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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP8A1_chr4_42403373_42662105 | 42627021 | C | T | synonymous_variant | LOW | HG00733.hp2 HG00735.hp1 HG01074.hp1 others(27): Show |
a0001a0002 | a0001c0003a0001c0004a0002c0007 | a0001c0003t0001a0001c0003t0002a0001c0003t0003others(10): Show | a0001c0003t0001g0173a0001c0003t0002g0168a0001c0003t0002g0169others(27): Show | 30 | 310 | 0.0968 | 0 | c.138 others(3): Show |
p.Leu others(5): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 2/37 | 370/8270 | 138/3495 | 46/1164 | chr4 | TogoVar | ||
ATP8A2_chr13_25366974_26030851 | 25469044 | A | C | synonymous_variant | LOW | HG00738.hp1 HG01109.hp2 HG01175.hp2 others(28): Show |
a0001 | a0001c0003a0001c0005a0001c0008others(5): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0006others(27): Show | a0001c0003t0001g0106a0001c0003t0002g0108a0001c0003t0006g0078others(28): Show | 31 | 122 | 0.2541 | 0 | c.144 others(3): Show |
p.Gly others(5): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 2/37 | 383/9672 | 144/3567 | 48/1188 | chr13 | TogoVar | ||
ATP8A2_chr13_25366974_26030851 | 25469107 | C | T | synonymous_variant | LOW | HG02630.hp1 | a0001 | a0001c0017 | a0001c0017t0036 | a0001c0017t0036g0019 | 1 | 122 | 0.0082 | 0 | c.207 others(3): Show |
p.Arg others(5): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 2/37 | 446/9672 | 207/3567 | 69/1188 | chr13 | TogoVar | ||
ATP8A2_chr13_25366974_26030851 | 25551352 | G | A | synonymous_variant | LOW | HG00642.hp2 HG01069.hp1 HG01071.hp1 others(11): Show |
a0001 | a0001c0004a0001c0006a0001c0010others(1): Show | a0001c0004t0002a0001c0004t0003a0001c0004t0004others(10): Show | a0001c0004t0002g0049a0001c0004t0002g0080a0001c0004t0003g0007others(11): Show | 14 | 122 | 0.1148 | 0 | c.906 others(3): Show |
p.Ala others(6): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 11/37 | 1145/9672 | 906/3567 | 302/1188 | chr13 | TogoVar | ||
ATP8A2_chr13_25366974_26030851 | 25559748 | G | A | synonymous_variant | LOW | HG01175.hp2 HG01496.hp1 HG02976.hp2 |
a0001 | a0001c0011a0001c0018a0001c0019 | a0001c0011t0017a0001c0018t0024a0001c0019t0007 | a0001c0011t0017g0121a0001c0018t0024g0066a0001c0019t0007g0029 | 3 | 122 | 0.0246 | 0 | c.138 others(4): Show |
p.Pro others(6): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 15/37 | 1619/9672 | 1380/3567 | 460/1188 | chr13 | TogoVar | ||
ATP8A2_chr13_25366974_26030851 | 25574828 | C | T | synonymous_variant | LOW | HG00642.hp1 HG00642.hp2 HG00738.hp1 others(77): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(71): Show | a0001c0001t0001g0036a0001c0001t0002g0079a0001c0001t0003g0093others(77): Show | 80 | 122 | 0.6557 | 0 | c.168 others(4): Show |
p.Phe others(6): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 19/37 | 1922/9672 | 1683/3567 | 561/1188 | chr13 | TogoVar | ||
ATP8A2_chr13_25366974_26030851 | 25574849 | A | G | synonymous_variant | LOW | HG02647.hp2 | a0001 | a0001c0014 | a0001c0014t0034 | a0001c0014t0034g0064 | 1 | 122 | 0.0082 | 0 | c.170 others(4): Show |
p.Glu others(6): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 19/37 | 1943/9672 | 1704/3567 | 568/1188 | chr13 | TogoVar | ||
ATP8A2_chr13_25366974_26030851 | 25699247 | G | C | synonymous_variant | LOW | HG00642.hp1 HG00642.hp2 HG00738.hp1 others(112): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(99): Show | a0001c0001t0001g0036a0001c0001t0002g0079a0001c0001t0003g0093others(112): Show | 115 | 122 | 0.9426 | 0 | c.228 others(4): Show |
p.Leu others(6): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 25/37 | 2525/9672 | 2286/3567 | 762/1188 | chr13 | TogoVar | ||
ATP8A2_chr13_25366974_26030851 | 25699265 | C | A | synonymous_variant | LOW | HG01358.hp1 HG02723.hp2 HG02886.hp1 others(7): Show |
a0001 | a0001c0005a0001c0007a0001c0010others(1): Show | a0001c0005t0012a0001c0005t0021a0001c0005t0023others(7): Show | a0001c0005t0012g0020a0001c0005t0021g0030a0001c0005t0023g0002others(7): Show | 10 | 122 | 0.0820 | 0 | c.230 others(4): Show |
p.Thr others(6): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 25/37 | 2543/9672 | 2304/3567 | 768/1188 | chr13 | TogoVar | ||
ATP8A2_chr13_25366974_26030851 | 25769220 | C | T | synonymous_variant | LOW | HG03540.hp2 | a0001 | a0001c0016 | a0001c0016t0045 | a0001c0016t0045g0105 | 1 | 122 | 0.0082 | 0 | c.255 others(4): Show |
p.Ala others(6): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 26/37 | 2798/9672 | 2559/3567 | 853/1188 | chr13 | TogoVar | ||
ATP8A2_chr13_25366974_26030851 | 25774881 | T | C | synonymous_variant | LOW | HG03139.hp1 | a0001 | a0001c0015 | a0001c0015t0008 | a0001c0015t0008g0015 | 1 | 122 | 0.0082 | 0 | c.260 others(4): Show |
p.His others(6): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 27/37 | 2840/9672 | 2601/3567 | 867/1188 | chr13 | TogoVar | ||
ATP8A2_chr13_25366974_26030851 | 25860860 | A | G | splice_region_variant others(1): Show |
LOW | HG01069.hp2 | a0001 | a0001c0012 | a0001c0012t0002 | a0001c0012t0002g0110 | 1 | 122 | 0.0082 | 0 | c.307 others(4): Show |
p.Lys others(7): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 32/37 | 3314/9672 | 3075/3567 | 1025/1188 | chr13 | TogoVar | ||
ATP8B1_chr18_57641426_57808315 | 57648500 | G | T | synonymous_variant | LOW | HG02080.hp1 NA18939.hp1 NA18939.hp2 others(7): Show |
a0002 | a0002c0002 | a0002c0002t0014a0002c0002t0019a0002c0002t0037 | a0002c0002t0014g0207a0002c0002t0014g0229a0002c0002t0014g0237others(7): Show | 10 | 314 | 0.0319 | 0 | c.374 others(4): Show |
p.Thr others(7): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 28/28 | 4087/6161 | 3744/3756 | 1248/1251 | chr18 | TogoVar | ||
ATP8B1_chr18_57641426_57808315 | 57648545 | C | T | synonymous_variant | LOW | HG01884.hp1 NA20129.hp2 |
a0001a0007 | a0001c0014a0007c0011 | a0001c0014t0008a0007c0011t0008 | a0001c0014t0008g0123a0007c0011t0008g0084 | 2 | 314 | 0.0064 | 0 | c.369 others(4): Show |
p.Pro others(7): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 28/28 | 4042/6161 | 3699/3756 | 1233/1251 | chr18 | TogoVar | ||
ATP8B1_chr18_57641426_57808315 | 57650421 | G | A | synonymous_variant | LOW | HG02080.hp1 NA18939.hp1 NA18939.hp2 others(7): Show |
a0002 | a0002c0002 | a0002c0002t0014a0002c0002t0019a0002c0002t0037 | a0002c0002t0014g0207a0002c0002t0014g0229a0002c0002t0014g0237others(7): Show | 10 | 314 | 0.0319 | 0 | c.347 others(4): Show |
p.Pro others(7): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 27/28 | 3820/6161 | 3477/3756 | 1159/1251 | chr18 | TogoVar | ||
ATP8B1_chr18_57641426_57808315 | 57655329 | C | T | synonymous_variant | LOW | HG01891.hp1 | a0001 | a0001c0012 | a0001c0012t0035 | a0001c0012t0035g0008 | 1 | 314 | 0.0032 | 0 | c.279 others(4): Show |
p.Leu others(6): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 23/28 | 3139/6161 | 2796/3756 | 932/1251 | chr18 | TogoVar | ||
ATP8B1_chr18_57641426_57808315 | 57661217 | C | A | synonymous_variant | LOW | HG02970.hp2 | a0004 | a0004c0008 | a0004c0008t0004 | a0004c0008t0004g0004 | 1 | 314 | 0.0032 | 0 | c.266 others(4): Show |
p.Thr others(6): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 22/28 | 3007/6161 | 2664/3756 | 888/1251 | chr18 | TogoVar | ||
ATP8B1_chr18_57641426_57808315 | 57695228 | A | G | synonymous_variant | LOW | HG00735.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0114 | 1 | 314 | 0.0032 | 0 | c.883 others(3): Show |
p.Leu others(6): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 10/28 | 1226/6161 | 883/3756 | 295/1251 | chr18 | TogoVar | ||
ATP8B1_chr18_57641426_57808315 | 57695300 | T | G | synonymous_variant | LOW | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(309): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0005a0001c0006others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(57): Show | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0009others(309): Show | 312 | 314 | 0.9936 | 0 | c.811 others(3): Show |
p.Arg others(6): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 10/28 | 1154/6161 | 811/3756 | 271/1251 | chr18 | TogoVar | ||
ATP8B1_chr18_57641426_57808315 | 57697620 | A | G | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(309): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0005a0001c0006others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(57): Show | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0009others(309): Show | 312 | 314 | 0.9936 | 0 | c.696 others(3): Show |
p.Asp others(6): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 8/28 | 1039/6161 | 696/3756 | 232/1251 | chr18 | TogoVar | ||
ATP8B1_chr18_57641426_57808315 | 57701044 | A | G | synonymous_variant | LOW | NA19009.hp2 | a0001 | a0001c0005 | a0001c0005t0016 | a0001c0005t0016g0056 | 1 | 314 | 0.0032 | 0 | c.549 others(3): Show |
p.Asp others(6): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 6/28 | 892/6161 | 549/3756 | 183/1251 | chr18 | TogoVar | ||
ATP8B1_chr18_57641426_57808315 | 57701274 | G | A | synonymous_variant | LOW | HG03831.hp2 | a0001 | a0001c0019 | a0001c0019t0031 | a0001c0019t0031g0062 | 1 | 314 | 0.0032 | 0 | c.433 others(3): Show |
p.Leu others(6): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 5/28 | 776/6161 | 433/3756 | 145/1251 | chr18 | TogoVar | ||
ATP8B1_chr18_57641426_57808315 | 57706562 | G | A | synonymous_variant | LOW | NA19065.hp2 | a0001 | a0001c0018 | a0001c0018t0007 | a0001c0018t0007g0234 | 1 | 314 | 0.0032 | 0 | c.207 others(3): Show |
p.Asn others(5): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 3/28 | 550/6161 | 207/3756 | 69/1251 | chr18 | TogoVar | ||
ATP8B1_chr18_57641426_57808315 | 57706580 | T | C | synonymous_variant | LOW | HG03831.hp2 | a0001 | a0001c0019 | a0001c0019t0031 | a0001c0019t0031g0062 | 1 | 314 | 0.0032 | 0 | c.189 others(3): Show |
p.Thr others(5): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 3/28 | 532/6161 | 189/3756 | 63/1251 | chr18 | TogoVar | ||
ATP8B2_chr1_154320525_154356304 | 154328150 | G | A | synonymous_variant | LOW | HG02129.hp1 | a0001 | a0001c0015 | a0001c0015t0015 | a0001c0015t0015g0001 | 1 | 382 | 0.0026 | 0 | c.9G> others(1): Show |
p.Val others(4): Show |
ATP8B2 | ENSG00000143515.20 | transcript | ENST00000368489.6 | protein_coding | 2/28 | 224/5974 | 9/3573 | 3/1190 | chr1 | TogoVar | ||
ATP8B2_chr1_154320525_154356304 | 154328153 | T | C | synonymous_variant | LOW | HG02615.hp1 HG02896.hp2 HG03453.hp2 others(3): Show |
a0001a0005 | a0001c0007a0005c0016 | a0001c0007t0004a0001c0007t0006a0005c0016t0004 | a0001c0007t0004g0133a0001c0007t0004g0134a0001c0007t0006g0131others(3): Show | 6 | 382 | 0.0157 | 0 | c.12T others(2): Show |
p.Cys others(4): Show |
ATP8B2 | ENSG00000143515.20 | transcript | ENST00000368489.6 | protein_coding | 2/28 | 227/5974 | 12/3573 | 4/1190 | chr1 | TogoVar | ||
ATP8B2_chr1_154320525_154356304 | 154330868 | C | T | synonymous_variant | LOW | NA18959.hp2 NA18994.hp2 |
a0001 | a0001c0014 | a0001c0014t0003 | a0001c0014t0003g0030a0001c0014t0003g0120 | 2 | 382 | 0.0052 | 0 | c.144 others(3): Show |
p.Asn others(5): Show |
ATP8B2 | ENSG00000143515.20 | transcript | ENST00000368489.6 | protein_coding | 4/28 | 359/5974 | 144/3573 | 48/1190 | chr1 | TogoVar | ||
ATP8B2_chr1_154320525_154356304 | 154331056 | C | G | synonymous_variant | LOW | NA18957.hp2 | a0001 | a0001c0026 | a0001c0026t0001 | a0001c0026t0001g0005 | 1 | 382 | 0.0026 | 0 | c.213 others(3): Show |
p.Pro others(5): Show |
ATP8B2 | ENSG00000143515.20 | transcript | ENST00000368489.6 | protein_coding | 5/28 | 428/5974 | 213/3573 | 71/1190 | chr1 | TogoVar | ||
ATP8B2_chr1_154320525_154356304 | 154331500 | T | C | synonymous_variant | LOW | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(130): Show |
a0001a0002a0003others(2): Show | a0001c0003a0001c0004a0001c0006others(5): Show | a0001c0003t0002a0001c0003t0009a0001c0003t0025others(17): Show | a0001c0003t0002g0004a0001c0003t0002g0010a0001c0003t0002g0026others(72): Show | 133 | 382 | 0.3482 | 0 | c.360 others(3): Show |
p.Asn others(6): Show |
ATP8B2 | ENSG00000143515.20 | transcript | ENST00000368489.6 | protein_coding | 6/28 | 575/5974 | 360/3573 | 120/1190 | chr1 | TogoVar | ||
ATP8B2_chr1_154320525_154356304 | 154332645 | G | A | synonymous_variant | LOW | HG01109.hp2 HG01433.hp1 HG02886.hp2 others(4): Show |
a0001 | a0001c0006 | a0001c0006t0007 | a0001c0006t0007g0014a0001c0006t0007g0090a0001c0006t0007g0093 | 7 | 382 | 0.0183 | 0 | c.537 others(3): Show |
p.Ala others(6): Show |
ATP8B2 | ENSG00000143515.20 | transcript | ENST00000368489.6 | protein_coding | 9/28 | 752/5974 | 537/3573 | 179/1190 | chr1 | TogoVar | ||
ATP8B2_chr1_154320525_154356304 | 154334162 | C | G | synonymous_variant | LOW | HG02615.hp1 HG02896.hp2 HG03453.hp2 others(3): Show |
a0001a0005 | a0001c0007a0005c0016 | a0001c0007t0004a0001c0007t0006a0005c0016t0004 | a0001c0007t0004g0133a0001c0007t0004g0134a0001c0007t0006g0131others(3): Show | 6 | 382 | 0.0157 | 0 | c.645 others(3): Show |
p.Leu others(6): Show |
ATP8B2 | ENSG00000143515.20 | transcript | ENST00000368489.6 | protein_coding | 10/28 | 860/5974 | 645/3573 | 215/1190 | chr1 | TogoVar | ||
ATP8B2_chr1_154320525_154356304 | 154340959 | C | T | synonymous_variant | LOW | HG02809.hp1 HG02976.hp2 HG03453.hp1 others(1): Show |
a0001 | a0001c0009 | a0001c0009t0004 | a0001c0009t0004g0033a0001c0009t0004g0153a0001c0009t0004g0154 | 4 | 382 | 0.0105 | 0 | c.114 others(4): Show |
p.Asn others(6): Show |
ATP8B2 | ENSG00000143515.20 | transcript | ENST00000368489.6 | protein_coding | 13/28 | 1355/5974 | 1140/3573 | 380/1190 | chr1 | TogoVar | ||
ATP8B2_chr1_154320525_154356304 | 154343547 | C | T | synonymous_variant | LOW | HG02257.hp2 HG02630.hp2 NA18522.hp2 |
a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0023 | 3 | 382 | 0.0079 | 0 | c.173 others(4): Show |
p.Asn others(6): Show |
ATP8B2 | ENSG00000143515.20 | transcript | ENST00000368489.6 | protein_coding | 17/28 | 1952/5974 | 1737/3573 | 579/1190 | chr1 | TogoVar | ||
ATP8B2_chr1_154320525_154356304 | 154343958 | C | T | synonymous_variant | LOW | HG00099.hp2 HG00140.hp2 HG00323.hp2 others(92): Show |
a0001a0002a0003others(2): Show | a0001c0003a0001c0005a0001c0006others(4): Show | a0001c0003t0002a0001c0003t0009a0001c0003t0025others(10): Show | a0001c0003t0002g0004a0001c0003t0002g0010a0001c0003t0002g0026others(53): Show | 95 | 382 | 0.2487 | 0 | c.182 others(4): Show |
p.Tyr others(6): Show |
ATP8B2 | ENSG00000143515.20 | transcript | ENST00000368489.6 | protein_coding | 18/28 | 2039/5974 | 1824/3573 | 608/1190 | chr1 | TogoVar | ||
ATP8B2_chr1_154320525_154356304 | 154344677 | C | T | synonymous_variant | LOW | HG00544.hp1 HG00609.hp2 HG00639.hp2 others(129): Show |
a0001a0008a0009others(1): Show | a0001c0001a0001c0010a0001c0015others(4): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0012others(10): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0006others(61): Show | 132 | 382 | 0.3456 | 0 | c.217 others(4): Show |
p.Ser others(6): Show |
ATP8B2 | ENSG00000143515.20 | transcript | ENST00000368489.6 | protein_coding | 21/28 | 2393/5974 | 2178/3573 | 726/1190 | chr1 | TogoVar | ||
ATP8B2_chr1_154320525_154356304 | 154345018 | G | A | synonymous_variant | LOW | NA19085.hp2 | a0001 | a0001c0017 | a0001c0017t0005 | a0001c0017t0005g0032 | 1 | 382 | 0.0026 | 0 | c.233 others(4): Show |
p.Ala others(6): Show |
ATP8B2 | ENSG00000143515.20 | transcript | ENST00000368489.6 | protein_coding | 22/28 | 2549/5974 | 2334/3573 | 778/1190 | chr1 | TogoVar | ||
ATP8B2_chr1_154320525_154356304 | 154348466 | A | G | synonymous_variant | LOW | HG00099.hp2 HG00140.hp2 HG00323.hp2 others(94): Show |
a0001a0002a0003others(2): Show | a0001c0003a0001c0005a0001c0006others(5): Show | a0001c0003t0002a0001c0003t0009a0001c0003t0025others(11): Show | a0001c0003t0002g0004a0001c0003t0002g0010a0001c0003t0002g0026others(55): Show | 97 | 382 | 0.2539 | 0 | c.322 others(4): Show |
p.Thr others(7): Show |
ATP8B2 | ENSG00000143515.20 | transcript | ENST00000368489.6 | protein_coding | 27/28 | 3437/5974 | 3222/3573 | 1074/1190 | chr1 | TogoVar | ||
ATP8B3_chr19_1777075_1817276 | 1783262 | C | T | synonymous_variant | LOW | HG00140.hp1 HG00323.hp1 HG00438.hp1 others(111): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0011a0001c0031others(11): Show | a0001c0001t0001a0001c0001t0006a0001c0011t0001others(15): Show | a0001c0001t0001g0001a0001c0001t0001g0014a0001c0001t0001g0030others(110): Show | 114 | 390 | 0.2923 | 0 | c.366 others(4): Show |
p.Lys others(7): Show |
ATP8B3 | ENSG00000130270.16 | transcript | ENST00000310127.10 | protein_coding | 29/29 | 3908/5095 | 3669/3903 | 1223/1300 | chr19 | TogoVar | ||
ATP8B3_chr19_1777075_1817276 | 1784891 | A | G | synonymous_variant | LOW | HG00140.hp1 HG00323.hp1 HG00438.hp1 others(156): Show |
a0000a0001a0002others(8): Show | a0000c0020a0000c0023a0000c0027others(39): Show | a0000c0020t0007a0000c0020t0008a0000c0023t0007others(46): Show | a0000c0020t0007g0008a0000c0020t0007g0050a0000c0020t0007g0075others(155): Show | 159 | 390 | 0.4077 | 0 | c.358 others(4): Show |
p.Ser others(7): Show |
ATP8B3 | ENSG00000130270.16 | transcript | ENST00000310127.10 | protein_coding | 28/29 | 3827/5095 | 3588/3903 | 1196/1300 | chr19 | TogoVar | ||
ATP8B3_chr19_1777075_1817276 | 1784945 | A | G | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG00323.hp1 HG00438.hp1 others(155): Show |
a0000a0001a0002others(8): Show | a0000c0020a0000c0023a0000c0027others(38): Show | a0000c0020t0007a0000c0020t0008a0000c0023t0007others(45): Show | a0000c0020t0007g0008a0000c0020t0007g0050a0000c0020t0007g0075others(154): Show | 158 | 390 | 0.4051 | 0 | c.353 others(4): Show |
p.Tyr others(7): Show |
ATP8B3 | ENSG00000130270.16 | transcript | ENST00000310127.10 | protein_coding | 28/29 | 3773/5095 | 3534/3903 | 1178/1300 | chr19 | TogoVar | ||
ATP8B3_chr19_1777075_1817276 | 1785628 | G | C | synonymous_variant | LOW | HG02280.hp2 | a0001 | a0001c0062 | a0001c0062t0002 | a0001c0062t0002g0107 | 1 | 390 | 0.0026 | 0 | c.323 others(4): Show |
p.Val others(7): Show |
ATP8B3 | ENSG00000130270.16 | transcript | ENST00000310127.10 | protein_coding | 26/29 | 3473/5095 | 3234/3903 | 1078/1300 | chr19 | TogoVar | ||
ATP8B3_chr19_1777075_1817276 | 1789065 | G | A | synonymous_variant | LOW | HG02280.hp1 | a0002 | a0002c0049 | a0002c0049t0005 | a0002c0049t0005g0239 | 1 | 390 | 0.0026 | 0 | c.290 others(4): Show |
p.Asn others(6): Show |
ATP8B3 | ENSG00000130270.16 | transcript | ENST00000310127.10 | protein_coding | 24/29 | 3140/5095 | 2901/3903 | 967/1300 | chr19 | TogoVar | ||
ATP8B3_chr19_1777075_1817276 | 1789422 | C | T | synonymous_variant | LOW | HG02559.hp2 HG02976.hp1 HG03453.hp2 |
a0001a0002 | a0001c0028a0002c0047 | a0001c0028t0002a0001c0028t0009a0002c0047t0004 | a0001c0028t0002g0054a0001c0028t0009g0007a0002c0047t0004g0366 | 3 | 390 | 0.0077 | 0 | c.278 others(4): Show |
p.Lys others(6): Show |
ATP8B3 | ENSG00000130270.16 | transcript | ENST00000310127.10 | protein_coding | 23/29 | 3023/5095 | 2784/3903 | 928/1300 | chr19 | TogoVar | ||
ATP8B3_chr19_1777075_1817276 | 1789557 | C | T | synonymous_variant | LOW | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(115): Show |
a0000a0001a0002others(13): Show | a0000c0043a0000c0046a0000c0058others(20): Show | a0000c0043t0008a0000c0046t0008a0000c0058t0008others(25): Show | a0000c0043t0008g0247a0000c0046t0008g0358a0000c0058t0008g0379others(113): Show | 118 | 390 | 0.3026 | 0 | c.264 others(4): Show |
p.Gln others(6): Show |
ATP8B3 | ENSG00000130270.16 | transcript | ENST00000310127.10 | protein_coding | 23/29 | 2888/5095 | 2649/3903 | 883/1300 | chr19 | TogoVar | ||
ATP8B3_chr19_1777075_1817276 | 1789722 | T | C | synonymous_variant | LOW | HG01070.hp1 HG01071.hp1 HG01243.hp2 others(27): Show |
a0000a0001a0002others(2): Show | a0000c0020a0000c0023a0000c0027others(13): Show | a0000c0020t0007a0000c0020t0008a0000c0023t0007others(15): Show | a0000c0020t0007g0008a0000c0020t0007g0050a0000c0020t0007g0075others(27): Show | 30 | 390 | 0.0769 | 0 | c.248 others(4): Show |
p.Lys others(6): Show |
ATP8B3 | ENSG00000130270.16 | transcript | ENST00000310127.10 | protein_coding | 23/29 | 2723/5095 | 2484/3903 | 828/1300 | chr19 | TogoVar | ||
ATP8B3_chr19_1777075_1817276 | 1800390 | G | C | synonymous_variant | LOW | NA18612.hp2 | a0005 | a0005c0056 | a0005c0056t0003 | a0005c0056t0003g0027 | 1 | 390 | 0.0026 | 0 | c.121 others(4): Show |
p.Val others(6): Show |
ATP8B3 | ENSG00000130270.16 | transcript | ENST00000310127.10 | protein_coding | 13/29 | 1451/5095 | 1212/3903 | 404/1300 | chr19 | TogoVar | ||
ATP8B3_chr19_1777075_1817276 | 1808261 | G | T | synonymous_variant | LOW | NA19070.hp1 | a0001 | a0001c0052 | a0001c0052t0003 | a0001c0052t0003g0043 | 1 | 390 | 0.0026 | 0 | c.477 others(3): Show |
p.Arg others(6): Show |
ATP8B3 | ENSG00000130270.16 | transcript | ENST00000310127.10 | protein_coding | 5/29 | 716/5095 | 477/3903 | 159/1300 | chr19 | TogoVar | ||
ATP8B3_chr19_1777075_1817276 | 1808276 | G | A | synonymous_variant | LOW | HG00280.hp2 HG00323.hp2 HG00741.hp1 others(4): Show |
a0000a0001 | a0000c0032a0001c0024a0001c0031 | a0000c0032t0007a0001c0024t0002a0001c0031t0001 | a0000c0032t0007g0129a0000c0032t0007g0130a0001c0024t0002g0131others(4): Show | 7 | 390 | 0.0180 | 0 | c.462 others(3): Show |
p.Tyr others(6): Show |
ATP8B3 | ENSG00000130270.16 | transcript | ENST00000310127.10 | protein_coding | 5/29 | 701/5095 | 462/3903 | 154/1300 | chr19 | TogoVar | ||
ATP8B3_chr19_1777075_1817276 | 1811548 | A | G | synonymous_variant | LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(312): Show |
a0000a0001a0002others(17): Show | a0000c0020a0000c0023a0000c0027others(56): Show | a0000c0020t0007a0000c0020t0008a0000c0023t0007others(78): Show | a0000c0020t0007g0008a0000c0020t0007g0050a0000c0020t0007g0075others(309): Show | 315 | 390 | 0.8077 | 0 | c.189 others(3): Show |
p.Pro others(5): Show |
ATP8B3 | ENSG00000130270.16 | transcript | ENST00000310127.10 | protein_coding | 2/29 | 428/5095 | 189/3903 | 63/1300 | chr19 | TogoVar | ||
ATP8B3_chr19_1777075_1817276 | 1811653 | C | T | synonymous_variant | LOW | HG03516.hp2 | a0003 | a0003c0039 | a0003c0039t0005 | a0003c0039t0005g0245 | 1 | 390 | 0.0026 | 0 | c.84G others(2): Show |
p.Thr others(5): Show |
ATP8B3 | ENSG00000130270.16 | transcript | ENST00000310127.10 | protein_coding | 2/29 | 323/5095 | 84/3903 | 28/1300 | chr19 | TogoVar |