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 | 115774425 | CAAAAA | C | intron_variant | MODIFIER | HG00738.hp1 HG01071.hp2 HG01258.hp2 others(34): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0053 a0001c0001t0001g0066 a0001c0001t0001g0068 others(34): Show |
37 | 42 | 0.8810 | -5 | c.390 others(26): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 27/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115828322 | AAAAAG | A | intron_variant | MODIFIER | HG02280.hp1 HG02572.hp2 HG02630.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0006a0001c0007others(2): Show | a0001c0001t0007a0001c0001t0008a0001c0006t0013others(3): Show | a0001c0001t0007g0027 a0001c0001t0008g0013 a0001c0006t0013g0029 others(3): Show |
6 | 121 | 0.0496 | -5 | c.390 others(26): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 27/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115839514 | CCAATA | C | intron_variant | MODIFIER | HG00735.hp2 HG00738.hp2 HG02622.hp2 others(3): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0001t0019a0001c0001t0020others(2): Show | a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0019g0019 others(3): Show |
6 | 126 | 0.0476 | -5 | c.390 others(24): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 27/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115952722 | ATACTT | A | downstream_gene_variant | MODIFIER | HG01109.hp1 HG01891.hp1 HG02145.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0008 | a0001c0001t0002a0001c0001t0008a0001c0001t0010others(7): Show | a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0008g0023 others(8): Show |
11 | 126 | 0.0873 | -5 | c.*79 others(16): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 3724 | chr10 | TogoVar | |||||||
ATRN_chr20_3466018_3656118 | 3486380 | TTTTCC | T | intron_variant | MODIFIER | HG00140.hp2 HG00733.hp2 HG00735.hp1 others(45): Show |
a0001a0002a0007others(4): Show | a0001c0003a0001c0005a0001c0006others(9): Show | a0001c0003t0002a0001c0003t0005a0001c0003t0007others(22): Show | a0001c0003t0002g0214 a0001c0003t0002g0215 a0001c0003t0002g0216 others(45): Show |
48 | 218 | 0.2202 | -5 | c.410 others(24): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ATRN_chr20_3466018_3656118 | 3519737 | TGAAAA | T | intron_variant | MODIFIER | HG00741.hp1 HG01109.hp1 HG01243.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0018 a0001c0002t0006g0049 a0001c0002t0006g0050 others(3): Show |
6 | 218 | 0.0275 | -5 | c.411 others(24): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ATRN_chr20_3466018_3656118 | 3528712 | CTAAAA | C | intron_variant | MODIFIER | HG00140.hp2 HG00733.hp2 HG00735.hp1 others(45): Show |
a0001a0002a0007others(4): Show | a0001c0003a0001c0005a0001c0006others(9): Show | a0001c0003t0002a0001c0003t0005a0001c0003t0007others(22): Show | a0001c0003t0002g0214 a0001c0003t0002g0215 a0001c0003t0002g0216 others(45): Show |
48 | 218 | 0.2202 | -5 | c.411 others(22): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ATRN_chr20_3466018_3656118 | 3565796 | CAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(160): Show |
a0001a0004a0005others(7): Show | a0001c0001a0001c0002a0001c0007others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(44): Show | a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0016 others(160): Show |
163 | 175 | 0.9314 | -5 | c.187 others(22): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 11/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ATRN_chr20_3466018_3656118 | 3596712 | AACTTT | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(164): Show |
a0001a0004a0005others(7): Show | a0001c0001a0001c0002a0001c0007others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(45): Show | a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0014 others(164): Show |
167 | 218 | 0.7661 | -5 | c.346 others(22): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 21/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ATRN_chr20_3466018_3656118 | 3620219 | AGTTTT | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(43): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0005a0001c0001t0015a0001c0001t0023others(20): Show | a0001c0001t0005g0056 a0001c0001t0005g0064 a0001c0001t0005g0068 others(43): Show |
46 | 106 | 0.4340 | -5 | c.380 others(24): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 24/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ATRN_chr20_3466018_3656118 | 3626397 | TAAAAA | T | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00738.hp2 others(106): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0003others(18): Show | a0001c0001t0010a0001c0001t0012a0001c0001t0014others(44): Show | a0001c0001t0010g0011 a0001c0001t0010g0025 a0001c0001t0010g0096 others(106): Show |
109 | 218 | 0.5000 | -5 | c.386 others(24): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 25/28 | chr20 | TogoVar | |||||||
ATRN_chr20_3466018_3656118 | 3630916 | CTTTTT | C | intron_variant | MODIFIER | HG01081.hp2 HG01099.hp1 HG01169.hp2 others(8): Show |
a0001a0002a0008others(1): Show | a0001c0002a0001c0013a0002c0004others(2): Show | a0001c0002t0003a0001c0002t0004a0001c0013t0017others(4): Show | a0001c0002t0003g0036 a0001c0002t0003g0063 a0001c0002t0003g0084 others(8): Show |
11 | 16 | 0.6875 | -5 | c.386 others(24): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 25/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77549955 | AAAATG | A | intron_variant | MODIFIER | HG02602.hp1 HG02965.hp1 HG03239.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0083 a0001c0001t0003g0086 a0001c0001t0003g0161 others(3): Show |
6 | 210 | 0.0286 | -5 | c.669 others(24): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 30/34 | chrX | TogoVar | |||||||
ATRX_chrX_77499880_77791216 | 77651217 | CAAAAA | C | intron_variant | MODIFIER | HG02129.hp1 HG02559.hp2 HG02572.hp1 others(10): Show |
a0001 | a0001c0001a0001c0005a0001c0007 | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(2): Show | a0001c0001t0002g0122 a0001c0001t0002g0187 a0001c0001t0005g0068 others(10): Show |
13 | 29 | 0.4483 | -5 | c.455 others(22): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 15/34 | chrX | TogoVar | |||||||
ATRX_chrX_77499880_77791216 | 77762346 | TAGAAG | T | intron_variant | MODIFIER | HG00558.hp1 HG02015.hp1 NA18962.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0013 | a0001c0001t0002g0140 a0001c0001t0002g0187 a0001c0001t0004g0185 others(4): Show |
7 | 216 | 0.0324 | -5 | c.20+ others(22): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 1/34 | chrX | TogoVar | |||||||
ATR_chr3_142444235_142583733 | 142496278 | CTATAT | C | intron_variant | MODIFIER | HG00738.hp2 HG01074.hp1 HG01255.hp1 others(6): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0001a0003c0003t0001 | a0001c0001t0001g0089 a0001c0001t0001g0112 a0001c0001t0001g0115 others(6): Show |
9 | 30 | 0.3000 | -5 | c.589 others(20): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 34/46 | chr3 | TogoVar | |||||||
ATR_chr3_142444235_142583733 | 142531234 | GTTTTA | G | intron_variant | MODIFIER | HG00673.hp1 HG00738.hp2 HG00741.hp1 others(38): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0028 a0001c0001t0001g0087 others(37): Show |
41 | 310 | 0.1323 | -5 | c.394 others(24): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 21/46 | chr3 | TogoVar | |||||||
ATXN10_chr22_45666834_45850307 | 45685772 | CATATT | C | intron_variant | MODIFIER | HG02717.hp1 HG02976.hp1 HG03209.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 others(1): Show |
4 | 314 | 0.0127 | -5 | c.117 others(22): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
ATXN10_chr22_45666834_45850307 | 45735812 | CTTTTT | C | intron_variant | MODIFIER | HG01099.hp2 HG01109.hp2 HG01243.hp1 others(34): Show |
a0001a0003 | a0001c0001a0003c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 others(34): Show |
37 | 105 | 0.3524 | -5 | c.895 others(22): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
ATXN10_chr22_45666834_45850307 | 45753377 | CTTTTT | C | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00741.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013 | a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0010 others(13): Show |
16 | 20 | 0.8000 | -5 | c.117 others(26): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
ATXN10_chr22_45666834_45850307 | 45795354 | GATTCT | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00423.hp1 others(56): Show |
a0001a0003 | a0001c0001a0003c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0010 others(56): Show |
59 | 179 | 0.3296 | -5 | c.117 others(26): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
ATXN10_chr22_45666834_45850307 | 45819192 | AAATAG | A | intron_variant | MODIFIER | HG00140.hp2 HG01070.hp1 HG01071.hp1 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0010 | a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 others(31): Show |
34 | 77 | 0.4416 | -5 | c.123 others(26): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
ATXN10_chr22_45666834_45850307 | 45837114 | CATATA | C | intron_variant | MODIFIER | HG02572.hp1 HG02818.hp1 HG03540.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009 | a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0134 others(3): Show |
6 | 314 | 0.0191 | -5 | c.123 others(24): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16357232 | TTTTTA | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00408.hp2 others(144): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0008a0001c0010others(32): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(83): Show | a0001c0001t0001g0037 a0001c0001t0001g0043 a0001c0001t0001g0045 others(144): Show |
147 | 180 | 0.8167 | -5 | c.-16 others(26): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16402242 | GTTTTT | G | intron_variant | MODIFIER | HG00735.hp1 HG01109.hp2 HG01261.hp2 others(3): Show |
a0001a0002a0003others(1): Show | a0001c0012a0002c0004a0003c0002others(3): Show | a0001c0012t0006a0002c0004t0002a0003c0002t0001others(3): Show | a0001c0012t0006g0008 a0002c0004t0002g0164 a0003c0002t0001g0071 others(3): Show |
6 | 8 | 0.7500 | -5 | c.-16 others(26): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16492543 | TAATAC | T | intron_variant | MODIFIER | HG03098.hp2 HG03453.hp2 |
a0002a0003 | a0002c0004a0003c0009 | a0002c0004t0002a0003c0009t0001 | a0002c0004t0002g0126 a0003c0009t0001g0182 |
2 | 180 | 0.0111 | -5 | c.-29 others(24): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 5/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16562453 | AAGGAG | A | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00438.hp1 others(47): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0010a0002c0003others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0010t0004others(30): Show | a0001c0001t0001g0043 a0001c0001t0001g0105 a0001c0001t0001g0123 others(47): Show |
50 | 124 | 0.4032 | -5 | c.-36 others(26): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 4/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16562483 | GAGGAA | G | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(57): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0010a0001c0012others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(31): Show | a0001c0001t0001g0037 a0001c0001t0001g0103 a0001c0001t0001g0178 others(57): Show |
60 | 180 | 0.3333 | -5 | c.-36 others(26): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 4/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16606177 | TAACTC | T | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(131): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0008a0001c0010others(30): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(71): Show | a0001c0001t0001g0037 a0001c0001t0001g0043 a0001c0001t0001g0045 others(131): Show |
134 | 180 | 0.7444 | -5 | c.-48 others(26): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 3/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16668808 | ATTTAC | A | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp2 HG02486.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0008a0002c0004others(2): Show | a0001c0001t0020a0001c0008t0040a0002c0004t0003others(2): Show | a0001c0001t0020g0002 a0001c0008t0040g0154 a0002c0004t0003g0070 others(2): Show |
5 | 180 | 0.0278 | -5 | c.-61 others(26): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16714188 | CACACA | C | intron_variant | MODIFIER | HG01243.hp2 HG02257.hp1 HG02280.hp2 others(9): Show |
a0001a0002a0003 | a0001c0012a0001c0019a0001c0033others(6): Show | a0001c0012t0048a0001c0019t0001a0001c0033t0001others(8): Show | a0001c0012t0048g0031 a0001c0019t0001g0024 a0001c0033t0001g0012 others(9): Show |
12 | 76 | 0.1579 | -5 | c.-61 others(26): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | |||||||
ATXN2L_chr16_28817999_28842232 | 28819391 | CTTTTT | C | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00423.hp1 others(80): Show |
a0001a0005a0008others(1): Show | a0001c0001a0001c0007a0001c0014others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0015 others(28): Show |
83 | 229 | 0.3624 | -5 | c.-38 others(16): Show |
ATXN2L | ENSG00000168488.19 | transcript | ENST00000336783.9 | protein_coding | 3607 | chr16 | TogoVar | |||||||
ATXN2L_chr16_28817999_28842232 | 28822934 | GGCCCC | G | upstream_gene_variant | MODIFIER | HG00639.hp1 HG01074.hp2 HG01192.hp1 others(15): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0009 | a0001c0001t0001a0001c0002t0001a0004c0009t0001 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0020 others(6): Show |
18 | 309 | 0.0583 | -5 | c.-32 others(14): Show |
ATXN2L | ENSG00000168488.19 | transcript | ENST00000336783.9 | protein_coding | 64 | chr16 | TogoVar | |||||||
ATXN2L_chr16_28817999_28842232 | 28840459 | CTTTTT | C | downstream_gene_variant | MODIFIER | HG00673.hp1 NA18961.hp2 NA18971.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0034 others(1): Show |
10 | 204 | 0.0490 | -5 | c.*41 others(16): Show |
ATXN2L | ENSG00000168488.19 | transcript | ENST00000336783.9 | protein_coding | 3228 | chr16 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111447547 | ATGGGG | A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00544.hp2 others(196): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0003a0001c0010others(20): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(27): Show | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0003g0029 others(196): Show |
199 | 295 | 0.6746 | -5 | c.*52 others(16): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 4666 | chr12 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111568991 | TTTTTG | T | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00544.hp2 others(234): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0003a0001c0007others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0002g0222 others(234): Show |
237 | 292 | 0.8116 | -5 | c.252 others(24): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111576085 | AATAAC | A | intron_variant | MODIFIER | HG01071.hp2 HG01081.hp2 HG01243.hp1 others(24): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0005 | a0001c0001t0002a0001c0003t0001a0003c0005t0001 | a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0222 others(24): Show |
27 | 275 | 0.0982 | -5 | c.252 others(24): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111584377 | CAAAAA | C | intron_variant | MODIFIER | HG00544.hp2 HG00597.hp1 HG01071.hp1 others(83): Show |
a0002a0003a0004others(3): Show | a0002c0002a0002c0016a0002c0017others(9): Show | a0002c0002t0001a0002c0002t0003a0002c0016t0001others(11): Show | a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0030 others(83): Show |
86 | 105 | 0.8190 | -5 | c.251 others(24): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | TogoVar | |||||||
ATXN3_chr14_92053552_92111582 | 92072694 | TAAAAA | T | intron_variant | MODIFIER | HG01109.hp1 HG01168.hp2 HG02055.hp1 others(9): Show |
a0003a0004a0006others(4): Show | a0003c0026a0004c0003a0006c0005others(5): Show | a0003c0026t0017a0004c0003t0001a0004c0003t0002others(8): Show | a0003c0026t0017g0379 a0004c0003t0001g0316 a0004c0003t0002g0082 others(9): Show |
12 | 169 | 0.0710 | -5 | c.873 others(22): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 9/10 | chr14 | TogoVar | |||||||
ATXN3_chr14_92053552_92111582 | 92085499 | GATTTT | G | intron_variant | MODIFIER | HG00323.hp2 HG01069.hp1 HG01167.hp1 others(22): Show |
a0007a0010a0012others(7): Show | a0007c0010a0010c0011a0012c0016others(8): Show | a0007c0010t0006a0007c0010t0014a0010c0011t0006others(14): Show | a0007c0010t0006g0374 a0007c0010t0014g0155 a0010c0011t0006g0279 others(22): Show |
25 | 400 | 0.0625 | -5 | c.476 others(22): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 6/10 | chr14 | TogoVar | |||||||
ATXN3_chr14_92053552_92111582 | 92099882 | AAAGAC | A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(109): Show |
a0002a0003a0004others(16): Show | a0002c0002a0002c0007a0003c0004others(23): Show | a0002c0002t0003a0002c0002t0050a0002c0002t0066others(40): Show | a0002c0002t0003g0011 a0002c0002t0003g0012 a0002c0002t0003g0347 others(102): Show |
112 | 400 | 0.2800 | -5 | c.25- others(20): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 1/10 | chr14 | TogoVar | |||||||
ATXN3_chr14_92053552_92111582 | 92109432 | CAAAAA | C | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00639.hp1 others(73): Show |
a0002a0003a0004others(19): Show | a0002c0002a0003c0004a0003c0026others(26): Show | a0002c0002t0050a0003c0004t0005a0003c0004t0074others(38): Show | a0002c0002t0050g0375 a0003c0004t0005g0001 a0003c0004t0005g0009 others(69): Show |
76 | 362 | 0.2099 | -5 | c.-28 others(16): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 2851 | chr14 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105601974 | TCTTTG | T | downstream_gene_variant | MODIFIER | HG01175.hp1 HG01243.hp1 HG01256.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0024a0001c0001t0025others(2): Show | a0001c0001t0013g0019 a0001c0001t0013g0060 a0001c0001t0013g0109 others(9): Show |
12 | 250 | 0.0480 | -5 | c.*58 others(16): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 2797 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105619530 | ATTTTT | A | intron_variant | MODIFIER | HG01109.hp2 HG02148.hp2 HG03130.hp1 others(2): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0008a0001c0001t0014a0001c0001t0022others(1): Show | a0001c0001t0008g0131 a0001c0001t0008g0230 a0001c0001t0014g0069 others(2): Show |
5 | 152 | 0.0329 | -5 | c.151 others(22): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 9/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105662082 | CTTTCT | C | intron_variant | MODIFIER | HG00323.hp1 HG02132.hp2 HG02135.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0043 a0001c0001t0001g0089 a0001c0001t0002g0185 others(2): Show |
5 | 245 | 0.0204 | -5 | c.578 others(22): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 4/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105722560 | TAAAAA | T | intron_variant | MODIFIER | HG00558.hp1 HG01261.hp2 HG01981.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0043 a0001c0001t0001g0057 a0001c0001t0001g0089 others(19): Show |
22 | 41 | 0.5366 | -5 | c.356 others(24): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105731748 | AAAAAG | A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00735.hp1 others(9): Show |
a0001a0004 | a0001c0001a0004c0013 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0243 a0001c0001t0002g0082 a0001c0001t0004g0084 others(9): Show |
12 | 63 | 0.1905 | -5 | c.355 others(24): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105787020 | GGCTCT | G | intron_variant | MODIFIER | HG02071.hp2 HG02135.hp2 HG02155.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0100 a0001c0001t0002g0185 a0001c0001t0003g0053 others(4): Show |
7 | 250 | 0.0280 | -5 | c.355 others(22): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105790638 | CTATCT | C | intron_variant | MODIFIER | HG01192.hp2 HG01943.hp2 HG01978.hp1 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0008a0001c0001t0014a0001c0007t0033 | a0001c0001t0008g0094 a0001c0001t0014g0175 a0001c0007t0033g0157 |
3 | 250 | 0.0120 | -5 | c.251 others(22): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 2/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105814576 | TTTTTG | T | intron_variant | MODIFIER | HG01074.hp1 HG01243.hp1 HG02145.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0015a0001c0001t0054 | a0001c0001t0013g0191 a0001c0001t0015g0192 a0001c0001t0015g0194 others(1): Show |
4 | 250 | 0.0160 | -5 | c.251 others(24): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 2/11 | chr7 | TogoVar |