| 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 | 84.6% | 51.2 / 3.6 | 26 | Q231* (CAG→TAG) | ptsG | fused glucose‑specific PTS enzymes: IIB component/IIC component |
| Reads supporting (aligned to +/- strand): ref base C (3/1); new base T (9/13); total (12/14) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 3.06e-01 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 7.99e-01 | |||||||||||
| Rejected as polymorphism: Variant not supported by required number of reads on each strand. | |||||||||||
TCTCAGTGGGCTGCTTACCAGAACCCGGTAGTTGCGTTTGGCATTTACGGTTTCATCGAACGTTGCCTGGTACCGTTTGGTCTGCACCACATCTGGAACGTACCTTTCCAGATGCAGATTGGTGAATACACCAACGCAGCAGGTCAGGTTTTCCACGGCGACATTCCGCGTTATATGGCGGGTGACCCGACTGCGGGTAAACTGTCTGGTGGCTTCCTGTTCAAAATGTACGGTCTGCCAGCTGCCGCAATTGCTATCTGGCACTCTGCTAAACCAGA > NC_000913_3_hsa_tpiA/1158415‑1158692 | tcccAGTGTGCTGCTTACCAGAACCCGGTAGTTGCGTTTGGCATCTACGTTTTCATCGACCGTTGCCTGGTACCGTTTGGTCTGCACCACATCTGGAACGTACCTTTCCAGATGCAGATTGGTGAATACACCAACGCAGcaggtcaggt < 1:512456/146‑1 (MQ=255) gctggtTACCCGCACCTGGTAGTTGCGTTTGGCATTTTCGGTTTCATCGATCGTTGTCTGGTACCGTTTGGTCTGCACCTCTTTTGGAACGTACCTTTCCAGATGCAGATTGGTGAATACACCAACGCAGCAGGTTAGGTTTTCCACgg < 2:86832/149‑1 (MQ=255) cAGAACCCGGTAGTTGCGTTTGGCATTTACGGTTTCATCGAACGTTGCCTGGTACCGGTTGGTCTGCACCACATCTGGAACGTACCTTTCCAGATGCAGATTGGTGAATACACCAACGCAGGCGCTTCTTTTTGCCACGGCGAAATTct > 1:282542/1‑148 (MQ=255) aGAACCCGGTAGTTGCGTTTGGCATTTACGGTTTCATCGAACGTTGCCTGGTAGCGTTTGGTCTGCACCACATCTGGAACGTACCTTTCCAGATGCAGATTGGTGAATACACCAACGCAGCAGGTCAGGTTTTCCACGGCGACATTCcg > 1:434105/1‑149 (MQ=255) acgtggTAGTTGCGTTGGGTATTTACGGTTTCATCGAAGTTTGGCTGATACCGTTTGGTCTGCAGCACATCTGGAACGTGCCTTTCCAGATGCAGATTGGTGAATTCACCAACGCAGCAGGTTCGGTGTTCCACGGCGACATTCCGCGt < 1:501716/145‑1 (MQ=37) cGGTAGTTGCTTTTGGCATTTACGGTTTCATCGAACGTTGCCTGGTACCGTTTGGTCTGCACCACGTCTGGAACGTACCGTGCCAGATTCAGATTGGTGAATACACCAACGCAGCAGGTTAGGTTTTCCACGGCGACATTCCGCGTtat < 1:368304/149‑1 (MQ=255) ttGGCATTTACGGTTTCATCGAACGTTGCCTGGTACCGTTTGGTCTGCACCACATCTGGAACGTACCTTTCCAGATGCAGATTGGTGAATACACCAACGCAGCAGGTTAGGTTTTCCACGGCGACATTCCGCGTTATATGGCGGGTGAc < 1:108982/149‑1 (MQ=255) aCGGTTTTATTGAACGTTGCCTGGTACGGCTGTTTCTGCACCTCATCCGGAACGTACTTTTCCAGATGTCGATTCGTGATTACTCCATCGCAGCAGGTTTGGTTGTCCACGGCGACATTCCGCGTTATATGGCGGGTGACCCGACTGCg < 2:262358/149‑1 (MQ=255) ggTTTCATCGAACGTTGCCTGGTACCGTTTGGTCTGCACCACATCTGGAACGTACCTTTCCAGATGCAGATTGGTGAATACACCAACGCAGCAGGTTAGGTTTTCCACGGCGACATTCCGCGTTATATGGCGGGTGACCCGACTGCggg < 2:382317/149‑1 (MQ=255) cGAACGTTGCCTGGTACCGTTTGGTCTGCACAGCAAAAGTGACTTACCTTTCCAGATGCAGATTGGTGAATACACCAACGCAGCAGGTTAGGTTTTCCACGGCGACATTCCGCGTTATATGGCGGGTGACCCGACTGCGGGTAAACTGt > 1:488226/1‑149 (MQ=255) gAACGTTGCCTGGTACCGTTTGGTCTGCACCACATCTGGAACGTACCTTTCCAGATGCAGATTGGTGAATACACCAACGCAGCAGGTTAGGTTTTCCACGGCGACATTCCGCGTTATATGGCGGGTGACCCGACTGCGGGTAAACTGTc < 1:216679/149‑1 (MQ=255) gaCGTTGCCGGCTACCGTTTTGTCTGCACCACATCTGGAACGTACCCTTCCAGAGGCAGATTGGTGAATACACCAACGCAGCAGGTCAGGTTTTCCACGGCGACATTCCGCGTTATATGGCGGGTGACCCGACTGCGGGTAAACTGTCt < 1:416046/148‑1 (MQ=255) tGGTACCGTTTGGTCTGCACCACATCTGGAACGTACCTTTCCAGATGCAGATTGGTGAATACACCAACGCAGCAGGTTAGGTTTTCCACGGCGACATTCCGCGTTATATGGCGGGTGACCCGACTGCGGGTAAACTGTCTGGTGGCTTc < 2:393835/149‑1 (MQ=255) gTACCGTTTGGTCTGCACCACATCTGGAACGGACCTTTCCAGATGCAGATTGGTGAATACACCAACGCAGCAGGTTAGGTTTTCCACGGCGACATTCCGCGTTATATGTCGGGTGACCCGACTGCGGGTAAACTGTCTGGTGGCTTCCt < 2:189507/149‑1 (MQ=255) ccGTTTGGTCTGCACCACATCTGGAACGTACCTTTCCAGATGCAGATTGGTGAATACACCAACGCAGCAGGTTAGGTTTTCCACGGCGACATTCCGCGTTATATGGCGGGTGACCCGACTGCGGGTAAACTGTCTGGTGGCTTCCTGtt < 1:514042/149‑1 (MQ=255) tttGGTCTGCACCACATCTGGAACGTACCTTTCCAGATGCAGATTGGTGAATACACCAACGCAGCAGGTTAGGTTTTCCACGGCGACATTCCGCGTTATATGGCGGGTGACCCGACTGCGGGTAAACTGTCTGGTGGCTTCCTGTTCaa > 1:536383/1‑149 (MQ=255) gTCTGCACCACATCTGGAACGTACCTTTCCAGATGCAGATTGGTGAATACACCAACGCAGCAGGTTAGGTTTTCCACGGCGACATTCCGCGTTATATGGCGGGTGACCCGACTGCGGGTAAACTGTCTGGTGGCTTCCTGTTCAAAATg > 1:536993/1‑149 (MQ=255) gCACCACATCTGGAACGTACCTTTCCAGATGCAGATTGGTGAATACACCAACGCAGCAGGTTAGGTTTTCCACGGCGACATTCCGCGTTATATGGCGGGTGACCCGACTGCGGGTAAACTGTCTGGTGGCTTCCTGTTCAAAATGTACg < 1:440499/149‑1 (MQ=255) ccacATCTGGAACGTACCTTTCCAGATGCAGATTGGTGAATACACCAACGCAGCAGGTTAGGTTTTCCACGGCGACATTCCGCGTTATAGGGCGGGTGACCCGACTGCGGGTAAACTGTCTGGTGGCTTCCTGTTCAAAATGTACGGTc > 1:2889/1‑149 (MQ=255) aTCTGGAACGTACCTTTCCAGATGCAGATTGGTGAATACACCAACGCAGCAGGTCAGGTTTTCCACGGCGACATTCCGCGTTATATGACGGGTGACCCGACTGCGGGTAAACTGCCGGGTGGCTTCCGGTTCAAGATGTACAGTCTGca > 2:379695/1‑148 (MQ=255) tACCTTTCCAGATGCAGATTGGTGAATACACCAACGCAGCAGGTCAGGTTTTCCACGGCGACATTCCGCGTTATATGGCGGGTGACCCGACTGCGGGTAAACTGTCTGGTGGCTTCCTGTTCAAAATGTACGTTCTGCCAGCTGCCGCa > 2:508898/1‑149 (MQ=255) cTTTCCAGATGCAGATTGGTGAATACACCAACGCAGCAGGTTAGGTTTTCCACGGCGACATTCCGCGTTATATGGCGGGTGACCCGACTGCGGGTAAACTGACTGGTGGCTTCCTGTTCAAAATGTACGGTCTGCCAGCTGCCGCAAtt > 2:439428/1‑149 (MQ=255) ccAGTTGCAGATTGGTGATTCCACTAACGCAGCAGGTTAGGTTTTCCACGGCGACAGTCCGCGTTATATGGCGGGTGACCCGACTGCGGGTAAACTGTCTGGTGGCTTTCTGTTCAAAATGTATGGTCTGCCAGCTGCCGCAATTGCTa < 2:501863/149‑1 (MQ=255) aTGCAGATTGGTGAATACACCAACGTAGCAGGTTAGGTTTTCCGCGGCGACATTCCGCGTTATATGGCGAGTGACCCGACTGCGGGTAAACTGTCTGGTGGATTCCTGTACAAAATGTACGGTCTGCCAGATGCCGCAATTGCTATCTg > 1:501785/1‑149 (MQ=255) gTGAATACACCAACACAGCAGGTTAGGTTTTCCACGGCGACATTCCGCGTTATATGGCGGGTGACCCGACTGCGGGTAAACTGTCTGTTGGCTTCCTGTTCCAAATGTCCGGTCTGCCCGCTGCCGCAATTGCTATGTCGCACTCTGcg > 2:193249/1‑148 (MQ=255) aaTATACAAACGCAGCAGGGTAGGTTTTCCAGGTTGACATTCCGCGTTTTATGGCGGGTGACCCGACTGCGGGTAAACTGTCTGGTGGCTTCCTGTTCACAATGTACGGTCTGCCAGCTGCCGCAATTGCTATCTGGCACTCTGCTaaa < 2:582434/149‑1 (MQ=255) acCAACGCAGCAGGTTAGGTTTTCCACGGCGACATTCCGCGTTATATGGAGGAGGACCCGACTGCGGGTAAACTGTCTGGTGGCTTCCTGTTCAAAATGTACGGTCTGCCAGCTGCCGCAATTGCTATCTGGCACTCTGCTAAACCAGa > 1:623805/1‑149 (MQ=255) | TCTCAGTGGGCTGCTTACCAGAACCCGGTAGTTGCGTTTGGCATTTACGGTTTCATCGAACGTTGCCTGGTACCGTTTGGTCTGCACCACATCTGGAACGTACCTTTCCAGATGCAGATTGGTGAATACACCAACGCAGCAGGTCAGGTTTTCCACGGCGACATTCCGCGTTATATGGCGGGTGACCCGACTGCGGGTAAACTGTCTGGTGGCTTCCTGTTCAAAATGTACGGTCTGCCAGCTGCCGCAATTGCTATCTGGCACTCTGCTAAACCAGA > NC_000913_3_hsa_tpiA/1158415‑1158692 |
| 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: ‑ |