| 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 | 96.4% | 86.1 / ‑3.7 | 28 | 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 . (0/1); new base G (13/14); total (13/15) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.97e-01 | |||||||||||
GCCGATATCGATAAACAGCGTCGAGCCATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGA‑TGGC‑CAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCAGTTCGATAATACCGTTGTGACGTT > NC_000913_3_hsa_tpiA/3560307‑3560592 | gtcggtatCGATGAACGTCGTAGGGCGATTGGGGAGTTGCGCCGCCACTTTGCGGGCGATGCGCTCTTTTTCGTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGA‑TGGc < 2:348137/144‑1 (MQ=255) ccGATATCGATAAACAGCGTCGAGCCATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGA‑TGGcg > 1:343826/1‑148 (MQ=255) gtatCGATAAACAGCGTCGAGCCATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGA‑TGGcgcag > 1:333201/2‑145 (MQ=255) aCAGCGTCGAGCCGTTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGA‑TGGCGCAGGATCAGGttt > 2:719033/1‑149 (MQ=255) aCAGCGTCGAGCCATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGA‑TGGCGCAGGATCAGGttt > 2:602388/1‑149 (MQ=255) gtggggCCATTGGGGATTTGCTCGGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGA‑TGGCGCAGGATCAGGTTTTGCTc < 2:229853/144‑1 (MQ=255) gTCGAGCCATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCCTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAAAAGCCCATGGACACAACACCACACCGCCATGA‑TTGCGCAGGATCAGGTTTTGCTc > 1:396732/1‑149 (MQ=255) tCGAGCCATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGA‑TGGCGCAGGATCAGGTTTTGCTcc < 1:211648/149‑1 (MQ=255) aTTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGA‑TGGCGCAGGATCAGGTTTTGCTCCGCCAGCt > 2:582296/1‑149 (MQ=255) cTCGGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGA‑TGGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTcgc < 2:40836/149‑1 (MQ=255) gCGGGCGCTGCGCTCTTTGTATTCGGTCTGGGTGGCATTGCGATTGTGCAACGGCGTGTTAACAACAGTCGAAATGACCCACAAAGCGTGTTGAGTGCG‑CAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCt < 1:403616/149‑1 (MQ=255) ggggCGATGTGGTTTTTTGGTTCGGGCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGACGGCCGCGCCGCGCGGCTATGA‑TGGCGCAGGATCAGGTTTGGCTCCGCCAGCTCATTGTGGTCGCGGCGAATAGTCTg < 2:344068/148‑1 (MQ=255) cgcTCTTTTTTTGCGGGCTGGGTGGCCTTGCGATCGTGCTACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCTATGA‑TGGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGAc < 2:676436/149‑1 (MQ=255) tctTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGA‑TGGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGga < 1:303377/149‑1 (MQ=255) tctTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGA‑TGGCGCAGGAACAGGTTTTGCTCCGCCCGCGCATTGCGGTCGCGGCAGATAGTCCGCGGGGTGACGga > 1:790576/1‑149 (MQ=255) tttgctCTGGGTGGCCTTGCGGTCGTGCCGCGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGA‑TGGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGct < 2:570778/144‑1 (MQ=255) ttcGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGA‑TGGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCgg < 1:555014/132‑1 (MQ=255) ttcGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGA‑TGGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCgg > 2:555014/1‑132 (MQ=255) gTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGA‑TGGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTAc < 2:333201/149‑1 (MQ=255) ggTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGA‑TGGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGct > 1:176750/1‑149 (MQ=255) ccTTGCGATCGGGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGA‑TGGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCg < 1:442010/149‑1 (MQ=255) cTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGA‑TGGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGctct < 2:364084/145‑1 (MQ=255) cTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGA‑TGGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGctct > 1:364084/1‑145 (MQ=255) aTCGGGCCCCGGCGTGTTAACCGAACTGGAAGGCAGCGGCGCACCGCCATGA‑TGGCGCAGGATCAGGTTTTGCTCCGCCAGCTCAATGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGa < 2:136680/149‑1 (MQ=255) aCCGAACTGGAAGGCAGCGCCGCACCGCCATGA‑TGGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAAc > 1:371318/1‑149 (MQ=255) gAAGGCAGCGCCGCACCGCCATGA‑TGGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAAc > 1:699733/1‑140 (MQ=255) gAAGGCAGCGCCGCACCGCCATGA‑TGGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAAc < 2:699733/140‑1 (MQ=255) ggCAGCGCCGCACCGCCCTGA‑TGGCGCAGGATCAGGTTTTGCTCCGCCAGCTCGTTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCACTACCAGCCCTTCGGTACTGACATACCCCGGCTGTTTAACCAGTTctagatt > 1:49541/1‑143 (MQ=255) gCAGCGCCGCACCGGCATGA‑TGGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCAGTTCGataata < 2:683373/149‑1 (MQ=255) gcACCGCCATGA‑TGGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCAGTTCGATAATACCGtttgg > 1:276644/1‑146 (MQ=255) gCCATGA‑TGGCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACAAGTTCGATAATACCGTTGTGACGtt > 1:451890/1‑149 (MQ=255) | GCCGATATCGATAAACAGCGTCGAGCCATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGA‑TGGC‑CAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCAGTTCGATAATACCGTTGTGACGTT > NC_000913_3_hsa_tpiA/3560307‑3560592 |
| 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: ‑ |