| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | USA300TCH1516_ALE | 1,963,768 | C→G | 100% | V365L (GTA→CTA) | hemY ← | Protoporphyrinogen oxidase |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | USA300TCH1516_ALE | 1,963,768 | 0 | C | G | 85.7% | 122.6 / 15.7 | 42 | V365L (GTA→CTA) | hemY | Protoporphyrinogen oxidase |
| Reads supporting (aligned to +/- strand): ref base C (6/0); new base G (16/20); total (22/20) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 2.16e-02 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 6.78e-01 | |||||||||||
| Rejected as polymorphism: Variant not supported by required number of reads on each strand. | |||||||||||
ACTTTTCGGCAAACGATTGACAATTGTAAATTCAGGATCACCTTTAAATGTCATCATTTGACTTAAATCTCTACGTACAATCGATACTAATTCATTATCTGTATGATCATCAACCACAGTATCACCTGGTTTACCTACATACGCACGAATCAAAACCTTACCTTCCGGTGTAGTAAATGGCCATTTTTTCGATGTCCAAGTACATGCGGTAATGTCTGTATCACTCGTTCTCGCAATTACGAAGCCAGTACCATCATGGGTATTTTCAATGTCT > USA300TCH1516_ALE/1963631‑1963904 | aCTTTTCGGCAAACGATTGACAATTGTAAATTCAGGATCACCTTTAAATGTCATCATTTGACTTAAATCTCTACGTACAATCGATACTAATTCATTATCTGTATGATCATCAACCACAGTATCACCTGGTTTACCTAGATa < 1:189260/141‑1 (MQ=255) tttCGGCAAACGATTGACAATTGTAAATTCAGGATCACCTTTAAATGTCATCATTTGACTTAAATCTCTACGTACAATCGATACTAATTCATTATCTGTATGATCATCAACCACAGTATCACCTGGTTTACCTACATACGc > 2:276054/1‑141 (MQ=255) cGGCAAACGATTGACAATTGTAAATTCAGGATCACCTTTAAATGTCATCATTTGACTTAAATCTCTACGTACAATCGATACTAATTCATTATCTGTATGATCATCAACCACAGTATCACCTGGTTTACCTAGATACGCACg < 2:130707/141‑1 (MQ=255) gCAAACGATTGACAATTGTAAATTCAGGATCACCTTTAAATGTCATCATTTGACTTAAATCTCTACGTACAATCGATACTAATTCATTATCTGTATGATCATCAACCACAGTATCACCTGGTTTACCTAGATACGCACGaa > 1:195650/1‑141 (MQ=255) cAAACGATTGACAATTGTAAATTCAGGATCACCTTTAAATGTCATCATTTGACTTAAATCTCTACGTACAATCGATACTAATTCATTATCTGTATGATCATCAACCACAGTATCACCTGGTTTACCTAGATACGCACGAAt > 1:594092/1‑141 (MQ=255) cGATTGACAATTGTAAATTCAGGATCACCTTTAAATGTCATCATTTGACTTAAATCTCTACGTACAATCGATACTAATTCATTATCTGTATGATCATCAACCACAGTATCACCTGGTTTACCTAGATACGCACGAATCaaa < 1:255368/141‑1 (MQ=255) ttGACAATTGTAAATTCAGGATCACCTTTAAATGTCATCATTTGACTTAAATCTCTACGTACAATCGATACTAATTCATTATCTGTATGATCATCAACCACAGTATCACCTGGTTTCCCTAGATAGGCACGATTCAAAacc > 1:503936/1‑141 (MQ=255) tGACAATTGTAAATTCAGGATCACCTTTAAATGTCATCATTTGACTTAAATCTCTACGTACAATCGATACTAATTCATTATCTGTATGATCATCAACCACAGTATCACCTGGTTTACCTAGATACGCACGAATCAAAacct > 1:525162/1‑141 (MQ=255) aTTGTAAATTCAGGATCACCTTTAAATGTCATCATTTGACTTAAATCTCTACGTACAATCGATACTAATTCATTATCTGTATGATCATCAACCACAGTATCACCTGGTTTACCTAGATACGCACGAATCAAAaccttacct < 1:140627/141‑1 (MQ=255) ttGTAAATTCAGGATCACCTTTAAATGTCATCATTTGACTTAAATCTCTACGTACAATCGATACTAATTCATTATCTGTATGATCATCAACCACAGTATCACCTGGTTTACCTAGATACGCACGAATCAAAaccttacctt < 1:65963/141‑1 (MQ=255) gTAAATTCAGGATCACCTTTAAATGTCATCATTTGACTTAAATCTCTACGTACAATCGATACTAATTCATTATCTGTATGATCATCAACCACAGTATCACCTGGTTTACCTAGATACGCACGAATCAAAaccttacctcgc > 1:755531/1‑138 (MQ=255) ttCAGGATCACCTTTAAATGTCATCATTTGACTTAAATCTCTACGTACAATCGATACTAATTCATTATCTGTATGATCATCAACCACAGTATCACCTGGTTTACCTAGATACGCACGAATCAAAACCTTACCTTCCGgtgt > 1:317102/1‑141 (MQ=255) aGGATCACCTTTAAATGTCATCATTTGACTTAAATCTCTACGTACAATCGATACTAATTCATTATCTGTATGATCATCAACCACAGTATCACCTGGTTTACCTAGATACGCACGAATCAAAACCTTACCTTCCGGTgtagt > 1:688761/1‑141 (MQ=255) cTTTAAATGTCATCATTTGACTTAAATCTCTACGTACAATCGATACTAATTCATTATCTGTATGATCATCAACCACAGTATCACCTGGTTTACCTAGATACGCACGAATCAAAACCTTACCTTCCGGTGTAGTAAATGGcc < 1:148436/141‑1 (MQ=255) cTTTAAATGTCATCATTTGACTTAAATCTCTACGTACAATCGATACTAATTCATTATCTGTATGATCATCAACCACAGTATCACCTGGTTTACCTAGATACGCACGAATCAAAACCTTACCTTCCGGTGTAGTAAATGGcc < 1:634064/141‑1 (MQ=255) ttAAATGTCATCATTTGACTTAAATCTCTACGTACAATCGATACTAATTCATTATCTGTATGATCATCAACCACAGTATCACCTGGTTTACCTAGATACGCACGAATCAAAACCTTACCTTCCGGTGTAGTAAATGGCCAt < 2:12633/141‑1 (MQ=255) tcatcaTTTGACTTAAATCTCTACGTACAATCGATACTAATTCATTATCTGTATGATCATCAACCACAGTATCACCTGGTTTACCTAGATACGCACGAATCAAAACCTTACCTTCCGGTGTAGTAAATGGCCATTTTTTCg > 1:504251/1‑141 (MQ=255) tcatcaTTTGACTTAAATCTCTACGTACAATCGATACTAATTCATTATCTGTATGATCATCAACCACAGTATCACCTGGTTTACCTAGATACGCACGAATCAAAACCTTACCTTCCGGTGTAGTAAATGGCCATTTTTTCg > 1:658028/1‑141 (MQ=255) atTTGACTTAAATCTCTACGTACAATCGATACTAATTCATTATCTGTATGATCATCAACCACAGTATCACCTGGTTTACCTAGATACGCACGAATCAAAACCTTACCTTCCGGTGTAGTAAATGGCCATTTTTTCGATGTc < 1:79624/141‑1 (MQ=255) gACTTAAATCTCTACGTACAATCGATACTAATTCATTATCTGTATGATCATCAACCACAGTATCACCTGGTTTACCTAGATACGCACGAATCAAAACCTTACCTTCCGGTGTAGTAAATGGCCATTTTTTCGATGTCCAAg > 2:6917/1‑141 (MQ=255) aCTTAAATCTCTACGTACAATCGATACTAATTCATTATCTGTATGGTCATCTACTACATTATCACCTGGTTTACCTAGATACGCACGAATCAAAACCTTACCTTCCGGTGTAGTAAATGGCCATTTTTTCGATGTCCAAGt < 2:113063/141‑1 (MQ=255) tAAATCTCTACGTACAATCGATACTAATTCATTATCTGTATGATCATCCACCACAGTATCACCTGGTTTACCTCGCTACGCACGAATCAAAACCTTACCTTCCGGTGTAGTAAATGGCCATTTTTTCGATGTCCAAGTACa < 2:114328/141‑1 (MQ=255) aaaTCTCTACGTACAATCGATACTAATTCATTATCTGTATGATCATCAACCACAGTATCACCTGGTTTACCTAGATACGCACGAATCAAAACCTTACCTTCCGGTGTAGTAAATGGCCCTTTTTTCGATGTCCAAGTACAt < 2:320495/141‑1 (MQ=255) aTACTAATTCATTATCTGTATGATCATCAACCACAGTATCACCTGGTTTACCTAGATACGCACGAATCAAAACCTTACCTTCCGGTGTAGTAAATGGCCATTTTTTCGATGTCCAAGTACATGCGGTAATGTCTGTATCAc < 1:160770/141‑1 (MQ=255) tAATTCATTATCTGTATGATCATCAACCACAGTATCACCTGGTTTACCTAGATACGCACGAATCAAAACCTTACCTTCCGGTGTAGTAAATGGCCATTTTTTCGATGTCCAAGTACATGCGGTAATGTCTGTATCACTCGt < 1:524956/141‑1 (MQ=255) aTTCATTATCTGTATGATCATCAACCACAGTATCACCTGGTTTACCTAGATACGCACGAATCAAAACCTTACCTTCCGGTGTAGTAAATGGCCATTTTTTCGATGTCCAAGTACATGCGGTAATGTCTGTATCACTCGTtc > 1:507463/1‑141 (MQ=255) aTTCATTATCTGTATGATCATCAACCACAGTATCACCTGGTTTACCTAGATACGCACGAATCAAAACCTTACCTTCCGGTGTAGTAAATGGCCATTTTTTCGATGTCCAAGTACATGCGGTAATGTCTGTATCACTCGTtc < 1:175184/141‑1 (MQ=255) aTTATCTGTATGATCATCAACCACAGTATCACCTGGTTTACCTAGATACGCACGAATCAAAACCTTACCTTCCGGTGTAGTAAATGGCCATTTTTTCGATGTCCAAGTACATGCGGTAATGTCTGTATCACTCGTTCTCGc < 1:41728/141‑1 (MQ=255) tGATCATCAACCACAGTATCACCTGGTTTACCTAGATACGCACGAATCAAAACCTTACCTTCCGGTGTAGTAAATGGCCATTTTTTCGATGTACCAGTGCATGCGGTAATGTCTGTATCACTCGTTCTCGCAATTACGAAg > 1:7583/1‑141 (MQ=255) tcaACCACAGTATCACCTGGTTTACCTAGATACGCACGAATCAAAACCTTACCTTCCGGTGTAGTAAATGGCCATTTTTTCGATGTCCAAGTACATGCGGTAATGTCTGTATCACTCGTTCTCGCAATTACGAAGCCAGTa > 1:361089/1‑141 (MQ=255) caACCACAGTATCACCTGGTTTACCTACATACGCACGAATCAAAACCTTACCTTCCGGTGTAGTAAATGGCCATTTTTTCGATGTCCAAGTACATGCGGTAATGTCTGTATCACTCGTTCTCGCAATTACGAAGCCAGTAc > 1:479750/1‑141 (MQ=255) aaCCACAGTATCACCTGGTTTACCTAGATACGCGCGAATCAAAACCTTACCTTCCGGTGTAGTAAATGGCCATTTTTTCGATGTCCAAGTACATGCGGTAATGTCTGTATCACTCGTTCTCGCAATTACGAAGCCAGTAcc > 2:251701/1‑141 (MQ=255) caGTATCACCTGGTTTACCTAGATACGCACGAATCAAAACCTTACCTTCCGGTGTAGTAAATGGCCATTTTTTCGATGTCCAAGTACATGCGGTAATGTCTGTATCACTCGTTCTCGCAATTACGAAGCCAGTACcatcat < 1:781125/141‑1 (MQ=255) aGTATCACCTGGTTTACCTAGATGCGCACGAATCAAAACCTTACCTTCCGGTGTAGTAAATGGCCATTTTTTCGATGTCCAAGTACATGCGGTAATGTCTGTATCACTCGTTCTCGCAATTACGAAGCCAGTACCATCATg < 1:267137/141‑1 (MQ=255) gTATCACCTGGTTTACCTACATACGCACGAATCAAAACCTTACCTTCCGGTGTAGTAAATGGCCATTTTTTCGATGTCCAAGTACATGCGGTAATGTCTGTATCACTCGTTCTCGCAATTACGAAGCCAGTACCATCATgg > 2:61938/1‑141 (MQ=255) aTCACCTGGTTTACCTAGATACGCACGAATCAAAACCTTACCTTCCGGTGTAGTAAATGGCCATTTTTTCGATGTCCAAGTACATGCGGTAATGTCTGTATCACTCGTTCTCGCAATTACGAAGCCAGTACCATCATGGGt < 2:111713/141‑1 (MQ=255) aTCACCTGGTTTACCTACATACGCACGAATCAAAACCTTACCTTCCGGTGTAGTAAATGGCCATTTTTTCGATGTCCAAGTACATGCGGTAATGTCTGTATCACTCGTTCTCGCAATTACGAAGCCAGTACCATCATGGGt > 1:363511/1‑141 (MQ=255) tGGTTTACCTAGATACGCACGAATCAAAACCTTACCTTCCGGTGTAGTAAATGGCCATTTTTTCGATGTCCAAGTACATGCGGTAATGTCTGTATCACTCGTTCTCGCAATTACGAAGCCAGTACCATCATGGGTATTTTc < 1:594982/141‑1 (MQ=255) ttACCTACATACGCACGAATCAAAACCTTACCTTCCGGTGTAGTAAATGGCCATTTTTTCGATGTCCAAGTACATGCGGTAATGTCTGTATCACTCGTTCTCGCAATTACGAAGCCAGTACCATCATGGGTATTTTCCATg > 1:82507/1‑141 (MQ=255) ccTAGATACGCACGAATCAAAACCTTACCTTCCGGTGTAGTAAATGGCCATTTTTTCGATGTCCAAGTACATGCGGTAATGTCTGTATCACTCGTTCTCGCAATTACGAAGCCAGTACCATCATGGGTATTTTCAATGTCt > 2:117261/1‑141 (MQ=255) ccTAGATACGCACGAATCAAAACCTTACCTTCCGGTGTAGTAAATGGCCATTTTTTCGATGTCCAAGTACATGCGGTAATGTCTGTATCACTCGTTCTCGCAATTACGAAGCCAGTACCATCATGGGTATTTTCAATGTCt > 1:550945/1‑141 (MQ=255) ccTACATACGCACGAATCAAAACCTTACCTTCCGGTGTAGTAAATGGCCATTTTTTCGATGTCCAAGTACATGCGGTAATGTCTGTATCACTCGTTCTCGCAATTACGAAGCCAGTACCATCATGGGTATTTTCAATGTCt > 1:766956/1‑141 (MQ=255) | ACTTTTCGGCAAACGATTGACAATTGTAAATTCAGGATCACCTTTAAATGTCATCATTTGACTTAAATCTCTACGTACAATCGATACTAATTCATTATCTGTATGATCATCAACCACAGTATCACCTGGTTTACCTACATACGCACGAATCAAAACCTTACCTTCCGGTGTAGTAAATGGCCATTTTTTCGATGTCCAAGTACATGCGGTAATGTCTGTATCACTCGTTCTCGCAATTACGAAGCCAGTACCATCATGGGTATTTTCAATGTCT > USA300TCH1516_ALE/1963631‑1963904 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 22 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |