| 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 | 100.0% | 125.3 / ‑6.7 | 42 | 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); major base G (15/25); minor base A (1/0); total (17/25) | |||||||||||
| Rejected as polymorphism: E-value score below prediction cutoff. | |||||||||||
| Rejected as polymorphism: Frequency below/above cutoff threshold. | |||||||||||
| Rejected as polymorphism: Variant not supported by required number of reads on each strand. | |||||||||||
GATATCGATAAACAGCGTCGAGCCATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATG‑GC‑CAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCAGTTCGATAATACCGTTGTGACGTTGTGTT > NC_000913_3_hsa_tpiA/3560310‑3560597 | gATATCGATAAACAGCGGCGAGCCATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATG‑Gcgca < 1:602523/149‑4 (MQ=255) cggATAAACAGCGTCGGGCCATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGGGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATG‑GCGCAGGAt < 2:216663/147‑1 (MQ=255) gATAAACAGCGTCGAGCCATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATG‑GCGCAGGAGCa > 2:612272/1‑149 (MQ=255) aTAAACAGCGTCGAGCCATTGGGGATTTGCTCCGCCACTTTGCGGGCAACGCGCGCGTGTTCTTCGGGCTGGGTGGCTTTTCGATGGTGCCACTGCCTGTTGACCGCGCAGGATGGCAGCGAAACACCGCCATGATGTGG‑CAGGAGCAg > 2:180965/1‑149 (MQ=255) tacccaccGTCGCGCCATTGGCGATTTGCTCCGCCCCTTTGCGGGTGCTGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATG‑GCGCAGGATCAgg < 1:21830/142‑1 (MQ=255) tAAACCGCGTCGAGCCAGTGGGGATTTGCTCCGCCATTTTGCGGGCGAGGCCTTCTTTTTCTTCGGCCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATG‑GCGCAGGATCAgg < 2:308714/149‑1 (MQ=255) tAAACAGCGTCGAGCCATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATG‑GCGCAGGATCAgg < 1:400896/149‑1 (MQ=255) gCGTCGAGCCATTGGGGATTTGCTCCACCACTTTGCGGGCGATGCGCTCTTTTTTTTTTTTCTTTGTGGACTTGCGATCGTGCCACGGCGTGTTAACCGGACAGGAAGGCAGCGGCGCACCGCCCTGCTG‑GCGCAGGCTCAGGTTGTGc > 2:405978/1‑149 (MQ=255) tCGAGCCATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATG‑GCGCAGGATCAGGTTTTGCTcc < 1:387516/149‑1 (MQ=255) gcGAGCCCTTGGGGATTTGTTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGACCGTGCCACGGCGTGTGAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATG‑GCGCAGGATCAGGTTTTGCTcc < 2:531771/148‑1 (MQ=255) gAGCCATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCTGTCTGGCTGGCCTTGCGATCGTGCCACGGCGTGTTACCCGAACTGGACGGCAGCGCCGCCCCGCCATGATG‑GCAAAGGATAAGGTTTTGCTcctc > 2:430768/1‑147 (MQ=255) ttGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATG‑GCGCAGGATCAGGTTTTGCTCCGCCAGCTc > 1:414812/1‑149 (MQ=255) ttGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATG‑GCGCAGGATCAGGTTTTGCTCCGCCAGCTc > 1:414793/1‑149 (MQ=255) gggATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATG‑GCGCAGGATCAGGTTTTGCTCCGCCAGCTCAtt < 1:55922/149‑1 (MQ=255) gATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATG‑GCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGa < 2:261720/149‑1 (MQ=255) cGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATG‑GCGCAGGATCAGGTTTTGCTCCGCCAGCTCCTTGAGGTCgcggc > 1:495068/1‑149 (MQ=255) ccatcttGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATG‑GCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGa < 2:277137/144‑1 (MQ=255) ggCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATG‑GCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCg < 2:145871/149‑1 (MQ=255) ggCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCCTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCTGCACCGCCATGATG‑GCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCg < 1:216324/149‑1 (MQ=255) aggcgcTCTTTTGCTCCGGTCGGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATG‑GCGCAGGATCAGGTTTTGCGCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCt < 2:536883/147‑1 (MQ=255) tctTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCAACGGCGGGGTAGCCGAAATGGAAGGCAGCGCAGCACCGCCATGATG‑GCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTGTGCGGGcggacgga > 1:652457/1‑149 (MQ=255) ttttttCGGTCGGGGTGGCCTTGCCATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATG‑GCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGaaa < 2:414812/149‑1 (MQ=255) tttCTTCGGTCTGGGGGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATG‑GCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGaaa < 2:414793/149‑1 (MQ=255) gtgcgtcGGTGCGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATG‑GCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGgagata < 2:66850/144‑3 (MQ=255) tcttcGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATG‑GCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGGCGGAGAAATg > 1:282483/1‑149 (MQ=255) ttcGGTCTGGGTGGCCTTGCGATCGTGCGACGGCGTGGTAACCGAACGGGAAGGCAGCGCCGCACCGCCATTTTG‑GCGCAGGATCAGGGGTTGCTCCGCCAGCTTATTGAGGTCGCGGCGAATAGGTTGCGGGCTGACGGAGGAATGct > 2:355862/1‑149 (MQ=255) ttcGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATG‑GCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGct > 1:36786/1‑149 (MQ=255) gCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATG‑GCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTc < 1:100598/149‑1 (MQ=255) ttGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATG‑GCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGt > 1:633418/1‑149 (MQ=255) aTCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATG‑GCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGa > 2:427918/1‑149 (MQ=255) tCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGGCATGATG‑GCGCAGGATCAGGTTTTGCTCCGCCAGCTCATGGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGAc > 1:589542/1‑149 (MQ=255) ccACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATG‑GCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGAGGGCTGACGGAGAAAAGCTCTCCCAGCCCTTCGGTACTGTCATAAc > 2:622987/1‑149 (MQ=255) aCCGAAGTGGAAGGCGGTGCGGCAGCGCCATGAGG‑GCGCAGGTTCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGGCTTCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAAc < 2:600714/149‑1 (MQ=255) aCCGAACTGGAAGGCAGCGCCGCACCGCCATGATG‑GCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAAc < 2:633137/149‑1 (MQ=255) aCCGAAATGGAAGGCAGGGTCGCACCGCCATGATG‑GCGCAGGATCAGGGTTTGCGCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAAc < 2:303542/149‑1 (MQ=255) cGAACTGGAAGGCAGCGCCGCACCGCCATGATG‑GCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGTCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCa < 1:612272/149‑1 (MQ=255) gAACTGGAAGGCAGCGCCGCACCGCCATGATG‑GCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCAg < 1:573740/149‑1 (MQ=255) cTGGAAGGCAGCGCCGCACCGCCAGGATG‑GCGCAGGATCAGGTTTTGATCCGCCAGCTCATTGAGGTCGGCGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCAGTTc < 2:37143/149‑1 (MQ=255) ggAAGGCAGCGCCGCACCGCCATGATG‑GCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGCCGGAGAAACGCTCTACCAGATCTTCGGTACTGACTTAACCCTGCCGTCTAACCAGTTCGa > 2:133108/1‑149 (MQ=255) gAAGGCAGCGCGGAACGGCCATGATG‑GCGCAGGATCAGGTTTTGCTCCGCCAGGTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCAGTTCGat < 2:328669/149‑1 (MQ=255) gCAGCGCCGCACCGCCATGATG‑GCGCAGGATCAGGTTTTGCGCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCAGTTCGataata < 2:647586/149‑1 (MQ=255) tgatg‑GCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCAGTTCGATAATACCGTTGTGACGTTgtgt > 1:444469/1‑149 (MQ=255) gatg‑GCGCAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCAGTTCGATAATACCGTTGTGACGTTGtgtt < 1:236277/149‑1 (MQ=255) | GATATCGATAAACAGCGTCGAGCCATTGGGGATTTGCTCCGCCACTTTGCGGGCGATGCGCTCTTTTTCTTCGGTCTGGGTGGCCTTGCGATCGTGCCACGGCGTGTTAACCGAACTGGAAGGCAGCGCCGCACCGCCATGATG‑GC‑CAGGATCAGGTTTTGCTCCGCCAGCTCATTGAGGTCGCGGCGAATAGTCTGCGGGCTGACGGAGAAATGCTCTACCAGCTCTTCGGTACTGACATAACCCTGCTGTTTAACCAGTTCGATAATACCGTTGTGACGTTGTGTT > NC_000913_3_hsa_tpiA/3560310‑3560597 |
| 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: ‑ |