Predicted mutation | ||||||
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evidence | seq id | position | mutation | annotation | gene | description |
RA | NC_000913_3_hsa_tpiA | 1,197,502 | C→T | G11R (GGA→AGA) | ymfD ← | e14 prophage; putative SAM‑dependent methyltransferase |
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 | 1,197,502 | 0 | C | T | 97.6% | 128.2 / NA | 41 | G11R (GGA→AGA) | ymfD | e14 prophage; putative SAM‑dependent methyltransferase |
Reads supporting (aligned to +/- strand): ref base C (0/0); major base T (17/23); minor base G (1/0); total (18/23) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 4.39e-01 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.00e+00 |
CTGATTAATTCATCAGAATATCTAAGTTTTCCGCAGCCAAAATCAAGGGCGTGGCCATTTTTCTCAATGCTTCTAATATACTCGCAAAGATATCTAGAGGGCATCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATATTAACTCCGTGCATATTATAGTTCAAAGCAAGTACCATTCAATTAATGTTATTTTTAGTGAAAAATTCTTTTATTTTATCGTCCGGGATTTTTCCGACTTGACTTTCAGTTCTGGGCTTAACTGTCAAAGCAAAGATAATACCACTCACTGAG > NC_000913_3_hsa_tpiA/1197357‑1197647 | cTGATTAATTCATCAGAATATCTAAGTTTTCCGCAGCCAAAATCAAGGGCGTGGCCATTTTTCTCAATGCTTCTAATATACTCGCAAAGATATCTAGAGGGCATCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATATTAACTCtgtg < 2:56614/149‑1 (MQ=255) aTTAATTCATCAGAATATCTAAGTTTTCCGCAGCCAAAATCAAGGGCGTGGCCATTTTTCTCCATGCTTCTAATATACTCGCAAAGATATCTAGAGGGCATCGTATGAGGTTTTGCTGCATTTTCTGATCGAATATTAACTCGGTGCat > 2:362074/1‑149 (MQ=255) aTTCATCACAATATCTAAGATTTACGCCGCCAAAATCAAGGGCGTGGCCATTTTTCTCAATGCTTCTAATATACCCGCAAAGATATCTAGAGGGCATCGTATGAGCTTTTGCTGCATTCTCTGAGCGAATATTAACTCTGTGCAtatta < 1:184966/149‑1 (MQ=255) aaTAGCGAAGTTTTCCGCAGCCAAAATCAAGGGCGTGGCCATTGTTCTCAATGCTTCTAATATACTCGCAAAGATATCGAGAGGGCATCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATATTAACTCTGTGCATATTATAGTTCaaa < 2:137958/149‑1 (MQ=255) tCTAAGTTTTCCGCAGCCAAAATCAAGGGCGTGGCCATTTTTCTCAATGCTTCTAATATACTCGCAAAGATATCTAGAGGGCATCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATATTAACTCTGTGCATATTATAGTTCAAAGCaa < 2:716602/149‑1 (MQ=255) cTAAGTTTTCCGCAGCCAAAATCAAGGGCGTGGCCATTTTTCTCAATGCTTCTAATATACTCGCAAAGATATCTAGAGGGCATCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATATTAACTCTGTGCATATTATAGTTCAAAGCCAg > 1:130012/1‑149 (MQ=255) ttCCGCAGCCAAAATCAAGGGCGTGGCCATTTTTCTCAATGCTTCTAATATACTCGCAAAGATATCTAGAGGGCATCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATATTAACTCTGTGCATATTATAGTTCAAAGCAAGTACCAtt < 2:668583/149‑1 (MQ=255) ccgccgCCAAAATCAAGGGCGTGGCCATTGTTCTCAATGCTTCTAATATACCCGCAAAGATATCTAGAGGGCATCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATATTAACTCTGTGCATATTATAGTTCAAAGCAAGTACCATTCa < 1:22674/149‑1 (MQ=255) ccAACATCAAGGGCGTGGCCATTTTTCTCAATGCTTCTAATATACTCGCAAAGATATCTAGAGGGCATCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATATTAACTCTGTGCATATTATAGTTCAAAGCAAGTACCATTCAATTAAt < 1:398883/149‑1 (MQ=255) ccAAAATCAAGGGCGTGGCCATTTTTCTCAATGCTTCTAATATACTCGCAAAGATATCTAGAGGGCATCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATATTAACTCTGTGCATATTATAGTTCAAAGCAAGTACCATTCAATTAAt > 2:516777/1‑149 (MQ=255) gggCGTGGCCATTTTTCTCAATGCTTCTAATATACTCGCAAAGATATCTAGAGGGCATCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATATTAACTCTGTGCATATTATAGTTCAAAGCAAGTACCATTCAATTAATGTTATTTTTa < 1:937571/149‑1 (MQ=255) ccATTTTTCTCAATGCTTCTAATATACTCGCAAAGATATCTAGAGGGCATCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATATTAACTCTGTGCATATTATAGTTCAAAGCAAGTACCATTCAATTAATGTTATTTTTAGTGaaaaa > 1:617561/1‑149 (MQ=255) ttttCTCAATGCTTCTAATATACTCGCAAAGATATCTAGAGGGCATCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATATTAACTCTGTGCATATTATAGTTCAAAGCAAGTACCATTCAATTAATGTTATTTTTAGTGAAAAATTCt < 2:469257/149‑1 (MQ=255) ttttCTCAATGCTTCTAATATACTCGCAAAGATATCTAGAGGGCATCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATATTAACTCTGTGCATATTATAGTTCAAAGCAAGTACCATTCAATTAATGTTATTTTTAGTGAAAAATTCt < 2:17285/149‑1 (MQ=255) tttCTTAATGCTTCTAATATACACGCAAAGATATCTAGAGGGCATCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATATTAACTCTGTGCATATTATAGTTCAAAGCAAGTACCATTCAATTAATGTTATTTTTAGTGAAAAATTCtt < 1:46272/149‑1 (MQ=255) tcAATGCTTCTAATATACTCGCAAAGATATCTAGAGGGCATCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATATTAACTCTGTGCATATTGTAGTTCCAGGCAAGTACCATTCAATGTATGTTATTTTTAGTGAAAAGTTCttttat > 1:290978/1‑149 (MQ=255) cAATGCTTCTAATATACTCGCAAAGATATCTAGAGGGCATCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATATTAACTCTGTGCATATTATAGTTCAATGCAAGTTCCATTCAATTAATGTTATTTTTAGTGAAAAATTCttttatt < 1:246826/149‑1 (MQ=255) cAATGCTTCTAATATACTCGCAAAGATATCTAGAGGGCATCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATATTAACTCTGTGCATATTATAGTTCAAAGCAAGTACCATTCAATTAATGTTATTTTTAGTGAAAAATTCttttatt > 1:200609/1‑149 (MQ=255) ataCTCGCAAAGATATCTAGAGGGCATCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATATTAACTCTGTGCATATTATAGTTCAAAGCAAGTACCATTCAATTAATGTTAtttt > 1:903631/1‑116 (MQ=255) ataCTCGCAAAGATATCTAGAGGGCATCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATATTAACTCTGTGCATATTATAGTTCAAAGCAAGTACCATTCAATTAATGTTAtttt < 2:903631/116‑1 (MQ=255) tCGCAAAGATATCTAGAGGGCATCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATATTAACTCTGTGCATATTATAGTTCAAAGCAAGAACCAATCAATTAATGTTATTGTTAGTGAAAAATTCTTTTATTTTATCGTCCGGGAtttt > 2:352676/1‑149 (MQ=255) gCAAAGATATCTAGAGGGCATCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATATTAACTCTGTGCATATTATAGTTCAAAGCAAGTACCATTCAATTAATGTTATTTTTAGTGAAAAATTCTTTTATTTTATCGTCCGGGAttttt > 2:355764/1‑148 (MQ=255) gCAAAGATATCTAGAGGGCATCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATATTAACTCTGTGCATATTATAGTTCAAAGCAAGTACCATTCAATTAATGTTATTTTTAGTGAAAAATTCTTTTATTTTATCGTCCGGGAttttt < 1:355764/148‑1 (MQ=255) gCAAAGATATCTAGAGGGCATCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATATTAACTCTGTGCATATTATAGTTCAAAGCAAGTACCATTCAATTAATGTTATTTTTAGTGAAAAATTCTTTTATTTTATCGTCCGGGATTTTTc > 2:777889/1‑149 (MQ=255) aGATATCTAGAGGGCATCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATATTAACTCTGTGCATATTATAGTTCAAAGCAAGTACCATTCAATTAATGTTATTTTTAGTGAAAAATTCTTTTATTTTATCGTCCGGGATTTTTCCgac < 1:598877/149‑1 (MQ=255) cTAGAGGGCATCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATATTAACTCTGTGCATATTATAGTTCAAAGCAAGTACCATTCAATTAATGTTATTTTTa < 1:912574/102‑1 (MQ=255) cTAGAGGGCATCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATATTAACTCTGTGCATATTATAGTTCAAAGCAAGTACCATTCAATTAATGTTATTTTTa > 2:912574/1‑102 (MQ=255) cTAGAGGGCATCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATATTAACTCTGTGCATATTATAGTTCAAAGCAAGTACCATTCAATTAATGTTATTTTTAGTGAAAAATTCTTTTATTTTATCGTCCGGGATTTTTCCgacttgact < 2:130012/149‑1 (MQ=255) agGGCATCTTATGAGGTGTTGCTGCATTCTCTGAGCTAATATTACATCTGTGCATATTATAGTTCAAAGCAAGTACCATTCAATTAATGTTATTTTTAGTGAAAAATTCTTTTATTTTATCGTCCGGGATTTTTCCGACTTGACTTTCa < 2:117337/149‑1 (MQ=255) ggCATCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATATTAACTCTGTGCATATTATAGTTCAAAGCAAGTACCATTCAATTAACGTTATTTTTAGTGAAAAATTCTTTTATTTTATCGTCCGGGATTTTTCCGACTTGGCTTTCAGt > 1:921927/1‑149 (MQ=255) aTCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATATTACATCTGTGCTTTTTATATTTCAAATTAAGTACCATTCAATTAATGTTATTTTGAGTGAAAAATTCTTTTATTTTATCGTCCGGGATTTTTCCGACTTGACTTTCAGTTCt < 2:997315/149‑1 (MQ=255) gTATGAGGTTTTGCTGCATTCTCTGAGCGAATATTAACTCTGTGCATATTATAGTTCAAAGCAAGTACCATTCAATTAATGTTATTTTTAGTGAAAAATTCTTTTATTTTATCGTCCGGGATTTTTCCGACTTGACTTTCAGTTCTggg > 1:691182/1‑149 (MQ=255) gAGGTTTTGCTGCATTCTCTGAGCGAATATTAACTCTGTGCATATTATAGTTCAAAGCAAGTACCATTCAATTAATGTTATTTTTAGTGAAAAATTCTTTTATTTTATCGTCCGGGATTTTTCCGACTTGACTTTCAGTTCTGGGCTTa > 1:132432/1‑149 (MQ=255) ggTTTTGCTGCATTCTCTGAGCGAATATTAACTCTGTGCATATTATAGTTCAAAGCAAGTACAATTCAATTAATGTTATTTTTAGTGAAAAATTCTTTTATTTTATCGTACGGGATTTTTGCGACTTGATTTTTAGTTTTGGGATTAAc > 2:712507/1‑149 (MQ=255) tttGCTGCATTCTCTGAGCGAATATTAACTCTGTGCATATTATAGTTCAAAGCAAGTACCATTCAATTAATGTTATTTTTAGTGAAAAATTCTTTTATTTTATCGTCCGTGATTTTTCCGACTTGACTTTCATTTCTTGGCTTAACTGt > 2:240761/1‑149 (MQ=255) tgcATTCTCTGAGCGAATATTAACTCTGTGCATATTATAGTTCAAAGCAAGTACCATTCAATTAATGTTGTTTTTAGTGAAAAATTCTTTTATTTTATCGTCCGGGATTTTTCCGACTAGACTTTCAGTTTCGGGCTTAATTGTcaaag > 1:727278/1‑149 (MQ=255) tgcATTCTCTGAGCGAATATTAACTCTGTGCATATTATAGTTCAAAGCAAGTACCATTCAATTAATGTTATTTTTAGTGAAAAATTCTTTTATTTTATCGTCCGGGATTTTTCCGACTTGACTTTCAGTTCTGGGCTTAACTGTcaaag > 1:806560/1‑149 (MQ=255) aTTCTCTGAGCGAATATTAACTCTGTGCATATTATAGTTCAAAGCAAGTACCATTCAATTAATGTTATTTTTAGTGAAAAATTCTTTTATTTTATCGTCCGGGATTTTTCCGACTTGACTTTCAGTTCTGGGCTTAACTGTcaaagcaa < 1:633652/149‑1 (MQ=255) ttCTCTGAGCGAATATTAACTCTGTGCATATTATAGTTCAAAGCAAGTACCATTCAATTAATGTTATTTTTAGTGAAAAATTCTTTTATTTTATCGTCCGGGATTTTTCCGACTTGACTTTCAGTTCTGGGCTTAACTGTcaaagcaaa < 1:838779/149‑1 (MQ=255) ttCTCTGAGCGAATATTAACTCTGTGCATATTATAGTTCAAAGCAAGTACCATTCAATTAATGTTATTTTTAGTGAAAAATTCTTTTATTTTATCGTCCGGGATTTTTCCGACTTGACTTTCAGTTCTGGGCTTAACTGTcaaagcaaa < 2:892710/149‑1 (MQ=255) ctctGAGCGAATATTAACTCTGTGCATATTATAGTTCAAAGCAAGTACCATTCAATTAATGTTATTTTTAGTGAAAAATTCTTTTATTTTATCGTCCGGGATTTTTCCGACTTGACTTTCAGTTCTGGGCTTAACTGTCAAAGCAAAGa < 2:806560/149‑1 (MQ=255) tAACTCTGTGCATATTATAGTTCAAAGCAAGTACCATTCAATTAATGTTATTTTTAGTGAAAAATTCTTTTATTTTATCGTCCGGGATTTTTCCGACTTGACTTTCAGTTCTGGGCTTAACTGTCAAAGCAAAGATAATACcactcact < 1:955691/149‑1 (MQ=255) ctctGTGCATATTATAGTTCAAAGCAAGTACCATTCAATTAATGTTATTTTTAGTGAAAAATTCTTTTATTTTATTGTCCGGGATTTTTCCGACTTGACTTTCAGGTCTGGGCTTAACTGTCAAAGCAAAGATAATACCACTCACTgag > 2:917008/1‑149 (MQ=255) | CTGATTAATTCATCAGAATATCTAAGTTTTCCGCAGCCAAAATCAAGGGCGTGGCCATTTTTCTCAATGCTTCTAATATACTCGCAAAGATATCTAGAGGGCATCGTATGAGGTTTTGCTGCATTCTCTGAGCGAATATTAACTCCGTGCATATTATAGTTCAAAGCAAGTACCATTCAATTAATGTTATTTTTAGTGAAAAATTCTTTTATTTTATCGTCCGGGATTTTTCCGACTTGACTTTCAGTTCTGGGCTTAACTGTCAAAGCAAAGATAATACCACTCACTGAG > NC_000913_3_hsa_tpiA/1197357‑1197647 |
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 < 32 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |