| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | NC_000913_3_hsa_tpiA | 3,946,711 | C→A | 15.6% | noncoding (12/120 nt) | rrfC → | 5S ribosomal RNA of rrnC operon |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | NC_000913_3_hsa_tpiA | 3,946,711 | 0 | C | A | 15.6% | 66.4 / 4.8 | 42 | noncoding (12/120 nt) | rrfC | 5S ribosomal RNA of rrnC operon |
| Reads supporting (aligned to +/- strand): ref base C (16/19); new base A (5/2); total (21/21) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 4.10e-01 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.00e+00 | |||||||||||
CTAACCGGTACTAATGAACCGTGAGGCTTAACCTTACAACGCCGAAGATGTTTTGGCGGATGAGAGAAGATTTTCAGCCTGATACAGATTAAATCAGAACGCAGAAGCGGTCTGATGAAACAGAATTTGCCTGGCGGCCGTAGCGCGGTGGTCCCACCTGACCCCATGCCGAACTCAGAAGTGAAACGCCG‑TAGCGCCGATGGTAGTGTGGGGTCTCCCCATGCGAGAGTAGGGAACTGCCAGGCATCAAATTAAGCAGTA > NC_000913_3_hsa_tpiA/3946573‑3946833 | cTAACCGGTACTAATGAACCGTGAGGCTTAACCCTACAACGCCGAAGATGTTTTGGCTGATGAGAGAAGATTTTCAGCCTGATACAGATTAAATCAGAACGCAGAAGCGGTCTGATGAAACAGAATTTGCCTGGCGGCCGTAGCGCggt < 1:82948/149‑1 (MQ=25)atcaCCGGTGCTAAGGAACCGTGAGGCTTAACCTTACAACGCCGAAGATGTGTTGGCGGATGAGAGAAGATTTTCAGCCTGATACAGATTAAATCAGAACGCAGAAGCGGTCGGATGAAACAGAATTTGCCTGGCGGCAGTAGCGCggt < 2:90889/146‑1 (MQ=11) gggTACTAATGAACCGTGAGGCTTAACCTTACACCGCCGAAGATGTTCTGGCGGATGAGAGAAGATTTTCAGCCTGATACAGATTAAATCAGAACGTAGAAGCGGTCTGATGAAACAGAATTTGCCTGGCGGCCGTAGCGCGGTGGTcc < 2:5045/148‑1 (MQ=255) gTACTAATGAAGCGTGAGGCTTAACGTTACAACGCCGAAGATGTTTTGGCGGATGAGAGAAGATTTTCAGCCTGATACAGATTAAATCAGAACGCAGAAGCGGTCTGATGAAACAGAATTTGCCTGGCGGCCGTAGCGCGGTGGTCCCa < 2:349746/149‑1 (MQ=25) tACTAATGAACCGGGAGGCTTAACCTTACAACGCCGAAGATGTTTTGGCGGATGAGAGATGATTTTCAGCCTGATACAGATTAAATCAGAACGCAGAAGCGGTATAATTTTATACAATTTCCCTGGCGGCCGTAGCGCGGTGGTCCCAc < 2:567943/149‑1 (MQ=11) tAATGAACCGTGAGGCTTAACCTTACAACGCCGAAGATGGTTTGGCGGATGAGAGAAGCTTTTCAGCCTGATACAGATTAAATCAGAACGCAGAAGCAGTCTGAAGAAGAAGAATTTGCCTGGCGGCAGTAGGGAGGTGGTCCGACCTg > 2:198118/1‑149 (MQ=11) aaTGAAGCGTGAGTCTCAATCTGACAACGCCGACGATGTGTTGGCGGATTAGAGAGGATTTTCAGCCTGATACAGATTAAATCAGCACGCAGAATCGGTCTGATGAAACAGAATTCGCCTGGCGGCCGTAGCGCGGTGGTCCCACCTGa < 2:328305/149‑1 (MQ=11) aaTGAACCGTGAGGCTTAACCTTACAACGCCGAAGATGTTTTGGCGGATGAGAGAAGATTTTCAGCCTGATACAGATTAAATCAGAACGCAGAAGCGGTCTGATGAAACAGAATTTGCCTGGCGGCCGTAGCGCGGTGGTCCCACCTGa < 2:398132/149‑1 (MQ=35) aaTGAACCGTGAGGCGGAACCTTACAACGCCGAAGATGTTTTGGCGGATGAGAGAAGCTTTTCAGCCTGATACAGATTAAATCAGAACGCAGAAGCGGTCTGATGAAGCAGAATTTGCCTGGCGGCCGTAGCGCAGAGGTCACACCtaa > 2:551209/1‑147 (MQ=11) cGTGAGGCTTAACCTTACAACGCCGAAGATGATTTGGCGGAAGAGAAAAGATTTTCAGCCTGATACAGATTAAATCAGAACGCAGAAGCGGTCTGATGAAACAGAATTTGCGTGGCGACCGTAGCGCGGTGGCCCCACCTGACCCCATg > 2:514630/1‑149 (MQ=11) ggCTTAACCTTACAACGCCGAAGATGTTTTGGCGGATGAGAGAATATTTTCAGCCTGATACATATTAAATCAGAACGCTGTAGCGGTCTGATGACACATAATTTGCCTTGCGGCAGTGGCGCGGTGGTCTCACTTGTCCTCCTGcccac > 2:388637/1‑146 (MQ=11) ttAACCTTACAACGCCGAAGATGTTTTGGCGGATGAGAGAAGATTTTCAGCCTGATACAGATTAAATCAGAACGCAGAAGCGGTCTGATGAAACAGAATTTGCCTGGCGGCAGTAGCGCGGTGGTCCCACCTGACCCCATGCCGAACTc > 2:594072/1‑149 (MQ=17) ccTTACAACGCCGAAGATGTTTTGGCGGATGAGAGAAGATTTTCAGCCTGATACAGATTAAATCAGAACGCAGAAGCGGTCTGATGAAACAGAATTTGCCTGGCGGCAGTAGCGCGGAGGTCCCACCTGACCCCATGCCGAACTCCGaa > 1:191181/1‑149 (MQ=9) ttACAACGCCGAAGATGTTTTGGCGGATGAGAGAAGATTTTCAGCCTGATACAGATTAAATCAGAACGCAGAAGCGGTCTGATGAAACAGAATTTGCCTGGCGGCAGGAGCGCGGTGGTCCCACCTGACCCCATGCCGAACTCACAAGt > 2:431262/1‑149 (MQ=12) aCAACGCCGAAGATGTTTTGGCGGATGAGAGAAGATTTTCAGCCTGATACAGATTAAATCAGAACGCAGAAGCGGTCTGATGAAACAGAATTTGCCTGGCGGCCGTAGCGCGGTGGTCCCACCTGCCCCCATGCCGACCTCCGAAGTGa > 1:10162/1‑149 (MQ=255) aaCGCCGAAGATGTTTTGGCGGATGAGAGAAGATTTTCAGCCTGATACAGCTTCAATCAGAATGCTGAATCGGTCGGATGAAACAGAATTTGCCTGGCGGCCGTAGCGCGGTGGTCCCACCTGACCCCATGCCGAACTCAGAAGTGaaa > 2:70280/1‑149 (MQ=11) aaCGCCGAAGATGTTTTGGCGGATGAGAGAAGATTTTCAGCCTGATACAGATTAAATCAGAACGCAGAAGCGGTCTGATGAAACAGAATTTGCCTGGCGGCCGTAGCGCGGTGGTCCCACCTGACCCCATGCCGAACTCAGAAGTGaaa < 2:616591/149‑1 (MQ=34) gCCGAAGATGTTTTGGCGGATGAGAGAAGATTTTCAGCCTGATACAGATTAAATCAGAACGCAGAAGCGGTCTGATGAAACAGAATTTGCCTGGCGGCCGTAGCGCGGTGGTCCCACCTGACCCCATGCCGAACTCAGAAGTGAAACGc > 1:326170/1‑149 (MQ=35) ccGAAGATGTTTTGGCGGATGAGAGAAGATTTTCAGCCTGATACAGATTAAATCAGAACGCAGAAGCGGTCTGATGAAACAGAATTTGCCTGGCGGCCGTAGCGCGGTGGTCCACCCTGACCCCATGCCGACCTCAGAAGTGAAACGcc > 2:342061/1‑149 (MQ=255) aaGATGTTTTGGCGGATGAGAGAAGTTTTTCAGCCTGATACAGATTAAATCAGAACGCAGAAGCGGTCTGATGAAACAGAATTTGCCTGGCGGCCGTAGCGCGGTGGTCCCACCTGACCCCATGCCGAACTCAGAAGTGAAACGCCG‑Ta < 1:7278/149‑1 (MQ=21) aGATGTTTTGGCGGATGAGAGAAGATTTTCAGCCTGATACAGATTAAATCAGAACGCAGAAGCGGTCTGATGAAACAGAATTTGCCTGGCGGCCGTAGCGCGGTGGTCCCACCTGACCCCATGCCGAACTCAGAAGTGAAACGCCG‑TAg < 1:313842/149‑1 (MQ=35) gagagaAGATTTTCTGCGTGAGACAGAGTAAACCAGAACGCAGAAGTGGTCTGATGAAACAGAATTTGCCTGGCGGCCGTAGCGCGGTGGTCCCACCTGACCCCATGCCGAACTCAGAAGTGAAACGCCG‑TAGCTCCGATGGTAGtgtg < 2:559094/149‑1 (MQ=11) gaTTTTCAGCCTGATACAGATTAAATCAGAACGCAGAAGCGGTCTGATGAAACAGAATTTGCCTGGCGGCCGTAGCGCGGTGGTCCCACCTGACCACATGATGCACTCCGGAGGAAAGCAGCG‑TGGCCCCCCTGATCGTGTGGGGtctc > 2:127376/1‑149 (MQ=11) aTTGTCAGGCTGATACTAATTAAAGCAGAACGGAGAAGCGGTCTGATGAAACAGAATGGGCCTGGCGGCCGTAGCGCGGTGGTCCCACCTGACCCCATGCCGAACTCAGAAGTGAAACGCCG‑TAGCGCCGATGGTAGTGTGGGGTCTcc < 2:320675/149‑1 (MQ=11) tCAGCCTGATACAGATTAAATCAGAACGCAGAAGCGGTCTGATGAAACAGAATTTGCCTGGCGGCCGTAGCGCGGTGGTCCCACCTGACCCCATGCCGAACTCAGAAGTGAAACGCCG‑TAGCGCCGATGGTAGTGTGGGGTCTCCCCAt < 1:224400/149‑1 (MQ=32) aCAGATTAAATCAGAACGCAGAAGCGGTCTGATGAAACAGAATTTGCCTGGCGGCCTTAGCGCGGTGGTCCCACCTGACCCCATGCCGAACTCAGAAGTGAAACGCCG‑TAGCGCCGATGGTAGTGTGGGGTCTCCCCATGCGAGAGTAg < 2:345885/149‑1 (MQ=17) aCAGATTAAATCAGAACGCAGAAGCGGTCTGATGAAACAGAATTTGCCTGGCGGCCGTAGCGCGGTGGTCCCACCTGACCCCATGCCGAACTCAGAAGTGAAACGCCG‑TAGCGCCGATGGTAGTGTGGGGTCTCCCCATGCGAGAGTAg < 2:253904/149‑1 (MQ=32) cAGATTAAATCAGAACGCAGAAGCGGTCTGATGAAACAGAATTTGCCTGGCGGCCGTAGCGCGGTGGTCCCACCTGACCCCATGCCGAACTCAGAAGTGAAACGCCG‑TAGCGCCGATGGTAGTGGGGGGTCTCCTCATGCGAGAGTAgg < 1:532714/149‑1 (MQ=17) aGATTAAATCAGAACGCAGAAGCGGTCTGATGAAACAGAATTTGACTAGCGACCGTAGCGCGGTGGTCCAACCTGACCCCATGCCGAACTCAGACGGGAAACGCCG‑TACCGCCGAGCGTAGTGTGGCGCCTCCCTATGCGagagacggg > 2:608799/1‑144 (MQ=11) gATTAAATCAGAAGGCAGAAGCGGTCTGATGAAACAGAATTTGCCTGGCGGCCGTAGCGCGGGGGTCCGGCCTGACCCCATGCCGAAATCCGAAACGCCACGTAG‑TAGCGGCGTTGTTAGTGTGGGGGTTCTCACTGCGCGAGTCGGGa > 2:526634/1‑149 (MQ=2) gATTAAATCAGAACGCAGAAGCGGTCTGCTGAAACAGAATTTGCCTGGCGGCCGTAGCGCGGTGGTCCCACCTGACCCCATGCCGAACTCAG‑AGCCACATAATGTTTGCGCCGATGGAAGTTTGGGGTCTCCTCCTGCGGGCGTAGGGa > 1:139068/1‑149 (MQ=11) aTTAAATCAGAACGCAGAAGCGGTCTGATGAAACAGAATTTGCCTGGCGGCCGTAGCGCGGTGGTCCCACCTGACCCCATGCCGAACTCAGAAGTGAAACGCCG‑TAGCGCCGATGGTAGTGTGGGGTCTCCCCATGCGAGAGTAGGGaa < 1:252275/149‑1 (MQ=32) aTCAGAACGCAGAAGCGGTCTGATGAAACAGAATTTGCCTGGCGGCCGTAGCGCGGTGGTCCCGCCTGACCCCATGCCGAACTCAGAAGTGAAACGCCG‑TAGCGCCGATGGTAGTATGGGGTCTCCCCCTGCGAGAGAAGGGAACTGcc > 1:542066/1‑149 (MQ=255) aGAACGCAGAAGCGGTCTGATGAAACAGAATTTGCCTGGCGGCCGTAGCGCGGTGGTCCCACCTGACCCCATGCCGAACTCAGAAGTGAAACGCCG‑TAGCGCCGATGGTAGTGTGGGGTCTCCCCATGCGAGAGTAGGGAACTGCCAgg < 1:497547/149‑1 (MQ=32) aGAACGCAGAAGCGGTCTGATGAAACAGAATTTGCCTGGCGGCCGTAGCGCGGTGGTCCCACCTGACCCCATGCCGAACTCAGAAGTGAAACGCCG‑TAGCGCCGATCGTAGTGTGGGGACTCCCCATGCGAGAGTAGGGAACTGCCAgg > 1:865/1‑149 (MQ=17) cGCAGAAGCGGTCTGATGAAACAGAATTTGCCTGGCGGCCGTAGCGCGGTGGTCCCACCTGACCCCATGCCGAACTCAGAAGTGAAACGCCG‑GAGCGCCGATGGTAAGGTCTTGTCTGCGCATGTGAGAGTAGGGAACTGCCCGGCagc > 1:422180/1‑147 (MQ=11) cGGTCTGATGAAACAGAATTTGCCTGGCTGCCGTAGCGCGGTGGTCCCACCTGACCCCATGCCGAACTCAGAAGTGAAACGCCG‑TAGCGCCGATGGTAGTGTGGGGTCTCCCCATGCGAGAGTAGGGAACTGCCAGGCATCAAATTAAg < 1:266152/149‑1 (MQ=17) cGGTCTGATGAAACAGAATTTGCCTGGCGGCAGTAGCGCGGTGGTCCCACCTGACCCCATGCCGAACTCAGAAGTGAAACGCCG‑TAGCGCCGATGGTAGTGTGGGGTCTCCCCATGCGAGAGTAGGGAACTGCCAGGCATCAAATTAAg < 1:233407/149‑1 (MQ=14) gTCTGATGAAACAGAATTTGCCTGGCGGCCGTAGCGCGGTGGTCCCACCTGACCCCATGCCGAACTCAGAAGTGAAACGCCG‑TAGCGCCGATGGTAGTGTGGGGACTCCCCATGCGAGAGTAGGGAACGGCCAGGCATCAAATTAAGCa > 1:80333/1‑149 (MQ=17) gTCTGATGAAACAGAATGTGCGGGGCGGCCGTAGCGCGGCGGTCCCACCTGACCCCATGCCGAACTCAGAAGTGAAACGCCG‑GAGCGCCGATGGTAGTGTGGGGTCTCCCCATGCGAGAGTAGGGAACTGCCAGGCATCAAATTAAGCa < 1:77270/149‑1 (MQ=11) tgatgaAACAGAATTTGCCTGGCGGCCGTAGCGCGGTGGTCCCACCTGACCCCATGCCGAACTCAGAAGTGAAACGCCG‑TAGCGCCGATGGTAGTGTAGGGTCTCCCCATGCGAGAGGAGGGAACTGCCAGGCATCAAATTAAgtagta > 2:584276/1‑149 (MQ=12) tgatgaAACAGAATTTGCCTGGCGGCCGTAGCGCGGTGGTACCACCTGACCCCATGCCGAACTCAGAATGGAAACGCCG‑TAGCGCCGATGGTAGTGTGGGGTCTCCCCATGCGAGAGCAGGGAACTGCCAGGCATGAAATTAAgaggta > 2:200603/1‑144 (MQ=11) | CTAACCGGTACTAATGAACCGTGAGGCTTAACCTTACAACGCCGAAGATGTTTTGGCGGATGAGAGAAGATTTTCAGCCTGATACAGATTAAATCAGAACGCAGAAGCGGTCTGATGAAACAGAATTTGCCTGGCGGCCGTAGCGCGGTGGTCCCACCTGACCCCATGCCGAACTCAGAAGTGAAACGCCG‑TAGCGCCGATGGTAGTGTGGGGTCTCCCCATGCGAGAGTAGGGAACTGCCAGGCATCAAATTAAGCAGTA > NC_000913_3_hsa_tpiA/3946573‑3946833 |
| 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: ‑ |