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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATRX_chrX_77499880_77791216 | 77790934 | G | GTATATAT others(7): Show |
upstream_gene_variant | MODIFIER | HG01433.hp1 HG03654.hp1 NA19012.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0104a0001c0001t0002g0091a0001c0001t0002g0101others(2): Show | 5 | 218 | 0.0229 | 14 | c.-49 others(25): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 4719 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77790990 | C | CTATAAAT others(7): Show |
upstream_gene_variant | MODIFIER | HG00597.hp2 HG01081.hp1 HG01109.hp1 others(35): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0006others(1): Show | a0001c0001t0001a0001c0001t0003a0002c0002t0001others(6): Show | a0001c0001t0001g0087a0001c0001t0003g0088a0002c0002t0001g0010others(35): Show | 38 | 218 | 0.1743 | 14 | c.-49 others(25): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 4775 | chrX | TogoVar | ||||||
ATR_chr3_142444235_142583733 | 142454437 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0019 | 1 | 322 | 0.0031 | 14 | c.765 others(33): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 45/46 | chr3 | TogoVar | ||||||
ATR_chr3_142444235_142583733 | 142472085 | T | TTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG00738.hp2 HG02055.hp1 NA20300.hp1 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0008t0001 | a0001c0001t0001g0106a0001c0008t0001g0201a0001c0008t0001g0202 | 3 | 322 | 0.0093 | 14 | c.622 others(33): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 36/46 | chr3 | TogoVar | ||||||
ATR_chr3_142444235_142583733 | 142496278 | C | CATTATAT others(7): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0021 | 1 | 322 | 0.0031 | 14 | c.589 others(29): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 34/46 | chr3 | TogoVar | ||||||
ATR_chr3_142444235_142583733 | 142496278 | C | CTATATAT others(7): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0267 | 1 | 322 | 0.0031 | 14 | c.589 others(29): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 34/46 | chr3 | TogoVar | ||||||
ATR_chr3_142444235_142583733 | 142516984 | A | AATATATA others(7): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02109.hp1 HG02647.hp2 others(7): Show |
a0001a0004 | a0001c0004a0001c0008a0004c0009 | a0001c0004t0001a0001c0008t0001a0004c0009t0001 | a0001c0004t0001g0147a0001c0004t0001g0153a0001c0004t0001g0203others(7): Show | 10 | 322 | 0.0311 | 14 | c.438 others(33): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 24/46 | chr3 | TogoVar | ||||||
ATR_chr3_142444235_142583733 | 142528854 | C | CATATATA others(7): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01884.hp1 HG03209.hp2 others(4): Show |
a0001a0003 | a0001c0006a0003c0003 | a0001c0006t0001a0003c0003t0001 | a0001c0006t0001g0007a0001c0006t0001g0014a0003c0003t0001g0164others(4): Show | 7 | 322 | 0.0217 | 14 | c.394 others(33): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 21/46 | chr3 | TogoVar | ||||||
ATR_chr3_142444235_142583733 | 142528879 | A | ATATATAT others(7): Show |
intron_variant | MODIFIER | HG02683.hp2 NA18947.hp1 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0173a0003c0003t0001g0191 | 2 | 322 | 0.0062 | 14 | c.394 others(33): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 21/46 | chr3 | TogoVar | ||||||
ATR_chr3_142444235_142583733 | 142528879 | A | ATATATAT others(7): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0199 | 1 | 322 | 0.0031 | 14 | c.394 others(33): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 21/46 | chr3 | TogoVar | ||||||
ATR_chr3_142444235_142583733 | 142528879 | A | ATATATAT others(7): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0157 | 1 | 322 | 0.0031 | 14 | c.394 others(33): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 21/46 | chr3 | TogoVar | ||||||
ATR_chr3_142444235_142583733 | 142528879 | A | ATATTTTT others(7): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0163 | 1 | 322 | 0.0031 | 14 | c.394 others(33): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 21/46 | chr3 | TogoVar | ||||||
ATR_chr3_142444235_142583733 | 142544452 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01074.hp1 HG01167.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032a0001c0001t0001g0035a0001c0001t0001g0088others(9): Show | 12 | 322 | 0.0373 | 14 | c.335 others(33): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 16/46 | chr3 | TogoVar | ||||||
ATXN10_chr22_45666834_45850307 | 45795424 | T | TATTCTAT others(7): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0193 | 1 | 316 | 0.0032 | 14 | c.117 others(35): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 9/11 | chr22 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16296660 | G | GTTTTTTT others(7): Show |
downstream_gene_variant | MODIFIER | HG04184.hp2 | a0014 | a0014c0017 | a0014c0017t0004 | a0014c0017t0004g0171 | 1 | 182 | 0.0055 | 14 | c.*96 others(25): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2451 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16308322 | T | TCACACAC others(7): Show |
intron_variant | MODIFIER | NA18957.hp1 | a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0072 | 1 | 182 | 0.0055 | 14 | c.191 others(33): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 7/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16316865 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00609.hp1 others(5): Show |
a0005a0008a0013others(2): Show | a0005c0006a0008c0012a0013c0013others(2): Show | a0005c0006t0003a0008c0012t0005a0013c0013t0005others(4): Show | a0005c0006t0003g0006a0005c0006t0003g0070a0008c0012t0005g0091others(5): Show | 8 | 182 | 0.0440 | 14 | c.191 others(33): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 7/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16395270 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG01169.hp2 | a0021 | a0021c0021 | a0021c0021t0014 | a0021c0021t0014g0082 | 1 | 182 | 0.0055 | 14 | c.-16 others(35): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16484991 | G | GTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG01257.hp2 others(5): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0004a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0011a0002c0004t0001others(5): Show | a0001c0001t0001g0105a0001c0001t0011g0131a0002c0004t0001g0073others(5): Show | 8 | 182 | 0.0440 | 14 | c.-16 others(31): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16526064 | T | TATATATA others(7): Show |
intron_variant | MODIFIER | HG01070.hp1 | a0019 | a0019c0026 | a0019c0026t0019 | a0019c0026t0019g0001 | 1 | 182 | 0.0055 | 14 | c.-36 others(33): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 4/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16526064 | T | TATATATA others(7): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01168.hp2 HG01169.hp2 others(6): Show |
a0002a0012a0015others(4): Show | a0002c0002a0002c0004a0012c0011others(5): Show | a0002c0002t0008a0002c0004t0017a0012c0011t0004others(6): Show | a0002c0002t0008g0116a0002c0004t0017g0179a0012c0011t0004g0086others(6): Show | 9 | 182 | 0.0495 | 14 | c.-36 others(33): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 4/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16579480 | G | GCCCCCCC others(7): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0010 | a0010c0010 | a0010c0010t0006 | a0010c0010t0006g0008 | 1 | 182 | 0.0055 | 14 | c.-36 others(33): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 4/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16584223 | C | CATATATA others(7): Show |
intron_variant | MODIFIER | HG00609.hp2 HG01169.hp2 HG01361.hp2 others(18): Show |
a0001a0002a0003others(7): Show | a0001c0001a0002c0002a0002c0004others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(15): Show | a0001c0001t0001g0045a0001c0001t0001g0103a0001c0001t0002g0129others(18): Show | 21 | 182 | 0.1154 | 14 | c.-36 others(33): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 4/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16586043 | G | GCGCACAC others(7): Show |
intron_variant | MODIFIER | HG01258.hp2 | a0003 | a0003c0003 | a0003c0003t0013 | a0003c0003t0013g0027 | 1 | 182 | 0.0055 | 14 | c.-48 others(31): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 3/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16606867 | T | TTGTGTGT others(7): Show |
intron_variant | MODIFIER | NA18972.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0046 | 1 | 182 | 0.0055 | 14 | c.-48 others(35): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 3/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16607088 | A | ATGTTGGT others(7): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(131): Show |
a0001a0002a0003others(28): Show | a0001c0001a0001c0027a0001c0029others(46): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(78): Show | a0001c0001t0001g0037a0001c0001t0001g0043a0001c0001t0001g0045others(131): Show | 134 | 182 | 0.7363 | 14 | c.-48 others(35): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 3/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16613271 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0182 | 1 | 182 | 0.0055 | 14 | c.-48 others(35): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 3/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16682203 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02486.hp2 NA18942.hp2 others(2): Show |
a0004a0005a0006others(2): Show | a0004c0031a0005c0006a0006c0008others(2): Show | a0004c0031t0002a0005c0006t0003a0006c0008t0040others(2): Show | a0004c0031t0002g0101a0005c0006t0003g0070a0006c0008t0040g0154others(2): Show | 5 | 182 | 0.0275 | 14 | c.-61 others(35): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16686503 | C | CACAGTTT others(7): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00423.hp1 others(132): Show |
a0001a0002a0003others(33): Show | a0001c0001a0001c0027a0001c0028others(51): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(89): Show | a0001c0001t0001g0043a0001c0001t0001g0045a0001c0001t0001g0103others(132): Show | 135 | 182 | 0.7418 | 14 | c.-61 others(35): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16687657 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | HG00609.hp2 HG02257.hp1 HG02723.hp1 others(4): Show |
a0001a0002a0005others(2): Show | a0001c0028a0002c0002a0005c0006others(2): Show | a0001c0028t0015a0002c0002t0008a0002c0002t0009others(4): Show | a0001c0028t0015g0125a0002c0002t0008g0063a0002c0002t0009g0094others(4): Show | 7 | 182 | 0.0385 | 14 | c.-61 others(35): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16730483 | G | GTATATAT others(7): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0005 | a0005c0006 | a0005c0006t0003 | a0005c0006t0003g0166 | 1 | 182 | 0.0055 | 14 | c.-61 others(35): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | ||||||
ATXN2_chr12_111447214_111604315 | 111463001 | C | CACACACA others(7): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(3): Show |
a0003a0012 | a0003c0004a0012c0022 | a0003c0004t0003a0012c0022t0003 | a0003c0004t0003g0093a0003c0004t0003g0095a0003c0004t0003g0099others(3): Show | 6 | 298 | 0.0201 | 14 | c.289 others(33): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | TogoVar | ||||||
ATXN2_chr12_111447214_111604315 | 111553604 | A | AAAAAATT others(7): Show |
intron_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0226 | 1 | 298 | 0.0034 | 14 | c.348 others(29): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | TogoVar | ||||||
ATXN2_chr12_111447214_111604315 | 111576132 | T | TAACATAA others(7): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG02055.hp2 others(5): Show |
a0003a0006a0008 | a0003c0004a0003c0006a0006c0010others(1): Show | a0003c0004t0003a0003c0006t0003a0006c0010t0003others(1): Show | a0003c0004t0003g0098a0003c0004t0003g0099a0003c0004t0003g0100others(5): Show | 8 | 298 | 0.0269 | 14 | c.252 others(33): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | TogoVar | ||||||
ATXN2_chr12_111447214_111604315 | 111584377 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0266 | 1 | 298 | 0.0034 | 14 | c.251 others(33): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | TogoVar | ||||||
ATXN2_chr12_111447214_111604315 | 111588991 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG01123.hp1 NA18943.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0053a0002c0002t0001g0062 | 2 | 298 | 0.0067 | 14 | c.251 others(31): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | TogoVar | ||||||
ATXN2_chr12_111447214_111604315 | 111592782 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG02559.hp1 HG03704.hp1 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0002a0003c0004t0003 | a0001c0001t0002g0229a0003c0004t0003g0093 | 2 | 298 | 0.0067 | 14 | c.251 others(31): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | TogoVar | ||||||
ATXN3_chr14_92053552_92111582 | 92086253 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG00408.hp2 HG02738.hp1 NA18955.hp2 others(4): Show |
a0004 | a0004c0004 | a0004c0004t0005a0004c0004t0022 | a0004c0004t0005g0089a0004c0004t0005g0095a0004c0004t0005g0296others(4): Show | 7 | 402 | 0.0174 | 14 | c.475 others(31): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 6/10 | chr14 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105619140 | G | GTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01099.hp1 HG01516.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0001g0044a0001c0001t0001g0078a0001c0001t0001g0080others(10): Show | 13 | 252 | 0.0516 | 14 | c.151 others(33): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 9/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105664575 | G | GTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00642.hp1 HG00738.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0001g0082a0001c0001t0003g0076a0001c0001t0003g0086others(6): Show | 9 | 252 | 0.0357 | 14 | c.578 others(29): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 4/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105671104 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG02165.hp1 HG03831.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0014 | a0001c0001t0002g0016a0001c0001t0014g0038 | 2 | 252 | 0.0079 | 14 | c.356 others(31): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105727746 | G | GTATATAT others(7): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp1 HG02622.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0020a0001c0001t0021others(1): Show | a0001c0001t0006g0116a0001c0001t0020g0169a0001c0001t0021g0227others(1): Show | 4 | 252 | 0.0159 | 14 | c.355 others(33): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105727746 | G | GTGTATAT others(7): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00738.hp1 HG01081.hp1 others(13): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0163a0001c0001t0002g0021a0001c0001t0002g0162others(13): Show | 16 | 252 | 0.0635 | 14 | c.355 others(33): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105727777 | T | TATATATA others(7): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01168.hp1 HG02129.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0119a0001c0001t0002g0002a0001c0001t0006g0024others(1): Show | 4 | 252 | 0.0159 | 14 | c.355 others(33): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105727777 | T | TATATATA others(7): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01192.hp2 HG01256.hp1 others(7): Show |
a0001a0005 | a0001c0001a0001c0012a0005c0011 | a0001c0001t0002a0001c0001t0009a0001c0001t0012others(7): Show | a0001c0001t0002g0016a0001c0001t0009g0097a0001c0001t0012g0052others(7): Show | 10 | 252 | 0.0397 | 14 | c.355 others(33): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105860128 | A | AATATATA others(7): Show |
intron_variant | MODIFIER | NA19087.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0146 | 1 | 252 | 0.0040 | 14 | c.250 others(33): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 2/11 | chr7 | TogoVar | ||||||
ATXN7L3B_chr12_74532835_74550430 | 74536670 | C | CTTTTTTT others(7): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 HG01109.hp1 HG01167.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0056 | a0001c0001t0001g0000a0001c0001t0003g0000a0001c0001t0056g0000 | 21 | 408 | 0.0515 | 14 | c.-14 others(25): Show |
ATXN7L3B | ENSG00000253719.4 | transcript | ENST00000519948.4 | protein_coding | 1164 | chr12 | TogoVar | ||||||
ATXN7_chr3_63858867_64008462 | 63952835 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG03471.hp2 HG03579.hp2 NA18906.hp2 |
a0010 | a0010c0011 | a0010c0011t0014 | a0010c0011t0014g0028a0010c0011t0014g0029a0010c0011t0014g0030 | 3 | 300 | 0.0100 | 14 | c.499 others(29): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATXN7_chr3_63858867_64008462 | 63964073 | A | AACACACA others(7): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0022 | a0022c0032 | a0022c0032t0026 | a0022c0032t0026g0082 | 1 | 300 | 0.0033 | 14 | c.499 others(33): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
AUH_chr9_91208823_91366918 | 91249297 | A | AAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00639.hp1 HG01358.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059a0001c0001t0001g0060a0001c0001t0001g0061others(9): Show | 12 | 358 | 0.0335 | 14 | c.656 others(33): Show |
AUH | ENSG00000148090.12 | transcript | ENST00000375731.9 | protein_coding | 6/9 | chr9 | TogoVar |