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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TTLL3_chr3_9805262_9841365 | 9809959 | G | GGGGCGCG others(22): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(286): Show |
a0001a0002a0003others(12): Show | a0001c0001a0002c0002a0002c0004others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(31): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0008 others(217): Show |
289 | 391 | 0.7391 | 29 | c.-47 others(38): Show |
TTLL3 | ENSG00000214021.18 | transcript | ENST00000685419.1 | protein_coding | 302 | chr3 | TogoVar | |||||||
TTLL5_chr14_75656246_75960079 | 75914033 | A | AAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0029 | 1 | 61 | 0.0164 | 29 | c.382 others(50): Show |
TTLL5 | ENSG00000119685.20 | transcript | ENST00000298832.14 | protein_coding | 31/31 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
TUBA1B_chr12_49122782_49136395 | 49123757 | A | ATTTTTTT others(22): Show |
downstream_gene_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00609.hp1 others(36): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0004t0003 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(4): Show |
39 | 198 | 0.1970 | 29 | c.*42 others(40): Show |
TUBA1B | ENSG00000123416.15 | transcript | ENST00000336023.9 | protein_coding | 4024 | chr12 | TogoVar | |||||||
TUBB2B_chr6_3219277_3232653 | 3222086 | T | TCATCATC others(22): Show |
downstream_gene_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 87 | 0.0115 | 29 | c.*26 others(40): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 2190 | chr6 | TogoVar | |||||||
TUBB4A_chr19_6489319_6507309 | 6505271 | T | TTTTTGGG others(22): Show |
upstream_gene_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 | 1 | 426 | 0.0023 | 29 | c.-30 others(40): Show |
TUBB4A | ENSG00000104833.12 | transcript | ENST00000264071.7 | protein_coding | 2963 | chr19 | TogoVar | |||||||
TUBGCP2_chr10_133273635_133313872 | 133289807 | C | CGCCCGCT others(22): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(205): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0004others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(23): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(164): Show |
208 | 280 | 0.7429 | 29 | c.136 others(44): Show |
TUBGCP2 | ENSG00000130640.15 | transcript | ENST00000252936.8 | protein_coding | 9/17 | chr10 | TogoVar | |||||||
TUBGCP2_chr10_133273635_133313872 | 133289807 | C | CGCCCGCT others(22): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0081 | 1 | 73 | 0.0137 | 29 | c.136 others(44): Show |
TUBGCP2 | ENSG00000130640.15 | transcript | ENST00000252936.8 | protein_coding | 9/17 | chr10 | TogoVar | |||||||
TUBGCP2_chr10_133273635_133313872 | 133289807 | C | CGCCCGCT others(22): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0039 | 1 | 73 | 0.0137 | 29 | c.136 others(44): Show |
TUBGCP2 | ENSG00000130640.15 | transcript | ENST00000252936.8 | protein_coding | 9/17 | chr10 | TogoVar | |||||||
TUBGCP2_chr10_133273635_133313872 | 133289811 | C | CGCTGCGC others(22): Show |
intron_variant | MODIFIER | HG02965.hp2 HG03130.hp1 |
a0004 | a0004c0013 | a0004c0013t0001 | a0004c0013t0001g0041 a0004c0013t0001g0095 |
2 | 239 | 0.0084 | 29 | c.136 others(44): Show |
TUBGCP2 | ENSG00000130640.15 | transcript | ENST00000252936.8 | protein_coding | 9/17 | chr10 | TogoVar | |||||||
TUBGCP2_chr10_133273635_133313872 | 133289811 | C | CGCTGCGC others(22): Show |
intron_variant | MODIFIER | HG00733.hp2 HG00735.hp2 HG01069.hp2 others(38): Show |
a0001a0010 | a0001c0001a0001c0023a0010c0025 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 others(32): Show |
41 | 278 | 0.1475 | 29 | c.136 others(44): Show |
TUBGCP2 | ENSG00000130640.15 | transcript | ENST00000252936.8 | protein_coding | 9/17 | chr10 | TogoVar | |||||||
TUBGCP2_chr10_133273635_133313872 | 133289811 | C | CGCTGCGC others(22): Show |
intron_variant | MODIFIER | HG00741.hp1 HG02145.hp2 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0055 a0001c0002t0003g0067 |
2 | 239 | 0.0084 | 29 | c.136 others(44): Show |
TUBGCP2 | ENSG00000130640.15 | transcript | ENST00000252936.8 | protein_coding | 9/17 | chr10 | TogoVar | |||||||
TUBGCP2_chr10_133273635_133313872 | 133291362 | C | CCCCATGT others(22): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0103 | 1 | 268 | 0.0037 | 29 | c.121 others(48): Show |
TUBGCP2 | ENSG00000130640.15 | transcript | ENST00000252936.8 | protein_coding | 8/17 | chr10 | TogoVar | |||||||
TUBGCP2_chr10_133273635_133313872 | 133291738 | C | CCCCATGT others(22): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0103 | 1 | 257 | 0.0039 | 29 | c.121 others(46): Show |
TUBGCP2 | ENSG00000130640.15 | transcript | ENST00000252936.8 | protein_coding | 8/17 | chr10 | TogoVar | |||||||
TUBGCP2_chr10_133273635_133313872 | 133292053 | C | CGGGGAGC others(22): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 280 | 0.0036 | 29 | c.121 others(46): Show |
TUBGCP2 | ENSG00000130640.15 | transcript | ENST00000252936.8 | protein_coding | 8/17 | chr10 | TogoVar | |||||||
TUBGCP2_chr10_133273635_133313872 | 133292208 | A | ATGTCCCT others(22): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0223 | 1 | 243 | 0.0041 | 29 | c.121 others(46): Show |
TUBGCP2 | ENSG00000130640.15 | transcript | ENST00000252936.8 | protein_coding | 8/17 | chr10 | TogoVar | |||||||
TUBGCP2_chr10_133273635_133313872 | 133302495 | C | CCAGAGGT others(22): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02895.hp1 NA21309.hp1 |
a0002 | a0002c0003a0002c0016 | a0002c0003t0001a0002c0003t0002a0002c0016t0002 | a0002c0003t0001g0234 a0002c0003t0002g0233 a0002c0016t0002g0082 |
3 | 263 | 0.0114 | 29 | c.150 others(44): Show |
TUBGCP2 | ENSG00000130640.15 | transcript | ENST00000252936.8 | protein_coding | 2/17 | chr10 | TogoVar | |||||||
TUBGCP3_chr13_112480011_112593153 | 112578558 | C | CAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0292 | 1 | 114 | 0.0088 | 29 | c.77- others(44): Show |
TUBGCP3 | ENSG00000126216.15 | transcript | ENST00000261965.8 | protein_coding | 1/21 | chr13 | TogoVar | |||||||
TUBGCP4_chr15_43366101_43414771 | 43386377 | A | ATATATAT others(22): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0232 | 1 | 149 | 0.0067 | 29 | c.101 others(44): Show |
TUBGCP4 | ENSG00000137822.13 | transcript | ENST00000564079.6 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
TUBGCP5_chr15_22994177_23044569 | 23044444 | G | GAGATTTC others(22): Show |
upstream_gene_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0099 | 1 | 344 | 0.0029 | 29 | c.-49 others(40): Show |
TUBGCP5 | ENSG00000275835.5 | transcript | ENST00000615383.5 | protein_coding | 4876 | chr15 | TogoVar | |||||||
TUBGCP6_chr22_50212694_50250023 | 50234337 | G | GCATCCAC others(22): Show |
intron_variant | MODIFIER | NA18993.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0292 | 1 | 34 | 0.0294 | 29 | c.906 others(44): Show |
TUBGCP6 | ENSG00000128159.12 | transcript | ENST00000248846.10 | protein_coding | 2/24 | chr22 | TogoVar | |||||||
TULP4_chr6_158307465_158516828 | 158332200 | A | AAAAAAAT others(22): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0026 | a0001c0026t0012 | a0001c0026t0012g0219 | 1 | 236 | 0.0042 | 29 | c.252 others(48): Show |
TULP4 | ENSG00000130338.13 | transcript | ENST00000367097.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
TULP4_chr6_158307465_158516828 | 158453485 | C | CAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0130 | 1 | 92 | 0.0109 | 29 | c.859 others(46): Show |
TULP4 | ENSG00000130338.13 | transcript | ENST00000367097.8 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
TUNAR_chr14_95871832_95930571 | 95872180 | C | CAAAAAAA others(22): Show |
upstream_gene_variant | MODIFIER | HG03017.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0092 | 1 | 177 | 0.0056 | 29 | c.-49 others(40): Show |
TUNAR | ENSG00000250366.4 | transcript | ENST00000503525.3 | protein_coding | 4651 | chr14 | TogoVar | |||||||
TUSC3_chr8_15535263_15771638 | 15570954 | G | GTTTTTTT others(22): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0233 | 1 | 53 | 0.0189 | 29 | c.138 others(48): Show |
TUSC3 | ENSG00000104723.21 | transcript | ENST00000503731.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
TUSC3_chr8_15535263_15771638 | 15617120 | A | ATGTTGTG others(22): Show |
intron_variant | MODIFIER | NA18956.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0189 | 1 | 93 | 0.0108 | 29 | c.139 others(46): Show |
TUSC3 | ENSG00000104723.21 | transcript | ENST00000503731.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
TUSC3_chr8_15535263_15771638 | 15648725 | C | CAAAAAAA others(22): Show |
intron_variant | MODIFIER | NA18986.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0289 | 1 | 38 | 0.0263 | 29 | c.309 others(46): Show |
TUSC3 | ENSG00000104723.21 | transcript | ENST00000503731.6 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
TVP23C_chr17_15531980_15568483 | 15547055 | T | TTACCTTT others(22): Show |
splice_region_variant others(1): Show |
LOW | NA18939.hp1 NA18939.hp2 NA18967.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0017 | a0001c0001t0001g0151 a0001c0001t0004g0167 a0001c0001t0004g0168 others(4): Show |
7 | 422 | 0.0166 | 29 | c.305 others(38): Show |
TVP23C | ENSG00000175106.17 | transcript | ENST00000518321.6 | protein_coding | 4/5 | chr17 | TogoVar | |||||||
TWIST2_chr2_238843085_238915534 | 238870192 | T | TACCACAC others(22): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0257 | 1 | 64 | 0.0156 | 29 | c.*35 others(48): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238870596 | C | CCCACACA others(22): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0330 | 1 | 276 | 0.0036 | 29 | c.*35 others(48): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TXK_chr4_48061393_48139250 | 48104503 | T | TAATATAT others(22): Show |
intron_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0316 | 1 | 358 | 0.0028 | 29 | c.501 others(44): Show |
TXK | ENSG00000074966.11 | transcript | ENST00000264316.9 | protein_coding | 6/14 | chr4 | TogoVar | |||||||
TXNDC16_chr14_52425596_52557505 | 52493216 | T | TATATATA others(22): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0011 | 1 | 138 | 0.0072 | 29 | c.757 others(46): Show |
TXNDC16 | ENSG00000087301.9 | transcript | ENST00000281741.9 | protein_coding | 9/20 | chr14 | TogoVar | |||||||
TXNDC8_chr9_110298476_110342863 | 110299979 | A | ATATATAT others(22): Show |
downstream_gene_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 274 | 0.0036 | 29 | c.*37 others(40): Show |
TXNDC8 | ENSG00000204193.12 | transcript | ENST00000423740.7 | protein_coding | 3496 | chr9 | TogoVar | |||||||
TXNDC8_chr9_110298476_110342863 | 110299980 | T | TATATATA others(22): Show |
downstream_gene_variant | MODIFIER | HG03471.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0021 | 1 | 385 | 0.0026 | 29 | c.*37 others(40): Show |
TXNDC8 | ENSG00000204193.12 | transcript | ENST00000423740.7 | protein_coding | 3495 | chr9 | TogoVar | |||||||
TXNL4A_chr18_79965813_79993563 | 79969331 | A | AAAAGAAA others(22): Show |
downstream_gene_variant | MODIFIER | HG00738.hp2 HG02300.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0012 | 2 | 319 | 0.0063 | 29 | c.*43 others(40): Show |
TXNL4A | ENSG00000141759.15 | transcript | ENST00000269601.10 | protein_coding | 1481 | chr18 | TogoVar | |||||||
TXNL4A_chr18_79965813_79993563 | 79969394 | A | AGAAAGAA others(22): Show |
downstream_gene_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 164 | 0.0061 | 29 | c.*42 others(40): Show |
TXNL4A | ENSG00000141759.15 | transcript | ENST00000269601.10 | protein_coding | 1418 | chr18 | TogoVar | |||||||
TXNRD1_chr12_104210779_104355307 | 104254644 | A | AAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG00558.hp1 HG02922.hp1 HG03453.hp1 |
a0001 | a0001c0003a0001c0005 | a0001c0003t0001a0001c0003t0003a0001c0005t0001 | a0001c0003t0001g0148 a0001c0003t0003g0105 a0001c0005t0001g0099 |
3 | 208 | 0.0144 | 29 | c.243 others(46): Show |
TXNRD1 | ENSG00000198431.18 | transcript | ENST00000525566.6 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TXNRD1_chr12_104210779_104355307 | 104254644 | A | AAAAAAAA others(22): Show |
intron_variant | MODIFIER | NA18939.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0145 | 1 | 206 | 0.0049 | 29 | c.243 others(46): Show |
TXNRD1 | ENSG00000198431.18 | transcript | ENST00000525566.6 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TXNRD1_chr12_104210779_104355307 | 104254644 | A | AAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0298 | 1 | 206 | 0.0049 | 29 | c.243 others(46): Show |
TXNRD1 | ENSG00000198431.18 | transcript | ENST00000525566.6 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TXNRD1_chr12_104210779_104355307 | 104254644 | A | ATATATAT others(22): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0088 | 1 | 206 | 0.0049 | 29 | c.243 others(46): Show |
TXNRD1 | ENSG00000198431.18 | transcript | ENST00000525566.6 | protein_coding | 2/16 | chr12 | TogoVar | |||||||
TXNRD1_chr12_104210779_104355307 | 104267239 | T | TCTCTCTT others(22): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 299 | 0.0033 | 29 | c.304 others(46): Show |
TXNRD1 | ENSG00000198431.18 | transcript | ENST00000525566.6 | protein_coding | 3/16 | chr12 | TogoVar | |||||||
TXNRD1_chr12_104210779_104355307 | 104294233 | G | GGCGCCCC others(22): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0252 | 1 | 110 | 0.0091 | 29 | c.414 others(46): Show |
TXNRD1 | ENSG00000198431.18 | transcript | ENST00000525566.6 | protein_coding | 4/16 | chr12 | TogoVar | |||||||
TXNRD2_chr22_19870522_19946818 | 19909871 | C | CACTCACA others(22): Show |
intron_variant | MODIFIER | NA18978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 178 | 0.0056 | 29 | c.662 others(46): Show |
TXNRD2 | ENSG00000184470.21 | transcript | ENST00000400521.7 | protein_coding | 8/17 | chr22 | TogoVar | |||||||
TXNRD2_chr22_19870522_19946818 | 19909874 | T | TCACACAC others(22): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00597.hp1 HG00609.hp1 others(80): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0004a0001c0038others(15): Show | a0001c0001t0001a0001c0004t0002a0001c0004t0003others(18): Show | a0001c0001t0001g0052 a0001c0001t0001g0153 a0001c0001t0001g0218 others(78): Show |
83 | 349 | 0.2378 | 29 | c.662 others(46): Show |
TXNRD2 | ENSG00000184470.21 | transcript | ENST00000400521.7 | protein_coding | 8/17 | chr22 | TogoVar | |||||||
UACA_chr15_70649554_70768558 | 70735147 | T | TAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01070.hp2 HG03492.hp1 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0006 a0001c0001t0001g0147 a0001c0001t0001g0162 others(2): Show |
5 | 111 | 0.0450 | 29 | c.78+ others(46): Show |
UACA | ENSG00000137831.15 | transcript | ENST00000322954.11 | protein_coding | 1/18 | chr15 | TogoVar | |||||||
UACA_chr15_70649554_70768558 | 70735147 | T | TAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG01168.hp2 HG03654.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 a0001c0001t0001g0241 |
2 | 108 | 0.0185 | 29 | c.78+ others(46): Show |
UACA | ENSG00000137831.15 | transcript | ENST00000322954.11 | protein_coding | 1/18 | chr15 | TogoVar | |||||||
UBA2_chr19_34423381_34476251 | 34456100 | C | CTTTTTTT others(22): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 157 | 0.0064 | 29 | c.124 others(48): Show |
UBA2 | ENSG00000126261.13 | transcript | ENST00000246548.9 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
UBAC2_chr13_99195854_99391504 | 99330458 | C | CAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01361.hp1 NA18941.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0302 a0001c0001t0003g0112 a0001c0001t0003g0115 |
3 | 18 | 0.1667 | 29 | c.562 others(46): Show |
UBAC2 | ENSG00000134882.16 | transcript | ENST00000403766.8 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
UBAP2_chr9_33916693_34053887 | 33980220 | C | CTTTTTTT others(22): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0098 | 1 | 16 | 0.0625 | 29 | c.520 others(46): Show |
UBAP2 | ENSG00000137073.24 | transcript | ENST00000379238.7 | protein_coding | 6/28 | chr9 | TogoVar | |||||||
UBAP2_chr9_33916693_34053887 | 33981163 | G | GATATATA others(22): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0259 | 1 | 272 | 0.0037 | 29 | c.520 others(46): Show |
UBAP2 | ENSG00000137073.24 | transcript | ENST00000379238.7 | protein_coding | 6/28 | chr9 | TogoVar | |||||||
UBAP2_chr9_33916693_34053887 | 33981184 | G | GATATATA others(22): Show |
intron_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0146 | 1 | 180 | 0.0056 | 29 | c.520 others(46): Show |
UBAP2 | ENSG00000137073.24 | transcript | ENST00000379238.7 | protein_coding | 6/28 | chr9 | TogoVar |