| 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 | 78.8% | 85.4 / 19.8 | 33 | coding (40/1389 nt) | narU | nitrate/nitrite transporter |
| Reads supporting (aligned to +/- strand): ref base . (5/2); new base A (16/10); total (21/12) | |||||||||||
| 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 | |||||||||||
| * | NC_000913_3_hsa_tpiA | 1,544,022 | 0 | C | A | 100.0% | 101.4 / NA | 33 | L13F (TTG→TTT) | narU | nitrate/nitrite transporter |
| Reads supporting (aligned to +/- strand): ref base C (0/0); new base A (21/12); total (21/12) | |||||||||||
TGAGATTAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCG‑C‑A‑AAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAGTGCTGATTGAA > NC_000913_3_hsa_tpiA/1543880‑1544169 ||| tGAGATTAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCG‑A‑a‑aaaag < 1:353298/149‑3 (MQ=255)tGAGATTAACGGTAACTGCGCTAAATAGCATCCAGAAACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCG‑A‑a‑aaaag < 1:302723/149‑3 (MQ=255) aTTAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCG‑A‑a‑aaaagagaa > 1:511625/1‑143 (MQ=255) ttAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGCAGGCCGGATTTTCTGGTTTCCAGTCGCG‑A‑A‑AAATGATAAc > 1:322963/1‑149 (MQ=255) tAACTGCGCTAAATAGCATACAGACACACAAGGCAAGAAGTAGACACCTGACTAATATCCAGAGATTTCTGCGGGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑A‑AAA‑GATAACGACTAtt > 2:165826/1‑149 (MQ=255) tGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑A‑AAA‑GATAACGACTATTTTtc > 2:417257/1‑149 (MQ=255) gcTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCATTCGCGAA‑A‑AAA‑GATCACGACTATTTTtctcg > 2:397145/1‑148 (MQ=255) gcTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑A‑AAA‑GATAACGACTATTTTTCTCa > 2:684096/1‑149 (MQ=255) cTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑A‑AAA‑GATAACGACTATTTTTCTCAt < 2:374388/149‑1 (MQ=255) tAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCAGGCGAGTGGGATTTTCTGGTTTCCAGTCGCGAA‑A‑AAA‑GATAACGACTATTTTTCTCAtt > 1:401811/1‑149 (MQ=255) cATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑A‑AAA‑GATAACGACTATTTTTCTCATTTTGCAGt > 1:777851/1‑149 (MQ=255) aGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑A‑AAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCat > 2:536746/1‑149 (MQ=255) cagcagGCAAGAAGTAGAGATCTGACTTATAGCCAGAGACTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCTAGTCGCGAA‑A‑AAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGt < 1:288796/149‑1 (MQ=255) caGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑A‑AAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGt < 1:417257/149‑1 (MQ=255) aGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑A‑AAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGtt > 2:154213/1‑149 (MQ=255) gAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTTTTTTCCCAGAAGGCCGGATTTTCTTGTTTCCAGTCGCGAA‑A‑AAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTc < 1:737982/149‑1 (MQ=255) cAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑A‑AAA‑GATAACGACTATTTTTTTTTTTTTTTTGTGCCATATTGTTCCTcac > 2:502011/1‑149 (MQ=255) aagaagTAGACAACTGACTGATATCCAGAGATTTCTTCGCGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCG‑A‑ACAAA‑AATAACGACTATTTTTCTCATTTTGCCTTGCCCTATTGTGCCCcaca > 2:13435/1‑149 (MQ=255) aagaagTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑A‑AAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTcaca > 1:514089/1‑149 (MQ=255) aaCTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑A‑AAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTg > 2:497359/1‑149 (MQ=255) actgaTATCGAGAGAGTTCTTCGAGCAATTTGTTTTCCTTTATTTTCCCAGATGGCCGGATTTTCTGGTTAACAGAAAAGAA‑A‑AAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAAt < 2:511625/149‑1 (MQ=255) actgaTATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑A‑AAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAAt > 1:135405/1‑149 (MQ=255) ccAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑A‑AAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGaaaaaaa < 1:502011/149‑1 (MQ=255) agagATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑A‑AAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGa < 1:684096/149‑1 (MQ=255) agagATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCG‑AAA‑AAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGa > 2:8072/1‑149 (MQ=255) gagaTTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑A‑AAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGaaaaaagaca > 2:393922/1‑145 (MQ=255) tcGACCAATATGGGTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑A‑AAA‑GATAACGACGATTTTTCTCATTTTGCAGTGCCATATTGTTCCGCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGa < 2:321795/149‑1 (MQ=255) tttATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑A‑AAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGaaaa < 1:570838/116‑1 (MQ=255) tttATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑A‑AAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGaaaa > 2:570838/1‑116 (MQ=255) ttATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCG‑AAA‑AAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACCTTGGTAATGCAAAAAAGACACAACACAAGGTAAAGTGCAATAGCCAg > 2:666101/1‑149 (MQ=255) tCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑A‑AAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGttatta < 1:497359/149‑1 (MQ=255) ggATTTTCTGGTTTCCAGTCGCGAA‑A‑AAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTATGACGAATTAGCAAGTTATTCGAATTTAGGGTg > 1:383407/1‑149 (MQ=255) aTTTTCTGGTTTCCAGTCGCGAA‑A‑AAA‑GATAACGACTATTTTTTTTTTTTTTCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAAACAAAACACGAGTTAAGGCGCAATATCCAGTTTTTAGAATTAAGGATGaa > 2:267884/1‑149 (MQ=255) tcgcgaaa‑aaa‑GATAACGACTATTTTTCTTATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAGTGCTGa < 1:154213/142‑1 (MQ=255) aaa‑aaa‑aaaaACGACTATATGTCTAATTTTACATAGCCATATTGTTCAACACATGCACACATTAAAAAAGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAGTGCTGATTGaa < 2:489895/147‑1 (MQ=255) ||| TGAGATTAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCG‑C‑A‑AAA‑GATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAGTGCTGATTGAA > NC_000913_3_hsa_tpiA/1543880‑1544169 |
| 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: ‑ |