| 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 | 92.9% | 60.4 / ‑0.2 | 28 | intergenic (+586/+56) | gltP/yjcO | glutamate/aspartate:proton symporter/Sel1 family TPR‑like repeat protein |
| Reads supporting (aligned to +/- strand): ref base . (1/1); new base C (10/16); total (11/17) | |||||||||||
| 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: E-value score below prediction cutoff. | |||||||||||
| Rejected as polymorphism: Variant not supported by required number of reads on each strand. | |||||||||||
| * | NC_000913_3_hsa_tpiA | 4,296,362 | 2 | . | G | 92.9% | 58.9 / ‑0.2 | 28 | intergenic (+586/+56) | gltP/yjcO | glutamate/aspartate:proton symporter/Sel1 family TPR‑like repeat protein |
| Reads supporting (aligned to +/- strand): ref base . (1/1); new base G (10/16); total (11/17) | |||||||||||
| 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: E-value score below prediction cutoff. | |||||||||||
| Rejected as polymorphism: Variant not supported by required number of reads on each strand. | |||||||||||
GACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTT‑AGCGTGATTTTGTAGGTCGGATAAGGCGTTTA‑‑C‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAACCAGTGCAGCGCCTT > NC_000913_3_hsa_tpiA/4296278‑4296501 || gACGCTTAACGCGTCTTATCAGGCCTACGCCCGACAGCGCAATAGCCTGATTT‑AGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑C‑GCATCCGACATCAATGCCTGATGCACCGCTTGCATCGTTTTATCAGGCCTATCTTAACCg > 2:8748/1‑149 (MQ=11)gACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATCGCCGGATTT‑AGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCCGGCCTTATCAAGCCTATCTTaatcc > 2:289612/1‑146 (MQ=11) cgcgTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTT‑AGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAAt < 1:529447/149‑1 (MQ=255) tggTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTT‑AGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAAtt < 1:212945/147‑1 (MQ=255) gcgTCTTATCCGGACTACGCCAGACAGCGAAATAGCCTGATTT‑AGCGTGATTTTGTAGGTCGACTAAGGCGTTTA‑‑CGCAGCCTCCGACTTCAATGCTTGATGCAACGCTTGCCGCCGCTTGTCACTCCTCTCCTAACCGTTGCTTAAtt > 2:88640/1‑149 (MQ=2) cgTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTT‑AGCGTGCTTTTGTAGGTCGGATAAGGCGTTTACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCACGTCTTATCTGGCCTATCTTCACCGTTGGGTCAttt > 1:276144/1‑149 (MQ=11) gTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTT‑AGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAAtttt > 2:392780/1‑149 (MQ=255) gTCTGATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTT‑AGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAAtttt < 1:41366/149‑1 (MQ=255) tCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTT‑AGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAGttttt > 1:32155/1‑149 (MQ=255) tgtATCAGGCTTAAGCCAGACGGCGCAAAAG‑GAGATTTAAGCGGGAATTTGTAGGTTGGATAAGGCGTTCACGC‑C‑GCAGACGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTc < 2:127302/147‑1 (MQ=9) ctttaccggCCCACGCCAGACAGCGCAATAGCCTGATTT‑AGCCGGGATTTGTAGGTCGGAAAAGGCGTTTACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCACGCCTATCTTAACCCTTGGGTGATTTTTc > 2:444316/8‑149 (MQ=11) cgtatacggCCTACGCCAGACCGCGCAATAGCCTGATTT‑AGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑C‑GCATCCGCCATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTc < 2:201987/142‑1 (MQ=14) attagcccTACGCAAGACAGTGCAATAGCCTGATTT‑AGCCTGATTTTGTAGGTCGGATACGGCGCTTACGC‑C‑GCACGCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCaaa < 2:250431/143‑1 (MQ=14) aGGCCTACGCCAGACAGCGCAATAGCCTGATTT‑AGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTATTCACActc > 2:445187/1‑149 (MQ=14) aGGCCTACGCCAGACAGCGCAATAGCCTGATTT‑AGCGTGATTTTGTAGGTCAGATAAAGCGTTTACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAActc < 1:514550/149‑1 (MQ=14) aCAGCGCAATAGCCTGATTT‑AGAGTGATTTTGTAGGCCGGATACGGCCGTTACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTa < 2:300663/149‑1 (MQ=18) ggaaTTGCCTGATTT‑AGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCaaa < 2:563183/147‑1 (MQ=18) gCCTGATTT‑AGGGTGATTTTTTAGTTGGGGTAGGGCGTTTC‑‑CGCGGCATCGGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCTCACCCGGTATCAAACCCTTc < 2:517070/149‑1 (MQ=18) ccTGATTT‑AGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTcc < 2:174846/149‑1 (MQ=255) tt‑AGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAg < 1:437398/149‑1 (MQ=255) tAGGTCGGATAAGGCGTTTACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGATGGTTAATTTTTCACACTCTTCCCACCCGGTCTCAAACCCTTCCATACAGCTCAGGTTCAAcgc > 2:201191/1‑147 (MQ=21) gTCGGATAAGGCGTTTACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTATTCACACCCGGTATCAAACCCTTCCAATCATCTCAGGTTAGACCAGTg > 2:163301/1‑149 (MQ=21) cGGACAAGGCGTTTACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAACCAGTGCa < 1:279921/149‑1 (MQ=255) ggATAAGGCTTTTACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAACCAGTGCAg < 1:193611/149‑1 (MQ=255) ggATAAGGCGTTTACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAACCAGTGCAg < 2:482620/149‑1 (MQ=255) ggATAAGGCGGTTACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAACCAGTGCAg < 2:587861/149‑1 (MQ=255) tAAGGCGTTTACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCCGGTTCAACCACTGCAgcgc > 2:204733/1‑149 (MQ=37) ggCGTTTACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAACCAGTGCAGCGCCtt < 2:533509/149‑1 (MQ=255) || GACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTT‑AGCGTGATTTTGTAGGTCGGATAAGGCGTTTA‑‑C‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAACCAGTGCAGCGCCTT > NC_000913_3_hsa_tpiA/4296278‑4296501 |
| 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: ‑ |