| 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 | 91.9% | 98.5 / 2.0 | 37 | 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 . (1/2); new base G (16/17); total (18/19) | |||||||||||
| 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: Variant not supported by required number of reads on each strand. | |||||||||||
GCCGATATCGATAAACAGCGTCGAGCCATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGT‑GGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCG‑CCATG‑ATGGC‑C‑AGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCAGTTCGATAATACCGTTGTGACGTTGTGT > NC_000913_3_hsa_tpiA/3560307‑3560596 | gCCGATATCGATAAACAGCGTCGAGGCAGTGGGGATTTGCTCCGCCACTTTGCGGGCGCTGGGCTCTTTTTCTTCTGTCTGGGG‑GGCCTTGTGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCG‑CCATG‑ATGGc < 2:235882/149‑1 (MQ=255) tatCGATAAACAGCGTCGAGCCATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGT‑GGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCG‑CCATG‑ATGGc‑ccagg > 2:555706/1‑145 (MQ=255) tCGATAAACAGCGTCGAGCCATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGT‑GGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCG‑CCATG‑ATGGCGC‑AGGAt < 1:44260/149‑1 (MQ=255) cGACAAACAGCGTCGGGCCTTTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGT‑GGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCCCCGCACCG‑CCATG‑ATGGCGC‑AGGATc < 2:540001/149‑1 (MQ=255) aTAAACAGCGTCGAGCCATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGT‑GGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGTAAGGCAGCGCCGCACCG‑CCATG‑ATGGCGC‑AGGATCAg > 1:134588/1‑149 (MQ=255) aCAGGGTCGCGCCATTGGGGGTTTGCTCCGCCACTTTGCGGGCGATGCGCCCTTTTTCTTCGGTCTGGGT‑GGCCTGGCGATCGTGCCACGGAGTGTTAACCGAACTGGAAGGCAGCGCCGCACCG‑CCATG‑ATGGCGC‑AGGATCAGGttt < 2:294589/149‑1 (MQ=255) aCAGCGTCGAGCCATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGT‑GGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCG‑CCATG‑ATGGCGC‑AGGATCAGGttt > 2:432691/1‑149 (MQ=255) gTCGAGCCATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGT‑GGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCG‑CCATG‑ATGGCGC‑AGGATCAGGTTTTGCTc > 1:703647/1‑149 (MQ=255) gAGCCATGGGGGATGTGGTCCGCCAGTTGGCGGGCGAGGCGCTCTTTTGCTTCGGTCTGGGT‑GGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCG‑CCATG‑ATGGCGC‑AGGATCAGGTTTTGCTCCGc < 2:648104/149‑1 (MQ=255) gCCATTGGGGATTTGCTCCGCGACTTTGCGGGCGATGCGCTCTTTGTCTTTGTTCTGGGT‑GGCCGTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCCGCGCCGCACCG‑CCATGCAGGTC‑C‑CGCATCAGGATTTGGTCccccc > 2:108478/1‑148 (MQ=255) ccATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGT‑GGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCG‑CCATG‑ATGGCGC‑AGGATCAGGTTTTGCTCCGCCAg > 1:298581/1‑149 (MQ=255) gggATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGT‑GGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCG‑CCATG‑ATGGCGC‑AGGATCAGGTTTTGCTCCGCCAGCTCAtt < 1:458354/149‑1 (MQ=255) gggATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGT‑GGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCG‑CCATG‑ATGGCGC‑AGGATCAGGTTTTGCTCCGCCAGCTCAtt > 1:500287/1‑149 (MQ=255) gATGTGCTCGGCCACTTTGTGGGCGATGCGCTTTTTTTGTTCGGTCTGGGT‑GGCCTTGCGCTCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCG‑CCATG‑ATGGCGC‑AGGATCAGGTTTTGCTCCGCCAGCTCATTGa < 2:297022/149‑1 (MQ=255) tCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGT‑GGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCG‑CCATG‑ATGGCGC‑AGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTcgcg < 1:443534/149‑1 (MQ=255) gCCACTTTGCGGGCGATGCGCTCTTTTTTTTTTTTTTTTTTAGGCCTAGAGAGCGTGCCACAGTGTGTTATCCGAACTGGACGGCAGCCCCGCACCG‑CCACG‑ATCACAC‑ACATTCAGGTTTAGCTCCGCCCGCTCTTTGAGCTctctcc > 2:485767/1‑144 (MQ=255) aCTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGT‑GGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCG‑CCATG‑ATGGCGC‑AGGATc < 1:231119/111‑1 (MQ=255) aCTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGT‑GGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCG‑CCATG‑ATGGCGC‑AGGATc > 2:231119/1‑111 (MQ=255) aCTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGT‑GGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCG‑CCATG‑ATGGCGC‑AGGATCAGGTTTTGGTCCGCCAGCTCATTGAGGTCGCGGCCAAt > 2:467526/1‑149 (MQ=255) gggCGATGCGCTCTTTTTCTTCGGTCTGGGG‑GGCCTTGCGATCGTGCCACGGCGAGTTAACCGACCTGGAAGGCAACGCCGCACCG‑CGATG‑ATGGCGC‑AGGATCAGGTTTTGCTCGGCCAGCGCCTTGAGGTCGCGGGGAATAGTCtca > 1:128728/1‑147 (MQ=255) gCGATGCGCTCTTTTTCTTCGGTCTGGGT‑GGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCG‑CCATG‑ATGGCGC‑AGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCgg < 1:417781/149‑1 (MQ=255) tctTTTTCTTCGGTCTGGGT‑GGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCG‑CCATG‑ATGGCGC‑AGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGga > 1:427795/1‑149 (MQ=255) tctTTTTCTTCGGTCTGGGT‑GGCCTTGCGATCGTGCCACGCCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCG‑CCATG‑ATGGCGC‑AGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGga < 1:115088/149‑1 (MQ=255) ctTTTTCTTCGGTCTGGGT‑GGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCG‑CCATG‑ATGGCGC‑AGGATCAGGTTTTGCTGCGCCAGCGCATGGAGGTCGCGGCGAATAGTCTGCGGGCTGACGgag > 1:499377/1‑149 (MQ=255) tttttCTGCGGTCTGGGT‑GGCCTTGCGATCGTGCCACGGCATGTTAACCGAACTGGAAGGCAGCGCCGCACCG‑CCATG‑GTGGCGC‑AGGGTTAGGTTTTGCTCCGCCAGCACATTGAGGTCGCGGCGAATAGTCTGAGGGCTGAGGggga > 2:375584/1‑149 (MQ=255) ttctgtggTCTGGGT‑TGCCTGGCGATCGTGCCATGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCG‑CCATG‑ATGGCGC‑AGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAAt < 2:109049/143‑1 (MQ=255) ttcGGTCTGGGT‑GGCCTTGCGATCGTGAAACAGAGTGTGAACCGAACTGGAAGGCAGCGCCGCACGG‑CCATA‑AAGGCGC‑AGGATGAGGTGTTGCACCGCCAGCTCATTGGGGTCGCAGAGAATAGTCTGCGGGCTAACGGAGAAATGcg > 2:149366/1‑148 (MQ=255) gtcGGTCTGGGT‑GGCGTTGGGACGGTGCCGCGGCGGGGTAACCGGACTGGTAGGCAGGGCCGCACCG‑CCATG‑ATGGCGG‑AGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACAGAGTAATGct < 2:452697/148‑1 (MQ=255) gggT‑GGCCTTGGGATCGGGCTACGGCGTGTGAACGGATCTGGAAGGCCGCGCGGCATAGACCGTC‑TGTGG‑C‑AGGATCATGTTTTGCTCCGCCAGTTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAAGGCTCTACCAGc < 1:349959/149‑1 (MQ=255) ccACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCG‑CCATG‑ATGGCGC‑AGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAAc > 1:660900/1‑149 (MQ=255) acagAACTGGAAGGGAGGGGTGCACCG‑CCAGG‑GTGGCGG‑AGGAGCAGGTTTTGCTCCGCCAGCTAATTGAGGTCGGGGCGAATAGTCGGGGGGCTGACGGAGAAAGGCTCTACCAGCTGTTCGGTACTGACATAACCCTGCTGTTTAAc < 2:39346/146‑1 (MQ=255) aCTGGAAGGCAGCGCCGCACCG‑CCATG‑ATGGCGC‑AGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCAGtt < 1:679799/149‑1 (MQ=255) tGGAAGGCAGCGCCGCACCG‑CCATG‑ATGGCGC‑AGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTAATGACATAAGCCTGCTGTTTAACCAGTTCg > 1:313212/1‑149 (MQ=255) ggAAGGCAGCGCAGCTCCG‑CTATG‑ATGGCGC‑AGGATCAGGTTTTGCTCCGCCAGCTCATGGAGGTCGCGGCGAATAGGCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCAGTTCGa < 1:47373/149‑1 (MQ=255) gCAGCGCCGCACCG‑CCATG‑ATGGCGC‑AGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCAGTTCGataata > 1:545488/1‑149 (MQ=255) gccgcACCG‑CGAGG‑ATGGC‑CGAGGAGCAGGTTTGGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCAGTTCGATAATACCGtt < 2:560496/149‑1 (MQ=255) gcACCG‑CCATG‑ATGGCGC‑AGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCAGTTCGATAATACCGTtgtg > 1:411123/1‑149 (MQ=255) gcgatg‑atgGCGC‑AGGATCAGGTTGTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCAGTTCGATAATACCGTTGTGACGtt < 1:189259/146‑1 (MQ=255) tg‑atgGCGC‑AGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCAGTTCGATAATACCGTTGTGACGTTgtgt < 1:707104/149‑1 (MQ=255) | GCCGATATCGATAAACAGCGTCGAGCCATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGT‑GGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCG‑CCATG‑ATGGC‑C‑AGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCAGTTCGATAATACCGTTGTGACGTTGTGT > NC_000913_3_hsa_tpiA/3560307‑3560596 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 8 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 27 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |