Predicted mutation | ||||||
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evidence | seq id | position | mutation | annotation | gene | description |
RA | NC_000913 | 3,987,586 | 2 bp→GC | coding (814‑815/963 nt) | hemC ← | porphobilinogen deaminase |
Read alignment evidence... | |||||||||||
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seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
* | NC_000913 | 3,987,586 | 0 | C | G | 99.3% | 395.5 / NA | 150 | R272A (CGG→GCG) | hemC | porphobilinogen deaminase |
Reads supporting (aligned to +/- strand): ref base C (0/0); major base G (80/69); minor base T (1/0); total (81/69) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.00e+00 | |||||||||||
* | NC_000913 | 3,987,587 | 0 | G | C | 98.7% | 394.4 / NA | 150 | R272A (CGG→GCG) | hemC | porphobilinogen deaminase |
Reads supporting (aligned to +/- strand): ref base G (0/1); major base C (79/68); minor base A (2/0); total (81/69) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 5.00e-01 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.00e+00 |
Only 100 of 152 total aligned reads displayed.
ATCCCCATTTGTTCGGCATCTTGCGGCGCACCGCGGCGTTCACCGCGAATAATCTGCGAACCGTCCGGCCGGCCGACCAGCGCACGCAGCCAGATTTCGCCATCAATAAGCTCGGCGTAGCTACCAATTGGCACCTGACA > NC_000913/3987517‑3987656 || aTCCCCATTTGTTCGGCATCTTGCGGCGCACCGCGGCGGTCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCGa > 2:3020157/1‑76 (MQ=255) cccATTTGTTCGGCATCTTGCGGCGCACCGCGGCGTTCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCa < 1:2353290/76‑1 (MQ=255) cccATTTGTTCGGCATCTTGCGGCGCACCGCGGCGTTCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCa < 1:5603555/76‑1 (MQ=255) cATTTGTTCGGCATCTTGCGGCGCACCGCGGCGTTCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCAgc < 2:2534976/76‑1 (MQ=255) cATTTGTTCGGCATCTTGCGGCGCACCGCGGCGTTCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCCAccccg > 2:153636/1‑73 (MQ=255) cATTGGTGCGGCATCTGGGGCCGCACGGCGGCGTTCACCGCGAATAATCTGCGACCCGTCCGGCGCGCCGACCAgc < 2:370114/76‑1 (MQ=255) ttGTTCGGCATCTTGCGGCGCACCGCGGCGTTCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCAgcgcc > 2:1345159/1‑75 (MQ=255) tggTTCGGCATCTTGCGGCGCACCGCGGCGTTCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCAGcgca < 2:5124225/74‑1 (MQ=255) tGTTCGGCATCTTGCGGCGCACCGCGGCGTTCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCAGcgcac < 2:4485118/76‑1 (MQ=255) tGTTCGGCATCTTGCGGCGCACCGCGGCGTTCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCAGcgcac > 2:3550655/1‑76 (MQ=255) gTTCGGCATCTTGCGGCGCACCGCGGCGTTCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCAGcgcacg < 1:3759180/76‑1 (MQ=255) tCGGCATCTTGCGGCGCACCGCGGCGTTCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCAGcgcacgca < 1:5318625/76‑1 (MQ=255) cGGCATCTTGCGGCGCACCGCGGCGTTCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAg > 2:4174518/1‑76 (MQ=255) ggCATCTTGCGGCGCACCGCGGCGTTCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGc < 1:2862601/76‑1 (MQ=255) gCATCTTGCGGCGCACCGCGGCGTTCACCGCGAATAATCTGCGAACCGTCCGGCGAGCCGACCAGCGCACGCAGcc > 2:2744638/1‑76 (MQ=255) cATCTTGCGGCGCACCGCGGCGTTCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCa < 1:4332503/76‑1 (MQ=255) aTCTTGCGGCGCACCGCGGCGTTCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAg > 2:3834707/1‑76 (MQ=255) tCTTGCGGCGCACCGCGGCGTTCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGa < 2:4079793/76‑1 (MQ=255) gcTTGCGGCGCACCGCGGCGTTCACCGCGAATAATCTGCGAACCGTCCGGAGCGCAGACCCGCGCACGCAGTCAGa > 1:3466899/2‑76 (MQ=255) cTTGCGGCGCACCGCGGCGTTCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCCGCGCAAGCAGCCAGAt > 1:3887414/1‑76 (MQ=255) ttGCGGCGCACCGCGGCGTTCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGAtt < 1:4653529/76‑1 (MQ=255) ttGCGGCGCACCGCGGCGTTCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGAtt > 1:633397/1‑76 (MQ=255) tGCGGCGCACCGCGGCGTTCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGAttt < 1:4361070/76‑1 (MQ=255) tGCGGCGCACCGCGGCGTTCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGAttt > 1:4448077/1‑76 (MQ=255) gcggctCACCGCGGCGTTCACCGCGACTAATCTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCCGCCAGATTTc < 2:2273384/76‑1 (MQ=255) gcggcgCACCGCGGCGTTCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTc < 1:3552614/76‑1 (MQ=255) gcggcgCACCGCGGCGTTCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTc < 1:3835442/76‑1 (MQ=255) gcagcgcACCGCGGCGTTCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTc > 1:2439723/4‑76 (MQ=255) tgcgcACCGCGGCGTTCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGc > 2:2268131/2‑76 (MQ=255) ggcgCACCGCGGCGTTCACCGCGAATAATCTGCGAACCGTCCGGCTCGCCGACCCGCGCACGCAGCCAGATCTCGc > 2:4925929/1‑76 (MQ=255) ggcgCACCGCGGCGTTCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGc > 1:1317359/1‑76 (MQ=255) gcgcgcCGCGGGGTTCAGCGCGAATAATCTGCGAGCGGTCCGGCGCGCCGACTAGCGCACGCAGCCAGATTTctgc < 2:1492821/76‑4 (MQ=255) gcACCGCGGCGTTCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCAt < 1:3281243/76‑1 (MQ=255) gcACCGCGGCGTTCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCAt < 1:2744638/76‑1 (MQ=255) cACCGCGGCGTTCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCATc > 1:1831691/1‑76 (MQ=255) cccGCGGCGTCCACCGCGAATAATCGGCGAACCGTCCGGCGGTCCGACCAGCGCACGCAGCCAGATTTCGCCATCa < 1:814099/75‑1 (MQ=255) aCCGCGGCGTTCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCATCa > 2:3984996/1‑76 (MQ=255) aCCGCGGCGTTCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCATCa < 2:5318004/76‑1 (MQ=255) ccGCGGCGTTCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCATCaa < 1:1040001/76‑1 (MQ=255) cgcgGCGTTCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCCGCTAGATTTCGCCATCAAt > 2:1054118/1‑76 (MQ=255) cgcgGCGTTCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCTccatccat > 2:918820/1‑76 (MQ=255) cgcgGCGTTCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCATCAAt > 1:3596779/1‑76 (MQ=255) gcggcgTTCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCATCAATa < 2:2951990/76‑1 (MQ=255) gcggcgTTCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCATCAATa > 2:1983851/1‑76 (MQ=255) gcggcgTTCACCGCGAATAATCTGCGAACCGTCCGCCGCGCCGACCAGCGCACGCATCCAGCCTGCGccaccacga > 2:456158/1‑73 (MQ=255) cggcgTTCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCATCAATaa < 2:5435004/76‑1 (MQ=255) cggcgTTCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCATCAATaa > 1:1655679/1‑76 (MQ=255) cggcgTTCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCATCAATaa > 1:5327226/1‑76 (MQ=255) ggcgTTCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCATCAATAAg > 1:5758150/1‑76 (MQ=255) ggcgTTCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCATCAATAAg > 2:1197701/1‑76 (MQ=255) gcgTTCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTc > 1:4897411/1‑63 (MQ=255) gcgTTCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTc < 2:4897410/63‑1 (MQ=255) gcgTTCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCATCAATAAGc < 1:1579005/76‑1 (MQ=255) cgTTCTCCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCATCAATAAGCt < 2:4812415/76‑1 (MQ=255) cgTTCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCATCAATAAGCt > 1:5388421/1‑76 (MQ=255) cgTTCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCATCAATAAGCt > 1:4399530/1‑76 (MQ=255) cgTTCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCATCAATAAGCt < 1:980512/76‑1 (MQ=255) cgTTCACCGCGAATAATCGGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCATCAATAAGCt < 2:2751907/76‑1 (MQ=255) ttCACCGCCAATAAGCGGAGAACCGTCCGGCGAGCCGACCAGCGCACAAAGCCAGATATCGCCAACAATAAGCTCg > 2:3336823/1‑76 (MQ=255) tCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCATCAATAAGCTCgg < 2:1642458/76‑1 (MQ=255) tCACCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCATCAATAAGCTCgg > 1:5783690/1‑76 (MQ=255) ccccGGGAATAATCTGCGAGCCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCATCAATAAGCTCGGc < 2:4570725/74‑1 (MQ=255) cACCGCGAAGAATGTGCGATCCGTCCGGCGCGCCGACCAGCGCACGCTGCCAGATTTCGCCATCAATAAGCTCGGc < 2:5691212/76‑1 (MQ=255) aCCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCATCAATAAGCTCGGCg > 1:4486918/1‑76 (MQ=255) aCCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCATCAATAAGCTCGGCg > 1:1870049/1‑76 (MQ=255) aCCGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCATCAATAAGCTCGGCg > 2:3674869/1‑76 (MQ=255) ccGCGAATAATCTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCATCAATAAGCTCGGCGt > 1:460176/1‑76 (MQ=255) cgcgAATAATCTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCTCCATCAATAAGCTCGGCGTa > 2:2475501/1‑76 (MQ=255) cgcgAATAATCTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCATCAATAAGCTCGGCGTa > 2:5540918/1‑76 (MQ=255) gcgAATAATCTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCATCAATAAGCTCGGCGTAg > 1:1557590/1‑76 (MQ=255) gcgAATAATCTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCATCAATAAGCTCGGCGTAg < 2:4453298/76‑1 (MQ=255) cgAATAATCTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCATCAATAAGCTCGGCGTAGc < 1:3201960/76‑1 (MQ=255) cgAATAAGCTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCATCAATAAGCTCGGCGTAGc < 2:5564197/76‑1 (MQ=255) gAATAATCTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCATCAATAAGCTCGGCGTAGCt < 1:3806574/76‑1 (MQ=255) gAATAATCTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCATCAATAAGCTCGGCGTAGCt < 2:1338844/76‑1 (MQ=255) gAATAATCTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCATCAATAAGCTCGGCGGAGCt > 1:417658/1‑76 (MQ=255) agtaagCTGCGACCCCTCCGGCGCGCCGACCAGGGCACGCAGCCAGATTTCGCCATCAATAAGCTCGGCGTAGCTa < 2:4614252/74‑1 (MQ=255) aatcatCTGCGAACCGTCCGGCGCGCCGACCAGCGCACTCAGCCAGATTTCGCCATCAATAAGCTCGGCGTAGCTa < 1:2545731/76‑1 (MQ=255) ataatCTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCATCAATAAGCTCGGCGTAGCTAc > 1:5291254/1‑76 (MQ=255) ataatCGGCGAACCGTCGGGCGCGCCGACCAGCGCACGCCGCCAGCTTTCGCCATCAATAAGCTCGGCGTAGCTAc < 2:1457804/76‑1 (MQ=255) aatCTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCATCAATAAGCTCGGCGTAGCTACCa > 2:752737/1‑76 (MQ=255) aatCTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCATCAATAAGCTCGGCGTAGCTACCa > 1:30138/1‑76 (MQ=255) aatCTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCATCAATAAGCTCGGCGTAGCTACCa > 1:56913/1‑76 (MQ=255) aatCTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCATCAATAAGCTCGGCGTAGCTACCa > 1:545346/1‑76 (MQ=255) gcggCGGACCGTCGGGCGCGCCGACCGGCGCACGCAGCCAGATTTCGCCATCAATAAGCTCGGCGTAGCTACCAAt < 2:1566210/73‑1 (MQ=255) ccTGCGACCCGCCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCATCAATAAGCTCGGCGTAGCTACCAAt < 1:394626/75‑1 (MQ=255) cTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCATCAATACGCTCGGCGTAGCTACCAAtt > 2:5429878/1‑76 (MQ=255) cTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCATCAATAAGCTCGGCGTCGCTCCCaaca > 2:394626/1‑74 (MQ=255) cTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCATCAATAAGCTCGGCGTAGCTACCAAtt < 1:2113463/76‑1 (MQ=255) cTGCGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCATCAATAAGCTCGGCGTAGCTACCAAtt > 1:3473035/1‑76 (MQ=255) tGCGAACCGTCCGGCGCGCCGACCAGCGCACTCAGCCAGATTTCGCCATCAATAAGCTCGGCGTAGCTACCAATTg < 2:3871479/76‑1 (MQ=255) cGAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCATCAATAAGCTCGGCGTAGCTACCAATTGGc > 2:1126129/1‑76 (MQ=255) gAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCATCAATAAGCTCGGCGTAGCTACCACTTCGCa > 2:1361043/1‑76 (MQ=255) gAACCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCATCAATAAGCTCGGCGTAGCTACCAATTGGCa < 2:2636247/76‑1 (MQ=255) aaCCGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCATCAATAAGCTCGGCGTAGCTACCAATTGGCAc < 1:4478023/76‑1 (MQ=255) ccGTCCGGCGCGCCGCCCAGCGCACGCAGCCAGATTTCGCCATCAATAAGCTCGGCGTAGCTACCAATTGGCACCt < 1:1342756/76‑1 (MQ=255) ccGTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCATCAATAAGCTCGGCGTAGCTACCAATTGGCACCt > 2:2724318/1‑76 (MQ=255) gTCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCATCAATAAGCTCGGCGTAGCTACCAATTGGCACCTGa > 1:4189715/1‑76 (MQ=255) tCCGGCGCGCCGACCAGCGCACGCAGCCAGATTTCGCCATCAATAAGCTCGGCGTAGCTACCAATTGGCACCTGAc < 1:2044408/76‑1 (MQ=255) ccggcgcgCCGCCCAGCGCACGCAGCCAGATTTCGCAATCAATAAGCTCGGCGTAGCTACCAATTGGCCCCTGACa < 2:3277504/76‑1 (MQ=255) || ATCCCCATTTGTTCGGCATCTTGCGGCGCACCGCGGCGTTCACCGCGAATAATCTGCGAACCGTCCGGCCGGCCGACCAGCGCACGCAGCCAGATTTCGCCATCAATAAGCTCGGCGTAGCTACCAATTGGCACCTGACA > NC_000913/3987517‑3987656 |
Alignment Legend |
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Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 6 ≤ ATCG/ATCG < 13 ≤ ATCG/ATCG < 38 ≤ ATCG/ATCG < 40 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |