view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATRNL1_chr10_115088365_115953999 | 115837466 | CCACACA | C | intron_variant | MODIFIER | HG02055.hp2 HG03540.hp2 NA18522.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0008a0001c0003t0041 | a0001c0001t0008g0013 a0001c0001t0008g0084 a0001c0003t0041g0045 |
3 | 7 | 0.4286 | -6 | c.390 others(27): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 27/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115869964 | CTTTTTT | C | intron_variant | MODIFIER | HG03209.hp1 HG03453.hp1 HG03579.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0010 | a0001c0001t0011a0001c0003t0015a0001c0003t0047others(1): Show | a0001c0001t0011g0114 a0001c0003t0015g0124 a0001c0003t0047g0128 others(1): Show |
4 | 56 | 0.0714 | -6 | c.401 others(27): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 28/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115871469 | TTGTGTG | T | intron_variant | MODIFIER | HG00735.hp1 HG00741.hp2 HG01123.hp1 others(13): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0001g0074 others(13): Show |
16 | 31 | 0.5161 | -6 | c.401 others(27): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 28/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115950298 | CCATTCT | C | downstream_gene_variant | MODIFIER | HG02280.hp2 HG02622.hp2 HG02717.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0008a0001c0001t0025others(1): Show | a0001c0001t0002g0115 a0001c0001t0008g0023 a0001c0001t0025g0020 others(1): Show |
4 | 126 | 0.0317 | -6 | c.*55 others(17): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 1300 | chr10 | TogoVar | |||||||
ATRN_chr20_3466018_3656118 | 3484909 | AATTATT | A | intron_variant | MODIFIER | HG01081.hp1 HG01257.hp1 HG01884.hp2 others(21): Show |
a0001a0002a0007others(1): Show | a0001c0002a0001c0005a0001c0013others(5): Show | a0001c0002t0025a0001c0005t0007a0001c0013t0008others(11): Show | a0001c0002t0025g0090 a0001c0005t0007g0191 a0001c0013t0008g0171 others(21): Show |
24 | 126 | 0.1905 | -6 | c.410 others(25): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ATRN_chr20_3466018_3656118 | 3492875 | GCACACA | G | intron_variant | MODIFIER | HG02615.hp1 HG02630.hp1 HG02976.hp1 others(2): Show |
a0004 | a0004c0011a0004c0016 | a0004c0011t0004a0004c0011t0008a0004c0016t0013others(1): Show | a0004c0011t0004g0165 a0004c0011t0008g0168 a0004c0011t0008g0173 others(2): Show |
5 | 184 | 0.0272 | -6 | c.410 others(25): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ATRN_chr20_3466018_3656118 | 3504688 | GATAATA | G | intron_variant | MODIFIER | HG00621.hp2 HG00639.hp1 HG00733.hp1 others(48): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(28): Show | a0001c0001t0001g0021 a0001c0001t0001g0027 a0001c0001t0001g0057 others(48): Show |
51 | 107 | 0.4766 | -6 | c.411 others(25): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ATRN_chr20_3466018_3656118 | 3506057 | GACACAT | G | intron_variant | MODIFIER | HG01243.hp2 HG01496.hp1 HG01891.hp1 others(11): Show |
a0001a0006a0008 | a0001c0001a0001c0003a0001c0005others(5): Show | a0001c0001t0001a0001c0003t0002a0001c0003t0031others(7): Show | a0001c0001t0001g0163 a0001c0003t0002g0214 a0001c0003t0002g0215 others(11): Show |
14 | 205 | 0.0683 | -6 | c.411 others(25): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ATRN_chr20_3466018_3656118 | 3531797 | AAACAAC | A | intron_variant | MODIFIER | HG01884.hp2 HG02109.hp2 HG02451.hp2 others(14): Show |
a0002a0007a0014 | a0002c0004a0002c0012a0007c0009others(1): Show | a0002c0004t0004a0002c0004t0011a0002c0004t0016others(5): Show | a0002c0004t0004g0153 a0002c0004t0004g0154 a0002c0004t0004g0157 others(14): Show |
17 | 216 | 0.0787 | -6 | c.411 others(23): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ATRN_chr20_3466018_3656118 | 3535588 | TACACAC | T | intron_variant | MODIFIER | HG01261.hp1 HG02257.hp1 HG03209.hp1 others(7): Show |
a0001a0011 | a0001c0001a0001c0002a0011c0028 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0039 a0001c0001t0001g0108 a0001c0001t0002g0040 others(7): Show |
10 | 66 | 0.1515 | -6 | c.494 others(21): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ATRN_chr20_3466018_3656118 | 3542628 | TCCCTTC | T | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp1 HG00733.hp2 others(53): Show |
a0001a0002a0003others(5): Show | a0001c0003a0001c0005a0001c0006others(12): Show | a0001c0003t0002a0001c0003t0005a0001c0003t0007others(27): Show | a0001c0003t0002g0214 a0001c0003t0002g0215 a0001c0003t0002g0216 others(53): Show |
56 | 218 | 0.2569 | -6 | c.608 others(23): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 3/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ATRN_chr20_3466018_3656118 | 3630916 | CTTTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00738.hp2 HG00741.hp1 others(21): Show |
a0001a0002a0007 | a0001c0002a0001c0006a0001c0007others(2): Show | a0001c0002t0003a0001c0002t0004a0001c0002t0006others(7): Show | a0001c0002t0003g0038 a0001c0002t0003g0045 a0001c0002t0003g0062 others(21): Show |
24 | 29 | 0.8276 | -6 | c.386 others(25): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 25/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77561426 | AAGTATT | A | intron_variant | MODIFIER | HG01243.hp1 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0015 | a0001c0001t0008g0076 a0001c0001t0015g0081 |
2 | 216 | 0.0093 | -6 | c.632 others(25): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 28/34 | chrX | TogoVar | |||||||
ATRX_chrX_77499880_77791216 | 77563702 | CGTGTGT | C | intron_variant | MODIFIER | HG00280.hp1 HG01106.hp1 HG01257.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0001g0155 |
3 | 78 | 0.0385 | -6 | c.632 others(25): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 28/34 | chrX | TogoVar | |||||||
ATRX_chrX_77499880_77791216 | 77626028 | CATATAT | C | intron_variant | MODIFIER | HG00597.hp2 HG00609.hp1 HG00621.hp1 others(18): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0124 a0001c0001t0001g0152 a0001c0001t0001g0197 others(18): Show |
21 | 42 | 0.5000 | -6 | c.513 others(25): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 19/34 | chrX | TogoVar | |||||||
ATRX_chrX_77499880_77791216 | 77659482 | TACACAC | T | intron_variant | MODIFIER | HG00558.hp1 HG02055.hp1 HG02280.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(1): Show | a0001c0001t0002g0140 a0001c0001t0004g0190 a0001c0001t0004g0194 others(5): Show |
8 | 91 | 0.0879 | -6 | c.412 others(25): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 12/34 | chrX | TogoVar | |||||||
ATRX_chrX_77499880_77791216 | 77667295 | ATGTGTG | A | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00558.hp1 others(74): Show |
a0001a0002a0003 | a0001c0001a0001c0009a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0084 a0001c0001t0001g0197 a0001c0001t0002g0157 others(74): Show |
77 | 91 | 0.8462 | -6 | c.381 others(25): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 10/34 | chrX | TogoVar | |||||||
ATRX_chrX_77499880_77791216 | 77692846 | AGTGTGT | A | intron_variant | MODIFIER | HG02895.hp1 HG03209.hp1 HG03471.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0065 a0001c0001t0007g0066 a0001c0001t0007g0067 others(1): Show |
4 | 32 | 0.1250 | -6 | c.484 others(21): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 6/34 | chrX | TogoVar | |||||||
ATRX_chrX_77499880_77791216 | 77708664 | AAAAAAT | A | intron_variant | MODIFIER | HG00558.hp2 HG00597.hp1 HG00609.hp1 others(50): Show |
a0001a0004 | a0001c0001a0001c0012a0004c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0117 a0001c0001t0001g0124 a0001c0001t0001g0132 others(50): Show |
53 | 216 | 0.2454 | -6 | c.133 others(23): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 2/34 | chrX | TogoVar | |||||||
ATRX_chrX_77499880_77791216 | 77716110 | ATTTTTT | A | intron_variant | MODIFIER | HG02559.hp2 HG02615.hp2 HG02809.hp2 others(2): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0005a0001c0001t0007a0001c0005t0005 | a0001c0001t0005g0068 a0001c0001t0007g0067 a0001c0001t0007g0069 others(2): Show |
5 | 82 | 0.0610 | -6 | c.133 others(23): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 2/34 | chrX | TogoVar | |||||||
ATRX_chrX_77499880_77791216 | 77786905 | TACACAC | T | upstream_gene_variant | MODIFIER | HG01952.hp1 HG01975.hp2 HG02055.hp1 others(15): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0198 a0001c0001t0002g0199 a0001c0001t0003g0201 others(15): Show |
18 | 58 | 0.3103 | -6 | c.-91 others(15): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 690 | chrX | TogoVar | |||||||
ATRX_chrX_77499880_77791216 | 77790932 | GTGTATA | G | upstream_gene_variant | MODIFIER | HG02258.hp1 HG02922.hp1 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0199 a0001c0001t0003g0201 a0001c0001t0003g0202 |
3 | 98 | 0.0306 | -6 | c.-49 others(17): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 4717 | chrX | TogoVar | |||||||
ATRX_chrX_77499880_77791216 | 77790934 | GTATATA | G | upstream_gene_variant | MODIFIER | HG00738.hp1 HG03453.hp1 NA19030.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0005a0001c0003t0001 | a0001c0001t0005g0145 a0001c0003t0001g0103 a0001c0003t0001g0168 others(1): Show |
4 | 127 | 0.0315 | -6 | c.-49 others(17): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 4719 | chrX | TogoVar | |||||||
ATR_chr3_142444235_142583733 | 142472085 | TTGTGTG | T | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG00735.hp2 others(37): Show |
a0001a0002a0003others(1): Show | a0001c0004a0001c0006a0002c0002others(2): Show | a0001c0004t0001a0001c0006t0001a0002c0002t0001others(2): Show | a0001c0004t0001g0154 a0001c0004t0001g0314 a0001c0004t0001g0315 others(36): Show |
40 | 131 | 0.3053 | -6 | c.622 others(25): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 36/46 | chr3 | TogoVar | |||||||
ATR_chr3_142444235_142583733 | 142496278 | CTATATA | C | intron_variant | MODIFIER | HG01346.hp1 NA18944.hp2 NA19007.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0229 a0002c0002t0001g0248 a0002c0002t0001g0271 |
3 | 24 | 0.1250 | -6 | c.589 others(21): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 34/46 | chr3 | TogoVar | |||||||
ATXN10_chr22_45666834_45850307 | 45667946 | GATATAT | G | upstream_gene_variant | MODIFIER | HG01099.hp2 HG01109.hp2 HG01243.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(2): Show | a0001c0001t0001g0031 a0001c0001t0001g0070 a0001c0001t0001g0079 others(24): Show |
27 | 60 | 0.4500 | -6 | c.-41 others(17): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 3887 | chr22 | TogoVar | |||||||
ATXN10_chr22_45666834_45850307 | 45740679 | TACACAC | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp1 others(144): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0053 a0001c0001t0001g0068 others(143): Show |
147 | 193 | 0.7617 | -6 | c.117 others(23): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
ATXN10_chr22_45666834_45850307 | 45753377 | CTTTTTT | C | intron_variant | MODIFIER | HG00558.hp2 HG00597.hp1 HG01515.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0015 others(9): Show |
12 | 16 | 0.7500 | -6 | c.117 others(27): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
ATXN10_chr22_45666834_45850307 | 45827129 | CCACACA | C | intron_variant | MODIFIER | HG00741.hp2 HG02129.hp1 HG02717.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006 | a0001c0001t0001g0049 a0001c0001t0001g0079 a0001c0001t0001g0160 others(4): Show |
7 | 50 | 0.1400 | -6 | c.123 others(27): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16308322 | TCACACA | T | intron_variant | MODIFIER | HG00735.hp1 HG01074.hp1 HG01109.hp1 others(27): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0008a0001c0010others(12): Show | a0001c0001t0010a0001c0001t0011a0001c0008t0010others(21): Show | a0001c0001t0010g0128 a0001c0001t0011g0131 a0001c0008t0010g0038 others(27): Show |
30 | 55 | 0.5455 | -6 | c.191 others(25): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 7/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16327672 | CTGCTGA | C | disruptive_inframe_deletion | MODERATE | HG01109.hp2 HG01243.hp1 HG02630.hp2 others(6): Show |
a0002a0004a0005 | a0002c0004a0002c0039a0004c0037others(1): Show | a0002c0004t0002a0002c0004t0035a0002c0004t0049others(3): Show | a0002c0004t0002g0028 a0002c0004t0002g0056 a0002c0004t0002g0126 others(6): Show |
9 | 180 | 0.0500 | -6 | c.633 others(13): Show |
p.His others(13): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 7/8 | 1530/10557 | 633/2448 | 211/815 | chr6 | TogoVar | |||
ATXN1_chr6_16294112_16766460 | 16484947 | ATGTGTG | A | intron_variant | MODIFIER | HG02257.hp2 HG02723.hp2 NA18522.hp2 |
a0001a0002a0003 | a0001c0008a0002c0003a0003c0002 | a0001c0008t0002a0002c0003t0001a0003c0002t0010 | a0001c0008t0002g0013 a0002c0003t0001g0039 a0003c0002t0010g0015 |
3 | 145 | 0.0207 | -6 | c.-16 others(25): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16544535 | CTCTGAG | C | intron_variant | MODIFIER | HG02965.hp1 NA18906.hp2 |
a0001a0002 | a0001c0012a0002c0003 | a0001c0012t0006a0002c0003t0009 | a0001c0012t0006g0112 a0002c0003t0009g0055 |
2 | 180 | 0.0111 | -6 | c.-36 others(27): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 4/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16577772 | GCTCACT | G | intron_variant | MODIFIER | HG01255.hp2 HG02257.hp1 HG02451.hp1 others(19): Show |
a0001a0002a0003others(2): Show | a0001c0008a0001c0012a0001c0020others(9): Show | a0001c0008t0002a0001c0008t0040a0001c0012t0006others(16): Show | a0001c0008t0002g0137 a0001c0008t0040g0154 a0001c0012t0006g0112 others(19): Show |
22 | 180 | 0.1222 | -6 | c.-36 others(25): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 4/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16581195 | CTGTGTG | C | intron_variant | MODIFIER | HG03041.hp2 HG06807.hp1 |
a0001a0002 | a0001c0008a0002c0003 | a0001c0008t0047a0002c0003t0031 | a0001c0008t0047g0060 a0002c0003t0031g0058 |
2 | 111 | 0.0180 | -6 | c.-36 others(25): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 4/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16581220 | TGTGTGC | T | intron_variant | MODIFIER | HG01074.hp1 HG01109.hp2 HG02896.hp2 others(1): Show |
a0001a0002a0003 | a0001c0010a0002c0004a0002c0031others(1): Show | a0001c0010t0024a0002c0004t0002a0002c0031t0010others(1): Show | a0001c0010t0024g0048 a0002c0004t0002g0164 a0002c0031t0010g0173 others(1): Show |
4 | 180 | 0.0222 | -6 | c.-36 others(25): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 4/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16584243 | TACACAC | T | intron_variant | MODIFIER | HG00642.hp2 HG01261.hp2 HG01361.hp1 others(2): Show |
a0001a0002a0003 | a0001c0012a0002c0011a0003c0002 | a0001c0012t0039a0002c0011t0001a0002c0011t0042others(2): Show | a0001c0012t0039g0041 a0002c0011t0001g0034 a0002c0011t0042g0026 others(2): Show |
5 | 145 | 0.0345 | -6 | c.-36 others(25): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 4/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16593858 | CATATAT | C | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp2 HG02258.hp1 others(4): Show |
a0001a0002a0003 | a0001c0012a0001c0020a0002c0004others(3): Show | a0001c0012t0006a0001c0020t0015a0002c0004t0003others(3): Show | a0001c0012t0006g0113 a0001c0020t0015g0017 a0002c0004t0003g0051 others(4): Show |
7 | 15 | 0.4667 | -6 | c.-48 others(25): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 3/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16620262 | AACACAC | A | intron_variant | MODIFIER | HG00642.hp2 HG01070.hp1 HG01070.hp2 others(4): Show |
a0001a0002a0005 | a0001c0010a0001c0033a0002c0003others(4): Show | a0001c0010t0004a0001c0033t0001a0002c0003t0013others(4): Show | a0001c0010t0004g0161 a0001c0033t0001g0012 a0002c0003t0013g0033 others(4): Show |
7 | 110 | 0.0636 | -6 | c.-48 others(27): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 3/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16624354 | GAAAAAA | G | intron_variant | MODIFIER | HG01070.hp1 HG01168.hp1 HG01169.hp1 others(2): Show |
a0001a0002a0005 | a0001c0001a0002c0003a0005c0007 | a0001c0001t0001a0001c0001t0044a0002c0003t0001others(1): Show | a0001c0001t0001g0083 a0001c0001t0001g0108 a0001c0001t0044g0118 others(2): Show |
5 | 81 | 0.0617 | -6 | c.-48 others(27): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 3/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16687657 | TACACAC | T | intron_variant | MODIFIER | HG00423.hp1 HG00597.hp2 HG00609.hp1 others(47): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0008a0001c0010others(21): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0020others(38): Show | a0001c0001t0001g0043 a0001c0001t0001g0103 a0001c0001t0010g0128 others(47): Show |
50 | 59 | 0.8475 | -6 | c.-61 others(27): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16692656 | CAACAAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00438.hp2 others(36): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0010a0001c0019others(17): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0029others(25): Show | a0001c0001t0001g0045 a0001c0001t0001g0123 a0001c0001t0001g0159 others(36): Show |
39 | 180 | 0.2167 | -6 | c.-61 others(27): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16714173 | ACCACAC | A | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(112): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0008a0001c0010others(34): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(70): Show | a0001c0001t0001g0037 a0001c0001t0001g0043 a0001c0001t0001g0045 others(112): Show |
115 | 180 | 0.6389 | -6 | c.-61 others(27): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16714181 | CCACACA | C | intron_variant | MODIFIER | HG01169.hp2 HG01261.hp2 HG02257.hp2 others(1): Show |
a0001a0002a0003 | a0001c0010a0001c0012a0002c0003others(1): Show | a0001c0010t0014a0001c0012t0006a0002c0003t0001others(1): Show | a0001c0010t0014g0082 a0001c0012t0006g0008 a0002c0003t0001g0039 others(1): Show |
4 | 132 | 0.0303 | -6 | c.-61 others(27): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16745933 | CGTGTGT | C | intron_variant | MODIFIER | HG00408.hp2 HG00597.hp2 HG00609.hp2 others(8): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0012a0002c0003others(5): Show | a0001c0001t0001a0001c0012t0006a0002c0003t0001others(7): Show | a0001c0001t0001g0123 a0001c0012t0006g0112 a0001c0012t0006g0113 others(8): Show |
11 | 28 | 0.3929 | -6 | c.-61 others(25): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16747750 | ATCTTTC | A | intron_variant | MODIFIER | HG02965.hp2 HG06807.hp2 NA18522.hp2 |
a0001a0003a0004 | a0001c0012a0003c0002a0004c0037 | a0001c0012t0006a0003c0002t0010a0004c0037t0001 | a0001c0012t0006g0014 a0003c0002t0010g0015 a0004c0037t0001g0016 |
3 | 180 | 0.0167 | -6 | c.-61 others(25): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | |||||||
ATXN2L_chr16_28817999_28842232 | 28822934 | GGCCCCC | G | upstream_gene_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01106.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0020 others(4): Show |
13 | 304 | 0.0428 | -6 | c.-32 others(15): Show |
ATXN2L | ENSG00000168488.19 | transcript | ENST00000336783.9 | protein_coding | 64 | chr16 | TogoVar | |||||||
ATXN2L_chr16_28817999_28842232 | 28828735 | GTTTGTT | G | intron_variant | MODIFIER | NA18947.hp2 NA18977.hp1 NA18981.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 6 | 380 | 0.0158 | -6 | c.742 others(21): Show |
ATXN2L | ENSG00000168488.19 | transcript | ENST00000336783.9 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ATXN2_chr12_111447214_111604315 | 111465767 | CAAAAAA | C | intron_variant | MODIFIER | NA18612.hp2 NA18948.hp2 NA18964.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0034 a0002c0002t0001g0049 a0002c0002t0001g0055 others(3): Show |
6 | 89 | 0.0674 | -6 | c.284 others(25): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111483188 | AACACAT | A | intron_variant | MODIFIER | HG00544.hp2 HG01071.hp1 HG01123.hp1 others(62): Show |
a0001a0002a0003others(3): Show | a0001c0003a0002c0002a0002c0016others(5): Show | a0001c0003t0001a0002c0002t0001a0002c0002t0003others(8): Show | a0001c0003t0001g0144 a0001c0003t0001g0148 a0001c0003t0001g0206 others(62): Show |
65 | 256 | 0.2539 | -6 | c.252 others(25): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | TogoVar |