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 | 42636154 | A | ACGCGCGT others(7): Show |
intron_variant | MODIFIER | HG00639.hp2 NA19085.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0063 a0001c0001t0008g0076 |
2 | 258 | 0.0078 | 14 | c.50- others(29): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 1/36 | chr4 | TogoVar | |||||||
ATP8A2_chr13_25366974_26030851 | 25506940 | C | CATATATA others(7): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01261.hp2 HG02257.hp2 |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0017a0001c0001t0026 | a0001c0001t0011g0061 a0001c0001t0017g0051 a0001c0001t0026g0089 |
3 | 35 | 0.0857 | 14 | 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 | 25720167 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0003 | a0001c0003t0062 | a0001c0003t0062g0024 | 1 | 57 | 0.0175 | 14 | c.238 others(35): 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(7): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0017 | a0001c0017t0036 | a0001c0017t0036g0019 | 1 | 16 | 0.0625 | 14 | c.267 others(35): 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(7): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0014 | a0001c0014t0034 | a0001c0014t0034g0064 | 1 | 18 | 0.0556 | 14 | c.267 others(35): 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(7): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0007 | a0001c0007t0007 | a0001c0007t0007g0094 | 1 | 5 | 0.2000 | 14 | c.268 others(35): 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(7): Show |
intron_variant | MODIFIER | HG01109.hp1 HG03486.hp1 |
a0001 | a0001c0002a0001c0005 | a0001c0002t0022a0001c0005t0044 | a0001c0002t0022g0117 a0001c0005t0044g0018 |
2 | 12 | 0.1667 | 14 | c.275 others(33): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25829718 | A | ATATATAT others(7): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0003 | a0001c0003t0069 | a0001c0003t0069g0012 | 1 | 120 | 0.0083 | 14 | c.275 others(33): 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(7): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0118 | 1 | 94 | 0.0106 | 14 | c.295 others(33): 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(7): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0060 | 1 | 50 | 0.0200 | 14 | c.295 others(33): 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(7): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01496.hp1 HG02257.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0016a0001c0001t0019a0001c0001t0035others(16): Show | a0001c0001t0016g0104 a0001c0001t0019g0005 a0001c0001t0035g0043 others(16): Show |
19 | 40 | 0.4750 | 14 | c.318 others(35): 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(7): Show |
intron_variant | MODIFIER | HG02630.hp2 NA21309.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0016a0001c0003t0052 | a0001c0001t0016g0104 a0001c0003t0052g0113 |
2 | 56 | 0.0357 | 14 | c.318 others(35): 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(7): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01069.hp1 HG01071.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0002a0001c0001t0050a0001c0001t0051others(12): Show | a0001c0001t0002g0079 a0001c0001t0050g0025 a0001c0001t0051g0053 others(12): Show |
15 | 67 | 0.2239 | 14 | c.318 others(35): 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(7): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01243.hp1 HG01358.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0013a0001c0001t0015a0001c0002t0001others(16): Show | a0001c0001t0013g0006 a0001c0001t0015g0082 a0001c0002t0001g0060 others(16): Show |
19 | 35 | 0.5429 | 14 | c.318 others(35): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 33/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25937364 | T | TTCTTTTT others(7): Show |
intron_variant | MODIFIER | HG02809.hp1 HG02809.hp2 NA19030.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0019a0001c0001t0074a0001c0002t0039others(1): Show | a0001c0001t0019g0005 a0001c0001t0074g0116 a0001c0002t0039g0099 others(1): Show |
4 | 119 | 0.0336 | 14 | c.318 others(35): 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(7): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01346.hp2 HG01361.hp2 others(15): Show |
a0001a0003a0009 | a0001c0001a0003c0003a0009c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0016 a0001c0001t0001g0061 a0001c0001t0001g0066 others(15): Show |
18 | 28 | 0.6429 | 14 | c.353 others(31): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 27/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57658627 | T | TTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0297 | 1 | 80 | 0.0125 | 14 | c.270 others(33): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 22/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57672883 | A | AGTATATA others(7): Show |
intron_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0258 | 1 | 212 | 0.0047 | 14 | c.182 others(33): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 16/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57756653 | T | TTCTCTCT others(7): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00733.hp2 |
a0003 | a0003c0003 | a0003c0003t0024 | a0003c0003t0024g0144 a0003c0003t0024g0185 |
2 | 167 | 0.0120 | 14 | c.-25 others(33): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | |||||||
ATP8B3_chr19_1777075_1817276 | 1778866 | T | TCACACAC others(7): Show |
downstream_gene_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0024 | a0001c0024t0002 | a0001c0024t0002g0133 | 1 | 133 | 0.0075 | 14 | c.*41 others(25): Show |
ATP8B3 | ENSG00000130270.16 | transcript | ENST00000310127.10 | protein_coding | 3208 | chr19 | TogoVar | |||||||
ATP8B3_chr19_1777075_1817276 | 1778891 | C | CACACACA others(7): Show |
downstream_gene_variant | MODIFIER | HG02976.hp2 | a0002 | a0002c0026 | a0002c0026t0012 | a0002c0026t0012g0280 | 1 | 324 | 0.0031 | 14 | c.*41 others(25): Show |
ATP8B3 | ENSG00000130270.16 | transcript | ENST00000310127.10 | protein_coding | 3183 | chr19 | TogoVar | |||||||
ATP8B4_chr15_49853238_50124233 | 49978739 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | HG01069.hp1 HG02922.hp2 HG03669.hp1 others(4): Show |
a0001a0002a0011 | a0001c0001a0002c0002a0011c0012 | a0001c0001t0002a0002c0002t0001a0002c0002t0002others(2): Show | a0001c0001t0002g0032 a0002c0002t0001g0117 a0002c0002t0001g0165 others(4): Show |
7 | 44 | 0.1591 | 14 | c.103 others(31): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 12/27 | chr15 | TogoVar | |||||||
ATP8B4_chr15_49853238_50124233 | 50003274 | A | ATGTGTGT others(7): Show |
intron_variant | MODIFIER | HG00735.hp2 HG02615.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0015a0002c0002t0003 | a0001c0001t0015g0006 a0002c0002t0003g0205 |
2 | 102 | 0.0196 | 14 | c.436 others(31): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 7/27 | chr15 | TogoVar | |||||||
ATP8B4_chr15_49853238_50124233 | 50072980 | C | CTCTCTCT others(7): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0232 | 1 | 182 | 0.0055 | 14 | c.87+ others(29): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 3/27 | chr15 | TogoVar | |||||||
ATP8B4_chr15_49853238_50124233 | 50073019 | T | TATATATA others(7): Show |
intron_variant | MODIFIER | NA18969.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0051 | 1 | 135 | 0.0074 | 14 | c.87+ others(29): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 3/27 | chr15 | TogoVar | |||||||
ATP8B4_chr15_49853238_50124233 | 50073019 | T | TATATATA others(7): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0002 | 1 | 135 | 0.0074 | 14 | c.87+ others(29): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 3/27 | chr15 | TogoVar | |||||||
ATP8B4_chr15_49853238_50124233 | 50073019 | T | TATATATA others(7): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0159 | 1 | 135 | 0.0074 | 14 | c.87+ others(29): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 3/27 | chr15 | TogoVar | |||||||
ATP8B4_chr15_49853238_50124233 | 50085934 | T | TATATGAT others(7): Show |
intron_variant | MODIFIER | HG01255.hp1 HG02109.hp2 HG02145.hp1 others(5): Show |
a0001a0003a0007 | a0001c0001a0003c0003a0007c0008 | a0001c0001t0001a0001c0001t0002a0003c0003t0001others(1): Show | a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0181 others(5): Show |
8 | 251 | 0.0319 | 14 | c.29- others(31): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 2/27 | chr15 | TogoVar | |||||||
ATP8B4_chr15_49853238_50124233 | 50085960 | T | TATATGAT others(7): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 238 | 0.0042 | 14 | c.29- others(31): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 2/27 | chr15 | TogoVar | |||||||
ATP8B4_chr15_49853238_50124233 | 50085962 | T | TATATGAT others(7): Show |
intron_variant | MODIFIER | HG00558.hp1 NA18977.hp1 NA19054.hp2 |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0001 | a0002c0002t0001g0229 a0003c0003t0001g0156 a0003c0003t0001g0157 |
3 | 244 | 0.0123 | 14 | c.29- others(31): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 2/27 | chr15 | TogoVar | |||||||
ATP8B4_chr15_49853238_50124233 | 50104866 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00639.hp2 others(21): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0014a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(12): Show | a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0115 others(21): Show |
24 | 43 | 0.5581 | 14 | c.28+ others(29): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 2/27 | chr15 | TogoVar | |||||||
ATP8B4_chr15_49853238_50124233 | 50104866 | T | TATACACA others(7): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0017 | 1 | 20 | 0.0500 | 14 | c.28+ others(29): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 2/27 | chr15 | TogoVar | |||||||
ATP8B4_chr15_49853238_50124233 | 50114103 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG01515.hp1 HG01516.hp1 HG01517.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0001 | a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0003g0170 others(1): Show |
4 | 33 | 0.1212 | 14 | c.-43 others(31): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 1/27 | chr15 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51608922 | C | CGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(44): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(13): Show | a0001c0001t0001g0037 a0001c0001t0001g0251 a0001c0001t0001g0269 others(44): Show |
47 | 52 | 0.9038 | 14 | c.263 others(31): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 24/27 | chr20 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51638069 | T | TTATATAT others(7): Show |
intron_variant | MODIFIER | NA19056.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0268 | 1 | 135 | 0.0074 | 14 | c.166 others(33): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 15/27 | chr20 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51638071 | T | TTATATAT others(7): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG03139.hp2 others(2): Show |
a0001 | a0001c0002a0001c0003a0001c0004 | a0001c0002t0004a0001c0003t0051a0001c0004t0005 | a0001c0002t0004g0067 a0001c0002t0004g0068 a0001c0003t0051g0113 others(2): Show |
5 | 169 | 0.0296 | 14 | c.166 others(33): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 15/27 | chr20 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51642726 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01884.hp2 HG02683.hp1 others(3): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0012a0001c0004t0005a0001c0004t0009others(2): Show | a0001c0003t0012g0086 a0001c0004t0005g0186 a0001c0004t0005g0187 others(3): Show |
6 | 227 | 0.0264 | 14 | c.150 others(33): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 14/27 | chr20 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51658888 | C | CGGGGGGG others(7): Show |
intron_variant | MODIFIER | HG03041.hp1 HG03688.hp2 NA18983.hp2 |
a0001 | a0001c0004a0001c0005 | a0001c0004t0005a0001c0005t0008 | a0001c0004t0005g0089 a0001c0004t0005g0190 a0001c0005t0008g0011 |
3 | 51 | 0.0588 | 14 | c.129 others(33): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 13/27 | chr20 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51682577 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG00140.hp2 HG02145.hp1 HG02630.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0009a0001c0001t0012a0001c0001t0013others(1): Show | a0001c0001t0009g0004 a0001c0001t0009g0009 a0001c0001t0012g0134 others(5): Show |
8 | 86 | 0.0930 | 14 | c.800 others(31): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 9/27 | chr20 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51718814 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0071 | a0001c0001t0071g0142 | 1 | 81 | 0.0123 | 14 | c.328 others(31): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 3/27 | chr20 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51765642 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00741.hp2 HG01081.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0003a0001c0001t0012a0001c0001t0013others(4): Show | a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0012g0134 others(5): Show |
8 | 202 | 0.0396 | 14 | c.68+ others(29): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 1/27 | chr20 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51766663 | A | AGGGGGGG others(7): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0003 | a0001c0003t0010 | a0001c0003t0010g0306 | 1 | 310 | 0.0032 | 14 | c.68+ others(29): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 1/27 | chr20 | TogoVar | |||||||
ATP9B_chr18_79064394_79383283 | 79071398 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG01168.hp2 HG03041.hp1 NA18946.hp1 others(3): Show |
a0001a0002 | a0001c0003a0001c0004a0001c0013others(1): Show | a0001c0003t0003a0001c0004t0002a0001c0004t0003others(2): Show | a0001c0003t0003g0112 a0001c0004t0002g0109 a0001c0004t0003g0110 others(3): Show |
6 | 256 | 0.0234 | 14 | c.119 others(31): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 1/29 | chr18 | TogoVar | |||||||
ATP9B_chr18_79064394_79383283 | 79071399 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG02109.hp2 HG03130.hp1 HG04204.hp1 |
a0001 | a0001c0001a0001c0038a0001c0039 | a0001c0001t0001a0001c0038t0001a0001c0039t0002 | a0001c0001t0001g0023 a0001c0038t0001g0265 a0001c0039t0002g0266 |
3 | 4 | 0.7500 | 14 | c.119 others(31): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79157396 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG03471.hp1 HG03516.hp1 |
a0006 | a0006c0012 | a0006c0012t0003 | a0006c0012t0003g0198 a0006c0012t0003g0221 |
2 | 107 | 0.0187 | 14 | c.778 others(31): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 7/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79163869 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0161 | 1 | 69 | 0.0145 | 14 | c.778 others(31): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 7/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79238855 | C | CGCAGTGA others(7): Show |
intron_variant | MODIFIER | HG01261.hp2 HG01346.hp1 NA18612.hp2 others(10): Show |
a0001a0002 | a0001c0001a0001c0015a0002c0005 | a0001c0001t0001a0001c0015t0001a0002c0005t0001 | a0001c0001t0001g0004 a0001c0001t0001g0043 a0001c0001t0001g0044 others(10): Show |
13 | 296 | 0.0439 | 14 | c.110 others(35): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 11/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79356822 | T | TCTGTGTG others(7): Show |
intron_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 296 | 0.0034 | 14 | c.290 others(33): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79356834 | A | ACCCTGTG others(7): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(157): Show |
a0001a0002a0005others(4): Show | a0001c0001a0001c0003a0001c0004others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(19): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0007 others(157): Show |
160 | 278 | 0.5755 | 14 | c.290 others(33): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 25/29 | chr18 | TogoVar | |||||||
ATP9B_chr18_79064394_79383283 | 79356900 | T | TCCGTGTG others(7): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(70): Show |
a0001a0002a0007others(3): Show | a0001c0001a0001c0003a0001c0004others(8): Show | a0001c0001t0002a0001c0003t0002a0001c0004t0002others(8): Show | a0001c0001t0002g0079 a0001c0003t0002g0135 a0001c0003t0002g0149 others(70): Show |
73 | 294 | 0.2483 | 14 | c.290 others(33): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar |