Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
11-76571943-C-T c.-78C>T 5_prime_UTR_premature_start_codon_gain ACER3 1 60680 1.64799E-5 30340 0 NA
11-76571949-C-T c.-72C>T 5_prime_UTR_premature_start_codon_gain ACER3 1 63142 1.58373E-5 31571 0 6.92521E-4
11-76571977-C-T c.-44C>T 5_prime_UTR_premature_start_codon_gain ACER3 1 73894 1.35329E-5 36947 0 NA
11-76572009-G-T c.-12G>T 5_prime_UTR_premature_start_codon_gain ACER3 3 76444 3.92444E-5 38222 0 NA
11-76572018-G-A c.-3G>A 5_prime_UTR_premature_start_codon_gain ACER3 123 76942 0.00159861 38471 0 0.00109437
11-76572018-G-T c.-3G>T 5_prime_UTR_premature_start_codon_gain ACER3 1 76944 1.29965E-5 38472 0 NA
11-76572024-G-C p.Ala2Pro missense ACER3 4 77224 5.17974E-5 38612 0 1.94225E-4
11-76572024-G-T p.Ala2Ser missense ACER3 1 77224 1.29493E-5 38612 0 NA
11-76572028-C-T p.Pro3Leu missense ACER3 1 77326 1.29323E-5 38663 0 NA
11-76572029-G-A p.Pro3Pro synonymous ACER3 1 77308 1.29353E-5 38654 0 NA
11-76572030-G-A p.Ala4Thr missense ACER3 12 77392 1.55055E-4 38696 0 2.5697E-4
11-76572032-C-T c.-328C>T 5_prime_UTR_premature_start_codon_gain ACER3 3 77402 3.87587E-5 38701 0 NA
11-76572035-G-A p.Ala5Ala synonymous ACER3 2 77548 2.57905E-5 38774 0 2.09993E-5
11-76572038-C-T p.Asp6Asp synonymous ACER3 1 77668 1.28753E-5 38834 0 6.19502E-5
11-76572048-T-G p.Tyr10Asp missense ACER3 2 77982 2.56469E-5 38991 0 NA
11-76572049-A-G p.Tyr10Cys missense ACER3 1 77956 1.28277E-5 38978 0 3.20574E-5
11-76572057-C-T p.Pro13Ser missense ACER3 2 78014 2.56364E-5 39007 0 NA
11-76572065-C-T p.Thr15Thr synonymous ACER3 59 78054 7.55887E-4 39027 0 0.0015679
11-76572065-C-G p.Thr15Thr synonymous ACER3 1 78054 1.28116E-5 39027 0 3.1998E-5
11-76572081-T-G p.Cys21Gly missense ACER3 1 77948 1.28291E-5 38974 0 NA
11-76572082-G-A p.Cys21Tyr missense ACER3 1 77948 1.28291E-5 38974 0 NA
11-76572093-T-C p.Tyr25His missense ACER3 1 77920 1.28337E-5 38960 0 NA
11-76572123-T-TGGAATACA c.103_103+1insGGAATACA splice_donor ACER3 1 77536 1.28972E-5 38768 0 NA
11-76572130-G-C c.103+7G>C splice_region ACER3 1 77454 1.29109E-5 38727 0 9.58528E-5
11-76579186-GA-G p.Lys43fs frameshift ACER3 1 75466 1.3251E-5 37733 0 7.43494E-6
11-76579188-AG-A p.Ser44fs frameshift ACER3 4 75460 5.30082E-5 37730 0 9.92556E-4
11-76579195-C-A p.Asn45Lys missense ACER3 1 75468 1.32506E-5 37734 0 7.43152E-6
11-76579205-G-A p.Val49Met missense ACER3 1 75480 1.32485E-5 37740 0 3.18471E-5
11-76579215-A-G p.His52Arg missense ACER3 1 75480 1.32485E-5 37740 0 NA
11-76579220-G-A p.Ala54Thr missense ACER3 1 75478 1.32489E-5 37739 0 7.43185E-6
11-76579257-G-A p.Gly66Asp missense ACER3 3 75318 3.98311E-5 37659 0 NA
11-76579262-A-G p.Ile68Val missense ACER3 1 75250 1.3289E-5 37625 0 NA
11-76579266-C-T p.Pro69Leu missense ACER3 1 75158 1.33053E-5 37579 0 NA
11-76579274-T-A p.Ter72Argext*? stop_lost ACER3 1 74982 1.33365E-5 37491 0 2.98623E-5
11-76579319-G-A c.*35+8G>A splice_region ACER3 1 71700 1.3947E-5 35850 0 3.18613E-5
11-76637603-A-AAT p.Thr37fs frameshift ACER3 1 81778 1.22282E-5 40889 0 NA
11-76637644-C-T c.-210C>T 5_prime_UTR_premature_start_codon_gain ACER3 7 82260 8.5096E-5 41130 0 5.11345E-4
11-76637645-G-A p.Gly50Ser missense ACER3 2 82196 2.43321E-5 41098 0 5.04032E-4
11-76637651-G-A p.Val52Ile missense ACER3 56683 80768 0.7018 40384 20308 0.693342
11-76637655-A-C p.Gln53Pro missense ACER3 1 82308 1.21495E-5 41154 0 3.18471E-5
11-76637668-C-T c.-186C>T 5_prime_UTR_premature_start_codon_gain ACER3 1 82256 1.21572E-5 41128 0 1.99383E-5
11-76637669-G-A p.Gly58Ser missense ACER3 1 82212 1.21637E-5 41106 0 8.24402E-6
11-76637670-G-C p.Gly58Ala missense ACER3 2 82274 2.4309E-5 41137 0 NA
11-76637675-G-C p.Glu60Gln missense ACER3 2 82272 2.43096E-5 41136 0 8.24457E-6
11-76637677-A-G p.Glu60Glu synonymous ACER3 1 82222 1.21622E-5 41111 0 NA
11-76637679-A-G p.Lys61Arg missense ACER3 1 82202 1.21652E-5 41101 0 NA
11-76637680-G-A p.Lys61Lys synonymous ACER3 51866 80256 0.646257 40128 17961 0.669375
11-76637681-C-T p.Arg62Trp missense ACER3 2 82144 2.43475E-5 41072 0 6.25E-4
11-76637682-G-A p.Arg62Gln missense ACER3 6 82074 7.31048E-5 41037 0 3.29951E-5
11-76637687-A-G p.Ile64Val missense ACER3 38 82120 4.62737E-4 41060 0 3.18471E-4
11-76670025-G-A p.Val73Ile missense+splice_region ACER3 1 83036 1.2043E-5 41518 0 3.98111E-6
11-76670032-T-C p.Met75Thr missense ACER3 1 83044 1.20418E-5 41522 0 NA
11-76670033-G-GGGAT p.Ser77fs frameshift ACER3 1 83044 1.20418E-5 41522 0 NA
11-76670042-G-A p.Trp78* stop_gained ACER3 1 83050 1.20409E-5 41525 0 3.98111E-6
11-76670116-T-C c.215-5T>C splice_region ACER3 196 82376 0.00237933 41188 1 0.00455298
11-76670129-C-T p.Gln75* stop_gained ACER3 22 82034 2.68181E-4 41017 0 9.55049E-4
11-76687328-T-G c.*108-5T>G splice_region ACER3 2 82138 2.43493E-5 41069 0 3.18532E-5
11-76687368-C-T p.Cys6Cys synonymous ACER3 2 82220 2.4325E-5 41110 0 NA
11-76687381-T-A p.Cys11Ser missense ACER3 3 82010 3.65809E-5 41005 0 NA
11-76687383-C-T p.Cys11Cys splice_region+synonymous ACER3 1 81958 1.22014E-5 40979 0 NA
11-76687385-T-G p.Met12Arg missense+splice_region ACER3 1 81908 1.22088E-5 40954 0 NA
11-76687387-T-C c.*160+2T>C splice_donor ACER3 1 81808 1.22237E-5 40904 0 NA
11-76696683-C-G c.*161-4C>G splice_region ACER3 11 81056 1.35709E-4 40528 0 0.00251572
11-76696693-A-C p.Glu14Asp missense ACER3 2 81420 2.4564E-5 40710 0 1.44468E-5
11-76696698-T-C p.Phe16Ser missense ACER3 1 81588 1.22567E-5 40794 0 NA
11-76696738-C-T p.Thr29Thr synonymous ACER3 9 81830 1.09984E-4 40915 0 1.27632E-4
11-76696768-A-G p.Thr39Thr splice_region+synonymous ACER3 1 81010 1.23442E-5 40505 0 4.64796E-5
11-76701576-T-A c.*243-7T>A splice_region ACER3 1 80302 1.2453E-5 40151 0 NA
11-76701606-G-A p.Pro47Pro synonymous ACER3 52449 78494 0.668191 39247 18711 0.705625
11-76705245-G-A p.Arg5Gln missense ACER3 1 7306 1.36874E-4 3653 0 3.2039E-5
11-76705275-G-A c.*461+5G>A splice_region ACER3 1 7366 1.35759E-4 3683 0 9.71817E-5
11-76709800-T-G c.*279-7T>G splice_region ACER3 1 82094 1.21812E-5 41047 0 NA
11-76709811-T-C p.Met53Thr missense ACER3 1 82234 1.21604E-5 41117 0 NA
11-76709820-T-C p.Met56Thr missense ACER3 3 82340 3.64343E-5 41170 0 3.18552E-5
11-76709833-A-C p.Thr60Thr synonymous ACER3 2 82326 2.42937E-5 41163 0 NA
11-76709837-G-C p.Val62Leu missense ACER3 1 82342 1.21445E-5 41171 0 NA
11-76709843-C-T p.Arg64* stop_gained ACER3 1 82296 1.21513E-5 41148 0 2.50063E-5
