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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATXN2_chr12_111447214_111604315 | 111584377 | CAAAAAA | C | intron_variant | MODIFIER | HG01975.hp1 HG02559.hp2 HG03540.hp1 others(7): Show |
a0002a0012 | a0002c0002a0012c0014 | a0002c0002t0001a0012c0014t0003 | a0002c0002t0001g0035 a0002c0002t0001g0038 a0002c0002t0001g0055 others(7): Show |
10 | 29 | 0.3448 | -6 | c.251 others(25): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | TogoVar | |||||||
ATXN3_chr14_92053552_92111582 | 92054874 | GTTTGTT | G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00423.hp1 others(136): Show |
a0003a0004a0006others(26): Show | a0003c0026a0004c0003a0006c0005others(37): Show | a0003c0026t0017a0004c0003t0001a0004c0003t0020others(51): Show | a0003c0026t0017g0020 a0003c0026t0017g0021 a0003c0026t0017g0022 others(133): Show |
139 | 400 | 0.3475 | -6 | c.*94 others(17): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 3677 | chr14 | TogoVar | |||||||
ATXN3_chr14_92053552_92111582 | 92093045 | ATTTATT | A | intron_variant | MODIFIER | HG02809.hp1 HG02970.hp2 HG03486.hp1 others(2): Show |
a0005 | a0005c0006 | a0005c0006t0019a0005c0006t0075 | a0005c0006t0019g0007 a0005c0006t0019g0193 a0005c0006t0019g0195 others(1): Show |
5 | 400 | 0.0125 | -6 | c.387 others(21): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 5/10 | chr14 | TogoVar | |||||||
ATXN3_chr14_92053552_92111582 | 92103302 | AAATAAG | A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00642.hp2 others(60): Show |
a0002a0004a0005others(8): Show | a0002c0002a0002c0007a0004c0003others(11): Show | a0002c0002t0003a0002c0002t0066a0002c0007t0004others(17): Show | a0002c0002t0003g0011 a0002c0002t0003g0012 a0002c0002t0003g0347 others(57): Show |
63 | 400 | 0.1575 | -6 | c.24+ others(21): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 1/10 | chr14 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105662053 | TCCTTCC | T | intron_variant | MODIFIER | HG00280.hp2 HG00642.hp1 HG00738.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006 | a0001c0001t0001g0076 a0001c0001t0001g0086 a0001c0001t0001g0236 others(2): Show |
5 | 246 | 0.0203 | -6 | c.578 others(23): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 4/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105685044 | GATAATA | G | intron_variant | MODIFIER | HG00642.hp2 HG00735.hp1 HG01168.hp1 others(10): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0050 a0001c0001t0001g0070 a0001c0001t0001g0071 others(10): Show |
13 | 53 | 0.2453 | -6 | c.356 others(25): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105710401 | CTTTTTT | C | intron_variant | MODIFIER | HG00673.hp2 HG00735.hp2 HG01167.hp2 others(31): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0004a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0011 a0001c0001t0001g0119 a0001c0001t0001g0129 others(31): Show |
34 | 67 | 0.5075 | -6 | c.356 others(25): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105716665 | GCACACA | G | intron_variant | MODIFIER | HG00280.hp2 HG00673.hp1 HG01099.hp1 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0045 a0001c0001t0001g0144 a0001c0001t0001g0249 others(29): Show |
32 | 47 | 0.6809 | -6 | c.356 others(25): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105722560 | TAAAAAA | T | intron_variant | MODIFIER | HG00558.hp2 HG01099.hp1 HG01433.hp2 others(31): Show |
a0001a0002 | a0001c0001a0001c0008a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0029 a0001c0001t0001g0050 a0001c0001t0001g0216 others(31): Show |
34 | 53 | 0.6415 | -6 | c.356 others(25): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105724573 | CAAAAAA | C | intron_variant | MODIFIER | HG00735.hp2 HG02135.hp2 HG02523.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0007a0001c0001t0010others(4): Show | a0001c0001t0004g0039 a0001c0001t0007g0116 a0001c0001t0010g0032 others(4): Show |
7 | 55 | 0.1273 | -6 | c.356 others(25): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105727773 | TATATAC | T | intron_variant | MODIFIER | HG02965.hp1 HG03041.hp2 HG03130.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0023a0001c0001t0040 | a0001c0001t0001g0075 a0001c0001t0001g0218 a0001c0001t0023g0134 others(1): Show |
4 | 250 | 0.0160 | -6 | c.355 others(25): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105748116 | CAAAAAA | C | intron_variant | MODIFIER | HG00673.hp1 HG00738.hp1 HG01168.hp1 others(19): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0241 others(19): Show |
22 | 49 | 0.4490 | -6 | c.355 others(25): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105771201 | GATAATA | G | intron_variant | MODIFIER | HG00673.hp1 HG01074.hp1 HG01257.hp2 others(45): Show |
a0001a0005 | a0001c0001a0001c0008a0005c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0057 a0001c0001t0001g0147 a0001c0001t0001g0170 others(45): Show |
48 | 67 | 0.7164 | -6 | c.355 others(25): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105845204 | CAAAAAA | C | intron_variant | MODIFIER | HG00741.hp2 HG01167.hp1 HG01168.hp1 others(30): Show |
a0001 | a0001c0001a0001c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0011 others(30): Show |
33 | 67 | 0.4925 | -6 | c.250 others(25): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 2/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105860142 | TATATAC | T | intron_variant | MODIFIER | HG00642.hp2 HG01167.hp2 HG01169.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0070 a0001c0001t0001g0119 a0001c0001t0001g0129 others(10): Show |
13 | 250 | 0.0520 | -6 | c.250 others(25): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 2/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105874123 | CAAAAAA | C | intron_variant | MODIFIER | HG01074.hp1 HG01243.hp1 HG02145.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0013a0001c0001t0015others(2): Show | a0001c0001t0007g0196 a0001c0001t0013g0191 a0001c0001t0015g0192 others(3): Show |
6 | 132 | 0.0455 | -6 | c.250 others(23): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 2/11 | chr7 | TogoVar | |||||||
ATXN7L3B_chr12_74532835_74550430 | 74536670 | CTTTTTT | C | upstream_gene_variant | MODIFIER | HG01928.hp2 HG01934.hp1 HG02040.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0029a0001c0001t0071 | a0001c0001t0002g0000 a0001c0001t0029g0000 a0001c0001t0071g0000 |
12 | 13 | 0.9231 | -6 | c.-14 others(17): Show |
ATXN7L3B | ENSG00000253719.4 | transcript | ENST00000519948.4 | protein_coding | 1164 | chr12 | TogoVar | |||||||
ATXN7_chr3_63858867_64008462 | 63884203 | GCACACA | G | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00408.hp2 others(138): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0002c0003others(7): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(24): Show | a0001c0001t0001g0005 a0001c0001t0001g0023 a0001c0001t0001g0025 others(137): Show |
141 | 205 | 0.6878 | -6 | c.-11 others(27): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATXN7_chr3_63858867_64008462 | 63884236 | CACACAT | C | intron_variant | MODIFIER | HG01106.hp2 HG01255.hp1 HG01256.hp2 others(27): Show |
a0003a0009a0014others(3): Show | a0003c0004a0003c0005a0009c0016others(4): Show | a0003c0004t0003a0003c0004t0016a0003c0004t0024others(7): Show | a0003c0004t0003g0171 a0003c0004t0003g0173 a0003c0004t0003g0178 others(27): Show |
30 | 295 | 0.1017 | -6 | c.-11 others(27): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATXN7_chr3_63858867_64008462 | 63892374 | CCACACA | C | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp1 HG00735.hp2 others(49): Show |
a0003a0009a0014others(5): Show | a0003c0004a0003c0005a0003c0026others(9): Show | a0003c0004t0003a0003c0004t0016a0003c0004t0024others(14): Show | a0003c0004t0003g0160 a0003c0004t0003g0167 a0003c0004t0003g0168 others(49): Show |
52 | 98 | 0.5306 | -6 | c.-11 others(25): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATXN7_chr3_63858867_64008462 | 63910848 | GTAAGTA | G | intron_variant | MODIFIER | HG01070.hp2 HG02647.hp1 HG02922.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0008a0002c0002t0030 | a0002c0002t0008g0016 a0002c0002t0008g0074 a0002c0002t0008g0075 others(2): Show |
5 | 298 | 0.0168 | -6 | c.-11 others(23): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATXN7_chr3_63858867_64008462 | 63940285 | TCACACA | T | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00438.hp2 others(61): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0002c0003others(8): Show | a0001c0001t0006a0001c0001t0013a0002c0002t0002others(15): Show | a0001c0001t0006g0214 a0001c0001t0006g0215 a0001c0001t0006g0234 others(61): Show |
64 | 186 | 0.3441 | -6 | c.395 others(25): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATXN7_chr3_63858867_64008462 | 63964073 | AACACAC | A | intron_variant | MODIFIER | HG00735.hp1 HG01934.hp2 HG02145.hp1 others(16): Show |
a0002a0004a0010 | a0002c0002a0002c0003a0004c0006others(2): Show | a0002c0002t0004a0002c0003t0002a0004c0006t0004others(3): Show | a0002c0002t0004g0011 a0002c0003t0002g0281 a0004c0006t0004g0003 others(15): Show |
19 | 87 | 0.2184 | -6 | c.499 others(25): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATXN7_chr3_63858867_64008462 | 63982623 | AGTGTGT | A | intron_variant | MODIFIER | HG02723.hp2 HG03471.hp2 HG03579.hp2 others(3): Show |
a0005a0008 | a0005c0008a0008c0011 | a0005c0008t0022a0008c0011t0009 | a0005c0008t0022g0210 a0005c0008t0022g0226 a0008c0011t0009g0020 others(3): Show |
6 | 29 | 0.2069 | -6 | c.101 others(23): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
AUH_chr9_91208823_91366918 | 91216439 | GACACAC | G | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00544.hp2 others(80): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0019 others(78): Show |
83 | 247 | 0.3360 | -6 | c.895 others(21): Show |
AUH | ENSG00000148090.12 | transcript | ENST00000375731.9 | protein_coding | 8/9 | chr9 | TogoVar | |||||||
AUH_chr9_91208823_91366918 | 91249292 | CAAAAAA | C | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(55): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 others(54): Show |
58 | 143 | 0.4056 | -6 | c.656 others(25): Show |
AUH | ENSG00000148090.12 | transcript | ENST00000375731.9 | protein_coding | 6/9 | chr9 | TogoVar | |||||||
AUH_chr9_91208823_91366918 | 91256002 | ATTAAAT | A | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG00673.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0002 a0001c0001t0001g0066 a0001c0001t0001g0067 others(22): Show |
26 | 356 | 0.0730 | -6 | c.656 others(25): Show |
AUH | ENSG00000148090.12 | transcript | ENST00000375731.9 | protein_coding | 6/9 | chr9 | TogoVar | |||||||
AUNIP_chr1_25829006_25864457 | 25850211 | AAACAAC | A | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp1 HG00639.hp2 others(46): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0010others(3): Show | a0001c0001t0002g0011 a0001c0001t0002g0020 a0001c0001t0002g0050 others(37): Show |
49 | 350 | 0.1400 | -6 | c.78+ others(21): Show |
AUNIP | ENSG00000127423.11 | transcript | ENST00000374298.4 | protein_coding | 1/2 | chr1 | TogoVar | |||||||
AUNIP_chr1_25829006_25864457 | 25860898 | ATGTGTG | A | upstream_gene_variant | MODIFIER | HG01243.hp2 HG02145.hp1 HG02258.hp1 others(9): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0003a0001c0001t0020a0001c0001t0022others(1): Show | a0001c0001t0003g0017 a0001c0001t0003g0038 a0001c0001t0003g0039 others(6): Show |
12 | 84 | 0.1429 | -6 | c.-15 others(17): Show |
AUNIP | ENSG00000127423.11 | transcript | ENST00000374298.4 | protein_coding | 1442 | chr1 | TogoVar | |||||||
AUTS2_chr7_69593475_70798506 | 69598054 | ACGCCCC | A | upstream_gene_variant | MODIFIER | HG03704.hp1 NA20752.hp1 NA21309.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0015a0001c0001t0016a0002c0002t0024 | a0001c0001t0015g0002 a0001c0001t0016g0003 a0002c0002t0024g0059 |
3 | 39 | 0.0769 | -6 | c.-15 others(17): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 420 | chr7 | TogoVar | |||||||
AUTS2_chr7_69593475_70798506 | 69750472 | TTAGTAG | T | intron_variant | MODIFIER | HG02622.hp2 HG03453.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0001 | a0001c0001t0003g0061 a0002c0002t0001g0057 |
2 | 58 | 0.0345 | -6 | c.310 others(27): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 69850398 | CAAAAAA | C | intron_variant | MODIFIER | HG01081.hp1 HG01175.hp1 HG01884.hp1 others(7): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(5): Show | a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0073 others(7): Show |
10 | 12 | 0.8333 | -6 | c.310 others(25): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 69876484 | GTATATA | G | intron_variant | MODIFIER | HG01884.hp1 HG02630.hp1 NA19030.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0006a0001c0001t0020a0001c0004t0013 | a0001c0001t0006g0038 a0001c0001t0020g0029 a0001c0004t0013g0024 |
3 | 8 | 0.3750 | -6 | c.310 others(25): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 69879120 | CTGTGTG | C | intron_variant | MODIFIER | HG00280.hp1 HG01243.hp2 HG01433.hp1 others(7): Show |
a0001 | a0001c0001a0001c0004a0001c0007 | a0001c0001t0001a0001c0001t0003a0001c0001t0019others(4): Show | a0001c0001t0001g0032 a0001c0001t0001g0073 a0001c0001t0001g0074 others(7): Show |
10 | 14 | 0.7143 | -6 | c.310 others(25): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 69882150 | CAAAAAA | C | intron_variant | MODIFIER | HG01433.hp1 HG01884.hp1 HG01934.hp2 others(5): Show |
a0001a0003 | a0001c0001a0003c0011 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(4): Show | a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0003g0072 others(5): Show |
8 | 35 | 0.2286 | -6 | c.310 others(25): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 69886763 | TTGTGTG | T | intron_variant | MODIFIER | HG02165.hp2 HG03516.hp2 NA20752.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0016a0001c0001t0018others(1): Show | a0001c0001t0015g0002 a0001c0001t0016g0003 a0001c0001t0018g0001 others(1): Show |
4 | 22 | 0.1818 | -6 | c.310 others(25): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 69888540 | GATATAT | G | intron_variant | MODIFIER | HG00280.hp1 HG00597.hp1 HG01081.hp1 others(11): Show |
a0001a0003a0004 | a0001c0001a0003c0011a0004c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0015others(5): Show | a0001c0001t0001g0026 a0001c0001t0001g0032 a0001c0001t0001g0034 others(11): Show |
14 | 24 | 0.5833 | -6 | c.310 others(25): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 69891774 | CTTTTTT | C | intron_variant | MODIFIER | HG01243.hp2 HG01433.hp1 HG01884.hp1 others(5): Show |
a0001a0003 | a0001c0001a0001c0007a0003c0011 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(3): Show | a0001c0001t0001g0032 a0001c0001t0001g0073 a0001c0001t0001g0074 others(5): Show |
8 | 10 | 0.8000 | -6 | c.310 others(23): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 69931112 | TACACAC | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG01081.hp1 others(37): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(24): Show | a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0036 others(37): Show |
40 | 50 | 0.8000 | -6 | c.522 others(25): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 69972670 | CATGTGT | C | intron_variant | MODIFIER | HG00280.hp1 HG00597.hp1 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0026 a0001c0001t0001g0071 a0001c0001t0003g0068 |
3 | 72 | 0.0417 | -6 | c.522 others(25): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 2/18 | chr7 | TogoVar | |||||||
AUTS2_chr7_69593475_70798506 | 69978859 | AACACAC | A | intron_variant | MODIFIER | HG00280.hp1 HG00597.hp1 HG01433.hp1 others(6): Show |
a0001a0003 | a0001c0001a0003c0011 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(3): Show | a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 others(6): Show |
9 | 15 | 0.6000 | -6 | c.522 others(25): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70039350 | TTTGTTG | T | intron_variant | MODIFIER | HG01884.hp2 HG02886.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010 | a0001c0001t0002g0049 a0001c0001t0002g0062 a0001c0001t0010g0065 |
3 | 76 | 0.0395 | -6 | c.523 others(25): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70156891 | TAAAAAA | T | intron_variant | MODIFIER | HG01081.hp1 HG02165.hp2 HG02630.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0015others(4): Show | a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0003g0033 others(6): Show |
9 | 22 | 0.4091 | -6 | c.660 others(25): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70162445 | CAAAAAA | C | intron_variant | MODIFIER | HG01081.hp1 HG01175.hp1 HG02630.hp1 others(3): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0020others(1): Show | a0001c0001t0001g0032 a0001c0001t0001g0036 a0001c0001t0001g0037 others(3): Show |
6 | 7 | 0.8571 | -6 | c.660 others(25): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70243231 | TTGTGTG | T | intron_variant | MODIFIER | HG01175.hp1 HG02055.hp2 HG02257.hp2 others(5): Show |
a0001a0002a0004 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0009others(4): Show | a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0006g0010 others(5): Show |
8 | 20 | 0.4000 | -6 | c.660 others(27): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70491589 | TTGTGTG | T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG01081.hp2 others(20): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(16): Show | a0001c0001t0003g0035 a0001c0001t0003g0061 a0001c0001t0004g0042 others(20): Show |
23 | 45 | 0.5111 | -6 | c.690 others(25): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70609956 | TTTTTTG | T | intron_variant | MODIFIER | HG00099.hp1 HG03239.hp2 HG03516.hp1 others(2): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(2): Show | a0001c0001t0001g0058 a0001c0001t0003g0066 a0001c0001t0009g0008 others(2): Show |
5 | 65 | 0.0769 | -6 | c.691 others(25): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70609959 | TTTGTTG | T | intron_variant | MODIFIER | HG01884.hp1 HG03041.hp1 HG03225.hp1 |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0006a0001c0005t0030a0002c0002t0036 | a0001c0001t0006g0038 a0001c0005t0030g0013 a0002c0002t0036g0017 |
3 | 25 | 0.1200 | -6 | c.691 others(25): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70615565 | CTTGTTG | C | intron_variant | MODIFIER | HG01081.hp1 HG01175.hp2 HG01433.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(1): Show | a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0003g0033 others(3): Show |
6 | 24 | 0.2500 | -6 | c.691 others(25): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70626358 | TAAAAAA | T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG01175.hp1 others(13): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0036 a0001c0001t0001g0058 a0001c0001t0002g0047 others(13): Show |
16 | 25 | 0.6400 | -6 | c.691 others(25): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |