Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
2-135596151-T-A c.-102T>A 5_prime_UTR_premature_start_codon_gain ACMSD 2 73986 2.70321E-5 36993 0 NA
2-135596161-G-T c.-92G>T 5_prime_UTR_premature_start_codon_gain ACMSD 1 75888 1.31773E-5 37944 0 NA
2-135596206-T-C c.-171T>C 5_prime_UTR_premature_start_codon_gain ACMSD 2 81078 2.46676E-5 40539 0 3.19244E-5
2-135596262-G-T p.Asp4Tyr missense ACMSD 1 82168 1.21702E-5 41084 0 NA
2-135596266-T-C p.Ile5Thr missense ACMSD 52 82194 6.3265E-4 41097 1 0.00375
2-135596267-C-T p.Ile5Ile synonymous ACMSD 74 82200 9.00243E-4 41100 1 0.00214044
2-135596268-C-T p.His6Tyr missense ACMSD 1 82188 1.21672E-5 41094 0 NA
2-135596283-C-T p.Pro11Ser missense ACMSD 1 82198 1.21657E-5 41099 0 NA
2-135596285-A-T p.Pro11Pro synonymous ACMSD 444 82196 0.00540172 41098 8 0.0120693
2-135596296-C-G p.Pro15Arg missense ACMSD 1 82178 1.21687E-5 41089 0 NA
2-135596310-G-A c.-68+1G>A splice_donor ACMSD 2 81922 2.44135E-5 40961 0 8.43227E-6
2-135596314-T-C c.-68+5T>C splice_region ACMSD 1 81836 1.22196E-5 40918 0 NA
2-135602824-G-A p.Val27Met missense ACMSD 1 82896 1.20633E-5 41448 0 NA
2-135602845-A-C p.Lys34Gln missense+splice_region ACMSD 3 82696 3.62775E-5 41348 0 4.01149E-6
2-135602847-G-T p.Lys34Asn missense+splice_region ACMSD 2 82710 2.41809E-5 41355 0 2.72805E-4
2-135616826-C-G c.-22-5C>G splice_region ACMSD 1 83308 1.20036E-5 41654 0 NA
2-135616841-A-C p.Lys38Thr missense ACMSD 2 83338 2.39987E-5 41669 0 0.00100705
2-135616845-G-T p.Leu39Phe missense ACMSD 1 83342 1.19988E-5 41671 0 4.95123E-5
2-135616861-G-C p.Lys3Asn missense ACMSD 2 83338 2.39987E-5 41669 0 NA
2-135616862-T-A p.Ser4Thr missense ACMSD 1 83342 1.19988E-5 41671 0 1.64959E-5
2-135616872-G-A p.Trp7* stop_gained ACMSD 1 83342 1.19988E-5 41671 0 NA
2-135616876-C-T p.Arg50* stop_gained ACMSD 1 83338 1.19993E-5 41669 0 4.12296E-5
2-135616877-G-A p.Glu9Lys missense ACMSD 118 83328 0.00141609 41664 1 0.00296405
2-135616886-G-A p.Ala12Thr missense ACMSD 1 83336 1.19996E-5 41668 0 3.18512E-5
2-135616891-G-C p.Asp55His missense ACMSD 22 83330 2.64011E-4 41665 1 0.00120101
2-135616896-A-T p.Gln15Leu missense ACMSD 3 83326 3.60032E-5 41663 0 3.46523E-4
2-135616903-C-T p.Arg59Cys missense ACMSD 18 83308 2.16066E-4 41654 0 1.03407E-4
2-135616904-G-A p.Val18Ile missense ACMSD 1 83304 1.20042E-5 41652 0 3.30158E-5
2-135616931-C-T c.75+4C>T splice_region ACMSD 2 83218 2.40333E-5 41609 0 3.18674E-5
2-135619531-A-G c.200-8A>G splice_region ACMSD 1 83206 1.20184E-5 41603 0 NA
2-135619537-A-G c.200-2A>G splice_acceptor ACMSD 1 83254 1.20114E-5 41627 0 NA
2-135619542-T-A p.Val68Glu missense ACMSD 1 83280 1.20077E-5 41640 0 NA
2-135619547-G-A p.Val70Met missense ACMSD 1 83298 1.20051E-5 41649 0 4.0067E-6
2-135619590-T-A c.249+2T>A splice_donor ACMSD 1 83264 1.201E-5 41632 0 NA
2-135620964-G-A c.76-1G>A splice_acceptor ACMSD 1 83242 1.20132E-5 41621 0 3.98451E-6
2-135620982-T-G p.Thr31Thr synonymous ACMSD 1 83324 1.20013E-5 41662 0 3.31598E-5
2-135620996-A-G p.Gln36Arg missense ACMSD 1 83352 1.19973E-5 41676 0 NA
2-135620997-G-C p.Gln36His missense ACMSD 6 83356 7.19804E-5 41678 0 1.91058E-4
2-135621002-T-A p.Leu38* stop_gained ACMSD 1 83356 1.19967E-5 41678 0 1.98859E-5
2-135621009-C-T p.Asn40Asn synonymous ACMSD 1 83362 1.19959E-5 41681 0 NA
2-135621010-G-A p.Asp41Asn missense ACMSD 9 83362 1.07963E-4 41681 0 3.18471E-5
2-135621016-G-A p.Ala43Thr missense ACMSD 1 83366 1.19953E-5 41683 0 NA
2-135621024-C-T p.Thr45Thr synonymous ACMSD 1 83370 1.19947E-5 41685 0 3.1841E-5
2-135621025-G-A p.Val46Ile missense ACMSD 4 83372 4.79777E-5 41686 0 4.95115E-5
2-135621034-T-G p.Tyr49Asp missense ACMSD 1 83372 1.19944E-5 41686 0 NA
2-135621036-C-A p.Tyr49* stop_gained ACMSD 1 83372 1.19944E-5 41686 0 3.1837E-5
2-135621042-G-C p.Arg51Ser missense ACMSD 2 83378 2.39871E-5 41689 0 NA
2-135621043-A-T p.Arg52Trp missense ACMSD 1 83374 1.19941E-5 41687 0 1.64948E-5
2-135621048-C-T p.Phe53Phe synonymous ACMSD 4 83360 4.79846E-5 41680 0 2.86316E-4
2-135621049-G-A p.Val54Met missense ACMSD 1 83362 1.19959E-5 41681 0 1.649E-5
2-135621049-G-T p.Val54Leu missense ACMSD 2 83362 2.39917E-5 41681 0 NA
2-135621052-G-C p.Gly55Arg missense ACMSD 1 83368 1.1995E-5 41684 0 NA
2-135621062-C-T p.Thr58Met missense ACMSD 10 83366 1.19953E-4 41683 0 6.25E-4
2-135621063-G-A p.Thr58Thr synonymous ACMSD 10 83366 1.19953E-4 41683 0 6.25E-4
2-135621071-T-C p.Met61Thr missense ACMSD 1 83364 1.19956E-5 41682 0 3.97684E-6
2-135621077-C-T p.Ala63Val missense ACMSD 3 83368 3.5985E-5 41684 0 NA
2-135621081-T-A p.Pro64Pro synonymous ACMSD 1 83368 1.1995E-5 41684 0 2.473E-5
2-135621089-C-A p.Ala67Glu missense ACMSD 2 83348 2.39958E-5 41674 0 1.27389E-4
2-135621089-C-T p.Ala67Val missense ACMSD 2 83348 2.39958E-5 41674 0 3.18471E-5
2-135621090-G-A p.Ala67Ala synonymous ACMSD 18 83350 2.15957E-4 41675 0 0.00100705
2-135621091-G-A p.Val68Ile missense ACMSD 1 83354 1.1997E-5 41677 0 3.1839E-5
2-135621094-A-G p.Lys69Glu missense ACMSD 3 83352 3.59919E-5 41676 0 NA
2-135621107-G-A p.Arg73His missense ACMSD 5 83322 6.00082E-5 41661 0 6.36983E-5
2-135621115-A-G p.Lys76Glu missense ACMSD 34 83334 4.07997E-4 41667 0 5.03525E-4
2-135621117-A-G p.Lys76Lys synonymous ACMSD 1 83332 1.20002E-5 41666 0 NA
2-135621126-C-T p.Gly79Gly synonymous ACMSD 13 83302 1.56059E-4 41651 0 2.22958E-4
2-135621133-G-A p.Gly82Arg missense ACMSD 1 83266 1.20097E-5 41633 0 3.30387E-5
2-135621134-G-A p.Gly82Glu missense ACMSD 1 83270 1.20091E-5 41635 0 3.98137E-6
2-135621142-A-G p.Ile85Val missense ACMSD 2 83232 2.40292E-5 41616 0 NA
2-135621143-T-C p.Ile85Thr missense ACMSD 1 83230 1.20149E-5 41615 0 3.18613E-5
2-135621153-C-T p.His88His synonymous ACMSD 2 83154 2.40518E-5 41577 0 1.65358E-5
2-135621154-G-A p.Val89Ile missense ACMSD 1 83144 1.20273E-5 41572 0 6.25E-4
2-135621157-A-G p.Asn90Asp missense ACMSD 1 83078 1.20369E-5 41539 0 NA
2-135621159-C-T p.Asn90Asn synonymous ACMSD 1 83070 1.2038E-5 41535 0 3.18492E-5
2-135621160-G-A p.Glu91Lys missense ACMSD 2 83054 2.40807E-5 41527 0 3.18451E-5
2-135621163-T-C p.Trp92Arg missense ACMSD 1 83046 1.20415E-5 41523 0 NA
2-135621169-C-G p.Leu94Val missense ACMSD 1 82912 1.2061E-5 41456 0 2.48736E-5
2-135621170-T-C p.Leu94Pro missense ACMSD 1 82898 1.2063E-5 41449 0 NA
2-135621171-G-A p.Leu94Leu synonymous ACMSD 3 82862 3.62048E-5 41431 0 1.27429E-4
2-135621174-C-T p.Asn95Asn synonymous ACMSD 1 82768 1.2082E-5 41384 0 6.37267E-5
2-135621176-C-G p.Ala96Gly missense ACMSD 1 82666 1.20969E-5 41333 0 1.20022E-5
2-135621176-C-T p.Ala96Val missense ACMSD 1 82666 1.20969E-5 41333 0 1.66187E-5
2-135621177-G-A p.Ala96Ala synonymous ACMSD 3 82620 3.63108E-5 41310 0 1.59297E-4
2-135621200-C-T p.Ala104Val missense+splice_region ACMSD 18 81816 2.20006E-4 40908 0 1.28855E-4
2-135621201-G-A p.Ala104Ala splice_region+synonymous ACMSD 1 81774 1.22288E-5 40887 0 6.74957E-5
2-135625153-C-T p.Ala106Val missense ACMSD 1 83056 1.20401E-5 41528 0 3.98594E-6
2-135625160-G-C p.Arg108Ser missense ACMSD 2 83128 2.40593E-5 41564 0 5.03525E-4
2-135625163-G-C p.Leu109Leu synonymous ACMSD 2 83160 2.405E-5 41580 0 3.98048E-6
2-135625179-G-A p.Val115Met missense ACMSD 5 83214 6.0086E-5 41607 0 9.0617E-5
2-135625203-G-A p.Asp123Asn missense ACMSD 1 83262 1.20103E-5 41631 0 5.03525E-4
2-135625203-G-C p.Asp123His missense ACMSD 1 83262 1.20103E-5 41631 0 8.2375E-6
2-135625209-C-T p.Arg125* stop_gained ACMSD 3 83270 3.60274E-5 41635 0 5.03525E-4
2-135625210-G-A p.Arg125Gln missense ACMSD 1 83270 1.20091E-5 41635 0 3.29527E-5
2-135625217-CA-C p.Lys128fs frameshift ACMSD 1 83278 1.2008E-5 41639 0 NA
2-135628539-G-A p.Met137Ile missense ACMSD 7 83116 8.42196E-5 41558 0 NA
2-135628548-G-T p.Glu140Asp missense ACMSD 2 83202 2.40379E-5 41601 0 1.59378E-4
2-135628554-C-T p.Thr142Thr synonymous ACMSD 2 83216 2.40338E-5 41608 0 2.23015E-4
2-135628555-A-ATAGCCATT p.Cys146fs frameshift ACMSD 1 83216 1.20169E-5 41608 0 NA
2-135628556-T-C p.Ile143Thr missense ACMSD 1 83212 1.20175E-5 41606 0 2.48057E-5
2-135628558-G-A p.Ala144Thr missense ACMSD 1 83246 1.20126E-5 41623 0 1.65336E-5
2-135628566-C-T p.Cys146Cys synonymous ACMSD 2 83252 2.40234E-5 41626 0 7.43802E-5
2-135628577-T-C p.Met150Thr missense ACMSD 2 83218 2.40333E-5 41609 0 3.18532E-5
2-135628583-G-C p.Gly152Ala missense ACMSD 1 83234 1.20143E-5 41617 0 3.97785E-6
2-135628583-G-T p.Gly152Val missense ACMSD 2 83234 2.40286E-5 41617 0 2.38671E-5
2-135628585-G-A p.Val153Ile missense ACMSD 5 83242 6.00658E-5 41621 0 3.82214E-4
2-135628588-T-C p.Phe154Leu missense ACMSD 1 83240 1.20135E-5 41620 0 NA
2-135628602-C-A p.Pro158Pro synonymous ACMSD 1 83238 1.20137E-5 41619 0 NA
2-135628611-A-T p.Lys161Asn missense ACMSD 12 83204 1.44224E-4 41602 0 6.48545E-4
2-135628614-G-A p.Val162Val synonymous ACMSD 1 83190 1.20207E-5 41595 0 NA
2-135628620-C-T p.Phe164Phe synonymous ACMSD 3 83172 3.60698E-5 41586 0 3.34241E-5
2-135630040-T-C p.Gly168Gly splice_region+synonymous ACMSD 2 83266 2.40194E-5 41633 0 NA
2-135630045-C-T p.Ala170Val missense ACMSD 1 83284 1.20071E-5 41642 0 6.25E-4
2-135630051-C-A p.Pro172His missense ACMSD 1 83284 1.20071E-5 41642 0 NA
2-135630073-C-A p.Ser179Ser synonymous ACMSD 13 83292 1.56077E-4 41646 0 0.00100705
2-135630075-A-G p.His180Arg missense ACMSD 2 83292 2.40119E-5 41646 0 1.59132E-5
2-135630078-G-C p.Gly181Ala missense ACMSD 1 83290 1.20062E-5 41645 0 NA
2-135630080-T-C p.Phe182Leu missense ACMSD 1 83290 1.20062E-5 41645 0 NA
2-135630083-A-C p.Ser183Arg missense ACMSD 4 83300 4.80192E-5 41650 0 6.37186E-5
2-135630089-C-A p.Arg185Ser missense ACMSD 1 83300 1.20048E-5 41650 0 9.55901E-5
2-135630089-C-T p.Arg185Cys missense ACMSD 2 83300 2.40096E-5 41650 0 6.25E-4
2-135630091-C-T p.Arg185Arg synonymous ACMSD 1 83306 1.20039E-5 41653 0 NA
2-135630107-C-A p.Gln191Lys missense ACMSD 1 83304 1.20042E-5 41652 0 NA
2-135630115-C-T p.Asn193Asn synonymous ACMSD 2 83296 2.40108E-5 41648 0 NA
2-135630116-C-T p.Pro194Ser missense ACMSD 1 83296 1.20054E-5 41648 0 1.19331E-5
2-135630120-T-C p.Met195Thr missense ACMSD 1 83296 1.20054E-5 41648 0 NA
2-135630126-C-T p.Pro197Leu missense ACMSD 2 83282 2.40148E-5 41641 0 1.19337E-5
2-135630127-G-A p.Pro197Pro synonymous ACMSD 8 83274 9.60684E-5 41637 0 1.27421E-4
2-135630155-G-T p.Asp207Tyr missense ACMSD 1 83182 1.20218E-5 41591 0 3.97826E-6
2-135630170-G-C p.Asp212His missense ACMSD 3 83150 3.60794E-5 41575 0 3.29603E-5
2-135630179-TC-T p.Leu216fs frameshift ACMSD 1 83130 1.20294E-5 41565 0 3.18492E-5
2-135630186-A-G p.Lys217Arg missense ACMSD 8 83114 9.62533E-5 41557 0 5.03525E-4
2-135630204-T-C p.Ile223Thr missense ACMSD 19 83008 2.28894E-4 41504 0 0.00125
2-135630211-G-A p.Lys225Lys splice_region+synonymous ACMSD 1 82962 1.20537E-5 41481 0 1.59224E-5
2-135655903-T-G c.676-8T>G splice_region ACMSD 3 81750 3.66972E-5 40875 0 4.5625E-6
2-135655913-T-A p.Asp226Glu missense+splice_region ACMSD 2 82228 2.43226E-5 41114 0 3.19163E-5
2-135655927-G-A p.Gly231Glu missense ACMSD 7 82310 8.50443E-5 41155 0 8.68546E-6
2-135655935-T-A p.Tyr234Asn missense ACMSD 17 82692 2.05582E-4 41346 0 5.01023E-5
2-135655939-C-T p.Pro235Leu missense ACMSD 8 82702 9.67328E-5 41351 0 6.24105E-5
2-135655940-C-T p.Pro235Pro synonymous ACMSD 1 82716 1.20896E-5 41358 0 8.3149E-6
2-135655945-C-T p.Pro237Leu missense ACMSD 2 82720 2.41779E-5 41360 0 NA
2-135655946-A-C p.Pro237Pro synonymous ACMSD 1 82740 1.20861E-5 41370 0 4.10145E-6
2-135655948-T-C p.Leu238Pro missense ACMSD 1 82720 1.2089E-5 41360 0 NA
2-135655953-G-A p.Glu240Lys missense ACMSD 1 82766 1.20823E-5 41383 0 8.30317E-6
2-135655973-A-G p.Leu246Leu synonymous ACMSD 1 82784 1.20796E-5 41392 0 NA
2-135655973-AAT-A p.Ile247fs frameshift ACMSD 1 82784 1.20796E-5 41392 0 8.31947E-6
2-135655978-A-G p.Glu248Gly missense ACMSD 1 82768 1.2082E-5 41384 0 NA
2-135655993-T-C p.Phe253Ser missense ACMSD 2 82568 2.42225E-5 41284 0 1.6816E-5
2-135656010-G-A c.774+1G>A splice_donor ACMSD 1 82450 1.21286E-5 41225 0 6.37349E-5
2-135656016-T-C c.774+7T>C splice_region ACMSD 1 82322 1.21474E-5 41161 0 2.2795E-5
2-135659375-T-C p.Leu261Pro missense ACMSD 1 81386 1.22871E-5 40693 0 NA
2-135659382-C-T p.Ala263Ala synonymous ACMSD 2 81604 2.45086E-5 40802 0 3.39709E-5
2-135659383-G-A p.Gly264Ser missense ACMSD 19 81668 2.32649E-4 40834 0 0.00100705
2-135659393-T-C p.Leu267Pro missense ACMSD 3 82030 3.6572E-5 41015 0 1.27405E-4
2-135659396-C-T p.Ala268Val missense ACMSD 1 81996 1.21957E-5 40998 0 NA
2-135659397-A-AT p.Leu270fs frameshift ACMSD 1 82056 1.21868E-5 41028 0 NA
2-135659408-T-A p.Leu272His missense ACMSD 1 82244 1.21589E-5 41122 0 8.38603E-6
2-135659416-AAAC-A p.Gln276del conservative_inframe_deletion ACMSD 1 82358 1.21421E-5 41179 0 3.18451E-5
2-135659422-T-C p.Phe277Leu missense ACMSD 1 82362 1.21415E-5 41181 0 9.73931E-5
2-135659603-A-G c.*173A>G splice_region ACMSD 1 55530 1.80083E-5 27765 0 NA