Predicted mutation | ||||||
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evidence | seq id | position | mutation | annotation | gene | description |
RA | NC_000913 | 499,014 | C→T | R320R (CGC→CGT) *320* (TAG→TAA) |
hemH → aes ← |
ferrochelatase acetyl esterase |
Read alignment evidence... | |||||||||||
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seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
* | NC_000913 | 499,014 | 0 | C | T | 98.2% | 174.9 / NA | 57 | R320R (CGC→CGT) *320* (TAG→TAA) | hemH aes | ferrochelatase acetyl esterase |
Reads supporting (aligned to +/- strand): ref base C (1/0); new base T (30/26); total (31/26) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.99e-01 |
CTGGAAGAGATTGCCGAGCAAAACCGTGAGGTCTTCCTCGGTGCCGGCGGGAAAAAATATGAATATATTCCGGCGCTTAATGCCACGCCGGAACATATCGAAATGATGGCTAATCTTGTTGCCGCGTATCGCTAAAGCTGAGCGGTAAAGAACTGAGCGCCGTCGCGAAGAGCCTCGTCGGCGGTTTTCATCATCCGTGAATAATGCAAAAAGGCGTGCAGCGTGCCTGGGTAGAGTTTGAACTCACAGGGCTGCTGATGCG > NC_000913/498883‑499144 | cTGGAAGAGATTGCCGAGCAAAACCGTGAGGTCTTCCTCGGTGCCGGCGGGAAAAAATATGAATATATTCCGGCGCTTAATGCCACGCCGGAACATATCGAAATGATGGCTAATCTTGTTGCCGCGTATCGTTAAAGCt < 2:829493/139‑1 (MQ=255) gAAGAGATTGCCGAGCAAAACCGTGAGGTCTTCCTCGGTGCCGGCGGGAAAAAATATGAATATATTCCGGCGCTTAATGCCACGCCGGAACATATCGAAATGATGGCTAATCTTGTTGCCGCGTATCGTTAAAGCTGAg < 1:214135/139‑1 (MQ=255) gAAGAGATTGCCGAGCAAAACCGTGAGGTCTTCCTCGGTGCCGGCGGGAAAAAATATGAATATATTCCGGCGCTTAATGCCACGCCGGAACATATCGAAATGATGGCTAATCTTGTTGCCGCGTATCGTTAAAGCTGAg < 2:717429/139‑1 (MQ=255) aTTGCCGAGCAAAACCGTGAGGTCTTCCTCGGTGCCGGCGGGAAAAAATATGAATATATTCCGGCGCTTAATGCCACGCCGGAACATATCGAAATGATGGCTAATCTTGTTGCCGCGTATCGTTAAAGCTGAGCGGTaa > 2:82724/1‑139 (MQ=255) aGGTCTTCCTCGGTGCCGGCGGGAAAAAATATGAATATATTCCGGCGCTTAATGCCACGCCGGAACATATCGAAATGATGGCTAATCTTGTTGCCGCGTATCGTTAAAGCTGAGCGGTaaa > 1:647667/1‑121 (MQ=255) aGGTCTTCCTCGGTGCCGGCGGGAAAAAATATGAATATATTCCGGCGCTTAATGCCACGCCGGAACATATCGAAATGATGGCTAATCTTGTTGCCGCGTATCGTTAAAGCTGAGCGGTaaa < 2:647667/121‑1 (MQ=255) tCTTCCTCGGTGCCGGCGGGAAAAAATATGAATATATTCCGGCGCTTAATGCCACGCCGGAACATATCGAAATGATGGCTAATCTTGTTGCCGCGTATCGTTAAAGCTGAGCGGTAAAGAACTGAGCGCCGTCGCGAag > 1:568554/1‑139 (MQ=255) cggGAAAATATATGAATATATTCCAGCGGTTAATGCCACGCCGGAACATATCGAAATGATGGCTAATCTTGTTGCCGCGTATCGCTTAAGCTGAGCGGTAAAGAACTGAGCGCCGTCGCGAAGAGCCTCGTAGGCGGtt > 2:40149/1‑139 (MQ=255) tCCGGCGCTTAATGCCACGCCGGAACATATCGAAATGATGGCTAATCTTGTTGCCGCGTATCGTTAAAGCTGAGCGGTAAAGAACTGAGCGCCGTCGCGAAGAGCCTCGTCGGCGGTTTTCATCATCCGTGaa > 1:727807/1‑133 (MQ=255) tCCGGCGCTTAATGCCACGCCGGAACATATCGAAATGATGGCTAATCTTGTTGCCGCGTATCGTTAAAGCTGAGCGGTAAAGAACTGAGCGCCGTCGCGAAGAGCCTCGTCGGCGGTTTTCATCATCCGTGaa < 2:727807/133‑1 (MQ=255) gcgcTTAATGCCACGCCGGAACATATCGAAATGATGGCTAATCTTGTTGCCGCGTATCGTTAAAGCTGAGCGGTAAAGAACTGAGCGCCGTCGCGAAGAGCCTCGTCGGCGGtt > 1:229679/1‑114 (MQ=255) gcgcTTAATGCCACGCCGGAACATATCGAAATGATGGCTAATCTTGTTGCCGCGTATCGTTAAAGCTGAGCGGTAAAGAACTGAGCGCCGTCGCGAAGAGCCTCGTCGGCGGtt < 2:229679/114‑1 (MQ=255) gcgcTTAATGCCACGCCGGAACATATCGAAATGATGGCTAATCTTGTTGCCGCGTATCGTTAAAGCTGAGCGGTAAAGAACTGAGCGCCGTCGCGAAGAGCCTCGTCGGCGGTTTtcat < 2:487271/119‑1 (MQ=255) gcgcTTAATGCCACGCCGGAACATATCGAAATGATGGCTAATCTTGTTGCCGCGTATCGTTAAAGCTGAGCGGTAAAGAACTGAGCGCCGTCGCGAAGAGCCTCGTCGGCGGTTTtcat > 1:487271/1‑119 (MQ=255) cgcTTAATGCCACGCCGGAACATATCGAAATGATGGCTAATCTTGTTGCCGCGTATCGTTAAAGCTGAGCGGTAAAGAACTGAGCGCCGTCGCGAAGAGCCTCGTCGGCGGTTTtcat > 2:1097776/1‑118 (MQ=255) cgcTTAATGCCACGCCGGAACATATCGAAATGATGGCTAATCTTGTTGCCGCGTATCGTTAAAGCTGAGCGGTAAAGAACTGAGCGCCGTCGCGAAGAGCCTCGTCGGCGGTTTtcat < 1:1097776/118‑1 (MQ=255) cTTAATGCCACGCCGGAACATATCGAAATGATGGCTAATCTTGTTGCCGCGTATCGTTAAAGCTGAGCGGTAAAGAACTGAGCGCCGTCGCGAAGAGCCTCGTCGGCGGTTTTCATCATCCGTGAATAATGCaaa < 2:407049/135‑1 (MQ=255) cTTAATGCCACGCCGGAACATATCGAAATGATGGCTAATCTTGTTGCCGCGTATCGTTAAAGCTGAGCGGTAAAGAACTGAGCGCCGTCGCGAAGAGCCTCGTCGGCGGTTTTCATCATCCGTGAATAATGCaaa > 1:407049/1‑135 (MQ=255) cTTAATGCCACGCCGGAACATATCGAAATGATGGCTAATCTTGTTGCCGCGTATCGTTAAAGCTGAGCGGTAAAGAACTGAGCGCCGTCGCGAAGAGCCTCGTCGGCGGTTTTCATCATCCGTGAATAATGCAAAAAgg > 1:355445/1‑139 (MQ=255) ccACGCCGGAACATATCGAAATGATGGCTAATCTTGTTGCCGCGTATCGTTAAAGCTGAGCGGTAAAGAACTGAGCGCCGTCGCGAAGAGCCTCGTCGGCGGTTTTCATCATCCGTGAATAATGCAAAAAGGCGTGCAg < 2:355445/139‑1 (MQ=255) cGCCGGAACATATCGAAATGATGGCTAATCTTGTTGCCGCGTATCGTTAAAGCTGAGCGGTAAAGAACTGAGCGCCGTCGCGAAGAGCCTCGTCGGCGGTTTTCATCATCCGTGAATAATGCAAAAAGGCGTGCAg < 2:340713/136‑1 (MQ=255) cGCCGGAACATATCGAAATGATGGCTAATCTTGTTGCCGCGTATCGTTAAAGCTGAGCGGTAAAGAACTGAGCGCCGTCGCGAAGAGCCTCGTCGGCGGTTTTCATCATCCGTGAATAATGCAAAAAGGCGTGCAg > 1:340713/1‑136 (MQ=255) gCCGGAACATATCGAAATGATGGCTAATCTTGTTGCCGCGTATCGTTAAAGCTGAGCGGTAAAGAACTGAGCGCCGTCGCGAAGAGCCTCGTCGGCGGTTTTCATCATCCGTGAATAATGCAAAAAGGCGTGCAGCGTg < 2:1151637/139‑1 (MQ=255) gAACATATCGAAATGATGGCTAATCTTGTTGCCGCGTATCGTTAAAGCTGAGCGGTAAAGAACTGAGCGCCGTc < 1:567874/74‑1 (MQ=255) gAACATATCGAAATGATGGCTAATCTTGTTGCCGCGTATCGTTAAAGCTGAGCGGTAAAGAACTGAGCGCCGTc > 2:567874/1‑74 (MQ=255) tatCGAAATGATGGCTAATCTTGTTGCCGCGTATCGTTAAAGCTGAGCGGTAAAGAACTGAGCGCCGTCGCGAAGAGCCTCGTCGGCGGTTTTCATCATCCGTGAATAATGCAAAAAGGCGTGCAGCGTGCCTGGGTag < 2:568554/139‑1 (MQ=255) atCGAAATGATGGCTAATCTTGTTGCCGCGTATCGTTAAAGCTGAGCGGTAAAGAACTGAGCGCCGTCGCGa < 1:801183/72‑1 (MQ=255) atCGAAATGATGGCTAATCTTGTTGCCGCGTATCGTTAAAGCTGAGCGGTAAAGAACTGAGCGCCGTCGCGa > 2:801183/1‑72 (MQ=255) atCGAAATGATGGCTAATCTTGTTGCCGCGTATCGTTAAAGCTGAGCGGTAAAGAACTGAGCGCCGTCGCGAAGAGCCTCGTCGGCGGTTTTCATCATCCGTGAATAATGCAAAAAGGCGTGCAGCGTGCCTggg > 1:285996/1‑135 (MQ=255) atCGAAATGATGGCTAATCTTGTTGCCGCGTATCGTTAAAGCTGAGCGGTAAAGAACTGAGCGCCGTCGCGAAGAGCCTCGTCGGCGGTTTTCATCATCCGTGAATAATGCAAAAAGGCGTGCAGCGTGCCTggg < 2:285996/135‑1 (MQ=255) atCGAAATGATGGCTAATCTTGTTGCCGCGTATCGTTAAAGCTGAGCGGTAAAGAACTGAGCGCCGTCGCGAAGAGCCTCGTCGGCGGTTTTCATCATCCGTGAATAATGCAAAAAGGCGTGCAGCGTGCCTGGGTaga > 1:1293955/1‑139 (MQ=255) cGAAATGATGGCTAATCTTGTTGCCGCGTATCGTTAAAGCTGAGCGGTAAAGAACTGAGCGCCGTCGCGAAGAGCCTCGTCGGCGGTTTtca > 2:391811/1‑92 (MQ=255) cGAAATGATGGCTAATCTTGTTGCCGCGTATCGTTAAAGCTGAGCGGTAAAGAACTGAGCGCCGTCGCGAAGAGCCTCGTCGGCGGTTTtca < 1:391811/92‑1 (MQ=255) aaTGATGGCTAATCTTGTTGCCGCGTATCGTTAAAGCTGAGCTGTAAAGAACTGAGCGCCg < 2:747594/61‑1 (MQ=255) aaTGATGGCTAATCTTGTTGCCGCGTATCGTTAAAGCTGAGCGGTAAAGAACTGAGCGCCg > 1:747594/1‑61 (MQ=255) atgGCTAATCTTGTTGCCGCGTATCGTTAAAGCTGAGCGGTAAAGAACTGAGCGCCGTCGCGAAGAGCCTCGTCGGCGGTTTTCATCATCCGTGAATAATGCAAAAAGGCGTGCAGCGTGCCTGGGTAGAGTTTGAACt > 1:682686/1‑139 (MQ=255) tgGCTAATCTTGTTGCCGCGTATCGTTAAAGCTGAGCGGTAAAGAACTGAGCGCCGTCGCGAAGAGCCTCGTCGGCGGTTTtcat < 1:27006/85‑1 (MQ=255) tgGCTAATCTTGTTGCCGCGTATCGTTAAAGCTGAGCGGTAAAGAACTGAGCGCCGTCGCGAAGAGCCTCGTCGGCGGTTTtcat > 2:27006/1‑85 (MQ=255) tgGCTAATCTTGTTGCCGCGTATCGTTAAAGCTGAGCGGTAAAGAACTGAGCGCCGTCGCGAAGAGCCTCGTCGGCGGTTTtcat > 1:867026/1‑85 (MQ=255) tgGCTAATCTTGTTGCCGCGTATCGTTAAAGCTGAGCGGTAAAGAACTGAGCGCCGTCGCGAAGAGCCTCGTCGGCGGTTTacat < 2:867026/85‑1 (MQ=255) tgGCTAATCTTGTTGCCGCGTATCGTTAAAGCTGAGCGGTAAAGAACTGAGCGCCGTCGCGAAGAGCCTCGTCGGCGGTTTTCATCATCCGTGAATAATGCAAAAAGGCGTGCAGCg < 2:394086/117‑1 (MQ=255) tgGCTAATCTTGTTGCCGCGTATCGTTAAAGCTGAGCGGTAAAGAACTGAGCGCCGTCGCGAAGAGCCTCGTCGGCGGTTTTCATCATCCGTGAATAATGCAAAAAGGCGTGCAGCg > 1:394086/1‑117 (MQ=255) ggCTAATCTTGTTGCCGCGTATCGTTAAAGCTGAGCGGTAAAGAACTGAGCGCCGTCGCGAAGAGCCTCGTCGGCGGTTTTCATCATCCGTGAATAATGCAAAAAGGCGTGCAg < 1:197104/114‑1 (MQ=255) ggCTAATCTTGTTGCCGCGTATCGTTAAAGCTGAGCGGTAAAGAACTGAGCGCCGTCGCGAAGAGCCTCGTCGGCGGTTTTCATCATCCGTGAATAATGCAAAAAGGCGTGCAg > 2:197104/1‑114 (MQ=255) aaTCTTGTTGCCGCGTATCGTTAAAGTTGAGCGGTAAAGAACTGAGCGCCGTCGCGAAGAGCCTCGTCGGCGGTTTTCATCATCCGTGAATAATGCAAAAAGGCGTGCAGCGTGCCTGGGTAGAGt > 1:1061372/1‑126 (MQ=255) aaTCTTGTTGCCGCGTATCGTTAAAGTTGAGCGGTAAAGAACTGAGCGCCGTCGCGAAGAGCCTCGTCGGCGGTTTTCATCATCCGTGAATAATGCAAAAAGGCGTGCAGCGTGCCTGGGTAGAGt < 2:1061372/126‑1 (MQ=255) ttgCCGCGTATCGTTAAAGCTGAGCGGTAAAGAACTGAGCGCCGTCGCGAAGAGCCTCGTCGGCGGTTTTCATCATCCGTGAATAATGCAAAAAGGCGTGCAGCg > 2:1217091/1‑105 (MQ=255) ttgCCGCGTATCGTTAAAGCTGAGCGGTAAAGAACTGAGCGCCGTCGCGAAGAGCCTCGTCGGCGGTTTTCATCATCCGTGAATAATGCAAAAAGGCGTGCAGCg < 1:1217091/105‑1 (MQ=255) ttgCCGCGTATCGTTAAAGCTGAGCGGTAAAGAACTGAGCGCCGTCGCGAAGAGCCTCGTCGGCGGTTTTCATCATCCGTGAATAATGCAAAAAGGCGTGCAGCGTGCCTGGGTAGAGTTTGAACTCACAGGGctgctg > 2:116692/1‑139 (MQ=255) ttgCCGCGTATCGTTAAAGCTGAGCGGTAAAGAACTGAGCGCCGTCGCGAAGAGCCTCGTCGGCGGTTTTCATCATCCGTGAATAATGCAAAAAGGCGTGCAGCGTGCCTGGGTAGAGTTTGAACTCACAGGGctgctg > 1:1212881/1‑139 (MQ=255) gCCGCGTATCGTTAAAGCTGAGCGGTAAAGAACTGAGCGCCGTc < 2:1042612/44‑1 (MQ=255) gCCGCGTATCGTTAAAGCTGAGCGGTAAAGAACTGAGCGCCGTc > 1:1042612/1‑44 (MQ=255) cgcgTATCGTTAAAGCTGAGCGGTAAAGAACTGAGCGCCGTCGCGAAGAGCCTCGTCGGCGGTTTTCATCATCCGTGAATAATGCAAAAAGGCGTGCAGCGTGCCTGGGTAGAGTTTGAACTCACAGGGCTGCTGATgc > 2:395468/1‑139 (MQ=255) cgcgTATCGTTAAAGCTGAGCGGTAAAGAACTGAGCGCCGTCGCGAAGAGCCTCGTCGGCGGTTTTCATCATCCGTGAATAATGCAAAAAGGCGTGCAGCGTGCCTGGGTAGAGTTTGAACTCACAGGGCTGCTGATgc > 1:335077/1‑139 (MQ=255) gcgTATCGTTAAAGCTGAGCGGTAAAGAACTGAGCGCCGTCGCGAAGAGCCTCGTCGGCGGTTTTCATCATCCGTGAATAATGCAAAAAGGCGTGCAGCGTGCCTGGGTAGAGTTTGAACTCACAGGGCTGCTGATgcg > 2:324304/1‑139 (MQ=255) tATCGTTAAAGCTGAGCGGTAAAGAACTGAGCGCCGTCGCGAAGAGCCTCGTCGGCGGTTTTCATCATCCGTGAATAATGCAAAAAGGCGTGCAGCGTGc < 1:972810/100‑1 (MQ=255) tATCGTTAAAGCTGAGCGGTAAAGAACTGAGCGCCGTCGCGAAGAGCCTCGTCGGCGGTTTTCATCATCCGTGAATAATGCAAAAAGGCGTGCAGCGTGc > 2:972810/1‑100 (MQ=255) | CTGGAAGAGATTGCCGAGCAAAACCGTGAGGTCTTCCTCGGTGCCGGCGGGAAAAAATATGAATATATTCCGGCGCTTAATGCCACGCCGGAACATATCGAAATGATGGCTAATCTTGTTGCCGCGTATCGCTAAAGCTGAGCGGTAAAGAACTGAGCGCCGTCGCGAAGAGCCTCGTCGGCGGTTTTCATCATCCGTGAATAATGCAAAAAGGCGTGCAGCGTGCCTGGGTAGAGTTTGAACTCACAGGGCTGCTGATGCG > NC_000913/498883‑499144 |
Alignment Legend |
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Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 27 ≤ ATCG/ATCG < 34 ≤ ATCG/ATCG < 39 ≤ ATCG/ATCG < 40 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |