| 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 | 94.7% | 48.9 / ‑2.7 | 19 | 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 (7/11); total (8/11) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 4.21e-01 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.77e-01 | |||||||||||
| * | NC_000913_3_hsa_tpiA | 4,296,362 | 2 | . | G | 94.7% | 44.2 / ‑2.8 | 19 | 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 (7/11); total (8/11) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 4.21e-01 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 8.10e-01 | |||||||||||
CTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTA‑‑CC‑‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAACCAG > NC_000913_3_hsa_tpiA/4296292‑4296490 || cTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCC‑‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTc > 2:310448/1‑149 (MQ=255) aTCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCC‑‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTCTCTTAACCGTTGGTTAATTTTTCaaa > 1:363589/1‑149 (MQ=255) gCCTACCCTAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGTCGTTTACGCC‑‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCtt < 1:51639/149‑1 (MQ=17) ccTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCC‑‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAACCTCTTc < 2:567561/149‑1 (MQ=255) ccTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCC‑‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTc > 2:349351/1‑149 (MQ=255) gCCCGACGGCGCAATAGGCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCC‑‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACAcc < 2:571909/149‑1 (MQ=17) gCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCC‑‑GCATCCGAGATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGATCGCTAACTCTTCAAACTCTTCACGcc > 1:446909/1‑149 (MQ=14) gCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCC‑‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCacac > 2:68156/1‑148 (MQ=255) gCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCC‑‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCacac < 1:68156/148‑1 (MQ=255) ccAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTA‑‑CCCAGCATCCGAAATCAATACCTGATGCGACGCTTGCCGCGTCTGATCAGGCCTATCTTAACCCGTGGTTAATTTTTCAAACTCTTCACAccc > 2:95047/1‑149 (MQ=17) cAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCC‑‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCg > 1:460710/1‑149 (MQ=255) aGACAGCGCAATAGCCGGATGTAGCGTGATTTTGGAGGTCGGATAAGGCGTTTACGCC‑‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCgg < 1:471657/149‑1 (MQ=17) gcAATAGCCTGATTTAGCGTGATTTTGCAGGTCGGATAAGGCGTTTACGCC‑‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCaaa < 1:484672/149‑1 (MQ=255) accggATATAGCGTGATTTTGCAGCTCGCATAGGGCCTTTACGCC‑‑GTATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTc < 2:160743/145‑1 (MQ=21) aGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCC‑‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCt < 1:485937/149‑1 (MQ=255) cgcgATTTTGTAGGTCGGATAAGGCGTTTACGCC‑‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCa < 1:148938/146‑1 (MQ=255) gTGATTTTGTAGGTCGGATAAGGCGTTTACGCC‑‑GCATCCGGCATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAg > 1:435290/1‑149 (MQ=255) tAGGTCCGATAAGGCGTTTACGCC‑‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAACCa < 1:251736/149‑1 (MQ=255) agggctgATAAGGCGTTTACGCC‑‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAACCAg < 1:541419/143‑1 (MQ=25) || CTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTA‑‑CC‑‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAACCAG > NC_000913_3_hsa_tpiA/4296292‑4296490 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 22 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |