| 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 | 75.0% | 68.4 / 20.6 | 28 | coding (40/1389 nt) | narU | nitrate/nitrite transporter |
| Reads supporting (aligned to +/- strand): ref base . (1/6); new base A (13/8); total (14/14) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 7.68e-02 | |||||||||||
| 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 | 100.0% | 87.0 / NA | 28 | L13F (TTG→TTT) | narU | nitrate/nitrite transporter |
| Reads supporting (aligned to +/- strand): ref base C (0/0); new base A (14/14); total (14/14) | |||||||||||
TTATTGAGATTAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCG‑C‑AAAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAGTGCTGATTGAAAG > NC_000913_3_hsa_tpiA/1543876‑1544171 ||| ttATTGAGATTAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCG‑a‑aa > 1:749626/1‑149 (MQ=255) agaTTAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCTCG‑A‑aaaaagat < 1:513343/149‑5 (MQ=255) gcgcTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCG‑AAAAAA‑GATAACGACTATTTTtct < 2:776265/149‑1 (MQ=255) gcTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAA‑GATAACGACTATTTTTCTCa < 2:597683/149‑1 (MQ=255) aGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAA‑GATAACGACTATTTTTCTCATTTTGCa > 1:41461/1‑149 (MQ=255) cAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCG‑A‑AAAATGTTAACGACTATTTTTCTCATTTTGCAGTGCCa < 2:471234/149‑1 (MQ=255) gAAGGAAAGAAGTAGACAACTTACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTc < 2:597165/149‑1 (MQ=255) aagaagTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTcaca > 2:296203/1‑149 (MQ=255) ataagTAGGCAACTGACTGATATCCAGAGATTTCTTCGATCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCG‑AAAAAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACAt < 2:711712/147‑1 (MQ=255) aagTAGACAACTGACTGATATCCAGAGATCTCTTCGAGGAATATATTTTCGTTTCTTGTCCGAGAAGGCCCGAGGTTCTGGTTTCCAGTCGCGAA‑AAAA‑GATAGCGACTATTTTTCTCATTTTGCGGTGCCATATTGTTCCTCAGATGc > 1:705294/1‑149 (MQ=255) tgactgaGATCCAGGGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATAATGTTCCTCGCATGCACCCATTGTTa < 2:184221/149‑1 (MQ=255) ttctgaTATACAGAGATTTCTTCGAGCAATATGTTTTTTTTTATTTTGAGGGGGTACTACATGTTCTGGTTTACAGTCGCGAA‑AAAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTaa < 2:388129/147‑1 (MQ=255) gcctgaTATCCAGAGAGTTCTTTGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTaa < 2:9629/147‑1 (MQ=255) gactgaTATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCATCACATGCAAACATTGGTaa > 1:552351/1‑149 (MQ=255) tgaTATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAAtag > 1:388129/1‑147 (MQ=255) acAGAGATTGCTTCGAGCAATATGTTTTCATTTATTTTCCCAGAAGTCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGaaaaaaa < 1:298347/148‑1 (MQ=255) gaTTACTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACaa > 2:635066/1‑149 (MQ=255) ttcttcGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACAGATTGGTAATGAAAAAAAGACAAAac < 1:635066/149‑1 (MQ=255) aaTATTTGTTCCTTTATTTGCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCG‑AAAAAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAg < 1:261983/149‑1 (MQ=255) aaTATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAg < 1:83060/149‑1 (MQ=255) ttttCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCaa > 1:260364/1‑149 (MQ=255) ttttCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCaa > 1:570829/1‑149 (MQ=255) tttATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCa > 1:665890/1‑149 (MQ=255) tttATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAAGTAAGGAGCAAAAGcgc > 2:771923/1‑147 (MQ=255) ttATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAA‑GATAACGACTCTTTTTCTCATTTTGCAGTGCCATATTGTTCCTAACAACCAACCACTGGCAACGAAAAATAGACAAAACAAGAGTGAAGGCGCAATAGccgg > 2:713699/1‑147 (MQ=255) cGGATTTTCTGGTTTCCAGTCGCG‑AAAAAA‑GATAACGACTCTTTTTCTCATTTTGCCGTGCCCTATTGTTCCTCCCATGCACCCATTGGTAATGAAAAAAAGACAAAACACGAGGAAAGGCGCAATCGCCCGTTATTAGAATTAAGGaa > 2:753933/1‑148 (MQ=255) aTTTTCTGGTTTCCAGTCGCGAA‑AAAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAACACACGAGGTAACGCGCAATAGCCAGTTATTAGAATTAAGGATGaa > 2:790769/1‑149 (MQ=255) tCTGGTTTCCAGTCGCGAA‑AAAA‑GATAACGCCTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCCCACATTGGTAATGAAAAAAAGACAAAAGACGAGGTAAGGCGCAATAGCCAGTTGTTAGAATTAAGGGTGAATTgg > 1:224418/1‑149 (MQ=255) tGGTTTCCAGTCGCG‑AAAAAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGt < 2:260364/149‑1 (MQ=255) tcgagaaaaaa‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAGTGCTGa < 1:673322/142‑1 (MQ=255) tcgagaaaaaa‑GATAACGACTAGTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGTTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAGTGCTGa < 2:48987/142‑1 (MQ=255) aaaaaa‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAGTGCTGATTGaa > 1:84496/3‑149 (MQ=255) aaaaa‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAGTGCTGATTGaaa > 1:758257/2‑149 (MQ=255) aaaa‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAGTGCTGATTGAAAg > 1:577693/1‑149 (MQ=255) ||| TTATTGAGATTAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCG‑C‑AAAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAGTGCTGATTGAAAG > NC_000913_3_hsa_tpiA/1543876‑1544171 |
| 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: ‑ |