Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	pox	qox	isArtifactMode	oxoGCut
KLHL17	339451	broad.mit.edu	37	1	899313	899313	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr1:899313G>A	uc001aca.1	+	9	1476	c.1369G>A	c.(1369-1371)GAC>AAC	p.D457N	KLHL17_uc001acc.1_RNA|PLEKHN1_uc001acd.2_5'Flank|PLEKHN1_uc001acf.2_5'Flank|PLEKHN1_uc001ace.2_5'Flank	NM_198317	NP_938073	Q6TDP4	KLH17_HUMAN	kelch-like 17	457	Interaction with F-actin (By similarity).|Kelch 3.				actin cytoskeleton organization	actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane	protein complex scaffold				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TGAACGCTACGACCCCCTGAC	0.687		NA											32	113					0	0	0	0
CDK11B	984	broad.mit.edu	37	1	1573159	1573159	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr1:1573159G>A	uc001agv.1	-	17	1540	c.1429C>T	c.(1429-1431)CTC>TTC	p.L477F	CDK11B_uc009vkj.2_Missense_Mutation_p.L134F|CDK11B_uc001ags.1_Missense_Mutation_p.L335F|CDK11B_uc001agt.1_Missense_Mutation_p.L260F|CDK11B_uc001aha.1_Missense_Mutation_p.L443F|CDK11B_uc001agw.1_Missense_Mutation_p.L432F|CDK11B_uc001agy.1_Missense_Mutation_p.L475F|CDK11B_uc001agx.1_Missense_Mutation_p.L466F|CDK11B_uc001agz.1_Missense_Mutation_p.L221F	NM_033486	NP_277021	P21127	CD11B_HUMAN	cell division cycle 2-like 1 (PITSLRE proteins)	490	Protein kinase.				apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding			skin(1)	1						TGGGCCTTGAGGATGGTGTTG	0.567		NA											39	195					0	0	0	0
RPL22	6146	broad.mit.edu	37	1	6253065	6253065	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr1:6253065A>G	uc001amd.2	-	3	213	c.167T>C	c.(166-168)CTT>CCT	p.L56P	RPL22_uc001ame.2_Missense_Mutation_p.L56P	NM_000983	NP_000974	P35268	RL22_HUMAN	ribosomal protein L22 proprotein	56					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	heparin binding|RNA binding|structural constituent of ribosome				0	Ovarian(185;0.0634)	all_cancers(23;2.78e-38)|all_epithelial(116;8.88e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.53e-38)|GBM - Glioblastoma multiforme(13;3.33e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.8e-19)|Colorectal(212;6.8e-08)|COAD - Colon adenocarcinoma(227;8.04e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		CCCTCCACCAAGGTTCCCAGC	0.468		NA	T	RUNX1	AML|CML								9	61					0	0	0	0
KDM1A	23028	broad.mit.edu	37	1	23385657	23385657	+	Silent	SNP	A	A	G			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr1:23385657A>G	uc001bgi.2	+	8	1253	c.1104A>G	c.(1102-1104)CAA>CAG	p.Q368Q	KDM1A_uc001bgj.2_Silent_p.Q388Q	NM_015013	NP_055828	O60341	KDM1A_HUMAN	lysine-specific histone demethylase 1 isoform b	368	Demethylase activity.				blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding			ovary(1)|lung(1)	2						CCAACGGACAAGCTGTAAGTC	0.368		NA											3	14					0	0	0	0
CLIC4	25932	broad.mit.edu	37	1	25153564	25153564	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr1:25153564A>C	uc001bjo.2	+	4	657	c.372A>C	c.(370-372)AAA>AAC	p.K124N	CLIC4_uc001bjn.2_RNA|CLIC4_uc001bjp.1_Missense_Mutation_p.K104N	NM_013943	NP_039234	Q9Y696	CLIC4_HUMAN	chloride intracellular channel 4	124	GST C-terminal.				cellular response to calcium ion|establishment or maintenance of apical/basal cell polarity|keratinocyte differentiation|negative regulation of cell migration|regulation of cytoskeleton organization	actin cytoskeleton|apical part of cell|cell surface|cell-cell junction|centrosome|chloride channel complex|cytoplasmic vesicle membrane|cytosol|microvillus|midbody|mitochondrion|nuclear matrix|perinuclear region of cytoplasm|soluble fraction	voltage-gated chloride channel activity				0		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000778)|all_lung(284;0.00106)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0479)|OV - Ovarian serous cystadenocarcinoma(117;1.06e-24)|Colorectal(126;1.03e-07)|COAD - Colon adenocarcinoma(152;4.93e-06)|STAD - Stomach adenocarcinoma(196;0.000418)|GBM - Glioblastoma multiforme(114;0.000451)|BRCA - Breast invasive adenocarcinoma(304;0.00215)|KIRC - Kidney renal clear cell carcinoma(1967;0.00216)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.18)		TCTTTGCCAAATTCTCTGCAT	0.348		NA											30	120					0	0	0	0
ELAVL4	1996	broad.mit.edu	37	1	50666796	50666796	+	Silent	SNP	G	G	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr1:50666796G>T	uc001csb.2	+	7	1357	c.1089G>T	c.(1087-1089)CTG>CTT	p.L363L	ELAVL4_uc001cry.3_Silent_p.L352L|ELAVL4_uc001crz.3_Silent_p.L349L|ELAVL4_uc001csa.3_Silent_p.L366L|ELAVL4_uc001csc.3_Silent_p.L349L|ELAVL4_uc010omz.1_Silent_p.L354L	NM_021952	NP_068771	P26378	ELAV4_HUMAN	ELAV-like 4 isoform 1	363	RRM 3.				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			ovary(1)|pancreas(1)	2						GGTACCGCCTGGGAGACAGAG	0.448		NA											15	30					1.15e-07	2.67e-07	1	0
DEPDC1	55635	broad.mit.edu	37	1	68947901	68947901	+	Silent	SNP	A	A	C			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr1:68947901A>C	uc001dem.3	-	8	1707	c.1590T>G	c.(1588-1590)GCT>GCG	p.A530A	DEPDC1_uc001dej.3_5'UTR|DEPDC1_uc001dek.3_Intron|DEPDC1_uc001del.3_Intron	NM_001114120	NP_001107592	Q5TB30	DEP1A_HUMAN	DEP domain containing 1 isoform a	530					intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding				0				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		TGATAATTTCAGCCACTGGTG	0.388		NA											44	152					0	0	0	0
SLC44A5	204962	broad.mit.edu	37	1	75688097	75688097	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr1:75688097A>C	uc001dgu.2	-	14	1178	c.1034T>G	c.(1033-1035)TTC>TGC	p.F345C	SLC44A5_uc001dgt.2_Missense_Mutation_p.F345C|SLC44A5_uc001dgs.2_Missense_Mutation_p.F303C|SLC44A5_uc001dgr.2_Missense_Mutation_p.F303C|SLC44A5_uc010oqz.1_Missense_Mutation_p.F384C|SLC44A5_uc010ora.1_Missense_Mutation_p.F339C|SLC44A5_uc010orb.1_Missense_Mutation_p.F215C	NM_152697	NP_689910	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5 isoform A	345	Helical; (Potential).					integral to membrane|plasma membrane	choline transmembrane transporter activity			ovary(2)|skin(2)	4						ATTCCTGAGGAAGATCAGCAT	0.388		NA											30	30					0	0	0	0
COL11A1	1301	broad.mit.edu	37	1	103345449	103345449	+	Silent	SNP	T	T	C			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr1:103345449T>C	uc001dul.2	-	66	5382	c.5064A>G	c.(5062-5064)GGA>GGG	p.G1688G	COL11A1_uc001duk.2_Silent_p.G884G|COL11A1_uc001dum.2_Silent_p.G1700G|COL11A1_uc001dun.2_Silent_p.G1649G|COL11A1_uc009weh.2_Silent_p.G1572G	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	1688	Fibrillar collagen NC1.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TGATGGAATTTCCTTCAACAT	0.388		NA											10	17					0	0	0	0
SH2D1B	117157	broad.mit.edu	37	1	162368816	162368816	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr1:162368816T>C	uc001gbz.1	-	3	382	c.260A>G	c.(259-261)GAA>GGA	p.E87G	SH2D1B_uc001gca.1_Intron	NM_053282	NP_444512	O14796	SH21B_HUMAN	SH2 domain containing 1B	87	SH2.									pancreas(1)	1	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			ATTTGGTTTTTCAAATTTGGA	0.398		NA											6	64					0	0	0	0
ILDR2	387597	broad.mit.edu	37	1	166927307	166927307	+	Silent	SNP	G	G	A	rs143548938		TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr1:166927307G>A	uc001gdx.1	-	2	134	c.78C>T	c.(76-78)CCC>CCT	p.P26P		NM_199351	NP_955383	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor	26	Ig-like V-type.|Extracellular (Potential).					integral to membrane				ovary(1)	1						TCTTCTTGTCGGGCACTGTGA	0.522		NA											9	120					0	0	0	0
TNN	63923	broad.mit.edu	37	1	175067683	175067683	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr1:175067683C>A	uc001gkl.1	+	9	2184	c.2071C>A	c.(2071-2073)CAG>AAG	p.Q691K	TNN_uc010pmx.1_Missense_Mutation_p.Q602K	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N precursor	691	Fibronectin type-III 5.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				large_intestine(5)|ovary(3)|central_nervous_system(1)	9		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CGTGTGGGCCCAGAAGGGGGA	0.602		NA											35	33					7.11e-15	1.7e-14	1	0
QSOX1	5768	broad.mit.edu	37	1	180135628	180135628	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr1:180135628T>C	uc001gnz.2	+	2	343	c.268T>C	c.(268-270)TGG>CGG	p.W90R	QSOX1_uc001gny.2_Missense_Mutation_p.W90R|QSOX1_uc001goa.2_Missense_Mutation_p.W90R	NM_002826	NP_002817	O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1 isoform a	90	Thioredoxin.				cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			ovary(1)|central_nervous_system(1)	2						CCTTTCAGCCTGGAGGCCGGC	0.592		NA											3	70					0	0	0	0
RGS1	5996	broad.mit.edu	37	1	192548327	192548327	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr1:192548327A>C	uc001gsi.1	+	5	571	c.505A>C	c.(505-507)ACG>CCG	p.T169P		NM_002922	NP_002913	Q08116	RGS1_HUMAN	regulator of G-protein signalling 1	169	RGS.				immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of signal transduction	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity				0		Breast(1374;0.188)				ACCAACCCCCACGTGTTTTGA	0.338		NA											42	23					0	0	0	0
TIMM17A	10440	broad.mit.edu	37	1	201938617	201938617	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr1:201938617C>T	uc001gxc.2	+	6	487	c.451C>T	c.(451-453)CCC>TCC	p.P151S		NM_006335	NP_006326	Q99595	TI17A_HUMAN	translocase of inner mitochondrial membrane 17	151					protein targeting to mitochondrion	integral to membrane|mitochondrial inner membrane presequence translocase complex	P-P-bond-hydrolysis-driven protein transmembrane transporter activity				0						TGCAGAAGACCCCTCCCAGTT	0.363		NA											51	42					0	0	0	0
PROX1	5629	broad.mit.edu	37	1	214184888	214184888	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr1:214184888C>G	uc001hkh.2	+	4	2130	c.1858C>G	c.(1858-1860)CTC>GTC	p.L620V		NM_002763	NP_002754	Q92786	PROX1_HUMAN	prospero homeobox 1	620	Prospero-type homeobox.				aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			ovary(3)|lung(1)|central_nervous_system(1)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		TACCTCTCAGCTCATCAAGTG	0.373		NA											3	74					0	0	0	0
OR2AK2	391191	broad.mit.edu	37	1	248129000	248129000	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr1:248129000G>T	uc010pzd.1	+	1	367	c.367G>T	c.(367-369)GGT>TGT	p.G123C	OR2L13_uc001ids.2_Intron	NM_001004491	NP_001004491	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK,	123	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CTTGGCCCTTGGTGGAACTGA	0.448		NA											15	218					1.03e-11	2.42e-11	1	0
OR2G6	391211	broad.mit.edu	37	1	248685814	248685814	+	Silent	SNP	C	C	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr1:248685814C>A	uc001ien.1	+	1	867	c.867C>A	c.(865-867)ATC>ATA	p.I289I		NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G,	289	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACCCCATTATCTACACTCTGA	0.443		NA											9	60					3.86e-05	8.54e-05	1	0
DIP2C	22982	broad.mit.edu	37	10	412284	412284	+	Silent	SNP	C	C	G			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr10:412284C>G	uc001ifp.2	-	19	2289	c.2199G>C	c.(2197-2199)CTG>CTC	p.L733L	DIP2C_uc009xhi.1_Silent_p.L119L|DIP2C_uc010pzz.1_Silent_p.L54L	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C	733						nucleus	catalytic activity|transcription factor binding			breast(4)|ovary(2)|large_intestine(1)	7		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CACACACACACAGCTCCCCGA	0.542		NA											7	44					0	0	0	0
KLF6	1316	broad.mit.edu	37	10	3823889	3823889	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr10:3823889C>T	uc001iha.2	-	2	887	c.620G>A	c.(619-621)TGC>TAC	p.C207Y	KLF6_uc010qaj.1_Missense_Mutation_p.C207Y|KLF6_uc010qak.1_Intron|KLF6_uc010qal.1_Intron|KLF6_uc001ihb.2_Missense_Mutation_p.C207Y	NM_001300	NP_001291	Q99612	KLF6_HUMAN	Kruppel-like factor 6 isoform A	207	C2H2-type 1.				B cell differentiation	nucleus	zinc ion binding			central_nervous_system(3)|lung(1)	4				Colorectal(1;0.238)		AACTTTCCTGCAGCCGTTAAA	0.657		NA									OREG0019980	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	43					0	0	0	0
C10orf18	54906	broad.mit.edu	37	10	5789368	5789368	+	Silent	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr10:5789368G>A	uc001iij.2	+	15	4609	c.3984G>A	c.(3982-3984)GAG>GAA	p.E1328E	C10orf18_uc001iik.2_Silent_p.E172E	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN	hypothetical protein LOC54906	1328										ovary(1)|central_nervous_system(1)	2						AACCGGAAGAGGTGGCTCTCA	0.453		NA											68	140					0	0	0	0
PHYH	5264	broad.mit.edu	37	10	13337587	13337587	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr10:13337587C>A	uc001imf.2	-	3	242	c.154G>T	c.(154-156)GTT>TTT	p.V52F	PHYH_uc001ime.2_5'UTR|PHYH_uc001img.2_Missense_Mutation_p.V33F	NM_006214	NP_006205	O14832	PAHX_HUMAN	phytanoyl-CoA 2-hydroxylase isoform a precursor	52					fatty acid alpha-oxidation|nervous system development	peroxisomal matrix	electron carrier activity|L-ascorbic acid binding|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding				0		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	AGGGTTAGAACGTTATTATCC	0.264		NA											11	31					3.86e-05	8.54e-05	1	0
ZNF485	220992	broad.mit.edu	37	10	44111790	44111790	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr10:44111790C>T	uc010qfc.1	+	5	493	c.299C>T	c.(298-300)TCT>TTT	p.S100F	ZNF485_uc010qfd.1_Missense_Mutation_p.S9F	NM_145312	NP_660355	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	100					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CAAAGCACTTCTGAAGCATCT	0.408		NA											7	36					0	0	0	0
PCDH15	65217	broad.mit.edu	37	10	56287615	56287615	+	Silent	SNP	T	T	C			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr10:56287615T>C	uc001jju.1	-	3	509	c.114A>G	c.(112-114)GGA>GGG	p.G38G	PCDH15_uc010qhq.1_Silent_p.G43G|PCDH15_uc010qhr.1_Silent_p.G38G|PCDH15_uc010qhs.1_Silent_p.G43G|PCDH15_uc010qht.1_Silent_p.G38G|PCDH15_uc010qhu.1_Silent_p.G38G|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Silent_p.G38G|PCDH15_uc010qhw.1_Silent_p.G38G|PCDH15_uc010qhx.1_Silent_p.G38G|PCDH15_uc010qhy.1_Silent_p.G43G|PCDH15_uc010qhz.1_Silent_p.G38G|PCDH15_uc010qia.1_Intron|PCDH15_uc010qib.1_Intron|PCDH15_uc001jjw.2_Silent_p.G38G	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	38	Extracellular (Potential).				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				TAGCTGGTGGTCCTCCCCTAG	0.348		NA								HNSCC(58;0.16)			22	22					0	0	0	0
ANK3	288	broad.mit.edu	37	10	61832598	61832598	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr10:61832598G>A	uc001jky.2	-	37	8233	c.8041C>T	c.(8041-8043)CAG>TAG	p.Q2681*	ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	2681					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						TCCTCAGTCTGTTGGGAGAGA	0.542		NA											24	44					0	0	0	0
CDHR1	92211	broad.mit.edu	37	10	85964326	85964326	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr10:85964326G>A	uc001kcv.2	+	9	827	c.827G>A	c.(826-828)GGC>GAC	p.G276D	CDHR1_uc001kcw.2_Missense_Mutation_p.G276D|CDHR1_uc009xst.2_Missense_Mutation_p.G35D	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	protocadherin 21 precursor	276	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion		calcium ion binding|receptor activity			ovary(1)	1						GGAGACCGGGGCAAACCCAAT	0.478		NA											31	43					0	0	0	0
GRID1	2894	broad.mit.edu	37	10	87614311	87614311	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr10:87614311A>T	uc001kdl.1	-	8	1276	c.1175T>A	c.(1174-1176)GTC>GAC	p.V392D	GRID1_uc009xsu.1_RNA	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	392	Extracellular (Potential).					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10					L-Glutamic Acid(DB00142)	TTCAAACTGGACATAGGGATT	0.493		NA								Multiple Myeloma(13;0.14)			11	48					0	0	0	0
GBF1	8729	broad.mit.edu	37	10	104136823	104136823	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr10:104136823G>A	uc001kux.1	+	33	4657	c.4417G>A	c.(4417-4419)GGG>AGG	p.G1473R	GBF1_uc001kuy.1_Missense_Mutation_p.G1473R|GBF1_uc001kuz.1_Missense_Mutation_p.G1474R	NM_004193	NP_004184	Q92538	GBF1_HUMAN	golgi-specific brefeldin A resistant guanine	1473					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CTCTCGGGGCGGGCAGAGTGA	0.532		NA											55	71					0	0	0	0
OR51E2	81285	broad.mit.edu	37	11	4703255	4703255	+	Silent	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr11:4703255G>A	uc001lzk.2	-	2	931	c.687C>T	c.(685-687)TCC>TCT	p.S229S		NM_030774	NP_110401	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E,	229	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			lung(3)|ovary(2)	5		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		GCTCTGACTTGGAAGGCAGTT	0.498		NA											16	49					0	0	0	0
OR51I2	390064	broad.mit.edu	37	11	5474810	5474810	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr11:5474810T>G	uc010qzf.1	+	1	92	c.92T>G	c.(91-93)CTC>CGC	p.L31R	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	NM_001004754	NP_001004754	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I,	31	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(2)	4		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCAGGGCCCCTCTGCGTGATG	0.562		NA											5	43					0	0	0	0
PLEKHA7	144100	broad.mit.edu	37	11	17035570	17035570	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr11:17035570C>T	uc001mmo.2	-	3	202	c.187G>A	c.(187-189)GGC>AGC	p.G63S	PLEKHA7_uc010rcu.1_Missense_Mutation_p.G63S	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A	63	WW 2.				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			skin(2)|central_nervous_system(1)	3						TCCGTGAAGCCCTCCTCCCAG	0.547		NA											2	1					0	0	0	0
PAX6	5080	broad.mit.edu	37	11	31823109	31823109	+	Missense_Mutation	SNP	G	G	T	rs121907928		TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr11:31823109G>T	uc001mtd.3	-	5	1247	c.357C>A	c.(355-357)AGC>AGA	p.S119R	PAX6_uc001mte.3_Missense_Mutation_p.S119R|PAX6_uc001mtg.3_Missense_Mutation_p.S133R|PAX6_uc001mtf.3_Missense_Mutation_p.S119R|PAX6_uc001mth.3_Missense_Mutation_p.S119R|PAX6_uc009yjr.2_Missense_Mutation_p.S119R	NM_001127612	NP_001121084	P26367	PAX6_HUMAN	paired box gene 6 isoform a	119	Paired.		S -> R (in AN).		blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			lung(4)|ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	9	Lung SC(675;0.225)					ATGAACTTACGCTTGGTATGT	0.512		NA							Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation				10	35					2.18e-05	4.87e-05	1	0
DEPDC7	91614	broad.mit.edu	37	11	33054913	33054913	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr11:33054913C>T	uc001mub.2	+	9	1540	c.1448C>T	c.(1447-1449)TCA>TTA	p.S483L	DEPDC7_uc001muc.2_Missense_Mutation_p.S474L	NM_001077242	NP_001070710	Q96QD5	DEPD7_HUMAN	novel 58.3 KDA protein isoform 1	483					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(1)|skin(1)	2						GATGAGGATTCAAAACTTTCT	0.338		NA											11	39					0	0	0	0
PAMR1	25891	broad.mit.edu	37	11	35496243	35496243	+	Silent	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr11:35496243G>A	uc001mwg.2	-	4	472	c.429C>T	c.(427-429)AGC>AGT	p.S143S	PAMR1_uc001mwf.2_Silent_p.S143S|PAMR1_uc010rew.1_Intron|PAMR1_uc010rex.1_Silent_p.S103S	NM_001001991	NP_001001991	Q6UXH9	PAMR1_HUMAN	regeneration associated muscle protease isoform	143	CUB.				proteolysis	extracellular region	serine-type endopeptidase activity			ovary(2)	2						TTAGGGGATAGCTTTCCAACA	0.463		NA											22	55					0	0	0	0
CKAP5	9793	broad.mit.edu	37	11	46780912	46780912	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr11:46780912T>A	uc001ndi.1	-	34	4585	c.4475A>T	c.(4474-4476)GAG>GTG	p.E1492V	CKAP5_uc009ylg.1_Missense_Mutation_p.E1378V|CKAP5_uc001ndj.1_Missense_Mutation_p.E1492V|CKAP5_uc001ndh.1_Missense_Mutation_p.E421V	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN	colonic and hepatic tumor over-expressed protein	1492					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding|protein binding			ovary(1)|skin(1)	2						ATTGTCATTCTCAATCTCATC	0.493		NA											16	62					0	0	0	0
FNBP4	23360	broad.mit.edu	37	11	47739054	47739054	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr11:47739054C>A	uc009ylv.2	-	17	3127	c.2974G>T	c.(2974-2976)GAG>TAG	p.E992*	AGBL2_uc001ngg.2_5'Flank|AGBL2_uc010rhq.1_5'Flank|AGBL2_uc001ngh.1_5'Flank|FNBP4_uc001ngi.2_Nonsense_Mutation_p.E306*|FNBP4_uc001ngj.2_Nonsense_Mutation_p.E899*	NM_015308	NP_056123	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	992										ovary(1)	1						GCATTTCTCTCTGCCATGCCA	0.328		NA											15	37					0.000308642	0.000670036	1	0
OR5T3	390154	broad.mit.edu	37	11	56020591	56020591	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr11:56020591A>G	uc010rjd.1	+	1	916	c.916A>G	c.(916-918)ATA>GTA	p.I306V		NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T,	306	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Esophageal squamous(21;0.00448)					CATAGTGTCAATATTTTACAC	0.358		NA											14	54					0	0	0	0
SERPING1	710	broad.mit.edu	37	11	57367613	57367613	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr11:57367613C>A	uc001nkp.1	+	3	504	c.313C>A	c.(313-315)CCA>ACA	p.P105T	SERPING1_uc001nkq.1_Missense_Mutation_p.P105T|SERPING1_uc010rju.1_Missense_Mutation_p.P53T|SERPING1_uc010rjv.1_Missense_Mutation_p.P110T|SERPING1_uc001nkr.1_Missense_Mutation_p.P105T|SERPING1_uc009ymi.1_Missense_Mutation_p.P105T|SERPING1_uc009ymj.1_Missense_Mutation_p.P105T|SERPING1_uc001nks.1_Intron	NM_000062	NP_000053	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G, member 1	105	6.|7 X 4 AA tandem repeats of [QE]-P-T-[TQ].		Missing (in HAE; type 2).		blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)	1						acccacccaaccaactaccca	0.154		NA							Hereditary_Angioedema				18	63					3.33e-07	7.7e-07	1	0
FAM111A	63901	broad.mit.edu	37	11	58920865	58920865	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr11:58920865G>C	uc010rkp.1	+	5	1951	c.1724G>C	c.(1723-1725)GGC>GCC	p.G575A	FAM111A_uc010rkq.1_Missense_Mutation_p.G575A|FAM111A_uc010rkr.1_Missense_Mutation_p.G575A|FAM111A_uc001nno.2_Missense_Mutation_p.G575A|FAM111A_uc001nnp.2_Missense_Mutation_p.G575A|FAM111A_uc001nnq.2_Missense_Mutation_p.G575A	NM_001142521	NP_001135993	Q96PZ2	F111A_HUMAN	hypothetical protein LOC63901	575					proteolysis		serine-type endopeptidase activity			ovary(3)	3		all_epithelial(135;0.139)				ATTGAGTTTGGCTCTACCATG	0.403		NA											56	79					0	0	0	0
AHNAK	79026	broad.mit.edu	37	11	62295549	62295549	+	Missense_Mutation	SNP	C	C	T	rs1298288		TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr11:62295549C>T	uc001ntl.2	-	5	6640	c.6340G>A	c.(6340-6342)GCC>ACC	p.A2114T	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	2114					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				ATCTTGGGGGCCTTGAAGTGC	0.507		NA											5	321					0	0	0	0
RPS6KA4	8986	broad.mit.edu	37	11	64137240	64137240	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr11:64137240C>T	uc001oae.2	+	14	1755	c.1672C>T	c.(1672-1674)CGG>TGG	p.R558W	RPS6KA4_uc001oad.2_Missense_Mutation_p.R552W|RPS6KA4_uc010rnl.1_Missense_Mutation_p.R495W|RPS6KA4_uc001oaf.2_Missense_Mutation_p.R551W|RPS6KA4_uc009ypp.2_Intron	NM_003942	NP_003933	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide	558	Protein kinase 2.				axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity			lung(3)|ovary(1)|breast(1)	5						CGCGCGGTTGCGGCCGCAGAG	0.692		NA											9	14					0	0	0	0
MYO7A	4647	broad.mit.edu	37	11	76891461	76891461	+	Silent	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr11:76891461G>A	uc001oyb.2	+	22	2900	c.2628G>A	c.(2626-2628)GAG>GAA	p.E876E	MYO7A_uc010rsl.1_Silent_p.E876E|MYO7A_uc010rsm.1_Silent_p.E865E|MYO7A_uc001oyc.2_Silent_p.E876E|MYO7A_uc001oyd.2_Silent_p.E216E|MYO7A_uc009yus.1_RNA|MYO7A_uc009yut.1_Silent_p.E87E	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	myosin VIIA isoform 1	876	Potential.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|breast(1)	4						GGCTGGCGGAGGAAGAGAAGC	0.587		NA											5	8					0	0	0	0
CARD17	440068	broad.mit.edu	37	11	104970094	104970094	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr11:104970094G>A	uc001pir.1	-	3	346	c.329C>T	c.(328-330)TCC>TTC	p.S110F	CASP1_uc010rve.1_Intron|CASP1_uc010rvf.1_Intron|CASP1_uc010rvg.1_Intron|CASP1_uc010rvh.1_Intron|CASP1_uc010rvi.1_Intron	NM_001007232	NP_001007233	Q5XLA6	CAR17_HUMAN	caspase recruitment domain family, member 17	110					proteolysis|regulation of apoptosis	cytoplasm	cysteine-type endopeptidase activity|cysteine-type endopeptidase inhibitor activity			ovary(1)	1						CATTACCTAGGAAGGAAGTAC	0.388		NA											23	32					0	0	0	0
CD163L1	283316	broad.mit.edu	37	12	7548986	7548986	+	Silent	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr12:7548986C>T	uc001qsy.2	-	8	1781	c.1755G>A	c.(1753-1755)CTG>CTA	p.L585L	CD163L1_uc010sge.1_Silent_p.L595L	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	scavenger receptor cysteine-rich type 1	585	SRCR 6.|Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			ovary(8)|skin(2)|central_nervous_system(1)	11						TGCCGCCCACCAGCCTCAGGC	0.453		NA											10	14					0	0	0	0
GRIN2B	2904	broad.mit.edu	37	12	13828794	13828794	+	Splice_Site	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr12:13828794C>T	uc001rbt.2	-	4	1190	c.1011_splice	c.e4-1	p.R337_splice		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B						response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GATCAGATACCTGTAAAGATA	0.408		NA											28	58					0	0	0	0
SFRS2IP	9169	broad.mit.edu	37	12	46321867	46321867	+	Silent	SNP	T	T	C			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr12:46321867T>C	uc001rox.2	-	11	1904	c.1617A>G	c.(1615-1617)ACA>ACG	p.T539T	SFRS2IP_uc001row.2_Silent_p.T224T|SFRS2IP_uc001roy.1_Silent_p.T613T	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	splicing factor, arginine/serine-rich 2,	539					spliceosome assembly	nucleus	protein binding|zinc ion binding				0	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.209)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.1)		TACATACATCTGTCTTTACCT	0.368		NA											18	79					0	0	0	0
SLC11A2	4891	broad.mit.edu	37	12	51384679	51384679	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr12:51384679T>A	uc001rxe.3	-	15	1571	c.1474A>T	c.(1474-1476)ATG>TTG	p.M492L	SLC11A2_uc001rxd.3_Missense_Mutation_p.M341L|SLC11A2_uc001rxc.3_Missense_Mutation_p.M492L|SLC11A2_uc001rxf.2_RNA|SLC11A2_uc001rxg.1_Missense_Mutation_p.M105L|SLC11A2_uc010smx.1_Missense_Mutation_p.M488L|SLC11A2_uc001rxh.1_Missense_Mutation_p.M492L|SLC11A2_uc001rxj.1_Missense_Mutation_p.M492L|SLC11A2_uc001rxi.2_Missense_Mutation_p.M492L|SLC11A2_uc001rxk.1_Missense_Mutation_p.M521L|SLC11A2_uc010smy.1_Missense_Mutation_p.M455L	NM_000617	NP_000608	P49281	NRAM2_HUMAN	solute carrier family 11 (proton-coupled	492	Helical; (Potential).				activation of caspase activity|cellular iron ion homeostasis|cellular response to oxidative stress|detection of oxygen|ferrous iron import|multicellular organismal iron ion homeostasis|response to hypoxia|response to iron ion	apical plasma membrane|basal part of cell|cell surface|cytoplasmic vesicle|early endosome|late endosome|late endosome membrane|lysosomal membrane|lysosome|nucleus|paraferritin complex|perinuclear region of cytoplasm|perinuclear region of cytoplasm|plasma membrane|recycling endosome|trans-Golgi network	cadmium ion transmembrane transporter activity|cadmium ion transmembrane transporter activity|cobalt ion transmembrane transporter activity|copper ion transmembrane transporter activity|ferrous iron transmembrane transporter activity|ferrous iron transmembrane transporter activity|lead ion transmembrane transporter activity|lead ion transmembrane transporter activity|manganese ion transmembrane transporter activity|manganese ion transmembrane transporter activity|nickel ion transmembrane transporter activity|protein binding|solute:hydrogen symporter activity|vanadium ion transmembrane transporter activity|zinc ion transmembrane transporter activity			large_intestine(1)	1						ACAAAGTACATATTGATGGAA	0.468		NA											22	22					0	0	0	0
KRT72	140807	broad.mit.edu	37	12	52992876	52992876	+	Silent	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr12:52992876C>T	uc001sar.2	-	2	533	c.447G>A	c.(445-447)CAG>CAA	p.Q149Q	KRT72_uc001saq.2_Silent_p.Q149Q|KRT72_uc010sns.1_Silent_p.Q149Q|KRT72_uc010snt.1_5'UTR	NM_001146225	NP_001139697	Q14CN4	K2C72_HUMAN	keratin 72 isoform 1	149	Coil 1A.|Rod.					keratin filament	structural molecule activity			ovary(5)|pancreas(1)	6				BRCA - Breast invasive adenocarcinoma(357;0.195)		GCACCTGATTCTGCTGCTCCA	0.547		NA											16	51					0	0	0	0
RAB3IP	117177	broad.mit.edu	37	12	70194071	70194071	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr12:70194071T>A	uc001svp.2	+	7	1466	c.1019T>A	c.(1018-1020)ATC>AAC	p.I340N	RAB3IP_uc001svm.2_Missense_Mutation_p.I324N|RAB3IP_uc001svn.2_Missense_Mutation_p.I324N|RAB3IP_uc001svo.2_Intron|RAB3IP_uc001svq.2_Missense_Mutation_p.I340N|RAB3IP_uc001svr.2_RNA|RAB3IP_uc001svs.2_Intron|RAB3IP_uc001svt.2_Missense_Mutation_p.I118N	NM_175623	NP_783322	Q96QF0	RAB3I_HUMAN	RAB3A interacting protein isoform alpha 2	340					cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding			ovary(1)	1	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			TTAGACAAAATCTACCAGGAA	0.343		NA											7	24					0	0	0	0
ANO4	121601	broad.mit.edu	37	12	101510520	101510520	+	Silent	SNP	A	A	C			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr12:101510520A>C	uc010svm.1	+	25	3086	c.2514A>C	c.(2512-2514)CGA>CGC	p.R838R	ANO4_uc001thw.2_Silent_p.R803R|ANO4_uc001thx.2_Silent_p.R838R|ANO4_uc001thy.2_Silent_p.R358R	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	anoctamin 4	838	Cytoplasmic (Potential).					chloride channel complex	chloride channel activity			ovary(4)|skin(2)	6						TTGAGAACCGATCTGAGCCTG	0.507		NA								HNSCC(74;0.22)			21	85					0	0	0	0
MYBPC1	4604	broad.mit.edu	37	12	102069094	102069094	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr12:102069094T>C	uc001tii.2	+	25	2915	c.2813T>C	c.(2812-2814)GTG>GCG	p.V938A	MYBPC1_uc001tig.2_Missense_Mutation_p.V945A|MYBPC1_uc010svq.1_Missense_Mutation_p.V907A|MYBPC1_uc001tih.2_Missense_Mutation_p.V945A|MYBPC1_uc001tij.2_Missense_Mutation_p.V920A|MYBPC1_uc010svr.1_Missense_Mutation_p.V920A|MYBPC1_uc010svs.1_Missense_Mutation_p.V938A|MYBPC1_uc010svt.1_Missense_Mutation_p.V908A|MYBPC1_uc010svu.1_Missense_Mutation_p.V901A|MYBPC1_uc001tik.2_Missense_Mutation_p.V894A|MYBPC1_uc001til.2_5'UTR|MYBPC1_uc001tim.2_5'UTR	NM_206820	NP_996556	Q00872	MYPC1_HUMAN	myosin binding protein C, slow type isoform 3	938	Fibronectin type-III 3.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			ovary(2)|liver(1)|skin(1)	4						CCCCAAATTGTGAAGATTGAG	0.448		NA											9	31					0	0	0	0
CCDC64	92558	broad.mit.edu	37	12	120502659	120502659	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr12:120502659G>T	uc001txl.1	+	4	910	c.885G>T	c.(883-885)AGG>AGT	p.R295S	CCDC64_uc001txk.2_Missense_Mutation_p.R295S|CCDC64_uc009zwv.1_RNA|CCDC64_uc010sze.1_Missense_Mutation_p.R39S	NM_207311	NP_997194	Q6ZP65	BICR1_HUMAN	coiled-coil domain containing 64	295	Potential.				Golgi to secretory granule transport|neuron projection development	centrosome	dynactin binding|Rab GTPase binding			ovary(2)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCCTGGAGAGGCAGGGCCATG	0.547		NA											56	91					1.94e-29	4.72e-29	1	0
TUBGCP3	10426	broad.mit.edu	37	13	113200121	113200121	+	Silent	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr13:113200121C>T	uc001vse.1	-	11	1414	c.1227G>A	c.(1225-1227)CCG>CCA	p.P409P	TUBGCP3_uc010tjq.1_Silent_p.P399P|TUBGCP3_uc001vsf.2_Silent_p.P409P	NM_006322	NP_006313	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	409					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton			central_nervous_system(1)	1	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					ACCGCATGTACGGGTCTCCTG	0.502		NA											54	45					0	0	0	0
TSHR	7253	broad.mit.edu	37	14	81610331	81610332	+	Nonsense_Mutation	DNP	TG	TG	AT			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr14:81610331_81610332TG>AT	uc001xvd.1	+	10	2085_2086	c.1929_1930TG>AT	c.(1927-1932)TATGCT>TAATCT	p.643_644YA>*S		NM_000369	NP_000360	P16473	TSHR_HUMAN	thyroid stimulating hormone receptor isoform 1	643_644	Helical; Name=6; (Potential).				cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			thyroid(289)|ovary(5)|lung(3)|kidney(1)|skin(1)	299				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	TCTCATTCTATGCTCTGTCAGC	0.455		NA	Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism 						56	98					0	0	0	0
CLMN	79789	broad.mit.edu	37	14	95660246	95660246	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr14:95660246C>G	uc001yef.2	-	12	2896	c.2780G>C	c.(2779-2781)AGC>ACC	p.S927T		NM_024734	NP_079010	Q96JQ2	CLMN_HUMAN	calmin	927						integral to membrane	actin binding				0				Epithelial(152;0.193)		CTGAACATAGCTAAAATGATC	0.378		NA											7	50					0	0	0	0
GABRG3	2567	broad.mit.edu	37	15	27572157	27572157	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr15:27572157A>T	uc001zbg.1	+	4	638	c.472A>T	c.(472-474)AAA>TAA	p.K158*	GABRG3_uc001zbf.2_Nonsense_Mutation_p.K158*	NM_033223	NP_150092	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma	158	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity				0		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		GAATGACGGGAAAATCCTTTA	0.443		NA											13	16					0	0	0	0
HERC2	8924	broad.mit.edu	37	15	28357012	28357012	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr15:28357012A>C	uc001zbj.2	-	93	14508	c.14402T>G	c.(14401-14403)CTT>CGT	p.L4801R	HERC2_uc001zbi.2_Missense_Mutation_p.L490R	NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	4801					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CTCTCCTGTAAGTGCGATGCG	0.527		NA											23	53					0	0	0	0
ACSBG1	23205	broad.mit.edu	37	15	78472020	78472020	+	Silent	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr15:78472020C>T	uc002bdh.2	-	10	1412	c.1356G>A	c.(1354-1356)GCG>GCA	p.A452A	ACSBG1_uc010umw.1_Silent_p.A448A|ACSBG1_uc010umx.1_Silent_p.A210A	NM_015162	NP_055977	Q96GR2	ACBG1_HUMAN	lipidosin	452					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			ovary(1)	1						TCATGGGGGCCGCTCCATAGA	0.557		NA											10	52					0	0	0	0
KLHL25	64410	broad.mit.edu	37	15	86311556	86311556	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr15:86311556T>A	uc002bly.2	-	2	1689	c.1486A>T	c.(1486-1488)ATC>TTC	p.I496F		NM_022480	NP_071925	Q9H0H3	ENC2_HUMAN	BTB/POZ KELCH domain protein	496	Kelch 5.					cytoplasm				ovary(2)	2						CCTCCCATGATGAAGATCTGG	0.617		NA											38	61					0	0	0	0
RHOT2	89941	broad.mit.edu	37	16	721109	721109	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr16:721109A>G	uc002cip.2	+	11	842	c.775A>G	c.(775-777)ATC>GTC	p.I259V	RHOT2_uc002ciq.2_Missense_Mutation_p.I152V|RHOT2_uc010bqy.2_Missense_Mutation_p.I38V	NM_138769	NP_620124	Q8IXI1	MIRO2_HUMAN	ras homolog gene family, member T2	259	Mitochondrial intermembrane (Potential).				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding			pancreas(1)	1		Hepatocellular(780;0.0218)				CACGCTCTTCATCCAGCGCGG	0.657		NA											19	45					0	0	0	0
SOX8	30812	broad.mit.edu	37	16	1035026	1035026	+	Silent	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr16:1035026G>A	uc002ckn.2	+	3	1096	c.981G>A	c.(979-981)TCG>TCA	p.S327S		NM_014587	NP_055402	P57073	SOX8_HUMAN	SRY (sex determining region Y)-box 8	327					adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|Sertoli cell development|signal transduction|spermatogenesis|ureter morphogenesis	cytoplasm|nucleus				central_nervous_system(1)|skin(1)	2		Hepatocellular(780;0.00308)				CCTCCGCGTCGCCCACCGAGA	0.756		NA											5	7					0	0	0	0
ZNF205	7755	broad.mit.edu	37	16	3169975	3169975	+	Silent	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr16:3169975C>T	uc002cub.2	+	7	1449	c.1314C>T	c.(1312-1314)CAC>CAT	p.H438H	ZNF205_uc002cua.2_Silent_p.H438H	NM_001042428	NP_001035893	O95201	ZN205_HUMAN	zinc finger protein 205	438	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding				0						TAGTCACCCACCAGCGCACCC	0.657		NA											21	59					0	0	0	0
APOB48R	55911	broad.mit.edu	37	16	28506581	28506581	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr16:28506581C>G	uc002dqb.1	+	2	229	c.219C>G	c.(217-219)AGC>AGG	p.S73R	uc010vct.1_Intron|CLN3_uc002dpp.2_5'Flank|APOB48R_uc010byg.1_5'UTR	NM_018690	NP_061160	Q0VD83	APOBR_HUMAN	apolipoprotein B48 receptor	73					cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle					0						TTAGAGGCAGCCAAAACGAGG	0.617		NA											9	4					0	0	0	0
ZNF764	92595	broad.mit.edu	37	16	30567359	30567359	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr16:30567359G>A	uc002dyq.2	-	3	464	c.383C>T	c.(382-384)GCC>GTC	p.A128V	ZNF764_uc002dyr.1_Missense_Mutation_p.A127V	NM_033410	NP_219363	Q96H86	ZN764_HUMAN	zinc finger protein 764	128					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						AGACCCGGCGGCCACAGGGTC	0.632		NA											14	83					0	0	0	0
PRR14	78994	broad.mit.edu	37	16	30667619	30667619	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr16:30667619C>T	uc002dyy.2	+	12	2003	c.1745C>T	c.(1744-1746)CCC>CTC	p.P582L	PRR14_uc002dyz.2_Missense_Mutation_p.P427L|PRR14_uc002dza.2_Missense_Mutation_p.P582L	NM_024031	NP_076936	Q9BWN1	PRR14_HUMAN	proline rich 14	582											0			Colorectal(24;0.103)			CGGGAGCAGCCCCACTGGACC	0.537		NA											10	65					0	0	0	0
CES7	221223	broad.mit.edu	37	16	55907847	55907847	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr16:55907847C>A	uc002eip.2	-	2	325	c.176G>T	c.(175-177)GGA>GTA	p.G59V	CES7_uc002eio.2_Missense_Mutation_p.G59V|CES7_uc002eiq.2_5'UTR|CES7_uc002eir.2_5'UTR	NM_001143685	NP_001137157	Q6NT32	EST5A_HUMAN	carboxylesterase 7 isoform 1	59						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity				0				all cancers(182;0.229)|Epithelial(162;0.231)		AAAGGGGACTCCGAGGAACAC	0.597		NA											21	15					1.11e-12	2.61e-12	1	0
SPG7	6687	broad.mit.edu	37	16	89619494	89619494	+	Silent	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr16:89619494C>T	uc002fnj.2	+	14	1908	c.1887C>T	c.(1885-1887)GCC>GCT	p.A629A	SPG7_uc002fnk.1_RNA|SPG7_uc002fnl.2_Silent_p.A38A	NM_003119	NP_003110	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 isoform 1	629	Mitochondrial matrix (Potential).				cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding				0		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		TGTGCATGGCCCTGGGAGGAC	0.622		NA											4	6					0	0	0	0
MYH8	4626	broad.mit.edu	37	17	10303904	10303904	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr17:10303904C>G	uc002gmm.2	-	27	3633	c.3538G>C	c.(3538-3540)GAC>CAC	p.D1180H	uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle,	1180	Potential.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			skin(6)|ovary(3)|breast(2)	11						TCCTCCAGGTCCCTGCGCAGT	0.567		NA							Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling				52	109					0	0	0	0
MYO15A	51168	broad.mit.edu	37	17	18065898	18065898	+	Splice_Site	SNP	G	G	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr17:18065898G>T	uc010vxh.1	+	57	9856	c.9518_splice	c.e57-1	p.G3173_splice	MYO15A_uc010vxi.1_Splice_Site_p.G437_splice|MYO15A_uc010vxk.1_Splice_Site|MYO15A_uc010vxl.1_Splice_Site_p.G162_splice|MYO15A_uc002gsl.2_Splice_Site_p.G180_splice|MYO15A_uc010vxm.1_Splice_Site_p.G95_splice|MYO15A_uc002gsm.1_Splice_Site_p.G95_splice|MYO15A_uc010cpv.2_Splice_Site	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV						sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	all_neural(463;0.228)					TGCTTCTGCAGGGATCGCCAA	0.537		NA											16	6					3.41e-10	8e-10	1	0
GAS2L2	246176	broad.mit.edu	37	17	34077222	34077222	+	Silent	SNP	T	T	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr17:34077222T>A	uc002hjv.1	-	2	529	c.501A>T	c.(499-501)ACA>ACT	p.T167T		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	167					cell cycle arrest	cytoplasm|cytoskeleton				ovary(1)|skin(1)	2		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GCTGCACGAGTGTGGGCGCCG	0.711		NA											88	184					0	0	0	0
KRT31	3881	broad.mit.edu	37	17	39553595	39553595	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr17:39553595C>T	uc002hwn.2	-	1	250	c.197G>A	c.(196-198)CGC>CAC	p.R66H	KRT31_uc010cxn.2_Missense_Mutation_p.R66H	NM_002277	NP_002268	Q15323	K1H1_HUMAN	keratin 31	66	Coil 1A.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton				0		Breast(137;0.000496)				GCTGGCCAGGCGGTCGTTCAG	0.612		NA											41	86					0	0	0	0
KIF18B	146909	broad.mit.edu	37	17	43004426	43004426	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr17:43004426G>A	uc010wji.1	-	14	2407	c.2306C>T	c.(2305-2307)ACC>ATC	p.T769I	KIF18B_uc002iht.2_Missense_Mutation_p.T778I|KIF18B_uc010wjh.1_Missense_Mutation_p.T766I	NM_001080443	NP_001073912			kinesin family member 18B											ovary(2)	2		Prostate(33;0.155)				GCCCTTCATGGTGAACAGGGG	0.527		NA											13	24					0	0	0	0
XYLT2	64132	broad.mit.edu	37	17	48432867	48432867	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr17:48432867A>G	uc002iqo.2	+	5	1122	c.1013A>G	c.(1012-1014)AAT>AGT	p.N338S	XYLT2_uc010dbo.2_RNA	NM_022167	NP_071450	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	338	Lumenal (Potential).				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			pancreas(1)	1	Breast(11;7.18e-19)					ACCAGGACCAATGAGGAGCTG	0.562		NA											6	50					0	0	0	0
VEZF1	7716	broad.mit.edu	37	17	56060238	56060238	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr17:56060238G>A	uc002ivf.1	-	2	693	c.550C>T	c.(550-552)CGA>TGA	p.R184*	VEZF1_uc010dcn.1_Nonsense_Mutation_p.R28*	NM_007146	NP_009077	Q14119	VEZF1_HUMAN	zinc finger protein 161	184	C2H2-type 2.				cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)	2						TACACATCTCGGAAGGCCTTC	0.498		NA											16	45					0	0	0	0
TEX14	56155	broad.mit.edu	37	17	56729334	56729334	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr17:56729334G>A	uc010dcz.1	-	2	147	c.29C>T	c.(28-30)CCC>CTC	p.P10L	TEX14_uc002iwr.1_Missense_Mutation_p.P10L|TEX14_uc002iws.1_Missense_Mutation_p.P10L|TEX14_uc010dda.1_5'UTR	NM_198393	NP_938207	Q8IWB6	TEX14_HUMAN	testis expressed sequence 14 isoform a	10						cytoplasm	ATP binding|protein kinase activity			stomach(4)|lung(3)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)|pancreas(1)	17	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AACAGGACAGGGGACTGGAAG	0.398		NA											13	32					0	0	0	0
TTYH2	94015	broad.mit.edu	37	17	72209745	72209745	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr17:72209745G>C	uc002jkc.2	+	1	50	c.19G>C	c.(19-21)GAC>CAC	p.D7H	TTYH2_uc010wqw.1_5'Flank|MGC16275_uc002jkb.2_5'Flank	NM_032646	NP_116035	Q9BSA4	TTYH2_HUMAN	tweety 2 isoform 1	7	Extracellular (Potential).					chloride channel complex|plasma membrane	chloride channel activity|protein binding			ovary(3)|large_intestine(1)	4						GGCGCGCGTGGACTACATCGC	0.627		NA											5	14					0	0	0	0
CBX2	84733	broad.mit.edu	37	17	77758172	77758172	+	Silent	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr17:77758172G>A	uc002jxc.2	+	5	972	c.930G>A	c.(928-930)AAG>AAA	p.K310K		NM_005189	NP_005180	Q14781	CBX2_HUMAN	chromobox homolog 2 isoform 1	310					cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding				0			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			AAATCCCGAAGGCCCCCAGCG	0.682		NA											6	33					0	0	0	0
MC5R	4161	broad.mit.edu	37	18	13826243	13826243	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr18:13826243G>A	uc010xaf.1	+	1	479	c.479G>A	c.(478-480)GGG>GAG	p.G160E		NM_005913	NP_005904	P33032	MC5R_HUMAN	melanocortin 5 receptor	160	Helical; Name=4; (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			ovary(3)|lung(2)|breast(1)	6						AGGCGCTCAGGGGCCATCATC	0.577		NA											128	226					0	0	0	0
OSBPL1A	114876	broad.mit.edu	37	18	21759702	21759702	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr18:21759702C>T	uc002kve.2	-	20	2084	c.1910G>A	c.(1909-1911)CGA>CAA	p.R637Q	OSBPL1A_uc002kvd.2_Missense_Mutation_p.R124Q|OSBPL1A_uc010xbc.1_Missense_Mutation_p.R255Q	NM_080597	NP_542164	Q9BXW6	OSBL1_HUMAN	oxysterol-binding protein-like 1A isoform B	637					cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			ovary(4)	4	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					AAGGCCTCACCGCACTAATTC	0.448		NA											5	24					0	0	0	0
MOCOS	55034	broad.mit.edu	37	18	33795646	33795646	+	Silent	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr18:33795646C>T	uc002kzq.3	+	8	1526	c.1503C>T	c.(1501-1503)GCC>GCT	p.A501A		NM_017947	NP_060417	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	501					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding			skin(1)	1					Pyridoxal Phosphate(DB00114)	TCCCTCAGGCCCATGCTGACA	0.567		NA											6	15					0	0	0	0
MIER2	54531	broad.mit.edu	37	19	312210	312210	+	Silent	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr19:312210G>A	uc002lok.1	-	9	879	c.870C>T	c.(868-870)TTC>TTT	p.F290F		NM_017550	NP_060020	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family	290	ELM2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTTCACGTTGAACCGCAGCC	0.637		NA											12	34					0	0	0	0
ELAVL1	1994	broad.mit.edu	37	19	8032636	8032636	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr19:8032636G>A	uc002mjb.2	-	5	636	c.469C>T	c.(469-471)CGG>TGG	p.R157W		NM_001419	NP_001410	Q15717	ELAV1_HUMAN	ELAV-like 1	157	RRM 2.				3'-UTR-mediated mRNA stabilization|multicellular organismal development	cytoplasm|nucleoplasm	identical protein binding|mRNA binding|nucleotide binding				0						GCCTCCGACCGTTTGTCAAAC	0.468		NA											23	32					0	0	0	0
CALR	811	broad.mit.edu	37	19	13054358	13054358	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr19:13054358C>T	uc002mvu.2	+	8	1048	c.968C>T	c.(967-969)TCT>TTT	p.S323F	CALR_uc002mvv.2_5'Flank|RAD23A_uc002mvw.1_5'Flank|RAD23A_uc002mvx.1_5'Flank|RAD23A_uc002mvz.1_5'Flank|RAD23A_uc002mwa.1_5'Flank|RAD23A_uc002mvy.1_5'Flank|RAD23A_uc010xmw.1_5'Flank	NM_004343	NP_004334	P27797	CALR_HUMAN	calreticulin precursor	323	C-domain.				cell cycle arrest|cellular senescence|glucocorticoid receptor signaling pathway|negative regulation of neuron differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of steroid hormone receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of translation|peptide antigen assembly with MHC class I protein complex|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of phagocytosis|post-translational protein modification|protein export from nucleus|protein maturation by protein folding|protein N-linked glycosylation via asparagine|protein stabilization|regulation of apoptosis|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|extracellular space|MHC class I peptide loading complex|nucleus|perinuclear region of cytoplasm|polysome|proteinaceous extracellular matrix	androgen receptor binding|calcium ion binding|chaperone binding|complement component C1q binding|DNA binding|integrin binding|mRNA binding|protein binding involved in protein folding|sugar binding|ubiquitin protein ligase binding|unfolded protein binding|zinc ion binding			ovary(1)	1					Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAGGTCAAGTCTGGCACCATC	0.512		NA											10	25					0	0	0	0
PIK3R2	5296	broad.mit.edu	37	19	18278008	18278008	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr19:18278008A>T	uc002nia.1	+	13	2140	c.1628A>T	c.(1627-1629)GAG>GTG	p.E543V	PIK3R2_uc002nib.1_RNA|PIK3R2_uc010ebi.1_RNA	NM_005027	NP_005018	O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2	543					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding			lung(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)	6						ACGAAGCTGGAGCAGCAGCTG	0.637		NA											22	29					0	0	0	0
LGI4	163175	broad.mit.edu	37	19	35617874	35617874	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr19:35617874G>A	uc002nxx.2	-	7	1270	c.676C>T	c.(676-678)CCC>TCC	p.P226S	LGI4_uc002nxy.1_Missense_Mutation_p.P54S|LGI4_uc002nxz.1_Missense_Mutation_p.P54S	NM_139284	NP_644813	Q8N135	LGI4_HUMAN	leucine-rich repeat LGI family, member 4	226	EAR 1.					extracellular region				pancreas(1)	1	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			TAGGAGAAGGGCTCTACGCTC	0.647		NA											16	16					0	0	0	0
ZNF573	126231	broad.mit.edu	37	19	38230129	38230129	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr19:38230129T>G	uc002ohe.2	-	4	1284	c.1262A>C	c.(1261-1263)AAG>ACG	p.K421T	ZNF573_uc010efs.2_Missense_Mutation_p.K334T|ZNF573_uc002ohd.2_Missense_Mutation_p.K419T|ZNF573_uc002ohf.2_Missense_Mutation_p.K363T|ZNF573_uc002ohg.2_Missense_Mutation_p.K333T	NM_152360	NP_689573	Q86YE8	ZN573_HUMAN	zinc finger protein 573	401	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			GCTAAAGGCCTTTCCGCATTC	0.378		NA											66	198					0	0	0	0
ZNF814	730051	broad.mit.edu	37	19	58384572	58384572	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr19:58384572T>C	uc002qqo.2	-	3	2458	c.2186A>G	c.(2185-2187)TAC>TGC	p.Y729C	ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.1_Intron	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	729	C2H2-type 19.				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding				0						AATGAGTTGGTACTTGTTTCT	0.378		NA											4	8					0	0	0	0
MYCN	4613	broad.mit.edu	37	2	16085953	16085953	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr2:16085953T>A	uc002rci.2	+	3	1429	c.1129T>A	c.(1129-1131)TCG>ACG	p.S377T	MYCN_uc010yjr.1_Missense_Mutation_p.S369T	NM_005378	NP_005369	P04198	MYCN_HUMAN	v-myc myelocytomatosis viral related oncogene,	377					regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	5	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			AAACTCTGACTCGGAGGACAG	0.607		NA	A		neuroblastoma								34	31					0	0	0	0
NT5C1B	93034	broad.mit.edu	37	2	18766048	18766048	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr2:18766048T>C	uc002rcz.2	-	5	739	c.635A>G	c.(634-636)AAT>AGT	p.N212S	NT5C1B_uc002rcy.2_Missense_Mutation_p.N212S|NT5C1B_uc010exr.2_Missense_Mutation_p.N154S|NT5C1B_uc010yju.1_Missense_Mutation_p.N152S|NT5C1B_uc002rda.2_Missense_Mutation_p.N152S|NT5C1B_uc010yjv.1_Missense_Mutation_p.N229S|NT5C1B_uc010yjw.1_Missense_Mutation_p.N195S|NT5C1B_uc010exs.2_Missense_Mutation_p.N214S|NT5C1B_uc002rdb.1_Missense_Mutation_p.N4S	NM_001002006	NP_001002006	Q96P26	5NT1B_HUMAN	5' nucleotidase, cytosolic IB isoform 1	212					purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			skin(2)|ovary(1)	3	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				GGCCTCCGGATTCTCTTGCAT	0.701		NA											13	30					0	0	0	0
C2orf61	285051	broad.mit.edu	37	2	47382368	47382368	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr2:47382368G>A	uc002rvs.2	-	1	150	c.23C>T	c.(22-24)ACC>ATC	p.T8I	C2orf61_uc010fbd.2_Intron|C2orf61_uc010yog.1_Missense_Mutation_p.T8I	NM_173649	NP_775920	Q8N801	CB061_HUMAN	hypothetical protein LOC285051 isoform 2	8								p.0?(2)			0		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			GGTGGAAGCGGTGGCGACGGC	0.642		NA											21	28					0	0	0	0
OTX1	5013	broad.mit.edu	37	2	63283436	63283436	+	Silent	SNP	G	G	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr2:63283436G>T	uc002scd.2	+	5	1298	c.1050G>T	c.(1048-1050)CGG>CGT	p.R350R	OTX1_uc010ypt.1_Silent_p.R284R	NM_014562	NP_055377	P32242	OTX1_HUMAN	orthodenticle homeobox 1	350						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			pancreas(2)	2	Lung NSC(7;0.121)|all_lung(7;0.211)					CCTCATGGCGGTTCCAGGTCT	0.592		NA											6	34					2.01e-06	4.57e-06	1	0
SAP130	79595	broad.mit.edu	37	2	128712714	128712714	+	Silent	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr2:128712714C>T	uc002tpp.2	-	15	2373	c.2241G>A	c.(2239-2241)GCG>GCA	p.A747A	SAP130_uc002tpn.2_Silent_p.A507A|SAP130_uc002tpo.2_Silent_p.A527A|SAP130_uc010fmd.2_Silent_p.A782A|SAP130_uc002tpq.1_Silent_p.A755A	NM_024545	NP_078821	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa isoform b	747	Pro-rich.				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			ovary(2)|skin(2)	4	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		TGATGGGGACCGCTCCAGGAA	0.607		NA											13	75					0	0	0	0
LRP1B	53353	broad.mit.edu	37	2	141294272	141294272	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr2:141294272T>A	uc002tvj.1	-	46	8492	c.7520A>T	c.(7519-7521)AAT>ATT	p.N2507I		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	2507	Extracellular (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GCAGGAGGAATTTTTAGCTGC	0.318		NA								TSP Lung(27;0.18)			11	19					0	0	0	0
NOSTRIN	115677	broad.mit.edu	37	2	169690790	169690790	+	Silent	SNP	T	T	C			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr2:169690790T>C	uc002ueg.2	+	7	463	c.459T>C	c.(457-459)CTT>CTC	p.L153L	NOSTRIN_uc002uef.2_Silent_p.L153L|NOSTRIN_uc002uei.2_Silent_p.L36L|NOSTRIN_uc010fpu.2_Silent_p.L125L|NOSTRIN_uc002ueh.2_Silent_p.L75L|NOSTRIN_uc002uej.2_Silent_p.L36L	NM_001039724	NP_001034813	Q8IVI9	NOSTN_HUMAN	nitric oxide synthase trafficker isoform 2	153					endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	protein binding				0						TTTTCCAGCTTGTAGAAAGCT	0.443		NA											9	28					0	0	0	0
TTN	7273	broad.mit.edu	37	2	179612845	179612845	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr2:179612845C>A	uc002unb.2	-	46	14506	c.14282G>T	c.(14281-14283)AGT>ATT	p.S4761I	TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	titin isoform novex-3	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGAGATGGAACTTCTGCCTCC	0.408		NA											24	35					2.32e-17	5.57e-17	1	0
TNS1	7145	broad.mit.edu	37	2	218674659	218674659	+	Silent	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr2:218674659C>T	uc002vgt.2	-	30	5246	c.4848G>A	c.(4846-4848)CAG>CAA	p.Q1616Q	TNS1_uc002vgr.2_Silent_p.Q1602Q|TNS1_uc002vgs.2_Silent_p.Q1595Q|TNS1_uc002vgq.2_Silent_p.Q116Q	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	tensin	1616						cytoplasm|cytoskeleton|focal adhesion	actin binding			ovary(3)|breast(1)	4		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		TAGAGATGGCCTGTGGCCCAG	0.572		NA											15	14					0	0	0	0
SIRPB1	10326	broad.mit.edu	37	20	1551507	1551507	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr20:1551507C>T	uc010gai.2	-	4	1127	c.1028G>A	c.(1027-1029)AGC>AAC	p.S343N	SIRPB1_uc002wfk.3_Intron	NM_006065	NP_006056	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1 isoform 1	343	Ig-like C1-type 2.|Extracellular (Potential).				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			ovary(1)	1						CAGGGCATAGCTTTTGCTGAC	0.512		NA											31	125					0	0	0	0
TGM3	7053	broad.mit.edu	37	20	2315841	2315841	+	Silent	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr20:2315841G>A	uc002wfx.3	+	11	1819	c.1722G>A	c.(1720-1722)GCG>GCA	p.A574A		NM_003245	NP_003236	Q08188	TGM3_HUMAN	transglutaminase 3 precursor	574					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			large_intestine(4)|ovary(3)|breast(1)|skin(1)	9					L-Glutamine(DB00130)	GGATCACAGCGGTGTGCAAGG	0.552		NA											34	42					0	0	0	0
PLCB1	23236	broad.mit.edu	37	20	8709798	8709798	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr20:8709798T>C	uc002wnb.2	+	18	1868	c.1865T>C	c.(1864-1866)GTG>GCG	p.V622A	PLCB1_uc010zrb.1_Missense_Mutation_p.V521A|PLCB1_uc002wna.2_Missense_Mutation_p.V622A|PLCB1_uc002wnc.1_Missense_Mutation_p.V521A|PLCB1_uc002wnd.1_Missense_Mutation_p.V199A	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	phosphoinositide-specific phospholipase C beta 1	622	PI-PLC Y-box.				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						TGTCAGATGGTGGCACTTAAT	0.413		NA											11	48					0	0	0	0
U2AF1	7307	broad.mit.edu	37	21	44521539	44521539	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr21:44521539T>C	uc002zda.1	-	3	220	c.136A>G	c.(136-138)ATC>GTC	p.I46V	U2AF1_uc002zcy.1_Intron|U2AF1_uc002zcz.1_5'UTR|U2AF1_uc002zdb.1_Intron|U2AF1_uc010gpi.1_Intron|U2AF1_uc002zdc.1_Missense_Mutation_p.I46V	NM_001025203	NP_001020374	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxillary factor 1 isoform	46					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	Cajal body|catalytic step 2 spliceosome|nuclear speck	nucleotide binding|RNA binding|zinc ion binding				0						TGAATCAAGATGGTCTGCGGG	0.388		NA											134	107					0	0	0	0
IL2RB	3560	broad.mit.edu	37	22	37538536	37538536	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr22:37538536A>T	uc003aqv.1	-	4	351	c.220T>A	c.(220-222)TGT>AGT	p.C74S		NM_000878	NP_000869	P14784	IL2RB_HUMAN	interleukin 2 receptor beta precursor	74	Extracellular (Potential).				interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity				0					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	AGCAGCTCACAGGTTTGGTTC	0.582		NA											13	71					0	0	0	0
TAB1	10454	broad.mit.edu	37	22	39832515	39832515	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr22:39832515G>A	uc003axu.1	+	11	1377	c.1328G>A	c.(1327-1329)AGC>AAC	p.S443N		NM_153497	NP_705717	Q15750	TAB1_HUMAN	mitogen-activated protein kinase kinase kinase 7	Error:Variant_position_missing_in_Q15750_after_alignment					activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane	catalytic activity|protein binding			breast(1)	1						AGGCCTGCAAGCGATTTGACA	0.438		NA											9	104					0	0	0	0
ATF4	468	broad.mit.edu	37	22	39917879	39917879	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr22:39917879G>A	uc003axz.2	+	3	608	c.328G>A	c.(328-330)GAT>AAT	p.D110N	ATF4_uc011aol.1_Missense_Mutation_p.D22N|ATF4_uc003aya.2_Missense_Mutation_p.D110N	NM_182810	NP_877962	P18848	ATF4_HUMAN	activating transcription factor 4	110					cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter	cytoplasm|plasma membrane	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	Melanoma(58;0.04)					AACCATGCCAGATGACCTTCT	0.517		NA											47	211					0	0	0	0
GRIP2	80852	broad.mit.edu	37	3	14552798	14552798	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr3:14552798C>T	uc011avi.1	-	17	2102	c.2102G>A	c.(2101-2103)GGC>GAC	p.G701D	GRIP2_uc010heh.2_RNA|GRIP2_uc011avh.1_Missense_Mutation_p.G232D	NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2	603	PDZ 5.				synaptic transmission	cytosol|plasma membrane	protein binding			pancreas(1)	1						TAGCTTGTCGCCTGGCTCCAG	0.617		NA											21	21					0	0	0	0
USP4	7375	broad.mit.edu	37	3	49329942	49329942	+	Splice_Site	SNP	C	C	G			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr3:49329942C>G	uc003cwq.2	-	15	2051	c.1972_splice	c.e15+1	p.G658_splice	USP4_uc003cwo.2_Splice_Site_p.G370_splice|USP4_uc003cwp.2_Splice_Site_p.G388_splice|USP4_uc003cwr.2_Splice_Site_p.G611_splice	NM_003363	NP_003354	Q13107	UBP4_HUMAN	ubiquitin specific protease 4 isoform a						negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(2)|urinary_tract(1)|lung(1)	4		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		TGCATACTCACCTTCACAGCT	0.512		NA											5	3					0	0	0	0
CACNA1D	776	broad.mit.edu	37	3	53804530	53804530	+	Missense_Mutation	SNP	G	G	A	rs148194645		TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr3:53804530G>A	uc003dgv.3	+	32	4158	c.3995G>A	c.(3994-3996)AGG>AAG	p.R1332K	CACNA1D_uc003dgu.3_Missense_Mutation_p.R1352K|CACNA1D_uc003dgy.3_Missense_Mutation_p.R1317K|CACNA1D_uc003dgw.3_Missense_Mutation_p.R999K|CACNA1D_uc003dgx.1_Missense_Mutation_p.R508K	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,	1332	IV.|Helical; Name=S4 of repeat IV; (Potential).				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	CTTCTCAGCAGGGGGGAAGGC	0.448		NA											25	22					0	0	0	0
C3orf63	23272	broad.mit.edu	37	3	56657144	56657144	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr3:56657144C>G	uc003did.3	-	23	4852	c.4751G>C	c.(4750-4752)AGC>ACC	p.S1584T	C3orf63_uc003dib.3_Missense_Mutation_p.S703T|C3orf63_uc003dic.3_Missense_Mutation_p.S1208T|C3orf63_uc003die.3_3'UTR	NM_015224	NP_056039	Q9UK61	CC063_HUMAN	retinoblastoma-associated protein 140 isoform b	1645										ovary(3)|kidney(1)|central_nervous_system(1)	5				KIRC - Kidney renal clear cell carcinoma(284;0.0126)|Kidney(284;0.0147)		TCTATCCAAGCTTTCAGTATA	0.363		NA											27	28					0	0	0	0
ZNF654	55279	broad.mit.edu	37	3	88189761	88189761	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr3:88189761G>C	uc003dqv.2	+	1	1500	c.1301G>C	c.(1300-1302)AGT>ACT	p.S434T	CGGBP1_uc003dqu.2_Intron	NM_018293	NP_060763	Q8IZM8	ZN654_HUMAN	zinc finger protein 654	434					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Lung NSC(201;0.0283)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		AATGGACACAGTGAAATAGAG	0.353		NA											36	31					0	0	0	0
OR5H15	403274	broad.mit.edu	37	3	97888271	97888271	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr3:97888271C>A	uc011bgu.1	+	1	728	c.728C>A	c.(727-729)GCC>GAC	p.A243D		NM_001005515	NP_001005515	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H,	243	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						ACCTGTGGAGCCCATCTCTTC	0.428		NA											21	65					1.18e-14	2.81e-14	1	0
TMEM108	66000	broad.mit.edu	37	3	133099858	133099858	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr3:133099858C>T	uc003eph.2	+	4	1577	c.1303C>T	c.(1303-1305)CCC>TCC	p.P435S	TMEM108_uc003epi.2_Missense_Mutation_p.P435S|TMEM108_uc003epj.1_Missense_Mutation_p.P435S|TMEM108_uc003epk.2_Intron|TMEM108_uc003epm.2_Missense_Mutation_p.P386S	NM_023943	NP_076432	Q6UXF1	TM108_HUMAN	transmembrane protein 108 precursor	435	Extracellular (Potential).					integral to membrane				ovary(2)|skin(2)	4						CCGCCTGGTCCCCGCCGGGAC	0.632		NA											22	36					0	0	0	0
KLHL24	54800	broad.mit.edu	37	3	183368452	183368452	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr3:183368452G>A	uc003flv.2	+	3	603	c.308G>A	c.(307-309)CGA>CAA	p.R103Q	KLHL24_uc003flw.2_Missense_Mutation_p.R103Q|KLHL24_uc003flx.2_Missense_Mutation_p.R103Q	NM_017644	NP_060114	Q6TFL4	KLH24_HUMAN	DRE1 protein	103	BTB.					axon|cytoplasm|perikaryon				ovary(1)	1	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			AGGGAAAGCCGAGAAATGTTG	0.398		NA											42	103					0	0	0	0
YEATS2	55689	broad.mit.edu	37	3	183521945	183521945	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr3:183521945G>C	uc003fly.2	+	27	3948	c.3753G>C	c.(3751-3753)GAG>GAC	p.E1251D	uc003fma.1_3'UTR	NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	1251					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			ovary(3)|large_intestine(1)	4	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			ACTCCATCGAGGACGTGCTGA	0.612		NA											10	85					0	0	0	0
TMEM175	84286	broad.mit.edu	37	4	949582	949582	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr4:949582C>T	uc003gbq.2	+	10	844	c.746C>T	c.(745-747)TCG>TTG	p.S249L	TMEM175_uc010ibl.1_Missense_Mutation_p.S249L|TMEM175_uc003gbp.1_Missense_Mutation_p.S167L|TMEM175_uc003gbr.2_Missense_Mutation_p.S167L|TMEM175_uc003gbu.2_Missense_Mutation_p.S167L|TMEM175_uc003gbs.2_Missense_Mutation_p.S132L|TMEM175_uc003gbt.2_Missense_Mutation_p.S132L|TMEM175_uc003gbv.2_Missense_Mutation_p.S132L|TMEM175_uc010ibm.2_Missense_Mutation_p.S65L	NM_032326	NP_115702	Q9BSA9	TM175_HUMAN	transmembrane protein 175	249						integral to membrane					0			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GAAGTCTTCTCGTTTGACCTC	0.637		NA											7	20					0	0	0	0
FGFR3	2261	broad.mit.edu	37	4	1801019	1801019	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr4:1801019G>A	uc003gdr.3	+	3	404	c.148G>A	c.(148-150)GTC>ATC	p.V50I	FGFR3_uc003gdu.2_Missense_Mutation_p.V50I|FGFR3_uc003gds.3_Missense_Mutation_p.V50I|FGFR3_uc003gdq.3_Missense_Mutation_p.V50I|FGFR3_uc010icb.1_5'Flank|FGFR3_uc003gdt.1_5'Flank	NM_000142	NP_000133	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3 isoform 1	50	Ig-like C2-type 1.|Extracellular (Potential).				bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1)	2600		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	GGAGCAGTTGGTCTTCGGCAG	0.677		1	Mis|T	IGH@|ETV6	bladder|MM|T-cell lymphoma		Hypochondroplasia|Thanatophoric dysplasia		Muenke_syndrome|Saethre-Chotzen_syndrome				14	61					0	0	0	0
GRID2	2895	broad.mit.edu	37	4	94031921	94031921	+	Silent	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr4:94031921C>T	uc011cdt.1	+	4	810	c.552C>T	c.(550-552)TTC>TTT	p.F184F	GRID2_uc010ikx.2_Silent_p.F184F|GRID2_uc011cdu.1_Silent_p.F89F|GRID2_uc011cdv.1_RNA	NM_001510	NP_001501	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	184	Extracellular (Potential).				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(3)|skin(2)|large_intestine(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	TACAGGAGTTCTTGGACAAAG	0.383		NA											20	71					0	0	0	0
DKK2	27123	broad.mit.edu	37	4	107956552	107956552	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr4:107956552C>G	uc003hyi.2	-	1	902	c.197G>C	c.(196-198)AGT>ACT	p.S66T	DKK2_uc010ilw.1_Intron|DKK2_uc003hyj.1_Missense_Mutation_p.S66T	NM_014421	NP_055236	Q9UBU2	DKK2_HUMAN	dickkopf homolog 2 precursor	66					multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space				ovary(3)|lung(1)|skin(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		GCCCTTCTTACTGCCGCCGAA	0.577		NA											14	34					0	0	0	0
PCDH10	57575	broad.mit.edu	37	4	134072702	134072702	+	Silent	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr4:134072702C>T	uc003iha.2	+	1	2233	c.1407C>T	c.(1405-1407)GAC>GAT	p.D469D	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Silent_p.D469D	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	469	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		CGGTCTACGACGTGTATGTGA	0.622		NA											31	63					0	0	0	0
STOX2	56977	broad.mit.edu	37	4	184931970	184931970	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr4:184931970G>A	uc003ivz.1	+	3	3414	c.1979G>A	c.(1978-1980)GGG>GAG	p.G660E	STOX2_uc003iwa.1_Missense_Mutation_p.G349E	NM_020225	NP_064610	Q9P2F5	STOX2_HUMAN	storkhead box 2	660					embryo development|maternal placenta development						0		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		TCACCAAAAGGGCCGGGTGGG	0.642		NA											5	13					0	0	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5237176	5237176	+	Silent	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr5:5237176G>A	uc003jdl.2	+	14	2256	c.2118G>A	c.(2116-2118)GAG>GAA	p.E706E	ADAMTS16_uc003jdk.1_Silent_p.E706E|ADAMTS16_uc010itk.1_Intron	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	706	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						CATGCTCGGAGGATAGCCGTA	0.284		NA											36	60					0	0	0	0
DNAH5	1767	broad.mit.edu	37	5	13769209	13769209	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr5:13769209C>T	uc003jfd.2	-	58	9799	c.9757G>A	c.(9757-9759)GAA>AAA	p.E3253K	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3253	Stalk (By similarity).|Potential.				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					TTGACCTTTTCAGCAGCCTGT	0.428		NA							Kartagener_syndrome				102	260					0	0	0	0
DNAJC21	134218	broad.mit.edu	37	5	34945007	34945007	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr5:34945007A>G	uc003jjc.2	+	8	1246	c.1019A>G	c.(1018-1020)GAA>GGA	p.E340G	DNAJC21_uc003jjb.2_Missense_Mutation_p.E340G|DNAJC21_uc010iuu.1_Missense_Mutation_p.E224G|DNAJC21_uc003jjd.2_5'Flank	NM_001012339	NP_001012339	Q5F1R6	DJC21_HUMAN	DnaJ homology subfamily A member 5 isoform 2	340	Glu-rich.				protein folding	ribosome	heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding			breast(1)|skin(1)	2	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			AAGCATCGGGAAATGGTGGCC	0.408		NA											115	137					0	0	0	0
WDR70	55100	broad.mit.edu	37	5	37480011	37480011	+	Silent	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr5:37480011G>A	uc003jkv.2	+	8	820	c.762G>A	c.(760-762)AAG>AAA	p.K254K	WDR70_uc010iva.1_Silent_p.K254K	NM_018034	NP_060504	Q9NW82	WDR70_HUMAN	WD repeat domain 70	254	WD 2.							p.K254M(1)		ovary(1)|central_nervous_system(1)	2	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTCAGGCCAAGGTGATTGACA	0.383		NA											19	106					0	0	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41054880	41054880	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr5:41054880G>T	uc003jmj.3	-	11	1586	c.1096C>A	c.(1096-1098)CTC>ATC	p.L366I	HEATR7B2_uc003jmi.3_Intron	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	HEAT repeat family member 7B2	366							binding			ovary(6)|central_nervous_system(2)	8						TTTGTACTGAGATCACCCATG	0.363		NA											39	74					3.09e-21	7.44e-21	1	0
PDE8B	8622	broad.mit.edu	37	5	76714063	76714063	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr5:76714063G>A	uc003kfa.2	+	18	1966	c.1921G>A	c.(1921-1923)GAT>AAT	p.D641N	PDE8B_uc003kfb.2_Missense_Mutation_p.D621N|PDE8B_uc003kfc.2_Missense_Mutation_p.D586N|PDE8B_uc003kfd.2_Missense_Mutation_p.D594N|PDE8B_uc003kfe.2_Missense_Mutation_p.D544N	NM_003719	NP_003710	O95263	PDE8B_HUMAN	phosphodiesterase 8B isoform 1	641	Catalytic (By similarity).				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity				0		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		GGGAAGCCTCGATCAGTTGGA	0.577		NA											11	24					0	0	0	0
TGFBI	7045	broad.mit.edu	37	5	135383029	135383029	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr5:135383029C>T	uc003lbf.3	+	6	852	c.691C>T	c.(691-693)CTC>TTC	p.L231F	TGFBI_uc003lbg.3_5'UTR|TGFBI_uc003lbh.3_Missense_Mutation_p.L57F|TGFBI_uc011cyb.1_Missense_Mutation_p.L57F|TGFBI_uc010jed.2_5'Flank	NM_000358	NP_000349	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	231	FAS1 1.				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(3)|ovary(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGTGGTGCACCTCATCGATAA	0.547		NA											77	74					0	0	0	0
ODZ2	57451	broad.mit.edu	37	5	167552005	167552005	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr5:167552005C>T	uc010jjd.2	+	11	2159	c.2159C>T	c.(2158-2160)ACG>ATG	p.T720M	ODZ2_uc003lzr.3_Missense_Mutation_p.T488M|ODZ2_uc003lzt.3_Missense_Mutation_p.T84M|ODZ2_uc010jje.2_Translation_Start_Site|uc003lzs.1_Intron	NM_001122679	NP_001116151			odz, odd Oz/ten-m homolog 2											ovary(6)|central_nervous_system(4)	10	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		CTGCCTGACACGGGCCTCTGC	0.612		NA											4	8					0	0	0	0
NSD1	64324	broad.mit.edu	37	5	176673717	176673717	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr5:176673717C>T	uc003mfr.3	+	10	4555	c.4417C>T	c.(4417-4419)CGA>TGA	p.R1473*	NSD1_uc003mft.3_Nonsense_Mutation_p.R1204*|NSD1_uc003mfs.1_Nonsense_Mutation_p.R1370*|NSD1_uc011dfx.1_Nonsense_Mutation_p.R1121*	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1473					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			ovary(2)|kidney(1)	3	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GAAGCGAAAACGACAGAGGCA	0.423		NA	T	NUP98	AML		Sotos Syndrome		Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	HNSCC(47;0.14)			33	24					0	0	0	0
RANBP9	10048	broad.mit.edu	37	6	13639954	13639954	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr6:13639954T>C	uc003nbb.2	-	9	1425	c.1366A>G	c.(1366-1368)ACA>GCA	p.T456A	RANBP9_uc003nba.2_Missense_Mutation_p.T115A	NM_005493	NP_005484	Q96S59	RANB9_HUMAN	RAN binding protein 9	456	CTLH.				axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding			lung(1)|skin(1)	2	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			TCACTATCTGTACCATTCACC	0.388		NA											11	31					0	0	0	0
EHMT2	10919	broad.mit.edu	37	6	31855962	31855962	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr6:31855962G>A	uc003nxz.1	-	13	1611	c.1601C>T	c.(1600-1602)CCC>CTC	p.P534L	EHMT2_uc003nxx.1_5'Flank|EHMT2_uc003nxy.1_Missense_Mutation_p.P325L|EHMT2_uc011don.1_Missense_Mutation_p.P557L|EHMT2_uc003nya.1_Missense_Mutation_p.P500L	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	534					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			ovary(1)	1						CCCACAGTGGGGACAGAAGAC	0.652		NA											9	37					0	0	0	0
ZBTB9	221504	broad.mit.edu	37	6	33423997	33423997	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr6:33423997G>A	uc003oeq.2	+	2	1388	c.1120G>A	c.(1120-1122)GGG>AGG	p.G374R		NM_152735	NP_689948	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	374	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TGTGAAGCTAGGGGGGACACC	0.587		NA											10	19					0	0	0	0
PACSIN1	29993	broad.mit.edu	37	6	34499414	34499414	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr6:34499414G>A	uc003ojo.2	+	9	1281	c.1075G>A	c.(1075-1077)GAG>AAG	p.E359K	PACSIN1_uc003ojp.2_Missense_Mutation_p.E359K	NM_020804	NP_065855	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in	359					endocytosis		protein kinase activity				0						CTACGCCACCGAGTGGTCAGA	0.647		NA											34	121					0	0	0	0
DAAM2	23500	broad.mit.edu	37	6	39859202	39859202	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr6:39859202G>A	uc003oow.2	+	18	2387	c.2231G>A	c.(2230-2232)CGC>CAC	p.R744H	DAAM2_uc003oox.2_Missense_Mutation_p.R744H	NM_015345	NP_056160	Q86T65	DAAM2_HUMAN	dishevelled associated activator of	744	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			ovary(2)|skin(1)	3	Ovarian(28;0.0355)|Colorectal(47;0.196)					CGTGCTGACCGCTTCCTCTAT	0.577		NA											4	12					0	0	0	0
SYNE1	23345	broad.mit.edu	37	6	152527463	152527463	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr6:152527463C>G	uc010kiw.2	-	126	23461	c.22859G>C	c.(22858-22860)AGC>ACC	p.S7620T	SYNE1_uc010kiv.2_Missense_Mutation_p.S2144T|SYNE1_uc003qos.3_Missense_Mutation_p.S2144T|SYNE1_uc003qot.3_Missense_Mutation_p.S7549T|SYNE1_uc003qou.3_Missense_Mutation_p.S7620T|SYNE1_uc003qor.3_Missense_Mutation_p.S520T	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7620	Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CAGGATGTAGCTGCCTTGTTG	0.478		NA								HNSCC(10;0.0054)			9	40					0	0	0	0
PMS2	5395	broad.mit.edu	37	7	6045547	6045547	+	Silent	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr7:6045547G>A	uc003spl.2	-	2	226	c.139C>T	c.(139-141)CTG>TTG	p.L47L	PMS2_uc003spj.2_5'Flank|PMS2_uc003spk.2_5'UTR|PMS2_uc011jwl.1_Intron|PMS2_uc010ktg.2_5'UTR|PMS2_uc010kte.2_Silent_p.L47L|PMS2_uc010ktf.1_Silent_p.L47L	NM_000535	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 isoform	47					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			lung(1)|central_nervous_system(1)	2		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		CCAGCATCCAGACTGTTTTCT	0.413		NA	Mis|N|F			colorectal|endometrial|ovarian|medulloblastoma|glioma		Direct_reversal_of_damage|MMR	Lynch_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome				69	336					0	0	0	0
ABCB5	340273	broad.mit.edu	37	7	20683197	20683197	+	Missense_Mutation	SNP	C	C	T	rs138449195	by1000genomes	TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr7:20683197C>T	uc010kuh.2	+	7	857	c.620C>T	c.(619-621)ACC>ATC	p.T207I		NM_001163941	NP_001157413	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B, member 5	393	Helical; (Potential).|ABC transmembrane type-1.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1)	6						TGGAAACTCACCCTAGTGACT	0.443		NA											32	44					0	0	0	0
DNAH11	8701	broad.mit.edu	37	7	21940799	21940799	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr7:21940799C>T	uc003svc.2	+	83	13530	c.13499C>T	c.(13498-13500)ACC>ATC	p.T4500I	CDCA7L_uc003sve.3_3'UTR|CDCA7L_uc010kuk.2_3'UTR|CDCA7L_uc010kul.2_3'UTR|CDCA7L_uc003svf.3_3'UTR	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	4500					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						TACATCTGGACCTTCAGGCTG	0.512		NA							Kartagener_syndrome				21	41					0	0	0	0
OGDH	4967	broad.mit.edu	37	7	44739836	44739836	+	Silent	SNP	C	C	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr7:44739836C>A	uc003tln.2	+	19	2636	c.2527C>A	c.(2527-2529)CGA>AGA	p.R843R	OGDH_uc011kbx.1_Silent_p.R839R|OGDH_uc011kby.1_Silent_p.R693R|OGDH_uc003tlp.2_Silent_p.R854R|OGDH_uc011kbz.1_Silent_p.R638R	NM_002541	NP_002532	Q02218	ODO1_HUMAN	oxoglutarate dehydrogenase isoform 1 precursor	843					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			upper_aerodigestive_tract(1)|ovary(1)	2					NADH(DB00157)	CCACGTGCTACGACGCCAGAT	0.572		NA											20	85					4.35e-09	1.01e-08	1	0
ZNF107	51427	broad.mit.edu	37	7	64166756	64166756	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr7:64166756C>T	uc003ttd.2	+	7	860	c.74C>T	c.(73-75)TCT>TTT	p.S25F	ZNF107_uc003tte.2_Missense_Mutation_p.S25F	NM_016220	NP_057304	Q9UII5	ZN107_HUMAN	zinc finger protein 107	25					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Lung NSC(55;0.00948)|all_lung(88;0.0249)				ATAAAAGATTCTTTCCAGAAA	0.358		NA											33	33					0	0	0	0
ANKIB1	54467	broad.mit.edu	37	7	92015905	92015905	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr7:92015905G>A	uc003ulw.2	+	12	2076	c.1700G>A	c.(1699-1701)CGC>CAC	p.R567H	ANKIB1_uc010lew.1_5'UTR	NM_019004	NP_061877	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	567							protein binding|zinc ion binding			lung(1)	1	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGATGTACTCGCTATGAAGTC	0.423		NA											17	14					0	0	0	0
SLC26A5	375611	broad.mit.edu	37	7	103018069	103018069	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr7:103018069C>A	uc003vbz.2	-	18	2199	c.1963G>T	c.(1963-1965)GTT>TTT	p.V655F	SLC26A5_uc003vbt.1_Missense_Mutation_p.V655F|SLC26A5_uc003vbu.1_Intron|SLC26A5_uc003vbv.1_Intron|SLC26A5_uc003vbw.2_RNA|SLC26A5_uc003vbx.2_Missense_Mutation_p.V623F|SLC26A5_uc003vby.2_RNA|SLC26A5_uc010liy.2_RNA	NM_198999	NP_945350	P58743	S26A5_HUMAN	prestin isoform a	655	Cytoplasmic (Potential).|STAS.				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			ovary(1)	1						TTCACTCCAACAGAATCAATA	0.438		NA											13	58					4.38e-07	1.01e-06	1	0
ZC3HAV1	56829	broad.mit.edu	37	7	138738294	138738294	+	Silent	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr7:138738294G>A	uc003vun.2	-	12	2740	c.2352C>T	c.(2350-2352)CTC>CTT	p.L784L		NM_020119	NP_064504	Q7Z2W4	ZCCHV_HUMAN	zinc finger antiviral protein isoform 1	784	PARP catalytic.				response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			ovary(1)	1						CATAAAATAGGAGTTTTCCTT	0.383		NA											18	39					0	0	0	0
PRKAG2	51422	broad.mit.edu	37	7	151372597	151372597	+	Missense_Mutation	SNP	G	G	T	rs41317142		TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr7:151372597G>T	uc003wkk.2	-	4	1204	c.593C>A	c.(592-594)CCG>CAG	p.P198Q	PRKAG2_uc011kvl.1_Missense_Mutation_p.P74Q|PRKAG2_uc003wkj.2_Missense_Mutation_p.P154Q|PRKAG2_uc010lqe.1_RNA|PRKAG2_uc003wkm.1_Missense_Mutation_p.P198Q	NM_016203	NP_057287	Q9UGJ0	AAKG2_HUMAN	AMP-activated protein kinase gamma2 subunit	198					ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process	AMP-activated protein kinase complex|cytosol|nucleoplasm	ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding			breast(1)|kidney(1)	2	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)		CCCTGTGTCCGGGGGGGAAGA	0.582		NA											4	73					0.000602214	0.00130072	1	0
ZNF596	169270	broad.mit.edu	37	8	195353	195353	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr8:195353G>A	uc003wot.2	+	6	794	c.506G>A	c.(505-507)AGT>AAT	p.S169N	ZNF596_uc003wou.2_Missense_Mutation_p.S68N|ZNF596_uc003wov.2_Missense_Mutation_p.S169N|ZNF596_uc003wow.2_Missense_Mutation_p.S169N	NM_173539	NP_775810	Q8TC21	ZN596_HUMAN	zinc finger protein 596	169					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242)		Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702)		TCATATGGAAGTCATCTATTT	0.373		NA											18	29					0	0	0	0
DLC1	10395	broad.mit.edu	37	8	13356766	13356766	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr8:13356766G>A	uc003wwm.2	-	2	1259	c.815C>T	c.(814-816)ACA>ATA	p.T272I	DLC1_uc003wwn.2_Missense_Mutation_p.T272I|DLC1_uc011kxy.1_Missense_Mutation_p.T272I	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	272					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						TCCAAAATCTGTTTTTAATAA	0.428		NA											15	153					0	0	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68130079	68130079	+	Silent	SNP	T	T	C	rs145845893	byFrequency	TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr8:68130079T>C	uc003xxo.1	-	32	4941	c.4551A>G	c.(4549-4551)CTA>CTG	p.L1517L	ARFGEF1_uc003xxl.1_Silent_p.L971L|ARFGEF1_uc003xxn.1_Silent_p.L500L	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	brefeldin A-inhibited guanine	1517					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			CCCAGATTTCTAGGGTAAATT	0.343		NA											26	33					0	0	0	0
ZNF517	340385	broad.mit.edu	37	8	146033063	146033063	+	Silent	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr8:146033063C>T	uc003zed.1	+	5	869	c.762C>T	c.(760-762)GTC>GTT	p.V254V	ZNF517_uc010mgd.1_Silent_p.V160V|ZNF517_uc003zee.1_RNA|ZNF517_uc011llm.1_Silent_p.V160V|ZNF517_uc003zef.1_Intron	NM_213605	NP_998770	Q6ZMY9	ZN517_HUMAN	zinc finger protein 517	254	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			ACCACCGCGTCCACACCCGCG	0.692		NA											10	16					0	0	0	0
ZNF16	7564	broad.mit.edu	37	8	146157090	146157090	+	Silent	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr8:146157090G>A	uc003zet.2	-	4	1270	c.1083C>T	c.(1081-1083)AGC>AGT	p.S361S	ZNF16_uc003zeu.2_Silent_p.S361S	NM_001029976	NP_001025147	P17020	ZNF16_HUMAN	zinc finger protein 16	361	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		TGAGGTTTGAGCTTCGCCTGA	0.522		NA											25	47					0	0	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971186	21971186	+	Nonsense_Mutation	SNP	G	G	A	rs121913387		TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr9:21971186G>A	uc003zpk.2	-	2	384	c.172C>T	c.(172-174)CGA>TGA	p.R58*	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.P113L	NM_000077	NP_000068	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A isoform 1	58	ANK 2.				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	p.0?(1112)|p.R58*(68)|p.?(14)|p.M53_R58del(3)|p.R58fs*59(2)|p.M54fs*61(2)|p.R58fs*89(1)|p.R58R(1)|p.V28_V51del(1)|p.A57_R58>V*(1)|p.R58fs*61(1)|p.R58fs*62(1)|p.G55fs*86(1)|p.R58Q(1)|p.P113L(1)|p.A57fs*85(1)		haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TCCGCCACTCGGGCGCTGCCC	0.677		17							Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			5	5					0	0	0	0
MAMDC2	256691	broad.mit.edu	37	9	72723128	72723128	+	Silent	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr9:72723128C>T	uc004ahm.2	+	3	767	c.150C>T	c.(148-150)GGC>GGT	p.G50G	MAMDC2_uc004ahn.2_RNA	NM_153267	NP_694999	Q7Z304	MAMC2_HUMAN	MAM domain containing 2 precursor	50	MAM 1.					endoplasmic reticulum|membrane				central_nervous_system(1)|pancreas(1)	2						TCTTTCCAGGCCATTACATTT	0.448		NA											8	51					0	0	0	0
FLJ46321	389763	broad.mit.edu	37	9	84607724	84607724	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr9:84607724T>C	uc004amn.2	+	4	2386	c.2339T>C	c.(2338-2340)GTC>GCC	p.V780A		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	hypothetical protein LOC389763	780						integral to membrane					0						CAGGAGACTGTCCCAAAAGAT	0.473		NA											30	42					0	0	0	0
WNK2	65268	broad.mit.edu	37	9	96051365	96051365	+	Silent	SNP	G	G	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr9:96051365G>A	uc004ati.1	+	20	4440	c.4440G>A	c.(4438-4440)CCG>CCA	p.P1480P	WNK2_uc011lud.1_Silent_p.P1443P|WNK2_uc004atj.2_Silent_p.P1443P|WNK2_uc004atk.2_Silent_p.P1080P|WNK2_uc004atl.1_Silent_p.P38P	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1480					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			lung(4)|stomach(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)|breast(1)	12						ACGAGGCCCCGCTTGCTGTGC	0.677		NA											8	0					0	0	0	0
FANCC	2176	broad.mit.edu	37	9	98011545	98011545	+	Missense_Mutation	SNP	C	C	T	rs143152201	byFrequency	TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr9:98011545C>T	uc004avh.2	-	2	291	c.29G>A	c.(28-30)TGT>TAT	p.C10Y	FANCC_uc004avi.3_Missense_Mutation_p.C10Y|FANCC_uc010mrm.1_RNA|FANCC_uc011lul.1_RNA	NM_000136	NP_000127	Q00597	FANCC_HUMAN	Fanconi anemia, complementation group C	10					protein complex assembly	cytosol|nucleoplasm	protein binding			kidney(1)	1		Acute lymphoblastic leukemia(62;0.138)				CTGATAATCACAAGAAAGATC	0.478		NA	D|Mis|N|F|S			AML|leukemia		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				16	9					0	0	0	0
TEX10	54881	broad.mit.edu	37	9	103092287	103092287	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr9:103092287G>C	uc004bas.2	-	6	1630	c.1415C>G	c.(1414-1416)TCT>TGT	p.S472C	TEX10_uc011lvf.1_Missense_Mutation_p.S311C|TEX10_uc011lvg.1_Missense_Mutation_p.S475C|TEX10_uc011lvh.1_Missense_Mutation_p.S407C	NM_017746	NP_060216	Q9NXF1	TEX10_HUMAN	testis expressed 10 isoform 1	472						integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		ATTTAGCCTAGAGCCATCTTC	0.423		NA											49	43					0	0	0	0
MURC	347273	broad.mit.edu	37	9	103348551	103348551	+	Missense_Mutation	SNP	C	C	A	rs148950537		TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr9:103348551C>A	uc004bba.2	+	2	1003	c.913C>A	c.(913-915)CCC>ACC	p.P305T		NM_001018116	NP_001018126	Q5BKX8	MURC_HUMAN	muscle-related coiled-coil protein	305					cell differentiation|muscle organ development|transcription, DNA-dependent					ovary(1)	1		Acute lymphoblastic leukemia(62;0.0461)				GTCTCTGGGCCCCATCAGTGA	0.587		NA											5	62					0.00307968	0.00660153	1	0
MEGF9	1955	broad.mit.edu	37	9	123476100	123476100	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr9:123476100G>T	uc004bkj.1	-	1	513	c.513C>A	c.(511-513)AGC>AGA	p.S171R	MEGF9_uc011lyb.1_Missense_Mutation_p.S171R|MEGF9_uc004bkk.3_Missense_Mutation_p.S171R	NM_001080497	NP_001073966	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	179	Extracellular (Potential).|Pro-rich.					integral to membrane	calcium ion binding				0						TGTTGCTGCTGCTGGGGAGAT	0.731		NA											5	32					0.00198382	0.00426321	1	0
PTGS1	5742	broad.mit.edu	37	9	125148893	125148893	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr9:125148893C>G	uc004bmg.1	+	9	1313	c.1178C>G	c.(1177-1179)TCC>TGC	p.S393C	PTGS1_uc011lys.1_Missense_Mutation_p.S368C|PTGS1_uc010mwb.1_Missense_Mutation_p.S284C|PTGS1_uc004bmf.1_Missense_Mutation_p.S393C|PTGS1_uc004bmh.1_Missense_Mutation_p.S284C|PTGS1_uc011lyt.1_Missense_Mutation_p.S284C	NM_000962	NP_000953	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 isoform 1	393					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			ovary(1)|skin(1)	2					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	ATGCCTGACTCCTTCAAGGTG	0.552		NA											77	40					0	0	0	0
REXO4	57109	broad.mit.edu	37	9	136277920	136277920	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr9:136277920C>T	uc004cdm.2	-	3	894	c.694G>A	c.(694-696)GTG>ATG	p.V232M	ADAMTS13_uc004cdp.3_5'Flank|REXO4_uc011mde.1_Missense_Mutation_p.V95M|REXO4_uc011mdf.1_Missense_Mutation_p.V95M|REXO4_uc004cdn.2_Translation_Start_Site|REXO4_uc004cdo.2_Intron	NM_020385	NP_065118	Q9GZR2	REXO4_HUMAN	XPMC2 prevents mitotic catastrophe 2 homolog	232						nucleolus	exonuclease activity|nucleic acid binding|sequence-specific DNA binding transcription factor activity				0				OV - Ovarian serous cystadenocarcinoma(145;8.58e-08)|Epithelial(140;9.55e-07)|all cancers(34;1.05e-05)		TGCTCTTTCACGAGGCTGAGG	0.627		NA											10	27					0	0	0	0
KLHL15	80311	broad.mit.edu	37	X	24006507	24006507	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chrX:24006507C>T	uc004dba.3	-	4	1602	c.1346G>A	c.(1345-1347)AGC>AAC	p.S449N		NM_030624	NP_085127	Q96M94	KLH15_HUMAN	kelch-like 15	449	Kelch 3.									ovary(1)|breast(1)	2						CCCTTCTTTGCTGGGGTCAAA	0.458		NA											44	30					0	0	0	0
ABCB7	22	broad.mit.edu	37	X	74334622	74334622	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chrX:74334622T>A	uc004eca.2	-	2	238	c.213A>T	c.(211-213)AAA>AAT	p.K71N	ABCB7_uc004ebz.2_Missense_Mutation_p.K72N|ABCB7_uc011mqn.1_Intron|ABCB7_uc010nls.2_Missense_Mutation_p.K72N|ABCB7_uc010nlt.2_Missense_Mutation_p.K71N	NM_004299	NP_004290	O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B, member 7	71					cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity			ovary(1)	1						CTGAATTGCCTTTTCCCAATC	0.388		NA											16	8					0	0	0	0
DRP2	1821	broad.mit.edu	37	X	100497390	100497390	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chrX:100497390C>G	uc004egz.2	+	8	1274	c.905C>G	c.(904-906)TCT>TGT	p.S302C	DRP2_uc011mrh.1_Missense_Mutation_p.S224C	NM_001939	NP_001930	Q13474	DRP2_HUMAN	dystrophin related protein 2	302	Spectrin 2.				central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			ovary(2)	2						CTTGCCATTTCTGATGTGCAC	0.498		NA											93	43					0	0	0	0
AFF2	2334	broad.mit.edu	37	X	147733537	147733537	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chrX:147733537G>T	uc004fcp.2	+	2	544	c.65G>T	c.(64-66)CGT>CTT	p.R22L	AFF2_uc004fco.2_Missense_Mutation_p.R22L|AFF2_uc004fcq.2_Missense_Mutation_p.R22L|AFF2_uc004fcr.2_Missense_Mutation_p.R22L|AFF2_uc011mxb.1_Missense_Mutation_p.R22L|AFF2_uc004fcs.2_Missense_Mutation_p.R22L	NM_002025	NP_002016	P51816	AFF2_HUMAN	fragile X mental retardation 2	22					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			ovary(3)|pancreas(2)	5	Acute lymphoblastic leukemia(192;6.56e-05)					GAACAAGACCGTAGTGCACTT	0.363		NA											68	31					3.62e-42	8.87e-42	1	0
SYT15	83849	broad.mit.edu	37	10	46968665	46968665	+	Frame_Shift_Del	DEL	G	G	-	rs116765329	by1000genomes	TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr10:46968665delG	uc001jea.2	-	3	424	c.271delC	c.(271-273)CTGfs	p.L91fs	SYT15_uc001jdz.2_Frame_Shift_Del_p.L91fs|SYT15_uc001jeb.2_5'UTR|SYT15_uc010qfp.1_5'Flank	NM_031912	NP_114118	Q9BQS2	SYT15_HUMAN	synaptotagmin XV isoform a	91	Cytoplasmic (Potential).					integral to membrane|plasma membrane					0						CCACTGTGCAGGGGCACCCAA	0.632		NA											8	50	---	---	---	---	NA	NA	NA	NA
XPOT	11260	broad.mit.edu	37	12	64818925	64818925	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr12:64818925delT	uc001ssb.2	+	13	1841	c.1415delT	c.(1414-1416)GTTfs	p.V472fs		NM_007235	NP_009166	O43592	XPOT_HUMAN	tRNA exportin	472	Necessary for tRNA-binding, cytoplasmic localization and nuclear export.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			ovary(2)	2				GBM - Glioblastoma multiforme(28;0.0404)		TCAGGTGATGTTTCAAAAGCT	0.383		NA											55	92	---	---	---	---	NA	NA	NA	NA
TP53	7157	broad.mit.edu	37	17	7578384	7578401	+	In_Frame_Del	DEL	GCAGCGCTCATGGTGGGG	GCAGCGCTCATGGTGGGG	-	rs138525931	by1000genomes	TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr17:7578384_7578401delGCAGCGCTCATGGTGGGG	uc002gim.2	-	5	723_740	c.529_546delCCCCACCATGAGCGCTGC	c.(529-546)CCCCACCATGAGCGCTGCdel	p.PHHERC177del	TP53_uc002gig.1_In_Frame_Del_p.PHHERC177del|TP53_uc002gih.2_In_Frame_Del_p.PHHERC177del|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_In_Frame_Del_p.PHHERC45del|TP53_uc010cng.1_In_Frame_Del_p.PHHERC45del|TP53_uc002gii.1_In_Frame_Del_p.PHHERC45del|TP53_uc010cnh.1_In_Frame_Del_p.PHHERC177del|TP53_uc010cni.1_In_Frame_Del_p.PHHERC177del|TP53_uc002gij.2_In_Frame_Del_p.PHHERC177del|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_In_Frame_Del_p.PHHERC84del|TP53_uc002gio.2_In_Frame_Del_p.PHHERC45del|TP53_uc010vug.1_In_Frame_Del_p.PHHERC138del	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	177_182	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H179R(98)|p.H179Y(74)|p.H179L(31)|p.R181H(20)|p.H179Q(17)|p.P177L(17)|p.P177R(15)|p.R181P(14)|p.H179N(13)|p.E180*(13)|p.R181C(13)|p.H178fs*69(10)|p.H179D(10)|p.P177P(10)|p.H178Y(8)|p.P177_C182delPHHERC(8)|p.P177S(8)|p.C182S(8)|p.0?(7)|p.H178P(6)|p.E180K(5)|p.H178fs*3(5)|p.H178Q(5)|p.C182*(5)|p.H178D(4)|p.C176_R181delCPHHER(3)|p.H179P(3)|p.H178N(3)|p.P177H(3)|p.E180D(3)|p.R175_E180delRCPHHE(3)|p.R181L(3)|p.R174fs*24(3)|p.H179fs*68(2)|p.H179H(2)|p.R174fs*1(2)|p.H178H(2)|p.P177fs*3(2)|p.C182Y(2)|p.C182C(2)|p.C182R(2)|p.R181R(2)|p.V173fs*59(2)|p.V173fs*69(1)|p.R175_H178>X(1)|p.E180G(1)|p.E180fs*67(1)|p.E180Q(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.H178fs*6(1)|p.H178L(1)|p.R174fs*3(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.H179del(1)|p.P177fs*4(1)|p.H168fs*69(1)|p.E180>DGRCPHQ(1)|p.H178del(1)|p.P177I(1)|p.E180_S183del(1)|p.P177T(1)|p.K164_P219del(1)|p.R49P(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.C176_P177delCP(1)|p.P177fs*69(1)|p.R42fs*24(1)|p.R88P(1)|p.C182fs*4(1)|p.R174_E180>K(1)|p.P177_E180delPHHE(1)|p.C182fs*65(1)|p.C176fs*65(1)|p.R181G(1)|p.C176fs*68(1)|p.R174_H178>S(1)|p.R181>XXXXXXX(1)|p.H178_H179>QY(1)|p.?(1)|p.R81fs*24(1)|p.P177_H179delPHH(1)|p.E180fs*6(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTC	0.638		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			19	29	---	---	---	---	NA	NA	NA	NA
ANKRD57	65124	broad.mit.edu	37	2	110373348	110373349	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr2:110373348_110373349delCT	uc002tfb.2	+	1	1438_1439	c.1282_1283delCT	c.(1282-1284)CTCfs	p.L428fs	SEPT10_uc010ywu.1_5'Flank|SEPT10_uc002tew.2_5'Flank|SEPT10_uc002tex.2_5'Flank|SEPT10_uc002tey.2_5'Flank|SEPT10_uc010ywv.1_5'Flank	NM_023016	NP_075392	Q53LP3	ANR57_HUMAN	ankyrin repeat domain 57	428											0						CACCTACAAACTCTCACACGCC	0.644		NA											16	43	---	---	---	---	NA	NA	NA	NA
KLHDC8B	200942	broad.mit.edu	37	3	49213226	49213226	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr3:49213226delG	uc003cwh.2	+	6	1242	c.1057delG	c.(1057-1059)GGGfs	p.G353fs	KLHDC8B_uc003cwi.1_3'UTR	NM_173546	NP_775817	Q8IXV7	KLD8B_HUMAN	kelch domain containing 8B	353	Kelch 8.					cytoplasm					0				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TCTGCGTGATGGGGTCTGAAG	0.602		NA											27	27	---	---	---	---	NA	NA	NA	NA
COPS4	51138	broad.mit.edu	37	4	83970432	83970433	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr4:83970432_83970433insA	uc003hoa.2	+	3	407_408	c.268_269insA	c.(268-270)GAAfs	p.E90fs	COPS4_uc003hob.2_Frame_Shift_Ins_p.E90fs|COPS4_uc010ijw.2_Frame_Shift_Ins_p.E90fs|COPS4_uc010ijx.2_Frame_Shift_Ins_p.E90fs	NM_016129	NP_057213	Q9BT78	CSN4_HUMAN	COP9 signalosome subunit 4	90					cullin deneddylation	cytoplasm|signalosome	protein binding			kidney(1)	1		Hepatocellular(203;0.114)				CTTCACCTTGGAAAAGATCCAG	0.406		NA											15	35	---	---	---	---	NA	NA	NA	NA
TRERF1	55809	broad.mit.edu	37	6	42196333	42196333	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr6:42196333delT	uc003osd.2	-	18	3916	c.3353delA	c.(3352-3354)AAGfs	p.K1118fs	TRERF1_uc011duq.1_Frame_Shift_Del_p.K1035fs|TRERF1_uc003osb.2_Frame_Shift_Del_p.K886fs|TRERF1_uc003osc.2_Frame_Shift_Del_p.K874fs|TRERF1_uc003ose.2_Frame_Shift_Del_p.K1138fs	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	1118	Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			ovary(3)|pancreas(1)|skin(1)	5	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTTCTGAGCCTTTTGCCTCTG	0.542		NA											7	642	---	---	---	---	NA	NA	NA	NA
RUNDC3B	154661	broad.mit.edu	37	7	87459335	87459343	+	In_Frame_Del	DEL	CTCCATCCT	CTCCATCCT	-			TCGA-CV-6941-01A-11D-1912-08	TCGA-CV-6941-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	87071681-0058-4081-91f3-f689a150fc94	68f50c4b-eb4e-4e10-9524-d81b15fd4960	g.chr7:87459335_87459343delCTCCATCCT	uc003ujb.2	+	12	1823_1831	c.1412_1420delCTCCATCCT	c.(1411-1422)ACTCCATCCTGA>AGA	p.471_474TPS*>R	RUNDC3B_uc011khe.1_In_Frame_Del_p.454_457TPS*>R|RUNDC3B_uc003ujc.2_In_Frame_Del_p.405_408TPS*>R|RUNDC3B_uc003ujd.2_In_Frame_Del_p.327_330TPS*>R	NM_138290	NP_612147	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B isoform a	471_474										skin(1)	1	Esophageal squamous(14;0.00164)					CCAGGCCTAACTCCATCCTGAAAATTTTT	0.354		NA											11	64	---	---	---	---	NA	NA	NA	NA