Predicted mutation | |||||||
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evidence | seq id | position | mutation | freq | annotation | gene | description |
RA | NC_000913_3_hsa_tpiA | 4,513,088 | C→G | 9.2% | A102P (GCG→CCG) | fecC ← | ferric citrate ABC transporter permease |
Read alignment evidence... | |||||||||||
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seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
* | NC_000913_3_hsa_tpiA | 4,513,088 | 0 | C | G | 9.2% | 112.7 / 2.3 | 45 | A102P (GCG→CCG) | fecC | ferric citrate ABC transporter permease |
Reads supporting (aligned to +/- strand): ref base C (16/23); new base G (2/3); total (19/26) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.00e+00 |
TTTCTGTCATGGGTATGACGAAATCCGCCTCCTGCGGTCATGACCAGCAGCCAGCTCACGCCGCCCCCGCATGCCGCGATGAATGACAGAGAATAGCCTGCAATCGGCGTCGGACTCAGCGCGCTGGTAAGCGCCATAGCCAGCGCCGCGCCGCTGTTAATGCCGAGCAGTGAAGGAGAGGCCATTGGGTTGTGGGTCAGGGTTTGCAGCAGCGTGCCCGCGAGCGCCAGGCTTGCGCCGATCAGAACGGCGACCAGGCTTCGTGGCAAACGAAGGTTTTGCACCAGCGCTTCT > NC_000913_3_hsa_tpiA/4512943‑4513236 | tttCTGTCATGGGTATGACGAAATCCGCCTCCTGCGGTCATGACCAGCAGCCAGCTCACGCCGTCCCCGCATGCCGCGATGAATGACAGAGAATAGCCTGCAATCGGCGTCGGACTCAGCGCGCTGGTAAGCGCCATAGCCAgcgccgc < 1:558923/149‑1 (MQ=255) tCATGTGTATGACGAAATCCGCCTCCTGCCGTCATGACCAGCAGCCCGCTCACGCCGCCCCCGCATGCCGCGATGAATGACAGAGAATAGCCTGCAATCGGCCTCGGACTCAGCGCGCTGGTCAGCGCCATCAACAGCGCCGCGCCGCt > 2:525255/1‑149 (MQ=255) aTGGGTATGACGAAATCCGCCTCCTGCGGTCATGACCAGCAGCCAGCTCACGCCGCCCCCGCATGCCGCGCTGAATGACAGAGAATAGCCTGCAATCGGCGTCGGACTCAGCGCGCTGGTAAGCGCCATAGCCAGCGCCCCACCCCTGt > 2:215554/1‑149 (MQ=255) tGGGTATGACGAAATCCGCCTCCTGCGGTCATGACCAGCAGCCAGCTCACGCCGCCCCCGCATGCCGCGATGAATGACAGAGAATAGCCTGCAATCGGCGTCGGACTCAGCGCGCTGGTAAGCGCCATAGCCAGCGCCGCGCCGCTGtt > 1:91964/1‑149 (MQ=255) tGGGTATGACGAAATCCGCCTACTGCGGCCTGAACCAGCAGCCAGCTCACGCCGCCCCCGCATGCCGCGATGAATGACAGAGAATAGCCTGCAATCGGCGTCGGACTCAGCGCGCTGGTAAGCGCCATAGCCATCGCCGCGCCGCTGtt > 1:174534/1‑149 (MQ=255) tATGACGAAATCCGCCTCCTGCGGTCATGACCAGCAGCCAGCTCACGCCGCCCCCGCATGCCGCGATGAATGACAGAGAATAGCCTGCAATCGGCGTCGGACTCAGCGCGCTGGTAAGCGCCATAGACAGCGACGCGCCGCGGTTAATg > 1:457576/1‑149 (MQ=255) aTGACGAAATCCGCCTCCGGCGGGCATGACCAGCAGCCAGCTCACGCCGCCCCCGCATGCCGCGATGAATGACAGAGAATAGCCTGCAATCGGCGTCGGACTCAGCGCGCTGGTAAGCGCCATAGCCAGCGCCGCGCCGCTGTTAATGc < 1:330408/149‑1 (MQ=255) tGACGAACTCCGCCTCCTGCAGTCATGCCCAGCAGCCAGCTCACGCCGCCCCCGCATGCCGCGATGACTGCCAGAGAATAGCCGGCACTCGGCGTCGGACTCACCGCGCTGGTAAGCGCCATAGCCAGCGCCGCGCCCCTCTGACTGcc > 2:709425/1‑149 (MQ=255) gAAATCCGCCTCCTGCGGTCATGACCAGCAGCCAGCTCACGCCGCCCCCGCATGCCGCGATGAATGACAGAGAATAGCCTGCAATCGGCCTCGGACTCAGCGCGCTGGTAAGCGCCATAGCCAGCGCCGCGCACCTGTTAATGCCCAGc > 2:377957/1‑149 (MQ=255) ctGCGGTCATGACCAGCAGCCAGCTCACGCCGCCCCCGCATGCCGCGATGAATGACAGGGAATAGCCTGCAATCGGCGTCGGACTCAGCGCGCTGGTAAGCGCCATAGCCAGCGCCGCGCCGCTGTTAATGCCGCGCAGTGAAGGagag > 1:155999/1‑149 (MQ=255) tCATGACCAGCAGCCAGCTCACGCCGCCCCGGCATGCCGCGATGAATGACAGAGAATAGCCTGCAATCGCCGTCGGACTCAGCGCGCTGGTAAGCGCCATAGCCAGCGCCGCCCCGCGGTTAATGCCGAGCCGTGACGGAGCGGCCact > 2:584843/1‑147 (MQ=255) tCATGACCAGCAGCCAGCTCACGCCGCCCCCGCATGCCGCGATGAATGACAGAGAATAGCCTGCAATCCGCGGCGGACTCAGCGCGCTGGTACGCGCCATAGGACGCGCCGCGCCGCTGTTACTGCGGACCAGTGAAGAGGAGGCCAtt > 2:38736/1‑149 (MQ=255) tGACCAGCAGCCAGCTCACGCCGCCCCCGCATGCCGCGATGAATGACAGAGAATAGCCTGCAATCGGCGTCGGACTCAGCGCGCTGGTAAGCGCCATAGCCAGCGCCGCGCCGCTGTTAATGCCGAGCAGTGAAGGAGAGGCCATTggg < 1:61604/149‑1 (MQ=255) cagcagCCAGCTCACGCCGCCCCCGCATGCCGCGATGAATGACAGAGAATAGCCTGCAATCGGCGTCGGACTCAGCGCGCTGGTAAGCGCCATAGCCAGCGCCGCGCCGCTGTTAATGCCGAGCAGTGAAGGAGAGGCCATTGGGTtgt < 2:300927/149‑1 (MQ=255) agcagcCAGCTCACCCCGCCCCCGCATGCCGCGATGAATGACAGAGAATAGCCTGCAATCGGCGTCGGACTCAGCGCGCTGGTAAGCGCCATAGCCAGCGCCGCGCCGCTGTTAATGCCGAGCAGTGAAGGAGAGGCCATTGGGTtgtg < 1:523863/149‑1 (MQ=255) gcagcCAGCTCACGCCGCCCCCGCATGCCGCGATGAATGACAGAGAATAGCCTGCAATCGGCGTCGGACTCAGCGCGCTGGTAAGCGCCATAGCCAGCGCCGCGCCGCTGTTAATGCCGAGCAGTGAAGGAGAGGCCATTGGGTTGTgg < 1:559067/149‑1 (MQ=255) agcTCACGCGGCCCCCGCACGACGCAACTCATGACAGTGAATAGCCTGCAATCGGCGTCGGACTCAGCGCGCTGGTACGCGCCATAGCCAGCGCCGCGCCTCTGTTAATGCCGAGCAGTGAACTAGAGGCCCTTCTGTTGTGGGTCatg < 2:515089/149‑3 (MQ=255) cACGCCGCCCCCGCATGCCGCGATGAATGACAGAGAATAGCCTGCAATCGGCGTCGGACTCAGCGCGCTGGTAAGCGCCATAGCCAGCGCCGCGCCGCTGTTAATGCCGAGCAGTGAAGGAGAGGCCATTGGGTTGTGGGTCAGGGttt < 2:442300/149‑1 (MQ=255) aCGCCGCCCCCGCATGCCGCGATGAATGACAGAGAATAGCCTGCAATCGGCGTCGGACTCAGCGCGCTGGTAAGCGCCATAGCCAGCGCCGCGCCGCTGTTAATGCCGAGCAGTGAAGGAGAGGCCCTTGGGTTGTGGGTCAGGGTTTg > 1:93340/1‑149 (MQ=255) ccccGCATGCCTCGATTCATGACATAGAATAGCCTGCAATCGGCGTCGGACTCAGCGCGCTGGTAAGCGCAATAGCCAGCGCCGCGCCGCTGTTAATGCCGAGCAGTGAAGGAGAGGCCATTGGGTTGTGGGTCAGGGTTTGCagcagc < 1:671059/149‑1 (MQ=255) ccccGCATGCCGCGATGAATGACAGAGAATAGCCTGCAATCGGCGTCGGACTCAGCGCGCTGGTAAGCGCCATAGCCAGCGCCGCGCCGCTGTTAATGCCGAGCAGTGAAGGAGAGGCCATTGGGTTGTGGGTCAGGGTTTGCagcagc < 2:91964/149‑1 (MQ=255) ccccGAATGCCGGGATGAATGACAGAGAATAGCCTGGAATCGGCGTCGGACTCAGCGCGCTGGTAAGCGCCATAGCCAGCGCCGCGCCGCTGTTAATGCCGAGCAGTGAAGGAGAGGCCATTGGGTTGTGGGTCAGGGTTTGCagcagc < 1:251161/149‑1 (MQ=255) ccGCATGCCGCGATGAATGACAGAGAATAGCCTGCAATCGGCGTCGGACTCAGCGCGCTGGTAAGCGCCATAGCCAGCGCCGCGCCGCTGTTAACGCCGAGCAGTGAAGGAGAGGCCATTGGGTTGTGGGTCAGGGTTTGCAGCAGCGt < 1:387201/149‑1 (MQ=255) gCATGCCGCGATGAATGACAGAGAATAGCCTGCAATCGGCGTCGGACTCAGCGCGCTGGTAAGCGCCATAGCCAGCGCCGCGCCGCTGTTAATGCCGAGCAGTGAAGGAGAGGCCATTGGGTTGTGGGTCAGGGTTTGCAGCAGCGTGc < 1:13535/149‑1 (MQ=255) gATGAATGACAGAGAATAGCCTGCAATCGGCGTCGGACTCAGCGCGCTGGTAAGCGCCATAGCCAGCGCCGCGCCGCTGTTAATGCCGAGCAGTGAAGGAGAGGCCATTGGGTTGTGGGTCAGGGTTTGCAGCAGCGTGCCCGCGAgcg > 1:455605/1‑149 (MQ=255) gaatgaCAGGGAATAGGCTGCAATCGGCGTCGGACTCAGCGCGCTGGTAATCGCCATAGCCAGCGCCGCGCCGCTGTTAATGCCGAGCAGTGAAGGAGAGGCCATTGGGTTGTGGGTCAGGGTTTGCAGCAGCGTGCCCGCGAGCGCCa < 2:92732/149‑1 (MQ=255) aatgaAAGAGAATAGCCTGCAATCGGCGTCGGACTCAGCGCGCTGGTAAGCGCCATAGCCAGCGCCGCGCCGCTGTTAATGCCGAGCAGTGAAGGAGAGGCCATTGGGTTGTGGGTCAGGGTTTGCAGCAGCGTGCCCGCGAGCGCCAg < 1:496180/149‑1 (MQ=255) aacgacagacaATAGCCCGCAATCGGCGTCGGACTCAGCGCGCTGGTAAGCGCCATAGCCAGCGCGGGGCCGCTGTTAATGCCGAGCAGCGAAGGAGAGGCCATTGGGTTGTGGGTCAGGGTTTGCAGCAGCGTGCCCGCGAGCGCCAg < 2:562393/146‑1 (MQ=255) gagaATAGCCTGCAATCGGCGTCGGACTCAGCGCGCTGGTAAGCGCCATAGCCAGCGCCGCGCCGCTGTTAATGCCGAGCAGTGAAGGAGAGGCCATTGGGTTGTGGGTCAGGGTTTGCAGCAGCGTGCCCGCGAGCGCCAGGCTTgcg < 2:39655/149‑1 (MQ=255) caTCGGCGTCGGACTCAGCGCGCTGGTAAGCGCCATAGCCAGCGCCGCGCCGCTGTTAATGCCGAGCAGTGAAGGAGAGGCCATTGGGTTGTGGGTCAGGGTTTGCAGCAGCGTGCCCGCGAGCGCCAGGCTTGCGCCGATCAGAACgg < 1:90903/148‑1 (MQ=255) aTCGGCGACGGACTCAGCGGGCTGGCAAGCGCCATAGCCAGCGCCGCGCCGCTGTTAAAGCCGAGCAGTGAAGGAGAGGCCATTGGGTTGTGGGTCAGGGTTTGCAGCAGCGTGCCCGCGAGCGCCAGGCGTGCGCCGATCAGAACGGc < 2:713505/149‑1 (MQ=255) cGGCGTCGGACCCAGCGCGCTGGTAAGCGCCATAGCCAGCGCCGCGCCGCTGTTCATGCCGAGCGGTGAAGGGGAGGCCATTTGGTTGTGGGTCAGGGTTTGCAGCAGCGTGCCCGCGAGCGCCAGGCTTGCGCCGCTCGGAACGGCGa < 1:28616/149‑1 (MQ=255) aGCGCGCTGGTAAGCGCCATAGCCAGCGCCGCGCCGCTGTTAATGCCGAGCAGTGAAGGAGAGGCCATTGGGTTGTGGGTCAGGGTTTGCAGCAGCGTGCCCGCGAGCGCCAGGCTTGCGCCGATCAGAACGGCGACCAGGCTTCGTgg < 1:570404/149‑1 (MQ=255) cTGGTAAGCGCCATAGCCAGCGCCGCGCCGCTGTTAATGCCGAGCAGTGAAGGAGAGGCCATTGGGTTGTGGGTCAGGGTTTGCAGCAGCGTGCCCGCGAGCGCCAGGCTTGCGCCGATCAGAACGGCGACCAGGCTTCGTGGCAAACg > 1:409949/1‑149 (MQ=255) ggTAAGGGCCATAGCGAGCGCCGCGCTGCTGTTAATGCCGAGCAGTGAAGGAGAGGCCATTGGGTTGTGGGTCAGGGTTTGCAGCAGCGTGCCCGCGAGCGCCAGGCTTGCGCCTGTGTGAACGGCGACCAGGCTTCGTGGCAAACGaa < 2:703236/149‑1 (MQ=255) aGCGCCATAGCCAGCGCCGCGCCGCTGTTAATGCCGAGCAGGGAAGGAGAGGCCATTGGGTTGTGGGTCAAGGCCTCCACGAGGATTCTTGTGAGCGCCATGCTTGCGCCGATCAGAACGGCGACCAGGCTTCGTGGCAAACGCAGGtt > 2:442942/1‑149 (MQ=255) gcgcCATAGCCAGCGCCGCGCCGCTGTTAATGCCGAGCAGTGAAGGAGAGGCCATTGGGTTGTGGGTCAGGGTTTGCAGCAGCGTGCCCGCGAGCGCCAGGCTTGCGCCGATCAGAACGGCGACCAGGCTTCGTGGCAAACGAAGGttt < 1:552283/149‑1 (MQ=255) gcCATAGCCAGCGGCGCGCCGCTGCTAATGCCGAGCAGTGAAGGAGAGGCCATTGGGTTGTGGGTCAGGGTTTGCAGCAGCGTGCCCGCGAGCGCCAGGCTTGCGCCGATCAGAACGGCGACCAGGCTTCGTGGCAAACGAAGGTTTTg < 2:68380/149‑1 (MQ=255) gcCATAGCCAGCGCCGCGCCGCTGTTAATGCCGAGCAGTGAAGGAGAGGCCATTGGGTTGTGGGTCAGGGTTTGCAGCAGCGTGCCCGCGAGCGCCAGGCTTGCGCCGATCAGAACGGCGACCAGGCTTCGTGGCAAACGAAGGTTTTg > 1:675792/1‑149 (MQ=255) ttaacAGCGGCGCGGCGCTGTTAATGCCGAGCAGTGAAGGAGAGGCCATTGGGTTGTGGGTCAGGGTTTGCAGCAGCGTGCCCGCGAGCGCCAGGCTTGCGCCGATCAGAACGGCGACCAGGCTTCGTGGCAAACGAAg > 1:440591/5‑139 (MQ=255) ttaacAGCGGCGCGGCGCTGTTAATGCCGAGCAGTGAAGGAGAGGCCATTGGGTTGTGGGTCAGGGTTTGCAGCAGCGTGCCCGCGAGCGCCAGGCTTGCGCCGATCAGAACGGCGACCAGGCTTCGTGGCAAACGAAg < 2:80281/135‑1 (MQ=255) ttaacAGCGGCGCGGCGCTGTTAATGCCGAGCAGTGAAGGAGAGGCCATTGGGTTGTGGGTCAGGGTTTGCAGCAGCGTGCCCGCGAGCGCCAGGCTTGCGCCGATCAGAACGGCGACCAGGCTTCGTGGCAAACGAAg < 2:440591/135‑1 (MQ=255) ttaacAGCGGCGCGGCGCTGTTAATGCCGAGCAGTGAAGGAGAGGCCATTGGGTTGTGGGTCAGGGTTTGCAGCAGCGTGCCCGCGAGCGCCAGGCTTGCGCCGATCAGAACGGCGACCAGGCTTCGTGGCAAACGAAg > 1:80281/5‑139 (MQ=255) gCCAGCGCCGCGCCGCTGTTAATGCCGAGCAGTGAAGGAGAGGCCATTGGGTTGTGGGTCAGGGTTTGCAGCAGCGTGCCCGCGAGCGCCAGGCTTGCGCCGATCAGAACGGCGACCAGGCTTCGTGGCAAACGAAGGTTTTGCACCAg < 1:704191/149‑1 (MQ=255) ccAGCGCCGCGCCGCTGTTAATGCCGAGCAGTGAAGGAGAGGCCATCGGGTTGTGGGTCACGGTTTGCCGCAGCGTGCCCGCGAGCGCGAGGCTTCTGCCCAACAGAACTGCGACCACGCTTCGTTGCAACCGGAGGTTTTGCACCAgc > 2:151943/1‑149 (MQ=255) cAGCGCCGCGCCGCTGTTAATGCCGAGCAGTAACACCAAGTCCATTGGGTTGTGGCTCTGGGTTTGCAGCAGCGTGCCCGCGAGCGCCAGGCTTGCGCCGATCAGAACGGCGACCCGGCTTCGTGGCAAACGACGGTTCTGCACCaccc > 2:702738/1‑146 (MQ=255) gccgcgccgcTGTTAATGCCGAGCAGTGAAGGAGAGGCCATTGGGTTGTGGGTCAGGGTTTGCAGGAGCGTGCCCGCGAGCGCCAGGCTTGCGCCGATCAGAGCGGCGACCAGGCTTCGTGGCAAACGAGGGTTTTGCGCCAGCGCTTc > 2:192893/1‑149 (MQ=255) ccgcgccgcTGTTAATGCCGAGCAGTGAAGGAGAGGCCATTGGGTTGTGGGTCAGGGTTTGCAGCAGCGTGCCCGCGAGCGCCAGGCTTGCGCCGATCAGAACGGCGACCAGGCTTCGTGGCAAACGAAGGTTTTGCACCAGCGCTTCt < 1:400161/149‑1 (MQ=255) | TTTCTGTCATGGGTATGACGAAATCCGCCTCCTGCGGTCATGACCAGCAGCCAGCTCACGCCGCCCCCGCATGCCGCGATGAATGACAGAGAATAGCCTGCAATCGGCGTCGGACTCAGCGCGCTGGTAAGCGCCATAGCCAGCGCCGCGCCGCTGTTAATGCCGAGCAGTGAAGGAGAGGCCATTGGGTTGTGGGTCAGGGTTTGCAGCAGCGTGCCCGCGAGCGCCAGGCTTGCGCCGATCAGAACGGCGACCAGGCTTCGTGGCAAACGAAGGTTTTGCACCAGCGCTTCT > NC_000913_3_hsa_tpiA/4512943‑4513236 |
Alignment Legend |
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Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 8 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 27 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |