| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | NC_000913_3_hsa_tpiA | 1,726,165 | A→G | 43.6% | Y48C (TAC→TGC) | 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 | 1,726,165 | 0 | A | G | 43.6% | ‑0.3 / 20.7 | 23 | Y48C (TAC→TGC) | nemR | transcriptional repressor for the nemRA‑gloA operon, quinone‑, glyoxal‑, and HOCl‑activated |
| Reads supporting (aligned to +/- strand): ref base A (4/9); new base G (3/7); total (7/16) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 7.45e-01 | |||||||||||
ACATGATACTCGCGAACATCTCCTGGCGACGGGCGAGCAACTTTGCCTGCAACGTGGATTCACCGGGATGGGGCTAAGCGAATTACTAAAAACCGCTGAAGTGCCGAAAGGGTCCTTCTATCACTACTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCTTGAGCGTCATTACGCCGCATATCACCAGCGACTGACTGAGTTGCTGCAATCCGGCGAAGGTAACTACCGCGACCGCATACTGGCTTATTACCAGCAAACACTGAA > NC_000913_3_hsa_tpiA/1726040‑1726306 | aCATGATACTCGCGAACATCTCCTGGCGTCGGGCGAGCAACTTTGCCTGCAACTTGGATTCACCGGGATGGGGCTAAGCGAATTACTAAAAACCGCTGAAGTGCCGAAAGGGTCCTTCTATCACTGCTTTCGCTCTAAAGAAGCGTTTg < 1:314117/149‑1 (MQ=255)aCATGATACTCGCGAACATCTCCTGGCGACGGGCGAGCAACTTTGCCTGCAACGTGGATTCACCGGGATGGGGCTAAGCGAATTACTAAAAACCGCTGAAGTGCCGAAAGGGTCCTTCTATCACTACTTTCGCTCTAAAGAAGCGTTTg < 1:222720/149‑1 (MQ=255) gagcATCTGCTGGGGGCGGGCGTGCAACTTTGCTTGCAACGGTGATTCACCGGGATGGGGCTAAGCGAATTACTAAAAACCGCTGAAGTGGCGAAAGGGTCCTTCTATCACTGCTTTCGCTCTCAAGTCGCGGTTGGCGTTGCGATGCt < 2:372212/146‑1 (MQ=255) aaCATCTCCTGGCGACGGGCGAGCAACTTTGCCTGCAACGTGGATTCACCGGGATGGGGCTAAGCGAATTACTAAAAACCGCTGAAGTGCCGAAAGGGTCCTTCTATCACTACTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCtt < 1:330787/149‑1 (MQ=255) cTGGCGACGGGCGAGCAACTTTGCCTGCAACGTGGATTCACCGGGATGGGGCTAAGCGAATTACTAAAAACCGCTGAAGTGCCGAAAGGGTCATTCTAACACTACTTTCGATCTAAAGAAACGTTTGGCGTTGCCATGCTTGAgggagg > 2:517810/1‑144 (MQ=255) gCGACGGGCGAGCAACTTTGCCTGCAACGGGGATTCACCGGGATGGGGCTAAGCGAATTACTAAAAACCGCTGAAGTGCCGAAAGGGTCCTTCTATCACTGCTTTCGCTCTAAAGAAGCGCTTGGCGTTGCCATGCTTGACCGTCATTa < 2:13054/149‑1 (MQ=255) tttGCCTGCAACGTGGATTCACCGCGATGGGGCTAAGCCAATTACCAAAAACCGCTGAAGTGCCGAAAGGGTCCTTCTATCACTGCTTTCGCTCCAAAGAAGCGTTTGGCGTTGCAACGCTTAAGCGTCCTTACCCCCCACATCACCac > 2:89880/1‑148 (MQ=255) gttGCCTGGCACCTGGATTCAACGACAGGGGTCTAAGCGAATTACTAAAAACCGCTGAAGTGACGAAATGGTCCTTCTATCACTGCTTTCGCTCTAAAGAAACGTTTGGCGTTGCCATGCTTGAGCGTCATTACGCCTCATATCACCAg < 1:313744/148‑1 (MQ=255) cTGCAACGTGGATTCACCGGGATGGGGCTAAGCGAATTACTAAAAACCACTGAAGTGCCGAAAGGGTCCTTCCATCACTACTTTCGCTCTAAAGAAGAGTTTGGCGTTGCCATACATCAGCGTCATTACCCCGCATAACACCAGCgccc > 2:52155/1‑146 (MQ=255) cAACGTGGATTCACCGGGATGGGGCTAAGCGAATTACTAAAAACCGCTGAAGTGCCAAAAGGCCCCTAATATCACTACTTCCGCTCTAAAGAAGCGTTTGGCGTTGCCATCCTTTAGCGTCATTACGCCGCATATCCCCAGCgactgac > 2:270159/1‑149 (MQ=255) ggATTCACCGGGATGGGGCTAAGCGAATTACTAAAAACCGCTGAAGTGCCGAAAGGGTCCTTCTATCACTGCTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCTTGAGCGTCATTACGCCGCATATCACCAGCGACTGACTGAGtt < 