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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATXN1_chr6_16294112_16766460 | 16730483 | G | GTATATAT others(9): Show |
intron_variant | MODIFIER | NA18955.hp2 NA18973.hp2 |
a0003 | a0003c0002a0003c0009 | a0003c0002t0002a0003c0009t0001 | a0003c0002t0002g0089 a0003c0009t0001g0084 |
2 | 158 | 0.0127 | 16 | c.-61 others(37): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111588188 | A | AAAATAAA others(9): Show |
intron_variant | MODIFIER | HG03453.hp1 NA18906.hp2 |
a0003 | a0003c0004a0003c0006 | a0003c0004t0003a0003c0006t0003 | a0003c0004t0003g0012 a0003c0006t0003g0107 |
2 | 155 | 0.0129 | 16 | c.251 others(35): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111588991 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | NA18948.hp2 NA18964.hp2 NA19088.hp2 |
a0002 | a0002c0002a0002c0016 | a0002c0002t0001a0002c0016t0001 | a0002c0002t0001g0083 a0002c0002t0001g0088 a0002c0016t0001g0077 |
3 | 26 | 0.1154 | 16 | c.251 others(33): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111592782 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00544.hp1 others(24): Show |
a0001 | a0001c0001a0001c0003a0001c0019 | a0001c0001t0002a0001c0001t0006a0001c0003t0003others(1): Show | a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 others(24): Show |
27 | 104 | 0.2596 | 16 | c.251 others(33): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105619140 | G | GTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG01099.hp2 HG02056.hp2 NA18945.hp2 others(4): Show |
a0001 | a0001c0001a0001c0012 | a0001c0001t0002a0001c0001t0007a0001c0001t0011others(2): Show | a0001c0001t0002g0033 a0001c0001t0002g0074 a0001c0001t0002g0085 others(4): Show |
7 | 17 | 0.4118 | 16 | c.151 others(35): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 9/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105662027 | T | TTTCCTTC others(9): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0167 | 1 | 105 | 0.0095 | 16 | c.578 others(33): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 4/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105664575 | G | GTGTGTGT others(9): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02622.hp2 HG02895.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005 | a0001c0001t0001g0202 a0001c0001t0001g0223 a0001c0001t0004g0203 others(1): Show |
4 | 193 | 0.0207 | 16 | c.578 others(31): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 4/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105692370 | T | TTTCCTTC others(9): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0184 | 1 | 166 | 0.0060 | 16 | c.356 others(35): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105692370 | T | TTTCTTTC others(9): Show |
intron_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0053 | 1 | 166 | 0.0060 | 16 | c.356 others(35): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105692407 | T | TTCCTTCC others(9): Show |
intron_variant | MODIFIER | HG01192.hp2 NA19067.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014 | a0001c0001t0001g0174 a0001c0001t0014g0175 |
2 | 218 | 0.0092 | 16 | c.356 others(35): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105727746 | G | GTATATAT others(9): Show |
intron_variant | MODIFIER | HG02630.hp2 HG03471.hp2 NA19043.hp1 |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0009 | a0001c0001t0024a0002c0002t0026a0006c0009t0001 | a0001c0001t0024g0114 a0002c0002t0026g0212 a0006c0009t0001g0096 |
3 | 70 | 0.0429 | 16 | c.355 others(35): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105727746 | G | GTATATGT others(9): Show |
intron_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0088 | 1 | 68 | 0.0147 | 16 | c.355 others(35): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105727746 | G | GTGTATAT others(9): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01261.hp1 HG01891.hp1 others(19): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0015 a0001c0001t0001g0030 a0001c0001t0002g0026 others(19): Show |
22 | 89 | 0.2472 | 16 | c.355 others(35): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105727746 | G | GTGTGTAT others(9): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0237 | 1 | 68 | 0.0147 | 16 | c.355 others(35): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105727777 | T | TATATATA others(9): Show |
intron_variant | MODIFIER | HG02559.hp2 NA18994.hp2 NA19074.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007 | a0001c0001t0001g0249 a0001c0001t0003g0187 a0001c0001t0007g0196 |
3 | 173 | 0.0173 | 16 | c.355 others(35): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105727777 | T | TATATATA others(9): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01256.hp2 HG01258.hp2 others(6): Show |
a0001 | a0001c0001a0001c0004a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0011 a0001c0001t0001g0235 a0001c0001t0001g0241 others(6): Show |
9 | 179 | 0.0503 | 16 | c.355 others(35): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105733493 | C | CCCATCCA others(9): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0181 | 1 | 250 | 0.0040 | 16 | c.355 others(35): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105733521 | T | TCCATTCA others(9): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0165 | 1 | 249 | 0.0040 | 16 | c.355 others(35): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105733541 | C | CCCATCCA others(9): Show |
intron_variant | MODIFIER | HG02896.hp2 HG03540.hp2 |
a0002 | a0002c0002 | a0002c0002t0017a0002c0002t0026 | a0002c0002t0017g0221 a0002c0002t0026g0208 |
2 | 236 | 0.0085 | 16 | c.355 others(35): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105790674 | A | ACTATCTA others(9): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00558.hp1 others(19): Show |
a0001a0007 | a0001c0001a0001c0008a0007c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0090 a0001c0001t0001g0223 a0001c0001t0002g0080 others(19): Show |
22 | 37 | 0.5946 | 16 | c.251 others(33): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 2/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105878165 | A | ATTTCCTT others(9): Show |
upstream_gene_variant | MODIFIER | HG02895.hp2 HG02896.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0155 a0001c0001t0002g0145 |
2 | 250 | 0.0080 | 16 | c.-16 others(27): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 1567 | chr7 | TogoVar | |||||||
ATXN7L3B_chr12_74532835_74550430 | 74536670 | C | CTTTTTTT others(9): Show |
upstream_gene_variant | MODIFIER | HG02056.hp1 NA18980.hp1 NA18987.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 5 | 6 | 0.8333 | 16 | c.-14 others(27): Show |
ATXN7L3B | ENSG00000253719.4 | transcript | ENST00000519948.4 | protein_coding | 1164 | chr12 | TogoVar | |||||||
ATXN7_chr3_63858867_64008462 | 64002500 | T | TGTGTGTG others(9): Show |
3_prime_UTR_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0090 | 1 | 298 | 0.0034 | 16 | c.*30 others(27): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 13/13 | 3059 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
AUH_chr9_91208823_91366918 | 91347212 | T | TTTTGTTT others(9): Show |
intron_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 62 | 0.0161 | 16 | c.418 others(33): Show |
AUH | ENSG00000148090.12 | transcript | ENST00000375731.9 | protein_coding | 3/9 | chr9 | TogoVar | |||||||
AURKB_chr17_8199734_8215575 | 8214346 | T | TTGGGGGG others(9): Show |
upstream_gene_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 426 | 0.0023 | 16 | c.-38 others(27): Show |
AURKB | ENSG00000178999.13 | transcript | ENST00000585124.6 | protein_coding | 3772 | chr17 | TogoVar | |||||||
AURKB_chr17_8199734_8215575 | 8214607 | T | TATATATA others(9): Show |
upstream_gene_variant | MODIFIER | HG01192.hp2 HG01358.hp1 HG02523.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0016 a0001c0001t0001g0028 others(1): Show |
9 | 221 | 0.0407 | 16 | c.-41 others(27): Show |
AURKB | ENSG00000178999.13 | transcript | ENST00000585124.6 | protein_coding | 4033 | chr17 | TogoVar | |||||||
AURKC_chr19_57226023_57240548 | 57239587 | T | TAGAGAGA others(9): Show |
downstream_gene_variant | MODIFIER | HG00673.hp2 HG01106.hp1 HG01243.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0001 a0001c0001t0003g0032 |
20 | 106 | 0.1887 | 16 | c.*41 others(27): Show |
AURKC | ENSG00000105146.14 | transcript | ENST00000302804.12 | protein_coding | 4040 | chr19 | TogoVar | |||||||
AUTS2_chr7_69593475_70798506 | 69614314 | C | CTCTTTCT others(9): Show |
intron_variant | MODIFIER | HG01175.hp1 HG02630.hp1 HG02630.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0015others(3): Show | a0001c0001t0001g0036 a0001c0001t0003g0035 a0001c0001t0015g0002 others(3): Show |
6 | 39 | 0.1538 | 16 | c.309 others(35): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 69714249 | A | ATGTGTGT others(9): Show |
intron_variant | MODIFIER | HG03516.hp2 NA20752.hp1 |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0018 | a0001c0001t0015g0002 a0001c0001t0018g0001 |
2 | 27 | 0.0741 | 16 | c.309 others(37): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 69730019 | T | TTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0023 | 1 | 59 | 0.0169 | 16 | c.309 others(37): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | chr7 | TogoVar | |||||||
AUTS2_chr7_69593475_70798506 | 69870447 | T | TTATATAT others(9): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01952.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0009 | a0001c0001t0005g0005 a0001c0001t0009g0023 |
2 | 60 | 0.0333 | 16 | c.310 others(35): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | chr7 | TogoVar | |||||||
AUTS2_chr7_69593475_70798506 | 69870448 | A | AATATATA others(9): Show |
intron_variant | MODIFIER | HG00741.hp1 HG02615.hp1 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0014 | a0001c0001t0007g0040 a0001c0001t0014g0070 |
2 | 20 | 0.1000 | 16 | c.310 others(35): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 69872834 | C | CTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG03579.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0034 | a0001c0001t0009g0008 a0001c0001t0034g0018 |
2 | 25 | 0.0800 | 16 | c.310 others(35): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 69888540 | G | GATAGATA others(9): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0039 | 1 | 11 | 0.0909 | 16 | c.310 others(35): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 69914356 | G | GACACACA others(9): Show |
intron_variant | MODIFIER | HG03041.hp1 HG03225.hp1 |
a0001a0002 | a0001c0005a0002c0002 | a0001c0005t0030a0002c0002t0036 | a0001c0005t0030g0013 a0002c0002t0036g0017 |
2 | 11 | 0.1818 | 16 | c.522 others(35): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 69926445 | G | GTCTGTCT others(9): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 43 | 0.0233 | 16 | c.522 others(35): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70053544 | G | GTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG01175.hp2 HG01952.hp2 HG02886.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0005a0001c0001t0009a0001c0001t0029others(2): Show | a0001c0001t0005g0005 a0001c0001t0009g0006 a0001c0001t0009g0008 others(3): Show |
6 | 33 | 0.1818 | 16 | c.523 others(35): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70245169 | T | TATATATA others(9): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0004 | a0001c0004t0013 | a0001c0004t0013g0024 | 1 | 50 | 0.0200 | 16 | c.660 others(37): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70303434 | G | GCGCACAC others(9): Show |
intron_variant | MODIFIER | HG00280.hp1 HG02717.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0032 | a0001c0001t0003g0068 a0001c0001t0032g0016 |
2 | 37 | 0.0541 | 16 | c.661 others(37): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70303434 | G | GCGCGCGC others(9): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0070 | 1 | 36 | 0.0278 | 16 | c.661 others(37): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70340163 | A | AACACACA others(9): Show |
intron_variant | MODIFIER | HG01433.hp1 HG01934.hp2 HG02647.hp2 |
a0001a0003 | a0001c0001a0003c0011 | a0001c0001t0001a0001c0001t0035a0003c0011t0007 | a0001c0001t0001g0074 a0001c0001t0035g0019 a0003c0011t0007g0004 |
3 | 37 | 0.0811 | 16 | c.661 others(35): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70444373 | T | TGTGTGTG others(9): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 44 | 0.0227 | 16 | c.690 others(33): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70579244 | T | TAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01433.hp2 HG01934.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0011 | a0001c0001t0003a0001c0001t0007a0003c0011t0007 | a0001c0001t0003g0066 a0001c0001t0007g0040 a0001c0001t0007g0055 others(1): Show |
4 | 11 | 0.3636 | 16 | c.691 others(37): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70586426 | A | AGTATAAT others(9): Show |
intron_variant | MODIFIER | HG00597.hp1 HG02165.hp2 HG03017.hp2 others(4): Show |
a0001a0004a0005 | a0001c0001a0004c0006a0005c0009 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0001g0034 a0001c0001t0001g0071 a0001c0001t0003g0033 others(4): Show |
7 | 76 | 0.0921 | 16 | c.691 others(37): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70665451 | C | CTATTTAT others(9): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 31 | 0.0323 | 16 | c.691 others(35): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70665451 | C | CTATTTAT others(9): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02647.hp2 HG02717.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0009a0001c0001t0015a0001c0001t0032others(4): Show | a0001c0001t0009g0006 a0001c0001t0015g0002 a0001c0001t0032g0016 others(4): Show |
7 | 37 | 0.1892 | 16 | c.691 others(35): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70721279 | C | CGTGTGTG others(9): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02055.hp1 HG02258.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0010a0001c0001t0011a0001c0001t0015others(1): Show | a0001c0001t0010g0065 a0001c0001t0011g0041 a0001c0001t0015g0002 others(1): Show |
4 | 21 | 0.1905 | 16 | c.742 others(35): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AVEN_chr15_33861227_34044204 | 33899168 | A | AAAAACAG others(9): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(150): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0034 others(149): Show |
153 | 264 | 0.5795 | 16 | c.446 others(35): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 33899460 | C | CTTTTTTT others(9): Show |
intron_variant | MODIFIER | NA18983.hp2 NA19068.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0152 a0001c0001t0002g0154 |
2 | 7 | 0.2857 | 16 | c.446 others(35): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 33904708 | T | TACACACA others(9): Show |
intron_variant | MODIFIER | NA19079.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0249 | 1 | 116 | 0.0086 | 16 | c.446 others(35): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar |