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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATXN1_chr6_16294112_16766460 | 16429377 | T | TAAAAA | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG00597.hp1 others(21): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0010a0001c0041others(11): Show | a0001c0001t0001a0001c0001t0029a0001c0010t0004others(18): Show | a0001c0001t0001g0103 a0001c0001t0029g0145 a0001c0010t0004g0050 others(21): Show |
24 | 92 | 0.2609 | 5 | c.-16 others(26): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16439390 | T | TTGGGG | intron_variant | MODIFIER | HG00642.hp1 HG01255.hp2 HG01361.hp1 others(9): Show |
a0001a0002a0003 | a0001c0008a0001c0012a0002c0003others(4): Show | a0001c0008t0002a0001c0008t0046a0001c0012t0039others(9): Show | a0001c0008t0002g0137 a0001c0008t0046g0062 a0001c0012t0039g0041 others(9): Show |
12 | 180 | 0.0667 | 5 | c.-16 others(26): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16454125 | C | CAAAAA | intron_variant | MODIFIER | HG02135.hp2 HG02723.hp1 HG02735.hp2 others(4): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0041a0002c0003others(3): Show | a0001c0001t0029a0001c0041t0036a0002c0003t0033others(4): Show | a0001c0001t0029g0145 a0001c0041t0036g0095 a0002c0003t0033g0165 others(4): Show |
7 | 49 | 0.1429 | 5 | c.-16 others(26): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16540277 | T | TCTCGG | intron_variant | MODIFIER | HG00642.hp2 HG00735.hp1 HG02451.hp2 others(10): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0008a0001c0020others(5): Show | a0001c0001t0002a0001c0001t0011a0001c0008t0010others(8): Show | a0001c0001t0002g0076 a0001c0001t0011g0131 a0001c0008t0010g0038 others(10): Show |
13 | 180 | 0.0722 | 5 | c.-36 others(26): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 4/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16579480 | G | GCCCCC | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00609.hp2 others(22): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0010a0001c0019others(11): Show | a0001c0001t0001a0001c0001t0029a0001c0001t0030others(18): Show | a0001c0001t0001g0105 a0001c0001t0001g0178 a0001c0001t0029g0145 others(22): Show |
25 | 99 | 0.2525 | 5 | c.-36 others(24): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 4/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16640828 | G | GCTGAC | intron_variant | MODIFIER | HG01261.hp2 NA18522.hp1 |
a0003 | a0003c0002a0003c0013 | a0003c0002t0001a0003c0013t0007 | a0003c0002t0001g0071 a0003c0013t0007g0011 |
2 | 180 | 0.0111 | 5 | c.-48 others(26): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 3/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16753898 | T | TTTAAA | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(133): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0008a0001c0010others(30): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(74): Show | a0001c0001t0001g0037 a0001c0001t0001g0043 a0001c0001t0001g0045 others(133): Show |
136 | 180 | 0.7556 | 5 | c.-72 others(22): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16759530 | G | GTTTTT | intron_variant | MODIFIER | HG00408.hp2 HG00597.hp2 HG02486.hp1 others(5): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0012a0002c0004others(3): Show | a0001c0001t0002a0001c0012t0006a0002c0004t0003others(3): Show | a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0012t0006g0052 others(5): Show |
8 | 81 | 0.0988 | 5 | c.-73 others(24): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
ATXN2L_chr16_28817999_28842232 | 28831263 | G | GGTTGT | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp1 HG00642.hp2 others(67): Show |
a0001a0004 | a0001c0001a0001c0013a0001c0021others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(5): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0020 others(20): Show |
70 | 380 | 0.1842 | 5 | c.132 others(22): Show |
ATXN2L | ENSG00000168488.19 | transcript | ENST00000336783.9 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ATXN2_chr12_111447214_111604315 | 111461472 | A | AAAAAT | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
a0003a0004a0005others(5): Show | a0003c0004a0003c0005a0003c0006others(8): Show | a0003c0004t0003a0003c0004t0005a0003c0004t0008others(10): Show | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | 296 | 0.1385 | 5 | c.289 others(24): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111468696 | C | CTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG01243.hp1 HG02071.hp2 others(7): Show |
a0001a0003 | a0001c0003a0001c0026a0003c0005 | a0001c0003t0001a0001c0003t0003a0001c0026t0001others(1): Show | a0001c0003t0001g0165 a0001c0003t0001g0194 a0001c0003t0001g0206 others(7): Show |
10 | 110 | 0.0909 | 5 | c.284 others(24): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111483410 | C | CAAAAA | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp1 HG02280.hp1 others(13): Show |
a0003a0005a0011 | a0003c0004a0003c0006a0005c0023others(1): Show | a0003c0004t0003a0003c0004t0005a0003c0004t0008others(3): Show | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(13): Show |
16 | 175 | 0.0914 | 5 | c.252 others(24): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111553601 | A | ATTTTT | intron_variant | MODIFIER | HG00544.hp2 HG00597.hp1 HG01256.hp1 others(41): Show |
a0002 | a0002c0002a0002c0016 | a0002c0002t0001a0002c0002t0003a0002c0016t0001 | a0002c0002t0001g0026 a0002c0002t0001g0030 a0002c0002t0001g0031 others(41): Show |
44 | 238 | 0.1849 | 5 | c.348 others(20): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111553603 | A | ATTTTT | intron_variant | MODIFIER | HG00642.hp2 HG01361.hp2 HG02027.hp2 others(20): Show |
a0001a0003a0007 | a0001c0003a0001c0007a0003c0005others(1): Show | a0001c0003t0001a0001c0003t0003a0001c0007t0007others(2): Show | a0001c0003t0001g0140 a0001c0003t0001g0145 a0001c0003t0001g0150 others(20): Show |
23 | 140 | 0.1643 | 5 | c.348 others(20): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111576085 | A | AATAAC | intron_variant | MODIFIER | HG00408.hp2 HG02027.hp2 HG02074.hp2 others(12): Show |
a0001a0003a0007 | a0001c0003a0003c0005a0007c0011 | a0001c0003t0001a0001c0003t0003a0003c0005t0001others(1): Show | a0001c0003t0001g0139 a0001c0003t0001g0154 a0001c0003t0001g0156 others(12): Show |
15 | 263 | 0.0570 | 5 | c.252 others(24): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111576140 | C | CACCAA | intron_variant | MODIFIER | HG00544.hp1 HG01167.hp2 HG01169.hp1 others(19): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0019others(2): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(4): Show | a0001c0001t0002g0217 a0001c0001t0002g0225 a0001c0001t0002g0233 others(19): Show |
22 | 151 | 0.1457 | 5 | c.252 others(24): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111588991 | C | CAAAAA | intron_variant | MODIFIER | HG00544.hp1 HG01167.hp2 HG01169.hp1 others(13): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0002a0001c0001t0006a0001c0003t0003others(1): Show | a0001c0001t0002g0233 a0001c0001t0002g0248 a0001c0001t0002g0258 others(13): Show |
16 | 39 | 0.4103 | 5 | c.251 others(22): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105600451 | C | CAGAGA | downstream_gene_variant | MODIFIER | HG00642.hp2 HG00738.hp2 HG00741.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0010others(1): Show | a0001c0001t0002g0059 a0001c0001t0002g0118 a0001c0001t0007g0022 others(3): Show |
6 | 248 | 0.0242 | 5 | c.*74 others(16): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 4320 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105605042 | C | CTTTTT | 3_prime_UTR_variant | MODIFIER | HG00673.hp2 HG00735.hp1 HG00735.hp2 others(34): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0004a0001c0001t0010a0001c0001t0012others(6): Show | a0001c0001t0004g0023 a0001c0001t0004g0039 a0001c0001t0004g0084 others(34): Show |
37 | 145 | 0.2552 | 5 | c.*28 others(16): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 12/12 | 2809 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105605043 | T | TTTTTC | 3_prime_UTR_variant | MODIFIER | HG01346.hp1 HG01433.hp1 HG01433.hp2 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0009a0001c0001t0019others(1): Show | a0001c0001t0003g0002 a0001c0001t0003g0010 a0001c0001t0003g0016 others(31): Show |
34 | 250 | 0.1360 | 5 | c.*28 others(16): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 12/12 | 2808 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105619140 | G | GTTTTT | intron_variant | MODIFIER | HG01515.hp2 HG02015.hp1 HG02155.hp1 others(13): Show |
a0001a0006 | a0001c0001a0006c0009 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(8): Show | a0001c0001t0002g0181 a0001c0001t0002g0201 a0001c0001t0004g0123 others(13): Show |
16 | 26 | 0.6154 | 5 | c.151 others(24): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 9/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105619531 | T | TATATA | intron_variant | MODIFIER | HG01516.hp2 HG01517.hp1 HG02735.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0024 | a0001c0001t0001g0004 a0001c0001t0002g0080 a0001c0001t0002g0081 others(2): Show |
5 | 226 | 0.0221 | 5 | c.151 others(22): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 9/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105624649 | C | CAAAAA | intron_variant | MODIFIER | HG01981.hp1 HG02083.hp2 HG02135.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0009a0001c0001t0013others(4): Show | a0001c0001t0003g0056 a0001c0001t0003g0187 a0001c0001t0009g0020 others(5): Show |
8 | 16 | 0.5000 | 5 | c.120 others(22): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 7/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105641214 | C | CTTTTT | intron_variant | MODIFIER | HG02723.hp2 HG02818.hp2 HG02895.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0016a0002c0002t0017others(1): Show | a0001c0001t0001g0155 a0002c0002t0016g0066 a0002c0002t0016g0220 others(3): Show |
6 | 33 | 0.1818 | 5 | c.862 others(22): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 5/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105656576 | C | CTTTTT | intron_variant | MODIFIER | HG00558.hp2 HG00642.hp1 HG00642.hp2 others(79): Show |
a0001a0002a0007 | a0001c0001a0001c0004a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0006 a0001c0001t0001g0030 a0001c0001t0001g0050 others(79): Show |
82 | 222 | 0.3694 | 5 | c.578 others(22): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 4/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105722560 | T | TAAAAA | intron_variant | MODIFIER | HG00738.hp2 HG01109.hp1 HG01261.hp1 others(28): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0045 a0001c0001t0001g0071 a0001c0001t0001g0251 others(28): Show |
31 | 50 | 0.6200 | 5 | c.356 others(24): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105722888 | G | GAAATA | intron_variant | MODIFIER | HG01167.hp1 HG01433.hp1 HG01515.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0012 | a0001c0001t0001g0243 a0001c0001t0003g0239 a0001c0001t0012g0232 |
3 | 241 | 0.0124 | 5 | c.356 others(24): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105731748 | A | AAAAAG | intron_variant | MODIFIER | HG00642.hp2 HG01257.hp1 HG02280.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(1): Show | a0001c0001t0001g0144 a0001c0001t0002g0059 a0001c0001t0002g0205 others(3): Show |
6 | 57 | 0.1053 | 5 | c.355 others(24): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105790674 | A | ATCTAT | intron_variant | MODIFIER | HG01978.hp1 HG02083.hp2 NA19060.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0008others(2): Show | a0001c0001t0003g0056 a0001c0001t0006g0248 a0001c0001t0008g0094 others(2): Show |
5 | 20 | 0.2500 | 5 | c.251 others(22): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 2/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105829267 | C | CAAACA | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00558.hp1 others(120): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0007others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0015 a0001c0001t0001g0043 a0001c0001t0001g0073 others(120): Show |
123 | 249 | 0.4940 | 5 | c.251 others(24): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 2/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105835149 | G | GTTTTT | intron_variant | MODIFIER | HG00741.hp1 HG01109.hp2 HG01175.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007a0001c0001t0008others(4): Show | a0001c0001t0003g0239 a0001c0001t0003g0245 a0001c0001t0007g0167 others(6): Show |
9 | 15 | 0.6000 | 5 | c.250 others(24): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 2/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105875627 | A | ACCCCC | intron_variant | MODIFIER | HG01496.hp2 HG01981.hp1 HG02135.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0011 others(23): Show |
26 | 79 | 0.3291 | 5 | c.250 others(20): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 2/11 | chr7 | TogoVar | |||||||
ATXN7_chr3_63858867_64008462 | 63863937 | A | AGCCGC | 5_prime_UTR_variant | MODIFIER | HG01257.hp2 HG01258.hp1 HG01261.hp2 |
a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0001 a0001c0001t0015g0073 |
3 | 298 | 0.0101 | 5 | c.-31 others(14): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 1/13 | 48641 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATXN7_chr3_63858867_64008462 | 63893822 | G | GTAGCA | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(110): Show |
a0001a0002a0004others(4): Show | a0001c0001a0002c0003a0004c0010others(6): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(17): Show | a0001c0001t0001g0005 a0001c0001t0001g0022 a0001c0001t0001g0023 others(108): Show |
113 | 298 | 0.3792 | 5 | c.-11 others(24): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATXN7_chr3_63858867_64008462 | 63952835 | C | CTTTTT | intron_variant | MODIFIER | HG00423.hp1 HG02055.hp1 HG02056.hp2 others(11): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0002c0003others(5): Show | a0001c0001t0002a0002c0002t0002a0002c0003t0002others(6): Show | a0001c0001t0002g0225 a0002c0002t0002g0070 a0002c0002t0002g0208 others(11): Show |
14 | 79 | 0.1772 | 5 | c.499 others(20): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
AUNIP_chr1_25829006_25864457 | 25851726 | C | CTCTTA | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp1 HG00639.hp2 others(78): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(12): Show | a0001c0001t0002g0011 a0001c0001t0002g0020 a0001c0001t0002g0050 others(62): Show |
81 | 350 | 0.2314 | 5 | c.78+ others(20): Show |
AUNIP | ENSG00000127423.11 | transcript | ENST00000374298.4 | protein_coding | 1/2 | chr1 | TogoVar | |||||||
AURKB_chr17_8199734_8215575 | 8208632 | A | ATAAAT | intron_variant | MODIFIER | HG00423.hp1 HG01123.hp1 HG01928.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 a0001c0001t0001g0049 a0001c0001t0001g0050 |
10 | 358 | 0.0279 | 5 | c.49- others(18): Show |
AURKB | ENSG00000178999.13 | transcript | ENST00000585124.6 | protein_coding | 2/8 | chr17 | TogoVar | |||||||
AURKC_chr19_57226023_57240548 | 57233734 | T | TTTTTC | intron_variant | MODIFIER | HG02055.hp1 HG02258.hp1 HG02559.hp2 others(4): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0017 a0001c0001t0001g0044 a0001c0005t0001g0024 others(1): Show |
7 | 408 | 0.0172 | 5 | c.584 others(20): Show |
AURKC | ENSG00000105146.14 | transcript | ENST00000302804.12 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
AURKC_chr19_57226023_57240548 | 57239584 | A | AGAGAG | downstream_gene_variant | MODIFIER | HG02257.hp2 HG02818.hp2 NA19240.hp2 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0011 | 3 | 408 | 0.0074 | 5 | c.*41 others(16): Show |
AURKC | ENSG00000105146.14 | transcript | ENST00000302804.12 | protein_coding | 4037 | chr19 | TogoVar | |||||||
AUTS2_chr7_69593475_70798506 | 69636480 | G | GCCCCC | intron_variant | MODIFIER | HG01934.hp2 HG02055.hp1 HG02630.hp2 others(4): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0011a0001c0001t0028a0001c0001t0034others(4): Show | a0001c0001t0011g0041 a0001c0001t0028g0021 a0001c0001t0034g0018 others(4): Show |
7 | 13 | 0.5385 | 5 | c.309 others(24): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 69671486 | G | GTGTGT | intron_variant | MODIFIER | HG01884.hp2 NA18612.hp1 NA19030.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0010 | a0001c0001t0002g0052 a0001c0001t0002g0062 a0001c0001t0004g0056 others(1): Show |
4 | 30 | 0.1333 | 5 | c.309 others(24): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | chr7 | TogoVar | |||||||
AUTS2_chr7_69593475_70798506 | 69821916 | C | CAAAAA | intron_variant | MODIFIER | HG02055.hp2 HG02886.hp2 HG03540.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0009a0001c0003t0027a0002c0002t0031 | a0001c0001t0009g0006 a0001c0001t0009g0008 a0001c0003t0027g0009 others(1): Show |
4 | 34 | 0.1176 | 5 | c.310 others(24): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 69876349 | A | ATATAT | intron_variant | MODIFIER | HG02717.hp1 HG03041.hp1 NA19240.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0001t0004a0001c0005t0030 | a0001c0001t0002g0062 a0001c0001t0004g0054 a0001c0005t0030g0013 |
3 | 42 | 0.0714 | 5 | c.310 others(24): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | chr7 | TogoVar | |||||||
AUTS2_chr7_69593475_70798506 | 70011314 | T | TCTCTC | intron_variant | MODIFIER | HG00597.hp1 HG00597.hp2 HG01081.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0032 a0001c0001t0001g0036 a0001c0001t0001g0037 others(9): Show |
12 | 30 | 0.4000 | 5 | c.523 others(26): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70053544 | G | GTTTTT | intron_variant | MODIFIER | HG00741.hp1 HG01081.hp1 HG01433.hp1 others(13): Show |
a0001a0004 | a0001c0001a0001c0003a0004c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(7): Show | a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0037 others(13): Show |
16 | 43 | 0.3721 | 5 | c.523 others(24): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70224331 | G | GTACAA | intron_variant | MODIFIER | HG00280.hp2 HG02717.hp1 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0021 | a0001c0001t0002g0047 a0001c0001t0004g0054 a0001c0001t0021g0060 |
3 | 13 | 0.2308 | 5 | c.660 others(24): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70338833 | C | CTTTAT | intron_variant | MODIFIER | HG01952.hp2 HG02165.hp2 HG02630.hp1 others(3): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0001g0032 a0001c0001t0003g0033 a0001c0001t0005g0005 others(3): Show |
6 | 11 | 0.5455 | 5 | c.661 others(24): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70413665 | C | CTTGTT | intron_variant | MODIFIER | HG01081.hp2 HG01175.hp2 HG01952.hp2 others(17): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(13): Show | a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0003g0033 others(17): Show |
20 | 76 | 0.2632 | 5 | c.661 others(24): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70616753 | G | GTTTTT | intron_variant | MODIFIER | HG01081.hp1 HG01175.hp2 HG01433.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(1): Show | a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0003g0033 others(3): Show |
6 | 43 | 0.1395 | 5 | c.691 others(24): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70626246 | A | AGGTGT | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG01081.hp1 others(24): Show |
a0001a0002 | a0001c0001a0001c0008a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 others(24): Show |
27 | 76 | 0.3553 | 5 | c.691 others(24): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |