view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATRX_chrX_77499880_77791216 | 77615812 | ATCC | A | intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0080 | 1 | 218 | 0.0046 | -3 | c.556 others(20): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 22/34 | chrX | TogoVar | |||||||
ATRX_chrX_77499880_77791216 | 77621848 | AAAC | A | intron_variant | MODIFIER | NA18906.hp2 NA18960.hp1 NA19003.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0178 |
3 | 218 | 0.0138 | -3 | c.513 others(22): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 19/34 | chrX | TogoVar | |||||||
ATRX_chrX_77499880_77791216 | 77636807 | AAGG | A | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0094 | 1 | 218 | 0.0046 | -3 | c.455 others(20): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 15/34 | chrX | TogoVar | |||||||
ATRX_chrX_77499880_77791216 | 77636970 | AAAG | A | intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0135 | 1 | 218 | 0.0046 | -3 | c.455 others(20): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 15/34 | chrX | TogoVar | |||||||
ATRX_chrX_77499880_77791216 | 77651217 | CAAA | C | intron_variant | MODIFIER | HG02451.hp1 HG02683.hp1 HG03710.hp1 others(1): Show |
a0001 | a0001c0001a0001c0013 | a0001c0001t0002a0001c0001t0006a0001c0001t0008others(1): Show | a0001c0001t0002g0175 a0001c0001t0006g0165 a0001c0001t0008g0006 others(1): Show |
4 | 218 | 0.0184 | -3 | c.455 others(20): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 15/34 | chrX | TogoVar | |||||||
ATRX_chrX_77499880_77791216 | 77664251 | TTTC | T | intron_variant | MODIFIER | NA18967.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0208 | 1 | 218 | 0.0046 | -3 | c.394 others(20): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 11/34 | chrX | TogoVar | |||||||
ATRX_chrX_77499880_77791216 | 77667565 | GGTT | G | intron_variant | MODIFIER | HG01243.hp1 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0021 | a0001c0001t0008g0077 a0001c0001t0021g0078 |
2 | 218 | 0.0092 | -3 | c.381 others(22): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 10/34 | chrX | TogoVar | |||||||
ATRX_chrX_77499880_77791216 | 77671147 | CAAA | C | intron_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0004 | 1 | 218 | 0.0046 | -3 | c.380 others(22): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 10/34 | chrX | TogoVar | |||||||
ATRX_chrX_77499880_77791216 | 77671166 | AAAT | A | intron_variant | MODIFIER | HG01074.hp1 HG01081.hp2 HG01433.hp1 others(12): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0019a0001c0003t0001others(1): Show | a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 others(12): Show |
15 | 218 | 0.0688 | -3 | c.380 others(22): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 10/34 | chrX | TogoVar | |||||||
ATRX_chrX_77499880_77791216 | 77678235 | AGAG | A | intron_variant | MODIFIER | HG02738.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0210 | 1 | 218 | 0.0046 | -3 | c.373 others(22): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 9/34 | chrX | TogoVar | |||||||
ATRX_chrX_77499880_77791216 | 77687152 | CAAA | C | intron_variant | MODIFIER | HG01243.hp1 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0021 | a0001c0001t0008g0077 a0001c0001t0021g0078 |
2 | 218 | 0.0092 | -3 | c.594 others(20): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 7/34 | chrX | TogoVar | |||||||
ATRX_chrX_77499880_77791216 | 77716110 | ATTT | A | intron_variant | MODIFIER | HG02257.hp1 HG02717.hp1 HG02965.hp1 others(1): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0003a0001c0010t0006 | a0001c0001t0003g0084 a0001c0001t0003g0085 a0001c0001t0003g0088 others(1): Show |
4 | 218 | 0.0184 | -3 | c.133 others(20): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 2/34 | chrX | TogoVar | |||||||
ATRX_chrX_77499880_77791216 | 77751962 | TTTG | T | intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0155 | 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 | 77771459 | CTTA | C | intron_variant | MODIFIER | HG03927.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0041 | 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 | 77779091 | ATTT | A | intron_variant | MODIFIER | HG02257.hp1 HG02723.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0087 a0001c0001t0003g0088 |
2 | 218 | 0.0092 | -3 | c.20+ others(18): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 1/34 | chrX | TogoVar | |||||||
ATRX_chrX_77499880_77791216 | 77788732 | GCCT | G | upstream_gene_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0125 | 1 | 218 | 0.0046 | -3 | c.-27 others(14): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 2517 | chrX | TogoVar | |||||||
ATRX_chrX_77499880_77791216 | 77790109 | CCAT | C | upstream_gene_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0066 | 1 | 218 | 0.0046 | -3 | c.-41 others(14): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 3894 | chrX | TogoVar | |||||||
ATR_chr3_142444235_142583733 | 142452676 | AAAC | A | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG00597.hp2 others(48): Show |
a0001a0002a0003 | a0001c0004a0002c0002a0003c0003 | a0001c0004t0001a0001c0004t0002a0002c0002t0001others(1): Show | a0001c0004t0001g0156 a0001c0004t0001g0205 a0001c0004t0001g0206 others(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 | 142463879 | GAGA | G | intron_variant | MODIFIER | HG01175.hp1 HG02647.hp2 HG02723.hp1 others(7): Show |
a0001a0004 | a0001c0004a0004c0009 | a0001c0004t0001a0004c0009t0001 | a0001c0004t0001g0025 a0001c0004t0001g0150 a0001c0004t0001g0153 others(7): Show |
10 | 322 | 0.0311 | -3 | c.704 others(22): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 41/46 | chr3 | TogoVar | |||||||
ATR_chr3_142444235_142583733 | 142475941 | GGTT | G | intron_variant | MODIFIER | HG01496.hp2 HG02055.hp1 HG02109.hp1 others(3): Show |
a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0197 a0001c0008t0001g0198 a0001c0008t0001g0199 others(3): Show |
6 | 322 | 0.0186 | -3 | c.622 others(22): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 36/46 | chr3 | TogoVar | |||||||
ATR_chr3_142444235_142583733 | 142496278 | CTAT | C | intron_variant | MODIFIER | HG00099.hp1 HG01081.hp1 HG01516.hp2 others(2): Show |
a0001a0003a0006 | a0001c0001a0003c0003a0006c0012 | a0001c0001t0001a0003c0003t0001a0006c0012t0001 | a0001c0001t0001g0048 a0001c0001t0001g0105 a0001c0001t0001g0119 others(2): Show |
5 | 322 | 0.0155 | -3 | c.589 others(18): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 34/46 | chr3 | TogoVar | |||||||
ATR_chr3_142444235_142583733 | 142507382 | AAGG | A | intron_variant | MODIFIER | HG00642.hp2 HG00738.hp1 HG01123.hp2 others(14): Show |
a0001a0012 | a0001c0006a0012c0022 | a0001c0006t0001a0012c0022t0001 | a0001c0006t0001g0006 a0001c0006t0001g0007 a0001c0006t0001g0008 others(14): Show |
17 | 322 | 0.0528 | -3 | c.503 others(20): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 28/46 | chr3 | TogoVar | |||||||
ATR_chr3_142444235_142583733 | 142514807 | CAAA | C | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG00597.hp1 others(126): Show |
a0001a0009a0011others(2): Show | a0001c0001a0001c0006a0009c0015others(3): Show | a0001c0001t0001a0001c0006t0001a0009c0015t0001others(3): Show | a0001c0001t0001g0005 a0001c0001t0001g0026 a0001c0001t0001g0032 others(126): Show |
129 | 322 | 0.4006 | -3 | c.450 others(20): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 25/46 | chr3 | TogoVar | |||||||
ATR_chr3_142444235_142583733 | 142517350 | TAAA | T | intron_variant | MODIFIER | HG01496.hp2 HG02055.hp1 HG02109.hp1 others(3): Show |
a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0197 a0001c0008t0001g0198 a0001c0008t0001g0199 others(3): Show |
6 | 322 | 0.0186 | -3 | c.438 others(22): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 24/46 | chr3 | TogoVar | |||||||
ATR_chr3_142444235_142583733 | 142533947 | ATCT | A | intron_variant | MODIFIER | HG00642.hp2 HG00738.hp1 HG01123.hp2 others(14): Show |
a0001a0012 | a0001c0006a0012c0022 | a0001c0006t0001a0012c0022t0001 | a0001c0006t0001g0006 a0001c0006t0001g0007 a0001c0006t0001g0008 others(14): Show |
17 | 322 | 0.0528 | -3 | c.394 others(22): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 21/46 | chr3 | TogoVar | |||||||
ATR_chr3_142444235_142583733 | 142539515 | AATG | A | intron_variant | MODIFIER | HG02083.hp2 NA18964.hp1 NA18978.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0225 a0002c0002t0001g0232 a0002c0002t0001g0250 others(1): Show |
4 | 322 | 0.0124 | -3 | c.358 others(20): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 18/46 | chr3 | TogoVar | |||||||
ATR_chr3_142444235_142583733 | 142544621 | CAAA | C | intron_variant | MODIFIER | HG00597.hp1 HG02129.hp2 HG04184.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 a0001c0001t0001g0109 a0001c0001t0001g0110 others(6): Show |
9 | 322 | 0.0280 | -3 | c.335 others(22): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 16/46 | chr3 | TogoVar | |||||||
ATR_chr3_142444235_142583733 | 142558986 | AAAG | A | intron_variant | MODIFIER | HG01175.hp1 HG02257.hp1 HG02280.hp1 others(17): Show |
a0001a0004 | a0001c0004a0004c0009 | a0001c0004t0001a0001c0004t0002a0004c0009t0001 | a0001c0004t0001g0025 a0001c0004t0001g0147 a0001c0004t0001g0149 others(17): Show |
20 | 322 | 0.0621 | -3 | c.173 others(20): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 7/46 | chr3 | TogoVar | |||||||
ATR_chr3_142444235_142583733 | 142574458 | CAAA | C | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG00597.hp2 others(89): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0004a0001c0006others(6): Show | a0001c0001t0001a0001c0004t0001a0001c0004t0002others(7): Show | a0001c0001t0001g0046 a0001c0001t0001g0086 a0001c0004t0001g0025 others(88): Show |
92 | 322 | 0.2857 | -3 | c.59+ others(18): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 1/46 | chr3 | TogoVar | |||||||
ATR_chr3_142444235_142583733 | 142575468 | CAAA | C | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG00642.hp1 others(43): Show |
a0001a0011 | a0001c0001a0011c0020 | a0001c0001t0001a0011c0020t0001 | a0001c0001t0001g0005 a0001c0001t0001g0032 a0001c0001t0001g0041 others(43): Show |
46 | 322 | 0.1429 | -3 | c.59+ others(18): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 1/46 | chr3 | TogoVar | |||||||
ATXN10_chr22_45666834_45850307 | 45670438 | CTTT | C | upstream_gene_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG02135.hp2 others(11): Show |
a0001a0003 | a0001c0001a0003c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(3): Show | a0001c0001t0001g0029 a0001c0001t0001g0046 a0001c0001t0001g0053 others(11): Show |
14 | 316 | 0.0443 | -3 | c.-16 others(14): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 1395 | chr22 | TogoVar | |||||||
ATXN10_chr22_45666834_45850307 | 45687761 | TAAG | T | intron_variant | MODIFIER | NA18988.hp1 NA18988.hp2 NA18995.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0019 a0001c0001t0001g0049 a0001c0001t0001g0055 others(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 | 45730344 | CAAA | C | intron_variant | MODIFIER | HG01099.hp2 HG01109.hp2 HG01243.hp1 others(34): Show |
a0001a0003 | a0001c0001a0003c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 others(34): Show |
37 | 316 | 0.1171 | -3 | c.894 others(18): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
ATXN10_chr22_45666834_45850307 | 45751739 | GGAA | G | intron_variant | MODIFIER | HG01891.hp1 HG03209.hp2 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0079 |
3 | 316 | 0.0095 | -3 | c.117 others(24): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 9/11 | chr22 | TogoVar | |||||||
ATXN10_chr22_45666834_45850307 | 45751843 | GTTT | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp1 others(164): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(6): Show | a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 others(164): Show |
167 | 316 | 0.5285 | -3 | c.117 others(24): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
ATXN10_chr22_45666834_45850307 | 45782967 | TACA | T | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00738.hp2 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0091 a0001c0001t0001g0114 a0001c0001t0002g0045 others(28): Show |
31 | 316 | 0.0981 | -3 | c.117 others(24): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
ATXN10_chr22_45666834_45850307 | 45817318 | CTTT | C | intron_variant | MODIFIER | HG02572.hp1 HG02818.hp1 HG03540.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009 | a0001c0001t0002g0108 a0001c0001t0002g0130 a0001c0001t0002g0131 others(3): Show |
6 | 316 | 0.0190 | -3 | c.123 others(24): Show |
ATXN10 | ENSG00000130638.18 | transcript | ENST00000252934.10 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
ATXN1L_chr16_71840976_71862328 | 71858078 | GTTT | G | downstream_gene_variant | MODIFIER | HG01891.hp1 HG02109.hp1 HG02258.hp1 others(8): Show |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0012 a0001c0003t0003g0023 a0001c0003t0003g0038 |
11 | 418 | 0.0263 | -3 | c.*62 others(14): Show |
ATXN1L | ENSG00000224470.9 | transcript | ENST00000427980.7 | protein_coding | 751 | chr16 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16323525 | CAAA | C | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00438.hp1 others(29): Show |
a0001a0004a0005others(11): Show | a0001c0052a0004c0015a0004c0023others(16): Show | a0001c0052t0047a0004c0015t0001a0004c0023t0002others(24): Show | a0001c0052t0047g0060 a0004c0015t0001g0157 a0004c0023t0002g0035 others(29): Show |
32 | 182 | 0.1758 | -3 | c.191 others(22): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 7/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16323553 | AAAT | A | intron_variant | MODIFIER | HG00408.hp1 HG00597.hp2 HG02132.hp2 others(6): Show |
a0004a0019 | a0004c0005a0004c0041a0019c0020 | a0004c0005t0002a0004c0041t0001a0019c0020t0032 | a0004c0005t0002g0072 a0004c0005t0002g0075 a0004c0005t0002g0096 others(6): Show |
9 | 182 | 0.0495 | -3 | c.191 others(22): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 7/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16327633 | GTGC | G | disruptive_inframe_deletion | MODERATE | HG00140.hp2 HG00423.hp1 HG00609.hp1 others(13): Show |
a0008a0013a0016others(3): Show | a0008c0012a0008c0024a0013c0013others(5): Show | a0008c0012t0005a0008c0024t0001a0013c0013t0005others(7): Show | a0008c0012t0005g0078 a0008c0012t0005g0091 a0008c0012t0005g0092 others(13): Show |
16 | 182 | 0.0879 | -3 | c.675 others(10): Show |
p.Gln others(6): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 7/8 | 1569/10557 | 675/2448 | 225/815 | chr6 | TogoVar | |||
ATXN1_chr6_16294112_16766460 | 16330390 | CTTT | C | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00597.hp1 others(26): Show |
a0001a0002a0031others(1): Show | a0001c0001a0002c0002a0002c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0029others(13): Show | a0001c0001t0001g0178 a0001c0001t0002g0020 a0001c0001t0002g0129 others(26): Show |
29 | 182 | 0.1593 | -3 | c.-16 others(22): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16368527 | ATCT | A | intron_variant | MODIFIER | HG01255.hp2 HG01261.hp2 HG01884.hp2 others(22): Show |
a0002a0005a0006others(6): Show | a0002c0002a0005c0008a0005c0045others(8): Show | a0002c0002t0001a0005c0008t0002a0005c0045t0018others(14): Show | a0002c0002t0001g0071 a0005c0008t0002g0137 a0005c0045t0018g0059 others(22): Show |
25 | 182 | 0.1374 | -3 | c.-16 others(24): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16390680 | TCAC | T | intron_variant | MODIFIER | HG03130.hp2 HG06807.hp2 |
a0007a0030 | a0007c0059a0030c0057 | a0007c0059t0012a0030c0057t0001 | a0007c0059t0012g0030 a0030c0057t0001g0016 |
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 | 16443208 | CAAA | C | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00642.hp2 others(34): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0011a0002c0004others(19): Show | a0001c0001t0001a0001c0001t0011a0001c0011t0023others(21): Show | a0001c0001t0001g0043 a0001c0001t0001g0105 a0001c0001t0001g0123 others(34): Show |
37 | 182 | 0.2033 | -3 | c.-16 others(24): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16453187 | CATT | C | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(89): Show |
a0001a0002a0003others(18): Show | a0001c0001a0001c0011a0001c0027others(34): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(57): Show | a0001c0001t0001g0037 a0001c0001t0001g0105 a0001c0001t0001g0123 others(89): Show |
92 | 182 | 0.5055 | -3 | c.-16 others(24): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16491277 | ATTT | A | intron_variant | MODIFIER | HG01109.hp2 HG01361.hp1 HG01496.hp1 others(12): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0028a0001c0029others(7): Show | a0001c0001t0020a0001c0001t0030a0001c0028t0015others(10): Show | a0001c0001t0020g0002 a0001c0001t0030g0021 a0001c0028t0015g0017 others(12): Show |
15 | 182 | 0.0824 | -3 | c.-29 others(22): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 5/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16495868 | CTCA | C | intron_variant | MODIFIER | HG01255.hp1 HG01257.hp2 HG01258.hp1 others(22): Show |
a0001a0002a0003others(12): Show | a0001c0001a0002c0004a0003c0003others(14): Show | a0001c0001t0001a0001c0001t0020a0001c0001t0029others(19): Show | a0001c0001t0001g0037 a0001c0001t0001g0045 a0001c0001t0020g0002 others(22): Show |
25 | 182 | 0.1374 | -3 | c.-29 others(22): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 5/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16503020 | TATA | T | intron_variant | MODIFIER | HG01243.hp1 HG02723.hp1 |
a0009a0022 | a0009c0025a0022c0058 | a0009c0025t0033a0022c0058t0018 | a0009c0025t0033g0165 a0022c0058t0018g0054 |
2 | 182 | 0.0110 | -3 | c.-29 others(24): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 5/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16542832 | TAAC | T | intron_variant | MODIFIER | HG00597.hp2 HG00735.hp1 HG02451.hp1 others(12): Show |
a0001a0002a0004others(6): Show | a0001c0001a0002c0002a0002c0004others(8): Show | a0001c0001t0002a0002c0002t0010a0002c0002t0016others(11): Show | a0001c0001t0002g0076 a0002c0002t0010g0015 a0002c0002t0016g0111 others(12): Show |
15 | 182 | 0.0824 | -3 | c.-36 others(24): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 4/7 | chr6 | TogoVar |