Predicted mutation | |||||||
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evidence | seq id | position | mutation | freq | annotation | gene | description |
RA | NC_000913_3_hsa_pgi | 3,741,287 | C→T | 9.5% | C99Y (TGC→TAC) | ysaA ← | putative hydrogenase, 4Fe‑4S ferredoxin‑type component |
Read alignment evidence... | |||||||||||
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seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
* | NC_000913_3_hsa_pgi | 3,741,287 | 0 | C | T | 9.5% | 101.4 / 2.3 | 41 | C99Y (TGC→TAC) | ysaA | putative hydrogenase, 4Fe‑4S ferredoxin‑type component |
Reads supporting (aligned to +/- strand): ref base C (22/15); new base T (2/2); total (24/17) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 4.24e-01 |
TCGACATCCATGCACTGCAACGCCTTTGTCGGGCAGGCTTCAACACAGGCCGGTCCCGTCTCCCGATGCCAGCACAGATCGCACTTAATCGCCCTCGCCTTTTTGCGCGAAGAAACGACCTCCATCGCACCAAACGGGCAAGCCAGCATACAGCTTTTACAGCCAATGCAACGTGTTTGTTCAACGAAAATATGCCCATGTTCGCGGCTTATCGCGTCAACAGGGCAGACATTCGCGCACGGTGCATCTTCACACTGATGACAGGCTACTGCCGTG > NC_000913_3_hsa_pgi/3741149‑3741424 | tcGACATCCATGCACTGCAACGCCTTTGTCGGGCAGGCTTCAACACAGGCCGGTCCCGTCTCCCGATGCCAGCACAGATCGCACTTAATCGCCCTCGCCTTTTTGCGCGAAGAAACGACCTCCATCGCACCAAACGGGCAAGCCAGCAt > 1:528229/1‑149 (MQ=255) tcGACATCCATGCACTGCAACGCCTTTGACGGGCAGACTTCAACAGAGGCCGGTCCCGTCTCCAGATGCCAGCACAGATCGCACTTAATCGCCCTCGCCTTTTTGAGCGAAGAAACGCCCTCCATCGCACCAAACTGGCACGCCACCAt > 2:274592/1‑149 (MQ=255) cATGCACTGCAACGCCTTTGTCGGGCAGGCTTCAACACAGGCCGGTCCCGTCTCCCGATGCCAGCACGGATCGCACTTAATCGCCCTCGCCTTTTTGCGCGAAGAAACGACCTCCATCGCACCAAACGGGCAAGCCAGCATACAGCttt > 1:638608/1‑149 (MQ=255) aCTGCAACGCCTTTGTCGGGCAGGCTTCAACACAGGCCGGTCCCGTCTCCCGCTGCCAGCACAGATCGCACTTAATCGCCCTCGCCTTTTTGCGCGAAGAAACGACCTCCATCGCACCAAACGGGCAAGCCAGCATACAGCCTTTGCAg > 1:380824/1‑149 (MQ=255) aCGCCTTTGTCGGGCAGGCTTCAACACAGGCCGGTCCCGTCTCCCGATGCCAGCACAGATCGCACTTAATCGCCCTCGCCTTTTTGCGCGAAGAAACGACCTCCATCGCACCAAACGGGCAAGCCAGCATACAGCTTTTACAGCCAATg > 1:526426/1‑149 (MQ=255) cGCCTTTGTCGGGCAGGCTTCAACACAGGCCGGTCCCGTCTCCCGATGCCAGCACAGATCGCACTTAATCGCCCTCGTCTTTTTGCGCGAAGAAACGACCTCCATCGCACCAAACGGGCAAGCCAGCATACAGCTTTTACAGCCAATGc < 1:424818/149‑1 (MQ=255) gggCAGGCTTCAACACAGGCCGGTCCCGTCTCCCGATGCCAGCACAGATCGCACTTAATCGCCCTCGCCTTTTTGCGCGAAGAAACGACCTCCATCGCACCAAACGGGCAAGCCAGCATACAGCTTTTACAGCCAATGCAACGtgtttg > 1:564214/1‑149 (MQ=255) gggCAGGCTTCAACACAGGCCGGTCCCGTCTCCCGATGCCAGCACAGATCGCACTTAATCGCCCTCGCCTTTTTGCGCGAAGAAACGACCTCCATCGCACCAAACGGGCAAGCCAGCATACAGCTTTTACAACCAATGCACCGtgtttg > 1:247868/1‑149 (MQ=255) ggCTTCAACACAGGCCGGTCCCGTGTCCCGATGCCAGCACAGATCGCACTTAATCGCCCTCGCCTTTTTGCGCGAAGAAATGACCTCCATCGCACCAAACGGGCAAGCCAGCATACAGCTTTTACAGCCAATGCAACGTGTTTGTTCaa < 2:406422/149‑1 (MQ=255) ggCTTCAACACAGGCCGGTCCCGTCTCCCGATGCCAGCACAGATCGCACTTAATCGCCCTCGCCTTTTTGCGCGAAGAAACGACCTCCATCGCACCAAACGGGCAAGCCAGCATACAGCTTTTACAGCCAATGCAACGTGTTTGTTCaa > 2:539425/1‑149 (MQ=255) ggCTTAAACACAGGCCGGTCCCGTCTCCCGATGCCAGCACAGACCGCCCACATATTCCCTCGCCTTTTTGCGCGAAGAAACGACCTCCATCGCACCAAACGGGCAAGCCAGCATACAGCTTTTACAGCCAATGCAACGTGTTTGTTCaa < 1:186123/149‑1 (MQ=255) cAACACAGGCCGGTCCCGTCTCCCGATGCCAGCACAGATCGCACTTAATCGCCCTCGCCTTTTTGCGCGAAGAAACGACCTCCATCGCACCAAACGGGCAAGCCAGCATACAGCTTTTACAGCCAATGCAACGTGTTTGTTCAACGaaa < 1:435409/149‑1 (MQ=255) aGGCCGGTCCCGTCTCCCGATGCCAGCACAGATCGCACTTAATCGCCCTCGCCTTTTTTCTCTAATAAACGACCTCCATCGCACCAAACTGGCAACCCAGCATACAGCTTTTACAACCCATGCAACTTGTTTCTTCAACGACAATATGc > 2:291511/1‑149 (MQ=255) aGGCCGGTCCCGTCTCCCGATGCCAGCACAGATCGCACTTAATCGCCCTCGCCTTTTTGCGCGAAGAAACGACCTCCATCGCACCAAACGGGCAAGCCAGCATACAGCTTTTACAGCCAATGCAACGTGTTTGTTCAACGAAAATATGc < 1:504225/149‑1 (MQ=255) gTCCCGTCTCCCGATGCCAGCACAGATCGCACTTAATCGCCCTCGCCTTTTTGCGCGAAGAAACGACCTCCATCGCACCAAACGGACAAGCCAGCATACAGCTTTTACAGCCAATGCAACGTGTTTGTTCAACGAAAATATGCCCATGt > 1:593937/1‑149 (MQ=255) tCCCGTCTCCCGATGCCAGCACAGATCGCACTTAATCGCCCTCGCCTTTTTGCGCGAAGAAACGACCTCCATCGCACCAAACGGGCAAGCCAGCATACAGCTTTTACCGCCAATGCAACGTGTTTGTTCAACGAAAATATGCCCATGtt > 2:408134/1‑149 (MQ=255) ccGTCTCCCGATGCCAGCACAGATCGCACTTAATCGCCCTCGCCTTTTTGCGCGAAGAAACGACCTCCATCGCACCAAACGGGCAAGCCAGCATACAGCTTTTACAGCCAATGCAACGTGTTTGTTCAACGAAAATATGCCCATGTTca > 2:520656/1‑148 (MQ=255) gTCTCCCGATGCCAGCACAGATCGCACTTAATCGCCCTCGACTTTTTGCGCGGAGAAACGACCTCCATCGCACCAAACGGGCAAGCCAGCATACAGCTGTTACAGCGAATGCTACGTGTTTGTGAAACGAAAGTCTGCCCATGTTcgag > 1:16997/1‑147 (MQ=255) tcCCGATGCCAGCACAGATCGCACTTAATCGCCCTCGCCTTTTTGCGCGAAGAACCGAAATACAAGGCACCAACAGGATGCGCTAGCATACAGCTTTTACAGCCAACGCAACGTGTTTGTTCAACGAAAATATGCCCATGTTCGCGGCt > 1:490538/1‑149 (MQ=255) tcCCGATGCCAGCACAGATCGCACTTAATCGCCCTCGCCTTTTTGCGCGAAGAAACGACCTCCATCGCACCAAACGGGTAAGCCAGCATACAGCTTTTACAGCCAATGCAACGTGTTTGTTCAACGAAAATATGCCCATGTTCGCGGCt > 1:489879/1‑149 (MQ=255) cacaGATCGCACTTAATCGCCCTCGCCTTTTTGCGCGAAGAAACGACCTCCATCGCACCAAACGGGTAAGCCAGCATACAGCTTTTACAGCCAATGCAACGTGTTTGTTCAACGAAAATATGCCCATGTTCGCGGCTTATCGCGTCAAc < 2:490538/149‑1 (MQ=255) cacaGATCGCACTTAATCGCCCTCGCCTTTTTGCGCGAAGAAACGACCTCCATCGCACCAAACGGGTAAGCCAGCATACAGCTTTTACAGCCAATGCAACGTGTTTGTTCAACGAAAATATGCCCATGTTCGCGGCTTATCGCGTCAAc < 2:489879/149‑1 (MQ=255) aTCGCACTTAATCGCCCTCGCCTTTTTGCGCGAAGAAACGACCTCCATCGCACCAAACGGGCAAGCCAGCATACAGCTTTTACAGCCAATGCAACGTGTTTGTTCAACGAAACTATGCCCATGTTCGCGGCTTCTCGCGTCAACAGGGc > 2:598841/1‑149 (MQ=255) aTCGCACTTAATCGCCCTCGCCTTTTTGCGCGAAGAAACGACCTCCATCGCACCAAACGGGCAAGCCAGCATACAGCTTTTACAGCCAATGCAACGTGTTTGTTCAACGAAAATATGCCCATGTTCGCGGCTTATCGCGTCCACAGGGc > 1:579772/1‑149 (MQ=255) aTCGCACTTAATCGCCCTCGCCTTTTTGCGCGAAGAAACGACCTCCATCGCACCAAACGGGCAAGCCAGCATACAGCTTTTACAGCCAATGCAACGTGTTTGTTCAACGAAAATATGCCCATGTTCGCGGCTTATCACGTCAACAGGGc > 1:511170/1‑149 (MQ=255) tCGCACTTAATCGCCCTCGCCTTTTTGCGCGAAGAAACGACCTCCATCGCACCAAACGGGCAAGCCAGCATACAGCTTTTACAGCCAATGCAACGTGGTTGTTCAACGAAAATATGCCCATGTTCGCGGCTTATCGCGTCAACAGGGCa > 1:519160/1‑149 (MQ=255) ccTCGCCTTTTTGCGCGAAGAAACGACCTCCATCGCACCAAACGGGCAAGCCAGCATACAGCTTTTACAGCCAATGCAACGTGTTTGTTCAACGAAAATATGCCCATGTTCGCGGCTTATCGCGTCAACAGGGCAGACATTCGCGCACg < 2:506003/149‑1 (MQ=255) cGCCTTTTTGCGCGAAGAAACGACCCCCATCGCACCAAACGGGCAAGCCAGCATACAGCTTTTACAGCCAATGCAACGTGTTTGTTCAACGAAAATATGCCCATGTTCGCGGCTTATCGCGTCAACAGGGCAGACATTCGCGCACGGTg < 1:145039/149‑1 (MQ=255) gCCTTTTTGCGCGAAGAAACGACCTCTATCGCAAAAAACGGGCCAGCCAGTATACACCTTTTACAGCCTATGCCTCGTGTTTATTCAACGTAAATATGCCCATGTTAGCGGCTTATCGCCTCGACAGGACAGACCTTCGGGcgcgcgtc > 2:34853/1‑145 (MQ=255) tttttGCGCGAAGAAACGACCTCCATCGCACCAAACGGGCAAGCCAGCATACAGCTTTTACAGCCAATGCAACGTGTTTGTTCAACGAAAATATGCCCATGTTCGCGGCTTATCGCGTCAACAGGGCAGACa > 2:241398/1‑132 (MQ=255) tttttGCGCGAAGAAACGACCTCCATCGCACCAAACGGGCAAGCCAGCATACAGCTTTTACAGCCAATGCAACGTGTTTGTTCAACGAAAATATGCCCATGTTCGCGGCTTATCGCGTCAACAGGGCAGACa < 1:241398/132‑1 (MQ=255) tGCGCGAAGAAACGACCTCCATCGCACCAAACGGGCAAGCCAGCATACAGCTTTTACAGCCAATGCAACGTGTTTGTTCAACGAAAATATGCCCATGTTCGCGGCTTATCGCGTCAACAGGGCAGACATTCGCGCACGGTGCATCTTca < 1:361442/149‑1 (MQ=255) cgcgAAGAAACGACCTCCATCGCACCAAACGGGCAAGCCAGCATACAGCTTTTACAGCCAATGCAACGTGTTTGTTCAACGAAAATATGCCCATGTTCGCGGCTTATCGCGTCAACAGGGCAGACATTCGCGCACGGTGCATCTTcaca < 1:517983/149‑1 (MQ=255) gaagaaACGACCTCCATCGCACCAAACGGGCAAGCCAGCATACAGCTTTTACAGCCAATGCAACGTGTTTGTCCAACGAAAAAATGCCCATGTTCGCGGCTTATCACGACAACAAGACAGAACACCACGAACGGTGAATCttacaactg > 2:647861/1‑142 (MQ=255) aagaaACGACCTCCATCGCACCAAACGGGCAAGCCAGCATACAGCTTTTACAGCCAATGCAACGTGTTTGTTCAACGAAAATATGCCCATGTTCGCGGCTTATCGCGTCAACAGGGCAGACATTCGCGCACGGTGCATCTTCACACtga < 1:112179/149‑1 (MQ=255) actcccTCCATCGCACCAAACGGGCAAGCCAGCATACAGCTTTTACAGCCAATGCAACGTGTTTGTTCAACGAAAATATGCCCATGTTCGCGGCTTATCGCGTCAACAGGGCAGACATTCGCGCACGGTGCATCTTCACACTGATGACa < 2:638608/145‑1 (MQ=255) cttcATAGCACCAAACGGGCAAGCCAGCATACAGCTTTTACAGCCAATGCAACGTGTTTGTTCAACGAAAATATGCCCATGTTCGCGGCTTATCGCGTCAACAGGGCAGACATTCGCGCACGGTGCATCTTCACACTGATGACAGGCTa < 2:47637/146‑1 (MQ=255) cTCCATCGCACGAAACGGGCAAGCCAGCAGACAGCTTTGACAGCGAATGCGCCGGGTCTGTGCAAAGAAACTATGCCCATGTTCGCAGCTTATCTCGTCAACACGGCAGACATTCGCGCACGGTGCATCTTCAAACTGATGACATGCTa > 1:562680/1‑149 (MQ=255) cACCAAACGGGCAAGCCAGCATACAGCTTTTACAGCCAATGCAACGTGTTTGTTCAACGAAAATATGCCCATGTTCGCGGCTTATCGCGTCAACAGGGCAGACATTCGCGCACGGTGCATCTTTACACTGATGACAGGCTATTGCCGTg > 2:230782/1‑149 (MQ=255) cACCAAACGGGCAAGCCAGCATACAGCTTTTACAGCCAATGCAACGTGTTTGTTCAACGAAAATATGCCCATGTTCGCGGCTTATCGCGTCAACAGGGCAGACATTCGCGCACGGTGCATCTTCACACTGATGACAGGCTACTGCCGTg < 1:195740/149‑1 (MQ=255) cACCAAACGGGCAAGCCAGCATACAGCTTTTACAGCCAATGCAACGTGTTTGTTCAACGAAAATATGCCCATGTTCGCGGCTTATCGCGTCAACAGGGCAGACATTCGCGCACGGTGCATCTTCACACTGATGACAGGCTACTGCCGTg < 2:67295/149‑1 (MQ=255) | TCGACATCCATGCACTGCAACGCCTTTGTCGGGCAGGCTTCAACACAGGCCGGTCCCGTCTCCCGATGCCAGCACAGATCGCACTTAATCGCCCTCGCCTTTTTGCGCGAAGAAACGACCTCCATCGCACCAAACGGGCAAGCCAGCATACAGCTTTTACAGCCAATGCAACGTGTTTGTTCAACGAAAATATGCCCATGTTCGCGGCTTATCGCGTCAACAGGGCAGACATTCGCGCACGGTGCATCTTCACACTGATGACAGGCTACTGCCGTG > NC_000913_3_hsa_pgi/3741149‑3741424 |
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: ‑ |