1:554130/149‑1 (MQ=255) aTTCACCGGGATGGGGCTAAGCGAATTACTAAAAACCGCTGAAGTGCCGAAAGGGTCCTTCTATCACTACTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCTTGAGCGTCATTACGCCGCATATCACCAGCGACTGACTGAGTtgc > 2:95619/1‑149 (MQ=255) ttCACCGGGATGGGGCTAAGCGAATTACTAAAAGCCGCTGAAGTGTCGAAAGGGTCCTTCTATCACTACTTTCGCTCTAAAGAAGCGTTTGGCGTTGCTATGCTTGAGCGTCATTACGCCGCATATCACCAGCGACTGACTGAGTtgct < 2:449877/149‑1 (MQ=255) tCACCGGGATGGGGCTAAGCGAATTACTAAAAACCGCTGAAGTGCCGAAAGGGTCCTTCTATCACTACTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCTTGAGCGTCATTACGCCGCATATCACCAGCGACTGACTGAGTtgctg < 2:367432/149‑1 (MQ=255) aCCGGGATGGGGCTAAGCGAATTACTAAAAACCGCTGAAGTGCCGAAAGGGTCCTTCTATCACTGCTTTCGCTCTAAAGAAACGTTTGGCGTTGCCATGCTTCCGCGGCAGTTCGCCGCATATCACCAGCGACTGACTGAGTTGCTGCa > 1:122314/1‑149 (MQ=255) gATGGGGCTAAGCGAATTACTAAAAACCGCTGAAGTGCCGAAACCGCCCGGCCGTCAATGGTTACGCTCTAAAGAAGCGTTTGGCGTTGCCATGCTTGAGCGTCATTACGCCGCATATCACCAGCGACTGACTGAGTTGCTGCAATCCg > 1:485910/1‑149 (MQ=255) gtgtAAGCGAATTACTAAAATCCGCTGAAGTGCTGAAAGGGTTCTTCTATCACTACTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCTTGAGCGTCATTACGCCGCATATCACCAGCGACTGACTGAGTTGCTGCAATCCGGCGaa < 2:561178/146‑1 (MQ=255) ggCTAACCCAACTACTAAAAACCGCTGAAGTGCCGAAAGGGTCCTTCTATCACTGCTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCTTGAGCGTCATTACGCCGCATATCACCAGCGACTGACTGAGTTGCTGCAATCCGGCGaa < 1:543950/149‑1 (MQ=255) gCTAAGCGAATTACTAAAAACCGGTGAAGTCCTCAAATGGTCCTTCTATCACTGCTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCTTGAGCGTCATTACGCCGCATATCACCAGCGACTGACTGAGTTGCTGCAATCCGGCGAAg < 2:361569/149‑1 (MQ=255) caaaaaaCCGCGGAAGTGCCGAAAGGGTCCTTCTATCACTACTTTCGCTATAAAGAAGCGTTTGGCGTTGCCATGCTTGAGCGTCATTACGCCGCATATCACCAGCGACTGACTGAGTTGCTGCAATCCGGCGAAGGTAACTACCGCGa < 1:513854/147‑1 (MQ=255) gAAGTGCCGAAAGGGTCCTTCTATCACTACTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCTTGAGCGTCATTACGCCGCATATCACCAGCGACTGACTGAGTTGCTGCAATCCGGCGAAGGTAACTACCGCGACCGCATACTGGc < 1:95619/149‑1 (MQ=255) aaaGGGTCCTTCTATCACTACTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCTTGAGCGTCATTACGCCGCATATCACCAGCGACTGACTGAGTTGCTGCAATCCGGCGAAGGTAACTACCGCGACCGCATACTGGCTTATTACCa < 2:489029/149‑1 (MQ=255) tATCACTACTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCTTGAGCGTCATTACGCCGCATATCACCAGCGACTGACTGAGTTGCTGCAATCCGGCGAAGGTAACTACCGCGACCGCATACTGGCTTATTACCAGCAAACACTGaa < 1:15134/149‑1 (MQ=255) | ACATGATACTCGCGAACATCTCCTGGCGACGGGCGAGCAACTTTGCCTGCAACGTGGATTCACCGGGATGGGGCTAAGCGAATTACTAAAAACCGCTGAAGTGCCGAAAGGGTCCTTCTATCACTACTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCTTGAGCGTCATTACGCCGCATATCACCAGCGACTGACTGAGTTGCTGCAATCCGGCGAAGGTAACTACCGCGACCGCATACTGGCTTATTACCAGCAAACACTGAA > NC_000913_3_hsa_tpiA/1726040‑1726306 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 8 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 27 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |