| 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 | 90.3% | 88.9 / 4.4 | 31 | coding (40/1389 nt) | narU | nitrate/nitrite transporter |
| Reads supporting (aligned to +/- strand): ref base . (2/1); new base A (18/10); total (20/11) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 8.95e-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% | 92.2 / ‑6.7 | 31 | L13F (TTG→TTT) | narU | nitrate/nitrite transporter |
| Reads supporting (aligned to +/- strand): ref base C (1/0); new base A (19/11); total (20/11) | |||||||||||
| Rejected as polymorphism: E-value score below prediction cutoff. | |||||||||||
| Rejected as polymorphism: Frequency below/above cutoff threshold. | |||||||||||
| Rejected as polymorphism: Variant not supported by required number of reads on each strand. | |||||||||||
GAGATTAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGT‑CGCG‑C‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAGTGCT > NC_000913_3_hsa_tpiA/1543881‑1544162 ||| gagaTTAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCTCCGAAGGCCGGAGTTTCTGGTTTCCAGT‑CGCG‑A‑aaaaaga > 1:17410/1‑146 (MQ=255) tAACTGAGCTAACTAGCATCCAGCCACAGACGGCACGAAGTAGACAACTGACTGATATCCAGAGTTTTCTTCGAGCAATATGTTTCCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGT‑CGCGAA‑AAAAGATAACGACTAtt < 1:239972/149‑1 (MQ=255) aaTAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGT‑CGCGAA‑AAAAGATAACGACTATTTTTCTCAtttt > 1:261791/1‑149 (MQ=255) cggccAGACACAGCAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGTCCGGATTTTCTGGTTTCCAGT‑CGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGt < 2:544158/146‑1 (MQ=255) cacaGAAGGGAAGAAGTAGACAACTGACTGATAGCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGTATTTTCTGGTTTCCAGT‑CGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATAtt < 2:459745/149‑1 (MQ=255) acaGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGT‑CGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTg > 1:706718/1‑149 (MQ=255) ccagaagTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTCCCAGT‑CCCGAC‑AAAAGATAACGACTATTTTTCTCATTTTACCGTGCCATATTGTTCCTcac > 2:88729/3‑149 (MQ=255) aagTAGACAACTGACTGATATCCAGAGAATTCTTCGACAAACATGTATTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGT‑CGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCACTGCCATATTGTTCCTCACATGc > 2:487950/1‑149 (MQ=255) actgaTATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGT‑CGCGAA‑AAAAGATAACGACTATTTTTTTTATTTTTTAGTACAAGATTTGTCCTCACATACAATCATTCGTAAt > 2:662937/1‑149 (MQ=255) atatCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGT‑CGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCAACCATTGGTAATGaaa > 1:448164/1‑149 (MQ=255) ccAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGT‑CGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGaaaaaaa > 2:308784/1‑149 (MQ=255) cttcGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGT‑CGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAacac > 2:213247/1‑149 (MQ=255) ttcGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGT‑CGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCATTGCCATATTGTTCCTCACATGCACCCATTGGTAATGAAAAAAAAGCAAAACACg > 2:171443/1‑149 (MQ=255) gTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGT‑CGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCa > 1:212412/1‑149 (MQ=255) ttCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGT‑CGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATa < 1:140690/149‑1 (MQ=255) ttATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGT‑CGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAg < 1:51442/149‑1 (MQ=255) cAGAAGGCCGGATTTTCTGGTTTCCAGT‑CGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAGGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGaa > 1:298692/1‑149 (MQ=255) cAGAAGGCCGGATTTTCTGGTTTCCAGT‑CGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGaa > 1:365600/1‑149 (MQ=255) aGAAGGCCGGATTTTCTGGTTTCCAGT‑CGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTAACATGCGCACATTGGTAATGCGTAAAAGGCACAACCCGAGGTAAGGGGCAATACACAGTTATTAAAAt > 1:643632/1‑149 (MQ=255) ggaaggACTTTCTGGTTTTCAGTGCTGA‑A‑AAAAGATAACTACTATTTTTATCATTTTGCAGGGACATATTGTTCCTCACATGCACCCATGGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAg < 2:20509/145‑1 (MQ=255) ccGGATTTTCTGGTTTCCAGT‑CGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGa > 1:582136/1‑149 (MQ=255) cGGATTTTCTGGTTTCCAGT‑CGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGAt > 2:293130/1‑149 (MQ=255) ggATTTTCTGGTTTCAAGT‑CGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGAGAAAACAAGAGGTAAGGAGCAATAGCACGTTATTAGAATTAAGGATg > 2:186439/1‑149 (MQ=255) gATTTTCTGGTTTCCAGT‑CGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGa < 1:642917/149‑1 (MQ=255) ttgcTGGTTTCCAGC‑CGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAAtt < 1:234739/146‑1 (MQ=255) ttCTGTTTTGCAGT‑CGCGAA‑AAAAAAAAACGATTATTTTTCTTATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAAAACGAGGTAAGGCGCAATAGCCAGTACTTAGAATTAAGCATGAAtgg < 2:249148/149‑3 (MQ=255) ttCTGGTTTCCAGT‑CGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTg < 1:183096/149‑1 (MQ=255) cTGGTTTCCAGT‑CGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTggg > 1:341236/1‑149 (MQ=255) tGGTTTCCAGT‑CGCGAA‑AAAAGATAACGACTATTTGTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCCCAATAGCCAGTTATTCAAATTAAGGAGGAATTGGGt > 2:107717/1‑149 (MQ=255) ttCCAGT‑CGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAg < 1:340930/149‑1 (MQ=255) aGT‑CGCG‑AAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCCGTTATTAGAATTAAGGATGACTTGGCTGAAGTGCt > 2:333746/1‑149 (MQ=255) ||| GAGATTAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGT‑CGCG‑C‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAGTGCT > NC_000913_3_hsa_tpiA/1543881‑1544162 |
| Alignment Legend |
|---|
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: ‑ |