Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
19-11348212-C-T c.-39C>T 5_prime_UTR_premature_start_codon_gain C19orf80 19 81674 2.32632E-4 40837 0 0.00235469
19-11348213-G-A c.-38G>A 5_prime_UTR_premature_start_codon_gain C19orf80 391 81640 0.00478932 40820 4 0.0101798
19-11348256-GT-CA c.-1+6_-1+7delGTinsCA splice_region C19orf80 3 80248 3.73841E-5 40124 0 NA
19-11348257-T-C c.-1+7T>C splice_region C19orf80 1 80156 1.24757E-5 40078 0 NA
19-11350319-AG-A p.Val3fs frameshift C19orf80 1 81484 1.22723E-5 40742 0 NA
19-11350319-AGTGCCTGCTCT-A p.Cys7fs frameshift C19orf80 6 81484 7.36341E-5 40742 0 8.40661E-6
19-11350326-G-A p.Ala5Thr missense C19orf80 909 81452 0.0111599 40726 14 0.0246607
19-11350326-GCT-G p.Leu6fs frameshift C19orf80 1 81534 1.22648E-5 40767 0 NA
19-11350331-G-A p.Leu6Leu synonymous C19orf80 1 81554 1.22618E-5 40777 0 NA
19-11350340-C-G p.Leu9Leu synonymous C19orf80 17357 80540 0.215508 40270 2919 0.317361
19-11350345-C-A p.Ala11Asp missense C19orf80 12 81574 1.47106E-4 40787 0 5.06586E-4
19-11350356-G-A p.Val15Met missense C19orf80 1 81622 1.22516E-5 40811 0 NA
19-11350362-C-T p.Arg17Trp missense C19orf80 3 81614 3.67584E-5 40807 0 4.23815E-5
19-11350363-G-A p.Arg17Gln missense C19orf80 2 81652 2.44942E-5 40826 0 7.62764E-5
19-11350365-C-T p.Pro18Ser missense C19orf80 1 81670 1.22444E-5 40835 0 NA
19-11350375-C-T p.Ala21Val missense C19orf80 3 81720 3.67107E-5 40860 0 6.86012E-5
19-11350376-G-A p.Ala21Ala synonymous C19orf80 5 81716 6.11875E-5 40858 0 8.64723E-5
19-11350377-GCCC-G p.Pro23del conservative_inframe_deletion C19orf80 1 81692 1.22411E-5 40846 0 6.37267E-5
19-11350388-C-T p.Gly25Gly synonymous C19orf80 6 81716 7.3425E-5 40858 0 6.37105E-5
19-11350389-G-A p.Gly26Ser missense C19orf80 55 81738 6.72882E-4 40869 1 0.0015614
19-11350390-G-A p.Gly26Asp missense C19orf80 1 81732 1.22351E-5 40866 0 0.00151976
19-11350392-C-T p.Pro27Ser missense C19orf80 1 81778 1.22282E-5 40889 0 8.88494E-6
19-11350399-T-C p.Leu29Pro missense C19orf80 1 81804 1.22243E-5 40902 0 4.04305E-6
19-11350425-C-T p.Leu38Phe missense C19orf80 2 81902 2.44194E-5 40951 0 NA
19-11350433-T-C p.His40His synonymous C19orf80 982 81944 0.0119838 40972 26 0.0248358
19-11350458-C-A p.Leu49Ile missense C19orf80 1 81990 1.21966E-5 40995 0 4.1784E-6
19-11350463-C-T p.Asn50Asn synonymous C19orf80 6 81996 7.31743E-5 40998 0 1.82686E-4
19-11350464-G-A p.Gly51Ser missense C19orf80 11 82032 1.34094E-4 41016 0 4.77981E-4
19-11350464-G-T p.Gly51Cys missense C19orf80 1 82032 1.21904E-5 41016 0 3.18654E-5
19-11350468-T-C p.Val52Ala missense C19orf80 3 82008 3.65818E-5 41004 0 1.1599E-5
19-11350474-G-A p.Arg54Lys missense C19orf80 1 82008 1.21939E-5 41004 0 3.61699E-5
19-11350477-C-T p.Thr55Ile missense C19orf80 1 81990 1.21966E-5 40995 0 NA
19-11350480-C-T p.Thr56Met missense C19orf80 1 81978 1.21984E-5 40989 0 4.94609E-5
19-11350481-G-A p.Thr56Thr synonymous C19orf80 14 81974 1.70786E-4 40987 0 5.04541E-4
19-11350482-G-C p.Glu57Gln missense C19orf80 1 81988 1.21969E-5 40994 0 NA
19-11350488-C-T p.Arg59Trp missense C19orf80 6546 81850 0.0799756 40925 437 0.134937
19-11350503-A-T p.Arg64Trp missense C19orf80 1 81898 1.22103E-5 40949 0 NA
19-11350513-T-C p.Leu67Pro missense C19orf80 2 81848 2.44355E-5 40924 0 NA
19-11350528-G-A p.Arg72His missense C19orf80 2 81664 2.44906E-5 40832 0 1.02895E-4
19-11350533-A-G p.Ile74Val missense C19orf80 2 81636 2.4499E-5 40818 0 NA
19-11350534-T-C p.Ile74Thr missense C19orf80 2 81616 2.4505E-5 40808 0 1.55979E-4
19-11350536-GA-G p.Glu75fs frameshift C19orf80 6 81584 7.35438E-5 40792 0 1.05285E-4
19-11350560-C-T p.Arg83Trp missense C19orf80 61 81080 7.52343E-4 40540 0 0.00253293
19-11350561-G-A p.Arg83Gln missense C19orf80 1 81100 1.23305E-5 40550 0 5.06586E-4
19-11350566-C-T p.Arg85Trp missense C19orf80 6 81040 7.40375E-5 40520 0 0.00152284
19-11350567-G-A p.Arg85Gln missense C19orf80 10 81020 1.23426E-4 40510 0 0.0020284
19-11350587-C-T p.Arg92Trp missense C19orf80 6 80552 7.4486E-5 40276 0 3.18695E-5
19-11350588-G-T p.Arg92Leu missense C19orf80 1 80488 1.24242E-5 40244 0 NA
19-11350588-G-C p.Arg92Pro missense C19orf80 1 80488 1.24242E-5 40244 0 4.97919E-6
19-11350588-G-A p.Arg92Gln missense C19orf80 1 80488 1.24242E-5 40244 0 4.97919E-6
19-11350591-C-A p.Ala93Glu missense C19orf80 1 80384 1.24403E-5 40192 0 NA
19-11350594-G-T p.Ser94Ile missense C19orf80 2 80344 2.4893E-5 40172 0 NA
19-11350601-G-A p.Leu96Leu synonymous C19orf80 12 80172 1.49678E-4 40086 0 6.68717E-5
19-11350606-C-T p.Thr98Ile missense C19orf80 1 80030 1.24953E-5 40015 0 NA
19-11350611-G-A c.297+1G>A splice_donor C19orf80 4 79944 5.0035E-5 39972 0 5.51116E-5
19-11350803-T-C c.298-8T>C splice_region C19orf80 2 81134 2.46506E-5 40567 0 NA
19-11350815-A-C p.Glu101Ala missense C19orf80 1 81240 1.23092E-5 40620 0 NA
19-11350817-G-A p.Glu102Lys missense C19orf80 3 81262 3.69176E-5 40631 0 5.25818E-5
19-11350838-G-T p.Ala109Ser missense C19orf80 2 81334 2.459E-5 40667 0 NA
19-11350844-G-A p.Ala111Thr missense C19orf80 1 81338 1.22944E-5 40669 0 NA
19-11350852-T-A p.Ala113Ala synonymous C19orf80 2 81384 2.45749E-5 40692 0 7.63233E-5
19-11350874-C-T p.Gln121* stop_gained C19orf80 69 81422 8.47437E-4 40711 0 0.00375
19-11350877-G-C p.Ala122Pro missense C19orf80 15 81430 1.84207E-4 40715 0 6.63522E-5
19-11350881-A-G p.Gln123Arg missense C19orf80 1 81456 1.22766E-5 40728 0 3.18593E-5
19-11350891-AC-A p.Arg127fs frameshift C19orf80 3 81456 3.68297E-5 40728 0 5.65854E-6
19-11350892-CG-C p.Asp128fs frameshift C19orf80 2 81458 2.45525E-5 40729 0 8.74738E-5
19-11350892-C-A p.Arg127Arg synonymous C19orf80 1 81458 1.22763E-5 40729 0 0.0025
19-11350892-C-T p.Arg127Trp missense C19orf80 1 81458 1.22763E-5 40729 0 0.00201816
19-11350893-G-A p.Arg127Gln missense C19orf80 1 81462 1.22757E-5 40731 0 1.72399E-4
19-11350897-C-G p.Asp128Glu missense C19orf80 2 81456 2.45531E-5 40728 0 1.26167E-4
19-11350900-C-T p.Ser129Ser synonymous C19orf80 1 81444 1.22784E-5 40722 0 4.13223E-5
19-11350901-G-A p.Val130Met missense C19orf80 15 81462 1.84135E-4 40731 0 0.00100908
19-11350904-C-T p.Gln131* stop_gained C19orf80 4 81466 4.91002E-5 40733 0 2.232E-4
19-11350907-C-T p.Arg132Trp missense C19orf80 5 81478 6.13663E-5 40739 0 1.17444E-4
19-11350908-G-A p.Arg132Gln missense C19orf80 5 81476 6.13678E-5 40738 0 1.53929E-4
19-11350909-G-A p.Arg132Arg synonymous C19orf80 1 81486 1.2272E-5 40743 0 NA
19-11350912-A-G p.Leu133Leu synonymous C19orf80 1 81476 1.22736E-5 40738 0 3.18756E-5
19-11350918-C-G p.Val135Val synonymous C19orf80 2 81476 2.45471E-5 40738 0 NA
19-11350930-C-A p.Ser139Arg missense C19orf80 4 81480 4.90918E-5 40740 0 3.42302E-5
19-11350930-C-T p.Ser139Ser synonymous C19orf80 6 81480 7.36377E-5 40740 0 2.39611E-4
19-11350931-G-A p.Ala140Thr missense C19orf80 10 81486 1.2272E-4 40743 0 5.82152E-4
19-11350937-C-G p.Leu142Val missense C19orf80 16 81502 1.96314E-4 40751 0 3.02297E-4
19-11350952-C-T p.Arg147* stop_gained C19orf80 5 81420 6.141E-5 40710 0 1.32908E-4
19-11350953-G-A p.Arg147Gln missense C19orf80 221 81400 0.00271499 40700 0 0.00548644
19-11352114-C-T c.460-7C>T splice_region C19orf80 1 79094 1.26432E-5 39547 0 1.09278E-4
19-11352120-G-A c.460-1G>A splice_acceptor C19orf80 4 79524 5.02993E-5 39762 0 2.5894E-5
19-11352150-A-G p.Leu163Leu synonymous C19orf80 7 80804 8.66294E-5 40402 0 1.04243E-4
19-11352168-C-A p.His169Gln missense C19orf80 1 81008 1.23445E-5 40504 0 NA
19-11352168-C-T p.His169His synonymous C19orf80 4 81008 4.93778E-5 40504 0 0.00154799
19-11352169-G-A p.Val170Met missense C19orf80 60 81016 7.40594E-4 40508 1 0.006875
19-11352175-C-T p.Arg172Trp missense C19orf80 13 81048 1.60399E-4 40524 0 4.31193E-4
19-11352176-G-A p.Arg172Gln missense C19orf80 1 81066 1.23356E-5 40533 0 6.3743E-5
19-11352178-C-T p.Gln173* stop_gained C19orf80 1 81072 1.23347E-5 40536 0 6.37723E-6
19-11352184-C-T p.Arg175Trp missense C19orf80 10 81052 1.23378E-4 40526 0 9.56145E-5
19-11352185-G-A p.Arg175Gln missense C19orf80 1 81052 1.23378E-5 40526 0 1.92025E-5
19-11352189-G-A p.Glu176Glu synonymous C19orf80 1 80634 1.24017E-5 40317 0 NA
19-11352193-G-T p.Val178Leu missense C19orf80 1 80680 1.23946E-5 40340 0 6.39582E-6
19-11352209-G-A p.Arg183Gln missense C19orf80 1 80828 1.2372E-5 40414 0 1.27885E-5
19-11352212-T-A p.Leu184Gln missense C19orf80 7 80812 8.66208E-5 40406 0 3.18695E-5
19-11352213-G-T p.Leu184Leu synonymous C19orf80 1 80794 1.23772E-5 40397 0 NA
19-11352214-C-T p.Arg185* stop_gained C19orf80 3 80766 3.71443E-5 40383 0 5.21376E-5
19-11352215-G-A p.Arg185Gln missense C19orf80 2 80814 2.47482E-5 40407 0 5.08182E-5
19-11352219-G-A p.Gln186Gln synonymous C19orf80 1 80908 1.23597E-5 40454 0 6.37146E-5
19-11352226-G-A p.Glu189Lys missense C19orf80 3 81028 3.70242E-5 40514 0 3.18512E-5
19-11352235-G-A c.569+5G>A splice_region C19orf80 2 81048 2.46767E-5 40524 0 1.49536E-4
19-11352237-C-G c.569+7C>G splice_region C19orf80 1 81080 1.23335E-5 40540 0 NA
19-11352329-TC-T c.570-6delC splice_region C19orf80 2 81052 2.46755E-5 40526 0 3.22414E-5
19-11352333-C-T c.570-3C>T splice_region C19orf80 1 81062 1.23362E-5 40531 0 NA
19-11352342-C-T p.His192His synonymous C19orf80 1 81014 1.23435E-5 40507 0 NA
19-11352347-C-T p.Ala194Val missense C19orf80 15 80922 1.85364E-4 40461 0 0.00175168
19-11352350-C-T p.Ala195Val missense C19orf80 3 80860 3.71012E-5 40430 0 2.93479E-5
19-11352351-G-A p.Ala195Ala synonymous C19orf80 3 80814 3.71223E-5 40407 0 8.78426E-5
19-11352355-C-A p.Pro197Thr missense C19orf80 1 80840 1.23701E-5 40420 0 NA