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% | 131.3 / ‑6.7 | 44 | A186E (GCA→GAA) | bglJ | bgl operon transcriptional activator |
Reads supporting (aligned to +/- strand): ref base C (0/1); new base A (24/18); total (25/19) | |||||||||||
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. |
ACCGACTGAACAATCAGTGGTACATTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGCACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCATCCCTATTAATCCGCATGATGCCGGGTT > NC_000913_3_hsa_tpiA/4604557‑4604837 | accgacTGAACAATCAGTGGTACATTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGCTCCGTGAACATaaa > 1:415687/1‑149 (MQ=255) ccgatagAACAATCAGTGTGACATCATCCACAGCCGGACGTGAAGCCCGACGGAGAGAGGAGTATTGCGCTTTATGCCGCGTGTCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGTAATATCAAACCTAGCCGTGAACATAAAt < 2:407726/143‑1 (MQ=255) acTGAACAATCAGTGGTACATTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCCCTTTATGTCGCGTGGCTATTACCCCTCAACAAGCCCCTAGCATCTTAAACGCAATATCAAAACGATCCGGGAACATAAATTTa > 2:699613/1‑149 (MQ=255) cTGAACAATCAGTGGTACATTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTaa < 1:675574/149‑1 (MQ=255) tGAACAATCAGTGGTACATTAACCAAAGCCGGACGTTAAGCCCGACGGAGCGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAACCGCAATATCAAAACGATCCGTGACCATAAATTTAAt > 2:601935/1‑149 (MQ=255) aaCAATCAGTGGTACATTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGGTTAAACGCAATATCAAAACGATCCGTGGACATAAATTTAAtgt > 1:122703/1‑149 (MQ=255) aTTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTggg > 1:368396/1‑149 (MQ=255) ccAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCa < 1:121668/149‑1 (MQ=255) aCGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGCAACTGGGCGTCAGTTCTGACGc > 1:176317/1‑149 (MQ=255) gTTAAGCCCCACAGAGGGAGAAATATTGCGCTCTATGTCGGGTGGGTACTTAATGACATAGATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAg < 2:79182/149‑1 (MQ=255) cccGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGgttgt > 1:517664/1‑149 (MQ=255) gagatatTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGa < 1:431830/146‑1 (MQ=255) aaaTATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATTTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGTTTGTTGGAGGCCGCAGat > 2:106392/1‑149 (MQ=255) atTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTc < 1:570788/149‑1 (MQ=255) atTGCGCTTTATGTCGCGTGGCTACTCAATCCCTGTAAGATCGGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTc > 1:539633/1‑149 (MQ=255) ttGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCt > 1:579226/1‑149 (MQ=255) tGCGCTTTATGTAGCGGTGCTACGCAACGACAAAAATTGCCAAGCAGCTTAAACGAAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTg < 2:100154/149‑1 (MQ=255) gcTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTta < 2:374832/149‑1 (MQ=255) tttATGTCGCGTGGCTATTCAATGACATAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTtatg < 1:687726/149‑1 (MQ=255) ttATGTCGCGTGGCTACTCAATGCCACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTtatgt < 1:614817/149‑1 (MQ=255) tATGTTGTGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTtatgta < 2:571406/149‑1 (MQ=255) tGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTtatgtatg > 1:462048/1‑149 (MQ=255) tGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGAAGATATTCTGTtatgtatg > 2:423269/1‑149 (MQ=255) ggCTAGTGAATGAAATATAGTGCGGGGCAGCTGATAAGCAATAGCAAAACGATCTTTTCACATAAATTTAATGTGATGTCGAAATTGGGCGTCAGTCCTTACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTg < 2:72656/149‑1 (MQ=255) cTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCg < 2:647126/149‑1 (MQ=255) cTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGaaa > 2:538247/1‑149 (MQ=255) tCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAAc > 1:409724/1‑149 (MQ=255) aaTGACACAAATTGCCGAGCAGCTTAAACACAATAACAAAACGATCCGTGAACATAAATGTAATTGAATGGCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGAAGGCCGCAGGTATTTTGTTATGTATGCGCCATTGctgaacca > 2:248653/1‑142 (MQ=255) gACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTa > 1:276009/1‑149 (MQ=255) cacaAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAAt > 1:210903/1‑149 (MQ=255) aaaTTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTgg < 2:435171/72‑1 (MQ=255) aaaTTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTgg > 1:435171/1‑72 (MQ=255) aTTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGtt < 1:538247/149‑1 (MQ=255) ccGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCAt > 1:518287/1‑149 (MQ=255) cGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCATc < 2:462048/149‑1 (MQ=255) gcTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCATCCCTAtt > 2:269118/1‑149 (MQ=255) ttAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCATCCCTCTTaa > 2:39793/1‑149 (MQ=255) aaaCGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTCTGTATGGGGGATTGCGAAACAAGTAATGTGTTGCATCCCTATTAATc > 1:18475/1‑149 (MQ=255) aaCGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTGTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGAGGCATTGCGAAACAAGTAAAGTATTGCATCCCTATTAATcc > 2:52380/1‑149 (MQ=255) aCGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGAAGGGTTGTTGGGGGCCGCAGATATTCTGTTATGTATCCGGCATTGCGAAACAAGTACTGGGTTGCATCGCTATTAATCCg > 1:111692/1‑149 (MQ=255) cAATAGAAAAACGATCCGTTAACACAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGATGCCGGGTTGGTGTAGGCGGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCATCCCTATTAATCCGCat < 2:262617/149‑1 (MQ=255) cAAAACGACCCGTGAACACAAATTTAATGTGATGGCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCATCCCTATTAATCCGCATGATGcc < 1:638300/149‑1 (MQ=255) aaaCGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCATCCCTATTAATCCGCATGATGTCgg > 1:3064/1‑149 (MQ=255) cGATGCGTGAACGTAAATTGAGTGAGATGTTTAAACTGGTCGTTAGTTGGGGCGCAGGGGTGTTGGAGGCCGCAGATATTCTGTGATGTATGCGTCATTGCGATACAAGTAAGGTGTTGCATCCCTATTAATCCGCATGAGGCCGGGtt < 2:148110/149‑1 (MQ=255) | ACCGACTGAACAATCAGTGGTACATTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGCACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCATCCCTATTAATCCGCATGATGCCGGGTT > NC_000913_3_hsa_tpiA/4604557‑4604837 |
Alignment Legend |
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Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 13 ≤ ATCG/ATCG < 27 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |