| 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 | 95.7% | 154.9 / ‑0.8 | 48 | 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 (17/28); total (18/30) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 5.28e-01 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.00e+00 | |||||||||||
GCCGATATCGATAAACAGCGTCGAGCCATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑G‑GC‑CAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCAGTTCGATAATACCGTTGTGAC > NC_000913_3_hsa_tpiA/3560307‑3560589 | gCCGATATCGATAAACAGCGTCGAGCCATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGCTCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCGCCGCCATGAT‑G‑Gc > 2:372010/1‑149 (MQ=255)gCCGATATCGATAAACAGCGTCGAGCCATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑G‑Gc < 2:426080/149‑1 (MQ=255) atatCGATGAACAGCGTCGAGCCATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑G‑Gcgcag < 2:327317/149‑5 (MQ=255) atatCGATAAACGGCTTCGAGCCATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑G‑Gcgcag < 2:361652/149‑5 (MQ=255) gATAAACAGCGTCGAGCCATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCCTGAT‑G‑GCGCAGGATCa < 1:736424/149‑1 (MQ=255) aTAAACAGCGTCGAGCCATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑G‑GCGCAGGATCAg > 2:628925/1‑149 (MQ=255) aTAAACAGCGTCGAGCCAGTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTTGCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑G‑GCGCAGGATCAg < 1:162796/149‑1 (MQ=255) aGCGTCGAGCCATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑G‑GCGCAGGATCAGGTTTTg > 1:757376/1‑149 (MQ=255) gTCGAGCCATTGGGGATTTGCTGCGCCACTTGGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGGGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑G‑GCGCAGGATCAGGTTTTGCTc < 2:334836/149‑1 (MQ=255) aGCCATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑G‑GCGCAGGATCAGGTTTTGCTCCGcc > 1:662893/1‑149 (MQ=255) ccATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑G‑GCGCAGGATCAGGTTTTGCTCCGCCAg < 1:804227/149‑1 (MQ=255) ttGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑G‑GCGCAGGATCAGGTTTTGCTCCGCCAGccc > 2:117099/1‑147 (MQ=255) ggATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGCGGTAGGGGCGGCACCGCCATGAT‑G‑GCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTg > 1:827547/1‑149 (MQ=255) aTTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GAAT‑GATGATCAGGTTTTGCTCCGCCAGCTCATTGAg < 1:628925/149‑1 (MQ=255) ccGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCGGGGTGGCCTTGCGATCGTGCCACGGCGGGTTACCCGGACTGGAAGGCAACGCAGCACCGCCATGAT‑G‑GCACAGGATCAGTTTTTGCCACCCCAGCTCATTGAGGtgccgc > 2:199059/1‑144 (MQ=255) cACTTGGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑G‑GCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGaa < 2:510367/149‑1 (MQ=255) cTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑G‑GCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATa < 2:126647/149‑1 (MQ=255) cTTTGCGGGCGATGCGCTCTTTTTCGTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑G‑GCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATa < 2:126075/149‑1 (MQ=255) cGGGCGATGCGCTATTTTTCGTCGGGCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑G‑GCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTg < 2:558130/149‑1 (MQ=255) gggCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑G‑GCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGc < 1:720667/149‑1 (MQ=255) gATGCGCTCCTTTCCTTCGGTCTGGGTGCTCTTGCGATCGTGTCATTGCCTGCGAACCGAACTGGAAGGCAGCGCCGCACCGTTATGAT‑G‑GCGCATGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGc < 1:539168/149‑1 (MQ=255) gcgcTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑G‑GCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGa > 2:478457/1‑149 (MQ=255) tttttCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑G‑GCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCgcgg > 1:796441/1‑124 (MQ=255) tttttCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑G‑GCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCgcgg < 2:796441/124‑1 (MQ=255) tttCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑G‑GCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGaaa < 1:531241/149‑1 (MQ=255) tcttcGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCACCTGCCCTGGGCCATGAT‑G‑GCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATg < 1:198304/149‑1 (MQ=255) tGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑G‑GCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAg > 1:609363/1‑149 (MQ=255) ggccgggCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑G‑GCGCAGGATCAGGTTTGGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCtt < 1:294072/143‑1 (MQ=255) ggCCTGGCGATCGTGCCACGGCGTGTCAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑G‑GCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCtt < 2:236780/149‑1 (MQ=255) gATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑G‑GCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTc > 2:844388/1‑142 (MQ=255) gATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑G‑GCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTc < 1:844388/142‑1 (MQ=255) tCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑G‑GCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGAc < 1:229666/149‑1 (MQ=255) cACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑G‑GCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATa > 2:240582/1‑96 (MQ=255) cACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑G‑GCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATa < 1:240582/96‑1 (MQ=255) cACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑G‑GCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGc > 1:134654/1‑120 (MQ=255) cACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑G‑GCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGc < 2:134654/120‑1 (MQ=255) gtgtTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑G‑GCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCctgctg > 2:229815/1‑149 (MQ=255) tgtTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑G‑GCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGCCATAACCCTGCTGt > 2:71339/1‑149 (MQ=255) tgtTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑G‑GCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGt < 2:609363/149‑1 (MQ=255) aaCCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑G‑GCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTaa < 2:72833/149‑1 (MQ=255) aaCCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑G‑GCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTaa < 2:662893/149‑1 (MQ=255) aCCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑G‑GCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAAc < 2:757376/149‑1 (MQ=255) cGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑G‑GCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCa < 1:230560/149‑1 (MQ=255) gAACTGGAAGGCAGCGCCGCACCGCCATGAT‑G‑GCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCgcggc > 1:774707/1‑76 (MQ=255) gAACTGGAAGGCAGCGCCGCACCGCCATGAT‑G‑GCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCgcggc < 2:774707/76‑1 (MQ=255) agatGGGAGGCAGGGCCGGGCGGCCATGATGG‑GG‑CAGGATCAGGTTTTGCTCGGCCAGCGCATTGAGGTCGGGGCGAATAATCTGCGGGCTAATGGAGAAATGCTCTACCAGCTTTTTGGTACTGACATAACCCTGCTGTTTAACCatt < 2:218782/146‑3 (MQ=255) aCTGGAAGGCAGCGCCGCACCGCCATGAT‑G‑GCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCAGtt < 1:117099/149‑1 (MQ=255) gAAGGCAGCGCCGCACCGCCATGAT‑G‑GCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCAGTTCGat > 1:671288/1‑149 (MQ=255) aaGGCAGCGCCGCACCGCCATGAT‑G‑GCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCAGTTCGata < 2:196546/149‑1 (MQ=255) aGCGCCGCACCGCCATGAT‑G‑GCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCAGTTCGATAATAcc > 2:317706/1‑149 (MQ=255) aCCGCCATGAT‑G‑GCGCAGGATCAGGTTTTGCTCCGCCAGCTCATGGGGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCAGTTCGATAATACCGTTGTAAc > 1:546477/1‑149 (MQ=255) aCCGCCATGAG‑G‑TCGCAGGATCAGGTTTGGCGCCGCCATCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCTGTACTGACATAACCCTGCTGTTTAACCAGTTCGATAATACCGTTGTGAc < 1:175419/149‑1 (MQ=255) | GCCGATATCGATAAACAGCGTCGAGCCATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑G‑GC‑CAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCAGTTCGATAATACCGTTGTGAC > NC_000913_3_hsa_tpiA/3560307‑3560589 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 13 ≤ ATCG/ATCG < 37 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |