| 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 | 93.8% | 45.7 / ‑3.7 | 16 | 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 . (1/0); new base G (8/7); total (9/7) | |||||||||||
| 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 | |||||||||||
ATAAACAGCGTCGAGCCATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGC‑CAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCAGTTCGATAATACCGTTGTGAC > NC_000913_3_hsa_tpiA/3560317‑3560589 | aTAAACAGCGTCGATCCATTGGGGATTTGCGCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAg < 2:223634/149‑1 (MQ=255) gAGCCATTGGGGATTTGCTCCGCCACTTTGCAGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGAGCGTGCCACGTCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCCGGAGCAGGCTTTGCTCCGc > 1:4512/1‑149 (MQ=255) ttGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATGGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCGCCGCCATGATGGGG‑CGGGATCAGGTTTTGGTCCGCACGCTc > 1:176119/1‑149 (MQ=255) gATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGCT‑GGCGCAGGATCCGGTTTTGCTCCGCCAGCTCATTGa > 2:162583/1‑149 (MQ=255) gCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCATGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTcg > 1:343642/1‑149 (MQ=255) tCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTAAAGGTGGTCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTcgcg < 1:78191/149‑1 (MQ=255) tCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCCGTCTGCGTTGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTcgcg < 1:78144/149‑1 (MQ=255) cGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATAAGGTTTTGCTCCGCCAGCTCATTGAGTTCgcggc > 2:313761/1‑149 (MQ=255) cTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCACCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATa < 1:370284/149‑1 (MQ=255) cgctctGCGCCCTTTTCCTTCGTCCTGGGTGGCCTCGCGATCGCGCCACGGCGTGCTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGAATCAGTTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCg < 2:176119/144‑1 (MQ=255) tGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGCCGAATAGTCTgctggctg > 1:95242/1‑149 (MQ=255) cttcGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGc < 2:294220/149‑1 (MQ=255) ttcGGTCTGGGTGGCCTTGCGATCGTGCCACCGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGACAAATGcg > 2:3884/1‑148 (MQ=255) ggCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCtt < 1:263464/149‑1 (MQ=255) cGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATAAT‑GGCGCAGGATCATGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACa > 1:369618/1‑149 (MQ=255) aCCGCCATGAT‑GGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTACCCAGTTCGATAATACCGTTGTGAc > 2:266714/1‑149 (MQ=255) | ATAAACAGCGTCGAGCCATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGAT‑GGC‑CAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCAGTTCGATAATACCGTTGTGAC > NC_000913_3_hsa_tpiA/3560317‑3560589 |
| 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: ‑ |