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 | 4,307,276 | 0 | A | T | 25.0% | 23.4 / 11.5 | 21 | L169Q (CTG→CAG) | alsK | D‑allose kinase |
Reads supporting (aligned to +/- strand): ref base A (9/6); new base T (2/3); total (11/10) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 6.17e-01 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 4.35e-01 | |||||||||||
Rejected as consensus: Frequency below/above cutoff threshold. |
GAAAGGGGCGTTTTCCGCATGGACGAAAAGATCGCGCAATGGGTAATTTCGGGGCTGTTGTTCGTACCAGCGTCTTAGCGCCATTCCAGAGCAATTGGTTTCCAGGCACCCAGGATTGCCACACGCGCAGTGTTGGGTCATATCTCCCAGGGGGATATGACCCAGTTCGCCTGCCACAC‑CGTGTGCACCCGTCCACGGCGCACCGTTCATCCACACTGCGAACCCCATCCCCGTACCGAGATAGGCCGCCAGAACCAGTTGTTGCGTAAGGCGGTTTTCTACTACGTCCCAGGAG > NC_000913_3_hsa_tpiA/4307128‑4307422 | gAAAGGGGCGTTTTCCGTATGGACGAAAAGATCGCGCAATGGGTAATTTCGGGGCTGTTGTTCGTACCAGCGTCTTAGCGCCATTCCAGAGCAATTGGTTTCCAGGCACCCAGGATTGCCACACGCGCAGTGTTGGGTCATATCTCCCa < 1:408586/149‑1 (MQ=255) aaGGGGCGTTGTCCGCATGGACGAAAAGATCGCGTAATGGGTAATTTCGGGGCTGTTGTTCGTACCAGCGTCTTAGCGCCATTCCAGAGCAAGTGGTTTCCAGGCAACCGGTATGGCCACACGCGCAGTGTTGGGTCATATCTCCCAgg < 1:415678/149‑1 (MQ=255) tCCGCATGGACGATAAGATCGCGCAATGGGCATTTCCTTGTCTGTTGTTCGTACCAGCGTCTTAGCGCCATTCCAGAGCAATTGGTTTCCAGGCACCCAGGATTGCCACACGCGCAGTGTTGGGTCATATCTCCCAGGGGGATATGAcc < 1:221715/149‑1 (MQ=255) ccGCATGGACGAAAAGATCGCGCAATGGGTAATTTCGGGGCTGTTGTTCGTACCAGCGTCTTAGCGCCATTCCAGAGCAATTGGTTTCCAGGCACCCAGGATTGCCACACGCGCAGTGTTGGGTCATATCCCCCTGGGAGATATGAccc < 2:7821/149‑1 (MQ=255) ggACGAAAAGATCGCGTAATGGGTAATTTCGGGGCTGTTGTTCGTACCAGCGTCTTAGCGCCATTCCAGAGCAATTGGTTTCCAGGCACCCAGGATTGCCACACGCGCAGTGCTGGGTCATATCCCCCTGGGAGATATGACCCaacact < 2:58853/149‑6 (MQ=38) ggACGAAAAGATCGCGCAATGGGTAATTTCGGGGCTGTTGTTCGTACCAGCGTCTTAGCGCCATTCAAGAGCAATTGGTTTCCAGGCACACAGGATTGCCACACGCGCGGTGTTGAGACATATCCCCCAGGTGGATATGACCCAATTcc > 2:328593/1‑148 (MQ=255) gAAAAGATCGCGCAATGGGTAATTTCGGGGCTGTTGTTCGTACCAGCGTCTTAGCGCCATTCCAGAGCAATTGGTTTCCAGGCACCCAGGATTGCCACACGCGCAGTGTTGGGTCATATCCCCCTGGGAGATATGa < 2:334558/136‑1 (MQ=255) gAAAAGATCGCGCAATGGGTAATTTCGGGGCTGTTGTTCGTACCAGCGTCTTAGCGCCATTCCAGAGCAATTGGTTTCCAGGCACCCAGGATTGCCACACGCGCAGTGTTGGGTCATATCCCCCTGGGAGATATGa > 1:334558/1‑136 (MQ=255) cgagcAATGGGTAATTTCGGGGCTGTTGTTCGTACCGGCGTCTTAGCGCCATTCCAGAGCAATTGGTTTCCAGGCACCCAGGATTGCCACACGCGCAGTGTTGGGTCATATCTCCCAGGGGGATATGACCCAGTTCGCCTGCCACAC‑Cg < 2:309023/146‑1 (MQ=255) gggCTGTTGTTCGTACCAGCGTCTTAGCGCCATTCCAGAGCAATTGGTTTCCAGGCACCCAGGATTGCCACACGCGCAGTGTTGGGTCATATCTCCCAGGGGGATATGACCCAGTTCGCCTGCCACAC‑CGTGTGCACCCGTCCACGgcg > 1:304387/1‑149 (MQ=255) ttCGTACCAGCGTCTTAGCGCCATTCCAGAGCAATTGGTTTCCAGGCACCCAGGATTGCCACACGCGCAGTGTTGGGTCATATCTCCCAGGGGGATATGACCCAGTTCGCCTGCCACAC‑Cgt > 1:300776/1‑122 (MQ=255) ttCGTACCAGCGTCTTAGCGCCATTCCAGAGCAATTGGTTTCCAGGCACCCAGGATTGCCACACGCGCAGTGTTGGGTCATATCTCCCAGGGGGATATGACCCAGTTCGCCTGCCACAC‑Cgt < 2:300776/122‑1 (MQ=255) aGCGTCTTAGCGCCATTCCAGAGCAATTGGTTTCCAGGCACCCAGGATTGCCACACGCGCAGTGTTGGGTCATATCTCCCAGGGGGATATGACCCAGTTCGCCTGCCACAC‑CGTGTGCACCCGTCCACGGCGCACCGTTCATCCACACt > 1:262459/1‑149 (MQ=255) gCGTCTTAGCGCCATTCCAGAGCAATTGGTTTCCAGGCACCCAGGATTGCCACACGCGCGGTGTTGGGTCATATCTCCCAGGGGGATATGACCCAGTTCGCCTGCCCCAC‑CGTGTGCACCCGTCCACGGCGCACCGTTCATCCACACTg > 2:113005/1‑149 (MQ=255) aTTCCAGAGCAATTGGTTTCCAGGCACCCAGGATTGCCACACGCGCAGTGTTGGGTCATATCTCCCAGGGGGATATGACCCAGTTCGCCTGCCACAC‑CGTGTGCACCCGTCCACGGCGCACCGTTCATCCCCACTGCGAACCCACTccc > 2:232066/1‑149 (MQ=255) ttGGTTTCCAGGCACCCAGGATTGCCACACGCGCAGTGTTGGGTCATATCTCCCAGGGGGATATGACCCAGTTCGCCTGCCACAC‑CGTGTGCACCCGTCCACGGCGCACCGTTCATCCACACTGCGAACCCCATCCCCGTACCGAGATa > 1:303226/1‑149 (MQ=255) gCACCCAGGATTGCCACACGCGCATTGTTGGGTCATATCTCCCAGGGGGATATGACCCAGTTCGCCTGCCACAC‑CGTGTGCACCCGTCCACGGCGCACCGTTCATCCACACTGCGAACCCCATCCCCGTACCGAGATAGGCCGCCAGaa < 2:162186/149‑1 (MQ=255) gcgcAGTGTTGGGTCATATCTCCCAGGGGGATATGACCCAGTTCGCCTGCCACAC‑CGTGTGCACCCGTCCACGGCGCACCGTTCATCCACACTGCGAACCCCATCCCCGTACCGAGATAGGCCGCCAGAACCAGTTGTTGCGTAAGGcc > 1:200927/1‑148 (MQ=255) gTCATATCCCCCTGGGAGATATGACCCAGTTCGCCTGCCACAC‑CGTGTGCACCCGTCCACGGCGCACCGTTCATCCACACTGCGAACCCCATCCCCGTACCGAGATAGGCCGCCAGAACCAGTTGTTGCGTAAGGCGGTTTTCtactac > 1:105504/1‑149 (MQ=255) tgacccGGGGGAACATGACCCAGTTCGCCCGCCCCGCGCGGGT‑CACCCGTCCACGGCGCACCGTCCACCCACACTACGAACCTCACCCCCGTACCGAGATAGCCCGCCAGAACCAGTTGTTGCGTAAGGCGGTTTTCTACTACGTCCCa < 2:326972/146‑1 (MQ=255) ctcCCAGGGGGATATGACCCAGTTCGCCTGCCACAC‑CGTGTGCACCCGTCCACGGCGCACCGTTCATCCACACTGCGAACCCCATCCCCGTACCGAGATAGGCCGCCAGAACCAGTTGTTGCGTAAGGCGGTTTTCTACTACGTCCCAg < 1:246610/149‑1 (MQ=255) ccAGGGGGATATGACCCAGTTCGCCTGCCACAC‑CGTGTGCACCCGTCCACGGCGCACCGTTCATCCACACTGCGAACCCCATCCCCGTACCGAGATAGGCCGCCAGAACCAGTTGTTGCGTAAGGCGGCTTTCTACTACGTCCCAGgac > 2:394547/1‑148 (MQ=255) | GAAAGGGGCGTTTTCCGCATGGACGAAAAGATCGCGCAATGGGTAATTTCGGGGCTGTTGTTCGTACCAGCGTCTTAGCGCCATTCCAGAGCAATTGGTTTCCAGGCACCCAGGATTGCCACACGCGCAGTGTTGGGTCATATCTCCCAGGGGGATATGACCCAGTTCGCCTGCCACAC‑CGTGTGCACCCGTCCACGGCGCACCGTTCATCCACACTGCGAACCCCATCCCCGTACCGAGATAGGCCGCCAGAACCAGTTGTTGCGTAAGGCGGTTTTCTACTACGTCCCAGGAG > NC_000913_3_hsa_tpiA/4307128‑4307422 |
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 < 32 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |