Predicted mutation
evidence	seq id	position	mutation	annotation	gene	description
RA	NC_000913_3_hsa_tpiA	4,111,530	+T	intergenic (+845/+67)	cdh → / ← yiiQ	CDP‑diacylglycerol phosphotidylhydrolase/DUF1454 family putative periplasmic protein

Read alignment evidence...
	seq id	position		ref	new	freq	score (cons/poly)	reads	annotation	genes	product
*	NC_000913_3_hsa_tpiA	4,111,530	1	.	T	98.0%	161.0 / ‑3.9	50	intergenic (+845/+67)	cdh/yiiQ	CDP‑diacylglycerol phosphotidylhydrolase/DUF1454 family putative periplasmic protein
Reads supporting (aligned to +/- strand):  ref base . (1/0);  new base T (24/25);  total (25/25)
Fisher's exact test for biased strand distribution p-value = 1.00e+00
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.97e-01

ACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGC‑C‑GCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAGCCCCTT  >  NC_000913_3_hsa_tpiA/4111389‑4111668                                                                                                                                                |                                                                                                                                           aCCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTCCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGAC‑CTGCCCCg                                                                                                                                      >  1:548387/1‑149 (MQ=255)  ccTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGGGCGCCATTTTAATTCTCCAAGCTTATAAGCGAATAAAGGAAGATGGC‑CTGCCCCGc                                                                                                                                     >  2:679749/1‑149 (MQ=255)   cTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGC‑CTGCCCCGCa                                                                                                                                    <  2:718749/149‑1 (MQ=255)    ttGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGC‑CTGCCCCGCAg                                                                                                                                   >  2:47884/1‑149 (MQ=255)      ggCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGC‑CTGCCCCGCAggg                                                                                                                                 <  2:308826/149‑1 (MQ=255)        ccGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGC‑CTGCCCCGCAGGgca                                                                                                                               >  1:313609/1‑149 (MQ=255)           cggtCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTCCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTTGAGGGCGCCATTTTAATTCTCCACGCATAGAAGCGAATAAAGGAAGATGGC‑CTGCCCCGCAGGgcagca                                                                                                                            <  1:669239/146‑1 (MQ=255)           cgTTCAGAGTGCCGATGAGCGCCCCCAGACTCTGGTTCCGCCCGTTCATCTTCCAGTTTCCCCTAACGAAGAACTTCCTGGAGGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGC‑CTGCCCTGCGGGgcaggc                                                                                                                            <  1:752780/149‑3 (MQ=255)              ttagagTGCCGATGCGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGC‑CTGCCCCGCAGGGCAGCAGGt                                                                                                                         <  1:454318/147‑1 (MQ=255)                  agTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATCAAGGAAGATGGC‑CTGCCCCGCAGGGCAGCAGGTCtgt                                                                                                                     <  1:811977/149‑1 (MQ=255)                  agTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGC‑CTGCCCCGCAGGGCAGCAGGTCtgt                                                                                                                     <  2:14796/149‑1 (MQ=255)                      ccGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGC‑CTGCCCCGCAGGGCAGCAGGTCTGTGaaa                                                                                                                 <  1:50220/149‑1 (MQ=255)                      ccGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGC‑CTGCCCCGCAGGGCAGCAGGTCTGTGaaa                                                                                                                 <  2:737520/149‑1 (MQ=255)                      ccGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGC‑CTGCCCCACAGGGCAGCAGGCCTGTGaaa                                                                                                                 >  2:631952/1‑149 (MQ=255)                        gATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGC‑CTGCCCCGCAGGGCAGCAGGTCTGTGAAACa                                                                                                               <  2:313609/149‑1 (MQ=255)                                cccccAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGC‑CTGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATagag                                                                                                       <  1:501283/149‑1 (MQ=255)                                  cccAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGC‑CTGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGAt                                                                                                     >  2:60470/1‑149 (MQ=255)                                   ccAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGC‑CTGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGAtt                                                                                                    >  2:751313/1‑149 (MQ=255)                                    gaGACTCTGCGTCCGGCCGGTTGTCTTCCTGTGTCCCCCAGCGGAGGACTTCCTGGAGGGCGCCGTTTTAATTCTCCTCGCTTATAAGCGAATAAAGGAAGATGGC‑CTGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTc                                                                                                   <  2:451369/148‑1 (MQ=255)                                               tCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGC‑CTGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACaaa                                                                                        <  1:92087/149‑1 (MQ=255)                                                  gCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGGGCGCCATTTTAATTCTCCACGCTTCTAAGCGAATAAAGGAAGATGGCAT‑GCACCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCAACGGCACAAACgc                                                                                     >  2:17260/1‑149 (MQ=255)                                                         cATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGC‑CTGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGgctttgctt                                                                              >  1:476053/1‑149 (MQ=255)                                                           tCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGC‑CTGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCtttt                                                                            <  1:751313/149‑1 (MQ=255)                                                            cTTCCAGTTTCCCTCATCGAAGAACCTCCTGGGGGGCGGCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGC‑CTGACCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCttttt                                                                           <  1:821063/149‑1 (MQ=255)                                                            cTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGGGCGCCATTTTAATGCTCCCCGCTTATAAGCGAATAAAGGAAGATGGC‑CTGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACGAAGGCTTTGCttttt                                                                           >  1:743187/1‑149 (MQ=255)                                                               ccAGTTTCCCCCAACGAAGAACTTCCTGGAGGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGC‑CTGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGAtt                                                                                                    >  1:243987/1‑121 (MQ=255)                                                               ccAGTTTCCCCCAACGAAGAACTTCCTGGAGGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGC‑CTGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGAtt                                                                                                    <  2:243987/121‑1 (MQ=255)                                                                 aGTTTCCCCCAACGAAGAACTTCCTGGAGGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGC‑CTGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCAt                                                                      >  2:777266/1‑149 (MQ=255)                                                                         ccAACGAAGAACTTCCTGGAGGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGC‑CTGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAAAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCaa                                                              >  1:98597/1‑149 (MQ=255)                                                                         ccAACGAAGAACTTCCGTGAGGTCGCGATTTTAATTCTCCGCGCGTATAAGCGAATAAAGGAAGATGGC‑CTGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCaa                                                              <  2:739601/149‑1 (MQ=255)                                                                          cAACGAAGAACTTCCTGGAGGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGC‑CTGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGCTTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCaaa                                                             >  2:533557/1‑149 (MQ=255)                                                                           aaCGAAGAACTTCCTGGAGGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGC‑CTGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAGGGCTTTGCTTTTTGTCATTTATTCAAAc                                                            >  1:469611/1‑149 (MQ=255)                                                                            aCGAAGAACTTCCTGGAGGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGC‑CTGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCaaa                                                             >  2:299358/1‑147 (MQ=255)                                                                            aCGAAGAACTTCCTGGAGGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGC‑CTGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCaaa                                                             <  1:299358/147‑1 (MQ=255)                                                                              ggaggtcTTCCTGGAGGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGC‑CTGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCtt                                                         >  2:648866/7‑149 (MQ=255)                                                                                     ttCCTGGAGGGATGCATTTTAATTCTCCACGCTTATAAGCTACTGAAGGAAGATGGC‑CTGACCCGCAGGGCAGCAGGTCTGTCAAACAGTATATAGATTCATCGGCACAAAGGCATTGCTTTTTGTCATTGATTCGAACCTTCAAGCGa                                                  <  2:669330/149‑1 (MQ=255)                                                                                     ttCATGGAGGGCGCCATTTTAATGCTCCACGCTTACAAGCGAATAAAGGAAGATGGC‑CTGCTCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGa                                                  <  2:38839/149‑1 (MQ=255)                                                                                     ctCCTGGAGGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGC‑CTGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGa                                                  <  1:101229/148‑1 (MQ=255)                                                                                          ggAGGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGC‑CTGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAg                                             >  1:676003/1‑149 (MQ=255)                                                                                           gAGGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGC‑CTGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGa                                            >  1:97204/1‑149 (MQ=255)                                                                                                 gcCATTTTAATCCTCCACGCTTATAAGCGAATAAAGGAAGATGGC‑CTGCCCAGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAgcgc                                      <  2:424154/149‑1 (MQ=255)                                                                                                             ctcAACGCTTATATGCGAATAAAGGAAGATGGC‑CTGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCgg                          >  2:78868/1‑149 (MQ=255)                                                                                                                 aCGCTTATAAGCGAATAAAGGAAGATGGC‑CTGCCCCGCCGGGCAGCAGGTCTGTGAAACAGTATAGAGGTTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTTAGATAGCGCCAGCTTGATCGGTTCa                      >  2:435693/1‑149 (MQ=255)                                                                                                                 aCGCTTATAAGCGAATAAAGGAAGATGGC‑CTGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGCCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCa                      >  1:349023/1‑149 (MQ=255)                                                                                                                           gCGAATAAAGGAAGATGGC‑CTGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCCGCTTAATCGGTTCAACAGCGAAgg            >  1:755644/1‑149 (MQ=255)                                                                                                                           gCGAATAAAGGAAGATGGC‑CTGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAgg            >  2:547393/1‑149 (MQ=255)                                                                                                                                tAAAGGAAGATGGC‑CTGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCaac       <  1:833505/149‑3 (MQ=255)                                                                                                                                  aaGGAAGATGGC‑CTGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAAccc     <  2:538614/149‑1 (MQ=255)                                                                                                                                     gAAGATGGC‑CTGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCtt  <  1:251449/149‑1 (MQ=255)                                                                                                                                     gAAGATGGC‑CTGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGGTCAACAGCGAAGGTCAACCCCtt  >  2:808179/1‑149 (MQ=255)                                                                                                                                                |                                                                                                                                           ACCTTGGCCGCGTTCAGAGTGCCGATGAGCTCCCCCAGACTCTGCTTCCGCCCGTTCATCTTCCAGTTTCCCCCAACGAAGAACTTCCTGGAGGGCGCCATTTTAATTCTCCACGCTTATAAGCGAATAAAGGAAGATGGC‑C‑GCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAGCCCCTT  >  NC_000913_3_hsa_tpiA/4111389‑4111668

Alignment Legend
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 13 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG
Unaligned base: atcg    Masked matching base: atcg    Alignment gap: ‑    Deleted base: ‑