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_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
FOXG1	2290	broad.mit.edu	37	14	29237034	29237034	+	Silent	SNP	G	G	A			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr14:29237034G>A	ENST00000382535.3	+	2	918	c.549G>A	c.(547-549)ccG>ccA	p.P183P	FOXG1_ENST00000313071.4_Silent_p.P183P			P55316	FOXG1_HUMAN	forkhead box G1	183				P -> PP (in Ref. 1; CAA52241).	axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		AGAAGCCGCCGTTCAGCTACA	0.637000													8	16					0	0	1	0	0
LYPD4	147719	broad.mit.edu	37	19	42341280	42341280	+	Silent	SNP	T	T	G			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr19:42341280T>G	ENST00000330743.3	-	5	1889	c.678A>C	c.(676-678)gcA>gcC	p.A226A	LYPD4_ENST00000601246.1_Silent_p.A191A|LYPD4_ENST00000343055.4_Silent_p.A191A	NM_173506.4	NP_775777.3	Q6UWN0	LYPD4_HUMAN	LY6/PLAUR domain containing 4	226						anchored to membrane|plasma membrane				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						GCCTGGAGGATGCTGCACCAA	0.493000													3	60					0	0	1	0	0
TRPC7	57113	broad.mit.edu	37	5	135561020	135561020	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr5:135561020A>G	ENST00000513104.1	-	10	2567	c.2285T>C	c.(2284-2286)aTg>aCg	p.M762T	TRPC7_ENST00000426057.2_Missense_Mutation_p.M646T|TRPC7_ENST00000355180.3_Missense_Mutation_p.M701T	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	762					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGAATTCCTCATGCCAGCCTG	0.453000													6	12					0	0	1	0	0
DIS3	22894	broad.mit.edu	37	13	73346337	73346337	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr13:73346337T>C	ENST00000377767.4	-	10	1563	c.1463A>G	c.(1462-1464)gAt>gGt	p.D488G	DIS3_ENST00000545453.1_Missense_Mutation_p.D326G|DIS3_ENST00000377780.4_Missense_Mutation_p.D458G	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)	488					CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		ATGTAGAGCATCGTCTATATC	0.363000										Multiple Myeloma(4;0.011)			15	23					0	0	1	0	0
TTYH2	94015	broad.mit.edu	37	17	72249349	72249349	+	Silent	SNP	G	G	A			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr17:72249349G>A	ENST00000441391.2	+	6	1638	c.426G>A	c.(424-426)caG>caA	p.Q142Q	TTYH2_ENST00000529107.1_Silent_p.Q442Q|TTYH2_ENST00000269346.4_Silent_p.Q463Q	NM_052869.1	NP_443101.1	Q9BSA4	TTYH2_HUMAN	tweety family member 2	463						chloride channel complex|plasma membrane	chloride channel activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						TGGGAAGTCAGACCAGCCTGC	0.647000													15	54					0	0	1	0	0
NOL8	55035	broad.mit.edu	37	9	95077012	95077012	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr9:95077012T>C	ENST00000545558.1	-	7	2387	c.1895A>G	c.(1894-1896)cAt>cGt	p.H632R	NOL8_ENST00000535387.1_Missense_Mutation_p.H632R|NOL8_ENST00000542053.1_Missense_Mutation_p.H564R|NOL8_ENST00000442668.2_Missense_Mutation_p.H632R|NOL8_ENST00000358855.4_Missense_Mutation_p.H564R			Q76FK4	NOL8_HUMAN	nucleolar protein 8	632					DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						CTTCTTTGCATGTTGGCATGG	0.453000													5	10					0	0	1	0	0
SETD2	29072	broad.mit.edu	37	3	47103767	47103767	+	Nonsense_Mutation	SNP	G	G	C			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr3:47103767G>C	ENST00000409792.3	-	14	6221	c.6179C>G	c.(6178-6180)tCa>tGa	p.S2060*	SETD2_ENST00000492397.1_5'UTR	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2060					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TCTCTCTCTTGACCTATTAGG	0.463000			"""N, F, S, Mis"""		clear cell renal carcinoma								6	128					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132547141	132547141	+	Silent	SNP	G	G	A			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr12:132547141G>A	ENST00000333577.4	+	48	8446	c.8337G>A	c.(8335-8337)caG>caA	p.Q2779Q	EP400_ENST00000332482.4_Silent_p.Q2706Q|EP400_ENST00000389562.2_Silent_p.Q2742Q|EP400_ENST00000389561.2_Silent_p.Q2743Q|EP400_ENST00000330386.6_Silent_p.Q2662Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2779	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2742Q(2)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacagcagcagcagc	0.597000													3	27					0	0	1	0	0
SERPING1	710	broad.mit.edu	37	11	57367766	57367766	+	Missense_Mutation	SNP	G	G	A	rs139035354	by1000genomes	TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr11:57367766G>A	ENST00000403558.1	+	2	934	c.568G>A	c.(568-570)Gcc>Acc	p.A190T	SERPING1_ENST00000378324.2_Missense_Mutation_p.A104T|SERPING1_ENST00000278407.4_Missense_Mutation_p.A156T|SERPING1_ENST00000340687.6_Missense_Mutation_p.A156T|SERPING1_ENST00000378323.4_Missense_Mutation_p.A161T	NM_001032295.1	NP_001027466.1	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	156					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	p.A156T(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						GCTCTACCACGCCTTCTCAGC	0.542000													49	62					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56483529	56483529	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr6:56483529G>A	ENST00000370765.6	-	23	5410	c.5303C>T	c.(5302-5304)aCt>aTt	p.T1768I	DST_ENST00000370769.4_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000446842.2_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1162					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ATCATTTTCAGTGATGACTTT	0.358000													17	49					0	0	1	0	0
ANKAR	150709	broad.mit.edu	37	2	190585366	190585366	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr2:190585366A>C	ENST00000520309.1	+	12	2576	c.2488A>C	c.(2488-2490)Aat>Cat	p.N830H	ANKAR_ENST00000313581.4_Missense_Mutation_p.N830H|ANKAR_ENST00000281412.6_Missense_Mutation_p.N594H|ANKAR_ENST00000438402.2_Missense_Mutation_p.N830H|ANKAR_ENST00000431575.2_Missense_Mutation_p.N759H	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	830						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			AAGCCTGATAAATCTATTGAA	0.284000													16	44					0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74003681	74003681	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr17:74003681C>T	ENST00000301607.3	-	22	5858	c.5605G>A	c.(5605-5607)Gtg>Atg	p.V1869M	EVPL_ENST00000586740.1_Missense_Mutation_p.V1891M	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1869	Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						AGCAGGTCCACGATGCCCCCT	0.617000													4	45					0	0	1	0	0
EFTUD2	9343	broad.mit.edu	37	17	42931994	42931994	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr17:42931994C>T	ENST00000426333.2	-	22	2486	c.2189G>A	c.(2188-2190)cGt>cAt	p.R730H	EFTUD2_ENST00000591382.1_Missense_Mutation_p.R730H|EFTUD2_ENST00000402521.3_Missense_Mutation_p.R695H|EFTUD2_ENST00000592576.1_Missense_Mutation_p.R720H	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	730						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				CCAGATGGAACGGGCAGCCAG	0.567000													17	29					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149482723	149482723	+	RNA	SNP	C	C	G			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr7:149482723C>G	ENST00000378016.2	+	0	3139							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGCCAGTGGCCTATTCACAGT	0.627000													4	7					0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78790136	78790136	+	Missense_Mutation	SNP	T	T	C	rs62556589		TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr9:78790136T>C	ENST00000376767.3	+	14	2503	c.1991T>C	c.(1990-1992)aTg>aCg	p.M664T	PCSK5_ENST00000376752.4_Intron|PCSK5_ENST00000545128.1_Intron			Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	0	CRM (Cys-rich motif).				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						tggaatggaatgaaatggaat	0.423000													4	13					0	0	1	0	0
OR13D1	286365	broad.mit.edu	37	9	107456818	107456818	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr9:107456818C>G	ENST00000318763.5	+	1	159	c.116C>G	c.(115-117)tCt>tGt	p.S39C		NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D, member 1	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						AGAAATTACTCTGCCATGACT	0.423000													7	24					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								28	34					0	0	1	0	0
HCCS	3052	broad.mit.edu	37	X	11135492	11135492	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chrX:11135492T>C	ENST00000321143.4	+	4	560	c.358T>C	c.(358-360)Tac>Cac	p.Y120H	HCCS_ENST00000380762.4_Missense_Mutation_p.Y120H|HCCS_ENST00000380763.3_Missense_Mutation_p.Y120H	NM_001122608.2|NM_001171991.2|NM_005333.4	NP_001116080.1|NP_001165462.1|NP_005324.3	P53701	CCHL_HUMAN	holocytochrome c synthase	120					organ morphogenesis|oxidation-reduction process	mitochondrial inner membrane	holocytochrome-c synthase activity|metal ion binding			kidney(1)|large_intestine(3)|lung(3)	7						AAAGTGGGTTTACCCTTCTGA	0.383000													37	21					0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27799838	27799838	+	Silent	SNP	A	A	T			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr2:27799838A>T	ENST00000408964.2	+	1	450	c.399A>T	c.(397-399)gcA>gcT	p.A133A		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	133										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CAAAATATGCAGAGATGATCC	0.383000													4	74					0	0	1	0	0
IQGAP1	8826	broad.mit.edu	37	15	91034589	91034589	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr15:91034589C>T	ENST00000268182.5	+	34	4397	c.4273C>T	c.(4273-4275)Cag>Tag	p.Q1425*	IQGAP1_ENST00000560738.1_Nonsense_Mutation_p.Q853*	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1425	C2.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			GAGAGCCATGCAGAGACGTGC	0.398000													4	23					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64676802	64676802	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr14:64676802A>G	ENST00000357395.3	+	104	18982	c.7838A>G	c.(7837-7839)aAc>aGc	p.N2613S	SYNE2_ENST00000344113.4_Missense_Mutation_p.N6228S|SYNE2_ENST00000554805.1_Missense_Mutation_p.N11S|SYNE2_ENST00000554584.1_Missense_Mutation_p.N6187S|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.N2613S|SYNE2_ENST00000358025.3_Missense_Mutation_p.N6228S|SYNE2_ENST00000555022.1_Missense_Mutation_p.N106S|SYNE2_ENST00000555002.1_Missense_Mutation_p.N2862S			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6228					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CGCTGGGACAACCTTCAGAGG	0.622000													7	15					0	0	1	0	0
TBC1D2	55357	broad.mit.edu	37	9	100991314	100991314	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr9:100991314G>A	ENST00000375066.5	-	5	989	c.898C>T	c.(898-900)Cgg>Tgg	p.R300W	TBC1D2_ENST00000493589.2_5'UTR|TBC1D2_ENST00000375064.1_Missense_Mutation_p.R300W|TBC1D2_ENST00000342112.5_Missense_Mutation_p.R82W	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	300	Interaction with RAC1.					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		GTTCGGTTCCGTGTGATTCCT	0.522000													11	34					0	0	1	0	0
PTGS1	5742	broad.mit.edu	37	9	125154668	125154668	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr9:125154668T>G	ENST00000362012.2	+	11	1650	c.1645T>G	c.(1645-1647)Ttt>Gtt	p.F549V	PTGS1_ENST00000373698.5_Missense_Mutation_p.F440V|PTGS1_ENST00000223423.4_Missense_Mutation_p.F512V|PTGS1_ENST00000540753.1_Missense_Mutation_p.F487V	NM_000962.2|NM_001271164.1|NM_080591.1	NP_000953.2|NP_001258093.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	549					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			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					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)	GCCGAGCACATTTGGCGGCGA	0.537000													20	53					0	0	1	0	0
RP11-248G5.8	0	broad.mit.edu	37	13	52864028	52864028	+	RNA	SNP	C	C	T	rs138483057	by1000genomes	TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr13:52864028C>T	ENST00000451298.1	-	0	141				RP11-64P12.8_ENST00000606031.1_RNA																							TAGAATGATACTCCAAAGGAA	0.313000													3	22					0	0	1	0	0
NSUN5P1	0	broad.mit.edu	37	7	75045031	75045031	+	RNA	SNP	C	C	T			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr7:75045031C>T	ENST00000393633.2	+	0	3842																				large_intestine(1)|lung(1)	2						CTGCTGGATCCTTCCTGCAGT	0.587000													5	19					0	0	1	0	0
ALG6	29929	broad.mit.edu	37	1	63876858	63876858	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr1:63876858T>C	ENST00000371108.4	+	8	841	c.536T>C	c.(535-537)cTt>cCt	p.L179P	ALG6_ENST00000263440.4_Missense_Mutation_p.L181P	NM_013339.3	NP_037471.2	Q9Y672	ALG6_HUMAN	ALG6, alpha-1,3-glucosyltransferase	179					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						TGGGGTGTTCTTGGAATATCT	0.363000													40	109					0	0	1	0	0
SEC1P	0	broad.mit.edu	37	19	49183610	49183610	+	RNA	SNP	G	G	A			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr19:49183610G>A	ENST00000430145.2	+	0	697					NR_004401.2																						TGCCGGTGCTGCACAGCGCCA	0.667000													15	18					0	0	1	0	0
MEGT1	0	broad.mit.edu	37	6	31685399	31685399	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr6:31685399G>A	ENST00000503322.1	+	6	970	c.967G>A	c.(967-969)Gcc>Acc	p.A323T	LY6G6F_ENST00000556581.1_Missense_Mutation_p.A323T|LY6G6D_ENST00000375825.3_Missense_Mutation_p.A74T																							CTGCGTCGCAGCCCATCATTG	0.577000													74	141					0	0	1	0	0
DLGAP4	22839	broad.mit.edu	37	20	35060961	35060961	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr20:35060961G>T	ENST00000373913.3	+	3	1321	c.841G>T	c.(841-843)Ggg>Tgg	p.G281W	DLGAP4_ENST00000373907.2_Missense_Mutation_p.G281W|DLGAP4_ENST00000401952.2_Missense_Mutation_p.G281W|DLGAP4_ENST00000339266.5_Missense_Mutation_p.G281W			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	281					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CCCCAGCCTTGGGGTGGGCAC	0.632000													11	7					0.00010058	0.000102514	1	1	0
AKAP13	11214	broad.mit.edu	37	15	86287025	86287025	+	Silent	SNP	G	G	A			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr15:86287025G>A	ENST00000394518.2	+	36	8456	c.8361G>A	c.(8359-8361)aaG>aaA	p.K2787K	AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000361243.2_Silent_p.K2791K|AKAP13_ENST00000394510.2_Silent_p.K1032K	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2787	Interaction with ESR1.|Poly-Lys.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						AGAAAAAAAAGAAGAACAAAA	0.532000													5	27					0	0	1	0	0
CD36	948	broad.mit.edu	37	7	80286000	80286000	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr7:80286000G>A	ENST00000435819.1	+	7	949	c.265G>A	c.(265-267)Ggt>Agt	p.G89S	CD36_ENST00000534394.1_Missense_Mutation_p.G13S|CD36_ENST00000447544.2_Missense_Mutation_p.G89S|CD36_ENST00000394788.3_Missense_Mutation_p.G89S|CD36_ENST00000538969.1_Missense_Mutation_p.G89S|CD36_ENST00000433696.2_Missense_Mutation_p.G89S|CD36_ENST00000544133.1_Missense_Mutation_p.G89S|CD36_ENST00000309881.7_Missense_Mutation_p.G89S|CD36_ENST00000432207.1_Missense_Mutation_p.G89S			P16671	CD36_HUMAN	CD36 molecule (thrombospondin receptor)	89					cell adhesion|cGMP-mediated signaling|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation	integral to plasma membrane|membrane fraction|platelet alpha granule membrane	lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						TAAGCAAAGAGGTCCTTATAC	0.398000													3	70					0	0	1	0	0
MS4A14	84689	broad.mit.edu	37	11	60183353	60183353	+	Silent	SNP	T	T	C			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr11:60183353T>C	ENST00000300187.6	+	5	1189	c.912T>C	c.(910-912)ttT>ttC	p.F304F	MS4A14_ENST00000531783.1_Silent_p.F337F|MS4A14_ENST00000531787.1_Silent_p.F192F|MS4A14_ENST00000395005.2_Silent_p.F287F|MS4A14_ENST00000395001.1_3'UTR	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	304						integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						TCCAAGTTTTTCCATCCCATT	0.423000													23	26					0	0	1	0	0
DCLK1	9201	broad.mit.edu	37	13	36686247	36686247	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr13:36686247C>T	ENST00000255448.4	-	3	693	c.482G>A	c.(481-483)cGg>cAg	p.R161Q	DCLK1_ENST00000379892.4_Missense_Mutation_p.R161Q|DCLK1_ENST00000360631.3_Missense_Mutation_p.R161Q	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	161					cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		AGACACTGCCCGAGAAGCCGA	0.522000													13	36					0	0	1	0	0
TMTC1	83857	broad.mit.edu	37	12	29659825	29659825	+	Missense_Mutation	SNP	C	C	T	rs35279918		TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr12:29659825C>T	ENST00000256062.5	-	18	2752	c.2279G>A	c.(2278-2280)cGc>cAc	p.R760H	TMTC1_ENST00000552618.1_Missense_Mutation_p.R892H|TMTC1_ENST00000539277.1_Missense_Mutation_p.R868H|TMTC1_ENST00000551659.1_Missense_Mutation_p.R930H|TMTC1_ENST00000319685.8_5'UTR	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	868						integral to membrane	binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					TTTTTCTAGGCGATCCAATTT	0.453000													25	59					0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77807397	77807397	+	Splice_Site	SNP	G	G	C			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr13:77807397G>C	ENST00000407578.2	-	18	2897	c.2629_splice	c.e18-1	p.G877_splice	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000544440.2_Splice_Site_p.G839_splice|MYCBP2_ENST00000357337.6_Splice_Site_p.G839_splice	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	839					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		ATACAAGGGGGCCTGAGGAGA	0.363000													3	31					0	0	1	0	0
SLC9C1	285335	broad.mit.edu	37	3	111887770	111887770	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr3:111887770C>T	ENST00000305815.5	-	25	3443	c.3191G>A	c.(3190-3192)cGa>cAa	p.R1064Q	SLC9C1_ENST00000487372.1_Missense_Mutation_p.R1016Q	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	1064					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity	p.R1064Q(1)									ATAAGTTTTTCGTAACAGACA	0.323000													19	48					0	0	1	0	0
ISM2	145501	broad.mit.edu	37	14	77942239	77942239	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr14:77942239G>A	ENST00000393684.3	-	8	1542	c.1151C>T	c.(1150-1152)gCg>gTg	p.A384V	ISM2_ENST00000429906.1_Missense_Mutation_p.A391V|ISM2_ENST00000412904.1_Missense_Mutation_p.A391V|ISM2_ENST00000493585.1_3'UTR|ISM2_ENST00000342219.4_Missense_Mutation_p.A472V			Q6H9L7	ISM2_HUMAN	isthmin 2	472						extracellular region				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						GCAGAAGCGCGCCGTGGGCTG	0.677000													7	22					0	0	1	0	0
MUSK	4593	broad.mit.edu	37	9	113562782	113562782	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr9:113562782G>C	ENST00000416899.2	+	13	2226	c.2100G>C	c.(2098-2100)caG>caC	p.Q700H	MUSK_ENST00000374448.4_Missense_Mutation_p.Q708H|MUSK_ENST00000189978.5_Missense_Mutation_p.Q708H			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	708	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						TTGCCAGGCAGGTGGCAGCTG	0.567000													28	94					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170038748	170038748	+	Silent	SNP	C	C	T			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr2:170038748C>T	ENST00000263816.3	-	51	10212	c.9927G>A	c.(9925-9927)caG>caA	p.Q3309Q	LRP2_ENST00000461418.1_5'UTR	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3309					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CCACACAGTGCTGGGCCAGCA	0.532000													31	69					0	0	1	0	0
KIF13B	23303	broad.mit.edu	37	8	29039519	29039519	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr8:29039519G>A	ENST00000524189.1	-	7	540	c.502C>T	c.(502-504)Cgt>Tgt	p.R168C	KIF13B_ENST00000521515.1_Missense_Mutation_p.R168C	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	168	Kinesin-motor.				microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		AACGTCTGACGGCTTCTGTTC	0.373000													3	39					0	0	1	0	0
EEF1A1	1915	broad.mit.edu	37	6	74229668	74229668	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr6:74229668T>C	ENST00000316292.9	-	1	1073	c.82A>G	c.(82-84)Atc>Gtc	p.I28V	EEF1A1_ENST00000309268.6_Missense_Mutation_p.I28V|EEF1A1_ENST00000331523.2_Missense_Mutation_p.I28V	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	28						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						CATTTATAGATCAGATGGCCA	0.413000													13	36					0	0	1	0	0
CCDC54	84692	broad.mit.edu	37	3	107097101	107097101	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr3:107097101C>T	ENST00000261058.1	+	1	914	c.667C>T	c.(667-669)Cgt>Tgt	p.R223C		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	223										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						TCTGAAGAAACGTAACCATCA	0.378000													27	36					0	0	1	0	0
CHORDC1	26973	broad.mit.edu	37	11	89947220	89947220	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr11:89947220C>T	ENST00000320585.6	-	4	704	c.295G>A	c.(295-297)Gcc>Acc	p.A99T	CHORDC1_ENST00000530765.1_Missense_Mutation_p.A99T|CHORDC1_ENST00000457199.2_Missense_Mutation_p.A80T	NM_012124.2	NP_036256.2	Q9UHD1	CHRD1_HUMAN	cysteine and histidine-rich domain (CHORD) containing 1	99	Interaction with HSP90AA1 and HSP90AB1 (By similarity).				chaperone-mediated protein folding|regulation of response to stress|response to stress		Hsp90 protein binding|identical protein binding			endometrium(2)|large_intestine(2)|liver(1)|lung(6)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.00915)				GGCTTAGGGGCTTGAATGATG	0.393000													5	104					0	0	1	0	0
C3	718	broad.mit.edu	37	19	6712560	6712560	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr19:6712560T>C	ENST00000245907.6	-	10	1170	c.1078A>G	c.(1078-1080)Aca>Gca	p.T360A		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	360					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TACTTGGGTGTCTTGGTGAAG	0.622000													13	171					0	0	1	0	0
KLHL28	54813	broad.mit.edu	37	14	45415078	45415078	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr14:45415078delA	ENST00000396128.4	-	2	173	c.54delT	c.(52-54)tcfs	p.S18fs	KLHL28_ENST00000355081.2_Frame_Shift_Del_p.S32fs	NM_017658.3	NP_060128.2	Q9NXS3	KLH28_HUMAN	kelch-like family member 28	18										breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GAAGTTGTTCAGAATGCAAGT	0.403													21	60	---	---	---	---					
USP32	84669	broad.mit.edu	37	17	58378974	58378975	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr17:58378974_58378975delTC	ENST00000300896.4	-	3	471_472	c.277_278delGA	c.(277-279)afs	p.E94fs	USP32_ENST00000393003.3_Frame_Shift_Del_p.E94fs|USP32_ENST00000586881.1_5'UTR	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	94	EF-hand 1.				protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			TGCTTTCTCTTCATCTTTGCCT	0.332													8	22	---	---	---	---					
RP4-738P15.1	0	broad.mit.edu	37	20	25128040	25128040	+	RNA	DEL	C	C	-			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr20:25128040delC	ENST00000454676.1	-	0	834					NR_027091.1|NR_027092.1|NR_027093.1																						tgcacccagtcctacccatcg	0.547													2	4	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11085863	11085864	+	RNA	INS	-	-	C			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr21:11085863_11085864insC	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		catcaccaccaccaccatcacc	0.579													4	4	---	---	---	---					
NUDT11	0	broad.mit.edu	37	X	51239296	51239309	+	Translation_Start_Site	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-	rs78182391		TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11							cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)			2	4	---	---	---	---					
