| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | NC_000913_3_hsa_tpiA | 1,726,165 | A→G | 33.0% | Y48C (TAC→TGC) | nemR → | transcriptional repressor for the nemRA‑gloA operon, quinone‑, glyoxal‑, and HOCl‑activated |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | NC_000913_3_hsa_tpiA | 1,726,165 | 0 | A | G | 33.0% | 28.0 / 28.2 | 34 | Y48C (TAC→TGC) | nemR | transcriptional repressor for the nemRA‑gloA operon, quinone‑, glyoxal‑, and HOCl‑activated |
| Reads supporting (aligned to +/- strand): ref base A (14/8); new base G (4/7); total (19/15) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 1.63e-01 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 2.27e-01 | |||||||||||
GCATGAACAAACACACCGAACATGATACTCGCGAACATCTCCTGGCGACGGGCGAGCAACTTTGCCTGCAACGTGGATTCACCGGGATGGGGCTAAGCGAATTACTAAAAACCGCTGAAGTGCCGAAAGGGTCCTTCTATCACTACTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCTTGAGCGTCATTACGCCGCATATCACCAGCGACTGACTGAGTTGCTGCAATCCGGCGAAGGTAACTACCGCGACCGCATACTGGCTTATTACCAGCAAACACTGAACCAGTTT > NC_000913_3_hsa_tpiA/1726021‑1726313 | gCATGAACAAACACACCGAACATGATACTCGCGAACATCTCCTGGCGACGGGCGAGCAACTTTGCCTGCAACGTGGATTCACCGGGATGGGGCTAAGCGAATTACTAAAAACCGCTGAAGTGCCGAAAGGGTCCTTCTATCACTCCTTTc > 2:102098/1‑150 (MQ=255)gCATGAACAAACACACCGAACATGATACTCGCGAACATCTCCTGGCGACGGGCGAGCAACTTTGCCTGCAACGTGGATTCACCGGGATGGGGCTAAGCGAATTACTAAAAACCGCTGAAGTGCCGAAAGGGTCCTTCTATCACTACTTTc > 4:267396/1‑150 (MQ=255) cATGAACAAACACACCGAACATGATACTCGCGAACATCTCCTGGCGACGGGCGAGCAACTTTGCCTGCAACGTGGATTCACCGGGATGGGGCTAAGCGAATTACTAAAAACCGCTGAAGTGCCGAAAGGGTCCTTCTATCACTGCTTTCg < 1:326011/150‑1 (MQ=255) gAACAAACACACCGAACATGATACTCGCGAACATCTCCTGGCGACGGGCGAGCAACTTTGCCTGCAACGTGGATTCACCGGGATGGGGCTAAGCGAATTACTAAAAACCTCTGAAGTGCCGAAAGGGTCCTTCTATCACTACTTTCGctc < 2:365203/150‑1 (MQ=255) acacacCGAACATGATACTCGCGAACATCTCCTGGCGACGGGCGAGCAACTTTGCCTGCAACGTGGATTCACCGGGATGGGGCTAAGCGAATTACTAAAAACCGCTGAAGTGCCGAAAGGGTCCTTCTATCACTACTTTCGCTCTAaaga > 3:345427/1‑150 (MQ=255) cacacCGAACATGATCCTCCGGAACATCTCCTGGCGACGGGCGAGCAACTTTGCCTGCAACGTGGATTCACCGGGATGGGGCTAAGCGAATTACTAAAAACCGCTGAAGTGCCGAAAGGGTCCTTCTATCACTGCTTTCGCTCTAaagaa < 3:292901/150‑1 (MQ=255) accATGTTACTCGCGAACATCTCCTGGCGGCGGGCGAGCAACTTTGCCTGCGGCGTGGATTCACCGGGATGGGGCTAAGCGAATTACTAAAAACCGCTGAAGTGCCGAAAGGGTCCTTCTATCACTGCTTTCGCTCTAAAGAAGCGTTTg < 4:126568/148‑1 (MQ=255) aaCATGATACTCGCGAACATCTCCTGGCGACGGGCGAGCAACTTTGCCTGCAACGTGGATTCACCGGGATGGGGCTAAGCGAATTACTAAAAACCGCTGAAGTGCCGAAAGGGTCCTTCTATCACTACTTTCGCTCTAAAGAAGCGTTTg < 1:95281/150‑1 (MQ=255) aaCATGATACTCGCGAACATCTCCTGGCGACGGGCGAGCAACTTTGCCTGCAACGTGGATTCACCGGGATGGGGCTAAGCGAATTACTAAAAACCGCTGAAGTGCCGAAAGGGTCCTTCTATCACTACTTTCGCTCTAAAGAAGCGTTTg < 3:143376/150‑1 (MQ=255) aCTCGCGAACATCTCCTGGCGACGGGCGAGCAACTTTGCCTGCAACGTGGATTCACCGGGATGGGGCTAAGCGAATTACTAAAAACCGCTGAAGTGCCGAAAGGGTCCTTCTATCACTGCTTTCGCTCTAAAGAAGCGTTTGGCGTTGcc < 1:562844/150‑1 (MQ=255) tCGCGAACATCTCCTGGCGACGGGCGAGCAACTTTGCCTGCAACGTGGATTCACCGGGATGGGGCTAAGCGAATTACTAAAAACCGCTGAAGTGCCGAAAGGGTCCTTCTATCACTACTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCAt > 3:81744/1‑150 (MQ=255) tCGCGAACATCTCCTGGCGACGGGCGAGCAACTTTGCCTGCAACGTGGATTCACCGGGATGGGGCTAAGCGAATTACTAAAAACCGCTGAAGTGCCGAAAGGGTCCTTCTATCACTACTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCAt > 2:133090/1‑150 (MQ=255) ggCGACGGGCGAGCAACTTTGCCTGCAACGTGGATTCACCGGGATGGGGCTAAGCGAATTACTAAAAACCGCTGAAGTGCCGAAAGGGTCCTTCTATCACTGCTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCTTGAGCGTCATTa < 4:255796/150‑1 (MQ=255) ggCGACGGGCGAGCAACTTTGCCTGCAACGTGGATTCACCGGGATGGGGCTAAGCGAATTACTAAAAACCGCTGAAGTGCCGAAAGGGTCCTTCTATCACTACTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCGTGAGCGTCATTa > 1:344340/1‑150 (MQ=255) aCTTTGCCTGCAACGTGGATTCACCGGGATGGGGCTAAGCGAATTACTAAAAACCGCTGAAGTGCCGAAAGGGTCCTTCTATCACTACTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCGTGAGCGTCATTACGCCGCATATCACCa > 1:24689/1‑150 (MQ=255) ccTGCAACGTGGATTCACCGGGATGGGGCTAAGCGAATTACTAAAAACCGCTGAAGTGCCGAAAGGGTCCTGCTATCACTGCTTTCGCGCTAAAGAAGCGTTTGGCGTTGCCATGCTTGAGCGTCATTACGCCGCATATCACCAGCgact > 1:502646/1‑150 (MQ=255) cTGCAACGTGGATTCACCGGGATGGGGCTAAGCGAATTACTAAAAACCGCTGAAGTGCCGAAAGGGTCCTTCTATCACTACTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCGTGAGCGTCATTACGCCGCATATCACCAGCgactg > 3:89987/1‑150 (MQ=255) tGCAACGTGGATTCACCGGGATGGGGCTAAGCGAATTACTAAAAACCGCTGAAGTGCCGAAAGGGTCCTTCTATCACTGCTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCTTGAGCGTCATTACGCCGCATATCACCAGCgactga > 1:340876/1‑150 (MQ=255) cAACGTGGATTCACCGGGATGGGGCTAAGCGAATTACTAAAAACCGCTGAAGTGCCGAAAGGGTCCTTCTATCACTACTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCGTGAGCGTCATTACGCCGCATATCACCAGCgactgact > 4:271255/1‑150 (MQ=255) gTGGATTCACCGGGATGGGGCTAAGCGAATTACTAAAAACCGCTGACGTGCCGAAAGGGTCCTTCTATCCATACTCTCGATCTAAAGAAGCGTTTGGCGTTGCCATGCTTGAGCGTCATTACGCCGCATATCACCAGCGACTGACTGAGt < 1:116532/150‑1 (MQ=255) aCCGGGATGGGGCTAAGCGAATTACTAAAAACCGCTGAAGTGCCGAAAGGGTCCTTCTATCACTACTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCGTGAGCGTCATTACGCCGCATATCACCAGCGACTGACTGAGTTGCTGCaa > 1:266779/1‑150 (MQ=255) ggATGGGGCTAAGCGAATTACTAAAAACCGCTGAAGTGCCGAAAGGGTCCTTCTATCACTACTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCTTGAGCGTCATTACGCCGCATATCACCAGCGACTGACTGAGTTGCTGCAATCCg > 2:148776/1‑150 (MQ=255) gggCTAAGCGAATTACTAAAAACCGCTGAAGTGCCGAAAGGGTCCTTCTATCACTACTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCTTGAGCGTCATTACGCCGCATATCACCAGCGACTGACTGAGTTGCTGCAATCCGGCGaa < 2:349222/150‑1 (MQ=255) gggCTAAGCGAATTACTAAAAACCGCTGAAGTGCCGAAAGGGTCCTTCTATCACTACTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCTTGAGCGTCATTACGCCGCATATCACCAGCGACTGACTGAGTTGCTGCAATCCGGCGaa < 2:511299/150‑1 (MQ=255) gggCTAAGCGAATTACTAAAAACCGCTGAAGTGCCGAAAGGGTCCTTCTATCACTACTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCTTGAGCGTCATTACGCCGCATATCACCAGCGACTGACTGAGTTGCTGCAATCCGGCGaa < 1:476217/150‑1 (MQ=255) aGCGAATTACTAAAAACCGCTGAAGTGCCGAAAGGGTCCTTCTATCACTACTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCTTGAGCGTCATTACGCCGCATATCACCAGCGACTGACTGAGTTGCTGCAATCCGGCGAAGGTAAc > 3:142749/1‑150 (MQ=255) cGAACTACTAAAAACCGCTGAAGCGCCGAAAGGGACCTTCTATCACTACTTTCGCTCTACAGAAGCGTTCGGCGTTGCCATGCTTGAGCGTCACTACGCCGCATATCACCAGCGCACGACTGCGTTCCTGCAATCCGGCGAAGGCAACTa > 2:379765/1‑150 (MQ=255) aaTTACTAAAAACCGCTGAAGTGCCGAAAGGGTCCTTCTATCACTGCTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCTTGAGCGTCATTACGCCGCATATCACCAGCGACTGACTGAGTTGCTGCAATCCGGCGAAGGTAACTAcc > 2:71831/1‑150 (MQ=255) aaTTACTAAAAACCGCTGAAGTGCCGAAAGGGTCCTTCTATCACTGCTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCTTGAGCGTCATTACGCCGCATATCACCAGCGACTGACTGAGTTGCTGCAATCCGGCGAAGGTAACTAcc > 2:192215/1‑150 (MQ=255) tAAAAACCGCTGAAGTGCCGAAAGGGTCCTTCTATCACTACTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCTTGAGCGTCATTACGCCGCATATCACCAGCGACTGACTGAGTTGCTGCAATCCGGCGAAGGTAACTACCGCGAcc > 1:188426/1‑150 (MQ=255) agaagccGCTGAACTGCCGAAAGGGTCCTTCTATCACTGCTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCTTGAGCGTCATTGCGCCGAATATCACCAGCGACTGACTGAGTTGCTGCAATCCGGCGAAGGTAACTACCGCGACCg < 2:327565/145‑1 (MQ=255) cTGAAGTGCCGAAAGGGTCCTTCTATCACTACTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCTTGAGCGTCATTACGCCGCATATCACCAGCGACTGACTGAGTTGCTGCAATCCGGCGAAGGTAACTACCGCGACCGCATACTgg < 2:132698/150‑1 (MQ=255) aaGTGCCGAAAGGGTCCTTCTATCACTACTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCGTGAGCGTCATTACGCCGCATATCACCAGCGACTGACTGAGTTGCTGCAATCCGGCGAAGGTAACTACCGCGACCGCATACTGGCtt > 4:29585/1‑150 (MQ=255) aaaGGGTCCTTCTATCACTGCTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCTTGAGCGTCATTACGCCGCATATCACCAGCGACTGACTGAGTTGCTGCAATCCGGCGAAGGTAACTACCGCGACCGCATACTGGCTTATTACCAg < 2:385074/150‑1 (MQ=255) ctactTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCTTGAGCGTCATTACGCCGCATATCACCAGCGACTGACTGAGTTGCTGCAATCCGGCGAAGGTAACTACCGCGACCGCATACTGGCTTATTACCAGCAAACACTGAACCAGtt > 3:310239/1‑150 (MQ=255) ctactTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCTTGAGCGTCATTACGCCGCATATCACCAGCGACTGACTGAGTTGCTACAATCCGTCGATGGTAACGACCGCGACCGCATACTGGCTTATTACCAGCAAACACTGAACCAGtt > 1:314382/1‑150 (MQ=255) tactTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCTTGAGCGTCATTACGCCGCATATCACCAGCGACTGACTGAGTTGCTGCAATCCGGCGAAGGTAACTACCGCGACCGCATACTGGCTTATTACCAGCAAACACTGAACCAGttt > 3:33808/1‑150 (MQ=255) | GCATGAACAAACACACCGAACATGATACTCGCGAACATCTCCTGGCGACGGGCGAGCAACTTTGCCTGCAACGTGGATTCACCGGGATGGGGCTAAGCGAATTACTAAAAACCGCTGAAGTGCCGAAAGGGTCCTTCTATCACTACTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCTTGAGCGTCATTACGCCGCATATCACCAGCGACTGACTGAGTTGCTGCAATCCGGCGAAGGTAACTACCGCGACCGCATACTGGCTTATTACCAGCAAACACTGAACCAGTTT > NC_000913_3_hsa_tpiA/1726021‑1726313 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 27 ≤ ATCG/ATCG < 37 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |