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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP9A_chr20_51591514_51773390 | 51634855 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00438.hp2 others(75): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0026a0001c0001t0001g0030a0001c0001t0001g0031others(75): Show | 78 | 312 | 0.2500 | 9 | c.166 others(28): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 15/27 | chr20 | TogoVar | ||||||
ATP9A_chr20_51591514_51773390 | 51641831 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00423.hp1 others(130): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0006others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(48): Show | a0001c0001t0001g0026a0001c0001t0001g0027a0001c0001t0001g0030others(130): Show | 133 | 312 | 0.4263 | 9 | c.150 others(28): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 14/27 | chr20 | TogoVar | ||||||
ATP9A_chr20_51591514_51773390 | 51682577 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG00544.hp2 others(23): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0026a0001c0001t0001g0273a0001c0001t0001g0282others(23): Show | 26 | 312 | 0.0833 | 9 | c.800 others(26): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 9/27 | chr20 | TogoVar | ||||||
ATP9A_chr20_51591514_51773390 | 51687774 | A | ATGAATGA others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00642.hp1 others(30): Show |
a0001 | a0001c0001a0001c0002a0001c0014 | a0001c0001t0012a0001c0001t0013a0001c0001t0064others(15): Show | a0001c0001t0012g0080a0001c0001t0012g0132a0001c0001t0012g0206others(30): Show | 33 | 312 | 0.1058 | 9 | c.799 others(26): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 9/27 | chr20 | TogoVar | ||||||
ATP9A_chr20_51591514_51773390 | 51743396 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00735.hp2 HG01243.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0012a0001c0001t0013a0001c0002t0002others(12): Show | a0001c0001t0012g0206a0001c0001t0013g0001a0001c0002t0002g0161others(13): Show | 16 | 312 | 0.0513 | 9 | c.69- others(26): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 1/27 | chr20 | TogoVar | ||||||
ATP9A_chr20_51591514_51773390 | 51765642 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00738.hp1 HG01106.hp1 others(46): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(30): Show | a0001c0001t0001g0015a0001c0001t0001g0026a0001c0001t0001g0027others(46): Show | 49 | 312 | 0.1571 | 9 | c.68+ others(24): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 1/27 | chr20 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79071049 | C | CTTTTTTC others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01069.hp1 HG01071.hp1 others(10): Show |
a0001a0004 | a0001c0006a0001c0038a0001c0039others(2): Show | a0001c0006t0003a0001c0006t0004a0001c0038t0001others(3): Show | a0001c0006t0003g0267a0001c0006t0003g0268a0001c0006t0004g0273others(9): Show | 13 | 298 | 0.0436 | 9 | c.119 others(26): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79086435 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02559.hp2 HG02738.hp1 others(8): Show |
a0001a0012 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0003t0003a0001c0003t0011others(2): Show | a0001c0001t0001g0116a0001c0001t0001g0118a0001c0003t0003g0121others(8): Show | 11 | 298 | 0.0369 | 9 | c.120 others(28): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79334401 | T | TAGTTTGG others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00544.hp1 HG00609.hp2 others(114): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0003a0001c0010others(13): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(17): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(114): Show | 117 | 298 | 0.3926 | 9 | c.202 others(28): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 17/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ATPAF1_chr1_46627737_46673364 | 46654528 | T | TTTATTAT others(2): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00639.hp1 HG00639.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0012a0001c0001t0002g0047a0001c0001t0002g0048others(9): Show | 20 | 412 | 0.0485 | 9 | c.490 others(24): Show |
ATPAF1 | ENSG00000123472.13 | transcript | ENST00000574428.6 | protein_coding | 4/8 | chr1 | TogoVar | ||||||
ATPAF2_chr17_18013021_18044168 | 18019186 | C | CACACACA others(2): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01934.hp2 NA19068.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113a0001c0001t0001g0144a0001c0001t0001g0167others(1): Show | 4 | 328 | 0.0122 | 9 | c.733 others(24): Show |
ATPAF2 | ENSG00000171953.16 | transcript | ENST00000474627.8 | protein_coding | 7/7 | chr17 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115403257 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00639.hp2 HG02717.hp1 HG02723.hp2 others(3): Show |
a0001 | a0001c0005a0001c0007 | a0001c0005t0007a0001c0005t0018a0001c0005t0021others(3): Show | a0001c0005t0007g0009a0001c0005t0018g0003a0001c0005t0021g0007others(3): Show | 6 | 128 | 0.0469 | 9 | c.326 others(28): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 20/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115448854 | C | CCAACAAC others(2): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02572.hp2 HG03195.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0015 | a0001c0001t0008a0001c0001t0014a0001c0001t0043others(2): Show | a0001c0001t0008g0014a0001c0001t0014g0001a0001c0001t0043g0094others(2): Show | 5 | 128 | 0.0391 | 9 | c.332 others(30): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 21/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115521138 | T | TTTGTTGT others(2): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02258.hp2 HG02572.hp2 others(10): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(4): Show | a0001c0001t0008a0001c0001t0016a0001c0001t0017others(10): Show | a0001c0001t0008g0030a0001c0001t0016g0031a0001c0001t0017g0028others(10): Show | 13 | 128 | 0.1016 | 9 | c.371 others(28): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 25/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115637603 | C | CTATTATT others(2): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01081.hp2 HG01123.hp2 others(27): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0065a0001c0001t0001g0069a0001c0001t0001g0085others(27): Show | 30 | 128 | 0.2344 | 9 | c.379 others(30): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 26/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115682669 | T | TATGGTGA others(2): Show |
intron_variant | MODIFIER | HG00735.hp2 HG00738.hp2 HG01891.hp1 others(9): Show |
a0001 | a0001c0001a0001c0005a0001c0010 | a0001c0001t0002a0001c0001t0008a0001c0001t0011others(7): Show | a0001c0001t0002g0111a0001c0001t0002g0113a0001c0001t0002g0114others(9): Show | 12 | 128 | 0.0938 | 9 | c.379 others(30): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 26/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115713705 | C | CTATCTAT others(2): Show |
intron_variant | MODIFIER | HG02818.hp2 NA18522.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0003t0041 | a0001c0001t0003g0061a0001c0003t0041g0047 | 2 | 128 | 0.0156 | 9 | c.379 others(30): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 26/28 | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115717548 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00735.hp1 HG00741.hp2 HG01081.hp2 others(22): Show |
a0001 | a0001c0001a0001c0003a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0036a0001c0001t0001g0055a0001c0001t0001g0065others(22): Show | 25 | 128 | 0.1953 | 9 | c.379 others(28): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 26/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115738126 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00738.hp2 HG02896.hp1 HG02897.hp2 others(1): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0020a0001c0005t0007 | a0001c0001t0020g0115a0001c0005t0007g0002a0001c0005t0007g0004others(1): Show | 4 | 128 | 0.0313 | 9 | c.390 others(30): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 27/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115802046 | A | ACACACAC others(2): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02818.hp2 HG03453.hp2 |
a0001 | a0001c0001a0001c0015 | a0001c0001t0003a0001c0001t0007a0001c0015t0034 | a0001c0001t0003g0061a0001c0001t0007g0027a0001c0015t0034g0110 | 3 | 128 | 0.0234 | 9 | c.390 others(30): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 27/28 | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115856428 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01361.hp2 HG02572.hp2 HG02630.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(6): Show | a0001c0001t0001g0091a0001c0001t0006g0109a0001c0001t0007g0027others(6): Show | 9 | 128 | 0.0703 | 9 | c.401 others(28): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 28/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRN_chr20_3466018_3656118 | 3484909 | A | AATTATTA others(2): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01891.hp1 HG02145.hp2 others(3): Show |
a0001a0009 | a0001c0003a0001c0005a0001c0006others(2): Show | a0001c0003t0002a0001c0005t0007a0001c0006t0003others(2): Show | a0001c0003t0002g0214a0001c0005t0007g0213a0001c0006t0003g0211others(3): Show | 6 | 220 | 0.0273 | 9 | c.410 others(28): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ATRX_chrX_77499880_77791216 | 77530633 | C | CAAACAAA others(2): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0083 | 1 | 218 | 0.0046 | 9 | c.670 others(28): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 30/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77585583 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01496.hp1 HG03492.hp1 others(1): Show |
a0002a0003 | a0002c0002a0002c0004a0003c0006 | a0002c0002t0001a0002c0004t0001a0003c0006t0001 | a0002c0002t0001g0013a0002c0002t0001g0024a0002c0004t0001g0023others(1): Show | 4 | 218 | 0.0184 | 9 | c.621 others(28): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 27/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77651217 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01167.hp1 HG02015.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0195a0001c0001t0002g0158a0001c0001t0002g0178others(6): Show | 9 | 218 | 0.0413 | 9 | c.455 others(26): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 15/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77671165 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0081 | 1 | 218 | 0.0046 | 9 | c.380 others(28): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 10/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77671167 | A | AAAAAAAT others(2): Show |
intron_variant | MODIFIER | HG01257.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0141 | 1 | 218 | 0.0046 | 9 | c.380 others(28): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 10/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77671167 | A | AAAAATAT others(2): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01934.hp1 NA19240.hp2 |
a0001a0002 | a0001c0001a0002c0002a0002c0004 | a0001c0001t0005a0002c0002t0001a0002c0004t0001 | a0001c0001t0005g0135a0002c0002t0001g0140a0002c0004t0001g0055 | 3 | 218 | 0.0138 | 9 | c.380 others(28): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 10/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77671167 | A | AAATATAT others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 NA20752.hp1 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0117a0002c0002t0002g0048 | 2 | 218 | 0.0092 | 9 | c.380 others(28): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 10/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77671167 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG02602.hp1 HG04184.hp2 NA18969.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0002 | a0001c0001t0003g0163a0001c0001t0003g0164a0002c0002t0002g0110 | 3 | 218 | 0.0138 | 9 | c.380 others(28): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 10/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77716110 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00597.hp1 NA19079.hp1 NA19080.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0169a0001c0001t0002g0215a0001c0001t0004g0122 | 3 | 218 | 0.0138 | 9 | c.133 others(26): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 2/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77716323 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0057 | 1 | 218 | 0.0046 | 9 | c.133 others(24): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 2/34 | chrX | TogoVar | ||||||
ATXN10_chr22_45666834_45850307 | 45734869 | A | ATATTATT others(2): Show |
intron_variant | MODIFIER | HG01433.hp1 HG01884.hp1 HG01884.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0071a0001c0001t0001g0077a0001c0001t0001g0079others(13): Show | 16 | 316 | 0.0506 | 9 | c.895 others(26): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
ATXN1_chr6_16294112_16766460 | 16316865 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00438.hp1 HG02258.hp1 HG02258.hp2 others(6): Show |
a0001a0003a0004others(5): Show | a0001c0028a0003c0003a0004c0005others(6): Show | a0001c0028t0015a0003c0003t0009a0004c0005t0002others(6): Show | a0001c0028t0015g0017a0003c0003t0009g0055a0004c0005t0002g0167others(6): Show | 9 | 182 | 0.0495 | 9 | c.191 others(28): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 7/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16327684 | A | ATGCTGAT others(2): Show |
disruptive_inframe_insertion | MODERATE | HG00140.hp2 HG01070.hp1 HG02451.hp2 |
a0019a0031 | a0019c0026a0031c0048 | a0019c0026t0001a0019c0026t0019a0031c0048t0042 | a0019c0026t0001g0098a0019c0026t0019g0001a0031c0048t0042g0026 | 3 | 182 | 0.0165 | 9 | c.626 others(16): Show |
p.Gln others(22): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 7/8 | 1518/10557 | 626/2448 | 209/815 | chr6 | TogoVar | ||
ATXN1_chr6_16294112_16766460 | 16368343 | C | CTTCTTTT others(2): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02486.hp2 HG02809.hp2 others(3): Show |
a0002a0006a0007 | a0002c0002a0006c0008a0007c0009 | a0002c0002t0003a0002c0002t0010a0006c0008t0040others(1): Show | a0002c0002t0003g0007a0002c0002t0003g0061a0002c0002t0003g0133others(3): Show | 6 | 182 | 0.0330 | 9 | c.-16 others(30): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16390680 | T | TACACACA others(2): Show |
intron_variant | MODIFIER | HG01169.hp2 HG02630.hp2 HG03139.hp1 others(1): Show |
a0007a0021a0032 | a0007c0009a0021c0021a0032c0045 | a0007c0009t0002a0007c0009t0035a0021c0021t0014others(1): Show | a0007c0009t0002g0028a0007c0009t0035g0018a0021c0021t0014g0082others(1): Show | 4 | 182 | 0.0220 | 9 | c.-16 others(30): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16491258 | A | AATTATTA others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00642.hp1 HG00735.hp2 others(20): Show |
a0001a0002a0003others(11): Show | a0001c0001a0002c0002a0002c0004others(12): Show | a0001c0001t0001a0001c0001t0005a0002c0002t0008others(17): Show | a0001c0001t0001g0178a0001c0001t0005g0085a0002c0002t0008g0116others(20): Show | 23 | 182 | 0.1264 | 9 | c.-29 others(28): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 5/7 | chr6 | TogoVar | ||||||
ATXN2_chr12_111447214_111604315 | 111493418 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02486.hp1 HG02809.hp2 others(7): Show |
a0003a0007a0008others(1): Show | a0003c0004a0007c0015a0008c0023others(1): Show | a0003c0004t0003a0003c0004t0005a0003c0004t0008others(3): Show | a0003c0004t0003g0089a0003c0004t0003g0103a0003c0004t0003g0106others(7): Show | 10 | 298 | 0.0336 | 9 | c.193 others(28): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | TogoVar | ||||||
ATXN2_chr12_111447214_111604315 | 111553600 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02055.hp2 HG02559.hp1 others(2): Show |
a0003 | a0003c0004 | a0003c0004t0003a0003c0004t0005 | a0003c0004t0003g0093a0003c0004t0003g0095a0003c0004t0003g0102others(2): Show | 5 | 298 | 0.0168 | 9 | c.348 others(24): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | TogoVar | ||||||
ATXN2_chr12_111447214_111604315 | 111576132 | T | TAACATAA others(2): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02809.hp2 HG02976.hp1 others(1): Show |
a0003a0013 | a0003c0004a0013c0021 | a0003c0004t0003a0003c0004t0005a0013c0021t0003 | a0003c0004t0003g0093a0003c0004t0003g0111a0003c0004t0005g0087others(1): Show | 4 | 298 | 0.0134 | 9 | c.252 others(28): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | TogoVar | ||||||
ATXN2_chr12_111447214_111604315 | 111592782 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01433.hp1 HG01952.hp1 HG02074.hp1 others(10): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0003 | a0002c0002t0001g0013a0002c0002t0001g0028a0002c0002t0001g0029others(10): Show | 13 | 298 | 0.0436 | 9 | c.251 others(26): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | TogoVar | ||||||
ATXN3_chr14_92053552_92111582 | 92076939 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00544.hp2 HG02056.hp1 HG02080.hp2 others(26): Show |
a0003a0006a0008others(10): Show | a0003c0003a0006c0005a0006c0051others(11): Show | a0003c0003t0001a0003c0003t0002a0003c0003t0004others(21): Show | a0003c0003t0001g0077a0003c0003t0002g0099a0003c0003t0004g0040others(25): Show | 29 | 402 | 0.0721 | 9 | c.872 others(26): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 9/10 | chr14 | TogoVar | ||||||
ATXN3_chr14_92053552_92111582 | 92086253 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00544.hp2 others(19): Show |
a0003a0006a0008others(9): Show | a0003c0003a0006c0005a0008c0008others(9): Show | a0003c0003t0001a0003c0003t0004a0006c0005t0001others(16): Show | a0003c0003t0001g0077a0003c0003t0004g0040a0003c0003t0004g0081others(19): Show | 22 | 402 | 0.0547 | 9 | c.475 others(26): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 6/10 | chr14 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105619140 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00642.hp2 HG00738.hp2 others(45): Show |
a0001 | a0001c0001a0001c0006a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0005a0001c0001t0001g0059a0001c0001t0001g0185others(45): Show | 48 | 252 | 0.1905 | 9 | c.151 others(28): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 9/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105619531 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG01099.hp2 HG02132.hp1 NA18957.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0061 | a0001c0001t0001g0074a0001c0001t0001g0106a0001c0001t0061g0036 | 3 | 252 | 0.0119 | 9 | c.151 others(26): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 9/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105641214 | C | CTCTTTTT others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01069.hp1 HG02148.hp2 others(6): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0013 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0078a0001c0001t0003g0030a0001c0001t0003g0150others(6): Show | 9 | 252 | 0.0357 | 9 | c.862 others(26): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 5/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105685044 | G | GATAATAA others(2): Show |
intron_variant | MODIFIER | HG02027.hp2 HG02965.hp1 HG03239.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0009a0001c0001t0018a0001c0001t0044others(1): Show | a0001c0001t0009g0013a0001c0001t0018g0046a0001c0001t0044g0110others(1): Show | 4 | 252 | 0.0159 | 9 | c.356 others(28): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105727767 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG02723.hp2 HG02818.hp1 HG03942.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0015a0001c0001t0046others(1): Show | a0001c0001t0001g0181a0001c0001t0015g0019a0001c0001t0046g0138others(1): Show | 4 | 252 | 0.0159 | 9 | c.355 others(28): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105771201 | G | GATAATAA others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00558.hp1 others(22): Show |
a0001a0002 | a0001c0001a0001c0012a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0145a0001c0001t0001g0185a0001c0001t0002g0167others(22): Show | 25 | 252 | 0.0992 | 9 | c.355 others(28): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar |