E-5 41680 0 NA
17-41108257-G-A p.Cys209Cys synonymous AARSD1 1 83374 1.19941E-5 41687 0 NA
17-41108260-CAT-C p.Met208fs frameshift AARSD1 1 83376 1.19939E-5 41688 0 NA
17-41108264-T-C p.Asn207Ser missense AARSD1 3 83372 3.59833E-5 41686 0 1.72993E-4
17-41108274-C-T p.Val204Ile missense AARSD1 2 83370 2.39894E-5 41685 0 9.06111E-5
17-41108281-G-A p.Ile201Ile synonymous AARSD1 2 83368 2.399E-5 41684 0 3.18552E-5
17-41108289-C-CAA p.Val199fs frameshift AARSD1 1 83368 1.1995E-5 41684 0 NA
17-41108292-C-T p.Val198Ile missense AARSD1 1 83368 1.1995E-5 41684 0 NA
17-41108294-C-T p.Arg197Gln missense AARSD1 2 83360 2.39923E-5 41680 0 6.37227E-5
17-41108295-G-A p.Arg197Trp missense AARSD1 1 83366 1.19953E-5 41683 0 6.25E-4
17-41108303-C-A p.Gly194Val missense AARSD1 1 83364 1.19956E-5 41682 0 8.23737E-6
17-41108310-GATC-G p.Asp191del conservative_inframe_deletion AARSD1 1 83354 1.1997E-5 41677 0 3.97652E-6
17-41108325-C-T p.Gly187Ser missense AARSD1 1 83344 1.19985E-5 41672 0 NA
17-41108327-C-T p.Arg186Gln missense AARSD1 2 83340 2.39981E-5 41670 0 6.59011E-5
17-41108335-CACCTGGACTCAAGGAGAGGGGAGGGACTGTCTGAATCTGATGAGGAATCATTCCGCAGAAACCATCCCTCTGGCTCTACCCTT-C p.Val183fs frameshift AARSD1 8 83330 9.60038E-5 41665 0 NA
17-41108338-C-T c.547-1G>A splice_acceptor AARSD1 1 83330 1.20005E-5 41665 0 8.23791E-6
17-41108413-AC-A c.237+1delG splice_donor AARSD1 128 83210 0.00153828 41605 3 0.0034463
17-41108414-C-T c.237+1G>A splice_donor AARSD1 1 83198 1.20195E-5 41599 0 NA
17-41108418-T-C c.546+3A>G splice_region AARSD1 2 83208 2.40361E-5 41604 0 NA
17-41108420-CCTG-C p.Gln182del conservative_inframe_deletion AARSD1 1 83230 1.20149E-5 41615 0 NA
17-41108430-C-A p.Glu179Asp missense AARSD1 1 83208 1.20181E-5 41604 0 NA
17-41108431-T-G p.Glu179Ala missense AARSD1 4 83208 4.80723E-5 41604 0 3.97924E-5
17-41108434-G-T p.Pro178His missense AARSD1 1 83212 1.20175E-5 41606 0 NA
17-41108438-C-T p.Asp177Asn missense AARSD1 100 83206 0.00120184 41603 2 0.00299592
17-41108441-C-A p.Asp176Tyr missense AARSD1 8 83210 9.61423E-5 41605 0 3.58129E-5
17-41108454-T-G p.Arg171Arg synonymous AARSD1 466 83170 0.00560298 41585 2 0.0122115
17-41108455-C-T p.Arg171Gln missense AARSD1 2 83180 2.40442E-5 41590 0 8.24715E-6
17-41108474-G-A p.Arg165Trp missense AARSD1 6 83036 7.22578E-5 41518 0 4.12657E-5
17-41108481-G-A p.Ile162Ile synonymous AARSD1 1 82996 1.20488E-5 41498 0 NA
17-41108482-A-AT p.Ile162fs frameshift AARSD1 2 82972 2.41045E-5 41486 0 5.03525E-4
17-41108483-T-C p.Ile162Val missense AARSD1 5 82986 6.02511E-5 41493 0 7.63991E-4
17-41108491-T-C p.Asn159Ser missense AARSD1 4 82866 4.82707E-5 41433 1 0.00100705
17-41108495-C-T p.Val158Ile missense AARSD1 1 82776 1.20808E-5 41388 0 3.18494E-5
17-41108496-G-A p.Ser157Ser synonymous AARSD1 3 82716 3.62687E-5 41358 0 3.19468E-5
17-41108502-C-T p.Glu155Glu synonymous AARSD1 1 82520 1.21183E-5 41260 0 3.18918E-5
17-41108507-T-C p.Ile154Val missense AARSD1 1 82418 1.21333E-5 41209 0 1.65546E-5
17-41108512-G-A p.Ala152Val missense AARSD1 1 82150 1.21729E-5 41075 0 NA
17-41108513-C-T p.Ala152Thr missense AARSD1 1 82106 1.21794E-5 41053 0 NA
17-41108522-C-T n.388-1G>A splice_acceptor AARSD1 1 81624 1.22513E-5 40812 0 1.65939E-5
17-41108526-A-G n.388-5T>C splice_region AARSD1 1 81358 1.22914E-5 40679 0 NA
17-41108531-T-C p.Met146Val missense AARSD1 6 80912 7.41546E-5 40456 0 1.99622E-5
17-41108535-G-A p.Pro144Pro synonymous AARSD1 1 80410 1.24363E-5 40205 0 8.32085E-6
17-41108536-G-C p.Pro144Arg missense AARSD1 1 80276 1.2457E-5 40138 0 NA
17-41108547-C-T p.Glu140Glu synonymous AARSD1 1 79160 1.26326E-5 39580 0 4.01445E-6
17-41108550-A-G p.Ile139Ile synonymous AARSD1 3 78856 3.8044E-5 39428 0 NA
17-41108553-C-A p.Ala138Ala synonymous AARSD1 5 78462 6.37251E-5 39231 0 4.02262E-5
17-41108553-C-T p.Ala138Ala synonymous AARSD1 1 78462 1.2745E-5 39231 0 3.37382E-5
17-41108554-G-A p.Ala138Val missense AARSD1 1 78128 1.27995E-5 39064 0 1.20769E-5
17-41108560-C-T p.Arg136Gln missense AARSD1 4 77176 5.18296E-5 38588 0 2.54673E-4
17-41108561-G-A p.Arg136Trp missense AARSD1 1 77076 1.29742E-5 38538 0 5.03525E-4
17-41108572-A-G p.Leu132Ser missense AARSD1 2 75234 2.65837E-5 37617 0 NA
17-41108573-A-G p.Leu132Leu synonymous AARSD1 1 74908 1.33497E-5 37454 0 NA
17-41108574-C-T p.Glu131Glu synonymous AARSD1 6 74812 8.0201E-5 37406 0 6.25E-4
17-41109157-T-C p.Ser129Ser splice_region+synonymous AARSD1 2 82658 2.41961E-5 41329 0 1.59174E-5
17-41109172-C-T p.Lys124Lys synonymous AARSD1 2 82816 2.41499E-5 41408 0 3.97871E-6
17-41109180-G-T p.Leu122Ile missense AARSD1 1 82852 1.20697E-5 41426 0 4.13182E-5
17-41109182-T-C p.His121Arg missense AARSD1 1 82848 1.20703E-5 41424 0 NA
17-41109190-A-C p.Val118Val synonymous AARSD1 4 82850 4.828E-5 41425 0 1.40473E-4
17-41109196-C-T p.Thr116Thr synonymous AARSD1 1 82840 1.20715E-5 41420 0 8.26446E-6
17-41109197-G-A p.Thr116Met missense AARSD1 3 82860 3.62056E-5 41430 0 3.19346E-5
17-41109198-T-C p.Thr116Ala missense AARSD1 5 82836 6.03602E-5 41418 0 1.91681E-4
17-41109199-G-A p.Ile115Ile synonymous AARSD1 1 82844 1.20709E-5 41422 0 NA
17-41109211-C-A p.Gly111Gly splice_region+synonymous AARSD1 2 82782 2.41598E-5 41391 0 9.57426E-5
17-41109215-A-G n.330-3T>C splice_region AARSD1 1 82748 1.20849E-5 41374 0 NA
17-41113220-T-C p.Gln107Arg missense AARSD1 1 83378 1.19936E-5 41689 0 NA
17-41113223-A-T p.Met1? start_lost AARSD1 2 83376 2.39877E-5 41688 0 2.47288E-5
17-41113223-A-C p.Met1? start_lost AARSD1 1 83376 1.19939E-5 41688 0 NA
17-41113236-T-C p.Arg102Gly missense AARSD1 2 83394 2.39825E-5 41697 0 3.18492E-5
17-41113238-C-T p.Arg101Gln missense AARSD1 2 83394 2.39825E-5 41697 0 3.18451E-5
17-41113243-C-T p.Trp99* stop_gained AARSD1 4 83400 4.79616E-5 41700 0 3.58252E-5
17-41113246-A-G c.-22T>C 5_prime_UTR_premature_start_codon_gain AARSD1 8 83404 9.59187E-5 41702 1 5.03525E-4
17-41113251-C-A p.Val97Leu missense AARSD1 6 83404 7.1939E-5 41702 0 9.55475E-5
17-41113253-C-T p.Arg96Gln missense AARSD1 1 83408 1.19893E-5 41704 0 1.91058E-4
17-41113256-A-G p.Val95Ala missense AARSD1 3 83404 3.59695E-5 41702 0 7.55744E-5
17-41113263-C-A p.Val93Phe missense AARSD1 2 83410 2.39779E-5 41705 0 6.25E-4
17-41113268-C-T p.Ser91Asn missense AARSD1 1 83406 1.19895E-5 41703 0 NA
17-41113272-C-T p.Gly90Arg missense AARSD1 1 83408 1.19893E-5 41704 0 3.97725E-6
17-41113284-G-T p.Pro86Thr missense AARSD1 1 83408 1.19893E-5 41704 0 NA
17-41113288-C-G p.Gln84His missense AARSD1 1 83408 1.19893E-5 41704 0 5.76568E-5
17-41113291-G-C p.Thr83Thr synonymous AARSD1 1 83408 1.19893E-5 41704 0 NA
17-41113319-C-T p.Arg74His missense AARSD1 14 83396 1.67874E-4 41698 0 8.59763E-4
17-41113319-C-CGAGTCACTCTCAGCACA p.Arg74fs frameshift AARSD1 3 83396 3.59729E-5 41698 0 6.36862E-5
17-41113320-G-A p.Arg74Cys missense AARSD1 2 83400 2.39808E-5 41700 0 5.03525E-4
17-41113342-G-A p.Asp66Asp synonymous AARSD1 2 83392 2.39831E-5 41696 0 3.18431E-5
17-41113347-T-C p.Asn65Asp missense AARSD1 1 83386 1.19924E-5 41693 0 NA
17-41113350-T-C p.Ile64Val missense AARSD1 1 83390 1.19918E-5 41695 0 3.58027E-5
17-41113358-C-T p.Arg61His missense AARSD1 1 83378 1.19936E-5 41689 0 1.59165E-5
17-41113359-G-A p.Arg61Cys missense AARSD1 26 83372 3.11855E-4 41686 0 0.00117059
17-41113365-C-T p.Asp59Asn missense AARSD1 3 83354 3.59911E-5 41677 0 7.16321E-5
17-41113365-C-G p.Ter99Serext*? stop_lost AARSD1 1 83354 1.1997E-5 41677 0 1.59226E-4
17-41113371-G-GTCCCCC n.170-4_170-3insGGGGGA splice_region AARSD1 1 83322 1.20016E-5 41661 0 NA
17-41113374-G-A n.170-6C>T splice_region AARSD1 2 83300 2.40096E-5 41650 0 3.98134E-6
17-41114201-T-C p.Ter79Trpext*? stop_lost AARSD1 1 3620 2.76243E-4 1810 0 5.62335E-5
17-41114212-G-A p.Ser91Phe missense AARSD1 1 3664 2.72926E-4 1832 0 9.60307E-5
17-41114274-G-A p.Arg55Cys missense AARSD1 1 2962 3.3761E-4 1481 0 2.77162E-4
17-41114291-T-TG p.Arg65fs frameshift AARSD1 1 2530 3.95257E-4 1265 0 NA
17-41114295-A-G c.148-6T>C splice_region AARSD1 1 2610 3.83142E-4 1305 0 NA
17-41114315-CA-C c.172-4delT splice_region AARSD1 113 1126 0.100355 563 27 0.919764
17-41114315-CAA-C c.172-5_172-4delTT splice_region AARSD1 71 1420 0.05 710 1 0.254438
17-41114315-CAAA-C c.172-6_172-4delTTT splice_region AARSD1 11 1472 0.00747283 736 0 0.056213
17-41114315-CAAAA-C c.172-7_172-4delTTTT splice_region AARSD1 1 1480 6.75676E-4 740 0 0.0295858
17-41114315-CAAAAA-C c.172-8_172-4delTTTTT splice_region AARSD1 1 1486 6.72947E-4 743 0 0.0118343
17-41114315-C-CA c.172-4_172-3insT splice_region AARSD1 2 1486 0.00134589 743 0 NA
17-41114315-C-CAA c.172-4_172-3insTT splice_region AARSD1 1 1486 6.72947E-4 743 0 NA
17-41116127-C-T p.Gly56Glu missense AARSD1 69 83300 8.28331E-4 41650 0 8.91833E-4
17-41116134-C-T p.Gly54Ser missense AARSD1 1 83308 1.20036E-5 41654 0 3.97735E-6
17-41116138-A-C p.Pro52Pro synonymous AARSD1 1 83318 1.20022E-5 41659 0 NA
17-41116153-GTC-G p.Asp47fs frameshift AARSD1 1 83350 1.19976E-5 41675 0 NA
17-41116157-T-C p.Glu46Gly missense AARSD1 1 83354 1.1997E-5 41677 0 8.24443E-6
17-41116168-T-C p.Gln42Gln synonymous AARSD1 3 83346 3.59945E-5 41673 0 5.03525E-4
17-41116170-G-A p.Gln42* stop_gained AARSD1 60 83344 7.19908E-4 41672 0 0.0012738
17-41116176-C-A p.Gly40Cys missense AARSD1 6 83334 7.19994E-5 41667 0 3.97662E-5
17-41116176-C-T p.Gly40Ser missense AARSD1 1 83334 1.19999E-5 41667 0 1.64823E-5
17-41116177-G-C p.Ser39Arg missense AARSD1 9 83336 1.07997E-4 41668 0 3.18512E-5
17-41116177-G-A p.Ser39Ser synonymous AARSD1 1 83336 1.19996E-5 41668 0 2.38593E-5
17-41116196-C-T p.Gly33Asp missense AARSD1 1 83326 1.20011E-5 41663 0 8.23927E-6
17-41116223-GC-AG p.Ala24Leu missense AARSD1 11 83204 1.32205E-4 41602 0 NA
17-41116223-G-A p.Ala24Val missense AARSD1 11 83204 1.32205E-4 41602 0 1.98872E-4
17-41116224-C-G p.Ala24Pro missense AARSD1 11 83188 1.32231E-4 41594 0 1.98867E-4
17-41116226-G-A p.Pro23Leu missense AARSD1 1 83186 1.20213E-5 41593 0 NA
17-41116229-C-T p.Cys22Tyr missense AARSD1 1 83174 1.2023E-5 41587 0 7.95596E-6
17-41116230-A-G p.Cys22Arg missense AARSD1 1 83162 1.20247E-5 41581 0 NA
17-41116234-G-A c.-256C>T 5_prime_UTR_premature_start_codon_gain AARSD1 76011 78370 0.969899 39185 37028 0.998125
17-41116243-G-A c.-265C>T 5_prime_UTR_premature_start_codon_gain AARSD1 1 83024 1.20447E-5 41512 0 3.9789E-6
17-41116251-T-C p.Thr15Ala missense AARSD1 2 82856 2.41383E-5 41428 0 1.48346E-4
17-41116254-A-ACTCTCGGGCATAACTGTCACGCTGACACCAGAACGCCATAC n.38-1_38insGTATGGCGTTCTGGTGTCAGCGTGACAGTTATGCCCGAGAG splice_acceptor AARSD1 2 82792 2.41569E-5 41396 1 NA
17-41116254-A-G p.Phe14Leu missense+splice_region AARSD1 1 82792 1.20785E-5 41396 0 NA
17-41116257-G-A n.38-3C>T splice_region AARSD1 1 82678 1.20951E-5 41339 0 NA
17-41116257-G-C n.38-3C>G splice_region AARSD1 3 82678 3.62853E-5 41339 0 3.25351E-5
17-41116260-CAG-C n.38-8_38-7delCT splice_region AARSD1 1 82592 1.21077E-5 41296 0 NA
17-41116261-A-G n.38-7T>C splice_region AARSD1 4 82592 4.84308E-5 41296 0 3.28515E-5
17-41116413-C-A c.39+6G>T splice_region AARSD1 1 79198 1.26266E-5 39599 0 9.55231E-5
17-41116418-C-A c.39+1G>T splice_donor AARSD1 5 79192 6.31377E-5 39596 0 1.81928E-4
17-41116420-T-A p.Glu13Val missense+splice_region AARSD1 1 79174 1.26304E-5 39587 0 3.18552E-5
17-41116425-G-T p.Ala11Ala synonymous AARSD1 3 79044 3.79535E-5 39522 0 1.99336E-5
17-41116429-T-C p.Tyr10Cys missense AARSD1 2 79020 2.531E-5 39510 0 3.1841E-5
17-41116429-TAA-T p.Ser9fs frameshift AARSD1 1 79020 1.2655E-5 39510 0 NA
17-41116431-A-C p.Ser9Arg missense AARSD1 1 78982 1.26611E-5 39491 0 6.65868E-6
17-41116439-G-A p.Arg7Cys missense AARSD1 2 78646 2.54304E-5 39323 0 9.55231E-5
17-41116448-A-C p.Trp4Gly missense AARSD1 1 78350 1.27632E-5 39175 0 NA
17-41116452-C-A n.37+8G>T splice_region AARSD1 2 78204 2.55741E-5 39102 0 NA
17-41116459-C-T n.37+1G>A splice_donor AARSD1 1 77750 1.28617E-5 38875 0 6.73773E-6
17-41116462-G-A n.35C>T splice_region AARSD1 1 77514 1.29009E-5 38757 0 NA
17-41116465-G-A c.-8C>T 5_prime_UTR_premature_start_codon_gain AARSD1 2 77386 2.58445E-5 38693 0 NA
17-41116483-C-A c.-26G>T 5_prime_UTR_premature_start_codon_gain AARSD1 1 76548 1.30637E-5 38274 0 NA
17-41116504-G-A c.-321C>T 5_prime_UTR_premature_start_codon_gain AARSD1 16 75976 2.10593E-4 37988 0 6.73854E-4
17-41116509-G-C c.-326C>G 5_prime_UTR_premature_start_codon_gain AARSD1 7 75820 9.23239E-5 37910 0 1.59205E-4