Predicted mutation | |||||||
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evidence | seq id | position | mutation | freq | annotation | gene | description |
RA | Exported | 1,792,363 | C→T | 11.7% | G249G (GGC→GGT) | gabT → | 4‑aminobutyrate aminotransferase, PLP‑dependent |
Read alignment evidence... | |||||||||||
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seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
* | Exported | 1,792,363 | 0 | C | T | 11.7% | 132.6 / 7.4 | 51 | G249G (GGC→GGT) | gabT | 4‑aminobutyrate aminotransferase, PLP‑dependent |
Reads supporting (aligned to +/- strand): ref base C (22/23); new base T (3/3); total (25/26) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 8.77e-01 |
TCTGTGTGACGAGCACGGGATCATGCTGATTGCCGATGAAGTGCAGAGCGGCGCGGGGCGTACCGGCACGCTGTTTGCGATGGAGCAGATGGGCGTTGCGCCGGATCTTACCACCTTTGCGAAATCGATCGCG > Exported/1792297‑1792429 | tctGTGTGACGAGCACGGGATCATGCTGATTGCCGATGAAGTGCAGAGCGGCGCGGGGCGTACCGGCACGc > 1:1664302/1‑71 (MQ=255) ctGTGCGACGAGCACGGTATTGTGATGATTGCTGATGAAGTGCAAAGCGGCTTTGCGCGTACCGGTAAGCt < 1:4652432/71‑1 (MQ=255) tgtgtgACGAGCACGGGATCATGCTGATTGCCGATGAAGTGCAGAGCGGCGCGGGGCGTACCGGCACGCTg > 1:4684396/1‑71 (MQ=255) tgtgACGAGCACGGGATCATGCTGATTGCCGATGAAGTGCAGAGCGGCGCGGGGCGTACCGGCACGCTg < 1:1308500/69‑1 (MQ=255) tgtgACGAGCACGGGATCATGCTGATTGCCGATGAAGTGCAGAGCGGCGCGGGGCGTACCGGCACGCTg < 1:849431/69‑1 (MQ=255) tgtgACGAGCACGGGATCATGCTGAATGCCGATGAAGTGCAGAGCGGCGCGGGGCGTACCGGCACGCt < 1:4720948/68‑1 (MQ=255) gcgACGAGCACGGTATTGTGATGATTGCTGATGAAGTGCAAAGCGGCTTTGCGCGTACCGGTAAGCTGttt > 1:4831320/3‑71 (MQ=255) gatgAGCACGGTATTGTGATGATTGCTGATGAAGTGCAAAGCGGCTTTGCGCGTACCGGTAAGCTGTTTGc < 1:893522/68‑1 (MQ=255) aCGAGCACGGGATCATGCTGATTGCCGATGAAGTGCAGAGCGGCGCGGGGCGTACCGGCACGCTGTTTGc < 1:782166/70‑1 (MQ=255) aCGAGCACGGGATCATGCTGATTGCCGATGAAGTGCAGAGCGGCGCGGGGCGTACCGGCACGCTGTTTGc < 1:2704639/70‑1 (MQ=255) gAGCACGGTATTGTGATGATTGCTGATGAAGTGCAAAGCGGCTTTGCGCGTACCGGTAAGCTGtt > 1:5575742/1‑65 (MQ=255) gCACGGTATTGTGATGATTGCTGATGAAGTGCAAAGCGGCTTTGCGCGTACCGGTAAGCTGTTTGCCATgg < 1:5162724/71‑1 (MQ=255) cACGGGATCATGCTGATTGCCGATGAAGTGCAGAGCGGCGCGGGGCGTACCGGCACGCTGTTTGCGATg > 1:2924971/1‑69 (MQ=255) gggATCATGCTGATTGCCGATGAAGTGCAGAGCGGCGCGGGGCGTACCGGCACGCTGTTTGCGATGGAGCa < 1:2439660/71‑1 (MQ=255) tCATGCTGATTGCCGATGAAGTGCAGAGCGGCGCGGGGCGTACCGGCACGCTg < 1:3937224/53‑1 (MQ=255) tCATGCTGATTGCCGATGAAGTGCAGAGCGGCGCGGGGCGTACCGGCACGCTGTTTGCGATGGAGCAGATg > 1:606700/1‑71 (MQ=255) gCTGATTGCCGATGAAGTGCAGAGCGGCGCGGGGCGTACCGGCACGCTGTTTGCGATGGAGCAGa > 1:243532/1‑65 (MQ=255) gCTGATTGCCGATGAAGTGCAGAGCGGCGCGGGGCGTACCGGCACGCTGTTTGCGATGGAGCAGa > 1:1979243/1‑65 (MQ=255) gCTGATTGCCGATGAAGTGCAGAGCGGCGCGGGGCGTACCGGCACGCTGTTTGCGATGGAGCAGa > 1:757240/1‑65 (MQ=255) gCTGATTGCCGATGAAGTGCAGAGCGGCGCGGGGCGTACCGGCACGCTGTTTGCGATGGAGCAGATGGGCg > 1:1003948/1‑71 (MQ=255) gCTGATTGCCGATGAAGTGCAGAGCGGCGCGGGGCGTACCGGCACGCTGTTTGCGATGGAGCAGATGGGCg > 1:3120713/1‑71 (MQ=255) gCTGATTGCCGATGAAGTGCAGAGCGGCGCGGGGCGTACCGGCACGCTGTTTGCGATGGAGCAGATGGGCg > 1:23092/1‑71 (MQ=255) cTGATTGCCGATGAAGTGCAGAGCGGCGCGGGGCGTACCGGCACGCTGTTTGCGATGGAGCAGATGGGCg < 1:4467188/70‑1 (MQ=255) cTGATTGCCGATGAAGTGCAGAGCGGCGCGGGGCGTACCGGCACGCTGTTTGCGATGGAGCAGATGGGCGt < 1:1239879/71‑1 (MQ=255) tGATTGCCGATGAAGTGCAGAGCGGCGCGGGGCGTACCGGCACGCTGTTTGCGa > 1:5492579/1‑54 (MQ=255) tGATTGCCGATGAAGTGCAGAGCGGCGCGGGGCGTACCGGCACGCTGTTTGCGATGGAGCAGATGGGCGtt > 1:62374/1‑71 (MQ=255) aTTGCCGATGAAGTGCAGAGCGGCGCGGGGCGTACCGGCACGCTGTTTGCGATGGAGCAGATGGGCGtt < 1:4786949/69‑1 (MQ=255) ttGCCGATGAAGTGCAGAGCGGCGCGGGGCGTACCGGCACGCTGTTTGCGa > 1:5322686/1‑51 (MQ=255) cGATGAAGTGCAGAGCGGCGCGGGGCGTACCGGCACGCTGTTTGCGATgg < 1:3804862/50‑1 (MQ=255) cGATGAAGTGCAGAGCGGCGCGGGGCGTACCGGCACGCTGTTTGCGATgg < 1:4517687/50‑1 (MQ=255) cGATGAAGTGCAGAGCGGCGCGGGGCGTACCGGCACGCTGTTTGCGATGGAGCAGATGGGCGTTGCGCCgg < 1:2118988/71‑1 (MQ=255) cGATGAAGTGCAGAGCGGCGCGGGGAGTACCGGCACGCTGTTTGCGATGGAGCAGATGGGCGTTGCGCCgg < 1:4446443/71‑1 (MQ=255) gATGAAGTGCAGAGCGGCGCGGGGCGTACCGGCACGCTGTTTGCGATGGAGCAGATGGGCGTTGCGCCGGa > 1:1191120/1‑71 (MQ=255) aTGAAGTGCAAAGCGGCTTTGCGCGTACCGGTAAGCTGTTTGCCATGGa > 1:68233/1‑49 (MQ=12) gAAGTGCAGAGCGGCGCGGGGCGTACCGGCACGCTGTTTGCGATGGAGCAGATGGGCGTTGCGCCGGATCt > 1:380934/1‑71 (MQ=255) gAAGTGCAGAGCGGCGCGGGGCGTACCGGCACGCTGTTTGCGATGGAGCAGATGGGCGTTGCGCCGGATCt > 1:4795562/1‑71 (MQ=255) atgTGCAGAGCGGCGCGGGGCGTACCGGCACGCTGTTTGCGATGGAGCAGATGGGCGTTGCGCCGGATc < 1:4160121/67‑1 (MQ=255) aaGTGCAGAGCGGCGCGGGGCGTACCGGCACGCTGTTTGCGATGGAGCAGATGGGCGTTGCGCCGGATCt > 1:3824077/1‑70 (MQ=255) aGTGCAGAGCGGCGCGGGGCGTACCGGCACGCTGTTTGCGATGGAGCAGATGGGCGTTGCGCCGGa < 1:1930109/66‑1 (MQ=255) agagCGGCGCGGGGCGTACCGGCACGCTGTTTGCGATGGAGCAGATGGGCGTTGCGCCGGATCTTaccacc < 1:2033011/71‑1 (MQ=255) agagCGGCGCGGGGCGTACCGGCACGCTGTTTGCGATGGAGCAGATGGGCGTTGCGCCGGATCTTaccacc < 1:3020909/71‑1 (MQ=255) cgcgGGGCGTACCGGCACGCTGTTTGCGATGGAGCAGATGGGCGTTGCGCCGGATCTTACCACCTTTGCGa < 1:3208125/71‑1 (MQ=255) cgcgGGGCGTACCGGCACGCTGTTTGCGATGGAGCAGATGGGCGTTGCGCCGGATCTTACCACCTTTGCGa < 1:3796617/71‑1 (MQ=255) gcgGGGCGTACCGGCACGCTGTTTGCGATGGAGCAGATGGGCGTTGCGCCGGATCTTACCACCTTTGCGa > 1:3979176/1‑70 (MQ=255) cgGGGCGTACCGGCACGCTGTTTGCGATGGAGCAGATGGGCGTTGCGCCGGATCTTACCACCTTTGCGaaa < 1:1877644/71‑1 (MQ=255) gggCGTACCGGCACGCTGTTTGCGATGGAGCAGATGGGCGTTGCGCCGGATCTTACCACCTTTGCGAAatc < 1:4410845/71‑1 (MQ=255) ggCGTACCGGCACGCTGTTTGCGATGGAGCAGATGGGCGTTGCGCCGGATCTTACCACCTTTGCGAAatcg < 1:1273690/71‑1 (MQ=255) ccGGCACGCTGTTTGCGATGGAGCAGATGGGCGTTGCGCCGGATCTTACCACCTTTGCGAAatcga > 1:2699036/1‑66 (MQ=255) ccGGCACGCTGTTTGCGATGGAGCAGATGGGCGTTGCGCCGGATCTTACCACCTTTGCGAAATCGATcgcg > 1:5091698/1‑71 (MQ=255) ccGGCACGCTGTTTGCGATGGAGCAGATGGGCGTTGCGCCGGATCTTACCACCTTTGCGAAATCGATcgcg > 1:1447112/1‑71 (MQ=255) gCACGCTGTTTGCGATGGAGCAGATGGGCGTTGCGCCGGATCTTACCACCTTTGCGAAatcga > 1:2363361/1‑63 (MQ=255) cACGCTGTTTGCGATGGAGCAGATGGGCGTTGCGCCGGATCTTaccacc < 1:3346105/49‑1 (MQ=255) | TCTGTGTGACGAGCACGGGATCATGCTGATTGCCGATGAAGTGCAGAGCGGCGCGGGGCGTACCGGCACGCTGTTTGCGATGGAGCAGATGGGCGTTGCGCCGGATCTTACCACCTTTGCGAAATCGATCGCG > Exported/1792297‑1792429 |
Alignment Legend |
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Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 27 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 36 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |