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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATRX_chrX_77499880_77791216 | 77716323 | AATATATA others(3): Show |
A | intron_variant | MODIFIER | HG00597.hp1 NA18952.hp1 NA19066.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0092 a0001c0001t0002g0094 a0001c0001t0002g0215 others(1): Show |
4 | 89 | 0.0449 | -10 | c.133 others(25): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 2/34 | chrX | TogoVar | |||||||
ATRX_chrX_77499880_77791216 | 77777380 | CAACAAAA others(3): Show |
C | intron_variant | MODIFIER | HG01069.hp1 HG01255.hp1 |
a0001 | a0001c0001a0001c0011 | a0001c0001t0003a0001c0011t0001 | a0001c0001t0003g0109 a0001c0011t0001g0108 |
2 | 215 | 0.0093 | -10 | c.20+ others(25): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 1/34 | chrX | TogoVar | |||||||
ATRX_chrX_77499880_77791216 | 77786905 | TACACACA others(3): Show |
T | upstream_gene_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0162 | 1 | 41 | 0.0244 | -10 | c.-91 others(19): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 690 | chrX | TogoVar | |||||||
ATRX_chrX_77499880_77791216 | 77790932 | GTGTATAT others(3): Show |
G | upstream_gene_variant | MODIFIER | HG01109.hp1 HG01167.hp1 HG02257.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0010 | a0001c0001t0001g0084 a0001c0001t0003g0083 a0001c0001t0003g0085 others(8): Show |
11 | 106 | 0.1038 | -10 | c.-49 others(21): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 4717 | chrX | TogoVar | |||||||
ATR_chr3_142444235_142583733 | 142472085 | TTGTGTGT others(3): Show |
T | intron_variant | MODIFIER | HG00597.hp2 HG02135.hp2 HG02523.hp1 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0164 a0003c0003t0001g0175 a0003c0003t0001g0183 |
3 | 94 | 0.0319 | -10 | c.622 others(29): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 36/46 | chr3 | TogoVar | |||||||
ATR_chr3_142444235_142583733 | 142496278 | CTATATAT others(3): Show |
C | intron_variant | MODIFIER | NA19055.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0239 | 1 | 22 | 0.0455 | -10 | c.589 others(25): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 34/46 | chr3 | TogoVar | |||||||
ATR_chr3_142444235_142583733 | 142544452 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG04184.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0294 | 1 | 112 | 0.0089 | -10 | c.335 others(29): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 16/46 | chr3 | TogoVar | |||||||
ATR_chr3_142444235_142583733 | 142565733 | TAAAAAAA others(3): Show |
T | intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0154 | 1 | 152 | 0.0066 | -10 | c.292 others(25): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 3/46 | chr3 | TogoVar | |||||||
ATXN10_chr22_45666834_45850307 | 45721919 | AAAAACAA others(3): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG02258.hp2 others(11): Show |
a0001a0003 | a0001c0001a0003c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0014others(2): Show | a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 others(11): Show |
14 | 310 | 0.0452 | -10 | c.728 others(27): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
ATXN10_chr22_45666834_45850307 | 45740679 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG02622.hp1 HG03195.hp2 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 a0001c0001t0001g0210 a0001c0001t0001g0273 |
3 | 49 | 0.0612 | -10 | c.117 others(27): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
ATXN10_chr22_45666834_45850307 | 45751739 | GGAAAAAA others(3): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00735.hp2 HG01168.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0270 a0001c0001t0001g0296 a0001c0001t0003g0126 others(4): Show |
7 | 209 | 0.0335 | -10 | c.117 others(31): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 9/11 | chr22 | TogoVar | |||||||
ATXN10_chr22_45666834_45850307 | 45751745 | AAAAAAAA others(3): Show |
A | intron_variant | MODIFIER | NA18956.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 314 | 0.0032 | -10 | c.117 others(31): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
ATXN10_chr22_45666834_45850307 | 45751759 | AAAAAAAT others(3): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG02630.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 a0001c0001t0001g0294 |
2 | 314 | 0.0064 | -10 | c.117 others(31): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
ATXN10_chr22_45666834_45850307 | 45753377 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0283 | 1 | 5 | 0.2000 | -10 | c.117 others(31): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
ATXN10_chr22_45666834_45850307 | 45795354 | GATTCTAT others(3): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00544.hp2 HG00558.hp2 others(43): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0008 others(42): Show |
46 | 166 | 0.2771 | -10 | c.117 others(31): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
ATXN10_chr22_45666834_45850307 | 45819192 | AAATAGAA others(3): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00673.hp1 HG01981.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0007 a0001c0001t0001g0052 a0001c0001t0001g0148 others(17): Show |
20 | 63 | 0.3175 | -10 | c.123 others(31): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
ATXN10_chr22_45666834_45850307 | 45827129 | CCACACAC others(3): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(159): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0069 a0001c0001t0001g0072 others(158): Show |
162 | 205 | 0.7902 | -10 | c.123 others(31): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16296660 | GTTTTTTT others(3): Show |
G | downstream_gene_variant | MODIFIER | HG00642.hp1 HG02257.hp1 HG02723.hp1 others(2): Show |
a0001a0002 | a0001c0008a0002c0003a0002c0004 | a0001c0008t0046a0001c0008t0047a0002c0003t0009others(2): Show | a0001c0008t0046g0062 a0001c0008t0047g0060 a0002c0003t0009g0055 others(2): Show |
5 | 72 | 0.0694 | -10 | c.*96 others(21): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2451 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16308322 | TCACACAC others(3): Show |
T | intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0021 | 1 | 26 | 0.0385 | -10 | c.191 others(29): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 7/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16402242 | GTTTTTTT others(3): Show |
G | intron_variant | MODIFIER | HG00438.hp2 HG00597.hp1 HG00597.hp2 others(36): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0019a0001c0041others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(26): Show | a0001c0001t0001g0103 a0001c0001t0001g0123 a0001c0001t0002g0020 others(36): Show |
39 | 41 | 0.9512 | -10 | c.-16 others(31): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16443208 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG03492.hp1 | a0004 | a0004c0006 | a0004c0006t0002 | a0004c0006t0002g0124 | 1 | 63 | 0.0159 | -10 | c.-16 others(31): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16480154 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG02056.hp1 NA18944.hp1 NA18957.hp2 others(2): Show |
a0003a0004a0005 | a0003c0002a0004c0005a0004c0006others(1): Show | a0003c0002t0041a0004c0005t0002a0004c0006t0002others(1): Show | a0003c0002t0041g0079 a0004c0005t0002g0177 a0004c0006t0002g0172 others(2): Show |
5 | 18 | 0.2778 | -10 | c.-16 others(29): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16581195 | CTGTGTGT others(3): Show |
C | intron_variant | MODIFIER | HG01255.hp2 HG02257.hp1 HG02451.hp1 others(16): Show |
a0001a0002a0003others(2): Show | a0001c0008a0001c0012a0001c0020others(9): Show | a0001c0008t0002a0001c0012t0006a0001c0012t0048others(14): Show | a0001c0008t0002g0137 a0001c0012t0006g0112 a0001c0012t0048g0031 others(16): Show |
19 | 128 | 0.1484 | -10 | c.-36 others(29): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 4/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16584237 | TATATATA others(3): Show |
T | intron_variant | MODIFIER | HG01346.hp2 NA20300.hp1 |
a0003 | a0003c0002a0003c0022 | a0003c0002t0008a0003c0022t0001 | a0003c0002t0008g0116 a0003c0022t0001g0146 |
2 | 180 | 0.0111 | -10 | c.-36 others(29): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 4/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16654557 | AAAAAAAA others(3): Show |
A | intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0012 | a0001c0012t0039 | a0001c0012t0039g0041 | 1 | 179 | 0.0056 | -10 | c.-48 others(29): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 3/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16654559 | AAAAAAAA others(3): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00597.hp1 others(68): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0008a0001c0010others(24): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0020others(47): Show | a0001c0001t0001g0037 a0001c0001t0002g0020 a0001c0001t0002g0129 others(68): Show |
71 | 180 | 0.3944 | -10 | c.-48 others(29): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 3/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16684672 | TTTGCATT others(3): Show |
T | intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0010 | a0001c0010t0024 | a0001c0010t0024g0048 | 1 | 180 | 0.0056 | -10 | c.-61 others(31): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16745933 | CGTGTGTG others(3): Show |
C | intron_variant | MODIFIER | HG00438.hp1 NA18522.hp1 |
a0003a0004 | a0003c0013a0004c0014 | a0003c0013t0007a0004c0014t0001 | a0003c0013t0007g0011 a0004c0014t0001g0157 |
2 | 19 | 0.1053 | -10 | c.-61 others(29): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | |||||||
ATXN2L_chr16_28817999_28842232 | 28822934 | GGCCCCCC others(3): Show |
G | upstream_gene_variant | MODIFIER | HG01358.hp1 HG01891.hp2 HG02622.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0003 a0001c0002t0001g0007 a0001c0002t0001g0019 |
6 | 297 | 0.0202 | -10 | c.-32 others(19): Show |
ATXN2L | ENSG00000168488.19 | transcript | ENST00000336783.9 | protein_coding | 64 | chr16 | TogoVar | |||||||
ATXN2L_chr16_28817999_28842232 | 28822935 | GCCCCCCC others(3): Show |
G | upstream_gene_variant | MODIFIER | HG02280.hp2 HG02895.hp2 HG03225.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003a0001c0006 | a0001c0001t0001a0001c0003t0001a0001c0006t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0015 others(3): Show |
8 | 118 | 0.0678 | -10 | c.-32 others(19): Show |
ATXN2L | ENSG00000168488.19 | transcript | ENST00000336783.9 | protein_coding | 63 | chr16 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111483188 | AACACATA others(3): Show |
A | intron_variant | MODIFIER | HG01943.hp2 NA18986.hp1 |
a0002a0009 | a0002c0002a0009c0022 | a0002c0002t0001a0009c0022t0003 | a0002c0002t0001g0047 a0009c0022t0003g0121 |
2 | 193 | 0.0104 | -10 | c.252 others(29): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111483452 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp1 HG02486.hp1 others(11): Show |
a0003a0005a0011 | a0003c0004a0005c0023a0011c0013 | a0003c0004t0003a0003c0004t0005a0003c0004t0008others(2): Show | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(11): Show |
14 | 178 | 0.0787 | -10 | c.252 others(29): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111568991 | TTTTTGTT others(3): Show |
T | intron_variant | MODIFIER | NA18979.hp2 NA19058.hp1 |
a0001a0003 | a0001c0003a0003c0005 | a0001c0003t0001a0003c0005t0001 | a0001c0003t0001g0212 a0003c0005t0001g0132 |
2 | 57 | 0.0351 | -10 | c.252 others(29): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111584377 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG02145.hp1 HG02683.hp1 others(2): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0005 | a0001c0001t0002a0001c0003t0001a0003c0005t0001 | a0001c0001t0002g0254 a0001c0003t0001g0173 a0003c0005t0001g0129 others(2): Show |
5 | 24 | 0.2083 | -10 | c.251 others(29): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111585801 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG01943.hp2 HG02055.hp1 others(27): Show |
a0001a0003a0004others(6): Show | a0001c0010a0003c0004a0003c0005others(9): Show | a0001c0010t0001a0003c0004t0003a0003c0004t0005others(11): Show | a0001c0010t0001g0203 a0003c0004t0003g0008 a0003c0004t0003g0009 others(27): Show |
30 | 137 | 0.2190 | -10 | c.251 others(29): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111596205 | AACACACA others(3): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp1 HG02486.hp1 others(9): Show |
a0003a0011a0012 | a0003c0004a0011c0013a0012c0014 | a0003c0004t0003a0003c0004t0005a0011c0013t0005others(1): Show | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(9): Show |
12 | 49 | 0.2449 | -10 | c.251 others(27): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | TogoVar | |||||||
ATXN3_chr14_92053552_92111582 | 92075156 | GTTTTTTT others(3): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00423.hp1 others(134): Show |
a0004a0006a0008others(23): Show | a0004c0003a0006c0005a0006c0051others(32): Show | a0004c0003t0001a0004c0003t0002a0004c0003t0020others(49): Show | a0004c0003t0001g0003 a0004c0003t0001g0039 a0004c0003t0001g0044 others(130): Show |
137 | 275 | 0.4982 | -10 | c.873 others(27): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 9/10 | chr14 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105604255 | CAAAAAAA others(3): Show |
C | downstream_gene_variant | MODIFIER | HG01891.hp2 NA19009.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0036 | a0001c0001t0002g0185 a0001c0001t0036g0190 |
2 | 78 | 0.0256 | -10 | c.*35 others(21): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 516 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105619140 | GTTTTTTT others(3): Show |
G | intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0045 | a0001c0001t0045g0154 | 1 | 11 | 0.0909 | -10 | c.151 others(29): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 9/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105619530 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG01081.hp2 HG02896.hp1 HG02896.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0015others(4): Show | a0001c0001t0001g0057 a0001c0001t0001g0147 a0001c0001t0001g0249 others(6): Show |
9 | 156 | 0.0577 | -10 | c.151 others(27): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 9/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105662053 | TCCTTCCT others(3): Show |
T | intron_variant | MODIFIER | HG02300.hp2 NA18970.hp1 NA19003.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011 | a0001c0001t0002g0082 a0001c0001t0011g0012 a0001c0001t0011g0156 others(1): Show |
4 | 245 | 0.0163 | -10 | c.578 others(27): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 4/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105671104 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG01099.hp2 HG01167.hp1 HG01516.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0012others(1): Show | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0004g0039 others(2): Show |
5 | 58 | 0.0862 | -10 | c.356 others(27): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105704584 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02145.hp1 HG02622.hp2 others(3): Show |
a0001a0007 | a0001c0001a0007c0010 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(3): Show | a0001c0001t0001g0155 a0001c0001t0005g0227 a0001c0001t0007g0116 others(3): Show |
6 | 138 | 0.0435 | -10 | c.356 others(29): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105716665 | GCACACAC others(3): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG00741.hp2 HG01069.hp1 others(16): Show |
a0001a0005a0006 | a0001c0001a0005c0011a0006c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(10): Show | a0001c0001t0001g0075 a0001c0001t0001g0150 a0001c0001t0001g0202 others(16): Show |
19 | 34 | 0.5588 | -10 | c.356 others(29): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105722888 | GAAATAAA others(3): Show |
G | intron_variant | MODIFIER | HG01257.hp2 HG01258.hp1 HG02280.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(4): Show | a0001c0001t0001g0075 a0001c0001t0001g0218 a0001c0001t0002g0205 others(6): Show |
9 | 247 | 0.0364 | -10 | c.356 others(29): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105724573 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 | 1 | 49 | 0.0204 | -10 | c.356 others(29): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105727746 | GTATATAT others(3): Show |
G | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0051 | a0001c0001t0051g0210 | 1 | 68 | 0.0147 | -10 | c.355 others(29): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105737528 | CGTGTGTG others(3): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG02818.hp1 HG03579.hp2 others(1): Show |
a0001a0007 | a0001c0001a0007c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0029 a0001c0001t0002g0181 a0001c0001t0006g0182 others(1): Show |
4 | 27 | 0.1481 | -10 | c.355 others(29): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105745983 | CCCCTGCT others(3): Show |
C | intron_variant | MODIFIER | HG01257.hp2 HG01258.hp1 |
a0001 | a0001c0001 | a0001c0001t0018a0001c0001t0027 | a0001c0001t0018g0168 a0001c0001t0027g0171 |
2 | 250 | 0.0080 | -10 | c.355 others(29): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105806919 | AAGGGTGA others(3): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00558.hp2 HG00642.hp2 others(84): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0006a0001c0008others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0011 a0001c0001t0001g0043 a0001c0001t0001g0057 others(84): Show |
87 | 250 | 0.3480 | -10 | c.251 others(29): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 2/11 | chr7 | TogoVar |