| Predicted mutation | ||||||
|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | annotation | gene | description |
| RA | NC_000913_3_hsa_tpiA | 1,726,201 | T→G | L60R (CTT→CGT) | nemR → | transcriptional repressor for the nemRA‑gloA operon, quinone‑, glyoxal‑, and HOCl‑activated |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | NC_000913_3_hsa_tpiA | 1,726,201 | 0 | T | G | 91.1% | 177.5 / 7.9 | 56 | L60R (CTT→CGT) | nemR | transcriptional repressor for the nemRA‑gloA operon, quinone‑, glyoxal‑, and HOCl‑activated |
| Reads supporting (aligned to +/- strand): ref base T (4/1); new base G (26/25); total (30/26) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 3.58e-01 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 5.03e-01 | |||||||||||
ACATCTCCTGGCGACGGGCGAGCAACTTTGCCTGCAACGTGGATTCACCGGGATGGGGCTAAGCGAATTACTAAAAACCGCTGAAGTGCCGAAAGGGTCCTTCTATCACTACTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCTTGAGCGTCATTACGCCGCATATCACCAGCGACTGACTGAGTTGCTGCAATCCGGCGAAGGTAACTACCGCGACCGCATACTGGCTTATTACCAGCAAACACTGAACCAGTTTTGCCAACATGGAACCATCAGTGGTTGCCTGACAG > NC_000913_3_hsa_tpiA/1726055‑1726347 | aCATCTCCTGGTGACGGGCGAGCAACTATGCCTACAACGTGGATTCACCGGGATGGGGCTAAGCGAATTACTAAAAACCGCTGAAGTGCCGAAAGGGTCCTTCTATCACTACTTGCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCGTGa < 4:30636/150‑1 (MQ=255)aCATCTCCTGGCGACGGGCGAGAAACTTTGCCTGCAACGTGGATTCACCGGGATGGGGCTAAGCGAATTACTAAAAACCGCTGAAGTGCCGAAAGGGTCCTTCTATCACTACTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCGTGa > 1:457651/1‑150 (MQ=255) ccTGGCGACGGGCGAGCAACTTTGCCTGCAACGTGGATTCACCGGGATGGGGCTAAGCGAATTACTAAAAACCGCTGAAGTGCCGAAAGGGTCCTTCTATCACTACTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCGTGAGCGTCa < 2:233858/150‑1 (MQ=255) cGACGGGCGAGCAACTTTGCCTGCAACGTGGATTCACCGGGATGGGGCTAAGCGAATTACTAAAAACCGCTGAAGTGCCGAAAGGGTCCTTCTATCACTACTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCGTGAGCGTCATTAcg < 2:54700/150‑1 (MQ=255) ggCGAGCAACTTTGCCTGCAACGTGGATTCACCGGGATGGGGCTAAGCGAATTACTAAAAACCGCTGAAGTGCCGAAAGGGTCCTTCTATCACTACTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCGTGAGCGTCATTAcgccgc > 1:132013/1‑149 (MQ=255) ggCGAGCAACTTTGCCTGCAACGTGGATTCACCGGGATGGGGCTAAGCGAATTACTAAAAACCGCTGAAGTGCCGAAAGGGTCCTTCTATCACTACTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCGTGAGCGTCATTAcgccgc < 2:132013/149‑1 (MQ=255) aGCAACTTTGCCTGCAACGTGGATTCACCGGGATGGGGCTAAGCGAATTACTAAAAACCGCTGAAGTGCCGAAAGGGTCCTTCTATCACTACTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCGTGAGCGTCATTACGCCGCATATc < 4:310159/150‑1 (MQ=255) aaCTTTGCCTGCAACGTGGATTCACCGGGATGGGGCTAAGCGAATTACTAAAAACCGCTGAAGTGCCGAAAGGGTCCTTCTATCACTACTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCGTGAGCGTCATTACGCCGCATATCAcc > 2:193833/1‑150 (MQ=255) cTTTGCCTGCAACGTGGATTCACCGGGATGGGGCTAAGCGAATTACTAAAAACCGCTGAAGTGCCGAAAGGGTCCTTCTATCACTACTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCGTGAGCGTCATTACGCCGCATATCACCAg < 1:194655/150‑1 (MQ=255) tGCCTGCAACGTGGATTCACCGGGATGGGGCTAAGCGATTTACTAAAAACCGCTGAAGTGCCGAACGGGTCCTTCTATCACTACTATCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCGTGAGCGTCATTACGCCGCATATCACCAGCga < 4:116481/150‑1 (MQ=255) tGCAACGTGGATTCACCGGGATGGGGCTAAGCGAATTACTAAAAACCGCTGAAGTGCCGAAAGGGTCCTTCTATCACTACTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCGTGAGTGTCATTACGCCGCATATCACCAGCgactga < 3:260230/150‑1 (MQ=255) tGCAACGTGGATTCACCGGGATGGGGCTAAGCGAATTACTAAAAACCGCTGAAGTGCCGAAAGGGTCCTTCTATCACTACTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCGTGAGCGTCATTACGCCGCATATCACCAGCgactga > 1:696864/1‑150 (MQ=255) aCGTGGATTCACCGGGATGGGGCTAAGCGAATTACTAAAAACCGCTGAAGTGCCGAAAGGGTCCTTCTATCACTACTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCGTGAGCGTCATTACGCCGCATATCACCAGCGActgactga < 3:311261/150‑1 (MQ=255) cGTGGATTCACCGGGATGGGGCTAAGCGAATTACTAAAAACCGCTGAAGTGCCGAAAGGGTCCTTCTATCACTACTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCGTGAGCGTCATTACGCCGCATATCACCAGCGACTGACTGAg < 1:698051/150‑1 (MQ=255) ttCACCGGGATGGGGCTAAGCGAATTACTAAAAACCGCTGAAGTGCCGAAAGGGTCCTTCTATCACTACTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCGTGAGCGTCATTACGCCGCATATCACCAGCGACTGACTGAGTtgctg < 1:86021/150‑1 (MQ=255) tCACCGGGATGGGGCTAAGCGAATTACTAAAAACCGCTGAAGTGCCGAAAGGGTCCTTCTATCACTACTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCGTGAGCGTCATTACGCCGCATATCACCAGCGACTGACTGAGTtgctgc > 1:164203/1‑150 (MQ=255) cGGGATGGGGCTAAGCGAATTACTAAAAACCGCTGAAGTGCCGAAAGGGTCCTTCTATCACTACTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCGTGAGCGTCATTACGCCGCATATCACCAGCGACTGACTGAGTTGCTGCAATc > 1:555635/1‑150 (MQ=255) cTAAGCGAATTACTAAAAACCGCTGAAGTGCCGAAAGGGTCCTTCTATCACTACTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCGTGAGCGTCATTACGCCGCATATCACCAGCGACTGACTGAGTTGCTGCAATCCGGCGAAGGt < 2:696864/150‑1 (MQ=255) aaTTACTAAAAACCGCTGAAGTGCCGAAAGGGTCCTTCTATCACTACTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCGTGAGCGTCATTACGCCGCATATCACCAGCGACTGACTGAGTTGCTGCAATCCGGCGAAGGTAACTAcc > 2:566763/1‑150 (MQ=255) ttACTAAAAACCGCTGAAGTGCCGAAAGGGTCCTTCTATCACTACTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCGTGAGCGTCATTACGCCGCATATCACCAGCGACTGACTGAGTTGCTGCAATCCGGCGAAGGTAACTACcgc < 4:93223/150‑1 (MQ=255) cTAAAAACCGCTGAAGTGCCGAAAGGGTCCTTCTATCACTACTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCGTGAGCGTCATTAcgccgc > 1:64137/1‑95 (MQ=255) cTAAAAACCGCTGAAGTGCCGAAAGGGTCCTTCTATCACTACTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCGTGAGCGTCATTAcgccgc < 2:64137/95‑1 (MQ=255) tAAAAACCGCTGAAGTGCCGAAAGGGTCCTTCTATCACTACTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCGTGAGCGTCATTACGCCGCATATCACCAGCGACTGACTGAGTTGCTGCAATCCGGCGAAGGTAACTACCGCGAcc < 2:273181/150‑1 (MQ=255) tAAAAACCGCTGAAGTGCCGAAAGGGTCCTTCTATCACTACTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCGTGAGCGTCATTACGCCGCATATCACCAGCGACTGACTGAGTTGCTGCAATCCGGCGAAGGTAACTACCGCGAcc > 3:128116/1‑150 (MQ=255) aaaaaCCGCTGAAGTGCCGAAAGGGTCCTTCTATCACTACTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCGTGAGCGTCATTACGCCGCATATCACCAGCGACTGACTGAGTTGCTGCAATCCGGCGAAGGTAACTACCGCGACCg > 3:469249/1‑150 (MQ=255) aaaaCCGCTGAAGTGCCGAAAGGGTCCTTCTATCACTACTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCGTGAGCGTCATTACGCCGCATATCACCAGCGACTGACTGAGTTGCTGCAATCCGGCGAAGGTAACTACCGCGACCGc > 1:611057/1‑150 (MQ=255) aaaaCCGCTGAAGTGCCGAAAGGGTCCTTCTATCACTACTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCGTGAGCGTCATTACGCCGCATATCACCAGCGACTGACTGAGTTGCTGCAATCCGGCGAAGGTAACTACCGCGACCGc < 1:209544/150‑1 (MQ=255) cGCTGAAGTGCCGAAAGGGTCCTTCTATCACTACTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCGTGAGCGTCATTACGCCGCATATCACCAGCGACTGACTGAGTTGCTGCAATCCGGCGAAGGTAACTACCGCGACCGCATACt < 2:555635/150‑1 (MQ=255) tGAAGTGCCGAAAGGGTCCTTCTATCACTACTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCGTGAGCGTCATTACGCCGCATATCACCAGCGACTGACTGAGTTGCTGCAATCCGGCGAAGGTAACTACCGCGACCGCATACTGGc > 3:330296/1‑150 (MQ=255) tGAAGTGCCGAAAGGGTCCTTCTATCACTACTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCGTGAGCGTCATTACGCCGCATATCACCAGCGACTGACTGAGTTGCTGCAATCCGGCGAAGGTAACTACCGCGACCGCATACTGGc > 4:461259/1‑150 (MQ=255) gAAGTGCCGAAAGGGTCCTTCTATCACTACTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCGTGAGCGTCATTACGCCGCATATCACCAGCGACTGACTGAGTTGCTGCAATCCGGCGAAGGTAACTACCGCGACCGCATACTGGCt < 2:676347/150‑1 (MQ=255) ccGAAAGGGTCCTTCTATCACTACTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCGTGAGCGTCATTACGCCGCATATCACCAGCGACTGACTGAGTTGCTGCAATCCGGCGAAGGTAACTACCGCGACCGCATACTGGCTTATTAc < 1:121806/150‑1 (MQ=255) ccGAAAGGGTCCTTCTATCACTACTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCGTGAGCGTCATTACGCCGCATATCACCAGCGACTGACTGAGTTGCTGCAATCCGGCGAAGGTAACTACCGCGACCGCATACTGGCTTATTAc > 1:78626/1‑150 (MQ=255) gAAAGGGTCCTTCTATCACTACTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCTTGAGCGTCATTACGCCGCATATCACCAGCGACTGACTGAGTTGCTGCAATCCGGCGAAGGTAACTACCGCGACCGCATACTGGCTTATTACCa > 4:169949/1‑150 (MQ=255) aaaGGGTCCTTCTATCACTACTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCGTGAGCGTCATTACGCCGCATATCACCAGCGACTGACTGAGTTGCTGCAATCCGGCGaa > 3:452399/1‑114 (MQ=255) aaaGGGTCCTTCTATCACTACTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCGTGAGCGTCATTACGCCGCATATCACCAGCGACTGACTGAGTTGCTGCAATCCGGCGaa < 4:452399/114‑1 (MQ=255) aaaGGGTCCTTCTATCACTACTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCGTGAGCGTCATTACGCCGCATATCACCAGCGACTGACTGAGTTGCTGCAATCCGGCGAAGGTAACTACCGCGACCGCATACTGGCTTATTACCAg > 2:642631/1‑150 (MQ=255) gggTCCTTCTATCACTACTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCTTGAGCGTCATTACGCCGCATATCACCAGCGACTGACTGAGTTGCTGCAATCCGGCGAAGGTAACTACCGCGACCGCATACTGGCTTATTACCAGCaa > 4:497238/1‑150 (MQ=255) gTCCTTCTATCACTACTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCGTGAGCGTCATTACGCCGCATATCACCAGCGACTGACTGAGTTGCTGCAATCCGGCGAAGGTAACTACCGCGACCGCATACTGGCTTATTACCAGCAAac > 4:440999/1‑150 (MQ=255) tCACTACTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCGTGAGCGTCATTACGCCGCATATCACCAGCGACTGACTGAGTTGCTGCAATCCGGCGAAGGTAACTACCGCGACCGCATACTGGCTTATTACCAGCAAACACTGAACCa > 1:116268/1‑150 (MQ=255) cACTACTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCGTGAGCGTCATTACGCCGCATATCACCAGCGACTGACTGAGTTGCTGCAATCCGGCGAAGGTAACTACCGCGACCGCATACTGGCTTATTACCAGCAAACACTGAACCAg > 2:782678/1‑150 (MQ=255) cACTACTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCGTGAGCGTCATTACGCCGCATATCACCAGCGACTGACTGAGTTGCTGCAATCCGGCGAAGGTAACTACCGCGACCGCATACTGGCTTATTACCAGCAAACACTGAACCAg > 4:266694/1‑150 (MQ=255) ttCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCGTGAGCGTCATTACGCCGCATATCACCAGCGACTGACTGAGTTGCTGCAATCCGGCGAAGGTAACTACCGCGACCGCATACTGGCTTATTACCAGCAAACACTGAACCAGTTTTGcc < 1:566763/150‑1 (MQ=255) ctctAAAGAAGCGTTTGGCGTTGCCATGCGTGAGCGTCATTACGCCGCATATCACCAGCGACTGACTGAGTTGCTGCAATCCGGCGAAGGTAACTACCGCGACCGCATACTGGCTTATTACCAGCAAACACTGAACCAGTTTTGCCAACa < 2:78626/150‑1 (MQ=255) tctAAAGAAGCGTTTGGCGTTGCCATGCTTGAGCGTCATTACGCCGCATATCACCAGCGACTGACTGAGTTGCTGCAATCCGGCGAAGGTAACTACCGCGACCGCATACTGGCTTATTACCAGCAAACACTGAACCAGTTTTGCCAACAt > 2:326921/1‑150 (MQ=255) aagaagCGTTTGGCGTTGCCATGCGTGAGCGTCATTACGCCGCATATCACCAGCGACTGACTGAGTTGCTGCAATCCGGCGAAGGTAACTACCGCGACCGCATACTGGCTTATTACCAGCAAACACTGAACCAGTTTTGCCAACATGGaa > 3:54674/1‑150 (MQ=255) aagaagCGTTTGGCGTTGCCATGCGTGAGCGTCATTACGCCGCATATCACCAGCGACTGACTGAGTTGCTGCAATCCGGCGAAGGTAACTACCGCGACCGCATACTGGCTTATTACCAGCAAACACTGAACCAGTTTTGCCAACATGGaa > 2:314789/1‑150 (MQ=255) gaagCGTTTGGCGTAGCCATGCGTGAGCGTCATTACGCCGCATATCACCAGCGACTGACTGAGTTGCTGCAATCCGGCGAAGGTAACTACCGCGACCGCATACTGGCTTATTACCAGCAAACACTGAACCAGTTTTGCCAACATGGAAcc > 4:37270/1‑150 (MQ=255) aagCGTTTGGCGTTGCCATGCGTGAGCGTCATTACGCCGCATATCACCAGCGActgactga > 2:93575/1‑61 (MQ=255) aagCGTTTGGCGTTGCCATGCGTGAGCGTCATTACGCCGCATATCACCAGCGActgactga < 1:93575/61‑1 (MQ=255) agCGTTTGGCGTTGCCATGCTTGAGCGTCATTACGCCGCATATCACCAGCGACTGACTGAGTTGCTGCAATCCGGCGAAGGTAACTACCGCGACCGCATACTGGCTTATTACCAGCAAACACTGAACCAGTTTTGCCAACATGGAACCAt < 3:169949/150‑1 (MQ=255) tttGGCGTTGCCATGCGTGAGCGTCATTACGCCGCATATCACCAGCGACTGACTGAGTTGCTGCAATCCGGCGAAGGTAACTACCGCGACCGCATACTGGCTTATTACCAGCAAACACTGAACCAGTTTTGCCAACATGGAACCATCAGt > 2:646562/1‑150 (MQ=255) tGCCATGCGTGAGCGTCATTACGCCGCATATCACCAGCGACTGACTGAGTTGCTGCAATCCGGCGAAGGTAACTACCGCGACCGCATACTGGCTTATTACCAGCAAACACTGAACCAGTTTTGCCAACATGGAACCATCAGTGGTTGCCt < 4:124284/150‑1 (MQ=255) ccATGCGTGAGCGTCATTACGCCGCATATCACCAGCGACTGACTGAGTTGCTGCAATCCGGCGAAGGTAACTACCGCGACCGCATACTGGCTTATTACCAGCAAACACTGAACCAGTTTTGCCAACATGGAACCATCAGTGGTTGCCTGa < 4:469249/150‑1 (MQ=255) cATGCTTGAGCGTCATTACGCCGCATATCACCAGCGACTGACTGAGTTGCTGCAATCCGGCGAAGGTAACTACCGCGACCGCATACTGGCTTATTACCAGCAAACACTGAACCAGTTTTGCCAACATGGAACCATCAGTGGTTGCCTGAc > 3:178047/1‑150 (MQ=255) tGCGTGAGCGTCATTACGCCGCATATCACCAGCGACTGACTGAGTTGCTGCAATCCGGCGAAGGTAACTACCGCGACCGCATACTGGCTTATTACCAGCAAACACTGAACCAGTTTTGCCAACATGGAACCATCAGTGGTTGCCTGACAg > 2:478339/1‑150 (MQ=255) | ACATCTCCTGGCGACGGGCGAGCAACTTTGCCTGCAACGTGGATTCACCGGGATGGGGCTAAGCGAATTACTAAAAACCGCTGAAGTGCCGAAAGGGTCCTTCTATCACTACTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCTTGAGCGTCATTACGCCGCATATCACCAGCGACTGACTGAGTTGCTGCAATCCGGCGAAGGTAACTACCGCGACCGCATACTGGCTTATTACCAGCAAACACTGAACCAGTTTTGCCAACATGGAACCATCAGTGGTTGCCTGACAG > NC_000913_3_hsa_tpiA/1726055‑1726347 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 22 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |