| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | minE | 2,779,385 | G→C | 100% | A120A (GCG→GCC) | metH → | homocysteine‑N5‑methyltetrahydrofolate transmethylase, B12‑dependent |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | minE | 2,779,385 | 0 | G | C | 100.0% | 27.4 / NA | 13 | A120A (GCG→GCC) | metH | homocysteine‑N5‑methyltetrahydrofolate transmethylase, B12‑dependent |
| Reads supporting (aligned to +/- strand): ref base G (0/0); new base C (0/13); total (0/13) | |||||||||||
| Rejected as polymorphism: Frequency below/above cutoff threshold. | |||||||||||
| Rejected as polymorphism: Variant not supported by required number of reads on each strand. | |||||||||||
TCCCTGTCGGCGGAAATCAACTTTGCGGCGGCGAAACTGGCGCGAGCTTGTGCTGACGAGTGGACCGCGCGCACGCCAGAGAAACCGCGCTACGTTGCCGGTGTTCTCGGCCCGACCAACCGCACGGCGTCTAT > minE/2779317‑2779450 | tCCCTGTCGGCGGAAATCAACTTTGCGGCGGCGAAACTGGCGCGAGCTTGTGCTGACGAGTGGACcgcg > 1:444320/1‑69 (MQ=255)tCCCTGTCGGCGGAAATCAACTTTGCGGCGGCGAAACTGGCGCGAGCTTGTGCTGACGAGTGGACcgcg > 1:2525318/1‑69 (MQ=255)tCCCTGTCGGCGGAAATCAACTTTGCGGCGGCGAAACTGGCGCGAGCTTGTGCTGACGAGTGGACcgcg > 1:2682262/1‑69 (MQ=255)tCCCTGTCGGCGGAAATCAACTTTGCGGCGGCGAAACTGGCGCGAGCTTGTGCTGACGAGTGGACcgcg > 1:3005824/1‑69 (MQ=255)tCCCTGTCGGCGGAAATCAACTTTGCGGCGGCGAAACTGGCGCGAGCTTGTGCTGACGAGTGGACcgcg > 1:3027703/1‑69 (MQ=255) ccTGTCGGCGGAAATCAACTTTGCGGCGGCGAAACTGGCGCGAGCTTGTGCTGACGAGTGGACcgcgcg > 1:78965/1‑69 (MQ=255) ggcggAAATCAACTTTGCGGCTGCGAAACTGGCGCGCGCCTGTGCTGACGAGTGGACTGCCCGCACg < 1:3100227/67‑1 (MQ=255) ggcggAAATCAACTTTGCGGCGGCGAAACTGGCGCGCGCCTGTGCTGACGAGTGGACTGCCCGCACg < 1:877355/67‑1 (MQ=255) ggcggAAATCAACTTTGCGGCGGCGAAACTGGCGCGCGCCTGTGCTGACGAGTGGACTGCCCGCACg < 1:1071217/67‑1 (MQ=255) ggcggAAATCAACTTTGCGGCGGCGAAACTGGCGCGCGCCTGTGCTGACGAGTGGACTGCCCGCACg < 1:451267/67‑1 (MQ=255) ggcggAAATCAACTTTGCGGCGGCGAAACTGGCGCGCGCCTGTGCTGACGAGTGGACTGCCCGCACg < 1:3263527/67‑1 (MQ=255) ggcggAAATCAACTTTGCGGCGGCGAAACTGGCGCGCGCCTGTGCTGACGAGTGGACTGCCCGCACg < 1:1951731/67‑1 (MQ=255) ggcggAAATCAACTTTGCGGCGGCGAAACTGGCGCGCGCCTGTGCTGACGAGTGGACTGCCCGCACg < 1:1248205/67‑1 (MQ=255) tCAACTTTGCGGCGGCGAAACTGGCGCGCGCCTGTGCTGACGAGTGTACTGCCCGCACg < 1:3283854/59‑1 (MQ=255) gcgcgcCTGTGCTGACGAGTGGACTGCCCGCACGCCGGAGAAACCGCGCTACGTTGCCGGTGTtctc < 1:2725562/67‑1 (MQ=255) gcgcgcCTGTGCTGACGAGTGGACTGCCCGCACGCCGGAGAAACCGCGCTACGTTGCCGGTGTtctc < 1:346335/67‑1 (MQ=255) gcgcgcCTGTGCTGACGAGTGGACTGCCCGCACGCCGGAGAAACCGCGCTACGTTGCCGGTGTtctc < 1:1898652/67‑1 (MQ=255) gcgcgcCTGTGCTGACGAGTGGACTGCCCGCACGCCGGAGAAACCGCGCTACGTTGCCGGTGTtctc < 1:726593/67‑1 (MQ=255) gcgcgcCTGTGCTGACGAGTGGACTGCCCGCACGCCGGAGAAACCGCGCTACGTTGCCGGTGTtctc < 1:1854301/67‑1 (MQ=255) cgcgcgCACGCCAGAGAAACCGCGCTACGTTGCCGGTGTTCTCGGCCCGACCAACCGCACGGCGTCTAt < 1:313884/69‑1 (MQ=255) cgcgcgCACGCCAGAGAAACCGCGCTACGTTGCCGGTGTTCTCGGCCCGACCAACCGCACGGCGTCTAt < 1:2146970/69‑1 (MQ=255) | TCCCTGTCGGCGGAAATCAACTTTGCGGCGGCGAAACTGGCGCGAGCTTGTGCTGACGAGTGGACCGCGCGCACGCCAGAGAAACCGCGCTACGTTGCCGGTGTTCTCGGCCCGACCAACCGCACGGCGTCTAT > minE/2779317‑2779450 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 14 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 36 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |