| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | NC_000913 | 4,225,743 | G→T | 6.2% | R639L (CGC→CTC) | metH → | homocysteine‑N5‑methyltetrahydrofolate transmethylase, B12‑dependent |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | NC_000913 | 4,225,743 | 0 | G | T | 6.2% | 229.1 / 3.0 | 64 | R639L (CGC→CTC) | metH | homocysteine‑N5‑methyltetrahydrofolate transmethylase, B12‑dependent |
| Reads supporting (aligned to +/- strand): ref base G (30/30); new base T (2/2); total (32/32) | |||||||||||
| 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 | |||||||||||
GATCGTCAACGCCGGGCAACTGGCGATTTACGACGACCTACCCGCTGAACTGCGCGACGCGGTGGAAGATGTGATTCTTAATCGTCGCGACGATGGCACCGAGCGTTTACTGGAGCTTGCCGAGAAATATCGCGGCAGCAAAACCGACGACACCGCCAACGCCCAGCAGGCGGAGTGGCGCTCGTGGGAAGTGAATAAACGTCTGGAATACTCGCTGGTCAAAGGCATTACCGAGTTTATCGAGCAGGATACCGAAGAAGCCCGCCAGC > NC_000913/4225612‑4225880 | gATCGTCAACGCCGGGCAACTGGCGATTTACGACGACCTACCCGCTGAACTGCGCGACGCGGTGGAAGATGTGATTCTTAATCGTCGCGACGATGGCACCGAGCGTTTACTGGAGCTTGCCGAGAAATATCGCGgc < 4:708933/136‑1 (MQ=255)gATCGTCAACGCCGGGCAACTGGCGATTTACGACGACCTACCCGCTGAACTGCGCGACGCGGTGGAAGATGTGATTCTTAATCGTCGCGACGATGGCACCGAGCGTTTACTGGAGCTTGCCGAGAAATATCGCGgc > 3:708933/1‑136 (MQ=255) tCAACGCCGGGCAACTGGCGATTTACGACGACCTACCCGCTGAACTGCGCGACGCGGTGGAAGATGTGATTCTTAATCGTCGCGACGATGGCACCGAGCGTTTACTGGAGCTTGCCGCGATATTTCTCGgca > 1:1050071/1‑132 (MQ=255) tCAACGCCGGGCAACTGGCGATTTACGACGACCTACCCGCTGAACTGCGCGACGCGGTGGAAGATGTGATTCTTAATCGTCGCGACGATGGCACCGAGCGTTTACTGGAGCTTGCCGCGATATTTCTCGgca > 3:29558/1‑132 (MQ=255) tCAACGCCGGGCAACTGGCGATTTACGACGACCTACCCGCTGAACTGCGCGACGCGGTGGAAGATGTGATTCTTAATCGTCGCGACGATGGCACCGAGCGTTTACTGGAGCTTGCCGCGATATTTCTCGgca < 2:1050071/132‑1 (MQ=255) tCAACGCCGGGCAACTGGCGATTTACGACGACCTACCCGCTGAACTCCGCGACGCGGTGGAAGATGTGATTCTTAATCGTCGCGACGCTGGCACCGAGCGTTTACTGGAGCTTGCCGCGATATTTCTCGgca < 4:29558/132‑1 (MQ=255) aTTTACGACGACCTACCCGCTGAACTGCGCGACGCGGTGGAAGATGTGATTCTTAATCGTCGCGACGATGGCACCGAGCGTTTACTGGAGCTTGCCGAGAAATATCGCGGCAGCAAAACCGACGACACCGCCAACGCCcagcag < 2:433455/144‑1 (MQ=255) aTTTACGACGACCTACCCGCTGAACTGCGCGACGCGGTGGAAGATGTGATTCTTAATCGTCGCGACGATGGCACCGAGCGTTTACTGGAGCTTGCCGAGAAATATCGCGGCAGCAAAACCGACGACACCGCCAACGCCcagcag > 1:433455/1‑144 (MQ=255) cTGAACTGCGCGACGCGGTGGAAGATGTGATTCTTAATCGTCGCGACGATGGCACCGAGCGTTTACTGGAGCTTGCCGAGAAATATCGCGGCAGCAAAACCGACGACACCGCCAACGCCCAGCAGGCGGAGTGGCGCTCGTGGGAAGt > 2:255398/1‑148 (MQ=255) tGAACTGCGCGACGCGGTGGAAGATGTGATTCTTAATCGTCGCGACGATGGCACCGAGCGTTTACTGGAGCTTGCCGAGAAATATCGCGGCAGCAAAACCGACGACACCGCCAACGCCCAGCAGGCGGAGTGGCGCTCGTGGGAAGTg < 1:192409/148‑1 (MQ=255) aCGCGGTGGAAGATGTGATTCTTAATCGTCGCGACGATGGCACCGAGCGTTTACTGGAGCTTGCCGAGAAATATCGCGGCAGCAAAACCGACGACACCGCCAACGc < 2:992342/106‑1 (MQ=255) aCGCGGTGGAAGATGTGATTCTTAATCGTCGCGACGATGGCACCGAGCGTTTACTGGAGCTTGCCGAGAAATATCGCGGCAGCAAAACCGACGACACCGCCAACGc > 1:992342/1‑106 (MQ=255) aCGCGGTGGAAGATGTGATTCTTAATCGTCGCGACGATGGCACCGAGCGTTTACTGGAGCTTGCCGAGAAATATCGCGGCAGCAAAACCGACGACACCGCCAACGCCCAGCAGGCGGAGTGGCGCTCGTGGGAAGTGAATAAACGTCt < 1:255398/148‑1 (MQ=255) gTGGAAGATGTGATTCTTAATCGTCGCGACGATGGCACCGAGCGTTTACTGGAGCTTGCCGAGAAATATCGCGGCAGCAAAACCGACGACACCGCCAACGCCCAGCAGGCGGAGTGGCGCTCGTGGGAAGTGAATaaa < 3:631044/138‑1 (MQ=255) gTGGAAGATGTGATTCTTAATCGTCGCGACGATGGCACCGAGCGTTTACTGGAGCTTGCCGAGAAATATCGCGGCAGCAAAACCGACGACACCGCCAACGCCCAGCAGGCGGAGTGGAGCTCGTGGGAAGTGAATaaa > 4:631044/1‑138 (MQ=255) ggAAGATGTGATTCTTAATCGTCGCGACGATGGCACCGAGCGTTTACTGGAGCTTGCCGAGAAATATCGCGGCAGCAAAACCGACGACACCGCCAACGCCCAGCAGGCGGAGt < 1:552000/113‑1 (MQ=255) ggAAGATGTGATTCTTAATCGTCGCGACGATGGCACCGAGCGTTTACTGGAGCTTGCCGAGAAATATCGCGGCAGCAAAACCGACGACACCGCCAACGCCCAGCAGGCGGAGt > 2:552000/1‑113 (MQ=255) aaGATGTGATTCTTAATCGTCGCGACGATGGCACCGAGCGTTTACTGGAGCTTGCCGAGAAATATCGCGGCAGCAAAACCGACGACACCGCCAACGCCCAGCAGGCGGAGTGGCGCTCGt < 3:483634/120‑1 (MQ=255) aaGATGTGATTCTTAATCGTCGCGACGATGGCACCGAGCGTTTACTGGAGCTTGCCGAGAAATATCGCGGCAGCAAAACCGACGACACCGCCAACGCCCAGCAGGCGGAGTGGCACTCGt > 4:483634/1‑120 (MQ=255) aTTCTTAATCGTCGCGACGATGGCACCGAGCGTTTACTGGAGCTTGCCGAGAAATATCGCGGCAGCAAAACCGACGACACCGCCAACGCCCAGCAGGCGGAGTGGCGCTCGTg > 1:264392/1‑113 (MQ=255) aTTCTTAATCGTCGCGACGATGGCACCGAGCGTTTACTGGAGCTTGCCGAGAAATATCGCGGCAGCAAAACCGACGACACCGCCAACGCCCAGCAGGCGGAGTGGCGCTCGTg < 2:264392/113‑1 (MQ=255) tcgCGACGATGGCACCGAGCGTTTACTGGAGCTTGCCGAGAAATATCGCGGCAGCAAAACCGACGACACCGCCAACGCCCAGCAGGCGGAGTGGCGCTCGTGGGAAGTg > 1:1009341/1‑109 (MQ=255) tcgCGACGATGGCACCGAGCGGTTACTGGAGCTTGCCGAGAAATATCGCGGCAGCAAAACCGACGACACCGCCAACGCCCAGCAGGCGGGGTGGCGCTCGTGGGAAGTg < 2:1009341/109‑1 (MQ=255) cgcgACGATGGCACCGAGCGTTTACTGGAGCTTGCCGAGAAATATCGCGGCAGCAAAACCGACGACACCGCCAACGCCCAGCAGGCGGAGTGGCGCTCGTGGGAAGTGAATAAACg > 4:361493/1‑116 (MQ=255) cgcgACGATGGCACCGAGCGTTTACTGGAGCTTGCCGAGAAATATCGCGGCAGCAAAACCGACGACACCGCCAACGCCCAGCAGGCGGAGTGGCGCTCGTGGGAAGTGAATAAACg < 3:361493/116‑1 (MQ=255) cgcgACGATGGCACCGAGCGTTTACTGGAGCTTGCCGAGAAATATCGCGGCAGCAAAACCGACGACACCGCCAACGCCCAGCAGGCGGAGTGGCGCTCGTGGGAAGTGAATAAACGTCTGGAATACTCGCTGGTCAAAGGCATTACCg > 3:147065/1‑148 (MQ=255) tGGCACCGAGCGTTTACTGGAGCTTGCCGAGAAATATCGCGGCAGCAAAACCGACGACACCg > 1:319715/1‑62 (MQ=255) tGGCACCGAGCGTTTACTGGAGCTTGCCGAGAAATATCGCGGCAGCAAAACCGACGACACCg < 2:319715/62‑1 (MQ=255) ggCACCGAGCGTTTACTGGAGCTTGCCGAGAAATATCGCGGCAGCAAAACCGACGACACCGCCAACGCCCAGCAGGCGGAGTGGCGCTCGTGGGAAGTGAATAAACGTCTGGAATACTCGCTGGTCAAAGGCATTACCGAGTTTAt > 4:1097923/1‑146 (MQ=255) ggCACCGAGCGTTTACTGGAGCTTGCCGAGAAATATCGCGGCAGCAAAACCGACGACACCGCCAACGCCCAGCAGGCGGAGTGGCGCTCGTGGGAAGTGAATAAACGTCTGGAATACTCGCTGGTCAAAGGCATTACCGAGTTTAt > 4:1120092/1‑146 (MQ=255) ggCACCGAGCGTTTACTGGAGCTTGCCGAGAAATATCGCGGCAGCAAAACCGACGACACCGCCAACGCCCAGCAGGCGGAGTGGCGCTCGTGGGAAGTGAATAAACGTCTGGAATACTCGCTGGTCAAAGGCATTACCGAGTTTAt < 3:1120092/146‑1 (MQ=255) ggCACCGAGCGTTTACTGGAGCTTGCCGAGAAATATCGCGGCAGCAAAACCGACGACACCGCCAACGCCCAGCAGGCGGAGTGGCGCTCGTGGGAAGTGAATAAACGTCTGGAATACTCGCTGGTCAAAGGCATTACCGAGTTTAt < 3:1097923/146‑1 (MQ=255) ccGAGCGTTTACTGGAGCTTGCCGAGAAATATCGCGGCAGCAAAACCGACGACACCGCCAACGCCCAGCAGGCGGAGTGGCGCTCGTGGGAAGTGAATAAACGTCTGGAATACTCGCTGGTCAAAgg > 3:981328/1‑127 (MQ=255) ccGAGCGTTTACTGGAGCTTGCCGAGAAATATCGCGGCAGCAAAACCGACGACACCGCCAACGCCCAGCAGGCGGAGTGGCGCTCGTGGGAAGTGAATAAACGTCTGGAATACTCGCTGGTCAAAgg < 4:981328/127‑1 (MQ=255) ccGAGCGTTTACTGGAGCTTGCCGAGAAATATCGCGGCAGCAAAACCGACGACACCGCCAACGCCCAGCAGGCGGAGTGGCGCTCGTGGGAAGTGAATAAACGTCTGGAATACTCGCTGGTCAAAg > 2:919682/1‑126 (MQ=255) ccGAGCGTTTACTGGAGCTTGCCGAGAAATATCGCGGCAGCAAAACCGACGACACCGCCAACGCCCAGCAGGCGGAGTGGCGCTCGTGGGAAGTGAATAAACGTCTGGAATACTCGCTGGTCAAAg < 1:919682/126‑1 (MQ=255) ccGAGCGTTTACTGGAGCTTGCCGAGAAATATCGCGGCAGCAAAACCGACGACACCGCCAACGCCCAGCAGGCGGAGTGGCGCTCGTGGGAAGTGAATAAACGTCTGGAATACTCGCTGGTCAAAGGc < 1:56485/128‑1 (MQ=255) ccGAGCGTTTACTGGAGCTTGCCGAGAAATATCGCGGCAGCAAAACCGACGACACCGCCAACGCCCAGCAGGCGGAGTGGCGCTCGTGGGAAGTGAATAAACGTCTGGAATACTCGCTGGTCAAAGGc > 2:56485/1‑128 (MQ=255) cGAGCGTTTACTGGAGCTTGCCGAGAAATATCGCGGCAGCAAAACCGACGACACCGCCAACGCCCAGCAGGCGGAGTGGCGCTCGTGGGAAGTGAATAAACGTCTGGAATACTCGCTGGTCAAAGGCATTACCGAGTTTATCGAGCAg > 4:1043826/1‑148 (MQ=255) gAGCGTTTACTGGAGCTTGCCGAGAAATATCGCGGCAGCAAAACCGACGACACCGCCAACGCCCAGCAGGCGGAGTGGCGCTCGTGGGAAGTGAATAAACGTCTGGAATACTCGCTGGTCAAAGGCATTACCGAGTTTATCGAGCAgg > 4:1029505/1‑148 (MQ=255) gCGTTTACTGGAGCTTGCCGAGAAATATCGCGGCAGCAAAACCGACGACACCGCCAACGCCCAGCAGGCGGAGTGGCGCTCGTGGGAAGTGAATAAACGTCTGGAATACTCGCTGGTCAAAGGCATTACCGAGTTTATCGAGc > 4:714449/1‑143 (MQ=255) gCGTTTACTGGAGCTTGCCGAGAAATATCGCGGCAGCAAAACCGACGACACCGCCAACGCCCAGCAGGCGGAGTGGCGCTCGTGGGAAGTGAATAAACGTCTGGAATACTCGCTGGTCAAAGGCATTACCGAGTTTATCGAGc < 3:714449/143‑1 (MQ=255) cGTTTACTGGAGCTTGCCGAGAAATATCGCGGCAGCAAAACCGACGACACCGCCAACGCCCAGCAGGCGGAGTGGCGCTCGTGGGAAGTGAATAAACGTCTGGAATACTCGCTGGTCAAAGGCATTACCGAGTTTATCGAGCAGGATa < 3:1029505/148‑1 (MQ=255) ttACTGGAGCTTGCCGAGAAATATCGCGGCAGCAAAACCGACGACACCGCCAACGCCCAGCAGGCGGAGTGGCGCTCGTGGGAAGTGAATAAACGTCTGGAATACTCGCTGGTCaaa < 3:364322/117‑1 (MQ=255) ttACTGGAGCTTGCCGAGAAATATCGCGGCAGCAAAACCGACGACACCGCCAACGCCCAGCAGGCGGAGTGGCGCTCGTGGGAAGTGAATAAACGTCTGGAATACTCGCTGGTCaaa > 4:364322/1‑117 (MQ=255) tGGAGCTTGCCGAGAAATATCGCGGCAGCAAAACCGACGACACCGCCAACGCCCAGCAGGCGGAGTGGCGCTCGTGGGAAGTGAATAAACGTCTGGAATACTCGCTGGTCAAAGGCATTACCGAGTTTAt > 2:210270/1‑130 (MQ=255) tGGAGCTTGCCGAGAAATATCGCGGCAGCAAAACCGACGACACCGCCAACGCCCAGCAGGCGGAGTGGCGCTCGTGGGAAGTGAATAAACGTCTGGAATACTCGCTGGTCAAAGGCATTACCGAGTTTAt < 1:210270/130‑1 (MQ=255) ggAGCTTGCCGAGAAATATCGCGGCAGCAAAACCGACGACACCGCCAACGCCCAGCAGGCGGAGTGGCGCTCGTGGGAAGTGAATAAACGTCTGGAATACTCGCTGGTCAAAGGCATTa > 3:376546/1‑119 (MQ=255) ggAGCTTGCCGAGAAATATCGCGGCAGCAAAACCGACGACACCGCCAACGCCCAGCAGGCGGAGTGGCGCTCGTGGGAAGTGAATAAACGTCTGGAATACTCGCTGGTCAAAGGCATTa < 4:376546/119‑1 (MQ=255) gAGCTTGCCGAGAAATATCGCGGCAGCAAAACCGACGACACCGCCAACGCCCAGCAGGCGGAGTGGCGCTCGTGGGAAGTGAATaaa > 2:226965/1‑87 (MQ=255) gAGCTTGCCGAGAAATATCGCGGCAGCAAAACCGACGACACCGCCAACGCCCAGCAGGCGGAGTGGCGCTCGTGGGAAGTGAATaaa < 1:226965/87‑1 (MQ=255) aGCTTGCCGAGAAATATCGCGGCAGCAAAACCGACGACACCGCCAACGCCCAGCAGGCGGAGTGGCGCTCGTGGGAAGTGAATAAACGTCTGGAATACTCGCTGGTCAAAGGCATTACCGAGTTTATCGAGc > 2:206090/1‑132 (MQ=255) aGCTTGCCGAGAAATATCGCGGCAGCAAAACCGACGACACCGCCAACGCCCAGCAGGCGGAGTGGCGCTCGTGGGAAGTGAATAAACGTCTGGAATACTCGCTGGTCAAAGGCATTACCGAGTTTATCGAGc < 1:206090/132‑1 (MQ=255) cTTGCCGAGAAATATCGCGGCAGCAAAACCGACGACACCGCCAACGCCCAGCAGGCGGAGTGGCGCTCGTGGGAAGTGAATAAACGTCTGGAATACTCGCTGGTCAAAGGCATTACCGAGTTTATCGAGCAGGATACCGAAGAAGc > 2:293563/1‑146 (MQ=255) cTTGCCGAGAAATATCGCGGCAGCAAAACCGACGACACCGCCAACGCCCAGCAGGCGGAGTGGCGCTCGTGGGAAGTGAATAAACGTCTGGAATACTCGCTGGTCAAAGGCATTACCGAGTTTATCGAGCAGGATACCGAAGAAGc < 1:293563/146‑1 (MQ=255) tGCCGAGAAATATCGCGGCAGCAAAACCGACGACACCGCCAACGCCCAGCAGGCGGAGTGGCGCTCGTGGGAAGTGAATAAACGTCTGGAATACTCGCt < 2:873838/99‑1 (MQ=255) tGCCGAGAAATATCGCGGCAGCAAAACCGACGACACCGCCAACGCCCAGCAGGCGGAGTGGCGCTCGTGGGAAGTGAATAAACGTCTGGAATACTCGCt > 1:873838/1‑99 (MQ=255) gagaAATATCGCGGCAGCAAAACCGACGACACCGCCAACGCCCAGCAGGCGGAGTGGCGCTCGTGGGAAGTGAATAAACGTCTGGAATACTCGCTGGTCAAAGGCATTACCGAGTTTATCGAGCAGGATACCGAAGAAGCCCGCcagc < 4:147065/148‑1 (MQ=255) agaAATATCGCGGCAGCAAAACCGACGACACCGCCAACGCCCAGCAGGCGGAGTGGCGCTCGTGGGAAGTGAATAAACGTCTGGAATACTCGCTGGTCAAAGGCATTACCGAGTTTATCGAGCAGGATACCgaaga < 1:203623/136‑1 (MQ=255) agaAATATCGCGGCAGCAAAACCGACGACACCGCCAACGCCCAGCAGGCGGAGTGGCGCTCGTGGGAAGTGAATAAACGTCTGGAATACTCGCTGGTCAAAGGCATTACCGAGTTTATCGAGCAGGATACCgaaga > 2:203623/1‑136 (MQ=255) aaaTATCGCGGCAGCAAAACCGACGACACCGCCAACGCCCAGCAGGCGGAGTGGCGCTCGTGGGAAGTGAATAAACGTCTGGAATACTCGCTGGTCAAAGGCATTACCg > 2:694484/1‑109 (MQ=255) aaaTATCGCGGCAGCAAAACCGACGACACCGCCAACGCCCAGCAGGCGGAGTGGCGCTCGTGGGAAGTGAATAAACGTCTGGAATACTCGCTGGTCAAAGGCATTACCg < 1:694484/109‑1 (MQ=255) tCGCGGCAGCAAAACCGACGACACCGCCAACGCCCAGCAGGCGGAGTGGCGCTCGTGGGAAGTGAATAAACGTCTGGa > 4:600999/1‑78 (MQ=255) tCGCGGCAGCAAAACCGACGACACCGCCAACGCCCAGCAGGCGGAGTGGCGCTCGTGGGAAGTGAATAAACGTCTGGa < 3:600999/78‑1 (MQ=255) | GATCGTCAACGCCGGGCAACTGGCGATTTACGACGACCTACCCGCTGAACTGCGCGACGCGGTGGAAGATGTGATTCTTAATCGTCGCGACGATGGCACCGAGCGTTTACTGGAGCTTGCCGAGAAATATCGCGGCAGCAAAACCGACGACACCGCCAACGCCCAGCAGGCGGAGTGGCGCTCGTGGGAAGTGAATAAACGTCTGGAATACTCGCTGGTCAAAGGCATTACCGAGTTTATCGAGCAGGATACCGAAGAAGCCCGCCAGC > NC_000913/4225612‑4225880 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 16 ≤ ATCG/ATCG < 33 ≤ ATCG/ATCG < 38 ≤ ATCG/ATCG < 40 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |