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
APOBEC1	339	broad.mit.edu	37	12	7805211	7805211	+	Missense_Mutation	SNP	A	A	G			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr12:7805211A>G	ENST00000229304.4	-	3	285	c.265T>C	c.(265-267)Tcc>Ccc	p.S89P		NM_001644.3	NP_001635.2	P41238	ABEC1_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1	89					cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	cytidine deaminase activity|RNA binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						GGACTCCAGGACAAGAACCAG	0.458000													5	27					0	0	1	0	0
MUC7	4589	broad.mit.edu	37	4	71346917	71346917	+	Silent	SNP	T	T	A			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr4:71346917T>A	ENST00000413702.1	+	4	744	c.456T>A	c.(454-456)gcT>gcA	p.A152A	MUC7_ENST00000456088.1_Silent_p.A152A|MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000304887.5_Silent_p.A152A	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	152	Thr-rich.					extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			CTTCTGTAGCTACATTAGCAC	0.483000													4	80					0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45267208	45267208	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr5:45267208T>C	ENST00000303230.4	-	7	1823	c.1766A>G	c.(1765-1767)gAc>gGc	p.D589G		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	589						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						ATCTAGTCGGTCAATGGCAAC	0.388000													8	100					0	0	1	0	0
AFF2	2334	broad.mit.edu	37	X	147733566	147733566	+	Silent	SNP	C	C	A	rs143135907		TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chrX:147733566C>A	ENST00000370460.2	+	2	573	c.94C>A	c.(94-96)Cgg>Agg	p.R32R	AFF2_ENST00000342251.3_Silent_p.R32R|AFF2_ENST00000370457.5_Silent_p.R32R|AFF2_ENST00000370458.1_Silent_p.R32R	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	32					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	p.R32W(2)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GGAATGGGAGCGGAGGAATCA	0.368000													32	30					4.39465e-27	5.27358e-27	1	1	0
INTS5	80789	broad.mit.edu	37	11	62414553	62414553	+	Missense_Mutation	SNP	C	C	G			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr11:62414553C>G	ENST00000330574.2	-	2	3051	c.2999G>C	c.(2998-3000)gGt>gCt	p.G1000A		NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	1000					snRNA processing	integral to membrane|integrator complex	protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						AGAGAAAAGACCTAGGCGGTC	0.602000													9	52					0	0	1	0	0
SNX8	29886	broad.mit.edu	37	7	2297433	2297433	+	Missense_Mutation	SNP	C	C	A			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr7:2297433C>A	ENST00000222990.3	-	8	963	c.921G>T	c.(919-921)aaG>aaT	p.K307N		NM_013321.2	NP_037453.1	Q9Y5X2	SNX8_HUMAN	sorting nexin 8	307					cell communication|early endosome to Golgi transport|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(2)|skin(3)	26		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		TCTCTTCCTGCTTACCCTGGA	0.612000													35	137					6.29468e-14	7.43917e-14	1	1	0
KRT75	9119	broad.mit.edu	37	12	52827742	52827742	+	Missense_Mutation	SNP	C	C	A			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr12:52827742C>A	ENST00000252245.5	-	1	567	c.347G>T	c.(346-348)tGt>tTt	p.C116F		NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	116	Gly-rich.|Head.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		TCCAGGGGGACACACGGGGAA	0.612000													8	49					0.00448238	0.00466168	1	1	0
SLC25A6	293	broad.mit.edu	37	X	1508390	1508390	+	Silent	SNP	C	C	G			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chrX:1508390C>G	ENST00000381401.5	-	2	1056	c.342G>C	c.(340-342)gcG>gcC	p.A114A	SLC25A6_ENST00000475167.1_5'UTR	NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6	114					active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle	integral to membrane|mitochondrial inner membrane presequence translocase complex	ATP:ADP antiporter activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)	CCAGGTTGCCCGCAAAGTACC	0.622000													32	101					0	0	1	0	0
CTSG	1511	broad.mit.edu	37	14	25043530	25043530	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr14:25043530C>T	ENST00000216336.2	-	4	551	c.515G>A	c.(514-516)tGc>tAc	p.C172Y		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	172	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		GATGCGGAGGCACTGCCTATC	0.627000													13	31					0	0	1	0	0
SEC24C	9632	broad.mit.edu	37	10	75530047	75530047	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr10:75530047C>T	ENST00000339365.2	+	22	3034	c.2872C>T	c.(2872-2874)Ccc>Tcc	p.P958S	SEC24C_ENST00000411652.2_Missense_Mutation_p.P839S|SEC24C_ENST00000345254.4_Missense_Mutation_p.P958S|SEC24C_ENST00000540668.1_Missense_Mutation_p.P206S|SEC24C_ENST00000535742.1_Missense_Mutation_p.P206S|SEC24C_ENST00000496827.1_3'UTR	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	958					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					GACAAAGTCTCCCGTTGAGAG	0.478000													39	157					0	0	1	0	0
DDX58	23586	broad.mit.edu	37	9	32457378	32457378	+	Silent	SNP	T	T	C			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr9:32457378T>C	ENST00000379882.1	-	17	2542	c.2385A>G	c.(2383-2385)gaA>gaG	p.E795E	DDX58_ENST00000379883.2_Silent_p.E840E|DDX58_ENST00000379868.1_Silent_p.E637E|DDX58_ENST00000542096.1_Silent_p.E769E			O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	840	Repressor domain.				detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		TCACAAAGCATTCCTTAAAAG	0.418000													4	45					0	0	1	0	0
ZCWPW1	55063	broad.mit.edu	37	7	99998887	99998887	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr7:99998887C>T	ENST00000398027.2	-	18	1944	c.1697G>A	c.(1696-1698)aGa>aAa	p.R566K	ZCWPW1_ENST00000490721.1_Missense_Mutation_p.R395K|ZCWPW1_ENST00000360951.4_Missense_Mutation_p.E496K|ZCWPW1_ENST00000324725.6_Missense_Mutation_p.R395K	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	566							zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGGCACTGTTCTAACTTCTTT	0.532000													15	55					0	0	1	0	0
BACE2	25825	broad.mit.edu	37	21	42613819	42613819	+	Missense_Mutation	SNP	A	A	G			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr21:42613819A>G	ENST00000330333.6	+	4	1155	c.692A>G	c.(691-693)cAg>cGg	p.Q231R	BACE2_ENST00000328735.6_Missense_Mutation_p.Q231R|BACE2_ENST00000466122.1_3'UTR|BACE2_ENST00000347667.4_Missense_Mutation_p.Q231R	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2	231					membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing	cell surface|endoplasmic reticulum|endosome|Golgi apparatus|integral to membrane	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				TTCTCCATGCAGATGTGTGGA	0.537000													31	111					0	0	1	0	0
CTPS1	1503	broad.mit.edu	37	1	41466743	41466743	+	Missense_Mutation	SNP	G	G	C			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr1:41466743G>C	ENST00000372621.4	+	10	1556	c.1048G>C	c.(1048-1050)Gag>Cag	p.E350Q	CTPS1_ENST00000541520.1_Missense_Mutation_p.E119Q|CTPS1_ENST00000372616.1_Missense_Mutation_p.E350Q	NM_001905.2	NP_001896.2	P17812	PYRG1_HUMAN	CTP synthase 1	350	Glutamine amidotransferase type-1.				CTP biosynthetic process|glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|response to drug	cytosol	ATP binding|CTP synthase activity|protein binding			endometrium(3)|lung(10)	13					L-Glutamine(DB00130)	CTCGCAAGAAGAGCCCGTGCG	0.517000													7	16					0	0	1	0	0
AGO2	27161	broad.mit.edu	37	8	141570542	141570542	+	Nonsense_Mutation	SNP	G	G	A			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr8:141570542G>A	ENST00000220592.5	-	5	698	c.586C>T	c.(586-588)Cga>Tga	p.R196*	AGO2_ENST00000519980.1_Nonsense_Mutation_p.R196*	NM_012154.3	NP_036286.2			argonaute RISC catalytic component 2																		CACACTTCTCGGCCCCCGCCA	0.612000													11	83					0	0	1	0	0
SPATA31C1	0	broad.mit.edu	37	9	90535736	90535736	+	RNA	SNP	T	T	A			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr9:90535736T>A	ENST00000602681.1	+	0	1640																											TGGTGCATCTTCAACTCGTCA	0.577000													36	93					0	0	1	0	0
CCDC80	151887	broad.mit.edu	37	3	112357581	112357581	+	Nonsense_Mutation	SNP	G	G	T			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr3:112357581G>T	ENST00000206423.3	-	2	2125	c.1172C>A	c.(1171-1173)tCa>tAa	p.S391*	CCDC80_ENST00000439685.2_Nonsense_Mutation_p.S391*	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	391	Thr-rich.									breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						GTGGGAGGGTGAGGGGGTCCA	0.602000													4	33					0.150653	0.15261	1	1	0
AC096579.13	0	broad.mit.edu	37	2	89156907	89156907	+	RNA	SNP	G	G	A			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr2:89156907G>A	ENST00000452230.1	-	0	39				IGKC_ENST00000390237.2_RNA|AC096579.7_ENST00000430694.1_RNA																							TCTTTGTGACGGGCGAGCTCA	0.592000													14	41					0	0	1	0	0
PHKA2	5256	broad.mit.edu	37	X	18912456	18912456	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chrX:18912456C>T	ENST00000379942.4	-	32	4068	c.3403G>A	c.(3403-3405)Gag>Aag	p.E1135K	PHKA2-AS1_ENST00000439295.1_RNA|PHKA2_ENST00000481718.1_5'UTR	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	1135					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					TGCCGGTACTCGGGCTGCGGC	0.602000													3	32					0	0	1	0	0
ITGAL	0	broad.mit.edu	37	16	30516582	30516582	+	Silent	SNP	G	G	A			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr16:30516582G>A	ENST00000356798.6	+	19	2433	c.2253G>A	c.(2251-2253)ccG>ccA	p.P751P	ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Silent_p.P667P	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	751					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	AGGACATACCGCCCATCCTGA	0.607000													7	26					0	0	1	0	0
ABCD2	225	broad.mit.edu	37	12	40012694	40012694	+	Missense_Mutation	SNP	G	G	T			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr12:40012694G>T	ENST00000308666.3	-	1	859	c.724C>A	c.(724-726)Ctc>Atc	p.L242I		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	242	ABC transmembrane type-1.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						GTTTGAATGAGTGTATAGGAG	0.443000													17	65					4.14922e-12	4.7594e-12	1	1	0
AMOT	154796	broad.mit.edu	37	X	112024248	112024248	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chrX:112024248G>A	ENST00000371959.3	-	9	2338	c.2339C>T	c.(2338-2340)tCg>tTg	p.S780L	AMOT_ENST00000371962.1_Missense_Mutation_p.S548L|AMOT_ENST00000371958.1_Missense_Mutation_p.S548L|AMOT_ENST00000304758.1_Missense_Mutation_p.S371L|AMOT_ENST00000524145.1_Missense_Mutation_p.S780L	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	780					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						CCGCATGCACGACAGCTGCTC	0.542000													5	94					0	0	1	0	0
MTDH	92140	broad.mit.edu	37	8	98736848	98736848	+	Missense_Mutation	SNP	G	G	C			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr8:98736848G>C	ENST00000336273.3	+	12	2027	c.1699G>C	c.(1699-1701)Gaa>Caa	p.E567Q	MTDH_ENST00000519934.1_Missense_Mutation_p.E511Q	NM_178812.3	NP_848927.2	Q86UE4	LYRIC_HUMAN	metadherin	567					lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade	apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction	NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			AACTAGCTGGGAATCTCCCAA	0.338000													14	79					0	0	1	0	0
C20orf85	128602	broad.mit.edu	37	20	56735827	56735827	+	Silent	SNP	C	C	T			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr20:56735827C>T	ENST00000371168.3	+	4	424	c.363C>T	c.(361-363)tgC>tgT	p.C121C		NM_178456.2	NP_848551.1	Q9H1P6	CT085_HUMAN	chromosome 20 open reading frame 85	121										kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	13	all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118)		BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07)			TCAGAAGCTGCAAAGGTGCTT	0.612000													9	14					0	0	1	0	0
TAX1BP1	8887	broad.mit.edu	37	7	27831673	27831673	+	Missense_Mutation	SNP	G	G	C			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr7:27831673G>C	ENST00000396319.2	+	9	1175	c.1087G>C	c.(1087-1089)Gtt>Ctt	p.V363L	TAX1BP1_ENST00000543117.1_Missense_Mutation_p.V363L|TAX1BP1_ENST00000265393.6_Missense_Mutation_p.V363L|TAX1BP1_ENST00000409980.1_Missense_Mutation_p.V363L|TAX1BP1_ENST00000433216.2_Missense_Mutation_p.V206L	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	363	Oligomerization.				anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			AGAGGAACAGGTTCAGGCAAC	0.408000													3	63					0	0	1	0	0
LL22NC03-80A10.6	0	broad.mit.edu	37	22	22664240	22664240	+	RNA	SNP	T	T	G			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr22:22664240T>G	ENST00000426066.1	+	0	763					NR_027293.1																						GATAAGCTGCTGATGAGCGGT	0.532000													3	44					0	0	1	0	0
RARG	5916	broad.mit.edu	37	12	53608330	53608330	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr12:53608330C>T	ENST00000425354.2	-	6	1023	c.536G>A	c.(535-537)aGc>aAc	p.S179N	RARG_ENST00000338561.5_Missense_Mutation_p.S168N|RARG_ENST00000543762.1_5'UTR|RARG_ENST00000543726.1_Missense_Mutation_p.S157N|RARG_ENST00000394426.1_Missense_Mutation_p.S179N|RARG_ENST00000327550.3_Missense_Mutation_p.S107N	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	179	Hinge.				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	CAGCTCATAGCTGTCAGGTGA	0.552000													3	37					0	0	1	0	0
SLC25A6	293	broad.mit.edu	37	X	1508388	1508388	+	Missense_Mutation	SNP	C	C	A			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chrX:1508388C>A	ENST00000381401.5	-	2	1058	c.344G>T	c.(343-345)gGc>gTc	p.G115V	SLC25A6_ENST00000475167.1_5'UTR	NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6	115					active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle	integral to membrane|mitochondrial inner membrane presequence translocase complex	ATP:ADP antiporter activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)	GGCCAGGTTGCCCGCAAAGTA	0.622000													32	102					2.68265e-12	3.12309e-12	1	1	0
CYBB	1536	broad.mit.edu	37	X	37641374	37641374	+	Missense_Mutation	SNP	G	G	C			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chrX:37641374G>C	ENST00000378588.4	+	2	146	c.79G>C	c.(79-81)Gtc>Ctc	p.V27L	CYBB_ENST00000536160.1_5'UTR|CYBB_ENST00000545017.1_Intron|TM4SF2_ENST00000465127.1_Intron	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	27					electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32						CTTCCTCTTTGTCTGGTATTA	0.413000													4	39					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186017954	186017954	+	Missense_Mutation	SNP	A	A	G	rs138702288		TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr1:186017954A>G	ENST00000271588.4	+	42	6789	c.6560A>G	c.(6559-6561)tAc>tGc	p.Y2187C	HMCN1_ENST00000367492.2_Missense_Mutation_p.Y2187C	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2187	Ig-like C2-type 19.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GAAAAAAACTACAATGTCAAC	0.353000													7	60					0	0	1	0	0
WDR20	91833	broad.mit.edu	37	14	102675209	102675209	+	Silent	SNP	C	C	T			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr14:102675209C>T	ENST00000335263.5	+	3	782	c.702C>T	c.(700-702)ttC>ttT	p.F234F	WDR20_ENST00000342702.3_Silent_p.F234F|WDR20_ENST00000556807.1_Silent_p.F173F|WDR20_ENST00000322340.5_Intron|WDR20_ENST00000556511.2_Silent_p.F173F|WDR20_ENST00000424963.2_Silent_p.F110F|WDR20_ENST00000299135.6_3'UTR|WDR20_ENST00000545563.1_Silent_p.F61F|WDR20_ENST00000499851.2_5'UTR|WDR20_ENST00000454394.2_Silent_p.F265F	NM_181291.2	NP_851808.1	Q8TBZ3	WDR20_HUMAN	WD repeat domain 20	234										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8						ATGGCAAGTTCTTAGCGTGCG	0.557000													8	34					0	0	1	0	0
OR2M2	391194	broad.mit.edu	37	1	248343434	248343434	+	Silent	SNP	C	C	T			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr1:248343434C>T	ENST00000359682.2	+	1	147	c.147C>T	c.(145-147)atC>atT	p.I49I		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	49					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TTCTCCTCATCTACCTGGACA	0.532000													9	225					0	0	1	0	0
SLC22A7	10864	broad.mit.edu	37	6	43271915	43271915	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr6:43271915G>A	ENST00000372585.5	+	10	1620	c.1525G>A	c.(1525-1527)Gcc>Acc	p.A509T	SLC22A7_ENST00000372574.3_Missense_Mutation_p.A507T|SLC22A7_ENST00000372589.3_Missense_Mutation_p.A507T	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	509						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity	p.A509T(1)		NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			TGCCGGCACCGCCCTCCTGCT	0.637000													21	55					0	0	1	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47605037	47605037	+	Missense_Mutation	SNP	A	A	G			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr20:47605037A>G	ENST00000371917.4	+	18	2371	c.2371A>G	c.(2371-2373)Aaa>Gaa	p.K791E		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	791					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			GGTAAAAAATAAAATGACGAA	0.294000													5	67					0	0	1	0	0
CCR1	1230	broad.mit.edu	37	3	46244884	46244884	+	Missense_Mutation	SNP	C	C	A			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr3:46244884C>A	ENST00000296140.3	-	2	1046	c.921G>T	c.(919-921)agG>agT	p.R307S	CCR3_ENST00000357422.2_Intron	NM_001295.2	NP_001286.1	P32246	CCR1_HUMAN	chemokine (C-C motif) receptor 1	307					cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	integral to plasma membrane	C-C chemokine receptor activity			autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		ACTTCCGGAACCTCTCACCAA	0.582000													4	21					0.0215528	0.0221199	1	1	0
SAMSN1	64092	broad.mit.edu	37	21	15882767	15882767	+	Missense_Mutation	SNP	C	C	A			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr21:15882767C>A	ENST00000285670.2	-	6	803	c.629G>T	c.(628-630)tGt>tTt	p.C210F	SAMSN1_ENST00000400564.1_Intron|SAMSN1_ENST00000400566.1_Missense_Mutation_p.C142F	NM_001256370.1	NP_001243299.1	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	142	SH3.				negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		ACCATCTGAACAGCTTGTTAT	0.453000													7	64					0.00307968	0.00324615	1	1	0
GPSM3	63940	broad.mit.edu	37	6	32159588	32159588	+	Missense_Mutation	SNP	C	C	A			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr6:32159588C>A	ENST00000375040.3	-	3	635	c.243G>T	c.(241-243)agG>agT	p.R81S	GPSM3_ENST00000487761.1_Missense_Mutation_p.R78S|GPSM3_ENST00000375043.3_Missense_Mutation_p.R81S	NM_001276501.1	NP_001263430.1	Q9Y4H4	GPSM3_HUMAN	G-protein signaling modulator 3	81	GoLoco 1.				signal transduction	cytoplasm	GTPase activator activity|protein binding			large_intestine(1)	1						AGAAGGTGGCCCTCTGCTCCT	0.642000													7	44					1.26484e-09	1.42982e-09	1	1	0
ZNF20	7568	broad.mit.edu	37	19	12244346	12244346	+	Nonsense_Mutation	SNP	G	G	A			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr19:12244346G>A	ENST00000334213.5	-	4	879	c.655C>T	c.(655-657)Cga>Tga	p.R219*	ZNF20_ENST00000600335.1_Intron|ZNF625-ZNF20_ENST00000430024.1_3'UTR	NM_001203250.1|NM_021143.3	NP_001190179.1|NP_066966.2	P17024	ZNF20_HUMAN	zinc finger protein 20	219					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|lung(6)	8						GTGTGAATTCGTTCATGGATA	0.393000													8	129					0	0	1	0	0
BUB3	9184	broad.mit.edu	37	10	124920076	124920076	+	Missense_Mutation	SNP	A	A	G			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr10:124920076A>G	ENST00000368865.4	+	5	780	c.571A>G	c.(571-573)Aag>Gag	p.K191E	BUB3_ENST00000368858.5_Missense_Mutation_p.K191E|BUB3_ENST00000538238.1_Missense_Mutation_p.K111E|BUB3_ENST00000368859.2_Intron	NM_004725.3	NP_004716.1	O43684	BUB3_HUMAN	BUB3 mitotic checkpoint protein	191					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|attachment of spindle microtubules to kinetochore|cell division|meiosis|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	condensed chromosome kinetochore|cytosol|nucleus	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)				GTTTCCAAACAAGCAGGTATT	0.438000													16	39					0	0	1	0	0
HRASLS5	117245	broad.mit.edu	37	11	63257732	63257732	+	Silent	SNP	G	G	T			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr11:63257732G>T	ENST00000540857.1	-	2	354	c.222C>A	c.(220-222)ggC>ggA	p.G74G	HRASLS5_ENST00000539221.1_Silent_p.G84G|HRASLS5_ENST00000301790.4_Silent_p.G84G	NM_001146728.1|NM_001146729.1|NM_054108.3	NP_001140200.1|NP_001140201.1|NP_473449.1	Q96KN8	HRSL5_HUMAN	HRAS-like suppressor family, member 5	84										endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						GGATGCTTCTGCCCTGTTCTA	0.483000													5	306					5.9392e-07	6.61797e-07	1	1	0
ACAT2	39	broad.mit.edu	37	6	160198397	160198397	+	Missense_Mutation	SNP	T	T	G			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr6:160198397T>G	ENST00000367048.4	+	7	2581	c.821T>G	c.(820-822)cTt>cGt	p.L274R	ACAT2_ENST00000472052.1_3'UTR|ACAT2_ENST00000541436.1_Missense_Mutation_p.L303R	NM_005891.2	NP_005882.2	Q9BWD1	THIC_HUMAN	acetyl-CoA acetyltransferase 2	274						mitochondrion|nucleolus	acetyl-CoA C-acetyltransferase activity|protein binding			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	9		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.51e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		AAACGTGGGCTTACACCTTTA	0.428000													19	76					0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175116119	175116119	+	Missense_Mutation	SNP	A	A	G			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr1:175116119A>G	ENST00000239462.4	+	19	3925	c.3812A>G	c.(3811-3813)gAg>gGg	p.E1271G		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1271	Fibrinogen C-terminal.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CCTTACGTGGAGTTGAAAATC	0.517000											OREG0013992	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	90					0	0	1	0	0
ZNF300	91975	broad.mit.edu	37	5	150276300	150276300	+	Silent	SNP	C	C	A			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr5:150276300C>A	ENST00000446148.2	-	7	976	c.549G>T	c.(547-549)ctG>ctT	p.L183L	ZNF300_ENST00000418587.2_Silent_p.L131L|ZNF300_ENST00000394226.2_Silent_p.L167L|ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000274599.5_Silent_p.L167L	NM_001172831.1	NP_001166302.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	167					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATATTTTCCCCAGTGGATTAT	0.343000													4	103					0.00024832	0.000272802	1	1	0
COL16A1	1307	broad.mit.edu	37	1	32138057	32138057	+	Missense_Mutation	SNP	A	A	T			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr1:32138057A>T	ENST00000373672.3	-	47	3581	c.3065T>A	c.(3064-3066)cTa>cAa	p.L1022Q	COL16A1_ENST00000271069.6_Missense_Mutation_p.L1022Q	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	1022	Triple-helical region 2 (COL2) with 2 imperfections.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		AGGACCAGGTAGGCCTGGGCT	0.607000													4	64					0	0	1	0	0
ARHGEF15	22899	broad.mit.edu	37	17	8218480	8218480	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr17:8218480C>T	ENST00000361926.3	+	6	1255	c.1145C>T	c.(1144-1146)gCa>gTa	p.A382V	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.A382V	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	382					negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						GCTGGAGATGCACCCACCTTC	0.627000													7	15					0	0	1	0	0
CWF19L2	143884	broad.mit.edu	37	11	107200696	107200696	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr11:107200696C>T	ENST00000282251.5	-	17	2516	c.2489G>A	c.(2488-2490)gGg>gAg	p.G830E		NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	830							catalytic activity			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		ATGGGCAAACCCTCCGTGAAG	0.388000													3	6					0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70333013	70333013	+	Missense_Mutation	SNP	C	C	G			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr11:70333013C>G	ENST00000338508.4	-	32	3387	c.3388G>C	c.(3388-3390)Gag>Cag	p.E1130Q	SHANK2_ENST00000449833.2_Missense_Mutation_p.E534Q|SHANK2_ENST00000423696.2_Missense_Mutation_p.E750Q|SHANK2_ENST00000409161.1_Missense_Mutation_p.E533Q			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	750					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			AAATCCCCCTCCTCGGGGAAC	0.677000													4	48					0	0	1	0	0
FAM26E	254228	broad.mit.edu	37	6	116833239	116833239	+	Missense_Mutation	SNP	G	G	C			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr6:116833239G>C	ENST00000368599.3	+	1	431	c.380G>C	c.(379-381)tGt>tCt	p.C127S	TRAPPC3L_ENST00000356128.4_Intron|TRAPPC3L_ENST00000368602.3_Intron	NM_153711.2	NP_714922.1	Q8N5C1	FA26E_HUMAN	family with sequence similarity 26, member E	127						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(87;0.0608)|all_epithelial(87;0.05)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0242)|all cancers(137;0.0419)|OV - Ovarian serous cystadenocarcinoma(136;0.0671)|Epithelial(106;0.212)		TTCTATGAATGTGCCATGAGC	0.498000													4	56					0	0	1	0	0
UBBP4	0	broad.mit.edu	37	17	21730847	21730847	+	Missense_Mutation	SNP	G	G	T			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr17:21730847G>T	ENST00000584755.1	+	2	546	c.149G>T	c.(148-150)cGg>cTg	p.R50L	UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000578713.1_Missense_Mutation_p.R50L																endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GGCAAGCAGCGGGAAGATGGC	0.522000													4	32					1	1	1	1	0
HRNR	388697	broad.mit.edu	37	1	152191168	152191168	+	Silent	SNP	C	C	T	rs146693658		TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr1:152191168C>T	ENST00000368801.2	-	3	3012	c.2937G>A	c.(2935-2937)tcG>tcA	p.S979S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	979					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCTGGAAGACGAACCTGAGC	0.577000													6	243					0	0	1	0	0
SCTR	6344	broad.mit.edu	37	2	120236398	120236398	+	Missense_Mutation	SNP	G	G	T			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr2:120236398G>T	ENST00000019103.5	-	3	557	c.290C>A	c.(289-291)aCc>aAc	p.T97N	AC013275.2_ENST00000413602.1_RNA|AC013275.2_ENST00000457436.1_RNA	NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor	97					digestion|excretion	integral to plasma membrane	secretin receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	ATTTCTGCTGGTGAGCATCCG	0.632000													8	18					0.000274275	0.000297131	1	1	0
AWAT1	158833	broad.mit.edu	37	X	69458062	69458062	+	Splice_Site	SNP	G	G	T			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chrX:69458062G>T	ENST00000374521.3	+	5	502	c.460_splice	c.e5-1	p.G154_splice		NM_001013579.2	NP_001013597.1	Q58HT5	AWAT1_HUMAN	acyl-CoA wax alcohol acyltransferase 1	154					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1)	15						TTCTCTTTAGGTGTGTGCTCT	0.512000													5	24					0.000602214	0.000643462	1	1	0
TAF3	83860	broad.mit.edu	37	10	8051082	8051082	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr10:8051082C>T	ENST00000344293.5	+	5	2563	c.2357C>T	c.(2356-2358)gCg>gTg	p.A786V		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	786	Pro-rich.				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						GCCAAGCCGGCGCCCTCGCAG	0.667000													4	35					0	0	1	0	0
PCDHA7	0	broad.mit.edu	37	5	140214233	140214233	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr5:140214233C>T	ENST00000525929.1	+	1	265	c.265C>T	c.(265-267)Cgg>Tgg	p.R89W	PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.R89W|PCDHA4_ENST00000512229.2_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTGAATTCTCGGATCGACCG	0.602000													42	159					0	0	1	0	0
FGB	2244	broad.mit.edu	37	4	155487688	155487688	+	Silent	SNP	A	A	G			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr4:155487688A>G	ENST00000302068.4	+	3	417	c.354A>G	c.(352-354)caA>caG	p.Q118Q	FGB_ENST00000502545.1_3'UTR|FGB_ENST00000509493.1_Intron	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	118					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	CTTTGCTACAACAGGAAAGGC	0.413000													8	72					0	0	1	0	0
FXR2	9513	broad.mit.edu	37	17	7504806	7504806	+	Missense_Mutation	SNP	A	A	T			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr17:7504806A>T	ENST00000250113.7	-	7	915	c.581T>A	c.(580-582)cTg>cAg	p.L194Q		NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	194						cytosolic large ribosomal subunit	protein binding|RNA binding	p.?(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		CATATCACCCAGCAGAGATGC	0.488000													12	158					0	0	1	0	0
TRAV18	0	broad.mit.edu	37	14	22471453	22471453	+	RNA	SNP	C	C	T			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr14:22471453C>T	ENST00000390446.3	+	0	109																											GCCAGCCATGCTGTCTGCTTC	0.393000													13	23					0	0	1	0	0
GARNL3	84253	broad.mit.edu	37	9	130094618	130094618	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr9:130094618G>A	ENST00000373387.4	+	8	1012	c.660G>A	c.(658-660)atG>atA	p.M220I	GARNL3_ENST00000314904.5_Missense_Mutation_p.M220I|GARNL3_ENST00000435213.2_Missense_Mutation_p.M198I	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	220	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						ATGATGAGATGTTCAGCAATG	0.453000													6	154					0	0	1	0	0
DDR1	780	broad.mit.edu	37	6	30865883	30865883	+	Silent	SNP	C	C	T			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr6:30865883C>T	ENST00000324771.8	+	18	2798	c.2250C>T	c.(2248-2250)atC>atT	p.I750I	DDR1_ENST00000376569.3_Silent_p.I713I|DDR1_ENST00000376567.2_Silent_p.I713I|DDR1_ENST00000376568.3_Silent_p.I750I|DDR1_ENST00000418800.2_Silent_p.I713I|DDR1_ENST00000454612.2_Silent_p.I713I|DDR1_ENST00000361741.4_Silent_p.I417I|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000376570.4_Silent_p.I713I|DDR1_ENST00000376575.3_Silent_p.I756I|DDR1_ENST00000452441.1_Silent_p.I750I|DDR1_ENST00000513240.1_Silent_p.I756I|DDR1_ENST00000508312.1_Silent_p.I731I			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	750	Protein kinase.				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	CAGCCCAGATCGCCTCCGGCA	0.567000													4	27					0	0	1	0	0
PCDHB2	0	broad.mit.edu	37	5	140476345	140476345	+	Silent	SNP	C	C	T			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr5:140476345C>T	ENST00000194155.4	+	1	2119	c.1971C>T	c.(1969-1971)acC>acT	p.T657T		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		657	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTCGGCCACCGCCACGCTGC	0.716000													4	73					0	0	1	0	0
OR5D14	219436	broad.mit.edu	37	11	55563038	55563038	+	Missense_Mutation	SNP	A	A	T			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr11:55563038A>T	ENST00000335605.1	+	1	7	c.7A>T	c.(7-9)Atg>Ttg	p.M3L		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	3					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				AATTATGATGATGGTTTTAAG	0.383000													4	98					0	0	1	0	0
B4GALNT1	2583	broad.mit.edu	37	12	58020596	58020596	+	Silent	SNP	G	G	A			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr12:58020596G>A	ENST00000341156.4	-	11	2117	c.1533C>T	c.(1531-1533)gaC>gaT	p.D511D	B4GALNT1_ENST00000418555.2_Silent_p.D456D	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	511					lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			TCTGGCTCTCGTCCAGTGATC	0.577000													23	77					0	0	1	0	0
FUT8	2530	broad.mit.edu	37	14	66190944	66190944	+	Missense_Mutation	SNP	G	G	C			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr14:66190944G>C	ENST00000360689.5	+	9	2889	c.1162G>C	c.(1162-1164)Gaa>Caa	p.E388Q	FUT8_ENST00000358307.2_Missense_Mutation_p.E259Q|FUT8_ENST00000417683.1_Intron|FUT8_ENST00000394585.1_Missense_Mutation_p.E388Q|FUT8_ENST00000557164.1_Missense_Mutation_p.E225Q|FUT8_ENST00000394586.2_Missense_Mutation_p.E388Q	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	388					in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		GCATGTTGAAGAACATTTTCA	0.433000													14	48					0	0	1	0	0
PRICKLE2	166336	broad.mit.edu	37	3	64138975	64138975	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr3:64138975C>T	ENST00000295902.6	-	6	1255	c.670G>A	c.(670-672)Gag>Aag	p.E224K	PRICKLE2_ENST00000564377.1_Missense_Mutation_p.E280K	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	224	LIM zinc-binding 2.					cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		GTCTCACACTCGAAGCAGCAA	0.517000													22	106					0	0	1	0	0
EPB41L3	23136	broad.mit.edu	37	18	5397070	5397070	+	Missense_Mutation	SNP	T	T	A			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr18:5397070T>A	ENST00000341928.2	-	18	3168	c.2828A>T	c.(2827-2829)aAa>aTa	p.K943I	EPB41L3_ENST00000542146.1_Missense_Mutation_p.K248I|EPB41L3_ENST00000427684.2_Missense_Mutation_p.K240I|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000342933.3_Missense_Mutation_p.K943I|EPB41L3_ENST00000544123.1_Missense_Mutation_p.K774I|EPB41L3_ENST00000400111.3_Missense_Mutation_p.K721I|EPB41L3_ENST00000540638.2_Missense_Mutation_p.K721I	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	943	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						AAAATGAGGTTTTTGTTCCAA	0.418000													13	55					0	0	1	0	0
KIAA1524	57650	broad.mit.edu	37	3	108287155	108287155	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr3:108287155T>C	ENST00000295746.8	-	10	1196	c.1120A>G	c.(1120-1122)Ata>Gta	p.I374V	KIAA1524_ENST00000491772.1_Missense_Mutation_p.I215V|KIAA1524_ENST00000487834.1_5'UTR	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	374						cytoplasm|integral to membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GCAGCATCTATGACATCCTGG	0.373000													9	18					0	0	1	0	0
CD1D	912	broad.mit.edu	37	1	158152720	158152720	+	Silent	SNP	G	G	A			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr1:158152720G>A	ENST00000368171.3	+	5	1159	c.660G>A	c.(658-660)ctG>ctA	p.L220L		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	220	Ig-like.				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					CTGGCCGTCTGCTGCTGGTGT	0.597000													4	75					0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	95993938	95993938	+	Missense_Mutation	SNP	C	C	G			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr10:95993938C>G	ENST00000260766.3	+	6	2717	c.2083C>G	c.(2083-2085)Ctg>Gtg	p.L695V	PLCE1_ENST00000371385.3_Missense_Mutation_p.L387V|PLCE1_ENST00000371380.2_Missense_Mutation_p.L695V|PLCE1_ENST00000371375.1_Missense_Mutation_p.L387V	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	695	Ras-GEF.				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GACACGTGCCCTGCACATCCC	0.542000													4	73					0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48265275	48265275	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr17:48265275G>A	ENST00000225964.5	-	45	3449	c.3331C>T	c.(3331-3333)Cgt>Tgt	p.R1111C		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	1111	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	GAGAAGCCACGGTGACCCTTT	0.622000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						6	128					0	0	1	0	0
C8B	732	broad.mit.edu	37	1	57406545	57406548	+	Frame_Shift_Del	DEL	TGTA	TGTA	-			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr1:57406545_57406548delTGTA	ENST00000543257.1	-	10	1782_1785	c.1216_1219delTACA	c.(1216-1221)acfs	p.YN406fs	C8B_ENST00000535057.1_Frame_Shift_Del_p.YN396fs|C8B_ENST00000371237.4_Frame_Shift_Del_p.YN458fs	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	458	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						ATGGCTGGGTTGTACTGCACAGCG	0.559													18	61	---	---	---	---					
PKD2	5311	broad.mit.edu	37	4	88986559	88986559	+	Frame_Shift_Del	DEL	A	A	-			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr4:88986559delA	ENST00000237596.2	+	11	2218	c.2152delA	c.(2152-2154)aafs	p.K719fs	PKD2_ENST00000502363.1_Frame_Shift_Del_p.K137fs|PKD2_ENST00000508588.1_Frame_Shift_Del_p.K137fs|PKD2_ENST00000511337.1_3'UTR	NM_000297.3	NP_000288.1	Q13563	PKD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	719	EF-hand domain.					basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		ACTAAAACTGAAAAAAAATAC	0.383													9	97	---	---	---	---					
DND1	373863	broad.mit.edu	37	5	140052285	140052285	+	Frame_Shift_Del	DEL	T	T	-			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr5:140052285delT	ENST00000542735.1	-	3	392	c.349delA	c.(349-351)cgfs	p.T117fs		NM_194249.2	NP_919225.1	Q8IYX4	DND1_HUMAN	DND microRNA-mediated repression inhibitor 1	117	RRM 1.				multicellular organismal development|negative regulation of gene silencing by miRNA	cytoplasm|nucleus	AU-rich element binding|nucleotide binding	p.T117fs*24(1)		central_nervous_system(1)|prostate(4)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGTGCAGCGTGGCGATGGCG	0.682													5	10	---	---	---	---					
ATP10B	23120	broad.mit.edu	37	5	160047362	160047362	+	Frame_Shift_Del	DEL	G	G	-			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr5:160047362delG	ENST00000327245.5	-	15	3254	c.2408delC	c.(2407-2409)cafs	p.P803fs	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	803					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACCGCAGGCTGGGTCTTCCAG	0.507													8	43	---	---	---	---					
DSP	1832	broad.mit.edu	37	6	7583265	7583266	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr6:7583265_7583266delAC	ENST00000379802.3	+	24	6111_6112	c.5770_5771delAC	c.(5770-5772)afs	p.T1924fs	DSP_ENST00000418664.2_Frame_Shift_Del_p.T1325fs	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1924	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TACCAGGGAGACACAGTCACAG	0.490													9	67	---	---	---	---					
RP11-586K2.1	0	broad.mit.edu	37	8	89498121	89498122	+	RNA	INS	-	-	A			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr8:89498121_89498122insA	ENST00000521433.1	+	0	179				RP11-586K2.1_ENST00000523254.1_RNA																							gaacagctatgaaaaaaaaaac	0.386													3	6	---	---	---	---					
BRCA2	675	broad.mit.edu	37	13	32903584	32903584	+	Frame_Shift_Del	DEL	A	A	-			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr13:32903584delA	ENST00000544455.1	+	8	863	c.636delA	c.(634-636)agfs	p.R212fs	BRCA2_ENST00000380152.3_Frame_Shift_Del_p.R212fs	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	212					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TTACAGTCAGAAATGAAGAAG	0.284			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			12	40	---	---	---	---					
NCOA6	23054	broad.mit.edu	37	20	33337295	33337304	+	Frame_Shift_Del	DEL	CCCAAAATGG	CCCAAAATGG	-			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr20:33337295_33337304delCCCAAAATGG	ENST00000374796.2	-	10	5264_5273	c.2694_2703delCCATTTTGGG	c.(2692-2703)ggfs	p.GHFG898fs	NCOA6_ENST00000359003.2_Frame_Shift_Del_p.GHFG898fs			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	898	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|NCOA6IP-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						TATTGTTTACCCCAAAATGGCCTGCAGATA	0.419													7	125	---	---	---	---					
KLHDC7B	113730	broad.mit.edu	37	22	50988343	50988344	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chr22:50988343_50988344delCT	ENST00000395676.2	+	1	1882_1883	c.1748_1749delCT	c.(1747-1749)afs	p.T583fs		NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	583										central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TTCATCCTGACTCTGCCCCCTG	0.649													5	7	---	---	---	---					
GLRA2	2742	broad.mit.edu	37	X	14599376	14599383	+	Frame_Shift_Del	DEL	TGACTCCC	TGACTCCC	-			TCGA-V1-A9OH-01A-11D-A41K-08	TCGA-V1-A9OH-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	447d759f-3770-49ac-8ff4-80ede8b435cd	ea11e1b5-ed5c-47f0-a320-9b8bffa66a4d	g.chrX:14599376_14599383delTGACTCCC	ENST00000218075.4	+	4	872_879	c.342_349delTGACTCCC	c.(340-351)gatgfs	p.DDSL114fs	GLRA2_ENST00000355020.4_Frame_Shift_Del_p.DDSL114fs|GLRA2_ENST00000443437.2_Frame_Shift_Del_p.DDSL25fs	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	114					neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	AGTACCCAGATGACTCCCTGGACTTGGA	0.471													18	40	---	---	---	---