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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TTL_chr2_112477156_112546739 | 112503403 | G | GTATATAT others(3): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0003 | a0001c0003t0019 | a0001c0003t0019g0180 | 1 | 173 | 0.0058 | 10 | c.875 others(25): Show |
TTL | ENSG00000114999.8 | transcript | ENST00000233336.7 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TTL_chr2_112477156_112546739 | 112511982 | C | CATTCTAT others(3): Show |
intron_variant | MODIFIER | NA18939.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0128 | 1 | 244 | 0.0041 | 10 | c.876 others(27): Show |
TTL | ENSG00000114999.8 | transcript | ENST00000233336.7 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TTL_chr2_112477156_112546739 | 112523350 | C | CTGTGTGT others(3): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02615.hp2 HG02622.hp1 others(12): Show |
a0001 | a0001c0002 | a0001c0002t0007a0001c0002t0008a0001c0002t0011others(1): Show | a0001c0002t0007g0008 a0001c0002t0007g0104 a0001c0002t0007g0106 others(9): Show |
15 | 32 | 0.4688 | 10 | c.101 others(29): Show |
TTL | ENSG00000114999.8 | transcript | ENST00000233336.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TTN_chr2_178520989_178812423 | 178555236 | T | TTAAAGTA others(3): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0077 | a0077c0107 | a0077c0107t0001 | a0077c0107t0001g0146 | 1 | 240 | 0.0042 | 10 | c.883 others(27): Show |
TTN | ENSG00000155657.29 | transcript | ENST00000589042.5 | protein_coding | 330/362 | chr2 | TogoVar | |||||||
TTN_chr2_178520989_178812423 | 178600410 | C | CATATATA others(3): Show |
intron_variant | MODIFIER | NA18943.hp1 | a0006 | a0006c0065 | a0006c0065t0003 | a0006c0065t0003g0151 | 1 | 21 | 0.0476 | 10 | c.560 others(29): Show |
TTN | ENSG00000155657.29 | transcript | ENST00000589042.5 | protein_coding | 288/362 | chr2 | TogoVar | |||||||
TTN_chr2_178520989_178812423 | 178637146 | G | GATATATA others(3): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02155.hp1 HG02273.hp2 others(7): Show |
a0001a0004a0006others(7): Show | a0001c0001a0004c0007a0006c0013others(7): Show | a0001c0001t0001a0004c0007t0002a0006c0013t0003others(7): Show | a0001c0001t0001g0030 a0004c0007t0002g0101 a0006c0013t0003g0180 others(7): Show |
10 | 48 | 0.2083 | 10 | c.409 others(29): Show |
TTN | ENSG00000155657.29 | transcript | ENST00000589042.5 | protein_coding | 224/362 | chr2 | TogoVar | |||||||
TTN_chr2_178520989_178812423 | 178637187 | A | ATATATAT others(3): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0105 | a0105c0142 | a0105c0142t0002 | a0105c0142t0002g0080 | 1 | 236 | 0.0042 | 10 | c.409 others(29): Show |
TTN | ENSG00000155657.29 | transcript | ENST00000589042.5 | protein_coding | 224/362 | chr2 | TogoVar | |||||||
TTN_chr2_178520989_178812423 | 178646104 | T | TTATATAT others(3): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01257.hp1 HG01981.hp1 others(8): Show |
a0001a0006a0008others(7): Show | a0001c0001a0006c0013a0008c0003others(7): Show | a0001c0001t0001a0006c0013t0003a0008c0003t0002others(7): Show | a0001c0001t0001g0030 a0006c0013t0003g0180 a0008c0003t0002g0157 others(8): Show |
11 | 29 | 0.3793 | 10 | c.402 others(27): Show |
TTN | ENSG00000155657.29 | transcript | ENST00000589042.5 | protein_coding | 216/362 | chr2 | TogoVar | |||||||
TTN_chr2_178520989_178812423 | 178646104 | T | TTTTATAT others(3): Show |
intron_variant | MODIFIER | HG00642.hp2 HG02015.hp2 HG02895.hp1 others(4): Show |
a0003a0010a0021others(3): Show | a0003c0004a0010c0094a0021c0017others(3): Show | a0003c0004t0001a0010c0094t0001a0021c0017t0001others(3): Show | a0003c0004t0001g0168 a0010c0094t0001g0184 a0021c0017t0001g0191 others(4): Show |
7 | 25 | 0.2800 | 10 | c.402 others(27): Show |
TTN | ENSG00000155657.29 | transcript | ENST00000589042.5 | protein_coding | 216/362 | chr2 | TogoVar | |||||||
TTN_chr2_178520989_178812423 | 178647040 | G | GTATATAT others(3): Show |
intron_variant | MODIFIER | NA19002.hp1 | a0163 | a0163c0166 | a0163c0166t0003 | a0163c0166t0003g0049 | 1 | 147 | 0.0068 | 10 | c.402 others(27): Show |
TTN | ENSG00000155657.29 | transcript | ENST00000589042.5 | protein_coding | 215/362 | chr2 | TogoVar | |||||||
TTN_chr2_178520989_178812423 | 178677335 | C | CATATACA others(3): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0050 | a0050c0101 | a0050c0101t0001 | a0050c0101t0001g0169 | 1 | 74 | 0.0135 | 10 | c.342 others(27): Show |
TTN | ENSG00000155657.29 | transcript | ENST00000589042.5 | protein_coding | 146/362 | chr2 | TogoVar | |||||||
TTN_chr2_178520989_178812423 | 178677335 | C | CATATATA others(3): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01257.hp1 NA20129.hp1 |
a0015a0037a0182 | a0015c0022a0037c0038a0182c0197 | a0015c0022t0001a0037c0038t0001a0182c0197t0001 | a0015c0022t0001g0062 a0037c0038t0001g0127 a0182c0197t0001g0060 |
3 | 76 | 0.0395 | 10 | c.342 others(27): Show |
TTN | ENSG00000155657.29 | transcript | ENST00000589042.5 | protein_coding | 146/362 | chr2 | TogoVar | |||||||
TTN_chr2_178520989_178812423 | 178686113 | A | ATTTTTTT others(3): Show |
intron_variant | MODIFIER | HG00735.hp1 HG00741.hp1 |
a0014a0040 | a0014c0204a0040c0209 | a0014c0204t0001a0040c0209t0001 | a0014c0204t0001g0069 a0040c0209t0001g0074 |
2 | 65 | 0.0308 | 10 | c.323 others(29): Show |
TTN | ENSG00000155657.29 | transcript | ENST00000589042.5 | protein_coding | 127/362 | chr2 | TogoVar | |||||||
TTN_chr2_178520989_178812423 | 178713381 | T | TACAAAAC others(3): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02965.hp2 HG03098.hp1 others(3): Show |
a0077a0108a0112others(3): Show | a0077c0107a0108c0156a0112c0155others(3): Show | a0077c0107t0001a0108c0156t0001a0112c0155t0001others(3): Show | a0077c0107t0001g0146 a0108c0156t0001g0163 a0112c0155t0001g0162 others(3): Show |
6 | 120 | 0.0500 | 10 | c.267 others(27): Show |
TTN | ENSG00000155657.29 | transcript | ENST00000589042.5 | protein_coding | 92/362 | chr2 | TogoVar | |||||||
TTN_chr2_178520989_178812423 | 178791663 | A | ATGTGTGT others(3): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01175.hp1 HG02647.hp1 others(2): Show |
a0037a0046a0088others(2): Show | a0037c0038a0046c0035a0088c0039others(2): Show | a0037c0038t0001a0046c0035t0001a0088c0039t0001others(2): Show | a0037c0038t0001g0127 a0046c0035t0001g0128 a0088c0039t0001g0112 others(2): Show |
5 | 127 | 0.0394 | 10 | c.166 others(27): Show |
TTN | ENSG00000155657.29 | transcript | ENST00000589042.5 | protein_coding | 10/362 | chr2 | TogoVar | |||||||
TTN_chr2_178739405_178812423 | 178791663 | A | ATGTGTGT others(3): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00639.hp1 HG01175.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0163 others(4): Show |
7 | 193 | 0.0363 | 10 | c.166 others(27): Show |
TTN | ENSG00000155657.29 | transcript | ENST00000360870.10 | protein_coding | 10/45 | chr2 | TogoVar | |||||||
TTPA_chr8_63054488_63091053 | 63088774 | T | TTTTTTTT others(3): Show |
upstream_gene_variant | MODIFIER | HG02071.hp1 HG02717.hp1 HG03453.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0014 | a0001c0001t0001g0005 a0001c0001t0001g0118 a0001c0001t0002g0060 others(1): Show |
4 | 251 | 0.0159 | 10 | c.-27 others(21): Show |
TTPA | ENSG00000137561.5 | transcript | ENST00000260116.5 | protein_coding | 2722 | chr8 | TogoVar | |||||||
TTR_chr18_31586877_31603821 | 31590652 | G | GCACACAC others(3): Show |
upstream_gene_variant | MODIFIER | HG02976.hp2 HG03098.hp2 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0017 a0001c0001t0002g0028 |
3 | 257 | 0.0117 | 10 | c.-12 others(21): Show |
TTR | ENSG00000118271.12 | transcript | ENST00000237014.8 | protein_coding | 1224 | chr18 | TogoVar | |||||||
TTR_chr18_31586877_31603821 | 31590652 | G | GCGCGCAC others(3): Show |
upstream_gene_variant | MODIFIER | HG02818.hp2 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 a0001c0001t0001g0025 |
2 | 256 | 0.0078 | 10 | c.-12 others(21): Show |
TTR | ENSG00000118271.12 | transcript | ENST00000237014.8 | protein_coding | 1224 | chr18 | TogoVar | |||||||
TTYH1_chr19_54410464_54441904 | 54413409 | T | TGAGAGAG others(3): Show |
upstream_gene_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0002 | a0001c0002t0019 | a0001c0002t0019g0302 | 1 | 326 | 0.0031 | 10 | c.-21 others(21): Show |
TTYH1 | ENSG00000167614.14 | transcript | ENST00000376530.8 | protein_coding | 2054 | chr19 | TogoVar | |||||||
TTYH1_chr19_54410464_54441904 | 54413417 | T | TGAGAGAG others(3): Show |
upstream_gene_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0298 | 1 | 224 | 0.0045 | 10 | c.-21 others(21): Show |
TTYH1 | ENSG00000167614.14 | transcript | ENST00000376530.8 | protein_coding | 2046 | chr19 | TogoVar | |||||||
TTYH1_chr19_54410464_54441904 | 54414249 | C | CAACATAA others(3): Show |
upstream_gene_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 328 | 0.0030 | 10 | c.-13 others(21): Show |
TTYH1 | ENSG00000167614.14 | transcript | ENST00000376530.8 | protein_coding | 1214 | chr19 | TogoVar | |||||||
TTYH1_chr19_54410464_54441904 | 54437000 | C | CTGTGTGT others(3): Show |
downstream_gene_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0037 | 1 | 223 | 0.0045 | 10 | c.*71 others(19): Show |
TTYH1 | ENSG00000167614.14 | transcript | ENST00000376530.8 | protein_coding | 97 | chr19 | TogoVar | |||||||
TTYH2_chr17_74208571_74267020 | 74215170 | C | CGTGTGTG others(3): Show |
intron_variant | MODIFIER | HG02559.hp2 HG03453.hp1 HG03453.hp2 others(4): Show |
a0001a0005a0007 | a0001c0001a0005c0010a0007c0011others(1): Show | a0001c0001t0001a0005c0010t0004a0007c0011t0001others(1): Show | a0001c0001t0001g0306 a0005c0010t0004g0099 a0005c0010t0004g0100 others(4): Show |
7 | 158 | 0.0443 | 10 | c.129 others(27): Show |
TTYH2 | ENSG00000141540.11 | transcript | ENST00000269346.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TTYH2_chr17_74208571_74267020 | 74227750 | T | TTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02717.hp1 HG02809.hp1 others(2): Show |
a0004a0010 | a0004c0006a0010c0016 | a0004c0006t0008a0010c0016t0007 | a0004c0006t0008g0088 a0010c0016t0007g0023 a0010c0016t0007g0285 others(1): Show |
5 | 350 | 0.0143 | 10 | c.303 others(27): Show |
TTYH2 | ENSG00000141540.11 | transcript | ENST00000269346.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TTYH2_chr17_74208571_74267020 | 74227983 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG01516.hp1 HG02615.hp1 HG02717.hp1 others(5): Show |
a0001a0003a0004others(2): Show | a0001c0009a0003c0003a0004c0006others(2): Show | a0001c0009t0005a0003c0003t0002a0004c0006t0001others(3): Show | a0001c0009t0005g0074 a0003c0003t0002g0073 a0004c0006t0001g0106 others(5): Show |
8 | 255 | 0.0314 | 10 | c.303 others(27): Show |
TTYH2 | ENSG00000141540.11 | transcript | ENST00000269346.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TTYH2_chr17_74208571_74267020 | 74241262 | C | CGTGTGTG others(3): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0014 | a0014c0023 | a0014c0023t0001 | a0014c0023t0001g0116 | 1 | 149 | 0.0067 | 10 | c.636 others(27): Show |
TTYH2 | ENSG00000141540.11 | transcript | ENST00000269346.9 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TTYH2_chr17_74208571_74267020 | 74241296 | T | TGTGTGCG others(3): Show |
intron_variant | MODIFIER | HG00438.hp1 NA18980.hp2 |
a0005 | a0005c0007 | a0005c0007t0006 | a0005c0007t0006g0185 a0005c0007t0006g0196 |
2 | 341 | 0.0059 | 10 | c.636 others(27): Show |
TTYH2 | ENSG00000141540.11 | transcript | ENST00000269346.9 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TTYH2_chr17_74208571_74267020 | 74244855 | A | AGTGTGTG others(3): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02647.hp2 HG02818.hp2 others(3): Show |
a0001a0005a0012 | a0001c0009a0001c0014a0005c0007others(1): Show | a0001c0009t0012a0001c0014t0001a0005c0007t0018others(1): Show | a0001c0009t0012g0301 a0001c0009t0012g0302 a0001c0014t0001g0300 others(3): Show |
6 | 171 | 0.0351 | 10 | c.804 others(25): Show |
TTYH2 | ENSG00000141540.11 | transcript | ENST00000269346.9 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TTYH3_chr7_2626986_2669802 | 2666228 | C | CCACCAGC others(3): Show |
downstream_gene_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG00639.hp2 others(107): Show |
a0001a0002a0004 | a0001c0001a0001c0005a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0056 a0001c0001t0001g0107 a0001c0001t0002g0097 others(103): Show |
110 | 400 | 0.2750 | 10 | c.*44 others(21): Show |
TTYH3 | ENSG00000136295.16 | transcript | ENST00000258796.12 | protein_coding | 1427 | chr7 | TogoVar | |||||||
TTYH3_chr7_2626986_2669802 | 2666233 | A | AGCACACA others(3): Show |
downstream_gene_variant | MODIFIER | HG02145.hp2 HG02451.hp2 HG02486.hp2 others(9): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0017a0001c0001t0018a0002c0003t0008others(2): Show | a0001c0001t0017g0270 a0001c0001t0018g0189 a0001c0001t0018g0190 others(7): Show |
12 | 400 | 0.0300 | 10 | c.*44 others(21): Show |
TTYH3 | ENSG00000136295.16 | transcript | ENST00000258796.12 | protein_coding | 1432 | chr7 | TogoVar | |||||||
TUBA1A_chr12_49179795_49194080 | 49188019 | G | GACACACA others(3): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0062 | 1 | 346 | 0.0029 | 10 | c.3+9 others(21): Show |
TUBA1A | ENSG00000167552.15 | transcript | ENST00000301071.12 | protein_coding | 1/3 | chr12 | TogoVar | |||||||
TUBA1A_chr12_49179795_49194080 | 49188023 | G | GACACACA others(3): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 316 | 0.0032 | 10 | c.3+9 others(21): Show |
TUBA1A | ENSG00000167552.15 | transcript | ENST00000301071.12 | protein_coding | 1/3 | chr12 | TogoVar | |||||||
TUBA1A_chr12_49179795_49194080 | 49188077 | G | GACACACA others(3): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG02055.hp2 others(10): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0009 a0001c0001t0001g0017 a0001c0001t0001g0038 others(2): Show |
13 | 118 | 0.1102 | 10 | c.3+8 others(21): Show |
TUBA1A | ENSG00000167552.15 | transcript | ENST00000301071.12 | protein_coding | 1/3 | chr12 | TogoVar | |||||||
TUBA1B_chr12_49122782_49136395 | 49123757 | A | ATTTTTTT others(3): Show |
downstream_gene_variant | MODIFIER | HG01109.hp2 HG02109.hp1 NA18906.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0002 a0001c0003t0001g0003 |
3 | 162 | 0.0185 | 10 | c.*42 others(21): Show |
TUBA1B | ENSG00000123416.15 | transcript | ENST00000336023.9 | protein_coding | 4024 | chr12 | TogoVar | |||||||
TUBA1B_chr12_49122782_49136395 | 49135225 | T | TTATATAT others(3): Show |
upstream_gene_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG02896.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 4 | 378 | 0.0106 | 10 | c.-39 others(21): Show |
TUBA1B | ENSG00000123416.15 | transcript | ENST00000336023.9 | protein_coding | 3831 | chr12 | TogoVar | |||||||
TUBA1B_chr12_49122782_49136395 | 49135251 | A | ATTTTTTT others(3): Show |
upstream_gene_variant | MODIFIER | HG02257.hp1 HG03195.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0008 | 2 | 314 | 0.0064 | 10 | c.-39 others(21): Show |
TUBA1B | ENSG00000123416.15 | transcript | ENST00000336023.9 | protein_coding | 3857 | chr12 | TogoVar | |||||||
TUBA1B_chr12_49122782_49136395 | 49135253 | A | ATATATAT others(3): Show |
upstream_gene_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 51 | 0.0196 | 10 | c.-39 others(21): Show |
TUBA1B | ENSG00000123416.15 | transcript | ENST00000336023.9 | protein_coding | 3859 | chr12 | TogoVar | |||||||
TUBA1B_chr12_49122782_49136395 | 49135253 | A | ATATATTT others(3): Show |
upstream_gene_variant | MODIFIER | HG01517.hp2 HG02630.hp1 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0001 | a0001c0001t0001g0002 a0001c0007t0001g0028 |
2 | 52 | 0.0385 | 10 | c.-39 others(21): Show |
TUBA1B | ENSG00000123416.15 | transcript | ENST00000336023.9 | protein_coding | 3859 | chr12 | TogoVar | |||||||
TUBA1B_chr12_49122782_49136395 | 49135253 | A | ATATTTTT others(3): Show |
upstream_gene_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 51 | 0.0196 | 10 | c.-39 others(21): Show |
TUBA1B | ENSG00000123416.15 | transcript | ENST00000336023.9 | protein_coding | 3859 | chr12 | TogoVar | |||||||
TUBA1B_chr12_49122782_49136395 | 49135253 | A | ATTTTTTT others(3): Show |
upstream_gene_variant | MODIFIER | HG02109.hp1 HG02630.hp2 HG02922.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0008 | a0001c0001t0001a0001c0003t0001a0001c0008t0001 | a0001c0001t0001g0005 a0001c0003t0001g0003 a0001c0003t0001g0008 others(1): Show |
7 | 57 | 0.1228 | 10 | c.-39 others(21): Show |
TUBA1B | ENSG00000123416.15 | transcript | ENST00000336023.9 | protein_coding | 3859 | chr12 | TogoVar | |||||||
TUBA1C_chr12_49260082_49279600 | 49274285 | A | ATTTTTTT others(3): Show |
3_prime_UTR_variant | MODIFIER | HG02486.hp1 HG03516.hp2 |
a0001 | a0001c0001a0001c0014 | a0001c0001t0024a0001c0014t0024 | a0001c0001t0024g0036 a0001c0014t0024g0053 |
2 | 95 | 0.0211 | 10 | c.*10 others(21): Show |
TUBA1C | ENSG00000167553.17 | transcript | ENST00000301072.11 | protein_coding | 4/4 | 1088 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
TUBA3C_chr13_19168772_19186824 | 19169244 | A | AATATATA others(3): Show |
downstream_gene_variant | MODIFIER | HG02976.hp2 HG03098.hp2 HG03209.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0015 |
4 | 23 | 0.1739 | 10 | c.*46 others(21): Show |
TUBA3C | ENSG00000198033.13 | transcript | ENST00000400113.8 | protein_coding | 4527 | chr13 | TogoVar | |||||||
TUBA3C_chr13_19168772_19186824 | 19169345 | C | CAAAAAAA others(3): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00544.hp1 others(50): Show |
a0001 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0006t0001others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(14): Show |
53 | 76 | 0.6974 | 10 | c.*45 others(21): Show |
TUBA3C | ENSG00000198033.13 | transcript | ENST00000400113.8 | protein_coding | 4426 | chr13 | TogoVar | |||||||
TUBA3C_chr13_19168772_19186824 | 19176725 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG02486.hp1 NA18943.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 a0001c0001t0001g0074 |
2 | 29 | 0.0690 | 10 | c.105 others(27): Show |
TUBA3C | ENSG00000198033.13 | transcript | ENST00000400113.8 | protein_coding | 4/4 | chr13 | TogoVar | |||||||
TUBA3C_chr13_19168772_19186824 | 19186697 | A | AGTGTGTG others(3): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG00597.hp2 HG00621.hp1 others(44): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(15): Show |
47 | 90 | 0.5222 | 10 | c.-49 others(21): Show |
TUBA3C | ENSG00000198033.13 | transcript | ENST00000400113.8 | protein_coding | 4874 | chr13 | TogoVar | |||||||
TUBA3D_chr2_131471119_131487934 | 131487899 | T | TACATAAT others(3): Show |
downstream_gene_variant | MODIFIER | NA19083.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0042 | 1 | 390 | 0.0026 | 10 | c.*50 others(21): Show |
TUBA3D | ENSG00000075886.11 | transcript | ENST00000321253.7 | protein_coding | 4966 | chr2 | TogoVar | |||||||
TUBA8_chr22_18105809_18136732 | 18108631 | G | GACACACA others(3): Show |
upstream_gene_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 123 | 0.0081 | 10 | c.-22 others(21): Show |
TUBA8 | ENSG00000183785.16 | transcript | ENST00000330423.8 | protein_coding | 2177 | chr22 | TogoVar | |||||||
TUBAL3_chr10_5388101_5409828 | 5409013 | C | CATATATA others(3): Show |
upstream_gene_variant | MODIFIER | HG02148.hp2 NA19082.hp2 |
a0003a0013 | a0003c0005a0013c0017 | a0003c0005t0001a0013c0017t0001 | a0003c0005t0001g0007 a0013c0017t0001g0060 |
2 | 15 | 0.1333 | 10 | c.-42 others(21): Show |
TUBAL3 | ENSG00000178462.12 | transcript | ENST00000380419.8 | protein_coding | 4186 | chr10 | TogoVar | |||||||
TUBB2B_chr6_3219277_3232653 | 3221996 | A | ACCACCAC others(3): Show |
downstream_gene_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 21 | 0.0476 | 10 | c.*27 others(21): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 2280 | chr6 | TogoVar |