Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
14-21152423-C-T c.-513C>T 5_prime_UTR_premature_start_codon_gain ANG 2 2838 7.04722E-4 1419 0 9.55292E-5
14-21152610-C-T c.-326C>T 5_prime_UTR_premature_start_codon_gain ANG 1 688 0.00145349 344 0 NA
14-21152918-G-GAGCCTGTGTTGGAAGAGATGGTGATGGGCCTGGGCGTTT c.-19+1_-19+2insAGCCTGTGTTGGAAGAGATGGTGATGGGCCTGGGCGTTT splice_donor ANG 1 22 0.0454545 11 0 NA
14-21152918-G-GCACC c.-19+1_-19+2insCACC splice_donor ANG 1 20 0.05 10 0 NA
14-21152918-G-GAGCCTGTGTTGGAAGAGATGGTGATGGGCC c.-19+1_-19+2insAGCCTGTGTTGGAAGAGATGGTGATGGGCC splice_donor ANG 1 22 0.0454545 11 0 NA
14-21156940-C-G c.-112C>G 5_prime_UTR_premature_start_codon_gain ANG 1 24262 4.12167E-5 12131 0 2.55004E-4
14-21156989-C-T c.-63C>T 5_prime_UTR_premature_start_codon_gain ANG 5 24258 2.06118E-4 12129 0 3.18593E-5
14-21156996-G-T c.-56G>T 5_prime_UTR_premature_start_codon_gain ANG 1 24258 4.12235E-5 12129 0 6.37308E-5
14-21157030-C-CT c.-21dupT splice_region ANG 1 24260 4.12201E-5 12130 0 NA
14-21157041-A-G c.-19+8A>G splice_region ANG 1 24256 4.12269E-5 12128 0 NA
14-21161698-C-T c.-18-8C>T splice_region ANG 2 82636 2.42025E-5 41318 0 4.04541E-6
14-21161701-C-T c.-18-5C>T splice_region ANG 1 82696 1.20925E-5 41348 0 4.97983E-5
14-21161702-G-T c.-18-4G>T splice_region ANG 2 82770 2.41633E-5 41385 0 3.18492E-5
14-21161702-G-A c.-18-4G>A splice_region ANG 4 82770 4.83267E-5 41385 0 9.55475E-5
14-21161712-G-A c.-12G>A 5_prime_UTR_premature_start_codon_gain ANG 2 83054 2.40807E-5 41527 0 1.60541E-5
14-21161726-G-A p.Met1? start_lost ANG 37 83138 4.45043E-4 41569 0 6.26566E-4
14-21161759-C-G p.Phe12Leu missense ANG 1 83328 1.20008E-5 41664 0 NA
14-21161759-C-CGTGCTG p.Val13_Leu14dup disruptive_inframe_insertion ANG 1 83328 1.20008E-5 41664 0 2.78671E-5
14-21161759-C-T p.Phe12Phe synonymous ANG 1 83328 1.20008E-5 41664 0 1.99051E-5
14-21161761-T-C p.Val13Ala missense ANG 3 83342 3.59963E-5 41671 0 6.3743E-5
14-21161767-G-T p.Gly15Val missense ANG 1 83340 1.1999E-5 41670 0 8.24402E-6
14-21161774-T-A p.Gly17Gly synonymous ANG 1 83350 1.19976E-5 41675 0 NA
14-21161776-T-TGACCCC p.Pro20_Pro21insThrPro disruptive_inframe_insertion ANG 1 83360 1.19962E-5 41680 0 3.97753E-6
14-21161779-C-A p.Thr19Asn missense ANG 1 83370 1.19947E-5 41685 0 NA
14-21161784-C-T p.Pro21Ser missense ANG 19 83384 2.27861E-4 41692 0 5.04541E-4
14-21161784-C-G p.Pro21Ala missense ANG 1 83384 1.19927E-5 41692 0 NA
14-21161785-C-A p.Pro21Gln missense ANG 1 83386 1.19924E-5 41693 0 9.88566E-5
14-21161793-G-A p.Ala24Thr missense ANG 2 83396 2.3982E-5 41698 0 NA
14-21161794-C-A p.Ala24Asp missense ANG 3 83398 3.59721E-5 41699 0 NA
14-21161811-TAC-T p.His32fs frameshift ANG 4 83400 4.79616E-5 41700 0 3.18796E-5
14-21161812-A-G p.Tyr30Cys missense ANG 2 83404 2.39797E-5 41702 0 NA
14-21161822-C-T p.Phe33Phe synonymous ANG 16 83410 1.91824E-4 41705 0 0.00125
14-21161829-C-G p.Gln36Glu missense ANG 3 83408 3.59678E-5 41704 0 3.97633E-6
14-21161831-G-A p.Gln36Gln synonymous ANG 2 83408 2.39785E-5 41704 0 3.29462E-5
14-21161833-A-G p.His37Arg missense ANG 2 83406 2.39791E-5 41703 0 1.64731E-5
14-21161840-T-TCA p.Ala40fs frameshift ANG 1 83404 1.19898E-5 41702 0 NA
14-21161845-A-T p.Lys41Ile missense ANG 77 83402 9.23239E-4 41701 0 0.001875
14-21161852-G-C p.Gln43His missense ANG 1 83408 1.19893E-5 41704 0 3.18532E-5
14-21161855-C-T p.Gly44Gly synonymous ANG 13 83402 1.55872E-4 41701 0 0.00125
14-21161856-C-T p.Arg45Trp missense ANG 3 83398 3.59721E-5 41699 0 1.9881E-5
14-21161856-C-G p.Arg45Gly missense ANG 1 83398 1.19907E-5 41699 0 1.64731E-5
14-21161872-G-A p.Cys50Tyr missense ANG 4 83402 4.79605E-5 41701 0 6.36983E-5
14-21161878-G-A p.Ser52Asn missense ANG 3 83398 3.59721E-5 41699 0 3.97627E-6
14-21161878-G-C p.Ser52Thr missense ANG 1 83398 1.19907E-5 41699 0 8.23655E-6
14-21161880-A-G p.Ile53Val missense ANG 4 83394 4.79651E-5 41697 0 3.18431E-5
14-21161893-G-A p.Arg57Gln missense ANG 1 83388 1.19921E-5 41694 0 3.18552E-5
14-21161894-G-A p.Arg57Arg synonymous ANG 1 83390 1.19918E-5 41695 0 NA
14-21161910-T-A p.Cys63Ser missense ANG 1 83398 1.19907E-5 41699 0 NA
14-21161918-C-T p.Asp65Asp synonymous ANG 2 83400 2.39808E-5 41700 0 8.23642E-6
14-21161931-A-G p.Ile70Val missense ANG 88 83404 0.00105511 41702 1 7.96229E-4
14-21161942-C-T p.Asn73Asn synonymous ANG 1 83416 1.19881E-5 41708 0 3.97624E-6
14-21161947-G-A p.Arg75His missense ANG 4 83410 4.79559E-5 41705 0 1.59256E-4
14-21161955-A-G p.Lys78Glu missense ANG 12 83406 1.43875E-4 41703 0 2.14147E-4
14-21161958-G-T p.Ala79Ser missense ANG 1 83402 1.19901E-5 41701 0 3.97621E-6
14-21161973-A-G p.Lys84Glu missense ANG 169 83408 0.00202618 41704 1 0.0038535
14-21161984-C-A p.Asn87Lys missense ANG 3 83400 3.59712E-5 41700 0 8.23642E-6
14-21161987-T-G p.Pro88Pro synonymous ANG 1 83402 1.19901E-5 41701 0 3.18471E-5
14-21161990-C-T p.His89His synonymous ANG 2 83398 2.39814E-5 41699 0 NA
14-21162035-T-C p.Thr104Thr synonymous ANG 1 83394 1.19913E-5 41697 0 NA
14-21162041-G-A p.Lys106Lys synonymous ANG 1 83392 1.19916E-5 41696 0 3.97621E-6
14-21162042-C-T p.Leu107Leu synonymous ANG 1 83390 1.19918E-5 41695 0 3.97621E-6
14-21162047-T-C p.His108His synonymous ANG 1 83392 1.19916E-5 41696 0 NA
14-21162053-T-G p.Gly110Gly synonymous ANG 11484 83292 0.137876 41646 853 0.199375
14-21162059-C-T p.Pro112Pro synonymous ANG 1 83390 1.19918E-5 41695 0 NA
14-21162068-A-G p.Pro115Pro synonymous ANG 1 83390 1.19918E-5 41695 0 1.19287E-5
14-21162075-T-A p.Tyr118Asn missense ANG 7 83388 8.39449E-5 41694 0 NA
14-21162078-C-G p.Arg119Gly missense ANG 1 83392 1.19916E-5 41696 0 7.95267E-6
14-21162079-G-T p.Arg119Leu missense ANG 2 83398 2.39814E-5 41699 0 6.37389E-5
14-21162079-G-A p.Arg119Gln missense ANG 1 83398 1.19907E-5 41699 0 8.23642E-6
14-21162086-A-T p.Thr121Thr synonymous ANG 634 83390 0.00760283 41695 16 0.0161128
14-21162088-C-T p.Ala122Val missense ANG 1 83398 1.19907E-5 41699 0 4.11834E-5
14-21162089-G-A p.Ala122Ala synonymous ANG 1 83394 1.19913E-5 41697 0 1.64728E-5
14-21162090-G-A p.Gly123Arg missense ANG 1 83396 1.1991E-5 41698 0 3.97627E-6
14-21162091-G-C p.Gly123Ala missense ANG 8 83396 9.59279E-5 41698 0 9.94067E-5
14-21162093-T-A p.Phe124Ile missense ANG 1 83392 1.19916E-5 41696 0 4.94185E-5
14-21162102-G-A p.Val127Ile missense ANG 1 83394 1.19913E-5 41697 0 6.25E-4
14-21162111-G-C p.Ala130Pro missense ANG 1 83392 1.19916E-5 41696 0 8.23642E-6
14-21162130-C-T p.Pro136Leu missense ANG 1 83382 1.1993E-5 41691 0 1.64734E-5
14-21162140-G-C p.Leu139Phe missense ANG 2 83378 2.39871E-5 41689 0 NA
14-21162157-G-A p.Arg145His missense ANG 1 83342 1.19988E-5 41671 0 5.03525E-4
14-21162159-C-T p.Arg146Cys missense ANG 4 83332 4.80008E-5 41666 0 5.03525E-4
14-21162163-C-T p.Pro147Leu missense ANG 1 83324 1.20013E-5 41662 0 3.18695E-5