Predicted mutation | |||||||
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evidence | seq id | position | mutation | freq | annotation | gene | description |
RA | NC_002947 | 1,825,092 | G→C | 10.5% | A54A (GCC→GCG) | mutS ← | DNA mismatch repair protein MutS |
Read alignment evidence... | |||||||||||
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seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
* | NC_002947 | 1,825,092 | 0 | G | C | 10.5% | 129.7 / 5.2 | 46 | A54A (GCC→GCG) | mutS | DNA mismatch repair protein MutS |
Reads supporting (aligned to +/- strand): ref base G (19/21); new base C (2/3); total (21/25) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.78e-01 |
CACCGGGCCCTTGCTGGTGGCGGGGTCGCCGATCTGCTCACAGATCACCACCGACTCGCCGAGCTTGACCAGCTTGGCCAGGTAGCCTTCCAGCGAATGGAACGGAATCCCGCACATGGGGATGGACTGGCCGGCCGACTGACCGCGGGCGGTCAGGGTGATATCCAGCAGTTTCGCGGCCTTTTTCGCATCTTCGTAGAAGATCTCGTAGAAGTCGCCCATGCGGTAGAACATCAGCTGGTCCGGGTGCTGGTTTTTCAGCTTCCAGTACTGCTGCATCATCGGGGTGTGTGCGG > NC_002947/1824945‑1825240 | cACCGGGCAATTGCTGGTGGCGGGGTCGCCGATCTGCTCACAGATCACCAAAGACTCGCAGAGCTTGACCAGCTTCGCCAGGTAGCCTTCCAGCGAATGGAACGGAATCCAGCACATGGGGATGGACTGGCCGGCCGACTGAACgcggg > 4:143552/1‑149 (MQ=255) cTTGCTGGTGGCGGGGTCGCCGATCTGCTCACAGATCACCACCGACTCGCCGAGCTTGACCAGCTTGGCCAGGTAGCCTTCCAGCGAATGGAACGGAATCCCGCACATGGGGATGGACTGGCCGGCCGACTGACCGCCCGCGGTCAgtc < 6:155914/149‑3 (MQ=255) gtggCGGGGTCGCCGATCTGCTCACAGATCACCACCGACTCGCCGAGCTTGACCAGCTTGGCCAGGTAGCCTTCCAGCGAATGGAACGGAATCCCGCACATGGGGATGGACTGGCCGGCCGACTGACCGCGGGCGGTCAGGGTGata < 5:268589/147‑1 (MQ=255) tggCGGGGTCGCCGATCTGCTCACAGATCACCACCGACTCGCCGAGCTTGACCAGCTTGGCCAGGTAGCCTTCCAGCGAATGGAACGGAATCCCGCACATGGGGATGGACTGGCCGGCCGACTGACCGCGGGCGGTCAGGGTGATATcc < 2:25871/149‑1 (MQ=255) gCGGGGTCGCCGATCTGCTCACAGATCACCACCGACTCGCCGAGCTTGACCAGCTTGGCCAGGTAGCCTTCCAGCGAATGGCACGGAATCCCGCACATGGGGATGGACTGGCCGGCCGACTGACCGCGGGCGGTCAGGGTGATATCcag < 4:19384/149‑1 (MQ=255) ggggTCGCCGATCTGCTCACAGATCACCACCGACTCGCCGAGCTTGACCAGCTTGGCCAGGTAGCCTTCCAGCGAATGGAACGGAATCCCGCACATGGGGATGGACTGGCCGGCCGACTGACCGCGGGCGGTCAGGGTGATATCcagca < 2:208062/149‑1 (MQ=255) gCCGATCTGCTCACAGATCACCACCGACTCGCCGAGCTTGACCAGCTTGGCCAGGTAGCCTTCCAGCGAATGGAACGGAATCCCGCACATGGGGATGGACTGGCCGGCCGACTGACCGCGGGCGGTCAGGGTGATATCCAGCAGTTTcg < 8:32076/149‑1 (MQ=255) gCCGATCTGCTCACAGATCACCACCGACTCGCCGAGCTTGACCAGCTTGGCCAGGAAGCCTTCCAGCGAATGGAACGGAATCCCGCACATGGGGATGGACTGGCCGGCCGACTGCCCGCGGGCGGTCAGGGTGATATCCAGCAGTTTcg > 5:256226/1‑149 (MQ=255) gATCTGCTCACAGATCACCACCGACTCGCCGAGCTTGACCAGCTTGGCCAGGTAGCCTTCCAGCGAATGGAACGGAATCCCGCACATGGGGATGGACTGGCCGGCCGACTGACCGCGGGCGGTCAGGGTGATATCcagca > 3:146156/1‑140 (MQ=255) gATCTGCTCACAGATCACCACCGACTCGCCGAGCTTGACCAGCTTGGCCAGGTAGCCTTCCAGCGAATGGAACGGAATCCCGCACATGGGGATGGACTGGCCGGCCGACTGACCGCGGGCGGTCAGGGTGATATCcagca < 4:146156/140‑1 (MQ=255) tCACAGATCACCACCGACTCGCCGAGCTTGACCAGCTTGGCCAGGTAGCCTTCCAGCGAATGGAACGGAATCCCGCACATGGGGATGGACTGGCCGGCCGACTGACCGCGGGCGGTCAGGGTGATATCcagc > 2:77848/1‑132 (MQ=255) tCACAGATCACCACCGACTCGCCGAGCTTGACCAGCTTGGCCAGGTAGCCTTCCAGCGAATGGAACGGAATCCCGCACATGGGGATGGACTGGCCGGCCGACTGACCGCCCGCGGTCAgt < 5:301698/120‑2 (MQ=255) tCACAGATCACCACCGACTCGCCGAGCTTGACCAGCTTGGCCAGGTAGCCTTCCAGCGAATGGAACGGAATCCCGCACATGGGGATGGACTGGCCGGCCGACTGACCGCCCGCGGTCAgt > 6:301698/1‑119 (MQ=255) acaGATCACCACCGACTCGCCGAGCTTGACCAGCTTGGCCAGGTAGCCTTCCAGCGAATGGAACGGAATCCCGCACATGGGGATGGACTGGCCGGCCGACTGACCGCGGGCGGTCAGGGTGATATCCAGCAGTTTCGCGGCCTTTTTCg > 6:37124/1‑149 (MQ=255) aGATCACCACCGACTCGCCGAGCTTGACCAGCTTGGCCAGGTAGCCTTCCAGCGAATGGAACGGAATCCCGCACATGGGGATGGACTGGCCGGCCGACTGACCGCGGGCGGTCAGGGTGATATCCAGCAGTTTCGCGGCCTTTTTCGCa > 3:139024/1‑149 (MQ=255) gACTCGCCGAGCTTGACCAGCTTGGCCAGGTAGCCTTCCAGCGAATGGAACGGAATCCCGCACATGGGGATGGACTGGCCGGCCGACTGACCGCGGGCGGTCAGGGTGATATCCAGCAGTTTCGCGGCCTTTTTCGCATCTTCGTagaa < 5:37124/149‑1 (MQ=255) gCTTGACCAGCTTGGCCAGGTAGCCTTCCAGCGAATGGAACGGAATCCCGCACATGGGGATGGACTGGCCGGCCGACTGACCGCGGGCGGTCAGGGTGATATCCAGCAGTTTCGCGGCCTTTTTCGCATCTTCGTAGAAGATCTCg > 8:273401/1‑146 (MQ=255) gCTTGACCAGCTTGGCCAGGTAGCCTTCCAGCGAATGGAACGGAATCCCGCACATGGGGATGGACTGGCCGGCCGACTGACCGCGGGCGGTCAGGGTGATATCCAGCAGTTTCGCGGCCTTTTTCGCATCTTCGTAGAAGATCTCGTAg < 7:128699/149‑1 (MQ=255) cTTGACCAGCTTGGCCAGGTAGCCTTCCAGCGAATGGAACGGAATCCCGCACATGGGGATGGACTGGCCGGCCGACTTTCCCCGGGCGGTCAGGGTGATATACAGCAGTTTGGCGGGCTTTTTAGCATCTTCGTTGAAGATCTCGTAg > 5:51434/1‑148 (MQ=255) cTTGACCAGCTTGGCCAGGTAGCCTTCCAGCGAATGGAACGGAATCCCGCACATGGGGATGGACTGGCCGGCCGACTGACCGCGGGCGGTCAGGGTGATATCCAGCAGTTTCGCGGCCTTTTTCGCATCTTCGTAGAAGATCTCGTAg > 6:8495/1‑148 (MQ=255) gACCAGCTTGGCCAGGTAGCCTTCCAGCGAATGGAACGGAATCCCGCACATGGGGATGGACTGGCCGGCCGACTGACCGCGGGCGGTCAGGGTGATATCCAGCAGTTTCGCGGCCTTTTTCGCATCTTCGTAGAAGATCTCGTAGaa < 6:187719/147‑1 (MQ=255) cAGCTTGGCCAGGTAGCCTTCCAGCGAATGGAACGGAATCCCGCACATGGGGATGGACTGGCCGGCAGACTGACCGCGGCCGGTCAGGGTGATATCCAGCAGGTTCGCGGCCTTTTTCGCATCTTCGTAGAAGATCTCGTAGAAGTCGc > 5:155858/1‑149 (MQ=255) cAGGTAGCCTTCCAGCGAATGGAACGGAATCCCGCACATGGGGATGGACTGGCCGGCCGACTGACCGCGGGCGGTCAGGGTGATATCCAGCAGTTTCGCGGCCTTTTTCGCATCTTCGTAGAAGATCTCGTAGAAGTCGCCCATGCgg > 7:42374/1‑148 (MQ=255) taaccTTCCAGCGAATGGAACGGCATCCCGCACATGGTGATGGACTGGCCGGCAGACTTACCGCGGGCGGTCAGGGTTATATCCAGCAGTTTCGCGGCCTTTTTCGCATCTTCGTAGAAGATCTCGTAGAAGTCGCCCATGCGGTAGaa < 4:185836/146‑1 (MQ=255) tGGAACGGAATCCCGCACATGGGGATGGACTGGCCGGCCGACTGACCGCGGGCGGTCAGGGTGATATCCAGCAGTTTCGCGGCCTTTTTCGCATCTTCGTAGAAGATCTCGTAGAAGTCGCCCATGCGGTAGAACATCAGCTGGTCCgg < 5:8495/149‑1 (MQ=255) aaCGGAATCCCGCACATGGGGATGGACTGGCCGGCCGACTGACCGCGGGCGGTCAGGGTGATATCCAGCAGTTTCGCGGCCtt > 2:204362/1‑83 (MQ=255) aaCGGAATCCCGCACATGGGGATGGACTGGCCGGCCGACTGACCGCGGGCGGTCAGGGTGATATCCAGCAGTTTCGCGGCCtt < 1:204362/83‑1 (MQ=255) aaCGGAATCCCGCACATGGGGATGGACTGGCCGGCCGACTGACCGCGGGCGGTCAGGGTGATATCCAGCAGTTTCGCGGCCTTTTTc < 5:290230/87‑1 (MQ=255) aaCGGAATCCCGCACATGGGGATGGACTGGCCGGCCGACTGACCGCGGGCGGTCAGGGTGATATCCAGCAGTTTCGCGGCCTTTTTc > 6:290230/1‑87 (MQ=255) ggAATCCCGCACATGGGGATGGACTGGCCGGCCGACTGACCGCGGGCGGTCAGGGTGATATCCAGCAGTTTCGCGGCCTTTTTCGCATCTTCGTAGAAGATCTCGTAGAAGTCGCCCATGCGGTAGAACATCAGCTGGTCCGGGTGCTg > 5:162453/1‑149 (MQ=255) ggAATCCCGCACATGGGGATGGACTGGCCGGCCGACTGACCGCGGGCGGTCAGGGTGATATCCAGCAGTTTCGCGGCCTTTTTCGCATCTTCGTAGAAGATCTCGTAGAAGTCGCCCATGCGGTAGAACATCAGCTGGTCCGGGTGCTg < 7:273401/149‑1 (MQ=255) gAATCCCGCACATGGGGATGGACTGGCCGGCCGACTGACCGCGGGCGGTCAGGGTGATATCCAGCAGTTTCGCGGCCTTTTTCGCATCTTCGTAGAAGATCTCGTAGAAGTCGCCCATGCGGTAGAACATCAGCTGGTCCGGGTGCTgg < 6:121328/149‑1 (MQ=255) aaTCCCGCACATGGGGATGGACTGGCCGGCCGACTGACCGCGGGCGGTCAGGGTGATATCCAGCAGTTTCGCGGCCTTTTTCGCATCTTCGTAGAAGATCTCGTAGAAGTCGCCCATGCGGTAGCACATCAGCTGGTCCGGGTGCTGGt < 6:256226/149‑1 (MQ=255) cGCACATGGGGATGGACTGGCCGGCCGACTGACCGCGGGCGGTCAGGGTGATATCCAGCAGTTTCGCGGCCTTTTTCGCATCTTCGTAGAAGATCTCGTAGAAGTCGCCCATGCGGTAGAACATCAGCTGGTCCGGGTGCTGGTTTTTc < 3:63028/149‑1 (MQ=255) cGCACATGGGGATGGACTGGCCGGCAGACTGACCGCGGGCGGTCAGGGTGATATCCAGCAGTTTCGCGGCCTTTTTCGCATCTTCGTAGAAGATCTCGTAGAAGTCGCCCATGCGGTAGAACATCAGCTGGTCCGGGTGCTGGTTTTTc < 6:155858/149‑1 (MQ=255) tGGGGATGGACTGGCCGGCCGACTGACCGCGGGCGGTCAGGGTGATATCCAGCAGTTTCGCGGCCTTTTTCGCATCTTCGTAGAAGATCTCGTAGAAGTCGCCCATGCGGTAGAACATCAGCTGGTCCGGGTGCTGGTTTTTCAGCTTc > 4:45748/1‑149 (MQ=255) aTGGACTGGCCGGCCGACTGACCGCGGGCGGTCAGGGTGATATCCAGCAGTTTCGCGGCCTTTTTCGCATCTTCGTAGAAGATCTCGTAGAAGTCGCCCATGCGGTAGAACATCAGCTGGTCCGGGTGCTGGTTTTTCAGCTTCCa > 8:217075/1‑146 (MQ=255) aTGGACTGGCCGGCCGACTGACCGCGGGCGGTCAGGGTGATATCCAGCAGTTTCGCGGCCTTTTTCGCATCTTCGTAGAAGATCTCGTAGAAGTCGCCCATGCGGTAGAACATCAGCTGGTCCGGGTGCTGGTTTTTCAGCTTCCa < 7:217075/146‑1 (MQ=255) tGGCCGGCCGACTGACCGCGGGCGGTCAGGGTGATATCCAGCAGTTTCGCGGCCTTTTTCGCATCTTCGTAGAAGATCTCGTAGAAGTCGCCCATGCGGTAGAACATCAGCTGGTCCGGGTGCTGGTTTTTCAGCTTCCAGTActgctg > 5:11430/1‑149 (MQ=255) gccggccgACTGTCCGCGTGCGGTCAGGGTGATATCCAGCAGTTTCGCGGCCTTTTTCGCATCTTCTTAGAAGATCTCGTAGAAGTCGACCATGCGGTAGAACATCAGCTGGTCCGGGTGCTGGTTTTTCAGCTTCCAGTACTGCTGca < 3:143552/149‑1 (MQ=255) cggccgACTGACCGCGGGCGGTCAGGGTGATATCCAGCAGTTTCGCGGCCTTTTTCGCATCTTCGTAGAAGATCTCGTAGAAGTCGCCCATGCGGTAGAACATCAGCTGGTCCGGGTGCTGGTTTTTCAGCTTCCAGTACTGCTGcatc < 8:42374/149‑1 (MQ=255) gccgACTGACCGCGGGCGGTCAGGGTGATATCCAGCAGTTTCGCGGCCTTTTTCGCATCTTCGTAGAAGATCTCGTAGAAGTCGCCCATGCGGTAGAACATCAGCTGGTCCGGGTGCt > 2:245234/1‑118 (MQ=255) gccgACTGACCGCGGGCGGTCAGGGTGATATCCAGCAGTTTCGCGGCCTTTTTCGCATCTTCGTAGAAGATCTCGTAGAAGTCGCCCATGCGGTAGAACATCAGCTGGTCCGGGTGCt < 1:245234/118‑1 (MQ=255) gccgACTGACCGCGGGCGGTCAGGGTGATATCCAGCAGTTTCGCGGCCTTTTTCGCATCTTCGTAGAAGATCTCGTAGAAGTCGCCCATGCGGTAGAACATCAGCTGGTCCGGGTGCTGGTTTTTCAGCTTCCAGTACTGCTGcatcat > 8:113569/1‑149 (MQ=255) gACTGACCGCGGGCGGTCAGGGTGATATCCAGCAGTTTCGCGGCCTTTTTCGCATCTTCGTAGAAGATCTCGTAGAAGTCGCCCATGCGGTAGAACATCAGCTGGTCCGGGTGCTGGTTTTTCAGCTTCCAGTACTGCTGCATCATCgg > 2:289611/1‑149 (MQ=255) ccTGACCGCCCGCGGTCAGGGTGATATCCAGCAGTTTCGCGGCCTTTTTCGCATCTTCGTAGAAGATCTCGTAGAAGTCGCCCATGCGGTAGAACATCAGCTGGTCCGGGTGCTGTTTTTTCAGCTTCCAGTACtgctgc < 7:192262/139‑1 (MQ=255) ccTGACCGCCCGCGGTCAGGGTGATATCCAGCAGTTTCGCGGCCTTTTTCGCATCTTCGTAGAAGATCTCGTAGAAGTCGCCCATGCGGTAGAACATCAGCTGGTCCGGGTGCTGGTTTTTCAGCTTCCAGTACtgctgc > 8:192262/2‑140 (MQ=255) cgggcggTCAGGGTGATATCCAGCAGTTTCGCGGCCTTTTTCGCATCTTCGTAGAAGATCTCGTAGAAGTCGCCCATGCGGTAGAACATCAGCTGGTCCGGGTGCTGGTTTTTCAGCTTCCAGTACTGCTGCATCATCGGGGTGTGTGc < 6:162453/149‑1 (MQ=255) ggctgTCAGGGTGATATCCAGCAGTTTCGCGGCCTTTTTCGCATCTTCGTAGAAGATCTCGTAGAAGTCGCCCATGCGGTAGAACATCAGCTGGTCCGGGTGCTGGTTTTTCAGCTTCCAGTACTGCTGCATCATCGGGGTGTGTGCgg < 3:45748/149‑1 (MQ=255) | CACCGGGCCCTTGCTGGTGGCGGGGTCGCCGATCTGCTCACAGATCACCACCGACTCGCCGAGCTTGACCAGCTTGGCCAGGTAGCCTTCCAGCGAATGGAACGGAATCCCGCACATGGGGATGGACTGGCCGGCCGACTGACCGCGGGCGGTCAGGGTGATATCCAGCAGTTTCGCGGCCTTTTTCGCATCTTCGTAGAAGATCTCGTAGAAGTCGCCCATGCGGTAGAACATCAGCTGGTCCGGGTGCTGGTTTTTCAGCTTCCAGTACTGCTGCATCATCGGGGTGTGTGCGG > NC_002947/1824945‑1825240 |
Alignment Legend |
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Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 14 ≤ ATCG/ATCG < 21 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 36 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |