| 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 | 96.3% | 64.7 / ‑3.7 | 27 | intergenic (+586/+56) | gltP/yjcO | glutamate/aspartate:proton symporter/Sel1 family TPR‑like repeat protein |
| Reads supporting (aligned to +/- strand): ref base . (0/1); new base C (10/16); total (10/17) | |||||||||||
| 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 | |||||||||||
| * | NC_000913_3_hsa_tpiA | 4,296,362 | 2 | . | G | 96.3% | 67.2 / ‑3.6 | 27 | intergenic (+586/+56) | gltP/yjcO | glutamate/aspartate:proton symporter/Sel1 family TPR‑like repeat protein |
| Reads supporting (aligned to +/- strand): ref base . (0/1); new base G (10/16); total (10/17) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.97e-01 | |||||||||||
ACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGAT‑AAGGC‑GTTTA‑‑CCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAACCAGTGCA > NC_000913_3_hsa_tpiA/4296279‑4296494 || aCGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGAT‑AAGGC‑GTTTACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAAACGt > 1:141130/1‑149 (MQ=0) gCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGAT‑AAGGC‑GTTTACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTg < 1:658206/149‑1 (MQ=255) tAACGCTTCTTATCACGCCTACTCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGAT‑AAGGC‑GTTTACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACAGTTGGtt < 2:617997/149‑1 (MQ=11) cctCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGAT‑AAGGC‑GTTTACGCCGCATCCTACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAAttt < 1:325792/147‑1 (MQ=14) agcAGGCCATCGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGAT‑AAGGC‑GTTTACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCaaa < 2:423731/147‑1 (MQ=14) tCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGAT‑AAGGC‑GTTTACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAAc < 2:320341/149‑1 (MQ=255) tCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGAT‑AAGGC‑GTTTACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAAc > 1:435438/1‑149 (MQ=255) aGGCCTACGCCAGACAGCGCAATAGCCTAATTTAGCGTGATTTTGTAGGTCGGAT‑AAGGC‑GTTTACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAActc < 1:270396/149‑1 (MQ=255) gCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGAT‑AAGGC‑GTTTACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCtt < 2:339285/149‑1 (MQ=255) aCGCCCGTCAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGAT‑AAGGC‑GTTTACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAActct > 2:217794/1‑144 (MQ=17) aCGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGAT‑AAGGC‑GTTTACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAActct < 1:217794/144‑1 (MQ=255) gCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGAT‑AAGGC‑GTTTACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATACGGCCTATCTTAACCGTTGGTTACTTTTTCAAACTCttatcccc > 2:745195/1‑143 (MQ=14) gCCAGACAGCGCAATAGCCTGATTAAGCGTGATTTTGTAGGGCGGAT‑AAGGC‑GTTTACGCCGCATCCGACATCCATGCCTGATGCGCCGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGCTGGTTAATTTTTCAAACTCTTGACAcc > 2:476927/1‑149 (MQ=17) aCAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGAT‑AAGGC‑GTTTACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTa < 2:642763/149‑1 (MQ=255) gcAATAGCCTGTTTTAGCGTGATTTTGTAGGTCGGAT‑AAGGC‑GTTTACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCaaa < 1:144569/149‑1 (MQ=255) aTAGCCTGATTTAGCGTGATTTTGTAGGTCGGTTCCATTCGGGGCT‑‑CTGTATCTTACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAAccc < 2:588381/149‑1 (MQ=21) aGCCTGATTTAGCGTGATTTTGTAGGTCGGAT‑AAGGC‑GTTTACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCtt < 1:442354/149‑1 (MQ=255) aGCCTGATTCAGCGTGATTTTGTAGGTCGGAT‑AAGGC‑GTTTACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCtt < 1:258679/149‑1 (MQ=255) cTGATTTAGCGTGATTTTGTAGGTCGGAT‑AAGGC‑GTTTACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGCTATCAAACCCTTCCa > 2:220500/1‑149 (MQ=255) gATTTAGCGTGATTTTGTAGGTCGGAT‑AAGGC‑GTTTACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATa < 1:125602/149‑1 (MQ=255) cGTGATTTTGTAGGTCGGAT‑AAGGC‑GTTTACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGCTATAACACCCTTCCCTACACCTCa > 2:97557/1‑149 (MQ=18) gTGATTTTGTAGGTCGGAT‑AAGGC‑GTTTACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAACCTCTTCACACCAGGTATCAAACCCTTCCATACAGCTCAg > 2:84586/1‑149 (MQ=21) tGATTTTGTAGGTCGGAT‑AAGGC‑GTTTACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCCGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAACCCCTTCCTTACCGCTCAgg > 1:28420/1‑149 (MQ=21) gATTTTGTAGGTCGGAT‑AAGGC‑GTTTACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGt < 1:784932/149‑1 (MQ=255) ggTCGGAT‑AAGGC‑GTTTACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGGCTTAGCAGGCCTATCTTAACCGGTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAACCAGt > 2:347312/1‑149 (MQ=25) cGGAT‑AAGGC‑GTTTACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAACCAGTGCa < 1:220500/149‑1 (MQ=255) cGGAT‑AAGGC‑GTTTACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCATTCCATACAGCTCAGGTTCAACCAGTGCa < 2:391106/149‑1 (MQ=255) || ACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGAT‑AAGGC‑GTTTA‑‑CCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAACCAGTGCA > NC_000913_3_hsa_tpiA/4296279‑4296494 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 13 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |