| Predicted mutation | ||||||
|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | annotation | gene | description |
| RA | NC_000913_3_hsa_tpiA | 1,544,022 | 1 bp→AA | coding (39/1389 nt) | narU ← | nitrate/nitrite transporter |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | NC_000913_3_hsa_tpiA | 1,544,021 | 1 | . | A | 82.0% | 104.5 / 16.6 | 39 | coding (40/1389 nt) | narU | nitrate/nitrite transporter |
| Reads supporting (aligned to +/- strand): ref base . (3/4); new base A (24/8); total (27/12) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 1.72e-01 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.00e+00 | |||||||||||
| * | NC_000913_3_hsa_tpiA | 1,544,022 | 0 | C | A | 97.4% | 114.9 / NA | 39 | L13F (TTG→TTT) | narU | nitrate/nitrite transporter |
| Reads supporting (aligned to +/- strand): ref base C (1/0); new base A (26/12); total (27/12) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.00e+00 | |||||||||||
AGATTAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCG‑C‑G‑C‑A‑AAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAGTGCTGATTGAAA > NC_000913_3_hsa_tpiA/1543882‑1544170 ||| agaTTAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCG‑C‑G‑A‑a‑aaaagat > 2:508351/1‑145 (MQ=255) tAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCG‑C‑GAA‑A‑AAAGATAACGACTAtt > 1:463370/1‑149 (MQ=255) tGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTAACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCG‑C‑GAA‑A‑AAAGATAACGACTATTTTtc > 1:531027/1‑149 (MQ=255) gcgcTACATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCG‑C‑GAA‑A‑AAAGATAACGACTATTTTtct < 1:117209/149‑1 (MQ=255) tAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCG‑C‑GAA‑A‑AAAGATAACGACTATTTTTCTCAtt > 1:355977/1‑149 (MQ=255) aTAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCG‑C‑GAA‑A‑AAAGATAACGACTATTTTTCTCATTTTg > 1:348068/1‑149 (MQ=255) cATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGCTTTTCTGGTTTCCAGTCG‑C‑GAA‑A‑AAAGATCACGACTATTTTTCTCATTTTGCAGt > 1:206702/1‑149 (MQ=255) ccAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATACAGAGATTTCTTCGAGAAATATGTTTGACTGTATTTTCCGTGAAGAGCGGATTTTCTGGTTTCCAGTCG‑C‑G‑CAA‑AAAGCTAACGACTTTTTTTATCATTTTGCAGTgac > 2:169452/1‑147 (MQ=255) cAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCG‑C‑G‑AAA‑AAAGATAACGACTATTTTTCTCATTTTGCAGTGCCa > 1:271507/1‑149 (MQ=255) acaGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCG‑C‑GAA‑A‑AAAGATCACGACTATTTTTCTCATTTTGCAGTTCCATATTg > 2:102020/1‑149 (MQ=255) aGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCG‑C‑GAA‑A‑AAAGATAACGACTATTTTTTTCATTTTGCAGTGCCATATTGtt > 1:449127/1‑149 (MQ=255) tgACAACTGACTGATATCCAGAGATTTCTTCGATCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCG‑C‑G‑AAA‑AAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGcacac < 1:25296/148‑1 (MQ=255) aaCTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCG‑C‑GAA‑A‑AAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTg < 1:449534/149‑1 (MQ=255) actgaTATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCG‑C‑GAA‑A‑AAAGATAACGACTATTTTTCTCATTTTGTATTGCCATATTGTTCCTCACATGCACACATTGATatt > 2:540472/1‑147 (MQ=255) actgaTATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCG‑C‑GAA‑A‑AAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATAAGTaac > 2:138250/1‑148 (MQ=255) tgaTATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCG‑C‑GAA‑A‑AAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGa > 1:402523/1‑149 (MQ=255) atatCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCG‑C‑GAA‑A‑AAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGt > 2:568724/1‑121 (MQ=255) atatCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCG‑C‑GAA‑A‑AAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGt < 1:568724/121‑1 (MQ=255) atatCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCG‑C‑GAA‑A‑AAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCCCACATTGGTAATGaaa > 1:253388/1‑149 (MQ=255) ccAGAGATTTTTTTGAGCAATATGTTTTCCTTTTTTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCG‑C‑GAA‑A‑AAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGaaaaaaa < 2:206702/149‑1 (MQ=255) ccAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCG‑C‑GAA‑A‑AAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGaaaaaaa < 1:454229/149‑1 (MQ=255) ccAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCG‑C‑GAA‑A‑AAAGATAACGACTATTTTTCGCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGaaaaaaa < 1:438989/149‑1 (MQ=255) cAATATGTTCTACTTTACTTTGCTAGAAGGCCTGAGTTCCTGGTTTCCAGACG‑CTA‑A‑A‑AAAGATAACAACTATTTTACTCATTTTGCAGTGCCATATTGTTTCTCACATGCACACATTAGTAATGAAAAAAAGTCAAATCACGAGGTaa < 2:33578/149‑1 (MQ=255) atatGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCG‑C‑GAA‑A‑AAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAgg > 2:135903/1‑149 (MQ=255) ttttCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCG‑C‑GAA‑A‑AAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGCAGAAAAGCCAAAACACGAGGTAAGGCGCaa > 1:355458/1‑149 (MQ=255) ttttCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCG‑C‑GAA‑A‑AAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGAGCaa > 1:587379/1‑149 (MQ=255) cTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCG‑C‑GAA‑A‑AAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGcacaca < 1:500847/104‑1 (MQ=255) cTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCG‑C‑GAA‑A‑AAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGcacaca > 2:500847/1‑104 (MQ=255) tttATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCATTCG‑C‑G‑A‑ATAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCa < 1:90418/149‑1 (MQ=255) aTTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCG‑C‑GAA‑A‑AAAGATAACGACTATTTTTCTCATTTTGCGGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGCCAAAACCCGAGGTAAGAGGCAATGGCAAGtt > 2:295546/1‑149 (MQ=255) cAGAAGGCAGGCATTTCTGGTTTCCAGTCG‑C‑GAA‑A‑AAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAGAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGaa > 2:9944/1‑149 (MQ=255) gAAGGCCGGATTTTCTGGTTTCCAGTCG‑C‑GAA‑A‑AAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAAtt > 2:145055/1‑149 (MQ=255) tcGGATTTTCTGGTGTCCGGGCGAT‑A‑A‑A‑AAAGATAACGACGATTTTTCGCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGa < 2:671162/148‑1 (MQ=255) ggATTTTCTGGTTTCCAGTCG‑C‑GAA‑A‑AAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAg < 2:433232/101‑1 (MQ=255) ggATTTTCTGGTTTCCAGTCG‑C‑GAA‑A‑AAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAg > 1:433232/1‑101 (MQ=255) gATTTTCTGGTTTCCAGTCG‑C‑GAA‑A‑AAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTACGGCGCAATAGCCCGTTCTTAGAATTAAGGacgg > 2:561562/1‑146 (MQ=255) gATTTTCTGGTTTCCAGTCG‑C‑GAA‑A‑AAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTCTTAGAATTAAGGATGa > 1:537619/1‑149 (MQ=255) tttCTGGTTTCCAGTCG‑C‑GAA‑A‑AAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAAtt > 1:378551/1‑149 (MQ=255) tGGTTTCCAGTCG‑C‑GAA‑A‑AAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACAAGAGGTAAGGCGCATTGGCCAGTTATTAGAATTAAGGATGAATTGGGt > 2:477236/1‑149 (MQ=255) cgcgaaa‑aaaGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCCCTCATTGGTAATGAAAAAAACTCAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTTAGGATGAATTGGGTGAAGGGCTGAt > 1:660580/7‑149 (MQ=255) cgaaa‑aaaGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGTGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAGTGCTGATTg < 1:138250/145‑1 (MQ=255) aa‑aaaGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACCCGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAGTGCTGATTGaaa < 1:584620/148‑1 (MQ=255) aa‑aaaGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAGTGCTGATTGaaa < 1:508351/148‑1 (MQ=255) ||| AGATTAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCG‑C‑G‑C‑A‑AAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAGTGCTGATTGAAA > NC_000913_3_hsa_tpiA/1543882‑1544170 |
| Alignment Legend |
|---|
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: ‑ |