| Predicted mutation | ||||||
|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | annotation | gene | description |
| RA | NC_000913_3_hsa_tpiA | 2,817,170 | C→A | E112* (GAA→TAA) | yqaB ← | fructose‑1‑P and 6‑phosphogluconate phosphatase |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | NC_000913_3_hsa_tpiA | 2,817,170 | 0 | C | A | 95.6% | 132.8 / ‑0.5 | 45 | E112* (GAA→TAA) | yqaB | fructose‑1‑P and 6‑phosphogluconate phosphatase |
| Reads supporting (aligned to +/- strand): ref base C (1/1); new base A (15/28); total (16/29) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 3.68e-01 | |||||||||||
GGTTGCACGCCCATACGCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAAT‑GCCTCAGCGATGGCGCTTTCACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTAACGCATGCGGGTCGAGAT > NC_000913_3_hsa_tpiA/2817028‑2817310 | ggTTGCACGCCCATACGCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAAT‑GCCTCAGCGATGGCGCTTTAACTccc < 1:41699/149‑1 (MQ=255) ttGCACGCCCATACGCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATACTGACGTAAGCCCAGGTGCGCCAGCAAT‑GCCTGAGCGATGGCGCTTTAACTCCCCg > 1:238545/1‑149 (MQ=255) aCGCCCATACGCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAAT‑GCCTCAGCGATGGCGCTTTAACTCCCCGTTcc < 1:228302/149‑1 (MQ=255) ggtGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAAT‑GCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCAtt < 2:490599/147‑1 (MQ=255) gCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGAAGTGATCAACAGCAACGACAGCGTCAAAATAATGGCGTGAGCCAAGG‑AAGCTAGTATTCGCCTCAACGATGACGCTTTATATCCCAGTTCCTAAAGCCaat > 1:538758/1‑147 (MQ=255) gCTGCGCGCACAACAAAAAGGTGTCTGGCGCGGGTTTATGGTGTTTGATGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAAT‑GCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCAtt < 1:164932/149‑1 (MQ=255) tGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAAT‑GCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTgg < 1:360330/149‑1 (MQ=255) cgcgcACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAAT‑GCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGc < 2:591790/149‑1 (MQ=255) gcACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAAT‑GCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGcgac < 1:276953/149‑1 (MQ=255) acaacaAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAAT‑GCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGcgacga > 1:782990/1‑149 (MQ=255) aacaaAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAAT‑GCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTCCAGCCATTGGGCGACGAcc > 1:324071/1‑149 (MQ=255) caaAAATGTGTCTGGCGCGGTTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAAT‑GCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCAt < 1:323580/149‑1 (MQ=255) caaAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAAT‑GCCTCAGCGATGGCGCTTTAACTCCCCGTGCCTACAGCCATTGGGCGACGACCAt > 1:608573/1‑149 (MQ=255) tgtCTTGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAAGAATGGCGTAATCCCAGGTGCGCCAGCAAT‑GCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACtt < 1:569636/149‑1 (MQ=255) tGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAAT‑GCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTca < 2:426712/149‑1 (MQ=255) tGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAAT‑GCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTca < 1:357151/149‑1 (MQ=255) tGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAAT‑GCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTca < 1:233540/149‑1 (MQ=255) ggCGCGGGTTTATGGTGGTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAAT‑GCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTcac < 1:322349/149‑1 (MQ=255) gcgcGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAAT‑GCCTCAGCGATGGCGCTTTAACTCCCCGTTc < 1:681546/111‑1 (MQ=255) gcgcGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAAT‑GCCTCAGCGATGGCGCTTTAACTCCCCGTTc > 2:681546/1‑111 (MQ=255) aTGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAAT‑GCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATcaacaa > 2:466194/1‑149 (MQ=255) tGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAAT‑GCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAag < 1:313823/149‑1 (MQ=255) ggTGTTTGCCGGCATCGACAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAAT‑GCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAaga < 1:143328/149‑1 (MQ=255) ggTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAAT‑GCCTCAGCGATGGCGCTTTCACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAaga > 2:511712/1‑149 (MQ=255) ggTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAAT‑GCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAaga < 1:334560/149‑1 (MQ=255) gACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAAT‑GCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCg > 1:229621/1‑149 (MQ=255) ggTGAACGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAAG‑GCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGt < 2:682351/148‑1 (MQ=255) cGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAAT‑GCCTCAGCGATGGCGCTTTCACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACg < 1:511712/149‑1 (MQ=255) cGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAAT‑GCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACg > 1:7255/1‑149 (MQ=255) cAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAAT‑GCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTACGCCGCTa > 2:417115/1‑149 (MQ=255) gCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAAT‑GCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGCCGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATc > 2:680082/1‑149 (MQ=255) gacgGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAAT‑GCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCcagca < 1:466194/149‑1 (MQ=255) gacgGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAAT‑GCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCcagca < 1:317615/149‑1 (MQ=255) gacgGCGTCAAAATAATGCCGTAATCCCAGGTGCGCCAGCAAT‑GCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCcagca < 1:153334/149‑1 (MQ=255) tGGCGTAATCCCAGGTGCGCCAGCAAT‑GCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGc < 2:7255/149‑1 (MQ=255) ggCGTAATCCCAGGTGCGCCAGCAAT‑GCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCt < 2:111988/149‑1 (MQ=255) gCGTAATCCCAGGTGCGCCAGCAAT‑GCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCGGCAGCATACTTCTTAc > 2:844902/1‑144 (MQ=255) gCGTAATCCCAGGTGCGCCAGCAAT‑GCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTAc < 1:844902/144‑1 (MQ=255) gCGTAATCCCAGGTGCGCCAGCAAT‑GCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCtt < 1:638734/149‑1 (MQ=255) cGTAATCCCAGGTGCGCCAGCAAT‑GCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTc < 2:760803/149‑1 (MQ=255) aaT‑GCCTCAGCGATGGCGCTTTAAATCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTAACGc > 2:17050/1‑149 (MQ=255) ccTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCCCATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATCCGTCTTTCTGCTTCTGTTTTTTCACCCGCTAACCCAttc > 1:219603/1‑147 (MQ=255) tCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTAACGCATGCgg > 1:13024/1‑149 (MQ=255) gCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGAAGCCATCCAGCAGCATCCTTCTTACTGCTTCTGTTTTTTCAAGCGCTAACGCATGCGGGTc < 2:711322/149‑1 (MQ=255) ggCGCGTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTAACGCATGCGGGTCGAGAt < 2:296834/149‑1 (MQ=255) | GGTTGCACGCCCATACGCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAAT‑GCCTCAGCGATGGCGCTTTCACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTAACGCATGCGGGTCGAGAT > NC_000913_3_hsa_tpiA/2817028‑2817310 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 22 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |