Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
1-36348831-C-G c.-192C>G 5_prime_UTR_premature_start_codon_gain AGO1 2 54514 3.66878E-5 27257 0 NA
1-36348879-G-T c.-144G>T 5_prime_UTR_premature_start_codon_gain AGO1 1 69406 1.4408E-5 34703 0 NA
1-36348929-C-T c.-94C>T 5_prime_UTR_premature_start_codon_gain AGO1 8 76624 1.04406E-4 38312 0 NA
1-36349007-C-T c.-16C>T 5_prime_UTR_premature_start_codon_gain AGO1 25 80122 3.12024E-4 40061 0 6.05674E-4
1-36349040-G-C p.Ser6Ser synonymous AGO1 2 79544 2.51433E-5 39772 0 4.96234E-6
1-36349047-G-GCT c.25_25+1insCT splice_donor AGO1 5 79382 6.29866E-5 39691 2 NA
1-36349047-G-GCTGCGGGCGCTTACCTGCCCCCCCTGCAGCAGGTGTTCCAGGCACCTCGCC c.25_25+1insCTGCGGGCGCTTACCTGCCCCCCCTGCAGCAGGTGTTCCAGGCACCTCGCC splice_donor AGO1 1 79384 1.2597E-5 39692 0 NA
1-36349052-G-A c.25+5G>A splice_region AGO1 1 79296 1.2611E-5 39648 0 3.18674E-5
1-36354028-C-T p.Ala9Val missense+splice_region AGO1 1 83206 1.20184E-5 41603 0 2.48736E-5
1-36354031-C-G p.Ala10Gly missense AGO1 35 83226 4.20542E-4 41613 0 2.86716E-4
1-36354031-C-T p.Ala10Val missense AGO1 4 83226 4.80619E-5 41613 0 3.18573E-5
1-36354032-G-A p.Ala10Ala synonymous AGO1 1 83246 1.20126E-5 41623 0 3.98575E-6
1-36354035-C-T p.Gly11Gly synonymous AGO1 1 83246 1.20126E-5 41623 0 0.00202224
1-36354044-G-GC p.Leu17fs frameshift AGO1 3 83282 3.60222E-5 41641 0 1.15789E-4
1-36354047-C-G p.Pro15Pro synonymous AGO1 1 83320 1.20019E-5 41660 0 NA
1-36354048-C-A p.Pro16Thr missense AGO1 1 83320 1.20019E-5 41660 0 NA
1-36354059-G-A p.Gln19Gln synonymous AGO1 5 83348 5.99894E-5 41674 0 NA
1-36354060-G-A p.Val20Met missense AGO1 1 83350 1.19976E-5 41675 0 NA
1-36354065-C-A p.Phe21Leu missense AGO1 2 83350 2.39952E-5 41675 0 NA
1-36354065-C-G p.Phe21Leu missense AGO1 1 83350 1.19976E-5 41675 0 NA
1-36354077-C-T p.Arg25Arg synonymous AGO1 2 83378 2.39871E-5 41689 0 NA
1-36354087-A-G p.Ile29Val missense AGO1 2 83388 2.39843E-5 41694 0 8.24035E-6
1-36354098-G-C p.Val32Val synonymous AGO1 2 83390 2.39837E-5 41695 0 3.97633E-5
1-36354152-C-T c.-76C>T 5_prime_UTR_premature_start_codon_gain AGO1 11 83402 1.31891E-4 41701 0 7.15785E-5
1-36354167-C-T c.-61C>T 5_prime_UTR_premature_start_codon_gain AGO1 97 83392 0.00116318 41696 3 0.0075
1-36354170-G-C p.Glu56Asp missense AGO1 1 83392 1.19916E-5 41696 0 NA
1-36354185-G-A p.Pro61Pro synonymous AGO1 100 83370 0.00119947 41685 1 0.00305193
1-36354185-G-C p.Pro61Pro synonymous AGO1 341 83366 0.0040904 41683 8 0.00773738
1-36354197-C-T p.Pro65Pro synonymous AGO1 1 83340 1.1999E-5 41670 0 1.19459E-5
1-36354199-G-A p.Arg66His missense AGO1 1 83318 1.20022E-5 41659 0 NA
1-36354213-T-G c.209+2T>G splice_donor AGO1 4 83196 4.80792E-5 41598 0 NA
1-36354218-G-GGTGGAATAC c.209+7_209+8insGTGGAATAC splice_region AGO1 2 83150 2.40529E-5 41575 0 NA
1-36354218-G-GGTGGA c.209+7_209+8insGTGGA splice_region AGO1 1 83150 1.20265E-5 41575 0 NA
1-36358179-C-T p.Val77Val synonymous AGO1 2 83364 2.39912E-5 41682 0 NA
1-36358256-C-G p.Ala103Gly missense AGO1 2 83356 2.39935E-5 41678 0 3.9764E-6
1-36358269-C-G p.Gly107Gly synonymous AGO1 1 83358 1.19964E-5 41679 0 NA
1-36358280-T-TCGACTTTGAGGTGACAATCCCTGGGGAAGGG c.330+2_330+3insCGACTTTGAGGTGACAATCCCTGGGGAAGGG splice_region AGO1 1 83308 1.20036E-5 41654 0 NA
1-36358285-T-A c.330+7T>A splice_region AGO1 1 83280 1.20077E-5 41640 0 NA
1-36358700-C-T p.Val111Val splice_region+synonymous AGO1 4 83014 4.81846E-5 41507 0 3.99355E-6
1-36358730-G-C p.Gly121Gly synonymous AGO1 1 83212 1.20175E-5 41606 0 NA
1-36358770-A-G p.Ile135Val missense AGO1 1 83280 1.20077E-5 41640 0 7.95387E-6
1-36358775-G-A p.Val136Val synonymous AGO1 3 83268 3.60282E-5 41634 0 NA
1-36358799-C-G p.Ala144Ala synonymous AGO1 25 83192 3.0051E-4 41596 0 8.61024E-4
1-36358800-C-T p.Leu145Leu synonymous AGO1 1 83186 1.20213E-5 41593 0 3.97684E-6
1-36358803-G-A p.Val146Ile missense AGO1 1 83184 1.20215E-5 41592 0 NA
1-36358805-C-G p.Val146Val synonymous AGO1 1 83176 1.20227E-5 41588 0 8.23791E-6
1-36358808-C-T p.Ser147Ser synonymous AGO1 2 83130 2.40587E-5 41565 0 4.11909E-5
1-36358809-G-A p.Gly148Ser missense AGO1 2 83124 2.40604E-5 41562 0 1.64764E-5
1-36358815-A-T p.Ile150Phe missense AGO1 2 83076 2.40743E-5 41538 0 NA
1-36358817-C-T p.Ile150Ile synonymous AGO1 2 83086 2.40714E-5 41543 0 NA
1-36358826-C-T p.Pro153Pro synonymous AGO1 1 83028 1.20441E-5 41514 0 3.18898E-5
1-36358832-G-A p.Glu155Glu synonymous AGO1 32 82960 3.85728E-4 41480 0 0.00124354
1-36358838-G-A p.Val157Val synonymous AGO1 1 82892 1.20639E-5 41446 0 8.24022E-6
1-36358844-C-T p.Ala159Ala synonymous AGO1 2 82858 2.41377E-5 41429 0 NA
1-36358871-A-G p.Ala168Ala synonymous AGO1 1 82522 1.2118E-5 41261 0 NA
1-36359290-C-T p.Gly176Gly synonymous AGO1 1 82326 1.21468E-5 41163 0 3.18634E-5
1-36359308-G-A p.Pro182Pro synonymous AGO1 1 82236 1.21601E-5 41118 0 NA
1-36359312-G-A p.Glu184Lys missense AGO1 2 82280 2.43072E-5 41140 0 NA
1-36359332-G-T p.Leu190Leu synonymous AGO1 1 81642 1.22486E-5 40821 0 NA
1-36359345-G-A p.Glu195Lys missense AGO1 1 81422 1.22817E-5 40711 0 NA
1-36359411-G-GTCTCAGCCACTGCCTTTTATAAGGCACAGCCA c.649_649+1insTCTCAGCCACTGCCTTTTATAAGGCACAGCCA splice_donor AGO1 1 81586 1.2257E-5 40793 0 NA
1-36359411-G-GTCTCA c.649_649+1insTCTCA splice_donor AGO1 1 81588 1.22567E-5 40794 0 NA
1-36359635-C-T c.650-3C>T splice_region AGO1 1 80282 1.24561E-5 40141 0 NA
1-36359669-A-G p.Pro227Pro synonymous AGO1 7281 81512 0.0893243 40756 1198 0.16114
1-36359700-A-G p.Ile238Val missense AGO1 1 82668 1.20966E-5 41334 0 NA
1-36359709-A-G p.Ile241Val missense AGO1 1 82766 1.20823E-5 41383 0 NA
1-36359720-G-A p.Gln244Gln synonymous AGO1 1 82836 1.2072E-5 41418 0 NA
1-36359723-C-T p.Pro245Pro synonymous AGO1 1 82854 1.20694E-5 41427 0 NA
1-36359727-C-A p.Pro247Thr missense AGO1 3 82908 3.61847E-5 41454 0 3.18532E-5
1-36359735-G-T p.Thr249Thr synonymous AGO1 1 82950 1.20555E-5 41475 0 8.92929E-6
1-36359735-G-A p.Thr249Thr synonymous AGO1 2 82950 2.41109E-5 41475 0 1.78107E-5
1-36359745-C-T p.Arg253Cys missense AGO1 1 82974 1.2052E-5 41487 0 NA
1-36359746-G-A p.Arg253His missense AGO1 1 82980 1.20511E-5 41490 0 NA
1-36359747-C-T p.Arg253Arg synonymous AGO1 1 82986 1.20502E-5 41493 0 3.18573E-5
1-36359753-C-T p.Arg255Arg synonymous AGO1 5 83028 6.02206E-5 41514 0 2.03749E-4
1-36359753-C-A p.Arg255Arg synonymous AGO1 2 83028 2.40883E-5 41514 0 1.3892E-5
1-36359758-C-T p.Thr257Ile missense AGO1 1 83048 1.20412E-5 41524 0 NA
1-36359908-T-C c.785-8T>C splice_region AGO1 1 83272 1.20088E-5 41636 0 8.26187E-6
1-36359913-C-T c.785-3C>T splice_region AGO1 3 83282 3.60222E-5 41641 0 9.08325E-5
1-36359954-A-T p.Arg275Trp missense AGO1 1 83304 1.20042E-5 41652 0 NA
1-36359962-C-T p.Tyr277Tyr synonymous AGO1 1 83284 1.20071E-5 41642 0 NA
1-36359965-C-T p.Arg278Arg synonymous AGO1 1 83286 1.20068E-5 41643 0 3.18431E-5
1-36359977-T-C p.Val282Val synonymous AGO1 4 83262 4.80411E-5 41631 0 5.96602E-5
1-36359980-C-T p.Thr283Thr synonymous AGO1 3 83256 3.60334E-5 41628 0 5.8127E-5
1-36360003-C-CATTCCCCTTACAGCTGGAGAGTGGACAGACTGTG c.872_872+1insATTCCCCTTACAGCTGGAGAGTGGACAGACTGTG splice_donor AGO1 2 83106 2.40657E-5 41553 1 NA
1-36360753-T-C p.Thr301Thr synonymous AGO1 1 83370 1.19947E-5 41685 0 NA
1-36360753-T-G p.Thr301Thr synonymous AGO1 1 83370 1.19947E-5 41685 0 NA
1-36360757-G-A p.Glu303Lys missense AGO1 1 83374 1.19941E-5 41687 0 NA
1-36360760-T-C p.Cys304Arg missense AGO1 1 83376 1.19939E-5 41688 0 NA
1-36360763-A-G p.Thr305Ala missense AGO1 3 83382 3.5979E-5 41691 0 NA
1-36360772-C-G p.Gln308Glu missense AGO1 1 83376 1.19939E-5 41688 0 NA
1-36360813-C-G p.Pro321Pro synonymous AGO1 1 83376 1.19939E-5 41688 0 NA
1-36360814-C-T p.His322Tyr missense AGO1 2 83370 2.39894E-5 41685 0 3.97807E-6
1-36360864-C-G p.Pro338Pro synonymous AGO1 16 83348 1.91966E-4 41674 0 3.50341E-4
1-36367084-A-G p.Ile344Val missense AGO1 1 83146 1.2027E-5 41573 0 6.37186E-5
1-36367100-G-A p.Arg349His missense AGO1 2 83166 2.40483E-5 41583 0 NA
1-36367134-G-A p.Ser360Ser synonymous AGO1 4 83284 4.80284E-5 41642 0 6.37146E-5
1-36367161-C-T p.Ser369Ser synonymous AGO1 5 83208 6.00904E-5 41604 0 4.37588E-5
1-36367183-A-C p.Ile377Leu missense AGO1 1 82960 1.2054E-5 41480 0 NA
1-36367189-C-T p.Arg379Cys missense AGO1 1 82796 1.20779E-5 41398 0 NA
1-36367545-G-T c.1141-4G>T splice_region AGO1 30 83214 3.60516E-4 41607 0 0.001875
1-36367570-T-G p.Leu388Val missense AGO1 2 83290 2.40125E-5 41645 0 NA
1-36367581-C-T p.Tyr391Tyr synonymous AGO1 144 83290 0.0017289 41645 1 0.0020141
1-36367586-A-G p.Gln393Arg missense AGO1 1 83298 1.20051E-5 41649 0 NA
1-36367599-C-A p.Ile397Ile synonymous AGO1 1 83312 1.20031E-5 41656 0 NA
1-36367620-G-A p.Thr404Thr synonymous AGO1 4 83300 4.80192E-5 41650 0 5.09727E-5
1-36367634-G-A p.Arg409Gln missense AGO1 1 83300 1.20048E-5 41650 0 NA
1-36367646-C-T p.Ala413Val missense AGO1 1 83266 1.20097E-5 41633 0 2.56397E-5
1-36367647-G-A p.Ala413Ala synonymous AGO1 2 83258 2.40217E-5 41629 0 1.02618E-4
1-36367662-C-T p.Tyr418Tyr synonymous AGO1 1 83206 1.20184E-5 41603 0 2.58844E-5
1-36367665-C-T p.Gly419Gly synonymous AGO1 159 83172 0.0019117 41586 3 0.00267472
1-36367666-G-A p.Gly420Ser missense AGO1 2 83172 2.40466E-5 41586 0 NA
1-36367825-C-A p.Pro428Pro synonymous AGO1 1 83348 1.19979E-5 41674 0 8.27212E-6
1-36367831-G-T p.Gln430His missense AGO1 3 83362 3.59876E-5 41681 0 8.26091E-6
1-36367831-G-A p.Gln430Gln synonymous AGO1 1 83362 1.19959E-5 41681 0 NA
1-36367855-A-G p.Lys438Lys synonymous AGO1 2 83360 2.39923E-5 41680 0 NA
1-36367866-A-G p.Asn442Ser missense AGO1 1 83362 1.19959E-5 41681 0 3.18593E-5
1-36367878-T-G p.Ile446Ser missense AGO1 1 83330 1.20005E-5 41665 0 NA
1-36367881-A-C p.Lys447Thr missense AGO1 1 83334 1.19999E-5 41667 0 8.24131E-6
1-36367904-G-A p.Ala455Thr missense AGO1 1 83258 1.20109E-5 41629 0 1.2751E-4
1-36367922-C-G p.Arg461Gly missense AGO1 1 83146 1.2027E-5 41573 0 NA
1-36367923-G-C p.Arg461Pro missense AGO1 1 83146 1.2027E-5 41573 0 NA
1-36372528-G-A c.1398-8G>A splice_region AGO1 1 83254 1.20114E-5 41627 0 NA
1-36372551-G-A p.Gln471Gln synonymous AGO1 1 83334 1.19999E-5 41667 0 3.99949E-6
1-36372556-G-A p.Arg473Gln missense AGO1 1 83350 1.19976E-5 41675 0 8.37479E-6
1-36372572-T-C p.Asp478Asp synonymous AGO1 7 83364 8.39691E-5 41682 0 5.17582E-5
1-36372574-C-T p.Ala479Val missense AGO1 1 83360 1.19962E-5 41680 0 NA
1-36372587-C-T p.Ile483Ile synonymous AGO1 1 83392 1.19916E-5 41696 0 NA
1-36372590-G-C p.Gln484His missense AGO1 4 83390 4.79674E-5 41695 0 NA
1-36372596-A-G p.Gln486Gln synonymous AGO1 3 83404 3.59695E-5 41702 0 4.12126E-5
1-36372619-A-AG p.Ala496fs frameshift AGO1 1 83396 1.1991E-5 41698 0 NA
1-36372620-G-A p.Gln494Gln synonymous AGO1 4 83398 4.79628E-5 41699 0 1.27478E-4
1-36372624-G-A p.Ala496Thr missense AGO1 1 83400 1.19904E-5 41700 0 NA
1-36372631-G-A p.Ser498Asn missense AGO1 1 83402 1.19901E-5 41701 0 NA
1-36372633-G-A p.Val499Met missense AGO1 1 83396 1.1991E-5 41698 0 NA
1-36372650-G-A p.Arg504Arg synonymous AGO1 1 83390 1.19918E-5 41695 0 6.25E-4
1-36372650-G-T p.Arg504Arg synonymous AGO1 1 83390 1.19918E-5 41695 0 1.39205E-4
1-36372665-C-G p.Thr509Thr synonymous AGO1 1 83378 1.19936E-5 41689 0 NA
1-36372668-C-T p.Tyr510Tyr synonymous AGO1 2 83378 2.39871E-5 41689 0 3.58069E-5
1-36372669-T-G p.Ser511Ala missense AGO1 1 83372 1.19944E-5 41686 0 NA
1-36372671-A-T p.Ser511Ser synonymous AGO1 1 83372 1.19944E-5 41686 0 NA
1-36372677-G-C p.Leu513Leu synonymous AGO1 1 83364 1.19956E-5 41682 0 8.26665E-6
1-36372712-C-T p.Pro525Leu missense AGO1 1 83294 1.20057E-5 41647 0 NA
1-36372713-G-A p.Pro525Pro synonymous AGO1 1 83278 1.2008E-5 41639 0 4.01765E-5
1-36372713-G-T p.Pro525Pro synonymous AGO1 1 83278 1.2008E-5 41639 0 8.54496E-6
1-36372726-G-C c.1582+6G>C splice_region AGO1 3 83186 3.60638E-5 41593 0 NA
1-36379459-C-T p.Val533Val synonymous AGO1 2 83368 2.399E-5 41684 0 6.37552E-5
1-36379486-G-A p.Thr542Thr synonymous AGO1 2 83380 2.39866E-5 41690 0 4.11902E-5
1-36379507-C-T p.Asn549Asn synonymous AGO1 1 83406 1.19895E-5 41703 0 8.2371E-6
1-36379509-T-C p.Val550Ala missense AGO1 1 83406 1.19895E-5 41703 0 NA
1-36379532-C-G p.Leu558Val missense AGO1 1 83398 1.19907E-5 41699 0 NA
1-36379558-T-C p.Asn566Asn synonymous AGO1 16 83394 1.9186E-4 41697 0 0.00251762
1-36379584-T-A p.Ile575Asn missense AGO1 1 83402 1.19901E-5 41701 0 NA
1-36379595-C-A p.His579Asn missense AGO1 2 83394 2.39825E-5 41697 0 NA
1-36379602-G-GCTCTGCC c.1742_1742+1insCTCTGCC splice_donor AGO1 2 83394 2.39825E-5 41697 0 NA
1-36379778-T-C c.1743-7T>C splice_region AGO1 1 83242 1.20132E-5 41621 0 NA
1-36379791-C-T p.Ala583Ala synonymous AGO1 3 83258 3.60326E-5 41629 0 1.5907E-5
1-36379791-C-G p.Ala583Ala synonymous AGO1 1 83258 1.20109E-5 41629 0 6.37064E-5
1-36379807-G-C p.Val589Leu missense AGO1 1 83280 1.20077E-5 41640 0 NA
1-36379824-A-G p.Ala594Ala synonymous AGO1 1 83292 1.2006E-5 41646 0 3.97646E-6
1-36379835-AC-A p.Pro600fs frameshift AGO1 1 83258 1.20109E-5 41629 0 NA
1-36379839-C-G p.Pro599Pro synonymous AGO1 1 83240 1.20135E-5 41620 0 3.29522E-5
1-36379839-C-T p.Pro599Pro synonymous AGO1 8 83240 9.61076E-5 41620 0 3.97662E-6
1-36379842-A-G p.Pro600Pro synonymous AGO1 1 83246 1.20126E-5 41623 0 1.64761E-5
1-36379853-G-A p.Gly604Glu missense AGO1 1 83174 1.2023E-5 41587 0 NA
1-36379857-A-G p.Lys605Lys synonymous AGO1 1 83146 1.2027E-5 41573 0 8.24035E-6
1-36379872-A-T p.Thr610Thr synonymous AGO1 6 83030 7.2263E-5 41515 0 6.3636E-5
1-36380946-C-T c.1834-3C>T splice_region AGO1 1 83262 1.20103E-5 41631 0 NA
1-36380967-G-C p.Ala618Pro missense AGO1 1 83272 1.20088E-5 41636 0 0.0115811
1-36380971-A-C p.His619Pro missense AGO1 1 82284 1.2153E-5 41142 0 0.229104
1-36380991-A-G p.Thr626Ala missense AGO1 2 83358 2.39929E-5 41679 0 1.64761E-5
1-36380997-C-G p.Arg628Gly missense AGO1 1 83362 1.19959E-5 41681 0 2.47129E-5
1-36381008-A-G p.Arg631Arg synonymous AGO1 1 83358 1.19964E-5 41679 0 8.23683E-6
1-36381013-G-T p.Arg633Leu missense AGO1 1 83366 1.19953E-5 41683 0 NA
1-36381014-G-A p.Arg633Arg synonymous AGO1 1 83360 1.19962E-5 41680 0 NA
1-36381038-C-G p.Ser641Ser synonymous AGO1 74 83352 8.87801E-4 41676 0 0.00100705
1-36381077-C-T p.Ser654Ser synonymous AGO1 1 83314 1.20028E-5 41657 0 8.24429E-6
1-36381081-C-T p.Arg656Cys missense AGO1 2 83298 2.40102E-5 41649 0 NA
1-36381086-C-T p.Phe657Phe synonymous AGO1 1 83298 1.20051E-5 41649 0 NA
1-36381095-C-T p.Thr660Thr synonymous AGO1 33 83274 3.96282E-4 41637 0 2.97722E-4
1-36381111-C-A p.Arg666Arg synonymous AGO1 1 83236 1.2014E-5 41618 0 3.98054E-6
1-36381143-G-GATACTCCACTATGAGCTACTGGCCATTC c.2028_2028+1insATACTCCACTATGAGCTACTGGCCATTC splice_donor AGO1 4 82960 4.8216E-5 41480 1 NA
1-36381146-A-G c.2028+3A>G splice_region AGO1 43 82922 5.1856E-4 41461 0 0.00137004
1-36381147-G-T c.2028+4G>T splice_region AGO1 8 82904 9.64972E-5 41452 0 2.4073E-5
1-36381149-G-A c.2028+6G>A splice_region AGO1 1 82860 1.20685E-5 41430 0 NA
1-36381150-CCCACAG-C c.2028+8_2028+13delCCACAG splice_region AGO1 1 82860 1.20685E-5 41430 0 NA
1-36383212-C-T p.Leu683Leu synonymous AGO1 1 83306 1.20039E-5 41653 0 6.36943E-5
1-36383249-A-G p.Asp695Gly missense AGO1 2 83316 2.4005E-5 41658 0 NA
1-36383253-C-T p.Tyr696Tyr synonymous AGO1 96 83326 0.0011521 41663 0 0.00254874
1-36383271-T-C p.Tyr702Tyr synonymous AGO1 3 83312 3.60092E-5 41656 0 6.76116E-5
1-36383277-G-A p.Val704Val synonymous AGO1 49 83298 5.88249E-4 41649 0 6.25E-4
1-36383283-G-A p.Gln706Gln synonymous AGO1 1 83314 1.20028E-5 41657 0 NA
1-36383287-C-T p.Arg708Cys missense AGO1 1 83294 1.20057E-5 41647 0 NA
1-36383288-G-A p.Arg708His missense AGO1 2 83290 2.40125E-5 41645 0 8.23818E-6
1-36383325-G-A p.Glu720Glu synonymous AGO1 1 83200 1.20192E-5 41600 0 NA
1-36383328-A-G p.Arg721Arg splice_region+synonymous AGO1 1 83170 1.20236E-5 41585 0 3.18654E-5
1-36383334-T-C c.2163+6T>C splice_region AGO1 1 83148 1.20267E-5 41574 0 8.26023E-6
1-36383930-A-G p.Lys724Arg missense AGO1 2 83122 2.4061E-5 41561 0 5.56695E-5
1-36383955-CA-C p.Thr733fs frameshift AGO1 1 83226 1.20155E-5 41613 0 3.97659E-6
1-36384001-C-T p.Leu748Leu synonymous AGO1 3 83180 3.60664E-5 41590 0 3.97659E-6
1-36384003-G-C p.Leu748Leu synonymous AGO1 4 83186 4.8085E-5 41593 0 1.35209E-4
1-36384028-G-T c.2265+4G>T splice_region AGO1 1713 82988 0.0206415 41494 21 0.0173393
1-36384029-C-G c.2265+5C>G splice_region AGO1 2 83058 2.40796E-5 41529 0 1.19309E-5
1-36384031-G-A c.2265+7G>A splice_region AGO1 1 83028 1.20441E-5 41514 0 NA
1-36384653-C-T c.2266-3C>T splice_region AGO1 3 82898 3.61891E-5 41449 0 NA
1-36384679-C-T p.Tyr763Tyr synonymous AGO1 1 83202 1.20189E-5 41601 0 1.65344E-5
1-36384694-T-C p.Asp768Asp synonymous AGO1 2 83250 2.4024E-5 41625 0 8.2575E-6
1-36384739-G-A p.Gln783Gln synonymous AGO1 1 83258 1.20109E-5 41629 0 8.26269E-6
1-36384754-C-T p.Tyr788Tyr synonymous AGO1 3 83238 3.60412E-5 41619 0 1.19343E-5
1-36384754-C-G p.Tyr788* stop_gained AGO1 1 83238 1.20137E-5 41619 0 NA
1-36384774-T-C p.Val795Ala missense AGO1 2 83210 2.40356E-5 41605 0 NA
1-36384833-C-T p.Leu815Leu synonymous AGO1 1 83024 1.20447E-5 41512 0 8.99637E-6
1-36384836-G-T p.Val816Leu missense AGO1 1 83000 1.20482E-5 41500 0 NA
1-36384861-G-T c.2465+6G>T splice_region AGO1 1 82784 1.20796E-5 41392 0 3.18492E-5
1-36385121-G-A p.Ser829Ser synonymous AGO1 1 82732 1.20872E-5 41366 0 3.65399E-4
1-36385138-G-T p.Arg835Leu missense AGO1 1 82942 1.20566E-5 41471 0 NA
1-36385151-C-A p.Ala839Ala synonymous AGO1 2 83044 2.40836E-5 41522 0 3.18471E-5
1-36385157-C-T p.Ala841Ala synonymous AGO1 2 83080 2.40732E-5 41540 0 3.98375E-6
1-36385163-C-T p.Ala843Ala synonymous AGO1 1 83088 1.20354E-5 41544 0 3.18471E-5
1-36385191-A-G p.Thr853Ala missense AGO1 1 83058 1.20398E-5 41529 0 5.04032E-4