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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATXN7L1_chr7_105599772_105881599 | 105820126 | CAAAAA | C | intron_variant | MODIFIER | HG01074.hp1 HG01243.hp1 HG01255.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0013others(1): Show | a0001c0001t0001g0238 a0001c0001t0008g0229 a0001c0001t0013g0191 others(2): Show |
5 | 59 | 0.0847 | -5 | c.251 others(24): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 2/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105845204 | CAAAAA | C | intron_variant | MODIFIER | HG01433.hp2 HG01952.hp1 HG02056.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0144 a0001c0001t0001g0249 a0001c0001t0001g0251 others(8): Show |
11 | 45 | 0.2444 | -5 | c.250 others(24): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 2/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105873156 | AAAAAC | A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(243): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0004a0001c0005others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(62): Show | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0011 others(243): Show |
246 | 250 | 0.9840 | -5 | c.250 others(22): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 2/11 | chr7 | TogoVar | |||||||
ATXN7_chr3_63858867_64008462 | 63865894 | CAAAAA | C | intron_variant | MODIFIER | HG01934.hp2 HG02257.hp2 HG02280.hp2 others(9): Show |
a0004 | a0004c0006a0004c0013a0004c0028 | a0004c0006t0004a0004c0013t0004a0004c0028t0005 | a0004c0006t0004g0003 a0004c0006t0004g0139 a0004c0006t0004g0140 others(8): Show |
12 | 117 | 0.1026 | -5 | c.-11 others(24): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
AUH_chr9_91208823_91366918 | 91249292 | CAAAAA | C | intron_variant | MODIFIER | HG00639.hp2 HG01433.hp1 NA18522.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0001g0022 a0001c0001t0001g0051 a0001c0001t0001g0054 others(4): Show |
7 | 92 | 0.0761 | -5 | c.656 others(24): Show |
AUH | ENSG00000148090.12 | transcript | ENST00000375731.9 | protein_coding | 6/9 | chr9 | TogoVar | |||||||
AUH_chr9_91208823_91366918 | 91286993 | CTTAAT | C | intron_variant | MODIFIER | HG02257.hp1 HG02818.hp2 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 |
3 | 356 | 0.0084 | -5 | c.655 others(22): Show |
AUH | ENSG00000148090.12 | transcript | ENST00000375731.9 | protein_coding | 6/9 | chr9 | TogoVar | |||||||
AUH_chr9_91208823_91366918 | 91353820 | CAAAAA | C | intron_variant | MODIFIER | HG03098.hp1 HG03209.hp2 HG03471.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0004 | a0001c0001t0001g0019 a0001c0001t0001g0059 a0001c0002t0001g0298 others(4): Show |
7 | 194 | 0.0361 | -5 | c.418 others(22): Show |
AUH | ENSG00000148090.12 | transcript | ENST00000375731.9 | protein_coding | 3/9 | chr9 | TogoVar | |||||||
AURKAIP1_chr1_1368736_1380207 | 1376123 | TTCTAC | T | upstream_gene_variant | MODIFIER | HG00544.hp2 HG02083.hp1 HG02083.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 4 | 356 | 0.0112 | -5 | c.-10 others(16): Show |
AURKAIP1 | ENSG00000175756.14 | transcript | ENST00000338338.10 | protein_coding | 917 | chr1 | TogoVar | |||||||
AURKC_chr19_57226023_57240548 | 57234053 | CTTTTT | C | intron_variant | MODIFIER | HG01517.hp1 HG02735.hp1 HG02976.hp1 others(3): Show |
a0001a0004 | a0001c0001a0004c0008 | a0001c0001t0001a0004c0008t0001 | a0001c0001t0001g0007 a0004c0008t0001g0007 |
6 | 156 | 0.0385 | -5 | c.584 others(20): Show |
AURKC | ENSG00000105146.14 | transcript | ENST00000302804.12 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
AURKC_chr19_57226023_57240548 | 57237475 | CTAATT | C | downstream_gene_variant | MODIFIER | HG02135.hp1 NA18946.hp1 NA18950.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 5 | 408 | 0.0123 | -5 | c.*20 others(16): Show |
AURKC | ENSG00000105146.14 | transcript | ENST00000302804.12 | protein_coding | 1928 | chr19 | TogoVar | |||||||
AUTS2_chr7_69593475_70798506 | 69674530 | TTAATA | T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00597.hp2 others(25): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0001c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0044 a0001c0001t0001g0058 a0001c0001t0002g0045 others(25): Show |
28 | 76 | 0.3684 | -5 | c.309 others(24): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 69689343 | ATTTTT | A | intron_variant | MODIFIER | HG00099.hp2 HG01081.hp2 HG01175.hp2 others(18): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0005a0001c0001t0009a0001c0001t0015others(13): Show | a0001c0001t0005g0005 a0001c0001t0005g0012 a0001c0001t0005g0015 others(18): Show |
21 | 63 | 0.3333 | -5 | c.309 others(24): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 69762293 | CTTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG02257.hp1 HG03139.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0008a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0058 a0001c0001t0002g0047 a0001c0001t0004g0048 others(2): Show |
5 | 11 | 0.4545 | -5 | c.310 others(26): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 69850398 | CAAAAA | C | intron_variant | MODIFIER | HG00280.hp1 HG01433.hp1 HG01934.hp2 others(2): Show |
a0001a0003 | a0001c0001a0003c0011 | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(1): Show | a0001c0001t0001g0074 a0001c0001t0003g0068 a0001c0001t0003g0072 others(2): Show |
5 | 7 | 0.7143 | -5 | c.310 others(24): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 69863059 | AGATAC | A | intron_variant | MODIFIER | HG00280.hp1 HG00597.hp1 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0026 a0001c0001t0001g0071 a0001c0001t0003g0068 |
3 | 76 | 0.0395 | -5 | c.310 others(24): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 69882150 | CAAAAA | C | intron_variant | MODIFIER | HG00280.hp1 HG00597.hp1 HG01081.hp1 others(8): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0020others(2): Show | a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0036 others(8): Show |
11 | 38 | 0.2895 | -5 | c.310 others(24): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70011314 | TCTCTC | T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00741.hp1 others(16): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0026 a0001c0001t0001g0044 a0001c0001t0001g0073 others(16): Show |
19 | 37 | 0.5135 | -5 | c.523 others(26): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70040578 | GTTGGC | G | intron_variant | MODIFIER | HG00099.hp2 HG01081.hp2 HG01175.hp2 others(18): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0005a0001c0001t0009a0001c0001t0018others(13): Show | a0001c0001t0005g0005 a0001c0001t0005g0012 a0001c0001t0005g0015 others(18): Show |
21 | 76 | 0.2763 | -5 | c.523 others(24): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70162445 | CAAAAA | C | intron_variant | MODIFIER | HG00280.hp1 HG00597.hp1 HG00741.hp1 others(17): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(11): Show | a0001c0001t0001g0026 a0001c0001t0001g0034 a0001c0001t0001g0071 others(17): Show |
20 | 21 | 0.9524 | -5 | c.660 others(24): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70170216 | GTGGCA | G | intron_variant | MODIFIER | HG02647.hp2 HG02717.hp2 |
a0001 | a0001c0001 | a0001c0001t0032a0001c0001t0035 | a0001c0001t0032g0016 a0001c0001t0035g0019 |
2 | 76 | 0.0263 | -5 | c.660 others(24): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70224331 | GTACAA | G | intron_variant | MODIFIER | HG00099.hp1 HG00597.hp2 HG01175.hp1 others(9): Show |
a0001a0004a0005 | a0001c0001a0004c0006a0005c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0036 a0001c0001t0001g0058 a0001c0001t0002g0045 others(9): Show |
12 | 22 | 0.5455 | -5 | c.660 others(24): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70245132 | AAGTGT | A | intron_variant | MODIFIER | HG01081.hp1 HG01175.hp1 HG02165.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0015others(2): Show | a0001c0001t0001g0032 a0001c0001t0001g0036 a0001c0001t0001g0037 others(4): Show |
7 | 62 | 0.1129 | -5 | c.660 others(26): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 4/18 | chr7 | TogoVar | |||||||
AUTS2_chr7_69593475_70798506 | 70399751 | AAAAAT | A | intron_variant | MODIFIER | HG00280.hp1 HG00597.hp1 HG01175.hp2 others(22): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(17): Show | a0001c0001t0001g0026 a0001c0001t0001g0071 a0001c0001t0001g0073 others(22): Show |
25 | 76 | 0.3289 | -5 | c.661 others(24): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70511561 | CTTTTT | C | intron_variant | MODIFIER | HG00597.hp1 HG01081.hp2 HG01934.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0001g0026 a0001c0001t0001g0071 a0001c0001t0004g0042 others(3): Show |
6 | 22 | 0.2727 | -5 | c.690 others(24): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70576961 | ACAAAC | A | intron_variant | MODIFIER | HG01081.hp2 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0032 a0001c0001t0005g0015 |
2 | 76 | 0.0263 | -5 | c.691 others(26): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70585871 | TGTATG | T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(23): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0037 a0001c0001t0001g0044 a0001c0001t0001g0058 others(23): Show |
26 | 76 | 0.3421 | -5 | c.691 others(26): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 5/18 | chr7 | TogoVar | |||||||
AUTS2_chr7_69593475_70798506 | 70626358 | TAAAAA | T | intron_variant | MODIFIER | HG01081.hp1 HG01175.hp2 HG01433.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0008a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(6): Show | a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0073 others(8): Show |
11 | 20 | 0.5500 | -5 | c.691 others(24): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70642388 | TCTATC | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(63): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(37): Show | a0001c0001t0001g0026 a0001c0001t0001g0032 a0001c0001t0001g0036 others(63): Show |
66 | 76 | 0.8684 | -5 | c.691 others(24): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70703490 | CAAAAA | C | intron_variant | MODIFIER | HG00741.hp2 HG01081.hp2 HG01433.hp1 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0044 a0001c0001t0001g0074 a0001c0001t0002g0053 others(11): Show |
14 | 22 | 0.6364 | -5 | c.742 others(22): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70715507 | TTTTTC | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(58): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0026 a0001c0001t0001g0032 a0001c0001t0001g0034 others(58): Show |
61 | 75 | 0.8133 | -5 | c.742 others(24): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70728707 | CAAAAA | C | intron_variant | MODIFIER | HG00280.hp1 HG00597.hp1 HG00597.hp2 others(16): Show |
a0001a0003a0004 | a0001c0001a0001c0003a0003c0011others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0034 a0001c0001t0001g0071 a0001c0001t0002g0045 others(16): Show |
19 | 46 | 0.4130 | -5 | c.742 others(24): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70739804 | TAAAAA | T | intron_variant | MODIFIER | HG00099.hp2 HG01081.hp1 HG02717.hp1 others(1): Show |
a0001a0005 | a0001c0001a0005c0009 | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(1): Show | a0001c0001t0001g0037 a0001c0001t0004g0054 a0001c0001t0009g0023 others(1): Show |
4 | 9 | 0.4444 | -5 | c.743 others(24): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70784769 | AAAAAC | A | intron_variant | MODIFIER | HG01433.hp1 HG01884.hp2 HG01934.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(2): Show | a0001c0001t0001g0074 a0001c0001t0004g0042 a0001c0001t0010g0065 others(2): Show |
5 | 76 | 0.0658 | -5 | c.214 others(22): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AVEN_chr15_33861227_34044204 | 33865507 | TAGTTC | T | downstream_gene_variant | MODIFIER | HG01069.hp2 HG01192.hp2 HG02602.hp1 |
a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0002 a0003c0003t0003g0011 a0003c0003t0003g0012 |
3 | 264 | 0.0114 | -5 | c.*11 others(16): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 719 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 33873088 | CCTTTT | C | intron_variant | MODIFIER | HG02145.hp2 HG02258.hp2 HG02572.hp1 others(2): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0004c0005t0007 | a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0100 others(2): Show |
5 | 264 | 0.0189 | -5 | c.517 others(22): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 3/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 33883340 | CTTTAA | C | intron_variant | MODIFIER | HG01109.hp1 HG01346.hp2 HG01433.hp2 others(47): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0001others(5): Show | a0001c0001t0001g0057 a0001c0001t0001g0070 a0001c0001t0001g0071 others(47): Show |
50 | 264 | 0.1894 | -5 | c.446 others(22): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 33890614 | TAACTC | T | intron_variant | MODIFIER | HG02083.hp1 NA18957.hp2 NA18968.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0230 a0001c0001t0002g0185 a0001c0001t0002g0220 others(1): Show |
4 | 264 | 0.0152 | -5 | c.446 others(24): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 33899460 | CTTTTT | C | intron_variant | MODIFIER | HG00597.hp1 HG01069.hp1 HG01069.hp2 others(7): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0003c0003t0003 | a0001c0001t0001g0099 a0001c0001t0001g0105 a0001c0001t0001g0114 others(7): Show |
10 | 15 | 0.6667 | -5 | c.446 others(24): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 33905130 | CAAAAA | C | intron_variant | MODIFIER | HG01106.hp2 HG01346.hp2 HG03209.hp2 others(7): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0003others(1): Show | a0001c0001t0001g0029 a0001c0001t0001g0070 a0001c0001t0001g0075 others(7): Show |
10 | 23 | 0.4348 | -5 | c.446 others(24): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 33934580 | TGTGAA | T | intron_variant | MODIFIER | HG02109.hp1 HG02559.hp1 HG02647.hp2 others(6): Show |
a0001a0004 | a0001c0001a0004c0004a0004c0008 | a0001c0001t0001a0001c0001t0004a0004c0004t0001others(1): Show | a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 others(6): Show |
9 | 264 | 0.0341 | -5 | c.446 others(24): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 33937932 | CAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG01070.hp1 HG01496.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0171 a0001c0001t0001g0207 a0001c0001t0001g0213 others(3): Show |
6 | 27 | 0.2222 | -5 | c.446 others(24): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 33962919 | CAAAAA | C | intron_variant | MODIFIER | HG01255.hp1 HG01346.hp1 HG02280.hp1 others(7): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0001c0001t0004a0004c0005t0007 | a0001c0001t0001g0054 a0001c0001t0001g0062 a0001c0001t0001g0097 others(7): Show |
10 | 15 | 0.6667 | -5 | c.445 others(24): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 33968099 | TAAAAA | T | intron_variant | MODIFIER | HG02486.hp2 HG03540.hp2 NA18943.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0088 others(2): Show |
5 | 25 | 0.2000 | -5 | c.445 others(24): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 33975932 | GAAGAA | G | intron_variant | MODIFIER | HG01109.hp2 HG01891.hp1 HG02145.hp1 others(4): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0005a0004c0004t0001 | a0001c0001t0001g0094 a0001c0001t0001g0105 a0001c0001t0001g0116 others(4): Show |
7 | 264 | 0.0265 | -5 | c.445 others(24): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 33986099 | TTTTTG | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(229): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0012a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 others(228): Show |
232 | 264 | 0.8788 | -5 | c.445 others(24): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 34008914 | TTAAGA | T | intron_variant | MODIFIER | HG00558.hp1 HG00597.hp2 HG01943.hp2 others(27): Show |
a0001a0002 | a0001c0001a0001c0012a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0058 others(27): Show |
30 | 264 | 0.1136 | -5 | c.268 others(22): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 34014380 | AAAAAC | A | intron_variant | MODIFIER | HG01109.hp2 HG01169.hp2 HG01257.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 others(8): Show |
11 | 264 | 0.0417 | -5 | c.268 others(24): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 34017267 | ACAAAG | A | intron_variant | MODIFIER | HG01169.hp2 HG01257.hp1 HG01952.hp1 others(7): Show |
a0001a0008 | a0001c0001a0008c0009 | a0001c0001t0001a0001c0001t0002a0008c0009t0002 | a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 others(7): Show |
10 | 264 | 0.0379 | -5 | c.268 others(24): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 34039207 | AGCGGG | A | upstream_gene_variant | MODIFIER | HG02886.hp1 HG03209.hp1 HG03225.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0005g0022 others(3): Show |
6 | 264 | 0.0227 | -5 | c.-16 others(14): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 4 | chr15 | TogoVar | |||||||
AVL9_chr7_32490489_32593726 | 32494361 | CAGAAA | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00423.hp2 others(163): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0013others(45): Show | a0001c0001t0001g0014 a0001c0001t0001g0040 a0001c0001t0001g0051 others(162): Show |
166 | 328 | 0.5061 | -5 | c.-13 others(16): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 1127 | chr7 | TogoVar |