Predicted mutation | |||||||
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evidence | seq id | position | mutation | freq | annotation | gene | description |
RA | NC_000913_3_hsa_tpiA | 4,207,558 | A→G | 11.5% | intergenic (‑44/‑571) | purH ← / → rrsE | IMP cyclohydrolase and phosphoribosylaminoimidazolecarboxamide formyltransferase/16S ribosomal RNA of rrnE operon |
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 | 4,207,558 | 0 | A | G | 11.5% | 88.3 / 4.5 | 39 | intergenic (‑44/‑571) | purH/rrsE | IMP cyclohydrolase and phosphoribosylaminoimidazolecarboxamide formyltransferase/16S ribosomal RNA of rrnE operon |
Reads supporting (aligned to +/- strand): ref base A (18/14); new base G (2/2); total (22/17) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 3.68e-01 |
CTCCACACCGCGTGCGGAAAGTGCCTGGGCGAATTCGACGATACCGGCTTTGTCAGAAACACTGAGCAGAGCGCGGCGGACTGGACGACGTTGTTGCATGGTAAATCCCCTGGATTTGACTATTACAGAGAGCGTTAGCTGAATTTTTCGCGAAAAACTCAGCTAACGCCCCTAACGGGGCATCCTTATTTTTCGCCCGCATTGTAACGAAAACGTTTGCGCAACGCTCGCGAATTTTTCTCTTTCAATGGTGATCACAATTTTGACTGTGGTTACCGTGGGCAAAAT > NC_000913_3_hsa_tpiA/4207416‑4207703 | cTCGACGCCGCGGTCGGAAACGGACTGGGCTAATTCGGCGATACCGGCTTGGTAAGACACACTGAGCAGAGCGCGGCGGACTCGACCACGTCGTGGCATGGTAAATCCCCTACATTTGACTATTACAGAGAGCGCTAGCTGAATTTTTc < 2:354218/149‑1 (MQ=255) acacCGCGTGCGGAAAGTGCCTGGGCGAATTCGACGATACCGGCTTCGTCAGAAACACTGAGCAGAGCGCGGCGGACTGGACGACGTTGTTGCATGGTAAATCCCCCGGATTTGACTATTACAGAGAGCGTTAGCTGAATTTTTtgcgt > 2:320770/1‑148 (MQ=255) cacCGCGTACGGAAAGTGCCTGGGCGGATTCGACGATATCTGCGTTGTCAGAAACACTGAGCAGAGCGCGGCGGACTGGACGACGTTGTTGCATGGTAAATTCCCTGGATTTGACTAGTATAGTGTGCGTTTGCTGATTTTTTAGCGaa < 2:280572/149‑1 (MQ=255) tgaggAAACTGCCTGGGCGAATTCGACGATACCGGCTTTGTCAGAAACACTGAGCAGAGCGCGGCGGACTGGACGACGTTGTTGCATGGTAAACCCCCTGGATTTGACTATTACAGAGAGCGTTAGCTGAGTTTTTCGCGAAAAATTCa < 2:478492/146‑1 (MQ=255) tGCGGTAAGGGCCTGGGCGAAGTAGAAGATACCTGCTTTGTTAGAAATACTGAGCAGAGCGCGGCGGACTGGACGACGTTGTTGCATGGTAAATCCCCTGGATTTGACTATTACAGAGAGCGTTAGCTGAATTTTTCGCGAAAAACTCa < 2:352811/149‑1 (MQ=255) ccgAAAGTGCCTGGGCGAATTCGACGATACCGGCTTTGTCAGAAACACTGAGCAGAGCGCGGCGGACTGGACGACGTTGTTGCATGGTAAATCCCCTGGATTTGACTATTACAGAGAGCGTTAGCTGAGTTTTTCGCGAAAAATTCAGc < 1:393862/147‑1 (MQ=255) gTGCCTGGGCGAATTCGACGATACCGGCTTTGTCAGAAACACTGAGCAGATCGCGGCGGACTGGACGACGTTGTTGCATGGTAAATCCCCTGGATTTGACTATTACAGAGAGCGTTAGCTGAATTTTTCGCGAAAAACTCAGCTAACGc < 2:355184/149‑1 (MQ=255) cgtGGGAGAATTCTACGAGACCGGCTTTGTCAGAAACACTGAGCAGAGCGCGGCGGACTGGACGACGTTGTTGCATGGTAAATCCCCTGGATTTGACTATTACAGAGAGCGTTAGCTGAATTTTTCGCGAAAACCTCAGCTAACGcccc < 2:455946/147‑1 (MQ=255) cTGGGCGAATTCGACGATACCGGCTTTGTCAGAAACACTGAGCAGAGCGCGGCGGACTGGACGACGTTGTTGCATGGTAAATCCCCTGGATTTGACTATTACAGAGAGCGTTAGCTGAATTTTTCGCGAAAAACTCAGCTAACGCCCCt > 1:349708/1‑149 (MQ=255) gAATTCGACGATACCGGCTTTGTCGGAAGCACTGAGCAGAGCGCGGCGGACTGGACGACGTTGTTGCATGGTAAATCCCCTGGATTTGACTATGACAGAGAGCGTTAGCTGAATTTTTCGCGAAAAACTCAGCTAACGCCCCTAACggg < 2:254351/149‑1 (MQ=255) gAATTCGACGATACCGGCTTTGTCAGAAACACTGAGCAGAGCGCGGCGGACTGGACGACGTTGTTGCATGGTAAATCCCCTGGATTTGACTATTACAGAGAGCGTTAGCTGAATTTTTCGCGAAAAACTCAGCTAACGCCCCTAACggg < 1:179131/149‑1 (MQ=255) aagtctacgaTACCGGCTTTGTCAGAAACACTGAGCAGAGCGCGGCGGACTGGACGACGTTGTTGCATGGTAAATCCCCTGGATTTGACTATTACAGAGAGCGTTAGCTGAATTTTTCGCGAAAAACTCAGCTAACGCCCCTAACgcgg > 2:570437/7‑149 (MQ=255) tCAGACACACTGAGCAGAGCGCGGCGGACTGGTCGGCGTTGTTGCATGGTCAAGCCCCTGGGTTTGACTCTTACTGCGAGCGTTAGCTGATTTTTTCGCGAACAACTCAGCTAACGCCCCTATCTCGGCATCCTTCTTTTTCgtcgcct > 2:578739/1‑143 (MQ=255) tCAGAAACACTGAGCAGAGCGCGGCGGACTGGACGACGTTGTTGCATGGTAAATCCCCTGGCATTGGCTATTACAGAGAGCGTTAGCTGAATTTTTCGCGAGAAGCTGAGCTAACGCCCCTAACGGGGCCTCCGTATTTTTGGCCCGCa > 1:515192/1‑149 (MQ=255) tCAGAAACACTGAGCAGAGCGCGGCGGACTGGACGACGTTGTTGCATGGTAAATCCCCTGGATTTGACTATTACAGAGAGCGTTAGCTGAATTTTTCGCGAAAAACTCAGCTAACGCCCCTAACGGGGCACCCTCAATTTACGCCCCCa > 1:248255/1‑149 (MQ=255) tCAGAAACACTGAGCAGAGCGCGGCGGACTGGACGACGTTGTTGCATGGTAAATCACCTGGATTTGACTATTACAGAGAGCGTTAGCTGAATTTTTCGCGAAAAACTCAGCTAACGCCACTAACGGCGCATCCTTATTTTTCACCCGct > 2:13454/1‑148 (MQ=255) cTGAGCAGAGCGCGGCGGACTGGACGACGTTGTTGCATGGTAAATCCCCTGGATTTGACTATTACAGAGAGCGTTAGCTGAATTTTTCGCGAAAAACTCAGCTAACGCCCCTAACGGGGCATCCTTATTTTTCGCCCGCATTGTAACGa > 1:356138/1‑149 (MQ=255) ggggACTGACCGACGGTGTTGCATGTTAAATCCCCTTGCTTTGACTATTACAGAGAGCGTTAGCTGAATTTTTCGCCAAAAACTCAGCTAACGCCCCTAACCGGGCATCCTTATTTTTCGCCCGCATTTTAACGAAAACGTTTGCGCaa < 2:124003/147‑1 (MQ=255) tGGACGACGTTGTTGCGTGGTAAATCCCCTGGATTTGACTATTACAGAGAGCGTTAGCTGAATTTTTCGCGAAAAACTCAGCTAACGCCCCTAACGGGGCATCCTTATTTTTCGCCCGCATTGTAACGAAAACGTTTGCGCAACTCTcg > 2:335605/1‑149 (MQ=255) cgTTGTTGAATGGTAAATCCCCTGGATTTGACTATTACAGAGAGCGTTAGCTGAATTTTTCGCGAAAAACTCAGCTAACGCCCCTAACGGGGCATCCTTATTTTTCGCCCGCATTGTAACGAAAACGTTTGCGCAACGCTCGCGAAttt < 1:191523/149‑1 (MQ=255) ttgCATGGTAAATCCCCTGGATTTGACTATTACAGAGAGCGTTAGCTGAATTTTTCGCGAAAAACTCAGCTAACGCCCCTAACGGGGCATCCTTATTCTTCGCCCGCATTGTAACGAAAACGTTTGCGCAACGCTCGCGAATTTTtctc > 2:546440/1‑149 (MQ=255) aTGGTAAATCCCCTGGATTTGACTATTACAGAGAGCGTTAGCTGAATTTTTCGCGAAAAACTCAGCTAACGCCCCTAACGGGGCATCCTTATTTTTCGCCCGCATTGTAACGAAAACGTTTGCGCAACGCCCGCGAATTTTTCTCTTTc > 2:301716/1‑149 (MQ=255) tGGTAAATCCCCTGGATTTGACTATTACAGAGAGCGTTAGCTGAATTTTTCGCGAAAAACTCAGCTAACGCCCCTAACGGGGCATCCTTATTTTTCGCCCGCATTGTAACGAAAACGTTTGCGCAACGCTCGCGAATTTTTCTCTTTCa > 1:328086/1‑149 (MQ=255) aaTCCCCTGGATTTGACTATTACAGAGAGCGTTAGCTGAATTTTTCGCGAAAAACTCAGCTAACGCCCCTAACGGGGCATCCTTATTTTTCGCCCGCATTGTAACGAAAACGTTTGCGCAACGCTCGCGAATTTTTCTCTTTCAATGGt < 2:253657/149‑1 (MQ=255) aTCCCTTGGATTTGACTATTACAGAGAGCGTTAGCTGAATTTTTCGCGAAAAACTCAGCTAACGCCCCTAACGGGGCATCCTTATTTTTCGCCCGCATTGTAACGAAAACGTTTGCGCAACGCTCGCGAATTTTTCTCTTTCAATGGTg < 1:560351/149‑1 (MQ=255) aTCCCCTGGATTTGACTATTACAGAGATCGTTAGCTGACTTTTTCGCGAAAAACTCAGCTAACGCCCCTAGCGGGGCATCCTTATCTTTCGCCCGCATTGTAACGAAAACGTTTGCGCAACGCTCGCGAATTTTTCTCTTTCAATtgtg > 2:220209/1‑149 (MQ=255) cTGGATTTGACTATTACAGAGAACGTTAGCTGAATTTTTCGCGCAATACTCAGCTAACGCCCCTAACTGGGGGTCCTTATTTTTCGCCCGCATTGTAACAAAAACGTTTGCGCAACACTGGCGAATTTTTCTCTTTCAATGGTGGTcac > 2:497622/1‑149 (MQ=255) tATTACAGAGAGCGTTAGCTGAATTTTTCGCGAAAAACTCAGCTAACGCCCCTAACGGGGCATCCTTATTTTTCGCCCGCATTGTAACGAAAACGTTTGCGCAACGCTCGCGAATTTTTCTCTTTCAATGGTGATCACAATTTTGACtg > 1:25164/1‑149 (MQ=255) aTTACAGAGCGCGTTAGCTGAATTTTTCGCGAAAAACTCAGCTAACGCCCCTAACGGGGCATCCTTATTTTTCGCCCGCATTGTCACGAAAACGTTCGCGCAACGCTCGCGAATTTTTCTCTTTCAATGGTGATCACAATTTTGACtgt < 2:465922/149‑1 (MQ=255) ttACAGAGAGCGTTAGCTGAATTTTTCGCGAAAAACTCAGCTAACGCCCCTAACGGGGCATCCTTATTTTTCGCCCGCATTGTAACGAAAACGTTTGCGCAACGCTCGCGCATTTTTCTCTTTCAATGGTGATAACAATTTTGACtgtg > 1:169848/1‑149 (MQ=255) gagagCGTTAGCTGAATTTTTCGCGAAAAACTCAGCTAACGCCCCTAACGGGTCATCCTTATTTTTCGCCCGCATTGTAACGAAAAAGTTTGCGCAACGCTCGCTACTTTTTCTCTTTCAATGGTGCTCCCACTTTTCCCTGTGCTTAc > 2:149837/1‑149 (MQ=255) gggCGTTAGCTGAAATAATAGCAAAAAACTCAGCTAACGCCCCTAACGGGGCATCCTTATTTTTCGCCCGCATTGTAACGAAAACGTTTGCGCAACGCTCGCGAATTTTTCTCTTTCAATGGTGATCACAATTTTGACTGTGGTTACCg < 2:296937/147‑1 (MQ=255) gCGTTAGCTGAATTTTTCGCGAAAAACTCAGCTAACGCCCCTAACGGGGCATCCTTATTTTTCGCCCGCATTGTAACGAAAACGTTTGCGCAACGCTCGCGAATTTTTCTCTTTCAATGGTGATCACAATTTTGACTGTGGTTACCGTg < 1:356880/149‑1 (MQ=255) cGTTAGCTGAATTTTTCGCGAAAAACTCAGCTAACGCCCCTAACGGGGCATCCTTATTTTTCGCCCGCATTGTAACGAAAACGTTTGCGCAACGCTCGCGAATTTTTCTCTTTCAATGGTGATCACAATTTTGACTGTGGTTACCGTgg < 1:40615/149‑1 (MQ=255) gTTAGCTGAATTTTTCGCGAAAAACTCAGCTAACGCCCCTAACGGGACATCCTTATTTTTCGCCCGGATTGTAACGAAAACGTTAGCGCAACGCTCGCGAATTTTTCTCTTTCAATGGTGATCTCAATTTTGACTGTGGTTACCGTggg > 1:556623/1‑149 (MQ=255) gTTAGCTGAATTTTTCGCGAAAAACTCAGCTAACGCCCATAACGGGGCATCCTTATTTTTCGCCCGCATTGTAACGAAAACGTTTGCGCAACGCTCGCGAATTTTTCTCTTTCAATGGTGCTCACAATTTGCACTGTGGGTACGGTggg > 2:217036/1‑149 (MQ=255) tAGCTGAGTTTTTCGCGAAAAATTCAGCTAACGCCCCTAACGGGGCATCCTTATTTTTCGCCCGCATTGTAACGAAAACGTTTGCGCAACGCTCGCGAATTTTTCTCTTTCAATCGTGATCACAATTTTAACTGTGGTTACCGTGGGCa > 2:512373/1‑149 (MQ=255) tGAGTTTTTCGCGAAAAATTCAGCTAACGCCCCTAACGGGGAATCCTTATTTTTCGCCCGCATTGTAACGAAAACGTTTGCGAAACGCTCGCGAATTTTTCTCTTTCAATGGTGATAACAATTTTGACTGTGATTACAATGGGAAAAAt > 1:66269/1‑149 (MQ=255) tGAATTTTTCGCGAAAAACTCAGCTAACGCCCCTAACGGGGCATCCTTATTTTTCGCCCGCATTGTAACGAAAACGTTTGCGCAACGCTCGCGAATTTTTCTCTTTCAATGGTGATCACAATTTTGCCTGTGGTTACCGTGGGCAAAAt > 1:95925/1‑149 (MQ=255) | CTCCACACCGCGTGCGGAAAGTGCCTGGGCGAATTCGACGATACCGGCTTTGTCAGAAACACTGAGCAGAGCGCGGCGGACTGGACGACGTTGTTGCATGGTAAATCCCCTGGATTTGACTATTACAGAGAGCGTTAGCTGAATTTTTCGCGAAAAACTCAGCTAACGCCCCTAACGGGGCATCCTTATTTTTCGCCCGCATTGTAACGAAAACGTTTGCGCAACGCTCGCGAATTTTTCTCTTTCAATGGTGATCACAATTTTGACTGTGGTTACCGTGGGCAAAAT > NC_000913_3_hsa_tpiA/4207416‑4207703 |
Alignment Legend |
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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: ‑ |