Predicted mutation | |||||||
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evidence | seq id | position | mutation | freq | annotation | gene | description |
RA | NC_000913_3_hsa_tpiA | 4,604,698 | C→A | 100% | A186E (GCA→GAA) | bglJ → | bgl operon transcriptional activator |
Read alignment evidence... | |||||||||||
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seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
* | NC_000913_3_hsa_tpiA | 4,604,698 | 0 | C | A | 100.0% | 124.0 / ‑6.7 | 48 | A186E (GCA→GAA) | bglJ | bgl operon transcriptional activator |
Reads supporting (aligned to +/- strand): ref base C (0/0); major base A (25/21); minor base G (2/0); total (27/21) | |||||||||||
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. |
GACCGACCGACTGAACAATCAGTGGTACATTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGCACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCATCCCTATTAATCCGCATGATGCCGGGTTTACT > NC_000913_3_hsa_tpiA/4604552‑4604841 | ctacgagcggcTGAAGAATGAGTGGAACATTAACCAAAGCCAGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGTGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGaac < 2:326012/146‑1 (MQ=255) gacTGAACAATCAGTGGTACATTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGCGAACATAAAttt > 1:67867/1‑149 (MQ=255) gacTGAACAATCAGTGGTACATTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCGTTATGTCGCGTGGCTACTCAATGACACAAAATACCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAAttt > 1:122554/1‑149 (MQ=255) tGAACAATCAGTGGTACATTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAAt > 1:367933/1‑149 (MQ=255) aaCAATCAGTGGTACATTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAAtgt > 2:345661/1‑149 (MQ=255) aaCAATCAGTGGTACATTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCACTTGATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTACACGCAATATCAACACGATCCGTGGACATAAACTTAAtac > 2:253076/1‑147 (MQ=255) aaTCAGTGGTACATTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACCAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGAt > 2:641245/1‑149 (MQ=255) aaTCAGTGGTACATTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAACTTGCCGAGCAGCTTAAACGCAATCGCAAAACAATCCGGAGACATAAATTTAATGTGAt > 2:204750/1‑149 (MQ=255) aTCAGTGGTACATTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGACCAGCTTAAAAGCAATATCAAAACAATCCGTGACCATAAATTTAATGTGagt > 2:316077/1‑147 (MQ=255) tCAGTGGTACATTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGGGCAGCTTAAACGCAATATCAAAACGATCCGTAAACATAATTTTAAtcttgtgc > 2:154033/1‑142 (MQ=255) tGGTACATTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAAAGCAATATCAAAACGATCGGGGAACAAAAAATTAATGTGATGTCgga > 2:299209/1‑147 (MQ=255) aTTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGGTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTggg < 1:440746/149‑1 (MQ=255) cGGACGATAAGCCCGACGGAGAGAAAAATAGTGCGCTTTACGACGCGTGGCTACTCAATGACACAAATTCACGAGCAGCTTAAACCCAATATCAAAACGATCCGAGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGa < 1:561786/149‑1 (MQ=255) aCGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCGGACGc > 1:592839/1‑149 (MQ=255) gTTAAGCCCGGCGGTGAGAGAAATATGGCGTTTTATGTCGCGTGGCTACTCACTGACATAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAg < 2:255638/149‑1 (MQ=255) aGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCGGTGAACATAAATTTAATGTAATGTCGAAACTGGGCGTCAGTGCTGACGCAGGgtt > 1:272663/1‑149 (MQ=255) cccGACAGAAAGAGAAACAATGCGCCATATGTCGCCTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGCCGAAACTGGGCGTCAGTTCTGACGCAGGgttgt < 1:35958/149‑1 (MQ=255) atggagggagAAATATTGTGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGa < 2:40169/147‑1 (MQ=255) agagaAACATTGCCCGTTACGCCGCGTGGCTACCCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGc < 1:17180/149‑1 (MQ=255) agaAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTAGACGTCAGTTGTGACGCCGGGTGGTTGGAGGCCGCAg > 1:307211/1‑149 (MQ=255) gaAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTAATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGa > 2:178210/1‑149 (MQ=255) aaaTATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGATGCCGCAGat > 1:413216/1‑149 (MQ=255) tatTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAg < 2:275462/126‑1 (MQ=255) tatTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAg > 1:275462/1‑126 (MQ=255) ttGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATAACAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGACGTCAGTTCTGACGCAGGGTTGTTGGGGCCCGCAGATATTca > 2:8328/1‑148 (MQ=255) cgcTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACTAAATATCAAAACGATCCTTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGtt < 1:609920/149‑1 (MQ=255) cTTTATGTCGCGTGGCTACTCAATGAAACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTtat < 1:110108/149‑1 (MQ=255) tCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAACAGAAATAGCAAAACGATCCGTGAACTTAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCg < 1:313056/149‑1 (MQ=255) cgcgTGGCTACTCAATGACACAAATTGCCGAGCAGCGTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTCCTGACGCAGGGTTGTTGGAGGCCGCAGAGAGTCTGTTATGTATGCgg > 2:153138/1‑149 (MQ=255) gcgTGGCTACTCAATGACACAAATTACAGACAAGCTTAAACGAAATATCAAAACGATCCATGAACATAAATTTAATGTGAGGTCTAAAATTGGCCTCAGTTCTTACGCAGGATGGTTGGAGGCCGCAGTTGTTCTGGTGTGTGTGcaga > 2:211407/1‑146 (MQ=255) gcgGGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAGAACGAGCCGTGAACATAAATTTAATGTGATTTCGAAACTGGGCGTCAGATCTGACGCAGCGTGTGTGAAGCACGCAGATGATCTGTTATGTATGAGGc > 2:340184/1‑149 (MQ=255) tGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTTTTTTATTTATGCGGCAtt > 2:292275/1‑149 (MQ=255) ttcaagtacacAAATGTCCGAGCATCTTAAACGCAATATCAAATCGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGGCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGaaa < 1:408207/142‑1 (MQ=255) tCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGGTGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAAc > 1:71343/1‑149 (MQ=255) agtGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACaa < 1:368492/147‑1 (MQ=255) aaTGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACaa < 2:32864/149‑1 (MQ=255) aaTGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTAGGTATGCGGCATTGCGAAACaa > 1:336680/1‑149 (MQ=255) caAATTGCCGAGCAGCTTAAAAGCAATAGCAAAACGATCCGTGAACCTAAATTTAATGTGACGTCGAAACTGGGCGTAAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAAtgt < 2:179580/149‑1 (MQ=255) agtGCGGAGCAGGTGAAACGCAATAACAAAAGGATCGGTGAGCATAAATTTAGTGTTATGTCGCAACGGGGTGTCAGTCCCGACGCAGGGTTGTTGGAGGCGGCAGATATTCTGTTATGTATGAGGCAGTGCGAAACAAGTAATGTGtt < 2:33935/147‑1 (MQ=255) cGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTGATGTGTTGCCTc > 1:30687/1‑149 (MQ=255) agcagcTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGCACCTAACTGAAGTAGGCGGCATTGCGAAACAAGTAATGTGTTGCATccc > 1:617709/1‑149 (MQ=255) cagcTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCATCCCTa < 1:345661/149‑1 (MQ=255) agcTTAAACGCAAGAACAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGGTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCATCCCTAt < 1:214691/149‑1 (MQ=255) cTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATGCTGTTATGTATGCGGCATTGAGAAACAAGTAATGTGTTGCATCCCTATTa > 1:363312/1‑149 (MQ=255) tAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCATCCCTATTAAt > 1:452856/1‑149 (MQ=255) cAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCATCCCTATTAATCCGCat < 1:643826/149‑1 (MQ=255) aaaTATCAAAACGAGCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCATCCCTATTAATCCGCat < 1:507425/148‑1 (MQ=255) aTCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCATCCCTATTAATCCGCATGATGCCGGGTTTa < 1:363981/149‑1 (MQ=255) ccGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCATCCCTATTAATCCGCATGATGCCGGGTTTACt < 2:166842/149‑1 (MQ=255) | GACCGACCGACTGAACAATCAGTGGTACATTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGCACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCATCCCTATTAATCCGCATGATGCCGGGTTTACT > NC_000913_3_hsa_tpiA/4604552‑4604841 |
Alignment Legend |
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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: ‑ |