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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATXN1_chr6_16294112_16766460 | 16327684 | A | ATGCTGC | disruptive_inframe_insertion | MODERATE | HG00423.hp1 HG00735.hp1 HG00735.hp2 others(17): Show |
a0010a0013a0016others(3): Show | a0010c0010a0010c0039a0013c0013others(6): Show | a0010c0010t0006a0010c0039t0001a0013c0013t0005others(11): Show | a0010c0010t0006g0008a0010c0010t0006g0014a0010c0010t0006g0052others(17): Show | 20 | 182 | 0.1099 | 6 | c.621 others(13): Show |
p.Gln others(13): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 7/8 | 1518/10557 | 626/2448 | 209/815 | chr6 | TogoVar | ||
ATXN1_chr6_16294112_16766460 | 16367331 | G | GTTTCTC | intron_variant | MODIFIER | HG00597.hp2 HG03130.hp2 HG03834.hp2 others(8): Show |
a0004a0007a0011others(1): Show | a0004c0005a0004c0023a0004c0041others(3): Show | a0004c0005t0002a0004c0023t0002a0004c0041t0001others(3): Show | a0004c0005t0002g0072a0004c0005t0002g0075a0004c0005t0002g0122others(8): Show | 11 | 182 | 0.0604 | 6 | c.-16 others(27): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16367362 | T | TCTCACA | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00609.hp1 others(5): Show |
a0004a0008a0013others(1): Show | a0004c0005a0008c0012a0008c0024others(2): Show | a0004c0005t0002a0008c0012t0005a0008c0024t0001others(3): Show | a0004c0005t0002g0096a0008c0012t0005g0091a0008c0012t0005g0168others(5): Show | 8 | 182 | 0.0440 | 6 | c.-16 others(27): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16371716 | A | ATTTATT | intron_variant | MODIFIER | HG00735.hp1 HG02723.hp1 HG03453.hp1 others(1): Show |
a0002a0007a0009others(1): Show | a0002c0002a0007c0009a0009c0025others(1): Show | a0002c0002t0016a0007c0009t0035a0009c0025t0033others(1): Show | a0002c0002t0016g0111a0007c0009t0035g0018a0009c0025t0033g0165others(1): Show | 4 | 182 | 0.0220 | 6 | c.-16 others(27): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16390680 | T | TCACACA | intron_variant | MODIFIER | HG01074.hp2 HG01257.hp2 HG01261.hp1 others(3): Show |
a0003a0004a0012others(2): Show | a0003c0003a0004c0005a0004c0023others(3): Show | a0003c0003t0002a0004c0005t0002a0004c0023t0002others(3): Show | a0003c0003t0002g0120a0004c0005t0002g0160a0004c0023t0002g0035others(3): Show | 6 | 182 | 0.0330 | 6 | c.-16 others(27): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16454125 | C | CAAAAAA | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG01257.hp1 others(15): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0027a0001c0029others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0027t0001others(13): Show | a0001c0001t0001g0105a0001c0001t0002g0129a0001c0027t0001g0107others(15): Show | 18 | 182 | 0.0989 | 6 | c.-16 others(27): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16471191 | A | AACACAC | intron_variant | MODIFIER | HG01074.hp2 HG01081.hp2 HG01243.hp2 others(12): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0027a0002c0002others(10): Show | a0001c0001t0001a0001c0001t0020a0001c0027t0001others(11): Show | a0001c0001t0001g0158a0001c0001t0020g0002a0001c0027t0001g0024others(12): Show | 15 | 182 | 0.0824 | 6 | c.-16 others(27): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16471688 | C | CGTGTGT | intron_variant | MODIFIER | HG00423.hp2 HG00642.hp1 HG01361.hp1 others(28): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0029a0002c0002others(20): Show | a0001c0001t0001a0001c0001t0011a0001c0029t0039others(24): Show | a0001c0001t0001g0037a0001c0001t0001g0105a0001c0001t0011g0131others(28): Show | 31 | 182 | 0.1703 | 6 | c.-16 others(27): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16484991 | G | GTGTGTA | intron_variant | MODIFIER | HG01346.hp1 HG02004.hp1 HG02155.hp1 others(13): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0028a0002c0002others(11): Show | a0001c0001t0001a0001c0001t0005a0001c0028t0015others(12): Show | a0001c0001t0001g0045a0001c0001t0005g0085a0001c0028t0015g0125others(13): Show | 16 | 182 | 0.0879 | 6 | c.-16 others(23): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16491258 | A | AATTATT | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(44): Show |
a0001a0002a0003others(17): Show | a0001c0001a0002c0002a0002c0004others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0044others(32): Show | a0001c0001t0001g0103a0001c0001t0001g0105a0001c0001t0001g0158others(44): Show | 47 | 182 | 0.2582 | 6 | c.-29 others(25): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 5/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16579480 | G | GCCCCCC | intron_variant | MODIFIER | HG00140.hp1 HG00735.hp2 HG01070.hp1 others(10): Show |
a0002a0004a0009others(5): Show | a0002c0002a0004c0005a0009c0016others(5): Show | a0002c0002t0002a0002c0002t0003a0002c0002t0009others(8): Show | a0002c0002t0002g0089a0002c0002t0003g0061a0002c0002t0009g0094others(10): Show | 13 | 182 | 0.0714 | 6 | c.-36 others(25): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 4/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16584271 | C | CACACAT | intron_variant | MODIFIER | HG01074.hp1 HG01109.hp2 HG02896.hp2 others(2): Show |
a0002a0003a0007others(1): Show | a0002c0002a0003c0051a0007c0009others(2): Show | a0002c0002t0010a0003c0051t0010a0007c0009t0002others(2): Show | a0002c0002t0010g0015a0003c0051t0010g0173a0007c0009t0002g0164others(2): Show | 5 | 182 | 0.0275 | 6 | c.-36 others(25): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 4/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16586043 | G | GCGCGCA | intron_variant | MODIFIER | HG01255.hp2 HG02257.hp1 HG02451.hp1 others(14): Show |
a0001a0002a0003others(8): Show | a0001c0029a0002c0002a0003c0003others(9): Show | a0001c0029t0048a0002c0002t0003a0003c0003t0009others(12): Show | a0001c0029t0048g0031a0002c0002t0003g0133a0003c0003t0009g0055others(14): Show | 17 | 182 | 0.0934 | 6 | c.-48 others(23): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 3/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16613585 | G | GGGAGGC | intron_variant | MODIFIER | HG01109.hp2 HG02055.hp1 HG02896.hp1 |
a0006a0007a0024 | a0006c0046a0007c0009a0024c0018 | a0006c0046t0001a0007c0009t0002a0024c0018t0001 | a0006c0046t0001g0012a0007c0009t0002g0164a0024c0018t0001g0009 | 3 | 182 | 0.0165 | 6 | c.-48 others(27): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 3/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16613587 | G | GAGGCGT | intron_variant | MODIFIER | HG01074.hp1 HG02486.hp2 HG02615.hp1 others(12): Show |
a0001a0003a0005others(8): Show | a0001c0052a0003c0003a0005c0006others(8): Show | a0001c0052t0047a0003c0003t0009a0005c0006t0003others(9): Show | a0001c0052t0047g0060a0003c0003t0009g0055a0005c0006t0003g0006others(12): Show | 15 | 182 | 0.0824 | 6 | c.-48 others(27): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 3/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16617766 | C | CAAAAAA | intron_variant | MODIFIER | HG01496.hp1 HG02886.hp2 NA18747.hp1 others(4): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0002c0004others(4): Show | a0001c0001t0030a0002c0002t0003a0002c0004t0001others(4): Show | a0001c0001t0030g0021a0002c0002t0003g0007a0002c0004t0001g0046others(4): Show | 7 | 182 | 0.0385 | 6 | c.-48 others(27): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 3/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16644563 | G | GGTGTGT | intron_variant | MODIFIER | HG01361.hp2 HG03688.hp1 HG04115.hp1 others(2): Show |
a0001a0004a0008others(2): Show | a0001c0001a0004c0005a0008c0024others(2): Show | a0001c0001t0002a0004c0005t0008a0008c0024t0001others(2): Show | a0001c0001t0002g0020a0004c0005t0008g0068a0008c0024t0001g0074others(2): Show | 5 | 182 | 0.0275 | 6 | c.-48 others(27): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 3/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16687657 | T | TACACAC | intron_variant | MODIFIER | HG00642.hp2 HG01346.hp1 HG01361.hp2 others(4): Show |
a0003a0005a0009others(3): Show | a0003c0003a0003c0051a0005c0006others(4): Show | a0003c0003t0001a0003c0051t0010a0005c0006t0003others(4): Show | a0003c0003t0001g0042a0003c0051t0010g0173a0005c0006t0003g0006others(4): Show | 7 | 182 | 0.0385 | 6 | c.-61 others(27): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16689047 | C | CTGTGTG | intron_variant | MODIFIER | HG00642.hp1 HG01074.hp1 HG01243.hp2 others(22): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0027a0001c0028others(17): Show | a0001c0001t0030a0001c0027t0001a0001c0028t0015others(20): Show | a0001c0001t0030g0021a0001c0027t0001g0024a0001c0028t0015g0125others(22): Show | 25 | 182 | 0.1374 | 6 | c.-61 others(27): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16730483 | G | GTATATA | intron_variant | MODIFIER | HG02895.hp2 NA18960.hp1 |
a0004a0037 | a0004c0023a0037c0032 | a0004c0023t0009a0037c0032t0002 | a0004c0023t0009g0110a0037c0032t0002g0170 | 2 | 182 | 0.0110 | 6 | c.-61 others(27): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16730485 | A | ATGTGTG | intron_variant | MODIFIER | HG00140.hp1 HG01074.hp2 HG02135.hp2 others(4): Show |
a0004a0008a0011others(3): Show | a0004c0005a0008c0024a0011c0007others(3): Show | a0004c0005t0008a0008c0024t0001a0011c0007t0002others(4): Show | a0004c0005t0008g0068a0008c0024t0001g0074a0011c0007t0002g0162others(4): Show | 7 | 182 | 0.0385 | 6 | c.-61 others(27): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16730487 | G | GTATATA | intron_variant | MODIFIER | HG00597.hp1 HG00609.hp1 HG01258.hp2 others(10): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0002c0004others(4): Show | a0001c0001t0002a0002c0002t0002a0002c0002t0008others(6): Show | a0001c0001t0002g0020a0001c0001t0002g0129a0002c0002t0002g0090others(10): Show | 13 | 182 | 0.0714 | 6 | c.-61 others(27): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16730487 | G | GTATGTA | intron_variant | MODIFIER | HG03453.hp2 HG03516.hp2 NA18986.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004 | a0001c0001t0001a0002c0002t0003a0002c0002t0008others(2): Show | a0001c0001t0001g0178a0002c0002t0003g0133a0002c0002t0008g0140others(2): Show | 5 | 182 | 0.0275 | 6 | c.-61 others(27): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16730487 | G | GTGTATA | intron_variant | MODIFIER | HG00642.hp1 HG01243.hp2 HG02257.hp1 others(7): Show |
a0001a0005a0006others(2): Show | a0001c0027a0001c0029a0005c0006others(4): Show | a0001c0027t0001a0001c0029t0048a0005c0006t0003others(5): Show | a0001c0027t0001g0024a0001c0029t0048g0031a0005c0006t0003g0006others(7): Show | 10 | 182 | 0.0550 | 6 | c.-61 others(27): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16731454 | C | CTTTTTT | intron_variant | MODIFIER | HG00735.hp1 HG01074.hp2 HG02451.hp1 others(2): Show |
a0006a0007a0013others(2): Show | a0006c0043a0007c0009a0013c0038others(2): Show | a0006c0043t0010a0007c0009t0002a0013c0038t0034others(2): Show | a0006c0043t0010g0128a0007c0009t0002g0126a0013c0038t0034g0139others(2): Show | 5 | 182 | 0.0275 | 6 | c.-61 others(27): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16745933 | C | CGTGTGT | intron_variant | MODIFIER | HG01074.hp2 HG01081.hp2 HG01261.hp2 others(3): Show |
a0002a0003a0009others(2): Show | a0002c0002a0003c0003a0009c0016others(2): Show | a0002c0002t0001a0003c0003t0001a0003c0003t0037others(3): Show | a0002c0002t0001g0071a0003c0003t0001g0109a0003c0003t0037g0150others(3): Show | 6 | 182 | 0.0330 | 6 | c.-61 others(25): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16745954 | G | GTGTGTA | intron_variant | MODIFIER | HG01978.hp1 HG02300.hp2 |
a0003a0036 | a0003c0003a0036c0037 | a0003c0003t0022a0036c0037t0001 | a0003c0003t0022g0119a0036c0037t0001g0117 | 2 | 182 | 0.0110 | 6 | c.-61 others(25): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | ||||||
ATXN2_chr12_111447214_111604315 | 111462977 | T | TACACAC | intron_variant | MODIFIER | HG00597.hp1 HG01071.hp1 HG01123.hp1 others(50): Show |
a0001a0002a0003others(2): Show | a0001c0003a0002c0002a0002c0016others(3): Show | a0001c0003t0001a0002c0002t0001a0002c0002t0003others(4): Show | a0001c0003t0001g0129a0001c0003t0001g0130a0001c0003t0001g0143others(50): Show | 53 | 298 | 0.1779 | 6 | c.289 others(25): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | TogoVar | ||||||
ATXN2_chr12_111447214_111604315 | 111462977 | T | TATACAC | intron_variant | MODIFIER | HG00544.hp2 HG02132.hp2 NA18941.hp1 others(20): Show |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0001a0002c0002t0001 | a0001c0003t0001g0133a0002c0002t0001g0010a0002c0002t0001g0011others(20): Show | 23 | 298 | 0.0772 | 6 | c.289 others(25): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | TogoVar | ||||||
ATXN2_chr12_111447214_111604315 | 111463001 | C | CACATAT | intron_variant | MODIFIER | HG03209.hp1 HG03453.hp1 HG03471.hp2 others(1): Show |
a0003a0007 | a0003c0004a0007c0015 | a0003c0004t0003a0007c0015t0005 | a0003c0004t0003g0088a0003c0004t0003g0090a0003c0004t0003g0092others(1): Show | 4 | 298 | 0.0134 | 6 | c.289 others(25): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | TogoVar | ||||||
ATXN2_chr12_111447214_111604315 | 111464247 | G | GGTGTGT | intron_variant | MODIFIER | HG01081.hp1 HG01243.hp1 HG01884.hp1 others(52): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0002c0002others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(11): Show | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0003g0009others(52): Show | 55 | 298 | 0.1846 | 6 | c.289 others(23): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | TogoVar | ||||||
ATXN2_chr12_111447214_111604315 | 111464329 | G | GTGTGTT | intron_variant | MODIFIER | HG01081.hp1 HG02886.hp2 HG03471.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0148a0001c0003t0001g0176a0001c0003t0001g0177others(1): Show | 4 | 298 | 0.0134 | 6 | c.289 others(23): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | TogoVar | ||||||
ATXN2_chr12_111447214_111604315 | 111464335 | T | TTGTGTG | intron_variant | MODIFIER | HG03195.hp2 HG04204.hp1 NA18973.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0223a0001c0001t0002g0271a0001c0001t0004g0246 | 3 | 298 | 0.0101 | 6 | c.289 others(23): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | TogoVar | ||||||
ATXN2_chr12_111447214_111604315 | 111483194 | T | TACACAC | intron_variant | MODIFIER | HG02735.hp1 HG03017.hp1 HG03098.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0006 | a0001c0001t0002g0222a0001c0001t0002g0223a0001c0001t0002g0236others(5): Show | 8 | 298 | 0.0269 | 6 | c.252 others(25): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | TogoVar | ||||||
ATXN2_chr12_111447214_111604315 | 111553597 | A | ATTTTTT | intron_variant | MODIFIER | HG01943.hp2 HG02280.hp1 HG02717.hp1 others(5): Show |
a0003a0006a0018others(1): Show | a0003c0007a0003c0014a0006c0010others(2): Show | a0003c0007t0003a0003c0007t0005a0003c0014t0003others(3): Show | a0003c0007t0003g0114a0003c0007t0003g0117a0003c0007t0005g0116others(5): Show | 8 | 298 | 0.0269 | 6 | c.348 others(21): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | TogoVar | ||||||
ATXN2_chr12_111447214_111604315 | 111553602 | A | ATTTTTT | intron_variant | MODIFIER | HG01071.hp1 HG01123.hp1 HG01928.hp1 others(17): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0003 | a0002c0002t0001g0017a0002c0002t0001g0032a0002c0002t0001g0038others(17): Show | 20 | 298 | 0.0671 | 6 | c.348 others(21): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | TogoVar | ||||||
ATXN2_chr12_111447214_111604315 | 111553604 | A | ATTTTTT | intron_variant | MODIFIER | HG00408.hp2 HG01081.hp1 HG01167.hp1 others(12): Show |
a0001a0003a0004 | a0001c0003a0001c0012a0003c0005others(2): Show | a0001c0003t0001a0001c0012t0001a0003c0005t0001others(2): Show | a0001c0003t0001g0124a0001c0003t0001g0129a0001c0003t0001g0133others(12): Show | 15 | 298 | 0.0503 | 6 | c.348 others(21): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | TogoVar | ||||||
ATXN2_chr12_111447214_111604315 | 111591364 | T | TTAAAAA | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
a0003a0006a0007others(6): Show | a0003c0004a0003c0006a0003c0007others(9): Show | a0003c0004t0003a0003c0004t0005a0003c0004t0008others(12): Show | a0003c0004t0003g0088a0003c0004t0003g0089a0003c0004t0003g0090others(38): Show | 41 | 298 | 0.1376 | 6 | c.251 others(23): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | TogoVar | ||||||
ATXN2_chr12_111447214_111604315 | 111596205 | A | AACACAC | intron_variant | MODIFIER | HG00544.hp2 HG00597.hp1 HG01123.hp1 others(46): Show |
a0001a0002a0003others(2): Show | a0001c0003a0002c0002a0002c0016others(4): Show | a0001c0003t0001a0001c0003t0003a0002c0002t0001others(6): Show | a0001c0003t0001g0129a0001c0003t0001g0130a0001c0003t0001g0131others(46): Show | 49 | 298 | 0.1644 | 6 | c.251 others(23): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | TogoVar | ||||||
ATXN3_chr14_92053552_92111582 | 92065889 | A | AAATAAT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00423.hp1 others(137): Show |
a0003a0004a0006others(35): Show | a0003c0003a0004c0026a0006c0005others(37): Show | a0003c0003t0002a0003c0003t0004a0003c0003t0011others(83): Show | a0003c0003t0002g0036a0003c0003t0002g0058a0003c0003t0002g0061others(134): Show | 140 | 402 | 0.3483 | 6 | c.992 others(23): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 10/10 | chr14 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105605042 | C | CTTTTTT | 3_prime_UTR_variant | MODIFIER | HG01109.hp1 HG01192.hp1 HG01258.hp1 others(3): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0020a0001c0001t0026a0001c0001t0051others(1): Show | a0001c0001t0020g0120a0001c0001t0020g0169a0001c0001t0026g0189others(3): Show | 6 | 252 | 0.0238 | 6 | c.*28 others(17): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 12/12 | 2809 | chr7 | TogoVar | |||||
ATXN7L1_chr7_105599772_105881599 | 105619140 | G | GTTTTTT | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00558.hp2 others(44): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(21): Show | a0001c0001t0001g0026a0001c0001t0001g0082a0001c0001t0001g0108others(44): Show | 47 | 252 | 0.1865 | 6 | c.151 others(25): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 9/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105619495 | C | CATATAT | intron_variant | MODIFIER | HG03041.hp2 NA18747.hp2 NA19087.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0009 | a0001c0001t0001g0078a0001c0001t0007g0218a0001c0001t0009g0146 | 3 | 252 | 0.0119 | 6 | c.151 others(23): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 9/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105630893 | G | GAAAAAC | intron_variant | MODIFIER | HG00280.hp2 HG00558.hp2 HG00642.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0002g0049a0001c0001t0002g0056a0001c0001t0002g0245others(14): Show | 17 | 252 | 0.0675 | 6 | c.120 others(25): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 7/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105685044 | G | GATAATA | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00558.hp1 others(31): Show |
a0001a0004 | a0001c0001a0001c0008a0004c0013 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0003a0001c0001t0001g0074a0001c0001t0001g0080others(31): Show | 34 | 252 | 0.1349 | 6 | c.356 others(25): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105722560 | T | TAAAAAA | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp2 HG02027.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(5): Show | a0001c0001t0001g0026a0001c0001t0001g0106a0001c0001t0002g0042others(7): Show | 10 | 252 | 0.0397 | 6 | c.356 others(25): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105727746 | G | GTGTATA | intron_variant | MODIFIER | HG02027.hp2 NA19003.hp2 NA19085.hp2 |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0018 | a0001c0001t0011g0157a0001c0001t0011g0164a0001c0001t0018g0046 | 3 | 252 | 0.0119 | 6 | c.355 others(25): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105737528 | C | CGTGTGT | intron_variant | MODIFIER | HG00673.hp1 HG00738.hp1 HG02523.hp2 others(4): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0006a0001c0001t0007a0001c0001t0013others(3): Show | a0001c0001t0006g0197a0001c0001t0007g0144a0001c0001t0007g0202others(4): Show | 7 | 252 | 0.0278 | 6 | c.355 others(25): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105759484 | G | GTGTGTT | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(105): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0006a0001c0008others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(44): Show | a0001c0001t0001g0003a0001c0001t0001g0009a0001c0001t0001g0033others(105): Show | 108 | 252 | 0.4286 | 6 | c.355 others(25): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105771201 | G | GATAATA | intron_variant | MODIFIER | HG01175.hp2 HG01243.hp2 HG01358.hp2 others(29): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0005a0001c0001t0001g0009a0001c0001t0001g0044others(29): Show | 32 | 252 | 0.1270 | 6 | c.355 others(25): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar |