| 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 | 95.3% | 116.7 / 1.3 | 45 | 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 (18/23); total (19/26) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 5.02e-01 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 8.65e-01 | |||||||||||
| * | NC_000913_3_hsa_tpiA | 4,296,362 | 2 | . | G | 93.3% | 120.0 / 4.1 | 45 | intergenic (+586/+56) | gltP/yjcO | glutamate/aspartate:proton symporter/Sel1 family TPR‑like repeat protein |
| Reads supporting (aligned to +/- strand): ref base . (1/2); new base G (18/24); total (19/26) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.72e-01 | |||||||||||
CCGCATCCGACATCAACGCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTT‑T‑‑A‑‑CCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAACCAGTGCAGCGCC > NC_000913_3_hsa_tpiA/4296252‑4296499 || ccGCATCCGACATCAACGCCTGATGCGACGCTTAACGCGTCTTATCAGCCCCACGCCAGACAGCGAAACAGCCTGAATTAGCGTGATTTTGTAGGTCGGATAAGGAGTT‑TGGT‑‑TATCACCCGACATCAATGCCTGATGCGACGCTTGcc < 1:1042434/149‑1 (MQ=11) gCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTT‑T‑‑ACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAAc > 2:385747/1‑149 (MQ=2) gCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTT‑T‑‑ACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAAc > 1:737708/1‑149 (MQ=2) gACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTT‑T‑‑ACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCg > 1:419177/1‑149 (MQ=9) gCTTAACGCGTCTTATCAGGCCTACGCCAGACCGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTT‑T‑‑ACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTg < 1:499096/149‑1 (MQ=255) cTTAACGCGTTTTATCAGGACTGCGCCAGACAGCGCCATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTT‑T‑‑ACGCCGCATCCGACATCAATGCCTGATGCGACGCTTACCGCGTCTTATCAGGCCTATCTTAACCGTTgg < 2:847476/149‑1 (MQ=11) cgcgTCTTATCAGGCCTACGCCAGACAGCGTAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTT‑T‑‑ACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAAt < 1:194695/149‑1 (MQ=255) cTTATCAGGCCCACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTT‑T‑‑ACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTc < 1:1002967/149‑1 (MQ=255) ttATCAGGCCTACGCCAGACAGCGCAATAGACTGATTTTGCGTGAAATTGTAGGTCGGATAAGGCGTT‑TG‑AG‑CCGCATCCGACATCAATGCCTGAAGCGACGCTTGCCGTGTCTCATCCGGACTCTCTTACACGTTGGTTTATTTTTCa > 2:153921/1‑149 (MQ=11) gtACGCCAGAGAGAGCAAGAGCCTGATCTAGCGTGATTTTGTAGGTCGGATAAGGCGTT‑T‑‑ATGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCCTca < 2:808741/148‑1 (MQ=17) tACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTT‑T‑‑ACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTcac > 1:264435/1‑149 (MQ=255) gCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTT‑T‑‑ACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACAcc < 1:1050137/149‑1 (MQ=255) gCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTT‑T‑‑ACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACAcc > 1:499916/1‑149 (MQ=255) gACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTT‑T‑‑ACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGt > 2:996883/1‑149 (MQ=255) gACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTT‑T‑‑ACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGt > 2:878542/1‑149 (MQ=255) cccAGCGCAATACCCTGCTTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTAC‑‑G‑‑CCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTa < 2:691720/147‑1 (MQ=18) aGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTT‑T‑‑ACGCCGCAGCCGACATCAATGCGTGATCCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATc > 2:386468/1‑149 (MQ=18) gtaaTAGCCTGATTTATCGTGATTTTGTAGGTCCGATACGGCGTT‑T‑‑ACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCaaa < 2:790217/147‑1 (MQ=18) gcAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTT‑T‑‑ACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCaaa < 2:264435/149‑1 (MQ=255) cAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTT‑T‑‑ACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCAGTATCAAAc > 1:91061/1‑149 (MQ=255) aaTAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTT‑T‑‑ACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAAcc > 2:583940/1‑149 (MQ=255) aTAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTT‑T‑‑ACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCGGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAAccc > 2:909775/1‑149 (MQ=255) ccTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTT‑T‑‑ACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTcc > 2:35695/1‑149 (MQ=255) cTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTT‑T‑‑ACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCtt < 2:839252/125‑1 (MQ=255) cTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTT‑T‑‑ACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCtt > 1:839252/1‑125 (MQ=255) tGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTT‑T‑‑ACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGt < 2:713843/103‑1 (MQ=255) tGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTT‑T‑‑ACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGt > 1:713843/1‑103 (MQ=255) gATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTT‑T‑‑ACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATa < 1:878542/149‑1 (MQ=255) gATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTT‑T‑‑ACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATa < 1:996883/149‑1 (MQ=255) gATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTT‑T‑‑ACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATa < 1:295519/149‑1 (MQ=255) gATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTT‑T‑‑ACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATa < 1:583940/149‑1 (MQ=255) tttAGCGTGATTTTGTAGGTCGGATAAGGCGTT‑T‑‑ACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACa > 2:1046708/1‑149 (MQ=255) gATTTTGTAGGTCGGATAAGGCGTT‑T‑‑ACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGt < 1:319926/149‑1 (MQ=255) gATTTTGTAGGTCGGATAAGGCGTT‑T‑‑ACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGt < 2:554756/149‑1 (MQ=255) gATTTTGTAGGTCGGATAAGGCGTT‑C‑‑ACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGt < 1:232772/149‑1 (MQ=255) tGTAGGTCGGATAAGGCGTT‑T‑‑ACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAAc < 2:737708/149‑1 (MQ=255) tGTAGGTCGGATAAGGCGTT‑T‑‑ACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAAc < 1:410175/149‑1 (MQ=255) tAGGTCGGATAAGGCGTT‑T‑‑ACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCa > 2:233143/1‑130 (MQ=255) tAGGTCGGATAAGGCGTT‑T‑‑ACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCa < 1:233143/130‑1 (MQ=255) gTCGGATAAGGCGTT‑T‑‑ACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAACCAGTg > 2:830433/1‑149 (MQ=255) gATAAGGTGTT‑T‑‑ACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAACCAGTGCAgc < 1:437452/149‑1 (MQ=255) gATAAGGCGTT‑T‑‑ACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAACCAGTGCAgc < 2:419177/149‑1 (MQ=255) aTAAGGCGTT‑T‑‑ACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCaaa > 2:402748/1‑93 (MQ=17) aTAAGGCGTT‑T‑‑ACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCaaa < 1:402748/93‑1 (MQ=17) aaGGCGTT‑T‑‑ACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAAATCTGTTTCAAACAGTGCAGCGcc < 2:499916/149‑1 (MQ=25) || CCGCATCCGACATCAACGCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTT‑T‑‑A‑‑CCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAACCAGTGCAGCGCC > NC_000913_3_hsa_tpiA/4296252‑4296499 |
| 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: ‑ |