| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | NC_000913_3_hsa_tpiA | 4,296,362:1 | +CG | 100% | intergenic (+586/+56) | gltP → / ← yjcO | glutamate/aspartate:proton symporter/Sel1 family TPR‑like repeat protein |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | NC_000913_3_hsa_tpiA | 4,296,362 | 1 | . | C | 92.2% | 119.1 / 4.2 | 51 | intergenic (+586/+56) | gltP/yjcO | glutamate/aspartate:proton symporter/Sel1 family TPR‑like repeat protein |
| Reads supporting (aligned to +/- strand): ref base . (1/3); new base C (16/30); total (18/33) | |||||||||||
| 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 | |||||||||||
| Rejected as polymorphism: Variant not supported by required number of reads on each strand. | |||||||||||
| * | NC_000913_3_hsa_tpiA | 4,296,362 | 2 | . | G | 92.2% | 119.3 / 4.1 | 51 | intergenic (+586/+56) | gltP/yjcO | glutamate/aspartate:proton symporter/Sel1 family TPR‑like repeat protein |
| Reads supporting (aligned to +/- strand): ref base . (1/3); new base G (17/30); total (18/33) | |||||||||||
| 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 | |||||||||||
| Rejected as polymorphism: Variant not supported by required number of reads on each strand. | |||||||||||
TGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACA‑GCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTA‑‑C‑‑CGCATCCGACAT‑‑CAATGCCTG‑ATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAACCAGTGCAGCGCCT > NC_000913_3_hsa_tpiA/4296272‑4296500 || tGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACA‑GCGCAATAGCCTGATTTAGCGTGATTTCGTAAGTCGGATCATCGGTTTATGT‑‑CGCAGCCGACTT‑‑CAATGCCTG‑ATGCGGCGCTTGCCGCGTCTTATCAGGCCTATCt > 2:299998/1‑149 (MQ=11) cGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACA‑GCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACAT‑‑CAATGCCTG‑ATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAAcc > 1:803120/1‑149 (MQ=9) cGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACA‑GCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACAT‑‑CAATGCCTG‑ATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAAcc > 2:405965/1‑149 (MQ=2) gACGCTTAACGCGTCTTATCAGGCCTACGCCAGACA‑GCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACAT‑‑CAATGCCTG‑ATGCGACGCTTGCCGCGTCTTATGAGGCCTATCTTAACCg > 1:179581/1‑149 (MQ=255) gACGCTTAACGCGTCTTATCAGGCCTAC‑CCAGAGATTGGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACAT‑‑CAATGCCTG‑ATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCg > 2:601162/1‑149 (MQ=11) cGCTTAACGCGTCTTATCAGGCCTACGCCAGACA‑GCCCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACAT‑‑CAATGTCTC‑ATGCGACGCTTGCCGCGTATTATCAGGCCTATCTTAACCGtt < 1:664828/149‑1 (MQ=11) gCTTAACGCGTCTTATCAGGCCTACGCCAGACA‑GCGCAATAGCCTGATTTAGCGTGCTTTTGTAGGTCGGAGTAGGCGGTTA‑‑‑‑‑CGCATAAGCATTGACCGTGGCTGTATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTACCCTTTg > 2:808516/1‑149 (MQ=2) gCTTAACGCGTCTTATCAGGCCTACGCCAGACA‑GCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACAT‑‑CAATGCCTG‑ATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTg > 1:548879/1‑149 (MQ=255) gCTTAACGCGTCTTATCAGGCCTACGCCAGACA‑GCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACAT‑‑CAATGCCTC‑ATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTg > 2:742968/1‑149 (MQ=255) gCTTAACGCGTCTTATCAGGCCTACGCCAGACA‑GCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTA‑‑CGACGCATCCGACAT‑‑CAATGCCTG‑ATGCGACGCTTGCCGCGTATTATCAGGCCTATCTTAACCGTTg < 1:383841/149‑1 (MQ=255) catAACGCGGCTTATCAGGCCTACGCCAGACA‑GCGCAATAGCATGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACAT‑‑CAATGCCTG‑ATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTgg < 2:306847/147‑1 (MQ=11) gcgTCTTATCAGGCCTACGCCAGACA‑GCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACAT‑‑CAATGCCTG‑ATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAAtt > 1:297878/1‑149 (MQ=255) cgTCTTATCAGGCCTACGCCCGACA‑GCGCATTAGCCTGATTTTGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CCCATCCGACAT‑‑CAATGCCTG‑ATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAAttt < 1:73694/149‑1 (MQ=14) cgTCTTATCAGGCCTACGCCAGACA‑GCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCACCCGAGAT‑‑CAAGGCCTG‑ATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAAttt < 1:73868/149‑1 (MQ=11) gttAGCAGGCGTACGGCAGAGG‑GGGCAATGGTCTGACTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACAT‑‑CAATGCCTG‑ATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTc < 2:258878/148‑1 (MQ=14) cTTATCAGGCTTACGCCAGACA‑GCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACAT‑‑CAATGCCTG‑ATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTACCCGTTGGTTAATTTTTc < 2:570001/149‑1 (MQ=14) cTTATCAGGCCTACGCCAGACA‑GCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACAT‑‑CAATGCCTG‑ATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTc < 1:380170/149‑1 (MQ=255) tCAGGCCTACGCCAGACA‑GCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACAT‑‑CAATGCCTG‑ATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTACCCGTTGGTTAATTTTTCaacc > 1:307389/1‑147 (MQ=14) aGGCCTGCTCCACAGA‑GCTCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACAT‑‑CAATGCCTG‑ATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAActc < 1:413870/149‑1 (MQ=14) gCCTACGCCAGACA‑GCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACAT‑‑CAATGCCTG‑ATGCGCCGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAGTTTTTCAAACTCtt > 2:819782/1‑149 (MQ=14) cTACGCCAGACA‑GCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACAT‑‑CAATGCCTG‑ATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTca < 1:169215/149‑1 (MQ=255) aCGCCAGACA‑GCGCAAGAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACAT‑‑CAATGCCTG‑ATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTcaca < 2:581391/149‑1 (MQ=255) gACA‑GCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGCATAAGGCGTTTACGC‑‑CGCATCCGACAT‑‑CAATGCCTG‑ATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGt < 1:259700/149‑1 (MQ=255) aagcggcAATAGGCTGGTTTAGCGTGATTTTGTAGGTCGGAGAAGGCGTTTACGC‑‑CGCATCCGACAT‑‑CAATGCCTG‑ATGCGACGCTTGCCGCGTCTTATTAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTa < 1:196710/144‑1 (MQ=18) gcAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACAT‑‑CAATGCCTG‑ATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCaaa < 1:513694/149‑1 (MQ=255) gcAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACAT‑‑CAATGCCTG‑ATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCaaa < 1:573428/149‑1 (MQ=255) gcAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACAT‑‑CAATGCCTG‑ATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCaaa < 1:173804/149‑1 (MQ=255) aaTAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACAT‑‑CAATGCCTG‑ATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAAcc < 1:405965/149‑1 (MQ=255) aaTAGCCTGATTTAAGCTGATTTTGTAGGTCGGACAAGGCGTTTA‑‑CGGCGCATCCGACAT‑‑CAATGCCTG‑ATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGATGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAAcc < 2:569577/149‑1 (MQ=18) taccatGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACAT‑‑CAATGCCTG‑ATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCt < 2:580867/144‑1 (MQ=18) aGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACAT‑‑CAATGCCTG‑ATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCtt < 1:143233/149‑1 (MQ=255) gCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGGGTTTACGC‑‑CGCATCCGACAT‑‑CAATGCCTG‑ATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTc < 2:368944/149‑1 (MQ=255) gATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACAT‑‑CAACGCCTG‑ATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATa < 2:271675/149‑1 (MQ=255) gtgTGATTTTGTATGTCAGATAAGGCGTTTA‑‑CGTCGCATCCGACAT‑‑CAATGCCTG‑ATGCGACGCTTGCCGCGTCTTATCAGGTCTATCTTAACCGTTGGTTAATTTTTCAAACGCTTCACACCCGGTATCAAACCCTTCCATACAGCTc < 1:204783/147‑1 (MQ=25) gCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACAT‑‑CAATGCCTG‑ATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTc < 1:170227/149‑1 (MQ=255) cGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACAT‑‑CAATGCCTG‑ATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCATACTCTTCACACCCGGTATCGAGCCCTTCCATACAGTTCa > 1:132650/1‑149 (MQ=21) gagtttGTAGGTCGGATAAGGCGTTGACGC‑‑CGCATCCGACAT‑‑CAATGCCTG‑ATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCTCACCCGGTTGCAAACCCTTCCATACAGCTCAGGt < 2:180678/146‑1 (MQ=21) gATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACAT‑‑CAATGCCTG‑ATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGt < 1:604881/149‑1 (MQ=255) ttttGTAGGTCGGATAAGGCGTTGACGC‑‑CGCGTCCGACAT‑‑CAATGCCTG‑ATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTc < 2:696765/149‑1 (MQ=25) tGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACAT‑‑CAATGCCTG‑ATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAAc < 1:100746/149‑1 (MQ=255) tGTAGGTCGGATAAGGCGTTTACGC‑‑CGCAGGCGACAT‑‑CAAGGCCTG‑ATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAAc < 2:381042/149‑1 (MQ=25) gacGGATAAGGCGTTTACGC‑‑CGCATCCGACAT‑‑CAATGCCTG‑ATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACACCTCAGGTTCAACCAGTg > 2:236811/3‑149 (MQ=25) gTCGGATAAGGCGTTTACGC‑‑CGCATCCGACAT‑‑CAATGCCTG‑ATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACCCCCGGAATCACACCCTTCCCTCCAGATCATGTTCAACCCGTg > 2:402830/1‑149 (MQ=21) gTCGGATAAGGCGTTTACGC‑‑CGCATCCGACAT‑‑CAATGCCTG‑ATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAACCCGTg > 2:218351/1‑149 (MQ=255) gTCGGATAAGGCGTTTACGC‑‑CGCATCCGACAT‑‑CAATGCCTG‑ATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAACCAGTg > 1:438147/1‑149 (MQ=255) cgaaTAAGGCGTTTACGC‑‑CGCATCTGACAC‑‑CAACGCTTT‑ATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCTGGTTCAACCAGTggt < 2:380998/146‑3 (MQ=25) cGGATCAGGCGTTTACGC‑‑CGCGTCCGACAT‑‑CAATTCCTG‑ACGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAACCAGTGCa < 2:440203/149‑1 (MQ=37) aTAAGGCGTTTACGC‑‑CGCATCCGACAT‑‑CAATGCCTG‑ATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAACCAGTGCAgcg > 1:346251/1‑149 (MQ=255) aaGGCGTTTACGC‑‑CGCATCCGACAT‑‑CAATGCCTG‑ATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAACCAGTGCAGCGcc < 1:520353/149‑1 (MQ=255) aaGGCGTTTACGC‑‑CGCATCCGACAT‑‑CAATGCCTG‑ATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAACCAGTGCAGCGcc < 1:520346/149‑1 (MQ=255) aGGCGTTTACGC‑‑CGCATCCGACAT‑‑CAATGCCTG‑ATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACCGCTCAGGTTCAACCAATGCataccct > 1:13289/1‑143 (MQ=25) || TGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACA‑GCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTA‑‑C‑‑CGCATCCGACAT‑‑CAATGCCTG‑ATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAACCAGTGCAGCGCCT > NC_000913_3_hsa_tpiA/4296272‑4296500 |
| Alignment Legend |
|---|
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: ‑ |