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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATXN7L1_chr7_105599772_105881599 | 105619531 | T | TATATA | intron_variant | MODIFIER | HG01516.hp2 HG01517.hp1 HG02735.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0028 | a0001c0001t0001g0080a0001c0001t0001g0081a0001c0001t0001g0085others(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 | 105624649 | C | CAAAAA | intron_variant | MODIFIER | HG01981.hp1 HG02083.hp2 HG02135.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009a0001c0001t0015others(4): Show | a0001c0001t0002g0056a0001c0001t0002g0187a0001c0001t0009g0020others(5): Show | 8 | 252 | 0.0318 | 5 | c.120 others(22): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 7/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105641214 | C | CTTTTT | intron_variant | MODIFIER | HG02723.hp2 HG02818.hp2 HG02895.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0013a0002c0002t0022a0002c0002t0030others(2): Show | a0001c0001t0013g0156a0002c0002t0022g0066a0002c0002t0022g0220others(3): Show | 6 | 252 | 0.0238 | 5 | c.862 others(22): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 5/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105656576 | C | CTTTTT | intron_variant | MODIFIER | HG00558.hp2 HG00642.hp1 HG00642.hp2 others(80): Show |
a0001a0002a0006 | a0001c0001a0001c0004a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(37): Show | a0001c0001t0001g0059a0001c0001t0001g0074a0001c0001t0001g0078others(80): Show | 83 | 252 | 0.3294 | 5 | c.578 others(22): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 4/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105722560 | T | TAAAAA | intron_variant | MODIFIER | HG00738.hp2 HG01109.hp1 HG01261.hp1 others(28): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0108a0001c0001t0001g0163a0001c0001t0002g0021others(28): Show | 31 | 252 | 0.1230 | 5 | c.356 others(24): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105722888 | G | GAAATA | intron_variant | MODIFIER | HG01167.hp1 HG01433.hp1 HG01515.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0012a0001c0001t0013 | a0001c0001t0002g0239a0001c0001t0012g0232a0001c0001t0013g0243 | 3 | 252 | 0.0119 | 5 | c.356 others(24): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105731748 | A | AAAAAG | intron_variant | MODIFIER | HG00642.hp2 HG01257.hp1 HG02280.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0012others(1): Show | a0001c0001t0001g0059a0001c0001t0001g0205a0001c0001t0001g0222others(3): Show | 6 | 252 | 0.0238 | 5 | c.355 others(24): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105790674 | A | ATCTAT | intron_variant | MODIFIER | HG01978.hp1 HG02083.hp2 NA19060.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0009others(2): Show | a0001c0001t0002g0056a0001c0001t0005g0248a0001c0001t0009g0055others(2): Show | 5 | 252 | 0.0198 | 5 | c.251 others(22): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 2/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105829267 | C | CAAACA | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00558.hp1 others(120): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0007others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(43): Show | a0001c0001t0001g0009a0001c0001t0001g0017a0001c0001t0001g0033others(120): Show | 123 | 252 | 0.4881 | 5 | c.251 others(24): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 2/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105835149 | G | GTTTTT | intron_variant | MODIFIER | HG00741.hp1 HG01109.hp2 HG01175.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0015others(6): Show | a0001c0001t0002g0239a0001c0001t0002g0245a0001c0001t0006g0168others(7): Show | 10 | 252 | 0.0397 | 5 | c.250 others(24): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 2/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105875627 | A | ACCCCC | intron_variant | MODIFIER | HG01496.hp2 HG01981.hp1 HG02135.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0005a0001c0001t0001g0009a0001c0001t0001g0017others(23): Show | 26 | 252 | 0.1032 | 5 | c.250 others(20): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 2/11 | chr7 | TogoVar | ||||||
ATXN7_chr3_63858867_64008462 | 63863937 | A | AGCCGC | 5_prime_UTR_variant | MODIFIER | HG01257.hp2 HG01258.hp1 HG01261.hp2 |
a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0001a0001c0001t0021g0070 | 3 | 300 | 0.0100 | 5 | c.-31 others(14): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 1/13 | 48641 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||
ATXN7_chr3_63858867_64008462 | 63893822 | G | GTAGCA | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(111): Show |
a0001a0002a0006others(4): Show | a0001c0001a0002c0003a0006c0010others(6): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(28): Show | a0001c0001t0001g0005a0001c0001t0001g0021a0001c0001t0001g0026others(110): Show | 114 | 300 | 0.3800 | 5 | c.-11 others(24): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATXN7_chr3_63858867_64008462 | 63952835 | C | CTTTTT | intron_variant | MODIFIER | HG00423.hp1 HG02055.hp1 HG02056.hp2 others(11): Show |
a0001a0002a0004others(4): Show | a0001c0001a0002c0002a0002c0003others(5): Show | a0001c0001t0002a0002c0002t0002a0002c0002t0008others(7): Show | a0001c0001t0002g0225a0002c0002t0002g0068a0002c0002t0002g0270others(11): Show | 14 | 300 | 0.0467 | 5 | c.499 others(20): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
AUNIP_chr1_25829006_25864457 | 25851726 | C | CTCTTA | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp1 HG00639.hp2 others(78): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(12): Show | a0001c0001t0002g0010a0001c0001t0002g0045a0001c0001t0002g0046others(65): Show | 81 | 352 | 0.2301 | 5 | c.78+ others(20): Show |
AUNIP | ENSG00000127423.11 | transcript | ENST00000374298.4 | protein_coding | 1/2 | chr1 | TogoVar | ||||||
AURKB_chr17_8199734_8215575 | 8208632 | A | ATAAAT | intron_variant | MODIFIER | HG00423.hp1 HG01123.hp1 HG01928.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013a0001c0001t0001g0049a0001c0001t0001g0050 | 10 | 428 | 0.0234 | 5 | c.49- others(18): Show |
AURKB | ENSG00000178999.13 | transcript | ENST00000585124.6 | protein_coding | 2/8 | chr17 | TogoVar | ||||||
AURKC_chr19_57226023_57240548 | 57233734 | T | TTTTTC | intron_variant | MODIFIER | HG02055.hp1 HG02258.hp1 HG02559.hp2 others(4): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0017a0001c0001t0001g0044a0001c0005t0001g0024others(1): Show | 7 | 410 | 0.0171 | 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 | 57239584 | A | AGAGAG | downstream_gene_variant | MODIFIER | HG02257.hp2 HG02818.hp2 NA19240.hp2 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0011 | 3 | 410 | 0.0073 | 5 | c.*41 others(16): Show |
AURKC | ENSG00000105146.14 | transcript | ENST00000302804.12 | protein_coding | 4037 | chr19 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 69636480 | G | GCCCCC | intron_variant | MODIFIER | HG01934.hp2 HG02055.hp1 HG02630.hp2 others(4): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0011a0001c0001t0028a0001c0001t0034others(4): Show | a0001c0001t0011g0041a0001c0001t0028g0021a0001c0001t0034g0018others(4): Show | 7 | 76 | 0.0921 | 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 | 69671486 | G | GTGTGT | intron_variant | MODIFIER | HG01884.hp2 NA18612.hp1 NA19030.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0010 | a0001c0001t0002g0052a0001c0001t0002g0062a0001c0001t0004g0056others(1): Show | 4 | 76 | 0.0526 | 5 | c.309 others(24): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 69821916 | C | CAAAAA | intron_variant | MODIFIER | HG02055.hp2 HG02886.hp2 HG03540.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0009a0001c0003t0027a0002c0002t0031 | a0001c0001t0009g0006a0001c0001t0009g0008a0001c0003t0027g0009others(1): Show | 4 | 76 | 0.0526 | 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 | 69876349 | A | ATATAT | intron_variant | MODIFIER | HG02717.hp1 HG03041.hp1 NA19240.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0001t0004a0001c0005t0030 | a0001c0001t0002g0062a0001c0001t0004g0054a0001c0005t0030g0013 | 3 | 76 | 0.0395 | 5 | c.310 others(24): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70011314 | T | TCTCTC | intron_variant | MODIFIER | HG00597.hp1 HG00597.hp2 HG01081.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0030a0001c0001t0001g0036a0001c0001t0001g0037others(9): Show | 12 | 76 | 0.1579 | 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 | 70053544 | G | GTTTTT | intron_variant | MODIFIER | HG00741.hp1 HG01081.hp1 HG01433.hp1 others(13): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(7): Show | a0001c0001t0001g0030a0001c0001t0001g0033a0001c0001t0001g0036others(13): Show | 16 | 76 | 0.2105 | 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 | 70224331 | G | GTACAA | intron_variant | MODIFIER | HG00280.hp2 HG02717.hp1 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0021 | a0001c0001t0002g0047a0001c0001t0004g0054a0001c0001t0021g0060 | 3 | 76 | 0.0395 | 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 | 70338833 | C | CTTTAT | intron_variant | MODIFIER | HG01952.hp2 HG02165.hp2 HG02630.hp1 others(3): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0001g0030a0001c0001t0003g0031a0001c0001t0005g0005others(3): Show | 6 | 76 | 0.0790 | 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 | 70413665 | C | CTTGTT | intron_variant | MODIFIER | HG01081.hp2 HG01175.hp2 HG01952.hp2 others(17): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(13): Show | a0001c0001t0001g0030a0001c0001t0001g0033a0001c0001t0003g0031others(17): Show | 20 | 76 | 0.2632 | 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 | 70616753 | G | GTTTTT | intron_variant | MODIFIER | HG01081.hp1 HG01175.hp2 HG01433.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(1): Show | a0001c0001t0001g0033a0001c0001t0001g0036a0001c0001t0003g0031others(3): Show | 6 | 76 | 0.0790 | 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 | 70626246 | A | AGGTGT | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG01081.hp1 others(24): Show |
a0001a0002 | a0001c0001a0001c0008a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0033a0001c0001t0001g0036a0001c0001t0001g0037others(24): Show | 27 | 76 | 0.3553 | 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 | 70639616 | C | CAAAAA | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG02622.hp2 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(6): Show | a0001c0001t0003g0061a0001c0001t0003g0066a0001c0001t0004g0051others(10): Show | 13 | 76 | 0.1711 | 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 | 70684550 | G | GTGGCA | intron_variant | MODIFIER | HG02257.hp2 HG02258.hp2 HG02647.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0074a0001c0001t0002g0062a0001c0001t0004g0054others(4): Show | 7 | 76 | 0.0921 | 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 | 70716636 | C | CAAAAA | intron_variant | MODIFIER | HG00597.hp2 HG01884.hp2 HG01934.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0010others(2): Show | a0001c0001t0002g0045a0001c0001t0004g0042a0001c0001t0004g0048others(3): Show | 6 | 76 | 0.0790 | 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 | 70731420 | C | CTTTTT | intron_variant | MODIFIER | HG00597.hp1 HG00597.hp2 HG01243.hp1 others(4): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(4): Show | a0001c0001t0001g0071a0001c0001t0002g0045a0001c0001t0008g0063others(4): Show | 7 | 76 | 0.0921 | 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 | 70739003 | C | CTTTTT | intron_variant | MODIFIER | HG01934.hp1 HG03017.hp2 HG03704.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0004a0001c0001t0005a0003c0006t0003 | a0001c0001t0004g0042a0001c0001t0005g0020a0001c0001t0005g0028others(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 | 70747800 | C | CTTTAT | intron_variant | MODIFIER | HG00280.hp1 HG00597.hp1 HG00741.hp2 others(35): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0026a0001c0001t0001g0033a0001c0001t0001g0044others(35): Show | 38 | 76 | 0.5000 | 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 | 70758910 | G | GCCTAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(58): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0005others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0030a0001c0001t0001g0033a0001c0001t0001g0036others(58): Show | 61 | 76 | 0.8026 | 5 | c.743 others(22): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AVEN_chr15_33861227_34044204 | 33891208 | T | TTTATA | intron_variant | MODIFIER | HG01069.hp2 HG01192.hp2 HG02602.hp1 |
a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0001a0003c0003t0003g0013a0003c0003t0003g0014 | 3 | 266 | 0.0113 | 5 | c.446 others(24): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | ||||||
AVEN_chr15_33861227_34044204 | 33966655 | A | AAGATG | intron_variant | MODIFIER | HG00140.hp2 HG00544.hp2 HG01070.hp2 others(77): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0049a0001c0001t0001g0096a0001c0001t0001g0113others(77): Show | 80 | 266 | 0.3008 | 5 | c.445 others(24): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | ||||||
AVEN_chr15_33861227_34044204 | 33966664 | T | TGAGAC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(180): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0012a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0023a0001c0001t0001g0027a0001c0001t0001g0028others(180): Show | 183 | 266 | 0.6880 | 5 | c.445 others(24): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | ||||||
AVEN_chr15_33861227_34044204 | 33968099 | T | TAAAAA | intron_variant | MODIFIER | HG00323.hp2 HG00738.hp2 HG01070.hp1 others(21): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(4): Show | a0001c0001t0001g0023a0001c0001t0001g0035a0001c0001t0001g0036others(21): Show | 24 | 266 | 0.0902 | 5 | c.445 others(24): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | ||||||
AVEN_chr15_33861227_34044204 | 34001715 | C | CAAGCT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(250): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0012a0002c0002others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0023a0001c0001t0001g0027a0001c0001t0001g0028others(250): Show | 253 | 266 | 0.9511 | 5 | c.445 others(22): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | ||||||
AVEN_chr15_33861227_34044204 | 34017484 | G | GTTTTT | intron_variant | MODIFIER | HG02145.hp2 HG02572.hp1 HG03139.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0136a0001c0001t0001g0198a0001c0001t0001g0199others(2): Show | 5 | 266 | 0.0188 | 5 | c.268 others(24): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 1/5 | chr15 | TogoVar | ||||||
AVEN_chr15_33861227_34044204 | 34031168 | A | ATTTTT | intron_variant | MODIFIER | HG01978.hp2 HG02970.hp1 HG03453.hp1 others(6): Show |
a0001a0002a0009 | a0001c0001a0002c0002a0009c0010 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0135a0001c0001t0001g0154a0001c0001t0001g0189others(6): Show | 9 | 266 | 0.0338 | 5 | c.267 others(22): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 1/5 | chr15 | TogoVar | ||||||
AVL9_chr7_32490489_32593726 | 32502392 | C | CAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00423.hp2 others(104): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(46): Show | a0001c0001t0001g0048a0001c0001t0001g0176a0001c0001t0001g0177others(104): Show | 107 | 330 | 0.3242 | 5 | c.93+ others(20): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AVL9_chr7_32490489_32593726 | 32503560 | G | GAAAAA | intron_variant | MODIFIER | HG02027.hp1 HG02071.hp2 HG02572.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0006a0001c0002t0011a0001c0002t0015others(3): Show | a0001c0002t0006g0103a0001c0002t0006g0105a0001c0002t0011g0060others(4): Show | 7 | 330 | 0.0212 | 5 | c.93+ others(20): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AVL9_chr7_32490489_32593726 | 32557853 | C | CTTTTT | intron_variant | MODIFIER | HG00408.hp2 HG00738.hp1 HG01074.hp2 others(34): Show |
a0001a0002 | a0001c0004a0002c0003a0002c0012 | a0001c0004t0021a0001c0004t0031a0001c0004t0040others(17): Show | a0001c0004t0021g0157a0001c0004t0021g0160a0001c0004t0021g0325others(34): Show | 37 | 330 | 0.1121 | 5 | c.610 others(20): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AVL9_chr7_32490489_32593726 | 32572801 | C | CAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00621.hp1 HG00642.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0013others(5): Show | a0001c0001t0001g0206a0001c0001t0001g0207a0001c0001t0007g0221others(7): Show | 10 | 330 | 0.0303 | 5 | c.135 others(22): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AVL9_chr7_32490489_32593726 | 32575089 | T | TTTTTG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(181): Show |
a0001a0004 | a0001c0001a0001c0006a0001c0009others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(83): Show | a0001c0001t0001g0012a0001c0001t0001g0048a0001c0001t0001g0176others(181): Show | 184 | 330 | 0.5576 | 5 | c.157 others(22): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AVPI1_chr10_97672424_97692241 | 97672725 | C | CTTTTT | downstream_gene_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG02559.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0037a0001c0001t0001g0171a0001c0001t0001g0259others(4): Show | 8 | 446 | 0.0179 | 5 | c.*51 others(16): Show |
AVPI1 | ENSG00000119986.7 | transcript | ENST00000370626.4 | protein_coding | 4698 | chr10 | TogoVar | ||||||
AVPR1B_chr1_206101936_206122388 | 206122048 | T | TGTGTG | upstream_gene_variant | MODIFIER | HG00558.hp1 HG01175.hp1 NA18612.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0001a0001c0001t0006g0006 | 4 | 396 | 0.0101 | 5 | c.-51 others(16): Show |
AVPR1B | ENSG00000198049.7 | transcript | ENST00000367126.5 | protein_coding | 4661 | chr1 | TogoVar |