Predicted mutation | |||||||
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evidence | seq id | position | mutation | freq | annotation | gene | description |
RA | NC_000913_3_hsa_pgi | 621,005 | G→C | 9.4% | R62G (CGC→GGC) | fepG ← | iron‑enterobactin 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_pgi | 621,005 | 0 | G | C | 9.4% | 151.7 / 7.5 | 53 | R62G (CGC→GGC) | fepG | iron‑enterobactin ABC transporter permease |
Reads supporting (aligned to +/- strand): ref base G (29/19); new base C (3/2); total (32/21) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 7.27e-01 |
CAGCACCATCGCCACCAGCACGCCGCTCCACGCCCCGGTGTTAAAGCCCATTACGTCAGGGCTGCCGAGCGGGTTACGCATCAGCGACTGAAAAATCGCGCCACTGACGCCCAGTGCTGCGCCAATCAACAGCGCCATCAGCACGCGTGGTAAACGCCATTCGGTGACCACCATCGTCATACTGCGCGGCGCATCGCCCATCAGCGCGGCGAATACCTGCGAGGTTTCCAGCGTGACGGCACCGCTGCGTAATCCCCAGATACCTGCAACCACACAGGCGGAAACCAGCAGCAAA > NC_000913_3_hsa_pgi/620859‑621153 | cAGCACCATCGCCAACTGCACGCCGCCCCACGCCCCGGTGTTAAAGCCCATTACGTCAGGGCTGCCGAGCGGGTTACGCATCGGCGACAGAAAAAGCGCGCCACTGACGCCCAGTGCTGCGCCAATCAACGGCGCCATCAGCACGCGTg < 2:991824/149‑1 (MQ=255) ccATCGCCCCCAGCACGCCGCTCCACGCCCTGGTGTTGATGTCCCTTACGTCAGGGCTGCCGAGCGGGTTACGCATCAGCGACTGTAAGATCGCGCCACTGACGCCCAGTGCTGCGCCAATCAACAGCGCCATCAGCACGCGTGGTaaa < 1:840243/149‑1 (MQ=255) tCGCCACCAGCACGCCGCTCCACGCCCCGGTGTTAAAGCCCATTACGTCAGGGCTGCCGAGCGGGTTACGCATCAGCGACTGAAAAATCGCGCCACTGACGCCCAGTGCTGCGCCAATCAACAGCGCCATCAGCACGCGTGGTAAACGc < 2:718544/149‑1 (MQ=255) gCCACCAGCACGCCGCTCCACGCCCCGGTGTTAAAGCCCATTACGTCAGGGCTGCCGAGCGGGTTACGCATCAGCGACTGAAAAATCGCGCCACTGACGCCCAGTGCTGCGCCAATCAACAGCGCCATCAGCACGCGTGGTAAACGCCa < 1:213946/149‑1 (MQ=255) accaGCACGCCGCTCCACGCCCCGCTGTTAAAGCCCATTACGTCAGGGCTGCCGCGCGGGTTACGCATCAGCGACCGAAAAACCGCGCCACTGACGCCCAGTGCTGCGCCAACCCACAGCCCCATCCGCACGCCTCGCAACCGccctcc > 2:176367/1‑145 (MQ=255) gccgcTCCACGCCCCGGTGTTAAAGCCCATTACGTCAGGGCTGCCGAGCGGGTTACGCATCAGCGACTGAAAAATCGCGCCACTGACGCCCAGTGCTGCGCCAATCAACAGCGCCATCAGCACGCCTGGTAAACGCCATTCGGTGacca > 1:372339/1‑149 (MQ=255) gccgcTCCACGCCCCGGTGTTAAAGCCCATTACGTCAGGGCTGCCGAGCGGGTTACGCATCAGCGACTGAAAAATCGCGCCACTGACGCCCAGTGCTGCGCCAATCAACAGCGCCATCAGCACGCCTGGTAAACGCCATTCGGTGacca > 1:372375/1‑149 (MQ=255) cTCCACGCCCCGGTGTTAAAGCCCATTACGTCAGGGCTGCCGAGCGGGTTACGCATCAGCGACTGAAAAATCGCGCCACTGACGCCCAGTGCTGCGCCAATCAACAGCGCCATCAGCACGCGTGGTAAACGCCATTCGGTGACCACCAt < 1:266553/149‑1 (MQ=255) cTCCACGCCCCGGTATTAAAACCCATTACGTCAGGGCTGCCGAGCGGGTTACGCAACAGCGACTAAAAAATCGCGCCACTGACGCCCGGTGCTGCGCAAAGCAACAGCGCCATCAGCCAGCGTAGGAAACGCCACTCGCTGAccaccac > 2:525848/1‑148 (MQ=255) tCCACGCCCCGGTGTTAAAGCCCCTTACGTCAGGGCTGCCGAGCGGGTTACGCATCAGCGACTGAAAAATCGCGCCACTGACGCCCAGTGCTGCGCCAATCAACAGCGCCATCAGCACGCGTGGTAAACGCCATTCGGTGACCACCATc < 1:481261/149‑1 (MQ=255) tCCACGCCCCGGTGTTAAAGCCCATTACGTCAGGGCTGCCGAGCGGGTTACGCATCAGCGACTGAAAAATCGCGCCACTGACGCCCAGTGCTGCGCCAATCAACAGCGCCATCAGCACGCGTGGTAAACGCCATTCGGTGACCACCATc > 1:752624/1‑149 (MQ=255) cccACGCCCCGGTGTTAAAGCCCATTACGTCAGGGCTGCCGAGCGGGTTACGCATCAGCGACTGAAAAATCGCGCCACTGACGCCCAGTGCTGCGCCAATCAACAGCGCCATCAGCACGCGTGGTAAACGCCATTCGGTGACCACCATc < 1:456020/148‑1 (MQ=255) ccGGTGTTAAAGCCCATTACGTCAGGGCTGCCGAGCGGGTTACGCATCAGCGCCTGAAAAATCGCGCCACTGGCGCCCAGTCCTGCGCCAACCAACACCGCCATCAGCCCACGTGGCAAACGCCCTCCGGCCACCACCATCGCCCTACt > 2:430496/1‑149 (MQ=255) ccGGTGTTAAAGCCCATTACGTCAGGGCTGCCGAGCGGGTTACGCATCAGCGACTGAAAAATCGCGCCACTGACGCCCAGTGATACGCCAATCAACAGCGCCATCAGCACGCGTGGTAAACGCCATTCGGTGACCACCATCGTCATaat > 1:987115/1‑147 (MQ=255) tgtTAAAGCCCATTACGTCAGGGCTGCCGAGCGGGTTACGCATCAGCGACTGAAAAATCGCGCCGCTGACGCCCAGTGCTGCGTCAACAAATAGCCGCAGCACCGCTCGCGGTAAACGCCATTCGCTGACCACCATCTTCATACTgctc > 2:965339/1‑147 (MQ=255) aaGCCCATTACGTCAGGGCTGCCGAGCGGGTTACGCATCAGCGACTGAAAAATCGCGCCACTGACGCCCAGTGCTGCGCCAATCAACAGCGCCATCAGCACGCGTGGTAAACGCCATTCGGTGACCACCATCGTCATACTGCGCGgcgc > 1:549008/1‑149 (MQ=255) aGCCCATTACGTCAGGGCTGCCGAGCGGGTTACGCATCAGCGACTGAAAAATCGCGCCACTGACGCCCAGTGCTGCGCCAATCAACAGCGCCATCAGCACGCGTGGTAAACGCCATTCGGTGACCACCATCGTCATACTGCCCGGCGCa > 1:110276/1‑149 (MQ=255) cccATTACGTCAGGGCTGCCGAGCGGGTTACGCATCAGCGACTGAAAAATCGCGCCACTGACGCCCAGTGCTGCGCCAATCAACAGCGCCATCAGCACGCGTGGTAAACGCCATTCGGTGACCACCATCGTCATACTGCGCGGCGCATc > 1:754543/1‑149 (MQ=255) cccATTACGTCAGGACTGCCGAGCAGGTTACGCATCAGCGACTGAAAAATCGCGCCACTGACGCCCAGTGCTGCGCCAATCAACAGCGCCATCAGCACGCGTGGTAAACGCCATTCGGTGACCACCATCGACATACTGCGCGGCGCATc > 1:868771/1‑149 (MQ=255) aTTACGTCAGGGCTGCCGAGCGGGTTACGCATCAGCGACTGAAAAATCGCGCCACTGACGCCCAGTGCTGCGCCAATCAACAGCGCCATCAGCACGCGTGGTAAACGCCATTCGGTGACCACCATCGTCATACTGCGCGGCGCATCGcc > 2:623933/1‑149 (MQ=255) ttACGTCAGGGCTGCCGAGCGGGTTACGCATCAGCGACTGAAAAATCGCGCCACTGACGCCCAGTGCTGCGCCAATCAACAGCGCCATCAGCACGCGTGGTAAACGCCATTCGGTGACCACCATCGTCATACTGCGCGGCGCATCGccc > 1:878810/1‑149 (MQ=255) aCGTCAGGGCTGCCGATCGGGTTACTCATTAGCGACTGAAAAATCGCGCCACTGACGCCCAGTGCTGCGCCAATCAACAGCGCCATCAGCACGCGTGGTAAACGCCATTCGGTGACCACCATCGTCATACTGCGCGGCGCATCGCCCAt < 1:269187/149‑1 (MQ=255) gTCAGGGCTGCCGAGCGGGTTACGCATCAGCGACTGAAAAATCGCGCCACTGACGCCCAGTGCTGCGCCAATCAACAGCGCCATCAGCACGCGTGGTAAACGCCATTCGGTGACCACCATCGTCATACTGCGCGGCGCATCGCCCATCa > 2:540825/1‑149 (MQ=255) gacTGCCGTGCATGTTACGCATCAGCGACTGAAAAATCGCGCCACTGACGCCCAGTGCTGCGCCAATCAACAGCGCCATCAGCACGCGTGGTAAACGCAATTCGGTGACCACCATCGTCATACTGCGCGGCGCATCGCCCATCAGcgcg > 2:10799/3‑149 (MQ=255) gCATCAGCGACTGAAAAATCGCGCCACTGACGCCCAGTGCTGCGCCAATCAACAGCGCCATCCGCACGCGTGGTAAACACCATTCGGTGACCACCATCGTCATACTGCGCGGCGCATCGGGCATCAGCGCGGCGAATACCTGCGAGGtt > 1:293841/1‑149 (MQ=255) aCTGAAAAATCGCGCCACTGACGCCCAGTGCTGCGCCAATCAACAGCGCCATCAGCACGCGTGGTAAACGCCATTCGGTGACCACCATCGTCATACTGCGCGGCACATCGCCCATCAGCGCGCCCAATAGCTCCGAGGTTTCCAACGTg > 1:759713/1‑149 (MQ=255) aaaaaTCGCGCCACTGACGCCCAGTGCTGCGCCAATTACCACCGCCATCAGCACGCGTGGTAAACGCCATTCGGTAACCACCATCGTCATACTGCGCGGCGCATCGCCCATCAGCGCGGCGAATACCTGCGAGGTTTCAAGCGTGACgg > 1:38751/1‑149 (MQ=255) aaaaaTCGCGCCACTGACGCCCAGTGCTGCGCCAATCAACAGCGCCATCAGCACGCGTGGTAAACGCCATTCGGTGACCACCATCGTCATACTGCGCGGCGCATCGCCCATCAGCGCGGCGAATACCTGCGAGGTTTCCAGCGTGACgg > 2:237458/1‑149 (MQ=255) aaTCGCGCCACTGACGCCCAGTGCTGCGCCAATCAACAGCGCCATCAGCACGCCTGGTAAACGCCATTCGGTGACCACCATCGTCATACTGCGCGGCGCATCGCCCATCAGCGCGGCGAATACCTGCGAGGTTTCCATCGTGACGGCAc < 2:372375/149‑1 (MQ=255) aaTCGCGCCACTGACGCCCAGTGCTGCGCCAATCAACAGCGCCATCAGCACGCCTGGTAAACGCCATTCGGTGACCACCATCGTCATACTGCGCGGCGCATCGCCCATCAGCGCGGCGAATACCTGCGAGGTTTCCATCGTGACGGCAc < 2:372339/149‑1 (MQ=255) gcgcTACTGACGCCCAGTGATGCGCCAATCAACAGCGCCATCAGCACGCGTGGTAAACGCTATTCGGTGACCACCATCGTCATACTGCGCGGCGCATCGCCCATCAGCGCGGCGAATACCTGCGAGGTTTCCAGCGTGACGGCACCGCt < 2:835270/149‑1 (MQ=255) gcgcCACTGACGCCCAGTGCTGCGCCAATCAACAGCGCCATCAGCACGCGTGATAAACGCCATTCGGTGACCACCATCGACATACTGCGCGGCGCATCGCCCATCAGCGCGGCGACTACCTGCGAGGTTCCCCGCGTGACGGCCCCGCt > 2:943414/1‑149 (MQ=255) gcCACTGACGCCCAGTGCTGCGCCAATCAACAGCGCCATCAGCACGCGTGGTAAACGCCATTCGGTGACCACCATCGTCATACTGCGCGGCGCATCGCCCATCAGCGCGGCGAATACCTGCGAGGTTTCTAGCGTGACGGCagtgctac > 1:376975/1‑142 (MQ=255) gcCACTGACGCCCAGTGCTGCGCCAATCAACAGCGCCATCAGCACGCGTGGTAAACGCCATTCGGTGACCACCATCGTCATACTGCGCGGCGCATCGCCCATCAGCGCGGCGAATACCTGCGAGGTTTCCAGCGTGACGGCACcgccgc > 1:672119/1‑149 (MQ=255) aCGCCCAGTGCTGCGCCAATCAACAGCGCCATCAGCACGCGTGGTAAACGCCATTCGGTGACCACCATCGTCATACTGCGCGGCGCATCGCCCATCAGCGCGGCGAATACCTGCGAGGTTTCCAGCGTGACGGCAACGCGCCGTAATcc > 2:444904/1‑149 (MQ=255) gCCCAGTGCTGCGCCAATCAACAGCGCCATCAGCACGCGTGGTAAACGCCATTCGGTGACCACCATCGTCATACTGCGCGGCGCATCGCCCATCAGCGCGGCGAATACCTGCGAGGTTTCCAGCGTGACGGCACCGCTGCGTAATcccc < 2:798367/149‑1 (MQ=255) gCCCAGTGATGCGCCAATCAACAGCGCCATCAGCACGCGTGGTAAACGCCATTCGGTGACCACCATCGTCATACTGCGCGGCGCATCGCCCATCAGCGCGGCGAATACCTGCGAGGTTTCCAGCGTGACGGCACCGCTGCGTAATcccc < 1:49044/149‑1 (MQ=255) gCCCAGTGATGCGACAATCAACAGCGCCATCAGCACGCGTGGTAAACGCCATTCGGTGACCACCATCGTCATACTGCGCGGCGCATCGCCCATCAGCGCGGCGAATACCTGCGAGGTTTCCAGCGTGACGGCACCGCTGAGTAATcccc > 2:623316/1‑149 (MQ=255) ccAGTGCTGCGCCAATCAACAGCGCCATCAGCACGCGTGGTAAACGCCATTCGGTGACCACCATCGTCATACTGCGCGGCGCATCGCCCATCAGCGCGGCGAATACCTGCGAGGTTTCCAGCGTTACGGCACCGCTGCGTCATCCCCAg > 2:552967/1‑149 (MQ=255) ccAGTGCTGCGCCAATCAACAGCGCCATCAGCACGCGTGGTAAACGCCATTCGGTGACCACCATCGTCATACTGCGCGGCGCATCGCCCATCAGCGCGGCGAATACCTGCGAGGTTTCCAGCGTGACGGCACCGCTGCGTAATCCCCAg < 1:623933/149‑1 (MQ=255) tgcGCCAATCAACAGGGCCATCAGCACGCGTGGTACACGCCATTCGGTGACCGCCAGCGTCATACTGCGCGGCGCATCGCCCATCAGCGCGGCGAATACCTGCGAGGTTTCCCGCGTGACGGCACCGCTGCGTAATCCCCAGATACCTg < 2:712262/149‑1 (MQ=255) gcCAATCAACAGCGCCATCAGCACGCGTGGTCCACCAGGTACGTTGACCACCATCGTCATACTGCGCGGCGCATCGCCCATCAGCGCGGCGAATACCTGCGGGGTTTCCAGCGTGACGGCACCGCTGCGGAAAACCCATATACCTGCaa > 1:491116/1‑149 (MQ=255) ccAATCAACAGCGCCATCAGCACGCGTGGTAAACGCCATTCGGTGACCACCATCGTCATACTGCGCGGCGCATCGCCCATCAGCGCGGCGAATACCTGCGAGGTTTCCAGCGTGACGGCACCGCCGCGTAATCCCCAGATACCTGCAAc > 1:562557/1‑149 (MQ=255) cAATCAACAGCGCCATCAGCACGCGTGGTAAACGCCATTCGGTGGCCACCATCGTCATACTGTGCGGCGCATCGCCCATCAGCGCGGCGAATACCTGCGAGGTTTCCAGCGTGACGGCACCGCTGCGTAATACCAAGCTACATgagacc > 1:532128/1‑144 (MQ=255) aTCAACAGCGCCATCAGCACGCGTGGTAAACGCCATTCGGTGACCACCATCGTCATACTGCGCGGCGCATCGCCCATCAGCGCGGCGAATACCTGCGAGGTTTCCAGCGTGACGGCACCGCTGCGTAATCCCCAGATACCTGCAACcac < 2:878810/149‑1 (MQ=255) tCAACAGCGCCATCAGCACGCGTGGTAAACGCCATTCGGTGACCACCATCGTCATACTGCGCGGCGCATCGCCCATCAGCGCGGCGAATACCTGCGAGGTTTCCAGCGTGACGGCACCGCTGCGTAATCCCCAGATACCTGCAACcaca > 2:837347/1‑149 (MQ=255) aGCGCCATCAGCACGCGTGGTAAACGCCATTCGGTGACCACCATCGTCATACTGCGCGGCGCATCGCCCATCAGCGCGGCGAATACCCGCGAGGTTTCCAGCGTGACGGCACCGCTGCGTAATCCCCAGATACCTGCAACCACACAGGc < 1:237458/149‑1 (MQ=255) aGCGCCACCAGCCGGGGTGGTCACCGCCATTCGGTCACCCCCATCGTCAGACTTCGCGGCGCACCGCCCATCATCGCGGTGAATACCTGCGAGGTTTCCAGCGTGACGGCACCTCTGCGTAATCCCCAGATACCTGCAACCACACAGGc < 2:699557/149‑1 (MQ=255) cATCAGCACGCGTGGTAAACGCCATTCGGTGACCACCATCGTCATACTGCGCGGCGCATCGCCCATCAGCGCGGCGAATACCTGCGAGGTTTCCAGCGTGACGGCACCGCTGCGTAATCCCCAGATACCTGCCACCACACAGGCGGaaa > 2:937525/1‑149 (MQ=255) aTCAGCACGCGTGGTAAACGCCATTCGGTTACCACCGTCGTCATACTGCGGGGCGCATCGCCCATCAGCGCGGCGAATACCTGCGAGGTTTACAGCGTGACGGCACCGCTGCGTAATCCCCAGATACATGCAACCACACAGGCGGAAAc > 2:819395/1‑149 (MQ=255) cAGCACGCGTAGTAAAGGCCATTCGGTGACCACCATCGCCATACTGCGCGGCGCATCGCCCATCAGCGCGGCGAATACCTGCGAGGTTTCCAGCGTGACGGCACCGCTGCGTAATCCCCAGATACCTGCAACCACACAGGCGGAAACca < 2:1001622/149‑1 (MQ=255) cACGCGTGGTACACGCCAATCGGTGGCCTGCATCCTCATACTGCGCGGCGCATCGCCCATCAGCGCGGCGAATACCTGCGAGGTTTCCAGCGTGACGGCACCGCTGCGTAATCCCCAGATACCTGCAACCACACAGGCGGAAACcagca < 1:272066/149‑1 (MQ=255) aCGCGTGGTAAACGCCATTCGGTGACCACCATCGTCATACTGCGCGGCGCATCGCCCATCAGCGCGGCGAATACCTGCGAGGTTTCCAGCGTGACGGCACCGCTGCGTAATCCCCAGATACCTGCAACCACACAGGCGGAAACcagcag < 1:965339/149‑1 (MQ=255) gTGGTAAACGCCATTCGGTGACCACCATCGTCATACTGCGCGGCGCATCGCCCATCAGCGCGGCGAATACCTGCGAGGTTTCCAGCGTGACGGCACCGCTGCGTAATCCCCAGATACCTGCAACCACACAGGCGGAAACCAGCAGCaaa < 1:540825/149‑1 (MQ=255) | CAGCACCATCGCCACCAGCACGCCGCTCCACGCCCCGGTGTTAAAGCCCATTACGTCAGGGCTGCCGAGCGGGTTACGCATCAGCGACTGAAAAATCGCGCCACTGACGCCCAGTGCTGCGCCAATCAACAGCGCCATCAGCACGCGTGGTAAACGCCATTCGGTGACCACCATCGTCATACTGCGCGGCGCATCGCCCATCAGCGCGGCGAATACCTGCGAGGTTTCCAGCGTGACGGCACCGCTGCGTAATCCCCAGATACCTGCAACCACACAGGCGGAAACCAGCAGCAAA > NC_000913_3_hsa_pgi/620859‑621153 |
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: ‑ |