Predicted mutation | |||||||
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evidence | seq id | position | mutation | freq | annotation | gene | description |
RA | NC_000913_3_hsa_pgi | 2,872,915 | C→G | 11.8% | intergenic (‑95/+99) | ftsB ← / ← ygbE | cell division protein/DUF3561 family inner membrane protein |
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 | 2,872,915 | 0 | C | G | 11.8% | 103.6 / 7.4 | 41 | intergenic (‑95/+99) | ftsB/ygbE | cell division protein/DUF3561 family inner membrane protein |
Reads supporting (aligned to +/- strand): ref base C (15/21); new base G (3/2); total (18/23) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 6.38e-01 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 5.92e-01 |
GAATACTGTAGCCAGACCAGAATAGCCAGCAACAGCAGCGTTAGTTTACCCATCCTGCCCCCTGAAAAACGGCATCATCATCCCATGCATCCGAAGACGACTCTACATCCTCTGTTGGGGATACCGCGACAACGCGGGCAAATGTACCACATTTGTCCATTGTTACGTATACCCAGGGCGTGCAGAACATAATCTCATTATTAGTTACGGTTTGAATTATGAACAGAGGAGACGGGAAAGTACAAATTAGCCCAGTAGCCACATAAACAGTGCGCCAAACATAATGCCTACTG > NC_000913_3_hsa_pgi/2872768‑2873060 | gAATACTGTAGCCAGACCAGAATAGCCAGCAACAGCAGCGTTAGTTTACCCATCCTGCCCCCTGAAAAACGGCAGCATCATCCCATGCATCCGAAGACGACTCTACATCCTCTGTTGGGGATACCGCGACAACGCGGGCAAATGTACca < 2:863592/149‑1 (MQ=255) aTACTGTAGCCAGACCAGAATAGCCAGCAACAGCAGCGTTAGTTTACCCATCCTGCCCCCTGAAAAACGGCATCATCATCCCATGCATCCGAAGACGACTCTACATCCTCTGTTGGGGATACCGCGACAACGCGGACAATTGTACcaca > 2:47029/1‑149 (MQ=255) tACTGGAGCCAGACCAGAATAGCCAGCAACAGCAGCGTTAGTTTACCCATCCTGCCCCCTGAAAAACGGCATCATGATCCCATGCAGCGGAAGACGACTCTACATCCTCTGTTGGGGATACCGCGACAACGCGGGCAAATGTACCACAt < 2:414849/149‑1 (MQ=255) cTGTAGCCAGACCAGAATAGCCAGCAACAGCAGCGTTAGTTTACCCATCCTGCCCCCTGAAAAACGGCATCATCATCCCATGCATCCGAAGCCGACTCTACATCCTATGTTGTGGATACCGGGACAACGCGCGCAACTGTTAGACAttt > 2:144388/1‑149 (MQ=255) ttgcaagaccagaATAGCCAGCAACAGCAGCGTTAGTTTACCCATCCTGCTCCCTGAAAAACGGCATCATCATCCCATGCATCCGAAGACGACTCTACATCCTCTGTTGGGGATACCGCGACAACGCGGGCAAATGTACCACATTTGTc < 1:459125/144‑1 (MQ=255) cagaccagaATAGCCGGGAACAGCAGCGTTAGTTTACCCATCCTGCCCCCTGAAAGACGGCGTCATCATCCCATGCATCCGACGATGCCTTTACATCCTCTGTTGGGGATACCGCGACAACGCGGGCACATGTACCACATTTGTCCAtt < 2:253030/149‑1 (MQ=255) cagaccagaATAGCCAGCAACAGCAGCGTTAGTTTACCCATCCTGCCCCCTGAAAAACGGCATCATCATCCCATGCATCCGAAGACGACTCTACATCCTCTGTTGGGGATACCGCGAAAAAGTGGGGAAATGTACCACTTTTGTCCAtt > 2:709038/1‑149 (MQ=255) gaccagaATAGCCAGCAACAGCAGCGTTAGTTTACCCATCCTGCCCCCTGAAAAACGGCATCATCATCCCATGCATCCGAAGACGACTCTACATCCTCTGTTGGGGATACCGAGACAACGCGGGCAAATGTACCACATTTATCCATTGt > 2:643280/1‑149 (MQ=255) aaTAGCCAGCAACAGCAGCGTTAGTTTACCCATCCTGCCCCCTGAAAAACGGCATCATCATCCCATGCATACGAAGCCGACTCTACATCCTCTGTTGAGGATACCGCGACAACGCGGGCAAATGTGCCACATTTGTCCATTGTTACTta > 2:197715/1‑149 (MQ=255) aaTAACCAGCAACAGCAGCGTTAGTTTACCCATCCTGCCCCCTGAAAAACGGCATCATCATCCCATGCATCCGAAGACGACTCTACATCCTCTGTTGGGGATACCGCGACAACGCGGGCAAATGTACCACATTTGTCCATTGTTACGta > 2:988234/1‑149 (MQ=255) gCCATCAACAGCAGCGTGAGTTTACCCATCCTGCGCCCTGAAAAACGGCATCATCATCCCATGCATCCGAAGACGACTCTACATCCTCTGTTGGGGATACCGCGACAACGCGGGCAAATGTACCACATTTGTCCATTGTTACGTATAcc < 2:838837/149‑1 (MQ=255) cAGCAACAGCAGCGTTAGTTTACCCATCCTGCCCCCTGAAAAACGGCATCATCATCCCATGCATCCGAAGACAACTATACATCCTCTGTTGGGGATACCGCGACAACGCGGGCAAATGTACCACATTTGTCGATTGTTACATATACCCa > 1:49299/1‑149 (MQ=255) aCAGCAGCGTTAGTTTACCCATCCTGCCCCCTGAAAAACGGCATCATCATCCCATGCATCCGAAGACGACTCTACATCCTCTGTTGGGGATACCGCGACAACGCGGGCAAATGTACCACATTTGTCCATTGtt < 2:544115/133‑1 (MQ=255) aCAGCAGCGTTAGTTTACCCATCCTGCCCCCTGAAAAACGGCATCATCATCCCATGCATCCGAAGACGACTCTACATCCTCTGTTGGGGATACCGCGACAACGCGGGCAAATGTACCACATTTGTCCATTGtt > 1:544115/1‑133 (MQ=255) cGTTAGTTTACCCATCCTGCCCCCTGAAAAACGGCATCATCATCCCATGCATCCGAAGACGACTCTACATCCTCTGTTGGGGATACCGCGACAACGCGGGCAAATGTACCACATTTGTCCATTGTTACGTATACCCAGGGCGTGCAGaa < 1:278669/149‑1 (MQ=255) cGTTAGTTTACCCATCCTGCCCCCTGAAAAACGGCATCATCATCCCATGCATCCGAAGACGACTCTACATCCTCTGTTGGGGATACCGCGACAACGCGGGCAAATGTACCACATTTGTCCATTGTTACGTATACCCAGGGCGTGCAGaa < 2:705234/149‑1 (MQ=255) cGTTAGTTTACCCATCCTGCCCCCTGAAAAACGGCATCATCATCCCATGCATCCGAAGACGACTCTACATCCTCTGTTGGGGATACCGCGACAACGCGGGCAAATGTACCACATTTGTCCATTGTTACGTATACCCAGGGAGTGCAGaa > 1:626232/1‑149 (MQ=255) ttactactCCTGCCCCCTGAAAAACCGCATCATCATCCCATGCAGCCGAAGACGACTCTACATCCTCTGTCGGGGAGACCGCGACAACGCGGGCAAAGGTACCACATTTGTCCATTGTTACGTATACCCAGGGCGTGCAGAACATAAtc < 2:1005169/142‑1 (MQ=255) ctaTCCTGCCCCCTGAAAAACGGCATCATCATCCCATGCATCCGAAGACGTTTCTACATCTTTTGTTGGGGATACCGCGACAACGCGGGCAAATGTACCACATTTGTACATTGTTACGTATACCCAGGGCGTGCAGAACATAATCTCat < 1:355649/147‑1 (MQ=255) cgtctggccgccTGAAAAACGGCAGTATCAGCCCATGCATCCGAAGACGACTCTACATCCTCTGTTGGGGATACCGCGACAACGCGGGCAAATGTACCACATTTGTCCATTGTTACGTATACCCAGGGCGTGCAGAACATAATCTCatt < 2:396801/143‑1 (MQ=255) cTGCCCCCTGAAAAACGGCATCATCATCCCATGCATCCGAAGACGACTCTACATCCTCTGTTGGGGATACCGCGACAACGCGGGCAAATGTACCACATTTGTCCATTGTTACGTATACCCAGGGCGTGCAGAACATAATCTCAttatta < 2:587692/149‑1 (MQ=255) ccccTGAAAAATGGCATCATCATCCCATGCATCCGAAGACGACTCTACATCCTCTGTTGGGGATCCCGCGACAAGGCGGGAAAATGTACCACATTTGTCCATTGTTACGTATACCCAGGGCGTGCAGAACATACTCTTATTATTAGTTa < 2:726119/149‑1 (MQ=255) ccccTGAAAAACGGCATTAGCATCCCATGCATCCGAAGATGACTCTACATCCTCTGTTGGGGATACCGCGACAACGCGGGCAAATGTACCACATTTGTCCATTGTTACGTATACCCAGGGCGTGCAGAACATAATCTCATTATTAGTTa < 1:381956/149‑1 (MQ=255) gAAAAACGGCATCATCATCCCATGCATCCGAAGACGACTCTACATCCTCTGTTGGGGATACCGCGACAACGCGGGCAAATGTACCACATTTGTCCATTGTTACGTATACCCAGGGCGTGCAGAACATAATCTCATTATTAGTTACGGtt < 1:514667/149‑1 (MQ=255) catcatcatCCCATGCATCCGAAGACGACTCTACATCCTCTGTTGGGGATACCGCGACAACGCGGGCAAATGTACCACATTTGTCCATTGTTACGTATACCCAGGGCGTGCAGAACATAATCTCATTATTAGTTACGGTTTGAATTATg < 1:613159/149‑1 (MQ=255) tcatcatcCCATGCATCCGAAGACGACTCTACATCCTCTGTTGGGGATACCGCGACAACGCGGGCAAATGTACCACATTTGTCCATTGTTACGTATACCCAGGGCGTGCAGAACATAATCTCATTATTAGTTACGGTTTGAATTATGaa < 1:903885/149‑1 (MQ=255) tcatcatcCCATGCATCCGAAGACGACTCTACATCCGCTGTTGAGGATACCGCGACAACGCGGGCAAATGTACCACATTTGTCCATTGTTACGTATACCCAGGGCGTGCAGAACATAATCTCATTATTAGTTACGGTTTGAATTATGaa < 1:830573/149‑1 (MQ=255) atcatcCCATGCATCCGAAGACGACTCTACATCCTCTGTTGGGGATACCGCGACAACGCGGGCAAATGTACCACATTTGTCCATTGTTACGTATACCCAGGGCGTGCAGAACATAATCTCAATATTAGTTACGGTATGAATTATGAACa > 1:300502/1‑149 (MQ=255) aTGCATCCGAAGACGACTCTAAATCCTCTGTTGGGGATACCGCGACAACGCGGGCAAATGTACCACATTTGTCCATTGTTACGTATACCCAGGGCGTGCAGAACATAATCTCATTATTAGTTACGGTTTGAATTATGAACAGAGGAGAc > 2:885674/1‑149 (MQ=255) tGCATCCGAAGACGACTCTACATCCTCTGGTGGGGATACCGCGACAACGCGGGCAAATGTACCACATTTGTCCATTGTTACGTATACCCAGGGCGTGCAGAACATAATCTCATTATTAGTTACGGTTTGAATTATGAACAGAGGAGACg < 1:706406/149‑1 (MQ=255) gacgacTCTACATCCTCTGTTGGGGATACCGCGACAACGCGGGCAAATGTACCACATTTGTCCATTGTTACGTATACCCAGGGCGTGCAGAACATAATCTCATTATTAGTTACGGTTTGAATTATGAACAGAGGAGACGGGAAAGTACa < 1:936866/149‑1 (MQ=255) gacTCTACATCCTCTGTTGGGGATACCGCGACGACGCGGGCAAATGTACCACATTTGTCCATTGTTAGGTATAGCCAAGGCGTGCAGAACATAATTTCATTATTAGTGAAGTATTTAATTATGAACAGAGGAGACGGGAAAGTaacaat > 2:323745/1‑144 (MQ=255) gacTCTACATCCTCTGTTGGGGATACCGCGACAACGCGGGCAAATGTACGACATTTGTCCATTGTTACGTATACCCAGGGCGTGCAGAACATAATCTCATTATTAGTTACGGTTTGaa < 1:848826/118‑1 (MQ=255) gacTCTACATCCTCTGTTGGGGATACCGCGACAACGCGGGCAAATGTACGACATTTGTCCATTGTTACGTATACCCAGGGCGTGCAGAACATAATCTCATTATTAGTTACGGTTTGaa < 1:848665/118‑1 (MQ=255) gacTCTACATCCTCTGTTGAGGATACCGCGACAACGCGGGCAAATGTACGACATTTGTCCATTGTTACGTATACCCAGGGCGTGCAGAACATAATCTCATTATTAGTTACGGTTTGaa > 2:848826/1‑118 (MQ=255) gacTCTACATCCTCTGTTGAGGATACCGCGACAACGCGGGCAAATGTACGACATTTGTCCATTGTTACGTATACCCAGGGCGTGCAGAACATAATCTCATTATTAGTTACGGTTTGaa > 2:848665/1‑118 (MQ=255) cATCCTATGTTGGGGATACCGCGACAACGCGGGCAAATGTACCACATTTGTCCATTGTTACGTATACCCAGGGCGTGCAGAACATAATCTCATTATTAGTTACGGTTTGAATTATGAACAGAGGAGACGGGAAAGTACAAATTAGCCCa < 2:808010/149‑1 (MQ=255) ctctGTTGGGGATACCGCGACAACGCGGGCAAATGTACCACATTTGTCCATTGTTACGTATACCCAGGGCGTGCAGAACATAATCTCATTATTAGTTACGGTTTGAATTATGAACAGAGGAGACGGGAAAGTACAAATTAGCCCAGTAg > 2:585918/1‑149 (MQ=255) ctctGTTGGGGATACCGCGACAACGCGGGCAAATGTACCACATTTGTCCATTGTTACGTATACCCAGGGCGTGCAGAACATAATCTCATTATTAGTTACGGTTTGAATTATGAACAGAGAAGACGGGAAAGTACAAATTAGCCCAGTAg > 1:753301/1‑149 (MQ=255) gATACCGCGACAACGCGGGCAAATGTACCACATTTGTCCATTGTTACGTATACCCAGGGCGTGCAGAACATAATCTCATTATTAGTTACGGTTTGAATTATGAACAGAGGAGACGGGAAAGTACAAATTAGCCCAGTAGCCACATAAAc > 1:548578/1‑149 (MQ=255) aTACCGCGACAACGCGGGCAAATGTACCACATTTGTCCATTGTTACGTATACCCAGGGCGTGCAGAACATAATCTCATTATTAGTTACGGTTTGAATTATGAACAGAGGAGACGGGAAAGTACAAATTAGCCCAGTAGCCACATAAACa > 2:652205/1‑149 (MQ=255) tGTACCACATTTGTCCATTGTTACTTATACCCAGGGCGTGCAGAACATAATCTCATTATTAGTTACGGTTTGAATTATGAACAGAAGGGTCGGGAAAGTACAAATGATCCCAGTAGCCACATAAACAGTGCGCCAAACATAATGCCTAc < 1:144388/149‑1 (MQ=255) tACCACATTTGTCCATTGTTACGTATACCCAGGGCGTGCAGAACATAATCTCATTATTAGTTACGGTTTTAATTATGAACAGAGGAGACGGGAAAGTACAAATTAGCCCAATAGCCACATAAACAGTGAGCAAAAGATAATTCATACtt > 1:170452/1‑148 (MQ=255) | GAATACTGTAGCCAGACCAGAATAGCCAGCAACAGCAGCGTTAGTTTACCCATCCTGCCCCCTGAAAAACGGCATCATCATCCCATGCATCCGAAGACGACTCTACATCCTCTGTTGGGGATACCGCGACAACGCGGGCAAATGTACCACATTTGTCCATTGTTACGTATACCCAGGGCGTGCAGAACATAATCTCATTATTAGTTACGGTTTGAATTATGAACAGAGGAGACGGGAAAGTACAAATTAGCCCAGTAGCCACATAAACAGTGCGCCAAACATAATGCCTACTG > NC_000913_3_hsa_pgi/2872768‑2873060 |
Alignment Legend |
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Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 13 ≤ ATCG/ATCG < 27 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |