| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ATXN1_chr6_16294112_16766460 | 16308322 | TCACACAC others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00609.hp1 HG01255.hp2 others(18): Show |
a0001a0003a0006others(9): Show | a0001c0001a0003c0003a0003c0050others(10): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0029others(14): Show | a0001c0001t0002g0077a0001c0001t0005g0085a0001c0001t0029g0145others(18): Show | 21 | 182 | 0.1154 | -8 | c.191 others(27): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 7/7 | chr6 | TogoVar | ||||||
| ATXN1_chr6_16294112_16766460 | 16372934 | TAAACAAA others(1): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00597.hp2 others(24): Show |
a0001a0002a0004others(7): Show | a0001c0001a0002c0002a0004c0005others(9): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0003others(12): Show | a0001c0001t0001g0037a0001c0001t0001g0178a0001c0001t0002g0129others(24): Show | 27 | 182 | 0.1484 | -8 | c.-16 others(29): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | ||||||
| ATXN1_chr6_16294112_16766460 | 16378537 | CTTTATTT others(1): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00438.hp2 others(40): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0052a0002c0002others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(23): Show | a0001c0001t0001g0103a0001c0001t0001g0105a0001c0001t0001g0178others(40): Show | 43 | 182 | 0.2363 | -8 | c.-16 others(29): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | ||||||
| ATXN1_chr6_16294112_16766460 | 16581218 | TGTGTGTG others(1): Show |
T | intron_variant | MODIFIER | HG01258.hp2 HG03130.hp2 |
a0003a0007 | a0003c0003a0007c0059 | a0003c0003t0013a0007c0059t0012 | a0003c0003t0013g0027a0007c0059t0012g0030 | 2 | 182 | 0.0110 | -8 | c.-36 others(27): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 4/7 | chr6 | TogoVar | ||||||
| ATXN1_chr6_16294112_16766460 | 16620262 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG02451.hp2 NA19030.hp2 |
a0001a0031 | a0001c0001a0031c0048 | a0001c0001t0011a0031c0048t0042 | a0001c0001t0011g0131a0031c0048t0042g0026 | 2 | 182 | 0.0110 | -8 | c.-48 others(29): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 3/7 | chr6 | TogoVar | ||||||
| ATXN1_chr6_16294112_16766460 | 16679135 | GATGGATG others(1): Show |
G | intron_variant | MODIFIER | HG02723.hp1 HG02895.hp1 HG02896.hp1 others(2): Show |
a0001a0005a0006others(2): Show | a0001c0028a0005c0006a0006c0046others(2): Show | a0001c0028t0015a0005c0006t0003a0006c0046t0001others(2): Show | a0001c0028t0015g0125a0005c0006t0003g0057a0006c0046t0001g0012others(2): Show | 5 | 182 | 0.0275 | -8 | c.-61 others(29): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | ||||||
| ATXN1_chr6_16294112_16766460 | 16714181 | CCACACAC others(1): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG01168.hp1 HG01169.hp1 others(17): Show |
a0001a0002a0004others(9): Show | a0001c0001a0002c0002a0002c0004others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(14): Show | a0001c0001t0001g0083a0001c0001t0001g0103a0001c0001t0001g0108others(17): Show | 20 | 182 | 0.1099 | -8 | c.-61 others(29): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | ||||||
| ATXN1_chr6_16294112_16766460 | 16745933 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG00735.hp1 HG01081.hp1 others(49): Show |
a0001a0002a0003others(21): Show | a0001c0001a0001c0028a0001c0052others(27): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0029others(33): Show | a0001c0001t0001g0037a0001c0001t0001g0158a0001c0001t0001g0159others(49): Show | 52 | 182 | 0.2857 | -8 | c.-61 others(27): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | ||||||
| ATXN2L_chr16_28817999_28842232 | 28833706 | TGATCAGG others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp1 HG00642.hp2 others(93): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0012others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(7): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0020others(30): Show | 96 | 382 | 0.2513 | -8 | c.202 others(25): Show |
ATXN2L | ENSG00000168488.19 | transcript | ENST00000336783.9 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| ATXN2_chr12_111447214_111604315 | 111483188 | AACACATA others(1): Show |
A | intron_variant | MODIFIER | HG01167.hp1 HG01243.hp2 HG02040.hp1 others(5): Show |
a0001a0002a0003others(2): Show | a0001c0003a0002c0002a0003c0004others(2): Show | a0001c0003t0001a0002c0002t0001a0003c0004t0003others(2): Show | a0001c0003t0001g0143a0001c0003t0001g0166a0002c0002t0001g0051others(5): Show | 8 | 298 | 0.0269 | -8 | c.252 others(27): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | TogoVar | ||||||
| ATXN2_chr12_111447214_111604315 | 111526409 | TTTTTTTT others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(85): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0003a0001c0008others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(12): Show | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0003g0009others(85): Show | 88 | 298 | 0.2953 | -8 | c.572 others(25): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | TogoVar | ||||||
| ATXN2_chr12_111447214_111604315 | 111588188 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG01993.hp2 HG02109.hp1 HG02135.hp1 others(18): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0004a0001c0003t0001 | a0001c0001t0002g0222a0001c0001t0004g0216a0001c0001t0004g0226others(18): Show | 21 | 298 | 0.0705 | -8 | c.251 others(27): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | TogoVar | ||||||
| ATXN2_chr12_111447214_111604315 | 111592782 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG02145.hp2 HG02451.hp1 HG02622.hp1 others(3): Show |
a0002a0005 | a0002c0002a0005c0009 | a0002c0002t0001a0002c0002t0003a0005c0009t0001 | a0002c0002t0001g0005a0002c0002t0001g0076a0002c0002t0001g0079others(3): Show | 6 | 298 | 0.0201 | -8 | c.251 others(25): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | TogoVar | ||||||
| ATXN7L1_chr7_105599772_105881599 | 105628792 | CAAATAAA others(1): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00558.hp2 HG00642.hp1 others(34): Show |
a0001a0007 | a0001c0001a0001c0005a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0088a0001c0001t0001g0181a0001c0001t0001g0225others(34): Show | 37 | 252 | 0.1468 | -8 | c.120 others(27): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 7/11 | chr7 | TogoVar | ||||||
| ATXN7L1_chr7_105599772_105881599 | 105645810 | CACAAACA others(1): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00642.hp2 others(87): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0006a0001c0007others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(42): Show | a0001c0001t0001g0026a0001c0001t0001g0044a0001c0001t0001g0059others(87): Show | 90 | 252 | 0.3571 | -8 | c.579 others(25): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 4/11 | chr7 | TogoVar | ||||||
| ATXN7L1_chr7_105599772_105881599 | 105662010 | TTTTCTTT others(1): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG01074.hp2 HG01261.hp2 others(15): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0013 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0001g0026a0001c0001t0001g0185a0001c0001t0003g0043others(15): Show | 18 | 252 | 0.0714 | -8 | c.578 others(25): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 4/11 | chr7 | TogoVar | ||||||
| ATXN7L1_chr7_105599772_105881599 | 105662023 | TTTCTTTC others(1): Show |
T | intron_variant | MODIFIER | HG00558.hp1 HG01099.hp2 HG01358.hp1 others(12): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(8): Show | a0001c0001t0002g0048a0001c0001t0002g0049a0001c0001t0002g0179others(12): Show | 15 | 252 | 0.0595 | -8 | c.578 others(25): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 4/11 | chr7 | TogoVar | ||||||
| ATXN7L1_chr7_105599772_105881599 | 105671104 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG01175.hp2 HG01346.hp1 HG02056.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0185a0001c0001t0003g0043a0001c0001t0004g0127others(9): Show | 12 | 252 | 0.0476 | -8 | c.356 others(25): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | ||||||
| ATXN7L1_chr7_105599772_105881599 | 105692370 | TTTCCTTC others(1): Show |
T | intron_variant | MODIFIER | HG01515.hp1 HG02071.hp1 HG02129.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0002g0002a0001c0001t0002g0042a0001c0001t0002g0048others(6): Show | 9 | 252 | 0.0357 | -8 | c.356 others(27): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | ||||||
| ATXN7L1_chr7_105599772_105881599 | 105692420 | TCCTTCCT others(1): Show |
T | intron_variant | MODIFIER | HG01516.hp1 HG02630.hp1 HG03490.hp1 |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0025 | a0001c0001t0017g0213a0001c0001t0025g0104a0001c0001t0025g0240 | 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 | 105693534 | CCCATCCA others(1): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG00735.hp1 HG01069.hp2 others(14): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0059a0001c0001t0002g0239a0001c0001t0004g0084others(14): Show | 17 | 252 | 0.0675 | -8 | c.356 others(27): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | ||||||
| ATXN7L1_chr7_105599772_105881599 | 105716665 | GCACACAC others(1): Show |
G | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG01192.hp1 others(37): Show |
a0001a0003 | a0001c0001a0001c0008a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0009a0001c0001t0001g0017a0001c0001t0001g0044others(37): Show | 40 | 252 | 0.1587 | -8 | c.356 others(27): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | ||||||
| ATXN7L1_chr7_105599772_105881599 | 105729301 | GAATAAAT others(1): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00642.hp1 others(100): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(41): Show | a0001c0001t0001g0005a0001c0001t0001g0026a0001c0001t0001g0078others(100): Show | 103 | 252 | 0.4087 | -8 | c.355 others(27): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | ||||||
| ATXN7L1_chr7_105599772_105881599 | 105790606 | TTATCTAT others(1): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG01175.hp1 others(12): Show |
a0001a0004 | a0001c0001a0004c0013 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(7): Show | a0001c0001t0001g0003a0001c0001t0001g0108a0001c0001t0001g0205others(12): Show | 15 | 252 | 0.0595 | -8 | c.251 others(25): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 2/11 | chr7 | TogoVar | ||||||
| ATXN7L1_chr7_105599772_105881599 | 105820126 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00642.hp1 others(67): Show |
a0001a0003a0004 | a0001c0001a0001c0004a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0009a0001c0001t0001g0017a0001c0001t0001g0033others(67): Show | 70 | 252 | 0.2778 | -8 | c.251 others(27): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 2/11 | chr7 | TogoVar | ||||||
| ATXN7L1_chr7_105599772_105881599 | 105845204 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00558.hp1 HG00673.hp2 HG02083.hp1 others(20): Show |
a0001a0002a0005 | a0001c0001a0001c0008a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0088a0001c0001t0001g0145a0001c0001t0001g0163others(20): Show | 23 | 252 | 0.0913 | -8 | c.250 others(27): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 2/11 | chr7 | TogoVar | ||||||
| ATXN7L1_chr7_105599772_105881599 | 105860140 | TATATATA others(1): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG01074.hp1 HG01243.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0006others(6): Show | a0001c0001t0004g0124a0001c0001t0004g0128a0001c0001t0005g0126others(10): Show | 13 | 252 | 0.0516 | -8 | c.250 others(27): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 2/11 | chr7 | TogoVar | ||||||
| ATXN7L3B_chr12_74532835_74550430 | 74536670 | CTTTTTTT others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp2 others(26): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0015a0001c0001t0016others(12): Show | a0001c0001t0001g0000a0001c0001t0015g0000a0001c0001t0016g0000others(12): Show | 29 | 408 | 0.0711 | -8 | c.-14 others(19): Show |
ATXN7L3B | ENSG00000253719.4 | transcript | ENST00000519948.4 | protein_coding | 1164 | chr12 | TogoVar | ||||||
| ATXN7L3B_chr12_74532835_74550430 | 74541129 | AGTGTGTG others(1): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00544.hp2 others(123): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0015a0001c0001t0017others(15): Show | a0001c0001t0002g0000a0001c0001t0015g0000a0001c0001t0017g0000others(15): Show | 126 | 408 | 0.3088 | -8 | c.*27 others(19): Show |
ATXN7L3B | ENSG00000253719.4 | transcript | ENST00000519948.4 | protein_coding | 1/1 | 2732 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||
| ATXN7_chr3_63858867_64008462 | 63884234 | CACACACA others(1): Show |
C | intron_variant | MODIFIER | HG00597.hp1 HG03710.hp1 NA18970.hp1 others(6): Show |
a0003a0005a0025 | a0003c0004a0005c0005a0005c0026others(1): Show | a0003c0004t0003a0003c0004t0022a0005c0005t0003others(2): Show | a0003c0004t0003g0170a0003c0004t0003g0199a0003c0004t0022g0195others(6): Show | 9 | 300 | 0.0300 | -8 | c.-11 others(29): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| ATXN7_chr3_63858867_64008462 | 63884237 | ACACATAC others(1): Show |
A | intron_variant | MODIFIER | HG01070.hp2 HG02647.hp1 HG02922.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0018a0002c0002t0044 | a0002c0002t0018g0140a0002c0002t0018g0143a0002c0002t0018g0144others(1): Show | 4 | 300 | 0.0133 | -8 | c.-11 others(29): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| ATXN7_chr3_63858867_64008462 | 63892374 | CCACACAC others(1): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02258.hp1 HG02809.hp1 others(5): Show |
a0002a0009a0014 | a0002c0002a0009c0009a0014c0018 | a0002c0002t0058a0009c0009t0020a0009c0009t0049others(3): Show | a0002c0002t0058g0032a0009c0009t0020g0154a0009c0009t0020g0156others(5): Show | 8 | 300 | 0.0267 | -8 | c.-11 others(27): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| ATXN7_chr3_63858867_64008462 | 63940285 | TCACACAC others(1): Show |
T | intron_variant | MODIFIER | NA18982.hp2 NA19065.hp1 homoSapiens_chm13v2.hp1 |
a0001a0006a0018 | a0001c0001a0006c0010a0018c0025 | a0001c0001t0011a0006c0010t0001a0018c0025t0002 | a0001c0001t0011g0246a0006c0010t0001g0109a0018c0025t0002g0257 | 3 | 300 | 0.0100 | -8 | c.395 others(27): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| ATXN7_chr3_63858867_64008462 | 63952835 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00733.hp2 HG00735.hp1 HG02145.hp1 others(16): Show |
a0002a0004a0013others(1): Show | a0002c0002a0004c0006a0004c0027others(2): Show | a0002c0002t0059a0002c0002t0061a0004c0006t0004others(5): Show | a0002c0002t0059g0004a0002c0002t0061g0004a0004c0006t0004g0003others(15): Show | 19 | 300 | 0.0633 | -8 | c.499 others(23): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| ATXN7_chr3_63858867_64008462 | 63964073 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG01070.hp2 HG01192.hp2 HG02258.hp1 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0018a0002c0002t0042a0002c0002t0043others(3): Show | a0002c0002t0018g0140a0002c0002t0018g0143a0002c0002t0018g0144others(5): Show | 8 | 300 | 0.0267 | -8 | c.499 others(27): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| ATXN7_chr3_63858867_64008462 | 64004280 | TTCAACTG others(1): Show |
T | downstream_gene_variant | MODIFIER | HG03130.hp1 HG03195.hp1 HG03225.hp1 others(2): Show |
a0001a0023 | a0001c0001a0023c0031 | a0001c0001t0001a0001c0001t0012a0023c0031t0009 | a0001c0001t0001g0043a0001c0001t0001g0123a0001c0001t0001g0127others(2): Show | 5 | 300 | 0.0167 | -8 | c.*48 others(19): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 819 | chr3 | TogoVar | ||||||
| AUNIP_chr1_25829006_25864457 | 25847818 | GCCTGTGG others(1): Show |
G | intron_variant | MODIFIER | HG01099.hp1 HG02622.hp1 HG02886.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0011a0002c0002t0004g0071a0002c0002t0004g0072others(1): Show | 6 | 352 | 0.0171 | -8 | c.79- others(25): Show |
AUNIP | ENSG00000127423.11 | transcript | ENST00000374298.4 | protein_coding | 1/2 | chr1 | TogoVar | ||||||
| AUNIP_chr1_25829006_25864457 | 25860896 | TTATGTGT others(1): Show |
T | upstream_gene_variant | MODIFIER | HG01167.hp1 HG02451.hp1 NA18951.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0009a0001c0001t0004g0218a0001c0001t0004g0219others(1): Show | 5 | 352 | 0.0142 | -8 | c.-15 others(19): Show |
AUNIP | ENSG00000127423.11 | transcript | ENST00000374298.4 | protein_coding | 1440 | chr1 | TogoVar | ||||||
| AUNIP_chr1_25829006_25864457 | 25860898 | ATGTGTGT others(1): Show |
A | upstream_gene_variant | MODIFIER | HG01109.hp2 HG01243.hp1 HG01884.hp2 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0005a0001c0001t0001g0025a0001c0001t0001g0029others(16): Show | 25 | 352 | 0.0710 | -8 | c.-15 others(19): Show |
AUNIP | ENSG00000127423.11 | transcript | ENST00000374298.4 | protein_coding | 1442 | chr1 | TogoVar | ||||||
| AURKB_chr17_8199734_8215575 | 8208593 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG02572.hp2 HG02809.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035a0001c0001t0001g0048 | 3 | 428 | 0.0070 | -8 | c.49- others(21): Show |
AURKB | ENSG00000178999.13 | transcript | ENST00000585124.6 | protein_coding | 2/8 | chr17 | TogoVar | ||||||
| AURKB_chr17_8199734_8215575 | 8214581 | GATATATA others(1): Show |
G | upstream_gene_variant | MODIFIER | HG01891.hp1 HG02071.hp2 HG02109.hp1 others(10): Show |
a0001a0002a0003 | a0001c0003a0002c0002a0003c0004 | a0001c0003t0001a0002c0002t0001a0003c0004t0001 | a0001c0003t0001g0029a0002c0002t0001g0002a0002c0002t0001g0021others(2): Show | 13 | 428 | 0.0304 | -8 | c.-40 others(19): Show |
AURKB | ENSG00000178999.13 | transcript | ENST00000585124.6 | protein_coding | 4007 | chr17 | TogoVar | ||||||
| AUTS2_chr7_69593475_70798506 | 69629171 | TAAAATAA others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG01081.hp2 HG01175.hp2 others(15): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0005a0001c0001t0009a0001c0001t0028others(10): Show | a0001c0001t0005g0005a0001c0001t0005g0012a0001c0001t0005g0015others(15): Show | 18 | 76 | 0.2368 | -8 | c.309 others(27): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| AUTS2_chr7_69593475_70798506 | 69670555 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG01081.hp2 HG02055.hp2 others(9): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0005a0001c0001t0009a0001c0001t0028others(6): Show | a0001c0001t0005g0012a0001c0001t0005g0015a0001c0001t0009g0006others(9): Show | 12 | 76 | 0.1579 | -8 | c.309 others(27): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| AUTS2_chr7_69593475_70798506 | 69671486 | GGTGTGTG others(1): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00597.hp1 HG01433.hp1 others(8): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0001g0071a0001c0001t0001g0073a0001c0001t0001g0074others(8): Show | 11 | 76 | 0.1447 | -8 | c.309 others(27): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| AUTS2_chr7_69593475_70798506 | 69689640 | TTTTATTT others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG01884.hp1 HG01934.hp2 others(5): Show |
a0001a0005 | a0001c0001a0005c0011 | a0001c0001t0001a0001c0001t0006a0001c0001t0014others(4): Show | a0001c0001t0001g0030a0001c0001t0001g0058a0001c0001t0006g0038others(5): Show | 8 | 76 | 0.1053 | -8 | c.309 others(27): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| AUTS2_chr7_69593475_70798506 | 69703121 | TGCCTGTG others(1): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG01884.hp1 HG02257.hp2 others(4): Show |
a0001 | a0001c0001a0001c0004a0001c0007 | a0001c0001t0005a0001c0001t0006a0001c0001t0014others(3): Show | a0001c0001t0005g0028a0001c0001t0006g0010a0001c0001t0006g0038others(4): Show | 7 | 76 | 0.0921 | -8 | c.309 others(29): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | chr7 | TogoVar | ||||||
| AUTS2_chr7_69593475_70798506 | 69783088 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG01081.hp2 HG01175.hp2 others(16): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0005a0001c0001t0009a0001c0001t0018others(11): Show | a0001c0001t0005g0005a0001c0001t0005g0012a0001c0001t0005g0015others(16): Show | 19 | 76 | 0.2500 | -8 | c.310 others(29): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| AUTS2_chr7_69593475_70798506 | 69879120 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00597.hp1 HG01081.hp1 others(29): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(17): Show | a0001c0001t0001g0026a0001c0001t0001g0033a0001c0001t0001g0036others(29): Show | 32 | 76 | 0.4211 | -8 | c.310 others(27): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| AUTS2_chr7_69593475_70798506 | 69926441 | GTCTGTCT others(1): Show |
G | intron_variant | MODIFIER | HG01081.hp2 HG02055.hp2 HG02615.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0005a0001c0001t0009a0001c0001t0014others(5): Show | a0001c0001t0005g0015a0001c0001t0009g0006a0001c0001t0009g0008others(6): Show | 9 | 76 | 0.1184 | -8 | c.522 others(27): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| AUTS2_chr7_69593475_70798506 | 69946557 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00597.hp2 others(13): Show |
a0001a0004 | a0001c0001a0004c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0044a0001c0001t0001g0058a0001c0001t0002g0045others(13): Show | 16 | 76 | 0.2105 | -8 | c.522 others(27): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |