Predicted mutation | ||||||
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evidence | seq id | position | mutation | annotation | gene | description |
RA | NC_000913_3_hsa_tpiA | 4,111,662 | G→A | L179L (CTG→TTG) | yiiQ ← | 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 | 4,111,662 | 0 | G | A | 96.3% | 159.9 / NA | 55 | L179L (CTG→TTG) | yiiQ | DUF1454 family putative periplasmic protein |
Reads supporting (aligned to +/- strand): ref base G (0/0); major base A (32/20); minor base T (0/2); total (32/23) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 1.61e-01 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.00e+00 |
AGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAGCCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAAT‑AACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGTTTTTTCTGGCTTTGTGTTTTGGTCATTAATGGGGTGAGTGTGCGGATC > NC_000913_3_hsa_tpiA/4111523‑4111807 | aGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTc < 2:556293/149‑1 (MQ=255) tGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGcc < 1:790319/149‑1 (MQ=255) cgccCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTg > 2:710119/1‑149 (MQ=255) ccccGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTc < 1:386940/149‑1 (MQ=255) cggaGGGCAGGAGGTCTGTGAAACAGTATAGGGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTTTTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCcgc < 2:755233/146‑1 (MQ=255) cGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCcgc > 1:27894/1‑149 (MQ=255) cGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCcgc > 2:159026/1‑149 (MQ=255) gCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCcgcg > 2:400414/1‑149 (MQ=255) ggCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGacac > 2:157382/1‑148 (MQ=255) cagGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATaa > 1:634022/1‑149 (MQ=255) aaagTCGGTGAAACAGTACAGGGATTCATCGGCTCAAAGGGTTTGCTTGTTGTCATTTATTCAAACCTGCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGCAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATaa < 2:603682/146‑1 (MQ=255) tCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCa < 2:507653/149‑1 (MQ=255) tgtgAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGt > 1:57428/1‑149 (MQ=255) tgAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATGTATTCAAACCTTCAAGCGGTTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGGAGGTCAACCCCTTTTAGCCGTTGTCCGCAACAACATAACGCGGTga > 1:622170/1‑148 (MQ=255) aaaCAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCa < 1:551063/148‑1 (MQ=255) aaaCAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCa > 2:551063/1‑148 (MQ=255) aaaCAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCAc < 1:400414/149‑1 (MQ=255) aCAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCt > 1:623215/1‑149 (MQ=255) taGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGtc < 2:27894/149‑1 (MQ=255) agagATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTATTCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCAGCGACAACATAACGCAGTACACCTTCTGtct > 2:380586/1‑149 (MQ=255) agaTTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCCGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCAGTTGTCCGCGACAACATAACGCAGAGCACGTTCTGTCTCg > 1:551848/1‑149 (MQ=255) aGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAAT‑AACgtttgt < 1:653039/149‑1 (MQ=255) ctttgctttTTGTCATTTATTCAAATCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCACCAGCGAAGGTCAACCCCATTTCGCCGTTGTCCGCGACGACATAACGCAGTGCACCTTCTGTCTCGGTGTAAT‑AACGTTTGtttt < 1:936722/149‑1 (MQ=255) ttgctttTTGTCATTTATTCAAACCGTCCCGCAATTCAGATCGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCTCCGTTGTCCGCGACAACAGACCGCAGTGCACCTTCTGTCTCGGTGTAAT‑AACGTTTGTTTTTc < 1:769680/149‑1 (MQ=255) ctttTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGCCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAAT‑AACGTTTGTTTTTcccc > 1:788994/1‑149 (MQ=255) aTTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAAT‑AACgttt < 1:589785/130‑1 (MQ=255) aTTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAAT‑AACgttt > 2:589785/1‑130 (MQ=255) tttATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTCAT‑ACCGTTTGTTTTTCCCCGCCGTttgta > 1:830473/1‑149 (MQ=255) tttATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAAT‑AACGTTTGTTTTTCCCCGCCGTtggta > 1:317135/1‑149 (MQ=255) ttATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAAT‑AACGTTTGTTTTTcccc > 2:346789/1‑138 (MQ=255) ttATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAAT‑AACGTTTGTTTTTcccc < 1:346789/138‑1 (MQ=255) ttCAAACCTTCAAGCGATTCAGATGGCGCCAGCTTAATCTTTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAAT‑AACGTTTGTTTTTCCCCGCCGTTAGTAGCGa < 2:623215/149‑1 (MQ=255) ttCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATAGGTACAACAGCGAAGGAAAACCCCGTGGCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTGTCGGTGTAAT‑AACGTTTGTTTTTCCCCGCCGTTAGTAGCGa > 1:149489/1‑149 (MQ=255) aaCCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTACT‑AACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGc > 1:285428/1‑149 (MQ=255) ctgtCAAGGGATTCAGATAGCTCCGGCTTAATCGTTTCATCAGCGAAGTTTACTCCATTTTCGCCGTTGTCCGCGACCACCTAACGCAGTGCACCTTCTGTCTCGGTGTAAT‑AACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAg < 2:265331/146‑1 (MQ=255) ttCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAAT‑AACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGtt > 1:768707/1‑149 (MQ=255) tCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCTTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAAT‑AACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGttt > 2:693038/1‑149 (MQ=255) aGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGT‑TCGGCGCGTTGAACGATTGTTTTTCGCCGCCGTTAGTAGCGACTGCAGtttttt > 1:1013554/1‑149 (MQ=255) gCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAAT‑AACGTTTGTTTTTCCCCGCCGTtagt < 2:330012/131‑1 (MQ=255) gCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAAT‑AACGTTTGTTTTTCCCCGCCGTtagt > 1:330012/1‑131 (MQ=255) aGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAAT‑AACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGTTTTTTCTGGCttt > 1:91428/1‑149 (MQ=255) gATAGGGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAAT‑AACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGTTTTTTCTGGCTTtg > 2:402742/1‑149 (MQ=255) aGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAAT‑AACGTTTGTTTTTCCACGCCGTTGGTGGCGACTGCAGTTTTTTCTGGGtttatcg > 2:454353/1‑145 (MQ=255) gCTTAATCCGTTCAACAGCGAAGGTCCACCCCTTTCCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAAT‑AACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGTTTTTTCTGGCTTTGTGTTTTGGTc < 1:380586/149‑1 (MQ=255) cTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAAT‑AACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGTTTTTTCTGGCTTTGTGTTTTGGTCa > 2:151414/1‑149 (MQ=255) aaTCGGTCGAATAGGGATGGACAACCCCTTTTCTCTGTTGTCCGGGCAAACATAACGCAGTTCACCTTCTGTCTCGGTGTAAT‑AACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGTTTTTTCTGGCTTTGTGTTTTGGTCATTa < 2:325957/149‑1 (MQ=255) aTCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAAT‑AACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGTTTTTTCTGGCTTTGTGTTTTGGTCATTaa > 1:731585/1‑149 (MQ=255) tCGGTTCAACAGCGAAGGTCATCCCCTTTTCGCCGTTGTCCGCGACCACATGTCGCAGTCCTCCTTCTGTCTCGGTGTAAT‑CAGGTTTGTTTTTCCCCGCCGTTAGTCGCGACTGCAGTTTTTTCTGGCTTTGTGTTTTGGTCATTAAt < 2:984677/149‑1 (MQ=255) gtggTTCAACAGCGAAGGTCATCCCCTTTTCGCCGTTGTCCGCGGCAACATCACGCAGTGCTCCTTCTGTCTCGGTGTAAT‑AATGTTTGTTTTTCCCCGCCGTTAGTCGCGACTGCAGTTTTTTCTGGCTTTGTGTTTTGGTCATTAAt < 2:984679/147‑1 (MQ=255) gTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGGGACCATATGCGCCAGTGCACCTTCTGTCTCGGTGTAAT‑AACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGTTTTTTCTGGCTTTGTGTTTTGGTCATTAATggg < 1:660352/149‑1 (MQ=255) aCAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAAT‑ACCGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGTTTTTT‑TGGCTTTGTGTTTTGGTCATTAATGGGGTGAgt > 1:536676/1‑149 (MQ=255) aCAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAAT‑AACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGTTTTTTCTGGCTTTGTGTTTTGGTCATTAATGGGGTGAg > 2:809548/1‑149 (MQ=255) cAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAAT‑AACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGTTTTTTCTGGCTTTGTGTTTTGCTCATTAATGGGGTGAgt > 2:138579/1‑149 (MQ=255) gAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAAT‑AACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGTTTTTTCTGGCTTTGTGATTTGGTCATTAATGGGGTGAGTGTGc > 1:547353/1‑149 (MQ=255) tCAACCCCTTTTCGCCGTTGTCCTCGACAAAATAACGCAGTGCCCCTTCTGTCTCGGTGTAAT‑AACGTTTTTTTTTCCCCGCCGTTAGTAGCGACTGCAGTTTTTTCTGGCTTTGTGTTTTGGTCATTAATGGGGTGAGTGTGCGGATc < 2:768707/149‑1 (MQ=255) | AGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAGCCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAAT‑AACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGTTTTTTCTGGCTTTGTGTTTTGGTCATTAATGGGGTGAGTGTGCGGATC > NC_000913_3_hsa_tpiA/4111523‑4111807 |
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: ‑ |