| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | NC_000913_3_hsa_tpiA | 2,817,170 | C→A | 100% | 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 | 100.0% | 85.8 / ‑6.7 | 30 | E112* (GAA→TAA) | yqaB | fructose‑1‑P and 6‑phosphogluconate phosphatase |
| Reads supporting (aligned to +/- strand): ref base C (1/0); new base A (10/18); total (11/19) | |||||||||||
| 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. | |||||||||||
TCGGTTGCACGCCCATACGCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTCACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTAACGCATGCGGGT > NC_000913_3_hsa_tpiA/2817026‑2817304 | tCGGTTGCACGCCCATCCGCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGCTTCTGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATCGCGTAATCCCAGGTGCCCCAGCAACTCCTCAGCGAGCGCGCTTTCACTc > 2:49414/1‑149 (MQ=255) tGCACGCCCATACGCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGt < 1:483392/149‑1 (MQ=255) cACGCCCATACGCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTc < 1:307435/149‑1 (MQ=255) ctagaggCTGCGCGCACAACAAAAGTGTGTCGGGCGCGGGTTTATGGTGTTTGACGTGGTCGGCAGCGGCGCCGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGTTGGCGCTTTAGCTCCCCGTTCCTACa < 2:530985/143‑1 (MQ=255) cgcACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGcga < 2:606342/149‑1 (MQ=255) aacaaAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCATCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGAcc > 2:716579/1‑149 (MQ=255) gtgtCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACt < 1:438450/149‑1 (MQ=255) tgtCGGGAGCGGGTGGATGGTGTTGGACGTGATTGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGGGCCAGCAATGCCTCAGCGATGGCGCTTTAACCCCCCGGCCAGACTTCTATTGGGCGACGACCATGCCAACtt < 2:601015/149‑1 (MQ=255) tCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGGCCATGCCAACtttt > 2:225626/1‑149 (MQ=255) tcgcgcCGGTTCATGGTGTTTGACGTGATCGGCAGCGCCGACGGCGTCAACATCAGGGCGTGATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTca < 1:191723/147‑1 (MQ=255) tGGCGCGGGTTTATGGTGTTTGACGGTATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTca < 1:263020/149‑1 (MQ=255) ggggcgGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATACTGGCGTAATCCCCGGTGCCCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTcac < 1:497777/146‑1 (MQ=255) ttGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAg < 1:645845/149‑1 (MQ=255) tGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGTTGGCGCTTAAGCTTCGCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGc < 1:158616/149‑1 (MQ=255) gACGTGATCGGCAGCGACGACGTCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGTGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCg < 1:265670/149‑1 (MQ=255) tGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGCCAACACCAGCATTTCACCACATCAACAAGAGGAAGCGGTTc < 2:812869/149‑1 (MQ=255) cAGCGACCGCGGCGTTAAAATAATGGCGTAATCCCAGGTGCGGCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTa < 2:667689/149‑1 (MQ=255) acgacgGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCGTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCcag > 1:771512/1‑149 (MQ=255) accacgGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTGCAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCcag < 1:324200/146‑1 (MQ=255) ggCGTTAAAATAAGGGCGTCATCCCAGGTGCGCCAGCAATGCCCCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGATCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAgcagca < 2:366824/149‑1 (MQ=255) ggCATCAAAACCATGGCGCAATCCCAGGTGCGCCAGTAATGCCTCAGCGATGGCGCTTTAACTCCCTGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGGGGACGCGGCTCGACGCTATCCAgcagca < 1:755139/149‑1 (MQ=255) aaaaTAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATActtc > 2:586986/1‑149 (MQ=255) gCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCtt > 1:479283/1‑149 (MQ=255) gTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCt > 1:813369/1‑149 (MQ=255) tagggggcgcCAGCAAGGCCTCAGCGATGGCGATTTGCCCCCACGTCCTTGAGGCGGTTGGGGGACGAGCATGCCAACTTGTGACCACAACTTCAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGttttt < 2:383525/143‑1 (MQ=255) cAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGtttttt > 1:587788/1‑149 (MQ=255) cAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTCCTCCTGtttttt > 2:367576/1‑149 (MQ=255) aGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTaa < 1:641173/149‑1 (MQ=255) tCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGAATACTTCTTACTGCTTCTGTTTTTTCCCGCGCTAACGCCTGctg > 2:788197/1‑147 (MQ=255) aGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTAACGCATGCGGGt > 1:463350/1‑149 (MQ=255) | TCGGTTGCACGCCCATACGCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTCACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTAACGCATGCGGGT > NC_000913_3_hsa_tpiA/2817026‑2817304 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 8 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 27 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |