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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATXN3_chr14_92053552_92111582 | 92072694 | TAAAAA | T | intron_variant | MODIFIER | HG01109.hp1 HG01168.hp2 HG02055.hp1 others(9): Show |
a0003a0004a0006others(4): Show | a0003c0003a0004c0026a0006c0005others(5): Show | a0003c0003t0001a0003c0003t0002a0004c0026t0057others(9): Show | a0003c0003t0001g0077a0003c0003t0002g0321a0004c0026t0057g0386others(9): Show | 12 | 402 | 0.0299 | -5 | c.873 others(22): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 9/10 | chr14 | TogoVar | ||||||
ATXN3_chr14_92053552_92111582 | 92085499 | GATTTT | G | intron_variant | MODIFIER | HG00323.hp2 HG01069.hp1 HG01167.hp1 others(23): Show |
a0007a0010a0012others(7): Show | a0007c0010a0010c0011a0012c0016others(8): Show | a0007c0010t0006a0007c0010t0019a0010c0011t0006others(16): Show | a0007c0010t0006g0377a0007c0010t0006g0381a0007c0010t0019g0151others(23): Show | 26 | 402 | 0.0647 | -5 | c.476 others(22): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 6/10 | chr14 | TogoVar | ||||||
ATXN3_chr14_92053552_92111582 | 92099882 | AAAGAC | A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(110): Show |
a0002a0003a0004others(16): Show | a0002c0002a0002c0007a0003c0003others(23): Show | a0002c0002t0003a0002c0002t0017a0002c0002t0089others(54): Show | a0002c0002t0003g0008a0002c0002t0003g0351a0002c0002t0003g0352others(107): Show | 113 | 402 | 0.2811 | -5 | c.25- others(20): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 1/10 | chr14 | TogoVar | ||||||
ATXN3_chr14_92053552_92111582 | 92109432 | CAAAAA | C | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00639.hp1 others(73): Show |
a0002a0003a0004others(20): Show | a0002c0002a0003c0003a0004c0004others(26): Show | a0002c0002t0089a0003c0003t0074a0004c0004t0005others(47): Show | a0002c0002t0089g0382a0003c0003t0074g0364a0004c0004t0005g0296others(72): Show | 76 | 402 | 0.1891 | -5 | c.-28 others(16): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 2851 | chr14 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105601974 | TCTTTG | T | downstream_gene_variant | MODIFIER | HG01175.hp1 HG01243.hp1 HG01256.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0028a0001c0001t0029others(2): Show | a0001c0001t0015g0019a0001c0001t0015g0060a0001c0001t0015g0109others(9): Show | 12 | 252 | 0.0476 | -5 | c.*58 others(16): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 2797 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105619530 | ATTTTT | A | intron_variant | MODIFIER | HG01109.hp2 HG02148.hp2 HG03130.hp1 others(2): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0016a0001c0001t0018a0001c0001t0019others(2): Show | a0001c0001t0016g0069a0001c0001t0018g0131a0001c0001t0019g0230others(2): Show | 5 | 252 | 0.0198 | -5 | c.151 others(22): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 9/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105662082 | CTTTCT | C | intron_variant | MODIFIER | HG00323.hp1 HG02132.hp2 HG02135.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0001g0185a0001c0001t0003g0043a0001c0001t0005g0182others(2): Show | 5 | 252 | 0.0198 | -5 | c.578 others(22): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 4/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105722560 | TAAAAA | T | intron_variant | MODIFIER | HG00558.hp1 HG01261.hp2 HG01981.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0003a0001c0001t0001g0044a0001c0001t0001g0185others(19): Show | 22 | 252 | 0.0873 | -5 | c.356 others(24): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105731748 | AAAAAG | A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00735.hp1 others(9): Show |
a0001a0004 | a0001c0001a0004c0013 | a0001c0001t0001a0001c0001t0004a0001c0001t0012others(6): Show | a0001c0001t0001g0082a0001c0001t0004g0084a0001c0001t0004g0198others(9): Show | 12 | 252 | 0.0476 | -5 | c.355 others(24): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105787020 | GGCTCT | G | intron_variant | MODIFIER | HG02071.hp2 HG02135.hp2 HG02155.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0185a0001c0001t0002g0053a0001c0001t0002g0153others(4): Show | 7 | 252 | 0.0278 | -5 | c.355 others(22): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105790638 | CTATCT | C | intron_variant | MODIFIER | HG01192.hp2 HG01943.hp2 HG01978.hp1 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0016a0001c0001t0018a0001c0007t0038 | a0001c0001t0016g0176a0001c0001t0018g0094a0001c0007t0038g0158 | 3 | 252 | 0.0119 | -5 | c.251 others(22): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 2/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105814576 | TTTTTG | T | intron_variant | MODIFIER | HG01074.hp1 HG01243.hp1 HG02145.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0017a0001c0001t0060 | a0001c0001t0015g0193a0001c0001t0017g0194a0001c0001t0017g0195others(1): Show | 4 | 252 | 0.0159 | -5 | c.251 others(24): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 2/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105820126 | CAAAAA | C | intron_variant | MODIFIER | HG01074.hp1 HG01243.hp1 HG01255.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0015a0001c0001t0017others(1): Show | a0001c0001t0003g0238a0001c0001t0015g0193a0001c0001t0017g0194others(2): Show | 5 | 252 | 0.0198 | -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 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0102a0001c0001t0002g0021a0001c0001t0002g0231others(8): Show | 11 | 252 | 0.0437 | -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(244): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0004a0001c0005others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(72): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0009others(244): Show | 247 | 252 | 0.9802 | -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 |
a0004a0006a0013 | a0004c0006a0006c0028a0013c0013 | a0004c0006t0004a0004c0006t0024a0006c0028t0041others(1): Show | a0004c0006t0004g0003a0004c0006t0004g0132a0004c0006t0004g0133others(8): Show | 12 | 300 | 0.0400 | -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 | a0001c0001t0001g0022a0001c0001t0001g0051a0001c0001t0001g0054others(4): Show | 7 | 358 | 0.0196 | -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 | a0001c0001t0001g0277a0001c0001t0001g0278a0001c0001t0001g0279 | 3 | 358 | 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 | a0001c0001t0001g0019a0001c0001t0001g0059a0001c0002t0001g0261others(4): Show | 7 | 358 | 0.0196 | -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 | 358 | 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 | a0001c0001t0001g0007a0004c0008t0001g0007 | 6 | 410 | 0.0146 | -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 | 410 | 0.0122 | -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 |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0044a0001c0001t0001g0058a0001c0001t0002g0045others(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 | a0001c0001t0005g0005a0001c0001t0005g0012a0001c0001t0005g0015others(18): Show | 21 | 76 | 0.2763 | -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 | a0001c0001t0001g0058a0001c0001t0002g0047a0001c0001t0004g0048others(2): Show | 5 | 76 | 0.0658 | -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 |
a0001a0005 | a0001c0001a0005c0011 | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(1): Show | a0001c0001t0001g0073a0001c0001t0003g0068a0001c0001t0003g0076others(2): Show | 5 | 76 | 0.0658 | -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 | a0001c0001t0001g0026a0001c0001t0001g0071a0001c0001t0003g0068 | 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 |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0020others(2): Show | a0001c0001t0001g0030a0001c0001t0001g0033a0001c0001t0001g0036others(8): Show | 11 | 76 | 0.1447 | -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 | a0001c0001t0001g0026a0001c0001t0001g0044a0001c0001t0001g0073others(16): Show | 19 | 76 | 0.2500 | -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 | a0001c0001t0005g0005a0001c0001t0005g0012a0001c0001t0005g0015others(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 |
a0001a0005 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(11): Show | a0001c0001t0001g0026a0001c0001t0001g0033a0001c0001t0001g0071others(17): Show | 20 | 76 | 0.2632 | -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 | a0001c0001t0032g0016a0001c0001t0035g0019 | 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 |
a0001a0003a0004 | a0001c0001a0003c0006a0004c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0037a0001c0001t0001g0058a0001c0001t0002g0045others(9): Show | 12 | 76 | 0.1579 | -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 | a0001c0001t0001g0030a0001c0001t0001g0036a0001c0001t0001g0037others(4): Show | 7 | 76 | 0.0921 | -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 | a0001c0001t0001g0026a0001c0001t0001g0071a0001c0001t0001g0073others(22): Show | 25 | 76 | 0.3290 | -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 | a0001c0001t0001g0026a0001c0001t0001g0071a0001c0001t0004g0042others(3): Show | 6 | 76 | 0.0790 | -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 | a0001c0001t0001g0030a0001c0001t0005g0015 | 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 | a0001c0001t0001g0036a0001c0001t0001g0044a0001c0001t0001g0058others(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 | a0001c0001t0001g0033a0001c0001t0001g0036a0001c0001t0001g0074others(8): Show | 11 | 76 | 0.1447 | -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 | a0001c0001t0001g0026a0001c0001t0001g0030a0001c0001t0001g0037others(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 | a0001c0001t0001g0044a0001c0001t0001g0073a0001c0001t0002g0053others(11): Show | 14 | 76 | 0.1842 | -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 | a0001c0001t0001g0026a0001c0001t0001g0030a0001c0001t0001g0033others(58): Show | 61 | 76 | 0.8026 | -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 |
a0001a0003a0005 | a0001c0001a0001c0003a0003c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0033a0001c0001t0001g0071a0001c0001t0002g0045others(16): Show | 19 | 76 | 0.2500 | -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 |
a0001a0004 | a0001c0001a0004c0009 | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(1): Show | a0001c0001t0001g0036a0001c0001t0004g0054a0001c0001t0009g0023others(1): Show | 4 | 76 | 0.0526 | -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 | a0001c0001t0001g0073a0001c0001t0004g0042a0001c0001t0010g0065others(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 | a0003c0003t0003g0001a0003c0003t0003g0013a0003c0003t0003g0014 | 3 | 266 | 0.0113 | -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 |
a0001a0007 | a0001c0001a0007c0005 | a0001c0001t0001a0007c0005t0007 | a0001c0001t0001g0151a0001c0001t0001g0152a0001c0001t0001g0199others(2): Show | 5 | 266 | 0.0188 | -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(4): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0001others(5): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0048others(47): Show | 50 | 266 | 0.1880 | -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 | a0001c0001t0001g0089a0001c0001t0002g0046a0001c0001t0002g0076others(1): Show | 4 | 266 | 0.0150 | -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 | a0001c0001t0001g0023a0001c0001t0001g0068a0001c0001t0001g0069others(7): Show | 10 | 266 | 0.0376 | -5 | c.446 others(24): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar |