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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATRNL1_chr10_115088365_115953999 | 115351742 | G | GTGTTTTG others(13): Show |
intron_variant | MODIFIER | HG00735.hp1 HG00741.hp1 HG01071.hp1 others(23): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0003a0001c0001t0008a0001c0002t0001others(10): Show | a0001c0001t0003g0061a0001c0001t0003g0093a0001c0001t0008g0082others(23): Show | 26 | 128 | 0.2031 | 20 | c.317 others(41): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 19/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115374453 | T | TTTCCTTC others(13): Show |
intron_variant | MODIFIER | HG03139.hp1 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0019a0001c0001t0024 | a0001c0001t0019g0020a0001c0001t0024g0024 | 2 | 128 | 0.0156 | 20 | c.317 others(41): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 19/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115381432 | A | ATTTTTTT others(13): Show |
intron_variant | MODIFIER | HG02055.hp1 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0033a0001c0001t0010g0034 | 2 | 128 | 0.0156 | 20 | c.317 others(41): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 19/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115389534 | G | GTATGTAT others(13): Show |
intron_variant | MODIFIER | HG01258.hp1 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0009a0001c0006t0009 | a0001c0001t0009g0122a0001c0006t0009g0038 | 2 | 128 | 0.0156 | 20 | c.317 others(39): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 19/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115389538 | G | GTATATAT others(13): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0081 | 1 | 128 | 0.0078 | 20 | c.317 others(39): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 19/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115389552 | A | ATATGTAT others(13): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0014 | 1 | 128 | 0.0078 | 20 | c.317 others(39): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 19/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115442297 | C | CTCTCTCT others(13): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0019 | 1 | 128 | 0.0078 | 20 | c.332 others(41): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 21/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115442303 | C | CTCTCTCT others(13): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01361.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0005 | a0001c0001t0003g0093a0001c0002t0005g0057 | 2 | 128 | 0.0156 | 20 | c.332 others(41): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 21/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115442303 | C | CTCTCTCT others(13): Show |
intron_variant | MODIFIER | HG00738.hp1 HG03834.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0028 | a0001c0002t0001g0041a0001c0002t0028g0076 | 2 | 128 | 0.0156 | 20 | c.332 others(41): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 21/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115442303 | C | CTCTCTCT others(13): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0062 | 1 | 128 | 0.0078 | 20 | c.332 others(41): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 21/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115528037 | T | TCTTCCTT others(13): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02809.hp1 NA19240.hp2 |
a0002 | a0002c0004 | a0002c0004t0002a0002c0004t0006a0002c0004t0007 | a0002c0004t0002g0012a0002c0004t0006g0084a0002c0004t0007g0011 | 3 | 128 | 0.0234 | 20 | c.371 others(39): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 25/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115561672 | T | TGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0024 | 1 | 128 | 0.0078 | 20 | c.379 others(41): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 26/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115598348 | A | AATTTATT others(13): Show |
intron_variant | MODIFIER | HG00735.hp2 HG02280.hp2 HG02572.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0008a0001c0001t0011others(4): Show | a0001c0001t0002g0114a0001c0001t0008g0023a0001c0001t0011g0112others(4): Show | 7 | 128 | 0.0547 | 20 | c.379 others(41): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 26/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115598350 | A | ATTATTTA others(13): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0032 | 1 | 128 | 0.0078 | 20 | c.379 others(41): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 26/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115621276 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0064 | 1 | 128 | 0.0078 | 20 | c.379 others(41): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 26/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115621276 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0022 | 1 | 128 | 0.0078 | 20 | c.379 others(41): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 26/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115632864 | T | TTTTTATT others(13): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02145.hp2 HG02559.hp1 others(3): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0001t0003a0001c0001t0013others(3): Show | a0001c0001t0002g0015a0001c0001t0003g0061a0001c0001t0013g0019others(3): Show | 6 | 128 | 0.0469 | 20 | c.379 others(41): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 26/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115713449 | G | GTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0007 | a0001c0007t0027 | a0001c0007t0027g0006 | 1 | 128 | 0.0078 | 20 | c.379 others(41): 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(13): Show |
intron_variant | MODIFIER | HG00738.hp2 HG02572.hp1 |
a0001 | a0001c0001 | a0001c0001t0020a0001c0001t0048 | a0001c0001t0020g0115a0001c0001t0048g0107 | 2 | 128 | 0.0156 | 20 | c.379 others(41): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 26/28 | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115713705 | C | CTATCTAT others(13): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0071 | 1 | 128 | 0.0078 | 20 | c.379 others(41): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 26/28 | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115723534 | G | GTATTTAT others(13): Show |
intron_variant | MODIFIER | HG01952.hp1 HG02300.hp1 HG02559.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0065a0001c0001t0001g0105a0001c0001t0002g0015others(4): Show | 7 | 128 | 0.0547 | 20 | c.379 others(39): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 26/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115729495 | T | TTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0032 | 1 | 128 | 0.0078 | 20 | c.390 others(39): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 27/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115738154 | T | TTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG01943.hp2 NA19070.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0070a0001c0001t0003g0074 | 2 | 128 | 0.0156 | 20 | c.390 others(41): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 27/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115802021 | A | AACACACA others(13): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02717.hp1 |
a0001 | a0001c0003a0001c0007 | a0001c0003t0014a0001c0007t0027 | a0001c0003t0014g0089a0001c0007t0027g0006 | 2 | 128 | 0.0156 | 20 | c.390 others(41): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 27/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115856428 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG01943.hp2 HG02280.hp2 HG02523.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(5): Show | a0001c0001t0001g0105a0001c0001t0003g0074a0001c0001t0006g0100others(5): Show | 8 | 128 | 0.0625 | 20 | c.401 others(39): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 28/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRN_chr20_3466018_3656118 | 3576695 | G | GTCTATCT others(13): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0003 | a0003c0008 | a0003c0008t0005 | a0003c0008t0005g0198 | 1 | 220 | 0.0046 | 20 | c.221 others(37): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 13/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ATRN_chr20_3466018_3656118 | 3576695 | G | GTCTGTCT others(13): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01081.hp2 HG01109.hp2 others(18): Show |
a0001a0016 | a0001c0001a0001c0002a0001c0013others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(10): Show | a0001c0001t0001g0003a0001c0001t0001g0014a0001c0001t0001g0042others(18): Show | 21 | 220 | 0.0955 | 20 | c.221 others(37): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 13/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ATRN_chr20_3466018_3656118 | 3576695 | G | GTCTGTCT others(13): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01070.hp1 HG01071.hp1 others(7): Show |
a0001a0004a0006 | a0001c0001a0004c0011a0006c0010 | a0001c0001t0002a0001c0001t0005a0004c0011t0004others(2): Show | a0001c0001t0002g0040a0001c0001t0002g0060a0001c0001t0005g0015others(7): Show | 10 | 220 | 0.0455 | 20 | c.221 others(37): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 13/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ATRN_chr20_3466018_3656118 | 3576695 | G | GTCTGTCT others(13): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0017 | 1 | 220 | 0.0046 | 20 | c.221 others(37): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 13/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ATRN_chr20_3466018_3656118 | 3597071 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00621.hp2 HG00639.hp2 others(49): Show |
a0001a0007a0012 | a0001c0001a0001c0002a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(17): Show | a0001c0001t0001g0003a0001c0001t0001g0016a0001c0001t0001g0027others(49): Show | 52 | 220 | 0.2364 | 20 | c.346 others(37): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 21/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ATRX_chrX_77499880_77791216 | 77585583 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0011 | 1 | 218 | 0.0046 | 20 | c.621 others(39): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 27/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77790934 | G | GTATATAT others(13): Show |
upstream_gene_variant | MODIFIER | NA19084.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0099 | 1 | 218 | 0.0046 | 20 | c.-49 others(31): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 4719 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77790990 | C | CTATAAAT others(13): Show |
upstream_gene_variant | MODIFIER | HG01256.hp1 HG01496.hp1 HG01928.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004 | a0001c0001t0011a0002c0002t0001a0002c0002t0002others(2): Show | a0001c0001t0011g0001a0002c0002t0001g0041a0002c0002t0002g0047others(5): Show | 8 | 218 | 0.0367 | 20 | c.-49 others(31): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 4775 | chrX | TogoVar | ||||||
ATR_chr3_142444235_142583733 | 142496278 | C | CATTATAT others(13): Show |
intron_variant | MODIFIER | NA19085.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 322 | 0.0031 | 20 | c.589 others(35): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 34/46 | chr3 | TogoVar | ||||||
ATXN10_chr22_45666834_45850307 | 45751763 | A | AAAAAAAA others(13): Show |
intron_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0113 | 1 | 316 | 0.0032 | 20 | c.117 others(41): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
ATXN10_chr22_45666834_45850307 | 45751763 | A | AAAAATAA others(13): Show |
intron_variant | MODIFIER | HG02602.hp1 NA19074.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0115a0001c0001t0002g0248 | 2 | 316 | 0.0063 | 20 | c.117 others(41): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
ATXN10_chr22_45666834_45850307 | 45751763 | A | AATAATAA others(13): Show |
intron_variant | MODIFIER | NA18978.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0120 | 1 | 316 | 0.0032 | 20 | c.117 others(41): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
ATXN10_chr22_45666834_45850307 | 45795354 | G | GATTCTAT others(13): Show |
intron_variant | MODIFIER | NA18957.hp2 NA18989.hp2 NA19081.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0152a0001c0001t0001g0307a0001c0001t0002g0107 | 3 | 316 | 0.0095 | 20 | c.117 others(41): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
ATXN10_chr22_45666834_45850307 | 45795415 | A | ATTCTATT others(13): Show |
intron_variant | MODIFIER | HG03831.hp2 NA18998.hp2 NA19074.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0093a0001c0001t0002g0104a0001c0001t0002g0115 | 3 | 316 | 0.0095 | 20 | c.117 others(41): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
ATXN10_chr22_45666834_45850307 | 45819192 | A | AAATAGAA others(13): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02647.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067a0001c0001t0001g0068 | 2 | 316 | 0.0063 | 20 | c.123 others(41): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
ATXN1_chr6_16294112_16766460 | 16407039 | G | GAACAAGC others(13): Show |
intron_variant | MODIFIER | NA18955.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0089 | 1 | 182 | 0.0055 | 20 | c.-16 others(41): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16504993 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG01243.hp1 HG03453.hp2 |
a0002a0030 | a0002c0004a0030c0058 | a0002c0004t0001a0030c0058t0018 | a0002c0004t0001g0182a0030c0058t0018g0054 | 2 | 182 | 0.0110 | 20 | c.-29 others(41): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 5/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16526064 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02886.hp2 HG03209.hp2 others(4): Show |
a0002a0004a0005others(3): Show | a0002c0002a0004c0005a0005c0006others(3): Show | a0002c0002t0003a0004c0005t0002a0005c0006t0006others(3): Show | a0002c0002t0003g0007a0002c0002t0003g0133a0004c0005t0002g0072others(4): Show | 7 | 182 | 0.0385 | 20 | c.-36 others(39): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 4/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16526064 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0005 | a0005c0006 | a0005c0006t0009 | a0005c0006t0009g0163 | 1 | 182 | 0.0055 | 20 | c.-36 others(39): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 4/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16562451 | A | AAAAGGAA others(13): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00735.hp1 HG01074.hp1 others(13): Show |
a0001a0003a0006others(9): Show | a0001c0001a0001c0027a0001c0052others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0027t0001others(13): Show | a0001c0001t0001g0045a0001c0001t0002g0076a0001c0027t0001g0024others(13): Show | 16 | 182 | 0.0879 | 20 | c.-36 others(41): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 4/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16562453 | A | AAGGAAAG others(13): Show |
intron_variant | MODIFIER | HG02895.hp2 HG03225.hp2 NA18986.hp2 others(1): Show |
a0001a0026a0037 | a0001c0001a0026c0061a0037c0032 | a0001c0001t0002a0026c0061t0036a0037c0032t0002 | a0001c0001t0002g0020a0001c0001t0002g0077a0026c0061t0036g0095others(1): Show | 4 | 182 | 0.0220 | 20 | c.-36 others(41): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 4/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16562453 | A | AAGGAAAG others(13): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0006 | a0006c0008 | a0006c0008t0046 | a0006c0008t0046g0062 | 1 | 182 | 0.0055 | 20 | c.-36 others(41): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 4/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16562453 | A | AAGGAAAG others(13): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0007 | a0007c0009 | a0007c0009t0002 | a0007c0009t0002g0164 | 1 | 182 | 0.0055 | 20 | c.-36 others(41): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 4/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16584223 | C | CATATATA others(13): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00609.hp1 HG01257.hp1 others(10): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0002c0004others(6): Show | a0001c0001t0001a0002c0002t0003a0002c0002t0043others(8): Show | a0001c0001t0001g0043a0001c0001t0001g0158a0001c0001t0001g0178others(10): Show | 13 | 182 | 0.0714 | 20 | c.-36 others(39): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 4/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16584243 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0008 | a0008c0024 | a0008c0024t0001 | a0008c0024t0001g0074 | 1 | 182 | 0.0055 | 20 | c.-36 others(39): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 4/7 | chr6 | TogoVar |