Predicted mutation | |||||||
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evidence | seq id | position | mutation | freq | annotation | gene | description |
RA | NC_000913_3_hsa_tpiA | 1,544,021:1 | +A | 76.3% | coding (40/1389 nt) | narU ← | nitrate/nitrite transporter |
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 | 1,544,021 | 1 | . | A | 76.3% | 89.0 / 25.8 | 38 | coding (40/1389 nt) | narU | nitrate/nitrite transporter |
Reads supporting (aligned to +/- strand): ref base . (4/5); new base A (12/17); total (16/22) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.84e-01 |
TTTTATTGAGATTAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑G‑C‑AAA‑AGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAGTGC > NC_000913_3_hsa_tpiA/1543874‑1544161 | ttttATTGAGATTAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTGTTTGTGCCATGGGTGTTCCGTTATTTTACAAGAAGGCCGGATTTTCTGGTTTCCAGTcgc‑ga > 1:24601/1‑148 (MQ=255) tGAGATTAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAATGCCGGATTTTCTGGTTTCCAGTCGC‑G‑A‑aaa‑aag > 2:516712/1‑147 (MQ=255) agaTTAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑G‑A‑aaa‑aagat > 1:421087/1‑145 (MQ=255) cTGCGATAAATAGAGACCAGACACAGAAGGCAAGAATTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTGTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑AAA‑AGATAACGACTAttttt < 2:571844/149‑1 (MQ=255) gcTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑AAA‑AGATAAAGACTATTTTTCTCa > 1:349939/1‑149 (MQ=255) aTCCAAACACAGACGCCAGGAAGGAGACAATTGACTGATTTCCAGAGATGTCTTCGGGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGTTTTTCTGGTTTCCCGTCGC‑GAA‑AAA‑AGATAACGACTATTTTTCTCATTTTGCAGTg < 2:440279/149‑1 (MQ=255) gAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑AAA‑AGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTc > 1:77483/1‑149 (MQ=255) agctaagaaaTAGACAACCGACTGATATCCAGAAATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGACGA‑GAA‑AAA‑AGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCt < 2:589918/145‑1 (MQ=255) ggCAAGAAGTAGACAACTGACTGATCTCCAGAGATGTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑AAA‑AGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTc < 2:445752/149‑1 (MQ=255) gACAAATGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑G‑AAAAA‑AGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGcacaca < 1:8461/149‑1 (MQ=255) aaCTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑AAA‑AGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTg < 1:186620/149‑1 (MQ=255) tgactgaTATCCAGCGATTTCTTCGCGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGTTTTCCACTTGC‑GAA‑AAA‑AGATAACGCCTATTTTTCTCATTTTGCAGTGCCCTATTGTTCGTCCCATGCACAAAttcgga > 2:278722/1‑145 (MQ=255) tgactgaTATCCAGACATTTCATCGAGCCATATCGTTTCCTTTATTTTCCCACAAGGCCGGATTTTCTGGTTGCGAGTGGC‑G‑A‑AAACAGATTACGACTATTTTTCTCATTTTCCAGTGCCATATTATTCCTCCCATACGAACATTGGTa > 2:484572/1‑149 (MQ=255) gacttaTATTCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATGTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑AAA‑AGATAACGACTATTTTTCTCATTTTGCACTGCCATATTGTTCCTCACATGCACACATTGTTaa < 2:57216/149‑1 (MQ=255) gactgaTATCCAGAGATTTCTTCGAGAAATATGTTTTCCTTTATTTTCCCACAAGGCCGGATTTTCTGGTTTCCAGTCGC‑G‑AAAAA‑AGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTaa < 2:57141/149‑1 (MQ=255) cAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑AAA‑AGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGaacaaaaa > 2:356178/1‑148 (MQ=255) cAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑AAA‑AGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAg > 1:465174/1‑149 (MQ=255) ttttctcGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTGCCAGTGGC‑GAA‑AAA‑AGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTACTCACATGCACACATTGGTAATGAAAAAAAGACaaaa < 1:409642/144‑1 (MQ=255) gtccatcGAGCAATATGTGTCCCTTTATATTCAAAGAAGGCCGGATTTTTTGATTAAAAAAAGA‑AAA‑AAA‑AGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACaaaa < 2:41158/144‑1 (MQ=255) ttcGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑AAA‑AGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTTTTCCTCACATTCAACCATTCGTAATGAAAAAAATACAAAacaca > 2:341253/1‑148 (MQ=255) ttcGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑AAA‑AGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACg > 1:784319/1‑149 (MQ=255) tcGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑AAA‑AGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGa < 1:255210/149‑1 (MQ=255) tcGAGCAATATGTTCTGCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTACAGTCGC‑GAA‑AAA‑AGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGAAAAAACACGa < 2:481733/149‑1 (MQ=255) tatGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑AAA‑AGATAACGAATATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGgc < 2:1516/149‑1 (MQ=255) tttATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑AAA‑AGATAACGGCTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCCATAGCCa > 1:101319/1‑149 (MQ=255) ttATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑G‑AAAAA‑AGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAg < 1:284861/149‑1 (MQ=255) tATTTTCCCAGAAGGACGGATTTTCTGGTTTCCGGTCGCGG‑A‑AAA‑AGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGt < 1:228551/149‑1 (MQ=255) tCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑AAA‑AGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGttatta < 1:307105/149‑1 (MQ=255) tCCCAGAAGGCCGGATTTGTTGGTTTCCAGTCGC‑GAA‑AAA‑AGAGAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGttatta < 2:743245/149‑1 (MQ=255) cgccAGAAGGCCGGAGTTTTTGGTTTCCAGTAGC‑GAA‑AAA‑AGATAACGACTATTTTTCTCAGTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAACCACGAGGTAAGGCGCAATAGCCAGttatta < 2:326817/147‑1 (MQ=255) cAGACGGCCGCATGTTCTGGTTGCCAGGCGC‑GAA‑AAA‑AGATAACGACTATTTTTCGCATTTTTCAGTGCCATATTGTTCCTCCCATGCACACATTGGTAACGAAAAAAATACAAAACACGAGGTAAGGCGCAATAGCCAGTCATTAGaa < 2:323441/149‑1 (MQ=255) cAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑AAA‑AGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGAAATACCCCATTATTAGaa > 2:700124/1‑149 (MQ=255) cAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑AAA‑AGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCAAACATTGGTAATGAAAAGAAGACAAAACACGAGGTAAGGCGCAATAGCGGGTTATTAGag > 1:73750/1‑148 (MQ=255) aGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑AAA‑AGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATCAAAAAAAGCCAAACCAAGAGGTAAGGCGCAATAGCCAGTTATTCGAAt > 2:766304/1‑149 (MQ=255) gCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑AAA‑AGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGTACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAgg > 2:770120/1‑149 (MQ=255) cGGATTTTCTGGTTTCCAGTCGC‑GAA‑AAA‑AGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGAt < 1:774178/149‑1 (MQ=255) tCTGGTTTCCAGTCGC‑GAA‑AAA‑AGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTgg < 2:533905/149‑1 (MQ=255) tCTGGTTTCCAGTCGC‑G‑AAAAA‑AGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTgg < 1:318108/149‑1 (MQ=255) cAGTCGC‑G‑AAAAA‑AGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACAGGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGGTATTAGAATTAAGGATGAATTGGGTGACGTGc > 1:297976/1‑149 (MQ=255) | TTTTATTGAGATTAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑G‑C‑AAA‑AGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAGTGC > NC_000913_3_hsa_tpiA/1543874‑1544161 |
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 < 27 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |