| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | Exported | 2,780,576 | A→G | 8.6% | E517E (GAA→GAG) | metH → | homocysteine‑N5‑methyltetrahydrofolate transmethylase, B12‑dependent |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | Exported | 2,780,576 | 0 | A | G | 8.6% | 164.7 / 5.3 | 58 | E517E (GAA→GAG) | metH | homocysteine‑N5‑methyltetrahydrofolate transmethylase, B12‑dependent |
| Reads supporting (aligned to +/- strand): ref base A (32/21); new base G (2/3); total (34/24) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 6.40e-01 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.00e+00 | |||||||||||
GCGCACGGAAAATCGAGATTTGCCGTCGGGCGTACAAAATCCTCACCGAAGAGGTTGGCTTCCCGCCAGAAGATATCATCTTCGACCCAAACATCTTCGCGGTCGCAACTGGCATTGAAGAGCACAACAACTACGCG > Exported/2780506‑2780642 | gcgcACGGAAAATCGAGATTTGCCGTCGGGCGTACAAAATCCTCACCGAAGAGGTTGGCTTCCCGCCagaa < 1:3072830/71‑1 (MQ=255)gcgcACGGAAAATCGAGATTTGCCGTCGGGCGTACAAAATCCTCACCGAAGAGGTTGGCTTCCCGCCagaa < 1:4298257/71‑1 (MQ=255)gcgcACGGAAAATCGAGATTTGCCGTCGGGCGTACAAAATCCTCACCGAAGAGGTTGGCTTCCCGCCagaa < 1:565434/71‑1 (MQ=255)gcgcACGGAAAATCGAGATTTGCCGTCGGGCGTACAAAATCCTCACCGAAGAGGTTGGCTTCCCGCCagaa < 1:2556465/71‑1 (MQ=255)gcgcACGGAAAATCGAGATTTGCCGTCGGGCGTACAAAATCCTCACCGAAGAGGTTGGCTTCCCGCCagaa < 1:4749308/71‑1 (MQ=255) ggAAAATCGAGATTTGCCGTCGGGCGTACAAAATCCTCACCGAAGAGGTTGGCTTCCCGCCAGAAGATatc < 1:1462548/71‑1 (MQ=255) aaTCGAGATTTGCCGTCGGGCGTACAAAATCCTCACCGAAGAGGTTGGCTTCCCGCCAGAAGATATCATCt < 1:1205069/71‑1 (MQ=255) aaTCGAGATTTGCCGTCGGGCGTACAAAATCCTCACCGAAGAGGTTGGCTTCCCGCCAGAAGATATCATCt < 1:321419/71‑1 (MQ=255) aaTCGAGATTTGCCGTCGGGCGTACAAAATCCTCACCGAAGAGGTTGGCTTCCCGCCAGAAGATATCATCt < 1:2619360/71‑1 (MQ=255) tttGCCGTCGGGCGTACAAAATCCTCACCGAAGAGGTTGGCTTCCCGCCAGAAGATATCATCTTCGAcaca < 1:2248491/71‑1 (MQ=255) tttGCCGTCGGGCGTACAAAATCCTCACCGAAGAGGTTGGCTTCCCGCCAGAAGATATCATCTTCGACCCa < 1:4738133/71‑1 (MQ=255) ttGCCGTCGGGCGTACAAAATCCTCACCGAAGAGGTTGGCTTCCCGCCAGAAGATatc < 1:4353046/58‑1 (MQ=255) ttGCCGTCGGGCGTACAAAATCCTCACCGAAGAGGTTGGCTTCCCGCCAGAAGATatc < 1:600949/58‑1 (MQ=255) ccGTCGGGCGTACAAAATCCTCACCGAAGAGGTTGGCTTCCCGCCAGAAGATATCATCTTCGACCCAAACa > 1:415578/1‑71 (MQ=255) cAAAATCCTCACCGAAGAGGTTGGCTTCCCGCCAGAAGATATCATCTTCGACCCAAACATCTTCGCGGTCg > 1:4120214/1‑71 (MQ=255) cAAAATCCTCACCGAAGAGGTTGGCTTCCCGCCAGAAGATATCATCTTCGACCCAAACATCTTCGCGGTCg > 1:2820538/1‑71 (MQ=255) cAAAATCCTCACCGAAGAGGTTGGCTTCCCGCCAGAAGATATCATCTTCGACCCAAACATCTTCGCGGTCg > 1:3703871/1‑71 (MQ=255) cAAAATCCTCACCGAAGAGGTTGGCTTCCCGCCAGAAGATATCATCTTCGACCCAAACATCTTCGCGGTCg > 1:2689126/1‑71 (MQ=255) cAAAATCCTCACCGAAGAGGTTGGCTTCCCGCCAGAAGATATCATCTTCGACCCAAACATCTTCGCGGTCg > 1:3993863/1‑71 (MQ=255) cAAAATCCTCACCGAAGAGGTTGGCTTCCCGCCAGAAGATATCATCTTCGACCCAAACATCTTCGCGGTCg > 1:3687712/1‑71 (MQ=255) cAAAATCCTCACCGAAGAGGTTGGCTTCCCGCCAGAAGATATCATCTTCGACCCAAACATCTTCGCGGTCg > 1:3585028/1‑71 (MQ=255) aaaaTCCTCACCGAAGAGGTTGGCTTCCCGCCAGAAGATATCATCTTCGACCCAAACATCTTCGCGGTCGc < 1:1602277/71‑1 (MQ=255) aaaTCCTCACCGAAGAGGTTGGCTTCCCGCCAGAAGATATCATCTTCGACCCAAACATCTTCGCGGTCGc < 1:2415083/70‑1 (MQ=255) aaaTCCTCACCGAAGAGGTTGGCTTCCCGCCAGAAGATATCATCTTCGACCCAAACATCTTCGCGGTCGCa < 1:2397547/71‑1 (MQ=255) aaaTCCTCACCGAAGAGGTTGGCTTCCCGCCAGAAGATATCATCTTCGACCCAAACATCTTCGCGGTCGCa < 1:892246/71‑1 (MQ=255) aTCCTCACCGAAGAGGTTGGCTTCCCGCCAGAAGATatcat > 1:2605939/1‑41 (MQ=255) aTCCTCACCGAAGAGGTTGGCTTCCCGCCAGAAGATGTCATCTTCGa > 1:311000/1‑47 (MQ=255) aTCCTCACCGAAGAGGTTGGCTTCCCGCCAGAAGATATCATCTTCGa > 1:3442274/1‑47 (MQ=255) aTCCTCACCGAAGAGGTTGGCTTCCCGCCAGAAGATATCATCTTCGa > 1:2415205/1‑47 (MQ=255) cTCACCGAAGAGGTTGGCTTCCCGCCAGAAGATATCATCTTCGACCCAAACATCTTcgcg < 1:3511738/60‑1 (MQ=255) cTCACCGAAGAGGTTGGCTTCCCGCCAGAAGATATCATCTTCGACCCAAACATCTTCGCGGTCGCAACTgg < 1:2134796/71‑1 (MQ=255) cTCACCGAAGAGGTTGGCTTCCCGCCAGAAGATATCATCTTCGACCCAAACATCTTCGCGGTCGCAACTgg < 1:208824/71‑1 (MQ=255) aCCGAAGAGGTTGGCTTCCCGCCAGAAGATATCATCTTCGACCCAAACATCTTcg > 1:2266355/1‑55 (MQ=255) aCCGAAGAGGTTGGCTTCCCGCCAGAAGATATCATCTTCGACCCAAACATCTTCGCGGTCGCAACTGGCAt > 1:2788352/1‑71 (MQ=255) aCCGAAGAGGTTGGCTTCCCGCCAGAAGATATCATCTTCGACCCAAACATCTTCGCGGTCGCAACTGGCAt > 1:1418144/1‑71 (MQ=255) ggAACAGGTGGGCTTCCCGCCCGAGGACATCATCTTCGACCCGAACATCTTCGCCATCGCCACCGGCAtcg < 1:2788306/70‑3 (MQ=255) ggAACAGGTGGGCTTCCCGCCCGAGGACATCATCTTCGACCCGAACATCTTCGCCATCGCCACCGGCAtcg < 1:5168310/70‑3 (MQ=255) cGAAGAGGTTGGCTTCCCGCCAGAAGATATCATCTTCGACCCAAACATCTTCGCGGTCGCAACTGGCATTg < 1:2966179/71‑1 (MQ=255) cGAAGAGGTTGGCTTCCCGCC‑‑AAGATATCATCTTCGACCCAAACATCTTCGCGGTCGCAACTGGCATTGaa < 1:2895127/71‑1 (MQ=255) gAAGAGGTTGGCTTCCCGCCAGAAGATATCATCTTCGACCCAAACATCTTCGCGGTCGCAACTGGCATTg > 1:3115903/1‑70 (MQ=255) agagGTTGGCTTCCCGCCAGAAGATATCATCTTCGACCCAAACATCTTCGCGGTCGCAACTGGCATTg > 1:2929685/1‑68 (MQ=255) agagGTTGGCTTCCCGCCAGAAGATATCATCTTCGACCCAAACATCTTCGCGGTCGCAACTGGCATTg > 1:2162596/1‑68 (MQ=255) agGTGGGCTTCCCGCCCGAGGACATCATCTTCGACCCGAACATCTTCGCCATCGCCACCGGCAtcg < 1:2439643/66‑3 (MQ=255) ttGGCTTCCCGCCAGAAGATATCATCTTCGACCCAAACATCTTCGCGGTCGCAACTGGCATTGAAGAGcac < 1:2014448/71‑1 (MQ=255) tGGCTTCCCGCCAGAAGATATCATCTTCGACCCAAACATCTTCGCGGTCGCAACTGGCATTGAAGAGcac > 1:1681936/1‑70 (MQ=255) tGGCTTCCCGCCAGAAGATATCATCTTCGACCCAAACATCTTCGCGGTCGCAACTGGCATTGAAGAGcac > 1:361598/1‑70 (MQ=255) tGGCTTCCCGCCAGAAGATATCATCTTCGACCCAAACATCTTCGCGGTCGCAACTGGCATTGAAGAGcac > 1:1024957/1‑70 (MQ=255) tGGCTTCCCGCCAGAAGATATCATCTTCGACCCAAACATCTTCGCGGTCGCAACTGGCATTGAAGAGcac > 1:1634863/1‑70 (MQ=255) tGGCTTCCCGCCAGAAGATATCATCTTCGACCCAAACATCTTCGCGGTCGCAACTGGCATTGAAGAGcac > 1:271596/1‑70 (MQ=255) tGGCTTCCCGCCAGAAGATATCATCTTCGACCCAAACATCTTCGCGGTCGCAACTGGCATTGAAGAGca > 1:2994662/1‑69 (MQ=255) gCTTCCCGCCCGAGGACATCATCTTCGACCCGAACATCTTCGCCATCGCCACCGGCATCGAAGAGcacga > 1:3176332/1‑68 (MQ=255) gCTTCCCGCCCGAGGACATCATCTTCGACCCGAACATCTTCGCCATCGCCACCGGCATCGAAGAGcacga > 1:4945708/1‑68 (MQ=255) gCTTCCCGCCAGAAGATATCATCTTCGACCCAAACATCTTCGCGGTCGCAACTGGCATTGAAGAGCacaac < 1:1981611/71‑1 (MQ=255) ttCCCGCCAGAAGATATCATCTTCGACCCAAACATCTTCGCGGTCGCAACTgg < 1:1431312/53‑1 (MQ=255) ttCCCGCCAGAAGATATCATCTTCGACCCAAACATCTTCGCGGTCGCAACTgg < 1:5149127/53‑1 (MQ=255) cccGCCAGAAGATATCATCTTCGACCCAAACATCTTCGCGGTCGCAAc > 1:1234313/1‑48 (MQ=255) cccGCCAGAAGATATCATCTTCGACCCAAACATCTTCGCGGTCGCAAc > 1:342859/1‑48 (MQ=255) cccGCCAGAAGATATCATCTTCGACCCAAACATCTTCGCGGTCGCAAc > 1:1049197/1‑48 (MQ=255) cccGCCAGAAGATATCATCTTCGACCCAAACATCTTCGCGGTCGCAAc > 1:383990/1‑48 (MQ=255) cccGCCAGAAGATATCATCTTCGACCCAAACATCTTCGCGGTCGCAAc > 1:3667153/1‑48 (MQ=255) cccGCCAGAAGATATCATCTTCGACCCAAACATCTTCGCGGTCGCAAc > 1:3082653/1‑48 (MQ=255) cAGAAGATATCATCTTCGCCCCAAACATCTTCGCGGTCGCAACTGGCATTGAAGAGCACAACAACTAcgcg > 1:5021432/1‑71 (MQ=255) cAGAAGATATCATCTTCGACCCAAACATCTTCGCGGTCGCAACTGGCATTGAAGAGCACAACAACTAcgcg > 1:2132151/1‑71 (MQ=255) | GCGCACGGAAAATCGAGATTTGCCGTCGGGCGTACAAAATCCTCACCGAAGAGGTTGGCTTCCCGCCAGAAGATATCATCTTCGACCCAAACATCTTCGCGGTCGCAACTGGCATTGAAGAGCACAACAACTACGCG > Exported/2780506‑2780642 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 21 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 36 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |