Predicted mutation | ||||||
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evidence | seq id | position | mutation | annotation | gene | description |
RA | NC_000913_3_hsa_tpiA | 4,111,482 | G→T | intergenic (+797/+115) | cdh → / ← yiiQ | CDP‑diacylglycerol phosphotidylhydrolase/DUF1454 family putative periplasmic 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_tpiA | 4,111,482 | 0 | G | T | 98.0% | 153.9 / NA | 49 | intergenic (+797/+115) | cdh/yiiQ | CDP‑diacylglycerol phosphotidylhydrolase/DUF1454 family putative periplasmic protein |
Reads supporting (aligned to +/- strand): ref base G (0/1); new base T (21/27); total (21/28) | |||||||||||
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 |
GTCGATATAGGCAGTAGGGGGAGCACAAACCACCTCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGA > NC_000913_3_hsa_tpiA/4111340‑4111620 | gTCGATATAGGCAGTAGGGGGAGCACACACCCCCTCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCa < 1:406036/149‑1 (MQ=255) gATATAGGCAGTAGGGGGAGCACAAACCACCTCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGCGTGCGCCAttt > 2:96588/1‑149 (MQ=255) gATAAAGGCAGTAGGGGGAGCAAAAACCAACTCCGTGTCGGCCGGCACCTCGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCAttt < 1:178447/149‑1 (MQ=255) ggCAGTAGGGGGAGCACAAACCACCTCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATtc < 2:438691/149‑1 (MQ=255) aggaGGGGGAGCACAAACCACCTCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTcc < 2:558680/146‑1 (MQ=255) gAGCACATACCACCTCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGACGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTtat < 2:604831/149‑1 (MQ=255) accaccTCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAAt > 1:588091/1‑149 (MQ=255) caccTCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATaa > 1:810768/1‑149 (MQ=255) caccTCGGCGTCGGCCGGCCCCGTGTCCGCGTTCAGAGTTCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATaa > 2:810626/1‑149 (MQ=255) accTCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATaaa < 1:455530/149‑1 (MQ=255) ccTCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAg < 1:290411/149‑1 (MQ=255) gtCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATg < 1:888088/149‑1 (MQ=255) ctCGGGCGGCACCTGGGCCGCGTTCAGAGTGCCGATGAGCGCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTCATCGCAACTAAGAGCTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATg < 1:429799/148‑1 (MQ=255) tCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATgg < 1:253007/149‑1 (MQ=255) tGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAggg < 2:54448/149‑1 (MQ=255) tGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCGTATCAGCGAATAAAGGAAGATGGCCGCCCCGCAggg < 2:497059/149‑1 (MQ=255) cgcgTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGgcagc > 1:722149/1‑149 (MQ=255) cgcgTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGgcagc > 1:419538/1‑149 (MQ=255) cgTTCAGAGTGCCGATGAGCTCCACCAGACTCTGCTTCCGCACGTTCATATGTTTGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGcagcag < 2:639746/149‑1 (MQ=255) agagTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCtg > 1:381312/1‑149 (MQ=255) gagTGCCGATGAGCTCCCCCAGACTCTGCTCCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTGATTTTCCACGCTTGTACGCTGATAAAGGGGGATGGCCTCCCCGTAGGGCAGCAGGTCtgt < 2:438277/149‑1 (MQ=255) cGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACa > 1:279157/1‑149 (MQ=255) aTGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGt > 1:108578/1‑149 (MQ=255) aTGAGCCCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGt < 2:877960/149‑1 (MQ=255) tCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAACCAGTATagag > 2:392703/1‑149 (MQ=255) agcctctGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCAt < 2:543017/146‑1 (MQ=255) aGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCAt < 2:279157/149‑1 (MQ=255) gACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATc < 2:419538/149‑1 (MQ=255) tctGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGc > 1:960407/1‑149 (MQ=255) ttCCGCCCGTTCATCTTCCAGCTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGACCTTCCTCGACAGaat < 2:498329/149‑2 (MQ=255) gTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGc < 2:209363/63‑1 (MQ=255) gTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGc > 1:209363/1‑63 (MQ=255) cATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGGATAGAGATTCATCGGCACAAAGgctttgcttt > 1:61641/1‑149 (MQ=255) tCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCttttt < 2:525099/149‑1 (MQ=255) tCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGAAGGTCTGTGCAACAGTATAGCGATTCATCGGCACAAAGGCTTTGCttttt < 2:950003/149‑1 (MQ=255) ttCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCttttt < 1:571269/147‑1 (MQ=255) ttCCAGTTTCCCCCAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCttttt > 2:571269/1‑147 (MQ=255) tttCCCCCAACGAAGAACTTCCTGGCGTGCGCCATTTTACTTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTa > 2:142700/1‑149 (MQ=255) cccAACGAATAACTTCCTGGCGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCaa < 1:142700/149‑1 (MQ=255) cccAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCaa < 2:15854/149‑1 (MQ=255) ccAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAg < 1:741003/79‑1 (MQ=255) ccAACGAAGAACTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAg > 2:741003/1‑79 (MQ=255) ccAACGAAGAACTTCCTGGAGTGCGCCATCTTAATCCTCCACGCTTATAAGCGAATAAAGGAAGATAGCCGCCCCGCAGGGCAGCAGGTCTCTGAAACAGGATAGAGATTCATCGGCACAAAGGCCTTGCCTCTCGTCATTTATTCaac > 2:673804/1‑148 (MQ=255) ccAACGAAGAACTTCCTGGAGGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCaaa < 1:584500/149‑1 (MQ=255) gaagaaCTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGGCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTc < 2:588091/149‑1 (MQ=255) gaagaaCTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCGGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTc > 1:856779/1‑149 (MQ=255) aagaaCTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAAAAAAATTAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCa > 1:907755/1‑149 (MQ=255) cTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGa > 1:168694/1‑149 (MQ=255) cTTCCTGGAGTGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAAGCTTAGCTTTTTGTCATTTATTCAAACCTTCAAGCGa > 1:66548/1‑149 (MQ=255) | GTCGATATAGGCAGTAGGGGGAGCACAAACCACCTCGGTGTCGGCCGGCACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGA > NC_000913_3_hsa_tpiA/4111340‑4111620 |
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 < 32 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |