| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | USA300TCH1516_ALE | 745,728 | A→G | 17.4% | K9E (AAA→GAA) | USA300HOU_RS03615 → | putative transcriptional regulatory protein |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | USA300TCH1516_ALE | 745,728 | 0 | A | G | 17.4% | 54.9 / 6.1 | 28 | K9E (AAA→GAA) | USA300HOU_RS03615 | putative transcriptional regulatory protein |
| Reads supporting (aligned to +/- strand): ref base A (10/13); new base G (3/2); total (13/15) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 6.39e-01 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.70e-01 | |||||||||||
ACAGTTTGAAGAAATCGTAGTTCAATAATGTTAATTGTGAAAATGTAT‑‑‑‑‑‑ATAAACATAAAAAAATCATGTATAATATATGTTGTTAATTAAACAGTTCGAAAGCGAGATGACATTATGGGACGTAAATGGAATAACATTAAAGAAAAAAAGGCCCAAAAAGATAAAAACACAAGTAGAATATATGCGAAATTTGGTAAGGAGATTTATGTTGCAGCAAAATCTGGTGAACCCAATCCAGAATCTAACCAAGCTTTAAGGTTGGTGCTTGA > USA300TCH1516_ALE/745590‑745858 | aCAGTTTGAAGAAATCGTAGTTCAATAATGTTAATTGTGAAAATGTAT‑‑‑‑‑‑ATAAACATAAAAAAATCATGTATAATATATGTTGTTAATTAACCAGTTCGAAAGCGAGATGACATTATGGGACGTAAATGGAATAACATTaa < 2:431251/140‑1 (MQ=255) gTTTGAAGAAATCGTAGTTCAATAATGTTAATTGTGAAAATGTAT‑‑‑‑‑‑ATAAACATAAAAAAATCATGTATAATATATGTTGTTAATTAAACAGTTCGAAAGCGAGATGACATTATGGGACGTAAATGGAATAACATTAAAGa < 1:63932/140‑1 (MQ=255) tGAAGAAATCGTATTTCAATAATGTTAATTGTGAAAATGTAT‑‑‑‑‑‑CTAAACATAAAAAAATCCTGTATAATATATGTTGTTAATTAAACAGTTCGAAAGCGAGATGACATTATGGGACGTAAATGGAATAACATTAAAGaaac > 2:168098/1‑139 (MQ=255) aTCTTAGTTAAATAATTTTAATTTTGAAAATGTAT‑‑‑‑‑‑ATAAACATAAAAAAATCATGTATAATATATGTTGTTAATTAAACAGTTCGAAAGCGAGATGACATTATGGGACGTAAATGGAATAACATTAAAGAAAAAAAGGcc < 2:422213/140‑1 (MQ=255) aTCGTAGTTCAATAATGTTAATTGTGCAAATGTAT‑‑‑‑‑‑ATAAAGATAAAAAAATCATGTATAATATATGTTGTTAATTAAACAGTTCGAAAGCGAGATGACATTATGGGACGTAAGTGGAATCACATTAAAGAAAAAAAggga > 2:139961/1‑138 (MQ=255) aTCGTAGTTCAATAATGTTAATTGTGAAAATGTAT‑‑‑‑‑‑ATAAACATAAAAAAATCATGTATAATATATGTTGTTAATTAAACAGTTCGAAAGCGAGATGACATTATGGGACGTAAATGGAATAACATTAAAGAAAAAAAGGcc < 1:204708/140‑1 (MQ=255) ttCAATCTTGTGAATTGTGAAAACGTAT‑‑‑‑‑‑ATAAACATAAAAAAATCATGTATAATATATGTTGTTAATTAAACAGTTCGAAAGCGAGATGACATTATGGGACGTAAATGGAATAACATTAAAGAAAAAAAGGCCCAAAAAg < 2:377992/140‑1 (MQ=255) atGTTAATTGTGAAAATGTATATAAACATAAACATAAAAAAATCATGTATAATATATGTTGTTAATTAAACAGTTCGAAAGCGAGATGACATTATGGGACGTAAATGGAATAACATTAAAGAAAAAAAGGCCCAAAAAGa < 2:473983/140‑1 (MQ=255) atGTTAATTGTGAAAATGTATATAAAAATAAACAAAAAAAAATCATGTATAATATATGTTGTTAATTAAACAGTTCGAAAGCGAGATGACATTATGGGACGTAAATGGAATAACATTAAAGAAAAAAAGGCCCAAAAAGa < 2:473959/140‑1 (MQ=255) tAATTGTGAAAATGTAT‑‑‑‑‑‑ATAAACATAAAAAAATCATGTATAATATATGTTGTTAATTAAACAGTTCGAAAGCGAGATGACATTATGGGAAGTAAATGGAATAACATTAAAGAAAAAAAGGCCCAAAAAGATaaaaaaaaa > 1:521735/1‑136 (MQ=255) aaaaTGTAT‑‑‑‑‑‑ATAAACATAAAAAAATCATGTATAATATATGTTGTTAATTAAACAGTTCGAAAGCGAGATGACATTATGGGACGTAAATGGAATAACATTAAAGAAAAAAAGGCCCAAAAAGATAAAAACACAAGTAGAat > 1:298722/1‑140 (MQ=255) tGTAT‑‑‑‑‑‑ATAAACATAAAAAAATCATGTATAATATATGTTGTTAATTAAACAGTTCGAAAGCGAGATGACATTATGGGACGTAAATGGAATAACATTGAAGAAAAAAAGGCCCAAAAAGATAAAAACACAAGTAGAatatat > 2:458108/1‑140 (MQ=255) tGTAT‑‑‑‑‑‑ATAAACATAAAAAAATCATGTATAATATATGTTGTTAATTAAACAGTTCGAAAGCGAGATGACATTATGGGACGTAAATGGAATAACATTGAAAAAAAAAAGGCCCAAAAAGATAAAAACACAAGTAGAatatat > 1:119176/1‑140 (MQ=255) aacataaCATAAAAAATTGATGTATAACTTATGTTGTTAATTAAACAGTTCGAAAGCGAGATGACATTATGGGACGTAAACGGAATAACATTAAAGAAAAAAAGGCCCAAAAAGATAAAAACACAAGTAGAATATATGCg < 2:369400/135‑1 (MQ=255) aaaaaaTCATGTATAATATATGTTGTTAATTAAACAGTTCGAAAGCGAGATGACATTATGAGACGTAAATGGAATAACATTAAAGAAAAAAAGGCCCAAAAAGATAAAAACACAAGTAGAATATATGAGCAACTTGGTaa > 2:1217/1‑140 (MQ=255) aaaaTCATGTATAATATATGTTGCTTCTAAATTAGTTCGAAAGCGAGATGACATTATGGGACGTAAATGGAATAACATTGAAGAAAAAAAGGCCCAAAGAGAGAAAAACACAAGTAGAATATATGCGAAATTTGAGAAgg > 2:529353/1‑140 (MQ=255) cATGAATAATATAATTTTATAATAAAACGTTTCAAAAGCGAGATAACATTATGGAACGTAAAAGAAATAACAATAAAAAAAAAAAGGCTCAAAAAGATAAAAACACAAGTAGATAACCGGCGTGAGTTGGTAAGGAGAtt < 2:391155/140‑1 (MQ=255) tGTATAATATATGTTGTTAATTAAACAGTTCGAAAGCGAGATGACATTATGGGACGTAAATGGAATAACATTAAAGAAAAAAAGGCCCAAAAAGATAAAAACACAAGTAGAATATATGCGAAATTTGGTAAGGAGATTTa > 1:312043/1‑140 (MQ=255) atatGTTGTTAATTAAACAGTTCGAAAGCGAGATGACATTATGGGACGTAAATGGAATAACATTAAAGAAAAAAAGGCCCAAAAAGATAAAAACACAATTAGAATATATGCGAAATTTGGTAAGGAGATTTATGTTgcag < 1:377213/140‑1 (MQ=255) atagGTTGTTAAGTAAACAGTTCGAAAGCGAGATGACATTGTGGGACGTAAATGGAATAACATTAAAGAAAAAAAGGCCCCAAAAGATTTAAACACAAGTAGAATATATGCGAAATTTGGTAAGGAGATTTATGTTgccg < 2:144060/140‑3 (MQ=255) aaaCAGTTCGAAAGCGAGATGACATTATGGGACGTAAATGGAATAACATTAAAGAAAAAAAGGCCCAAAAAGATAAAAACACAAGTAGAATATATGCGAAATTTGGTAAGGAGATTTATGTTGCAGCAAAATCTGGTGaa > 1:346846/1‑140 (MQ=255) aaaCAGTTCGAAAGCGAGATGACATTATGGGACGTAAATGGAATAACATTAAAGAAAAAAAGGCCCAAAAAGATAAAAACACAAGTAGAATATATGCGAAATTTGGTAAGGAGATTTATGTTGCAGCAAAATCTGGTGaa > 1:115867/1‑140 (MQ=255) ttCGAAAGCGAGATGACATTATGGGACGTAAATGGAATAACATTAAAGAAAAAAAGGCCCAAAAAGATAAAAACACAAGTAGAATATATGCGAAATTTGGTAAGGAGATTTATGTTGCAGCAAAATCTGGTGAACCCAAt > 1:528300/1‑140 (MQ=255) gCGAGATGACATTATGGGACGTAAATGGAATAACATTAAAGAAAAAAAGGCCCAAAAAGATAAAAACACAAGTAGAATATATGCGAAATTTGGTAAGGAGATTTATGTTGCAGCAAAATCTGGTGAACCCAATCCAGAAt < 1:406693/140‑1 (MQ=255) cGAGATGACATTATGGGACGTAAATGGAATAACATTAAAGAAAAAAAGGCTCAAAAAGATAAAAACACAAGTAGAATATATGCGAAATTTGGTAAGGAGATTTATGTTGCAGCAAAATCTGGTGAAGCCAATCCAGAATc > 2:186080/1‑140 (MQ=255) tGGAATAACATTAAAGAAAAAAAGGCCCAAAAAGATAAAAACACAAGTAGAATATATGCGAAATTTGGTAAGGAGATTTATGTTGCAGCAAAATCTGGTGAACCCAATCCAGAATCTAACCAAGCTTTAAGGTTGGTGCt < 2:312043/140‑1 (MQ=255) gtaacaaCATTAAAGAAAAAAAGGCCCAAAAAGATAACAACACACGTAGGATATATGCGAAATTTGGTAAGGAGATTTATGTTGCAGCAAAATCTGGTGAACCCAATCCAGAATCTAACCAAGCTGTAAGGTTGGTGCtt < 2:376074/135‑1 (MQ=255) aaTAACATTGAAGAAAAAAAGGCCCAAAAAGATAAAAACACAAGTAGAATATATGCGAAATTTGGTAAGGAGATTTATGTTGCAGCAAAATCTGGTGAACCCAATCCAGAATCTAACCCAGCTGTAAGGTTGGTGCTTGa < 2:119176/140‑1 (MQ=255) aaTAACATTGAAGAAAAAAAGGCCCAAAAAGATAAAAACACAAGTAGAATATATGCGAAATTTGGTAAGGAGATTTATGTTGCAGCAAAATCTGGTGAACCCAATCCAGAATCTAACCAAGCTTTAAGGTTGGTGCTTGa < 1:458108/140‑1 (MQ=255) | ACAGTTTGAAGAAATCGTAGTTCAATAATGTTAATTGTGAAAATGTAT‑‑‑‑‑‑ATAAACATAAAAAAATCATGTATAATATATGTTGTTAATTAAACAGTTCGAAAGCGAGATGACATTATGGGACGTAAATGGAATAACATTAAAGAAAAAAAGGCCCAAAAAGATAAAAACACAAGTAGAATATATGCGAAATTTGGTAAGGAGATTTATGTTGCAGCAAAATCTGGTGAACCCAATCCAGAATCTAACCAAGCTTTAAGGTTGGTGCTTGA > USA300TCH1516_ALE/745590‑745858 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 13 ≤ ATCG/ATCG < 27 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |