| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | NC_000913_3_hsa_tpiA | 1,158,559 | C→T | 100% | Q231* (CAG→TAG) | ptsG → | fused glucose‑specific PTS enzymes: IIB component/IIC component |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | NC_000913_3_hsa_tpiA | 1,158,559 | 0 | C | T | 100.0% | 67.9 / NA | 25 | Q231* (CAG→TAG) | ptsG | fused glucose‑specific PTS enzymes: IIB component/IIC component |
| Reads supporting (aligned to +/- strand): ref base C (0/0); new base T (12/13); total (12/13) | |||||||||||
| Rejected as polymorphism: Frequency below/above cutoff threshold. | |||||||||||
| Rejected as polymorphism: Variant not supported by required number of reads on each strand. | |||||||||||
CTCTCAGTGGGCTGCTTACCAGAACCCGGTAGTTGCGTTTGGCATTTACGGTTTCATCGAACGTTGCCTGGTACCGTTTGGTCTGCACCACATCTGGAACGTACCTTTCCAGATGCAGATTGGTGAATACACCAACGCAGCAGGTCAGGTTTTCCACGGCGACATTCCGCGTTATATGGCGGGTGACCCGACTGCGGGTAAACTGTCTGGTGGCTTCCTGTTCAAAATGTACGGTCTGCCAGCTGCCGCAATTGCTATCTGGCACTCTGCTAAACCAGA > NC_000913_3_hsa_tpiA/1158414‑1158692 | ctctcAGTGGGCTGCTTACCAGAACCCGGTAGTTGCGTTTGGCATTTACGGTTTCATCGAACGTTGTCTGGTACCGTTTGGTCTGCCCCACATCTGGAACGTACCTTTCCAGATGCAGATTGGTGAATACACCAACGCAGcaggttagg < 2:375058/149‑1 (MQ=255)ctcccAGTGGGCTGCTTACCAGAACCCGGTAGTTGCGTTTGGCATTTACGGTTTCATCGAACGTTGCCTGGTACCGTTTGGTCTGCACCACATCTGGAACGTACCTTTCCAGATGCAGATTGGTGAATACACCAACGCAGcaggttagg < 1:297845/149‑1 (MQ=255) tGGGCTGCTTACCAGAACCCGGTAGTTGCGTTTGGCATTTACGGTTTCATCGACCGTTGCGCGGTCCCGTTTGGTCTGCACCACATCTGGAACGTCCCTTTCCAGATGGAGATTGGTGAATACACCAACGCAGCAGGTTAGGTTTGCCa > 1:407578/1‑149 (MQ=255) gctggtTACCAGAACCGTGTAGTTGCGTTTGGCATTTACGGTTTCATCGAACGTTGCCTGGTACCGTTTGGTCTGCATCACATCTGGAACGTACCTTTCCAGATGCAGATTGGTGAATACACCAACGCAGCAGGTTAGGTTTTCCACgg < 2:15054/149‑1 (MQ=255) ctgctTACCAGAACCCGGTAGTTGCGTTTGGCATTTACGGTTTCATCGAACGTTGCCTGGTACCGTTTGGTCTGCACCACATCTGGAACGTACCTTTCCAGATGCAGATTGGTGAATACACCAACGCAGCAGGTTAGGTTTTCCACGGc > 1:48533/1‑149 (MQ=255) ccAGAACCCGGTATTTTCGTTTGTCATTTTTGGTTTTATTGAACTTTGCTTGGTACCGTTTGGTCTGCACCACATCGGGAACGGACCTTTCCAGATGCAGATTGGTGAATACACCAACGCAGCAGGTTAGGTTTTCCACGGCGACATTc < 1:158947/149‑1 (MQ=255) cctgTATTTGCGTTTGGCATTTACGTTTTCATCGAACGTTGCCTGGTACCGTTTGGTCTGCACCACATCTGGAACGTACCTTTCCAGATGCAGATTGGTGAATACACCAACGCAGCAGGTTAGGTTTTCCACGGCGACATTCCGCGTta < 1:434055/146‑1 (MQ=255) ccGGTAGTTGCGTTTGGCATTTACGGTTTCATCGAACGTTGCCTGGTACCGTTTGGTCTGCACCACATCTGGAACGTACCTTTCCAGATGCAGATTGGTGAATACACCAACGCAGCAGGTTAGGTTTTCCACGGCGACATTCCGCGTta > 1:21488/1‑149 (MQ=255) ccGGTAGTTGCGTTTGGCATTTACGGTTTCATCGAACGTTGCCTGGTACCGTTTGGTCTGCACCACATCTGGAACGTACCTTTCCAGATGCAGATTGGTGAATACACCAACGCAGCAGGTTAGGTTTTCCACGGCGACATTCCGCGTta > 2:230260/1‑149 (MQ=255) ttGCGTTTGGCATTTACGGTTTCATCGAACGTTGCCTGGTACCGTTTGGTCTGCACCACATCTGGAACGTACCTTTCCAGATGCAGATTGGTGAATACACCAACGCAGCAGGTTAGGTTTTCCACGGCGACATTCCGCGTTATATGGCg > 2:158636/1‑149 (MQ=255) cATTTACGGTTTCATCGAACGTTGCCTGGTACCGTTTGGTCTGCACCACATCTTGAACGTACCTTTCCAGATGCAGATTGGTGTATATTCCATCGCAGCAGGTTCGGTTTTCCACGGCGACATTCCGCGTTATATGGCGGGTTACCCGa < 2:669386/149‑1 (MQ=255) aTTTACGGTTTCATCGAACGTGTGTTGGTACCGTTTGGTCTGCACCACATCTGGAACGTACCTTTCCAGATGCAGATTTGTGAATACACCAACGCAGCAGGTTAGGTTTTCCACGGCGACATTCCGCGTTATATGGCGGGTGACCCGAc < 2:117165/149‑1 (MQ=255) aCGGTTTCATCGAACGTTGCCTGGTACCGTTTGGTCTGCACCACATCTGGAACGTACCTTTCCAGATGCAGATTGGTGAATACACCAACGCAGCAGGTTAGGTTTTCCACGGCGACATTCCGCGTTATATGGCGGGTGACCCGACTGCg > 1:8866/1‑149 (MQ=255) cGGTTTCATCGAACGCGGCCTGGTACCGTTTGGCCTGCACCACATCTGGAACGTACCTTTCCAGATGCAGATTGGTGAATACACCAACGCAGCAGGTTAGGTTTTCCACGGCGACATTCCGCGTTATATGGCGGGTGACCCGACTGCgg < 1:437322/149‑1 (MQ=255) aTCGAACGTTGCCTGGTACCGTTTGGTCTGCACCACATCTGGAACGTACCTTTCCAGATGCAGATTGGTGAATACACCAACGCAGCAGGTTAGGTTTTCCACGGCGACATTCCGCGTTATCTGGCGGGTGACCCGACTGCGGGTAAACt > 2:639618/1‑149 (MQ=255) tCGAACGTTGCCTGGTACCGTTTGGTCTGCACCACATCTGGAACGTACCTTTCCAGATGCAGATTGGTGAATACACCAACGCAGCAGGTTAGGTTTTCCACGGCGACATTCCGCGTTATATGGCGGGTGCCCCGACTGCGGGTAAACTg > 1:671275/1‑149 (MQ=255) gTTGCTTGGTACGGTTTGCTCTGCACCACCGCGGGAAGGTACCTTTCCAGATGCAGATTGGTGACTACACCAACGCAGCAGGTTAGGTTTTCCACGGCGACATTCCGCGTTATATGGCGGGTGTCCCGACTGCGGGTAAACTGTCtggt < 2:198930/149‑1 (MQ=255) cTGGTACAGTTTGGTCTGCACCACATCTGGAACGTACCTTTCCAGATGCAGATTGGTGAATACACAAACGCAGCAGGTTAGGTTTTCCACGGCGACATTCCGCGTTGTATGGCGGGTGACCCGACGGCGGGTGAACTTTCTGGTTGCtt > 2:276230/1‑149 (MQ=255) tGGTATCGTTTGGTCTGAACCACATCTGGAACGTACCTTTCCTTATGCAGATGGGTGAAGACACCAACGCAGCAGCTTAGGTTTTCCACGGCGCCATTTCGCGTTATTTGGCTGTTGACCCGACTGCGGGTAAACTGTCTTGTGGCTTc < 2:195832/149‑1 (MQ=255) gCACCACATCTGGAACGTACCTTTCCAGCTGCAGATTGGTGAATACACCAACGCAGAAGGTTAGGTTTTCCACGGCGACATTCCGCGTTATATGGCGGGTGACCCGACTGCGGGTAAACTGTCTGGTGGCTTCCTGTTCACAATGTACg > 2:289709/1‑149 (MQ=255) cacaTCTGGAACGTACCTTTCCAGATGCAGATTGGTGAATACACCAACGCAGCAGGTTAGGTTTTCCACGGCGACATTCCGCGTTATATGGCGGGTGACCCGACTGCGGGTAAACTGTCTGGTGGCTTCCTGTTCAAAATGTACGGTCt < 1:230260/149‑1 (MQ=255) acaTCTGGAACGTACCTTTCCAGATGCAGATTGGTGAATACACCAACGCAGCAGGTTAGGTTTTCCACGGCGACATTCCGCGTTATATGGCGGGTGACCCGACTGCGGGAAAACTGTCTGGTGGCTTCCTGTGCAAAATGTACgctttg > 2:541097/1‑144 (MQ=255) tGGAACGTACCTTTCCAGATGCAGATTGGTGAATACACCAACGCAGCAGGTTAGGTTTTCCACGGCGACATTCCGCGTTATATGGCGGGTGACCCGACTGCGGGTAAACTGTCTGGTGGCTTCCTGTTCAAAATGTACGGTCTGCCAGc < 1:54106/149‑1 (MQ=255) cctACCTTTTCAGATGCCGGTTTGTGAATAGCCCAACGCCGCAGGTTAGGTTTTCCACGGCGCCATTCCTCGTCATGTGGCGGGTGACCCGACTGCGGGTAAACTGTCTGGTGGCTTCCTGTTTAATATGTACGGTCTGTCAGCTGCCg < 2:566219/147‑1 (MQ=255) tGGTGAATACCCCAACGCAGTAGGTTAGGTTTTCCACGGCGACATTCCGCGTTATATGGCGGGTGACCCGACTGCGGGTAAACTGTCTGGTGGCTTCCTGTTCAAAATGTACGGTCTGCCAGCTGCCGCAATTGCTATCTGGCACTCTg < 2:521157/149‑1 (MQ=255) acacCAACGCAGCAGGTTAGGTTTTCCACGGCGACATTCCGCGTTATATGGCGGGTGACCCGACTGCGGGTAAACTGTCTGGTGGCTTCCTGTTCAAAATGTACGGTCTGCCAGCTGCCGCAATTGCTATCTGGCACTCTGCTAAACCa < 1:175707/149‑1 (MQ=255) acCAACGCAGCAGGTTAGGTTTTCCACGGCGACATTCCGCGTTATATGGCGGGTGACCCGACTGCGGGTAAACTGTCTGGTGGCTTCCTGTTCAAAATGTACGGTCTGCCAGCTGCCGCAATTGCTATCCGGCACTCTGCTACACCAGa > 1:100263/1‑149 (MQ=255) | CTCTCAGTGGGCTGCTTACCAGAACCCGGTAGTTGCGTTTGGCATTTACGGTTTCATCGAACGTTGCCTGGTACCGTTTGGTCTGCACCACATCTGGAACGTACCTTTCCAGATGCAGATTGGTGAATACACCAACGCAGCAGGTCAGGTTTTCCACGGCGACATTCCGCGTTATATGGCGGGTGACCCGACTGCGGGTAAACTGTCTGGTGGCTTCCTGTTCAAAATGTACGGTCTGCCAGCTGCCGCAATTGCTATCTGGCACTCTGCTAAACCAGA > NC_000913_3_hsa_tpiA/1158414‑1158692 |
| 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: ‑ |