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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP6V1G1_chr9_114582769_114603879 | 114588510 | A | AGTGTGTG others(5): Show |
intron_variant | MODIFIER | NA18947.hp2 NA18953.hp1 NA18956.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0023 a0001c0001t0006g0018 a0001c0001t0006g0058 |
8 | 51 | 0.1569 | 12 | c.82+ others(25): Show |
ATP6V1G1 | ENSG00000136888.8 | transcript | ENST00000374050.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ATP6V1G3_chr1_198518222_198545680 | 198538891 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01167.hp2 HG01169.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001 | a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0090 others(1): Show |
6 | 191 | 0.0314 | 12 | c.82+ others(27): Show |
ATP6V1G3 | ENSG00000151418.12 | transcript | ENST00000367382.6 | protein_coding | 1/2 | chr1 | TogoVar | |||||||
ATP6V1H_chr8_53710543_53848245 | 53748209 | T | TAAGCTCC others(5): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 284 | 0.0035 | 12 | c.127 others(31): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | TogoVar | |||||||
ATP6V1H_chr8_53710543_53848245 | 53755685 | C | CATATATA others(5): Show |
intron_variant | MODIFIER | NA18968.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 | 1 | 182 | 0.0055 | 12 | c.127 others(29): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | TogoVar | |||||||
ATP6V1H_chr8_53710543_53848245 | 53765454 | A | AACACACA others(5): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 124 | 0.0081 | 12 | c.117 others(31): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | TogoVar | |||||||
ATP7A_chrX_77905693_78055395 | 77956726 | C | CCTTTCTT others(5): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00738.hp1 HG01074.hp1 others(17): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0003others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(6): Show | a0001c0001t0001g0099 a0001c0001t0001g0195 a0001c0001t0004g0193 others(17): Show |
20 | 64 | 0.3125 | 12 | c.-21 others(31): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ATP7A_chrX_77905693_78055395 | 78022505 | G | GTTTGTTT others(5): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01255.hp1 HG01258.hp1 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0003 | a0002c0002t0002g0060 a0002c0002t0002g0075 a0002c0002t0003g0025 others(4): Show |
7 | 20 | 0.3500 | 12 | c.291 others(31): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ATP7A_chrX_77905693_78055395 | 78037980 | G | GTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00621.hp1 HG00735.hp1 others(20): Show |
a0002a0004 | a0002c0002a0004c0003 | a0002c0002t0002a0002c0002t0003a0002c0002t0006others(1): Show | a0002c0002t0002g0033 a0002c0002t0002g0036 a0002c0002t0002g0046 others(20): Show |
23 | 98 | 0.2347 | 12 | c.351 others(29): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ATP7B_chr13_51927669_52016450 | 51953851 | T | TAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02257.hp2 HG02451.hp1 others(4): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0020a0003c0003t0006a0003c0003t0013 | a0002c0002t0020g0054 a0003c0003t0006g0164 a0003c0003t0006g0165 others(4): Show |
7 | 142 | 0.0493 | 12 | c.244 others(31): Show |
ATP7B | ENSG00000123191.17 | transcript | ENST00000242839.10 | protein_coding | 9/20 | chr13 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42446080 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG03834.hp2 NA18969.hp1 NA18983.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0060 others(6): Show |
9 | 23 | 0.3913 | 12 | c.295 others(29): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 31/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42446098 | A | AAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG02818.hp2 HG02897.hp2 HG03041.hp2 |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0004a0002c0005t0004 | a0001c0001t0004g0025 a0002c0005t0004g0037 a0002c0005t0004g0039 |
3 | 305 | 0.0098 | 12 | c.295 others(29): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 31/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42448390 | C | CTTTTACT others(5): Show |
intron_variant | MODIFIER | NA18956.hp2 NA18978.hp2 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0035 | a0001c0001t0009g0221 a0001c0001t0035g0243 |
2 | 308 | 0.0065 | 12 | c.289 others(31): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 30/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42448401 | C | CTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG00733.hp2 HG00735.hp1 HG02897.hp2 others(3): Show |
a0001a0006 | a0001c0001a0001c0003a0006c0011 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0001g0071 a0001c0001t0004g0025 a0001c0001t0005g0186 others(3): Show |
6 | 19 | 0.3158 | 12 | c.289 others(31): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 30/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42479995 | C | CGTGTGTG others(5): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0224 | 1 | 308 | 0.0032 | 12 | c.232 others(31): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 25/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42479996 | T | TTGTGTGT others(5): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00733.hp1 HG00735.hp2 others(45): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0046 a0001c0001t0001g0067 a0001c0001t0001g0069 others(45): Show |
48 | 90 | 0.5333 | 12 | c.232 others(31): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 25/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42555085 | G | GTATCTAT others(5): Show |
intron_variant | MODIFIER | HG00639.hp1 HG03239.hp1 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0008 | a0001c0001t0007g0122 a0001c0001t0008g0017 |
2 | 200 | 0.0100 | 12 | c.141 others(29): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 16/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42555138 | T | TATCTATC others(5): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0123 | 1 | 249 | 0.0040 | 12 | c.141 others(29): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 16/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42555139 | A | AATCTATC others(5): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00558.hp1 HG01256.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0157 a0001c0001t0002g0174 a0001c0001t0002g0175 others(2): Show |
5 | 173 | 0.0289 | 12 | c.141 others(29): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 16/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42555139 | A | ATCTAATC others(5): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0173 | 1 | 169 | 0.0059 | 12 | c.141 others(29): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 16/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42555139 | A | ATCTAATC others(5): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0268 | 1 | 169 | 0.0059 | 12 | c.141 others(29): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 16/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42555139 | A | ATCTATCT others(5): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01256.hp1 NA19064.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0015 a0001c0001t0003g0242 a0001c0001t0003g0274 |
3 | 171 | 0.0175 | 12 | c.141 others(29): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 16/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42555139 | A | ATCTATCT others(5): Show |
intron_variant | MODIFIER | HG01928.hp2 NA18940.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0013 | a0001c0001t0001g0050 a0001c0002t0013g0095 |
2 | 170 | 0.0118 | 12 | c.141 others(29): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 16/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42576475 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG01106.hp1 NA18980.hp2 NA19079.hp2 |
a0001a0006 | a0001c0001a0006c0011 | a0001c0001t0001a0001c0001t0008a0006c0011t0005 | a0001c0001t0001g0158 a0001c0001t0008g0136 a0006c0011t0005g0229 |
3 | 64 | 0.0469 | 12 | c.112 others(29): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 12/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42635778 | C | CATATATA others(5): Show |
intron_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 | 1 | 288 | 0.0035 | 12 | c.50- others(27): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 1/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42635780 | C | CATATATA others(5): Show |
intron_variant | MODIFIER | HG02738.hp2 NA18953.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0145 a0001c0001t0003g0206 |
2 | 226 | 0.0088 | 12 | c.50- others(27): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 1/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42635782 | C | CATATATA others(5): Show |
intron_variant | MODIFIER | HG02523.hp1 HG02970.hp2 NA19070.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0012 | a0001c0001t0003g0255 a0001c0001t0003g0257 a0001c0001t0012g0290 |
3 | 74 | 0.0405 | 12 | c.50- others(27): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 1/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42636154 | A | ACGCGTGC others(5): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0003 | 1 | 257 | 0.0039 | 12 | c.50- others(27): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 1/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42657060 | C | CGGTGGCG others(5): Show |
5_prime_UTR_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0310 | 1 | 308 | 0.0032 | 12 | c.-19 others(21): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 1/37 | 188 | chr4 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25435918 | T | TGTGTGTG others(5): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01069.hp1 HG01070.hp1 others(35): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0011others(30): Show | a0001c0001t0002g0079 a0001c0001t0004g0046 a0001c0001t0011g0062 others(35): Show |
38 | 120 | 0.3167 | 12 | c.77- others(29): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25461852 | A | AAGAAGGA others(5): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0003 | a0001c0003t0062 | a0001c0003t0062g0024 | 1 | 52 | 0.0192 | 12 | c.77- others(27): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25465663 | T | TTTTCTTT others(5): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0050 | a0001c0001t0050g0025 | 1 | 107 | 0.0093 | 12 | c.77- others(27): 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(5): Show |
intron_variant | MODIFIER | HG03540.hp2 NA19043.hp1 |
a0001 | a0001c0001a0001c0016 | a0001c0001t0072a0001c0016t0045 | a0001c0001t0072g0027 a0001c0016t0045g0105 |
2 | 63 | 0.0317 | 12 | c.77- 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(5): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0019 | a0001c0019t0007 | a0001c0019t0007g0028 | 1 | 36 | 0.0278 | 12 | c.77- others(27): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25465755 | C | CTCTCTCT others(5): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01175.hp1 HG01981.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0051a0001c0002t0002others(3): Show | a0001c0001t0004g0040 a0001c0001t0051g0053 a0001c0002t0002g0037 others(3): Show |
6 | 52 | 0.1154 | 12 | c.77- others(27): 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(5): Show |
intron_variant | MODIFIER | HG03654.hp1 HG06807.hp1 NA21309.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0010a0001c0001t0040a0001c0002t0005 | a0001c0001t0010g0100 a0001c0001t0040g0038 a0001c0002t0005g0034 |
3 | 35 | 0.0857 | 12 | c.222 others(31): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25513999 | G | GGAGGGAG others(5): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01069.hp1 HG01071.hp1 others(7): Show |
a0001 | a0001c0004a0001c0006 | a0001c0004t0002a0001c0004t0003a0001c0004t0004others(6): Show | a0001c0004t0002g0049 a0001c0004t0002g0080 a0001c0004t0003g0007 others(7): Show |
10 | 111 | 0.0901 | 12 | c.222 others(31): 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(5): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0053 | a0001c0001t0053g0114 | 1 | 21 | 0.0476 | 12 | 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 | 25531421 | A | ATTATATA others(5): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0062 a0001c0001t0011g0063 |
2 | 101 | 0.0198 | 12 | c.420 others(27): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25701723 | A | AACACACA others(5): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0062 a0001c0001t0011g0063 |
2 | 23 | 0.0870 | 12 | 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 | 25720167 | C | CTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG00741.hp1 HG02273.hp1 HG02886.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0009a0001c0001t0011a0001c0001t0064others(5): Show | a0001c0001t0009g0065 a0001c0001t0011g0061 a0001c0001t0064g0072 others(5): Show |
8 | 64 | 0.1250 | 12 | c.238 others(33): 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(5): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0005 | a0001c0005t0044 | a0001c0005t0044g0018 | 1 | 7 | 0.1429 | 12 | 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 | 25794820 | T | TACACACA others(5): Show |
intron_variant | MODIFIER | HG02809.hp1 HG02976.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0066a0001c0002t0039 | a0001c0001t0066g0092 a0001c0002t0039g0099 |
2 | 19 | 0.1053 | 12 | c.267 others(33): 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(5): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01261.hp2 HG03540.hp2 |
a0001 | a0001c0001a0001c0002a0001c0016 | a0001c0001t0017a0001c0002t0031a0001c0016t0045 | a0001c0001t0017g0051 a0001c0002t0031g0058 a0001c0016t0045g0105 |
3 | 13 | 0.2308 | 12 | c.275 others(31): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25829668 | G | GTGTATAT others(5): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0072 | a0001c0001t0072g0027 | 1 | 11 | 0.0909 | 12 | c.275 others(31): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25853394 | A | AATATATA others(5): Show |
intron_variant | MODIFIER | HG00738.hp1 HG03098.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0009a0001c0003t0060 | a0001c0001t0009g0065 a0001c0003t0060g0115 |
2 | 51 | 0.0392 | 12 | c.295 others(31): 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(5): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02630.hp1 HG02723.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0030a0001c0002t0070a0001c0003t0001others(5): Show | a0001c0001t0030g0091 a0001c0002t0070g0068 a0001c0003t0001g0106 others(5): Show |
8 | 29 | 0.2759 | 12 | c.318 others(33): 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(5): Show |
intron_variant | MODIFIER | HG03139.hp1 HG03453.hp1 NA18986.hp1 |
a0001 | a0001c0001a0001c0002a0001c0015 | a0001c0001t0048a0001c0002t0063a0001c0015t0008 | a0001c0001t0048g0122 a0001c0002t0063g0050 a0001c0015t0008g0015 |
3 | 57 | 0.0526 | 12 | c.318 others(33): 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(5): Show |
intron_variant | MODIFIER | HG00738.hp2 HG02280.hp1 HG02280.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0007others(3): Show | a0001c0001t0005a0001c0001t0018a0001c0001t0046others(11): Show | a0001c0001t0005g0102 a0001c0001t0018g0041 a0001c0001t0046g0045 others(11): Show |
14 | 66 | 0.2121 | 12 | c.318 others(33): 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(5): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0002 | a0001c0002t0070 | a0001c0002t0070g0068 | 1 | 17 | 0.0588 | 12 | c.318 others(33): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 33/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25977026 | T | TCCACCCC others(5): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02258.hp2 HG02886.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0041a0001c0002t0023a0001c0003t0073others(3): Show | a0001c0001t0041g0044 a0001c0002t0023g0013 a0001c0003t0073g0001 others(3): Show |
6 | 82 | 0.0732 | 12 | c.337 others(31): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 35/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar |