| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | NC_000913_3_hsa_tpiA | 3,560,455:1 | +G | 100% | 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 | 94.1% | 85.3 / ‑0.9 | 34 | 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 . (1/1); new base G (11/20); total (12/22) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.00e+00 | |||||||||||
| Rejected as polymorphism: E-value score below prediction cutoff. | |||||||||||
| Rejected as polymorphism: Variant not supported by required number of reads on each strand. | |||||||||||
GATAAACAGCGTCGAGCCATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GG‑C‑CAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCAGTTCGATAATACCGTTGTGACGTTGTGT > NC_000913_3_hsa_tpiA/3560316‑3560596 | gATAAACAGCGTCGAGCCATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGACCTGGAAGGCAGCGCCGCACCGCCATGATGGG‑G‑CAGGATCa > 1:320851/1‑149 (MQ=255) aTAAACAGCGTCGAGCCATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GG‑CGCAGGATCAg > 1:96569/1‑149 (MQ=255) gTCGAGACATGTGGTATTGGCTCCGCGACGGTGCGGGCGATGCCCTCTGTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GG‑CGCAGGATCAGGTTTTGCTc < 2:161929/149‑1 (MQ=255) ggggATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GG‑CGCCGGATCAGGCTTTGCTCCGCCCGCCCAt > 2:10709/1‑149 (MQ=255) gggTTTTGCTCCGCCACTTTGCGGGCTATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GG‑CGCAGGATCAGGTTTTGCTCCGCCAGCTCAtt < 1:252651/149‑1 (MQ=255) ggATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GG‑CGCAGGATCAGGTTTTGCTCCGCCAGCTCATTg < 1:117096/149‑1 (MQ=255) ggATTTGCTCCGCCACTTTGCGGGCGATGCGATCTCTTTATTCGGTCGGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GG‑CGCAGGATCAGGTTTTGCTCCGCCAGCTCATTg < 1:357944/149‑1 (MQ=255) gtctGCTCCGTCGCTGTGGGGGCGAGGCGTTCTTTTTCGTCGGTCTGGGTGGCCTTGTGATCGTGCCACGGCGTGTTAACCGACCTGGAAGGCAGCGCCGCACCGCCCTGAT‑GG‑CGCAGGCTCAGGTTTTGCCCCGCCAGCTCATTGAg < 2:681897/146‑1 (MQ=255) cctcccattGCGGGCGATGCGTGCGTGCGCTTCGGTCTGAGTGGGCTTGCGAGCGTGCCACCGCGTGCTAACCGAACTCGCAGGCAGAGCCGCACCGCCATGAT‑GG‑CGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGCCgcggc < 2:648773/142‑1 (MQ=255) ccACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GG‑CGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGa > 1:494063/1‑149 (MQ=255) ttGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GG‑CGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGt < 1:367046/149‑1 (MQ=255) ccgtctGTTGCTTGGGTCTGGGTCGCCTTGCGTTCGTGCCTCGGCGTGTTAACCGAACTGGAAGGCCGCGCCGCCCCTCCATTAT‑GG‑CTCAGGATCAGGCTTTGCTCCGCCAGCTCATTGAGGTCTCGGTGAATCGTCTGCGGGCTGAc < 2:687792/146‑1 (MQ=255) gcTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GG‑CGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACg > 1:40518/1‑149 (MQ=255) tttCGTCGGTCTGGGTGGCCTTGGGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GG‑CGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGaaa < 2:184235/149‑1 (MQ=255) gTCTGGAGGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCACGAT‑GG‑CGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTAc < 2:643739/149‑1 (MQ=255) gcgggTGGCCTTGCGATCGTGCCACGGCGGGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GG‑CGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCa < 2:462030/147‑1 (MQ=255) cTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GG‑CGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCGCTTCgg > 2:684629/1‑149 (MQ=255) cTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GG‑CGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGCCTGACGGAGAAATGCTCTCCCAGCTCTTCgg > 1:118295/1‑149 (MQ=255) aTCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGAG‑CAAGCGGTGGTTGTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGa < 1:676368/149‑1 (MQ=255) ggCGTGTGAACCGAACTGAAAGAGAGCGCCGCACCGCCATGAT‑GG‑CGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCctg < 1:580307/149‑1 (MQ=255) ttAACCGAACTGGAAGGCAGCGCCGCACCGCCAAGAT‑GG‑CGCAGGAGCAGGTTTTGCGCCGCCAGCACAAAGCCAGCGCGGAGAATAGTCACAGGGCTGACAGAGAAATGCACTACCCGCCCCTCGGTACTGACATAACCCTGCTGttt > 2:160749/1‑149 (MQ=255) aCCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GG‑CGCAGGATCAGGTTTTGCCCCGGGTGCTTATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAAc < 1:157302/149‑1 (MQ=255) aCCGAAAGGGAAGGCATCGCCGCACCGCCATGAT‑GG‑CGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCCCGGCGAATAGTCTGCGGGCTGACGGACAAATGCTCTACCAGCTCTTCGGTACTGCCATAACCCTGCTGTTTAAc < 2:113902/149‑1 (MQ=255) aaCTGGAAGGCAGCGCCGCACCGCCATGAT‑GG‑CGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCAGt < 1:585700/149‑1 (MQ=255) aCTGGAAGGCAGCGCCGCACCGCCATGAT‑GG‑CGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCAGtt < 1:418934/149‑1 (MQ=255) tGGAAGGCAGCGCCGCACCGCCATGAT‑GG‑CGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCAGCTCg > 1:378281/1‑149 (MQ=255) tGGAAGGCAGCGCCGCACCGCCATGAT‑AG‑CGCGGGGTGAGGTTTTGCTTCGCCACCTCCTTGGGGGCGCGGCAGTTGGTCTGCGGGCTGACGGGGAAATGCTCTGCCTAATATTCGTTACTGACATACCCCTGCTCTTTTACGAGTTca > 2:158322/1‑148 (MQ=255) gAAGGCAGCGACGCACCGCCATGAT‑GG‑CGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCAGTTCGat < 2:667225/149‑1 (MQ=255) caacgCAGCGCGGCACCGCCATGAT‑GG‑CGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCAGTTCGat < 2:686445/145‑1 (MQ=255) gccgccCCGCCATGAT‑GG‑CGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCAGTTCGATAATACCGtt < 1:178055/149‑1 (MQ=255) gccgcACCGCCATGAT‑GG‑CGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCAGTTCGATAATACCGtt > 1:530839/1‑149 (MQ=255) ccATGAT‑GG‑CGCAGGATCATGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGGCTGCGGGCTGACGGAGAGATGCTCTACCTCCTCTTCAGTATCAACATACACCTGCTGGTCAACCACTTCCATCATCAGTTTGTGACGTtg > 2:638540/1‑149 (MQ=255) tgat‑gG‑CGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCAGTTCGATAATACCGTTGTGACGTTgtgt < 2:600346/149‑1 (MQ=255) tgat‑gG‑CGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCAGAAGATTGTGTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCAGTTCGATAATACCGTTGTGACGTTgtgt < 1:189919/149‑1 (MQ=255) | GATAAACAGCGTCGAGCCATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GG‑C‑CAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCAGTTCGATAATACCGTTGTGACGTTGTGT > NC_000913_3_hsa_tpiA/3560316‑3560596 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 8 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 22 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |