Predicted mutation
evidence seq id position mutation freq annotation gene description
RA Exported 2,919,483 A→G 30.2% G71G (GGT→GGC argI ← ornithine carbamoyltransferase 1

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*Exported2,919,4830AG30.2% 179.6 / 103.8 139G71G (GGT→GGCargIornithine carbamoyltransferase 1
Reads supporting (aligned to +/- strand):  ref base A (40/57);  new base G (32/10);  total (72/67)
Fisher's exact test for biased strand distribution p-value = 1.87e-04
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 7.72e-01

Only 100 of 142 total aligned reads displayed.

GGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGAAGATGAGCGCG  >  Exported/2919414‑2919552
                                                                     |                                                                     
  cggtgtCCTTAATTGACTCTTTATGCCCAATCTGGCTGCCGCTCGGCCCTAAATAGGTAACGCGCGCGccc                                                                    <  1:1362944/69‑1 (MQ=255)
   aGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCt                                                                   <  1:4949510/71‑1 (MQ=255)
     tgtCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCAcc                                                                     <  1:5352630/67‑1 (MQ=255)
       tccttAATTGACTCTTTATGCCCAATCTGGCTGCCGCTCGGCCATAAATAGGTACCGCGCGCGCCCTGGt                                                                >  1:5591149/4‑70 (MQ=255)
       tCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCa                                                                       <  1:4228580/63‑1 (MQ=255)
         cttAATTGACTCTTTATGCCCAATCTGGCTGCCGCTCGGCCCTAAATAGGTAACGCGCGCGCCCTGGTCa                                                              >  1:228556/2‑70 (MQ=255)
           tAATTGACTCTTTATGCCCAATCTGGCTGCCGCTCGGCCCTAAATAGGTAACGCGCGCGCCCTGGTCaaat                                                           >  1:5364924/1‑71 (MQ=255)
           tAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCatat                                                           >  1:4699447/1‑71 (MQ=255)
           tAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCa                                                              <  1:4431115/68‑1 (MQ=255)
             aTCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGt                                                                >  1:5045680/1‑64 (MQ=255)
              ttgACTCTTTATGCCCAATCTGGCTGCCGCTCGGCCCTAAATAGGTAACGCGCGCGCCCTGGTCAAATGCg                                                        >  1:1819107/3‑71 (MQ=255)
              tCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCa                                                              <  1:2831777/65‑1 (MQ=255)
                gACTCTTTATGCCCAATCTGGCTGCCGCTCGGCCCTAAATAGGTAACGCGCGCGCCCTGGTCAAATGCg                                                        >  1:717621/1‑69 (MQ=255)
                gACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGc                                                      <  1:218339/71‑1 (MQ=255)
                 aCTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCAccc                                                                    <  1:2929451/56‑1 (MQ=255)
                 aCTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCAccc                                                                    <  1:136070/56‑1 (MQ=255)
                 aCTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCAccc                                                                    <  1:3902671/56‑1 (MQ=255)
                 aCTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCa                                                     <  1:3390358/71‑1 (MQ=255)
                   tctTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCa                                                              <  1:2669303/60‑1 (MQ=255)
                      ttATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCAcc                                                                     >  1:3580523/1‑50 (MQ=255)
                      ttATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTc                                                >  1:2903921/1‑71 (MQ=255)
                      ttATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTc                                                >  1:153013/1‑71 (MQ=255)
                       tATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCt                                                                   >  1:145437/1‑51 (MQ=255)
                       tATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCaa                                                    >  1:5332485/1‑66 (MQ=255)
                       tATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTc                                                >  1:3174424/1‑70 (MQ=255)
                       tATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTc                                                <  1:694644/70‑1 (MQ=255)
                         tgcccAATCTGGCTGCCGCTCGGCCCTAAATAGGTAACGCGCGCGCCCTGGTCAAATGCGGCAACTTCGa                                              <  1:280392/67‑1 (MQ=255)
                         tgcccAATCTGGCTGCCGCTCGGCCCTAAATAGGTAACGCGCGCGCCCTGGTCAAATGCGGCAACTTCGa                                              <  1:3845007/67‑1 (MQ=255)
                         tGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGa                                              <  1:3818374/70‑1 (MQ=255)
                         tGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGa                                              <  1:2969478/70‑1 (MQ=255)
                          gACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGa                                              <  1:3811750/69‑1 (MQ=255)
                          gACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGa                                              <  1:207597/69‑1 (MQ=255)
                           aCCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTc                                                <  1:2384455/66‑1 (MQ=255)
                           aCCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTc                                                <  1:4730925/66‑1 (MQ=255)
                             cAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGaaa                                            >  1:5187240/1‑68 (MQ=255)
                             cAATCTGGCTGCCGCTCGGCCCTAAATAGGTAACGCGCGCGCCCTGGTCAAATGCggaa                                                     >  1:4806502/1‑57 (MQ=255)
                             cAATCTGGCTGCCGCTCGGCCCTAAATAGGTAACGCGCGCGCCCTGGTCAAATGCGGCaa                                                    >  1:2786265/1‑60 (MQ=255)
                              aaTCTGGCTGCCGCTCGGCCCTAAATAGGTAACGCGCGCGCCCTGGTCAAATGCGGCAACTTCGAAagag                                         >  1:4736921/1‑70 (MQ=255)
                               aTCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCa                                       >  1:397055/1‑71 (MQ=255)
                               aTCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCa                                       >  1:3479276/1‑71 (MQ=255)
                                tCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGaaa                                            <  1:5384988/65‑1 (MQ=255)
                                 cTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCg                                                        >  1:1385077/1‑52 (MQ=255)
                                 cTGGCTGCCGCTCGGCCCTAAATAGGTAACGCGCGCGCCCTGGTCAAATGCGGCAACTTCGAAAGAGCaac                                     >  1:5124203/1‑69 (MQ=255)
                                  tGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCg                                    >  1:1763425/1‑71 (MQ=255)
                                  tGGCTGCCGCTCGGCCCTAAATAGGTAACGCGCGCGCCCTGGTCAAATGCGGCAACTTCGAAAGAGCAACg                                    >  1:302305/1‑71 (MQ=255)
                                    tcTGCCGCTCGGCCCTAAATAGGTAACGCGCGCGCCCTGGGCAAATGCGGCAACTTCGAAAGAGCaac                                     <  1:227589/67‑3 (MQ=255)
                                    gCTGCCGCTTGTGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCggg                                  <  1:2123353/71‑1 (MQ=255)
                                    gCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATc                                     <  1:2610503/68‑1 (MQ=255)
                                    gCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCggg                                  <  1:1695333/71‑1 (MQ=255)
                                    gCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCgg                                   <  1:4551957/70‑1 (MQ=255)
                                    gCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCgg                                   <  1:3465091/70‑1 (MQ=255)
                                     cTGCCGCTCGGCCCTAAATAGGTAACGCGCGCGCCCTGGTCAAATGCGGCAACTTCGAAaga                                          >  1:4036508/1‑62 (MQ=255)
                                       gCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTa                                >  1:3230002/1‑70 (MQ=255)
                                        ccGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCa                                                              <  1:1307294/39‑1 (MQ=255)
                                        ccGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCa                                                              <  1:1003907/39‑1 (MQ=255)
                                         cGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTa                                >  1:751527/1‑68 (MQ=255)
                                         cGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTAcga                             <  1:1587703/71‑1 (MQ=255)
                                           cTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTAcgagt                           >  1:1326477/1‑71 (MQ=255)
                                              gggCCGAGTTAAGTAACGCGAGCACCCTGGTCATATGCCGCAACTTCGAAAGAGCATCGGGTAcgagtcg                         <  1:5222055/70‑1 (MQ=255)
                                              gggCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTAcgagtc                          <  1:685737/69‑1 (MQ=255)
                                              gggCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTAcgagtc                          <  1:4282139/69‑1 (MQ=255)
                                               ggCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTAcgagtc                          <  1:3089739/68‑1 (MQ=255)
                                                gCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGa                                              <  1:1302183/47‑1 (MQ=255)
                                                  cGAGATAAGTAACGCGAGCACCGTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCt                    <  1:3426440/71‑1 (MQ=255)
                                                  cGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGa                                              <  1:5400427/45‑1 (MQ=255)
                                                    aaaTAGGTAACGCGCGCGCCCTGGTCAAATGCGGCAACTTCGAAAGAGCAACGGGTAc                               <  1:1668361/56‑1 (MQ=255)
                                                    aaaTAGGTAACGCGCGCGCCCTGGTCAAATGCGGCAACTTCGAAAGAGCAACGGGTAc                               <  1:1392408/56‑1 (MQ=255)
                                                    aaaTAGGTAACGCGCGCGCCCTGGTCAAATGCGGCAACTTCGAAAGAGCAACGGGTAc                               <  1:465784/56‑1 (MQ=255)
                                                    aaaTAGGTAACGCGCGCGCCCTGGTCAAATGCGGCAACTTCGAAAGAGCAACGGGTACGAGTCGAGTCttt                  >  1:3576672/3‑71 (MQ=255)
                                                     gaTAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTAcgagtcga                        >  1:887751/1‑64 (MQ=255)
                                                     gaTAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCtttt                 <  1:4420153/71‑1 (MQ=255)
                                                     aaTAGGTAACGCGCGCGCCCTGGTCAAATGCGGCAACTTCGAAAGAGCAACGGGTACGAGTCGAGTCtttt                 >  1:3430912/2‑71 (MQ=255)
                                                     aaTAGGTAACGCGCGCGCCCTGGTCAAATGCGGCAACTTCGAAAGAGCAACGGGTACGAGTCGAGTCtttt                 >  1:234508/2‑71 (MQ=255)
                                                     aaTAGGTAACGCGCGCGCCCTGGTCAAATGCGGCAACTTCGAAAGAGCAACGGGTACGAGTCGAGTCttt                  <  1:3762245/69‑1 (MQ=255)
                                                      aTAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCg                                               <  1:676513/40‑1 (MQ=255)
                                                      aTAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCg                                               <  1:329878/40‑1 (MQ=255)
                                                       taggTAACGCGCGCGCCCTGGTCAAATGCGGCAACTTCGAAAGAGCAACGGGTACGAGTCGAGTCTTTTTc               >  1:3678306/4‑71 (MQ=255)
                                                        aggTAACGCGCGCGCCCTGGTCAAATGCGGCAACTTCGAAAGAGCAACGGGTACGAGTCGAGTCtttt                 >  1:2723965/3‑68 (MQ=255)
                                                         aGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCg              <  1:5149346/70‑1 (MQ=255)
                                                         aGTAACGCGAGCACCATGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTAcgagtc                          <  1:3956849/58‑1 (MQ=255)
                                                         aGTAACGCGAGCACCATGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTAcgagtc                          <  1:274060/58‑1 (MQ=255)
                                                          gTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCtttttag              >  1:3370418/1‑67 (MQ=255)
                                                          gTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCttt                  <  1:892911/65‑1 (MQ=255)
                                                          gTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCttt                  <  1:1094189/65‑1 (MQ=255)
                                                          gTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCttt                  <  1:3269978/65‑1 (MQ=255)
                                                           tAACGCGCGCGCCCTGGTCAAATGCGGCAACTTCGAAAGAGCAACGGGTa                                >  1:4805761/1‑50 (MQ=255)
                                                           tAACGCGCGCGCCCTGGTCAAATGCGGCAACTTCGAAAGAGCAACGGGTa                                >  1:2063531/1‑50 (MQ=255)
                                                           tAACGCGAGCACCGTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTc               >  1:3337491/1‑67 (MQ=255)
                                                           tAACGCGAGCACCCTGGTCATATGCGGCAACTTCGa                                              <  1:5377826/36‑1 (MQ=255)
                                                           tAACGCGAGCACCCTGGTCATATGCGGCAACTTCGa                                              <  1:771263/36‑1 (MQ=255)
                                                             aCGCGCGCGCCCTGGTCAAATGCGGCAACTTCGAAAGAGCAACGGGTACGAGTCGAGTCTTTTTCGAAGAt         <  1:495332/71‑1 (MQ=255)
                                                             aCGCGAGCACCCTGGTCATATGCGTCAACTTCGAAAGAGCATCTGGTAc                               >  1:2053851/1‑49 (MQ=39)
                                                             aCGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTAcga                             >  1:2468374/1‑51 (MQ=255)
                                                             aCGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGAAGa          >  1:3640181/1‑70 (MQ=255)
                                                                 gAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTAcgagtcg                         <  1:3494316/51‑1 (MQ=255)
                                                                 gAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGaa            >  1:4629004/1‑64 (MQ=255)
                                                                  aGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCt                    <  1:5239119/55‑1 (MQ=255)
                                                                   gCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCg              >  1:1859077/1‑60 (MQ=255)
                                                                   gCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGa             >  1:4083512/1‑61 (MQ=255)
                                                                     aCCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGAAGATGAGcgcg  <  1:4041117/70‑1 (MQ=255)
                                                                     |                                                                     
GGCAGTGTCTTTAATCGACTCTTTATGACCAATCTGGCTGCCGCTTGGGCCGAGATAAGTAACGCGAGCACCCTGGTCATATGCGGCAACTTCGAAAGAGCATCGGGTACGAGTCGAGTCTTTTTCGAAGATGAGCGCG  >  Exported/2919414‑2919552

Alignment Legend
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 14 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 36 ≤ ATCG/ATCG
Unaligned base: atcg    Masked matching base: atcg    Alignment gap:     Deleted base: