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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATXN10_chr22_45666834_45850307 | 45727331 | A | ATATCTAT others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00423.hp1 others(158): Show |
a0001a0003 | a0001c0001a0003c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(158): Show | 161 | 316 | 0.5095 | 8 | c.729 others(25): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
ATXN10_chr22_45666834_45850307 | 45740719 | C | CACATACA others(1): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02055.hp2 HG02965.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0290a0001c0001t0001g0291a0001c0001t0001g0294others(1): Show | 4 | 316 | 0.0127 | 8 | c.117 others(25): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
ATXN10_chr22_45666834_45850307 | 45773445 | A | ATTATTTA others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG03239.hp2 NA18906.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0194a0001c0001t0001g0238a0001c0001t0001g0307others(2): Show | 5 | 316 | 0.0158 | 8 | c.117 others(29): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
ATXN1_chr6_16294112_16766460 | 16308322 | T | TCACACAC others(1): Show |
intron_variant | MODIFIER | HG00438.hp2 HG03834.hp2 NA18747.hp1 others(2): Show |
a0002a0004a0026 | a0002c0004a0004c0015a0004c0041others(1): Show | a0002c0004t0001a0004c0015t0001a0004c0041t0001others(1): Show | a0002c0004t0001g0046a0002c0004t0001g0174a0004c0015t0001g0176others(2): Show | 5 | 182 | 0.0275 | 8 | c.191 others(27): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 7/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16316865 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG02132.hp2 HG02257.hp1 HG02451.hp1 others(9): Show |
a0001a0004a0005others(5): Show | a0001c0029a0004c0005a0004c0023others(7): Show | a0001c0029t0048a0004c0005t0002a0004c0023t0002others(7): Show | a0001c0029t0048g0031a0004c0005t0002g0072a0004c0005t0002g0177others(9): Show | 12 | 182 | 0.0659 | 8 | c.191 others(27): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 7/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16378572 | T | TATTTATT others(1): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02615.hp2 HG02630.hp1 others(2): Show |
a0009a0010a0022others(1): Show | a0009c0042a0010c0010a0022c0019others(1): Show | a0009c0042t0011a0010c0010t0006a0022c0019t0001others(1): Show | a0009c0042t0011g0047a0010c0010t0006g0008a0022c0019t0001g0025others(2): Show | 5 | 182 | 0.0275 | 8 | c.-16 others(29): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16389297 | A | ACTGCACT others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01081.hp1 HG01169.hp2 others(17): Show |
a0001a0002a0003others(11): Show | a0001c0001a0002c0004a0003c0003others(15): Show | a0001c0001t0001a0002c0004t0001a0003c0003t0001others(16): Show | a0001c0001t0001g0159a0002c0004t0001g0073a0003c0003t0001g0039others(17): Show | 20 | 182 | 0.1099 | 8 | c.-16 others(29): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16471688 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00597.hp1 HG00642.hp2 others(21): Show |
a0001a0002a0003others(10): Show | a0001c0001a0002c0002a0002c0004others(11): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0002others(17): Show | a0001c0001t0001g0045a0001c0001t0001g0123a0001c0001t0001g0159others(21): Show | 24 | 182 | 0.1319 | 8 | c.-16 others(29): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16484991 | G | GTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01081.hp2 HG01255.hp1 others(8): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0002a0003c0003others(8): Show | a0001c0001t0029a0002c0002t0003a0003c0003t0001others(8): Show | a0001c0001t0029g0145a0002c0002t0003g0007a0003c0003t0001g0109others(8): Show | 11 | 182 | 0.0604 | 8 | c.-16 others(25): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16504993 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01109.hp2 HG02486.hp1 others(9): Show |
a0001a0005a0006others(4): Show | a0001c0028a0001c0052a0005c0006others(6): Show | a0001c0028t0015a0001c0052t0047a0005c0006t0003others(8): Show | a0001c0028t0015g0017a0001c0052t0047g0060a0005c0006t0003g0057others(9): Show | 12 | 182 | 0.0659 | 8 | c.-29 others(29): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 5/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16584223 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG01081.hp2 HG02886.hp1 HG03927.hp1 others(1): Show |
a0002a0003a0006others(1): Show | a0002c0004a0003c0003a0006c0043others(1): Show | a0002c0004t0001a0003c0003t0001a0006c0043t0010others(1): Show | a0002c0004t0001g0046a0003c0003t0001g0109a0006c0043t0010g0128others(1): Show | 4 | 182 | 0.0220 | 8 | c.-36 others(27): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 4/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16586043 | G | GCGCGCAC others(1): Show |
intron_variant | MODIFIER | HG03453.hp1 NA18522.hp2 |
a0002a0007 | a0002c0002a0007c0009 | a0002c0002t0010a0007c0009t0035 | a0002c0002t0010g0015a0007c0009t0035g0018 | 2 | 182 | 0.0110 | 8 | c.-48 others(25): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 3/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16617766 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01257.hp2 HG01258.hp1 others(21): Show |
a0001a0002a0003others(11): Show | a0001c0028a0001c0052a0002c0002others(14): Show | a0001c0028t0015a0001c0052t0047a0002c0002t0001others(19): Show | a0001c0028t0015g0125a0001c0052t0047g0060a0002c0002t0001g0071others(21): Show | 24 | 182 | 0.1319 | 8 | c.-48 others(29): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 3/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16617773 | A | AAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00642.hp1 HG00735.hp1 others(37): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0027a0001c0028others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0044others(31): Show | a0001c0001t0001g0083a0001c0001t0001g0108a0001c0001t0001g0123others(37): Show | 40 | 182 | 0.2198 | 8 | c.-48 others(29): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 3/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16658453 | C | CTTGATAA others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(141): Show |
a0001a0002a0003others(35): Show | a0001c0001a0001c0027a0001c0028others(55): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(92): Show | a0001c0001t0001g0037a0001c0001t0001g0045a0001c0001t0001g0083others(141): Show | 144 | 182 | 0.7912 | 8 | c.-61 others(25): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16679276 | G | GTGGATGG others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(39): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0027a0001c0028others(19): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0029others(28): Show | a0001c0001t0001g0105a0001c0001t0001g0123a0001c0001t0001g0178others(39): Show | 42 | 182 | 0.2308 | 8 | c.-61 others(29): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16687657 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01109.hp2 HG01168.hp2 others(7): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0029a0002c0002others(6): Show | a0001c0001t0001a0001c0029t0048a0002c0002t0003others(7): Show | a0001c0001t0001g0045a0001c0029t0048g0031a0002c0002t0003g0061others(7): Show | 10 | 182 | 0.0550 | 8 | c.-61 others(29): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16730483 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG01168.hp1 HG02132.hp2 HG02135.hp1 others(7): Show |
a0001a0002a0004others(6): Show | a0001c0001a0002c0002a0004c0015others(6): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0016others(7): Show | a0001c0001t0001g0083a0001c0001t0002g0076a0002c0002t0016g0111others(7): Show | 10 | 182 | 0.0550 | 8 | c.-61 others(29): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16730487 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG02055.hp2 HG03209.hp2 |
a0034a0038 | a0034c0047a0038c0033 | a0034c0047t0002a0038c0033t0002 | a0034c0047t0002g0029a0038c0033t0002g0004 | 2 | 182 | 0.0110 | 8 | c.-61 others(29): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16730487 | G | GTATGTAT others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00609.hp2 others(29): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0028a0002c0002others(20): Show | a0001c0001t0001a0001c0001t0029a0001c0001t0044others(22): Show | a0001c0001t0001g0037a0001c0001t0001g0158a0001c0001t0001g0159others(29): Show | 32 | 182 | 0.1758 | 8 | c.-61 others(29): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16730487 | G | GTGTATAT others(1): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02280.hp2 HG02965.hp1 others(3): Show |
a0001a0003a0007others(3): Show | a0001c0028a0003c0003a0007c0009others(3): Show | a0001c0028t0015a0003c0003t0009a0007c0009t0002others(3): Show | a0001c0028t0015g0017a0003c0003t0009g0055a0007c0009t0002g0056others(3): Show | 6 | 182 | 0.0330 | 8 | c.-61 others(29): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16745933 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01169.hp1 HG02257.hp1 others(1): Show |
a0001a0005a0019others(1): Show | a0001c0001a0005c0006a0019c0026others(1): Show | a0001c0001t0001a0005c0006t0009a0019c0026t0001others(1): Show | a0001c0001t0001g0108a0005c0006t0009g0163a0019c0026t0001g0098others(1): Show | 4 | 182 | 0.0220 | 8 | c.-61 others(27): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | ||||||
ATXN2_chr12_111447214_111604315 | 111462977 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02622.hp1 NA18989.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0003 | a0002c0002t0001g0005a0002c0002t0001g0042a0002c0002t0001g0076others(1): Show | 4 | 298 | 0.0134 | 8 | c.289 others(27): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | TogoVar | ||||||
ATXN2_chr12_111447214_111604315 | 111463001 | C | CACACATA others(1): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02486.hp2 HG02965.hp2 others(1): Show |
a0003a0018 | a0003c0004a0018c0028 | a0003c0004t0003a0003c0004t0005a0003c0004t0008others(1): Show | a0003c0004t0003g0110a0003c0004t0005g0086a0003c0004t0008g0215others(1): Show | 4 | 298 | 0.0134 | 8 | c.289 others(27): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | TogoVar | ||||||
ATXN2_chr12_111447214_111604315 | 111464247 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG02145.hp1 HG02486.hp1 others(12): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0026others(4): Show | a0001c0001t0006a0001c0003t0001a0001c0026t0001others(6): Show | a0001c0001t0006g0267a0001c0003t0001g0151a0001c0003t0001g0183others(12): Show | 15 | 298 | 0.0503 | 8 | c.289 others(25): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | TogoVar | ||||||
ATXN2_chr12_111447214_111604315 | 111493418 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02109.hp2 HG02280.hp1 others(6): Show |
a0003 | a0003c0004a0003c0007 | a0003c0004t0003a0003c0007t0003 | a0003c0004t0003g0095a0003c0004t0003g0096a0003c0004t0003g0097others(6): Show | 9 | 298 | 0.0302 | 8 | c.193 others(27): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | TogoVar | ||||||
ATXN2_chr12_111447214_111604315 | 111553599 | A | ATTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01168.hp2 HG02280.hp2 HG02976.hp2 others(7): Show |
a0003a0014 | a0003c0004a0014c0020 | a0003c0004t0003a0003c0004t0005a0003c0004t0008others(1): Show | a0003c0004t0003g0094a0003c0004t0003g0098a0003c0004t0003g0100others(7): Show | 10 | 298 | 0.0336 | 8 | c.348 others(23): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | TogoVar | ||||||
ATXN2_chr12_111447214_111604315 | 111588188 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG01433.hp1 HG01884.hp1 HG01943.hp2 others(12): Show |
a0002a0003a0008others(1): Show | a0002c0002a0003c0004a0003c0007others(3): Show | a0002c0002t0001a0003c0004t0003a0003c0004t0005others(4): Show | a0002c0002t0001g0013a0002c0002t0001g0037a0002c0002t0001g0074others(12): Show | 15 | 298 | 0.0503 | 8 | c.251 others(27): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | TogoVar | ||||||
ATXN2_chr12_111447214_111604315 | 111592782 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00544.hp2 HG01071.hp1 HG01123.hp1 others(40): Show |
a0001a0002a0009 | a0001c0003a0002c0002a0002c0016others(1): Show | a0001c0003t0001a0002c0002t0001a0002c0002t0003others(2): Show | a0001c0003t0001g0171a0002c0002t0001g0011a0002c0002t0001g0012others(40): Show | 43 | 298 | 0.1443 | 8 | c.251 others(25): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | TogoVar | ||||||
ATXN2_chr12_111447214_111604315 | 111596205 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01975.hp1 HG02132.hp1 others(6): Show |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0001a0002c0002t0001a0002c0002t0003 | a0001c0003t0001g0125a0001c0003t0001g0126a0001c0003t0001g0127others(6): Show | 9 | 298 | 0.0302 | 8 | c.251 others(25): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | TogoVar | ||||||
ATXN2_chr12_111447214_111604315 | 111600935 | A | AAAATAAA others(1): Show |
upstream_gene_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG02055.hp2 others(5): Show |
a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0094a0003c0004t0003g0095a0003c0004t0003g0098others(5): Show | 8 | 298 | 0.0269 | 8 | c.-19 others(19): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1621 | chr12 | TogoVar | ||||||
ATXN3_chr14_92053552_92111582 | 92076939 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00423.hp1 others(92): Show |
a0003a0006a0008others(25): Show | a0003c0003a0006c0005a0008c0008others(26): Show | a0003c0003t0001a0003c0003t0002a0003c0003t0004others(53): Show | a0003c0003t0001g0064a0003c0003t0001g0076a0003c0003t0001g0080others(89): Show | 95 | 402 | 0.2363 | 8 | c.872 others(25): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 9/10 | chr14 | TogoVar | ||||||
ATXN3_chr14_92053552_92111582 | 92078357 | A | ATTATTTA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00423.hp1 others(146): Show |
a0003a0004a0006others(34): Show | a0003c0003a0004c0026a0006c0005others(36): Show | a0003c0003t0001a0003c0003t0002a0003c0003t0004others(84): Show | a0003c0003t0001g0064a0003c0003t0001g0076a0003c0003t0001g0077others(142): Show | 149 | 402 | 0.3707 | 8 | c.872 others(25): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 9/10 | chr14 | TogoVar | ||||||
ATXN3_chr14_92053552_92111582 | 92078359 | T | TATTTATT others(1): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02055.hp1 HG02723.hp2 others(1): Show |
a0016 | a0016c0025 | a0016c0025t0080a0016c0025t0081a0016c0025t0082others(1): Show | a0016c0025t0080g0107a0016c0025t0081g0110a0016c0025t0082g0108others(1): Show | 4 | 402 | 0.0100 | 8 | c.872 others(25): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 9/10 | chr14 | TogoVar | ||||||
ATXN3_chr14_92053552_92111582 | 92086253 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00558.hp1 HG00609.hp1 others(83): Show |
a0003a0006a0008others(23): Show | a0003c0003a0006c0005a0006c0051others(25): Show | a0003c0003t0001a0003c0003t0002a0003c0003t0004others(50): Show | a0003c0003t0001g0064a0003c0003t0001g0076a0003c0003t0001g0080others(79): Show | 86 | 402 | 0.2139 | 8 | c.475 others(25): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 6/10 | chr14 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105619140 | G | GTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01167.hp1 HG01167.hp2 others(14): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(11): Show | a0001c0001t0002g0010a0001c0001t0003g0090a0001c0001t0003g0147others(14): Show | 17 | 252 | 0.0675 | 8 | c.151 others(27): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 9/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105641212 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01257.hp2 HG02165.hp1 HG02523.hp2 others(6): Show |
a0001a0006 | a0001c0001a0001c0006a0006c0010 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0002g0016a0001c0001t0003g0070a0001c0001t0004g0124others(6): Show | 9 | 252 | 0.0357 | 8 | c.862 others(25): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 5/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105692370 | T | TTTCCTTC others(1): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01081.hp2 HG01952.hp2 others(5): Show |
a0001a0006 | a0001c0001a0006c0010 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0002g0162a0001c0001t0003g0171a0001c0001t0004g0084others(5): Show | 8 | 252 | 0.0318 | 8 | c.356 others(27): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105692403 | T | TTCCCTCC others(1): Show |
intron_variant | MODIFIER | HG00673.hp2 HG02083.hp1 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0010 | a0001c0001t0001g0174a0001c0001t0006g0116a0001c0001t0010g0091 | 3 | 252 | 0.0119 | 8 | c.356 others(27): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105727746 | G | GTGTATAT others(1): Show |
intron_variant | MODIFIER | HG02818.hp2 NA18948.hp1 NA19088.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0021a0002c0002t0032 | a0001c0001t0002g0142a0001c0001t0002g0177a0001c0001t0021g0184others(1): Show | 4 | 252 | 0.0159 | 8 | c.355 others(27): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105729301 | G | GAATAAAT others(1): Show |
intron_variant | MODIFIER | HG01256.hp1 HG02135.hp2 HG02165.hp1 others(9): Show |
a0001 | a0001c0001a0001c0004a0001c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0088a0001c0001t0002g0016a0001c0001t0002g0186others(9): Show | 12 | 252 | 0.0476 | 8 | c.355 others(27): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105729301 | G | GAATGAAT others(1): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01943.hp1 NA18971.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0033a0001c0001t0002g0053a0001c0001t0004g0039others(3): Show | 6 | 252 | 0.0238 | 8 | c.355 others(27): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105733546 | C | CCATCCAT others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00741.hp2 HG01069.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0019others(5): Show | a0001c0001t0003g0150a0001c0001t0005g0182a0001c0001t0019g0062others(5): Show | 8 | 252 | 0.0318 | 8 | c.355 others(27): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105737528 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00673.hp2 HG01346.hp1 HG02055.hp2 others(15): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0011others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(11): Show | a0001c0001t0001g0033a0001c0001t0001g0085a0001c0001t0001g0088others(15): Show | 18 | 252 | 0.0714 | 8 | c.355 others(27): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105759484 | G | GTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01515.hp1 HG02015.hp2 others(11): Show |
a0001a0006 | a0001c0001a0001c0004a0006c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0082a0001c0001t0002g0167a0001c0001t0003g0029others(11): Show | 14 | 252 | 0.0556 | 8 | c.355 others(27): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105790606 | T | TTATCTAT others(1): Show |
intron_variant | MODIFIER | HG02280.hp1 HG03579.hp1 HG04199.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(2): Show | a0001c0001t0002g0142a0001c0001t0004g0137a0001c0001t0006g0024others(2): Show | 5 | 252 | 0.0198 | 8 | c.251 others(25): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 2/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105790674 | A | ACTATCTA others(1): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00735.hp2 HG01069.hp2 others(61): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0026a0001c0001t0001g0033a0001c0001t0001g0059others(61): Show | 64 | 252 | 0.2540 | 8 | c.251 others(25): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 2/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105860128 | A | AATATATA others(1): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01074.hp2 HG01978.hp2 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(8): Show | a0001c0001t0003g0006a0001c0001t0004g0135a0001c0001t0006g0001others(9): Show | 12 | 252 | 0.0476 | 8 | c.250 others(27): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 2/11 | chr7 | TogoVar | ||||||
ATXN7L2_chr1_109478905_109497734 | 109482862 | G | GGGGGGGG others(1): Show |
upstream_gene_variant | MODIFIER | HG00323.hp2 HG00544.hp1 HG00609.hp2 others(51): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0008others(11): Show | 54 | 332 | 0.1627 | 8 | c.-10 others(19): Show |
ATXN7L2 | ENSG00000162650.17 | transcript | ENST00000683729.1 | protein_coding | 1042 | chr1 | TogoVar | ||||||
ATXN7_chr3_63858867_64008462 | 63952835 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00544.hp2 HG02572.hp2 HG02647.hp2 others(13): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0003others(3): Show | a0001c0001t0005a0002c0002t0002a0002c0002t0008others(6): Show | a0001c0001t0005g0252a0001c0001t0005g0267a0002c0002t0002g0266others(13): Show | 16 | 300 | 0.0533 | 8 | c.499 others(23): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |