| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | USA300TCH1516_ALE | 1,324,487 | G→A | 10.0% | R420H (CGT→CAT) | mutL → | DNA mismatch repair protein MutL |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | USA300TCH1516_ALE | 1,324,487 | 0 | G | A | 10.0% | 147.4 / 5.1 | 54 | R420H (CGT→CAT) | mutL | DNA mismatch repair protein MutL |
| Reads supporting (aligned to +/- strand): ref base G (23/25); new base A (2/4); total (25/29) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 6.75e-01 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 7.44e-01 | |||||||||||
AGAAAGTAACAGTAAGCCATTTATGGAAGAAAATCAAAACGATGAGATAGTTATAAAAGAAGATTCATATAATCCATTCGTAACGAAAACATCTGAAAGTTTAATAGCTGATGAT‑GAATCTTCTGGTTATAATAATACACGTGAAAAAGATGAAGACTACTTCAAAAAACAACAAGAAATTTTACAAGAAATGGATCAAACATTTGATTCAAATGATGGTACAACTGTGCAAAATTATGAGAATAAAGCGTCTGATGATTATTATGATGTAAACGATATT > USA300TCH1516_ALE/1324347‑1324626 | agaaAGTAAGAATACGCCATTGATTGAAGAAAATCAAAACGATGAGATAGTTATAAAAGAAGATTCATATAATCCATTCGTAACGAAAACATCTGAAAGTTTAATAGCTGATGAT‑GAATCTTCTGGTTATAATAATACACg < 2:329493/141‑1 (MQ=255) gaaAGTAACAGTAAGCCATTTATGGAAGAAAATCAAAACGATGAGGTAGTTATAAAAGAAGATTCATATAATCCATTCGTAACGAAAACATCTGAAAGTTTAATAGCTGATGAT‑GAATCTTCTGGTTATAATAATACACGt < 2:94880/141‑1 (MQ=255) aaCAGTAAGCCATTTATGGAAGAAAATCAAAACGATGAGATAGTTATAAAAGAAGATTCATATAATCCATTCGTAACGAAAACATCTGAAAGTTTAATAGCTGATGAT‑GAATCTTCTGGTTATAATAATACACGTGaaaaa > 1:281555/1‑141 (MQ=255) aaCAGCAAGCCATTTATGGAAGAAAATCAAAACGATGAGATAGTTATAAAAGAAGATTCATATAATCCATTCGTAACGAAAACATCTGAAAGTTTAATAGCTGATGAT‑GAATCTTCTGGTTATAATAATACACGTGaaaaa < 1:216893/141‑1 (MQ=255) aGCCATTTATGGAAGAAAATCAAAACGATGAGATAGTTATAAAAGAAGATTCATATAATCCATTCGTAACGAAAACATCTGAAAGTTTAATAGCTGATGAT‑GAATCTTCTGGTTATAATAATACACGTGAAAAAGATGAAg > 1:16362/1‑141 (MQ=255) aGCCATTTATGGAAGAAAATCAAAACGATGAGATAGTTATAAAAGAAGATTCATATAATCCATTCGTAACGAAAACATCTGAAAGTTTAATAGCTGATGAT‑GAATCTTCTAGTTATAATAATACACGTGAACAAGATGAAg > 2:269457/1‑141 (MQ=255) tttATGGAAGAAAATCAAAACGATGAGATAGTTATAAAAGAAGATTCATATAATCCATTCGTAACGAAAACATCTGAAAGTTTAATAGCTGATGAT‑GAATCTTCTGGTTATAATAATACACGTGAAAAAGATGAAGactac < 1:120446/141‑1 (MQ=255) tgtATGGAAGAAAATAAAAAAGATGAGATAGTTATAAAAGAAGATTCATATAATCCATTCGTAACGAAAACATCTGAAAGTTTAATAGCTGATGAT‑GAATCTTCTGGTTATAATAATAAAAAAAAAAAAGATGAAGactac < 2:142530/139‑1 (MQ=255) aTGGAAGAAAATCAAAACGATGAGATAGTTATAAAAGAAGATTCATATAATCCATTCGTAACGAAAACATCTGAAAGTTTAATAGCTGATGAT‑GAATCTTCTGGTTATAATAATACACGTGAAAAAGATGAAGACTACTTc < 2:68933/141‑1 (MQ=255) ggAAGAAAATCAAAACGATGAGATAGTTATAAAAGAAGATTCATATAATCCATTCGTAACGAAACCGTCTTAAAATTT‑ATAGAAGGAGTTGGAATCTTCTGGTTATAATAATACACGTGAAAAAGATGAAGACTACTTCaa > 2:400425/1‑141 (MQ=255) aaaaTCAAAACGATGAGATAGTAATAAAAGAAGATTCATATAATCCATTCGTAACGAAAACATCTGAAAGTTTAATAGCTGATGAT‑GAATCTTCTGGTTATAATAATACACGTGAAAAAGATGAAGACTACTTCAAAAaac < 2:340391/141‑1 (MQ=255) cgcaaCGAAGAGAAAGTTATAAAAGAAGATCCATATAATCCATTCGTAACGAAAACATCTGAAAGTTTAATAGCTGATGAT‑GAATCTTCTGGTTATAATAATACACGTGAAAAAGATGAAGACTACTTCAAAAAAcaacaa < 1:334647/138‑1 (MQ=255) aaCGATGAGATAGTTATAAAAGAAGATTCATATAATCCATTCGTAACGAAAACATCTGAAAGTTTAATAGCTGATGAT‑GAATCTTCTGGTTATAATAATACACGTGAAAAAGATGAAGACTACTTCAAAAAACAACAAGaa > 1:118634/1‑141 (MQ=255) aCGATGAGATAGTTATAAAAGAAGATTCATATAATCCATTCGTAACGAAAACATCTGAAAGTTTAATAGCTGATGAT‑GAATCTTCTGGTTATAATAATACACGTGAAAAAGATGAAGACTACTTCAAAAAACAACAAGaaa < 2:16362/141‑1 (MQ=255) gATGAGATAGTTATAAAAGAAGATTCATATAATCCATTCGTAACGAAAACATCTGAAAGTTTAATAGCTGATGAT‑GAATCTTCTGGTTATAATAATACACGTGAAAAAGATGAAGACTACTTCAAAAAACAACAAGAAAtt > 1:372539/1‑141 (MQ=255) agatagatATAAAAGAAGATTCATATAATCCATTCGTAACGAAAATATCTAAAAGGTTAATAGCCAATAAT‑AAAACGTCTGGTTATAATAATACACGTGAAAAAGATGAAGACTACTTCAAAAAACAACAAGAAATTTTAc < 2:4113/141‑1 (MQ=255) agaTAGTTATAAAAGAAGATTCATATAATCCATTCGTAACGAAAACATCTGAAAGTTTAATAGCTGATGAT‑GAATCTTCTGGTTATAATAATACACGTGAAAAAGATGAAGACTACTTCCAAATACAACAAGAACTTTTAc > 2:122011/1‑141 (MQ=255) aTAGTTATAAAAGAAGATTCATATAATCCATTCGTAACGAAAACATCTGAAAGTTTAATAGCTGATGAT‑GAATCTTCTGATTATAATAATACACGTGAAAAAGATAAAGACTACTTCAAAAAACAACAAGAAATTTTACaa > 2:85370/1‑141 (MQ=255) taAAAGAAGATTCATATAATCCATTCGTAACGAAAACATCTGAAAGTTTAATAGCTGATGAT‑GAATCTTCTGGTTATAATAATACACGTGAAAAAGATGAAGACTACTTCAAAAAACAACAAGAAATTTTACAAGAAATgg < 1:270096/141‑1 (MQ=255) agaagaTTCATATAATCCATTCGTAACGAAAACATCTGAAAGTTTAATAGCTGATGAT‑GAATCTTCTGGTTATAATAATACACGTGAAAAAGATGAAGACTACTTCAAAAAACAACAAGAAATTTTACAAGAAATGGATCa < 1:89416/141‑1 (MQ=255) gaTTCATATAATCCATTCGTAACGAAAACATCTGAAAGTTTAATAGCTGATGAT‑GAATCTTCTGGTTATAATAATACACGTGAAAAAGATGAAGACTACTTCAAAAAACAACAAGAAATTTTACAAGAAATGGATCAAACa > 1:157277/1‑141 (MQ=255) ttCATATAATCCATTCGTAACGAAAACATCTGAAAGTTTAATTGTACAGTAG‑TAATCTTCTGGTTATAATAATACACGTGAAAAAGATGAAGACTACTTCAAAAAACAACAAGAAATTTTACAAGAAATGGATCAAACAtt < 2:398337/141‑1 (MQ=255) atatAATCCATTCGTAACGAAAACATCTGAAAGTTTAATAGCTGATGAT‑GAATCTTCTGGTTATAATAATACACGTGAAAAAGATGAAGACTACTTCAAAAAACAACAAGAAATTTTACAAGAAATGGATCAAACATTTGa < 1:130403/141‑1 (MQ=255) atatAATCCATTCGTAACGAAAACATCTGAAAGTTTAATAGCTGATGAT‑GAAGCTTCTCGTTTTATGTACTTAGGGGAAAAAGATGAAGACTACTTCAAAAAACAACAAGAAATTTTACAAGAAATGGATCAAACATTTGa < 1:194286/141‑1 (MQ=255) ataATCCATTCGTAACGAAAACATCTGAAAGTTTAATAGCTGATGAT‑GAATCTTCTGGTTATAATAATACACATGAAAAAGATGAAGACTACTTCAAAAAACAACAAGAAATTTTACAAGAAATGGATCAAACATTTGAtt > 2:265726/1‑141 (MQ=255) ataATCCATTCGTAACGAAAACATCTGAAAGTTTAATAGCTGATGAT‑GAATCTTCTGGTTATAATAATACACATGAAAAAGATGAAGACTACTTCAAAAAACAACAAGAAATTTTACAAGAAATGGATCAAACATTTGAtt > 2:265785/1‑141 (MQ=255) tCGTAACGAAAACATCTGAAAGTTTAATAGCTGATGAT‑GAATCTTCTGGTTATAATAATACACGTGAAAAAGATGAAGACTACTTCAAAAAACAACAAGAAATTTTACAAGAAATGTATCAAACATTTGATTAAAatgatg > 1:398119/1‑141 (MQ=255) cGTAACGAAAACATCTGAAAGTTTAATAGCTGATGAT‑GAATCTTCTGGTTATAATAATACACGTGAAAAAGATGAAGACTACTTCAAAAAACAACAAGAAATTTTACAAGAAATGGATCAAACATTTGATTCAAATGATgg > 2:143018/1‑141 (MQ=255) gAAAACATCTGAAAGTTTAATAGCTGATGAT‑GAATCTTCTGGTTATAATAATACACGTGAAAAAGATGAAGACTACTTCAAAAAACAACAAGAAATTTTACAAGAAATGGATCAAACATTTGATTCAAATGATGGTACAAc < 2:223927/141‑1 (MQ=255) cATCTGAAAGTTTAATAGCTGATGAT‑GAATCTTCTGGTTATAATAATACACGTGAAAAAGATGAAGACTACTTCAAAAAACAACAAGAAATTTTACAAGAAATGGATCAAACATTTGATTCAAATGATGGTACAACTGTGc > 1:327757/1‑141 (MQ=255) cATCTGAAAGTTTAATAGCTGATGAT‑GAATCTTCTGGTTATAATAATACACGTGAAAAAGATGAAGACTACTTCAAAAAACAACAAGAAATTTTACAAGAAATGGATCAAACATTTGATTCAAATGATGGTACAACTGTGc > 1:327663/1‑141 (MQ=255) cATCTGAAAGTTTAATAGCTGATGAT‑GAATCTTCTGGTTATAATAATACACGTGAAAAAGATGAAGACTACTTCAAAAAACAACAAGAAATTTTACAAGAAATGGATCAAACATTTGATTCAAATGATGGTACAACTGTGc > 1:174879/1‑141 (MQ=255) cATCTGAAAGTTTAATAGCTGATGAT‑GAATCTTCTGGTTATAATAATACACGTGAAAAAGATGAAGACTACTTCAAAAAACAACAAGAAATTTTACAAGAAATGGATCAAACATTTGATTCAAATGATCGTACAACTGTGc > 2:288096/1‑141 (MQ=255) aTCTGAAAGTTTAATAGCTGATGAT‑GAATCTTCTGGTTATAATAATACACGTGAAAAAGATGAAGACTACTTCAAAAAACAACAAGAAATTTTACAAGAAATGGATCAAACATTTGATTCAAATGATGGTACAACTGTGCa < 1:373385/141‑1 (MQ=255) ttGAAAGTTTAATAGATGATGAT‑GAATCTTCAGATTATAATAATACACGTGAAAAAGATAAATACTACTTCAAAAAACAACTATAAATTTTACAAGAAATGGATCAAACATTTGATTCAAATGATGGTACAACTGTGCaaa < 2:333961/140‑1 (MQ=255) aaTAGCTGATGAT‑GAATCTTCTGGTTATAATAATACACGTGAAAAAGATGAAGACTACTTCAAAAAACAACAAGAAATTTTACAAGAAATGGATCAAACATTTGATTCAAATGATGGTACAACTGTGCAAAATTATGAGaa > 2:379543/1‑141 (MQ=255) aaTAGCTGATGAT‑GAATCTTCTGGTTATAATAATACACGTGAAAAAGATGAAGACTACTTCAAAAAACAACAAGAAATTTTACAAGAAATGGATCAAACATTTGATTCAAATGATGGTACAACTGTGCAAAATTATGAGaa < 2:281555/141‑1 (MQ=255) agatgat‑gaATCTTCTGATTATAATAATACACGTGAAAAAGATGAAGACTACTTCAAAAAACAACAAGAAATTTTACAAGAAATGGATCAAACATTTGATTCAAATGATGGTACAACTGTGCAAAATTATGAGAATAAAGc < 2:385158/140‑1 (MQ=255) agatgat‑gaAACGTCTGGTTATAATAATACACGTGAAAAAGATGAAGACTACTTCAAAAAACAACAAGAAATTTTACAAGAAATGGATCAAACATTTGATTCAAATGATGGTACAACTGTGCAAAATTATGAGAATAAAGc < 2:237834/140‑1 (MQ=255) gatgat‑gaATCTTCTGGTTATAATAATACACGTGAAAAAGATGAAGACTACTTCAAAAAACAACAAGAAATTTTACAAGAAATGGATCAAACATTTGATTCAAATGATGGTACAACTGTGCAAAATTATGAGAATAAAGCg < 1:385378/141‑1 (MQ=255) gatgat‑gaATCTTCTGGTTATAATAATACACATGAAAAAGATGAAGACTACTTCAAAAAACAACAAGAAATTTTACAAGAAATGGATCAAACATTTGATTCAAATGATGGTACAACTGTGCAAAATTATGAGAATAAAGCg < 1:265726/141‑1 (MQ=255) gatgat‑gaATCTTCTGGTTATAATAATACACATGAAAAAGATGAAGACTACTTCAAAAAACAACAAGAAATTTTACAAGAAATGGATCAAACATTTGATTCAAATGATGGTACAACTGTGCAAAATTATGAGAATAAAGCg < 1:265785/141‑1 (MQ=255) gaATCTTCTGGTTATAATAATACACGTGAAAAAGATGAAGACTACTTCAAAAAACAACAAGAAATTTTACAAGAAATGGATCAAACATTTGATTCAAATGATGGTACAACTGTGCAAAATTATGAGAATAAAGCGTCggat > 1:119119/1‑141 (MQ=255) aTCTTCTGGTTATAATAATACACGTGAAAAAGATGAAGACTACTTCAAAAAACAACAAGAAATTTTACAAGAAATGGATCAAACATTTGATTCAAATGATGGTACAACTGTGCAAAATTATGAGAATAAAGCGTCtgatga > 2:208739/1‑141 (MQ=255) ggTTATAAAAATACACGTGAAAAAGATGAAGACTACTTCAAAAAACAACAATAAATTTTACAAGAAATGGATCAGATATTTGATTCAAATGATGGTACAACTGTGCAAAATTATGAGAATAAAGCGTCTGATGATtattat < 2:313035/141‑1 (MQ=255) ttATAATAATACACGTGAAAAAGATGAAGACTACTTCAAAAAACAACAAGAAATTTTACAAGAAATGGATCAAACATTTGATTCAAATGATGGTACAACTGCCAAACCTTCTGCGCACAAATCTGCTGATGATTATTatga < 1:391969/141‑1 (MQ=255) ttATAATAATACACGTGAAAAAGATAAAGACTACATCAAAAAACAACAAGAAATTTTACAAGAAATGGATCAAACATTGGATTCAAATGATGGTACAACTGTGCAAAATTATGAGAATAAAGCGTCTGATGATTATTatga < 2:302221/141‑1 (MQ=255) atataATAATACACATGAAAAAGATGAAGACTACTTCAAAAAACAACAAGAAATTTTACAAGAAATGGATCAAACATTTGATTCAAATGATGGTACAACTGTGCAAAATTATGAGAATAAAGCGTCTGATGATTATTatga < 2:394934/140‑1 (MQ=255) taataataCACGTGAAAAAGATGAAGACTACTTCAAAAAACAACAAGAAATTTTACAAGAAATGGATCAAACATTTGATTCAAATGATGGTACAACTGTGCAAAATTATGAGAATAAAGCGTCTGATGATTATTATGATGt > 2:322168/1‑141 (MQ=255) aaataataCACGTGAAAAAGATGAAGACTACTTCAAAAAACAACAAGAAATTTTACAAGAAATGGATCAAACATTTGATTCAAATGATGGTACAACTGTGCAAAATTATGAGAATAAAGCGTCTGATGATTATTATGATGt < 1:266454/140‑1 (MQ=255) aataCACGTGAAAAAGATGAAGACTACTTCAAAAAACAACAAGAAATTTTACAAGAAATGGATCAAACATTTGATTCAAATGATGGTACAACTGTGCAAAATTATGAGAATAAAGCGTCTGATGATTATTATGATGTAAAc < 1:337492/141‑1 (MQ=255) acacGTGAAAAAGATGAAGACTACTTCAAAAAACAACAAGAAATTTTACAAGAAATGGATCAAACATTTGATTCAAATGATGGTACAACTGTGCAAAATTATGAGAATAAAGCGTCTGATGATTATTATGATGTAAACGat > 2:192547/1‑141 (MQ=255) acGTGAAAAAGATGAAGACTACTTCAAAAAACAACAAGAAATTTTACAAGAAATGGATCAAACATTTGATTCAAATGATGGTACAACTGTGCAAAATTATGAGAATAAAGCGTCTGATGATTATTATGATGTAAACGatat > 1:385041/1‑141 (MQ=255) cGTGAAAAAGATGAAGACTACTTCAAAAAACAACAAGAAATTTTACAAGAAATGGATCAAACATTTGATTCAAATGATGGTACAACTGTGCAAAATTATGAGAATAAAGCGTCTGATGATTATTATGATGTAAACGATAtt > 2:388041/1‑141 (MQ=255) cGTGAAAAAGATGAAGACTACTTCAAAAAACAACAAGAAATTTTACAAGAAATGGATCAAACATTTGATTCAAATGATGGTACAACTGTGCAAAATTATGAGAATAAAGCGTCTGATGATTATTATGATGTAAACGATAtt > 2:104748/1‑141 (MQ=255) | AGAAAGTAACAGTAAGCCATTTATGGAAGAAAATCAAAACGATGAGATAGTTATAAAAGAAGATTCATATAATCCATTCGTAACGAAAACATCTGAAAGTTTAATAGCTGATGAT‑GAATCTTCTGGTTATAATAATACACGTGAAAAAGATGAAGACTACTTCAAAAAACAACAAGAAATTTTACAAGAAATGGATCAAACATTTGATTCAAATGATGGTACAACTGTGCAAAATTATGAGAATAAAGCGTCTGATGATTATTATGATGTAAACGATATT > USA300TCH1516_ALE/1324347‑1324626 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 22 ≤ ATCG/ATCG < 37 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |