| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | NC_000913_3_hsa_tpiA | 1,544,022 | 1 bp→AA | 100% | 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 | 81.0% | 52.6 / 8.7 | 21 | coding (40/1389 nt) | narU | nitrate/nitrite transporter |
| Reads supporting (aligned to +/- strand): ref base . (3/1); new base A (9/8); total (12/9) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 6.03e-01 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.34e-01 | |||||||||||
| Rejected as polymorphism: Variant not supported by required number of reads on each strand. | |||||||||||
| * | NC_000913_3_hsa_tpiA | 1,544,022 | 0 | C | A | 100.0% | 61.0 / NA | 21 | L13F (TTG→TTT) | narU | nitrate/nitrite transporter |
| Reads supporting (aligned to +/- strand): ref base C (0/0); new base A (12/9); total (12/9) | |||||||||||
| Rejected as polymorphism: Frequency below/above cutoff threshold. | |||||||||||
| Rejected as polymorphism: Variant not supported by required number of reads on each strand. | |||||||||||
AACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑G‑C‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGT > NC_000913_3_hsa_tpiA/1543887‑1544154 ||| agcGGGAACTGGGCGAAATAGAATGCAGACACAGAAGGCAAGAAGTAGACAACTGAGTGAGATCCAGAGATTTCTTCGAGCAACATGTTTTTCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTGCAGTCGC‑G‑AAAAAAGATAACGa < 2:393739/147‑1 (MQ=255) tAGCATCCAGACACAGAAGCCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGGAAAATATGTTTTCCTTTATTTTCCCAGAATGCCAGATTTTCTAGTTTCCAGTCGCAA‑A‑AAAAAATAACGACTATTTTTCTCCTTTTGc > 2:556382/1‑149 (MQ=255) cATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTACAGTCGC‑GAA‑AAAAGATAACAACTATTTTTCTCATTTTTCAGt > 1:374280/1‑149 (MQ=255) aagTAGACAACTGACTGATATCCAGGGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTAACATGc > 1:599145/1‑149 (MQ=255) gACAACTGACTGATATCCAGAGATTTCTTCGAGCAATAGGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑AAAAGATAACGACTATTTTTCTCCTTTTGCAGTGCCGTGTTTTTCGTCACATGcacaca > 1:211001/1‑149 (MQ=255) aaCTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCNAAANTGTTCCTCACATGCACACATTg > 1:529799/1‑149 (MQ=255) ccAGAGATTTCTTCGAGCAATATGTTTTCCTTTCTTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGaaaaaaa < 1:294611/149‑1 (MQ=255) ccAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑AAAAGATAACGACTATTTTTCTCAATTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGaaaaaaa < 1:258753/149‑1 (MQ=255) cttcGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑G‑AAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAacac > 2:400196/1‑149 (MQ=255) aGCAATATGTTTTCCTTTATTTTCCGAGAAGGCCGGATTTTCTAAAAAAAAAAAAA‑AAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTACCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGt < 1:594911/149‑1 (MQ=255) aaTATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑G‑AAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAATACAAACAACGAGGTAAg > 2:171476/1‑149 (MQ=255) tCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAg > 1:243908/1‑149 (MQ=255) tttATTTCCCCAGAAGGCCGGTTTTTCTGGTTTCCAGTCGC‑GAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCa < 1:353999/149‑1 (MQ=255) cccAGAAGGCCGGATTTTCTGGTTTCGAGTCGC‑GAA‑AAAAGATAACGACTGTTTTTCTCATTTTGCGGTGCCATATTGTTCCTCACATGCACACATTGGTAAAGAAAAAAGGACAAAACACGGGGGAAGACGACATAGCTAGTTATTAg > 1:211539/1‑149 (MQ=255) gCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACaaaa < 1:517277/110‑1 (MQ=255) gCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACaaaa > 2:517277/1‑110 (MQ=255) ggATTTTCTGGTTTCCAGTCGC‑GAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATg > 1:581249/1‑149 (MQ=255) tctcGTTTCCAGGCGC‑GAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTgg < 1:329838/149‑1 (MQ=255) cTGGTTTCAAGTAGC‑GAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTggg < 2:330653/149‑1 (MQ=255) tGGTTTCCAGTCGC‑GAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACATATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGt < 1:572314/149‑1 (MQ=255) tGGTTTCCAGTCGC‑GAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACAAGAGGTAAGACGCAATAGCCAGTTATTAGAATGAAGGAGGAATTGGGt > 1:583879/1‑149 (MQ=255) ||| AACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑G‑C‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGT > NC_000913_3_hsa_tpiA/1543887‑1544154 |
| 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: ‑ |