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 | 77987457 | T | TGTGC | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00544.hp2 others(48): Show |
a0002a0003a0009 | a0002c0002a0003c0003a0009c0010 | a0002c0002t0002a0002c0002t0003a0002c0002t0006others(6): Show | a0002c0002t0002g0023a0002c0002t0002g0037a0002c0002t0002g0040others(47): Show | 51 | 233 | 0.2189 | 4 | c.121 others(19): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ATP7A_chrX_77905693_78055395 | 78002799 | T | TACAC | intron_variant | MODIFIER | HG00558.hp1 HG02602.hp1 HG03041.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0001g0100a0001c0001t0001g0139a0001c0001t0001g0199others(6): Show | 9 | 233 | 0.0386 | 4 | c.154 others(21): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ATP7A_chrX_77905693_78055395 | 78022487 | A | ATGTT | intron_variant | MODIFIER | HG00735.hp1 HG01109.hp1 HG02683.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0005a0002c0002t0002 | a0001c0001t0003g0016a0001c0001t0005g0137a0002c0002t0002g0050others(1): Show | 4 | 233 | 0.0172 | 4 | c.291 others(23): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ATP7A_chrX_77905693_78055395 | 78022501 | G | GTTTA | intron_variant | MODIFIER | HG00735.hp2 HG00738.hp1 HG01884.hp1 others(9): Show |
a0002a0008 | a0002c0002a0008c0009 | a0002c0002t0003a0002c0002t0016a0008c0009t0003 | a0002c0002t0003g0024a0002c0002t0003g0036a0002c0002t0003g0079others(9): Show | 12 | 233 | 0.0515 | 4 | c.291 others(23): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ATP7A_chrX_77905693_78055395 | 78022505 | G | GTTTA | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00544.hp1 others(140): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0005a0001c0014others(11): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(26): Show | a0001c0001t0001g0005a0001c0001t0001g0022a0001c0001t0001g0025others(140): Show | 143 | 233 | 0.6137 | 4 | c.291 others(23): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ATP7A_chrX_77905693_78055395 | 78024400 | G | GGTTA | intron_variant | MODIFIER | HG02258.hp1 HG02280.hp1 HG02886.hp1 others(3): Show |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0008a0005c0006t0008 | a0001c0001t0008g0121a0001c0001t0008g0122a0001c0001t0008g0123others(3): Show | 6 | 233 | 0.0258 | 4 | c.291 others(23): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ATP7A_chrX_77905693_78055395 | 78027993 | G | GTATT | intron_variant | MODIFIER | HG02451.hp1 HG02559.hp1 HG02683.hp2 others(2): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0008a0002c0002t0003others(2): Show | a0001c0001t0001g0034a0001c0001t0008g0124a0002c0002t0003g0117others(2): Show | 5 | 233 | 0.0215 | 4 | c.291 others(23): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ATP7A_chrX_77905693_78055395 | 78042116 | C | CAAAA | intron_variant | MODIFIER | HG03453.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0081 | 1 | 233 | 0.0043 | 4 | c.380 others(21): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ATP7A_chrX_77905693_78055395 | 78044255 | C | CAAAA | intron_variant | MODIFIER | NA18994.hp1 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0111 | 1 | 233 | 0.0043 | 4 | c.412 others(21): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ATP7B_chr13_51927669_52016450 | 51945077 | G | GCCTT | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(157): Show |
a0002a0003a0005others(8): Show | a0002c0002a0002c0011a0002c0014others(18): Show | a0002c0002t0002a0002c0002t0007a0002c0002t0008others(36): Show | a0002c0002t0002g0002a0002c0002t0002g0003a0002c0002t0002g0005others(146): Show | 160 | 302 | 0.5298 | 4 | c.306 others(21): Show |
ATP7B | ENSG00000123191.17 | transcript | ENST00000242839.10 | protein_coding | 13/20 | chr13 | TogoVar | ||||||
ATP7B_chr13_51927669_52016450 | 51964108 | A | AACAC | intron_variant | MODIFIER | HG00323.hp1 HG00544.hp2 HG01099.hp1 others(23): Show |
a0002a0003a0007others(1): Show | a0002c0002a0002c0011a0003c0003others(3): Show | a0002c0002t0002a0002c0011t0010a0002c0011t0018others(9): Show | a0002c0002t0002g0088a0002c0002t0002g0091a0002c0011t0010g0080others(23): Show | 26 | 302 | 0.0861 | 4 | c.186 others(21): Show |
ATP7B | ENSG00000123191.17 | transcript | ENST00000242839.10 | protein_coding | 5/20 | chr13 | TogoVar | ||||||
ATP7B_chr13_51927669_52016450 | 51990443 | T | TTTAC | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00558.hp2 others(41): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0002c0014others(7): Show | a0001c0001t0003a0002c0002t0002a0002c0002t0008others(10): Show | a0001c0001t0003g0056a0001c0001t0003g0111a0002c0002t0002g0002others(37): Show | 44 | 302 | 0.1457 | 4 | c.52- others(21): Show |
ATP7B | ENSG00000123191.17 | transcript | ENST00000242839.10 | protein_coding | 1/20 | chr13 | TogoVar | ||||||
ATP7B_chr13_51927669_52016450 | 51992979 | C | CAAAA | intron_variant | MODIFIER | HG00639.hp1 HG00642.hp2 HG00733.hp1 others(14): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0003a0001c0001t0022a0002c0002t0007others(2): Show | a0001c0001t0003g0008a0001c0001t0003g0126a0001c0001t0003g0143others(13): Show | 17 | 302 | 0.0563 | 4 | c.52- others(21): Show |
ATP7B | ENSG00000123191.17 | transcript | ENST00000242839.10 | protein_coding | 1/20 | chr13 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42418361 | T | TTACC | intron_variant | MODIFIER | HG00280.hp1 HG00733.hp1 HG00738.hp2 others(79): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0027a0001c0001t0002g0014a0001c0001t0002g0015others(79): Show | 82 | 310 | 0.2645 | 4 | c.330 others(23): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 35/36 | chr4 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42418364 | C | CCTGT | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00423.hp1 others(89): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(20): Show | a0001c0001t0001g0112a0001c0001t0006g0192a0001c0001t0006g0193others(89): Show | 92 | 310 | 0.2968 | 4 | c.330 others(23): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 35/36 | chr4 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42433632 | C | CCAAA | intron_variant | MODIFIER | HG01515.hp1 HG01993.hp2 HG02300.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0112a0001c0001t0002g0181a0001c0001t0002g0183others(8): Show | 11 | 310 | 0.0355 | 4 | c.312 others(23): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 33/36 | chr4 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42435461 | A | AAAAC | intron_variant | MODIFIER | HG00639.hp1 HG01070.hp1 HG01071.hp1 others(5): Show |
a0001a0006 | a0001c0001a0001c0002a0006c0009 | a0001c0001t0006a0001c0001t0007a0001c0002t0007others(1): Show | a0001c0001t0006g0193a0001c0001t0006g0253a0001c0001t0007g0079others(5): Show | 8 | 310 | 0.0258 | 4 | c.312 others(23): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 33/36 | chr4 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42440922 | A | ATTAG | 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 | 4 | c.312 others(23): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 33/36 | chr4 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42448397 | T | TTTAC | intron_variant | MODIFIER | HG02486.hp2 HG02809.hp1 HG02976.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0027a0001c0001t0002g0014a0001c0001t0002g0034others(2): Show | 5 | 310 | 0.0161 | 4 | c.289 others(23): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 30/36 | chr4 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42466031 | C | CAAAA | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp2 HG01081.hp1 others(15): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(5): Show | a0001c0001t0002g0174a0001c0001t0002g0175a0001c0001t0003g0215others(15): Show | 18 | 310 | 0.0581 | 4 | c.232 others(21): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 25/36 | chr4 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42468430 | T | TACAC | intron_variant | MODIFIER | HG00280.hp1 HG00733.hp1 HG00738.hp2 others(76): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0027a0001c0001t0002g0014a0001c0001t0002g0015others(76): Show | 79 | 310 | 0.2548 | 4 | c.232 others(23): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 25/36 | chr4 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42472767 | G | GAAAA | intron_variant | MODIFIER | HG00621.hp1 HG03927.hp1 NA18943.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0006 | a0001c0001t0005g0298a0001c0001t0006g0235a0001c0001t0006g0236 | 3 | 310 | 0.0097 | 4 | c.232 others(23): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 25/36 | chr4 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42479942 | A | ACTCT | intron_variant | MODIFIER | HG02015.hp2 HG02071.hp2 NA18953.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0007 | a0001c0001t0006g0242a0001c0001t0006g0258a0001c0001t0007g0045others(1): Show | 4 | 310 | 0.0129 | 4 | c.232 others(23): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 25/36 | chr4 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42479996 | T | TTGTG | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01884.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0006a0001c0001t0007a0001c0002t0002others(7): Show | a0001c0001t0006g0232a0001c0001t0006g0233a0001c0001t0007g0115others(14): Show | 17 | 310 | 0.0548 | 4 | c.232 others(23): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 25/36 | chr4 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42507729 | C | CAAAA | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG01070.hp1 others(18): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0002a0001c0001t0021a0001c0002t0002others(11): Show | a0001c0001t0002g0181a0001c0001t0002g0183a0001c0001t0021g0187others(18): Show | 21 | 310 | 0.0677 | 4 | c.194 others(21): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 22/36 | chr4 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42507780 | T | TAAAA | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00639.hp2 others(14): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0078a0001c0001t0002g0174a0001c0001t0002g0175others(14): Show | 17 | 310 | 0.0548 | 4 | c.194 others(21): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 22/36 | chr4 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42525410 | T | TAAGA | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00423.hp1 others(54): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(15): Show | a0001c0001t0001g0152a0001c0001t0002g0141a0001c0001t0005g0298others(54): Show | 57 | 310 | 0.1839 | 4 | c.172 others(21): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 20/36 | chr4 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42537146 | A | AAAAC | intron_variant | MODIFIER | HG01069.hp2 HG01109.hp2 HG01515.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0011 | a0001c0001t0001g0112a0001c0001t0001g0177a0001c0001t0001g0178others(5): Show | 8 | 310 | 0.0258 | 4 | c.172 others(23): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 20/36 | chr4 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42555085 | G | GTATC | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00558.hp2 others(13): Show |
a0001 | a0001c0001a0001c0003a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0152a0001c0001t0002g0051a0001c0001t0003g0234others(13): Show | 16 | 310 | 0.0516 | 4 | c.141 others(21): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 16/36 | chr4 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42555138 | T | TTATC | intron_variant | MODIFIER | HG02273.hp2 HG02970.hp1 NA19009.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0013 | a0001c0001t0001g0057a0001c0001t0001g0078a0001c0001t0002g0105others(2): Show | 5 | 310 | 0.0161 | 4 | c.141 others(21): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 16/36 | chr4 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42555139 | A | AATCT | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG01192.hp1 others(27): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0062a0001c0001t0001g0143a0001c0001t0001g0155others(27): Show | 30 | 310 | 0.0968 | 4 | c.141 others(21): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 16/36 | chr4 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42555139 | A | ATCTT | intron_variant | MODIFIER | HG03017.hp2 NA18980.hp1 NA19060.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0011 | a0001c0001t0001g0074a0001c0001t0001g0085a0001c0001t0003g0266others(1): Show | 4 | 310 | 0.0129 | 4 | c.141 others(21): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 16/36 | chr4 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42555826 | A | ATAAC | intron_variant | MODIFIER | HG00738.hp2 HG01069.hp2 HG01109.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0074a0001c0001t0001g0112a0001c0001t0001g0177others(16): Show | 19 | 310 | 0.0613 | 4 | c.141 others(21): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 16/36 | chr4 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42555842 | C | CTAAA | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00621.hp2 others(60): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0046a0001c0001t0001g0047a0001c0001t0001g0048others(60): Show | 63 | 310 | 0.2032 | 4 | c.141 others(21): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 16/36 | chr4 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42576475 | C | CAAAA | intron_variant | MODIFIER | HG01070.hp2 HG01496.hp1 HG02735.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0017others(1): Show | a0001c0001t0001g0082a0001c0001t0001g0157a0001c0001t0002g0147others(3): Show | 6 | 310 | 0.0194 | 4 | c.112 others(21): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 12/36 | chr4 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42580320 | T | TTTAG | intron_variant | MODIFIER | HG01167.hp1 HG02145.hp2 HG02559.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0015a0001c0001t0027others(4): Show | a0001c0001t0004g0043a0001c0001t0015g0011a0001c0001t0027g0023others(10): Show | 13 | 310 | 0.0419 | 4 | c.835 others(19): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 10/36 | chr4 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42587311 | T | TTTTC | intron_variant | MODIFIER | HG01167.hp1 HG02559.hp1 HG02723.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0004a0001c0001t0009a0001c0001t0027others(4): Show | a0001c0001t0004g0043a0001c0001t0009g0223a0001c0001t0027g0023others(10): Show | 13 | 310 | 0.0419 | 4 | c.595 others(19): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 8/36 | chr4 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42602791 | A | AAAAT | intron_variant | MODIFIER | HG00733.hp2 HG00735.hp1 HG00738.hp2 others(39): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(13): Show | a0001c0001t0001g0112a0001c0001t0001g0177a0001c0001t0001g0178others(39): Show | 42 | 310 | 0.1355 | 4 | c.410 others(21): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 5/36 | chr4 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42635780 | C | CATAT | intron_variant | MODIFIER | HG02074.hp1 HG02074.hp2 HG02523.hp2 others(4): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(4): Show | a0001c0001t0001g0053a0001c0001t0002g0161a0001c0001t0009g0224others(4): Show | 7 | 310 | 0.0226 | 4 | c.50- others(19): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 1/36 | chr4 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42635782 | C | CATAT | intron_variant | MODIFIER | HG00423.hp1 HG01070.hp1 HG01071.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(4): Show | a0001c0001t0001g0094a0001c0001t0006g0235a0001c0001t0006g0238others(8): Show | 11 | 310 | 0.0355 | 4 | c.50- others(19): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 1/36 | chr4 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42636119 | T | TACAC | intron_variant | MODIFIER | HG02559.hp1 HG02976.hp1 HG03516.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0009a0001c0001t0027a0001c0002t0004 | a0001c0001t0009g0221a0001c0001t0027g0023a0001c0002t0004g0022others(1): Show | 4 | 310 | 0.0129 | 4 | c.50- others(19): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 1/36 | chr4 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42653340 | T | TTTTG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(285): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(61): Show | a0001c0001t0001g0027a0001c0001t0001g0046a0001c0001t0001g0047others(285): Show | 288 | 310 | 0.9290 | 4 | c.49+ others(19): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 1/36 | chr4 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25371381 | G | GGTGT | upstream_gene_variant | MODIFIER | HG00642.hp2 HG00738.hp1 HG01069.hp2 others(75): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(71): Show | a0001c0001t0002g0079a0001c0001t0003g0093a0001c0001t0005g0102others(75): Show | 78 | 122 | 0.6393 | 4 | c.-83 others(13): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 592 | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25431147 | T | TTTTA | intron_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG00738.hp2 others(104): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(92): Show | a0001c0001t0001g0036a0001c0001t0002g0079a0001c0001t0004g0040others(104): Show | 107 | 122 | 0.8771 | 4 | c.77- others(21): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25435937 | G | GTGTA | intron_variant | MODIFIER | HG00738.hp2 HG01069.hp1 HG01070.hp1 others(35): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0011others(30): Show | a0001c0001t0002g0079a0001c0001t0004g0046a0001c0001t0011g0062others(35): Show | 38 | 122 | 0.3115 | 4 | c.77- others(21): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25435957 | G | GTGTA | intron_variant | MODIFIER | HG00642.hp2 HG00738.hp2 HG00741.hp2 others(62): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0009others(54): Show | a0001c0001t0002g0079a0001c0001t0004g0040a0001c0001t0004g0046others(62): Show | 65 | 122 | 0.5328 | 4 | c.77- others(21): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25465663 | T | TTTTC | intron_variant | MODIFIER | HG00738.hp1 HG02647.hp2 |
a0001 | a0001c0003a0001c0014 | a0001c0003t0060a0001c0014t0034 | a0001c0003t0060g0115a0001c0014t0034g0064 | 2 | 122 | 0.0164 | 4 | c.77- others(19): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25504746 | C | CAAAA | intron_variant | MODIFIER | HG02630.hp2 HG03130.hp1 HG03139.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0016a0001c0001t0025a0001c0001t0048others(5): Show | a0001c0001t0016g0104a0001c0001t0025g0009a0001c0001t0048g0122others(5): Show | 8 | 122 | 0.0656 | 4 | c.222 others(23): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25510174 | A | AACAC | intron_variant | MODIFIER | HG00741.hp2 HG01109.hp1 HG02015.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0024a0001c0001t0054a0001c0002t0003others(5): Show | a0001c0001t0024g0003a0001c0001t0054g0103a0001c0002t0003g0088others(7): Show | 10 | 122 | 0.0820 | 4 | c.222 others(23): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25524886 | A | ACTTC | intron_variant | MODIFIER | HG01358.hp1 HG02055.hp2 HG02615.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0003a0001c0001t0016a0001c0001t0024others(13): Show | a0001c0001t0003g0093a0001c0001t0016g0104a0001c0001t0024g0003others(13): Show | 16 | 122 | 0.1312 | 4 | c.222 others(21): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar |