| Predicted mutation | ||||||
|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | annotation | gene | description |
| RA | NC_000913_3_hsa_tpiA | 3,560,455 | +G | intergenic (‑2/+1) | glpR ← / ← glpR | pseudogene, DNA‑binding transcriptional repressor;regulator; Energy metabolism, carbon: Anaerobic respiration; repressor of the glp operon/pseudogene, DNA‑binding transcriptional repressor;regulator; Energy metabolism, carbon: Anaerobic respiration; repressor of the glp operon |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | NC_000913_3_hsa_tpiA | 3,560,455 | 1 | . | G | 96.1% | 161.2 / 0.9 | 52 | intergenic (‑2/+1) | glpR/glpR | pseudogene, DNA‑binding transcriptional repressor;regulator; Energy metabolism, carbon: Anaerobic respiration; repressor of the glp operon/pseudogene, DNA‑binding transcriptional repressor;regulator; Energy metabolism, carbon: Anaerobic respiration; repressor of the glp operon |
| Reads supporting (aligned to +/- strand): ref base . (0/2); new base G (22/27); total (23/29) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 5.00e-01 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.03e-01 | |||||||||||
GCCGATATCGATAAACAGCGTCGAGCCATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGA‑T‑GGC‑CAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCAGTTCGATAATACCGTTGTGACGTTG > NC_000913_3_hsa_tpiA/3560307‑3560593 | gCCGATATCGATAAACAGCGTCGAGCCATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCAATCCTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGA‑T‑GGc < 2:556599/149‑1 (MQ=255) gATAAACAGCGTCGAGCCATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAATACAGCGCCGCACCGCCATGA‑T‑GGCGCAGGATCa < 1:673124/149‑1 (MQ=255) gATAAACAGCGTCGAGCCATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGA‑T‑GGCGCAGGATCa > 1:771259/1‑149 (MQ=255) aTAAACAGCGTCGAGCCATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGA‑T‑GGCGCAGGATCAg < 1:70977/149‑1 (MQ=255) aGCGTCCAGCCATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCGGCACCGCCATGA‑T‑GGCGCAGGATCAGGTTTTg < 1:145280/149‑1 (MQ=255) cGTCGAGCCATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGA‑T‑GGCGCAGGATCAGGTTTTGCt < 1:507717/149‑1 (MQ=255) aGCCATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGA‑T‑GGCGCAGGATCAGGTTTTGCTCCGcc > 1:838921/1‑149 (MQ=255) aGCCATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGA‑T‑GGCGCAGGATCAGGTTTTGCTCCGcc > 2:746595/1‑149 (MQ=255) gCCATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGA‑T‑GGCGCAGGATCAGGTTTTGCTCCGCCa < 1:746595/149‑1 (MQ=255) gggATTTGCTCCGCCACTTTGCGGGCGATGTGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGA‑T‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCAtt > 1:367237/1‑149 (MQ=255) gggATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGA‑T‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCAtt > 1:865193/1‑149 (MQ=255) gggATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCGTCGGTCTGGGTGGCCTTGCGAGCGTGCCACGGCGGGGTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGA‑T‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCAtt < 2:630808/149‑1 (MQ=255) gggATGTGCTTCGCCATTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGA‑T‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCAtt < 2:37691/149‑1 (MQ=255) aTTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTTTTTTTTTTTTGTAGCCTTGAGATCGTGCCACGGCGTGTTAACTGAACTGGAAGGCAGCGCCGCACCGCCATGA‑T‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCCCCTTGAg > 2:778061/1‑149 (MQ=255) aTTTGCGCCGCTAGTTTGCTGGCGATGCGCTTGTTTTTTTCGGTGTGGGTGGCGTTGCGATCGTGCCACGGCGTGTTAACGGAACTGGAAGGCAGCGCCGCACCGCCATGG‑T‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAg < 2:874278/149‑1 (MQ=255) tttGCTCCCCCACTCTGCGGGCGATGCGCTCTGTCTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGA‑T‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAgg < 1:155365/149‑1 (MQ=255) tCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGA‑T‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCGCATTGAGGTcgcg > 1:504676/1‑149 (MQ=255) cTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGA‑T‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATa < 1:592874/149‑1 (MQ=255) gATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGA‑T‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGc < 2:838921/149‑1 (MQ=255) gcgacctTTTTCTTCGGTCTGGGGGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAGG‑GGG‑CAGGATCAGGTTTTGCTCCGCCAGCTCATGGAGGTCGCTGCGAATAGTCTGCGGGCTGa < 2:359494/144‑1 (MQ=255) tctTTTCCGTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGA‑T‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATGGAGGTCGCGGCGAATAGTCTGCGGGCTGACGga < 1:17532/149‑1 (MQ=255) tttCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGA‑T‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGaaa < 1:837146/149‑1 (MQ=255) ttcgttcGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTTTTAACCGAACTGTAAGGCAGCGCCGCACCGCCATGA‑T‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGaaa < 1:363011/145‑1 (MQ=255) tcttcGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCACCGCACCGCCATGA‑T‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATg > 2:646879/1‑149 (MQ=255) gTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGA‑T‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTAc < 1:419931/149‑1 (MQ=255) gTCTGGGTGGCCTTGCAATCGTGCCACGGCCTGTTAACCGAACTGGAAAGCAGCGCCTCACCGCCATGA‑T‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTAc < 1:802487/149‑1 (MQ=255) tCTGGGTGGCCTTGCGATCGTGCCACGGCGCGTTAACCGAACTGTACGGCAGCACCGCCAAACCACCC‑C‑GGCACAGGATCATACTTAGCTCTGCCGGCCCGTTCATGACTGTTCGAATATTCTGCGGGCTGGCAGAGAAACGCTCTccc > 2:306800/1‑149 (MQ=255) tGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGA‑T‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTAc < 1:56814/146‑1 (MQ=255) tGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGA‑T‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTAc > 2:56814/1‑146 (MQ=255) tGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGA‑T‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGctct > 1:734334/1‑149 (MQ=255) ccTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGA‑T‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGGGAAATGCTCTACCAGCTCTTCg > 1:453145/1‑149 (MQ=255) tGCGAGCGGGCCACGGCGGGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGA‑T‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTa < 2:625704/149‑1 (MQ=255) gATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGA‑T‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTg > 2:471729/1‑149 (MQ=255) gATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGA‑T‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTg < 1:738020/149‑1 (MQ=255) aTCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGA‑T‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGa > 1:597054/1‑149 (MQ=255) aTCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGA‑T‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGa < 1:477205/149‑1 (MQ=255) cGTGCCAGGGCTGGTTAACCGAACTGGAAGGCAGCGCCGGACCGCCATGA‑TGGGG‑CAGGATCAGGTTTTGCTCCGGCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACa < 2:686273/149‑1 (MQ=255) cGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGA‑T‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACa < 2:504676/149‑1 (MQ=255) gTGCCACGGCTGGTTAACCGAACTGGAAGGCAGTGCCGCACCGCCATGA‑T‑GGCGCAGGATCAGGTTTTGCTCCGCCAGTTGATTGTGGTCGCGGCGAATAGTCTGCGTGCTGACGGAGAAATGCTCTACCAGCTCTTCCGTACtttcat < 2:700130/149‑6 (MQ=255) ccACGGTGGGCTAATCGAACTGGAAGGCAGCGGCGCACCTCCATGA‑T‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGTCGAATAGTCGGGGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAAc < 2:150036/149‑1 (MQ=255) cACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCGCGGCCAAAA‑T‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGACTAGTCTGCGGCGTGAGGGCGAAATGCTCTACCAGCGTTTCGGTACTGAGATAAcc > 2:232551/1‑149 (MQ=255) cGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGA‑T‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGTGGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCctgct > 2:441537/1‑149 (MQ=255) tgtTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGA‑T‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGt < 1:556889/149‑1 (MQ=255) ccGAACTGGAAGGCAGCGCCGCACCGCCAGGA‑T‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACCTAACCCTGCTGTTTAAcc > 1:180077/1‑149 (MQ=255) cGAACTGGAAGGCAGCGCCGCACCGCCATGA‑T‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCa < 2:597054/149‑1 (MQ=255) tGGAAGGCAGCGCCGCACCGCCATGA‑T‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGGCAATCGCCTGGGGGCTGCCGGCCAAACTTGCTACCAGCTCTTCGGTCCTGACCTAACCCAGCTGTTTAACCAGTTCg > 1:399301/1‑149 (MQ=255) gAAGGCAGCGCCGCACCGCCATGA‑T‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCAGTTCGat > 1:536508/1‑149 (MQ=255) gAAGGCAGCGCCGCACCGCCATGA‑T‑GGCGCAGGATCAGGGTTTGCGCCGCGAGCGCAGTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCAGTTCGat > 2:896966/1‑149 (MQ=255) ggCAGCGCCGCACCGCCATGA‑T‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCAGTTCGataat > 1:131027/1‑149 (MQ=255) gcACCGCCATGA‑T‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCAGTTCGATAATACCGTtgtg > 2:671421/1‑149 (MQ=255) gccGCCATGG‑T‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATACCCCTGCTGTTTAACCAGTTCGATAATACCGTTGTGAc < 2:764070/148‑1 (MQ=255) gCCATGA‑T‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCGGCTGTTTAACCAGTTCGATAATACCGTTGTGACGtt < 2:367237/149‑1 (MQ=255) ccATGA‑T‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCAGTTCGATAATACCGTTGTGACGTtg > 1:523809/1‑149 (MQ=255) | GCCGATATCGATAAACAGCGTCGAGCCATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGA‑T‑GGC‑CAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCAGTTCGATAATACCGTTGTGACGTTG > NC_000913_3_hsa_tpiA/3560307‑3560593 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 8 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |