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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATRN_chr20_3466018_3656118 | 3610742 | C | CTTT | intron_variant | MODIFIER | HG01071.hp2 HG01884.hp2 HG01891.hp2 others(12): Show |
a0001a0002a0007others(1): Show | a0001c0001a0001c0002a0002c0004others(3): Show | a0001c0001t0005a0001c0001t0033a0001c0002t0004others(6): Show | a0001c0001t0005g0080 a0001c0001t0033g0094 a0001c0002t0004g0097 others(12): Show |
15 | 167 | 0.0898 | 3 | c.380 others(22): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 24/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ATRN_chr20_3466018_3656118 | 3618842 | G | GGTT | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00738.hp2 others(105): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0003others(18): Show | a0001c0001t0010a0001c0001t0012a0001c0001t0014others(44): Show | a0001c0001t0010g0011 a0001c0001t0010g0025 a0001c0001t0010g0096 others(105): Show |
108 | 218 | 0.4954 | 3 | c.380 others(22): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 24/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ATRN_chr20_3466018_3656118 | 3626781 | C | CTTT | intron_variant | MODIFIER | HG02559.hp1 HG02572.hp2 HG03041.hp1 others(5): Show |
a0001a0002a0013 | a0001c0001a0001c0007a0001c0013others(2): Show | a0001c0001t0012a0001c0007t0006a0001c0013t0026others(2): Show | a0001c0001t0012g0115 a0001c0001t0012g0133 a0001c0007t0006g0201 others(5): Show |
8 | 48 | 0.1667 | 3 | c.386 others(22): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 25/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ATRN_chr20_3466018_3656118 | 3641590 | C | CAAA | intron_variant | MODIFIER | HG00099.hp1 HG00738.hp2 HG00741.hp1 others(37): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0007others(6): Show | a0001c0001t0023a0001c0002t0003a0001c0002t0004others(13): Show | a0001c0001t0023g0087 a0001c0002t0003g0038 a0001c0002t0003g0045 others(37): Show |
40 | 92 | 0.4348 | 3 | c.405 others(22): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 27/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77634232 | T | TAAA | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(89): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0084 a0001c0001t0001g0197 a0001c0001t0001g0198 others(89): Show |
92 | 154 | 0.5974 | 3 | c.480 others(20): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 17/34 | chrX | TogoVar | |||||||
ATRX_chrX_77499880_77791216 | 77636896 | A | AAAG | intron_variant | MODIFIER | HG02257.hp2 HG02717.hp1 HG02809.hp1 others(3): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0159 a0001c0001t0001g0197 a0001c0001t0002g0157 others(3): Show |
6 | 216 | 0.0278 | 3 | c.455 others(20): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 15/34 | chrX | TogoVar | |||||||
ATRX_chrX_77499880_77791216 | 77651217 | C | CAAA | intron_variant | MODIFIER | HG00280.hp1 HG00597.hp2 HG01070.hp2 others(28): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004 | a0001c0001t0002a0001c0001t0003a0001c0001t0010others(7): Show | a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 others(28): Show |
31 | 47 | 0.6596 | 3 | c.455 others(20): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 15/34 | chrX | TogoVar | |||||||
ATRX_chrX_77499880_77791216 | 77671167 | A | ATAT | intron_variant | MODIFIER | HG02040.hp1 HG02280.hp1 NA18947.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010 | a0001c0001t0002g0115 a0001c0001t0002g0156 a0001c0001t0002g0211 others(1): Show |
4 | 66 | 0.0606 | 3 | c.380 others(22): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 10/34 | chrX | TogoVar | |||||||
ATRX_chrX_77499880_77791216 | 77702444 | A | AAAT | intron_variant | MODIFIER | HG00558.hp1 HG01975.hp2 HG02015.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0002g0140 a0001c0001t0002g0184 a0001c0001t0003g0182 others(12): Show |
15 | 216 | 0.0694 | 3 | c.134 others(20): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 2/34 | chrX | TogoVar | |||||||
ATRX_chrX_77499880_77791216 | 77716110 | A | ATTT | intron_variant | MODIFIER | HG01070.hp1 HG02165.hp1 HG02165.hp2 others(10): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0100 a0001c0001t0001g0117 a0001c0001t0001g0124 others(10): Show |
13 | 90 | 0.1444 | 3 | c.133 others(20): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 2/34 | chrX | TogoVar | |||||||
ATRX_chrX_77499880_77791216 | 77716319 | A | ATAT | intron_variant | MODIFIER | HG00280.hp1 HG02083.hp1 NA19056.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0018 a0002c0002t0001g0061 a0002c0002t0001g0062 others(1): Show |
4 | 204 | 0.0196 | 3 | c.133 others(18): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 2/34 | chrX | TogoVar | |||||||
ATRX_chrX_77499880_77791216 | 77716321 | A | ATAT | intron_variant | MODIFIER | HG00140.hp1 HG00597.hp2 HG01081.hp1 others(25): Show |
a0002 | a0002c0002a0002c0004 | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(3): Show | a0002c0002t0001g0009 a0002c0002t0001g0011 a0002c0002t0001g0015 others(25): Show |
28 | 176 | 0.1591 | 3 | c.133 others(18): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 2/34 | chrX | TogoVar | |||||||
ATRX_chrX_77499880_77791216 | 77716323 | A | ATAT | intron_variant | MODIFIER | HG01070.hp2 HG01516.hp2 HG01517.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0001c0001t0010a0002c0002t0001others(3): Show | a0001c0001t0004g0188 a0001c0001t0010g0082 a0002c0002t0001g0007 others(5): Show |
8 | 93 | 0.0860 | 3 | c.133 others(18): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 2/34 | chrX | TogoVar | |||||||
ATRX_chrX_77499880_77791216 | 77735834 | A | AAAT | intron_variant | MODIFIER | HG00558.hp1 HG01167.hp1 HG02015.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0002g0140 a0001c0001t0002g0184 a0001c0001t0002g0187 others(14): Show |
17 | 215 | 0.0791 | 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 | a0002c0002t0001g0009 a0002c0002t0001g0017 a0002c0002t0001g0021 others(14): Show |
17 | 42 | 0.4048 | 3 | c.21- 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 |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0084 a0001c0001t0001g0100 a0001c0001t0002g0071 others(15): Show |
18 | 72 | 0.2500 | 3 | c.20+ others(18): 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 | a0001c0004t0001g0154 a0001c0004t0001g0203 a0001c0004t0001g0204 others(47): Show |
51 | 317 | 0.1609 | 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 |
a0001a0006a0009others(1): Show | a0001c0006a0006c0012a0009c0014others(1): Show | a0001c0006t0001a0006c0012t0001a0009c0014t0001others(1): Show | a0001c0006t0001g0008 a0001c0006t0001g0009 a0001c0006t0001g0010 others(16): Show |
19 | 320 | 0.0594 | 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 | a0001c0006t0001g0008 a0001c0006t0001g0009 a0001c0006t0001g0011 others(7): Show |
10 | 161 | 0.0621 | 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 | a0001c0001t0001g0001 a0001c0001t0001g0035 a0001c0001t0001g0037 others(25): Show |
29 | 180 | 0.1611 | 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 | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0035 others(37): Show |
40 | 136 | 0.2941 | 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 | a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0274 others(1): Show |
4 | 314 | 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 | a0001c0001t0001g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 others(3): Show |
6 | 278 | 0.0216 | 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(81): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(1): Show | a0001c0001t0001g0032 a0001c0001t0001g0036 a0001c0001t0001g0037 others(81): Show |
84 | 197 | 0.4264 | 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 | a0001c0001t0001g0156 a0001c0001t0001g0257 a0001c0001t0001g0259 others(2): Show |
5 | 82 | 0.0610 | 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 | a0001c0001t0001g0015 a0001c0001t0002g0002 a0001c0001t0002g0030 others(4): Show |
10 | 119 | 0.0840 | 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 | a0001c0001t0003g0005 a0001c0001t0003g0039 a0001c0001t0003g0041 others(3): Show |
21 | 363 | 0.0579 | 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 |
a0001a0002 | a0001c0012a0002c0003a0002c0004others(1): Show | a0001c0012t0006a0002c0003t0031a0002c0004t0006others(1): Show | a0001c0012t0006g0008 a0001c0012t0006g0014 a0001c0012t0006g0052 others(5): Show |
8 | 180 | 0.0444 | 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(3): Show | a0001c0001a0001c0008a0001c0012others(16): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0010others(39): Show | a0001c0001t0002g0020 a0001c0001t0002g0076 a0001c0001t0002g0077 others(68): Show |
71 | 132 | 0.5379 | 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 |
a0001 | a0001c0001a0001c0008a0001c0010others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(28): Show | a0001c0001t0001g0037 a0001c0001t0001g0043 a0001c0001t0001g0045 others(53): Show |
56 | 97 | 0.5773 | 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(34): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0008a0001c0010others(13): Show | a0001c0001t0010a0001c0008t0002a0001c0008t0010others(21): Show | a0001c0001t0010g0128 a0001c0008t0002g0013 a0001c0008t0002g0137 others(34): Show |
37 | 142 | 0.2606 | 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 |
a0001a0003a0005 | a0001c0032a0003c0013a0005c0016others(1): Show | a0001c0032t0018a0003c0013t0002a0005c0016t0001others(1): Show | a0001c0032t0018g0059 a0003c0013t0002g0029 a0005c0016t0001g0025 others(2): Show |
5 | 55 | 0.0909 | 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 |
a0001a0002a0003 | a0001c0010a0002c0004a0002c0031others(2): Show | a0001c0010t0023a0002c0004t0003a0002c0031t0010others(2): Show | a0001c0010t0023g0023 a0002c0004t0003g0051 a0002c0031t0010g0173 others(2): Show |
5 | 67 | 0.0746 | 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 |
a0001a0002a0003others(2): Show | a0001c0001a0001c0008a0001c0010others(12): Show | a0001c0001t0001a0001c0008t0002a0001c0008t0010others(18): Show | a0001c0001t0001g0103 a0001c0008t0002g0013 a0001c0008t0010g0038 others(20): Show |
23 | 51 | 0.4510 | 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 |
a0001a0002a0005 | a0001c0008a0001c0010a0001c0019others(2): Show | a0001c0008t0010a0001c0010t0004a0001c0019t0001others(2): Show | a0001c0008t0010g0038 a0001c0010t0004g0050 a0001c0019t0001g0024 others(2): Show |
5 | 67 | 0.0746 | 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 |
a0002a0005 | a0002c0011a0005c0028 | a0002c0011t0042a0005c0028t0003 | a0002c0011t0042g0026 a0005c0028t0003g0149 |
2 | 180 | 0.0111 | 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(2): Show | a0001c0001a0001c0012a0002c0031others(4): Show | a0001c0001t0011a0001c0012t0006a0002c0031t0010others(5): Show | a0001c0001t0011g0131 a0001c0012t0006g0014 a0001c0012t0006g0112 others(8): Show |
11 | 53 | 0.2075 | 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(1): Show | a0001c0008a0001c0019a0001c0020others(5): Show | a0001c0008t0011a0001c0019t0001a0001c0020t0015others(5): Show | a0001c0008t0011g0053 a0001c0019t0001g0107 a0001c0020t0015g0017 others(5): Show |
8 | 23 | 0.3478 | 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(3): Show | a0001c0001a0001c0008a0001c0010others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0008t0001others(30): Show | a0001c0001t0001g0037 a0001c0001t0001g0045 a0001c0001t0001g0083 others(41): Show |
44 | 110 | 0.4000 | 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(2): Show | a0001c0001a0001c0012a0001c0019others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0029others(24): Show | a0001c0001t0001g0037 a0001c0001t0001g0103 a0001c0001t0001g0178 others(39): Show |
42 | 111 | 0.3784 | 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 |
a0001a0002a0003 | a0001c0001a0001c0012a0001c0032others(9): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0030others(11): Show | a0001c0001t0001g0043 a0001c0001t0010g0128 a0001c0001t0030g0021 others(12): Show |
15 | 178 | 0.0843 | 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 |
a0001a0002 | a0001c0008a0002c0004a0002c0011 | a0001c0008t0011a0002c0004t0003a0002c0011t0007 | a0001c0008t0011g0053 a0002c0004t0003g0070 a0002c0011t0007g0019 |
3 | 180 | 0.0167 | 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 |
a0002a0003a0004others(1): Show | a0002c0004a0003c0002a0003c0009others(3): Show | a0002c0004t0002a0003c0002t0008a0003c0009t0001others(3): Show | a0002c0004t0002g0056 a0003c0002t0008g0116 a0003c0009t0001g0073 others(3): Show |
6 | 87 | 0.0690 | 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 |
a0001a0003a0004others(1): Show | a0001c0001a0001c0010a0003c0009others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0010t0023others(5): Show | a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0002g0076 others(7): Show |
10 | 84 | 0.1190 | 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 |
a0001a0002a0003others(1): Show | a0001c0012a0002c0003a0002c0004others(3): Show | a0001c0012t0006a0002c0003t0009a0002c0003t0033others(6): Show | a0001c0012t0006g0112 a0002c0003t0009g0055 a0002c0003t0033g0165 others(7): Show |
10 | 162 | 0.0617 | 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 |
a0001a0002a0003others(2): Show | a0001c0001a0001c0041a0002c0003others(8): Show | a0001c0001t0001a0001c0001t0011a0001c0041t0036others(11): Show | a0001c0001t0001g0037 a0001c0001t0011g0131 a0001c0041t0036g0095 others(12): Show |
15 | 45 | 0.3333 | 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 |
a0001a0002a0004 | a0001c0001a0001c0020a0002c0004others(3): Show | a0001c0001t0002a0001c0020t0015a0002c0004t0003others(4): Show | a0001c0001t0002g0076 a0001c0020t0015g0017 a0002c0004t0003g0051 others(5): Show |
8 | 122 | 0.0656 | 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(3): Show | a0001c0001a0001c0008a0001c0010others(29): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(66): Show | a0001c0001t0001g0045 a0001c0001t0001g0105 a0001c0001t0001g0123 others(110): Show |
113 | 167 | 0.6766 | 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(2): Show | a0001c0001a0001c0008a0001c0010others(11): Show | a0001c0001t0011a0001c0008t0002a0001c0008t0046others(15): Show | a0001c0001t0011g0131 a0001c0008t0002g0013 a0001c0008t0046g0062 others(16): Show |
19 | 115 | 0.1652 | 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 |
a0001a0003 | a0001c0001a0003c0002a0003c0009others(1): Show | a0001c0001t0001a0003c0002t0041a0003c0009t0001others(1): Show | a0001c0001t0001g0159 a0003c0002t0041g0079 a0003c0009t0001g0182 others(1): Show |
4 | 180 | 0.0222 | 3 | c.-61 others(24): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar |