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
FREM1	158326	broad.mit.edu	37	9	14746437	14746437	+	Silent	SNP	C	C	T			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr9:14746437C>T	ENST00000380881.4	-	36	6986	c.6171G>A	c.(6169-6171)ggG>ggA	p.G2057G	FREM1_ENST00000422223.2_Silent_p.G2056G|FREM1_ENST00000380894.1_Silent_p.G592G|FREM1_ENST00000380880.3_Silent_p.G2056G			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	2056					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GCTGGTGCCACCCGGCTGGAC	0.493000													15	42					0	0	1	0	0
DCK	1633	broad.mit.edu	37	4	71889297	71889297	+	Missense_Mutation	SNP	G	G	T			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr4:71889297G>T	ENST00000286648.5	+	4	820	c.423G>T	c.(421-423)ttG>ttT	p.L141F	DCK_ENST00000504952.1_Missense_Mutation_p.L141F|DCK_ENST00000504730.1_Missense_Mutation_p.L141F	NM_000788.2	NP_000779.1	P27707	DCK_HUMAN	deoxycytidine kinase	141					purine base metabolic process|purine-containing compound salvage|pyrimidine base metabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process	cytosol|nucleus	ATP binding|deoxycytidine kinase activity|drug binding|phosphotransferase activity, alcohol group as acceptor|protein homodimerization activity			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)	9			Lung(101;0.235)		Cladribine(DB00242)|Clofarabine(DB00631)|Decitabine(DB01262)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Pemetrexed(DB00642)|Zalcitabine(DB00943)	CATCTAATTTGTATGAATCTG	0.328000													22	34					6.21321e-17	6.77805e-17	1	1	0
USP9X	8239	broad.mit.edu	37	X	41057976	41057976	+	Missense_Mutation	SNP	A	A	G			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chrX:41057976A>G	ENST00000324545.7	+	30	5209	c.4576A>G	c.(4576-4578)Atg>Gtg	p.M1526V	USP9X_ENST00000378308.2_Missense_Mutation_p.M1526V	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1526					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TTTGACTGAAATGTATTACAT	0.318000													8	13					0	0	1	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106647281	106647281	+	Missense_Mutation	SNP	C	C	A			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr11:106647281C>A	ENST00000526355.1	-	6	2188	c.1720G>T	c.(1720-1722)Gtt>Ttt	p.V574F	GUCY1A2_ENST00000282249.2_Missense_Mutation_p.V574F|GUCY1A2_ENST00000347596.2_Missense_Mutation_p.V595F	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	574	Guanylate cyclase.				intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		CCTGCTGCAACACAGTAGGCA	0.443000													4	31					1	1	1	1	0
UBBP4	0	broad.mit.edu	37	17	21731144	21731144	+	Missense_Mutation	SNP	T	T	G	rs149119138	by1000genomes	TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr17:21731144T>G	ENST00000584755.1	+	2	843	c.446T>G	c.(445-447)cTg>cGg	p.L149R	UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R|UBBP4_ENST00000584398.1_3'UTR														p.L149R(18)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCTGAGAGGTGGT	0.542000													5	71					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10348674	10348674	+	Silent	SNP	G	G	C			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr17:10348674G>C	ENST00000255381.2	-	36	5285	c.5175C>G	c.(5173-5175)acC>acG	p.T1725T	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1725					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TGATCAGGCTGGTGTTCTGTT	0.418000													23	84					0	0	1	0	0
GNL3L	54552	broad.mit.edu	37	X	54570718	54570718	+	Missense_Mutation	SNP	G	G	A			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chrX:54570718G>A	ENST00000336470.4	+	8	728	c.589G>A	c.(589-591)Gtg>Atg	p.V197M	GNL3L_ENST00000489691.1_3'UTR|GNL3L_ENST00000360845.2_Missense_Mutation_p.V197M	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)-like	197					ribosome biogenesis	nucleolus	GTP binding			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						GTTGCCAACCGTGGCTTTCAA	0.547000													12	10					0	0	1	0	0
SVIL	6840	broad.mit.edu	37	10	29839796	29839796	+	Missense_Mutation	SNP	G	G	A			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr10:29839796G>A	ENST00000375398.2	-	8	1006	c.557C>T	c.(556-558)gCc>gTc	p.A186V	SVIL_ENST00000355867.4_Missense_Mutation_p.A186V|SVIL_ENST00000375400.3_Missense_Mutation_p.A186V			O95425	SVIL_HUMAN	supervillin	186					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CACATGGAGGGCATAGTCCTT	0.577000													4	87					0	0	1	0	0
KIAA0232	9778	broad.mit.edu	37	4	6862653	6862653	+	Missense_Mutation	SNP	T	T	C			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr4:6862653T>C	ENST00000307659.5	+	7	999	c.544T>C	c.(544-546)Tct>Cct	p.S182P	KIAA0232_ENST00000425103.1_Missense_Mutation_p.S182P	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	182							ATP binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						TCCACCACTTTCTGAGAAACC	0.398000													44	58					0	0	1	0	0
TSSC2	0	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr11:3427845C>T	ENST00000529482.1	+	0	962																											CTTCAAGTGGCAGGAGCAGAA	0.587000													5	17					0	0	1	0	0
KIR2DL1	3802	broad.mit.edu	37	19	55284915	55284915	+	Silent	SNP	C	C	T	rs144426670	byFrequency	TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr19:55284915C>T	ENST00000336077.6	+	3	241	c.201C>T	c.(199-201)aaC>aaT	p.N67N	KIR2DL4_ENST00000396284.2_Intron|KIR2DL3_ENST00000434419.2_Intron|KIR3DL1_ENST00000541392.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL1_ENST00000291633.7_Silent_p.N67N|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000402254.2_Intron	NM_014218.2	NP_055033.2	P43626	KI2L1_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1	67	Ig-like C2-type 1.				immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		GGATGTTTAACGACACTTTGC	0.517000													5	130					0	0	1	0	0
SNAPC3	6619	broad.mit.edu	37	9	15459757	15459757	+	Missense_Mutation	SNP	T	T	C			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr9:15459757T>C	ENST00000380821.3	+	9	1305	c.1129T>C	c.(1129-1131)Tgc>Cgc	p.C377R		NM_001039697.1	NP_001034786.1	Q92966	SNPC3_HUMAN	small nuclear RNA activating complex, polypeptide 3, 50kDa	377					regulation of transcription, DNA-dependent|snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|protein binding			breast(1)|endometrium(3)|large_intestine(6)|lung(2)	12				GBM - Glioblastoma multiforme(50;2.15e-06)		AGAGGACCCATGCTTCTTTTG	0.393000													19	50					0	0	1	0	0
PTPRM	5797	broad.mit.edu	37	18	7888149	7888149	+	Missense_Mutation	SNP	G	G	C	rs139956933		TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr18:7888149G>C	ENST00000332175.8	+	3	1279	c.242G>C	c.(241-243)aGa>aCa	p.R81T	PTPRM_ENST00000580170.1_Missense_Mutation_p.R81T|PTPRM_ENST00000400060.4_Missense_Mutation_p.R81T|PTPRM_ENST00000400053.4_Missense_Mutation_p.R19T	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	81	MAM.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				GAGGGGCAGAGAGCCCACCTG	0.463000													21	92					0	0	1	0	0
AGT	183	broad.mit.edu	37	1	230845898	230845898	+	Silent	SNP	C	C	A			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr1:230845898C>A	ENST00000366667.4	-	2	913	c.699G>T	c.(697-699)gtG>gtT	p.V233V		NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	233					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)	GTGGGAGGACCACAGGGGTAT	0.602000													9	62					1.33987e-11	1.43558e-11	1	1	0
ENGASE	64772	broad.mit.edu	37	17	77082120	77082120	+	Missense_Mutation	SNP	G	G	T			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr17:77082120G>T	ENST00000579016.1	+	14	1921	c.1921G>T	c.(1921-1923)Gct>Tct	p.A641S		NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	641						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						GGGGCCCCCTGCTCTGCTCCA	0.657000													11	39					1.58986e-06	1.64469e-06	1	1	0
PPFIBP2	8495	broad.mit.edu	37	11	7662771	7662771	+	Silent	SNP	G	G	A			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr11:7662771G>A	ENST00000299492.4	+	16	1825	c.1437G>A	c.(1435-1437)tcG>tcA	p.S479S	PPFIBP2_ENST00000533792.1_Silent_p.S321S|PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000530181.1_Silent_p.S336S|PPFIBP2_ENST00000528883.1_Silent_p.S367S	NM_003621.3	NP_003612.2	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	479					cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		CCACATCATCGGGCACTGAAT	0.483000													3	54					0	0	1	0	0
GLRB	2743	broad.mit.edu	37	4	158059959	158059959	+	Splice_Site	SNP	A	A	G			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr4:158059959A>G	ENST00000264428.4	+	7	880		c.e7-1		GLRB_ENST00000512619.1_Intron|GLRB_ENST00000541722.1_Splice_Site|GLRB_ENST00000509282.1_Splice_Site	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta						nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	TTTTGTTTATAGTTGGTTACA	0.259000													39	46					0	0	1	0	0
GABRA2	2555	broad.mit.edu	37	4	46388112	46388112	+	Missense_Mutation	SNP	G	G	C			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr4:46388112G>C	ENST00000507460.1	-	3	498	c.166C>G	c.(166-168)Cgg>Ggg	p.R56G	GABRA2_ENST00000381620.4_Missense_Mutation_p.R56G|GABRA2_ENST00000356504.1_Missense_Mutation_p.R56G|GABRA2_ENST00000515082.1_Missense_Mutation_p.R56G|GABRA2_ENST00000514090.1_Missense_Mutation_p.R56G|GABRA2_ENST00000507069.1_Missense_Mutation_p.R56G|GABRA2_ENST00000540012.1_Missense_Mutation_p.I23M|GABRA2_ENST00000510861.1_Missense_Mutation_p.R56G|GABRA2_ENST00000509716.1_5'UTR			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	56					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GGTCTAAGCCGATTATCGTAA	0.353000													8	31					0	0	1	0	0
FAM19A4	151647	broad.mit.edu	37	3	68788283	68788283	+	Silent	SNP	C	C	G			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr3:68788283C>G	ENST00000295569.7	-	5	846	c.354G>C	c.(352-354)gtG>gtC	p.V118V		NM_001005527.2|NM_182522.4	NP_001005527.1|NP_872328.1	Q96LR4	F19A4_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A4	118						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(5)|skin(2)	10		Lung NSC(201;0.0198)		BRCA - Breast invasive adenocarcinoma(55;1.38e-05)|Epithelial(33;0.000124)|LUSC - Lung squamous cell carcinoma(21;0.0248)|KIRC - Kidney renal clear cell carcinoma(39;0.0729)|Kidney(39;0.0904)		AATCTGGCAGCACTTTACAAT	0.393000													55	79					0	0	1	0	0
CD46	4179	broad.mit.edu	37	1	207930905	207930905	+	Missense_Mutation	SNP	C	C	T			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr1:207930905C>T	ENST00000358170.2	+	3	463	c.307C>T	c.(307-309)Cgg>Tgg	p.R103W	CD46_ENST00000367047.1_Missense_Mutation_p.R40W|CD46_ENST00000357714.1_Missense_Mutation_p.R103W|CD46_ENST00000354848.1_Missense_Mutation_p.R103W|CD46_ENST00000360212.2_Missense_Mutation_p.R103W|CD46_ENST00000441839.2_Missense_Mutation_p.R103W|CD46_ENST00000367042.1_Missense_Mutation_p.R103W|CD46_ENST00000367041.1_Missense_Mutation_p.R103W|CD46_ENST00000322875.4_Missense_Mutation_p.R103W|CD46_ENST00000480003.1_Missense_Mutation_p.R103W|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000322918.5_Missense_Mutation_p.R103W|CD46_ENST00000361067.1_Missense_Mutation_p.R103W	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN	CD46 molecule, complement regulatory protein	103	Sushi 2.				complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization	inner acrosomal membrane|integral to plasma membrane	protein binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						TCCATATATACGGGATCCTTT	0.363000													6	32					0	0	1	0	0
IGKV1-6	0	broad.mit.edu	37	2	89265927	89265927	+	RNA	SNP	G	G	A			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr2:89265927G>A	ENST00000464162.1	-	0	233																											GCATAGATCAGGAGCTTAGGG	0.517000													9	202					0	0	1	0	0
CHRNA1	1134	broad.mit.edu	37	2	175619022	175619022	+	Silent	SNP	A	A	G			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr2:175619022A>G	ENST00000348749.5	-	5	542	c.465T>C	c.(463-465)ttT>ttC	p.F155F	CHRNA1_ENST00000261007.5_Silent_p.F180F|CHRNA1_ENST00000409219.1_Silent_p.F155F|CHRNA1_ENST00000409323.1_Silent_p.F155F|CHRNA1_ENST00000409542.1_Intron|AC018890.6_ENST00000442996.1_RNA	NM_000079.3	NP_000070.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	180					muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						CATCAAAGGGAAAGTGGGTGA	0.522000													19	24					0	0	1	0	0
FAH	2184	broad.mit.edu	37	15	80465431	80465431	+	Missense_Mutation	SNP	C	C	T	rs80338898		TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr15:80465431C>T	ENST00000539156.1	+	8	2810	c.572C>T	c.(571-573)cCg>cTg	p.P191L	FAH_ENST00000558627.1_3'UTR|FAH_ENST00000561421.1_Missense_Mutation_p.P261L|FAH_ENST00000261755.5_Missense_Mutation_p.P261L|FAH_ENST00000407106.1_Missense_Mutation_p.P261L			P16930	FAAA_HUMAN	fumarylacetoacetate hydrolase (fumarylacetoacetase)	261					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	fumarylacetoacetase activity|metal ion binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ACTGTCTCTCCGTGGGTGGTG	0.577000									Tyrosinemia, type 1		OREG0023354	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	52					0	0	1	0	0
MC5R	4161	broad.mit.edu	37	18	13825781	13825781	+	Missense_Mutation	SNP	A	A	G			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr18:13825781A>G	ENST00000324750.3	+	1	239	c.17A>G	c.(16-18)cAc>cGc	p.H6R		NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	6					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						TCCTCATTTCACCTGCATTTC	0.418000													11	59					0	0	1	0	0
ANGPT1	284	broad.mit.edu	37	8	108334251	108334251	+	Silent	SNP	T	T	G			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr8:108334251T>G	ENST00000520734.1	-	3	366	c.81A>C	c.(79-81)acA>acC	p.T27T	ANGPT1_ENST00000520052.1_Silent_p.T27T			Q15389	ANGP1_HUMAN	angiopoietin 1	227					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			GGATTATATATGTTTGACGAG	0.418000													12	127					0	0	1	0	0
EPHA3	2042	broad.mit.edu	37	3	89390920	89390920	+	Missense_Mutation	SNP	C	C	A			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr3:89390920C>A	ENST00000336596.2	+	5	1211	c.986C>A	c.(985-987)cCa>cAa	p.P329Q	EPHA3_ENST00000494014.1_Missense_Mutation_p.P329Q|EPHA3_ENST00000452448.2_Missense_Mutation_p.P329Q	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	329	Fibronectin type-III 1.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CCATCTTCACCAAGAAATGTT	0.403000										TSP Lung(6;0.00050)			8	30					1.26484e-09	1.33142e-09	1	1	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	33					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152276230	152276230	+	Missense_Mutation	SNP	A	A	G			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr1:152276230A>G	ENST00000368799.1	-	3	11167	c.11132T>C	c.(11131-11133)cTc>cCc	p.L3711P	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3711	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CACCTGGTAGAGGAAAGACCC	0.617000									Ichthyosis				95	171					0	0	1	0	0
OR10J5	127385	broad.mit.edu	37	1	159505100	159505100	+	Missense_Mutation	SNP	C	C	T	rs141462119		TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr1:159505100C>T	ENST00000334857.2	-	1	742	c.698G>A	c.(697-699)cGg>cAg	p.R233Q		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	233			R -> W (in dbSNP:rs35393723).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					GGTCTTCTTCCGGCCCTCAGC	0.483000													13	44					0	0	1	0	0
PCDHB12	0	broad.mit.edu	37	5	140590836	140590836	+	Missense_Mutation	SNP	A	A	G			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr5:140590836A>G	ENST00000239450.2	+	1	2546	c.2357A>G	c.(2356-2358)aAt>aGt	p.N786S	PCDHB12_ENST00000541609.1_Missense_Mutation_p.N449S	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		786					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTCGAAGAAAATCCCCCATTT	0.383000													27	50					0	0	1	0	0
COL21A1	0	broad.mit.edu	37	6	55924013	55924013	+	Missense_Mutation	SNP	C	C	T			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr6:55924013C>T	ENST00000244728.5	-	29	3033	c.2636G>A	c.(2635-2637)gGg>gAg	p.G879E	COL21A1_ENST00000535941.1_Missense_Mutation_p.G879E|COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000370808.2_Missense_Mutation_p.G245E|COL21A1_ENST00000370819.1_Missense_Mutation_p.G876E	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	879	Collagen-like 6.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CCCTTGGCTCCCTTTTTCCCC	0.448000													7	17					0	0	1	0	0
OR5M9	390162	broad.mit.edu	37	11	56230095	56230095	+	Silent	SNP	G	G	C			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr11:56230095G>C	ENST00000279791.1	-	1	782	c.783C>G	c.(781-783)ccC>ccG	p.P261P		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P261P(1)|p.P261Q(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					ATTCCTCAGTGGGTCTCCTGA	0.493000													10	42					0	0	1	0	0
SYCE1	93426	broad.mit.edu	37	10	135370647	135370647	+	Missense_Mutation	SNP	A	A	T			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr10:135370647A>T	ENST00000368517.3	-	7	418	c.280T>A	c.(280-282)Ttg>Atg	p.L94M	SYCE1_ENST00000432597.2_Missense_Mutation_p.L94M|SPRN_ENST00000541506.1_Intron|SYCE1_ENST00000343131.5_Missense_Mutation_p.L130M	NM_130784.2	NP_570140.1	Q8N0S2	SYCE1_HUMAN	synaptonemal complex central element protein 1	130					cell division	central element				breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		CACTCCTGCAACATGGTGTGC	0.547000													32	134					0	0	1	0	0
KRT34	3885	broad.mit.edu	37	17	39535345	39535345	+	Silent	SNP	G	G	A			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr17:39535345G>A	ENST00000394001.1	-	6	1116	c.1086C>T	c.(1084-1086)aaC>aaT	p.N362N		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	362	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				GAGACTCCACGTTGGTGATCA	0.617000													30	50					0	0	1	0	0
DUS4L	11062	broad.mit.edu	37	7	107215662	107215662	+	Missense_Mutation	SNP	G	G	C			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr7:107215662G>C	ENST00000265720.3	+	6	748	c.386G>C	c.(385-387)tGc>tCc	p.C129S	DUS4L_ENST00000402620.1_Missense_Mutation_p.C8S	NM_001270419.1|NM_181581.2	NP_001257348.1|NP_853559.1	O95620	DUS4L_HUMAN	dihydrouridine synthase 4-like (S. cerevisiae)	129					tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8						TATGGGGCTTGCTTAATAAAC	0.363000													12	86					0	0	1	0	0
CRYAB	1410	broad.mit.edu	37	11	111779528	111779528	+	Missense_Mutation	SNP	C	C	T			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr11:111779528C>T	ENST00000533475.1	-	4	937	c.488G>A	c.(487-489)cGt>cAt	p.R163H	CRYAB_ENST00000526180.1_Missense_Mutation_p.R163H|CRYAB_ENST00000227251.3_Missense_Mutation_p.R163H|CRYAB_ENST00000533280.1_Missense_Mutation_p.R96H|CRYAB_ENST00000531198.1_Missense_Mutation_p.R163H|CRYAB_ENST00000525823.1_Missense_Mutation_p.R96H|CRYAB_ENST00000527950.1_Missense_Mutation_p.R163H	NM_001885.1	NP_001876.1	P02511	CRYAB_HUMAN	crystallin, alpha B	163					anti-apoptosis|muscle contraction|negative regulation of intracellular transport|protein folding|protein homooligomerization|response to heat	cytoplasm|nucleus	protein homodimerization activity|structural constituent of eye lens|unfolded protein binding	p.R163H(1)		endometrium(1)|large_intestine(1)|lung(2)|skin(4)	8		all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)		CTTCTCTTCACGGGTGATGGG	0.493000													16	55					0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11143976	11143976	+	Missense_Mutation	SNP	C	C	T			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr19:11143976C>T	ENST00000358026.2	+	26	3841	c.3557C>T	c.(3556-3558)gCg>gTg	p.A1186V	SMARCA4_ENST00000413806.3_Missense_Mutation_p.A1186V|SMARCA4_ENST00000450717.3_Missense_Mutation_p.A1186V|SMARCA4_ENST00000429416.3_Missense_Mutation_p.A1186V|SMARCA4_ENST00000589677.1_Missense_Mutation_p.A1186V|SMARCA4_ENST00000590574.1_Missense_Mutation_p.A1186V|SMARCA4_ENST00000541122.2_Missense_Mutation_p.A1186V|SMARCA4_ENST00000344626.4_Missense_Mutation_p.A1186V|SMARCA4_ENST00000444061.3_Missense_Mutation_p.A1186V	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1186	Helicase C-terminal.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.A1186G(2)|p.A1186V(1)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GACCTGCAAGCGCAGGACCGA	0.622000			"""F, N, Mis"""		NSCLC								13	23					0	0	1	0	0
NCR1	9437	broad.mit.edu	37	19	55420628	55420628	+	Missense_Mutation	SNP	C	C	T	rs142626797		TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr19:55420628C>T	ENST00000594765.1	+	4	405	c.380C>T	c.(379-381)tCg>tTg	p.S127L	NCR1_ENST00000357397.5_Missense_Mutation_p.S20L|NCR1_ENST00000291890.4_Missense_Mutation_p.S127L|NCR1_ENST00000338835.5_Missense_Mutation_p.S127L|NCR1_ENST00000447255.1_Missense_Mutation_p.S127L|NCR1_ENST00000350790.5_Missense_Mutation_p.S32L|NCR1_ENST00000598576.1_Missense_Mutation_p.S115L			O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	127					cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		CCCACCCTCTCGGTTCATCCT	0.483000													11	34					0	0	1	0	0
RP11-417J8.6	0	broad.mit.edu	37	1	142713956	142713956	+	RNA	SNP	G	G	A	rs12161184	by1000genomes	TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr1:142713956G>A	ENST00000369381.2	-	0	649																											AAGTTAAAGAGTAACCTGCAC	0.308000													3	30					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		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)		GCACAAACACGCACCTCAAAG	0.542000	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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)			17	2					0	0	1	0	0
LL22NC03-80A10.6	0	broad.mit.edu	37	22	22664141	22664141	+	RNA	SNP	G	G	A			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr22:22664141G>A	ENST00000426066.1	+	0	664					NR_027293.1																						AAATTTGAAGGTGCTGTGATT	0.448000													4	51					0	0	1	0	0
OR5M9	390162	broad.mit.edu	37	11	56230096	56230096	+	Missense_Mutation	SNP	G	G	A			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr11:56230096G>A	ENST00000279791.1	-	1	781	c.782C>T	c.(781-783)cCc>cTc	p.P261L		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P261Q(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					TTCCTCAGTGGGTCTCCTGAG	0.488000													10	42					0	0	1	0	0
TFEB	7942	broad.mit.edu	37	6	41654880	41654880	+	Missense_Mutation	SNP	T	T	C			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr6:41654880T>C	ENST00000394283.1	-	7	1981	c.755A>G	c.(754-756)aAt>aGt	p.N252S	TFEB_ENST00000420312.1_Missense_Mutation_p.N167S|TFEB_ENST00000358871.2_Missense_Mutation_p.N266S|TFEB_ENST00000230323.4_Missense_Mutation_p.N252S|TFEB_ENST00000403298.4_Missense_Mutation_p.N252S|TFEB_ENST00000373033.1_Missense_Mutation_p.N252S			P19484	TFEB_HUMAN	transcription factor EB	252	Helix-loop-helix motif.				embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	11	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			GATGCGGTCATTGATGTTGAA	0.547000			T	ALPHA	renal (childhood epithelioid)								5	18					0	0	1	0	0
RGS13	6003	broad.mit.edu	37	1	192628531	192628531	+	Missense_Mutation	SNP	T	T	A			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr1:192628531T>A	ENST00000391995.2	+	7	646	c.358T>A	c.(358-360)Tgt>Agt	p.C120S	RGS13_ENST00000543215.1_Missense_Mutation_p.C120S|RGS13_ENST00000482095.1_3'UTR	NM_002927.4	NP_002918.1	O14921	RGS13_HUMAN	regulator of G-protein signaling 13	120	RGS.					plasma membrane	GTPase activator activity|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|skin(1)	19						CACTGAAACATGTTTTGAAGA	0.348000													11	47					0	0	1	0	0
ARHGAP1	392	broad.mit.edu	37	11	46701805	46701805	+	Missense_Mutation	SNP	C	C	G			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr11:46701805C>G	ENST00000311956.4	-	10	945	c.848G>C	c.(847-849)aGg>aCg	p.R283T		NM_004308.2	NP_004299.1	Q07960	RHG01_HUMAN	Rho GTPase activating protein 1	283	Rho-GAP.				Rho protein signal transduction	cytosol|intracellular membrane-bounded organelle	SH3 domain binding|SH3/SH2 adaptor activity			endometrium(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)		GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153)		GTTGGCCGACCTCCGGAAGAT	0.617000													10	43					0	0	1	0	0
FLNA	0	broad.mit.edu	37	X	153586584	153586584	+	Silent	SNP	G	G	A			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chrX:153586584G>A	ENST00000422373.1	-	28	4986	c.4738C>T	c.(4738-4740)Ctg>Ttg	p.L1580L	FLNA_ENST00000344736.4_Silent_p.L1580L|FLNA_ENST00000369856.3_5'UTR|FLNA_ENST00000360319.4_Silent_p.L1580L|FLNA_ENST00000369850.3_Silent_p.L1580L	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	1580	Interaction with furin (By similarity).				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGGACAGCCAGCAGGCCCTCC	0.697000													3	9					0	0	1	0	0
OR5A1	219982	broad.mit.edu	37	11	59210797	59210797	+	Silent	SNP	C	C	T			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr11:59210797C>T	ENST00000302030.2	+	1	181	c.156C>T	c.(154-156)atC>atT	p.I52I		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	52			I -> V (in dbSNP:rs17153732).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						TTTTTCTGATCAGAGGTGACA	0.498000													18	102					0	0	1	0	0
CD1E	913	broad.mit.edu	37	1	158325645	158325645	+	Silent	SNP	C	C	T			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr1:158325645C>T	ENST00000444681.2	+	3	650	c.357C>T	c.(355-357)ggC>ggT	p.G119G	CD1E_ENST00000368164.3_Silent_p.G29G|CD1E_ENST00000368160.3_Silent_p.G218G|CD1E_ENST00000368161.3_Silent_p.G218G|CD1E_ENST00000368163.3_Silent_p.G218G|CD1E_ENST00000368155.3_Silent_p.G128G|CD1E_ENST00000368154.1_Silent_p.G29G|CD1E_ENST00000368166.3_Silent_p.G29G|CD1E_ENST00000368156.1_Silent_p.G128G|CD1E_ENST00000368167.3_Silent_p.G218G|CD1E_ENST00000434258.1_Silent_p.G216G|CD1E_ENST00000368165.3_Silent_p.G128G|CD1E_ENST00000452291.2_Silent_p.G29G|CD1E_ENST00000368157.1_Silent_p.G29G	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule	218					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					TGTCCTGTGGCCCCAGTCCTG	0.572000													12	46					0	0	1	0	0
ADAMTS17	170691	broad.mit.edu	37	15	100695507	100695507	+	Silent	SNP	G	G	A			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr15:100695507G>A	ENST00000268070.4	-	9	1305	c.1200C>T	c.(1198-1200)gaC>gaT	p.D400D		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	400	Peptidase M12B.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		AGTGGTCATCGTCGTGGTTCA	0.557000													4	12					0	0	1	0	0
LENG9	94059	broad.mit.edu	37	19	54974125	54974125	+	Silent	SNP	C	C	T			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr19:54974125C>T	ENST00000333834.4	-	1	769	c.651G>A	c.(649-651)ccG>ccA	p.P217P		NM_198988.1	NP_945339.2	Q96B70	LENG9_HUMAN	leukocyte receptor cluster (LRC) member 9	217					RNA metabolic process	intracellular	catalytic activity|nucleic acid binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)	11	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.134)		CTGTGCAGAGCGGCCTTGTGC	0.701000													5	25					0	0	1	0	0
REST	5978	broad.mit.edu	37	4	57796251	57796251	+	Silent	SNP	A	A	G			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr4:57796251A>G	ENST00000309042.7	+	4	1541	c.1227A>G	c.(1225-1227)aaA>aaG	p.K409K		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	409	Lys-rich.				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					ATCACTTCAAATCTAAGCATC	0.378000													29	129					0	0	1	0	0
MMP3	4314	broad.mit.edu	37	11	102711301	102711301	+	Missense_Mutation	SNP	C	C	A			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr11:102711301C>A	ENST00000299855.5	-	5	905	c.649G>T	c.(649-651)Gct>Tct	p.A217S		NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	217					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	ATTTCATGAGCAGCAACGAGA	0.413000													4	56					0.00024832	0.000252529	1	1	0
RIPK1	8737	broad.mit.edu	37	6	3106127	3106127	+	Missense_Mutation	SNP	G	G	A			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr6:3106127G>A	ENST00000259808.4	+	9	1716	c.1418G>A	c.(1417-1419)gGc>gAc	p.G473D	RIPK1_ENST00000380409.2_Missense_Mutation_p.G473D|RIPK1_ENST00000479389.1_3'UTR|RIPK1_ENST00000541791.1_Missense_Mutation_p.G427D			Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine kinase 1	473	Interaction with SQSTM1.				activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex	ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				AGCTCACATGGCTTTGGAACA	0.498000													4	32					0	0	1	0	0
GCKR	2646	broad.mit.edu	37	2	27722069	27722071	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr2:27722069_27722071delGAA	ENST00000264717.2	+	6	552_554	c.489_491delGAA	c.(487-492)ctg>ct	p.LK163del	GCKR_ENST00000424318.2_Intron	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	163	SIS 1.				carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					TTGAGGAACTGAAGAAGGTCTGT	0.512													10	53	---	---	---	---					
AC074391.1	0	broad.mit.edu	37	2	65738863	65738863	+	RNA	DEL	G	G	-			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr2:65738863delG	ENST00000377977.3	+	0	862																											TTTTTTTTTTGTCCAGGAGGC	0.303													2	4	---	---	---	---					
AC007563.5	0	broad.mit.edu	37	2	217724844	217724844	+	RNA	DEL	G	G	-			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr2:217724844delG	ENST00000447289.1	+	0	510																											TGACAGGGAAGGGGCATGGCT	0.562													10	18	---	---	---	---					
RP11-324C10.1	0	broad.mit.edu	37	3	172992471	172992474	+	RNA	DEL	AAAC	AAAC	-			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr3:172992471_172992474delAAAC	ENST00000447709.1	+	0	216																											tccgtctcaaaaacaaacaaacaa	0.505													3	3	---	---	---	---					
C6orf223	221416	broad.mit.edu	37	6	43970504	43970509	+	In_Frame_Del	DEL	GCGGCG	GCGGCG	-	rs72369323		TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr6:43970504_43970509delGCGGCG	ENST00000336600.5	+	4	390_395	c.370_375delGCGGCG	c.(370-375)del	p.AA130del	RP5-1120P11.1_ENST00000607590.1_RNA|RP5-1120P11.1_ENST00000422059.1_RNA|C6orf223_ENST00000439969.2_3'UTR|C6orf223_ENST00000448947.2_3'UTR	NM_001171992.1|NM_153246.4	NP_001165463.1|NP_694978.2	Q8N319	CF223_HUMAN	chromosome 6 open reading frame 223	130	Ala-rich.									central_nervous_system(1)|lung(2)|pancreas(1)|prostate(1)|urinary_tract(1)	6	all_cancers(18;2.28e-07)|all_epithelial(2;1.62e-08)|Lung NSC(15;0.000172)|all_lung(25;0.000533)|Hepatocellular(11;0.00309)|Ovarian(13;0.0437)		all cancers(41;0.00141)|Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.217)			GGTAGAGCGCgcggcggcggcggcgg	0.772													5	6	---	---	---	---					
RP11-1060J15.4	0	broad.mit.edu	37	12	27855674	27855674	+	RNA	DEL	T	T	-			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr12:27855674delT	ENST00000536317.1	-	0	519				RP11-1060J15.4_ENST00000542660.1_RNA|RP11-1060J15.4_ENST00000536922.1_RNA																							ACAAGCAGCCTTATGAAAAGA	0.448													2	4	---	---	---	---					
POLG	5428	broad.mit.edu	37	15	89876828	89876830	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr15:89876828_89876830delTGC	ENST00000268124.5	-	2	489_491	c.156_158delGCA	c.(154-159)caa>ca	p.QQ54del	POLG_ENST00000442287.2_In_Frame_Del_p.QQ54del	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	54	Poly-Gln.				base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			aggctgctgttgctgctgctgct	0.690								DNA polymerases (catalytic subunits)					4	8	---	---	---	---					
RP11-1166P10.6	0	broad.mit.edu	37	16	32077916	32077917	+	RNA	INS	-	-	TTT	rs139112308	by1000genomes	TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr16:32077916_32077917insTTT	ENST00000566806.1	-	0	499																											ATGGAAAACGGTTATTTTTTTG	0.421													3	4	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76939666	76939669	+	Frame_Shift_Del	DEL	TCAA	TCAA	-			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chrX:76939666_76939669delTCAA	ENST00000373344.5	-	9	1293_1296	c.1079_1082delTTGA	c.(1078-1083)agfs	p.IE360fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.IE322fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	360					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	GGCTGTGGTCTCAATCAGTTTTTT	0.368			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						38	75	---	---	---	---