Predicted mutation | |||||||
---|---|---|---|---|---|---|---|
evidence | seq id | position | mutation | freq | annotation | gene | description |
RA | NC_000913_3_hsa_tpiA | 2,976,638 | T→G | 61.1% | 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 | 61.1% | 15.0 / 25.1 | 37 | S14A (TCA→GCA) | galR | galactose‑inducible d‑galactose regulon transcriptional repressor; autorepressor |
Reads supporting (aligned to +/- strand): ref base T (8/6); new base G (14/8); total (23/14) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 7.38e-01 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 5.22e-01 |
ATTTGCGTTTGGCTCACATTCCCACGATGAAAACACGCCACCCCTTGAACCAACGGGCGTTTTCCGTAACACTGAAAGAATGTAAGCGTTTACCCACTAAGGTATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTTCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAGCGAAGCTTCCCGGCTGGCTGTGCATAGTGCAATGGAGTCTCTTAGCTATCACCCGAACGCCAACGCCCGTGCGCTGGCGCAGCAGACCACTGAAACGGTC > NC_000913_3_hsa_tpiA/2976490‑2976784 | atgtGCGTTTGGCTCACATTCCCACGATGAAAACACGCCACCCCTTGAACCAACGGGCGTTTTCCGTAACACTGAAAGAATGTAAGCGTTTACCCACTAAGGTATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGttt < 2:136290/146‑1 (MQ=255) aTTTGCGTTTGGCTCACATTCCCACGATGAAAACACGCCACCCCTTGAACCAACGGGCGTTTTCCGTAACACTGAAAGAATGTAAGCGTTTACCCACTAAGGTATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGttt < 2:211531/149‑1 (MQ=255) cGTTTGGCTCACATTCCCACGATGAAAACACGCCACCCCTTGAACCAACGGGCGTTTTCCGTAACACTGAAAGAATGTAAGCGTTTACCCACTAAGGTATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTTCAGTc < 1:535335/149‑1 (MQ=255) cGTTTGGCTCACATTCCCACGATGAAAACACGCCACCCCTTGAACCAACGGGCGTTTTCCGTAACACTGAAAGAATGTAAGCGTTTACCCACTAAGGTATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTGCAGTc < 2:409466/149‑1 (MQ=255) cGTTTGGCCCACATTCCCACGATGAAAACACGCCACCCCTTGAACCAACGGGCGTTTTCCGTAACACTGAAAGAATGGAAGCGTTTACCCACTAAGGTATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTTCAGTc < 1:344866/149‑1 (MQ=255) agTTTGGCTCACATTCCCACGGTGAAAACACGCACTCCCTTGAAGCAACGGGCGTTTTACGTAACTCTGAAAGAAGTTAAGCGTTTACCCACTAAGGTATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTTCAGTc < 2:417248/148‑1 (MQ=255) gTTTGGCTCACATTCCCACGATGAAAACACGCCACCCCTTGAACCAACGGGCGTTTTCCGTAACACTGAAAGAATGTAAGCGGTTACCCACAAAGGTATGTGCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTACAGtgg > 1:121495/1‑147 (MQ=255) tCACATTCCCACGATGAAAACACGCCACCCCTTGAACCAACGGGCGTTTTCCGTAACACTGAAAGAATGTAAGCGTTTACCCACTAAGGTATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTGCAGTCGCCACCGt > 1:177201/1‑149 (MQ=255) tCACATTCCCACGATGAAAACACGCCACCCCTTGAACCAACGGGCGTTTTCCGTAACACTGAAAGAATGTAAGCGTTTACCCACTAAGGTATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTGCAGTCGCCACCGt > 1:177841/1‑149 (MQ=255) caaactCCAACGATAGAAACACGAAACTCCTTGAACGAGCGTGCTTTTTCCGTAACACGGAAAGAATGTAAGCGGTTACCCACTAAGGTATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTGCAGTCGCCCCCGtt > 2:62942/6‑149 (MQ=255) ttCCCACGATGAAAACACGCCACCCCTTGAACCAACGGGCGTTTTCCGTAACACTGAAAGACTGTAAGCGTTTACCCACTAAGGTATTTTCATGGCGACCATAAATGATGTAGCCCGACTGGCGGACGTTTCAGTGGCCACCGTTTccc > 2:610033/1‑149 (MQ=255) ccACGATGAAAACACGCCACCCCTTGAACCAACGGGCGTTTTCCGTAACACGGAAAGAATGTAAGCGTTTACCCACTAAGGTATTTTCATGGCAGCCATAAAGGATGTAGCCCGACTGACAGGCGTTGCAGTCGCAACCGTTTTCcgcg > 2:295985/1‑149 (MQ=255) gATGAAAACACGCCACCCCTAGAACCAACGGGCGTTTTCCGTAACACTGAAAGAATGTAAGCGTTTACCCACTAAGGTATTGTCATGGCGACCATAAAGGATGTAGCCCGCCTGGCAGGCGTTTCACTCGCCACGGTTTCCCGCGCCAt > 2:249977/1‑149 (MQ=255) acGCCACCCCTTGAACCAACGGGCGTTTTCCGTAACACTGAAAGAATGTAAGCGTTTACCCACTAAGGTATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTTCAGTCGCCCCCGTTTCCCGCGTCATTAATAATTc > 2:265136/1‑149 (MQ=255) cACCCCTTGAACCAACGGGCGTTTTCCGTAACACTGAAAGAATGTAAGCGTTTACCCACTAAGGTATTTTCATGGCGACCATAAAGGATGTCGTCAGACTGGCAGGCGTTGCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCAccc > 1:472516/1‑149 (MQ=255) gccgtGAACCAGCGGGCGTTTTCTGTAACACTGAAAGAATGTAACCGTTTACCCACTAAGGTATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTTCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCaaa < 2:34372/145‑1 (MQ=255) ttGAACCAACGGGCGTTTTCCGTAACACTGCAAGAATGTAAGCGTTTACCCACTAAGGTATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTGCAGTCGCCACCATTTCCCGCGTCATTAATAATTCACCCCAAGcc > 1:163966/1‑149 (MQ=255) ttGAACCAACGGGCGTTTTCCGTAACACTGAAAGAATGTAAGCGTTTACCCACTAAGGTATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTTCAGTCGCCACCGTTTCCCACGTCATTACTAATTAACCCAAAGcc > 2:521989/1‑149 (MQ=255) aCCAACGGGCGTTTTCCGTAACACTGAAAGAATGTAAGCGTTTACACACTAAGGTATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTTCCATCGCCACCGTTTCCCGCCTAATTAATAATTCAACCAAAGCCAGCg > 2:299964/1‑149 (MQ=255) aaCGGGCGTTTTCCGTAACACTGAAAGAATGTAAGCGTTTACCCACTAAGGTATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTTCAGTCGCCACCGTTTCCCGCGTCGTTAATAATTCACCCAAAGCCAGCGacg > 1:7994/1‑147 (MQ=255) acTGAAAGAATGTAAGCGTTTACCCACTAAGGTATTTTCATGGCGACCAGAAAGGATATAGCCCGACTGGCAGGCGTTGCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCCCCCAAAGCCAGCGAAACTTCCCCGCTGGCTCTGCa > 2:532629/1‑149 (MQ=255) tGAAAGAATGTAAGCGTTTACCCACTAAGGTATTTTCATGACGACCATAAAGGATGTTCTCCGAGTGCCAGGCTAGGCTGTTCCCAACGTCTACCCACTCCGTAATGATTCACCCAAAGCCAGCGAAGCTTCCCGCCTGCACGTGCATa > 2:341225/1‑149 (MQ=255) gAAAGAATGTAAGCGTTTACCCACTAAGGTATTGTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTGCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAGCGAAGCTTCCCGGCTGGCTGTGCATAg < 2:222142/149‑1 (MQ=255) gaaGAATGTAAGCGTTTACCCACTCAGGTAGTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTGCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCTTTGGAAGCTTCCCGGTTGGCTGTGCATAGt < 2:659125/148‑1 (MQ=255) aaaGAATGTAAGGCTTTACCCAATAAGGTATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTGCAGTCGCCACCGTTTCTCGCGTCATTAATAATTCACCCAAAGCCAGCGAAGCTTCCCGGCTGGCTGTGCATAGt < 2:107496/149‑1 (MQ=255) gAATGTAAGAGTTTATCCACTAAGGTATTTTCATGGCGACCATAAAGGAAGTAGCACGGCTGGCAGGCGTTTCAGTCGCCACCGTTTCCCGCGTCATTTATAGTTCACCCTAGGCCAACGAAACTTCCCGGCTGGCTGTGGATGATGCa > 2:468521/1‑149 (MQ=255) aaTGTAAGCGTTTACCCACTAAGGTATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTTCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAGCGAAGCTTCCCGGCTGGCTGTGCATAGTGCaa < 2:511904/149‑1 (MQ=255) aTGGAAGCGTTTACCCCATAAGGTATTTTCATGCGCACCATATAGGATGTAGCCCGACTGGCAGGCGTTGCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAGCGAAGCTTCCCGGCTGGCTGTGCATAGTGCAAt < 2:279041/149‑1 (MQ=255) tAAGCGTTTACCCACTAAGGTATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTGCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAGCGAAGCTTCCCGGCTGGCTGTGCATAGTGCAATGGa < 1:683356/149‑1 (MQ=255) cccAGTATGGTATCTTCATGGCGATCATAAAGGAGGTAGCACGATTGGCAGGCGTTGCAGTCGCCGCCGTTTCCCGCGTCATTAATAATTCACCCATCGCCAGCGAAGCTTCCCGGCTGGCTGTGCATAGTTCAATGGAGTCTCTTAGc < 2:48993/149‑1 (MQ=255) aCTAAGGTATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTGCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAGCGAAGCTTCCCGGCTGGCTGTGCATAATGCAAAGGAGACTCTTAGCTAt > 1:426509/1‑149 (MQ=255) ttCCTGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTGCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAGCGAAGCTTCCCGGCTGGCTGTGCATAGTGCAATGGAGTCTCTTAGCTATCACCCGaacgc < 1:228257/149‑1 (MQ=255) aTGGCGACCATAAAGGATGTAACCCGACTGGCAGGCGTTTCAGTCGCCACCGTTTCCCGCGTCATTAACAATTCACCCACAGCCAGCGAAGCTTCCCGCCTGGCTGTCCATAGTGCAACGGAGCCTCTTCGCTATCAACCGcacgccac > 2:608225/1‑148 (MQ=255) tGGCGACCATAAAGGATGTAGCCCGACTGGCAAGCGTTGCAGTCGCCACGGTTTACCGCGTCATTAATAATTCACCCAAAGCCCGCGAAGCTTCCCGGCTGGCTGTGCATAGTGCGATGGAGCCGCATACCTATCTCCCGaacgccaca > 2:212217/1‑147 (MQ=255) aaGGATGTAGCCCGACTGGCAGGCGTTGCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCCCCCAAAGCCAGCGAAGCTTCACGGGTGGCTGTGCATAGTGCAATGGAGGTTCTTACCTATCCCCCGACAGCCAACGCCCGtcggct > 2:217278/1‑144 (MQ=255) aGGATGTAGCCCGACTGGCAGGCGTTGCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCCGCGAAGCTTCCCGGCTGGCTGTGCATCGTGCAATGGAGTCTCTTAGCTATCACCCGAACGCCACCCGCCGTgcgccg > 1:258110/1‑147 (MQ=255) gCCCGACTGGCAGGCGTTGCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAGCGAAGCTTCCCGGCTGGCTGTGCATAGTGCAATGGAGTCTCTTAGCTATCACCCGAACGCCAACGCCCGTGCGCTGGCgcagca > 2:462584/1‑149 (MQ=255) ccGACTGGCAGGCGTTGCAGTCACAACCGTTTCCCGCGCCATTAATAATTCACCCAAAGCCAGCGAAGCTTCCCGGCTGGCTGTGCATAGCGCAATGGAGTCTCTTAGCTATCACCCGAACGCCAACGCCAGTACGCTGACGcagcagc > 2:115340/1‑148 (MQ=255) aGGCGTTTCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAGCGAAGCTTCCCGGCTGGCTGTGCATAGTGCAATGGAGTCTCTTAGCTATCACCCGAACGCCAACGCCCGTGCGCTGGCGCAGCAGACCACTGcaa < 1:655280/149‑1 (MQ=255) gtctCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAGCGAAGCTTCCCGGCTGGCTGTGCATAGCGCAATATGGTCTCTTAGCTATCATCCGAACGCCACCGCCCGTGCGCTGGCGCAGCAGACCACTGAAAcggt < 1:20226/146‑1 (MQ=255) tttCAGTCGCCACCGTTTCCCGCGTCATTAATAAGTCACCCAAAGCCAGCGAAGCTCCCCGGCGGGCTGTGCATAGTGCAATGGAGTCTCTTAGCTATCACCCGAACGCCAACGCCCGTGCGCTGGCGCAGCAGACCACTGAAAcggtc < 1:612731/149‑1 (MQ=255) | ATTTGCGTTTGGCTCACATTCCCACGATGAAAACACGCCACCCCTTGAACCAACGGGCGTTTTCCGTAACACTGAAAGAATGTAAGCGTTTACCCACTAAGGTATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTTCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAGCGAAGCTTCCCGGCTGGCTGTGCATAGTGCAATGGAGTCTCTTAGCTATCACCCGAACGCCAACGCCCGTGCGCTGGCGCAGCAGACCACTGAAACGGTC > NC_000913_3_hsa_tpiA/2976490‑2976784 |
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: ‑ |