view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP8A1_chr4_42403373_42662105 | 42580337 | G | GGAAGACA others(3): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0308 | 1 | 308 | 0.0032 | 10 | c.835 others(25): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 10/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42623009 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0200 | 1 | 137 | 0.0073 | 10 | c.363 others(27): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 4/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42635778 | C | CATATATA others(3): Show |
intron_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0197 | 1 | 288 | 0.0035 | 10 | c.50- others(25): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 1/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42635780 | C | CATATATA others(3): Show |
intron_variant | MODIFIER | HG00438.hp2 HG04184.hp1 HG04204.hp2 others(4): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(2): Show | a0001c0001t0001g0149 a0001c0001t0001g0156 a0001c0001t0001g0158 others(4): Show |
7 | 231 | 0.0303 | 10 | c.50- others(25): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 1/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42635782 | C | CATATATA others(3): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01069.hp2 HG01074.hp1 others(7): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0003t0003others(3): Show | a0001c0001t0001g0050 a0001c0001t0001g0177 a0001c0001t0001g0178 others(7): Show |
10 | 81 | 0.1235 | 10 | c.50- others(25): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 1/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42636148 | A | ACGCGCGC others(3): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0132 | 1 | 289 | 0.0035 | 10 | c.50- others(25): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 1/36 | chr4 | TogoVar | |||||||
ATP8A2_chr13_25366974_26030851 | 25389983 | C | CTTTTGTT others(3): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01074.hp1 HG01074.hp2 others(20): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0015others(19): Show | a0001c0001t0002g0079 a0001c0001t0003g0093 a0001c0001t0015g0016 others(20): Show |
23 | 107 | 0.2150 | 10 | c.76+ others(27): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25465748 | C | CCTCCCTC others(3): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02630.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0016 | a0001c0001t0005g0102 a0001c0001t0016g0104 |
2 | 37 | 0.0541 | 10 | c.77- others(25): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25506940 | C | CATATATA others(3): Show |
intron_variant | MODIFIER | HG00738.hp2 HG02280.hp1 HG03490.hp1 others(2): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0008a0001c0001t0015a0001c0001t0018others(2): Show | a0001c0001t0008g0073 a0001c0001t0015g0082 a0001c0001t0018g0041 others(2): Show |
5 | 37 | 0.1351 | 10 | c.222 others(29): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25539060 | A | AGTGTGTG others(3): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0089 | 1 | 38 | 0.0263 | 10 | c.581 others(27): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25554523 | G | GTGTGTGT others(3): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0015 | a0001c0015t0008 | a0001c0015t0008g0015 | 1 | 112 | 0.0089 | 10 | c.118 others(27): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 12/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25594984 | G | GTATATAT others(3): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0020 | a0001c0020t0019 | a0001c0020t0019g0067 | 1 | 23 | 0.0435 | 10 | c.221 others(29): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 24/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25701723 | A | AACACACA others(3): Show |
intron_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0037 | 1 | 22 | 0.0455 | 10 | c.238 others(29): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 25/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25720167 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG01175.hp2 HG02257.hp2 HG02559.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0008a0001c0001t0010a0001c0001t0026others(7): Show | a0001c0001t0008g0073 a0001c0001t0010g0100 a0001c0001t0026g0089 others(7): Show |
10 | 66 | 0.1515 | 10 | c.238 others(31): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 25/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25744325 | A | ACCCCCCC others(3): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0091 | 1 | 111 | 0.0090 | 10 | c.238 others(31): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 25/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25744925 | T | TTTTTCTT others(3): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0003 | a0001c0003t0052 | a0001c0003t0052g0113 | 1 | 114 | 0.0088 | 10 | c.238 others(31): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 25/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25762268 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | NA20129.hp2 NA21309.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0050a0001c0002t0005 | a0001c0001t0050g0025 a0001c0002t0005g0034 |
2 | 8 | 0.2500 | 10 | c.238 others(29): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 25/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25791542 | T | TACACACA others(3): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02622.hp1 HG02965.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0008a0001c0001t0015a0001c0001t0030others(5): Show | a0001c0001t0008g0073 a0001c0001t0015g0082 a0001c0001t0030g0091 others(5): Show |
8 | 23 | 0.3478 | 10 | c.267 others(31): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 27/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25794820 | T | TACACACA others(3): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01074.hp2 HG01109.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0004a0001c0001t0040a0001c0001t0053others(4): Show | a0001c0001t0004g0046 a0001c0001t0040g0038 a0001c0001t0053g0114 others(4): Show |
7 | 24 | 0.2917 | 10 | c.267 others(31): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 27/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25813382 | T | TATATGAT others(3): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01070.hp2 HG01081.hp1 others(23): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0024others(23): Show | a0001c0001t0002g0079 a0001c0001t0004g0046 a0001c0001t0024g0004 others(23): Show |
26 | 62 | 0.4194 | 10 | c.268 others(31): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 27/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25814098 | G | GACACACA others(3): Show |
intron_variant | MODIFIER | HG02273.hp2 HG02698.hp2 HG02896.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0030a0001c0001t0041a0001c0001t0046others(4): Show | a0001c0001t0030g0091 a0001c0001t0041g0044 a0001c0001t0046g0045 others(4): Show |
7 | 11 | 0.6364 | 10 | c.268 others(31): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 27/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25829668 | G | GTATATAT others(3): Show |
intron_variant | MODIFIER | HG02896.hp2 HG03098.hp1 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0009a0001c0008t0013 | a0001c0001t0009g0065 a0001c0008t0013g0074 |
2 | 12 | 0.1667 | 10 | c.275 others(29): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25853392 | A | AATATATA others(3): Show |
intron_variant | MODIFIER | HG02723.hp1 HG02809.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0019a0001c0002t0003 | a0001c0001t0019g0005 a0001c0002t0003g0120 |
2 | 95 | 0.0211 | 10 | c.295 others(29): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 30/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25853394 | A | AATATATA others(3): Show |
intron_variant | MODIFIER | HG01081.hp2 NA21309.hp2 |
a0001 | a0001c0002 | a0001c0002t0005a0001c0002t0031 | a0001c0002t0005g0034 a0001c0002t0031g0058 |
2 | 51 | 0.0392 | 10 | c.295 others(29): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 30/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25889245 | C | CATATATA others(3): Show |
intron_variant | MODIFIER | HG01074.hp2 HG02723.hp1 HG02886.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0053a0001c0001t0064a0001c0002t0003others(2): Show | a0001c0001t0053g0114 a0001c0001t0064g0072 a0001c0002t0003g0120 others(2): Show |
5 | 26 | 0.1923 | 10 | c.318 others(31): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 33/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25892478 | G | GTCTCTCT others(3): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0120 | 1 | 55 | 0.0182 | 10 | c.318 others(31): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 33/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25902939 | G | GCACACAC others(3): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01074.hp2 HG01243.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0008a0001c0001t0053a0001c0002t0003others(9): Show | a0001c0001t0008g0073 a0001c0001t0053g0114 a0001c0002t0003g0120 others(9): Show |
12 | 64 | 0.1875 | 10 | c.318 others(31): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 33/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 26002848 | C | CTGTGTGT others(3): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0031 | 1 | 21 | 0.0476 | 10 | c.337 others(29): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 35/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8B1_chr18_57641426_57808315 | 57648882 | G | GTGTATGT others(3): Show |
intron_variant | MODIFIER | HG02080.hp1 NA18939.hp2 NA18974.hp2 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0014a0002c0002t0019a0002c0002t0037 | a0002c0002t0014g0207 a0002c0002t0014g0236 a0002c0002t0014g0266 others(5): Show |
8 | 18 | 0.4444 | 10 | c.353 others(27): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 27/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57648882 | G | GTGTGTGT others(3): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00597.hp2 HG00673.hp2 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0002g0200 others(23): Show |
26 | 36 | 0.7222 | 10 | c.353 others(27): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 27/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57658627 | T | TTGTGTGT others(3): Show |
intron_variant | MODIFIER | HG02071.hp2 HG02809.hp2 HG02818.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0002g0202 a0001c0001t0003g0238 a0001c0001t0004g0105 others(1): Show |
4 | 83 | 0.0482 | 10 | c.270 others(29): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 22/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57672931 | T | TATATATA others(3): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0050 | 1 | 66 | 0.0152 | 10 | c.182 others(29): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 16/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57680277 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | NA18983.hp2 NA18999.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0009 | a0001c0001t0003g0208 a0001c0001t0009g0259 |
2 | 15 | 0.1333 | 10 | c.163 others(29): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 15/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57680585 | A | AAAAACAA others(3): Show |
intron_variant | MODIFIER | NA18980.hp1 | a0002 | a0002c0002 | a0002c0002t0014 | a0002c0002t0014g0229 | 1 | 181 | 0.0055 | 10 | c.163 others(29): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 15/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57680585 | A | AGAAACAA others(3): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02738.hp1 HG03239.hp2 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0013 | a0001c0001t0006g0093 a0001c0001t0013g0271 a0001c0001t0013g0272 |
3 | 183 | 0.0164 | 10 | c.163 others(29): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 15/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57712048 | C | CATATATA others(3): Show |
intron_variant | MODIFIER | HG03139.hp2 HG03486.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0039a0001c0001t0040 | a0001c0001t0001g0003 a0001c0001t0039g0149 a0001c0001t0040g0148 |
3 | 226 | 0.0133 | 10 | c.182 others(27): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 2/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57713475 | T | TTTTTATT others(3): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01891.hp1 HG02572.hp1 others(16): Show |
a0001a0003 | a0001c0001a0001c0013a0001c0019others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0003 a0001c0001t0001g0098 a0001c0001t0001g0100 others(16): Show |
19 | 302 | 0.0629 | 10 | c.182 others(27): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 2/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57756236 | C | CACACACA others(3): Show |
intron_variant | MODIFIER | NA18991.hp2 | a0002 | a0002c0002 | a0002c0002t0037 | a0002c0002t0037g0175 | 1 | 133 | 0.0075 | 10 | c.-25 others(29): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57756305 | A | ATATATAT others(3): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00642.hp1 HG02080.hp1 others(15): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0043 a0001c0001t0002g0295 a0001c0001t0004g0113 others(15): Show |
18 | 154 | 0.1169 | 10 | c.-25 others(29): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57756653 | T | TTCTCTCT others(3): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00423.hp2 others(43): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0016 a0001c0001t0001g0086 a0001c0001t0001g0112 others(43): Show |
46 | 211 | 0.2180 | 10 | c.-25 others(29): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57761112 | T | TATAAAAT others(3): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02293.hp2 HG02622.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0008 | a0001c0001t0001g0078 a0001c0001t0007g0226 a0001c0001t0007g0283 others(3): Show |
6 | 82 | 0.0732 | 10 | c.-25 others(29): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57782803 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG02970.hp1 HG02976.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0098 a0001c0001t0003g0281 |
2 | 4 | 0.5000 | 10 | c.-26 others(29): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | |||||||
ATP8B2_chr1_154320525_154356304 | 154322489 | C | CTTCTTCT others(3): Show |
upstream_gene_variant | MODIFIER | HG01099.hp2 HG03654.hp2 NA18612.hp1 |
a0001 | a0001c0003a0001c0004 | a0001c0003t0031a0001c0004t0005 | a0001c0003t0031g0023 a0001c0004t0005g0003 a0001c0004t0005g0155 |
3 | 111 | 0.0270 | 10 | c.-32 others(21): Show |
ATP8B2 | ENSG00000143515.20 | transcript | ENST00000368489.6 | protein_coding | 3035 | chr1 | TogoVar | |||||||
ATP8B2_chr1_154320525_154356304 | 154355261 | C | CACACACA others(3): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG02602.hp2 HG03490.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0002 a0001c0002t0003g0115 |
4 | 302 | 0.0132 | 10 | c.*61 others(21): Show |
ATP8B2 | ENSG00000143515.20 | transcript | ENST00000368489.6 | protein_coding | 3958 | chr1 | TogoVar | |||||||
ATP8B3_chr19_1777075_1817276 | 1778866 | T | TCACACAC others(3): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG01884.hp2 others(4): Show |
a0001a0003a0004others(1): Show | a0001c0024a0001c0030a0003c0002others(3): Show | a0001c0024t0002a0001c0030t0002a0003c0002t0004others(3): Show | a0001c0024t0002g0140 a0001c0030t0002g0046 a0003c0002t0004g0337 others(3): Show |
7 | 139 | 0.0504 | 10 | c.*41 others(21): Show |
ATP8B3 | ENSG00000130270.16 | transcript | ENST00000310127.10 | protein_coding | 3208 | chr19 | TogoVar | |||||||
ATP8B3_chr19_1777075_1817276 | 1778885 | C | CACACACA others(3): Show |
downstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0041 | 1 | 388 | 0.0026 | 10 | c.*41 others(21): Show |
ATP8B3 | ENSG00000130270.16 | transcript | ENST00000310127.10 | protein_coding | 3189 | chr19 | TogoVar | |||||||
ATP8B3_chr19_1777075_1817276 | 1780973 | T | TAAAAAAA others(3): Show |
downstream_gene_variant | MODIFIER | HG01243.hp2 HG02257.hp2 HG02559.hp2 others(2): Show |
a0001a0002a0007 | a0001c0028a0001c0037a0002c0019others(1): Show | a0001c0028t0009a0001c0037t0009a0002c0019t0011others(1): Show | a0001c0028t0009g0044 a0001c0037t0009g0180 a0002c0019t0011g0005 others(1): Show |
5 | 89 | 0.0562 | 10 | c.*20 others(21): Show |
ATP8B3 | ENSG00000130270.16 | transcript | ENST00000310127.10 | protein_coding | 1101 | chr19 | TogoVar | |||||||
ATP8B3_chr19_1777075_1817276 | 1795784 | T | TACACACA others(3): Show |
intron_variant | MODIFIER | HG01255.hp2 HG02055.hp2 HG02129.hp1 others(1): Show |
a0001a0005a0007 | a0001c0004a0005c0053a0007c0023others(1): Show | a0001c0004t0003a0005c0053t0001a0007c0023t0007others(1): Show | a0001c0004t0003g0061 a0005c0053t0001g0043 a0007c0023t0007g0052 others(1): Show |
4 | 42 | 0.0952 | 10 | c.205 others(25): Show |
ATP8B3 | ENSG00000130270.16 | transcript | ENST00000310127.10 | protein_coding | 18/28 | chr19 | TogoVar | |||||||
ATP8B3_chr19_1777075_1817276 | 1817135 | C | CCCAGATG others(3): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(295): Show |
a0001a0002a0003others(27): Show | a0001c0001a0001c0004a0001c0006others(54): Show | a0001c0001t0001a0001c0001t0006a0001c0004t0001others(73): Show | a0001c0001t0001g0003 a0001c0001t0001g0017 a0001c0001t0001g0033 others(287): Show |
298 | 388 | 0.7680 | 10 | c.-51 others(21): Show |
ATP8B3 | ENSG00000130270.16 | transcript | ENST00000310127.10 | protein_coding | 4860 | chr19 | TogoVar | |||||||
ATP8B4_chr15_49853238_50124233 | 49861402 | A | ATGTGTGT others(3): Show |
intron_variant | MODIFIER | HG03491.hp2 HG03704.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0119 a0001c0001t0003g0211 |
2 | 135 | 0.0148 | 10 | c.329 others(27): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 27/27 | chr15 | TogoVar |