| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | NC_000913_3_hsa_pgi | 4,296,408:1 | +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_pgi | 4,296,408 | 1 | . | C | 93.3% | 72.6 / ‑0.2 | 30 | intergenic (+586/+56) | gltP/yjcO | glutamate/aspartate:proton symporter/Sel1 family TPR‑like repeat protein |
| Reads supporting (aligned to +/- strand): ref base . (0/2); new base C (16/11); total (16/14) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 1.92e-01 | |||||||||||
| 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_pgi | 4,296,408 | 2 | . | G | 93.3% | 74.1 / ‑0.2 | 30 | intergenic (+586/+56) | gltP/yjcO | glutamate/aspartate:proton symporter/Sel1 family TPR‑like repeat protein |
| Reads supporting (aligned to +/- strand): ref base . (0/2); new base G (16/12); total (16/14) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 2.09e-01 | |||||||||||
| 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. | |||||||||||
TGATTTTGTAGGTCGGATAAGGCGTTTATGCCGCATCCGACATCAACGCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGC‑GTT‑T‑‑A‑‑CCGCATCCGACATCAATGCCTGATGC‑GACG‑CTTGCCGCGTCTTATCAGGCCTATC‑TTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAACCAGTGCAGCGCCT > NC_000913_3_hsa_pgi/4296268‑4296546 || tGATTTTGTAGGTCGGATAAGGCGTGTATGCCGCATCCGACATCAACGCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGCCAGCGCAATAGCCTGATTTAGCGTGATTTTCTAGGTAGGATAAGGC‑GTT‑T‑‑A‑‑cacctcat > 1:911206/1‑142 (MQ=11) gACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGC‑GTT‑T‑‑ACGCCGCATGCGACTTCAATGCCTGATGC‑GACG‑CTTGCCTCGTCTTATCAGGCCTATC‑TTAACCg > 1:887816/1‑149 (MQ=11) gACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGC‑GTT‑T‑‑ACGCCGCATCCGACATCAATGCCTGATGC‑GACG‑CTTACCGCAACTTATCAGGCCTATC‑TTAACCg > 1:299146/1‑149 (MQ=11) aCGCGTCTTATCAGTCCTACTCCATACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGC‑GTT‑T‑‑ACGCCGCATCCGACATCAATGCCTGATGC‑GACG‑CTTGCCGCGTCTTATCAGGCCTATC‑TTAACCGTTGGTTaa < 1:919890/149‑1 (MQ=11) cTTATCAGGCCTACGCCAGACAGCGCAATTGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGC‑GTT‑T‑‑ACGCCGCATCCGACATCAATGCCTGATGC‑GACG‑CTTGCCGCGTCTTATCAGGCCTATC‑TTAACCGTTGGTTAATTTTTc < 1:428048/149‑1 (MQ=255) cTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTAGTTATTCATATAAGGC‑GTT‑G‑‑ACGCCGCATCCGACATCAATGCCTGATGC‑GACG‑CTTGCCGCGTCTTATCAGGCCTATC‑TTAACCGTTGGTTAATTTTTc < 1:442582/149‑1 (MQ=14) tCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGC‑GTT‑T‑‑ACGCCGCATCCGACATCAATGCCTGATGC‑GACG‑CTTGCCGCGTCTTATCAGGCCTATC‑TTAACCGTTGGTTAATTTTTCAAAc < 1:378205/149‑1 (MQ=255) cAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGC‑GTT‑T‑‑ACGCCGCATCCGACATCAATGCCTGATGC‑GACG‑CTTGCCGCGTCTTATCAGGCCTATC‑TTAACCGTTGGTTAATTTTTCAAAct < 1:539490/149‑1 (MQ=255) aGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGC‑GTT‑T‑‑ACGCCGCATCCGACATCAATGCCTGATGC‑GACG‑CTTGCCGCGTCTTATCAGGCCTATC‑TTAACCGTTGGTTAATTTTTCAAActc > 1:548919/1‑149 (MQ=255) aGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGC‑GTT‑T‑‑ACGCCGCATCCGACATCAATGCCTGATGC‑GACG‑CTTGCCGCGTCTTATCAGGCCTATC‑TTAACCGTTGGTTAATTTTTCAAActc < 1:130148/149‑1 (MQ=255) ccTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGC‑GTT‑T‑‑ACGCCGCATCCGACATCAATGCCTGATGC‑GACG‑CTTGCCGCGTCTTATCAGGCCTATC‑TTAACCGTTGGTTAATTTTTCAAACTCTTc > 1:857246/1‑149 (MQ=255) cTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGC‑GTT‑T‑‑ACGCCGCATCCGACATCAATGCCTGCTGCTCACG‑‑GGGCTGCGTCTTATCAGGCCTATC‑TTAACCGTTGGTTAATTTTTCAAACTCTTca > 1:736084/1‑149 (MQ=17) cTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGC‑GTT‑T‑‑ACGCCGCATCCGACATCAATGCCTG‑TGG‑GGCGACAAGCCGCGTCTTATCAGGCCTATC‑TTAACCGTTGGTTAATTTTTCAAACTCTTca > 1:736099/1‑149 (MQ=17) cGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGC‑GTT‑T‑‑ACGCCGCATCCGACATCAATGCCTGATGC‑GACG‑CTTGCCGCGTCTTATCAGGCCTATC‑TTAACCGTTGGTTAATTTTTCAAACTCTTCacac > 1:715816/1‑149 (MQ=255) cAGACAGCGCAATGGCGTGATTTAGCGTGATTTTGTAGGTCGGCTGCGGCGGTTCT‑‑G‑‑CCGCATTCGACATCAATGCCTGATGC‑GACG‑CTTGCCGCGTCTTATCAGGCCTATC‑TTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCg < 2:57418/149‑1 (MQ=18) cAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGC‑GTT‑T‑‑ACGCCGCATCCGACATCAATGCCTGATGC‑GACG‑CTTGCCGCGTCTTATCAAGCC‑ATCGTCAACCGTGGGTTAATTTTTCAAACTCTTCACAACCg > 1:24508/1‑149 (MQ=14) cgcAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGC‑GTT‑T‑‑ACGCCGCATCCGACATCAATGCCTGATGC‑GACG‑CTTGCCGCGTCTTATCAGGCCTATC‑TTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCaa > 1:540158/1‑149 (MQ=255) aaTAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGC‑GTT‑T‑‑ACGCCGCATCCGACATCAATGCCTGATGC‑GACG‑CTTGCCGCGTCTTATCAGGCCTATC‑TTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAAcc < 2:514962/149‑1 (MQ=255) cTGATTTAGCGTGATTTTGTAGGTCGGATAAGGC‑GTT‑T‑‑ACGCCGCATCCGCCATCAATGCCTGATGC‑GACG‑CTTGCCGCGTCTTATCAGGCCTATC‑TTAACCGTTCCTTAATTTTTCCTACTCTTCACACCCAGTAACCAACCCCTCCa > 1:169418/1‑149 (MQ=17) cTGATTTAGCGTGATTTTGTAGGTCGGATAAGGC‑GTT‑T‑‑ACGCCGCATCCGACATCAATGCCTGATGC‑GACG‑CTTGCCGCGTCTTATCAGGCCTATC‑TTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCa > 1:918468/1‑149 (MQ=255) cTGATTTAGCGTGATTTTGTAGGTCGGATAAGGC‑GTT‑T‑‑ACGCCGCATCCGACATCAATGCCTGATGC‑GACG‑CTTGCCGCGTCTTATCAGGCCTATC‑TTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTACCAAACCCTGCCa > 1:318751/1‑149 (MQ=18) tGATTTAGCGTGATTTTGTAGGTCGGATAAGGC‑GTT‑T‑‑ACGCCGCATCCGACATCAATGCCTGATGC‑GCCG‑CTTGCCGCGTCTTATCACGCCTATC‑TTAACCGTTGGTTAATTTTTCAACCTCTGCACACCCAGCAGCCAACCCTTcctt > 2:486532/1‑147 (MQ=17) gATTTAGCGTGATTTTGTAGGTCGGATAAGGC‑GTT‑T‑‑ACGCCGCATCCGACATCAATGCCTGATGC‑GACG‑CTTGCCGCGTCTTATCAGGCCTATC‑TTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATa > 1:868304/1‑149 (MQ=255) ttAGCGTGATTTTGTAGGTCGGATAAGGC‑GTT‑T‑‑ACGCCGCATCCGACATCAATGCCTGATGC‑GACG‑CTTGCCGCGTCTTATCAGGCCTATC‑TTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAg < 2:540158/149‑1 (MQ=255) tctgCGTGATTTTGTAGGTCGGATAAGGC‑GTT‑T‑‑ACGCCGCATCCGACATCAATGCCTGATGC‑GACG‑CTTGCCGCGTCTTATCAGGCCTATC‑TTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAg < 1:248695/146‑1 (MQ=255) gTGATTTTGTAGGTCGGATAAGGC‑GTT‑T‑‑ACGCCGCATCCGACATCAATGCCTGATGC‑GACG‑CTTGCCGCGTCTTATCAGGCCTATC‑TTAACCGTTGGTTAATTTTTCTAACTTTTCACACCCGGTATCAAACCCTTCCATTCTGCTCAg > 1:637567/1‑149 (MQ=21) tggTAGGGTGGATAAGGC‑TTT‑T‑‑AGGCCGCATGCGACAGCAATGCCTGATGC‑GACG‑CTTGCCGCGTCTTGTCAGGCCTATC‑TTAACCGTTGGTTAATTTTTCAAACTCTTCACCCCCGGTATCAAACCCTTCCATACAGCTCAGGTTCaa < 2:3782/147‑1 (MQ=25) tgtcgctCGGATTAGGC‑GCT‑T‑‑ACGCCGCATCTGACATTAATGCCTGATGC‑GACG‑CTTGACGCGTCTTATCAGGCCTATC‑TTAACCGTTGGTTAATTTTTCCAACTCTTCACACCCGGTCTCAAACCCTTCCATTCAGCTCAGGTTCAAc < 1:877858/143‑1 (MQ=25) tagagcGGATAAGGC‑GTT‑TACA‑‑CCGCATCAGGCGTCAATGCCTGATGC‑GACG‑CTTGCCGCGTCTTATCAGGCCTATC‑TTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAACCa < 2:941172/144‑1 (MQ=37) ggTCGGATAAGGC‑GTT‑T‑‑ACGCCGCATCCGACATCAATGCCTGATGC‑GACG‑CTTGCCGCGTCTTATCAGGCCTATC‑TTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAACCatt > 2:954722/1‑147 (MQ=255) aGGC‑GTT‑T‑‑ACGCCGCACCCGACATCAATGCCTGATGC‑GACG‑CTTGCCGCGTCTTATCAGGCCTATC‑TTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAACCAGTGCAGCGCCt < 2:510951/149‑1 (MQ=255) || TGATTTTGTAGGTCGGATAAGGCGTTTATGCCGCATCCGACATCAACGCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGC‑GTT‑T‑‑A‑‑CCGCATCCGACATCAATGCCTGATGC‑GACG‑CTTGCCGCGTCTTATCAGGCCTATC‑TTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAACCAGTGCAGCGCCT > NC_000913_3_hsa_pgi/4296268‑4296546 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 8 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |