Predicted mutation | ||||||
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evidence | seq id | position | mutation | annotation | gene | description |
RA | NC_000913_3_hsa_tpiA | 1,544,022 | 1 bp→AA | coding (39/1389 nt) | narU ← | nitrate/nitrite transporter |
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 | 1,544,021 | 1 | . | A | 75.8% | 84.7 / 22.7 | 33 | coding (40/1389 nt) | narU | nitrate/nitrite transporter |
Reads supporting (aligned to +/- strand): ref base . (5/3); new base A (13/12); total (18/15) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 6.99e-01 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.00e+00 | |||||||||||
* | NC_000913_3_hsa_tpiA | 1,544,022 | 0 | C | A | 100.0% | 104.5 / NA | 33 | L13F (TTG→TTT) | narU | nitrate/nitrite transporter |
Reads supporting (aligned to +/- strand): ref base C (0/0); new base A (18/15); total (18/15) |
AGATTAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑G‑C‑AA‑AAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAGTGCTGATTGAAA > NC_000913_3_hsa_tpiA/1543882‑1544170 ||| agaTTAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑G‑A‑aa‑aaagat > 2:564161/1‑145 (MQ=255) aatAACGATAAATGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGAAAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑AA‑AAGATaa < 2:200196/147‑1 (MQ=255) ttAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTGGC‑GAA‑AA‑AAGATAAc > 1:593698/1‑149 (MQ=255) tGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑AA‑AAGATAACGACTATTTTtc > 1:155094/1‑149 (MQ=255) gcTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGTCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑AA‑AAGATAACGACTATTTTTCTCa > 2:555286/1‑149 (MQ=255) gcTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTGTCCTTTATTTTCCAAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑AA‑AAGATAAAGACTATTTTTCTCa > 2:592759/1‑149 (MQ=255) cTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑AA‑AAGATAACGACTATTTTTCTCAt < 1:243241/149‑1 (MQ=255) aGCAACAAGAAAAAGAAGGAAAGAAGTAGAAAACTGAATGATAACAAAAGATTTTTTCGAGCAATATGTTTTCCCTTATTTTCCCAGAAGGCCGGATTTTCTTGTTTCCAGTCGC‑GAA‑AA‑AAGATAACGACTATAATTCTCATTTTGCa < 2:155094/149‑1 (MQ=255) aTCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑AA‑AAGATAACGACTATTTTTCTCATTTTGCAGTg < 1:564161/149‑1 (MQ=255) aaGGCAAGAAGTACACAACCGACTGATAACCAGAGATTTCTTCGAGCAATATGTTTTCCTGTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAATCGC‑G‑AAAA‑AAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTcc < 2:584071/149‑1 (MQ=255) tcAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGATCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGCCGC‑GAA‑AA‑AAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTca < 1:927019/148‑1 (MQ=255) gCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑AA‑AAGATAACGACTATTTTTCTCATTTTCCAGTGCCATATTGTTCCTca > 2:405659/1‑149 (MQ=255) agaagTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑AA‑AAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACAt < 1:353208/149‑1 (MQ=255) agaagTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑AA‑AAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACAt < 2:115866/149‑1 (MQ=255) gTAGACAACTGACTGATATCCATAGATTGCTTCGAGCAATATTTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑AA‑AAGATAACGACTATTTTTCTCATTTTGCAGTGCCATCTAGTTCTTcacagccac < 2:258093/149‑6 (MQ=255) gTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑AA‑AAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGcac < 1:927690/149‑1 (MQ=255) gaTATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑AA‑AAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGaa > 1:295906/1‑149 (MQ=255) gagaTTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑AA‑AAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGAc > 2:613672/1‑149 (MQ=255) aTTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑G‑AAAA‑AAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACaaa > 2:29517/1‑149 (MQ=255) cttcGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑G‑AAAA‑AATATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAacac > 2:980865/1‑149 (MQ=255) gAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑AA‑AAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAgg > 1:464096/1‑149 (MQ=255) ggattttACTTTACTGGCCCGGTAGGTAGGTTTTTCTGGTGTCCAGTCACTA‑A‑AA‑AAGATAACGACTTTTTTTCTAATTATGGAGTGCCACATTGTCCCTCACATGCACACTTTAGTAATGATGAAAAGACAAAACACGAGGTAAGgcg < 2:609647/146‑1 (MQ=255) atGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑AA‑AAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGgcg > 2:257274/1‑149 (MQ=255) cTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑AA‑AAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGCAAGGCGCAATAGcc > 2:932324/1‑149 (MQ=255) tttATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑AA‑AAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACAAGAGGTAAGGCGCAATAGCCa > 1:739872/1‑149 (MQ=255) tCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGT‑GAA‑AA‑AATATAACGACTATGTTTCTCATTTTGCAGTGACATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGttatta < 2:967943/149‑1 (MQ=255) cAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑AA‑AAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGaa < 1:279345/149‑1 (MQ=255) cAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑GAA‑AA‑AAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGaa < 2:732692/149‑1 (MQ=255) accGGATTTTCTGGTTTCCAGTCGC‑G‑AAAA‑AAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTGCCTCACATGCACAGATTAGTAATGAAAAAAAGACAAAACGCGAGGTAAGGCGCAATAGCATGTTATTAGAATTAAgg > 2:912568/2‑149 (MQ=255) ggATTTTCTGGTTTCCAGTCGC‑GAA‑AA‑AAGATAACGACTATTTTTCTCATTTTGCAGTGCCATAATGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATg > 1:860303/1‑149 (MQ=255) aTTTTCTGGTTTCCAGTCGC‑GAA‑AA‑AAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGac > 2:102228/1‑148 (MQ=255) tGGTTTCCAGTCGCGG‑A‑AA‑AAGATAACGACTATTTTTCTCATTGTGCAGTGCCATATGGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGt > 2:733703/1‑149 (MQ=255) ctCCAGTAGC‑G‑A‑AATAAGACAACGTATATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAg < 1:805511/148‑1 (MQ=255) gcgaaaa‑aaGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAGTGCTGAtt < 1:555286/144‑1 (MQ=255) aaa‑aaGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAGTGCTGATTGaaa < 2:593698/148‑1 (MQ=255) ||| AGATTAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGC‑G‑C‑AA‑AAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAGTGCTGATTGAAA > NC_000913_3_hsa_tpiA/1543882‑1544170 |
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: ‑ |