| 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 | 88.2% | 41.8 / 1.0 | 17 | coding (40/1389 nt) | narU | nitrate/nitrite transporter |
| Reads supporting (aligned to +/- strand): ref base . (0/2); new base A (8/7); total (8/9) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 4.71e-01 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 8.68e-01 | |||||||||||
| * | NC_000913_3_hsa_tpiA | 1,544,022 | 0 | C | A | 87.5% | 42.2 / NA | 17 | L13F (TTG→TTT) | narU | nitrate/nitrite transporter |
| Reads supporting (aligned to +/- strand): ref base C (2/0); new base A (5/9); total (8/9) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 1.75e-01 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.00e+00 | |||||||||||
TTGAGATTAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCG‑C‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTG > NC_000913_3_hsa_tpiA/1543879‑1544155 ||| ttGAGATTAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCG‑A‑aaaaa < 1:150320/149‑2 (MQ=255) aCGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGAGTGATAGCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGAc < 2:28522/149‑1 (MQ=255) cgcTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTtctc > 1:322572/1‑149 (MQ=255) aTCCAGACACAGAAGGCAAGAAGTAGACAGCTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTACAGTAGAGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTg < 2:119490/149‑1 (MQ=255) aGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAC‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCAat > 2:3726/1‑149 (MQ=255) agaagTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACAt < 1:76859/149‑1 (MQ=255) gTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCCCATGcac > 1:463445/1‑149 (MQ=255) gactgaTATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCAGACGTTCCCACATTGGTaa < 2:491814/149‑1 (MQ=255) tCCAAAGATTTCTTCGATCCATTTGTTTTCCTGTTTTTTCCCAGAAGGCTGGATTTTCTGGTTTCCAGTCGCGAA‑AAAACATCACGACTATTTTGCTCATTTTGCAGTGCCATATTGTTCCTTACATGCACACATTGGTAATGaaaaaa < 2:244305/149‑1 (MQ=255) agatATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGa < 1:327257/149‑1 (MQ=255) agagATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAT‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCATCAGATGCACACCTTGGTAATGAAAAATAGa > 1:77045/1‑149 (MQ=255) ttcGAGCAATGTGTTTTCCTTTATTTTCCCAGAAGTCCGGATTTTCTGGCTTCCAGTCGGGAC‑GTAAAATCAAGGCTATTTTTCTCATTTTTCCGTGCCATATAGTTCCTCACATGCACAAATTGGTACTGGAATAAATACgaacgagg > 2:49195/1‑144 (MQ=255) tCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAg < 1:358824/149‑1 (MQ=255) cTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAATACAAAACACGAGGAAAGGCGCAATAGca > 2:142484/1‑148 (MQ=255) tttATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGCCGAAATAGCCa > 2:397863/1‑149 (MQ=255) ggCCGGATTTTCTGGTGTCCAGTCGCG‑AAAAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAg < 2:322408/149‑1 (MQ=255) ggTTTCCAGTCGCGAA‑AAAAGATAATGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGTACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTg > 1:387135/1‑149 (MQ=255) ||| TTGAGATTAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCG‑C‑AAAAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTG > NC_000913_3_hsa_tpiA/1543879‑1544155 |
| 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: ‑ |