Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
18-5145285-G-T c.*276C>A splice_region C18orf42 12 24096 4.98008E-4 12048 0 1.91767E-4
18-5145368-C-A c.*193G>T splice_region C18orf42 1 49414 2.02372E-5 24707 0 NA
18-5145561-T-C p.Ter70Ter stop_retained C18orf42 1 81362 1.22908E-5 40681 0 NA
18-5145572-C-T p.Glu67Lys missense C18orf42 3 81436 3.68387E-5 40718 0 3.25127E-5
18-5145573-G-A p.His66His synonymous C18orf42 70 81434 8.59592E-4 40717 0 0.0075
18-5145577-T-C p.Lys65Arg missense C18orf42 1 81456 1.22766E-5 40728 0 NA
18-5145589-T-A p.Glu61Val missense C18orf42 1 81468 1.22748E-5 40734 0 1.94899E-5
18-5145592-C-T p.Gly60Glu missense C18orf42 5 81480 6.13647E-5 40740 0 6.49401E-6
18-5145595-A-T p.Val59Asp missense C18orf42 6 81488 7.36305E-5 40744 0 3.24722E-5
18-5145596-C-T p.Val59Ile missense C18orf42 13 81486 1.59537E-4 40743 0 0.001875
18-5145602-G-C p.Leu57Val missense C18orf42 1 81492 1.22711E-5 40746 0 7.79029E-5
18-5145603-T-G p.Gln56His missense C18orf42 1 81492 1.22711E-5 40746 0 1.2985E-5
18-5145609-G-T p.His54Gln missense C18orf42 13988 81306 0.172041 40653 1407 0.232405
18-5145612-G-C p.Asp53Glu missense C18orf42 1 81476 1.22736E-5 40738 0 NA
18-5145614-C-G p.Asp53His missense C18orf42 1 81482 1.22726E-5 40741 0 NA
18-5145616-C-T p.Arg52Gln missense C18orf42 3 81480 3.68189E-5 40740 0 NA
18-5145617-G-A p.Arg52Trp missense C18orf42 4 81476 4.90942E-5 40738 0 5.84211E-5
18-5145643-C-T p.Arg43His missense C18orf42 3 81430 3.68415E-5 40715 0 5.04541E-5
18-5145654-C-T p.Gln39Gln synonymous C18orf42 1 81426 1.22811E-5 40713 0 NA
18-5145656-G-A p.Gln39* stop_gained C18orf42 1 81422 1.22817E-5 40711 0 NA
18-5145672-A-G p.Ala33Ala synonymous C18orf42 10 81386 1.22871E-4 40693 1 2.86551E-4
18-5145674-C-T p.Ala33Thr missense C18orf42 2 81386 2.45743E-5 40693 0 NA
18-5145677-G-T p.Gln32Lys missense C18orf42 1 81368 1.22898E-5 40684 0 NA
18-5145677-G-A p.Gln32* stop_gained C18orf42 1 81368 1.22898E-5 40684 0 NA
18-5145684-T-TGCATTCTGCACAATCTGTTTGCTG p.Ala29_Ile30insSerLysGlnIleValGlnAsnAla disruptive_inframe_insertion C18orf42 10 81370 1.22895E-4 40685 0 8.44364E-5
18-5145687-A-G p.Asn28Asn synonymous C18orf42 7 81370 8.60268E-5 40685 0 9.54988E-5
18-5145723-C-T p.Val16Val synonymous C18orf42 1 81324 1.22965E-5 40662 0 NA
18-5145726-C-G p.Glu15Asp missense C18orf42 1 81322 1.22968E-5 40661 0 3.1839E-5
18-5145731-CA-C p.Glu14fs frameshift C18orf42 1 81320 1.22971E-5 40660 0 NA
18-5145737-C-T p.Glu12Lys missense C18orf42 1 81290 1.23016E-5 40645 0 NA
18-5145742-C-T p.Gly10Glu missense C18orf42 1 81256 1.23068E-5 40628 0 6.53535E-6
18-5145745-G-T p.Pro9His missense C18orf42 1 81246 1.23083E-5 40623 0 NA
18-5145751-T-G p.Glu7Ala missense C18orf42 4 81230 4.92429E-5 40615 0 1.31225E-5
18-5197050-C-T p.Met1? start_lost C18orf42 1 78442 1.27483E-5 39221 0 NA
18-5197052-T-C p.Met1? start_lost C18orf42 2 78446 2.54952E-5 39223 0 5.27795E-5
18-5197079-G-T c.-27C>A 5_prime_UTR_premature_start_codon_gain C18orf42 1 78470 1.27437E-5 39235 0 NA
18-5197097-G-A c.-45C>T 5_prime_UTR_premature_start_codon_gain C18orf42 3 78426 3.82526E-5 39213 0 6.62524E-5
18-5197132-G-A c.-80C>T 5_prime_UTR_premature_start_codon_gain C18orf42 1 77968 1.28258E-5 38984 0 NA
18-5197139-G-A c.-87C>T 5_prime_UTR_premature_start_codon_gain C18orf42 3 77638 3.86409E-5 38819 0 NA
18-5197185-C-T c.-133G>A 5_prime_UTR_premature_start_codon_gain C18orf42 1 73392 1.36255E-5 36696 0 NA
18-5197188-C-A c.-136G>T 5_prime_UTR_premature_start_codon_gain C18orf42 10 72820 1.37325E-4 36410 0 3.21316E-5
18-5197202-C-A c.-150G>T 5_prime_UTR_premature_start_codon_gain C18orf42 1 72422 1.3808E-5 36211 0 NA
18-5197222-G-T c.-170C>A 5_prime_UTR_premature_start_codon_gain C18orf42 1 69810 1.43246E-5 34905 0 NA
18-5197459-G-T p.Ala10Asp missense C18orf42 1 26986 3.70563E-5 13493 0 3.22997E-5
18-5197459-G-C p.Ala10Gly missense C18orf42 1 26986 3.70563E-5 13493 0 NA
18-5197468-C-T p.Arg7Gln missense C18orf42 1 26214 3.81476E-5 13107 0 NA