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 | 97.5% | 118.1 / NA | 42 | L179L (CTG→TTG) | yiiQ | DUF1454 family putative periplasmic protein |
Reads supporting (aligned to +/- strand): ref base G (1/0); major base A (19/20); minor base C (1/0); total (21/21) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.00e+00 |
TGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAGCCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAG‑TTTTTTCTGGCTTTGTGTTTTGGTCATTAATGGGGTGA > NC_000913_3_hsa_tpiA/4111526‑4111796 | tGGCCGCCCGGCAGGGGAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCATAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGTCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGcc < 2:699877/149‑1 (MQ=255) gccgccCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGt < 1:116294/149‑1 (MQ=255) cccGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGc > 1:758166/1‑141 (MQ=255) cccGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGc < 2:758166/141‑1 (MQ=255) cccGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGAGTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGACTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAGGGGCACCCCCTTTTCGCCCTTGTcc > 2:606988/1‑149 (MQ=255) ccGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCCTCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCcg > 2:554794/1‑149 (MQ=255) ccGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCcg < 2:514563/149‑1 (MQ=255) cGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCcgc < 2:729021/149‑1 (MQ=255) cagGTCTGCAAAACAGTATACAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTTAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCTCCGTTGTCCGCGACAACATaa < 2:156218/149‑1 (MQ=255) tgtcacaCAATATAGAGATTGCTCGGCAAAAATGCTTTGCTTTTTGTCATTTATTCAACCCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGt < 1:555000/143‑1 (MQ=255) gtgAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTGCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTg > 1:713009/1‑149 (MQ=255) aGTATAGAGACTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTc < 1:128543/149‑1 (MQ=255) tataGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGGGGTAAATAGAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAGCCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTg > 1:691620/1‑149 (MQ=255) ataGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGt > 1:316968/1‑149 (MQ=255) taGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGCCAACATAACGCAGTGCACATTCTGtc > 2:360124/1‑149 (MQ=255) gagaTTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGtctc < 1:505631/149‑1 (MQ=255) aTTCCTCGGCACAAAGGCTTTGCTCCATCGTTTTTGTTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCATCCCCTTTTCGCCGTTGTCCGCGCAAACATAACGCAGTGCACCTATTGTCTCGgt < 2:790368/149‑1 (MQ=255) caAAGGCTTTGCTTTTTTTTTTTTTTTTAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCATCAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACATCTTTATTCAGTGCACCTTCTGTCTCGGTGTAATTACgtt > 2:21489/1‑149 (MQ=255) ttggcatttgGTCATTTATTCAAGCCTTAAAGTCTTTCAGATTGCGCCAGTTTAATCGGTTCAAAAGCGTAGGTCAAGCCCCTTGCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGttttt < 2:189764/143‑1 (MQ=255) tttttGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCccg < 1:397916/149‑1 (MQ=255) tCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACCACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTta > 1:750224/1‑149 (MQ=255) tttATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCttt < 2:84298/70‑1 (MQ=255) tttATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCttt > 1:84298/1‑70 (MQ=255) ttCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGa > 2:683574/1‑149 (MQ=255) aaaCCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGTTGTAATAACTTTGGTTTTTCCCCGCCGTTATTATCGACTg > 1:486367/1‑149 (MQ=255) aaCCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTCATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGAATGc > 1:764054/1‑149 (MQ=255) cTTCAAGCGAGTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAG‑t < 1:243872/149‑1 (MQ=255) ttCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAATGCACCATCTGTCTCGGAGTAATAAAGTTTGTTTTTACACGACGTTAGTAGCGCATGCAG‑tt > 2:494484/1‑149 (MQ=255) cAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAG‑tttt < 1:480116/149‑1 (MQ=255) cAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAG‑tttt < 1:455653/149‑1 (MQ=255) aGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGt > 1:528011/1‑76 (MQ=255) aGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGt < 2:528011/76‑1 (MQ=255) gATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACt > 1:730812/1‑130 (MQ=255) gATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACt < 2:730812/130‑1 (MQ=255) gATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGAGACTGCAG‑TTTTTTCTGCCTTtg > 2:806587/1‑149 (MQ=255) gcCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGGCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAG‑TTTTTTCTGGCTTTGTGtttt < 1:174987/149‑1 (MQ=255) gcggcgtAATCGGTGCAAAAGCGAAGGTCAACCCTTTGTCGCCGTTGTCCGAAGCGCCTTAACGCAGTGCACCTTCTGTCTCGTTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAG‑TTTTTTCTGGCTTTGTGTTTTg < 1:191077/143‑1 (MQ=255) cAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAG‑TTTTTTCTGGCTTTGTGTTTTgg > 1:182137/1‑149 (MQ=255) aTCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAG‑TTTTTTCTGGCTTTGTGTTTTGGTCATTaa > 2:291499/1‑149 (MQ=255) tCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAG‑TTTTTTCTGGCTTTGTGTTTTGGTCCTTAAt > 2:750635/1‑149 (MQ=255) gTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAG‑TTTTTTCTGGCTTTGTGTTTTGGTCATTAATggg < 1:797570/149‑1 (MQ=255) aCAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACTACATAACGCAGTGCACCTTCTGTCTCGGTGTACTAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGTTTTTTTCTGGCTTTGTGTTTTGGTCATTAATGGGGTGa > 2:726256/1‑149 (MQ=255) | TGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAGCCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAG‑TTTTTTCTGGCTTTGTGTTTTGGTCATTAATGGGGTGA > NC_000913_3_hsa_tpiA/4111526‑4111796 |
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: ‑ |