| 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 | 90.9% | 41.3 / ‑0.7 | 22 | 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 (6/13); total (8/14) | |||||||||||
| 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 | 86.4% | 46.3 / 2.4 | 22 | intergenic (+586/+56) | gltP/yjcO | glutamate/aspartate:proton symporter/Sel1 family TPR‑like repeat protein |
| Reads supporting (aligned to +/- strand): ref base . (2/1); new base G (6/13); total (8/14) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 5.27e-01 | |||||||||||
| 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. | |||||||||||
GCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTT‑‑A‑‑C‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAACCAGTGCAGCGCC > NC_000913_3_hsa_tpiA/4296281‑4296499 || gCTTACCGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTT‑‑ACGC‑C‑GCATCCTACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTg < 1:96975/149‑1 (MQ=11) ccggctCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTCGCGTGATTTTGTAGGTCGGATAAGGCGTTT‑‑ACGC‑C‑GCATCCGACATCAATGCGTGATGCGACGCCTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTaa < 1:521146/144‑1 (MQ=11) cgcgTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTT‑‑ACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAAt < 1:369894/149‑1 (MQ=255) aTCAGGCCTACGCCAGACAGCCCAATGTCCTGATTTAGCGTGAGTTTGTAGGTATAATAAGGCGTTT‑‑ACGC‑C‑GCATCCGACACGGATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCaaa < 1:238747/149‑1 (MQ=14) cAGGCCTCCGCCAGACAGCGAAATAGCCAGACTTAGGGTGATTTTGTAGGTCGGATAAGGCGTTT‑‑ACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAAct < 1:484370/149‑1 (MQ=14) ggCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTT‑‑ACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCCTTGGTTAATTTTTCAAActct > 2:521870/1‑149 (MQ=255) ggCATACGCCAGTCAGCCCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTT‑‑ACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAActct < 2:249099/149‑1 (MQ=17) gCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGGTTTTGTAGGACGGATAAGCCGTTTG‑AG‑C‑C‑GCATCCGACATCAATCACTGAGACGACGCTTGCCGCGTCTTCTCAGACCTATCTTTACCGTCGGTTAGTTTTTCAAAccttc > 2:547260/1‑145 (MQ=14) cTACGCCAGACAGCGCAATAGCCTGATTTAGCGTTATTTTGTAGGTCGGATAAGGCGTTT‑‑ACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTCCAAACTCTTca < 1:385045/149‑1 (MQ=17) gCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTT‑‑ACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTACTTTTTCCAGATCTTCACAcc > 1:530829/1‑149 (MQ=14) cAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTT‑‑ACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCg < 1:57349/149‑1 (MQ=255) cgcAATAGCCTGATTTAGCGTGATTATGTAGGTCGGATAAGGCGTTT‑‑A‑‑CGCGGGATCCGACATCAATGCCGGATGCGACGCTTGCCGCGGCTTCTCAGGCCAATCTTAACCGTTGGTTAATTTTCCAAACTCTTCACAACCCGTAACaa > 2:299325/1‑149 (MQ=17) cgatggCCAGATTTATCGTGATTTGGAGTTTCTGATAAGGTGTTT‑‑ACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAAc < 2:98226/144‑1 (MQ=18) aagtgCCTGTTTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTT‑‑ACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAAcc < 2:94243/145‑1 (MQ=18) aTAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTT‑‑ACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATATTTCAAACTCTTCACACCCGGTATCAAAccc > 1:598714/1‑149 (MQ=255) aTAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTT‑‑ACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACAGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAAccc > 2:385571/1‑149 (MQ=255) cTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTT‑‑ACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCa < 1:99978/149‑1 (MQ=255) cGTGATTTTGTAGGTCGGATAAGGCGTTT‑‑ACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCa > 1:444373/1‑149 (MQ=255) gTGATTTTGTAGGTCGGATAAGGCGTTT‑‑ACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGGGTCTTATCAGGCCTATCTTAAACGTTGGTTAATTTTTTAAACTCTTCACACCCGGTATCAAACCCTTCACTGCAGCTCAg > 2:221953/1‑149 (MQ=18) ggTCGGATAAGGCGTTTCCG‑‑C‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAACCAGt < 1:58254/149‑1 (MQ=255) gATAAGGCGTTT‑‑ACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAACCAGTGCAgc < 1:615638/149‑1 (MQ=255) aaGGCGTTT‑‑ACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAACCAGTGCAGCGcc < 1:562457/149‑1 (MQ=255) || GCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTT‑‑A‑‑C‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAACCAGTGCAGCGCC > NC_000913_3_hsa_tpiA/4296281‑4296499 |
| 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: ‑ |