| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | NC_000913_3_hsa_tpiA | 2,976,638 | T→G | 58.0% | S14A (TCA→GCA) | galR → | galactose‑inducible d‑galactose regulon transcriptional repressor; autorepressor |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | NC_000913_3_hsa_tpiA | 2,976,638 | 0 | T | G | 58.0% | 13.5 / 25.4 | 34 | S14A (TCA→GCA) | galR | galactose‑inducible d‑galactose regulon transcriptional repressor; autorepressor |
| Reads supporting (aligned to +/- strand): ref base T (7/7); new base G (8/11); total (16/18) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 7.33e-01 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.56e-01 | |||||||||||
TTTGGCTCACATTCCCACGATGAAAACACGCCACCCCTTGAACCAACGGGCGTTTTCCGTAACACTGAAAGAATGTAAGCGTTTACCCACTAAGGTATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTTCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAGCGAAGCTTCCCGGCTGGCTGTGCATAGTGCAATGGAGTCTCTTAGCTATCACCCGAACGCCAACGCCCGTGCGCTGGCGCAGCAGACCA > NC_000913_3_hsa_tpiA/2976497‑2976773 | tttGGCTCACATTCCCACGATGAAAACACGCCACCAAATAAACCAATGGGAGTTTTCCGTAACCCTGAAAGAATGTAAGCGTTTACCCACTAAGGTACTTTCATAGCGACCATAAAGGATGTAGCCCCACCGGCAAGCGTTCCaaccgc > 1:299521/1‑144 (MQ=255) gCTCACATTCCCACGATGAAAACACGCCACCCCTTGAACCAACGGGCGTTTTCCGTAACACTGAAAGAATGTAAGCGTTTACCCACTAAGGTATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCCGGCGTTTCAGTCGCCAcc > 1:225751/1‑149 (MQ=255) cTCACATTCCCACGATGAAAACACGCCACCCCTTGAACCAACGGGCGTTTTCCGTAACACTGAAAGAAGGTAGGCGTTTACCCCCTAAGGTATTTTCATGGCGACCATGAAGGATGTAGCCCCACTCGCATGCGTTTCAGTCGccgacg > 2:471841/1‑145 (MQ=255) acaTTCCCACGAAGAAAACACGCCACCCCTTGAACCAACGGGCGTTTTCCGTAACACTGAAAGAATGTAAGCGTTTACCCACTAAGGTATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTGCAGTCGCCACCGttt < 1:598500/149‑1 (MQ=255) ttCCCACGATGAAAACACGCCACCCCTTGAACCAACGGGCGTTTTCCGTAACACTGAAAGAATGTAAGCGTTTACCCACTAAGGTATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTGCAGTCGCCACCGTTTccc > 2:425098/1‑149 (MQ=255) cccACGATGAAAACACGCCACCCCTTGATCCAACGGGCGTTTTCCGTAACACTGAAAGAATGTAAGCGTTTACCCACTAAGGTATTTTCATGGCGACCATTAAGGATGTAGCCCGACTGGCAGGCGTTGCAGTCGCCACCGTTTCCcgc < 2:449287/149‑1 (MQ=255) cGATGAAAACACGCCACCCCTTGAACCAACGGGCGTTTTCCGTAACACTGAAAGAATGTAAGCGTTTACCCACTAAGGTATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTGCAGTCGCCACCGTTTCCCGCGTCa < 1:552574/149‑1 (MQ=255) gATGAAAACACGCCACCCCTTGAACCAACGGGCGTTTTCCGTAAAACTGAAAGCATCTAAGCGATTACCCACCAAGGTATATTCATGGCCACCATAAAGGAAATACCACAACCGGCAGGCGTTGCAGTCCCCACCGCTTCGCCCGTCAt > 2:234993/1‑149 (MQ=255) aagccGCCACCCCGTGAGACAAAGAGCGTTGTCCGTACCACTGGAAGAATGTAATCGTTCACCCACTAAGGTCCTTTCCTGGCGACCATCAAGGATGTAGCCCGACTGTCAGGCGTTTCAGTCGCCACCGTTTCCTTCGTCATtaataa < 2:270595/145‑1 (MQ=255) acGCCACACCTTGAACCGACGGGCGTTTTCCGTAACACTGTACGATGTTCCGCGATCGGCCTGGAACGCAAATTCATTGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTGCAGTCGCCACCGTTTCCCCCGCCATTAATAAtta > 2:129110/1‑148 (MQ=255) aCCCCTTGAACCAACGGGCGTTTTCCGTAACACTGAAAGAATGTAAGCGTTTACCCACTAAGGTATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTTCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCa > 1:335500/1‑149 (MQ=255) cccTTGAACCAACGGGCGTTTTCCGTAACACTGAAAGAATGTAAGCGTTTACCCACTAAGGTATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTTCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCaaa > 1:479921/1‑149 (MQ=255) cccTTGAACCAACGGGCGTTTTCCGTAACACTGAAAGAATGTAAGCGTTTACCCACTAAGGTATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTGCAGTCGCAACCGTTTCCCGCGTCGTTAATAATTCACCCaac > 2:162662/1‑148 (MQ=255) cTTGAACCAACGGGCGTTTTCCGTAACACTGAAAGAATGTAAGCGTTTACCCACTAAGGTATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTTCATTCGCCGTCGTTTCCCGCGTCATTAATAATTCACCCAAAGc < 1:609971/149‑1 (MQ=255) gAACCAACGGGCGTTTTCCGTAACACTGAAAGAATGTAAGCGTTTACCCACTAAGGTATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGTCGTTTCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAg < 2:459014/149‑1 (MQ=255) cAACGGGCGTTTTCCGTAACACTGAAAGAATGAAAGCGTTTACCCACTAAAGTATTTTCATGGCGACGATAAAGGATGTAGCCCGACTGGCAGGCGTTTCAGTCGCCACCTTTTCCCGCGTCATTAATAATTCACCCAAAGCCATCGaa < 2:532545/149‑1 (MQ=255) ccGTTTTCCGTAACACTGAAAGAATGTAAGCGTTTACCCACTAAGGTATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTGCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAGCGAAGCTTcc < 1:251216/148‑1 (MQ=255) gtttCCGTAACACGTAAAGAATGTAAGCGTTTACCCACTAAGGTATTTTCATGGCGTCCATAAAGGATGTAGCCCGACTGGCAGGCGTTGCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAGCGAAGCTTCCCgg < 2:85228/148‑1 (MQ=255) tttCCGTAACACTGAAAGAATGTAAGCGTTTACCCACTAAGGTATTTTCATGGCGCCCATAAAAGATGTAGCCCGACTGGCAGGCGTTTCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCCAAGACAGCGCAGCTTACCggt > 2:333379/1‑148 (MQ=255) tAACACTGAAAGGATGTAAGCGTTTACCCACTAAGGTATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTGCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAGCGAAGCTTCCCGgctggctg > 2:105130/1‑149 (MQ=255) aaCACTGAAAGAATGTAAGCGTTTACCCACTAAGGTATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTTCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAGCGAAGCTTCCCGGCTGGCtgt < 1:81144/149‑1 (MQ=255) aTGTAAGCGTTTACCCACTAAGGTATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTGCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAGCGAAGCTTCCCGGCTGGCTGTGCATAGTGCAAt < 1:406800/149‑1 (MQ=255) tAAGCGTTTACCCACTAAGGTATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTTCAGTCGCCACCGTTTCCCGCGTCATTCATAATTCACCCAAAGCCAGCGAAGCTTCCCGGCTGGCTGTGCATAGTGCCATGGa > 2:14013/1‑149 (MQ=255) tAAGCGTTTACCCACTAAGGTATTTCCATGGCGACCATAAAGCATGTAGCCCGACTGGCAGGCGTTTCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAGCGAAGCTTCCCGGCTGGCTGTGCATAGTGCAATGGa < 1:25173/149‑1 (MQ=255) cGTTTAACCACTAAGGTATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTGCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAGCGAAGCTTCCCGGCTGGCTGTGCATAGTGCAATGGAGtct < 2:221856/149‑1 (MQ=255) tACCCACTAAGGTATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTGCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAGCGAAGCTTCCCGGCTGGCTGTGCATAGTGCAATGGAGTCTCTTa < 1:272068/149‑1 (MQ=255) tACCCACTAAGGGATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTTCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAGCGAAGCTTCCCGGCTGGCTGTGCATAGTGCAATGGAGTCTCTTa < 2:190709/149‑1 (MQ=255) ccACTAAGGTATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTGCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAGCGAAGCTTCCCGGCTGGCTGTGCATAGTCCAATGGAGTCTCTTGGCt > 2:307639/1‑149 (MQ=255) cACTAAGGTATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTGCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAGCGAAGCTTCCCGGCTGGCTGTGCATAGTGCAATGGAGTCTCTTAGCTa > 1:431134/1‑149 (MQ=255) aaGGTATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTGCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAGCGAAGCTTCCCGGCTGGCTGTGCATAGTGCAATGGAGTCTCTTAGCTATCAc < 1:32393/149‑1 (MQ=255) tATTTTCATGGCGACCATAAAGGGTGTTACCCGACTGGCAGGCGTTGCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAGCGAAGCTTCCCGGCTGGCTGTGCATAGTGCAATGGAGTCTCTTAGCTATCACCCGa > 2:377916/1‑149 (MQ=255) tGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTTCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAGCGAAGCTTCCACGATGAGGGGTCAGAGTGCAATGGAGTCTCTTAGCTATCACCCGaacgccaac > 1:200792/1‑149 (MQ=255) gTAGCCCGACTGGCAGGCGTTGCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAGCGAAGCTTCCCGGCTGGCTGTGCATAGTGCAATGGAGTCTCTTAGCTATCACCCGAACGCCAACGCCCGTGCGCTGGCgca < 1:156700/149‑1 (MQ=255) aCTGGCAGGCGTTGCAGTCGCCACCCTTTCCGGCGTCATTAATAATTCACCCAAAGCCAGCGAAGCTTCCCGGCTGGCTGTGCATAGTTCAATGGAGTCTCTTAGCTATCACCCGAACGCCAACGCCCGTGCGCTGGCGCAGCAGACCa < 2:253845/149‑1 (MQ=255) | TTTGGCTCACATTCCCACGATGAAAACACGCCACCCCTTGAACCAACGGGCGTTTTCCGTAACACTGAAAGAATGTAAGCGTTTACCCACTAAGGTATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTTCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAGCGAAGCTTCCCGGCTGGCTGTGCATAGTGCAATGGAGTCTCTTAGCTATCACCCGAACGCCAACGCCCGTGCGCTGGCGCAGCAGACCA > NC_000913_3_hsa_tpiA/2976497‑2976773 |
| Alignment Legend |
|---|
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: ‑ |