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 | 98.4% | 140.9 / ‑5.9 | 49 | A186E (GCA→GAA) | bglJ | bgl operon transcriptional activator |
Reads supporting (aligned to +/- strand): ref base C (0/0); major base A (17/31); minor base G (1/0); total (18/31) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 3.67e-01 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.47e-01 | |||||||||||
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. |
CCGACTGAACAATCAGTGGTACATTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGCACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCATCCCTATTAATCCGCATGATGC > NC_000913_3_hsa_tpiA/4604558‑4604831 | ccgatggAACAATCAGTGGTACATTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAAt < 1:263461/143‑1 (MQ=255) gacTGAACAATCAGTGGTACATTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTCAACGCAATCTCAAAACGATCCGTGAAGATAAAttt > 1:161977/1‑149 (MQ=255) cTGAACAATCAGTGGTACATTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTaa < 1:301895/149‑1 (MQ=255) cTGAACAACAAGTGGTACATTAACCAAAGCGGGACGTTAAGTCCGAAGGAGAGAGAAATATTGCGCTTTATGTCGCGTAGCTAATCAATGACACAAATTGCCAAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTaa < 2:109078/149‑1 (MQ=255) cgAACAATCAGGGGTACATTAACCAAAGCCGGACGTTAAGCCCGACTGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAAt < 1:191267/148‑1 (MQ=255) aaCAATCAGTGGTACATTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAACTTTAAtgt > 1:589843/1‑149 (MQ=255) aaCAATCAGTGGTACATTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAAtgt > 1:589910/1‑149 (MQ=255) cAATAAGTGGTAAATTAACCAAAGCCGGACGCTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGa < 1:5256/149‑1 (MQ=255) aGTGGTACATTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCg > 1:359188/1‑149 (MQ=255) gggaCATTAACCAAAGCCGGACGTGAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGaaa < 1:317136/146‑1 (MQ=255) gTACATTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAAc < 2:435602/149‑1 (MQ=255) aCATTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTg < 1:470737/149‑1 (MQ=255) aTTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTggg < 1:165915/149‑1 (MQ=255) aTTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGAACCGTGAACATAAATTTAATGTGATGTCGAAACTggg > 1:313288/1‑149 (MQ=255) ttAACCAAAGCCGGACGTTAAGCCCGACGAAGAGAGAAATATTGCGCTTAATGTCGCGTGGCTACTCAATGACAAAAATTGCCGATCAGCTTAAACGCAACATCAAAACGATCCGTGAACATAAATTTAATCTGCTGTCGAAGCTggac > 2:559238/1‑147 (MQ=255) aaCCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGACACTGGGCGt > 1:23752/1‑149 (MQ=255) aaCCAAAGCCGGACGTAAACCCAGACGGAGAGAGAAAAATGGCGGTTAAGGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAACCGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGt < 2:371519/149‑1 (MQ=255) ccAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCa < 2:541398/149‑1 (MQ=255) ccAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCATAACGCCGCGTGCACCCTAACAGAAAAAAAAAAACGAGCAGCTTAAACGCAATATCAAAACGATCCCGTAACATAAATTTAACTGGATGTCGAAACTGTGCATCa > 2:515854/1‑149 (MQ=255) cGGACGTTAAGCCCGAAGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGCCCCGTATGGCCGAGCAGCTTAAACGAAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTgg > 1:481361/1‑148 (MQ=255) ggtAAGCTCGACGGAGAGAGAAATATTGCTCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAg < 1:124335/147‑1 (MQ=255) ttAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGTTTCTCACTACCACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAgg < 1:579445/149‑1 (MQ=255) cccGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGgttgt < 1:263524/149‑1 (MQ=255) ggAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAgg > 1:517509/1‑149 (MQ=255) ggAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGATTAAACACAATATCAAAACGATCCGTGAACATAAATTTAATGTGATATAGAAAAAGGGAGTAGATTATGCAACAAGGTTGTTGGAga > 2:138820/1‑148 (MQ=255) agaAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTAGAAACTGGGCGTCAGTTCTGACGGAGGGGTGTTGGAGGCCGCAg > 2:247582/1‑149 (MQ=255) atTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGACGCGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTc < 1:423286/149‑1 (MQ=255) ttGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTTACGCAGGGTTGTTGGAGGCCGCCGACATTCt > 2:458561/1‑149 (MQ=255) gttttATGTCGCGCGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTta < 1:247582/147‑1 (MQ=255) aTGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCCGGGTTGTTGTAGGCCGCAGATATTATGTtatgtat > 2:563646/1‑149 (MQ=255) tCGGGTGGCTACTCAATGACACAAATTGTCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTGATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCg < 2:12637/149‑1 (MQ=255) tGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCAtt < 1:426116/149‑1 (MQ=255) cTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGGACATAAATTTAATGTGATGTGGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCGGTAGAGATTCTGTTCTGTATAGGGCATTGTGaca > 2:30236/1‑147 (MQ=255) aaTGACAAAAAGTGCCGAGACGCTTAATCGCAATATGAAAACGATCCGTTAACATAAATTGAATGTCATGTCGAAACTGGGGGTTAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTTTTATGTATGCGGCATTGCGAAACaa < 2:560392/149‑1 (MQ=255) tGACACAAATTGCCGGACTGGTTAAACGCAATATCAAAACGATCCGGGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGt < 2:559040/149‑1 (MQ=255) agACACAACTTGCCGGGCAGCTTAAACTCAATATCACAAGGATCGTTGAACATAAATTTATTTTGATGTCGAAATTGGGCGTTAGTTCTGACTCAGGTTTGTTGGAGTCCGCAGATATTCTGTTATGTATGGGGCATTGCGAAACAAGt < 2:137416/148‑1 (MQ=255) ctcaAAGTGCGGAGCAGCTTTAACGCAATATCAAAACGATGCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGGCGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAAt < 1:489789/147‑1 (MQ=255) gcaAATTGGCGAGCGGGTTAAACGCAATATCAAGACGGTCCGTGAAGATAAATTTAATGTGATGTCGAAACTGGGCGTCAGGTCTGTCGCAGGGTTGTTGGAGGGCGTAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAAtg < 2:188619/148‑1 (MQ=255) acaAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAAtg > 1:459049/1‑149 (MQ=255) aaatGCCGACAAGCTAAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATgtgt < 1:326321/146‑1 (MQ=255) ctaacatcTTAAACAAAATATCAAAATGTACCGTGAACATAAATTTAATGTGATTTCGAAACTGGTCGTCATTTCTGACGCAGGGTTGTTGGAGACTGCAGATATTCTGTTATGTATGCGCCATTTCTAAACAACTAATGTGTTGCATc < 2:210516/142‑1 (MQ=255) cagtTTAAAAGCAAAATCAAAACGATCCGTGAACGTAAATGTGCAGTACAGTAAATGGCTGTCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCATCCCTa < 1:481211/149‑1 (MQ=255) tAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCATCCCTATTAAt < 2:517509/149‑1 (MQ=255) tAAACGAAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGTCGTCAGTTCTGACGCAGGGTTGGTGGAGGCCGCAGATATTCTGTTCTGTCTGCCCCTTTGCGAAACAAGTAATGTGTTGCATCCCTATTAAt < 2:567744/149‑1 (MQ=255) aaaCGAAATATGAAAACGATCAGTGAACAAAAATTAAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGTGGCTGCAGTTATTTTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCATCCCTATTAATc < 1:171822/149‑1 (MQ=255) aaCGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCATCCCTATTAATcc < 1:392247/149‑1 (MQ=255) aCGCAATATCAAAACGATCCGTGAACATAAGTTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCATCCCTATTAATCCg > 2:15061/1‑149 (MQ=255) gCAACATCAAGACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGACATTAAGTTATTCAGGCGGCATTGCGAAACAAGTAATGTGTTGCATCCCTATTAATCCGCa < 1:327080/149‑1 (MQ=255) tCAACACGATCCGTGAACATAAATTTAAGGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGGTGTTGGAGGCCGCAGATATTCTGCTATGTATGCGGCATTCCGAAACAAGTAATGTGTTGCATCCCTATTAATCCGCAtgctgc > 2:499111/1‑149 (MQ=255) | CCGACTGAACAATCAGTGGTACATTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGCACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCATCCCTATTAATCCGCATGATGC > NC_000913_3_hsa_tpiA/4604558‑4604831 |
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: ‑ |