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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATRX_chrX_77499880_77791216 | 77737435 | A | AAGG | intron_variant | MODIFIER | NA18966.hp1 NA19001.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0089a0001c0001t0002g0184 | 2 | 218 | 0.0092 | 3 | c.21- others(20): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 1/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77737435 | A | AGGG | intron_variant | MODIFIER | HG01243.hp1 HG02257.hp1 HG02280.hp1 others(2): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0003a0001c0001t0004a0001c0001t0008others(2): Show | a0001c0001t0003g0088a0001c0001t0004g0185a0001c0001t0008g0077others(2): Show | 5 | 218 | 0.0229 | 3 | c.21- others(20): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 1/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77738558 | C | CTTT | intron_variant | MODIFIER | HG01243.hp1 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0008 | a0001c0001t0007g0066a0001c0001t0008g0077 | 2 | 218 | 0.0092 | 3 | c.21- others(20): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 1/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77740077 | A | AAAT | intron_variant | MODIFIER | HG00597.hp2 HG00642.hp1 HG01099.hp1 others(14): Show |
a0002 | a0002c0002a0002c0004 | a0002c0002t0001a0002c0002t0002a0002c0004t0001others(1): Show | a0002c0002t0001g0013a0002c0002t0001g0014a0002c0002t0001g0022others(14): Show | 17 | 218 | 0.0780 | 3 | c.21- others(20): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 1/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77753047 | A | AGCT | intron_variant | MODIFIER | NA19091.hp1 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0056 | 1 | 218 | 0.0046 | 3 | c.20+ others(20): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 1/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77754669 | C | CACT | intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0196 | 1 | 218 | 0.0046 | 3 | c.20+ others(20): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 1/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77761352 | A | ACAC | intron_variant | MODIFIER | NA18992.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 218 | 0.0046 | 3 | c.20+ others(20): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 1/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77773092 | T | TAAA | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0066 | 1 | 218 | 0.0046 | 3 | c.20+ others(20): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 1/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77773154 | T | TTAC | intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0131 | 1 | 218 | 0.0046 | 3 | c.20+ others(20): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 1/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77777191 | T | TAAA | intron_variant | MODIFIER | HG01070.hp1 HG01109.hp1 HG01243.hp1 others(15): Show |
a0001a0005 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0087a0001c0001t0001g0102a0001c0001t0002g0072others(15): Show | 18 | 218 | 0.0826 | 3 | c.20+ others(18): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 1/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77781441 | C | CAAA | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0066 | 1 | 218 | 0.0046 | 3 | c.20+ others(18): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 1/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77783723 | A | AAAG | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0182 | 1 | 218 | 0.0046 | 3 | c.20+ others(18): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 1/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77785589 | C | CCCG | intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0001 | 1 | 218 | 0.0046 | 3 | c.20+ others(16): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 1/34 | chrX | TogoVar | ||||||
ATR_chr3_142444235_142583733 | 142452683 | A | AACC | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG00597.hp2 others(48): Show |
a0001a0002a0003 | a0001c0004a0002c0002a0003c0003 | a0001c0004t0001a0001c0004t0002a0002c0002t0001others(1): Show | a0001c0004t0001g0156a0001c0004t0001g0205a0001c0004t0001g0206others(47): Show | 51 | 322 | 0.1584 | 3 | c.776 others(20): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 46/46 | chr3 | TogoVar | ||||||
ATR_chr3_142444235_142583733 | 142477212 | T | TATG | intron_variant | MODIFIER | HG00099.hp1 HG00642.hp2 HG00738.hp1 others(16): Show |
a0001a0008a0010others(1): Show | a0001c0006a0008c0012a0010c0014others(1): Show | a0001c0006t0001a0008c0012t0001a0010c0014t0001others(1): Show | a0001c0006t0001g0006a0001c0006t0001g0007a0001c0006t0001g0008others(16): Show | 19 | 322 | 0.0590 | 3 | c.622 others(22): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 36/46 | chr3 | TogoVar | ||||||
ATR_chr3_142444235_142583733 | 142544621 | C | CAAA | intron_variant | MODIFIER | HG01123.hp2 HG01884.hp1 HG02109.hp2 others(7): Show |
a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0006a0001c0006t0001g0007a0001c0006t0001g0009others(7): Show | 10 | 322 | 0.0311 | 3 | c.335 others(22): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 16/46 | chr3 | TogoVar | ||||||
ATR_chr3_142444235_142583733 | 142565733 | T | TAAA | intron_variant | MODIFIER | HG00597.hp1 HG00621.hp1 HG01175.hp1 others(26): Show |
a0001a0004 | a0001c0001a0001c0004a0004c0009 | a0001c0001t0001a0001c0004t0001a0004c0009t0001 | a0001c0001t0001g0033a0001c0001t0001g0034a0001c0001t0001g0036others(26): Show | 29 | 322 | 0.0901 | 3 | c.292 others(18): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 3/46 | chr3 | TogoVar | ||||||
ATR_chr3_142444235_142583733 | 142572372 | C | CTTT | intron_variant | MODIFIER | HG00597.hp1 HG00621.hp1 HG00673.hp1 others(37): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0034a0001c0001t0001g0035others(37): Show | 40 | 322 | 0.1242 | 3 | c.60- others(18): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 1/46 | chr3 | TogoVar | ||||||
ATXN10_chr22_45666834_45850307 | 45685923 | G | GTTA | intron_variant | MODIFIER | HG01243.hp2 HG02055.hp1 HG03130.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137a0001c0001t0001g0138a0001c0001t0001g0275others(1): Show | 4 | 316 | 0.0127 | 3 | c.117 others(20): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
ATXN10_chr22_45666834_45850307 | 45699490 | C | CTTT | intron_variant | MODIFIER | HG02572.hp1 HG02818.hp1 HG02970.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009 | a0001c0001t0001g0129a0001c0001t0002g0130a0001c0001t0002g0131others(3): Show | 6 | 316 | 0.0190 | 3 | c.392 others(18): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
ATXN10_chr22_45666834_45850307 | 45734869 | A | ATAT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp1 others(82): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(1): Show | a0001c0001t0001g0031a0001c0001t0001g0035a0001c0001t0001g0036others(82): Show | 85 | 316 | 0.2690 | 3 | c.895 others(20): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
ATXN10_chr22_45666834_45850307 | 45799087 | G | GTTT | intron_variant | MODIFIER | HG00738.hp1 HG03130.hp1 NA18975.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0154a0001c0001t0001g0258a0001c0001t0001g0259others(2): Show | 5 | 316 | 0.0158 | 3 | c.117 others(22): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
ATXN1L_chr16_71840976_71862328 | 71841397 | C | CAAA | upstream_gene_variant | MODIFIER | HG01109.hp1 HG01123.hp1 HG02055.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0015a0001c0001t0002g0002a0001c0001t0002g0030others(4): Show | 10 | 418 | 0.0239 | 3 | c.-48 others(14): Show |
ATXN1L | ENSG00000224470.9 | transcript | ENST00000427980.7 | protein_coding | 4578 | chr16 | TogoVar | ||||||
ATXN1L_chr16_71840976_71862328 | 71849215 | T | TAAA | intron_variant | MODIFIER | HG00140.hp1 HG00609.hp1 HG01169.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0019a0001c0001t0023others(1): Show | a0001c0001t0003g0005a0001c0001t0003g0039a0001c0001t0003g0041others(3): Show | 21 | 418 | 0.0502 | 3 | c.-11 others(20): Show |
ATXN1L | ENSG00000224470.9 | transcript | ENST00000427980.7 | protein_coding | 2/2 | chr16 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16300441 | T | TAAG | 3_prime_UTR_variant | MODIFIER | HG02280.hp1 HG02486.hp1 HG02615.hp2 others(5): Show |
a0005a0009a0010 | a0005c0006a0005c0060a0009c0025others(1): Show | a0005c0006t0006a0005c0060t0006a0009c0025t0031others(1): Show | a0005c0006t0006g0010a0005c0060t0006g0132a0009c0025t0031g0058others(5): Show | 8 | 182 | 0.0440 | 3 | c.*58 others(14): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 8/8 | 5887 | chr6 | TogoVar | |||||
ATXN1_chr6_16294112_16766460 | 16301085 | C | CTTT | 3_prime_UTR_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00597.hp1 others(68): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0029a0001c0052others(26): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0011others(42): Show | a0001c0001t0002g0020a0001c0001t0002g0076a0001c0001t0002g0077others(68): Show | 71 | 182 | 0.3901 | 3 | c.*52 others(14): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 8/8 | 5243 | chr6 | TogoVar | |||||
ATXN1_chr6_16294112_16766460 | 16327633 | G | GTGC | disruptive_inframe_insertion | MODERATE | HG00140.hp1 HG00423.hp2 HG00642.hp1 others(53): Show |
a0001a0006a0010others(8): Show | a0001c0001a0001c0027a0001c0028others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(30): Show | a0001c0001t0001g0037a0001c0001t0001g0043a0001c0001t0001g0045others(53): Show | 56 | 182 | 0.3077 | 3 | c.675 others(10): Show |
p.Gln others(6): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 7/8 | 1569/10557 | 677/2448 | 226/815 | chr6 | TogoVar | ||
ATXN1_chr6_16294112_16766460 | 16327684 | A | ATGC | disruptive_inframe_insertion | MODERATE | HG00408.hp1 HG00438.hp1 HG00597.hp2 others(35): Show |
a0004a0006a0008others(4): Show | a0004c0005a0004c0015a0004c0023others(13): Show | a0004c0005t0002a0004c0005t0008a0004c0015t0001others(22): Show | a0004c0005t0002g0072a0004c0005t0002g0075a0004c0005t0002g0096others(35): Show | 38 | 182 | 0.2088 | 3 | c.624 others(10): Show |
p.Gln others(6): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 7/8 | 1518/10557 | 626/2448 | 209/815 | chr6 | TogoVar | ||
ATXN1_chr6_16294112_16766460 | 16341877 | A | ATTT | intron_variant | MODIFIER | HG00735.hp1 HG02451.hp1 HG03139.hp1 others(2): Show |
a0013a0022a0032others(1): Show | a0013c0038a0022c0019a0032c0045others(1): Show | a0013c0038t0034a0022c0019t0001a0032c0045t0018others(1): Show | a0013c0038t0034g0139a0022c0019t0001g0025a0022c0019t0001g0127others(2): Show | 5 | 182 | 0.0275 | 3 | c.-16 others(24): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16429377 | T | TAAA | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00423.hp1 others(66): Show |
a0001a0002a0003others(23): Show | a0001c0001a0002c0002a0002c0004others(33): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(47): Show | a0001c0001t0001g0037a0001c0001t0001g0083a0001c0001t0001g0108others(66): Show | 69 | 182 | 0.3791 | 3 | c.-16 others(24): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16429425 | G | GTTT | intron_variant | MODIFIER | HG02896.hp2 HG03209.hp2 HG03516.hp2 others(2): Show |
a0002a0003a0005others(2): Show | a0002c0002a0003c0051a0005c0006others(2): Show | a0002c0002t0003a0003c0051t0010a0005c0006t0003others(2): Show | a0002c0002t0003g0133a0003c0051t0010g0173a0005c0006t0003g0051others(2): Show | 5 | 182 | 0.0275 | 3 | c.-16 others(24): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16439338 | C | CGGG | intron_variant | MODIFIER | HG01070.hp2 HG01074.hp2 HG01261.hp1 others(20): Show |
a0001a0003a0004others(14): Show | a0001c0001a0001c0028a0003c0003others(16): Show | a0001c0001t0001a0001c0028t0015a0003c0003t0001others(18): Show | a0001c0001t0001g0103a0001c0028t0015g0125a0003c0003t0001g0042others(20): Show | 23 | 182 | 0.1264 | 3 | c.-16 others(24): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16443208 | C | CAAA | intron_variant | MODIFIER | HG01243.hp2 HG02970.hp1 HG03041.hp1 others(2): Show |
a0001a0005a0006others(2): Show | a0001c0027a0005c0006a0006c0008others(2): Show | a0001c0027t0001a0005c0006t0003a0006c0008t0010others(2): Show | a0001c0027t0001g0024a0005c0006t0003g0166a0006c0008t0010g0038others(2): Show | 5 | 182 | 0.0275 | 3 | c.-16 others(24): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16453588 | T | TATC | intron_variant | MODIFIER | HG02258.hp2 HG02451.hp2 |
a0027a0031 | a0027c0049a0031c0048 | a0027c0049t0003a0031c0048t0042 | a0027c0049t0003g0149a0031c0048t0042g0026 | 2 | 182 | 0.0110 | 3 | c.-16 others(24): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16454125 | C | CAAA | intron_variant | MODIFIER | HG02280.hp1 HG02896.hp2 HG02965.hp2 others(8): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0002c0004others(4): Show | a0001c0001t0011a0002c0002t0002a0002c0002t0010others(5): Show | a0001c0001t0011g0131a0002c0002t0002g0089a0002c0002t0010g0015others(8): Show | 11 | 182 | 0.0604 | 3 | c.-16 others(24): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16491090 | A | ATTT | intron_variant | MODIFIER | HG01978.hp2 HG02300.hp2 HG02622.hp1 others(5): Show |
a0001a0002a0003others(4): Show | a0001c0027a0001c0028a0002c0002others(5): Show | a0001c0027t0001a0001c0028t0015a0002c0002t0003others(5): Show | a0001c0027t0001g0107a0001c0028t0015g0017a0002c0002t0003g0133others(5): Show | 8 | 182 | 0.0440 | 3 | c.-29 others(22): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 5/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16491258 | A | AATT | intron_variant | MODIFIER | HG00438.hp1 HG01070.hp2 HG01081.hp1 others(41): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0029a0001c0052others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0029t0048others(30): Show | a0001c0001t0001g0037a0001c0001t0001g0045a0001c0001t0001g0083others(41): Show | 44 | 182 | 0.2418 | 3 | c.-29 others(22): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 5/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16543632 | T | TAAA | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00438.hp2 others(39): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0027a0002c0002others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0029others(26): Show | a0001c0001t0001g0037a0001c0001t0001g0103a0001c0001t0001g0178others(39): Show | 42 | 182 | 0.2308 | 3 | c.-36 others(24): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 4/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16543652 | A | AAAG | intron_variant | MODIFIER | HG00642.hp2 HG01257.hp1 HG01496.hp1 others(12): Show |
a0001a0002a0003others(7): Show | a0001c0001a0002c0002a0002c0004others(10): Show | a0001c0001t0001a0001c0001t0030a0002c0002t0003others(11): Show | a0001c0001t0001g0043a0001c0001t0030g0021a0002c0002t0003g0007others(12): Show | 15 | 182 | 0.0824 | 3 | c.-36 others(24): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 4/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16564864 | A | ATGC | intron_variant | MODIFIER | HG02622.hp1 NA19240.hp2 NA20300.hp2 |
a0005a0006a0035 | a0005c0006a0006c0008a0035c0036 | a0005c0006t0003a0006c0008t0011a0035c0036t0007 | a0005c0006t0003g0070a0006c0008t0011g0053a0035c0036t0007g0019 | 3 | 182 | 0.0165 | 3 | c.-36 others(24): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 4/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16569528 | G | GAAA | intron_variant | MODIFIER | HG00408.hp2 HG01109.hp1 HG01346.hp2 others(3): Show |
a0002a0004a0007others(2): Show | a0002c0002a0002c0004a0004c0005others(3): Show | a0002c0002t0008a0002c0004t0001a0004c0005t0008others(3): Show | a0002c0002t0008g0116a0002c0004t0001g0073a0004c0005t0008g0068others(3): Show | 6 | 182 | 0.0330 | 3 | c.-36 others(24): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 4/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16579480 | G | GCCC | intron_variant | MODIFIER | HG01168.hp2 HG02004.hp1 HG02132.hp1 others(7): Show |
a0001a0002a0004others(4): Show | a0001c0001a0002c0004a0004c0031others(4): Show | a0001c0001t0001a0001c0001t0002a0002c0004t0001others(5): Show | a0001c0001t0001g0043a0001c0001t0001g0045a0001c0001t0002g0076others(7): Show | 10 | 182 | 0.0550 | 3 | c.-36 others(22): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 4/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16584633 | A | ACCC | intron_variant | MODIFIER | HG02451.hp1 HG02723.hp1 HG02895.hp1 others(7): Show |
a0002a0003a0005others(4): Show | a0002c0002a0003c0003a0005c0006others(5): Show | a0002c0002t0003a0003c0003t0009a0005c0006t0003others(6): Show | a0002c0002t0003g0133a0003c0003t0009g0055a0005c0006t0003g0057others(7): Show | 10 | 182 | 0.0550 | 3 | c.-36 others(22): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 4/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16611849 | A | ATTT | intron_variant | MODIFIER | HG00423.hp1 HG01081.hp2 HG01346.hp1 others(12): Show |
a0001a0003a0004others(9): Show | a0001c0001a0003c0003a0004c0005others(9): Show | a0001c0001t0001a0001c0001t0011a0003c0003t0001others(11): Show | a0001c0001t0001g0037a0001c0001t0011g0131a0003c0003t0001g0042others(12): Show | 15 | 182 | 0.0824 | 3 | c.-48 others(24): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 3/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16660832 | G | GTTT | intron_variant | MODIFIER | HG00438.hp1 HG01884.hp2 HG02055.hp2 others(5): Show |
a0001a0004a0005others(2): Show | a0001c0001a0001c0028a0004c0015others(3): Show | a0001c0001t0002a0001c0028t0015a0004c0015t0001others(4): Show | a0001c0001t0002g0076a0001c0028t0015g0017a0004c0015t0001g0157others(5): Show | 8 | 182 | 0.0440 | 3 | c.-61 others(22): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16673020 | C | CAAA | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(110): Show |
a0001a0002a0003others(30): Show | a0001c0001a0001c0027a0001c0028others(45): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(73): Show | a0001c0001t0001g0045a0001c0001t0001g0105a0001c0001t0001g0123others(110): Show | 113 | 182 | 0.6209 | 3 | c.-61 others(24): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16674336 | C | CTTT | intron_variant | MODIFIER | HG00642.hp1 HG01074.hp1 HG01243.hp2 others(16): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0027a0001c0029others(14): Show | a0001c0001t0011a0001c0027t0001a0001c0029t0048others(15): Show | a0001c0001t0011g0131a0001c0027t0001g0024a0001c0029t0048g0031others(16): Show | 19 | 182 | 0.1044 | 3 | c.-61 others(24): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16677105 | G | GGTT | intron_variant | MODIFIER | HG01081.hp1 HG01978.hp1 HG03453.hp2 others(1): Show |
a0001a0002a0036 | a0001c0001a0002c0002a0002c0004others(1): Show | a0001c0001t0001a0002c0002t0041a0002c0004t0001others(1): Show | a0001c0001t0001g0159a0002c0002t0041g0079a0002c0004t0001g0182others(1): Show | 4 | 182 | 0.0220 | 3 | c.-61 others(24): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16689520 | T | TTTC | intron_variant | MODIFIER | HG00423.hp2 HG00642.hp1 HG01074.hp1 others(24): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0027a0001c0028others(17): Show | a0001c0001t0001a0001c0001t0030a0001c0027t0001others(21): Show | a0001c0001t0001g0105a0001c0001t0030g0021a0001c0027t0001g0024others(24): Show | 27 | 182 | 0.1484 | 3 | c.-61 others(24): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16706736 | A | AAAC | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00423.hp1 others(126): Show |
a0001a0002a0003others(30): Show | a0001c0001a0001c0028a0001c0029others(47): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(83): Show | a0001c0001t0001g0037a0001c0001t0001g0043a0001c0001t0001g0045others(126): Show | 129 | 182 | 0.7088 | 3 | c.-61 others(24): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar |