Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
2-54198000-C-T c.-495C>T 5_prime_UTR_premature_start_codon_gain ACYP2 3 33232 9.02744E-5 16616 0 NA
2-54198008-C-T c.-487C>T 5_prime_UTR_premature_start_codon_gain ACYP2 20 32712 6.11396E-4 16356 0 1.29811E-4
2-54198099-C-G c.-396C>G 5_prime_UTR_premature_start_codon_gain ACYP2 157 16988 0.00924182 8494 0 0.0193414
2-54198152-C-A c.-343C>A 5_prime_UTR_premature_start_codon_gain ACYP2 26 11242 0.00231276 5621 0 0.00335378
2-54198458-G-GACTCA c.-37_-37+1insACTCA splice_donor ACYP2 1 58 0.0172414 29 0 NA
2-54200930-G-A p.Thr15Thr synonymous ACYP2 37 160 0.23125 80 7 0.75
2-54200944-GGAGGTACTTGGAATAAAAGGAGGGATTTTTGAATGTGGGATATATATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATTTTTTTTTTTTTTTTTTTTTTT-G p.Arg21del splice_donor ACYP2 1 244 0.00409836 122 0 NA
2-54200945-G-GAGATACA p.Arg14fs frameshift ACYP2 1 242 0.00413223 121 0 NA
2-54202403-A-T p.Asn28Ile missense ACYP2 1 914 0.00109409 457 0 0.5
2-54278133-C-T p.Thr34Ile missense ACYP2 1 16184 6.17894E-5 8092 0 6.37552E-5
2-54278150-T-TATAG p.Ser40fs frameshift ACYP2 1 18718 5.34245E-5 9359 0 NA
2-54278151-C-T p.Ser40Phe missense ACYP2 2 18874 1.05966E-4 9437 0 3.18593E-5
2-54278161-C-T p.Leu43Leu synonymous ACYP2 2 20922 9.55932E-5 10461 0 1.07043E-4
2-54278180-G-A p.Asp50Asn missense ACYP2 1 26012 3.84438E-5 13006 0 3.47415E-5
2-54278185-C-T p.Tyr51Tyr splice_region+synonymous ACYP2 1 26790 3.73274E-5 13395 0 NA
2-54278195-C-G c.155+8C>G splice_region ACYP2 3 28476 1.05352E-4 14238 0 NA
2-54284438-C-T p.Pro73Leu missense ACYP2 1 7148 1.39899E-4 3574 0 9.55657E-5
2-54284441-G-A p.Trp74* stop_gained ACYP2 739 7138 0.10353 3569 45 0.0946084
2-54292640-C-A p.Ser107Ser synonymous ACYP2 130 928 0.140086 464 15 0.5
2-54342691-G-A c.-61G>A 5_prime_UTR_premature_start_codon_gain ACYP2 1 69310 1.44279E-5 34655 0 NA
2-54342713-C-T c.-39C>T 5_prime_UTR_premature_start_codon_gain ACYP2 1 73988 1.35157E-5 36994 0 7.19197E-6
2-54342757-T-G p.Cys2Trp missense ACYP2 6 79296 7.56659E-5 39648 0 NA
2-54342757-TC-T p.Leu4fs frameshift ACYP2 1 79296 1.2611E-5 39648 0 5.857E-6
2-54342758-C-T p.Pro3Ser missense ACYP2 2 79432 2.51788E-5 39716 0 3.18674E-5
2-54342758-C-A p.Pro3Thr missense ACYP2 1 79432 1.25894E-5 39716 0 NA
2-54342765-C-T p.Pro5Leu missense ACYP2 1 80304 1.24527E-5 40152 0 NA
2-54342767-C-G p.Leu6Val missense ACYP2 1 80402 1.24375E-5 40201 0 NA
2-54342774-C-T p.Ala8Val missense ACYP2 1 80572 1.24113E-5 40286 0 NA
2-54342777-C-T p.Ala9Val missense ACYP2 1 80712 1.23897E-5 40356 0 NA
2-54342787-T-A p.Ala12Ala synonymous ACYP2 1 80894 1.23619E-5 40447 0 NA
2-54342790-G-GC p.Arg15fs frameshift ACYP2 1 80900 1.23609E-5 40450 0 NA
2-54342796-AG-A p.Ala16fs frameshift ACYP2 2 81098 2.46615E-5 40549 0 4.60087E-5
2-54342808-GCTC-G p.Leu21del conservative_inframe_deletion ACYP2 5 81338 6.14719E-5 40669 0 1.59307E-4
2-54342813-T-C p.Leu21Pro missense ACYP2 1 81486 1.2272E-5 40743 0 NA
2-54342814-C-CA p.Asn22fs frameshift ACYP2 1 81528 1.22657E-5 40764 0 1.53666E-5
2-54342815-A-T p.Asn22Tyr missense ACYP2 99 81482 0.00121499 40741 1 0.00440634
2-54342821-G-C p.Gly24Arg missense ACYP2 3 81588 3.67701E-5 40794 0 1.92535E-4
2-54342824-C-G p.Leu25Val missense ACYP2 2 81552 2.45242E-5 40776 0 NA
2-54342825-T-TCGC c.-3_-1dupGCC start_lost ACYP2 1 81560 1.22609E-5 40780 0 3.18735E-5
2-54342829-C-T c.-7C>T 5_prime_UTR_premature_start_codon_gain ACYP2 3 81750 3.66972E-5 40875 0 6.25E-4
2-54342844-C-A p.Thr31Thr synonymous ACYP2 8 82032 9.75229E-5 41016 0 2.02233E-5
2-54342845-G-A p.Ala32Thr missense ACYP2 1 82012 1.21933E-5 41006 0 6.25782E-4
2-54342846-C-G p.Ala32Gly missense ACYP2 10 82036 1.21898E-4 41018 0 5.73504E-4
2-54342846-C-T p.Ala32Val missense ACYP2 184 82032 0.00224303 41016 0 0.00541643
2-54342860-T-A p.Ser37Thr missense ACYP2 1 81892 1.22112E-5 40946 0 3.18695E-5
2-54342871-C-T p.Tyr40Tyr synonymous ACYP2 1 81878 1.22133E-5 40939 0 4.03757E-6
2-54342877-G-A p.Val42Val synonymous ACYP2 1 81784 1.22273E-5 40892 0 1.59297E-4
2-54342892-G-A p.Gln47Gln splice_region+synonymous ACYP2 1 81692 1.22411E-5 40846 0 3.03386E-5
2-54342896-A-G c.142+3A>G splice_region ACYP2 1 81544 1.22633E-5 40772 0 1.03917E-4
2-54342897-G-A c.142+4G>A splice_region ACYP2 47 81518 5.7656E-4 40759 0 0.00108315
2-54342898-G-A c.142+5G>A splice_region ACYP2 2 81526 2.45321E-5 40763 0 4.10038E-5
2-54342900-G-C c.142+7G>C splice_region ACYP2 1 81492 1.22711E-5 40746 0 3.18532E-5
2-54350353-C-T c.-168C>T 5_prime_UTR_premature_start_codon_gain ACYP2 1 46 0.0217391 23 0 0.049267
2-54350432-C-T c.-89C>T 5_prime_UTR_premature_start_codon_gain ACYP2 2 574 0.00348432 287 0 0.0113245
2-54350474-G-A c.-47G>A 5_prime_UTR_premature_start_codon_gain ACYP2 13 800 0.01625 400 2 0.0250717
2-54350530-C-T p.Leu4Phe missense ACYP2 2 878 0.0022779 439 0 0.00219759
2-54362587-C-T c.143-3C>T splice_region ACYP2 4 82226 4.86464E-5 41113 0 2.10661E-4
2-54362591-T-A p.Ser93Arg missense+splice_region ACYP2 554 82230 0.0067372 41115 14 0.0124618
2-54362604-A-G p.Met53Val missense+splice_region ACYP2 1 82246 1.21586E-5 41123 0 NA
2-54365785-G-C p.Asp57His missense ACYP2 1 83214 1.20172E-5 41607 0 NA
2-54365792-C-G p.Ala59Gly missense ACYP2 1 83230 1.20149E-5 41615 0 NA
2-54365801-T-C p.Ile62Thr missense ACYP2 1 83240 1.20135E-5 41620 0 NA
2-54365802-A-G p.Ile62Met missense ACYP2 29 83246 3.48365E-4 41623 0 9.55231E-4
2-54365805-A-G p.Gly63Gly synonymous ACYP2 2 83248 2.40246E-5 41624 0 7.96362E-6
2-54365810-T-C p.Val65Ala missense ACYP2 4 83244 4.80515E-5 41622 0 1.35376E-4
2-54365817-GGTGAAGAATACCA-G p.Val68fs frameshift ACYP2 1 83244 1.20129E-5 41622 0 8.29889E-6
2-54365818-G-C p.Val68Leu missense ACYP2 1 83250 1.2012E-5 41625 0 NA
2-54365822-A-G p.Lys69Arg missense ACYP2 2 83270 2.40183E-5 41635 0 3.1839E-5
2-54365829-C-T p.Thr71Thr synonymous ACYP2 14 83278 1.68112E-4 41639 0 4.45888E-4
2-54365832-C-G p.Ser72Arg missense ACYP2 4 83278 4.80319E-5 41639 0 3.18431E-5
2-54365838-C-T p.Gly74Gly synonymous ACYP2 8 83282 9.60592E-5 41641 0 1.59236E-4
2-54365841-C-T p.Thr75Thr synonymous ACYP2 12 83270 1.4411E-4 41635 0 6.25E-4
2-54365842-G-A p.Val76Met missense ACYP2 4 83282 4.80296E-5 41641 0 3.31713E-5
2-54365846-C-T p.Thr77Ile missense ACYP2 1 83286 1.20068E-5 41643 0 3.98064E-6
2-54365862-GC-G p.Pro83fs frameshift ACYP2 1 83300 1.20048E-5 41650 0 NA
2-54365863-C-T p.Pro83Ser missense ACYP2 1 83292 1.2006E-5 41646 0 8.32667E-6
2-54365865-A-G p.Pro83Pro synonymous ACYP2 1 83292 1.2006E-5 41646 0 1.19612E-5
2-54365868-AGACAAAG-A p.Asp85fs frameshift ACYP2 1 83296 1.20054E-5 41648 0 NA
2-54365876-T-TTTA p.Val87_Asn88insTyr disruptive_inframe_insertion ACYP2 1 83284 1.20071E-5 41642 0 NA
2-54365877-C-G p.Val87Val synonymous ACYP2 1 83286 1.20068E-5 41643 0 1.20542E-5
2-54365878-AAT-TAC p.Asn88Tyr missense ACYP2 1 83286 1.20068E-5 41643 0 NA
2-54365882-C-T p.Ser89Phe missense ACYP2 38 83264 4.5638E-4 41632 0 1.91882E-4
2-54365888-G-A c.269+3G>A splice_region ACYP2 1 83226 1.20155E-5 41613 0 NA
2-54369033-G-T p.Gly95Cys missense ACYP2 1 47056 2.12513E-5 23528 0 NA
2-54369040-T-C p.Ile97Thr missense ACYP2 64 46742 0.00136922 23371 0 0.00487665
2-54494427-T-TA c.270-6_270-5insA splice_region ACYP2 1 51520 1.94099E-5 25760 0 1.37802E-5
2-54494442-A-G p.Ser93Ser synonymous ACYP2 9 51538 1.74628E-4 25769 0 9.5511E-5
2-54494448-G-A p.Pro95Pro synonymous ACYP2 9269 51320 0.180612 25660 897 0.22954
2-54494448-G-C p.Pro95Pro synonymous ACYP2 1 51514 1.94122E-5 25757 0 NA
2-54494451-A-T p.Glu96Asp missense ACYP2 5 51526 9.70384E-5 25763 0 6.84838E-5
2-54494458-T-C p.Ter99Argext*? stop_lost ACYP2 2 51512 3.88259E-5 25756 0 6.89665E-6
2-54494459-G-T p.Ter99Leuext*? stop_lost ACYP2 1 51518 1.94107E-5 25759 0 6.89665E-6
2-54494500-C-T c.*40C>T splice_region ACYP2 1 51418 1.94484E-5 25709 0 6.96389E-6
2-54531823-A-T c.*43-2A>T splice_acceptor ACYP2 2 82610 2.42101E-5 41305 0 6.52369E-5
2-54531837-G-A p.Leu66Leu synonymous ACYP2 1 82828 1.20732E-5 41414 0 5.85745E-5
2-54531840-C-T p.Ser67Ser synonymous ACYP2 2 82826 2.4147E-5 41413 0 3.18695E-5
2-54531848-G-A p.Gly70Glu missense ACYP2 1 82876 1.20662E-5 41438 0 NA
2-54531849-A-G p.Gly70Gly synonymous ACYP2 1 82866 1.20677E-5 41433 0 NA
2-54531852-C-G p.Ser71Arg missense ACYP2 1 82846 1.20706E-5 41423 0 9.5645E-5
2-54531856-A-T p.Ser73Cys missense ACYP2 1 82882 1.20653E-5 41441 0 8.3091E-6
2-54531863-G-A p.Arg75His missense ACYP2 2 82858 2.41377E-5 41429 0 1.1955E-5
2-54531865-A-G p.Ile76Val missense ACYP2 2 82884 2.41301E-5 41442 0 1.2747E-4
2-54531866-T-C p.Ile76Thr missense ACYP2 2 82884 2.41301E-5 41442 0 3.18573E-5
2-54531871-C-T p.Arg78Cys missense ACYP2 4 82846 4.82824E-5 41423 0 0.00151057
2-54531879-C-A p.Asn80Lys missense ACYP2 6 82802 7.2462E-5 41401 0 1.99167E-4
2-54531881-T-C p.Phe81Ser missense ACYP2 1 82788 1.2079E-5 41394 0 NA
2-54531895-AC-A p.Ile87fs frameshift ACYP2 1 82706 1.2091E-5 41353 0 NA
2-54531896-C-A p.Thr86Asn missense ACYP2 18 82706 2.17638E-4 41353 0 5.03525E-4
2-54531915-C-T p.Tyr92Tyr synonymous ACYP2 2 82420 2.4266E-5 41210 0 3.99936E-6
2-54531917-C-G p.Ser93Cys missense ACYP2 3 82400 3.64078E-5 41200 0 1.76451E-5
2-54531932-G-A p.Arg98Lys missense ACYP2 2 82104 2.43593E-5 41052 0 9.67904E-6
2-54531995-A-G c.*56A>G splice_region ACYP2 17 78190 2.17419E-4 39095 0 8.84956E-4
2-54532154-C-A c.*215C>A splice_region ACYP2 1 50484 1.98083E-5 25242 0 NA
2-54532155-A-G c.*216A>G splice_region ACYP2 5 50362 9.92812E-5 25181 0 NA
2-54532163-A-G c.*381A>G splice_region ACYP2 887 49366 0.0179678 24683 15 0.0160838