11-76709844-G-A p.Arg64Gln missense ACER3 1 82316 1.21483E-5 41158 0 NA
11-76709866-G-GGTTTATCCATGGCTTAGAGGACTGGGTTATACATCATTGGGTATATTTT c.*337+1_*337+2insGTTTATCCATGGCTTAGAGGACTGGGTTATACATCATTGGGTATATTTT splice_donor ACER3 1 82144 1.21737E-5 41072 0 NA
11-76722371-C-A n.395-3C>A splice_region ACER3 1 25086 3.98629E-5 12543 0 NA
11-76722373-GA-G n.396delA splice_region ACER3 1 25094 3.98502E-5 12547 0 NA
11-76722420-G-GT n.440+1_440+2insT splice_donor ACER3 4 25086 1.59451E-4 12543 0 NA
11-76722424-G-C n.440+5G>C splice_region ACER3 1 25084 3.9866E-5 12542 0 NA
11-76726055-C-A c.*338-5C>A splice_region ACER3 20 81378 2.45767E-4 40689 1 6.25E-4
11-76726055-C-T c.*338-5C>T splice_region ACER3 1 81378 1.22883E-5 40689 0 3.18431E-5
11-76726055-C-G c.*338-5C>G splice_region ACER3 3 81378 3.6865E-5 40689 0 3.18431E-5
11-76726065-A-G p.Tyr73Cys missense ACER3 1 81826 1.22211E-5 40913 0 NA
11-76726066-TCC-T p.Pro74fs frameshift ACER3 1 81880 1.2213E-5 40940 0 NA
11-76726098-T-C p.Leu84Ser missense ACER3 1 82244 1.21589E-5 41122 0 NA
11-76726100-G-A p.Gly85Ser missense ACER3 1 82204 1.21649E-5 41102 0 NA
11-76726103-A-G p.Ile86Val missense ACER3 49 82196 5.96136E-4 41098 0 0.00125
11-76726112-T-C p.Leu89Leu synonymous ACER3 1 82258 1.21569E-5 41129 0 NA
11-76726114-G-C p.Leu89Phe missense ACER3 1 82284 1.2153E-5 41142 0 NA
11-76726114-G-A p.Leu89Leu synonymous ACER3 1 82284 1.2153E-5 41142 0 4.78958E-5
11-76726126-T-C p.Phe93Phe synonymous ACER3 1 82228 1.21613E-5 41114 0 8.42701E-6
11-76726132-T-G p.Asn95Lys missense ACER3 1 82104 1.21797E-5 41052 0 NA
11-76726138-T-C p.Asp97Asp synonymous ACER3 1 81978 1.21984E-5 40989 0 8.57207E-6
11-76726159-G-GAGGAACTTTCGAAAGA c.*439+1_*439+2insAACTTTCGAAAGAAGG splice_donor ACER3 2 80976 2.46987E-5 40488 0 NA
11-76726305-G-A c.*675G>A splice_region ACER3 14 52564 2.66342E-4 26282 0 2.22944E-4
11-76727722-C-A p.Asn106Lys missense ACER3 1 81256 1.23068E-5 40628 0 4.49669E-6
11-76727734-G-A p.Lys110Lys synonymous ACER3 1 81696 1.22405E-5 40848 0 8.64857E-6
11-76727742-C-G p.Pro113Arg missense ACER3 1 81904 1.22094E-5 40952 0 NA
11-76727781-A-T p.His126Leu missense ACER3 2 82312 2.42978E-5 41156 0 4.06151E-6
11-76727803-C-T p.Ser133Ser synonymous ACER3 1 81744 1.22333E-5 40872 0 NA
11-76727805-A-G p.Tyr134Cys missense ACER3 1 81658 1.22462E-5 40829 0 NA
11-76727823-G-GTTT c.*544_*544+1insTTT splice_donor ACER3 2 80648 2.47991E-5 40324 1 NA
11-76730785-A-C p.Arg144Arg synonymous ACER3 1 83204 1.20187E-5 41602 0 3.18471E-5
11-76730802-A-G p.Arg149Arg synonymous ACER3 1 83198 1.20195E-5 41599 0 8.2371E-6
11-76731310-CCAAA-C c.*591-7_*591-4delCAAA splice_region ACER3 1 82464 1.21265E-5 41232 0 1.59257E-5
11-76731313-A-G c.*591-5A>G splice_region ACER3 1 82476 1.21247E-5 41238 0 NA
11-76731323-C-T p.Leu157Leu synonymous ACER3 1 82602 1.21062E-5 41301 0 8.25137E-6
11-76731328-G-A p.Gly159Glu missense ACER3 1 82644 1.21001E-5 41322 0 NA
11-76731338-A-C p.Pro162Pro synonymous ACER3 1 82652 1.20989E-5 41326 0 8.24633E-6
11-76731353-G-A p.Glu167Glu synonymous ACER3 2 82650 2.41984E-5 41325 0 6.36821E-5
11-76731362-G-A p.Arg170Arg synonymous ACER3 25 82594 3.02685E-4 41297 0 3.8642E-4