| Predicted mutation | ||||||
|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | annotation | gene | description |
| RA | NC_000913_3_hsa_tpiA | 4,296,363 | +GC | intergenic (+587/+55) | 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 | 95.0% | 55.1 / ‑2.6 | 20 | intergenic (+586/+56) | gltP/yjcO | glutamate/aspartate:proton symporter/Sel1 family TPR‑like repeat protein |
| Reads supporting (aligned to +/- strand): ref base . (1/0); new base C (7/12); total (8/12) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 4.00e-01 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 8.77e-01 | |||||||||||
| * | NC_000913_3_hsa_tpiA | 4,296,362 | 2 | . | G | 95.0% | 60.3 / ‑2.3 | 20 | intergenic (+586/+56) | gltP/yjcO | glutamate/aspartate:proton symporter/Sel1 family TPR‑like repeat protein |
| Reads supporting (aligned to +/- strand): ref base . (1/0); new base G (7/12); total (8/12) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 4.00e-01 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.19e-01 | |||||||||||
TCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTT‑T‑A‑‑CCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAACCAGTGCAGCGCC > NC_000913_3_hsa_tpiA/4296291‑4296499 || tCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTT‑T‑ACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCCGGCCTATCTTAACCGTTGGTTAAttttt > 2:155310/1‑149 (MQ=255) aTCAGGCCTACGTCAGACACGGGAATAGCCTGATTTAGGGTGATTTTGTGGGGCGGAGAAGGCGTT‑T‑ACGCCGCGTCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCaaa < 2:278421/149‑1 (MQ=14) aTCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTGGTAGGTCGGATAAGGCGTTGTCG‑‑CCGCATCCGACATCGATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTACCTTAACCGTTGGTTAATTTTTCaaa > 1:387558/1‑149 (MQ=14) ggCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTT‑T‑ACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAActct < 1:135255/149‑1 (MQ=255) gCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTT‑T‑ACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACAcc > 1:290931/1‑149 (MQ=255) cAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAATGCGTT‑T‑ACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTAt < 1:162418/149‑1 (MQ=255) gcAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTT‑T‑ACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCaaa < 1:189300/149‑1 (MQ=255) cAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTT‑T‑ACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAAc < 1:181536/149‑1 (MQ=255) aaTAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTT‑T‑ACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAAcc > 2:282835/1‑149 (MQ=255) aGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTT‑T‑ACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCtt < 1:87507/149‑1 (MQ=255) gcgtGATTTAGCGTGATTTTGTAGGGCGGATAAGGCGTT‑T‑ACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTc < 2:275778/146‑1 (MQ=21) ccTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTT‑T‑ACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCCCACCCGGTATCAAACCCTTcc > 1:44747/1‑149 (MQ=255) cTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTT‑T‑ACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCa < 2:327806/149‑1 (MQ=255) ttAGCGTGATTTTGTAGGTCGGATAAGGCGTT‑T‑ACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAg < 1:247915/149‑1 (MQ=255) gTGATCTTGTAGGTCGGATAAGGCGTT‑T‑ACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAg < 1:37182/149‑1 (MQ=255) ggTCGGATAAGGCGTT‑T‑ACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAACCAGt > 1:119033/1‑149 (MQ=255) gTCGGATAAGGCGTT‑T‑ACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAACCAGTg > 1:49768/1‑149 (MQ=255) aaGGCGTT‑T‑ACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATGTGTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAACCAGTGCAGCGcc < 1:12846/149‑1 (MQ=37) ggCGTT‑T‑ACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCgg < 1:5153/103‑1 (MQ=255) ggCGTT‑T‑ACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCgg > 2:5153/1‑103 (MQ=255) || TCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTT‑T‑A‑‑CCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAACCAGTGCAGCGCC > NC_000913_3_hsa_tpiA/4296291‑4296499 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 22 ≤ ATCG/ATCG < 37 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |