| 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 | 23.6% | 74.9 / 28.6 | 55 | intergenic (+266/+376) | gltP/yjcO | glutamate/aspartate:proton symporter/Sel1 family TPR‑like repeat protein |
| Reads supporting (aligned to +/- strand): ref base C (17/25); new base T (5/8); total (22/33) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 6.60e-02 | |||||||||||
| Rejected as consensus: Frequency below/above cutoff threshold. | |||||||||||
CGGATAAGGCGTTTATGCCGCATCCGACATCAACGCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTG‑ATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTATGCCGCATCCGACATCAACGCCTGATGCGACGCTTAACGCGT > NC_000913_3_hsa_tpiA/4295896‑4296178 | gagATAAGGCATGTATGCCGCCACCGACCTCAACGCCTGATGAGACGCTTAACCCGACTTATCATGCCTACGCCAGATAGCGCAATAGCCTGATTTAGCGTG‑ATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAACGc < 2:24517/147‑1 (MQ=11) aGGCGTTTATGCCGCATCCGACATCAACGCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTG‑ATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAACGCCTGATg > 1:310148/1‑149 (MQ=32) tttATGCCGCATCCGACATCAACGCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTG‑ATTTTGTAGGTCGGATAAGGCGTTTACGCGGCATCCGACGTTTACGCCTGATgggtgg > 1:320991/1‑144 (MQ=11) ccGCATCCGACATCAACGCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTG‑ATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAACGCCTGATGCGACGCttctc > 2:504413/1‑146 (MQ=17) ccGCATCCGACATCAACCCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATGACCTGATCTAGCGTG‑CTTTTGTAGGTCGTATAAGGCGTTTACGCCGTACTCGACACCCACGCATGCTGCGACGCTTGct > 1:509941/1‑148 (MQ=11) cGCATCCGACAACCACGCCTGATGCGACGCTTACCGCGCCTTATCAGGCCTACGCCAGACAGCGCAATATCCGGATTTACCGTG‑CTTTTGTAGGTCGGATAAGGCGGTTACCCCGCCTCCGACATCAACGCCTGATGCGACgtctcccg > 2:594983/1‑142 (MQ=11) aTCCGACATCAACGCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTG‑ATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGt < 1:36857/149‑1 (MQ=38) ccGACATCAACGCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTG‑ATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCt < 1:201147/149‑1 (MQ=38) cATCAACGCCTGATGCGACGCTTACCGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTG‑ATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTATc < 1:584467/149‑1 (MQ=255) aTCAACGCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTG‑ATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCa < 1:504413/149‑1 (MQ=21) tCAACGCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTG‑ATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGTTTTATGCACCTGATGCGACGCTTGCCGCGTCTTATCAg < 1:664296/149‑1 (MQ=14) tCAACGCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTG‑ATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAg > 2:547439/1‑149 (MQ=21) tCAACGCCTGATGCGACACTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTG‑ATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAg > 1:436394/1‑149 (MQ=19) cAACGCCTGATGCGACGCTTGACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTG‑ATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAgg < 1:149214/149‑1 (MQ=21) aaCGCCTTATGCGACGATTAGTGCGTCTTATGAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTG‑ATTGTGTAGGTCGGATAAGGCGTTTACGCCGCATCAGACATCAACGCCTGATGCGCCGCTTGCTGCGTCTTATCAGGc < 2:162000/149‑1 (MQ=11) aaCGCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTG‑ATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTc < 1:16912/140‑1 (MQ=40) aaCGCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTG‑ATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTc > 2:16912/1‑140 (MQ=38) aCGCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTG‑ATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTATCAGGcc < 2:657694/149‑1 (MQ=38) gCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTG‑ATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTa < 1:369061/149‑1 (MQ=21) ccTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTG‑ATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAATGCCTGATGCGa < 1:238143/123‑1 (MQ=17) ccTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTG‑ATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAATGCCTGATGCGa > 2:238143/1‑123 (MQ=17) ccTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTG‑ATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTAc < 2:639911/149‑1 (MQ=39) cTGATGCGACGCTTCCCGCGTCTTATCACGCCTACGCCAGACCGCGAAATAGCCTGATTTAGCGTG‑ATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTatc < 1:477142/149‑3 (MQ=11) cTGATGCGACGCTTAACGTGTCTTATCAGGCCTACGCCAGACAGCGCTATAGCCTGATTTAGCGTG‑ATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTatc < 1:650404/149‑3 (MQ=255) gATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTG‑ATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTa > 1:358765/1‑145 (MQ=37) gATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTG‑ATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTa < 2:358765/145‑1 (MQ=39) gCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTG‑ATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAACGCCTGATGGGACGCTTGCCGCGTCTTATAAGGCCTACGCCAGCCAgcg > 1:347249/1‑149 (MQ=255) gCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTG‑ATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTACGCCAGACGgcg > 1:172028/1‑149 (MQ=255) gcgTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTG‑ATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTAcc > 1:357558/1‑113 (MQ=14) gcgTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTG‑ATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATACGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGc < 2:279723/149‑1 (MQ=255) tATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTG‑ATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGAtt < 1:158089/149‑1 (MQ=39) tCAGGCCTATGCCAGACGGCGCAGTAGCCTGATTTAGCTCGAATTTTGT‑GGTCGGATCAGGCGTATACGCCGCATGCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTa < 2:386464/149‑1 (MQ=11) cAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTG‑ATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGc < 2:196013/118‑1 (MQ=25) cAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTG‑ATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGc > 1:196013/1‑118 (MQ=37) gCCGGACAGCGCAATAGCCTGATTTAGCGTG‑ATTTTGTAGGTCGGATGAGGCGTTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTACCCCAAACGGCGCTATAGCTTGATTAATCTTGAttgt > 2:110407/1‑147 (MQ=11) cAGACAGCGCAATAGCCTGATTTAGCGTG‑ATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGt > 1:421701/1‑149 (MQ=39) aGACAGCGAAATAGCCTGATTTCGGGTG‑ATTTTGTAGGGTGGATAAGGGGTTTACGCCGCATCCGATATCAACGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTa < 2:324284/149‑1 (MQ=11) aCAGCGCAATAGCCTGATTTAGCGTG‑ATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTatc < 1:365729/109‑3 (MQ=16) aCAGCGCAATAGCCTGATTTAGCGTG‑ATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTatc > 2:365729/1‑107 (MQ=16) gaGCGAAATAGCCTAATTTAGCGTG‑ATTTTGTAGGGAGGATAAGGGGTTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGt < 2:376488/148‑1 (MQ=11) cgcAATAGCCTGATTTAGCGTG‑ATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCgg > 2:256398/1‑149 (MQ=39) aaTAGCCTGATTTAGCGTG‑ATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTg < 1:353390/81‑1 (MQ=37) ccTGATTTAGCGTG‑ATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGCTTTCGCGTGATTTTGTAGGTCGGATAAGTCg > 2:540239/1‑149 (MQ=255) ccTGATTGAGCGTG‑AATTTGTAGGTCGGATAGGGCGTGTACGCCGCATCCGGCGTCAACGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCg < 2:391375/149‑1 (MQ=11) cgCGTG‑AATTGGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTATGcc < 1:163224/148‑1 (MQ=255) aTTTTGTAGGTCGGATAAGGCGTTTATGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGt < 2:360179/124‑1 (MQ=17) gTCGGATAAGGCGTTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTATGCCGCATCCGACATCAAc > 1:541098/1‑149 (MQ=39) gATAAGGCGTTTATGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCCTTTATGCCGCATCCGACATCAGCGCCt < 1:652279/149‑1 (MQ=12) caaGCCGTTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTAATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGCGATTTTGTAGGTCGGATAAGGCGTTTATGCCGCATCCGACATCAACGCCTGa < 2:320991/148‑1 (MQ=255) gCGTTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTATGCCGCATCCGACATCAATGCCTGATGCg > 2:369061/1‑149 (MQ=38) catttCCGCCGCATCAGGCGTCAACGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTCTGGCGGATCCGACATCAACGCCTGATGCGa < 2:648822/147‑1 (MQ=11) cgcATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTACGCCAGACAGCGCAATa < 2:3504/69‑1 (MQ=255) aTCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGt < 2:270595/80‑1 (MQ=255) aTCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGt > 1:270595/1‑80 (MQ=255) aTCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTATGCCGCATCCGACATCAACGCCTGATGCGACGCTTAACGCGt < 1:579999/149‑1 (MQ=35) cGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGa > 1:163396/1‑70 (MQ=31) | CGGATAAGGCGTTTATGCCGCATCCGACATCAACGCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTG‑ATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTATGCCGCATCCGACATCAACGCCTGATGCGACGCTTAACGCGT > NC_000913_3_hsa_tpiA/4295896‑4296178 |
| Alignment Legend |
|---|
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: ‑ |