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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP6V1E2_chr2_46506847_46547577 | 46518758 | T | TTGTGTGT others(9): Show |
intron_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0262 | 1 | 20 | 0.0500 | 16 | c.-10 others(35): Show |
ATP6V1E2 | ENSG00000250565.7 | transcript | ENST00000522587.6 | protein_coding | 4/4 | chr2 | TogoVar | |||||||
ATP6V1G3_chr1_198518222_198545680 | 198538891 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02258.hp1 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0043 a0001c0001t0002g0093 |
3 | 188 | 0.0160 | 16 | c.82+ others(31): Show |
ATP6V1G3 | ENSG00000151418.12 | transcript | ENST00000367382.6 | protein_coding | 1/2 | chr1 | TogoVar | |||||||
ATP7A_chrX_77905693_78055395 | 77956726 | C | CCTTTCTT others(9): Show |
intron_variant | MODIFIER | HG03831.hp2 NA18951.hp2 NA19058.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0003 | a0001c0001t0001g0167 a0001c0001t0001g0205 a0002c0002t0003g0222 |
3 | 47 | 0.0638 | 16 | c.-21 others(35): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ATP7B_chr13_51927669_52016450 | 51953851 | T | TAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00642.hp1 HG00741.hp1 others(5): Show |
a0002a0005 | a0002c0002a0005c0012a0005c0026 | a0002c0002t0002a0002c0002t0023a0005c0012t0003others(1): Show | a0002c0002t0002g0070 a0002c0002t0002g0072 a0002c0002t0002g0087 others(5): Show |
8 | 143 | 0.0559 | 16 | c.244 others(35): Show |
ATP7B | ENSG00000123191.17 | transcript | ENST00000242839.10 | protein_coding | 9/20 | chr13 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42446080 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0247 | 1 | 15 | 0.0667 | 16 | c.295 others(33): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 31/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42448392 | C | CTTACTTT others(9): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02717.hp2 HG02922.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0002a0001c0003t0003 | a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 others(3): Show |
6 | 306 | 0.0196 | 16 | c.289 others(35): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 30/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42448396 | C | CTTTACTT others(9): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00639.hp2 others(75): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0112 a0001c0001t0002g0045 a0001c0001t0002g0051 others(75): Show |
78 | 183 | 0.4262 | 16 | c.289 others(35): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 30/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42479996 | T | TTGTGTGT others(9): Show |
intron_variant | MODIFIER | HG02559.hp2 HG03195.hp1 NA19010.hp1 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0003a0001c0001t0006a0001c0001t0018others(1): Show | a0001c0001t0003g0197 a0001c0001t0003g0239 a0001c0001t0006g0251 others(2): Show |
5 | 47 | 0.1064 | 16 | c.232 others(35): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 25/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42480008 | G | GTGTGTGT others(9): Show |
intron_variant | MODIFIER | HG01993.hp2 HG02300.hp2 HG02451.hp1 others(8): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(3): Show | a0001c0001t0001g0112 a0001c0001t0002g0181 a0001c0001t0002g0182 others(8): Show |
11 | 307 | 0.0358 | 16 | c.232 others(35): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 25/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42555139 | A | ATCTAATC others(9): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0292 | 1 | 169 | 0.0059 | 16 | c.141 others(33): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 16/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42555139 | A | ATCTATCT others(9): Show |
intron_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 169 | 0.0059 | 16 | c.141 others(33): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 16/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42635780 | C | CATATATA others(9): Show |
intron_variant | MODIFIER | HG02647.hp1 HG03130.hp1 NA19060.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0012a0001c0001t0015others(1): Show | a0001c0001t0001g0069 a0001c0001t0012g0303 a0001c0001t0015g0011 others(1): Show |
4 | 228 | 0.0175 | 16 | c.50- others(31): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 1/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42635782 | C | CACACATA others(9): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0098 | 1 | 72 | 0.0139 | 16 | c.50- others(31): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 1/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42635782 | C | CATATATA others(9): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01081.hp2 HG01261.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0003a0001c0001t0015a0001c0002t0014others(1): Show | a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0269 others(4): Show |
7 | 78 | 0.0897 | 16 | c.50- others(31): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 1/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42635810 | T | TATATATA others(9): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02615.hp1 |
a0001 | a0001c0002 | a0001c0002t0016 | a0001c0002t0016g0019 a0001c0002t0016g0026 |
2 | 296 | 0.0068 | 16 | c.50- others(31): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 1/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42636152 | A | ACGCGCGC others(9): Show |
intron_variant | MODIFIER | HG02717.hp2 HG02723.hp2 |
a0001 | a0001c0003a0001c0004 | a0001c0003t0002a0001c0004t0010 | a0001c0003t0002g0180 a0001c0004t0010g0286 |
2 | 282 | 0.0071 | 16 | c.50- others(31): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 1/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42636154 | A | ACGCGCGC others(9): Show |
intron_variant | MODIFIER | HG00733.hp2 HG00735.hp1 HG01106.hp2 others(17): Show |
a0001a0002 | a0001c0003a0001c0004a0002c0007 | a0001c0003t0001a0001c0003t0002a0001c0003t0003others(8): Show | a0001c0003t0001g0173 a0001c0003t0002g0167 a0001c0003t0002g0168 others(17): Show |
20 | 276 | 0.0725 | 16 | c.50- others(31): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 1/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42636156 | A | ACGCGCGT others(9): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01361.hp2 HG03195.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(3): Show | a0001c0001t0001g0064 a0001c0001t0001g0070 a0001c0001t0001g0071 others(6): Show |
9 | 213 | 0.0423 | 16 | c.50- others(31): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 1/36 | chr4 | TogoVar | |||||||
ATP8A2_chr13_25366974_26030851 | 25465663 | T | TTTTCTTC others(9): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0006 | a0001c0006t0043 | a0001c0006t0043g0095 | 1 | 107 | 0.0093 | 16 | c.77- others(31): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25465737 | T | TTCTTTCT others(9): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0010 | a0001c0010t0012 | a0001c0010t0012g0090 | 1 | 62 | 0.0161 | 16 | c.77- others(31): 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(9): Show |
intron_variant | MODIFIER | HG02273.hp2 HG03490.hp2 |
a0001 | a0001c0002 | a0001c0002t0020a0001c0002t0021 | a0001c0002t0020g0097 a0001c0002t0021g0017 |
2 | 37 | 0.0541 | 16 | c.77- others(31): 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(9): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00738.hp1 HG02896.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0008 | a0001c0001t0001a0001c0001t0009a0001c0001t0050others(4): Show | a0001c0001t0001g0036 a0001c0001t0009g0065 a0001c0001t0050g0025 others(4): Show |
7 | 39 | 0.1795 | 16 | c.222 others(35): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25524886 | A | ACTTCCTT others(9): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0091 | 1 | 21 | 0.0476 | 16 | c.222 others(33): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25829668 | G | GTATATAT others(9): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0061 | 1 | 11 | 0.0909 | 16 | c.275 others(35): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25889245 | C | CATATATA others(9): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00738.hp2 HG01069.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0005a0001c0001t0018a0001c0001t0026others(14): Show | a0001c0001t0005g0102 a0001c0001t0018g0041 a0001c0001t0026g0089 others(14): Show |
17 | 38 | 0.4474 | 16 | c.318 others(37): 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(9): Show |
intron_variant | MODIFIER | HG01175.hp1 HG01358.hp2 HG02273.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0008a0001c0001t0025others(6): Show | a0001c0001t0002g0079 a0001c0001t0008g0073 a0001c0001t0025g0009 others(6): Show |
9 | 63 | 0.1429 | 16 | c.318 others(37): 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(9): Show |
intron_variant | MODIFIER | HG03490.hp2 HG06807.hp2 NA19004.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0020 | a0001c0002t0001g0035 a0001c0002t0001g0039 a0001c0002t0020g0097 |
3 | 55 | 0.0545 | 16 | c.318 others(37): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 33/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25937362 | C | CTTTCTTT others(9): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0003 | a0001c0003t0010 | a0001c0003t0010g0026 | 1 | 17 | 0.0588 | 16 | c.318 others(37): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 33/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8B1_chr18_57641426_57808315 | 57648882 | G | GTGTGTGT others(9): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01243.hp1 HG02080.hp2 others(15): Show |
a0001a0003a0006 | a0001c0001a0003c0003a0006c0017 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0086 a0001c0001t0001g0100 a0001c0001t0002g0250 others(15): Show |
18 | 28 | 0.6429 | 16 | c.353 others(33): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 27/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57649190 | A | ATATCTAT others(9): Show |
intron_variant | MODIFIER | HG01346.hp1 HG01515.hp2 HG03516.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0019a0002c0002 | a0001c0001t0002a0001c0001t0006a0001c0001t0009others(6): Show | a0001c0001t0002g0213 a0001c0001t0006g0030 a0001c0001t0009g0205 others(7): Show |
10 | 109 | 0.0917 | 16 | c.353 others(33): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 27/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57672883 | A | AGTATATA others(9): Show |
intron_variant | MODIFIER | HG00673.hp1 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0303 a0001c0001t0005g0046 |
2 | 213 | 0.0094 | 16 | c.182 others(35): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 16/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57680277 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0046 | 1 | 14 | 0.0714 | 16 | c.163 others(35): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 15/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57713157 | C | CTCTTTCT others(9): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01952.hp2 HG02071.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0058 a0001c0001t0001g0078 a0001c0001t0002g0201 others(9): Show |
12 | 207 | 0.0580 | 16 | c.182 others(33): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 2/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57713196 | T | TTTCTTTC others(9): Show |
intron_variant | MODIFIER | NA18974.hp2 NA21309.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0014 | a0001c0001t0001g0006 a0002c0002t0014g0293 |
2 | 181 | 0.0110 | 16 | c.182 others(33): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 2/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57713196 | T | TTTCTTTC others(9): Show |
intron_variant | MODIFIER | HG01891.hp1 NA18522.hp1 |
a0001 | a0001c0001a0001c0013 | a0001c0001t0021a0001c0013t0035 | a0001c0001t0021g0001 a0001c0013t0035g0008 |
2 | 181 | 0.0110 | 16 | c.182 others(33): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 2/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57713240 | C | CTTCCTTC others(9): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 194 | 0.0052 | 16 | c.182 others(33): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 2/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57713240 | C | CTTCCTTC others(9): Show |
intron_variant | MODIFIER | HG01261.hp2 HG02071.hp2 HG02572.hp1 others(2): Show |
a0001 | a0001c0001a0001c0018 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0002g0203 a0001c0001t0003g0238 a0001c0001t0005g0085 others(2): Show |
5 | 198 | 0.0253 | 16 | c.182 others(33): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 2/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57713240 | C | CTTCTTTC others(9): Show |
intron_variant | MODIFIER | HG01167.hp2 HG03486.hp2 NA18950.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0039others(1): Show | a0001c0001t0003g0198 a0001c0001t0003g0239 a0001c0001t0004g0138 others(2): Show |
5 | 198 | 0.0253 | 16 | c.182 others(33): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 2/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57732309 | G | GTATATAT others(9): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0286 | 1 | 154 | 0.0065 | 16 | c.-25 others(31): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57756192 | C | CATATATA others(9): Show |
intron_variant | MODIFIER | HG02922.hp1 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0028 | a0001c0001t0002g0279 a0001c0001t0028g0304 |
2 | 143 | 0.0140 | 16 | c.-25 others(35): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57756236 | C | CACACACA others(9): Show |
intron_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0041 | 1 | 133 | 0.0075 | 16 | c.-25 others(35): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57756305 | A | ATATATAT others(9): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01071.hp1 HG01081.hp1 others(18): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0019a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(9): Show | a0001c0001t0001g0006 a0001c0001t0001g0053 a0001c0001t0001g0076 others(18): Show |
21 | 157 | 0.1338 | 16 | c.-25 others(35): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57756653 | T | TTCTCTCT others(9): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0003 | a0003c0003 | a0003c0003t0022 | a0003c0003t0022g0111 | 1 | 166 | 0.0060 | 16 | c.-25 others(35): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | |||||||
ATP8B3_chr19_1777075_1817276 | 1778866 | T | TCACACAC others(9): Show |
downstream_gene_variant | MODIFIER | HG03130.hp2 | a0003 | a0003c0002 | a0003c0002t0002 | a0003c0002t0002g0009 | 1 | 133 | 0.0075 | 16 | c.*41 others(27): Show |
ATP8B3 | ENSG00000130270.16 | transcript | ENST00000310127.10 | protein_coding | 3208 | chr19 | TogoVar | |||||||
ATP8B4_chr15_49853238_50124233 | 49861473 | T | TCTATCTA others(9): Show |
intron_variant | MODIFIER | HG00140.hp1 HG03942.hp1 NA20905.hp2 |
a0003 | a0003c0003 | a0003c0003t0007a0003c0003t0013 | a0003c0003t0007g0048 a0003c0003t0007g0060 a0003c0003t0013g0146 |
3 | 131 | 0.0229 | 16 | c.329 others(33): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 27/27 | chr15 | TogoVar | |||||||
ATP8B4_chr15_49853238_50124233 | 49978739 | T | TACACACA others(9): Show |
intron_variant | MODIFIER | HG02056.hp2 HG02148.hp2 NA18949.hp1 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0141 a0002c0002t0001g0207 a0002c0002t0002g0063 |
3 | 40 | 0.0750 | 16 | c.103 others(33): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 12/27 | chr15 | TogoVar | |||||||
ATP8B4_chr15_49853238_50124233 | 50027379 | G | GTGGATGG others(9): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp2 others(85): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0014a0002c0002others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 others(85): Show |
88 | 119 | 0.7395 | 16 | c.362 others(35): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 6/27 | chr15 | TogoVar | |||||||
ATP8B4_chr15_49853238_50124233 | 50072921 | C | CCCCTCTC others(9): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0019a0002c0002t0002 | a0001c0001t0019g0026 a0002c0002t0002g0070 |
2 | 188 | 0.0106 | 16 | c.87+ others(31): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 3/27 | chr15 | TogoVar | |||||||
ATP8B4_chr15_49853238_50124233 | 50072921 | C | CCTCTCTC others(9): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0129 | 1 | 187 | 0.0053 | 16 | c.87+ others(31): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 3/27 | chr15 | TogoVar | |||||||
ATP8B4_chr15_49853238_50124233 | 50072980 | C | CTCTCTCT others(9): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0014 | a0001c0014t0001 | a0001c0014t0001g0098 | 1 | 182 | 0.0055 | 16 | c.87+ others(31): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 3/27 | chr15 | TogoVar |