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 | 16367333 | TTC | T | intron_variant | MODIFIER | HG02486.hp2 HG02809.hp2 HG02886.hp2 others(3): Show |
a0002a0003a0006 | a0002c0002a0003c0003a0006c0008 | a0002c0002t0003a0002c0002t0010a0003c0003t0001others(1): Show | a0002c0002t0003g0007a0002c0002t0003g0061a0002c0002t0003g0133others(3): Show | 6 | 182 | 0.0330 | -2 | c.-16 others(23): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16367362 | TCA | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00408.hp2 others(103): Show |
a0001a0002a0003others(27): Show | a0001c0001a0001c0027a0001c0028others(42): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(69): Show | a0001c0001t0001g0043a0001c0001t0001g0045a0001c0001t0001g0083others(103): Show | 106 | 182 | 0.5824 | -2 | c.-16 others(23): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16368343 | CTT | C | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp1 HG01884.hp1 others(2): Show |
a0001a0015 | a0001c0001a0015c0030 | a0001c0001t0001a0001c0001t0011a0001c0001t0020others(1): Show | a0001c0001t0001g0108a0001c0001t0001g0123a0001c0001t0011g0131others(2): Show | 5 | 182 | 0.0275 | -2 | c.-16 others(23): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16396013 | CAA | C | intron_variant | MODIFIER | HG00408.hp2 HG01169.hp2 HG01884.hp2 others(3): Show |
a0002a0005a0006others(1): Show | a0002c0004a0005c0006a0005c0060others(2): Show | a0002c0004t0001a0005c0006t0003a0005c0060t0006others(3): Show | a0002c0004t0001g0073a0005c0006t0003g0114a0005c0060t0006g0132others(3): Show | 6 | 182 | 0.0330 | -2 | c.-16 others(23): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16409802 | CAT | C | intron_variant | MODIFIER | HG00438.hp1 HG00597.hp1 HG00609.hp2 others(19): Show |
a0001a0002a0004others(8): Show | a0001c0001a0001c0027a0002c0002others(11): Show | a0001c0001t0001a0001c0001t0029a0001c0027t0001others(16): Show | a0001c0001t0001g0103a0001c0001t0001g0123a0001c0001t0029g0145others(19): Show | 22 | 182 | 0.1209 | -2 | c.-16 others(23): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16421745 | CAT | C | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00609.hp1 others(35): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0028a0002c0002others(18): Show | a0001c0001t0001a0001c0001t0005a0001c0028t0015others(24): Show | a0001c0001t0001g0178a0001c0001t0005g0085a0001c0028t0015g0125others(35): Show | 38 | 182 | 0.2088 | -2 | c.-16 others(23): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16429425 | GTT | G | intron_variant | MODIFIER | HG00140.hp2 HG00597.hp1 HG00609.hp2 others(24): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0027a0001c0028others(16): Show | a0001c0001t0029a0001c0027t0001a0001c0028t0015others(22): Show | a0001c0001t0029g0145a0001c0027t0001g0024a0001c0027t0001g0107others(24): Show | 27 | 182 | 0.1484 | -2 | c.-16 others(23): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16433117 | GAA | G | intron_variant | MODIFIER | HG02970.hp2 HG03139.hp1 HG06807.hp1 |
a0005a0009a0032 | a0005c0060a0009c0025a0032c0045 | a0005c0060t0006a0009c0025t0031a0032c0045t0018 | a0005c0060t0006g0132a0009c0025t0031g0058a0032c0045t0018g0059 | 3 | 182 | 0.0165 | -2 | c.-16 others(23): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16439338 | CGG | C | intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 HG02257.hp1 others(10): Show |
a0001a0003a0004others(5): Show | a0001c0001a0003c0003a0003c0051others(6): Show | a0001c0001t0002a0003c0003t0002a0003c0003t0009others(9): Show | a0001c0001t0002g0076a0001c0001t0002g0129a0003c0003t0002g0120others(10): Show | 13 | 182 | 0.0714 | -2 | c.-16 others(23): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16443208 | CAA | C | intron_variant | MODIFIER | HG00408.hp2 HG01081.hp1 HG01169.hp2 others(14): Show |
a0001a0002a0011others(4): Show | a0001c0001a0002c0002a0002c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(11): Show | a0001c0001t0001g0159a0001c0001t0002g0076a0002c0002t0001g0071others(14): Show | 17 | 182 | 0.0934 | -2 | c.-16 others(23): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16444115 | CAA | C | intron_variant | MODIFIER | HG00642.hp1 HG01070.hp1 HG01168.hp2 others(6): Show |
a0001a0003a0005others(5): Show | a0001c0001a0001c0052a0003c0003others(6): Show | a0001c0001t0005a0001c0052t0047a0003c0003t0009others(6): Show | a0001c0001t0005g0085a0001c0052t0047g0060a0003c0003t0009g0055others(6): Show | 9 | 182 | 0.0495 | -2 | c.-16 others(23): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16450315 | CAT | C | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(89): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0027a0001c0029others(33): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(56): Show | a0001c0001t0001g0037a0001c0001t0001g0105a0001c0001t0001g0123others(89): Show | 92 | 182 | 0.5055 | -2 | c.-16 others(23): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16466317 | CAA | C | intron_variant | MODIFIER | HG01496.hp2 HG02257.hp2 HG02486.hp1 others(10): Show |
a0001a0003a0006others(5): Show | a0001c0001a0001c0028a0001c0029others(7): Show | a0001c0001t0001a0001c0028t0015a0001c0029t0048others(7): Show | a0001c0001t0001g0178a0001c0028t0015g0017a0001c0029t0048g0031others(10): Show | 13 | 182 | 0.0714 | -2 | c.-16 others(23): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16474835 | TAC | T | intron_variant | MODIFIER | HG00597.hp1 HG00642.hp1 HG00642.hp2 others(32): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0029a0002c0002others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(27): Show | a0001c0001t0001g0123a0001c0001t0001g0159a0001c0001t0002g0076others(32): Show | 35 | 182 | 0.1923 | -2 | c.-16 others(23): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16484947 | ATG | A | intron_variant | MODIFIER | HG00597.hp1 HG00642.hp2 HG01109.hp2 others(14): Show |
a0001a0002a0004others(8): Show | a0001c0001a0001c0029a0002c0002others(11): Show | a0001c0001t0002a0001c0029t0039a0001c0029t0048others(13): Show | a0001c0001t0002g0076a0001c0001t0002g0129a0001c0029t0039g0041others(14): Show | 17 | 182 | 0.0934 | -2 | c.-16 others(21): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16490134 | CAA | C | intron_variant | MODIFIER | HG01109.hp2 HG01361.hp1 HG01496.hp1 others(22): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0028a0001c0029others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0030others(19): Show | a0001c0001t0001g0037a0001c0001t0002g0129a0001c0001t0030g0021others(22): Show | 25 | 182 | 0.1374 | -2 | c.-29 others(21): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 5/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16495853 | ACT | A | intron_variant | MODIFIER | HG00423.hp1 HG02155.hp1 |
a0013a0020 | a0013c0013a0020c0020 | a0013c0013t0016a0020c0020t0026 | a0013c0013t0016g0153a0020c0020t0026g0088 | 2 | 182 | 0.0110 | -2 | c.-29 others(21): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 5/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16500759 | AAC | A | intron_variant | MODIFIER | HG02004.hp1 HG02486.hp1 HG03130.hp1 others(8): Show |
a0001a0004a0007others(5): Show | a0001c0001a0001c0028a0004c0005others(7): Show | a0001c0001t0001a0001c0028t0015a0004c0005t0002others(7): Show | a0001c0001t0001g0045a0001c0028t0015g0017a0004c0005t0002g0072others(8): Show | 11 | 182 | 0.0604 | -2 | c.-29 others(23): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 5/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16550155 | CAA | C | intron_variant | MODIFIER | HG00423.hp1 HG00597.hp2 HG00609.hp1 others(35): Show |
a0001a0002a0003others(9): Show | a0001c0001a0002c0002a0002c0004others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0029others(23): Show | a0001c0001t0001g0037a0001c0001t0001g0103a0001c0001t0002g0020others(35): Show | 38 | 182 | 0.2088 | -2 | c.-36 others(23): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 4/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16557326 | CAA | C | intron_variant | MODIFIER | HG01243.hp1 HG01243.hp2 HG01255.hp2 others(22): Show |
a0001a0002a0003others(10): Show | a0001c0027a0001c0029a0002c0002others(14): Show | a0001c0027t0001a0001c0029t0039a0001c0029t0048others(18): Show | a0001c0027t0001g0024a0001c0029t0039g0041a0001c0029t0048g0031others(22): Show | 25 | 182 | 0.1374 | -2 | c.-36 others(23): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 4/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16558300 | CAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00597.hp1 others(5): Show |
a0002a0003a0004others(3): Show | a0002c0002a0003c0003a0004c0005others(3): Show | a0002c0002t0002a0002c0002t0009a0003c0003t0021others(4): Show | a0002c0002t0002g0090a0002c0002t0009g0094a0003c0003t0021g0003others(5): Show | 8 | 182 | 0.0440 | -2 | c.-36 others(23): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 4/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16568299 | AGG | A | 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 | -2 | c.-36 others(23): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 4/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16573493 | CCT | C | intron_variant | MODIFIER | HG01255.hp2 HG01258.hp2 HG01884.hp1 others(22): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0028a0001c0029others(13): Show | a0001c0001t0020a0001c0028t0015a0001c0029t0048others(18): Show | a0001c0001t0020g0002a0001c0028t0015g0017a0001c0029t0048g0031others(22): Show | 25 | 182 | 0.1374 | -2 | c.-36 others(23): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 4/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16578744 | GAA | G | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00438.hp2 others(15): Show |
a0002a0004a0007others(6): Show | a0002c0002a0002c0004a0004c0005others(9): Show | a0002c0002t0002a0002c0002t0008a0002c0002t0010others(11): Show | a0002c0002t0002g0090a0002c0002t0008g0081a0002c0002t0008g0140others(15): Show | 18 | 182 | 0.0989 | -2 | c.-36 others(21): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 4/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16581195 | CTG | C | intron_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG00735.hp1 others(22): Show |
a0001a0002a0006others(12): Show | a0001c0001a0001c0027a0002c0002others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(22): Show | a0001c0001t0001g0037a0001c0001t0002g0077a0001c0001t0011g0131others(22): Show | 25 | 182 | 0.1374 | -2 | c.-36 others(21): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 4/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16581224 | TGC | T | intron_variant | MODIFIER | HG02809.hp1 HG02970.hp1 NA18946.hp1 others(2): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0002a0006c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0041others(2): Show | a0001c0001t0001g0158a0001c0001t0002g0020a0002c0002t0041g0079others(2): Show | 5 | 182 | 0.0275 | -2 | c.-36 others(21): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 4/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16581230 | CGT | C | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00597.hp1 others(9): Show |
a0002a0004a0008others(2): Show | a0002c0002a0002c0004a0004c0005others(4): Show | a0002c0002t0002a0002c0002t0008a0002c0004t0001others(5): Show | a0002c0002t0002g0090a0002c0002t0008g0081a0002c0002t0008g0140others(9): Show | 12 | 182 | 0.0659 | -2 | c.-36 others(21): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 4/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16584243 | TAC | T | intron_variant | MODIFIER | HG02055.hp1 HG02258.hp2 HG02280.hp1 others(1): Show |
a0006a0010a0024others(1): Show | a0006c0046a0010c0010a0024c0018others(1): Show | a0006c0046t0001a0010c0010t0006a0024c0018t0001others(1): Show | a0006c0046t0001g0012a0010c0010t0006g0113a0024c0018t0001g0009others(1): Show | 4 | 182 | 0.0220 | -2 | c.-36 others(21): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 4/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16584279 | CAT | C | intron_variant | MODIFIER | HG02055.hp1 HG02615.hp1 NA18946.hp2 |
a0001a0005a0024 | a0001c0001a0005c0006a0024c0018 | a0001c0001t0029a0005c0006t0003a0024c0018t0001 | a0001c0001t0029g0145a0005c0006t0003g0006a0024c0018t0001g0009 | 3 | 182 | 0.0165 | -2 | c.-36 others(21): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 4/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16586043 | GCA | G | intron_variant | MODIFIER | HG02055.hp1 HG02258.hp2 HG02280.hp1 |
a0010a0024a0027 | a0010c0010a0024c0018a0027c0049 | a0010c0010t0006a0024c0018t0001a0027c0049t0003 | a0010c0010t0006g0113a0024c0018t0001g0009a0027c0049t0003g0149 | 3 | 182 | 0.0165 | -2 | c.-48 others(19): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 3/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16593858 | CAT | C | intron_variant | MODIFIER | HG01884.hp1 NA18972.hp2 NA18986.hp1 others(1): Show |
a0001a0002a0022 | a0001c0001a0002c0002a0002c0004others(1): Show | a0001c0001t0020a0002c0002t0043a0002c0004t0001others(1): Show | a0001c0001t0020g0002a0002c0002t0043g0175a0002c0004t0001g0046others(1): Show | 4 | 182 | 0.0220 | -2 | c.-48 others(21): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 3/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16597440 | ATT | A | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00438.hp2 others(21): Show |
a0001a0002a0004others(10): Show | a0001c0001a0001c0028a0001c0029others(14): Show | a0001c0001t0001a0001c0028t0015a0001c0029t0039others(16): Show | a0001c0001t0001g0123a0001c0001t0001g0178a0001c0028t0015g0017others(21): Show | 24 | 182 | 0.1319 | -2 | c.-48 others(23): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 3/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16620236 | TTC | T | intron_variant | MODIFIER | HG00642.hp1 HG00735.hp1 HG01168.hp1 others(28): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0027a0001c0028others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0044others(24): Show | a0001c0001t0001g0083a0001c0001t0001g0108a0001c0001t0002g0077others(28): Show | 31 | 182 | 0.1703 | -2 | c.-48 others(23): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 3/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16620262 | AAC | A | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG01074.hp2 others(19): Show |
a0001a0002a0003others(9): Show | a0001c0001a0002c0002a0002c0004others(11): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0029others(16): Show | a0001c0001t0001g0083a0001c0001t0001g0103a0001c0001t0001g0108others(19): Show | 22 | 182 | 0.1209 | -2 | c.-48 others(23): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 3/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16638445 | CAA | C | intron_variant | MODIFIER | HG00642.hp1 HG01074.hp1 HG01081.hp1 others(17): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0027a0001c0028others(13): Show | a0001c0001t0001a0001c0027t0001a0001c0028t0015others(14): Show | a0001c0001t0001g0159a0001c0027t0001g0024a0001c0028t0015g0125others(17): Show | 20 | 182 | 0.1099 | -2 | c.-48 others(23): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 3/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16644563 | GGT | G | 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 | -2 | c.-48 others(23): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 3/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16660635 | ATT | A | intron_variant | MODIFIER | HG01261.hp2 NA18522.hp1 |
a0002a0018 | a0002c0002a0018c0056 | a0002c0002t0001a0018c0056t0007 | a0002c0002t0001g0071a0018c0056t0007g0011 | 2 | 182 | 0.0110 | -2 | c.-61 others(21): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16662969 | ATT | A | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00438.hp2 others(49): Show |
a0001a0002a0003others(21): Show | a0001c0001a0001c0027a0001c0029others(27): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(39): Show | a0001c0001t0001g0045a0001c0001t0001g0083a0001c0001t0001g0108others(49): Show | 52 | 182 | 0.2857 | -2 | c.-61 others(21): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16671307 | TTC | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(100): Show |
a0001a0002a0003others(25): Show | a0001c0001a0001c0027a0001c0028others(39): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(63): Show | a0001c0001t0001g0037a0001c0001t0001g0045a0001c0001t0001g0083others(100): Show | 103 | 182 | 0.5659 | -2 | c.-61 others(23): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16694252 | CTT | C | intron_variant | MODIFIER | HG00438.hp1 HG01070.hp2 HG02155.hp1 others(7): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0002c0004others(5): Show | a0001c0001t0002a0002c0002t0003a0002c0002t0043others(7): Show | a0001c0001t0002g0076a0002c0002t0003g0007a0002c0002t0043g0175others(7): Show | 10 | 182 | 0.0550 | -2 | c.-61 others(23): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16694759 | CCT | C | intron_variant | MODIFIER | HG02055.hp1 HG02615.hp2 HG02622.hp2 others(2): Show |
a0001a0009a0010others(2): Show | a0001c0029a0009c0025a0010c0010others(2): Show | a0001c0029t0048a0009c0025t0033a0010c0010t0006others(2): Show | a0001c0029t0048g0031a0009c0025t0033g0165a0010c0010t0006g0008others(2): Show | 5 | 182 | 0.0275 | -2 | c.-61 others(23): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16711363 | TAA | T | intron_variant | MODIFIER | HG01243.hp2 HG02257.hp1 HG02280.hp2 others(7): Show |
a0001a0003a0005others(3): Show | a0001c0027a0001c0029a0003c0003others(5): Show | a0001c0027t0001a0001c0029t0048a0003c0003t0009others(6): Show | a0001c0027t0001g0024a0001c0029t0048g0031a0003c0003t0009g0055others(7): Show | 10 | 182 | 0.0550 | -2 | c.-61 others(23): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16714181 | CCA | C | intron_variant | MODIFIER | HG00423.hp2 HG00735.hp2 HG01070.hp1 others(20): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0027a0002c0004others(14): Show | a0001c0001t0001a0001c0027t0001a0002c0004t0017others(18): Show | a0001c0001t0001g0105a0001c0027t0001g0107a0002c0004t0017g0121others(20): Show | 23 | 182 | 0.1264 | -2 | c.-61 others(23): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16745933 | CGT | C | intron_variant | MODIFIER | HG01109.hp2 HG01255.hp2 HG01361.hp1 others(9): Show |
a0001a0002a0006others(3): Show | a0001c0027a0001c0029a0002c0002others(6): Show | a0001c0027t0001a0001c0029t0039a0001c0029t0048others(9): Show | a0001c0027t0001g0107a0001c0029t0039g0041a0001c0029t0048g0031others(9): Show | 12 | 182 | 0.0659 | -2 | c.-61 others(21): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16753143 | AAC | A | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(55): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0028a0002c0002others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0029others(31): Show | a0001c0001t0001g0037a0001c0001t0001g0123a0001c0001t0001g0158others(55): Show | 58 | 182 | 0.3187 | -2 | c.-61 others(17): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16759530 | GTT | G | intron_variant | MODIFIER | HG01074.hp2 HG02135.hp2 HG02895.hp2 others(3): Show |
a0003a0004a0011others(3): Show | a0003c0051a0004c0005a0011c0007others(3): Show | a0003c0051t0010a0004c0005t0008a0011c0007t0003others(3): Show | a0003c0051t0010g0173a0004c0005t0008g0068a0011c0007t0003g0066others(3): Show | 6 | 182 | 0.0330 | -2 | c.-73 others(21): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 1/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16761065 | TAC | T | intron_variant | MODIFIER | HG00140.hp1 HG00609.hp2 HG00642.hp1 others(48): Show |
a0001a0002a0003others(21): Show | a0001c0001a0001c0027a0001c0029others(30): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0030others(40): Show | a0001c0001t0001g0037a0001c0001t0001g0043a0001c0001t0001g0045others(48): Show | 51 | 182 | 0.2802 | -2 | c.-73 others(19): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 1/7 | chr6 | TogoVar | ||||||
ATXN2L_chr16_28817999_28842232 | 28819391 | CTT | C | upstream_gene_variant | MODIFIER | HG01070.hp1 HG01074.hp2 HG01081.hp2 others(8): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0009 | a0001c0001t0001a0001c0001t0006a0001c0002t0001others(1): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(8): Show | 11 | 382 | 0.0288 | -2 | c.-38 others(13): Show |
ATXN2L | ENSG00000168488.19 | transcript | ENST00000336783.9 | protein_coding | 3607 | chr16 | TogoVar | ||||||
ATXN2L_chr16_28817999_28842232 | 28822934 | GGC | G | upstream_gene_variant | MODIFIER | HG00642.hp2 HG00735.hp2 HG01515.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0013a0001c0002t0001 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0030others(5): Show | 9 | 382 | 0.0236 | -2 | c.-32 others(11): Show |
ATXN2L | ENSG00000168488.19 | transcript | ENST00000336783.9 | protein_coding | 64 | chr16 | TogoVar | ||||||
ATXN2L_chr16_28817999_28842232 | 28822935 | GCC | G | upstream_gene_variant | MODIFIER | HG00733.hp1 HG00735.hp1 HG02071.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0012others(6): Show | 16 | 382 | 0.0419 | -2 | c.-32 others(11): Show |
ATXN2L | ENSG00000168488.19 | transcript | ENST00000336783.9 | protein_coding | 63 | chr16 | TogoVar |