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 | 16330069 | TTTTC | T | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00597.hp1 others(66): Show |
a0001a0002a0005others(15): Show | a0001c0001a0001c0027a0001c0028others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(38): Show | a0001c0001t0001g0178a0001c0001t0002g0020a0001c0001t0002g0077others(66): Show | 69 | 182 | 0.3791 | -4 | c.-16 others(23): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16330374 | TTTCC | T | intron_variant | MODIFIER | HG02258.hp2 HG02451.hp1 NA19030.hp1 |
a0022a0027 | a0022c0019a0027c0049 | a0022c0019t0001a0027c0049t0003 | a0022c0019t0001g0025a0022c0019t0001g0127a0027c0049t0003g0149 | 3 | 182 | 0.0165 | -4 | c.-16 others(23): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16367360 | TCTCA | T | intron_variant | MODIFIER | HG00642.hp1 HG02451.hp1 HG02630.hp1 others(3): Show |
a0003a0006a0009others(1): Show | a0003c0003a0006c0008a0006c0043others(2): Show | a0003c0003t0009a0006c0008t0046a0006c0043t0010others(2): Show | a0003c0003t0009g0055a0006c0008t0046g0062a0006c0043t0010g0128others(3): Show | 6 | 182 | 0.0330 | -4 | c.-16 others(25): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16372914 | AAAAT | A | intron_variant | MODIFIER | HG00597.hp1 HG02132.hp2 HG02970.hp2 others(1): Show |
a0002a0005a0008others(1): Show | a0002c0002a0005c0060a0008c0024others(1): Show | a0002c0002t0002a0005c0060t0006a0008c0024t0001others(1): Show | a0002c0002t0002g0090a0005c0060t0006g0132a0008c0024t0001g0074others(1): Show | 4 | 182 | 0.0220 | -4 | c.-16 others(25): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16372934 | TAAAC | T | intron_variant | MODIFIER | HG01255.hp2 HG01258.hp2 HG01261.hp2 others(25): Show |
a0001a0002a0003others(12): Show | a0001c0001a0002c0002a0003c0003others(13): Show | a0001c0001t0002a0002c0002t0001a0003c0003t0009others(18): Show | a0001c0001t0002g0077a0002c0002t0001g0071a0003c0003t0009g0055others(25): Show | 28 | 182 | 0.1539 | -4 | c.-16 others(25): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16378537 | CTTTA | C | intron_variant | MODIFIER | HG00642.hp1 HG01109.hp2 HG01361.hp1 others(12): Show |
a0001a0002a0003others(8): Show | a0001c0029a0002c0004a0003c0003others(9): Show | a0001c0029t0039a0002c0004t0001a0003c0003t0022others(9): Show | a0001c0029t0039g0041a0002c0004t0001g0182a0003c0003t0022g0119others(12): Show | 15 | 182 | 0.0824 | -4 | c.-16 others(25): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16385744 | TTCTC | T | intron_variant | MODIFIER | HG00408.hp2 HG01081.hp1 HG01169.hp2 others(9): Show |
a0001a0002a0003others(7): Show | a0001c0001a0002c0004a0003c0003others(8): Show | a0001c0001t0001a0002c0004t0001a0003c0003t0001others(8): Show | a0001c0001t0001g0159a0002c0004t0001g0073a0003c0003t0001g0039others(9): Show | 12 | 182 | 0.0659 | -4 | c.-16 others(25): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16402242 | GTTTT | G | intron_variant | MODIFIER | HG01243.hp2 HG02055.hp1 HG02602.hp2 others(4): Show |
a0001a0004a0006others(3): Show | a0001c0027a0004c0015a0004c0023others(4): Show | a0001c0027t0001a0004c0015t0001a0004c0023t0009others(4): Show | a0001c0027t0001g0024a0004c0015t0001g0176a0004c0023t0009g0110others(4): Show | 7 | 182 | 0.0385 | -4 | c.-16 others(25): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16447935 | CACTT | C | intron_variant | MODIFIER | HG01109.hp2 HG01496.hp2 HG02004.hp2 others(7): Show |
a0001a0006a0007others(3): Show | a0001c0028a0006c0008a0006c0043others(4): Show | a0001c0028t0015a0006c0008t0011a0006c0043t0010others(4): Show | a0001c0028t0015g0017a0006c0008t0011g0053a0006c0043t0010g0128others(7): Show | 10 | 182 | 0.0550 | -4 | c.-16 others(25): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16471191 | AACAC | A | intron_variant | MODIFIER | HG02135.hp2 HG02300.hp2 NA19062.hp2 |
a0003a0011a0026 | a0003c0003a0011c0007a0026c0061 | a0003c0003t0022a0011c0007t0003a0026c0061t0036 | a0003c0003t0022g0119a0011c0007t0003g0066a0026c0061t0036g0095 | 3 | 182 | 0.0165 | -4 | c.-16 others(25): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16484947 | ATGTG | A | intron_variant | MODIFIER | HG04115.hp2 NA18946.hp1 NA18973.hp2 |
a0001a0002a0011 | a0001c0001a0002c0004a0011c0007 | a0001c0001t0044a0002c0004t0001a0011c0007t0002 | a0001c0001t0044g0118a0002c0004t0001g0084a0011c0007t0002g0097 | 3 | 182 | 0.0165 | -4 | c.-16 others(23): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16526041 | CTATA | C | intron_variant | MODIFIER | HG00642.hp2 HG00735.hp1 HG01261.hp2 others(12): Show |
a0001a0002a0005others(7): Show | a0001c0001a0001c0028a0002c0002others(8): Show | a0001c0001t0002a0001c0028t0015a0002c0002t0001others(10): Show | a0001c0001t0002g0076a0001c0028t0015g0125a0002c0002t0001g0071others(12): Show | 15 | 182 | 0.0824 | -4 | c.-36 others(23): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 4/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16581222 | TGTGC | T | intron_variant | MODIFIER | HG00438.hp1 HG00597.hp2 HG00609.hp1 others(6): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0004c0005others(3): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0029others(5): Show | a0001c0001t0001g0159a0001c0001t0005g0085a0001c0001t0029g0145others(6): Show | 9 | 182 | 0.0495 | -4 | c.-36 others(23): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 4/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16584241 | TATAC | T | intron_variant | MODIFIER | HG01884.hp1 NA19030.hp1 |
a0001a0022 | a0001c0001a0022c0019 | a0001c0001t0020a0022c0019t0001 | a0001c0001t0020g0002a0022c0019t0001g0025 | 2 | 182 | 0.0110 | -4 | c.-36 others(23): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 4/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16593858 | CATAT | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(101): Show |
a0001a0002a0003others(24): Show | a0001c0001a0001c0029a0002c0002others(37): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0029others(66): Show | a0001c0001t0001g0043a0001c0001t0001g0045a0001c0001t0001g0123others(101): Show | 104 | 182 | 0.5714 | -4 | c.-48 others(23): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 3/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16610254 | AAACC | A | intron_variant | MODIFIER | HG03927.hp2 NA19060.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037a0001c0001t0001g0178 | 2 | 182 | 0.0110 | -4 | c.-48 others(25): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 3/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16611849 | ATTTT | A | intron_variant | MODIFIER | HG02895.hp1 HG02965.hp1 HG03041.hp2 others(4): Show |
a0001a0003a0005others(3): Show | a0001c0052a0003c0003a0005c0006others(3): Show | a0001c0052t0047a0003c0003t0009a0005c0006t0003others(3): Show | a0001c0052t0047g0060a0003c0003t0009g0055a0005c0006t0003g0057others(4): Show | 7 | 182 | 0.0385 | -4 | c.-48 others(25): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 3/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16617391 | GAATA | G | intron_variant | MODIFIER | HG00423.hp2 HG02809.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0003 | a0001c0001t0001g0105a0002c0002t0003g0061 | 2 | 182 | 0.0110 | -4 | c.-48 others(25): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 3/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16620262 | AACAC | A | intron_variant | MODIFIER | HG01074.hp1 HG02055.hp1 HG02056.hp1 others(15): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0028a0001c0052others(12): Show | a0001c0001t0001a0001c0028t0015a0001c0052t0047others(13): Show | a0001c0001t0001g0037a0001c0028t0015g0125a0001c0052t0047g0060others(15): Show | 18 | 182 | 0.0989 | -4 | c.-48 others(25): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 3/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16640764 | AGAGT | A | intron_variant | MODIFIER | HG00408.hp1 NA18942.hp1 NA19009.hp1 |
a0002a0004a0008 | a0002c0002a0004c0005a0008c0024 | a0002c0002t0008a0004c0005t0002a0008c0024t0001 | a0002c0002t0008g0140a0004c0005t0002g0096a0008c0024t0001g0143 | 3 | 182 | 0.0165 | -4 | c.-48 others(25): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 3/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16642026 | AATTG | A | intron_variant | MODIFIER | HG01109.hp2 HG01261.hp2 HG01496.hp1 others(6): Show |
a0001a0002a0007others(5): Show | a0001c0001a0002c0002a0002c0004others(6): Show | a0001c0001t0030a0002c0002t0001a0002c0004t0001others(6): Show | a0001c0001t0030g0021a0002c0002t0001g0071a0002c0004t0001g0182others(6): Show | 9 | 182 | 0.0495 | -4 | c.-48 others(25): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 3/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16679372 | GTGGA | G | intron_variant | MODIFIER | HG00140.hp1 HG00735.hp2 HG01081.hp1 others(12): Show |
a0001a0002a0003others(8): Show | a0001c0001a0002c0004a0003c0003others(9): Show | a0001c0001t0001a0002c0004t0001a0003c0003t0001others(11): Show | a0001c0001t0001g0045a0001c0001t0001g0159a0002c0004t0001g0182others(12): Show | 15 | 182 | 0.0824 | -4 | c.-61 others(25): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16687657 | TACAC | T | intron_variant | MODIFIER | HG01496.hp1 HG02809.hp1 HG03041.hp1 others(1): Show |
a0001a0005a0012 | a0001c0001a0005c0006a0012c0011 | a0001c0001t0001a0001c0001t0030a0005c0006t0003others(1): Show | a0001c0001t0001g0158a0001c0001t0030g0021a0005c0006t0003g0166others(1): Show | 4 | 182 | 0.0220 | -4 | c.-61 others(25): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16689500 | CTTTT | C | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00609.hp2 others(18): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0027a0002c0002others(9): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0029others(12): Show | a0001c0001t0001g0123a0001c0001t0001g0178a0001c0001t0005g0085others(18): Show | 21 | 182 | 0.1154 | -4 | c.-61 others(25): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16695961 | TTCTC | T | intron_variant | MODIFIER | HG01243.hp1 HG01261.hp2 HG01496.hp1 others(7): Show |
a0001a0002a0006others(5): Show | a0001c0001a0001c0052a0002c0002others(7): Show | a0001c0001t0030a0001c0052t0047a0002c0002t0001others(7): Show | a0001c0001t0030g0021a0001c0052t0047g0060a0002c0002t0001g0071others(7): Show | 10 | 182 | 0.0550 | -4 | c.-61 others(25): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16698650 | TAAAA | T | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00597.hp2 others(18): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0029a0002c0002others(13): Show | a0001c0001t0001a0001c0001t0029a0001c0029t0048others(15): Show | a0001c0001t0001g0083a0001c0001t0001g0108a0001c0001t0029g0145others(18): Show | 21 | 182 | 0.1154 | -4 | c.-61 others(25): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16699769 | CTGAG | C | intron_variant | MODIFIER | HG01074.hp1 HG02615.hp1 HG03453.hp1 others(1): Show |
a0005a0007a0022others(1): Show | a0005c0006a0007c0009a0022c0019others(1): Show | a0005c0006t0003a0007c0009t0035a0022c0019t0001others(1): Show | a0005c0006t0003g0006a0007c0009t0035g0018a0022c0019t0001g0025others(1): Show | 4 | 182 | 0.0220 | -4 | c.-61 others(25): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16701693 | GACAA | G | intron_variant | MODIFIER | HG00423.hp2 HG00642.hp1 HG00735.hp2 others(32): Show |
a0001a0002a0003others(18): Show | a0001c0001a0001c0052a0002c0002others(23): Show | a0001c0001t0001a0001c0001t0020a0001c0001t0030others(29): Show | a0001c0001t0001g0105a0001c0001t0001g0159a0001c0001t0020g0002others(32): Show | 35 | 182 | 0.1923 | -4 | c.-61 others(25): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16745933 | CGTGT | C | intron_variant | MODIFIER | HG00408.hp1 HG00597.hp1 HG00609.hp1 others(44): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0027a0002c0002others(24): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(35): Show | a0001c0001t0001g0043a0001c0001t0001g0045a0001c0001t0001g0103others(44): Show | 47 | 182 | 0.2582 | -4 | c.-61 others(23): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16761065 | TACAC | T | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp1 HG02055.hp2 others(14): Show |
a0001a0002a0005others(8): Show | a0001c0001a0001c0028a0002c0002others(10): Show | a0001c0001t0020a0001c0028t0015a0002c0002t0003others(13): Show | a0001c0001t0020g0002a0001c0028t0015g0017a0002c0002t0003g0007others(14): Show | 17 | 182 | 0.0934 | -4 | c.-73 others(21): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 1/7 | chr6 | TogoVar | ||||||
ATXN2L_chr16_28817999_28842232 | 28819391 | CTTTT | C | upstream_gene_variant | MODIFIER | HG00438.hp1 HG03688.hp2 HG04228.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001a0001c0001t0001g0016a0001c0001t0001g0021others(3): Show | 6 | 382 | 0.0157 | -4 | c.-38 others(15): Show |
ATXN2L | ENSG00000168488.19 | transcript | ENST00000336783.9 | protein_coding | 3607 | chr16 | TogoVar | ||||||
ATXN2L_chr16_28817999_28842232 | 28822934 | GGCCC | G | upstream_gene_variant | MODIFIER | HG00099.hp2 HG01175.hp1 HG01256.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0021 | a0001c0001t0001a0001c0001t0006a0001c0002t0001others(1): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0049others(4): Show | 15 | 382 | 0.0393 | -4 | c.-32 others(13): Show |
ATXN2L | ENSG00000168488.19 | transcript | ENST00000336783.9 | protein_coding | 64 | chr16 | TogoVar | ||||||
ATXN2_chr12_111447214_111604315 | 111483190 | CACAT | C | intron_variant | MODIFIER | HG01081.hp1 HG01168.hp2 HG01361.hp2 others(30): Show |
a0001a0002a0003others(3): Show | a0001c0003a0002c0002a0003c0004others(4): Show | a0001c0003t0001a0002c0002t0001a0002c0002t0003others(5): Show | a0001c0003t0001g0148a0001c0003t0001g0155a0001c0003t0001g0156others(30): Show | 33 | 298 | 0.1107 | -4 | c.252 others(23): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | TogoVar | ||||||
ATXN2_chr12_111447214_111604315 | 111487453 | TTTTA | T | intron_variant | MODIFIER | HG00544.hp2 HG00597.hp1 HG01071.hp1 others(80): Show |
a0001a0002a0003others(3): Show | a0001c0003a0002c0002a0002c0016others(4): Show | a0001c0003t0001a0002c0002t0001a0002c0002t0003others(5): Show | a0001c0003t0001g0129a0001c0003t0001g0130a0001c0003t0001g0133others(80): Show | 83 | 298 | 0.2785 | -4 | c.224 others(21): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 15/24 | chr12 | TogoVar | ||||||
ATXN2_chr12_111447214_111604315 | 111522228 | TAAAA | T | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG02055.hp2 others(5): Show |
a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0094a0003c0004t0003g0095a0003c0004t0003g0098others(5): Show | 8 | 298 | 0.0269 | -4 | c.697 others(21): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 6/24 | chr12 | TogoVar | ||||||
ATXN2_chr12_111447214_111604315 | 111577256 | ATTAT | A | 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 | -4 | c.252 others(23): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | TogoVar | ||||||
ATXN2_chr12_111447214_111604315 | 111584377 | CAAAA | C | intron_variant | MODIFIER | HG01243.hp2 HG02027.hp1 HG02055.hp2 others(13): Show |
a0002a0003a0006others(2): Show | a0002c0002a0003c0004a0003c0006others(4): Show | a0002c0002t0001a0003c0004t0003a0003c0006t0003others(4): Show | a0002c0002t0001g0014a0002c0002t0001g0017a0002c0002t0001g0038others(13): Show | 16 | 298 | 0.0537 | -4 | c.251 others(23): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | TogoVar | ||||||
ATXN3_chr14_92053552_92111582 | 92059829 | AAAAG | A | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(134): Show |
a0002a0003a0004others(35): Show | a0002c0002a0003c0003a0004c0026others(37): Show | a0002c0002t0109a0003c0003t0002a0003c0003t0004others(80): Show | a0002c0002t0109g0178a0003c0003t0002g0036a0003c0003t0002g0058others(131): Show | 137 | 402 | 0.3408 | -4 | c.*44 others(15): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 11/11 | 4487 | chr14 | TogoVar | |||||
ATXN3_chr14_92053552_92111582 | 92060249 | CATAT | C | 3_prime_UTR_variant | MODIFIER | HG00323.hp2 HG01069.hp1 HG01167.hp1 others(31): Show |
a0005a0007a0010others(8): Show | a0005c0006a0007c0010a0010c0011others(9): Show | a0005c0006t0120a0007c0010t0006a0007c0010t0019others(22): Show | a0005c0006t0120g0193a0007c0010t0006g0377a0007c0010t0006g0381others(30): Show | 34 | 402 | 0.0846 | -4 | c.*40 others(15): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 11/11 | 4067 | chr14 | TogoVar | |||||
ATXN3_chr14_92053552_92111582 | 92066601 | GTTTT | G | intron_variant | MODIFIER | HG01109.hp1 HG02055.hp1 HG02257.hp2 others(6): Show |
a0003a0004a0016 | a0003c0003a0004c0026a0016c0025 | a0003c0003t0002a0004c0026t0054a0004c0026t0055others(6): Show | a0003c0003t0002g0103a0004c0026t0054g0017a0004c0026t0055g0018others(6): Show | 9 | 402 | 0.0224 | -4 | c.992 others(21): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 10/10 | chr14 | TogoVar | ||||||
ATXN3_chr14_92053552_92111582 | 92072694 | TAAAA | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00423.hp1 others(128): Show |
a0003a0004a0006others(33): Show | a0003c0003a0004c0026a0006c0005others(34): Show | a0003c0003t0001a0003c0003t0002a0003c0003t0004others(76): Show | a0003c0003t0001g0064a0003c0003t0001g0076a0003c0003t0001g0080others(124): Show | 131 | 402 | 0.3259 | -4 | c.873 others(21): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 9/10 | chr14 | TogoVar | ||||||
ATXN3_chr14_92053552_92111582 | 92074012 | CAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00423.hp1 others(119): Show |
a0003a0006a0008others(28): Show | a0003c0003a0006c0005a0006c0051others(30): Show | a0003c0003t0001a0003c0003t0002a0003c0003t0004others(65): Show | a0003c0003t0001g0064a0003c0003t0001g0076a0003c0003t0001g0077others(115): Show | 122 | 402 | 0.3035 | -4 | c.873 others(21): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 9/10 | chr14 | TogoVar | ||||||
ATXN3_chr14_92053552_92111582 | 92087453 | TGATA | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00423.hp1 others(146): Show |
a0003a0006a0008others(34): Show | a0003c0003a0006c0005a0006c0051others(36): Show | a0003c0003t0001a0003c0003t0002a0003c0003t0004others(84): Show | a0003c0003t0001g0064a0003c0003t0001g0076a0003c0003t0001g0077others(142): Show | 149 | 402 | 0.3707 | -4 | c.475 others(21): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 6/10 | chr14 | TogoVar | ||||||
ATXN3_chr14_92053552_92111582 | 92099931 | GAAGA | G | intron_variant | MODIFIER | HG02258.hp2 HG02723.hp1 NA20752.hp2 |
a0001a0035a0041 | a0001c0001a0035c0040a0041c0054 | a0001c0001t0010a0035c0040t0006a0041c0054t0076 | a0001c0001t0010g0209a0035c0040t0006g0365a0041c0054t0076g0153 | 3 | 402 | 0.0075 | -4 | c.25- others(19): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 1/10 | chr14 | TogoVar | ||||||
ATXN3_chr14_92053552_92111582 | 92102225 | AGAAG | A | intron_variant | MODIFIER | HG00140.hp1 HG00735.hp2 HG01192.hp2 others(8): Show |
a0002a0003a0005 | a0002c0002a0003c0003a0005c0018 | a0002c0002t0003a0002c0002t0109a0003c0003t0004others(2): Show | a0002c0002t0003g0176a0002c0002t0003g0177a0002c0002t0003g0179others(6): Show | 11 | 402 | 0.0274 | -4 | c.24+ others(19): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 1/10 | chr14 | TogoVar | ||||||
ATXN3_chr14_92053552_92111582 | 92107710 | CTTTT | C | upstream_gene_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG02257.hp2 others(12): Show |
a0004a0006a0011others(6): Show | a0004c0026a0006c0051a0011c0063others(6): Show | a0004c0026t0054a0004c0026t0055a0004c0026t0056others(9): Show | a0004c0026t0054g0017a0004c0026t0055g0018a0004c0026t0056g0016others(12): Show | 15 | 402 | 0.0373 | -4 | c.-11 others(15): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 1129 | chr14 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105600130 | ACTGT | A | downstream_gene_variant | MODIFIER | HG00558.hp2 HG02015.hp2 HG02135.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0011a0001c0001t0064 | a0001c0001t0004g0023a0001c0001t0011g0012a0001c0001t0011g0099others(7): Show | 10 | 252 | 0.0397 | -4 | c.*77 others(15): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 4641 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105628792 | CAAAT | C | intron_variant | MODIFIER | HG00558.hp1 HG00673.hp2 HG00741.hp2 others(62): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0119a0001c0001t0001g0185a0001c0001t0001g0214others(62): Show | 65 | 252 | 0.2579 | -4 | c.120 others(23): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 7/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105630719 | AAAAT | A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(185): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0005a0001c0006others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(62): Show | a0001c0001t0001g0026a0001c0001t0001g0044a0001c0001t0001g0059others(185): Show | 188 | 252 | 0.7460 | -4 | c.120 others(23): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 7/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105645810 | CACAA | C | intron_variant | MODIFIER | HG00642.hp1 HG00673.hp2 HG00738.hp1 others(49): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0017a0001c0001t0001g0080a0001c0001t0001g0081others(49): Show | 52 | 252 | 0.2064 | -4 | c.579 others(21): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 4/11 | chr7 | TogoVar |