| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | NC_000913_3_hsa_tpiA | 1,726,165 | A→G | 23.5% | 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 | 23.5% | 22.9 / 2.4 | 17 | Y48C (TAC→TGC) | nemR | transcriptional repressor for the nemRA‑gloA operon, quinone‑, glyoxal‑, and HOCl‑activated |
| Reads supporting (aligned to +/- strand): ref base A (11/2); new base G (2/2); total (13/4) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 2.19e-01 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 8.65e-01 | |||||||||||
AACGCATGAACAAACACACCGAACATGATACTCGCGAACATCTCCTGGCGACGGGCGAGCAACTTTGCCTGCAACGTGGATTCACCGGGATGGGGCTAAGCGAATTACTAAAAACCGCTGAAGTGCCGAAAGGGTCCTTCTATCACTACTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCTTGAGCGTCATTACGCCGCATATCACCAGCGACTGACTGAGTTGCTGCAATCCGGCGAAGGTAACTACCGCGACCGCATACTGGCTTATTACCAGCAAACACTGAACC > NC_000913_3_hsa_tpiA/1726018‑1726308 | aaCGCATGAACAAACACACCGAACATGATACTCGCGAACATCTCCTGGCGACGGGCGAGCAACTTTGCCTGCAACGTGGATTCACCGGGATGGGGCTAAGCGAATTACTAAAAACCGCTGAAGTGCCGAAAGGGTCCTTCTATCactac < 1:277542/149‑1 (MQ=255) cGCATGAACAAACACGCGGGACATGATACTCGCGAACATCTCAGGGCGACGGGCGAGCAGCGTTGCATGCAACGTGGACTCAGCGGTATGGGGCTAAGAGAATTACTAAAAACCGCTGAAGTGCCGAAATGGTCCTTCTATCACTGCtt < 2:11163/149‑1 (MQ=255) gAACATGATACTCGCGAACATCTCCTGGCGACGGGCGGGCAACTTTGCGTGCAACGTGGATTCACCGGGATGGGGTTAAGCGAATTACTAAAACCCGCTGAAGGGCCGAAAGGGTCCTTCTATCACTACTTTCGCTCTAAAGAAGCGtt < 2:417349/149‑1 (MQ=255) tCGCGAACATCTCCTGGCGACGGGCGAGCAACTTTGCCTGCAACGTGGATTCACCGGGATGGGGCTAAGCGAATTACTAAAAACCGCTGAAGTGCCGAAAGGGTCCTTCTATCACTACTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCa > 1:219788/1‑149 (MQ=255) gAACATCTCCTGGCGACGCGCGAGCAACTTTGCCTGCAACGTGGATTCACCGGGAGGGGGCTAAGCGAATTACTAAAACCCGCTGAAGTGCCGAAAGGGTCCTTCTATCACTACTTTCGCTCTAGAGAAGCGTTTGGCGTTGCCATGCt > 1:568869/1‑149 (MQ=255) tcCTGGCGACGGGCGAGCAACTTTGCCTGCAACGTGGATTCACCGGGATGGGGCTAAGCGAATTACTAAAAACCGCTGAAGTGCCGAAAGGGTCCTTCTATCACTGCTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCTTGAGCGt > 1:545625/1‑149 (MQ=255) cTGGCGACGGGCGAGCAACTTTGCCTGCAACGTGGATTCACCGGGATGGGGCTAAGCGAATTACTAAAAACCGCTGAAGTGCCGATAGGGTCCTTCTATCACTGCTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCTCGAGCGTCa > 1:547197/1‑149 (MQ=255) gAGCAACTTTGCCTGCAACGTGGATTCACCGGGATGGGGCTAAGCGAATTACTAAAAACCGCTGAAGTGCCGAAAGGGTCCTTCTATCACTACTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCTTGAGCGTCATTACGCCGCata > 1:463050/1‑149 (MQ=255) aCTTTGCCTGCAACGTGGATTCACCGGGATGGGGCTAAGCGAATTACTAAAAACCGCTGAAGGGCCGAAAGGGTCCTTCTATCACTACTTTCGCTATAAAGAAGCGTTTGGCGTAGCCATGATTGAGGGTCATTACGCCGCATATCGcc > 2:173238/1‑149 (MQ=255) ttCACCGGGATGGGGCTAAGCGAATTACTAAAAACCGCTGAAGTGCCGAAAGGGTCCTTCTATCACTACTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCTTGAGCGTCATTACACCGCATATAACCAGCGACTGACCGAGTggct > 1:412815/1‑149 (MQ=255) gCTAATCGAATGACTAAACACCTCTGAAGTGCCGAAAGGGTCCTTCTATCACTACTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCTTGAGCGTCATTACGCCGCATATCACCAGCGACTGACTGAGTTGCTGCAATCCGGCGAAg < 1:508650/149‑1 (MQ=255) cgagtggCCGAAAGGGTCCTTGTATCACGGCTTTCGCTCTAAAGAAGCGTGTGGCGTTGCCATGCGTGAGCGTCATTACGCCGCATATCACCAGCGACTGACTGAGTTGCTGCAATCCGGCGAAGGTAACTACCGCGACCGCATACTgg < 2:404413/143‑1 (MQ=255) aGGGTCCTTCTATCACTACTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCTTGAGCGTCATTACGCCGCATATCACCAGCGACTGACTGAGTTGCTGCAATCCGGCGAAGGTAACTAGCGCGACCGCCTAGTGGCTTGTTTCCTGc > 1:72321/1‑149 (MQ=255) ggTCCTTCTATCGCTACTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCTTGAGCGTCATTACGCCGCATATCACCAGCGACCTACTGAGTTGCTGCAATCCGGCCGAGGTAACTACCGCGACCGCCTACTGCCTGATAACCGGCag > 2:470630/1‑148 (MQ=255) ccTTCTATCACTACTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCTTGAGCGTCATTACGCCGCATATCACCAGCGACTGACTGAGTTGCTGCAATCCGGCGAAGGTAACTACCGCGACCGCATACTGGCTTATTACCAGCAAaca > 1:79289/1‑149 (MQ=255) ttCTATCACTACTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCTTTAGCGTCATTACGCCGCATATCACCAGCGACTGACTGAGTTGCTGCAATCCGGCGAAGGTAACTACCGCGACCGACTACGGTCTCACTACCAGTCAACACt > 2:463446/1‑149 (MQ=255) tATCACTACTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCTTGAGCGTCATTACGCCGCATATCACCAGCGACTGACTGAGTTGCTGCAATCCGGCGAAGGTAACTACCGCGACCGCATACTGGCTTATTACCAGCAAAAACTGaa > 1:225492/1‑149 (MQ=255) tCACTACTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCTTGAGCGTCATTACGCCGCATATAACCACCGAGGCACTGGGTTTCTGCAATCCGGCGCGGGTAAATACCGCGACCGCATACTGGCTAGTTACAAGCAAATACTGAAcc > 2:68124/1‑149 (MQ=255) | AACGCATGAACAAACACACCGAACATGATACTCGCGAACATCTCCTGGCGACGGGCGAGCAACTTTGCCTGCAACGTGGATTCACCGGGATGGGGCTAAGCGAATTACTAAAAACCGCTGAAGTGCCGAAAGGGTCCTTCTATCACTACTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCTTGAGCGTCATTACGCCGCATATCACCAGCGACTGACTGAGTTGCTGCAATCCGGCGAAGGTAACTACCGCGACCGCATACTGGCTTATTACCAGCAAACACTGAACC > NC_000913_3_hsa_tpiA/1726018‑1726308 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 8 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 22 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |