| 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 | 97.3% | 89.6 / ‑3.9 | 37 | 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 (15/21); total (15/22) | |||||||||||
| 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: Frequency below/above cutoff threshold. | |||||||||||
| Rejected as polymorphism: Variant not supported by required number of reads on each strand. | |||||||||||
| * | NC_000913_3_hsa_tpiA | 4,296,362 | 2 | . | G | 97.3% | 88.3 / ‑3.8 | 37 | 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 (15/21); total (15/22) | |||||||||||
| 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: Frequency below/above cutoff threshold. | |||||||||||
| Rejected as polymorphism: Variant not supported by required number of reads on each strand. | |||||||||||
GCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTA‑‑C‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAACCAGTGCAGCGCCT > NC_000913_3_hsa_tpiA/4296276‑4296500 || gCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAAc < 1:235920/149‑1 (MQ=2) gcgTCTTATCAGGCCTACGCTCGACAGGGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAAtt < 1:295489/149‑1 (MQ=14) gcgTCTGATCACGCCTACGCCAGACACCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCAGCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAAtt < 1:119135/149‑1 (MQ=14) tCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAAACGTTGGTTAAttttt > 2:606085/1‑149 (MQ=255) tCAGGCCTACGCCAGACAGCGCAATCGCCTGATTTAGCGTGATTTTGTAGGTCGGAGAAGGCGTTTACGC‑‑CGCATCCGGCATACATGCCTGATGCGCCGCGTGCCGCGTCTTATCAGGACTATCTTAACCGTTGGTTAAtttgttatac > 2:365023/1‑142 (MQ=14) aGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAActc > 2:501008/1‑149 (MQ=255) ggCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGACCTATCTTAACCGTTGCTTAATTTTTCAAActtt > 2:158132/1‑147 (MQ=14) ggcTACGCGAGACAGCGCAATAGCGTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCtt < 2:674577/147‑1 (MQ=17) gCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTCGGTCGGGTCAGTCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCtt < 1:684338/149‑1 (MQ=17) tcTACGACAGACAGCGTAATTGCCTGATTTAGCGTTATTTTGTAGGTCGGATAAGGCCTTTACGC‑‑CGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTc < 2:219187/148‑1 (MQ=14) ccaCGCCAGACAGCGCAGTAGGTTGATTTAGCTTGATTTTGTAGGTCGGATAAGGCCTATACGC‑‑CGCGTCCGGCATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTca < 2:145071/147‑1 (MQ=17) cTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTca < 1:66945/149‑1 (MQ=255) gCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACAcc > 1:148717/1‑149 (MQ=255) aCAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACGCGGTa > 2:57178/1‑149 (MQ=255) aCAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTa < 1:152082/149‑1 (MQ=255) aCAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTa < 1:310688/149‑1 (MQ=255) cggggcAATGGCCTGATTTAGGGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTAt < 2:454643/145‑1 (MQ=18) cAGGGCAATTGTCTGGTTGAGGGTGATTTTGTAGGTCGGATAAGGGGTTTACGC‑‑CGTATCCGAAATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTAt < 2:102486/149‑1 (MQ=18) cAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAAc < 1:101520/149‑1 (MQ=255) aaTAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTCATTTTTCATACTCTTCACACCCGGTATCAAAcc < 1:540582/149‑1 (MQ=18) caatAGCGTGATTTTGTAGGTCGAATAAGTGTTCTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGTGAGTTATCAGGCCTATCTTACCCGTTGGTTAATTTTTCACTCTCTTCACACCCGGTATCAAACCCTTCCATAc < 1:454285/146‑1 (MQ=18) tttACCGTGATTTTGTAGGTCGGATAAGGCGTTTA‑‑CGACGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACa < 1:37532/149‑1 (MQ=255) tGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTAAAACTCTGCACACCCGGTATCAAACCCTTCCATACAGCTCAgg < 2:487637/149‑1 (MQ=21) tGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTAGCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAgg < 1:309004/149‑1 (MQ=255) taTTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGt < 1:118209/148‑1 (MQ=255) gATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACATCACTGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTACAACTCTTCACCCCCGCGACCAAACCCTTCCATCCAGCCCAAGt > 1:487043/1‑149 (MQ=17) gATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAACCTCTTCACACCCGGTATCAAACCCTACCATACAGccacggt > 2:652546/1‑143 (MQ=21) gATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGATGCGTCTGATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGt > 1:685102/1‑149 (MQ=25) gATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTAGCAGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATCCAGTTAAGGt > 1:685323/1‑149 (MQ=21) gATTTTGTAGGGCGGATAAGGCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGt < 1:408806/149‑1 (MQ=255) tAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAACCa < 1:114349/149‑1 (MQ=255) tAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAACCa < 2:291931/149‑1 (MQ=255) gTCGGATAAGGCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAACCAGTg > 2:553388/1‑149 (MQ=255) gTCGGATAAGGCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAACCAGTg > 1:662216/1‑149 (MQ=255) tCGGATAAGGCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGAGGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCACACTCTTCACACCCGGTATCAAACCCTTACATACAGCTCGGGTTCCACCAGTGc > 1:214170/1‑149 (MQ=25) ggATAAGGCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAAACCTTCCATACAGCTCAGGTTCAACCAGTGCAg > 1:616472/1‑149 (MQ=255) aGGCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAACCAGTGCAGCGCCt > 1:172175/1‑149 (MQ=255) || GCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTA‑‑C‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAACCAGTGCAGCGCCT > NC_000913_3_hsa_tpiA/4296276‑4296500 |
| 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: ‑ |