Predicted mutation | |||||||
---|---|---|---|---|---|---|---|
evidence | seq id | position | mutation | freq | annotation | gene | description |
RA | NC_000913_3_hsa_pgi | 2,028,160 | G→C | 11.5% | intergenic (‑143/+28) | yedQ ← / ← yodC | putative membrane‑anchored diguanylate cyclase/uncharacterized protein |
Read alignment evidence... | |||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|
seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
* | NC_000913_3_hsa_pgi | 2,028,160 | 0 | G | C | 11.5% | 127.1 / 7.8 | 52 | intergenic (‑143/+28) | yedQ/yodC | putative membrane‑anchored diguanylate cyclase/uncharacterized protein |
Reads supporting (aligned to +/- strand): ref base G (23/21); new base C (3/3); total (26/26) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 8.22e-01 |
ACCCTGACGACTCCCAACCTGCTTTTTTATGATTCTGGCATAACCTGGCGATAGCGTACCGCAAAACAGCGATAATTTTATAATGGTGGCATGATAAGACGCGACTATCATTCATTGCAGGCATTAGCACACCAGGCCGGATGTGATCCGGCCTGATGTTAATGATACCCTTTCACACTTCTTCCGCAGAACGACTCCCCTCCCCCGGAACAAGCTCGGTTTCATGAAAAGCTTCCCGCTTGACCCCGTAACCGTCATACCAACGACACTCAACCATACCGCTG > NC_000913_3_hsa_pgi/2028016‑2028299 | aCCCTGACGACTCCCAACCTGCTTTTTTATGATTCTGGCATAACCTGGCGATAGCGTACCGCAAAACAGCGATAATTTTATAATGGTGGCATGATAAGACGCGACTATCATTCATTGCAGGCATTAGCACACCAGGCCGGATGTGATcc > 1:653313/1‑149 (MQ=255) cccTGACGACTCCCAACCTGCTTTTTTTTTTTTTTGTCATAACCTGGCGATAGCGTACCGCAAAACAGCGATAATTTTATAATGGTGGCATGATAAGACGCGACTATCATTCATTGCAGCCACTACCACACCATGCCGGATGTCATcag > 2:1000934/1‑147 (MQ=255) ccTGACGACTCCCAACCTGCTTTTTTATGATTCTGGCATAACCTGGCGATAGCGTACCGCAAATCTGAGATAAATTTATAATAGTGGCATGATAAAACGCGACTATACATCATTGTATGCATTAGCACACCAGGCCGGATGTGGTCAgg > 1:391900/1‑149 (MQ=255) cTGACGACTCGCAACCTGCTTTTTTATGATTCTGGAATAACCAGGCGATAGCGTAGCGCAAAACGACGATATTTTTATAATGGTGGCATGGTAATACGAGACTATAACAACGTGCAGGCACTAGCACACCAGGCAGGCTGTGATccctg > 2:100123/1‑146 (MQ=255) tGACGACTCCCAACCTGCTTTTTTATGATTCTGGCATAACCTGGCGATAGCGTACCGCAAAACAGCGATAATTTTATAATGGTGGCATGATAAGACGCGACTATCATTCATTGCAGGCATTAGCACATCAGGCCGGATCACATCCGGcc > 1:436233/1‑149 (MQ=255) cTCCCAACCTGCTTTTTTATGATTCTGGCATAACCTGGCGATAGCGTACCGCAAAACAGCGATAATTTTATAATGGTGGCATGATAAGACGCGACTATCATTCATTGCAGGCATTAGCACATCAGGCCGGATCACATCCGGCCTGgtgt < 2:436233/149‑1 (MQ=255) tCCCAACCTTCTTTTTTAGTATTCTGGCATAACCTGGCGATAGCGTACCGCAAAACAGCGATAATTTTATAATGGGGGCATGATAAGACGCGACTATCATTCATTGCAGGCATTAGCACACCAGGCCGGATCACATCCGGCCTGgtgtg < 2:552019/149‑2 (MQ=255) tCCCAACCTGCTTTTTTATGATTCTGGCATAACCTGGCGATAGCGTACCGCAAAACAGCGATAATTTTATAATGGTGGCATGATAAGACGCGACTATCATTCATTGCAGGCATTAGCACACCAGGCCGGATGTGATCCGGCCTGAt < 2:637142/146‑1 (MQ=255) tCCCAACCTGCTTTTTTATGATTCTGGCATAACCTGGCGATAGCGTACCGCAAAACAGCGATAATTTTATAATGGTGGCATGATAAGACGCGACTATCATTCATTGCAGGCATTAGCACACCAGGCCGGATGTGATCCGGCCTGAt > 1:637142/1‑146 (MQ=255) ccAACCTGCTTTTTTATTATTCTTGCATAACCTGGCGATAGTGTACCGCAAAACAGCGATAATTTTATAATGGTGGCATGATAAGACGCGACTATCATTCATCGAAGTCATGAGCACACCAGGCCGGATGTGATCCGGCCTGATGTTaa < 1:239397/149‑1 (MQ=255) ccAACCTGCTTTTTTATGATTCTGGCATAACCTGGCGATAGCGTACCGCAAAACAGCGATAATTTTATAATGGTGGCATGATAAGACGCGACTATCATTCATTGCAGGCATTAGCACACCAGGCCGGATGTGATCCGGCCTGATGTTaa < 1:238703/149‑1 (MQ=255) cAACCTGCTTTTTTATGATTCTGGCATAACCTGGCGATAGCGTACCGCAAAACAGCGATAATTTTATAATGGTGGCATGATAAGACGCGACTATCATTCATTGCAGGCATTAGCACACCAGGCCGGATGTGATCCGGCCTGATGTTAAt > 1:313626/1‑149 (MQ=255) aaCCTGCTTTTTTATGATTCTGGCATAACCTGGCGATATCGTACCGCAAAACAGCGATAATTTTATAATGGTGGCATGATAAGACTCGACTATCATTCATTGCAGGCATTAGCACACCAGGCCGGATGTGATCCGGCCTGATGTTACTg > 1:211590/1‑149 (MQ=255) ttttttATGATTCTGGCATAACCTGGCGATAGCGTACCGCAAAACAGCGATAATTTTATAATGGTGGCATGATAAGACGCGACTATCATTCATTGCAGGCATTAGCACACCAGGCCGAATGTGATCCGGCCTGATGTTAATGATACCCt > 1:519809/1‑149 (MQ=255) ttATGATTCTGGCATAACCTGGCGATAGCGTACCGCCAAACAGCGATAATTTTATAATGGTGGCATGATAAGACGCGACTATCATTCATTGCAGGCATTAGCACACCAGGCCGGATGTGATCCGGCCTGATGTTAATGATACCCTTTca > 1:993066/1‑149 (MQ=255) ttATGATTCTGGCATAACCTGGCGATAGCGTACCGCAAAACAGCGATAATTTTATAATGGTGGCATGATAAGACGCGATTATCATTCATTGCAGGCATTAGCACACCAGGCCGGATGTGATCCGGCCTGATGTTAATGATACCCTTTca < 2:474379/149‑1 (MQ=255) ttATGATTCTGGAATAACCTGGCGATAGCTTACCGCAAAACAGCGATAATTTTATAATGGTGGCATGATAAGACGCGACTATCATTCATTGCAGGCATTATCACACCAGGCCGGATGTGATCCGGCCTGATGTTAATGATACCCTTTca < 2:317900/149‑1 (MQ=255) aTTGTGGCATAACCTGGCGAGAGAGTACCGCAAAACAGCGATAATTGTATAATGGGGGCATGATAAGACGCGACTATTATTCTTTGCAGGCATTAGCACACCAGGCCGGCTATGGTACAACTTGATGTTAATGATACCCTTTCACActt < 2:468795/149‑1 (MQ=255) tGGCATAACCTGGCGATAGCGTACCGCAAAACAGCGATAATTTTATAATGGTGGCATGATAAGACGCGACTATCATTCATTGCAGGCATTAGCACACCAGGCCGGATGTGATCCGGCCTGATGTTAATGATACCCTTTCACACttcttc < 2:653313/149‑1 (MQ=255) cATAACCTGGCGATAGCGTACCGCAAAACAGCGATAATTTTATAATGGTGGCATGATAAGACGCGACTATCATTCATTGCAGGCATTAGCACACCAGGCCGGATGTGATCCGGCCTGATGTTAATGATACCCTTTCACACTTCTTCCGc > 2:538589/1‑149 (MQ=255) tGGCGATAGCGTACCGCAAAACAGCGATAATTTTATAATGGTGGCATGATAAGACGCGACTATCATTCATTGCAGGCATTAGCACACCAGGCCGGATGTGATCCGGCCTGATGTTAATGATACCCTTTCACACTTCTTCCGCCGAACGa > 1:668700/1‑149 (MQ=255) tGGCGATAGCGTACCGCAAAACAGCGATAATTTTATAATGGTGGCATGATAAGACGCGACTATCATTCATTGCAGGCATTAGCACACCAGGCCGGATGTGATCCGGCCTGATGTTAATGATACCCTTTCACACTTCTTCCGCAGAACGa > 1:667687/1‑149 (MQ=255) ggCTATAGCTTACCGCAAAACATTGATAATTTTATAATGGTGGCATGATAAGACGCGACTATCATTCATTGCAGGCATTAGCACACCAGGCCGGATGTGATCCGGCCTGATGTTAATGATACCCTTTCACACTTCTTCCGCAGAACGAc < 1:154768/149‑1 (MQ=255) gCGATAGCGTACCGCAAAACAGCGATAATTTTATAATGGTGGCATGATAAGACGCGACTATCATTCATTGCAGGCATTAGCACACCAGGCCGGAGTTGATCCGGCCTGATGTTAATGATACCCTTTCACACTTCTTCCGCAGAACGAct > 1:834969/1‑149 (MQ=255) tAGCGTACCGCAAAACAGCGATAATTTTATAATGGTGGCAAGATAAGACGCGACTATCATTCATTGCAGGCATTGGCACACCAGGCCGGATGTGATCCGGCCTGATGTTAATGCTACCCTTTCACACTTCTTCCGCAGAACGAatcccc > 2:80124/1‑149 (MQ=255) ccGCAAAACAGCGATAATTTGATAATGGTGGCATGATAAGACGCGACTATCATTCATTGCAGGCATTAGCACACCAGGCCGTATGTGATCCGGCCTGATGTTAATGATACCCTTTCACACTTCTTCCGTAGAACGACTCCCCTCCCCCg < 2:170372/149‑1 (MQ=255) aGCGATAATTTTATAATGGTGGCATGATAAGACGCGACTATCATTCATTGCAGGCATTAGCACACCAGGCCGGATGTGATCAGGCCTGATGTTAATGATACCATTGCACACTTCTTCCGCAGAACGACTCCCCTCCCCCGCAACAAGcg > 2:958842/1‑148 (MQ=255) gCGATAATTTTATAATGGTGGCATGATAAGACGCGACTATCATTCATTGCAGGCATTAGCACACCAGGCCGGATCACATCCGGCCTggt > 2:317588/1‑87 (MQ=38) gCGATAATTTTATAATGGTGGCATGATAAGACGCGACTATCATTCATTGCAGGCATTAGCACACCAGGCCGGATCACATCCGGCCTggt < 1:317588/89‑3 (MQ=38) cGATAGTTTTATAACGGGGGCATGATAAGACGCGACTATCATTCATTGCAGGCATTAGCACACCAGGCCGGATGTGATCCGGCCTGATGTTAATGATACCCTTTCACACTTCTTCCGCAGAACGACTCCCCTCCCCCGGAACAAGCTCg < 2:659634/149‑1 (MQ=255) cGATAATTTTATAATGGTGGCATGATAAGACGCGACTATCATTCATTGCAGGCATTAGCACACCAGGCCGGATGTGATCCGGCCTGATGTTAATGATACCCTTTCACACTTCTTCCGCAGAACGActcc > 2:727839/1‑129 (MQ=255) cGATAATTTTATAATGGTGGCATGATAAGACGCGACTATCATTCATTGCAGGCATTAGCACACCAGGCCGGATGTGATCCGGCCTGATGTTAATGATACCCTTTCACACTTCTTCCGCAGAACGActcc < 1:727839/129‑1 (MQ=255) ttttATAATGGTGGCATGATAAGACGCGACTATCATTCATTGCAGGCATTAGCACACCAGGCCGGATGTGATCCGGCCTGATGTTAATGATACCCTTTCACACTTCTTCCGCAGAACGACTCCCCTCCCCCGGAACAAGCTCGGTTTCa > 2:77156/1‑149 (MQ=255) tttATAATGGTGGCATGATAAGACGCGACTATCATTCATTGCAGGCATTAGCACACCAGGCCGGATGTGATCCGGTCTGATGTTAATGATACCCTTTCACACTTCTTCCGCAGAACGACTCCCCTCCCCCGGAACAAGCTCGGTTTCAt < 1:816509/149‑1 (MQ=255) tttATAATGGTGGCATGATAAGACGCGACTATCATTCATTGCAGGCATTAGCACACCAGGCCGGATGTGATCCGGCCTGATGTTAATGATACCCTTTCACACTTCTTCCGCAGAACGACTCCCCTCCCCCGGAACAAGCTCGGTTTCAt > 1:49187/1‑149 (MQ=255) tggCATCATAAGACGCGACTATCATTCACTGCAGTCATTAGCACACCAGGCCGGATGTTATCCGGCCTGATGTTAATGATACCCTTTCACACTTCTTCCGCAGAACGACTCCCCTCCCTCGTCACACTCTCGGTTTCATGAAAAGCTTc < 2:91481/149‑1 (MQ=255) tGATAAGACGCGACTATCATTCATTGCAGGCATTAGCACACCAGGCCGGATGTGATCCGGCCTGATGTTAATGATACCCTTTCACACTTCTTCCGCAGAACGa > 2:85611/1‑103 (MQ=255) tGATAAGACGCGACTATCATTCATTGCAGGCATTAGCACACCAGGCCGGATCTGATCCGGCCTGATGTTAATGATACCCTTTCACACTTCTTCCGCAGAACGa < 1:85611/103‑1 (MQ=255) aGACGCGACTATCATTCATTGCAGGCATTAGCACACCAGGCCGGATGTGATCCGGCCTGATGTTAATGATACCCTTTCACACTTCTTCCGCAGAACGACTCCCCTCCCCCGGAACAAGCTCGGTTTCATGAAAAGCTTCCCGCTTGAcc < 2:313626/149‑1 (MQ=255) aTCATTCATTGCAGGCATTAGCACACCAGGCCGGATGTGATCCGGCCTGATGTTAATGATACCCTTTCACACTTCTTCCGCAGAACGACTCCCCTCCCCCGGAACAAGCTCGGTTTCATGAAAAGCTTCCCGCTTGACCCCGTAACCGt < 1:77156/149‑1 (MQ=255) ttcattGCAGCCATTAGAACACCACGCCGGAGGTGATACGGCCTGATGTTAATGACACCCTTTCACACTTCTTCTGCAGAACGACTCCCCTCCCCTGGAACAAGCTCGGTTTCATGAAAAGCTTCCCGCTTGACCGCGTAACCGTCATa < 2:950840/149‑1 (MQ=255) cgCATTAGCATCCCAGTCCGGATGTGATCCGGCCTGATGTTAATGATACCCTTTCACACTTCTTCCGCAGAACGACTCCCCTCCCCCGGAACAAGCTCGGTTTCATGAAAAGCTTCCCGCTTGACCCCGTAACCGTCATACCAACGaca < 2:754049/148‑1 (MQ=255) gCATTAGCACACCAGGCCGGATGTGATCCGGCCTGATGTTAATGATACCCTTTCACACTTCTTCCGCAGAACGACTCCCCTCCCCCGGAACAAGCTCGGTTTCATGAAAAGCTTCCCGCTTGACCCCGTAACCGTCATACCAACGacac < 2:49187/149‑1 (MQ=255) tAGCACACCAGGCCGGATGTGATCCGGCCTGATGTTAATGATACCCTTTCACACTTCTTCCGCAGAACGACCCCCCGCCCCCGGAACAAGCTCGGTTTCATGAAAAGCTTCCCGCTTGACCCCGTAACCGTCATACCAACGACACTCaa < 1:390602/149‑1 (MQ=255) cacaCCAGGCCGGATGTGATCCGGCCTGATGTTAATGATACCCTTTCACACTTCTTCCGCAGAACGACTCCCCTCCCCCGGAACAAGCTCGGTTTCATGAAAAGCTTCCCGCTTGACCCCGTAACCGTCATACCAACGACACTCAACCa < 2:992415/149‑1 (MQ=255) cacCAGGCCGGATGTGATCCGGCCTGATGTTAATGATACCCTTTCACACTTCTTCCGCAGAACGACTCCCCTCCCCCGGAACAAGCTCGGTTTCATGAAAAGCTTCCCGCTTGACCCCGTAACCGTCATACCAACGACACTCAACCATa > 2:312079/1‑149 (MQ=255) acCAGGCCGGATGTGATCCGGCCTGATGTTAATGATACCCTTTCACACTTCTTCCGCAGAACGACTCCCCTCCCCCGGAACAAGCTCGGTTTCATGAAAAGCTTCCCGCTTGACCCCGTAACCGTCATACCAACGACACTCAACCATAc > 2:445254/1‑149 (MQ=255) acCAGGCCGGATGTGATCCGGCCTGATGTTAATGATACCCTTTCACACTTCTTCCGCAGAACGACTCCCCTCCCCCGGAACAAGCTCGGTTTCATGAAAAGCTTCCCGCTTGACCCCGTAACCGTCATACCAACGACACTCAACCATAc > 1:515325/1‑149 (MQ=255) cAGGCCGGATGTGATCCGGCCTGATGTTAATGATACCCTTTCACACTTCTTCCGCAGAACGACGCCCCTCCCCCGGAACAAGCTCGGTTTCATGAAAAACTTCCCGCTTGACCCCGTAACCGACATACCAACGACACTCAACAATACCg > 1:446238/1‑149 (MQ=255) ggcGGATGATATCCGGCCTGATGTAAATGATATCCTTTCTCACTTCTTCCGCAGAACGACTCCCCTCCCCCGGAACAAGCTCGGTTTCATGAAAAGCTTCACGCTTGACCCCGTAACCGTCATACCAACGACACTCAACCATACCGATg < 2:13572/147‑1 (MQ=255) gCCGGATGTGATCCGGCCTGATGTTAATGATACCCTTTCACACTTCTTCCGCAGAACGACTCCCCTCCCCCGGAACAAGCTCGGTTTCATGAAAAGCTTCCCGCTTGACCCCGTAACCGTCATACCAACGACACTCAACCATACCGCTg < 1:445254/149‑1 (MQ=255) gCCGGATGTGATCCGGCCTGATGTTAATGATACCCTTTCACACTTCTTCCGCAGAACGACTCCCCTCCCCCGGAACAAGCCCGGTTTCATGAAAAGCTTCCCGCTTGACCCCGTAACCATCATACCAACGACACTCAACCATACCACTg > 1:56301/1‑149 (MQ=255) | ACCCTGACGACTCCCAACCTGCTTTTTTATGATTCTGGCATAACCTGGCGATAGCGTACCGCAAAACAGCGATAATTTTATAATGGTGGCATGATAAGACGCGACTATCATTCATTGCAGGCATTAGCACACCAGGCCGGATGTGATCCGGCCTGATGTTAATGATACCCTTTCACACTTCTTCCGCAGAACGACTCCCCTCCCCCGGAACAAGCTCGGTTTCATGAAAAGCTTCCCGCTTGACCCCGTAACCGTCATACCAACGACACTCAACCATACCGCTG > NC_000913_3_hsa_pgi/2028016‑2028299 |
Alignment Legend |
---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 13 ≤ ATCG/ATCG < 27 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |