| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | NC_000913_3_hsa_tpiA | 4,296,042 | C→T | 16.6% | intergenic (+266/+376) | 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 | 4,296,042 | 0 | C | T | 16.6% | 88.0 / 11.4 | 58 | intergenic (+266/+376) | gltP/yjcO | glutamate/aspartate:proton symporter/Sel1 family TPR‑like repeat protein |
| Reads supporting (aligned to +/- strand): ref base C (19/26); new base T (6/3); total (29/29) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 2.75e-01 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 8.88e-01 | |||||||||||
CGGATAAGGCGTTTATGCCGCATCCGACATCAACGCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTATGCCGCATCCGACATCAACGCCTGATGCGACGCTTAACGCGTCTTATCA > NC_000913_3_hsa_tpiA/4295896‑4296185 | cGGCTAAGGCGTTTATGCCGCATCCTGCATCAACGCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAACGc < 2:531031/149‑1 (MQ=12) aaGGCGTTTATGCCGCATCCGACATCAACGCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAACGCCTGAt < 1:114150/149‑1 (MQ=32) aGGCGTTTATGCCGCATCCGACATCAACGCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCCGACAGCGCAATAGCCTGCTTTAGCGTGGTTTTGTAAGTCGGCTAAGGCGTTTACGCCGCCTCCGACACCAATCCCTGAtc > 2:20243/1‑148 (MQ=11) ggCGTTTATGCCGCATCCGACATCAACGCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAACGTGATTTTGTAGTGCGTATAAGTCGTTAACGCCGCATCCGACATCAAAGCCTGATGc > 2:269938/1‑149 (MQ=11) gCGTTTATGCCGCATCCGACATCAACGCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATCAGGCGTTTACGCCGCATCCGACATCAACGCCTGATGCg > 1:201987/1‑149 (MQ=17) gCGTTTATGCCGCATCCGACATCAACGCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAAGCGTTTACGCCGCATCCGACATCAACGCCTGATGCg > 1:490061/1‑149 (MQ=17) cGTTTATGCCGCATCCGACATCAACGCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAACGCCTGATGCGa < 1:326787/149‑1 (MQ=32) cGTTTATGCCGCATCCGACATCAACGCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGACACGGCGATTACGCCGCAACCGACATCGATGCCTGATTCGa > 1:602487/1‑149 (MQ=11) ttttAGGCCGCAGTAGACATCTACGCCTGATGGGACGCTTAACTGGTTTTATCAGGCCTACGCCAGACAGCGCAATAGCCCGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAACGCCTGATGCGAc < 2:43396/148‑1 (MQ=11) gTTTATGCCGCATCCGACATCAACGCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGCTAAGGCGTTTACGCCGCATCCGACATCCAGGCCTGATGCGAc > 1:40545/1‑149 (MQ=12) tttATGCCGCATCCGACATCAACGCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACCTCAAGGCCTGATGCGACg > 1:138661/1‑149 (MQ=17) ccGCATCCGACATCAACGCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGcc > 1:174846/1‑149 (MQ=21) ccGCATCCGACATCAACGCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGcc > 1:359266/1‑149 (MQ=21) ccGCATCCGACATCAACGCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGcc > 1:276979/1‑149 (MQ=25) ccGCATCCGACATCAACGCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAACGCCTGCTGCGACGCTTGcc > 2:246946/1‑149 (MQ=21) cGCATCCGACATCAACGCCGTATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTCATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCcg < 1:353345/149‑1 (MQ=255) gtccggtaTCAACGCCTGATGCGACGCTCAACGCGTCTTAACAGGCCTACGCCAGCCAGCGCAATAGCCTGATTTCGCGTGATTTTGTAGGTCGGATAAGGCGTTTCCGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGt < 2:86818/142‑1 (MQ=11) aTCCGACATCAACGCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAACGCCTGATGc > 1:61254/1‑135 (MQ=33) aTCCGACATCAACGCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAACGCCTGATGc < 2:61254/135‑1 (MQ=33) gACATCAACGCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCAGACATCCACCCCTGATCCGACCGTTGCGGCGTCttc > 2:219639/1‑148 (MQ=11) aTCAACGCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCa > 2:560832/1‑149 (MQ=25) aaCGCCTTATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTATCAGGc < 2:599367/149‑1 (MQ=38) aaCGCCGGATGCGAGGCTTACCGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGTTAAGGCGTTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTATCAGGc < 2:46136/149‑1 (MQ=255) gCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTa < 1:582236/149‑1 (MQ=21) ccTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGCTTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGCCATCAACGCCTGATGCGACGCTTGCCGCGTCTTATCGGGCCTAc > 1:300663/1‑149 (MQ=255) cTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTatc < 1:332811/149‑3 (MQ=17) gagACGATTAACGTGTGTTCTCAGGGTTACGTGCGAGAGCGAAATAGCCTGATTGAGGGTGATTTTGTGGGTCGGGTAGGGGGTTTACGCCGCGTCCGGCGTCAACGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTACGCCAGa < 2:48220/147‑1 (MQ=2) gCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGCCTTATCAGGCCTACGCCAGa < 1:379824/149‑1 (MQ=255) cGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATGccctgc > 2:17641/1‑145 (MQ=255) ttAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATACCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTAAGCCGCATCCGACCTCAAGGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCCACGCCAGACacctct > 2:311689/1‑144 (MQ=11) ttccgcgTTTTCTCAGGCCCACGCAGGACAGGGCAATAGCTTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCTCTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTACGCCAGACAGCGCaa < 1:207281/146‑1 (MQ=11) ccgcgTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTATGCCGCATGCGACATCGACGCCTGATGCGACGCTTGCAGCGTCTTATCAGGCCTACGCCAGACAGCGCAATa > 1:587861/2‑149 (MQ=255) tCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAg < 1:163939/122‑1 (MQ=25) tCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTATCAg > 2:163939/1‑122 (MQ=38) tCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTg > 1:573156/1‑149 (MQ=39) cTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCATACGCCAGACAGCGCAATAGCCTGa > 1:649237/1‑149 (MQ=255) aTCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGAttt < 1:68129/149‑1 (MQ=39) cAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGACGGATAAGGCGTTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTACGCCAGACGTCGCAATAGCCTTAAGTAGCGTCATTTTGt > 1:476249/1‑149 (MQ=11) agaggtagcAGTAGTCTGATTTGGCGTGATTTTGTAGGTCGCATAAGGCGTTTACGCCGCATCCGCCATCAACGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTa < 2:614191/142‑1 (MQ=11) aGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTa < 1:370052/149‑1 (MQ=38) tAGCGTGATTTTGTAGGTCGGATAAGGCGCTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTATGc < 1:379524/149‑1 (MQ=255) tGATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTACGCCAGACAGCGCAGTAGCCTGATTTAGCGTGATTTTGTAAGTCGGATAGGGCTTTTATGCCGCAt > 2:332811/1‑149 (MQ=255) tGATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTATGCCGCAt > 2:378739/1‑149 (MQ=38) tttGTAGGTCGGATAGGGCGTTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGa < 1:403466/149‑1 (MQ=25) gTAGGTCGGAGAAGGCGTTTACGCCTCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTATGCCGCATCCGACAt < 1:101564/149‑1 (MQ=255) gTCGGATAAGGCGTTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTATGCCGCATCCGACATCAAc > 1:489947/1‑149 (MQ=38) tCGGATAAGGCGTTTACGCCCCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTATGCCGCCTCCGACATCatag > 2:539121/1‑146 (MQ=255) ggATCAGGCGTTTCCGCCGCACCCCACATCAACGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTATGCCGCATCCGACATCAACGcc < 1:559851/149‑1 (MQ=255) caGGCGTTACCGCCGCACACGCCACCAACGCCGGACGCGACGCCTGCCGCTTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGGTTACGCCGCATCCGACATCAACGCCTGAt < 2:343463/148‑1 (MQ=11) aaGGCGTTTACGCCCCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCTTACGCCAGACAGCGAAAAAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGGTTATGCCGCATCCGACATCAACGCCTGAt < 1:184219/149‑1 (MQ=11) ggCGTTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTACGCCCGCCAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGCTAAGGCGGGTATGCCGCATCCCACATGAACGCCTGagcc > 1:275785/1‑146 (MQ=14) cgcgccGGCATCAACGCCTGATGCGACGCTTGCCGCGGCTTATCAGGCCTACGCCAGACAGCGCAATAGCCGGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTATGCCGCATCCGACATCAGCGCTTGATGCGACGCTTAAcgc < 2:538741/145‑1 (MQ=11) gacctgtaTCAGCGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTACGCCAAACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGAGAAGGCGTTTATGCCGCATCCGACATCAACGCCTGATGCGACGCTTAACGCGt < 2:500083/142‑1 (MQ=11) acccGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTATGCCGCATCCGACATCAACGCCTGATGCGACGCTTAACGCGt < 1:297750/147‑1 (MQ=25) tCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTATGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTc > 2:120932/1‑149 (MQ=18) attaaCGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTATGCCGCATCCGACATCAACGCCTGATGCGACGCTTAACGCGTCTTATCa < 1:411044/146‑1 (MQ=17) aTCCACGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTACGCCAGCGAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTATGCCGCATCCGACATCAACGCCTGATGCGACGCTTAACGCGTCTTATCa < 1:300505/149‑1 (MQ=12) aTCAACGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTACGCCAGACAGCGCAATATCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTATGCCGCATCCGACATCAACGCCCTTTGCGACGCTTAACGCGTCTTATCa > 1:127302/1‑149 (MQ=255) | CGGATAAGGCGTTTATGCCGCATCCGACATCAACGCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTATGCCGCATCCGACATCAACGCCTGATGCGACGCTTAACGCGTCTTATCA > NC_000913_3_hsa_tpiA/4295896‑4296185 |
| Alignment Legend |
|---|
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: ‑ |