Research Article

A Pilot Study Comparing HPV-Positive and HPV-Negative Head and Neck Squamous Cell Carcinomas by Whole Exome Sequencing

Table 3

Coding mutations in the HPV-positive tumor.

ChrPositionReference alleleTumor alleleZygositydbSNP IDRegionTypeGeneTranscript nameExonCDS positionProtein changeStansky*Agrawal**

1915789140AGHomors609290ExonicNonsynonymousCYP4F12NM_0239443c.A268Gp.I90VYes
1088946876GAHeteroExonicNonsynonymousFAM35ANM_0190548c.G2227Ap.D743N
351930850TCHomors57859638ExonicNonsynonymousIQCF1NM_1523973c.A169Gp.K57E
720180717CGHomors3735615ExonicNonsynonymousMACC1NM_1827627c.G2411Cp.R804TYes
1464882380AGHeterors1950902ExonicNonsynonymousMTHFD1NM_0059566c.A401Gp.K134R
7100634194CGHeteroExonicNonsynonymousMUC12NM_0011644622c.C350Gp.A117G
199006667AGHomors75101943ExonicNonsynonymousMUC16NM_02469044c.T39581Cp.I13194TYes
199074122TGHomoExonicNonsynonymousMUC16NM_0246903c.A13324Cp.T4442PYes
3195517753CTHeteroExonicNonsynonymousMUC4NM_0184062c.G698Ap.G233EYes
111017381GCHeterors34912894ExonicNonsynonymousMUC6NM_00596161c.C5420Gp.T1807SYes
1950865535AGHomors676314ExonicNonsynonymousNAPSANM_0048512c.T119Cp.I40T
4170345835GCHomoExonicNonsynonymousNEK1NM_00119939731c.C3091Gp.Q1031E
173195485CTHeteroExonicNonsynonymousOR3A1NM_0025501c.G392Ap.R131Q
398073075AGHeteroExonicNonsynonymousOR5K4NM_0010055171c.A378Gp.I126MYes
5140590766AGHomors2910006ExonicNonsynonymousPCDHB12NM_0189321c.A2287Gp.K763E
1227787878GAHeteroExonicNonsynonymousPPFIBP1NM_0011989164c.G100Ap.D34N
1543827261GCHeteroExonicNonsynonymousPPIP5K1NM_00119021430c.C3832Gp.H1278D
112853378TGHeterors112330886ExonicNonsynonymousPRAMEF1NM_0230132c.T2Gp.M1RYes
X135956575GAHeterors78646793ExonicNonsynonymousRBMXNM_0021399c.C902Tp.P301L
633272855GCHomors2071888ExonicNonsynonymousTAPBPNM_1722084c.C779Gp.T260R
1211183046CTHeteroExonicNonsynonymousTAS2R31NM_1768851c.G889Ap.V297M
1211213969AGHeterors2599402ExonicNonsynonymousTAS2R46NM_1768871c.T925Cp.S309PYes
3100084425TGHomoExonicNonsynonymousTOMM70ANM_01482012c.A1810Cp.K604QYes
9135277007CTHomors3739916ExonicNonsynonymousTTF1NM_0073442c.G1202Ap.R401QYes
1938378659ATHomoExonicNonsynonymousWDR87NM_0319516c.T5535Ap.N1845K
974975645CGHeteroExonicNonsynonymousZFAND5NM_0011024212c.G50Cp.G17A
12133732818CTHeteroExonicNonsynonymousZNF10NM_0153945c.C986Tp.S329F
1944933706CTHeterors57014690ExonicNonsynonymousZNF229NM_0145186c.G1250Ap.S417NYes
1957089050CTHeterors4801177ExonicNonsynonymousZNF470NM_0010016686c.C1253Tp.T418IYes
1952618497ATHeteroExonicNonsynonymousZNF616NM_1785234c.T1920Ap.N640KYes
271654175GAHomors1804020ExonicNonsynonymousZNF638NM_00125261224c.G5176Ap.V1726M
757528923GCHeteroExonicNonsynonymousZNF716NM_0011592794c.G756Cp.W252C

Chr: chromosome, *mutations present in Stransky et al., Science 2011 [7], **mutations present in Agrawal et al., Science 2011 [6], Homo: homozygous, Hetero: heterozygous.