Predicted mutation | ||||||
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evidence | seq id | position | mutation | annotation | gene | description |
RA | NC_000913_3_hsa_tpiA | 4,111,482 | G→T | intergenic (+797/+115) | cdh → / ← yiiQ | CDP‑diacylglycerol phosphotidylhydrolase/DUF1454 family putative periplasmic protein |
Read alignment evidence... | |||||||||||
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seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
* | NC_000913_3_hsa_tpiA | 4,111,482 | 0 | G | T | 97.7% | 125.3 / NA | 45 | intergenic (+797/+115) | cdh/yiiQ | CDP‑diacylglycerol phosphotidylhydrolase/DUF1454 family putative periplasmic protein |
Reads supporting (aligned to +/- strand): ref base G (0/0); major base T (20/23); minor base C (1/0); total (22/23) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 4.77e-01 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.99e-01 |
AGTCGATATAGGCAGTAGGGGGAGCACAAACCACCTCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATA > NC_000913_3_hsa_tpiA/4111339‑4111628 | aGTCGATATAGGCAGTAGGGGGAGCACAAACCACCTCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCa > 2:208473/1‑150 (MQ=255) gTCGATATAGGCAGTAGGGGGAGCACAAACCACCTCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCAt > 1:216761/1‑150 (MQ=255) tCGATATAGGCAGTAGGGGGAGCACAAACCACCTCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCAtt > 1:30567/1‑150 (MQ=255) atatAGGCAGTAGGGGGAGCACAAACCACCTCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAATGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTa > 1:244576/1‑150 (MQ=255) taGGCAGTAGGGGGAGCACAAACCACCTCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAAtt < 1:207711/150‑1 (MQ=255) gTAGGGGGAGCACAAACCACCTCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCAc < 1:119115/150‑1 (MQ=255) ggggAGCACAAACCACCTCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCtt < 1:208473/150‑1 (MQ=255) ggAGCACAAACCACCTCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGGGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTtat > 1:587666/1‑150 (MQ=255) ggAGCACAAACCACCTCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTtat < 2:30567/150‑1 (MQ=255) aaCCACCTCGGTGGCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAACTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACGTCCTGGAGAGCGCCATTTTAGTTTTCCACGCTTGTAAGCGAAt > 1:587863/1‑150 (MQ=255) accaccTCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATa > 2:467134/1‑150 (MQ=255) caccTCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATaaa < 2:490224/150‑1 (MQ=255) cTCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCtt < 1:589449/134‑1 (MQ=255) cTCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCtt > 2:589449/1‑134 (MQ=255) gggcggccgggAACGTGGCCGCGGTTAGAGTGGCGATGAGCTCCCCCAGACGCTGATTCCGCTCGTTCATCTTCCAGTTTCCCACAACGAAGAACTTCTTGGAGTGCGCCCTTTTAATTCTTCACGCTTATAAGCGAATAAAGGAAGATg < 2:94602/147‑1 (MQ=255) cggccggcACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGgcc < 1:63525/150‑1 (MQ=255) ttGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAggg < 1:169047/150‑1 (MQ=255) cgcgTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAg > 1:36248/1‑143 (MQ=255) cgcgTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAg < 2:36248/143‑1 (MQ=255) ttCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATCCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTc > 2:462404/1‑150 (MQ=255) tCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCt < 1:467134/150‑1 (MQ=255) tGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAACGGAAGATGCCCGCCCCGCAGGGCAGCAGGTccggtaac > 2:24280/1‑143 (MQ=255) tGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGaaa > 1:58774/1‑150 (MQ=255) caTGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGt < 1:72521/149‑1 (MQ=255) tCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAgaga > 2:535776/1‑150 (MQ=255) tCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGCGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGCCAGCAGGTCTGTGAAACAGTATAgaga > 2:340867/1‑150 (MQ=255) ccccccAGACTCTGCTTCCGCCCGTTCACCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAgaga < 2:443237/149‑1 (MQ=255) ccAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAATCAGTATAGAGATTCa > 2:687401/1‑150 (MQ=255) ccAGACTCTGCTTCCGCCCATTCATCTTCCAGTGTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCa > 2:588302/1‑150 (MQ=255) aCTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCgg > 1:297133/1‑150 (MQ=255) aCTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCgg < 2:191730/150‑1 (MQ=255) tGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCtgt > 1:78515/1‑123 (MQ=255) tGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCtgt < 2:78515/123‑1 (MQ=255) cTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACaaa < 2:216761/150‑1 (MQ=255) cGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCGGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGgct < 2:127502/150‑1 (MQ=255) gTTAATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGgctttgct > 2:46993/1‑150 (MQ=255) aTCTTCCACTTTCTCCAAACGAAGAAAGTCCTGGAGTGCGCCATTTTAACTCTCCACGCTTATAAGCGAAAAATGGAAGACGGCCGGCGCGCAAGGCAACAGGTCGGTGAAACAGTATAGAGATACAGCGGCACCAATGCTTTGCttttt < 2:587863/150‑1 (MQ=255) ttCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTc < 2:587666/150‑1 (MQ=255) ccAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGgccgcc < 2:670903/83‑1 (MQ=255) ccAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGgccgcc > 1:670903/1‑83 (MQ=255) ccAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAAc < 1:315852/150‑1 (MQ=255) ccAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAAc < 1:588302/150‑1 (MQ=255) agaaCTTCCTGGAATACACCATATTAGTTCTCCACGCTTATAAGCGAATAGAGGAAGAGAGCCGCCCCCGAGGGCAGCAGGTCTGTGACACAGTATAGAGATTCATCAGCACAAAGGCTATACTTTTTATCATTTATTCTAACCTTCGAg > 1:574247/1‑150 (MQ=255) cTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGACTAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCCTTTATTCAAACCTTCAAGCgtt > 2:200883/1‑148 (MQ=255) gAGTGCGCCGCTTTGAGTCTCCATGCGTATATGCTAATAAAGGAAGATGGCTGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATa < 2:374401/150‑1 (MQ=255) | AGTCGATATAGGCAGTAGGGGGAGCACAAACCACCTCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATA > NC_000913_3_hsa_tpiA/4111339‑4111628 |
Alignment Legend |
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Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 13 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |