| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | NC_000913_3_hsa_tpiA | 1,726,530 | G→C | 29.1% | A170P (GCG→CCG) | 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 | 1,726,530 | 0 | G | C | 29.1% | 31.1 / 11.1 | 24 | A170P (GCG→CCG) | nemR | transcriptional repressor for the nemRA‑gloA operon, quinone‑, glyoxal‑, and HOCl‑activated |
| Reads supporting (aligned to +/- strand): ref base G (10/7); new base C (5/2); total (15/9) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 6.69e-01 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 8.72e-01 | |||||||||||
TGGATAAAGGTGCTCGCGGCGTGATCGCCCTGCTCTCTCAGGCGCTGGAAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCGAACCGCTGCAACAGGCACAAGTGCTTTACGCACTGTGGCTTGGCGCGAATCTGCAGGCCAAAATTTCGCGCAGTTTCGAGCCACTGGAAAACGCGCTGGCCCATGTAAAAAACATTATTGCGACGCCTGCCGTTTAGCAGGCATTTTTTATCACCAGACGACCGGGAGCCTTTATGTCATCTGAAAAA > NC_000913_3_hsa_tpiA/1726399‑1726673 | tGGATAAAGGTGCTCGCGGCGTGATCGCCCTGCTCTCTCAGGCGCTGGAAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCGAACCGCTGCAACAGGCACAAGTGCTTTACGCACTGTGGCTTGGCCCGAATCTGCAGGCCaaa > 1:213188/1‑149 (MQ=255) cgcagcgcgatggataaaggtgctcgcggcgtgatcgccctgctTGGAAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCGAACCGCTGCAACAGGCACAAGTGCTTTACGCACTGTGGCTTGGCGCGAATCTGCAGGCCaaaa < 1:84395‑M2/105‑1 (MQ=255) aaGGTGCTCGCGGCGTGGTCGCCCTGCTCTCTCAGCTGCTGCAAAACGGCCGAGAGCAGGATTGTTTAACCTTTTGTGGCGAACCGCAGCAACCGGCGCAAGTCCTTTAATCACTTAGGATTGGCGCGAATCTGCAGGCCAACATTTcg > 2:436574/1‑149 (MQ=255) aaGGTGCTCGCGGCGTGATCGCCCTGCTCTCTCAGGCGCTGGAAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCGAACCGCTGCAACAGGCACAAGTGCTTTACGCACTGTGGCTTGGCGCGAATCTGCAGGCCAAAATTTcg > 1:255992/1‑149 (MQ=255) ggcggcaTCGCCCTGCTCTCTCAGGCGCTGGAAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCGAACCGCTGCAACAGGCACAAGTGCTTTACGCACTGTGGCTTGGCGCGAATCTGCAGGCCAAAATTTCGCGCAGTTTCGa < 1:2749/143‑1 (MQ=255) aaggtgttcgcggcgtgatcgccctgctTGGAAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCGAACCGCTGCAACAGGCACAAGTGCTTTACGCACTGTGGCTTGGCGCGAATCTGCAGGCCAAAATTTCGCGCAGTTTCGa < 1:143320‑M2/121‑1 (MQ=255) tcgcggcgtgatcgccctgctTGGAAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCGAACCGCTGCAACAGGCACAAGTGCTTTACGCACTGTGGCTTGGCGCGAATCTGCAGGCCAAAATTTCGCGCAGTTTCGAGCCACTg > 1:498757‑M2/22‑149 (MQ=255) ctctctCAGGCGCTGGAAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCGAACCGCTGCAACAGGCACAAGTGCTTTACGCACTGTGGCTTGGCGCAAATCTGCAGGCCAAAATTTTGCGCAGTTTCGAGCCACTGGAAAAcac > 2:62798/1‑147 (MQ=255) ggCGCTGGAAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCGAACCGCTGCAACAGGCACAAGTGCTTTACGCACTGTGGCTTGGCGCGAATCTGCAGGCCAAAATTTCGCGCAGTTTCGAGCCACTGGAAAACGCGCTGGccc < 1:270159/149‑1 (MQ=255) tGGAAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCGAACCGCTGCAACAGGCAGAAGTGCTTTACGCTCTGTGGCTTGGCGCGAATCTGCAGGCCAAAATTTCGCGCAGTTTCGAGCCACTGGAAAACGCGCTGGCCCATGTa > 2:437094/1‑149 (MQ=255) gAAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCGAACCGCTGCAACAGGCACAAGTGCTTTACGCACTGTGGCTTGGCGCGAATCTGCAGGCCAAAATTTCGCGCAGTTTCGAGCCACTGGAAAAGCCGCTGGCCCCTGTaaa > 2:197275/1‑149 (MQ=255) tGAGAACCATTGTTTAACCTTTTGTGGCGAACCGCTGCAACAGGCACAAGTGCTTTACGCACTGTGGCTTGGCGCGAATCTGCAGGCCAAAATTTCGCGCAGTTTCGAGCCACTGGAAAACGCGCTGGCCCATGTAAAAAACATTATTg < 1:218355/149‑1 (MQ=255) ccATTGTTTAACCTTTTGTGGCGAACCGCTGCACCAGGCACAAGTGCTTTACGCACTGTGGCTTGGCCCGAATATGCAAGCCAAAATTTCGCGCAGTTTCGTACCACTGGCAACCGCGCTGCGCCCTGTACAAAACCTTATTGcaccgc > 2:196083/1‑144 (MQ=255) ccATTGTTTAACCTTTTGTGGCGAACCGCTGCAACAGGCACAAGTGCTTTACGCACTGTGGCTTGGCCCCAATCTGCAGGCCAAAATTTCGCGCAGTTTCGAGCCACTGGAAAACGCGCTGGCCCATGGCACAAACAATATTGCGACGc > 2:195539/1‑149 (MQ=255) ttttGTGGCGAACCGCTGCAACAGGCACAAGTGCTTTACGCACTGTGGCTTAGCGCGACTCTGCAGGCCAAAATTTCGCGCAGTTTCGAGCCACTGGAAAACGCGCTGGCCCACGTAAAAAACATCATTCCGACGCCTCCCGTTTAACa > 2:166718/1‑149 (MQ=255) gAACCGCTGCAACAGGCACAAGTGCGTTAAGCACTGTGGCTTGGCCCGAATCTGCAGGCCAAAATTTCGCGCAGTTTCGAGCCACTGGAAAACGCGCTGGCCCATGTAAAAACCATTATTGCGACGCCTGCCGTTTAGATGACAttttt < 2:608442/149‑1 (MQ=255) gCAACAGGCACAAGTGCTTTACGCCCTGTGGCTTGGCGCGAATCTGCAGGCCAAAATTTCGCGCAGTTTCGAGCCACTGGAAAACGCGCTGGCCCATGTAAAAAACATTATTGCGACGCCTGCCGTTTAGCAGGCATTTTTTATCACCa < 2:219105/149‑1 (MQ=255) aaCAAGCACAGGTGCTTTACGAACTGTGGATTGACGCGAATCTGCAGGCCAAAATTTCGCGCAGTTTCGAGCCACTGGAAAACGCGCTGGCCCATGTAAAAAACATTATTGCGAGGCCTGCCGTGTAGCAGGCATTTTTTATCACCAga > 2:465808/1‑149 (MQ=255) aGGCACAAGTGCTTTACGCACTGTGGCTTGGCCCGAATCTGCAGGCCAAAATTTCGCGCAGTTTCGAGCCACTGGAAAACGCGCTGGCCCATGTAAAAAACATTATTGCGACGCGTGCCGTTTAGCAGGCATTTTTTATCACCAgacga > 2:529649/1‑149 (MQ=255) gCACAAGTGCTTTACGCACTGTGGCTTGGCGCGAATCTGCAGGCCAAAATTTCGCGCAGTTTCGAGCCACTGGAAAACGCGCTGGCCCATGTAAAAAACATTATTGGGACGCCTGCAGTTTACAAGGCATTTTTTATCACCGGACGccc > 2:484274/1‑149 (MQ=255) aaGTGCTTTACGCACTGTGGCTTGGCGCGAATCTGCAGGCCAAAATTTCGCGCAGTTTCGAGCCACTGGAAAACGCGCTGGCCCATGTAAAAAACCTTATTGCGACGCCTTCCGTTTAGCAGGCATTTTTTATCACCAGACGACCGGGa > 2:231097/1‑149 (MQ=255) tttggtgcGCAATGTGGCTTGGCGCGAATCTGCAGGCCAAAATTTCGCGCAGTTTCGAGCCACTGGAAAACGCGCTGGCCCATGTAAAAAACATTATTGCGACGCCTGCCGTTTAGCAGGCATTTTTTATCACCAGACGACCGGGAGcc < 2:162055/142‑1 (MQ=255) cTTTACGCACTGTGGCTTGGCCCGAATCTGCAGGCCAAAATTTCGCGCAGTTTCGAGCCACTGGAAAACGCGCTGGCCCATGTAAAAAACATTATTGCGACGCCTGCCGTTTAGCAGGCATTTTTTATCACCAGACGACCGGGAGccct > 2:265801/1‑147 (MQ=255) ttGGCCCGAATCGGAAGGCCAAAATATGGCGCAGTTTCGAGTCACTGGAAAGCGCGCTGGCCAATGTAAAAAACATTATTGCGACGCCTGCCGTTTAGCAGGCATTTTTTATCACCAGACGACCGGGAGCCTTTATGTCATCTGaaaaa < 2:283310/149‑1 (MQ=255) | TGGATAAAGGTGCTCGCGGCGTGATCGCCCTGCTCTCTCAGGCGCTGGAAAATGGCCGTGAGAACCATTGTTTAACCTTTTGTGGCGAACCGCTGCAACAGGCACAAGTGCTTTACGCACTGTGGCTTGGCGCGAATCTGCAGGCCAAAATTTCGCGCAGTTTCGAGCCACTGGAAAACGCGCTGGCCCATGTAAAAAACATTATTGCGACGCCTGCCGTTTAGCAGGCATTTTTTATCACCAGACGACCGGGAGCCTTTATGTCATCTGAAAAA > NC_000913_3_hsa_tpiA/1726399‑1726673 |
| 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: ‑ |