| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | minE | 2,409,850 | A→G | 43.4% | K102E (AAG→GAG) | hemX → | uroporphyrinogen III methylase |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | minE | 2,409,850 | 0 | A | G | 43.4% | 16.1 / 59.0 | 76 | K102E (AAG→GAG) | hemX | uroporphyrinogen III methylase |
| Reads supporting (aligned to +/- strand): ref base A (31/12); new base G (20/13); total (51/25) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 3.31e-01 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.80e-01 | |||||||||||
GCAAAAAGCCCAGGAGAGCCAAAAAGCCGAGCTGGAAGGCATTATTAAGCAACAAGCTGCACAACTTAAGCAGGCGAATCGTCAGCAAGAAACGCTGGCAAAACAGTTGGATGAAGTCCAAC > minE/2409783‑2409904 | gCAAAAAGCCCAGGAGAGCCAAAAAGCCGAGCTGGAAGGCATTATTAAGCAACAAGCTGCACAACTTa > 1:3202760/1‑68 (MQ=255) aaaaaGCCCAGGAGAGCCAAAAAGCCGAGCTGGAAGGCATTATTAAGCAACAAGCTGCACAACTTAAg < 1:1648656/68‑1 (MQ=255) aaaaaGCCCAGGAGAGCCAAAAAGCCGAGCTGGAAGGCATTATTAAGCAACAAGCTGCACAACTTAAg < 1:1004347/68‑1 (MQ=255) aaaaaGCCCAGGAGAGCCAAAAAGCCGAGCTGGAAGGCATTATTAAGCAACAAGCTGCACAACTTAAg < 1:1143844/68‑1 (MQ=255) cccAGGAGAGCCAAAAAGCCGAGCTGGAAGGCATTATTAAGGAACAAGCTGCACAACTTAAGCAGGCGa < 1:1747263/69‑1 (MQ=255) cccAGGAGAGCCAAAAAGCCGAGCTGGAAGGCATTATTAAGCAACAAGCTGCACAACTTAAGCAGGCGa < 1:1285303/69‑1 (MQ=255) cccAGGAGAGCCAAAAAGCCGAGCTGGAAGGCATTATTAAGCAACAAGCTGCACAACTTAAGCAGGCGa < 1:3266696/69‑1 (MQ=255) cccAGGAGAGCCAAAAAGCCGAGCTGGAAGGCATTATTAAGCAACAAGCTGCACAACTTAAGCAGGCGa < 1:3076056/69‑1 (MQ=255) cccAGGAGAGCCAAAAAGCCGAGCTGGAAGGCATTATTAAGCAACAAGCTGCACAACTTAAGCAGGCGa < 1:1249430/69‑1 (MQ=255) cccAGGAGAGCCAAAAAGCCGAGCTGGAAGGCATTATTAAGCAACAAGCTGCACAACTTAAGCAGGCGa < 1:2607918/69‑1 (MQ=255) agcagagCCAAAAAGCCGAGCTGGAAGGCATTATCAAGCAACAAGCTGTACAGCTTGAGCAGGCGAATc > 1:598482/4‑69 (MQ=255) aGGAGAGCCAAAAAGCCGAGCTGGAAGGCATTATCAAGCAACAAGCTGTACAGCTTGAGCAGGCGAAt > 1:1706826/1‑68 (MQ=255) aGGAGAGCCAAAAAGCCGAGCTGGAAGGCATTATCAAGCAACAAGCTGTACAGCTTGAGCAGGCGAATc > 1:2307181/1‑69 (MQ=255) aGGAGAGCCAAAAAGCCGAGCTGGAAGGCATTATCAAGCAACAAGCTGTACAGCTTGAGCAGGCGAATc > 1:2794562/1‑69 (MQ=255) aGGAGAGCCAAAAAGCCGAGCTGGAAGGCATTATCAAGCAACAAGCTGTACAGCTTGAGCAGGCGAATc > 1:2419965/1‑69 (MQ=255) aGGAGAGCCAAAAAGCCGAGCTGGAAGGCATTATCAAGCAACAAGCTGTACAGCTTGAGCAGGCGAATc > 1:2411333/1‑69 (MQ=255) aGGAGAGCCAAAAAGCCGAGCTGGAAGGCATTATCAAGCAACAAGCTGTACAGCTTGAGCAGGCGAATc > 1:2739578/1‑69 (MQ=255) aGGAGAGCCAAAAAGCCGAGCTGGAAGGCATTATCAAGCAACAAGCTGTACAGCTTGAGCAGGCGAATc > 1:3098413/1‑69 (MQ=255) aGGAGAGCCAAAAAGCCGAGCTGGAAGGCATTATCAAGCAACAAGCTGTACAGCTTGAGCAGGCGAATc > 1:3330100/1‑69 (MQ=255) aGGAGAGCCAAAAAGCCGAGCTGGAAGGCATTATCAAGCAACAAGCTGTACAGCTTGAGCAGGCGAATc > 1:597304/1‑69 (MQ=255) aGGAGAGCCAAAAAGCCGAGCTGGAAGGCATTATCAAGCAACAAGCTGTACAGCTTGAGCAGGCGAATc > 1:635803/1‑69 (MQ=255) aGGAGAGCCAAAAAGCCGAGCTGGAAGGCATTATCAAGCAACAAGCTGTACAGCTTGAGCAGGCGAATc > 1:724389/1‑69 (MQ=255) aGGAGAGCCAAAAAGCCGAGCTGGAAGGCATTATCAAGCAACAAGCTGTACAGCTTGAGCAGGCGAATc > 1:949525/1‑69 (MQ=255) aGGAGAGCCAAAAAGCCGAGCTGGAAGGCATTATCAAGCAACAAGCTGTACAGCTTGAGCAGGCGAATc > 1:959543/1‑69 (MQ=255) aGGAGAGCCAAAAAGCCGAGCTGGAAGGCATTATCAAGCAACAAGCTGTACAGCTTGAGCAGGCGAATc > 1:960290/1‑69 (MQ=255) aGGAGAGCCAAAAAGCCGAGCTGGAAGGCATTATCAAGCAACAAGCTGTACAGCTTGAGCAGGCGAATc > 1:1600107/1‑69 (MQ=255) aGGAGAGCCAAAAAGCCGAGCTGGAAGGCATTATCAAGCAACAAGCTGTACAGCTTGAGCAGGCGAATc > 1:2134239/1‑69 (MQ=255) aGGAGAGCCAAAAAGCCGAGCTGGAAGGCATTATCAAGCAACAAGCTGTACAGCTTGAGCAGGCGAATc > 1:1891820/1‑69 (MQ=255) aGGAGAGCCAAAAAGCCGAGCTGGAAGGCATTATCAAGCAACAAGCTGTACAGCTTGAGCAGGCGAATc > 1:2098819/1‑69 (MQ=255) aGGAGAGCCAAAAAGCCGAGCTGGAAGGCATTATCAAGCAACAAGCTGTACAGCTTGAGCAGGCGAATc > 1:1010014/1‑69 (MQ=255) aaaaGCCGAGCTGGAAGGCATTATTAAGCAACAAGCTGCACAACTTAAGCAGGCGAATCGTCAGCAAGa < 1:2409758/69‑1 (MQ=255) cGAGCTGGAAGGCATTATTAAGCAACAAGCTGCACAACTTAAGCAGGCGAATCGTCAGCAAGAAACGCt < 1:789641/69‑1 (MQ=255) cATTATTAAGCAACAAGCTGCACAACTTAAGCAGGCGAATCGTCAGCAAGAAACGCTGGCAAAACAg > 1:3084629/1‑67 (MQ=255) cATTATTAAGCAACAAGCTGCACAACTTAAGCAGGCGAATCGTCAGCAAGAAACGCTGGCAAAACAGt > 1:1390782/1‑68 (MQ=255) cATTATTAAGCAACAAGCTGCACAACTTAAGCAGGCGAATCGTCAGCAAGAAACGCTGGCAAAACAGt > 1:2277107/1‑68 (MQ=255) cATTATTAAGCAACAAGCTGCACAACTTAAGCAGGCGAATCGTCAGCAAGAAACGCTGGCAAAACAGt > 1:395861/1‑68 (MQ=255) cATTATTAAGCAACAAGCTGCACAACTTAAGCAGGCGAATCGTCAGCAAGAAACGCTGGCAAAACAGt > 1:2725478/1‑68 (MQ=255) cATTATTAAGCAACAAGCTGCACAACTTAAGCAGGCGAATCGTCAGCAAGAAACGCTGGCAAAACAGt > 1:3348454/1‑68 (MQ=255) cATTATTAAGCAACAAGCTGCACAACTTAAGCAGGCGAATCGTCAGCAAGAAACGCTGGCAAAACAGt > 1:2215983/1‑68 (MQ=255) cATTATTAAGCAACAAGCTGCACAACTTAAGCAGGCGAATCGTCAGCAAGAAACGCTGGCAAAACAGt > 1:3017792/1‑68 (MQ=255) cATTATTAAGCAACAAGCTGCACAACTTAAGAAGGCGAATCGTCAGCAAGAAACGCTGGCAAAACAg > 1:3343150/1‑67 (MQ=255) tattaAGCAACAAGCTGCACAACTTAAGCAGGCGAATCGTCAGCAAGAAACGCTGGCAAAACAGTTgg > 1:529616/1‑68 (MQ=255) tattaAGCAACAAGCTGCACAACTTAAGCAGGCGAATCGTCAGCAAGAAACGCTGGCAAAACAGTTgg > 1:3329609/1‑68 (MQ=255) tattaAGCAACAAGCTGCACAACTTAAGCAGGCGAATCGTCAGCAAGAAACGCTGGCAAAACAGTTgg > 1:1755494/1‑68 (MQ=255) tattaAGCAACAAGCTGCACAACTTAAGCAGGCGAATCGTCAGCAAGAAACGCTGGCAAAACAGTTgg > 1:1091266/1‑68 (MQ=255) tattaAGCAACAAGCTGCACAACTTAAGCAGGCGAATCGTCAGCAAGAAACGCTGGCAAAACAGTTgg > 1:1008962/1‑68 (MQ=255) tattaAGCAACAAGCTGCACAACTTAAGCAGGCGAATCGTCAGCAAGAAACGCTGGCAAAACAGTTgg > 1:3000434/1‑68 (MQ=255) tattaAGCAACAAGCTGCACAACTTAAGCAGGCGAATCGTCAGCAAGAAACGCTGGCAAAACAGTTgg > 1:2760613/1‑68 (MQ=255) attaAGCAACAAGCTGCACAACTTAAGCAGGCGAATCGTCAGCAAGAAACGCTGGCAAAACAGTTGGa > 1:3316920/1‑68 (MQ=255) attaAGCAACAAGCTGCACAACTTAAGCAGGCGAATCGTCAGCAAGAAACGCTGGCAAAACAGTTGGa > 1:148273/1‑68 (MQ=255) attaAGCAACAAGCTGCACAACTTAAGCAGGCGAATCGTCAGCAAGAAACGCTGGCAAAACAGTTGGa > 1:371102/1‑68 (MQ=255) attaAGCAACAAGCTGCACAACTTAAGCAGGCGAATCGTCAGCAAGAAACGCTGGCAAAACAGTTGGa > 1:1568249/1‑68 (MQ=255) attaAGCAACAAGCTGCACAACTTAAGCAGGCGAATCGTCAGCAAGAAACGCTGGCAAAACAGTTGGa > 1:2003500/1‑68 (MQ=255) attaAGCAACAAGCTGCACAACTTAAGCAGGCGAATCGTCAGCAAGAAACGCTGGCAAAACAGTTGGa > 1:2094456/1‑68 (MQ=255) ttaAGCAACAAGCTGCACAACTTAAGCAGGCGAATCGTCAGCAAGAAACGCTGGCAAAACAGTTGGa > 1:3231798/1‑67 (MQ=255) ttaAGCAACAAGCTGCACAACTTAAGCAGGCGAATCGTCAGCAAGAAACGCTGGCAAAACAGTTGGa > 1:840506/1‑67 (MQ=255) ttaAGCAACAAGCTGCACAACTTAAGCAGGCGAATCGTCAGCAAGAAACGCTGGCAAAACAGTTGGa > 1:2750629/1‑67 (MQ=255) ttaAGCAACAAGCTGCACAACTTAAGCAGGCGAATCGTCAGCAAGAAACGCTGGCAAAACAGTTGGa > 1:2870286/1‑67 (MQ=255) ttaAGCAACAAGCTGCACAACTTAAGCAGGCGAATCGTCAGCAAGAAACGCTGGCAAAACAGTTGGa > 1:2748080/1‑67 (MQ=255) ttaAGCAACAAGCTGCACAACTTAAGCAGGCGAATCGTCAGCAAGAAACGCTGGCAAAACAGTTGGa > 1:1121755/1‑67 (MQ=255) ttaAGCAACAAGCTGCACAACTTAAGCAGGCGAATCGTCAGCAAGAAACGCTGGCAAAACAGTTGGa > 1:2557061/1‑67 (MQ=255) ttaAGCAACAAGCTGCACAACTTAAGCAGGCGAATCGTCAGCAAGAAACGCTGGCAAAACAGTTGGa > 1:1877960/1‑67 (MQ=255) acaaGCTGCACAACTTAAGCAGGCGAATCGTCAGCAAGAAACGCTGGCAAAACAGTTGGATGAAGTCca < 1:2602123/69‑1 (MQ=255) gCTGCACAACTTAAGCAGGCGAATCGTCAGCAAGAAACGCTGGCAAAACAGTTGGATGAAGTCcaac > 1:3016862/1‑67 (MQ=255) cTTGAGCAGGCGAATCGTCAGCAAGAAACGCTGGCa < 1:493026/36‑1 (MQ=255) cTTGAGCAGGCGAATCGTCAGCAAGAAACGCTGGCa < 1:200321/36‑1 (MQ=255) cTTGAGCAGGCGAATCGTCAGCAAGAAACGCTGGCa < 1:3426921/36‑1 (MQ=255) cTTGAGCAGGCGAATCGTCAGCAAGAAACGCTGGCa < 1:611821/36‑1 (MQ=255) cTTGAGCAGGCGAATCGTCAGCAAGAAACGCTGGCa < 1:1939497/36‑1 (MQ=255) cTTGAGCAGGCGAATCGTCAGCAAGAAACGCTGGCa < 1:2437361/36‑1 (MQ=255) cTTGAGCAGGCGAATCGTCAGCAAGAAACGCTGGCa < 1:782306/36‑1 (MQ=255) cTTGAGCAGGCGAATCGTCAGCAAGAAACGCTGGCa < 1:2760097/36‑1 (MQ=255) cTTGAGCAGGCGAATCGTCAGCAAGAAACGCTGGCa < 1:1690762/36‑1 (MQ=255) cTTGAGCAGGCGAATCGTCAGCAAGAAACGCTGGCa < 1:928596/36‑1 (MQ=255) cTTGAGCAGGCGAATCGTCAGCAAGAAACGCTGGCa < 1:1082483/36‑1 (MQ=255) cTTGAGCAGGCGAATCGTCAGCAAGAAACGCTGGCa < 1:2933956/36‑1 (MQ=255) cTTGAGCAGGCGAATCGTCAGCAAGAAACGCTGGCa < 1:2214676/36‑1 (MQ=255) | GCAAAAAGCCCAGGAGAGCCAAAAAGCCGAGCTGGAAGGCATTATTAAGCAACAAGCTGCACAACTTAAGCAGGCGAATCGTCAGCAAGAAACGCTGGCAAAACAGTTGGATGAAGTCCAAC > minE/2409783‑2409904 |
| Alignment Legend |
|---|
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: ‑ |