Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
7-6048887-C-T c.-108C>T 5_prime_UTR_premature_start_codon_gain AIMP2 1 79458 1.25853E-5 39729 0 NA
7-6048917-C-T c.-78C>T 5_prime_UTR_premature_start_codon_gain AIMP2 8 79722 1.00349E-4 39861 0 3.50475E-4
7-6048918-G-T c.-77G>T 5_prime_UTR_premature_start_codon_gain AIMP2 2 79726 2.50859E-5 39863 0 NA
7-6048924-C-T c.-71C>T 5_prime_UTR_premature_start_codon_gain AIMP2 1 79820 1.25282E-5 39910 0 NA
7-6048990-C-T c.-5C>T 5_prime_UTR_premature_start_codon_gain AIMP2 15 81154 1.84834E-4 40577 0 4.46229E-4
7-6048999-C-T p.Pro2Leu missense AIMP2 1 81244 1.23086E-5 40622 0 NA
7-6049001-ATG-A p.Met3fs frameshift AIMP2 1 81306 1.22992E-5 40653 0 NA
7-6049009-G-C p.Gln5His missense AIMP2 2 81350 2.45851E-5 40675 0 7.98104E-5
7-6049010-G-C c.-251+1G>C splice_donor AIMP2 115 81340 0.00141382 40670 0 0.00566038
7-6049016-C-G p.Pro8Ala missense AIMP2 1 81386 1.22871E-5 40693 0 NA
7-6049035-C-T p.Ala14Val missense AIMP2 2 81352 2.45845E-5 40676 0 NA
7-6049036-G-A p.Ala14Ala synonymous AIMP2 1 81338 1.22944E-5 40669 0 6.37959E-5
7-6049037-C-G p.Pro15Ala missense AIMP2 16 81364 1.96647E-4 40682 0 6.28931E-4
7-6049040-C-T p.Leu16Phe missense AIMP2 3 81426 3.68433E-5 40713 0 8.43185E-6
7-6049044-G-A p.Arg17His missense AIMP2 2 81424 2.45628E-5 40712 0 8.43996E-6
7-6049044-G-T p.Arg17Leu missense AIMP2 2 81424 2.45628E-5 40712 0 NA
7-6049051-G-A p.Glu19Glu synonymous AIMP2 20 81300 2.46002E-4 40650 0 0.00125471
7-6049052-C-T p.Leu20Phe missense AIMP2 1 81298 1.23004E-5 40649 0 3.19E-5
7-6049057-C-T p.Pro21Pro synonymous AIMP2 27 81244 3.32332E-4 40622 0 0.00125471
7-6049061-T-G p.Cys23Gly missense AIMP2 1 81236 1.23098E-5 40618 0 4.01358E-6
7-6049063-C-T p.Cys23Cys synonymous AIMP2 28 81234 3.44683E-4 40617 0 3.50832E-4
7-6049064-ATG-A p.Met24fs frameshift AIMP2 1 81214 1.23131E-5 40607 0 NA
7-6049068-A-G p.Tyr25Cys missense AIMP2 1 81100 1.23305E-5 40550 0 NA
7-6049070-C-G p.Arg26Gly missense AIMP2 3 81068 3.7006E-5 40534 0 8.56898E-6
7-6049071-G-C p.Arg26Pro missense AIMP2 1 81012 1.23439E-5 40506 0 NA
7-6049073-C-T p.Leu27Phe missense AIMP2 1 80980 1.23487E-5 40490 0 NA
7-6049073-C-G p.Leu27Val missense AIMP2 1 80980 1.23487E-5 40490 0 NA
7-6049075-C-T p.Leu27Leu synonymous AIMP2 5 80986 6.17391E-5 40493 0 6.30517E-4
7-6049077-C-G p.Pro28Arg missense AIMP2 1 80938 1.23551E-5 40469 0 NA
7-6049081-C-A p.Asn29Lys missense AIMP2 1 80830 1.23716E-5 40415 0 8.66972E-6
7-6049087-C-A p.His31Gln missense AIMP2 4 80676 4.9581E-5 40338 0 6.38855E-5
7-6049087-C-T p.His31His synonymous AIMP2 1 80676 1.23953E-5 40338 0 5.28778E-5
7-6049090-C-A p.Gly32Gly synonymous AIMP2 1 80600 1.24069E-5 40300 0 NA
7-6049092-G-A p.Arg33Lys missense AIMP2 2 80556 2.48275E-5 40278 0 8.84017E-6
7-6049093-G-T p.Arg33Ser missense AIMP2 1 80484 1.24248E-5 40242 0 4.09614E-6
7-6049097-T-A p.Tyr35Asn missense AIMP2 1 80288 1.24552E-5 40144 0 4.12674E-6
7-6049100-G-T p.Gly36Cys missense AIMP2 1 80110 1.24828E-5 40055 0 NA
7-6049101-G-A p.Gly36Asp missense AIMP2 2 80000 2.5E-5 40000 0 8.74546E-6
7-6049102-C-T p.Gly36Gly synonymous AIMP2 1 80004 1.24994E-5 40002 0 NA
7-6049103-C-G p.Pro37Ala missense AIMP2 101 79998 0.00126253 39999 0 0.0025227
7-6049103-C-A p.Pro37Thr missense AIMP2 16 80000 2.0E-4 40000 0 5.50166E-5
7-6049104-C-T p.Pro37Leu missense AIMP2 1 80022 1.24966E-5 40011 0 9.25806E-6
7-6049106-G-T p.Ala38Ser missense AIMP2 1 79898 1.2516E-5 39949 0 NA
7-6049108-G-T p.Ala38Ala synonymous AIMP2 1 79798 1.25316E-5 39899 0 NA
7-6049108-G-A p.Ala38Ala synonymous AIMP2 1 79798 1.25316E-5 39899 0 3.7623E-5
7-6049111-G-T p.Pro39Pro synonymous AIMP2 1 79766 1.25367E-5 39883 0 NA
7-6049111-G-A p.Pro39Pro synonymous AIMP2 1 79766 1.25367E-5 39883 0 9.60799E-5
7-6049113-G-C p.Gly40Ala missense AIMP2 3 79698 3.76421E-5 39849 0 3.20061E-5
7-6049116-C-G p.Ala41Gly missense AIMP2 1 79620 1.25597E-5 39810 0 3.20041E-5
7-6049117-T-C p.Ala41Ala synonymous AIMP2 3 79604 3.76866E-5 39802 0 NA
7-6049124-G-A p.Val44Met missense AIMP2 5 79314 6.30406E-5 39657 0 1.6547E-5
7-6049134-G-A c.135+5G>A splice_region AIMP2 8 78674 1.01685E-4 39337 0 4.86787E-5
7-6052313-C-T p.Leu47Phe missense AIMP2 1 21176 4.72233E-5 10588 0 NA
7-6052315-C-G p.Leu47Leu synonymous AIMP2 2 21272 9.40203E-5 10636 0 8.36016E-5
7-6052769-G-A c.*448G>A splice_region AIMP2 2 18404 1.08672E-4 9202 0 NA
7-6054532-G-T c.-250-1G>T splice_acceptor AIMP2 6 54962 1.09166E-4 27481 0 6.39141E-5
7-6054539-C-T c.-244C>T 5_prime_UTR_premature_start_codon_gain AIMP2 2 58880 3.39674E-5 29440 0 3.19509E-5
7-6054581-C-T c.-202C>T 5_prime_UTR_premature_start_codon_gain AIMP2 1 73454 1.3614E-5 36727 0 NA
7-6054598-A-G c.-185A>G 5_prime_UTR_premature_start_codon_gain AIMP2 1 76420 1.30856E-5 38210 0 NA
7-6054610-C-T c.-173C>T 5_prime_UTR_premature_start_codon_gain AIMP2 2 77778 2.57142E-5 38889 0 NA
7-6054617-C-T c.-166C>T 5_prime_UTR_premature_start_codon_gain AIMP2 2 78822 2.53736E-5 39411 0 NA
7-6054684-G-C c.-100+1G>C splice_donor AIMP2 1 82858 1.20688E-5 41429 0 NA
7-6054691-C-A c.-100+8C>A splice_region AIMP2 3 82938 3.61716E-5 41469 0 NA
7-6054777-G-A p.Glu46Lys missense+splice_region AIMP2 2 83388 2.39843E-5 41694 0 NA
7-6054782-G-A p.Glu47Glu synonymous AIMP2 1 83396 1.1991E-5 41698 0 2.47105E-5
7-6054791-G-A p.Leu50Leu synonymous AIMP2 1 83408 1.19893E-5 41704 0 2.47097E-5
7-6054795-C-G p.Leu52Val missense AIMP2 4 83410 4.79559E-5 41705 0 3.18451E-5
7-6054796-T-C p.Leu52Pro missense AIMP2 1 83412 1.19887E-5 41706 0 3.1839E-5
7-6054813-C-T p.Arg58Cys missense AIMP2 7 83418 8.39147E-5 41709 0 6.36902E-5
7-6054814-G-A p.Arg58His missense AIMP2 5 83420 5.99377E-5 41710 0 9.55901E-5
7-6054826-T-C p.Ile62Thr missense AIMP2 1 83428 1.19864E-5 41714 0 NA
7-6054834-C-T p.Arg65Cys missense AIMP2 84 83432 0.00100681 41716 1 0.00553877
7-6054841-A-G p.Tyr67Cys missense AIMP2 1 83430 1.19861E-5 41715 0 3.97621E-6
7-6054842-T-TCA p.Glu68fs frameshift AIMP2 1 83426 1.19867E-5 41713 0 NA
7-6054848-G-A p.Leu69Leu synonymous AIMP2 1 83430 1.19861E-5 41715 0 NA
7-6054854-T-A p.Ala71Ala synonymous AIMP2 19 83430 2.27736E-4 41715 0 6.28241E-4
7-6054859-T-C p.Val73Ala missense AIMP2 3 83430 3.59583E-5 41715 0 1.64728E-5
7-6054871-C-G p.Ser77Cys missense AIMP2 1 83428 1.19864E-5 41714 0 NA
7-6054874-A-G p.Lys78Arg missense AIMP2 2 83430 2.39722E-5 41715 0 8.23642E-6
7-6054880-T-C p.Ile80Thr missense AIMP2 2 83430 2.39722E-5 41715 0 1.64728E-5
7-6054886-C-T p.Thr82Ile missense AIMP2 1 83432 1.19858E-5 41716 0 1.64728E-5
7-6054887-A-T p.Thr82Thr synonymous AIMP2 1 83432 1.19858E-5 41716 0 NA
7-6054888-C-T p.Pro83Ser missense AIMP2 1 83430 1.19861E-5 41715 0 1.64728E-5
7-6054891-G-A p.Asp84Asn missense AIMP2 2 83430 2.39722E-5 41715 0 3.18431E-5
7-6054894-G-A p.Ala85Thr missense AIMP2 7 83424 8.39087E-5 41712 0 7.15723E-5
7-6054898-A-C p.Asp86Ala missense AIMP2 1 83420 1.19875E-5 41710 0 3.18471E-5
7-6054902-G-T p.Leu87Phe missense AIMP2 2 83424 2.39739E-5 41712 0 NA
7-6054902-G-A p.Leu87Leu synonymous AIMP2 1 83424 1.1987E-5 41712 0 6.25E-4
7-6054911-C-T p.Thr90Thr synonymous AIMP2 309 83424 0.00370397 41712 0 0.00780404
7-6054912-A-G p.Asn91Asp missense AIMP2 2 83428 2.39728E-5 41714 0 3.18492E-5
7-6054914-C-T p.Asn91Asn synonymous AIMP2 1 83426 1.19867E-5 41713 0 NA
7-6054914-C-A p.Asn91Lys missense AIMP2 2 83426 2.39733E-5 41713 0 3.97627E-6
7-6054923-A-T p.Gln94His missense AIMP2 1 83420 1.19875E-5 41710 0 1.64731E-5
7-6054925-C-T p.Ala95Val missense AIMP2 13 83418 1.55842E-4 41709 0 2.78339E-5
7-6054927-G-T p.Asp96Tyr missense AIMP2 2 83416 2.39762E-5 41708 0 NA
7-6054932-G-A p.Glu97Glu synonymous AIMP2 1 83420 1.19875E-5 41710 0 3.97624E-6
7-6054952-A-G p.Asn104Ser missense AIMP2 2 83392 2.39831E-5 41696 0 1.64745E-5
7-6054952-A-T p.Asn104Ile missense AIMP2 1 83392 1.19916E-5 41696 0 NA
7-6054955-C-T p.Ala105Val missense AIMP2 1 83376 1.19939E-5 41688 0 1.59055E-5
7-6054956-G-A p.Ala105Ala synonymous AIMP2 1 83376 1.19939E-5 41688 0 3.18451E-5
7-6054960-G-T p.Asp107Tyr missense AIMP2 1 83350 1.19976E-5 41675 0 2.38588E-5
7-6054971-A-G p.Ser110Ser synonymous AIMP2 1 83312 1.20031E-5 41656 0 1.64802E-5
7-6054972-G-A p.Val111Met missense AIMP2 4 83308 4.80146E-5 41654 0 6.59207E-5
7-6054987-G-A c.342+4G>A splice_region AIMP2 19137 81212 0.235643 40606 1934 0.2675
7-6054990-T-C c.342+7T>C splice_region AIMP2 1 83098 1.2034E-5 41549 0 NA
7-6054991-C-T c.342+8C>T splice_region AIMP2 25 83058 3.00994E-4 41529 0 1.94941E-4
7-6057454-G-T p.Ala118Ser missense AIMP2 1 82954 1.20549E-5 41477 0 NA
7-6057457-C-G p.Leu119Val missense AIMP2 1 82986 1.20502E-5 41493 0 1.75294E-5
7-6057457-C-A p.Leu119Met missense AIMP2 2 82986 2.41005E-5 41493 0 NA
7-6057460-A-C p.Lys120Gln missense AIMP2 3 83034 3.61298E-5 41517 0 7.1815E-5
7-6057467-T-C p.Ile122Thr missense AIMP2 1 83108 1.20325E-5 41554 0 1.99322E-5
7-6057468-C-T p.Ile122Ile synonymous AIMP2 1 83104 1.20331E-5 41552 0 NA
7-6057468-C-A p.Ile122Ile synonymous AIMP2 1 83104 1.20331E-5 41552 0 3.98734E-6
7-6057477-C-T p.Asn125Asn synonymous AIMP2 15 83146 1.80406E-4 41573 0 0.00151668
7-6057477-C-A p.Asn125Lys missense AIMP2 1 83150 1.20265E-5 41575 0 NA
7-6057478-G-A p.Ala126Thr missense AIMP2 2 83142 2.40552E-5 41571 0 1.17899E-4
7-6057481-A-G p.Asn127Asp missense AIMP2 1 83170 1.20236E-5 41585 0 NA
7-6057486-G-A p.Pro128Pro synonymous AIMP2 1 83162 1.20247E-5 41581 0 3.18715E-5
7-6057503-C-T p.Ser134Phe missense AIMP2 4 83238 4.8055E-5 41619 0 1.23362E-4
7-6057504-C-T p.Ser134Ser synonymous AIMP2 9 83234 1.08129E-4 41617 0 2.49074E-5
7-6057504-C-G p.Ser134Ser synonymous AIMP2 13 83234 1.56186E-4 41617 0 5.04032E-4
7-6057508-C-G p.Leu136Val missense AIMP2 2 83244 2.40258E-5 41622 0 NA
7-6057522-G-A p.Arg140Arg synonymous AIMP2 1 83242 1.20132E-5 41621 0 8.27979E-6
7-6057524-T-G p.Leu141Arg missense AIMP2 3 83248 3.60369E-5 41624 0 NA
7-6057525-G-C p.Leu141Leu synonymous AIMP2 5 83240 6.00673E-5 41620 0 3.18613E-5
7-6057525-G-A p.Leu141Leu synonymous AIMP2 1 83240 1.20135E-5 41620 0 NA
7-6057533-A-C p.Glu144Ala missense AIMP2 1 83228 1.20152E-5 41614 0 NA
7-6057544-G-A p.Val148Ile missense AIMP2 13 83224 1.56205E-4 41612 0 0.0025
7-6057555-G-A p.Thr151Thr synonymous AIMP2 2 83216 2.40338E-5 41608 0 5.78847E-5
7-6057563-C-T p.Thr154Met missense AIMP2 12 83226 1.44186E-4 41613 0 6.25E-4
7-6057564-G-T p.Thr154Thr synonymous AIMP2 316 83214 0.00379744 41607 0 0.00791069
7-6057570-C-G p.Ser156Ser synonymous AIMP2 3 83240 3.60404E-5 41620 0 2.90409E-4
7-6057572-C-T p.Ser157Leu missense AIMP2 1 83220 1.20163E-5 41610 0 NA
7-6057573-G-A p.Ser157Ser synonymous AIMP2 27 83238 3.24371E-4 41619 0 0.005
7-6057581-G-A p.Ser160Asn missense AIMP2 1 83264 1.201E-5 41632 0 NA
7-6057582-C-T p.Ser160Ser synonymous AIMP2 4 83250 4.8048E-5 41625 0 1.07522E-4
7-6057583-G-A p.Val161Met missense AIMP2 3 83260 3.60317E-5 41630 0 2.4811E-5
7-6057595-C-T p.Leu165Phe missense AIMP2 1 83288 1.20065E-5 41644 0 3.19366E-5
7-6057598-C-A p.Leu166Ile missense AIMP2 1080 83274 0.0129692 41637 29 0.025329
7-6057606-C-T p.Cys168Cys synonymous AIMP2 2 83264 2.402E-5 41632 0 9.58405E-5
7-6057611-G-T p.Gly170Val missense AIMP2 2 83268 2.40188E-5 41634 0 9.5816E-5
7-6057625-A-G p.Lys175Glu missense AIMP2 1 83260 1.20106E-5 41630 0 8.34878E-6
7-6057635-G-A p.Arg178His missense AIMP2 3 83302 3.60135E-5 41651 0 NA
7-6057643-T-C p.Tyr181His missense AIMP2 1 83292 1.2006E-5 41646 0 3.98099E-6
7-6057644-A-G p.Tyr181Cys missense AIMP2 2 83292 2.40119E-5 41646 0 NA
7-6057645-T-C p.Tyr181Tyr synonymous AIMP2 1 83290 1.20062E-5 41645 0 3.9807E-6
7-6057647-A-T p.Gln182Leu missense AIMP2 1 83288 1.20065E-5 41644 0 1.63071E-4
7-6057647-A-C p.Gln182Pro missense AIMP2 1 83288 1.20065E-5 41644 0 3.98111E-6
7-6057648-G-A p.Gln182Gln synonymous AIMP2 1 83292 1.2006E-5 41646 0 NA
7-6057660-T-A p.Thr186Thr synonymous AIMP2 1 83268 1.20094E-5 41634 0 NA
7-6057661-T-A p.Leu187Ile missense AIMP2 1 83266 1.20097E-5 41633 0 3.99297E-6
7-6057679-A-G c.574+3A>G splice_region AIMP2 3 83216 3.60508E-5 41608 0 1.62476E-5
7-6062926-C-T c.575-8C>T splice_region AIMP2 1 82848 1.20703E-5 41424 0 0.0119265
7-6062932-A-G c.575-2A>G splice_acceptor AIMP2 2 83348 2.39958E-5 41674 0 NA
7-6062937-C-T p.Pro193Leu missense AIMP2 4 83358 4.79858E-5 41679 0 1.27413E-4
7-6062938-G-C p.Pro193Pro synonymous AIMP2 1 83352 1.19973E-5 41676 0 NA
7-6062944-G-A p.Thr195Thr synonymous AIMP2 1 83360 1.19962E-5 41680 0 3.18431E-5
7-6062945-C-G p.Gln196Glu missense AIMP2 1 83372 1.19944E-5 41686 0 1.72712E-5
7-6062967-C-T p.Thr203Met missense AIMP2 8 83396 9.59279E-5 41698 0 4.89289E-5
7-6062974-C-T p.Cys205Cys synonymous AIMP2 1 83400 1.19904E-5 41700 0 1.21318E-5
7-6062978-A-G p.Ile207Val missense AIMP2 4 83398 4.79628E-5 41699 0 NA
7-6062980-C-A p.Ile207Ile synonymous AIMP2 3 83392 3.59747E-5 41696 0 6.25E-4
7-6062981-G-A p.Glu208Lys missense AIMP2 4 83396 4.79639E-5 41698 0 7.64354E-5
7-6062985-G-A p.Gly209Asp missense AIMP2 1 83402 1.19901E-5 41701 0 NA
7-6062997-T-C p.Ile213Thr missense AIMP2 3 83394 3.59738E-5 41697 0 6.36821E-5
7-6063000-C-T p.Ala214Val missense AIMP2 1 83394 1.19913E-5 41697 0 NA
7-6063011-TTCTC-T p.Ser219fs frameshift AIMP2 4 83400 4.79616E-5 41700 0 6.36902E-5
7-6063011-TTC-T p.Leu220fs frameshift AIMP2 1 83400 1.19904E-5 41700 0 7.98097E-6
7-6063014-T-C p.Ser219Pro missense AIMP2 2 83394 2.39825E-5 41697 0 1.64832E-5
7-6063023-G-A p.Gly222Ser missense AIMP2 1 83384 1.19927E-5 41692 0 NA
7-6063027-A-G p.Gln223Arg missense AIMP2 2 83374 2.39883E-5 41687 0 2.47154E-5
7-6063032-C-G p.His225Asp missense AIMP2 6 83378 7.19614E-5 41689 0 3.59649E-5
7-6063035-A-G p.Asn226Asp missense AIMP2 1 83378 1.19936E-5 41689 0 7.99488E-6
7-6063036-A-G p.Asn226Ser missense AIMP2 21 83376 2.51871E-4 41688 0 1.64764E-4
7-6063037-T-C p.Asn226Asn synonymous AIMP2 4 83376 4.79754E-5 41688 0 NA
7-6063039-C-T p.Ala227Val missense AIMP2 2 83370 2.39894E-5 41685 0 3.99974E-6
7-6063042-T-C p.Val228Ala missense AIMP2 1 83372 1.19944E-5 41686 0 3.1839E-5
7-6063043-C-T p.Val228Val synonymous AIMP2 1 83370 1.19947E-5 41685 0 NA
7-6063047-G-T p.Ala230Ser missense AIMP2 1 83362 1.19959E-5 41681 0 NA
7-6063056-A-G p.Ile233Val missense AIMP2 1 83324 1.20013E-5 41662 0 NA
7-6063078-C-T p.Ala240Val missense AIMP2 4 82940 4.82276E-5 41470 0 5.18135E-4
7-6063079-G-A p.Ala240Ala synonymous AIMP2 1 82908 1.20616E-5 41454 0 NA
7-6063091-A-G p.Leu244Leu synonymous AIMP2 1 82502 1.21209E-5 41251 0 3.29522E-5
7-6063094-A-G p.Lys245Lys synonymous AIMP2 1 82366 1.21409E-5 41183 0 NA
7-6063097-GGGA-G p.Gly247del conservative_inframe_deletion AIMP2 1 82224 1.21619E-5 41112 0 4.01387E-6
7-6063101-A-T p.Ser248Cys missense AIMP2 1 82078 1.21835E-5 41039 0 4.01419E-6
7-6063102-G-A p.Ser248Asn missense AIMP2 1 82042 1.21889E-5 41021 0 NA
7-6063103-C-T p.Ser248Ser synonymous AIMP2 1 81990 1.21966E-5 40995 0 2.47145E-5
7-6063103-C-CTTCCCTCTTT p.Ser249fs frameshift AIMP2 1 81990 1.21966E-5 40995 0 4.01465E-6
7-6063119-G-A p.Ala254Thr missense AIMP2 4 81306 4.91969E-5 40653 0 5.18135E-4
7-6063128-C-T p.Arg257Cys missense AIMP2 4 80916 4.9434E-5 40458 0 3.18532E-5
7-6063129-G-A p.Arg257His missense AIMP2 2 80848 2.47378E-5 40424 0 1.24516E-4
7-6063133-C-T p.Ser258Ser synonymous AIMP2 2 80804 2.47513E-5 40402 0 3.18532E-5
7-6063134-A-G p.Met259Val missense AIMP2 2 80798 2.47531E-5 40399 0 2.00774E-5
7-6063135-T-C p.Met259Thr missense AIMP2 2 80784 2.47574E-5 40392 0 8.0309E-6
7-6063162-G-C p.Trp268Ser missense AIMP2 2 80548 2.48299E-5 40274 0 NA
7-6063166-C-T p.Leu269Leu synonymous AIMP2 11 80512 1.36626E-4 40256 0 1.9274E-4
7-6063167-G-A p.Ala270Thr missense AIMP2 1 80502 1.24221E-5 40251 0 5.7672E-5
7-6063174-A-G p.Asn272Ser missense AIMP2 1 80506 1.24214E-5 40253 0 3.1835E-5
7-6063178-A-T p.Glu273Asp missense AIMP2 1 80500 1.24224E-5 40250 0 NA
7-6063181-C-T p.Leu274Leu synonymous AIMP2 1 80494 1.24233E-5 40247 0 4.01542E-6
7-6063185-G-A p.Val276Ile missense AIMP2 9 80492 1.11812E-4 40246 0 4.45888E-4
7-6063193-C-T p.Asp278Asp synonymous AIMP2 2 80488 2.48484E-5 40244 0 3.18471E-5
7-6063194-G-A p.Val279Met missense AIMP2 2 80484 2.48497E-5 40242 0 6.25E-4
7-6063209-G-A p.Val284Ile missense AIMP2 2 80502 2.48441E-5 40251 0 1.64783E-5
7-6063223-C-A p.Ile288Ile synonymous AIMP2 22 80518 2.73231E-4 40259 0 4.4586E-4
7-6063223-C-T p.Ile288Ile synonymous AIMP2 4 80520 4.96771E-5 40260 0 6.36943E-5
7-6063224-G-C p.Gly289Arg missense AIMP2 1 80534 1.24171E-5 40267 0 NA
7-6063224-G-A p.Gly289Arg missense AIMP2 4 80534 4.96685E-5 40267 0 9.55597E-5
7-6063242-G-A p.Val295Met missense AIMP2 2 80664 2.47942E-5 40332 0 4.01535E-6
7-6063248-G-A p.Ala297Thr missense AIMP2 2 80708 2.47807E-5 40354 0 NA
7-6063252-A-G p.Asn298Ser missense AIMP2 2 80816 2.47476E-5 40408 0 1.20454E-5
7-6063268-G-A p.Met303Ile missense AIMP2 2 81274 2.46081E-5 40637 0 1.64747E-5
7-6063270-G-A p.Arg304Lys missense AIMP2 1 81326 1.22962E-5 40663 0 NA
7-6063271-G-T p.Arg304Ser missense AIMP2 2 81354 2.45839E-5 40677 0 NA
7-6063283-C-T p.Asn308Asn synonymous AIMP2 32202 81376 0.395719 40688 6550 0.471503
7-6063288-C-G p.Ala310Gly missense AIMP2 1 81902 1.22097E-5 40951 0 3.18552E-5
7-6063290-C-T p.Pro311Ser missense AIMP2 1 81958 1.22014E-5 40979 0 NA
7-6063300-C-T p.Thr314Met missense AIMP2 1 82194 1.21663E-5 41097 0 6.8295E-5
7-6063307-C-G p.Leu316Leu synonymous AIMP2 1 82370 1.21403E-5 41185 0 8.23995E-6
7-6063309-A-G p.Lys317Arg missense AIMP2 2 82432 2.42624E-5 41216 0 NA
7-6063311-C-T p.Leu318Phe missense AIMP2 2 82440 2.42601E-5 41220 0 1.20458E-5
7-6063313-C-T p.Leu318Leu synonymous AIMP2 2 82524 2.42354E-5 41262 0 2.47235E-5
7-6063315-TTAAGTGAATTGCCG-T p.Lys320fs frameshift AIMP2 6 82572 7.26639E-5 41286 0 1.27389E-4
7-6063317-A-C p.Lys320Gln missense AIMP2 1 82618 1.21039E-5 41309 0 3.18532E-5
7-6063319-G-C p.Lys320Asn missense AIMP2 1 82646 1.20998E-5 41323 0 6.36983E-5
7-6063378-C-G c.*56C>G splice_region AIMP2 3 82928 3.6176E-5 41464 0 3.81185E-5
7-6063464-T-G c.*142T>G splice_region AIMP2 168 80872 0.00207736 40436 2 0.00219717
7-6063465-A-T c.*143A>T splice_region AIMP2 7 80850 8.65801E-5 40425 0 7.0086E-4