regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP7A_chrX_77905693_78055395 | 78042116 | C | CAAA | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00544.hp2 others(68): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0003a0002c0002t0002a0002c0002t0003others(10): Show | a0001c0001t0003g0015a0001c0001t0003g0016a0002c0002t0002g0023others(68): Show | 71 | 233 | 0.3047 | 3 | c.380 others(20): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ATP7A_chrX_77905693_78055395 | 78044255 | C | CAAA | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00544.hp2 others(77): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0003a0002c0002t0002a0002c0002t0003others(10): Show | a0001c0001t0003g0015a0001c0001t0003g0016a0002c0002t0002g0023others(76): Show | 80 | 233 | 0.3434 | 3 | c.412 others(20): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ATP7A_chrX_77905693_78055395 | 78047554 | T | TTTG | 3_prime_UTR_variant | MODIFIER | HG03516.hp2 | a0002 | a0002c0002 | a0002c0002t0015 | a0002c0002t0015g0009 | 1 | 233 | 0.0043 | 3 | c.*10 others(14): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 23/23 | 1018 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||
ATP7B_chr13_51927669_52016450 | 51953851 | T | TAAA | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp1 HG00733.hp1 others(12): Show |
a0003a0014 | a0003c0003a0014c0024 | a0003c0003t0004a0003c0003t0016a0003c0003t0021others(1): Show | a0003c0003t0004g0037a0003c0003t0004g0125a0003c0003t0004g0130others(12): Show | 15 | 302 | 0.0497 | 3 | c.244 others(22): Show |
ATP7B | ENSG00000123191.17 | transcript | ENST00000242839.10 | protein_coding | 9/20 | chr13 | TogoVar | ||||||
ATP7B_chr13_51927669_52016450 | 51982005 | A | ATTT | intron_variant | MODIFIER | HG00544.hp2 HG01099.hp1 HG02922.hp2 others(8): Show |
a0003a0007 | a0003c0005a0007c0008 | a0003c0005t0004a0003c0005t0010a0003c0005t0012others(2): Show | a0003c0005t0004g0022a0003c0005t0004g0023a0003c0005t0004g0024others(8): Show | 11 | 302 | 0.0364 | 3 | c.52- others(18): Show |
ATP7B | ENSG00000123191.17 | transcript | ENST00000242839.10 | protein_coding | 1/20 | chr13 | TogoVar | ||||||
ATP7B_chr13_51927669_52016450 | 51992979 | C | CAAA | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG01358.hp1 others(18): Show |
a0001a0002a0003others(4): Show | a0001c0025a0002c0002a0003c0003others(6): Show | a0001c0025t0003a0002c0002t0002a0002c0002t0007others(7): Show | a0001c0025t0003g0147a0002c0002t0002g0063a0002c0002t0002g0064others(18): Show | 21 | 302 | 0.0695 | 3 | c.52- others(20): Show |
ATP7B | ENSG00000123191.17 | transcript | ENST00000242839.10 | protein_coding | 1/20 | chr13 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42439066 | T | TTAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(301): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(62): Show | a0001c0001t0001g0027a0001c0001t0001g0046a0001c0001t0001g0047others(301): Show | 304 | 310 | 0.9807 | 3 | c.312 others(22): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 33/36 | chr4 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42446080 | C | CAAA | intron_variant | MODIFIER | HG00423.hp2 HG02145.hp2 HG02451.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0006a0001c0002t0002a0001c0002t0003others(6): Show | a0001c0001t0006g0210a0001c0001t0006g0252a0001c0002t0002g0029others(10): Show | 13 | 310 | 0.0419 | 3 | c.295 others(20): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 31/36 | chr4 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42494162 | C | CAAA | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp2 HG00735.hp2 others(30): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0050a0001c0001t0001g0065a0001c0001t0001g0067others(30): Show | 33 | 310 | 0.1065 | 3 | c.215 others(22): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 24/36 | chr4 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42507729 | C | CAAA | intron_variant | MODIFIER | HG01069.hp2 HG01106.hp2 HG01109.hp2 others(23): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(10): Show | a0001c0001t0001g0050a0001c0001t0001g0055a0001c0001t0001g0078others(23): Show | 26 | 310 | 0.0839 | 3 | c.194 others(20): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 22/36 | chr4 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42507780 | T | TAAA | intron_variant | MODIFIER | HG00738.hp1 HG01074.hp1 HG01123.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(9): Show | a0001c0001t0001g0047a0001c0001t0001g0048a0001c0001t0001g0129others(15): Show | 18 | 310 | 0.0581 | 3 | c.194 others(20): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 22/36 | chr4 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42555139 | A | ATCT | intron_variant | MODIFIER | HG01169.hp1 HG01361.hp1 HG01928.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0048a0001c0001t0001g0128a0001c0001t0002g0104others(6): Show | 9 | 310 | 0.0290 | 3 | c.141 others(20): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 16/36 | chr4 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42555210 | G | GCCC | intron_variant | MODIFIER | HG01106.hp2 HG02155.hp2 HG02717.hp1 others(12): Show |
a0001 | a0001c0002a0001c0003a0001c0004 | a0001c0002t0005a0001c0003t0002a0001c0003t0005others(4): Show | a0001c0002t0005g0189a0001c0003t0002g0168a0001c0003t0002g0169others(12): Show | 15 | 310 | 0.0484 | 3 | c.141 others(20): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 16/36 | chr4 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42576475 | C | CAAA | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01071.hp2 others(9): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0027a0001c0001t0002g0014a0001c0001t0003g0204others(9): Show | 12 | 310 | 0.0387 | 3 | c.112 others(20): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 12/36 | chr4 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42583181 | T | TCTA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(295): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(59): Show | a0001c0001t0001g0027a0001c0001t0001g0046a0001c0001t0001g0047others(295): Show | 298 | 310 | 0.9613 | 3 | c.723 others(20): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 9/36 | chr4 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42601033 | C | CTTT | intron_variant | MODIFIER | HG01358.hp2 HG01952.hp1 HG02559.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(8): Show | a0001c0001t0001g0062a0001c0001t0009g0278a0001c0001t0010g0291others(10): Show | 13 | 310 | 0.0419 | 3 | c.410 others(18): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 5/36 | chr4 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42612106 | T | TAAA | intron_variant | MODIFIER | HG00280.hp1 HG00733.hp1 HG01069.hp1 others(43): Show |
a0001a0005a0006 | a0001c0001a0001c0002a0005c0010others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0027a0001c0001t0001g0055a0001c0001t0002g0015others(43): Show | 46 | 310 | 0.1484 | 3 | c.409 others(20): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 5/36 | chr4 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25385916 | A | ATTT | intron_variant | MODIFIER | HG02886.hp2 HG02896.hp2 NA19030.hp1 others(1): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0008a0001c0001t0064a0001c0008t0013others(1): Show | a0001c0001t0008g0073a0001c0001t0064g0072a0001c0008t0013g0074others(1): Show | 4 | 122 | 0.0328 | 3 | c.76+ others(20): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25408080 | A | ATAT | intron_variant | MODIFIER | HG02630.hp1 HG02723.hp2 HG03098.hp1 others(1): Show |
a0001 | a0001c0001a0001c0007a0001c0017 | a0001c0001t0009a0001c0001t0074a0001c0007t0007others(1): Show | a0001c0001t0009g0065a0001c0001t0074g0116a0001c0007t0007g0094others(1): Show | 4 | 122 | 0.0328 | 3 | c.76+ others(20): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 1/36 | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25410010 | G | GTGA | intron_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG00738.hp1 others(118): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(105): Show | a0001c0001t0001g0036a0001c0001t0002g0079a0001c0001t0003g0093others(118): Show | 121 | 122 | 0.9918 | 3 | c.76+ others(20): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25461843 | G | GAGA | intron_variant | MODIFIER | HG01109.hp1 HG02622.hp1 HG02723.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0064a0001c0002t0001a0001c0002t0003others(3): Show | a0001c0001t0064g0072a0001c0002t0001g0035a0001c0002t0003g0088others(4): Show | 7 | 122 | 0.0574 | 3 | c.77- others(18): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25461852 | A | AAGG | intron_variant | MODIFIER | HG00738.hp2 HG01069.hp1 HG01071.hp1 others(26): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0008a0001c0001t0010a0001c0001t0013others(24): Show | a0001c0001t0008g0073a0001c0001t0010g0100a0001c0001t0013g0005others(26): Show | 29 | 122 | 0.2377 | 3 | c.77- others(18): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25463124 | G | GTTT | intron_variant | MODIFIER | HG01070.hp1 HG01070.hp2 HG01071.hp2 others(29): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0011others(25): Show | a0001c0001t0002g0079a0001c0001t0004g0046a0001c0001t0011g0062others(29): Show | 32 | 122 | 0.2623 | 3 | c.77- others(18): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25464446 | T | TAAA | intron_variant | MODIFIER | HG00642.hp1 HG00741.hp1 HG01243.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0011others(12): Show | a0001c0001t0001g0036a0001c0001t0009g0065a0001c0001t0011g0061others(12): Show | 15 | 122 | 0.1230 | 3 | c.77- others(18): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25494457 | A | ATGC | intron_variant | MODIFIER | NA18952.hp1 NA18952.hp2 |
a0001 | a0001c0003 | a0001c0003t0007a0001c0003t0027 | a0001c0003t0007g0109a0001c0003t0027g0047 | 2 | 122 | 0.0164 | 3 | c.221 others(22): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25504746 | C | CAAA | intron_variant | MODIFIER | HG00738.hp1 HG00738.hp2 HG01070.hp2 others(27): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0008others(25): Show | a0001c0001t0004g0040a0001c0001t0004g0046a0001c0001t0005g0102others(27): Show | 30 | 122 | 0.2459 | 3 | c.222 others(22): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25516783 | C | CTTT | intron_variant | MODIFIER | HG00642.hp2 HG01069.hp1 HG01071.hp1 others(9): Show |
a0001 | a0001c0004a0001c0006a0001c0017 | a0001c0004t0002a0001c0004t0003a0001c0004t0004others(8): Show | a0001c0004t0002g0049a0001c0004t0002g0080a0001c0004t0003g0007others(9): Show | 12 | 122 | 0.0984 | 3 | c.222 others(22): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25558348 | G | GAAT | intron_variant | MODIFIER | HG01261.hp2 HG02257.hp2 HG02896.hp2 others(4): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0009a0001c0001t0017a0001c0001t0026others(4): Show | a0001c0001t0009g0065a0001c0001t0017g0051a0001c0001t0026g0090others(4): Show | 7 | 122 | 0.0574 | 3 | c.126 others(20): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 13/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25610883 | C | CTTT | intron_variant | MODIFIER | HG02647.hp1 HG02965.hp1 HG02976.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0030a0001c0001t0041a0001c0001t0046others(2): Show | a0001c0001t0030g0087a0001c0001t0041g0044a0001c0001t0046g0045others(2): Show | 5 | 122 | 0.0410 | 3 | c.221 others(24): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 24/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25641853 | A | ATAC | intron_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG00738.hp1 others(107): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(94): Show | a0001c0001t0001g0036a0001c0001t0002g0079a0001c0001t0003g0093others(107): Show | 110 | 122 | 0.9016 | 3 | c.221 others(24): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 24/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25641854 | T | TACC | intron_variant | MODIFIER | HG02559.hp1 HG02622.hp2 HG02630.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0010a0001c0002t0005a0001c0002t0032others(3): Show | a0001c0001t0010g0100a0001c0002t0005g0034a0001c0002t0032g0023others(3): Show | 6 | 122 | 0.0492 | 3 | c.221 others(24): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 24/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25646671 | A | AAAC | intron_variant | MODIFIER | HG00738.hp2 HG01069.hp2 HG01070.hp1 others(43): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0004a0001c0001t0009a0001c0001t0010others(39): Show | a0001c0001t0004g0040a0001c0001t0004g0046a0001c0001t0009g0065others(43): Show | 46 | 122 | 0.3771 | 3 | c.221 others(24): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 24/36 | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25697268 | T | TTTG | intron_variant | MODIFIER | HG00642.hp1 HG00738.hp1 HG00741.hp2 others(37): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(33): Show | a0001c0001t0001g0036a0001c0001t0002g0079a0001c0001t0005g0102others(37): Show | 40 | 122 | 0.3279 | 3 | c.221 others(22): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 24/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25731147 | A | AAAG | intron_variant | MODIFIER | HG02976.hp2 HG03130.hp1 NA18906.hp2 |
a0001 | a0001c0001a0001c0018 | a0001c0001t0025a0001c0001t0030a0001c0018t0024 | a0001c0001t0025g0009a0001c0001t0030g0087a0001c0018t0024g0066 | 3 | 122 | 0.0246 | 3 | c.238 others(24): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 25/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25762268 | C | CAAA | intron_variant | MODIFIER | HG00741.hp2 HG01069.hp2 HG01070.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0004a0001c0001t0010a0001c0001t0030others(12): Show | a0001c0001t0004g0046a0001c0001t0010g0100a0001c0001t0030g0087others(14): Show | 17 | 122 | 0.1393 | 3 | c.238 others(22): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 25/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25783060 | A | ATTT | intron_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG00738.hp1 others(118): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(105): Show | a0001c0001t0001g0036a0001c0001t0002g0079a0001c0001t0003g0093others(118): Show | 121 | 122 | 0.9918 | 3 | c.267 others(22): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 27/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25786754 | G | GATT | intron_variant | MODIFIER | HG02723.hp1 HG02809.hp2 NA18977.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0019a0001c0001t0074a0001c0002t0003others(2): Show | a0001c0001t0019g0004a0001c0001t0074g0116a0001c0002t0003g0120others(2): Show | 5 | 122 | 0.0410 | 3 | c.267 others(24): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 27/36 | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25814620 | T | TAAA | intron_variant | MODIFIER | HG01496.hp1 HG02258.hp1 HG02615.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0010a0001c0001t0066a0001c0002t0010others(8): Show | a0001c0001t0010g0100a0001c0001t0066g0092a0001c0002t0010g0118others(8): Show | 11 | 122 | 0.0902 | 3 | c.268 others(24): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 27/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25840809 | G | GTGA | intron_variant | MODIFIER | HG02055.hp1 HG02895.hp2 NA18986.hp1 others(1): Show |
a0001 | a0001c0002a0001c0003a0001c0006 | a0001c0002t0063a0001c0003t0052a0001c0003t0062others(1): Show | a0001c0002t0063g0050a0001c0003t0052g0113a0001c0003t0062g0024others(1): Show | 4 | 122 | 0.0328 | 3 | c.295 others(22): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 30/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25851582 | C | CAAA | intron_variant | MODIFIER | HG00738.hp2 HG00741.hp2 HG01261.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0018a0001c0001t0042a0001c0002t0001others(1): Show | a0001c0001t0018g0041a0001c0001t0042g0059a0001c0002t0001g0039others(1): Show | 4 | 122 | 0.0328 | 3 | c.295 others(22): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 30/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25882894 | A | AGAT | intron_variant | MODIFIER | HG00738.hp1 HG01074.hp1 HG01109.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0009a0001c0001t0015a0001c0001t0019others(7): Show | a0001c0001t0009g0065a0001c0001t0015g0016a0001c0001t0015g0082others(9): Show | 12 | 122 | 0.0984 | 3 | c.318 others(24): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 33/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25885105 | C | CTTT | intron_variant | MODIFIER | HG00642.hp2 HG01243.hp1 HG02015.hp2 others(5): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0003t0007others(4): Show | a0001c0002t0001g0032a0001c0002t0001g0035a0001c0002t0002g0037others(5): Show | 8 | 122 | 0.0656 | 3 | c.318 others(24): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 33/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25916810 | G | GGTT | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01243.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0005a0001c0001t0008a0001c0001t0016others(15): Show | a0001c0001t0005g0102a0001c0001t0008g0073a0001c0001t0016g0104others(15): Show | 18 | 122 | 0.1475 | 3 | c.318 others(24): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 33/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25966029 | G | GAAA | intron_variant | MODIFIER | HG00642.hp2 HG00738.hp2 HG00741.hp1 others(40): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0011others(35): Show | a0001c0001t0002g0079a0001c0001t0003g0093a0001c0001t0011g0061others(40): Show | 43 | 122 | 0.3525 | 3 | c.327 others(22): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 34/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25977630 | C | CTGT | intron_variant | MODIFIER | HG01496.hp1 HG02622.hp2 HG03041.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0013a0001c0002t0006a0001c0002t0032others(2): Show | a0001c0001t0013g0005a0001c0002t0006g0119a0001c0002t0032g0023others(2): Show | 5 | 122 | 0.0410 | 3 | c.337 others(22): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 35/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25990261 | T | TAAA | intron_variant | MODIFIER | HG01069.hp1 HG01070.hp2 HG01081.hp1 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0004a0001c0004t0004a0001c0004t0005 | a0001c0001t0004g0040a0001c0001t0004g0046a0001c0004t0004g0048others(1): Show | 4 | 122 | 0.0328 | 3 | c.337 others(24): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 35/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 26000700 | C | CAAA | intron_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG01069.hp1 others(35): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(31): Show | a0001c0001t0001g0036a0001c0001t0003g0093a0001c0001t0004g0040others(35): Show | 38 | 122 | 0.3115 | 3 | c.337 others(24): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 35/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 26024902 | A | AAAT | 3_prime_UTR_variant | MODIFIER | HG02976.hp2 NA19240.hp2 |
a0001 | a0001c0001a0001c0018 | a0001c0001t0024a0001c0018t0024 | a0001c0001t0024g0003a0001c0018t0024g0066 | 2 | 122 | 0.0164 | 3 | c.*49 others(14): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 37/37 | 4923 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||
ATP8A2_chr13_25366974_26030851 | 26025116 | C | CAAA | 3_prime_UTR_variant | MODIFIER | HG01261.hp2 HG01496.hp1 HG03139.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003a0001c0011others(1): Show | a0001c0001t0008a0001c0001t0017a0001c0001t0048others(3): Show | a0001c0001t0008g0073a0001c0001t0017g0051a0001c0001t0048g0122others(3): Show | 6 | 122 | 0.0492 | 3 | c.*51 others(14): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 37/37 | 5153 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||
ATP8A2_chr13_25366974_26030851 | 26026204 | G | GAGA | downstream_gene_variant | MODIFIER | HG00642.hp2 HG00738.hp1 HG00738.hp2 others(74): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(71): Show | a0001c0001t0002g0079a0001c0001t0003g0093a0001c0001t0008g0073others(74): Show | 77 | 122 | 0.6312 | 3 | c.*62 others(14): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 354 | chr13 | TogoVar |