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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP7A_chrX_77905693_78055395 | 77907783 | GGAAAGTC | G | upstream_gene_variant | MODIFIER | HG01243.hp1 HG02559.hp2 HG02572.hp1 others(15): Show |
a0001a0010 | a0001c0001a0010c0013 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(6): Show | a0001c0001t0001g0007 a0001c0001t0003g0016 a0001c0001t0003g0017 others(15): Show |
18 | 231 | 0.0779 | -7 | c.-30 others(18): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 2909 | chrX | TogoVar | |||||||
ATP7B_chr13_51927669_52016450 | 51968863 | CTTTTTTT | C | intron_variant | MODIFIER | HG01109.hp1 HG01255.hp2 HG01256.hp1 others(4): Show |
a0003a0005 | a0003c0003a0005c0006 | a0003c0003t0005a0005c0006t0004a0005c0006t0024 | a0003c0003t0005g0157 a0005c0006t0004g0009 a0005c0006t0004g0121 others(3): Show |
7 | 189 | 0.0370 | -7 | c.154 others(24): Show |
ATP7B | ENSG00000123191.17 | transcript | ENST00000242839.10 | protein_coding | 3/20 | chr13 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42435443 | AAAAAAAC | A | intron_variant | MODIFIER | HG00280.hp1 HG00639.hp2 HG00733.hp1 others(120): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0020 a0001c0001t0002g0014 a0001c0001t0002g0015 others(120): Show |
123 | 308 | 0.3994 | -7 | c.312 others(26): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 33/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42448828 | GTTTTTTT | G | intron_variant | MODIFIER | HG01884.hp1 HG02258.hp2 HG02280.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0004a0001c0002t0003a0001c0002t0004others(5): Show | a0001c0001t0004g0073 a0001c0002t0003g0188 a0001c0002t0004g0013 others(11): Show |
14 | 23 | 0.6087 | -7 | c.289 others(26): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 30/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42555127 | ATCTATCT | A | intron_variant | MODIFIER | HG01070.hp2 HG01175.hp1 HG01496.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0017a0001c0003t0003 | a0001c0001t0002g0160 a0001c0001t0017g0080 a0001c0001t0017g0081 others(1): Show |
4 | 306 | 0.0131 | -7 | c.141 others(24): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 16/36 | chr4 | TogoVar | |||||||
ATP8A2_chr13_25366974_26030851 | 25531300 | TATATATG | T | intron_variant | MODIFIER | HG01109.hp2 HG01358.hp1 |
a0001 | a0001c0003a0001c0005 | a0001c0003t0018a0001c0005t0021 | a0001c0003t0018g0057 a0001c0005t0021g0030 |
2 | 120 | 0.0167 | -7 | c.420 others(22): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25534321 | GGTTGGGA | G | intron_variant | MODIFIER | HG03041.hp1 HG03098.hp2 |
a0001 | a0001c0010 | a0001c0010t0012a0001c0010t0056 | a0001c0010t0012g0090 a0001c0010t0056g0002 |
2 | 120 | 0.0167 | -7 | c.507 others(24): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 6/36 | chr13 | TogoVar | |||||||
ATP8A2_chr13_25366974_26030851 | 25761633 | AATATAAT | A | intron_variant | MODIFIER | HG02630.hp2 NA20129.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0016a0001c0002t0001 | a0001c0001t0016g0104 a0001c0002t0001g0060 |
2 | 120 | 0.0167 | -7 | c.238 others(26): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 25/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8B1_chr18_57641426_57808315 | 57717547 | CAAAAAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG01081.hp2 HG01099.hp1 others(16): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(7): Show | a0001c0001t0001g0010 a0001c0001t0001g0125 a0001c0001t0003g0239 others(16): Show |
19 | 25 | 0.7600 | -7 | c.182 others(26): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 2/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57733897 | ACACTTAG | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(305): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0006others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(56): Show | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0010 others(305): Show |
308 | 312 | 0.9872 | -7 | c.-25 others(24): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57761090 | TAAAATAA | T | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(55): Show |
a0001a0003a0006 | a0001c0001a0001c0005a0001c0016others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0035 a0001c0001t0001g0058 a0001c0001t0001g0059 others(55): Show |
58 | 312 | 0.1859 | -7 | c.-25 others(26): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | |||||||
ATP8B4_chr15_49853238_50124233 | 50085973 | TATATCAA | T | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp1 others(61): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0002a0002c0021others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0110 others(61): Show |
64 | 252 | 0.2540 | -7 | c.29- others(24): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 2/27 | chr15 | TogoVar | |||||||
ATP8B4_chr15_49853238_50124233 | 50086275 | TAATATAG | T | intron_variant | MODIFIER | HG02572.hp2 HG02818.hp1 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0236 a0001c0001t0003g0237 a0001c0001t0003g0238 |
3 | 241 | 0.0124 | -7 | c.29- others(24): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 2/27 | chr15 | TogoVar | |||||||
ATP8B4_chr15_49853238_50124233 | 50086415 | TAATATAG | T | intron_variant | MODIFIER | HG02451.hp1 HG02717.hp1 HG03579.hp1 |
a0001a0009 | a0001c0001a0009c0009 | a0001c0001t0002a0009c0009t0001a0009c0009t0024 | a0001c0001t0002g0015 a0009c0009t0001g0185 a0009c0009t0024g0186 |
3 | 244 | 0.0123 | -7 | c.29- others(24): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 2/27 | chr15 | TogoVar | |||||||
ATP8B4_chr15_49853238_50124233 | 50086481 | TAATATAG | T | intron_variant | MODIFIER | HG00280.hp1 HG00558.hp1 HG02004.hp2 others(5): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0003a0002c0002t0001a0002c0002t0006others(4): Show | a0001c0001t0003g0118 a0001c0001t0003g0119 a0002c0002t0001g0229 others(5): Show |
8 | 251 | 0.0319 | -7 | c.29- others(24): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 2/27 | chr15 | TogoVar | |||||||
ATP8B4_chr15_49853238_50124233 | 50086586 | TAATATAG | T | intron_variant | MODIFIER | HG00423.hp1 HG01884.hp2 HG01891.hp2 others(8): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0016others(6): Show | a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0002g0017 others(8): Show |
11 | 252 | 0.0437 | -7 | c.29- others(24): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 2/27 | chr15 | TogoVar | |||||||
ATP8B4_chr15_49853238_50124233 | 50107932 | GCCTGAGA | G | intron_variant | MODIFIER | HG01243.hp1 HG02922.hp2 NA18522.hp2 |
a0001a0011 | a0001c0001a0011c0012 | a0001c0001t0001a0011c0012t0002 | a0001c0001t0001g0087 a0001c0001t0001g0088 a0011c0012t0002g0050 |
3 | 252 | 0.0119 | -7 | c.-42 others(22): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 1/27 | chr15 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51661526 | CTTTTTTT | C | intron_variant | MODIFIER | HG01106.hp1 HG01167.hp1 HG01515.hp2 others(13): Show |
a0001 | a0001c0001a0001c0003a0001c0011 | a0001c0001t0001a0001c0001t0008a0001c0001t0009others(8): Show | a0001c0001t0001g0148 a0001c0001t0008g0083 a0001c0001t0009g0004 others(13): Show |
16 | 68 | 0.2353 | -7 | c.129 others(26): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 13/27 | chr20 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51711852 | ATTTTTTT | A | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00423.hp2 others(38): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0011a0001c0002t0001others(21): Show | a0001c0001t0001g0290 a0001c0001t0011g0140 a0001c0001t0011g0166 others(38): Show |
41 | 185 | 0.2216 | -7 | c.436 others(24): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 4/27 | chr20 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51718814 | CAAAAAAA | C | intron_variant | MODIFIER | HG00639.hp2 HG02145.hp2 HG02723.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003a0001c0014others(2): Show | a0001c0001t0003a0001c0001t0013a0001c0001t0056others(5): Show | a0001c0001t0003g0117 a0001c0001t0013g0060 a0001c0001t0056g0255 others(5): Show |
8 | 88 | 0.0909 | -7 | c.328 others(24): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 3/27 | chr20 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51754095 | CCCTGGAG | C | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00438.hp1 others(69): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0015 a0001c0001t0001g0078 a0001c0001t0001g0197 others(69): Show |
72 | 310 | 0.2323 | -7 | c.68+ others(24): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 1/27 | chr20 | TogoVar | |||||||
ATP9B_chr18_79064394_79383283 | 79118390 | GTTTTTTT | G | intron_variant | MODIFIER | NA18942.hp1 NA18952.hp2 NA18992.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 others(3): Show |
6 | 108 | 0.0556 | -7 | c.558 others(24): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 4/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79147243 | CAGTTACA | C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp1 others(89): Show |
a0002a0006a0008others(4): Show | a0002c0002a0002c0005a0002c0032others(7): Show | a0002c0002t0002a0002c0002t0003a0002c0002t0004others(13): Show | a0002c0002t0002g0176 a0002c0002t0002g0177 a0002c0002t0002g0178 others(89): Show |
92 | 296 | 0.3108 | -7 | c.726 others(24): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 6/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79199762 | GAAAAAAA | G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(102): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0004others(18): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0002others(27): Show | a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0095 others(101): Show |
105 | 203 | 0.5172 | -7 | c.954 others(24): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79348263 | AAAAAAAC | A | intron_variant | MODIFIER | HG01243.hp2 HG01884.hp2 HG01891.hp2 others(3): Show |
a0002a0005 | a0002c0032a0005c0009 | a0002c0032t0005a0005c0009t0005 | a0002c0032t0005g0189 a0005c0009t0005g0165 a0005c0009t0005g0166 others(3): Show |
6 | 296 | 0.0203 | -7 | c.290 others(22): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79354568 | CAAAAAAA | C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00733.hp1 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0160 others(5): Show |
8 | 56 | 0.1429 | -7 | c.290 others(26): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79371370 | TAAAAAAA | T | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(60): Show |
a0001a0002a0006others(3): Show | a0001c0003a0001c0004a0001c0006others(7): Show | a0001c0003t0002a0001c0003t0003a0001c0003t0011others(16): Show | a0001c0003t0002g0149 a0001c0003t0003g0112 a0001c0003t0003g0120 others(60): Show |
63 | 69 | 0.9130 | -7 | c.301 others(26): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 26/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115234592 | CTTTTTTT | C | intron_variant | MODIFIER | HG01891.hp2 HG02145.hp2 HG02280.hp2 others(10): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0002a0001c0001t0008a0001c0001t0010others(9): Show | a0001c0001t0002g0014 a0001c0001t0008g0023 a0001c0001t0008g0030 others(10): Show |
13 | 118 | 0.1102 | -7 | c.153 others(26): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 9/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115545234 | CAAAAAAA | C | intron_variant | MODIFIER | HG01071.hp2 HG01515.hp2 HG02055.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0014 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0074 a0001c0001t0001g0100 a0001c0001t0001g0104 others(8): Show |
11 | 51 | 0.2157 | -7 | c.371 others(26): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 25/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115600929 | CTTTTTTT | C | intron_variant | MODIFIER | HG00639.hp1 HG00735.hp2 HG00738.hp2 others(21): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0002a0001c0001t0008a0001c0001t0011others(17): Show | a0001c0001t0002g0014 a0001c0001t0002g0113 a0001c0001t0002g0115 others(21): Show |
24 | 41 | 0.5854 | -7 | c.379 others(28): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 26/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115774425 | CAAAAAAA | C | intron_variant | MODIFIER | HG00639.hp2 HG00735.hp2 HG00738.hp2 others(12): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0008others(8): Show | a0001c0001t0002g0078 a0001c0001t0002g0115 a0001c0001t0002g0116 others(12): Show |
15 | 20 | 0.7500 | -7 | c.390 others(28): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 27/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115909621 | TAAAAAAA | T | intron_variant | MODIFIER | HG00639.hp1 HG00735.hp1 HG00735.hp2 others(43): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0053 a0001c0001t0001g0063 a0001c0001t0001g0066 others(43): Show |
46 | 58 | 0.7931 | -7 | c.401 others(28): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 28/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRN_chr20_3466018_3656118 | 3630916 | CTTTTTTT | C | intron_variant | MODIFIER | HG01109.hp1 HG01884.hp2 HG01943.hp2 others(13): Show |
a0001a0002a0007others(1): Show | a0001c0001a0001c0002a0001c0007others(4): Show | a0001c0001t0023a0001c0002t0004a0001c0002t0006others(5): Show | a0001c0001t0023g0087 a0001c0002t0004g0029 a0001c0002t0004g0092 others(13): Show |
16 | 21 | 0.7619 | -7 | c.386 others(26): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 25/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77636902 | GAAGAAGA | G | intron_variant | MODIFIER | HG02451.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0004 a0001c0001t0008g0005 |
2 | 216 | 0.0093 | -7 | c.455 others(24): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 15/34 | chrX | TogoVar | |||||||
ATR_chr3_142444235_142583733 | 142496278 | CTATATAT | C | intron_variant | MODIFIER | HG02056.hp1 HG02895.hp2 HG03942.hp2 others(3): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0052 a0001c0001t0001g0131 a0003c0003t0001g0155 others(3): Show |
6 | 27 | 0.2222 | -7 | c.589 others(22): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 34/46 | chr3 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16316865 | CTTTTTTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp2 HG00735.hp2 others(25): Show |
a0001a0003 | a0001c0001a0001c0010a0001c0019others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0029others(10): Show | a0001c0001t0001g0037 a0001c0001t0001g0045 a0001c0001t0001g0083 others(25): Show |
28 | 68 | 0.4118 | -7 | c.191 others(26): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 7/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16402242 | GTTTTTTT | G | intron_variant | MODIFIER | HG01361.hp1 HG02280.hp1 HG02280.hp2 others(4): Show |
a0001a0003 | a0001c0008a0001c0012a0001c0042others(1): Show | a0001c0008t0002a0001c0012t0006a0001c0012t0039others(2): Show | a0001c0008t0002g0013 a0001c0012t0006g0014 a0001c0012t0006g0112 others(4): Show |
7 | 9 | 0.7778 | -7 | c.-16 others(28): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16411125 | CAAAAAAA | C | intron_variant | MODIFIER | HG01361.hp1 HG02055.hp2 HG02280.hp1 others(7): Show |
a0001a0002a0003others(1): Show | a0001c0008a0001c0012a0001c0042others(3): Show | a0001c0008t0002a0001c0012t0006a0001c0012t0039others(4): Show | a0001c0008t0002g0013 a0001c0012t0006g0008 a0001c0012t0006g0014 others(7): Show |
10 | 125 | 0.0800 | -7 | c.-16 others(28): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16569528 | GAAAAAAA | G | intron_variant | MODIFIER | HG01074.hp1 HG01109.hp2 HG02896.hp2 others(2): Show |
a0001a0002a0003 | a0001c0010a0002c0004a0002c0031others(2): Show | a0001c0010t0024a0002c0004t0002a0002c0031t0010others(2): Show | a0001c0010t0024g0048 a0002c0004t0002g0164 a0002c0031t0010g0173 others(2): Show |
5 | 86 | 0.0581 | -7 | c.-36 others(28): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 4/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16579486 | CCCCCCCA | C | intron_variant | MODIFIER | HG01074.hp1 HG01109.hp2 HG01255.hp2 others(27): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0008a0001c0010others(13): Show | a0001c0001t0020a0001c0008t0002a0001c0008t0040others(23): Show | a0001c0001t0020g0002 a0001c0008t0002g0137 a0001c0008t0040g0154 others(27): Show |
30 | 180 | 0.1667 | -7 | c.-36 others(26): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 4/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16714188 | CACACACA | C | intron_variant | MODIFIER | HG00597.hp2 HG00642.hp2 HG01070.hp2 others(25): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0008a0001c0010others(18): Show | a0001c0001t0001a0001c0008t0047a0001c0010t0023others(22): Show | a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0008t0047g0060 others(25): Show |
28 | 92 | 0.3043 | -7 | c.-61 others(28): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | |||||||
ATXN2L_chr16_28817999_28842232 | 28822934 | GGCCCCCC | G | upstream_gene_variant | MODIFIER | HG01071.hp1 HG01257.hp1 HG01258.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0002t0001g0007 others(1): Show |
6 | 297 | 0.0202 | -7 | c.-32 others(16): Show |
ATXN2L | ENSG00000168488.19 | transcript | ENST00000336783.9 | protein_coding | 64 | chr16 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111465767 | CAAAAAAA | C | intron_variant | MODIFIER | HG00544.hp2 HG00597.hp1 HG01071.hp1 others(73): Show |
a0001a0002a0003others(2): Show | a0001c0003a0002c0002a0002c0016others(4): Show | a0001c0003t0001a0002c0002t0001a0002c0002t0003others(5): Show | a0001c0003t0001g0144 a0001c0003t0001g0145 a0001c0003t0001g0146 others(73): Show |
76 | 159 | 0.4780 | -7 | c.284 others(26): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111588991 | CAAAAAAA | C | intron_variant | MODIFIER | HG01884.hp2 HG02145.hp2 HG02559.hp2 others(5): Show |
a0002a0004a0005 | a0002c0002a0004c0008a0005c0021 | a0002c0002t0001a0004c0008t0001a0005c0021t0001 | a0002c0002t0001g0025 a0002c0002t0001g0096 a0002c0002t0001g0099 others(5): Show |
8 | 31 | 0.2581 | -7 | c.251 others(24): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | TogoVar | |||||||
ATXN3_chr14_92053552_92111582 | 92075156 | GTTTTTTT | G | intron_variant | MODIFIER | HG01109.hp1 HG02055.hp1 HG02257.hp2 others(5): Show |
a0003a0016 | a0003c0026a0016c0025 | a0003c0026t0017a0016c0025t0026a0016c0025t0027 | a0003c0026t0017g0020 a0003c0026t0017g0021 a0003c0026t0017g0022 others(5): Show |
8 | 146 | 0.0548 | -7 | c.873 others(24): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 9/10 | chr14 | TogoVar | |||||||
ATXN3_chr14_92053552_92111582 | 92089330 | CTCTTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00423.hp1 others(134): Show |
a0004a0006a0008others(24): Show | a0004c0003a0006c0005a0006c0052others(34): Show | a0004c0003t0001a0004c0003t0002a0004c0003t0020others(52): Show | a0004c0003t0001g0003 a0004c0003t0001g0039 a0004c0003t0001g0047 others(130): Show |
137 | 393 | 0.3486 | -7 | c.388 others(22): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 5/10 | chr14 | TogoVar | |||||||
ATXN3_chr14_92053552_92111582 | 92111050 | CAAAAAAA | C | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00639.hp1 HG01081.hp2 others(38): Show |
a0002a0007a0010others(13): Show | a0002c0002a0007c0010a0007c0017others(16): Show | a0002c0002t0050a0007c0010t0006a0007c0010t0016others(26): Show | a0002c0002t0050g0375 a0007c0010t0006g0374 a0007c0010t0016g0130 others(38): Show |
41 | 281 | 0.1459 | -7 | c.-45 others(18): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 4469 | chr14 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105619530 | ATTTTTTT | A | intron_variant | MODIFIER | HG00738.hp2 HG01074.hp2 HG01934.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(2): Show | a0001c0001t0001g0071 a0001c0001t0005g0038 a0001c0001t0005g0130 others(4): Show |
7 | 154 | 0.0455 | -7 | c.151 others(24): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 9/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105657702 | CAAAAAAA | C | intron_variant | MODIFIER | HG01192.hp1 HG01255.hp1 HG01515.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0050 a0001c0001t0002g0074 a0001c0001t0002g0078 others(9): Show |
12 | 161 | 0.0745 | -7 | c.578 others(24): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 4/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105693577 | ATCCATCT | A | intron_variant | MODIFIER | HG00280.hp1 HG00558.hp1 HG00673.hp1 others(74): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0008a0001c0012others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0011 a0001c0001t0001g0057 a0001c0001t0001g0071 others(74): Show |
77 | 250 | 0.3080 | -7 | c.356 others(26): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar |