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
SLC36A1	206358	broad.mit.edu	37	5	150856278	150856278	+	Missense_Mutation	SNP	A	A	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr5:150856278A>T	ENST00000243389.3	+	9	1173	c.950A>T	c.(949-951)aAt>aTt	p.N317I	SLC36A1_ENST00000521925.1_Missense_Mutation_p.N317I|SLC36A1_ENST00000520701.1_Missense_Mutation_p.N317I	NM_078483.2	NP_510968.2	Q7Z2H8	S36A1_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 1	317					cellular nitrogen compound metabolic process|ion transport	endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	p.N317I(1)		endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glycine(DB00145)|L-Alanine(DB00160)	TTTGGAGCTAATATCCAAGGC	0.512000													24	11					0	0	0.108266	0	0
LEF1	51176	broad.mit.edu	37	4	109002741	109002741	+	Splice_Site	SNP	C	C	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr4:109002741C>A	ENST00000265165.1	-	6	1377		c.e6+1		LEF1_ENST00000510624.1_Intron|LEF1_ENST00000438313.2_Intron|LEF1_ENST00000379951.2_Intron	NM_016269.4	NP_057353.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1						canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation	cytoplasm|protein-DNA complex|transcription factor complex	armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding	p.?(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		CCTCCACCTACCTGGACATGG	0.562000													8	7					2.80697e-09	3.37441e-09	0.080935	1	0
CYP4F3	4051	broad.mit.edu	37	19	15760829	15760829	+	Missense_Mutation	SNP	G	G	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr19:15760829G>T	ENST00000221307.7	+	7	802	c.754G>T	c.(754-756)Gat>Tat	p.D252Y	CYP4F3_ENST00000592424.1_3'UTR|CYP4F3_ENST00000591058.1_Missense_Mutation_p.D252Y|CYP4F3_ENST00000585846.1_Missense_Mutation_p.D252Y|CYP4F3_ENST00000586182.1_Missense_Mutation_p.D252Y	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	252					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding	p.D252Y(1)		endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						TCTCACCCCTGATGGGCAGCG	0.567000													62	41					6.75472e-32	1.02051e-31	0.139131	1	0
PGC	5225	broad.mit.edu	37	6	41708341	41708341	+	Missense_Mutation	SNP	C	C	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr6:41708341C>A	ENST00000373025.3	-	6	717	c.655G>T	c.(655-657)Ggc>Tgc	p.G219C		NM_002630.3	NP_002621.1	P20142	PEPC_HUMAN	progastricsin (pepsinogen C)	219					digestion|proteolysis	extracellular space	aspartic-type endopeptidase activity	p.G219C(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			CCGCTGGAGCCCTGCTGGCTG	0.592000													52	56					2.14255e-21	3.10281e-21	0.139131	1	0
SOX5	6660	broad.mit.edu	37	12	23716278	23716278	+	Nonsense_Mutation	SNP	C	C	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr12:23716278C>A	ENST00000546136.1	-	10	1365	c.1363G>T	c.(1363-1365)Gag>Tag	p.E455*	SOX5_ENST00000396007.2_Nonsense_Mutation_p.E82*|SOX5_ENST00000381381.2_Intron|SOX5_ENST00000451604.2_Nonsense_Mutation_p.E468*|SOX5_ENST00000541536.1_Intron|SOX5_ENST00000309359.1_Nonsense_Mutation_p.E455*|SOX5_ENST00000545921.1_Nonsense_Mutation_p.E458*|SOX5_ENST00000537393.1_Nonsense_Mutation_p.E433*			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	468					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.E468*(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						CGGAGTTGCTCCTTCATTTGC	0.433000													11	83					2.80697e-09	3.37441e-09	0.080935	1	0
LRFN2	57497	broad.mit.edu	37	6	40399544	40399544	+	Silent	SNP	G	G	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr6:40399544G>A	ENST00000338305.6	-	2	1851	c.1309C>T	c.(1309-1311)Ctg>Ttg	p.L437L		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	437	Fibronectin type-III.					cell junction|integral to membrane|postsynaptic membrane		p.L437L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					CACTTGACCAGGGCCGAGGTG	0.602000													12	58					0	0	0.093190	0	0
ITGAX	3687	broad.mit.edu	37	16	31371771	31371771	+	Missense_Mutation	SNP	G	G	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr16:31371771G>A	ENST00000268296.4	+	8	969	c.848G>A	c.(847-849)cGc>cAc	p.R283H	ITGAX_ENST00000562522.1_Missense_Mutation_p.R283H	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	283	VWFA.				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	p.R283H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GGCATCATCCGCTATGCAATT	0.517000													20	67					0	0	0.062417	0	0
KDM6A	7403	broad.mit.edu	37	X	44949010	44949010	+	Missense_Mutation	SNP	G	G	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chrX:44949010G>T	ENST00000377967.4	+	25	3612	c.3571G>T	c.(3571-3573)Ggt>Tgt	p.G1191C	KDM6A_ENST00000543216.1_Missense_Mutation_p.G1112C|KDM6A_ENST00000382899.4_Missense_Mutation_p.G1198C|KDM6A_ENST00000536777.1_Missense_Mutation_p.G1146C	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1191	JmjC.				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)|p.G1191C(1)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TTTCCTAATGGGTTCTTGGTG	0.358000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								9	7					1.76689e-08	2.07935e-08	0.058154	1	0
PRKD3	23683	broad.mit.edu	37	2	37513418	37513418	+	Missense_Mutation	SNP	G	G	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr2:37513418G>T	ENST00000379066.1	-	6	1574	c.812C>A	c.(811-813)cCa>cAa	p.P271Q	PRKD3_ENST00000234179.2_Missense_Mutation_p.P271Q			O94806	KPCD3_HUMAN	protein kinase D3	271					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity	p.P271Q(2)		breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				AAATGTGTGTGGAACTTTCAC	0.463000													8	30					0.00307968	0.00319989	0.038147	1	0
OR56B1	387748	broad.mit.edu	37	11	5757979	5757979	+	Missense_Mutation	SNP	T	T	C			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr11:5757979T>C	ENST00000317121.3	+	1	299	c.233T>C	c.(232-234)gTa>gCa	p.V78A	TRIM5_ENST00000380027.1_Intron	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B, member 1	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V78A(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		CTCTGTATGGTAGACATGGGT	0.473000													20	13					0	0	0.055883	0	0
TPH2	121278	broad.mit.edu	37	12	72338118	72338118	+	Silent	SNP	G	G	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr12:72338118G>T	ENST00000333850.3	+	3	441	c.300G>T	c.(298-300)cgG>cgT	p.R100R	TPH2_ENST00000546576.1_3'UTR	NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	100	ACT.				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	p.R100R(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	GGAAATCTCGGCGAAGAAGTT	0.403000													33	32					6.00712e-18	8.45839e-18	0.163468	1	0
RECQL4	9401	broad.mit.edu	37	8	145742150	145742150	+	Splice_Site	SNP	T	T	G			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr8:145742150T>G	ENST00000428558.2	-	5	396		c.e5-2		RECQL4_ENST00000532237.1_Splice_Site	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	RecQ protein-like 4						DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding	p.?(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TGGTCCGGCCTGGGAGGGGAA	0.597000			"""N, F, S"""			"""osteosarcoma, skin basal and sqamous cell"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome				8	39					0	0	0.080935	0	0
ZNF624	57547	broad.mit.edu	37	17	16525829	16525829	+	Missense_Mutation	SNP	T	T	C			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr17:16525829T>C	ENST00000311331.7	-	6	2462	c.2371A>G	c.(2371-2373)Act>Gct	p.T791A		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	791					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T791A(1)		breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TGTGATAGAGTAATACAACCC	0.433000													32	14					0	0	0.153744	0	0
PZP	5858	broad.mit.edu	37	12	9305864	9305864	+	Missense_Mutation	SNP	C	C	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr12:9305864C>A	ENST00000261336.2	-	30	3878	c.3850G>T	c.(3850-3852)Gtc>Ttc	p.V1284F	PZP_ENST00000381997.2_Missense_Mutation_p.V1070F	NM_002864.2	NP_002855.2			pregnancy-zone protein									p.V1284I(1)|p.V1070I(1)|p.V1070F(1)|p.V1284F(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						TGAACGGTGACCTGTGCAGTT	0.507000													12	64					0.000978159	0.00103168	0.080935	1	0
HLA-DOA	3111	broad.mit.edu	37	6	32976019	32976019	+	Nonsense_Mutation	SNP	G	G	T	rs41555920		TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr6:32976019G>T	ENST00000229829.5	-	2	177	c.102C>A	c.(100-102)taC>taA	p.Y34*	HLA-DOA_ENST00000450833.2_Nonsense_Mutation_p.Y4*	NM_002119.3	NP_002110.1	P06340	DOA_HUMAN	major histocompatibility complex, class II, DO alpha	34	Alpha-1.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity	p.Y34*(1)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						AGGCGGGTCCGTAGGAGCCCA	0.522000													19	25					4.35082e-09	5.21911e-09	0.055883	1	0
ENPP7	339221	broad.mit.edu	37	17	77705081	77705081	+	Silent	SNP	C	C	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr17:77705081C>T	ENST00000328313.5	+	1	401	c.180C>T	c.(178-180)gaC>gaT	p.D60D		NM_178543.3	NP_848638.2	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 7	60					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity	p.D60D(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TGGCCCGAGACGGGGTGAAGG	0.642000													5	21					0	0	0.029380	0	0
SPACA3	124912	broad.mit.edu	37	17	31323984	31323984	+	Missense_Mutation	SNP	C	C	T	rs143361724	byFrequency	TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr17:31323984C>T	ENST00000580599.1	+	4	669	c.260C>T	c.(259-261)cCg>cTg	p.P87L	SPACA3_ENST00000394637.2_3'UTR|SPACA3_ENST00000394638.1_Missense_Mutation_p.P53L|SPACA3_ENST00000269053.3_Missense_Mutation_p.P156L			Q8IXA5	SACA3_HUMAN	sperm acrosome associated 3	156		Cleavage; to produce processed form (Probable).			cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus	acrosomal membrane|extracellular region|integral to membrane|lysosome	bacterial cell surface binding|lysozyme activity|protein binding	p.P156L(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(9;0.193)			AACCTCACCCCGAACGTCCCC	0.597000													20	45					0	0	0.069288	0	0
DMXL2	23312	broad.mit.edu	37	15	51741321	51741321	+	Nonsense_Mutation	SNP	G	G	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr15:51741321G>A	ENST00000251076.5	-	43	9258	c.8971C>T	c.(8971-8973)Cga>Tga	p.R2991*	DMXL2_ENST00000543779.2_Nonsense_Mutation_p.R2992*|DMXL2_ENST00000449909.3_Nonsense_Mutation_p.R2355*|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2991						cell junction|synaptic vesicle membrane	Rab GTPase binding	p.R2991*(2)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		CCAATGTTTCGAAATATGGAC	0.438000													10	28					0	0	0.069234	0	0
PREX1	57580	broad.mit.edu	37	20	47361594	47361594	+	Missense_Mutation	SNP	G	G	C			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr20:47361594G>C	ENST00000396220.1	-	3	404	c.382C>G	c.(382-384)Cag>Gag	p.Q128E	PREX1_ENST00000371941.3_Missense_Mutation_p.Q128E			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	128	DH.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.Q128E(2)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			AGTTCATGCTGAGACTGCGGC	0.493000													34	141					0	0	0.153744	0	0
FAP	2191	broad.mit.edu	37	2	163075642	163075642	+	Missense_Mutation	SNP	G	G	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr2:163075642G>T	ENST00000188790.4	-	8	745	c.538C>A	c.(538-540)Cct>Act	p.P180T	FAP_ENST00000443424.1_Missense_Mutation_p.P155T	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha	180					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity	p.P180T(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						ATTTGAAAAGGTGGATCTCCT	0.338000													32	35					2.46105e-21	3.55485e-21	0.153744	1	0
ANO5	203859	broad.mit.edu	37	11	22281220	22281220	+	Silent	SNP	G	G	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr11:22281220G>A	ENST00000324559.8	+	15	1880	c.1563G>A	c.(1561-1563)ttG>ttA	p.L521L		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	521						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	p.L521L(1)		breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GATCATGCTTGAACTTTATTG	0.373000													27	12					0	0	0.134883	0	0
OR9G4	283189	broad.mit.edu	37	11	56510794	56510794	+	Missense_Mutation	SNP	A	A	G			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr11:56510794A>G	ENST00000302957.3	-	1	493	c.494T>C	c.(493-495)aTa>aCa	p.I165T		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I165T(1)		NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						AAATCCTCCTATGTAGGAGCC	0.463000													28	21					0	0	0.116897	0	0
FCRL2	79368	broad.mit.edu	37	1	157739907	157739907	+	Missense_Mutation	SNP	G	G	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr1:157739907G>T	ENST00000361516.3	-	4	392	c.344C>A	c.(343-345)tCc>tAc	p.S115Y	FCRL2_ENST00000392274.3_Missense_Mutation_p.S115Y|FCRL2_ENST00000368181.4_Intron	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	115	Ig-like C2-type 2.				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity	p.S115Y(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GGGCTGGAAGGAGCTGGCAGT	0.522000													12	26					2.27111e-07	2.60688e-07	0.093190	1	0
PCDHGA8	9708	broad.mit.edu	37	5	140774305	140774305	+	Missense_Mutation	SNP	T	T	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr5:140774305T>A	ENST00000398604.2	+	1	1925	c.1925T>A	c.(1924-1926)cTc>cAc	p.L642H	PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_032088.1	NP_114477.1												p.L642H(1)		endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGCAGAGCCTCGTGGTGGCC	0.677000													4	32					0	0	0.021553	0	0
SRPK1	6732	broad.mit.edu	37	6	35842080	35842080	+	Missense_Mutation	SNP	A	A	C			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr6:35842080A>C	ENST00000373825.2	-	7	800	c.515T>G	c.(514-516)cTg>cGg	p.L172R	SRPK1_ENST00000423325.2_Missense_Mutation_p.L156R|SRPK1_ENST00000373822.1_Missense_Mutation_p.L65R|SRPK1_ENST00000373821.2_5'UTR			Q96SB4	SRPK1_HUMAN	SRSF protein kinase 1	172	Protein kinase.				cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing|RNA splicing	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	p.L172R(1)		endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						CCACTTGAGCAGATGATGCCC	0.393000													4	14					0	0	0.150653	0	0
OR10R2	343406	broad.mit.edu	37	1	158450117	158450117	+	Silent	SNP	G	G	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr1:158450117G>T	ENST00000368152.1	+	1	450	c.450G>T	c.(448-450)ctG>ctT	p.L150L	RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L150L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					GTCACCCTCTGCATTACCCCA	0.468000													51	140					2.12129e-23	3.09608e-23	0.139131	1	0
CTSC	1075	broad.mit.edu	37	11	88059549	88059549	+	Missense_Mutation	SNP	C	C	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr11:88059549C>T	ENST00000529974.1	-	4	482	c.422G>A	c.(421-423)gGc>gAc	p.G141D	CTSC_ENST00000227266.5_Intron|CTSC_ENST00000393301.4_5'UTR|CTSC_ENST00000524463.1_3'UTR			P53634	CATC_HUMAN	cathepsin C	0					immune response	lysosome	cysteine-type endopeptidase activity	p.G141D(1)		large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2)	22		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TGTCTCTTAGCCCCAACGTCT	0.458000													25	10					0	0	0.091800	0	0
STIM2	57620	broad.mit.edu	37	4	27010119	27010119	+	Missense_Mutation	SNP	G	G	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr4:27010119G>T	ENST00000382009.3	+	10	1771	c.1504G>T	c.(1504-1506)Gat>Tat	p.D502Y	STIM2_ENST00000412829.2_Missense_Mutation_p.D494Y|STIM2_ENST00000237364.5_Missense_Mutation_p.D494Y|STIM2_ENST00000467011.1_Missense_Mutation_p.D407Y|STIM2_ENST00000465503.1_Missense_Mutation_p.D415Y|STIM2_ENST00000467087.1_Missense_Mutation_p.D407Y	NM_001169118.1	NP_001162589.1	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	407					activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding	p.D494Y(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				CTCCTCCCTAGATGAGGTAGA	0.353000													9	8					5.16669e-11	6.65479e-11	0.080935	1	0
MYOM2	9172	broad.mit.edu	37	8	2017597	2017597	+	Silent	SNP	G	G	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr8:2017597G>T	ENST00000262113.4	+	8	915	c.774G>T	c.(772-774)tcG>tcT	p.S258S	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	258					muscle contraction	myosin filament	structural constituent of muscle	p.S258S(1)		autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CATTCCGTTCGGTGGGACTCC	0.493000													28	87					7.16026e-08	8.32138e-08	0.163468	1	0
OPTC	26254	broad.mit.edu	37	1	203467947	203467947	+	Missense_Mutation	SNP	C	C	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr1:203467947C>A	ENST00000367222.2	+	4	625	c.509C>A	c.(508-510)gCc>gAc	p.A170D		NM_014359.3	NP_055174.1	Q9UBM4	OPT_HUMAN	opticin	170						proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	p.A170D(1)		breast(1)|cervix(1)|kidney(5)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.109)			CGTATCAGGGCCGAAGACTTC	0.542000													19	19					6.94344e-10	8.58713e-10	0.175082	1	0
ZNF142	7701	broad.mit.edu	37	2	219507623	219507623	+	Missense_Mutation	SNP	C	C	G			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr2:219507623C>G	ENST00000411696.2	-	7	4395	c.3616G>C	c.(3616-3618)Gac>Cac	p.D1206H	ZNF142_ENST00000449707.1_Missense_Mutation_p.D1206H			P52746	ZN142_HUMAN	zinc finger protein 142	1206					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D1043H(1)|p.D1206H(1)		breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GTCGAAAAGTCACAGAAGGGG	0.612000													5	80					0	0	0.184627	0	0
LDLR	3949	broad.mit.edu	37	19	11200279	11200279	+	Missense_Mutation	SNP	G	G	C			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr19:11200279G>C	ENST00000558518.1	+	1	242	c.55G>C	c.(55-57)Gcg>Ccg	p.A19P	LDLR_ENST00000558013.1_Missense_Mutation_p.A19P|LDLR_ENST00000455727.2_Missense_Mutation_p.A19P|LDLR_ENST00000545707.1_Missense_Mutation_p.A19P|LDLR_ENST00000557933.1_Missense_Mutation_p.A19P|LDLR_ENST00000535915.1_Missense_Mutation_p.A19P	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	19					cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	p.A19P(1)|p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	CCTCGCCGCGGCGGGGACTGC	0.627000													3	6					0	0	0.115264	0	0
CAPN11	11131	broad.mit.edu	37	6	44150872	44150872	+	Missense_Mutation	SNP	C	C	G			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr6:44150872C>G	ENST00000398776.1	+	21	2072	c.2034C>G	c.(2032-2034)aaC>aaG	p.N678K	CAPN11_ENST00000542245.1_Missense_Mutation_p.N678K	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	678	Domain IV.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	p.N678K(1)		breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AGCTGAACAACAAGGTAATGC	0.532000													25	59					0	0	0.108266	0	0
FAM120A	23196	broad.mit.edu	37	9	96324522	96324522	+	Missense_Mutation	SNP	T	T	G			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr9:96324522T>G	ENST00000277165.6	+	17	3175	c.2981T>G	c.(2980-2982)aTt>aGt	p.I994S	FAM120A_ENST00000340893.4_Missense_Mutation_p.I948S|FAM120A_ENST00000333936.5_Missense_Mutation_p.I1022S	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	994	RNA binding.					cytoplasm|plasma membrane	RNA binding	p.I994S(1)		endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						ACCCCAGTGATTAGAACATTT	0.383000													10	7					0	0	0.119110	0	0
TBC1D10B	26000	broad.mit.edu	37	16	30376830	30376830	+	Missense_Mutation	SNP	G	G	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr16:30376830G>A	ENST00000409939.3	-	2	1122	c.1042C>T	c.(1042-1044)Cgg>Tgg	p.R348W		NM_015527.3	NP_056342.3	Q4KMP7	TB10B_HUMAN	TBC1 domain family, member 10B	348						cytoplasm	Rab GTPase activator activity	p.R73W(1)|p.R348W(1)		endometrium(2)|kidney(1)|lung(2)|urinary_tract(1)	6			Colorectal(24;0.193)			TGGAATCGCCGTGACAGCCAC	0.582000													12	88					0	0	0.080935	0	0
FAM66D	100132923	broad.mit.edu	37	8	11986016	11986016	+	RNA	SNP	C	C	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr8:11986016C>A	ENST00000434078.2	+	0	608					NR_027425.1																						AACGTCTTGGCGGCAGGCGCC	0.478000													6	71					3.59834e-05	3.92865e-05	0.021553	1	0
CYP26B1	56603	broad.mit.edu	37	2	72360229	72360229	+	Missense_Mutation	SNP	C	C	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr2:72360229C>T	ENST00000001146.2	-	5	1272	c.1069G>A	c.(1069-1071)Gtc>Atc	p.V357I	CYP26B1_ENST00000412253.1_Missense_Mutation_p.V166I|CYP26B1_ENST00000546307.1_Missense_Mutation_p.V282I	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	357					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding	p.V357I(1)		breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						TCCTTGATGACGCAGTCCAGG	0.662000													7	34					0	0	0.029380	0	0
COL4A4	1286	broad.mit.edu	37	2	227924926	227924926	+	Missense_Mutation	SNP	G	G	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr2:227924926G>T	ENST00000396625.3	-	27	2297	c.2090C>A	c.(2089-2091)cCt>cAt	p.P697H	COL4A4_ENST00000329662.7_Missense_Mutation_p.P697H	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	697	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	p.P697H(1)		breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		ACTCAGCCCAGGGGCACCTTG	0.428000													37	62					2.05212e-20	2.92636e-20	0.080422	1	0
C10orf12	26148	broad.mit.edu	37	10	98744545	98744545	+	Missense_Mutation	SNP	G	G	C			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr10:98744545G>C	ENST00000286067.2	+	1	3505	c.3398G>C	c.(3397-3399)aGc>aCc	p.S1133T		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	1133								p.S1133T(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		AGGGACAGAAGCAGCCAACCC	0.512000													9	6					0	0	0.069234	0	0
CHN1	1123	broad.mit.edu	37	2	175742647	175742647	+	Missense_Mutation	SNP	T	T	C			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr2:175742647T>C	ENST00000409900.3	-	6	783	c.470A>G	c.(469-471)tAc>tGc	p.Y157C	CHN1_ENST00000488080.1_Intron|CHN1_ENST00000409156.3_Missense_Mutation_p.Y157C	NM_001822.5	NP_001813.1	P15882	CHIN_HUMAN	chimerin 1	157					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	p.Y157C(1)		NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.226)			ATGTTTTTTGTATGCTGGCTC	0.423000			T	TAF15	extraskeletal myxoid chondrosarcoma								45	55					0	0	0.139131	0	0
FAM83B	222584	broad.mit.edu	37	6	54735153	54735153	+	Missense_Mutation	SNP	G	G	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr6:54735153G>A	ENST00000306858.7	+	2	225	c.109G>A	c.(109-111)Gaa>Aaa	p.E37K		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	37								p.E37K(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TATTCTGATTGAACACGGGTT	0.368000													70	54					0	0	0.139131	0	0
SPOP	8405	broad.mit.edu	37	17	47696725	47696725	+	Missense_Mutation	SNP	C	C	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr17:47696725C>A	ENST00000393331.3	-	6	693	c.223G>T	c.(223-225)Ggg>Tgg	p.G75W	SPOP_ENST00000393328.2_Missense_Mutation_p.G75W|SPOP_ENST00000503676.1_Missense_Mutation_p.G75W|SPOP_ENST00000504102.1_Missense_Mutation_p.G75W|SPOP_ENST00000513080.1_5'UTR|SPOP_ENST00000347630.2_Missense_Mutation_p.G75W	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	75	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding	p.G75R(1)|p.G75L(1)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						TCATCTAACCCTTTGGGGTTT	0.393000										Prostate(2;0.17)			10	26					7.48243e-07	8.43282e-07	0.058154	1	0
BDP1	55814	broad.mit.edu	37	5	70813227	70813227	+	Missense_Mutation	SNP	C	C	G			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr5:70813227C>G	ENST00000358731.4	+	22	5202	c.4939C>G	c.(4939-4941)Cag>Gag	p.Q1647E	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1647					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	p.Q1647E(1)		NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AAATCAAAGTCAGGTGGTTCT	0.308000													36	16					0	0	0.086207	0	0
RYR2	6262	broad.mit.edu	37	1	237972319	237972319	+	Missense_Mutation	SNP	G	G	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr1:237972319G>A	ENST00000366574.2	+	100	14734	c.14417G>A	c.(14416-14418)tGt>tAt	p.C4806Y	RYR2_ENST00000542537.1_Missense_Mutation_p.C4790Y|RYR2_ENST00000360064.6_Missense_Mutation_p.C4812Y	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4806					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.C4804Y(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GATATGAAATGTGACGATATG	0.328000													27	119					0	0	0.099896	0	0
MDN1	23195	broad.mit.edu	37	6	90402561	90402561	+	Silent	SNP	G	G	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr6:90402561G>A	ENST00000369393.3	-	63	10303	c.10188C>T	c.(10186-10188)gcC>gcT	p.A3396A	MDN1_ENST00000428876.1_Silent_p.A3396A			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3396					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	p.A3396A(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GTGGGCTCACGGCATCTGGAT	0.562000													21	16					0	0	0.062417	0	0
RNF213	57674	broad.mit.edu	37	17	78293272	78293272	+	Missense_Mutation	SNP	G	G	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr17:78293272G>A	ENST00000319921.4	+	17	3325	c.3184G>A	c.(3184-3186)Gaa>Aaa	p.E1062K	RNF213_ENST00000582970.1_Intron|RNF213_ENST00000456466.1_Intron|RNF213_ENST00000508628.2_Intron	NM_020954.3	NP_066005.2	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0								p.E1062K(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CAATGGCGCTGAAATCTAGTT	0.592000													9	30					0	0	0.058154	0	0
SALL1	6299	broad.mit.edu	37	16	51174340	51174340	+	Missense_Mutation	SNP	G	G	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr16:51174340G>T	ENST00000440970.1	-	2	1933	c.1502C>A	c.(1501-1503)cCt>cAt	p.P501H	SALL1_ENST00000251020.4_Missense_Mutation_p.P598H|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	598					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P598H(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GGCTGACTCAGGGCCCCCGGA	0.607000													15	21					6.31663e-08	7.35624e-08	0.132662	1	0
MGA	23269	broad.mit.edu	37	15	42041756	42041756	+	Missense_Mutation	SNP	T	T	G			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr15:42041756T>G	ENST00000219905.7	+	17	6132	c.5951T>G	c.(5950-5952)aTa>aGa	p.I1984R	MGA_ENST00000570161.1_Missense_Mutation_p.I1984R|MGA_ENST00000389936.4_Missense_Mutation_p.I1945R|MGA_ENST00000545763.1_Missense_Mutation_p.I1775R|MGA_ENST00000566586.1_Missense_Mutation_p.I1775R	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	1945						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.I2033R(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		ACAAACTCAATAAAAAGAGAG	0.428000													6	10					0	0	0.021553	0	0
SCN9A	6335	broad.mit.edu	37	2	167145088	167145088	+	Silent	SNP	A	A	G			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr2:167145088A>G	ENST00000375387.4	-	10	1516	c.1176T>C	c.(1174-1176)ttT>ttC	p.F392F	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Silent_p.F392F|SCN9A_ENST00000409672.1_Silent_p.F391F|SCN9A_ENST00000409435.1_Silent_p.F391F			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	391						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.F391F(1)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TTATTAGATAAAAGGAGCCCA	0.393000													21	30					0	0	0.055883	0	0
PSMD12	5718	broad.mit.edu	37	17	65362551	65362551	+	Missense_Mutation	SNP	G	G	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr17:65362551G>T	ENST00000356126.3	-	1	192	c.85C>A	c.(85-87)Ccc>Acc	p.P29T	PSMD12_ENST00000357146.4_Missense_Mutation_p.P29T|PSMD12_ENST00000581618.1_5'UTR	NM_002816.3	NP_002807.1	O00232	PSD12_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 12	29					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	protein binding	p.P29T(1)		breast(1)|large_intestine(4)|lung(6)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13)					GCACACTCGGGTAGGCGCTGA	0.706000													4	12					0.00909568	0.00939831	0.150653	1	0
CCDC80	151887	broad.mit.edu	37	3	112356904	112356904	+	Missense_Mutation	SNP	C	C	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr3:112356904C>A	ENST00000206423.3	-	2	2802	c.1849G>T	c.(1849-1851)Ggg>Tgg	p.G617W	CCDC80_ENST00000439685.2_Missense_Mutation_p.G617W	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	617								p.G617W(1)		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						TCAAAGGACCCCAGCAGGTCG	0.478000													85	127					4.35598e-54	6.67121e-54	0.139131	1	0
CPXM2	119587	broad.mit.edu	37	10	125521440	125521440	+	Missense_Mutation	SNP	G	G	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr10:125521440G>T	ENST00000241305.3	-	11	1879	c.1725C>A	c.(1723-1725)ttC>ttA	p.F575L	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	575					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	p.F575L(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CCTCCTTCTGGAAGTCCTCCG	0.667000													22	6					6.44725e-10	8.00892e-10	0.069288	1	0
DNAH8	1769	broad.mit.edu	37	6	38758183	38758183	+	Splice_Site	SNP	T	T	C			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr6:38758183T>C	ENST00000359357.3	+	18	2384		c.e18+2		DNAH8_ENST00000449981.2_Splice_Site|DNAH8_ENST00000441566.1_Splice_Site					dynein, axonemal, heavy chain 8									p.?(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTAAAGAAGGTATGATCTATA	0.299000													7	28					0	0	0.029380	0	0
WAPAL	23063	broad.mit.edu	37	10	88277334	88277334	+	Missense_Mutation	SNP	T	T	G			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr10:88277334T>G	ENST00000298767.5	-	2	965	c.493A>C	c.(493-495)Act>Cct	p.T165P		NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	165	Mediates interaction with the cohesin complex.				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding	p.T165P(1)		breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						TTACCTGAAGTTATTAATTTA	0.308000													14	37					0	0	0.132662	0	0
CA13	377677	broad.mit.edu	37	8	86163066	86163066	+	Silent	SNP	C	C	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr8:86163066C>T	ENST00000321764.3	+	2	437	c.135C>T	c.(133-135)ctC>ctT	p.L45L	CA13_ENST00000517298.1_3'UTR	NM_198584.2	NP_940986.1	Q8N1Q1	CAH13_HUMAN	carbonic anhydrase XIII	45					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding	p.L45L(1)		large_intestine(1)|lung(6)	7						ACTCTTCCCTCCGACCACTTA	0.408000													60	111					0	0	0.139131	0	0
TGM6	343641	broad.mit.edu	37	20	2411636	2411636	+	Missense_Mutation	SNP	G	G	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr20:2411636G>A	ENST00000202625.2	+	12	1991	c.1930G>A	c.(1930-1932)Gag>Aag	p.E644K	TGM6_ENST00000381423.1_Intron	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	644					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.E644K(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	GCTGATGGTGGAGGGCAGCGG	0.592000													41	65					0	0	0.139131	0	0
SOX6	55553	broad.mit.edu	37	11	16340103	16340103	+	Missense_Mutation	SNP	T	T	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr11:16340103T>A	ENST00000352083.6	-	3	411	c.334A>T	c.(334-336)Atg>Ttg	p.M112L	SOX6_ENST00000316399.6_Missense_Mutation_p.M112L|SOX6_ENST00000528429.1_Missense_Mutation_p.M112L|SOX6_ENST00000527619.1_Missense_Mutation_p.M115L|SOX6_ENST00000396356.3_Missense_Mutation_p.M112L|SOX6_ENST00000528252.1_Missense_Mutation_p.M112L|SOX6_ENST00000533658.1_5'UTR			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	112					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity	p.M112L(1)|p.M115L(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						ACACTGGTCATTATCTCACGG	0.478000													53	36					0	0	0.139131	0	0
EPHA5	2044	broad.mit.edu	37	4	66467388	66467388	+	Missense_Mutation	SNP	C	C	G			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr4:66467388C>G	ENST00000273854.3	-	3	1481	c.881G>C	c.(880-882)gGa>gCa	p.G294A	EPHA5_ENST00000354839.4_Missense_Mutation_p.G294A|EPHA5_ENST00000432638.2_Missense_Mutation_p.G294A|EPHA5_ENST00000511294.1_Missense_Mutation_p.G294A	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	294	Cys-rich.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	p.G294A(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CTCTTCATATCCTGCCTTGCA	0.502000										TSP Lung(17;0.13)			11	13					0	0	0.093190	0	0
NADK	65220	broad.mit.edu	37	1	1687735	1687735	+	Missense_Mutation	SNP	C	C	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr1:1687735C>T	ENST00000344463.4	-	8	1203	c.982G>A	c.(982-984)Gga>Aga	p.G328R	NADK_ENST00000378625.1_Missense_Mutation_p.G328R|NADK_ENST00000341991.3_Missense_Mutation_p.G183R|NADK_ENST00000341426.5_Missense_Mutation_p.G183R|NADK_ENST00000342348.5_Missense_Mutation_p.G151R			O95544	NADK_HUMAN	NAD kinase	183	Poly-Ala.				ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|NAD+ kinase activity|protein binding	p.G151R(1)|p.G183R(1)		NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		GTCCCGTCTCCCCCCAGGCAG	0.522000													9	37					0	0	0.047766	0	0
TRIM51HP	440041	broad.mit.edu	37	11	55064961	55064961	+	RNA	SNP	G	G	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr11:55064961G>T	ENST00000526016.1	-	0	464					NR_038174.2																						TAACCTTCCAGCATCTTGTTC	0.403000													16	33					1.99824e-07	2.29838e-07	0.160694	1	0
EIF2B1	1967	broad.mit.edu	37	12	124106443	124106443	+	Missense_Mutation	SNP	C	C	A	rs141136209		TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr12:124106443C>A	ENST00000424014.2	-	9	986	c.778G>T	c.(778-780)Gcg>Tcg	p.A260S	EIF2B1_ENST00000539951.1_3'UTR	NM_001414.3	NP_001405.1	Q14232	EI2BA_HUMAN	eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa	260					cellular response to stimulus|oligodendrocyte development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex|membrane fraction|plasma membrane	protein binding|translation initiation factor activity	p.A260S(1)		breast(1)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)		CCAGTCTGCGCGACCTTGAGA	0.522000													3	23					0.004672	0.00484536	0.115264	1	0
CCL14	6358	broad.mit.edu	37	17	34311470	34311470	+	Missense_Mutation	SNP	G	G	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr17:34311470G>A	ENST00000480944.2	-	1	2570	c.164C>T	c.(163-165)tCa>tTa	p.S55L	CCL15-CCL14_ENST00000481427.2_3'UTR|CTB-186H2.3_ENST00000593057.1_Intron|CCL14_ENST00000435911.2_Missense_Mutation_p.S49L|CCL14_ENST00000394509.4_Missense_Mutation_p.S33L|CCL14_ENST00000536149.1_Missense_Mutation_p.S49L|CCL14_ENST00000586216.1_Missense_Mutation_p.S33L			Q16627	CCL14_HUMAN	chemokine (C-C motif) ligand 14	33					cellular calcium ion homeostasis|immune response|positive regulation of cell proliferation	extracellular space	chemokine activity|signal transducer activity	p.S33L(1)		large_intestine(1)|lung(6)	7		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GCAGCACTCTGAGGGGTGGTA	0.552000													12	18					0	0	0.093190	0	0
IGHA2	3494	broad.mit.edu	37	14	106054051	106054051	+	RNA	SNP	G	G	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr14:106054051G>T	ENST00000390539.2	-	0	467																											CTTGAACAGCGCTCTTCCCAC	0.602000													6	10					0.000157383	0.000169513	0.038147	1	0
MUC7	4589	broad.mit.edu	37	4	71347098	71347098	+	Missense_Mutation	SNP	G	G	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr4:71347098G>T	ENST00000413702.1	+	4	925	c.637G>T	c.(637-639)Gct>Tct	p.A213S	MUC7_ENST00000304887.5_Missense_Mutation_p.A213S|MUC7_ENST00000456088.1_Missense_Mutation_p.A213S	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	213	Thr-rich.					extracellular region	protein binding	p.A213S(1)		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)			AGAGACCACAGCTGCCCCACC	0.592000													29	31					1.39806e-14	1.90613e-14	0.134883	1	0
AACS	65985	broad.mit.edu	37	12	125621357	125621357	+	Missense_Mutation	SNP	G	G	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr12:125621357G>T	ENST00000316519.6	+	17	2034	c.1828G>T	c.(1828-1830)Ggc>Tgc	p.G610C	AACS_ENST00000543665.1_Intron|AACS_ENST00000316543.10_Missense_Mutation_p.G208C|AACS_ENST00000261686.6_Intron|AACS_ENST00000545511.1_Intron	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	610					fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding	p.G610C(1)		breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		CATCCGCATGGGCTTGTCTGC	0.632000													9	70					3.86212e-05	4.20843e-05	0.069234	1	0
NUP214	8021	broad.mit.edu	37	9	134003738	134003738	+	Missense_Mutation	SNP	G	G	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr9:134003738G>T	ENST00000359428.5	+	3	405	c.261G>T	c.(259-261)ttG>ttT	p.L87F	NUP214_ENST00000411637.2_Missense_Mutation_p.L87F|NUP214_ENST00000451030.1_Missense_Mutation_p.L87F			P35658	NU214_HUMAN	nucleoporin 214kDa	87					carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding	p.L87F(1)		NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TCCAAGGCTTGCTAGTTCCTA	0.403000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""								37	21					1.69901e-12	2.25059e-12	0.080422	1	0
DCC	1630	broad.mit.edu	37	18	51025876	51025876	+	Silent	SNP	G	G	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr18:51025876G>A	ENST00000442544.2	+	27	4723	c.4107G>A	c.(4105-4107)caG>caA	p.Q1369Q	DCC_ENST00000581580.1_Silent_p.Q1002Q|RP11-671P2.1_ENST00000582064.1_RNA	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1369					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.Q1369Q(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TTTTGTCTCAGCCAGGTAAAG	0.433000													7	25					0	0	0.029380	0	0
TNR	7143	broad.mit.edu	37	1	175331943	175331943	+	Nonsense_Mutation	SNP	C	C	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr1:175331943C>A	ENST00000367674.1	-	14	3418	c.2710G>T	c.(2710-2712)Gga>Tga	p.G904*	TNR_ENST00000263525.2_Nonsense_Mutation_p.G904*	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	904	Fibronectin type-III 7.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.G904*(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TCTAGTCGTCCCACTGGAGAA	0.493000													18	56					2.4624e-09	2.97296e-09	0.204396	1	0
HS1BP3	64342	broad.mit.edu	37	2	20818972	20818972	+	Silent	SNP	C	C	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr2:20818972C>A	ENST00000304031.3	-	7	979	c.954G>T	c.(952-954)ctG>ctT	p.L318L		NM_022460.3	NP_071905.3	Q53T59	H1BP3_HUMAN	HCLS1 binding protein 3	318					cell communication		phosphatidylinositol binding	p.L318L(1)		endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	15	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					gctcagCTCCCAGGTTCAGAA	0.587000													16	15					6.31663e-08	7.35624e-08	0.132662	1	0
EIF4G1	1981	broad.mit.edu	37	3	184042135	184042135	+	Splice_Site	SNP	G	G	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr3:184042135G>A	ENST00000342981.4	+	16	3036	c.2622_splice	c.e16+1	p.T874_splice	EIF4G1_ENST00000441154.1_Splice_Site_p.T710_splice|EIF4G1_ENST00000424196.1_Splice_Site_p.T880_splice|EIF4G1_ENST00000319274.6_Splice_Site_p.T873_splice|EIF4G1_ENST00000435046.2_Splice_Site_p.T677_splice|EIF4G1_ENST00000350481.5_Splice_Site_p.T709_splice|EIF4G1_ENST00000346169.2_Splice_Site_p.T873_splice|EIF4G1_ENST00000352767.3_Splice_Site_p.T880_splice|EIF4G1_ENST00000392537.2_Splice_Site_p.T786_splice|EIF4G1_ENST00000414031.1_Splice_Site_p.T833_splice|EIF4G1_ENST00000411531.1_Splice_Site_p.T834_splice|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000434061.2_Splice_Site_p.T678_splice|EIF4G1_ENST00000382330.3_Splice_Site_p.T880_splice|EIF4G1_ENST00000427845.1_Splice_Site_p.T787_splice	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	873	eIF3/EIF4A-binding.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	p.T873T(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AAGCTGCTACGGTGAGAGAAA	0.433000													8	37					0	0	0.047766	0	0
PVRL2	5819	broad.mit.edu	37	19	45381862	45381862	+	Silent	SNP	G	G	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr19:45381862G>A	ENST00000252485.4	+	6	1776	c.1425G>A	c.(1423-1425)cgG>cgA	p.R475R	PVRL2_ENST00000252483.5_Intron	NM_002856.2	NP_002847.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)	534					adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	p.R475R(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		TCTCACGGCGGGCAGTTTATG	0.632000													19	28					0	0	0.069288	0	0
SARS	6301	broad.mit.edu	37	1	109774338	109774338	+	Missense_Mutation	SNP	C	C	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr1:109774338C>T	ENST00000369923.4	+	6	688	c.677C>T	c.(676-678)cCc>cTc	p.P226L	SARS_ENST00000234677.2_Missense_Mutation_p.P226L			P49591	SYSC_HUMAN	seryl-tRNA synthetase	226					seryl-tRNA aminoacylation|tRNA processing	cytosol	ATP binding|protein binding|RNA binding|serine-tRNA ligase activity	p.P226L(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	17		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	ATTTATACCCCCTTTTTCATG	0.522000													31	21					0	0	0.144211	0	0
TRAV16	28667	broad.mit.edu	37	14	22459088	22459088	+	RNA	SNP	T	T	G			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr14:22459088T>G	ENST00000390444.1	+	0	240																											GCTTCACTGCTGACCTTAACA	0.478000													11	24					0	0	0.080935	0	0
LILRA1	11024	broad.mit.edu	37	19	55106301	55106301	+	Missense_Mutation	SNP	G	G	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr19:55106301G>A	ENST00000453777.1	+	4	412	c.242G>A	c.(241-243)gGc>gAc	p.G81D	LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRA1_ENST00000251372.3_Missense_Mutation_p.G81D|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	81	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	p.G81D(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		GTGAAGAAGGGCCAGTTCCCC	0.562000													50	53					0	0	0.139131	0	0
TRAV13-2	28670	broad.mit.edu	37	14	22386725	22386725	+	RNA	SNP	A	A	G			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr14:22386725A>G	ENST00000390439.2	+	0	204																											AACTGTGCTTATTCAAACAGC	0.443000													6	43					0	0	0.058154	0	0
ALS2	57679	broad.mit.edu	37	2	202582933	202582933	+	Splice_Site	SNP	C	C	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr2:202582933C>A	ENST00000264276.6	-	24	4075	c.3702_splice	c.e24-1	p.G1235_splice	ALS2_ENST00000457679.2_3'UTR	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	1235					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity	p.G1235*(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						GTCAGTGTTCCCTAGGTAAAG	0.383000													16	34					6.94344e-10	8.58713e-10	0.175082	1	0
NUP153	9972	broad.mit.edu	37	6	17688767	17688767	+	Missense_Mutation	SNP	A	A	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr6:17688767A>T	ENST00000262077.2	-	2	193	c.194T>A	c.(193-195)gTa>gAa	p.V65E	NUP153_ENST00000537253.1_Missense_Mutation_p.V65E	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	65					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding	p.V65E(1)		NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			ACAGCTGCATACATCTTCATT	0.423000													30	102					0	0	0.125774	0	0
TRBV6-6	28601	broad.mit.edu	37	7	142161992	142161992	+	RNA	SNP	G	G	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr7:142161992G>A	ENST00000390371.3	-	0	326																											TCCAGCCTGAGCGGGAAATAC	0.498000													106	149					0	0	0.139131	0	0
ABCG5	64240	broad.mit.edu	37	2	44053560	44053560	+	Silent	SNP	C	C	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr2:44053560C>A	ENST00000260645.1	-	6	874	c.735G>T	c.(733-735)gtG>gtT	p.V245V	ABCG5_ENST00000543989.1_Intron|ABCG5_ENST00000405322.1_Intron	NM_022436.2	NP_071881.1	Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	245	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	p.V245V(1)		breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TGGTGAGAACCACAATTCGGT	0.532000													19	36					2.4624e-09	2.97296e-09	0.204396	1	0
GUCY2F	2986	broad.mit.edu	37	X	108718455	108718455	+	Missense_Mutation	SNP	G	G	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chrX:108718455G>T	ENST00000218006.2	-	2	1002	c.711C>A	c.(709-711)caC>caA	p.H237Q		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	237					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	p.H237Q(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						TGTCTGCCTGGTGAATCCTCT	0.517000											OREG0019905	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	31	9					1.99505e-19	2.82338e-19	0.163468	1	0
SMARCE1	6605	broad.mit.edu	37	17	38787077	38787077	+	Missense_Mutation	SNP	C	C	G			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr17:38787077C>G	ENST00000348513.6	-	10	1696	c.916G>C	c.(916-918)Gag>Cag	p.E306Q	SMARCE1_ENST00000544009.1_Missense_Mutation_p.E236Q|SMARCE1_ENST00000400122.3_Missense_Mutation_p.E236Q|SMARCE1_ENST00000377808.4_Missense_Mutation_p.E271Q|KRT222_ENST00000476049.1_3'UTR|SMARCE1_ENST00000431889.2_Missense_Mutation_p.E288Q|SMARCE1_ENST00000580419.1_Missense_Mutation_p.E271Q|SMARCE1_ENST00000578044.1_Missense_Mutation_p.E236Q	NM_003079.4	NP_003070.3	Q969G3	SMCE1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1	306					chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nuclear chromosome|SWI/SNF complex|transcriptional repressor complex	chromatin binding|DNA binding|N-acetyltransferase activity|protein binding|protein N-terminus binding|transcription coactivator activity	p.E306*(1)|p.E306Q(1)		large_intestine(1)	1		Breast(137;0.000812)				TCTGCGGCCTCCTTCTCCCTT	0.527000													31	70					0	0	0.163468	0	0
IRGC	56269	broad.mit.edu	37	19	44223928	44223928	+	Missense_Mutation	SNP	T	T	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr19:44223928T>A	ENST00000244314.5	+	2	1417	c.1218T>A	c.(1216-1218)gaT>gaA	p.D406E		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	406						membrane	GTP binding|hydrolase activity, acting on acid anhydrides	p.D406E(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				CCCTGGAGGATGACGAGCCGC	0.647000													13	9					0	0	0.119110	0	0
MED12L	116931	broad.mit.edu	37	3	151105632	151105632	+	Missense_Mutation	SNP	C	C	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr3:151105632C>T	ENST00000474524.1	+	35	5056	c.5018C>T	c.(5017-5019)cCg>cTg	p.P1673L	MED12L_ENST00000273432.4_Missense_Mutation_p.P1533L	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1673					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		p.P1673L(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AAGGTGTCCCCGTGGGACTTG	0.527000													24	23					0	0	0.116897	0	0
CNOT1	23019	broad.mit.edu	37	16	58621300	58621300	+	Silent	SNP	G	G	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr16:58621300G>T	ENST00000317147.5	-	5	659	c.327C>A	c.(325-327)ccC>ccA	p.P109P	CNOT1_ENST00000569240.1_Silent_p.P109P|CNOT1_ENST00000441024.2_Silent_p.P109P	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	109					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		p.P109P(2)		breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CAAATAAGTGGGGTGCAGGCT	0.333000													7	50					0.00307968	0.00319989	0.038147	1	0
COL12A1	1303	broad.mit.edu	37	6	75884799	75884799	+	Missense_Mutation	SNP	A	A	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr6:75884799A>T	ENST00000322507.8	-	13	2974	c.2665T>A	c.(2665-2667)Tct>Act	p.S889T	COL12A1_ENST00000416123.2_Missense_Mutation_p.S889T|COL12A1_ENST00000483888.2_Missense_Mutation_p.S889T|COL12A1_ENST00000345356.6_Intron	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	889	Fibronectin type-III 5.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	p.S889T(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CCAGCCCCAGACGCATACAAG	0.478000													24	94					0	0	0.091800	0	0
ATP13A5	344905	broad.mit.edu	37	3	193023452	193023452	+	Missense_Mutation	SNP	C	C	G			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr3:193023452C>G	ENST00000342358.4	-	23	2691	c.2574G>C	c.(2572-2574)ttG>ttC	p.L858F	ATP13A5_ENST00000495496.1_5'UTR	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	858					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	p.L858F(1)		NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		GAGCCGCTTTCAAAGCCTGGA	0.443000													17	63					0	0	0.160694	0	0
AHNAK2	113146	broad.mit.edu	37	14	105418113	105418113	+	Silent	SNP	G	G	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr14:105418113G>T	ENST00000333244.5	-	7	3794	c.3675C>A	c.(3673-3675)ggC>ggA	p.G1225G	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1225						nucleus		p.G1225G(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CGTCCACCTGGCCAGCGTGGA	0.627000													19	71					3.51602e-12	4.6246e-12	0.204396	1	0
FAM19A2	338811	broad.mit.edu	37	12	62148764	62148764	+	Missense_Mutation	SNP	G	G	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr12:62148764G>A	ENST00000416284.3	-	3	1732	c.148C>T	c.(148-150)Cac>Tac	p.H50Y	FAM19A2_ENST00000551619.1_Missense_Mutation_p.H50Y|FAM19A2_ENST00000551449.1_Intron|FAM19A2_ENST00000550003.1_5'UTR	NM_178539.4	NP_848634.1	Q8N3H0	F19A2_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A2	50						cytoplasm		p.H50Y(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	15			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		CAGCATCTGTGGAGTGCCACC	0.502000													17	18					0	0	0.204396	0	0
KRT24	192666	broad.mit.edu	37	17	38855764	38855764	+	Missense_Mutation	SNP	C	C	G			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr17:38855764C>G	ENST00000264651.2	-	6	1349	c.1293G>C	c.(1291-1293)ttG>ttC	p.L431F		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	431	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity	p.L431F(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				TGATGTCCAGCAATTGCTTGT	0.517000													36	84					0	0	0.203993	0	0
TTK	7272	broad.mit.edu	37	6	80749412	80749412	+	Splice_Site	SNP	G	G	C			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr6:80749412G>C	ENST00000509894.1	+	19	2956		c.e19-1		TTK_ENST00000230510.3_Splice_Site|TTK_ENST00000369798.2_Splice_Site			P33981	TTK_HUMAN	TTK protein kinase						mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.?(2)		endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		TTTTTTCTTAGATAAGCCCCA	0.244000													9	56					0	0	0.069234	0	0
RP11-478B9.1	0	broad.mit.edu	37	12	45458235	45458235	+	RNA	SNP	C	C	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr12:45458235C>T	ENST00000548424.1	+	0	448																											CTGCTTTCCACATGGAACATA	0.453000													4	10					0	0	0.184627	0	0
TMCO4	255104	broad.mit.edu	37	1	20009765	20009765	+	Missense_Mutation	SNP	T	T	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr1:20009765T>A	ENST00000294543.6	-	16	1914	c.1673A>T	c.(1672-1674)cAg>cTg	p.Q558L	TMCO4_ENST00000489814.1_5'UTR|TMCO4_ENST00000375122.2_Missense_Mutation_p.Q518L|TMCO4_ENST00000375127.1_Intron	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	558						integral to membrane		p.Q558L(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		TTGCCCAACCTGGTGGGGGGT	0.667000													31	43					0	0	0.163468	0	0
CDCP2	200008	broad.mit.edu	37	1	54605588	54605588	+	Missense_Mutation	SNP	G	G	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr1:54605588G>T	ENST00000371330.1	-	4	1802	c.955C>A	c.(955-957)Ctg>Atg	p.L319M		NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2	319	CUB 3.					extracellular region		p.L319M(1)		kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						AAGGCCGCCAGATGGTCAAAG	0.632000													3	18					0.115264	0.116938	0.115264	1	0
SSU72	29101	broad.mit.edu	37	1	1500234	1500234	+	Missense_Mutation	SNP	G	G	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr1:1500234G>T	ENST00000359060.4	-	2	169	c.143C>A	c.(142-144)gCt>gAt	p.A48D	SSU72_ENST00000291386.3_Missense_Mutation_p.A48D			Q9NP77	SSU72_HUMAN	SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae)	48					mRNA processing	cytoplasm|nucleus	phosphoprotein phosphatase activity	p.A48D(1)		large_intestine(2)|lung(5)	7	all_cancers(77;0.00125)|all_epithelial(69;0.000703)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.03e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;5.04e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.72e-23)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;0.000188)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|BRCA - Breast invasive adenocarcinoma(365;0.00837)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		CTTGTCGGGAGCTGGTCCTGG	0.468000													29	33					2.49675e-24	3.67285e-24	0.125774	1	0
CHDC2	286464	broad.mit.edu	37	X	36122632	36122632	+	Missense_Mutation	SNP	G	G	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chrX:36122632G>T	ENST00000378660.1	+	8	1057	c.869G>T	c.(868-870)cGt>cTt	p.R290L	CHDC2_ENST00000313548.4_Missense_Mutation_p.R290L					calponin homology domain containing 2									p.R290L(1)									GTTCTATCCCGTGTAGTGCCA	0.333000													18	17					0.00121646	0.00128061	0.204396	1	0
LACTB2	51110	broad.mit.edu	37	8	71553275	71553275	+	Silent	SNP	T	T	G			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr8:71553275T>G	ENST00000276590.4	-	5	639	c.603A>C	c.(601-603)ccA>ccC	p.P201P	RP11-382J12.1_ENST00000518553.1_Intron|RP11-382J12.1_ENST00000499227.2_Intron|LACTB2_ENST00000517601.1_Intron|LACTB2_ENST00000522447.1_Silent_p.P201P	NM_016027.2	NP_057111.1	Q53H82	LACB2_HUMAN	lactamase, beta 2	201							hydrolase activity|metal ion binding	p.P201P(1)		endometrium(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|prostate(1)	10	Breast(64;0.0716)		Epithelial(68;0.00319)|all cancers(69;0.0175)|OV - Ovarian serous cystadenocarcinoma(28;0.0628)|BRCA - Breast invasive adenocarcinoma(89;0.166)			TATGAATTACTGGGCCATGTC	0.289000													21	17					0	0	0.069288	0	0
NPHS2	7827	broad.mit.edu	37	1	179533922	179533922	+	Missense_Mutation	SNP	T	T	G			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr1:179533922T>G	ENST00000367615.4	-	2	349	c.281A>C	c.(280-282)aAa>aCa	p.K94T	NPHS2_ENST00000367616.4_Missense_Mutation_p.K94T	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	94					excretion	integral to plasma membrane	protein binding	p.K94T(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						GCCGGAGGATTTGGTACCTTA	0.413000													3	28					0	0	0.150653	0	0
COL11A1	1301	broad.mit.edu	37	1	103449747	103449747	+	Splice_Site	SNP	C	C	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr1:103449747C>A	ENST00000358392.2	-	31	2856	c.2538_splice	c.e31-1	p.G847_splice	COL11A1_ENST00000512756.1_Splice_Site_p.G719_splice|COL11A1_ENST00000353414.4_Splice_Site_p.G796_splice|COL11A1_ENST00000370096.3_Splice_Site_p.G835_splice	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	835	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	p.G835*(1)|p.G847*(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CCAAGTTTTCCCTACAGttaa	0.259000													6	16					0.00198382	0.00208059	0.029380	1	0
OCA2	4948	broad.mit.edu	37	15	28230271	28230271	+	Missense_Mutation	SNP	C	C	G			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr15:28230271C>G	ENST00000354638.3	-	13	1458	c.1303G>C	c.(1303-1305)Gtc>Ctc	p.V435L	OCA2_ENST00000353809.5_Missense_Mutation_p.V411L|OCA2_ENST00000382996.2_Missense_Mutation_p.V435L	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	435					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	p.V435L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GCAGAGAGGACGGCCGCGATG	0.597000									Oculocutaneous Albinism				8	7					0	0	0.069234	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102510613	102510613	+	Silent	SNP	C	C	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr14:102510613C>T	ENST00000360184.4	+	71	12851	c.12687C>T	c.(12685-12687)ggC>ggT	p.G4229G	RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4229					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	p.G4229G(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TCCCCCAGGGCAGGCAGAACA	0.602000													3	28					0	0	0.115264	0	0
C1orf200	644997	broad.mit.edu	37	1	9714378	9714378	+	Silent	SNP	T	T	C			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr1:9714378T>C	ENST00000377320.3	-	1	266	c.117A>G	c.(115-117)gcA>gcG	p.A39A	PIK3CD_ENST00000536656.1_Intron|PIK3CD_ENST00000377346.4_Intron					chromosome 1 open reading frame 200									p.A39A(1)		endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)	9	all_lung(157;0.222)	Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.86e-08)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(185;0.000231)|KIRC - Kidney renal clear cell carcinoma(229;0.000879)|BRCA - Breast invasive adenocarcinoma(304;0.00178)|STAD - Stomach adenocarcinoma(132;0.00331)|READ - Rectum adenocarcinoma(331;0.0419)		GCCAGGTCTTTGCACTAAGCT	0.587000													19	34					0	0	0.189662	0	0
MAGEB16	139604	broad.mit.edu	37	X	35820657	35820657	+	Missense_Mutation	SNP	A	A	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chrX:35820657A>T	ENST00000399989.1	+	2	623	c.344A>T	c.(343-345)cAg>cTg	p.Q115L	MAGEB16_ENST00000399988.1_Missense_Mutation_p.Q115L|MAGEB16_ENST00000399987.1_Missense_Mutation_p.Q115L|MAGEB16_ENST00000399992.1_Missense_Mutation_p.Q147L|MAGEB16_ENST00000399985.1_Missense_Mutation_p.Q115L	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	115	MAGE.							p.Q282L(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						GCTCTCGACCAGAAAGTGGCT	0.438000													6	4					0	0	0.029380	0	0
AGMO	392636	broad.mit.edu	37	7	15458244	15458244	+	Missense_Mutation	SNP	G	G	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr7:15458244G>A	ENST00000342526.3	-	5	717	c.548C>T	c.(547-549)cCt>cTt	p.P183L		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	183					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding	p.P183H(1)|p.P183N(1)|p.P183L(1)		breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						ATATACTGAAGGGGGTATGAA	0.299000													12	3					0	0	0.105934	0	0
TUBA3D	113457	broad.mit.edu	37	2	132238318	132238318	+	Missense_Mutation	SNP	T	T	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr2:132238318T>A	ENST00000321253.6	+	4	1159	c.1052T>A	c.(1051-1053)tTt>tAt	p.F351Y		NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	351					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	p.F351Y(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		CCGACTGGATTTAAGGTATGA	0.547000													9	48					0	0	0.069234	0	0
STX7	8417	broad.mit.edu	37	6	132785215	132785215	+	Splice_Site	SNP	C	C	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr6:132785215C>A	ENST00000367941.2	-	9	724		c.e9-1		STX7_ENST00000367937.4_Splice_Site	NM_003569.2	NP_003560.2	O15400	STX7_HUMAN	syntaxin 7						intracellular protein transport|post-Golgi vesicle-mediated transport	early endosome membrane|integral to membrane	SNAP receptor activity	p.?(1)		NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(1)|lung(5)	19	Breast(56;0.0615)			OV - Ovarian serous cystadenocarcinoma(155;0.00532)|GBM - Glioblastoma multiforme(226;0.0114)		TCTATGCTATCTGTAAAATAA	0.368000													29	49					1.2476e-16	1.73485e-16	0.116897	1	0
TTC21A	199223	broad.mit.edu	37	3	39167012	39167012	+	Missense_Mutation	SNP	T	T	C			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr3:39167012T>C	ENST00000301819.6	+	11	1582	c.1405T>C	c.(1405-1407)Tgc>Cgc	p.C469R	TTC21A_ENST00000440121.1_Missense_Mutation_p.C420R|TTC21A_ENST00000431162.2_Missense_Mutation_p.C469R	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	469							binding	p.C469R(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CTTGCTCTTCTGCCCCAAGCA	0.537000													31	29					0	0	0.173368	0	0
ZNF18	7566	broad.mit.edu	37	17	11881705	11881705	+	Missense_Mutation	SNP	G	G	C			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr17:11881705G>C	ENST00000322748.3	-	9	1823	c.1219C>G	c.(1219-1221)Ctc>Gtc	p.L407V	ZNF18_ENST00000454073.3_Missense_Mutation_p.L406V|ZNF18_ENST00000580306.1_Missense_Mutation_p.L407V|ZNF18_ENST00000580613.1_Intron	NM_144680.2	NP_653281.2	P17022	ZNF18_HUMAN	zinc finger protein 18	407					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.L407V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		CAGGTGGGGAGCTTCTGGGCC	0.507000													57	21					0	0	0.139131	0	0
RB1	5925	broad.mit.edu	37	13	48954377	48954377	+	Splice_Site	SNP	A	A	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr13:48954377A>T	ENST00000267163.4	+	16	1636	c.1498_splice	c.e16+1	p.R500_splice		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	500	Domain A.|Pocket; binds T and E1A.		R -> G (in RB).	RS -> SN (in Ref. 7; AAN64133).	androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(8)|p.R500*(2)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CACATATAGCAGTAAGTTAAA	0.338000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			7	4					0	0	0.047766	0	0
SYCP2	10388	broad.mit.edu	37	20	58461889	58461889	+	Splice_Site	SNP	T	T	C			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr20:58461889T>C	ENST00000357552.3	-	25	2590	c.2364_splice	c.e25-1	p.R789_splice	SYCP2_ENST00000371001.2_Splice_Site_p.R789_splice			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	789					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	p.R789G(1)		NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			GACTTTTCTCTCTGAAAAAAA	0.274000													7	35					0	0	0.038147	0	0
CCL25	6370	broad.mit.edu	37	19	8121327	8121327	+	Missense_Mutation	SNP	T	T	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr19:8121327T>A	ENST00000253451.4	+	4	375	c.269T>A	c.(268-270)cTg>cAg	p.L90Q	CCL25_ENST00000390669.3_Missense_Mutation_p.L90Q|CCL25_ENST00000315626.4_Intron	NM_001201359.1|NM_005624.3	NP_001188288.1|NP_005615.2	O15444	CCL25_HUMAN	chemokine (C-C motif) ligand 25	90					chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response	extracellular space|soluble fraction	CCR10 chemokine receptor binding|chemokine activity|hormone activity	p.L90Q(1)		NS(1)|endometrium(1)|lung(1)|skin(1)|urinary_tract(1)	5						ATGAAGCTCCTGGATGCTCGA	0.577000													8	14					0	0	0.069234	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84532864	84532864	+	RNA	SNP	C	C	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr9:84532864C>A	ENST00000527857.1	+	0	2886					NR_026851.1																						CCCTCCTCAGCCAGCTTTATT	0.453000													3	9					0.00024832	0.000265921	0.150653	1	0
FANCM	57697	broad.mit.edu	37	14	45633758	45633758	+	Missense_Mutation	SNP	G	G	C			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr14:45633758G>C	ENST00000267430.5	+	10	1863	c.1778G>C	c.(1777-1779)cGa>cCa	p.R593P	FANCM_ENST00000556036.1_Missense_Mutation_p.R593P|FANCM_ENST00000542564.2_Missense_Mutation_p.R567P	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	593	Helicase C-terminal.				DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	p.R593P(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TCTGAAGGACGAGAGGAACGT	0.418000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				11	10					0	0	0.069234	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142481339	142481339	+	RNA	SNP	A	A	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr7:142481339A>T	ENST00000603901.1	+	0	413					NR_001296.3													p.E138V(1)									GCTGGCACCGAGTGCCTTATC	0.557000													12	18					0	0	0.105934	0	0
PTPRT	11122	broad.mit.edu	37	20	40790092	40790092	+	Missense_Mutation	SNP	G	G	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr20:40790092G>T	ENST00000373198.3	-	18	2883	c.2648C>A	c.(2647-2649)cCc>cAc	p.P883H	PTPRT_ENST00000373201.1_Missense_Mutation_p.P851H|PTPRT_ENST00000373184.1_Missense_Mutation_p.P851H|PTPRT_ENST00000356100.2_Missense_Mutation_p.P870H|PTPRT_ENST00000373187.1_Missense_Mutation_p.P861H|PTPRT_ENST00000373190.1_Missense_Mutation_p.P860H|PTPRT_ENST00000373193.3_Missense_Mutation_p.P864H	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	861					homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.P883H(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CTGGTCCCGGGGGTAGCTCAT	0.612000													30	51					2.20474e-14	2.99866e-14	0.193644	1	0
HOXB1	3211	broad.mit.edu	37	17	46607742	46607742	+	Silent	SNP	G	G	C			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr17:46607742G>C	ENST00000239174.6	-	1	617	c.525C>G	c.(523-525)ccC>ccG	p.P175P	HOXB1_ENST00000577092.1_Silent_p.P175P	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	175						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity	p.P175P(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TCCGGGCCGTGGGGGTGTTAG	0.592000													8	15					0	0	0.058154	0	0
SERPINB12	89777	broad.mit.edu	37	18	61223420	61223420	+	Missense_Mutation	SNP	A	A	G			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr18:61223420A>G	ENST00000382768.1	+	1	28	c.28A>G	c.(28-30)Aaa>Gaa	p.K10E	SERPINB12_ENST00000269491.1_Missense_Mutation_p.K10E			Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	10					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity	p.K10E(1)		kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						AGCAAACACCAAATTTTGCTT	0.358000													33	119					0	0	0.203993	0	0
BZW1	9689	broad.mit.edu	37	2	201683039	201683039	+	Nonsense_Mutation	SNP	C	C	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr2:201683039C>T	ENST00000409600.1	+	8	1197	c.742C>T	c.(742-744)Cag>Tag	p.Q248*	BZW1_ENST00000452790.2_Nonsense_Mutation_p.Q280*|BZW1_ENST00000409226.1_Nonsense_Mutation_p.Q252*	NM_001207067.1|NM_014670.3	NP_001193996.1|NP_055485.2	Q7L1Q6	BZW1_HUMAN	basic leucine zipper and W2 domains 1	248	W2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	protein binding	p.Q248*(1)|p.Q280*(1)		breast(1)|kidney(2)|large_intestine(1)|lung(2)	6						TGTTCGGAATCAGCAAACCAT	0.403000													18	23					0	0	0.055883	0	0
ADCY5	111	broad.mit.edu	37	3	123003553	123003553	+	Missense_Mutation	SNP	C	C	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr3:123003553C>T	ENST00000462833.1	-	21	4900	c.3688G>A	c.(3688-3690)Gcc>Acc	p.A1230T	ADCY5_ENST00000309879.5_Missense_Mutation_p.A880T|ADCY5_ENST00000491190.1_Missense_Mutation_p.A888T	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	1230					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	p.A1230T(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		TACGTGTTGGCAGCCAGCACC	0.602000													17	127					0	0	0.175082	0	0
SCN11A	11280	broad.mit.edu	37	3	38908896	38908896	+	Silent	SNP	T	T	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr3:38908896T>A	ENST00000450244.1	-	23	4065	c.3867A>T	c.(3865-3867)gtA>gtT	p.V1289V	SCN11A_ENST00000456224.3_Silent_p.V1251V|SCN11A_ENST00000444237.2_Silent_p.V1289V|SCN11A_ENST00000302328.3_Silent_p.V1289V			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1289					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.V1289V(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TGATAAAGACTACGAAGTAAA	0.343000													25	14					0	0	0.116897	0	0
MED12L	116931	broad.mit.edu	37	3	151105633	151105633	+	Silent	SNP	G	G	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr3:151105633G>T	ENST00000474524.1	+	35	5057	c.5019G>T	c.(5017-5019)ccG>ccT	p.P1673P	MED12L_ENST00000273432.4_Silent_p.P1533P	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1673					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		p.P1673L(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGGTGTCCCCGTGGGACTTGT	0.532000													24	24					3.65163e-15	5.02773e-15	0.116897	1	0
PTPRC	5788	broad.mit.edu	37	1	198711119	198711119	+	Missense_Mutation	SNP	G	G	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr1:198711119G>T	ENST00000367376.2	+	24	2690	c.2519G>T	c.(2518-2520)aGc>aTc	p.S840I	PTPRC_ENST00000442510.2_Missense_Mutation_p.S842I|PTPRC_ENST00000594404.1_Missense_Mutation_p.S679I|PTPRC_ENST00000348564.6_Missense_Mutation_p.S681I|PTPRC_ENST00000352140.3_Missense_Mutation_p.S792I	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	840	Tyrosine-protein phosphatase 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	p.S840I(1)		breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						AATGCCTTCAGCAATTTCTTC	0.468000													10	15					7.48243e-07	8.43282e-07	0.058154	1	0
RAVER1	125950	broad.mit.edu	37	19	10433905	10433905	+	Nonsense_Mutation	SNP	G	G	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr19:10433905G>A	ENST00000293677.6	-	5	1126	c.1045C>T	c.(1045-1047)Cag>Tag	p.Q349*		NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	ribonucleoprotein, PTB-binding 1	332	Interaction with PTBP1 (By similarity).					cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding	p.Q349*(1)|p.Q332*(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			TTGAGCAGCTGCAGGATGTTG	0.657000													8	8					0	0	0.038147	0	0
OR2L3	391192	broad.mit.edu	37	1	248224182	248224182	+	Missense_Mutation	SNP	C	C	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr1:248224182C>A	ENST00000359959.3	+	1	199	c.199C>A	c.(199-201)Ctc>Atc	p.L67I	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	67					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L67I(1)		cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	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;0.0278)			TCAGCTCTCCCTCATTGACCT	0.428000													78	182					9.35569e-46	1.42892e-45	0.139131	1	0
NLRP5	126206	broad.mit.edu	37	19	56544081	56544081	+	Missense_Mutation	SNP	C	C	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr19:56544081C>T	ENST00000390649.3	+	8	2381	c.2381C>T	c.(2380-2382)aCa>aTa	p.T794I		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	794						mitochondrion|nucleolus	ATP binding	p.T794I(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		AGCATCCTGACAGAGCGGGCC	0.597000													28	41					0	0	0.134883	0	0
KDM6B	23135	broad.mit.edu	37	17	7753205	7753205	+	Missense_Mutation	SNP	G	G	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr17:7753205G>T	ENST00000254846.5	+	12	3896	c.3507G>T	c.(3505-3507)aaG>aaT	p.K1169N	KDM6B_ENST00000448097.2_Missense_Mutation_p.K1169N	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1169					inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.K1169N(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						TGAAACCGAAGATCAACACTG	0.537000													88	145					3.74737e-82	5.78668e-82	0.139131	1	0
UGT3A1	133688	broad.mit.edu	37	5	35991280	35991280	+	Missense_Mutation	SNP	C	C	G			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr5:35991280C>G	ENST00000274278.3	-	1	420	c.63G>C	c.(61-63)gaG>gaC	p.E21D	UGT3A1_ENST00000333811.4_Intron|UGT3A1_ENST00000513233.1_5'UTR|UGT3A1_ENST00000507113.1_Missense_Mutation_p.E21D|UGT3A1_ENST00000503189.1_Missense_Mutation_p.E21D	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	21						integral to membrane	glucuronosyltransferase activity	p.E21D(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTTTGGCAGCCTCTGAGAGCA	0.602000													5	150					0	0	0.184627	0	0
GATAD2B	57459	broad.mit.edu	37	1	153789997	153789997	+	Missense_Mutation	SNP	C	C	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr1:153789997C>A	ENST00000368655.4	-	6	994	c.751G>T	c.(751-753)Gct>Tct	p.A251S		NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	251						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A251S(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GTATTGGTAGCTGAACGGATG	0.502000													10	19					7.03913e-09	8.38992e-09	0.093190	1	0
POLN	353497	broad.mit.edu	37	4	2129883	2129883	+	Missense_Mutation	SNP	C	C	G			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr4:2129883C>G	ENST00000511885.2	-	19	2292	c.1939G>C	c.(1939-1941)Gaa>Caa	p.E647Q	POLN_ENST00000382865.1_Missense_Mutation_p.E647Q			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	647					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity	p.E647Q(1)		kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			CTTTCAGATTCCTGGAATAAC	0.363000								DNA polymerases (catalytic subunits)					14	6					0	0	0.132662	0	0
CAND1	55832	broad.mit.edu	37	12	67698483	67698483	+	Silent	SNP	A	A	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr12:67698483A>T	ENST00000545606.1	+	9	1829	c.1392A>T	c.(1390-1392)gtA>gtT	p.V464V		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	464					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding	p.V464V(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		TGGTAAATGTATTACCTGGGG	0.378000													8	39					0	0	0.038147	0	0
TRBV4-1	28617	broad.mit.edu	37	7	142013344	142013344	+	RNA	SNP	G	G	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr7:142013344G>T	ENST00000390357.3	+	0	228																											GCTCATGTTTGTCTACAGCTA	0.438000													58	80					1.3268e-25	1.96733e-25	0.139131	1	0
GAB3	139716	broad.mit.edu	37	X	153927568	153927568	+	Splice_Site	SNP	C	C	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chrX:153927568C>A	ENST00000369575.3	-	6	1374		c.e6+1		GAB3_ENST00000496390.1_Splice_Site|GAB3_ENST00000424127.2_Splice_Site	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3									p.?(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CAAGTGCTTACATTTCCTCTG	0.517000													49	67					1.07234e-20	1.53703e-20	0.139131	1	0
FPR3	2359	broad.mit.edu	37	19	52327526	52327526	+	Silent	SNP	C	C	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr19:52327526C>T	ENST00000339223.4	+	2	704	c.525C>T	c.(523-525)taC>taT	p.Y175Y	FPR3_ENST00000595991.1_Silent_p.Y175Y	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	175					cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity	p.Y175Y(1)		NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						GGGACACATACTGTATTTTCA	0.433000													58	132					0	0	0.139131	0	0
PDSS2	57107	broad.mit.edu	37	6	107533454	107533454	+	Silent	SNP	C	C	G			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr6:107533454C>G	ENST00000369037.4	-	5	1012	c.735G>C	c.(733-735)tcG>tcC	p.S245S	PDSS2_ENST00000453874.2_Intron	NM_020381.3	NP_065114.3	Q86YH6	DLP1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 2	245					isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	protein heterodimerization activity	p.S245S(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)	19	Breast(9;0.0127)	all_cancers(87;3.63e-05)|Acute lymphoblastic leukemia(125;2.86e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.0108)|Colorectal(196;0.156)|Lung NSC(302;0.211)	BRCA - Breast invasive adenocarcinoma(8;0.0101)|all cancers(7;0.243)	BRCA - Breast invasive adenocarcinoma(108;0.112)|OV - Ovarian serous cystadenocarcinoma(136;0.173)|all cancers(137;0.191)		CCTTCCAAGTCGATATTCCAA	0.363000													15	56					0	0	0.119110	0	0
CXXC5	51523	broad.mit.edu	37	5	139060874	139060874	+	Missense_Mutation	SNP	G	G	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr5:139060874G>A	ENST00000302517.3	+	2	1480	c.766G>A	c.(766-768)Ggc>Agc	p.G256S	CXXC5_ENST00000511048.1_Missense_Mutation_p.G256S|CXXC5_ENST00000515038.1_3'UTR	NM_016463.7	NP_057547.5	Q7LFL8	CXXC5_HUMAN	CXXC finger protein 5	256					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|nucleus	DNA binding|signal transducer activity|zinc ion binding	p.G256S(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATCAGCTCCGGCAAGAAGAA	0.642000													49	19					0	0	0.139131	0	0
LVRN	206338	broad.mit.edu	37	5	115350132	115350132	+	Missense_Mutation	SNP	A	A	C			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr5:115350132A>C	ENST00000357872.4	+	16	2482	c.2358A>C	c.(2356-2358)aaA>aaC	p.K786N	AQPEP_ENST00000515454.1_3'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		786					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding	p.K786N(1)									CACTGGAAAAACTTTTTGTAA	0.363000													18	29					0	0	0.175082	0	0
EIF5	1983	broad.mit.edu	37	14	103805183	103805183	+	Missense_Mutation	SNP	G	G	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr14:103805183G>A	ENST00000216554.3	+	8	1373	c.697G>A	c.(697-699)Gaa>Aaa	p.E233K	EIF5_ENST00000392715.2_Missense_Mutation_p.E233K|EIF5_ENST00000558506.1_Missense_Mutation_p.E233K	NM_001969.4	NP_001960.2	P55010	IF5_HUMAN	eukaryotic translation initiation factor 5	233	W2.				regulation of translational initiation|RNA metabolic process	cytosol	GTP binding|GTPase activity|translation initiation factor activity	p.E233K(1)		breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18		Melanoma(154;0.155)	Epithelial(46;0.182)			TGATGATTTGGAAAGAACAAT	0.423000													7	51					0	0	0.029380	0	0
EXOC3L4	91828	broad.mit.edu	37	14	103566613	103566613	+	Silent	SNP	T	T	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr14:103566613T>A	ENST00000380069.3	+	1	133	c.57T>A	c.(55-57)gcT>gcA	p.A19A		NM_001077594.1	NP_001071062.1	Q17RC7	EX3L4_HUMAN	exocyst complex component 3-like 4	19								p.A19A(1)		cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						CCAAGGAGGCTGAGGAGCCAC	0.637000													3	4					0	0	0.150653	0	0
GCNT2	2651	broad.mit.edu	37	6	10586809	10586809	+	Missense_Mutation	SNP	C	C	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr6:10586809C>T	ENST00000265012.4	+	1	831	c.587C>T	c.(586-588)cCc>cTc	p.P196L	GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000316170.3_Intron|GCNT2_ENST00000397423.2_Intron	NM_145655.3	NP_663630.2	Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	196						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	p.P196L(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		CAAGACTTCCCCCTGAAAACC	0.502000													17	78					0	0	0.146539	0	0
AKAP12	9590	broad.mit.edu	37	6	151674269	151674269	+	Silent	SNP	C	C	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr6:151674269C>T	ENST00000402676.2	+	4	4983	c.4743C>T	c.(4741-4743)caC>caT	p.H1581H	AKAP12_ENST00000354675.6_Silent_p.H1483H|AKAP12_ENST00000359755.5_Silent_p.H1476H|AKAP12_ENST00000253332.1_Silent_p.H1581H	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1581					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding	p.H1581H(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		CACAAGCTCACGTGATAAAAG	0.483000													10	43					0	0	0.058154	0	0
BAGE2	85319	broad.mit.edu	37	21	11039103	11039103	+	RNA	SNP	G	G	C			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr21:11039103G>C	ENST00000470054.1	-	0	1100									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCTCCTTGTAGCCTTTCTATA	0.398000													13	296					0	0	0.093190	0	0
BIRC6	57448	broad.mit.edu	37	2	32640830	32640830	+	Missense_Mutation	SNP	A	A	G			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr2:32640830A>G	ENST00000421745.2	+	10	2605	c.2471A>G	c.(2470-2472)tAt>tGt	p.Y824C		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	824					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	p.Y796C(1)|p.Y824C(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					AGTGGTGGATATTTAGTGCTT	0.373000													17	15					0	0	0.146539	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68275994	68275994	+	Missense_Mutation	SNP	C	C	G			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr14:68275994C>G	ENST00000347230.4	-	4	424	c.286G>C	c.(286-288)Gtt>Ctt	p.V96L	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.V96L	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	96					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	p.V96L(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CGGAAAACAACTGGGAGTAAC	0.368000													26	44					0	0	0.108266	0	0
SLC9A3	6550	broad.mit.edu	37	5	479956	479956	+	Missense_Mutation	SNP	C	C	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr5:479956C>T	ENST00000264938.3	-	10	1651	c.1642G>A	c.(1642-1644)Gct>Act	p.A548T	SLC9A3_ENST00000514375.1_Missense_Mutation_p.A539T|CTD-2228K2.7_ENST00000607005.1_RNA|CTD-2228K2.7_ENST00000606288.1_RNA|CTD-2228K2.7_ENST00000607286.1_RNA	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	548						cell surface|integral to membrane	sodium:hydrogen antiporter activity	p.A548T(1)		NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GCTACCTCAGCCACGTAGCTG	0.642000													5	68					0	0	0.021553	0	0
SYNE1	23345	broad.mit.edu	37	6	152647436	152647436	+	Missense_Mutation	SNP	C	C	G			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr6:152647436C>G	ENST00000367255.5	-	79	15889	c.15288G>C	c.(15286-15288)ttG>ttC	p.L5096F	SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000265368.4_Missense_Mutation_p.L5096F|SYNE1_ENST00000448038.1_Missense_Mutation_p.L5025F|SYNE1_ENST00000423061.1_Missense_Mutation_p.L5025F	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5096					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	p.L5096F(2)|p.L5025F(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AATACCTCTGCAAGAGATCCA	0.428000										HNSCC(10;0.0054)			4	56					0	0	0.184627	0	0
LOC100130331	100130331	broad.mit.edu	37	1	238090465	238090465	+	RNA	SNP	C	C	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr1:238090465C>A	ENST00000450451.1	+	0	1971					NR_027247.2																						GCCCGAACCCCAAGGCCAACA	0.582000													14	18					4.36969e-10	5.44022e-10	0.105934	1	0
AGBL1	123624	broad.mit.edu	37	15	86807971	86807971	+	Silent	SNP	T	T	C			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr15:86807971T>C	ENST00000441037.2	+	10	1526	c.1431T>C	c.(1429-1431)tcT>tcC	p.S477S	AGBL1_ENST00000421325.2_Silent_p.S477S|AGBL1_ENST00000389298.3_Silent_p.S208S	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	477					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	p.S477S(1)		NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						GAACCAGCTCTGTGGTGGACT	0.483000													18	27					0	0	0.175082	0	0
DNAH5	1767	broad.mit.edu	37	5	13830206	13830206	+	Nonsense_Mutation	SNP	T	T	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr5:13830206T>A	ENST00000265104.4	-	37	6282	c.6178A>T	c.(6178-6180)Aaa>Taa	p.K2060*		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2060	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.K2060*(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AAAGACTTTTTGTGCTCCTTT	0.383000									Kartagener syndrome				28	43					0	0	0.108266	0	0
ASCC2	84164	broad.mit.edu	37	22	30221692	30221692	+	Missense_Mutation	SNP	C	C	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr22:30221692C>A	ENST00000397771.2	-	4	336	c.159G>T	c.(157-159)gaG>gaT	p.E53D	ASCC2_ENST00000542393.1_Intron|ASCC2_ENST00000307790.3_Missense_Mutation_p.E53D			Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit 2	53					regulation of transcription, DNA-dependent|transcription, DNA-dependent			p.E53D(1)		endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			CCAGGTACTCCTCCACTAGGG	0.517000													35	30					1.36615e-20	1.95313e-20	0.173368	1	0
TTN	7273	broad.mit.edu	37	2	179423169	179423169	+	Missense_Mutation	SNP	C	C	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr2:179423169C>T	ENST00000589042.1	-	327	87241	c.87017G>A	c.(87016-87018)aGa>aAa	p.R29006K	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R27365K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R19941K|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R26438K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R20066K|TTN_ENST00000342175.6_Missense_Mutation_p.R20133K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27365	Fibronectin type-III 111.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R20066K(1)|p.R26436K(1)|p.R19941K(1)|p.R20133K(1)|p.R26438K(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGAATTCTCTCTCAGACCGGA	0.428000													17	27					0	0	0.204396	0	0
SAMD10	140700	broad.mit.edu	37	20	62608630	62608630	+	Missense_Mutation	SNP	G	G	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr20:62608630G>A	ENST00000369886.3	-	2	395	c.221C>T	c.(220-222)gCc>gTc	p.A74V	ZNF512B_ENST00000217130.3_Intron|ZNF512B_ENST00000450537.1_Intron|SAMD10_ENST00000498830.1_5'UTR	NM_080621.4	NP_542188.1	Q9BYL1	SAM10_HUMAN	sterile alpha motif domain containing 10	74								p.A74V(1)		kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	7	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CCTGCTGCTGGCCGCCCTCTG	0.672000													28	39					0	0	0.144211	0	0
KIAA1217	56243	broad.mit.edu	37	10	24762579	24762579	+	Silent	SNP	A	A	G			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr10:24762579A>G	ENST00000376451.2	+	2	683	c.423A>G	c.(421-423)gcA>gcG	p.A141A	KIAA1217_ENST00000307544.6_Silent_p.A141A|KIAA1217_ENST00000396446.1_Silent_p.A141A|KIAA1217_ENST00000376462.1_Silent_p.A343A|KIAA1217_ENST00000458595.1_Silent_p.A423A|KIAA1217_ENST00000430453.2_Silent_p.A344A|KIAA1217_ENST00000396445.1_Silent_p.A141A|KIAA1217_ENST00000376452.3_Silent_p.A423A|KIAA1217_ENST00000376454.3_Silent_p.A423A			Q5T5P2	SKT_HUMAN	KIAA1217	423					embryonic skeletal system development	cytoplasm		p.A423A(1)		breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						ACATCATTGCATATCACCGCA	0.502000													21	9					0	0	0.055883	0	0
MGAM	8972	broad.mit.edu	37	7	141750533	141750533	+	Nonsense_Mutation	SNP	A	A	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr7:141750533A>T	ENST00000475668.2	+	24	2728	c.2674A>T	c.(2674-2676)Aag>Tag	p.K892*	MGAM_ENST00000549489.2_Nonsense_Mutation_p.K892*			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	892	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.K892*(3)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ATCAACCTACAAGGACCCCAA	0.383000													16	30					0	0	0.132662	0	0
SLC9C2	284525	broad.mit.edu	37	1	173516881	173516881	+	Missense_Mutation	SNP	T	T	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr1:173516881T>A	ENST00000367714.3	-	13	1926	c.1504A>T	c.(1504-1506)Aca>Tca	p.T502S	SLC9C2_ENST00000466087.1_5'UTR|SLC9C2_ENST00000536496.1_Missense_Mutation_p.T400S	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	502					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity	p.T502S(1)									GCTTCATCTGTTGTGGATTCT	0.333000													12	32					0	0	0.083992	0	0
CEACAM18	729767	broad.mit.edu	37	19	51984864	51984864	+	Silent	SNP	A	A	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr19:51984864A>T	ENST00000396477.4	+	3	639	c.618A>T	c.(616-618)atA>atT	p.I206I	CEACAM18_ENST00000451626.1_Silent_p.I267I	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	267						integral to membrane		p.I267I(1)|p.I206I(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		AGTGCATGATAGAGAGTTTCC	0.537000													15	25					0	0	0.119110	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18435367	18435367	+	Nonsense_Mutation	SNP	C	C	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr12:18435367C>T	ENST00000433979.1	+	2	468	c.352C>T	c.(352-354)Caa>Taa	p.Q118*	RERGL_ENST00000541632.1_Intron|PIK3C2G_ENST00000266497.5_Nonsense_Mutation_p.Q118*|PIK3C2G_ENST00000538779.1_Nonsense_Mutation_p.Q118*|PIK3C2G_ENST00000535651.1_Nonsense_Mutation_p.Q118*	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	118					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	p.Q118*(2)		breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				ACCAAAACCTCAAAATACGAA	0.403000													10	56					0	0	0.069234	0	0
SPTA1	6708	broad.mit.edu	37	1	158624419	158624419	+	Silent	SNP	C	C	G			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr1:158624419C>G	ENST00000368148.3	-	21	3198	c.3018G>C	c.(3016-3018)ctG>ctC	p.L1006L	SPTA1_ENST00000368147.3_Silent_p.L1006L	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1006	SH3.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.L1006L(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGGAACTGAGCAGCGTTAAGA	0.453000													14	22					0	0	0.132662	0	0
PXDNL	137902	broad.mit.edu	37	8	52321964	52321964	+	Silent	SNP	G	G	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr8:52321964G>A	ENST00000356297.4	-	17	2320	c.2220C>T	c.(2218-2220)ccC>ccT	p.P740P	PXDNL_ENST00000543296.1_Silent_p.P740P	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	740					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	p.P740P(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CGCCCCACGTGGGCTGCTGCA	0.711000													15	12					0	0	0.146539	0	0
TRIT1	54802	broad.mit.edu	37	1	40307580	40307580	+	Missense_Mutation	SNP	T	T	C			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr1:40307580T>C	ENST00000316891.5	-	11	1254	c.1240A>G	c.(1240-1242)Ata>Gta	p.I414V	TRIT1_ENST00000441669.2_Missense_Mutation_p.I332V|TRIT1_ENST00000545233.1_Missense_Mutation_p.I168V|TRIT1_ENST00000541099.1_Missense_Mutation_p.I32V|TRIT1_ENST00000537440.1_Missense_Mutation_p.I110V|TRIT1_ENST00000537223.1_Missense_Mutation_p.I110V|TRIT1_ENST00000372818.1_Missense_Mutation_p.I388V|TRIT1_ENST00000491865.1_5'UTR	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1	414					tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity	p.I414V(1)		breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TTGGATTTTATGTGCGCTGAT	0.343000													5	44					0	0	0.038147	0	0
ANO4	121601	broad.mit.edu	37	12	101442127	101442127	+	Missense_Mutation	SNP	C	C	A	rs140890653		TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr12:101442127C>A	ENST00000392979.3	+	13	1516	c.1155C>A	c.(1153-1155)caC>caA	p.H385Q	ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000392977.3_Missense_Mutation_p.H420Q|ANO4_ENST00000550015.1_5'UTR	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	420						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						AGGTAACCCACCTTTTTGACA	0.348000										HNSCC(74;0.22)			7	44					1.26484e-09	1.55395e-09	0.038147	1	0
CFHR4	10877	broad.mit.edu	37	1	196871560	196871560	+	Missense_Mutation	SNP	G	G	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr1:196871560G>T	ENST00000367416.2	+	2	205	c.68G>T	c.(67-69)tGt>tTt	p.C23F	CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000251424.4_Missense_Mutation_p.C24F|CFHR4_ENST00000367418.1_Intron	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4									p.C23F(1)|p.C24F(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						GTGAAACCTTGTGATTTTCCA	0.279000													55	49					6.09941e-20	8.67574e-20	0.139131	1	0
ZC3H18	124245	broad.mit.edu	37	16	88694395	88694395	+	Silent	SNP	C	C	G			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr16:88694395C>G	ENST00000301011.5	+	15	2537	c.2337C>G	c.(2335-2337)ccC>ccG	p.P779P	ZC3H18_ENST00000452588.2_Silent_p.P803P	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	779						nucleus	nucleic acid binding|zinc ion binding	p.P779P(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		CACAACCACCCAAATCTGCAA	0.562000													21	59					0	0	0.062417	0	0
SEC22A	26984	broad.mit.edu	37	3	122928165	122928165	+	Missense_Mutation	SNP	G	G	C			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr3:122928165G>C	ENST00000309934.4	+	1	997	c.101G>C	c.(100-102)aGa>aCa	p.R34T	SEC22A_ENST00000477063.1_3'UTR|SEC22A_ENST00000481965.2_Missense_Mutation_p.R34T|SEC22A_ENST00000492595.1_Missense_Mutation_p.R34T	NM_012430.4	NP_036562.2	Q96IW7	SC22A_HUMAN	SEC22 vesicle trafficking protein homolog A (S. cerevisiae)	34	Longin.				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|integral to membrane	transporter activity	p.R34T(1)		NS(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	10				GBM - Glioblastoma multiforme(114;0.0548)		CAGGAGTGCAGAAAGTATTTT	0.378000													11	67					0	0	0.080935	0	0
TAAR5	9038	broad.mit.edu	37	6	132909899	132909899	+	Nonsense_Mutation	SNP	G	G	T	rs144431699	by1000genomes	TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr6:132909899G>T	ENST00000258034.2	-	1	978	c.927C>A	c.(925-927)taC>taA	p.Y309*		NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN	trace amine associated receptor 5	309					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity	p.Y309*(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		GAAACCACTGGTAGGAAAAGA	0.463000													18	27					5.03518e-11	6.50039e-11	0.189662	1	0
IGKV1-5	28299	broad.mit.edu	37	2	89247082	89247082	+	RNA	SNP	G	G	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr2:89247082G>T	ENST00000496168.1	-	0	268																											AGGGTGGAAGGAGACTGGGTC	0.453000													25	83					2.41591e-17	3.3932e-17	0.099896	1	0
MAP9	79884	broad.mit.edu	37	4	156289877	156289877	+	Missense_Mutation	SNP	T	T	C			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr4:156289877T>C	ENST00000311277.4	-	5	832	c.569A>G	c.(568-570)gAg>gGg	p.E190G	AC097467.2_ENST00000597831.1_RNA|MAP9_ENST00000515654.1_Missense_Mutation_p.E190G|MAP9_ENST00000379248.2_Missense_Mutation_p.E117G|AC097467.2_ENST00000596165.1_RNA	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	190					cell division|mitosis	cytoplasm|microtubule|spindle		p.E190G(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		TCCATCCTTCTCCTCCATGTG	0.408000													40	19					0	0	0.139131	0	0
GPRC6A	222545	broad.mit.edu	37	6	117128030	117128030	+	Nonsense_Mutation	SNP	G	G	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr6:117128030G>A	ENST00000310357.3	-	3	859	c.838C>T	c.(838-840)Caa>Taa	p.Q280*	GPRC6A_ENST00000530250.1_Intron|GPRC6A_ENST00000368549.3_Nonsense_Mutation_p.Q280*	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	280					response to amino acid stimulus		G-protein coupled receptor activity	p.Q280*(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		ACATGGAATTGCCTCAGAAAT	0.353000													8	14					0	0	0.038147	0	0
PRR12	57479	broad.mit.edu	37	19	50099342	50099342	+	Nonsense_Mutation	SNP	G	G	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr19:50099342G>T	ENST00000418929.2	+	4	1762	c.1750G>T	c.(1750-1752)Gga>Tga	p.G584*		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	348	Pro-rich.						DNA binding	p.G584*(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CGGCTCTCCAGGAGCCCCTGG	0.667000													30	70					1.66425e-11	2.16857e-11	0.214465	1	0
LRRC37A3	374819	broad.mit.edu	37	17	62856473	62856473	+	Missense_Mutation	SNP	G	G	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr17:62856473G>A	ENST00000584306.1	-	11	4321	c.3791C>T	c.(3790-3792)gCc>gTc	p.A1264V	LRRC37A3_ENST00000339474.5_Missense_Mutation_p.A382V|LRRC37A3_ENST00000334962.5_Missense_Mutation_p.A241V|LRRC37A3_ENST00000319651.5_Missense_Mutation_p.A1264V|LRRC37A3_ENST00000400877.3_Missense_Mutation_p.A302V	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1264						integral to membrane		p.A1264V(1)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						CTGTGGTAGGGCTTTTGCAGG	0.488000													16	32					0	0	0.204396	0	0
KIF1A	547	broad.mit.edu	37	2	241697805	241697805	+	Missense_Mutation	SNP	G	G	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr2:241697805G>T	ENST00000498729.2	-	26	2800	c.2554C>A	c.(2554-2556)Cgc>Agc	p.R852S	KIF1A_ENST00000320389.7_Missense_Mutation_p.R843S	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	843					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	p.R843S(1)		NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CAGGGGAAGCGGTCATAGAAG	0.632000													13	14					2.61681e-11	3.39397e-11	0.119110	1	0
ZIM2	23619	broad.mit.edu	37	19	57286693	57286693	+	Missense_Mutation	SNP	G	G	C			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr19:57286693G>C	ENST00000391708.3	-	12	1489	c.947C>G	c.(946-948)aCg>aGg	p.T316R	ZIM2_ENST00000593711.1_Missense_Mutation_p.T316R|AC006115.3_ENST00000597946.1_RNA|AC006115.3_ENST00000595954.1_RNA|AC006115.3_ENST00000594400.1_RNA|ZIM2_ENST00000599935.1_Missense_Mutation_p.T316R|ZIM2_ENST00000601070.1_Missense_Mutation_p.T316R|ZIM2_ENST00000221722.5_Missense_Mutation_p.T316R	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1			zinc finger, imprinted 2									p.T316R(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		CTGGGGACTCGTACATATTCC	0.448000													12	74					0	0	0.080935	0	0
WDR66	144406	broad.mit.edu	37	12	122396983	122396983	+	Nonsense_Mutation	SNP	C	C	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr12:122396983C>T	ENST00000288912.4	+	13	2970	c.2116C>T	c.(2116-2118)Cag>Tag	p.Q706*	WDR66_ENST00000397454.2_Nonsense_Mutation_p.Q706*	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	706							calcium ion binding	p.Q706*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		CCATGACTCCCAGTATATGGC	0.393000													13	97					0	0	0.119110	0	0
JAK3	3718	broad.mit.edu	37	19	17949156	17949156	+	Silent	SNP	G	G	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr19:17949156G>A	ENST00000458235.1	-	11	1584	c.1485C>T	c.(1483-1485)ccC>ccT	p.P495P	JAK3_ENST00000534444.1_Silent_p.P495P|JAK3_ENST00000526008.1_5'UTR|JAK3_ENST00000527670.1_Silent_p.P495P	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN	Janus kinase 3	495					B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.P495P(2)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						AGGATGATGTGGGTGGGCTGT	0.527000		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""								59	25					0	0	0.139131	0	0
ZNF573	126231	broad.mit.edu	37	19	38230451	38230451	+	Missense_Mutation	SNP	C	C	G			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr19:38230451C>G	ENST00000339503.4	-	8	1267	c.766G>C	c.(766-768)Ggt>Cgt	p.G256R	ZNF573_ENST00000590414.2_Missense_Mutation_p.G314R|ZNF573_ENST00000392138.1_Missense_Mutation_p.G227R|ZNF573_ENST00000536220.1_Missense_Mutation_p.G226R|ZNF573_ENST00000357309.3_Missense_Mutation_p.G226R	NM_152360.3	NP_689573.3	Q86YE8	ZN573_HUMAN	zinc finger protein 573	294					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G256R(1)		NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			AGCTGGTGACCTCTTCTAAAG	0.418000													56	71					0	0	0.139131	0	0
PAPPA2	60676	broad.mit.edu	37	1	176564366	176564366	+	Silent	SNP	G	G	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr1:176564366G>T	ENST00000367662.3	+	3	2790	c.1626G>T	c.(1624-1626)gtG>gtT	p.V542V	PAPPA2_ENST00000367661.3_Silent_p.V542V	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	542	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.V542V(2)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						ACCCCATTGTGAGTGAGGAGC	0.547000													19	25					7.41877e-09	8.8236e-09	0.062417	1	0
OR10V1	390201	broad.mit.edu	37	11	59481123	59481123	+	Missense_Mutation	SNP	G	G	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr11:59481123G>T	ENST00000307552.2	-	1	214	c.196C>A	c.(196-198)Ctg>Atg	p.L66M	STX3_ENST00000300150.7_5'UTR	NM_001005324.1	NP_001005324.1	Q8NGI7	O10V1_HUMAN	olfactory receptor, family 10, subfamily V, member 1	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L66M(1)		endometrium(1)|large_intestine(3)|liver(1)|lung(10)|skin(1)	16						AGAACTGCCAGATTAGCCAGG	0.463000													4	6					0.150653	0.152288	0.150653	1	0
CHD7	55636	broad.mit.edu	37	8	61778121	61778121	+	Missense_Mutation	SNP	G	G	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr8:61778121G>T	ENST00000423902.2	+	38	9102	c.8623G>T	c.(8623-8625)Ggt>Tgt	p.G2875C	CHD7_ENST00000524602.1_Missense_Mutation_p.G826C	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2875					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	p.G2875C(2)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TGGATCTGTTGGTGCTGCTAC	0.522000													23	14					4.16121e-05	4.52552e-05	0.076483	1	0
NOS1AP	9722	broad.mit.edu	37	1	162124198	162124198	+	Missense_Mutation	SNP	G	G	T	rs141560292		TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr1:162124198G>T	ENST00000361897.5	+	2	511	c.109G>T	c.(109-111)Gta>Tta	p.V37L	NOS1AP_ENST00000530878.1_Missense_Mutation_p.V37L	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	37	PID.				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding	p.V37L(2)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			CCCACAGTACGTAGGAAGCCT	0.577000													7	20					0.00198382	0.00208059	0.029380	1	0
SACS	26278	broad.mit.edu	37	13	23914212	23914212	+	Missense_Mutation	SNP	T	T	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr13:23914212T>A	ENST00000382298.3	-	10	4391	c.3803A>T	c.(3802-3804)gAt>gTt	p.D1268V	SACS_ENST00000382292.3_Missense_Mutation_p.D1268V|SACS_ENST00000402364.1_Missense_Mutation_p.D518V	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	1268					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	p.D1268V(1)|p.D1121V(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TCTAAAAGAATCTTTCCCTTC	0.368000													12	11					0	0	0.080935	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857330	9857330	+	Silent	SNP	G	G	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr16:9857330G>T	ENST00000396573.2	-	14	4380	c.4071C>A	c.(4069-4071)ctC>ctA	p.L1357L	GRIN2A_ENST00000535259.1_Intron|GRIN2A_ENST00000396575.2_Silent_p.L1357L|GRIN2A_ENST00000330684.3_Silent_p.L1357L|GRIN2A_ENST00000562109.1_Intron|GRIN2A_ENST00000404927.2_Intron	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1357					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.L1357L(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GGTCTGGCAAGAGAGACTTGC	0.537000													20	10					1.50039e-11	1.95962e-11	0.062417	1	0
MACF1	23499	broad.mit.edu	37	1	39801748	39801748	+	Missense_Mutation	SNP	C	C	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr1:39801748C>A	ENST00000564288.1	+	37	10265	c.9488C>A	c.(9487-9489)tCc>tAc	p.S3163Y	MACF1_ENST00000476350.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.S3200Y|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.S1603Y|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000372915.3_Missense_Mutation_p.S3168Y			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3168					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	p.S1603Y(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CATCAAATTTCCTCATCTAAT	0.378000													6	35					2.0095e-06	2.25564e-06	0.029380	1	0
ATG13	9776	broad.mit.edu	37	11	46677781	46677781	+	Splice_Site	SNP	A	A	G			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr11:46677781A>G	ENST00000434074.1	+	7	1147		c.e7-1		ATG13_ENST00000524625.1_Splice_Site|ATG13_ENST00000526508.1_Splice_Site|ATG13_ENST00000529655.1_Splice_Site|ATG13_ENST00000528494.1_Splice_Site|ATG13_ENST00000530500.1_Splice_Site|ATG13_ENST00000359513.4_Splice_Site|ATG13_ENST00000312040.4_Splice_Site|ATG13_ENST00000451945.1_Splice_Site	NM_001205120.1	NP_001192049.1	O75143	ATG13_HUMAN	autophagy related 13						autophagic vacuole assembly	cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding	p.?(2)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	15						TCTTCCATACAGGATATATTT	0.373000													26	38					0	0	0.125774	0	0
ZNF638	27332	broad.mit.edu	37	2	71590292	71590292	+	Silent	SNP	T	T	C			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr2:71590292T>C	ENST00000409544.1	+	4	2019	c.1389T>C	c.(1387-1389)gaT>gaC	p.D463D	ZNF638_ENST00000377802.2_Silent_p.D463D|ZNF638_ENST00000355812.3_Silent_p.D463D|ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000264447.4_Silent_p.D463D	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	463					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding	p.D463D(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						GGTATCCTGATTGGAATCCTG	0.264000													14	21					0	0	0.132662	0	0
FOXN3	1112	broad.mit.edu	37	14	89647120	89647120	+	Missense_Mutation	SNP	C	C	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr14:89647120C>A	ENST00000345097.4	-	6	958	c.842G>T	c.(841-843)cGg>cTg	p.R281L	FOXN3_ENST00000261302.5_Missense_Mutation_p.R281L|FOXN3_ENST00000557258.1_Missense_Mutation_p.R259L|FOXN3_ENST00000555353.1_Missense_Mutation_p.R259L	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN	forkhead box N3	281					DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.R281L(1)|p.R259L(1)		endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GCTCAGGACCCGCGCTCCATT	0.567000													17	23					1.99824e-07	2.29838e-07	0.160694	1	0
ANKFN1	162282	broad.mit.edu	37	17	54555015	54555015	+	Splice_Site	SNP	G	G	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr17:54555015G>T	ENST00000566473.2	+	15	1949	c.1949_splice	c.e15+1	p.R650_splice	ANKFN1_ENST00000318698.2_Splice_Site_p.R650_splice			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	650								p.R650I(1)		NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						AATATTTCTAGGTAAGTGATC	0.423000													18	40					5.35267e-07	6.08159e-07	0.189662	1	0
MYH4	4622	broad.mit.edu	37	17	10366498	10366498	+	Silent	SNP	T	T	C			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr17:10366498T>C	ENST00000255381.2	-	10	923	c.813A>G	c.(811-813)ctA>ctG	p.L271L	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	271	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.L271L(1)		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						GGGACTTCTCTAGCAGATCTG	0.353000													39	15					0	0	0.124865	0	0
IPMK	253430	broad.mit.edu	37	10	59997554	59997554	+	Missense_Mutation	SNP	C	C	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr10:59997554C>A	ENST00000373935.3	-	2	534	c.212G>T	c.(211-213)gGc>gTc	p.G71V		NM_152230.4	NP_689416.1	Q8NFU5	IPMK_HUMAN	inositol polyphosphate multikinase	71						nucleus	ATP binding|inositol trisphosphate 6-kinase activity	p.G71F(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)	22						CAAAACTGTGCCATCTGGATG	0.353000													20	15					3.62473e-10	4.53294e-10	0.062417	1	0
SERINC3	10955	broad.mit.edu	37	20	43138621	43138621	+	Missense_Mutation	SNP	T	T	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr20:43138621T>A	ENST00000342374.4	-	5	681	c.524A>T	c.(523-525)cAg>cTg	p.Q175L	SERINC3_ENST00000541235.1_Missense_Mutation_p.Q120L|SERINC3_ENST00000255175.1_Missense_Mutation_p.Q175L	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	175						integral to membrane|plasma membrane	protein binding	p.Q175L(1)		endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			CAGCACCAGCTGAATGAGGAT	0.438000													25	60					0	0	0.091800	0	0
TTN	7273	broad.mit.edu	37	2	179553472	179553472	+	Missense_Mutation	SNP	T	T	C			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr2:179553472T>C	ENST00000589042.1	-	126	32353	c.32129A>G	c.(32128-32130)aAg>aGg	p.K10710R	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.K10393R|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.K9466R|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10393	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.K9466R(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACAAATCTCTTTTCTTCTAC	0.348000													21	32					0	0	0.069288	0	0
COL11A2	1302	broad.mit.edu	37	6	33156808	33156808	+	Silent	SNP	C	C	G	rs149638770	byFrequency	TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr6:33156808C>G	ENST00000341947.2	-	3	617	c.390G>C	c.(388-390)cgG>cgC	p.R130R	COL11A2_ENST00000395194.1_Silent_p.R130R|COL11A2_ENST00000357486.1_Silent_p.R130R|COL11A2_ENST00000374714.1_Silent_p.R130R|COL11A2_ENST00000361917.1_Silent_p.R130R|COL11A2_ENST00000395197.1_Silent_p.R130R|COL11A2_ENST00000374708.4_Silent_p.R130R|COL11A2_ENST00000374713.1_Silent_p.R130R|COL11A2_ENST00000374712.1_Silent_p.R130R	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	130	TSP N-terminal.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	p.R130L(1)		biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GAGGTTGAGGCCGCCCAGTCT	0.607000													25	114					0	0	0.091800	0	0
ZFP57	346171	broad.mit.edu	37	6	29640292	29640292	+	Missense_Mutation	SNP	G	G	C			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr6:29640292G>C	ENST00000376883.1	-	6	1947	c.1536C>G	c.(1534-1536)atC>atG	p.I512M	ZFP57_ENST00000376881.3_Missense_Mutation_p.I512M|ZFP57_ENST00000488757.1_Missense_Mutation_p.I532M			Q9NU63	ZFP57_HUMAN	ZFP57 zinc finger protein	448					DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding	p.I512M(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						TATGTTTCAAGATGCTCACTG	0.483000													20	86					0	0	0.055883	0	0
KIAA1549L	25758	broad.mit.edu	37	11	33689482	33689482	+	Missense_Mutation	SNP	A	A	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr11:33689482A>T	ENST00000321505.4	+	20	5512	c.5332A>T	c.(5332-5334)Agg>Tgg	p.R1778W	RP4-541C22.5_ENST00000534431.1_RNA|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.R1784W					KIAA1549-like									p.R1778W(1)									CTCTCCCTCCAGGCTTCCTCG	0.687000													5	15					0	0	0.184627	0	0
REG1B	5968	broad.mit.edu	37	2	79313955	79313955	+	Missense_Mutation	SNP	T	T	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr2:79313955T>A	ENST00000305089.3	-	3	246	c.166A>T	c.(166-168)Acc>Tcc	p.T56S		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	56	C-type lectin.				cell proliferation	extracellular region	sugar binding	p.T56S(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						TCAACCCAGGTCTCAGGGTCT	0.532000													7	100					0	0	0.038147	0	0
OR14I1	401994	broad.mit.edu	37	1	248844994	248844994	+	Silent	SNP	C	C	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr1:248844994C>T	ENST00000342623.3	-	1	635	c.612G>A	c.(610-612)ttG>ttA	p.L204L		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L204L(1)		NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						ATCCCAGAACCAAGCATGAGC	0.478000													12	22					0	0	0.080935	0	0
MYB	4602	broad.mit.edu	37	6	135521439	135521439	+	Silent	SNP	C	C	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr6:135521439C>T	ENST00000341911.5	+	13	2035	c.1836C>T	c.(1834-1836)ccC>ccT	p.P612P	MYB_ENST00000534121.1_Silent_p.P596P|MYB_ENST00000527615.1_Silent_p.P491P|MYB_ENST00000531845.1_3'UTR|MYB_ENST00000316528.8_Silent_p.P491P|MYB_ENST00000533624.1_Silent_p.P456P|MYB_ENST00000534044.1_Silent_p.P491P|MYB_ENST00000525369.1_Silent_p.P406P|MYB_ENST00000528774.1_Silent_p.P609P|MYB_ENST00000367814.4_Silent_p.P491P|MYB_ENST00000442647.2_Silent_p.P488P	NM_001130173.1|NM_001161656.1|NM_001161658.1	NP_001123645.1|NP_001155128.1|NP_001155130.1	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog	520					blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding	p.P491P(1)|p.P612P(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		CTCAGACACCCTCTCATCTAG	0.393000			T	NFIB	adenoid cystic carcinoma								19	34					0	0	0.062417	0	0
KDM6B	23135	broad.mit.edu	37	17	7752684	7752684	+	Silent	SNP	G	G	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr17:7752684G>A	ENST00000254846.5	+	11	3467	c.3078G>A	c.(3076-3078)gaG>gaA	p.E1026E	KDM6B_ENST00000448097.2_Silent_p.E1026E	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1026					inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.E1026E(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						TGCAGAGCGAGGAGATCCAGG	0.667000													13	14					0	0	0.175082	0	0
APOL2	23780	broad.mit.edu	37	22	36629211	36629211	+	Missense_Mutation	SNP	T	T	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr22:36629211T>A	ENST00000451256.2	-	4	342	c.334A>T	c.(334-336)Acc>Tcc	p.T112S	APOL2_ENST00000358502.5_5'UTR|APOL2_ENST00000249066.6_5'UTR			Q9BQE5	APOL2_HUMAN	apolipoprotein L, 2	0					acute-phase response|cholesterol metabolic process|lipid transport|lipoprotein metabolic process|maternal process involved in female pregnancy|multicellular organismal development	endoplasmic reticulum membrane|extracellular region	high-density lipoprotein particle binding|lipid binding|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(2)	9						GGGTTCATGGTGCCAGCGGCT	0.542000													47	30					0	0	0.139131	0	0
CSNK1A1L	122011	broad.mit.edu	37	13	37678436	37678436	+	Missense_Mutation	SNP	G	G	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr13:37678436G>T	ENST00000379800.3	-	1	1367	c.958C>A	c.(958-960)Caa>Aaa	p.Q320K		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	320					Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	p.Q320K(1)		NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		GTCTGGGTTTGGGCCTGCTGA	0.468000													29	22					0.000184323	0.000198148	0.125774	1	0
SHMT2	6472	broad.mit.edu	37	12	57627019	57627019	+	Missense_Mutation	SNP	G	G	T	rs139092594		TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr12:57627019G>T	ENST00000328923.3	+	8	1366	c.914G>T	c.(913-915)cGg>cTg	p.R305L	SHMT2_ENST00000553474.1_Missense_Mutation_p.R284L|SHMT2_ENST00000449049.3_Missense_Mutation_p.R284L|SHMT2_ENST00000393827.4_Missense_Mutation_p.R209L|SHMT2_ENST00000414700.3_Missense_Mutation_p.R284L|SHMT2_ENST00000557487.1_Missense_Mutation_p.R295L	NM_001166356.1|NM_005412.5	NP_001159828.1|NP_005403.2	P34897	GLYM_HUMAN	serine hydroxymethyltransferase 2 (mitochondrial)	305						microtubule cytoskeleton|mitochondrial nucleoid	glycine hydroxymethyltransferase activity|methyltransferase activity	p.R305L(1)		breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15					Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	AAGACTGGCCGGGAGATCCCT	0.562000													7	34					1.26484e-09	1.55395e-09	0.038147	1	0
SLC29A3	55315	broad.mit.edu	37	10	73111446	73111446	+	Missense_Mutation	SNP	T	T	C			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr10:73111446T>C	ENST00000373189.5	+	4	563	c.511T>C	c.(511-513)Tgc>Cgc	p.C171R	SLC29A3_ENST00000469204.1_3'UTR	NM_001174098.1|NM_018344.5	NP_001167569.1|NP_060814.4	Q9BZD2	S29A3_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 3	171					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|late endosome membrane|lysosomal membrane	nucleoside transmembrane transporter activity	p.C171R(1)		endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						CACCATTGTCTGCATGGTGAT	0.552000													31	7					0	0	0.214465	0	0
SETX	23064	broad.mit.edu	37	9	135206681	135206681	+	Missense_Mutation	SNP	T	T	C			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr9:135206681T>C	ENST00000372169.2	-	8	1175	c.993A>G	c.(991-993)atA>atG	p.I331M	SETX_ENST00000393220.1_Missense_Mutation_p.I331M|SETX_ENST00000224140.5_Missense_Mutation_p.I331M			Q7Z333	SETX_HUMAN	senataxin	331					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	p.I331M(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		AGCTGTTCCGTATATGTCGGA	0.398000													30	27					0	0	0.134883	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123206000	123206000	+	Missense_Mutation	SNP	C	C	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr9:123206000C>A	ENST00000349780.4	-	23	3225	c.3046G>T	c.(3046-3048)Gcc>Tcc	p.A1016S	CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.A1016S|CDK5RAP2_ENST00000359309.3_Intron|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.A984S	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1016	Interaction with MAPRE1.				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding	p.A1016S(1)		breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						TCCTGGTAGGCTGCTCCCACA	0.453000													24	18					7.88262e-20	1.11837e-19	0.083992	1	0
CHTF18	63922	broad.mit.edu	37	16	844112	844112	+	Missense_Mutation	SNP	G	G	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr16:844112G>A	ENST00000455171.2	+	14	2006	c.1945G>A	c.(1945-1947)Gac>Aac	p.D649N	CHTF18_ENST00000317063.6_Intron|CHTF18_ENST00000262315.9_Missense_Mutation_p.D621N			Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)	621					cell cycle|DNA replication	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity	p.D621N(1)		endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				GGGTGACGGGGACGCGGGCTC	0.657000													37	8					0	0	0.080422	0	0
C10orf2	56652	broad.mit.edu	37	10	102748989	102748989	+	Missense_Mutation	SNP	G	G	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr10:102748989G>T	ENST00000370228.1	+	1	1207	c.1022G>T	c.(1021-1023)cGt>cTt	p.R341L	C10orf2_ENST00000311916.2_Missense_Mutation_p.R341L|C10orf2_ENST00000473656.1_Intron	NM_001163812.1|NM_001163814.1	NP_001157284.1|NP_001157286.1	Q96RR1	PEO1_HUMAN	chromosome 10 open reading frame 2	341					cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding	p.R341L(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		CAGCAACCCCGTCCCCTGGAG	0.577000													28	11					1.08312e-15	1.49497e-15	0.144211	1	0
ZNF382	84911	broad.mit.edu	37	19	37117262	37117262	+	Missense_Mutation	SNP	A	A	G			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr19:37117262A>G	ENST00000435416.1	+	3	1955	c.460A>G	c.(460-462)Agc>Ggc	p.S154G	ZNF382_ENST00000423582.1_Missense_Mutation_p.S106G|ZNF382_ENST00000292928.2_Missense_Mutation_p.S155G|ZNF382_ENST00000439428.1_Missense_Mutation_p.S154G			Q96SR6	ZN382_HUMAN	zinc finger protein 382	155	Represses transcription (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S155G(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TAGAAATATAAGCCCCATAAA	0.343000													25	129					0	0	0.108266	0	0
SIM1	6492	broad.mit.edu	37	6	100838549	100838549	+	Silent	SNP	C	C	T	rs151274826		TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr6:100838549C>T	ENST00000369208.3	-	12	2771	c.1989G>A	c.(1987-1989)tcG>tcA	p.S663S	SIM1_ENST00000262901.4_Silent_p.S663S			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	663	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.S663S(1)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		AAATGCGATCCGAATTGGGAC	0.458000													26	91					0	0	0.116897	0	0
MGEA5	10724	broad.mit.edu	37	10	103567562	103567562	+	Missense_Mutation	SNP	G	G	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr10:103567562G>A	ENST00000361464.3	-	5	972	c.577C>T	c.(577-579)Cat>Tat	p.H193Y	MGEA5_ENST00000370094.3_Missense_Mutation_p.H193Y|MGEA5_ENST00000419011.2_3'UTR|MGEA5_ENST00000439817.1_Missense_Mutation_p.H193Y|MGEA5_ENST00000357797.5_Missense_Mutation_p.H193Y	NM_012215.3	NP_036347.1	O60502	NCOAT_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	193					glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity	p.H193Y(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		ACTTGGGCATGAGCAAAAGAA	0.393000													58	31					0	0	0.139131	0	0
RFX4	5992	broad.mit.edu	37	12	107080751	107080751	+	Missense_Mutation	SNP	C	C	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr12:107080751C>A	ENST00000392842.1	+	6	881	c.467C>A	c.(466-468)aCg>aAg	p.T156K	RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000229387.5_Missense_Mutation_p.T62K|RFX4_ENST00000357881.4_Missense_Mutation_p.T165K	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	156					transcription, DNA-dependent	nucleus	DNA binding	p.T156K(1)|p.T165K(1)|p.T62K(1)		NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						GTGAGTGAGACGGGCAAGAAA	0.463000													14	72					6.31663e-08	7.35624e-08	0.132662	1	0
HTR6	3362	broad.mit.edu	37	1	19992706	19992706	+	Missense_Mutation	SNP	G	G	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr1:19992706G>T	ENST00000289753.1	+	1	927	c.460G>T	c.(460-462)Gcc>Tcc	p.A154S		NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	154					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding	p.A154S(1)		endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)	CTGGAGCCTCGCCGCTCTCGC	0.731000													15	22					0.000422831	0.000451074	0.146539	1	0
GIMAP6	474344	broad.mit.edu	37	7	150325196	150325196	+	Silent	SNP	G	G	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr7:150325196G>T	ENST00000328902.5	-	3	706	c.490C>A	c.(490-492)Cgg>Agg	p.R164R	GIMAP6_ENST00000493969.1_3'UTR	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	164							GTP binding	p.R164R(1)		endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCTTCCTTCCGGGTGAACACC	0.617000													77	122					9.25274e-37	1.4017e-36	0.139131	1	0
NLRP14	338323	broad.mit.edu	37	11	7059854	7059854	+	Missense_Mutation	SNP	T	T	C			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr11:7059854T>C	ENST00000299481.4	+	2	383	c.37T>C	c.(37-39)Ttt>Ctt	p.F13L		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	13	DAPIN.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	p.F13L(1)		breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		CTTTCCTGATTTTGGGCTGCT	0.398000													17	55					0	0	0.175082	0	0
DVL1	1855	broad.mit.edu	37	1	1277441	1277441	+	Missense_Mutation	SNP	C	C	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr1:1277441C>T	ENST00000378888.5	-	4	742	c.458G>A	c.(457-459)cGc>cAc	p.R153H	DVL1_ENST00000378891.5_Missense_Mutation_p.R153H			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	153					canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity	p.R153H(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		ACCCTCCTCGCGGTTCCGGCG	0.652000													2	2					0	0	0.115264	0	0
MYH11	4629	broad.mit.edu	37	16	15811192	15811192	+	Missense_Mutation	SNP	C	C	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr16:15811192C>T	ENST00000338282.6	-	38	5415	c.5309G>A	c.(5308-5310)aGc>aAc	p.S1770N	NDE1_ENST00000396355.1_Intron|MYH11_ENST00000300036.5_Missense_Mutation_p.S1770N|MYH11_ENST00000576790.1_Missense_Mutation_p.S1770N|NDE1_ENST00000342673.5_Intron|MYH11_ENST00000452625.2_Missense_Mutation_p.S1777N|NDE1_ENST00000396354.1_Intron|MYH11_ENST00000396324.3_Missense_Mutation_p.S1777N	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1770					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	p.S1770N(1)|p.S1777N(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CAGCTCGTTGCTGAGCTGCTC	0.637000			T	CBFB	AML								34	19					0	0	0.163468	0	0
OR4K13	390433	broad.mit.edu	37	14	20502513	20502513	+	Silent	SNP	G	G	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr14:20502513G>T	ENST00000315693.2	-	1	406	c.405C>A	c.(403-405)atC>atA	p.I135I		NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I135I(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		GTGGGCTCATGATGGTCATGT	0.478000													15	183					2.32078e-09	2.82026e-09	0.132662	1	0
SPOP	8405	broad.mit.edu	37	17	47696724	47696724	+	Missense_Mutation	SNP	C	C	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr17:47696724C>A	ENST00000393331.3	-	6	694	c.224G>T	c.(223-225)gGg>gTg	p.G75V	SPOP_ENST00000393328.2_Missense_Mutation_p.G75V|SPOP_ENST00000503676.1_Missense_Mutation_p.G75V|SPOP_ENST00000504102.1_Missense_Mutation_p.G75V|SPOP_ENST00000513080.1_5'UTR|SPOP_ENST00000347630.2_Missense_Mutation_p.G75V	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	75	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding	p.G75L(1)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						TTCATCTAACCCTTTGGGGTT	0.393000										Prostate(2;0.17)			9	27					3.09899e-07	3.54986e-07	0.047766	1	0
NLGN1	22871	broad.mit.edu	37	3	173993119	173993119	+	Missense_Mutation	SNP	G	G	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr3:173993119G>A	ENST00000457714.1	+	5	1090	c.661G>A	c.(661-663)Ggc>Agc	p.G221S	NLGN1_ENST00000361589.4_Missense_Mutation_p.G221S|NLGN1_ENST00000545397.1_Missense_Mutation_p.G221S|NLGN1_ENST00000466350.1_3'UTR|NLGN1_ENST00000401917.3_Missense_Mutation_p.G261S	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	238					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	p.G221S(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			CTTGAGTACAGGCGATCAGGC	0.373000													56	41					0	0	0.139131	0	0
GXYLT1	283464	broad.mit.edu	37	12	42499835	42499835	+	Missense_Mutation	SNP	C	C	G			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr12:42499835C>G	ENST00000398675.3	-	5	881	c.649G>C	c.(649-651)Gac>Cac	p.D217H	GXYLT1_ENST00000280876.6_Missense_Mutation_p.D186H	NM_001099650.1|NM_173601.1	NP_001093120.1|NP_775872.1	Q4G148	GXLT1_HUMAN	glucoside xylosyltransferase 1	217					O-glycan processing	integral to membrane	UDP-xylosyltransferase activity	p.D186H(1)|p.D217H(1)		kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						ATATCAGTGTCGACATACAAT	0.318000													8	44					0	0	0.047766	0	0
CFAP54	144535	broad.mit.edu	37	12	97158003	97158003	+	Missense_Mutation	SNP	G	G	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr12:97158003G>T	ENST00000524981.3	+	26	3468	c.3468G>T	c.(3466-3468)tgG>tgT	p.W1156C				Q6ZTY8	CL063_HUMAN		1130								p.W1130C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						CATTAGCCTGGATTGCAATAA	0.343000													13	8					1.36491e-13	1.83852e-13	0.105934	1	0
LOXL4	84171	broad.mit.edu	37	10	100015439	100015439	+	Missense_Mutation	SNP	G	G	A	rs149982668		TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr10:100015439G>A	ENST00000260702.3	-	10	1636	c.1486C>T	c.(1486-1488)Cgc>Tgc	p.R496C	RP11-34A14.3_ENST00000433374.1_RNA	NM_032211.6	NP_115587.6	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4	496	SRCR 4.					extracellular space|membrane	copper ion binding|protein binding|scavenger receptor activity	p.R496C(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		CCTGAGCAGCGCACCCCACTC	0.662000													16	35					0	0	0.132662	0	0
COL4A2	1284	broad.mit.edu	37	13	111134904	111134904	+	Missense_Mutation	SNP	C	C	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr13:111134904C>A	ENST00000360467.5	+	32	3106	c.2800C>A	c.(2800-2802)Cct>Act	p.P934T		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	934	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	p.P934T(1)		NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CCAAGGCATGCCTGGACTCAA	0.507000													85	59					1.68737e-39	2.56315e-39	0.139131	1	0
CDH23	64072	broad.mit.edu	37	10	73567303	73567303	+	Missense_Mutation	SNP	A	A	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr10:73567303A>T	ENST00000224721.6	+	58	8359	c.8354A>T	c.(8353-8355)cAg>cTg	p.Q2785L	CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Missense_Mutation_p.Q540L	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2780	Cadherin 26.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	p.Q2785L(1)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TTCCATCTGCAGCCCGATGGG	0.612000													4	23					0	0	0.029380	0	0
LMAN1L	79748	broad.mit.edu	37	15	75108976	75108976	+	Missense_Mutation	SNP	A	A	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr15:75108976A>T	ENST00000309664.5	+	4	581	c.442A>T	c.(442-444)Agt>Tgt	p.S148C	LMAN1L_ENST00000379709.3_Missense_Mutation_p.S148C	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	148	L-type lectin-like.					ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding	p.S148C(1)		NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCTGCAGGACAGTCCTGCCAT	0.662000													6	11					0	0	0.038147	0	0
PVRL1	5818	broad.mit.edu	37	11	119545336	119545336	+	Missense_Mutation	SNP	G	G	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr11:119545336G>A	ENST00000340882.2	-	6	1024	c.1025C>T	c.(1024-1026)cCg>cTg	p.P342L	PVRL1_ENST00000341398.2_Intron|PVRL1_ENST00000264025.3_Intron	NM_203286.1	NP_976031.1	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	0					adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	p.P342L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		CCCTTTGCCCGGATAGATAAG	0.522000													4	157					0	0	0.150653	0	0
PCNX	22990	broad.mit.edu	37	14	71444699	71444699	+	Missense_Mutation	SNP	G	G	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr14:71444699G>A	ENST00000304743.2	+	6	2091	c.1645G>A	c.(1645-1647)Gta>Ata	p.V549I	PCNX_ENST00000439984.3_Missense_Mutation_p.V549I|PCNX_ENST00000238570.5_Missense_Mutation_p.V549I	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	549						integral to membrane		p.V549I(1)		NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		ATCTTCTAGCGTAATCCATCG	0.468000													27	94					0	0	0.108266	0	0
GLUL	2752	broad.mit.edu	37	1	182357841	182357841	+	Missense_Mutation	SNP	T	T	C			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr1:182357841T>C	ENST00000311223.5	-	3	928	c.32A>G	c.(31-33)aAa>aGa	p.K11R	GLUL_ENST00000491322.1_5'UTR|GLUL_ENST00000339526.4_Missense_Mutation_p.K11R|GLUL_ENST00000331872.6_Missense_Mutation_p.K11R|GLUL_ENST00000417584.2_Missense_Mutation_p.K11R	NM_002065.5	NP_002056.2	P15104	GLNA_HUMAN	glutamate-ammonia ligase	11					cell proliferation|glutamine biosynthetic process|neurotransmitter uptake	cytosol|Golgi apparatus|mitochondrion	ATP binding|glutamate decarboxylase activity|glutamate-ammonia ligase activity|identical protein binding	p.K11R(1)		endometrium(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	16					Asparaginase(DB00023)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)|L-Methionine(DB00134)	CTTGATGCCTTTATTTAAGTG	0.488000													20	104					0	0	0.062417	0	0
FBXO43	286151	broad.mit.edu	37	8	101153863	101153863	+	Missense_Mutation	SNP	C	C	G			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr8:101153863C>G	ENST00000428847.2	-	2	935	c.619G>C	c.(619-621)Gtt>Ctt	p.V207L		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	207					meiosis		zinc ion binding	p.V173L(2)|p.V207L(1)		endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			GTGCTAGTAACTAAAGGGCTA	0.328000													6	54					0	0	0.021553	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136100	40136100	+	Missense_Mutation	SNP	C	C	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr11:40136100C>A	ENST00000278198.2	-	2	3706	c.1743G>T	c.(1741-1743)atG>atT	p.M581I	LRRC4C_ENST00000528697.1_Missense_Mutation_p.M581I|LRRC4C_ENST00000530763.1_Missense_Mutation_p.M581I|LRRC4C_ENST00000527150.1_Missense_Mutation_p.M581I			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	581					regulation of axonogenesis	integral to membrane	protein binding	p.M581_E582>I*(1)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GGTGGCTTTCCATGGGTGTGT	0.448000													19	90					5.35267e-07	6.08159e-07	0.189662	1	0
CRTAC1	55118	broad.mit.edu	37	10	99625320	99625320	+	Silent	SNP	G	G	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr10:99625320G>A	ENST00000370597.3	-	15	2326	c.1971C>T	c.(1969-1971)tgC>tgT	p.C657C	GOLGA7B_ENST00000370602.1_Intron|CRTAC1_ENST00000298819.4_3'UTR	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	657						proteinaceous extracellular matrix	calcium ion binding	p.C657C(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		AGCTGGGCTCGCAGCTCTCCT	0.627000													7	17					0	0	0.029380	0	0
TARS	6897	broad.mit.edu	37	5	33457373	33457373	+	Silent	SNP	G	G	C	rs113811412		TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr5:33457373G>C	ENST00000265112.3	+	9	1160	c.849G>C	c.(847-849)acG>acC	p.T283T	TARS_ENST00000541634.1_Silent_p.T179T|TARS_ENST00000502553.1_Silent_p.T283T|TARS_ENST00000455217.2_Silent_p.T316T|TARS_ENST00000414361.2_Silent_p.T162T	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	283					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity	p.T283T(1)		NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	ATTCCTCCACGTACTGGGAAG	0.388000													32	84					0	0	0.153744	0	0
SLC46A3	283537	broad.mit.edu	37	13	29287437	29287437	+	Missense_Mutation	SNP	A	A	G			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr13:29287437A>G	ENST00000266943.6	-	3	809	c.440T>C	c.(439-441)tTt>tCt	p.F147S	SLC46A3_ENST00000380814.4_Missense_Mutation_p.F147S	NM_001135919.1|NM_181785.3	NP_001129391.1|NP_861450.1	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3	147					transmembrane transport	integral to membrane		p.F147S(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		AGCTCCCCAAAATGTGGTATA	0.378000													7	29					0	0	0.038147	0	0
IL4I1	259307	broad.mit.edu	37	19	50397696	50397696	+	Silent	SNP	C	C	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr19:50397696C>A	ENST00000595948.1	-	7	1082	c.462G>T	c.(460-462)ggG>ggT	p.G154G	IL4I1_ENST00000341114.3_Silent_p.G154G|IL4I1_ENST00000391826.2_Silent_p.G132G	NM_001258018.1	NP_001244947.1	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1	132						lysosome	L-amino-acid oxidase activity	p.G154G(1)		endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)		TCAGGTTGAGCCCCAGGCCCT	0.617000													22	48					7.87624e-14	1.06865e-13	0.076483	1	0
AHDC1	27245	broad.mit.edu	37	1	27874644	27874644	+	Nonsense_Mutation	SNP	G	G	C			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr1:27874644G>C	ENST00000374011.2	-	6	4951	c.3983C>G	c.(3982-3984)tCa>tGa	p.S1328*	AHDC1_ENST00000482400.2_Intron|AHDC1_ENST00000247087.5_Nonsense_Mutation_p.S1328*	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1328							DNA binding	p.S1328*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		CCTCGACTGTGAGGGCAGTGG	0.602000													8	48					0	0	0.058154	0	0
LRP1B	53353	broad.mit.edu	37	2	141108485	141108485	+	Missense_Mutation	SNP	C	C	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr2:141108485C>A	ENST00000389484.3	-	77	12744	c.11773G>T	c.(11773-11775)Ggg>Tgg	p.G3925W		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3925					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.G3925W(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACATCCATCCCTGTTATTCTT	0.343000										TSP Lung(27;0.18)			21	60					3.51602e-12	4.6246e-12	0.204396	1	0
MIPOL1	145282	broad.mit.edu	37	14	37838830	37838830	+	Splice_Site	SNP	G	G	C			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr14:37838830G>C	ENST00000327441.7	+	11	1402		c.e11+1		MIPOL1_ENST00000536774.1_Splice_Site|MIPOL1_ENST00000537471.1_Splice_Site|MIPOL1_ENST00000396294.2_Splice_Site|MIPOL1_ENST00000539062.2_Splice_Site|MIPOL1_ENST00000545536.1_Splice_Site|MIPOL1_ENST00000556451.1_Splice_Site	NM_001195296.1|NM_001195297.1|NM_138731.6	NP_001182225.1|NP_001182226.1|NP_620059.1	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1									p.?(1)		breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)		TGCTCTGAAGGTAAATCTCCG	0.438000													6	21					0	0	0.021553	0	0
HCRTR2	3062	broad.mit.edu	37	6	55147091	55147091	+	Missense_Mutation	SNP	G	G	T	rs148944500		TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr6:55147091G>T	ENST00000370862.3	+	7	1510	c.1174G>T	c.(1174-1176)Gat>Tat	p.D392Y		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	392					feeding behavior	integral to plasma membrane	neuropeptide receptor activity	p.D392Y(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TCGCCAGGAGGATCGGCTCAC	0.453000													7	13					7.48243e-07	8.43282e-07	0.058154	1	0
SLC4A5	57835	broad.mit.edu	37	2	74491340	74491340	+	Missense_Mutation	SNP	G	G	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr2:74491340G>A	ENST00000394019.2	-	10	1046	c.649C>T	c.(649-651)Cgc>Tgc	p.R217C	SLC4A5_ENST00000423644.1_Missense_Mutation_p.R217C|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000377632.1_Missense_Mutation_p.R217C|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377634.4_Missense_Mutation_p.R217C|SLC4A5_ENST00000359484.4_Missense_Mutation_p.R153C|SLC4A5_ENST00000358683.4_Missense_Mutation_p.R153C|SLC4A5_ENST00000357822.5_Missense_Mutation_p.R217C|SLC4A5_ENST00000346834.4_Missense_Mutation_p.R217C	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5	217						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	p.R217C(3)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GTTTGGTGGCGGTGCCTCCTC	0.557000													7	34					0	0	0.038147	0	0
ERN2	10595	broad.mit.edu	37	16	23721868	23721868	+	Missense_Mutation	SNP	G	G	T	rs139404469		TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr16:23721868G>T	ENST00000256797.4	-	3	514	c.346C>A	c.(346-348)Ccc>Acc	p.P116T	ERN2_ENST00000457008.2_Missense_Mutation_p.P68T	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	68					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity	p.P116S(1)|p.P116T(1)		large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		TCGATGACGGGATCTGCAGGG	0.507000													82	98					2.56221e-42	3.90266e-42	0.139131	1	0
PCDHB14	56122	broad.mit.edu	37	5	140603219	140603219	+	Missense_Mutation	SNP	C	C	G			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr5:140603219C>G	ENST00000239449.4	+	1	142	c.142C>G	c.(142-144)Cta>Gta	p.L48V	PCDHB14_ENST00000515856.2_Intron	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		48	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.L48V(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGTGGCTAATCTAGCGAGGGA	0.473000													6	47					0	0	0.029380	0	0
COL20A1	57642	broad.mit.edu	37	20	61950436	61950436	+	Missense_Mutation	SNP	C	C	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr20:61950436C>A	ENST00000422202.1	+	21	2779	c.2711C>A	c.(2710-2712)cCa>cAa	p.P904Q	COL20A1_ENST00000358894.6_Missense_Mutation_p.P897Q|COL20A1_ENST00000435874.1_Missense_Mutation_p.P904Q|COL20A1_ENST00000326996.6_Missense_Mutation_p.P897Q			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	897	TSP N-terminal.				cell adhesion	collagen|extracellular space	structural molecule activity	p.P897Q(1)		NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					CCCCTACCTCCAGAGCACACC	0.637000													12	16					0.000151284	0.000163259	0.105934	1	0
SPATA2	9825	broad.mit.edu	37	20	48525018	48525018	+	Missense_Mutation	SNP	G	G	C			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr20:48525018G>C	ENST00000422556.1	-	2	359	c.10C>G	c.(10-12)Ccc>Gcc	p.P4A	SPATA2_ENST00000543716.1_Intron|SPATA2_ENST00000289431.5_Missense_Mutation_p.P4A	NM_001135773.1	NP_001129245.1	Q9UM82	SPAT2_HUMAN	spermatogenesis associated 2	4					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus		p.P4A(1)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	20	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			ATTGAACTGGGCTTCCCCATC	0.527000													16	20					0	0	0.160694	0	0
TSSK1B	83942	broad.mit.edu	37	5	112770281	112770281	+	Missense_Mutation	SNP	C	C	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr5:112770281C>A	ENST00000390666.3	-	1	447	c.256G>T	c.(256-258)Gtc>Ttc	p.V86F	CTD-2201G3.1_ENST00000416046.2_RNA|CTD-2201G3.1_ENST00000383058.4_RNA|MCC_ENST00000408903.3_Intron	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1B	86	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.V86F(1)		large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		ACGATGTAGACCTTGCCATGT	0.517000													19	11					1.96895e-08	2.31227e-08	0.076483	1	0
PEX7	5191	broad.mit.edu	37	6	137191109	137191109	+	Missense_Mutation	SNP	C	C	G			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr6:137191109C>G	ENST00000541292.1	+	7	801	c.715C>G	c.(715-717)Ctt>Gtt	p.L239V	PEX7_ENST00000318471.4_Missense_Mutation_p.L239V			O00628	PEX7_HUMAN	peroxisomal biogenesis factor 7	239					ether lipid biosynthetic process|protein import into peroxisome matrix	peroxisome	peroxisome matrix targeting signal-2 binding	p.L239V(1)		lung(7)|prostate(1)	8	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000257)|OV - Ovarian serous cystadenocarcinoma(155;0.00492)		GTTTGAACTTCTTGGTCATAC	0.343000													27	172					0	0	0.091800	0	0
KDM6B	23135	broad.mit.edu	37	17	7752588	7752588	+	Silent	SNP	G	G	C			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr17:7752588G>C	ENST00000254846.5	+	11	3371	c.2982G>C	c.(2980-2982)gtG>gtC	p.V994V	KDM6B_ENST00000448097.2_Silent_p.V994V	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	994					inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.V994V(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						AGGACAGTGTGGGTCGTCGGC	0.662000													6	4					0	0	0.021553	0	0
SAMD7	344658	broad.mit.edu	37	3	169644740	169644740	+	Missense_Mutation	SNP	A	A	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr3:169644740A>T	ENST00000428432.2	+	6	1079	c.690A>T	c.(688-690)gaA>gaT	p.E230D	SAMD7_ENST00000335556.3_Missense_Mutation_p.E230D	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	230								p.E230D(1)		NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			CAGACATTGAAGCACCCAGCA	0.478000													13	43					0	0	0.119110	0	0
NCF4	4689	broad.mit.edu	37	22	37273714	37273714	+	Missense_Mutation	SNP	C	C	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr22:37273714C>T	ENST00000248899.6	+	10	1053	c.869C>T	c.(868-870)gCt>gTt	p.A290V	NCF4_ENST00000397147.4_3'UTR	NM_000631.4	NP_000622.2	Q15080	NCF4_HUMAN	neutrophil cytosolic factor 4, 40kDa	290					cell communication|immune response|oxidation-reduction process	cytosol|NADPH oxidase complex	phosphatidylinositol binding|protein dimerization activity	p.A290V(1)		cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						TACCGGGACGCTGAGGGGGAT	0.602000													16	4					0	0	0.160694	0	0
NEK11	79858	broad.mit.edu	37	3	130992400	130992400	+	Missense_Mutation	SNP	A	A	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr3:130992400A>T	ENST00000383366.4	+	17	1993	c.1700A>T	c.(1699-1701)aAg>aTg	p.K567M	NEK11_ENST00000429253.2_Missense_Mutation_p.K567M|NEK11_ENST00000510688.1_Intron|NEK11_ENST00000510769.1_Missense_Mutation_p.K462M|NEK11_ENST00000508196.1_Missense_Mutation_p.K567M|NEK11_ENST00000412440.2_Missense_Mutation_p.K383M	NM_024800.4	NP_079076.3	Q8NG66	NEK11_HUMAN	NIMA-related kinase 11	567					cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	p.K567M(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						GCCAGGACCAAGATGAAACGC	0.488000													21	12					0	0	0.069288	0	0
F2R	2149	broad.mit.edu	37	5	76028843	76028843	+	Missense_Mutation	SNP	G	G	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr5:76028843G>T	ENST00000319211.4	+	2	1058	c.793G>T	c.(793-795)Ggc>Tgc	p.G265C		NM_001992.3	NP_001983.2	P25116	PAR1_HUMAN	coagulation factor II (thrombin) receptor	265					activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	caveola|extracellular region|Golgi apparatus|integral to plasma membrane|platelet dense tubular network	receptor binding|thrombin receptor activity	p.G265C(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)	Streptokinase(DB00086)	CCTGCTCGAAGGCTACTATGC	0.502000													44	24					6.48837e-15	8.8897e-15	0.117977	1	0
GSAP	54103	broad.mit.edu	37	7	77016752	77016752	+	Missense_Mutation	SNP	C	C	G			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr7:77016752C>G	ENST00000257626.7	-	6	459	c.381G>C	c.(379-381)ttG>ttC	p.L127F		NM_017439.3	NP_059135.2			gamma-secretase activating protein									p.L127F(1)									CCAACAAAGTCAAGCACTTTG	0.368000													7	41					0	0	0.029380	0	0
OR2C3	81472	broad.mit.edu	37	1	247695586	247695586	+	Silent	SNP	C	C	G	rs143777369		TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr1:247695586C>G	ENST00000366487.3	-	2	589	c.228G>C	c.(226-228)acG>acC	p.T76T	GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000527541.1_Intron	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	76					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T75T(2)		breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			GGACAATGCTCGTGGTGAAGC	0.522000													4	17					0	0	0.150653	0	0
PQLC1	80148	broad.mit.edu	37	18	77693994	77693994	+	Missense_Mutation	SNP	C	C	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr18:77693994C>A	ENST00000397778.2	-	4	548	c.366G>T	c.(364-366)aaG>aaT	p.K122N	PQLC1_ENST00000357575.4_Intron|PQLC1_ENST00000590381.1_Intron|PQLC1_ENST00000409073.1_Missense_Mutation_p.K39N	NM_025078.4	NP_079354.2	Q8N2U9	PQLC1_HUMAN	PQ loop repeat containing 1	122						integral to membrane		p.K122N(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	9		Esophageal squamous(42;0.0212)|Melanoma(33;0.2)		OV - Ovarian serous cystadenocarcinoma(15;8.2e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0258)		TGGGGGCAACCTTGACTTCTT	0.493000													3	8					1.23904e-05	1.37698e-05	0.184627	1	0
SYT6	148281	broad.mit.edu	37	1	114680557	114680557	+	Missense_Mutation	SNP	G	G	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr1:114680557G>T	ENST00000393296.1	-	3	708	c.631C>A	c.(631-633)Ctc>Atc	p.L211I	SYT6_ENST00000369547.1_Missense_Mutation_p.L126I			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	211					acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity	p.L126I(1)		central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGCTTGTAGAGCTCAGGCTTG	0.567000													12	34					5.50884e-06	6.14659e-06	0.093190	1	0
UTRN	7402	broad.mit.edu	37	6	144999682	144999682	+	Missense_Mutation	SNP	G	G	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr6:144999682G>T	ENST00000367545.3	+	51	7620	c.7620G>T	c.(7618-7620)tgG>tgT	p.W2540C	UTRN_ENST00000367526.4_Missense_Mutation_p.W95C	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2540					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	p.W2540C(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		ACCAAAGATGGAATGACTTAA	0.368000													10	5					4.68919e-08	5.4953e-08	0.069234	1	0
KDM6B	23135	broad.mit.edu	37	17	7753196	7753196	+	Silent	SNP	G	G	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr17:7753196G>A	ENST00000254846.5	+	12	3887	c.3498G>A	c.(3496-3498)gtG>gtA	p.V1166V	KDM6B_ENST00000448097.2_Silent_p.V1166V	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1166					inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.V1166V(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CCCAGTCTGTGAAACCGAAGA	0.532000													89	143					0	0	0.139131	0	0
RNF19A	25897	broad.mit.edu	37	8	101276385	101276385	+	Missense_Mutation	SNP	C	C	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr8:101276385C>T	ENST00000519449.1	-	8	1661	c.1345G>A	c.(1345-1347)Gta>Ata	p.V449I	RNF19A_ENST00000523255.1_Intron|RNF19A_ENST00000341084.2_Missense_Mutation_p.V449I	NM_015435.3	NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	449					microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding	p.V449I(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			ATTGGAACTACGCCATAGACA	0.353000													11	35					0	0	0.080935	0	0
FOXB1	27023	broad.mit.edu	37	15	60297294	60297294	+	Missense_Mutation	SNP	G	G	C			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr15:60297294G>C	ENST00000396057.4	+	2	611	c.132G>C	c.(130-132)atG>atC	p.M44I	FOXB1_ENST00000560857.1_Intron	NM_012182.2	NP_036314.2	Q99853	FOXB1_HUMAN	forkhead box B1	44					axon target recognition|cell migration in diencephalon|epithelial cell differentiation involved in mammary gland alveolus development|floor plate development|hypothalamus cell migration|inferior colliculus development|lactation|mammillothalamic axonal tract development|negative regulation of neuron apoptosis|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|telencephalon cell migration|visual learning	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.M44I(2)		central_nervous_system(1)|kidney(1)|lung(3)|ovary(1)	6						AGTTCATCATGGACCGCTTCC	0.587000													10	10					0	0	0.069234	0	0
RAG1	5896	broad.mit.edu	37	11	36597145	36597145	+	Missense_Mutation	SNP	G	G	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr11:36597145G>T	ENST00000299440.5	+	2	2403	c.2291G>T	c.(2290-2292)cGt>cTt	p.R764L		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	764					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	p.R764L(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GAGGTCTGGCGTTCCAACCCT	0.498000									Familial Hemophagocytic Lymphohistiocytosis				33	33					2.80507e-11	3.62971e-11	0.163468	1	0
ACSM2B	348158	broad.mit.edu	37	16	20548599	20548599	+	Missense_Mutation	SNP	C	C	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr16:20548599C>A	ENST00000329697.6	-	14	1883	c.1715G>T	c.(1714-1716)gGa>gTa	p.G572V	ACSM2B_ENST00000567001.1_Missense_Mutation_p.G572V|ACSM2B_ENST00000565232.1_Missense_Mutation_p.G572V|ACSM2B_ENST00000565322.1_Missense_Mutation_p.G493V	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	572					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	p.G572V(1)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						ACGGGCTTTTCCGGACATCTT	0.458000													112	124					2.23157e-60	3.42705e-60	0.139131	1	0
TM4SF20	79853	broad.mit.edu	37	2	228235653	228235653	+	Missense_Mutation	SNP	G	G	A	rs138005777		TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr2:228235653G>A	ENST00000304568.3	-	2	264	c.227C>T	c.(226-228)gCg>gTg	p.A76V		NM_024795.3	NP_079071.2	Q53R12	T4S20_HUMAN	transmembrane 4 L six family member 20	76						integral to membrane|plasma membrane		p.A76V(1)		breast(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(2)	10		Renal(207;0.025)|all_lung(227;0.123)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;3.8e-11)|all cancers(144;2.57e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)		GTTGCAGCACGCTCTTTTTCT	0.428000													116	238					0	0	0.139131	0	0
IFT122	55764	broad.mit.edu	37	3	129185898	129185898	+	Missense_Mutation	SNP	G	G	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr3:129185898G>T	ENST00000296266.3	+	9	1074	c.882G>T	c.(880-882)agG>agT	p.R294S	IFT122_ENST00000507564.1_Intron|IFT122_ENST00000504021.1_Intron|IFT122_ENST00000440957.2_Intron|IFT122_ENST00000431818.2_Missense_Mutation_p.R93S|IFT122_ENST00000349441.2_Intron|IFT122_ENST00000348417.2_Missense_Mutation_p.R243S|IFT122_ENST00000347300.2_Intron	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN	intraflagellar transport 122 homolog (Chlamydomonas)	243					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium		p.R294S(1)		breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						ACAGTCCCAGGGACGACAACT	0.532000													13	34					1.61879e-10	2.0473e-10	0.093190	1	0
LRP1B	53353	broad.mit.edu	37	2	141032006	141032006	+	Missense_Mutation	SNP	C	C	A	rs150457308	byFrequency	TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr2:141032006C>A	ENST00000389484.3	-	85	14100	c.13129G>T	c.(13129-13131)Gat>Tat	p.D4377Y		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4377					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.D4377Y(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAAAATATATCTTCACTGTCT	0.383000										TSP Lung(27;0.18)			7	41					8.12818e-05	8.82263e-05	0.029380	1	0
GZMA	3001	broad.mit.edu	37	5	54401361	54401361	+	Missense_Mutation	SNP	G	G	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr5:54401361G>T	ENST00000274306.6	+	2	165	c.130G>T	c.(130-132)Gtc>Ttc	p.V44F		NM_006144.3	NP_006135.1	P12544	GRAA_HUMAN	granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3)	44	Peptidase S1.				cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis	extracellular region|immunological synapse|nucleus	protein homodimerization activity|serine-type endopeptidase activity	p.V44F(1)		NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	25		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				ACCCTACATGGTCCTACTTAG	0.428000													13	24					0.00010058	0.000108962	0.093190	1	0
KRT4	3851	broad.mit.edu	37	12	53201035	53201035	+	Splice_Site	SNP	C	C	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr12:53201035C>A	ENST00000551956.1	-	9	1874		c.e9-1		KRT4_ENST00000458244.2_Splice_Site|KRT4_ENST00000293774.4_Splice_Site			B4DRS2	B4DRS2_HUMAN	keratin 4							keratin filament	structural molecule activity	p.?(1)		endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						CTGACCACAGCTGCAGAAAAG	0.572000													17	19					1.67942e-08	1.98897e-08	0.175082	1	0
DENND2D	79961	broad.mit.edu	37	1	111743052	111743052	+	Silent	SNP	G	G	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr1:111743052G>A	ENST00000357640.4	-	1	259	c.30C>T	c.(28-30)ttC>ttT	p.F10F	DENND2D_ENST00000473682.1_5'UTR|DENND2D_ENST00000369752.5_Intron	NM_024901.3	NP_079177.2	Q9H6A0	DEN2D_HUMAN	DENN/MADD domain containing 2D	10								p.F10F(1)		breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)		GGAAGAGCCTGAACACCCGGC	0.562000													4	5					0	0	0.150653	0	0
GAB4	128954	broad.mit.edu	37	22	17444635	17444635	+	Missense_Mutation	SNP	G	G	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr22:17444635G>T	ENST00000400588.1	-	9	1668	c.1561C>A	c.(1561-1563)Ctg>Atg	p.L521M		NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	521								p.L521M(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				TGGAAGTCCAGGGCCGCGTAG	0.657000													8	1					1.33987e-11	1.75819e-11	0.069234	1	0
CENPF	1063	broad.mit.edu	37	1	214818865	214818865	+	Missense_Mutation	SNP	G	G	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr1:214818865G>A	ENST00000366955.3	+	13	6120	c.5952G>A	c.(5950-5952)atG>atA	p.M1984I		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2080					cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	p.M1984I(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		CTGAAAAAATGAAGGAGAAAA	0.438000													14	19					0	0	0.105934	0	0
DIDO1	11083	broad.mit.edu	37	20	61542492	61542492	+	Missense_Mutation	SNP	C	C	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr20:61542492C>A	ENST00000266070.4	-	3	798	c.473G>T	c.(472-474)gGc>gTc	p.G158V	DIDO1_ENST00000395335.2_Missense_Mutation_p.G158V|DIDO1_ENST00000266071.5_Missense_Mutation_p.G158V|DIDO1_ENST00000395340.1_Missense_Mutation_p.G158V|DIDO1_ENST00000395343.1_Missense_Mutation_p.G158V|DIDO1_ENST00000370366.1_Missense_Mutation_p.G158V|DIDO1_ENST00000354665.4_Missense_Mutation_p.G158V|DIDO1_ENST00000370368.1_Missense_Mutation_p.G158V|DIDO1_ENST00000370371.4_Missense_Mutation_p.G158V	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	158					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	p.G158V(2)		NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CAAGGTCAGGCCATCGCTGTC	0.572000													51	20					1.4374e-25	2.12568e-25	0.139131	1	0
TCEB3B	51224	broad.mit.edu	37	18	44559841	44559841	+	Missense_Mutation	SNP	G	G	C			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr18:44559841G>C	ENST00000332567.4	-	1	2147	c.1795C>G	c.(1795-1797)Cag>Gag	p.Q599E	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	599	Activation domain (By similarity).				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	p.Q599E(1)		breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TTGTTTTCCTGTGGCTTTTCT	0.493000													18	36					0	0	0.076483	0	0
TTK	7272	broad.mit.edu	37	6	80724274	80724274	+	Missense_Mutation	SNP	C	C	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr6:80724274C>A	ENST00000509894.1	+	10	1908	c.1079C>A	c.(1078-1080)aCg>aAg	p.T360K	TTK_ENST00000369798.2_Missense_Mutation_p.T360K|TTK_ENST00000515751.1_3'UTR|TTK_ENST00000230510.3_Missense_Mutation_p.T360K			P33981	TTK_HUMAN	TTK protein kinase	360					mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.T360K(1)|p.T344K(1)		endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		AAGAATAAAACGGAATCAAGT	0.328000													20	45					3.62473e-10	4.53294e-10	0.062417	1	0
XKR7	343702	broad.mit.edu	37	20	30584572	30584572	+	Missense_Mutation	SNP	G	G	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr20:30584572G>T	ENST00000217299.3	+	3	1226	c.1052G>T	c.(1051-1053)tGc>tTc	p.C351F		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	351						integral to membrane		p.C351F(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			ACGGACTTCTGCATGTCCAAG	0.567000													14	24					1.5739e-10	1.99956e-10	0.146539	1	0
ADAMTS12	81792	broad.mit.edu	37	5	33588881	33588881	+	Silent	SNP	C	C	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr5:33588881C>T	ENST00000504830.1	-	18	3023	c.2688G>A	c.(2686-2688)gcG>gcA	p.A896A	ADAMTS12_ENST00000352040.3_Silent_p.A811A|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	896	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.A896A(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GCCCGCATGTCGCCGAGCATG	0.592000										HNSCC(64;0.19)	OREG0016553	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	79					0	0	0.058154	0	0
GFRAL	389400	broad.mit.edu	37	6	55198734	55198734	+	Missense_Mutation	SNP	A	A	G			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr6:55198734A>G	ENST00000340465.2	+	3	394	c.308A>G	c.(307-309)aAt>aGt	p.N103S		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	103						integral to membrane	receptor activity	p.N103S(1)		NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			AAATGTATCAATAAATCAGGT	0.279000													18	90					0	0	0.204396	0	0
REG1B	5968	broad.mit.edu	37	2	79313628	79313628	+	Silent	SNP	G	G	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr2:79313628G>T	ENST00000305089.3	-	4	266	c.186C>A	c.(184-186)ctC>ctA	p.L62L		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	62	C-type lectin.				cell proliferation	extracellular region	sugar binding	p.L62L(2)		central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						TCTGGCAATAGAGCTGTTGGA	0.498000													37	58					9.62906e-15	1.31605e-14	0.086207	1	0
TSSC1	7260	broad.mit.edu	37	2	3196338	3196338	+	Missense_Mutation	SNP	C	C	A	rs143510261		TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr2:3196338C>A	ENST00000398659.4	-	9	1057	c.917G>T	c.(916-918)cGc>cTc	p.R306L	TSSC1_ENST00000478754.1_5'UTR|TSSC1_ENST00000382125.4_Missense_Mutation_p.R279L			Q53HC9	TSSC1_HUMAN	tumor suppressing subtransferable candidate 1	279							protein binding	p.R279L(1)		breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)		GTGGTTGTAGCGGACGTTCCA	0.587000													16	28					2.32078e-09	2.82026e-09	0.132662	1	0
HHIPL2	79802	broad.mit.edu	37	1	222696210	222696210	+	Silent	SNP	T	T	C			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr1:222696210T>C	ENST00000343410.6	-	9	1966	c.1908A>G	c.(1906-1908)ctA>ctG	p.L636L	HHIPL2_ENST00000473144.1_5'UTR	NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	636					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	p.L636L(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		ATTGTTCCTTTAGCAAGTCCA	0.403000													35	59					0	0	0.173368	0	0
CDK6	1021	broad.mit.edu	37	7	92300778	92300778	+	Missense_Mutation	SNP	C	C	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr7:92300778C>A	ENST00000265734.4	-	5	1020	c.609G>T	c.(607-609)tgG>tgT	p.W203C	CDK6_ENST00000424848.2_Missense_Mutation_p.W203C	NM_001259.6	NP_001250.1	Q00534	CDK6_HUMAN	cyclin-dependent kinase 6	203	Protein kinase.				cell dedifferentiation|cell division|G1 phase of mitotic cell cycle|gliogenesis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|negative regulation of osteoblast differentiation|positive regulation of cell-matrix adhesion|positive regulation of fibroblast proliferation|regulation of erythrocyte differentiation|regulation of gene expression|response to virus	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleus|ruffle	ATP binding|cyclin binding|cyclin-dependent protein kinase activity	p.W203S(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	11	all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237)		STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			AGCCAACACTCCAGAGATCCA	0.473000			T	MLLT10	ALL								15	46					8.60227e-14	1.16151e-13	0.146539	1	0
POLR2A	5430	broad.mit.edu	37	17	7402375	7402375	+	Silent	SNP	T	T	C			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr17:7402375T>C	ENST00000322644.6	+	9	1752	c.1353T>C	c.(1351-1353)tgT>tgC	p.C451C	POLR2A_ENST00000572844.1_Silent_p.C451C	NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	451					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding	p.C451C(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				GGCACATGTGTGATGGGGACA	0.483000													80	30					0	0	0.139131	0	0
KLK8	11202	broad.mit.edu	37	19	51499412	51499412	+	Missense_Mutation	SNP	C	C	G			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr19:51499412C>G	ENST00000600767.1	-	7	1175	c.686G>C	c.(685-687)gGc>gCc	p.G229A	KLK8_ENST00000320838.5_3'UTR|CTB-147C22.9_ENST00000594512.1_RNA|KLK8_ENST00000347619.4_Missense_Mutation_p.G88A|KLK8_ENST00000391806.2_Missense_Mutation_p.G274A|KLK8_ENST00000291726.7_Missense_Mutation_p.G229A|KLK8_ENST00000598195.1_5'UTR|KLK8_ENST00000593490.1_3'UTR			O60259	KLK8_HUMAN	kallikrein-related peptidase 8	229	Peptidase S1.				cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding	cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity	p.G274A(1)|p.G274V(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		GGGGTCTGAGCCCCAGGATGT	0.567000													48	65					0	0	0.139131	0	0
PGAP1	80055	broad.mit.edu	37	2	197708759	197708759	+	Missense_Mutation	SNP	T	T	C			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr2:197708759T>C	ENST00000354764.3	-	25	2492	c.2378A>G	c.(2377-2379)cAt>cGt	p.H793R		NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	793					attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity	p.H793R(1)		breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						GTCTTTATGATGATTGGATTT	0.328000													15	28					0	0	0.160694	0	0
UGGT1	56886	broad.mit.edu	37	2	128855128	128855128	+	Missense_Mutation	SNP	T	T	G			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr2:128855128T>G	ENST00000375990.3	+	2	515	c.112T>G	c.(112-114)Tta>Gta	p.L38V	UGGT1_ENST00000259253.6_Missense_Mutation_p.L62V			Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	62					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding	p.L62V(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TCCATTGTTGTTAGAAGCCAG	0.398000													29	44					0	0	0.134883	0	0
SDK2	54549	broad.mit.edu	37	17	71412116	71412116	+	Silent	SNP	C	C	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr17:71412116C>T	ENST00000392650.3	-	17	2202	c.2202G>A	c.(2200-2202)ggG>ggA	p.G734G	SDK2_ENST00000388726.3_Silent_p.G734G	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	734	Fibronectin type-III 2.				cell adhesion	integral to membrane		p.G734G(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						CCACGGGCAGCCCGGCCAGGC	0.572000													3	6					0	0	0.115264	0	0
PCLO	27445	broad.mit.edu	37	7	82585020	82585020	+	Missense_Mutation	SNP	C	C	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr7:82585020C>T	ENST00000423517.2	-	5	5586	c.5249G>A	c.(5248-5250)gGa>gAa	p.G1750E	PCLO_ENST00000333891.8_Missense_Mutation_p.G1750E	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1681					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.G1750E(2)|p.G1681E(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTTGCTCTCTCCTTTTTTGTG	0.473000													46	115					0	0	0.139131	0	0
WDR1	9948	broad.mit.edu	37	4	10099383	10099383	+	Silent	SNP	G	G	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr4:10099383G>A	ENST00000382452.2	-	5	792	c.510C>T	c.(508-510)tgC>tgT	p.C170C	WDR1_ENST00000502702.1_Intron|WDR1_ENST00000382451.2_Intron|WDR1_ENST00000499869.2_Silent_p.C170C	NM_017491.3	NP_059830.1	O75083	WDR1_HUMAN	WD repeat domain 1	170					platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding	p.C170C(2)		endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		AGAATGCCGCGCAGTTATCAT	0.498000													14	6					0	0	0.160694	0	0
OR4A5	81318	broad.mit.edu	37	11	51411896	51411896	+	Missense_Mutation	SNP	C	C	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr11:51411896C>A	ENST00000319760.6	-	1	552	c.500G>T	c.(499-501)gGt>gTt	p.G167V		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G167V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				GACATTGGGACCACAGAAAGG	0.438000													13	11					2.32078e-09	2.82026e-09	0.132662	1	0
UTRN	7402	broad.mit.edu	37	6	145051568	145051568	+	Missense_Mutation	SNP	G	G	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr6:145051568G>A	ENST00000367545.3	+	53	7885	c.7885G>A	c.(7885-7887)Gat>Aat	p.D2629N	UTRN_ENST00000367526.4_Missense_Mutation_p.D184N	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2629					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	p.D2629N(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TTTCTTGGCTGATCAGCCAAT	0.448000													22	56					0	0	0.069288	0	0
HIST3H3	8290	broad.mit.edu	37	1	228612717	228612717	+	Silent	SNP	G	G	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr1:228612717G>A	ENST00000366696.1	-	1	309	c.310C>T	c.(310-312)Ctg>Ttg	p.L104L		NM_003493.2	NP_003484.1	Q16695	H31T_HUMAN	histone cluster 3, H3	104					nucleosome assembly|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	p.L104L(1)		large_intestine(1)|lung(2)|prostate(2)|skin(1)	6		Prostate(94;0.0724)				TCCTCAAACAGCCCCACCAGG	0.617000													25	42					0	0	0.083992	0	0
ACTRT1	139741	broad.mit.edu	37	X	127185207	127185207	+	Missense_Mutation	SNP	G	G	C	rs138169925		TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chrX:127185207G>C	ENST00000371124.3	-	1	1175	c.979C>G	c.(979-981)Ccc>Gcc	p.P327A		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	327						cytoplasm|cytoskeleton		p.P327A(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						ATCTTGATGGGAGTACCTTTG	0.512000													23	45					0	0	0.062417	0	0
OR2T27	403239	broad.mit.edu	37	1	248814155	248814155	+	Missense_Mutation	SNP	C	C	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr1:248814155C>A	ENST00000344889.3	-	1	30	c.31G>T	c.(31-33)Gac>Tac	p.D11Y		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D11Y(2)|p.D11N(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGGATAAAGTCGGCATACACG	0.443000													3	15					0.00909568	0.00939831	0.150653	1	0
CAV3	859	broad.mit.edu	37	3	8787303	8787303	+	Missense_Mutation	SNP	A	A	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr3:8787303A>T	ENST00000343849.2	+	2	283	c.206A>T	c.(205-207)aAg>aTg	p.K69M	CAV3_ENST00000472766.1_Intron|CAV3_ENST00000397368.2_Missense_Mutation_p.K69M	NM_001234.4|NM_033337.2	NP_001225.1|NP_203123.1	P56539	CAV3_HUMAN	caveolin 3	69	Required for interaction with DAG1.				cell growth|elevation of cytosolic calcium ion concentration|muscle organ development|negative regulation of cardiac muscle hypertrophy|negative regulation of cell size|negative regulation of MAP kinase activity|negative regulation of sarcomere organization|positive regulation of microtubule polymerization|regulation of skeletal muscle contraction|regulation of ventricular cardiomyocyte membrane repolarization|T-tubule organization	caveola|dystrophin-associated glycoprotein complex|Golgi membrane|neuromuscular junction|T-tubule	protein C-terminus binding|protein complex binding|protein complex scaffold|sodium channel regulator activity	p.K69M(1)		breast(1)|kidney(2)|large_intestine(4)|lung(3)|prostate(1)	11						ACTGTCTCCAAGTACTGGTGC	0.602000													17	9					0	0	0.160694	0	0
MTA1	9112	broad.mit.edu	37	14	105916508	105916508	+	Missense_Mutation	SNP	G	G	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr14:105916508G>A	ENST00000331320.7	+	5	569	c.355G>A	c.(355-357)Gcc>Acc	p.A119T	MTA1_ENST00000406191.1_Missense_Mutation_p.A119T|MTA1_ENST00000405646.1_Missense_Mutation_p.A102T	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	metastasis associated 1	119	BAH.				signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A119T(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		GTCTCTGCCCGCCACGCACAT	0.657000													32	96					0	0	0.193644	0	0
LNPEP	4012	broad.mit.edu	37	5	96315308	96315308	+	Silent	SNP	A	A	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr5:96315308A>T	ENST00000231368.5	+	2	1178	c.486A>T	c.(484-486)ccA>ccT	p.P162P	LNPEP_ENST00000395770.3_Silent_p.P148P	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	162					cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	p.P162P(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		AATTGTTTCCATGGGCACAGA	0.463000													57	20					0	0	0.139131	0	0
CLDN14	23562	broad.mit.edu	37	21	37833476	37833476	+	Missense_Mutation	SNP	A	A	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr21:37833476A>T	ENST00000399137.1	-	3	1384	c.518T>A	c.(517-519)cTc>cAc	p.L173H	AP000695.4_ENST00000428667.1_RNA|CLDN14_ENST00000399135.1_Missense_Mutation_p.L173H|CLDN14_ENST00000342108.2_Missense_Mutation_p.L173H|CLDN14_ENST00000399139.1_Missense_Mutation_p.L173H|CLDN14_ENST00000399136.1_Missense_Mutation_p.L173H|AP000695.6_ENST00000429588.1_RNA	NM_144492.2	NP_652763.1	O95500	CLD14_HUMAN	claudin 14	173					calcium-independent cell-cell adhesion|protein complex assembly|tight junction assembly	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity	p.L173H(1)		endometrium(1)|lung(5)|skin(1)	7						AATGAGCGAGAGGGACGAGGA	0.627000													33	8					0	0	0.203993	0	0
STAB2	55576	broad.mit.edu	37	12	103984725	103984725	+	Silent	SNP	A	A	C			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr12:103984725A>C	ENST00000388887.2	+	2	336	c.132A>C	c.(130-132)cgA>cgC	p.R44R		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	44					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	p.R44R(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CCGAGTGCCGATCCTGCGCTC	0.428000													15	77					0	0	0.132662	0	0
DYSF	8291	broad.mit.edu	37	2	71741006	71741006	+	Silent	SNP	G	G	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr2:71741006G>T	ENST00000258104.3	+	6	895	c.618G>T	c.(616-618)gcG>gcT	p.A206A	DYSF_ENST00000410041.1_Silent_p.A238A|DYSF_ENST00000409651.1_Silent_p.A238A|DYSF_ENST00000409582.3_Silent_p.A237A|DYSF_ENST00000409762.1_Silent_p.A237A|DYSF_ENST00000409744.1_Silent_p.A207A|DYSF_ENST00000409366.1_Silent_p.A207A|DYSF_ENST00000410020.3_Silent_p.A238A|DYSF_ENST00000429174.2_Silent_p.A206A|DYSF_ENST00000394120.2_Silent_p.A207A|DYSF_ENST00000413539.2_Silent_p.A237A	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	206						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	p.A206A(1)|p.A238A(1)		autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						AGCGAAGTGCGCCTACATCTA	0.587000													16	18					8.60227e-14	1.16151e-13	0.146539	1	0
SERPINA3	12	broad.mit.edu	37	14	95088688	95088688	+	Missense_Mutation	SNP	G	G	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr14:95088688G>A	ENST00000553947.1	+	7	1891	c.1003G>A	c.(1003-1005)Gag>Aag	p.E335K	SERPINA3_ENST00000482740.1_Missense_Mutation_p.E92K|SERPINA3_ENST00000393080.4_Missense_Mutation_p.E310K|SERPINA3_ENST00000556388.1_3'UTR|SERPINA3_ENST00000467132.1_Missense_Mutation_p.E310K|SERPINA3_ENST00000393078.3_Missense_Mutation_p.E310K			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	310					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity	p.E310K(1)		NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		AGAGATAGGTGAGCTCTACCT	0.493000													34	37					0	0	0.203993	0	0
GNPTAB	79158	broad.mit.edu	37	12	102160038	102160038	+	Silent	SNP	A	A	C			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr12:102160038A>C	ENST00000299314.7	-	12	1705	c.1443T>G	c.(1441-1443)ggT>ggG	p.G481G		NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	481	Gly-rich.				cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity	p.G481G(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						CAGTACCTCCACCTCCTGCAA	0.478000													6	77					0	0	0.093190	0	0
L3HYPDH	112849	broad.mit.edu	37	14	59946027	59946027	+	Missense_Mutation	SNP	T	T	C			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr14:59946027T>C	ENST00000247194.4	-	2	664	c.551A>G	c.(550-552)gAc>gGc	p.D184G	RP11-701B16.2_ENST00000554253.1_RNA|L3HYPDH_ENST00000487285.1_Missense_Mutation_p.D13G	NM_144581.1	NP_653182.1			L-3-hydroxyproline dehydratase (trans-)									p.D184G(1)									ATATGCAATGTCCACCATCAC	0.393000													19	33					0	0	0.062417	0	0
ABCA6	23460	broad.mit.edu	37	17	67114072	67114072	+	Missense_Mutation	SNP	T	T	G			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr17:67114072T>G	ENST00000284425.2	-	11	1636	c.1462A>C	c.(1462-1464)Aaa>Caa	p.K488Q		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	488	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity	p.K488Q(1)		breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					GATTTTCCTTTATATTCCTTC	0.318000													3	27					0	0	0.115264	0	0
LDOC1	23641	broad.mit.edu	37	X	140270799	140270799	+	Missense_Mutation	SNP	G	G	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chrX:140270799G>T	ENST00000370526.2	-	1	511	c.408C>A	c.(406-408)gaC>gaA	p.D136E	LDOC1_ENST00000460721.1_Intron	NM_012317.2	NP_036449.1	O95751	LDOC1_HUMAN	leucine zipper, down-regulated in cancer 1	136	Asp/Glu-rich (highly acidic).				negative regulation of cell proliferation	nucleus	protein binding	p.D136E(1)		endometrium(6)|large_intestine(1)|lung(6)|ovary(1)	14	Acute lymphoblastic leukemia(192;7.65e-05)					cgtcgtcgtcgtcttcgtcgt	0.627000													8	25					0.00307968	0.00319989	0.038147	1	0
LOC220729	220729	broad.mit.edu	37	3	197348634	197348634	+	RNA	SNP	G	G	C			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr3:197348634G>C	ENST00000418868.1	-	0	625					NR_003266.2																						CAGCAGCACCGATGGGCCTGC	0.542000													3	49					0	0	0.115264	0	0
TEX37	200523	broad.mit.edu	37	2	88828634	88828634	+	Missense_Mutation	SNP	C	C	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr2:88828634C>A	ENST00000303254.3	+	4	327	c.185C>A	c.(184-186)cCc>cAc	p.P62H		NM_152670.2	NP_689883.1			testis expressed 37									p.P62H(1)									AACCCCAACCCCAAGCTAACA	0.537000													10	36					0.000442599	0.000469474	0.058154	1	0
LTN1	26046	broad.mit.edu	37	21	30308959	30308959	+	Missense_Mutation	SNP	G	G	C			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr21:30308959G>C	ENST00000361371.4	-	26	4693	c.4543C>G	c.(4543-4545)Cac>Gac	p.H1515D	LTN1_ENST00000389194.2_Missense_Mutation_p.H1561D	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	1515							ligase activity|zinc ion binding	p.H1515D(1)		NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						CTGAACAGGTGATAGAGCAAT	0.413000													31	222					0	0	0.203993	0	0
PGBD1	84547	broad.mit.edu	37	6	28269749	28269749	+	Silent	SNP	A	A	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr6:28269749A>T	ENST00000405948.2	+	7	2538	c.2118A>T	c.(2116-2118)ccA>ccT	p.P706P	PGBD1_ENST00000259883.3_Silent_p.P706P	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	706					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity	p.P706P(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						GCATAGAACCAGTCAATGAGG	0.398000													42	75					0	0	0.098360	0	0
FNBP1L	54874	broad.mit.edu	37	1	94014930	94014930	+	Missense_Mutation	SNP	A	A	C			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr1:94014930A>C	ENST00000260506.8	+	13	1575	c.1424A>C	c.(1423-1425)gAt>gCt	p.D475A	FNBP1L_ENST00000370256.4_Missense_Mutation_p.D528A|FNBP1L_ENST00000370253.2_Missense_Mutation_p.D475A|FNBP1L_ENST00000271234.7_Missense_Mutation_p.D533A|FNBP1L_ENST00000604705.1_Missense_Mutation_p.D533A	NM_001024948.2|NM_017737.4	NP_001020119.1|NP_060207.2	Q5T0N5	FBP1L_HUMAN	formin binding protein 1-like	533	Interaction with CDC42.				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	lipid binding	p.D475A(1)|p.D533A(1)		breast(2)|kidney(2)|large_intestine(4)|lung(2)|urinary_tract(1)	11		all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155)		all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111)		GAATTTGAGGATGATGATCCC	0.403000													11	15					0	0	0.069234	0	0
RIPPLY3	53820	broad.mit.edu	37	21	38380502	38380502	+	Missense_Mutation	SNP	G	G	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr21:38380502G>T	ENST00000329553.2	+	2	360	c.150G>T	c.(148-150)gaG>gaT	p.E50D	RIPPLY3_ENST00000485272.1_3'UTR	NM_018962.2	NP_061835.1			ripply transcriptional repressor 3									p.E50D(1)									GAGATGCTGAGCTGACCAGAA	0.577000													16	4					7.05477e-17	9.83445e-17	0.160694	1	0
FH	2271	broad.mit.edu	37	1	241661252	241661252	+	Missense_Mutation	SNP	T	T	C			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr1:241661252T>C	ENST00000366560.3	-	10	1447	c.1409A>G	c.(1408-1410)aAg>aGg	p.K470R		NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	fumarate hydratase	470					fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity	p.K470R(1)		biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		CTTAGCAATCTTTGCTGCCTT	0.383000			"""Mis, N, F"""			"""lieomyomatosis, renal"""			Hereditary Leiomyomatosis and Renal Cell Cancer				8	52					0	0	0.047766	0	0
KDM6B	23135	broad.mit.edu	37	17	7752487	7752487	+	Missense_Mutation	SNP	G	G	A	rs71371820		TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr17:7752487G>A	ENST00000254846.5	+	11	3270	c.2881G>A	c.(2881-2883)Gag>Aag	p.E961K	KDM6B_ENST00000448097.2_Missense_Mutation_p.E961K	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	961					inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.E961K(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						GGCCAAGGAGGAGGCTGGCGG	0.677000													21	22					0	0	0.069288	0	0
COL11A1	1301	broad.mit.edu	37	1	103488336	103488336	+	Missense_Mutation	SNP	G	G	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr1:103488336G>T	ENST00000358392.2	-	8	1560	c.1243C>A	c.(1243-1245)Cca>Aca	p.P415T	COL11A1_ENST00000512756.1_Intron|COL11A1_ENST00000353414.4_Missense_Mutation_p.P364T|COL11A1_ENST00000370096.3_Missense_Mutation_p.P403T	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	403	Nonhelical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	p.P403T(1)|p.P415T(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GGTACACCTGGACCAAATTCT	0.343000													4	40					0.150653	0.152288	0.150653	1	0
NNMT	4837	broad.mit.edu	37	11	114167428	114167428	+	Silent	SNP	C	C	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr11:114167428C>T	ENST00000535401.1	+	3	414	c.150C>T	c.(148-150)tgC>tgT	p.C50C	RP11-64D24.2_ENST00000544925.1_RNA|NNMT_ENST00000299964.3_Silent_p.C50C			P40261	NNMT_HUMAN	nicotinamide N-methyltransferase	50					xenobiotic metabolic process	cytosol	nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity	p.C50C(1)		kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	AGATATTCTGCCTAGGTAAGT	0.428000													7	36					0	0	0.047766	0	0
FAM13C	220965	broad.mit.edu	37	10	61112135	61112135	+	Silent	SNP	G	G	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr10:61112135G>A	ENST00000277705.6	-	3	320	c.219C>T	c.(217-219)acC>acT	p.T73T	FAM13C_ENST00000373868.2_Silent_p.T73T|FAM13C_ENST00000442566.3_Silent_p.T73T|FAM13C_ENST00000435852.2_Silent_p.T73T|FAM13C_ENST00000468840.2_5'UTR|FAM13C_ENST00000419214.2_Silent_p.T73T|FAM13C_ENST00000373867.3_5'UTR|FAM13C_ENST00000422313.2_Silent_p.T73T			Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	73								p.T73T(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CCACCAGCACGGTCGCCTCTA	0.582000													21	5					0	0	0.062417	0	0
FPR2	2358	broad.mit.edu	37	19	52272196	52272196	+	Missense_Mutation	SNP	G	G	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr19:52272196G>T	ENST00000598776.1	+	2	1057	c.285G>T	c.(283-285)tgG>tgT	p.W95C	FPR2_ENST00000598953.1_Missense_Mutation_p.W95C|FPR2_ENST00000340023.6_Missense_Mutation_p.W95C	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	95					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity	p.W95C(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						CTTTTGGCTGGTTCCTGTGTA	0.478000													69	101					6.72169e-28	1.00198e-27	0.139131	1	0
TUBA3D	113457	broad.mit.edu	37	2	132235885	132235885	+	Missense_Mutation	SNP	C	C	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr2:132235885C>A	ENST00000321253.6	+	2	259	c.152C>A	c.(151-153)aCg>aAg	p.T51K		NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	51					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	p.T51K(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		TCCTTCAACACGTTCTTCAGT	0.562000													12	27					2.32078e-09	2.82026e-09	0.132662	1	0
ZNF8	7554	broad.mit.edu	37	19	58806789	58806789	+	Missense_Mutation	SNP	G	G	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr19:58806789G>A	ENST00000196548.5	+	4	1746	c.1615G>A	c.(1615-1617)Gct>Act	p.A539T	AC010642.1_ENST00000591325.1_3'UTR	NM_021089.2	NP_066575.2	P17098	ZNF8_HUMAN	zinc finger protein 8	539					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A539T(1)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	19		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)		CAGAGCCCTGGCTTTGTTTGA	0.517000													32	83					0	0	0.153744	0	0
KCNB2	9312	broad.mit.edu	37	8	73849991	73849991	+	Missense_Mutation	SNP	A	A	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr8:73849991A>T	ENST00000523207.1	+	3	2989	c.2401A>T	c.(2401-2403)Agg>Tgg	p.R801W		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	801					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	p.R801W(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			TTCAAGAGAGAGGAGGAGCTT	0.537000													37	21					0	0	0.203993	0	0
MAS1	4142	broad.mit.edu	37	6	160328457	160328457	+	Missense_Mutation	SNP	G	G	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr6:160328457G>T	ENST00000252660.4	+	1	484	c.470G>T	c.(469-471)tGg>tTg	p.W157L		NM_002377.2	NP_002368.1	P04201	MAS_HUMAN	MAS1 oncogene	157					anatomical structure morphogenesis|cell proliferation|protein kinase C signaling cascade	integral to plasma membrane	angiotensin type II receptor activity	p.W157L(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06)		GCCCTTCTGTGGGCTCTTTCT	0.532000													39	78					1.32136e-16	1.83285e-16	0.104719	1	0
DAXX	1616	broad.mit.edu	37	6	33286531	33286531	+	Missense_Mutation	SNP	C	C	G			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr6:33286531C>G	ENST00000374542.5	-	8	2416	c.2212G>C	c.(2212-2214)Gac>Cac	p.D738H	DAXX_ENST00000266000.6_Missense_Mutation_p.D738H|DAXX_ENST00000414083.2_Missense_Mutation_p.D663H	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	738	Interaction with SPOP.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding	p.D738H(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						TAATCAGAGTCTGAGAGCACG	0.498000			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM								4	52					0	0	0.150653	0	0
NRG1	3084	broad.mit.edu	37	8	32621438	32621438	+	Missense_Mutation	SNP	G	G	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr8:32621438G>T	ENST00000338921.4	+	13	1982	c.1465G>T	c.(1465-1467)Gtg>Ttg	p.V489L	NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000405005.2_Missense_Mutation_p.V481L|NRG1_ENST00000287842.3_Missense_Mutation_p.V478L|NRG1_ENST00000287845.5_Missense_Mutation_p.V452L|NRG1_ENST00000539990.1_Missense_Mutation_p.V324L|NRG1_ENST00000356819.4_Missense_Mutation_p.V486L|NRG1_ENST00000519301.1_Missense_Mutation_p.V431L|NRG1_ENST00000287840.5_Missense_Mutation_p.V481L|NRG1_ENST00000521670.1_3'UTR			Q02297	NRG1_HUMAN	neuregulin 1	481					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity	p.V486L(2)|p.V486M(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		TCTACTTCTCGTGACACCACC	0.582000													21	37					1.01871e-10	1.30014e-10	0.204396	1	0
ASAP1	50807	broad.mit.edu	37	8	131199494	131199494	+	Missense_Mutation	SNP	T	T	C			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr8:131199494T>C	ENST00000357668.1	-	6	545	c.518A>G	c.(517-519)tAt>tGt	p.Y173C	ASAP1_ENST00000518721.1_Missense_Mutation_p.Y173C			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	173					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	p.Y173C(1)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						CTTTGTCTCATAATCTTTCCA	0.269000													13	34					0	0	0.132662	0	0
RYR2	6262	broad.mit.edu	37	1	237789019	237789019	+	Silent	SNP	G	G	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr1:237789019G>T	ENST00000366574.2	+	40	6398	c.6081G>T	c.(6079-6081)ggG>ggT	p.G2027G	RYR2_ENST00000542537.1_Silent_p.G2011G|RYR2_ENST00000360064.6_Silent_p.G2025G	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2027	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.G2025G(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CAATTAGAGGGCGTCTGCTAT	0.388000													20	24					0.000132079	0.000142809	0.204396	1	0
LGALS3BP	3959	broad.mit.edu	37	17	76968265	76968265	+	Missense_Mutation	SNP	T	T	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr17:76968265T>A	ENST00000262776.3	-	6	1459	c.1151A>T	c.(1150-1152)cAc>cTc	p.H384L	LGALS3BP_ENST00000591778.1_3'UTR	NM_005567.3	NP_005558.1	Q08380	LG3BP_HUMAN	lectin, galactoside-binding, soluble, 3 binding protein	384					cell adhesion|cellular defense response	extracellular space|membrane|proteinaceous extracellular matrix	protein binding|scavenger receptor activity	p.H384L(1)		NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			GGGCACAGTGTGGAATTCCAG	0.577000											OREG0024787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	35	28					0	0	0.193644	0	0
CDR2	1039	broad.mit.edu	37	16	22358637	22358637	+	Silent	SNP	C	C	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr16:22358637C>T	ENST00000268383.2	-	5	1321	c.1014G>A	c.(1012-1014)gtG>gtA	p.V338V		NM_001802.1	NP_001793.1	Q01850	CDR2_HUMAN	cerebellar degeneration-related protein 2, 62kDa	338						nucleus	protein binding	p.V338V(1)		endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(48;0.0188)		CCCTCTGTTTCACAGCCTTGG	0.572000													5	43					0	0	0.184627	0	0
C1orf173	127254	broad.mit.edu	37	1	75037223	75037223	+	Missense_Mutation	SNP	C	C	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr1:75037223C>A	ENST00000326665.5	-	14	4389	c.4171G>T	c.(4171-4173)Gat>Tat	p.D1391Y	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1391	Glu-rich.							p.D1391Y(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						ACTAACTCATCCTGTTGGTGC	0.517000													15	84					1.5739e-10	1.99956e-10	0.146539	1	0
TRAM1	23471	broad.mit.edu	37	8	71510383	71510383	+	Missense_Mutation	SNP	C	C	G			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr8:71510383C>G	ENST00000521425.1	-	3	1073	c.37G>C	c.(37-39)Gag>Cag	p.E13Q	TRAM1_ENST00000536748.1_Missense_Mutation_p.E68Q|TRAM1_ENST00000262213.2_Missense_Mutation_p.E99Q|TRAM1_ENST00000521049.1_Intron			Q15629	TRAM1_HUMAN	translocation associated membrane protein 1	99					cotranslational protein targeting to membrane|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity	p.E99Q(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			AACATATACTCTTGAATTACG	0.313000													6	46					0	0	0.047766	0	0
ANKS1B	56899	broad.mit.edu	37	12	99793432	99793432	+	Missense_Mutation	SNP	T	T	G			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr12:99793432T>G	ENST00000547776.2	-	12	1732	c.1733A>C	c.(1732-1734)aAg>aCg	p.K578T	ANKS1B_ENST00000329257.7_Missense_Mutation_p.K578T|ANKS1B_ENST00000547010.1_Missense_Mutation_p.K158T	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	578						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		p.K578T(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TCCCTCATTCTTGACTTCTGT	0.408000													7	58					0	0	0.029380	0	0
PLEK	5341	broad.mit.edu	37	2	68607461	68607461	+	Splice_Site	SNP	G	G	C			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr2:68607461G>C	ENST00000234313.7	+	2	223	c.42_splice	c.e2-1	p.G15_splice		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	15	PH 1.				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding	p.G15A(1)		autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		TCATTACAGGGGAGCGTGTTC	0.393000													16	16					0	0	0.175082	0	0
IPMK	253430	broad.mit.edu	37	10	59997555	59997555	+	Missense_Mutation	SNP	C	C	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr10:59997555C>A	ENST00000373935.3	-	2	533	c.211G>T	c.(211-213)Ggc>Tgc	p.G71C		NM_152230.4	NP_689416.1	Q8NFU5	IPMK_HUMAN	inositol polyphosphate multikinase	71						nucleus	ATP binding|inositol trisphosphate 6-kinase activity	p.G71F(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)	22						AAAACTGTGCCATCTGGATGT	0.348000													20	15					3.62473e-10	4.53294e-10	0.062417	1	0
TRDMT1	1787	broad.mit.edu	37	10	17199442	17199442	+	Missense_Mutation	SNP	T	T	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr10:17199442T>A	ENST00000377799.3	-	8	932	c.885A>T	c.(883-885)aaA>aaT	p.K295N	TRDMT1_ENST00000351358.4_Missense_Mutation_p.K249N|TRDMT1_ENST00000488990.1_Missense_Mutation_p.K172N|TRDMT1_ENST00000358282.7_3'UTR|TRDMT1_ENST00000412821.3_Missense_Mutation_p.K271N|TRDMT1_ENST00000457442.2_Missense_Mutation_p.K214N|TRDMT1_ENST00000452380.2_5'UTR|TRDMT1_ENST00000377766.5_3'UTR	NM_004412.5	NP_004403.1	O14717	TRDMT_HUMAN	tRNA aspartic acid methyltransferase 1	295					tRNA processing	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|RNA binding	p.K295N(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	18						AAACCTACCCTTTGGTAAAGC	0.363000													39	22					0	0	0.111260	0	0
ZNF165	7718	broad.mit.edu	37	6	28056916	28056916	+	Missense_Mutation	SNP	G	G	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr6:28056916G>A	ENST00000377325.1	+	4	1682	c.1126G>A	c.(1126-1128)Gaa>Aaa	p.E376K		NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN	zinc finger protein 165	376					viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E376K(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TGAATGTAATGAATGTGGGAA	0.443000													17	36					0	0	0.160694	0	0
CDH6	1004	broad.mit.edu	37	5	31316316	31316316	+	Splice_Site	SNP	T	T	G			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr5:31316316T>G	ENST00000265071.2	+	9	1657	c.1390_splice	c.e9-1	p.N464_splice	CDH6_ENST00000514738.1_Splice_Site_p.N409_splice	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	464	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	p.N464K(1)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TTGTGACAGATAATCCAAAGC	0.378000													9	67					0	0	0.058154	0	0
SPAG17	200162	broad.mit.edu	37	1	118609489	118609489	+	Missense_Mutation	SNP	C	C	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr1:118609489C>A	ENST00000336338.5	-	18	2484	c.2419G>T	c.(2419-2421)Gtt>Ttt	p.V807F		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	807						cilium|flagellar axoneme|microtubule		p.V807F(1)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TAAGAATCAACACACCTATAT	0.358000													13	48					1.61879e-10	2.0473e-10	0.093190	1	0
ADAMTSL1	92949	broad.mit.edu	37	9	18777726	18777726	+	Silent	SNP	C	C	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr9:18777726C>T	ENST00000380548.4	+	19	3838	c.3499C>T	c.(3499-3501)Ctg>Ttg	p.L1167L		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1167	Ig-like C2-type 2.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	p.(=)(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GCCCACCATCCTGCGCAAGAT	0.667000													6	11					0	0	0.021553	0	0
CTCF	10664	broad.mit.edu	37	16	67660607	67660607	+	Missense_Mutation	SNP	G	G	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr16:67660607G>A	ENST00000264010.4	+	8	1951	c.1507G>A	c.(1507-1509)Gct>Act	p.A503T	CTCF_ENST00000401394.1_Missense_Mutation_p.A175T	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	503					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	p.A503S(1)|p.A503T(1)		breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		GTGTGATTACGCTTGTAGACA	0.448000													25	8					0	0	0.091800	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136099	40136099	+	Nonsense_Mutation	SNP	C	C	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr11:40136099C>A	ENST00000278198.2	-	2	3707	c.1744G>T	c.(1744-1746)Gaa>Taa	p.E582*	LRRC4C_ENST00000528697.1_Nonsense_Mutation_p.E582*|LRRC4C_ENST00000530763.1_Nonsense_Mutation_p.E582*|LRRC4C_ENST00000527150.1_Nonsense_Mutation_p.E582*			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	582					regulation of axonogenesis	integral to membrane	protein binding	p.M581_E582>I*(1)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				AGGTGGCTTTCCATGGGTGTG	0.448000													17	90					1.15088e-07	1.33473e-07	0.146539	1	0
EPN2	22905	broad.mit.edu	37	17	19213203	19213203	+	Missense_Mutation	SNP	T	T	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr17:19213203T>A	ENST00000314728.5	+	5	1256	c.772T>A	c.(772-774)Tcc>Acc	p.S258T	EPN2_ENST00000347697.2_Missense_Mutation_p.S201T|EPN2_ENST00000395626.1_Missense_Mutation_p.S258T|EPN2_ENST00000395620.2_Missense_Mutation_p.S201T|EPN2_ENST00000571254.1_Missense_Mutation_p.S201T|EPN2_ENST00000395618.3_5'UTR|EPN2_ENST00000575595.1_5'UTR	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN	epsin 2	258					endocytosis		lipid binding	p.S258T(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					AACAGCCACCTCCCCGCGAGT	0.572000													13	49					0	0	0.132662	0	0
YJEFN3	374887	broad.mit.edu	37	19	19646177	19646177	+	Missense_Mutation	SNP	G	G	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr19:19646177G>A	ENST00000555938.1	+	6	470	c.458G>A	c.(457-459)cGc>cAc	p.R153H	YJEFN3_ENST00000514277.3_Missense_Mutation_p.R154H|YJEFN3_ENST00000436027.4_Missense_Mutation_p.R104H														p.R154H(1)									TACCCCACACGCTCGCTGGAC	0.627000													6	13					0	0	0.021553	0	0
CCDC178	374864	broad.mit.edu	37	18	30992034	30992034	+	Missense_Mutation	SNP	C	C	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr18:30992034C>A	ENST00000383096.3	-	3	201	c.19G>T	c.(19-21)Gtt>Ttt	p.V7F	CCDC178_ENST00000403303.1_Missense_Mutation_p.V7F|CCDC178_ENST00000300227.8_Missense_Mutation_p.V7F|CCDC178_ENST00000579947.1_Missense_Mutation_p.V7F|CCDC178_ENST00000402325.1_Missense_Mutation_p.V7F|CCDC178_ENST00000406524.2_Missense_Mutation_p.V7F|CCDC178_ENST00000579916.1_Missense_Mutation_p.V7F|CCDC178_ENST00000583930.1_Missense_Mutation_p.V7F					coiled-coil domain containing 178									p.V7F(2)									GAAGAGGAAACTGTCTTGTTT	0.224000													6	17					3.59834e-05	3.92865e-05	0.021553	1	0
NR4A2	4929	broad.mit.edu	37	2	157184934	157184934	+	Missense_Mutation	SNP	C	C	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr2:157184934C>A	ENST00000339562.4	-	4	1338	c.976G>T	c.(976-978)Gtt>Ttt	p.V326F	NR4A2_ENST00000429376.1_Missense_Mutation_p.V263F|NR4A2_ENST00000409572.1_Missense_Mutation_p.V326F|NR4A2_ENST00000426264.1_Missense_Mutation_p.V263F|NR4A2_ENST00000409108.2_Missense_Mutation_p.V326F|NR4A2_ENST00000539077.1_Missense_Mutation_p.V337F	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	326					cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.V326F(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						ACCATCCCAACAGCCAGGCAC	0.507000													18	35					1.01871e-10	1.30014e-10	0.204396	1	0
STAU1	6780	broad.mit.edu	37	20	47739709	47739709	+	Missense_Mutation	SNP	G	G	C			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr20:47739709G>C	ENST00000371828.3	-	8	1148	c.661C>G	c.(661-663)Cag>Gag	p.Q221E	STAU1_ENST00000340954.7_Missense_Mutation_p.Q215E|STAU1_ENST00000371802.1_Missense_Mutation_p.Q221E|STAU1_ENST00000360426.4_Missense_Mutation_p.Q215E|STAU1_ENST00000371856.2_Missense_Mutation_p.Q296E|STAU1_ENST00000371792.1_Missense_Mutation_p.Q213E|STAU1_ENST00000347458.5_Missense_Mutation_p.Q215E	NM_001037328.1|NM_004602.2	NP_001032405.1|NP_004593.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	296	DRBM 2.					microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding	p.Q296E(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			TTTTTTGCCTGCTGGATCTGG	0.552000													6	80					0	0	0.021553	0	0
ZNF217	7764	broad.mit.edu	37	20	52193535	52193535	+	Missense_Mutation	SNP	C	C	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr20:52193535C>T	ENST00000371471.2	-	4	2193	c.1768G>A	c.(1768-1770)Gct>Act	p.A590T	ZNF217_ENST00000302342.3_Missense_Mutation_p.A590T			O75362	ZN217_HUMAN	zinc finger protein 217	590					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.A590T(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			GAGAGGACAGCGCTGCCCAGA	0.433000													37	86					0	0	0.193644	0	0
SETDB1	9869	broad.mit.edu	37	1	150933451	150933451	+	Silent	SNP	T	T	G			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr1:150933451T>G	ENST00000271640.5	+	16	3103	c.2913T>G	c.(2911-2913)ccT>ccG	p.P971P	SETDB1_ENST00000368969.4_Silent_p.P971P	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	971	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding	p.P971P(1)		NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			GCAATCCACCTTCCTCCGAAG	0.522000													10	84					0	0	0.069234	0	0
FCRL1	115350	broad.mit.edu	37	1	157773709	157773709	+	Missense_Mutation	SNP	C	C	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr1:157773709C>A	ENST00000358292.3	-	3	296	c.245G>T	c.(244-246)gGg>gTg	p.G82V	FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000491942.1_Missense_Mutation_p.G82V|FCRL1_ENST00000368176.3_Missense_Mutation_p.G82V	NM_001159397.1	NP_001152869.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	82	Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity	p.G82V(2)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CCAGTATGACCCTGTGTCTTC	0.567000													12	102					7.03913e-09	8.38992e-09	0.093190	1	0
DMXL2	23312	broad.mit.edu	37	15	51741341	51741341	+	Missense_Mutation	SNP	T	T	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr15:51741341T>A	ENST00000251076.5	-	43	9238	c.8951A>T	c.(8950-8952)cAt>cTt	p.H2984L	DMXL2_ENST00000543779.2_Missense_Mutation_p.H2985L|DMXL2_ENST00000449909.3_Missense_Mutation_p.H2348L|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2984				H -> Y (in Ref. 1; AAL93215).		cell junction|synaptic vesicle membrane	Rab GTPase binding	p.H2984L(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		CTGCTTAGCATGTTCACTTTT	0.428000													16	22					0	0	0.189662	0	0
ZNF462	58499	broad.mit.edu	37	9	109691376	109691376	+	Missense_Mutation	SNP	A	A	G			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr9:109691376A>G	ENST00000277225.5	+	3	5472	c.5183A>G	c.(5182-5184)cAc>cGc	p.H1728R	ZNF462_ENST00000457913.1_Missense_Mutation_p.H1728R|ZNF462_ENST00000441147.2_Missense_Mutation_p.H573R			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1728					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H1728R(1)		NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						TATTACACTCACTGCTTGGCA	0.582000													4	15					0	0	0.150653	0	0
LINC00264	645528	broad.mit.edu	37	10	26880266	26880266	+	RNA	SNP	G	G	A	rs138111133	by1000genomes	TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr10:26880266G>A	ENST00000412114.1	+	0	501					NR_026793.1																						ACCAAGCCCAGTGGACAGATG	0.443000													3	22					0	0	0.115264	0	0
RILPL1	353116	broad.mit.edu	37	12	123983237	123983237	+	Missense_Mutation	SNP	C	C	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr12:123983237C>A	ENST00000376874.4	-	4	890	c.655G>T	c.(655-657)Ggg>Tgg	p.G219W	RILPL1_ENST00000340724.6_Missense_Mutation_p.G67W	NM_178314.3	NP_847884.2	Q5EBL4	RIPL1_HUMAN	Rab interacting lysosomal protein-like 1	219					neuroprotection	cytosol		p.G219W(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.00067)|all cancers(50;0.00836)|BRCA - Breast invasive adenocarcinoma(302;0.197)		AGGGCTTTCCCCTGGGCCTCC	0.587000													64	39					7.1157e-29	1.06355e-28	0.139131	1	0
MCMDC2	157777	broad.mit.edu	37	8	67813464	67813464	+	Missense_Mutation	SNP	G	G	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr8:67813464G>T	ENST00000422365.2	+	13	1821	c.1650G>T	c.(1648-1650)ttG>ttT	p.L550F	MCMDC2_ENST00000396592.3_Missense_Mutation_p.L550F|MCMDC2_ENST00000313616.5_Missense_Mutation_p.L550F|MCMDC2_ENST00000541540.1_Missense_Mutation_p.L487F	NM_173518.4	NP_775789.3	Q4G0Z9	CH045_HUMAN	minichromosome maintenance domain containing 2	550					DNA replication		ATP binding|DNA binding	p.L550F(2)|p.L545F(1)		endometrium(2)|kidney(2)|lung(5)	9						CAAAGAATTTGAATGTAGAAT	0.358000													8	55					0.0381472	0.038913	0.038147	1	0
FAT2	2196	broad.mit.edu	37	5	150945342	150945342	+	Missense_Mutation	SNP	C	C	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr5:150945342C>T	ENST00000261800.5	-	1	3163	c.3151G>A	c.(3151-3153)Gtg>Atg	p.V1051M		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1051	Cadherin 9.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	p.V1051M(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACTACAATCACCTGAGTTCCC	0.592000													7	36					0	0	0.038147	0	0
CHIT1	1118	broad.mit.edu	37	1	203192741	203192741	+	Missense_Mutation	SNP	T	T	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr1:203192741T>A	ENST00000367229.1	-	5	396	c.362A>T	c.(361-363)aAc>aTc	p.N121I	CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000255427.3_Missense_Mutation_p.N102I|CHIT1_ENST00000535569.1_Missense_Mutation_p.N112I	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	121					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity	p.N121I(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						GATGGCCGAGTTGACAAAGGT	0.582000													44	53					0	0	0.131918	0	0
DNAH7	56171	broad.mit.edu	37	2	196698983	196698983	+	Missense_Mutation	SNP	C	C	G			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr2:196698983C>G	ENST00000312428.6	-	48	9147	c.9047G>C	c.(9046-9048)aGt>aCt	p.S3016T		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3016	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.S3016T(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GTCAGGTTCACTAAGTTTAAT	0.393000													24	35					0	0	0.076483	0	0
COL1A2	1278	broad.mit.edu	37	7	94039086	94039086	+	Missense_Mutation	SNP	C	C	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr7:94039086C>A	ENST00000297268.6	+	19	1459	c.988C>A	c.(988-990)Cct>Act	p.P330T		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	330					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	p.P330T(1)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CCGCGGTATTCCTGGCCCTGT	0.587000										HNSCC(75;0.22)			24	69					6.32553e-13	8.39898e-13	0.099896	1	0
SEMA4F	10505	broad.mit.edu	37	2	74902162	74902162	+	Splice_Site	SNP	G	G	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr2:74902162G>T	ENST00000357877.2	+	9	1298	c.1149_splice	c.e9+1	p.E383_splice	SEMA4F_ENST00000473350.1_3'UTR|SEMA4F_ENST00000339773.5_Splice_Site_p.E228_splice	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	383	Sema.				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity	p.E383D(1)		biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						GACCTGGAGAGGTGAGGGGGC	0.522000											OREG0014721	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	21					3.28513e-13	4.37235e-13	0.091800	1	0
TP53	7157	broad.mit.edu	37	17	7577559	7577559	+	Missense_Mutation	SNP	G	G	A	rs28934573		TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr17:7577559G>A	ENST00000420246.2	-	7	854	c.722C>T	c.(721-723)tCc>tTc	p.S241F	TP53_ENST00000413465.2_Missense_Mutation_p.S241F|TP53_ENST00000455263.2_Missense_Mutation_p.S241F|TP53_ENST00000359597.4_Missense_Mutation_p.S241F|TP53_ENST00000269305.4_Missense_Mutation_p.S241F|TP53_ENST00000445888.2_Missense_Mutation_p.S241F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	241	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		S -> A (in sporadic cancers; somatic mutation).|S -> C (in sporadic cancers; somatic mutation).|S -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934573).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|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.S241F(85)|p.S241C(26)|p.0?(8)|p.S241Y(8)|p.C242fs*5(6)|p.?(5)|p.S241del(5)|p.S148F(4)|p.N239_C242delNSSC(3)|p.N239_C242>S(1)|p.C238fs*21(1)|p.S241fs*22(1)|p.N239_C242del(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.S148C(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(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)		GCCCATGCAGGAACTGTTACA	0.572000		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)			24	10					0	0	0.099896	0	0
ZP4	57829	broad.mit.edu	37	1	238048522	238048522	+	Silent	SNP	G	G	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr1:238048522G>A	ENST00000366570.4	-	9	1412	c.1254C>T	c.(1252-1254)agC>agT	p.S418S	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	418	ZP.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	p.S418S(1)		breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			AGGTGAAGATGCTGAAGCGCT	0.542000													11	20					0	0	0.105934	0	0
CDH18	1016	broad.mit.edu	37	5	19473547	19473547	+	Missense_Mutation	SNP	C	C	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr5:19473547C>A	ENST00000507958.1	-	15	3151	c.2161G>T	c.(2161-2163)Gca>Tca	p.A721S	CDH18_ENST00000274170.4_Missense_Mutation_p.A721S|CDH18_ENST00000510297.1_5'UTR|CDH18_ENST00000382275.1_Missense_Mutation_p.A721S			Q13634	CAD18_HUMAN	cadherin 18, type 2	721					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A721S(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TCTGCTTCTGCCAGTCTTTGC	0.498000													58	42					9.59835e-30	1.44233e-29	0.139131	1	0
CXCR2P1	3580	broad.mit.edu	37	2	218924976	218924976	+	RNA	SNP	C	C	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr2:218924976C>A	ENST00000439871.1	-	0	1404					NR_002712.1																						ACACTGAGACCAAGAAGAGCT	0.532000													17	24					7.05477e-17	9.83445e-17	0.160694	1	0
EPN1	29924	broad.mit.edu	37	19	56196893	56196893	+	Silent	SNP	C	C	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr19:56196893C>T	ENST00000411543.2	+	4	1240	c.693C>T	c.(691-693)ggC>ggT	p.G231G	EPN1_ENST00000591743.1_3'UTR|EPN1_ENST00000270460.6_Silent_p.G120G|EPN1_ENST00000085079.7_Silent_p.G120G	NM_001130071.1	NP_001123543.1	Q9Y6I3	EPN1_HUMAN	epsin 1	120					endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|cytoplasm|nucleus|plasma membrane	lipid binding	p.G120G(1)|p.G231G(1)		endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		AGGACCAGGGCGTGAACGTGC	0.652000													3	4					0	0	0.115264	0	0
PTF1A	256297	broad.mit.edu	37	10	23481565	23481565	+	Missense_Mutation	SNP	C	C	G			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr10:23481565C>G	ENST00000376504.3	+	1	310	c.106C>G	c.(106-108)Ctg>Gtg	p.L36V		NM_178161.2	NP_835455.1	Q7RTS3	PTF1A_HUMAN	pancreas specific transcription factor, 1a	36					endocrine pancreas development|exocrine pancreas development|regulation of transcription, DNA-dependent|tissue development|transcription, DNA-dependent	cytoplasm|transcription factor complex		p.L36V(1)		endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						ACGGGACCCCCTGGAGGACGG	0.647000													26	10					0	0	0.144211	0	0
CILP2	148113	broad.mit.edu	37	19	19655656	19655656	+	Missense_Mutation	SNP	G	G	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr19:19655656G>T	ENST00000586018.1	+	8	2422	c.2320G>T	c.(2320-2322)Gcc>Tcc	p.A774S	CILP2_ENST00000291495.4_Missense_Mutation_p.A768S			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	768						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity	p.A768S(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						TCTGGAGCCCGCCCCCGGCTT	0.711000													5	6					0.000602214	0.000637572	0.184627	1	0
PRG4	10216	broad.mit.edu	37	1	186277271	186277271	+	Missense_Mutation	SNP	C	C	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr1:186277271C>A	ENST00000445192.2	+	7	2465	c.2420C>A	c.(2419-2421)aCc>aAc	p.T807N	PRG4_ENST00000367483.4_Missense_Mutation_p.T766N|PRG4_ENST00000367485.4_Missense_Mutation_p.T714N|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Missense_Mutation_p.T764N	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	807	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	p.T807N(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CCCACCACCACCAAGGGGCCC	0.602000													40	146					2.66277e-13	3.56951e-13	0.092188	1	0
CTNND2	1501	broad.mit.edu	37	5	11732322	11732322	+	Missense_Mutation	SNP	C	C	T	rs151129181	byFrequency	TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr5:11732322C>T	ENST00000304623.8	-	2	289	c.100G>A	c.(100-102)Ggc>Agc	p.G34S	CTNND2_ENST00000359640.2_Missense_Mutation_p.G34S|CTNND2_ENST00000458100.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	34					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.G34S(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GTGTTTAAGCCGGGGCTCAGG	0.498000													7	96					0	0	0.029380	0	0
CT47A6	728062	broad.mit.edu	37	X	120094450	120094450	+	Silent	SNP	G	G	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chrX:120094450G>T	ENST00000443600.2	-	1	887	c.633C>A	c.(631-633)ccC>ccA	p.P211P	CT47A5_ENST00000419194.2_Intron	NM_001080141.1	NP_001073610.1	Q5JQC4	CT47A_HUMAN	cancer/testis antigen family 47, member A6	211								p.P211P(1)		large_intestine(1)|lung(4)	5						CCTCCTCCGCGGGCTCCCTGG	0.701000													137	25					6.60522e-78	1.01717e-77	0.139131	1	0
SAA3P	6290	broad.mit.edu	37	11	18134834	18134834	+	RNA	SNP	C	C	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr11:18134834C>A	ENST00000534768.1	-	0	147					NR_026576.1													p.G31V(1)		lung(2)	2						GTCTTTAGTCCCTGGAAAGGA	0.378000													3	0					0.115264	0.116938	0.115264	1	0
PTGIS	5740	broad.mit.edu	37	20	48129765	48129765	+	Missense_Mutation	SNP	G	G	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr20:48129765G>T	ENST00000244043.4	-	8	1087	c.1058C>A	c.(1057-1059)gCt>gAt	p.A353D	PTGIS_ENST00000478971.1_5'UTR	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	353					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity	p.A353D(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	GAAGGGGGCAGCTGTAAGCCT	0.612000													7	41					0.00307968	0.00319989	0.038147	1	0
DDX26B	203522	broad.mit.edu	37	X	134713798	134713798	+	Silent	SNP	A	A	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chrX:134713798A>T	ENST00000370752.4	+	15	2428	c.2094A>T	c.(2092-2094)ccA>ccT	p.P698P	DDX26B_ENST00000493637.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	698								p.P698P(1)		large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					AATCTGCTCCATCAGAGCTTA	0.438000													38	6					0	0	0.080422	0	0
ZNF208	7757	broad.mit.edu	37	19	22154536	22154536	+	Silent	SNP	A	A	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr19:22154536A>T	ENST00000397126.4	-	4	3448	c.3300T>A	c.(3298-3300)ctT>ctA	p.L1100L	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208									p.L972L(2)|p.L1100L(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TATGTTCCATAAGGTTTGAGG	0.408000													60	28					0	0	0.139131	0	0
PLCL2	23228	broad.mit.edu	37	3	17051999	17051999	+	Silent	SNP	A	A	G			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr3:17051999A>G	ENST00000418129.2	+	2	1248	c.783A>G	c.(781-783)aaA>aaG	p.K261K	PLCL2_ENST00000432376.1_Silent_p.K261K|PLCL2_ENST00000396755.2_Silent_p.K261K|PLCL2_ENST00000460467.1_Intron	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	387					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.K261K(1)		breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						TTATTCACAAATATGAACCAT	0.398000													23	21					0	0	0.091800	0	0
TDRD5	163589	broad.mit.edu	37	1	179587773	179587773	+	Missense_Mutation	SNP	C	C	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr1:179587773C>A	ENST00000444136.1	+	5	1121	c.871C>A	c.(871-873)Cct>Act	p.P291T	TDRD5_ENST00000294848.8_Missense_Mutation_p.P291T|TDRD5_ENST00000367614.1_Missense_Mutation_p.P291T	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	291					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	p.P291T(1)		NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						ACAGATTGGACCTGGAGGAAC	0.313000													17	34					3.32936e-07	3.79819e-07	0.175082	1	0
LDLR	3949	broad.mit.edu	37	19	11200278	11200278	+	Silent	SNP	G	G	C			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr19:11200278G>C	ENST00000558518.1	+	1	241	c.54G>C	c.(52-54)gcG>gcC	p.A18A	LDLR_ENST00000558013.1_Silent_p.A18A|LDLR_ENST00000455727.2_Silent_p.A18A|LDLR_ENST00000545707.1_Silent_p.A18A|LDLR_ENST00000557933.1_Silent_p.A18A|LDLR_ENST00000535915.1_Silent_p.A18A	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	18					cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	p.A19P(1)|p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	TCCTCGCCGCGGCGGGGACTG	0.627000													3	6					0	0	0.115264	0	0
C19orf53	28974	broad.mit.edu	37	19	13885476	13885476	+	Silent	SNP	C	C	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr19:13885476C>T	ENST00000588234.1	+	2	418	c.108C>T	c.(106-108)atC>atT	p.I36I		NM_014047.2	NP_054766.1	Q9UNZ5	L10K_HUMAN	chromosome 19 open reading frame 53	36								p.I36I(1)		breast(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	6			OV - Ovarian serous cystadenocarcinoma(19;7.7e-24)|Epithelial(5;2.53e-19)			GTCGTGTTATCGCTCCCAAGA	0.662000													3	60					0	0	0.150653	0	0
JTB	10899	broad.mit.edu	37	1	153949472	153949472	+	Missense_Mutation	SNP	A	A	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr1:153949472A>T	ENST00000271843.4	-	2	536	c.101T>A	c.(100-102)gTg>gAg	p.V34E	JTB_ENST00000368589.1_5'UTR|JTB_ENST00000356648.1_5'UTR|JTB_ENST00000471173.1_Intron	NM_006694.3	NP_006685.1	O76095	JTB_HUMAN	jumping translocation breakpoint	34					apoptosis|cell cycle cytokinesis|mitosis|positive regulation of protein kinase activity	integral to plasma membrane|membrane fraction|microtubule organizing center|midbody|mitochondrion|spindle	protein kinase binding	p.V34E(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)	10	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CTCTTCCTGCACGGGAGCCTC	0.527000													5	71					0	0	0.029380	0	0
KCNH7	90134	broad.mit.edu	37	2	163361085	163361085	+	Silent	SNP	A	A	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr2:163361085A>T	ENST00000332142.5	-	6	1095	c.996T>A	c.(994-996)atT>atA	p.I332I	KCNH7_ENST00000328032.4_Silent_p.I325I|KCNH7_ENST00000477019.1_5'UTR	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	332					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	p.I332I(1)|p.I325I(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TGAGCTGTGGAATCTTGTTAA	0.373000													42	53					0	0	0.098360	0	0
TNR	7143	broad.mit.edu	37	1	175331944	175331944	+	Splice_Site	SNP	C	C	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr1:175331944C>A	ENST00000367674.1	-	14	3417	c.2707_splice	c.e14-1	p.V903_splice	TNR_ENST00000263525.2_Splice_Site_p.V903_splice	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	903	Fibronectin type-III 7.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.G904*(1)|p.V903V(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CTAGTCGTCCCACTGGAGAAG	0.493000													18	56					2.4624e-09	2.97296e-09	0.204396	1	0
GPR153	387509	broad.mit.edu	37	1	6313779	6313779	+	Splice_Site	SNP	A	A	G			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr1:6313779A>G	ENST00000377893.2	-	3	1044	c.786_splice	c.e3+1	p.L262_splice		NM_207370.2	NP_997253.2	Q6NV75	GP153_HUMAN	G protein-coupled receptor 153	262						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.L262P(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1)	14	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)		GTCACCCACCAGCACAGGGAA	0.612000													15	37					0	0	0.132662	0	0
FOXQ1	94234	broad.mit.edu	37	6	1313599	1313599	+	Silent	SNP	G	G	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr6:1313599G>T	ENST00000296839.2	+	1	925	c.660G>T	c.(658-660)gcG>gcT	p.A220A		NM_033260.3	NP_150285.3	Q9C009	FOXQ1_HUMAN	forkhead box Q1	220					DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding	p.A220A(1)		lung(1)|urinary_tract(1)	2	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)		GCCAccgcgcgccggtccccg	0.796000													6	9					5.9392e-07	6.73431e-07	0.021553	1	0
USP25	29761	broad.mit.edu	37	21	17202921	17202921	+	Splice_Site	SNP	G	G	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr21:17202921G>A	ENST00000285681.2	+	15	2133		c.e15+1		USP25_ENST00000400183.2_Splice_Site|USP25_ENST00000351097.5_Intron|USP25_ENST00000285679.6_Splice_Site			Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25						protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.?(1)		breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		TATGATACAAGTAAGTGAAAT	0.254000													16	15					0	0	0.146539	0	0
AOC3	8639	broad.mit.edu	37	17	41004383	41004383	+	Silent	SNP	C	C	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr17:41004383C>T	ENST00000308423.2	+	1	1183	c.1023C>T	c.(1021-1023)ctC>ctT	p.L341L		NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	341					amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity	p.L341L(1)		breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	CCTTTGGCCTCGGAGCATTCA	0.552000													8	48					0	0	0.038147	0	0
UBR4	23352	broad.mit.edu	37	1	19525042	19525042	+	Missense_Mutation	SNP	T	T	C			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr1:19525042T>C	ENST00000375267.2	-	5	644	c.641A>G	c.(640-642)cAg>cGg	p.Q214R	UBR4_ENST00000375226.2_Missense_Mutation_p.Q214R|UBR4_ENST00000375254.3_Missense_Mutation_p.Q214R|UBR4_ENST00000375217.2_Missense_Mutation_p.Q214R			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	214					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	p.Q214R(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CACCAGAGTCTGTGTACTGAT	0.388000													19	33					0	0	0.189662	0	0
ZNF235	9310	broad.mit.edu	37	19	44792868	44792868	+	Silent	SNP	A	A	G			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr19:44792868A>G	ENST00000291182.4	-	5	822	c.720T>C	c.(718-720)gaT>gaC	p.D240D	ZNF235_ENST00000589248.1_Intron|ZNF235_ENST00000589799.1_Intron	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	240					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D240D(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				CTTTACCACAATCACTATTGC	0.368000													29	41					0	0	0.144211	0	0
CCDC60	160777	broad.mit.edu	37	12	119961558	119961558	+	Silent	SNP	C	C	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr12:119961558C>T	ENST00000327554.2	+	11	1629	c.1164C>T	c.(1162-1164)gcC>gcT	p.A388A	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	388								p.A388A(1)		endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		CCATGAGGGCCAAGTTTTACA	0.493000													25	11					0	0	0.099896	0	0
HTR4	3360	broad.mit.edu	37	5	147863923	147863923	+	Missense_Mutation	SNP	T	T	C			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr5:147863923T>C	ENST00000360693.3	-	7	1234	c.1096A>G	c.(1096-1098)Aga>Gga	p.R366G	HTR4_ENST00000314512.6_Intron|HTR4_ENST00000520514.1_Intron|HTR4_ENST00000362016.2_Intron|HTR4_ENST00000377888.3_Intron|HTR4_ENST00000521735.1_Intron|HTR4_ENST00000517929.1_Intron|HTR4_ENST00000521530.1_Intron|HTR4_ENST00000354217.2_Intron	NM_001040173.2	NP_001035263.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	359					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity	p.R366G(1)		endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	AAAATGTCTCTGTCAAACAGA	0.403000													22	13					0	0	0.083992	0	0
PLOD1	5351	broad.mit.edu	37	1	12012720	12012720	+	Silent	SNP	C	C	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr1:12012720C>T	ENST00000196061.4	+	5	534	c.507C>T	c.(505-507)gcC>gcT	p.A169A	PLOD1_ENST00000376369.3_Silent_p.A216A|PLOD1_ENST00000485046.1_3'UTR	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	169					epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity	p.A169A(2)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)	AACTGGTGGCCGAGTGGGAGG	0.587000													3	74					0	0	0.150653	0	0
UNC5D	137970	broad.mit.edu	37	8	35583900	35583900	+	Missense_Mutation	SNP	C	C	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr8:35583900C>A	ENST00000287272.2	+	9	1347	c.1327C>A	c.(1327-1329)Cat>Aat	p.H443N	UNC5D_ENST00000404895.2_Missense_Mutation_p.H512N|UNC5D_ENST00000416672.1_Missense_Mutation_p.H517N|UNC5D_ENST00000453357.2_Missense_Mutation_p.H507N|UNC5D_ENST00000449677.1_Missense_Mutation_p.H88N|UNC5D_ENST00000420357.1_Missense_Mutation_p.H445N			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	512					apoptosis|axon guidance	integral to membrane	receptor activity	p.H507N(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		GACTTTTCCCCATGGAAACAA	0.473000													15	46					3.45872e-05	3.79103e-05	0.146539	1	0
COG2	22796	broad.mit.edu	37	1	230795245	230795245	+	Silent	SNP	T	T	C			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr1:230795245T>C	ENST00000366669.4	+	2	223	c.108T>C	c.(106-108)tgT>tgC	p.C36C	COG2_ENST00000366668.3_Silent_p.C36C|COG2_ENST00000494371.1_3'UTR|COG2_ENST00000534989.1_5'UTR|COG2_ENST00000535166.1_5'UTR	NM_001145036.1|NM_007357.2	NP_001138508.1|NP_031383.1	Q14746	COG2_HUMAN	component of oligomeric golgi complex 2	36					Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity	p.C36C(1)		NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				TGTCTGACTGTAGGAAGCGGG	0.383000													25	38					0	0	0.108266	0	0
FANCD2OS	115795	broad.mit.edu	37	3	10146346	10146346	+	Missense_Mutation	SNP	C	C	G			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr3:10146346C>G	ENST00000450660.2	-	2	329	c.113G>C	c.(112-114)tGc>tCc	p.C38S	FANCD2OS_ENST00000524279.1_Missense_Mutation_p.C38S	NM_001164839.1	NP_001158311.1			FANCD2 opposite strand									p.C38S(1)									GTGTGGGAAGCAGGGGGAGGC	0.567000													24	13					0	0	0.091800	0	0
UBAP1	51271	broad.mit.edu	37	9	34249927	34249927	+	Missense_Mutation	SNP	G	G	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr9:34249927G>A	ENST00000536252.1	+	6	1632	c.1234G>A	c.(1234-1236)Gcc>Acc	p.A412T	UBAP1_ENST00000545103.1_Missense_Mutation_p.A476T|UBAP1_ENST00000543944.1_Missense_Mutation_p.A448T|UBAP1_ENST00000379186.4_Intron|UBAP1_ENST00000540348.1_Missense_Mutation_p.A412T|UBAP1_ENST00000359544.2_Missense_Mutation_p.A412T|UBAP1_ENST00000297661.4_Missense_Mutation_p.A412T	NM_001171203.2	NP_001164674.1	Q9NZ09	UBAP1_HUMAN	ubiquitin associated protein 1	412	UBA 1.					cytoplasm		p.A476T(1)|p.A412T(1)		endometrium(4)|kidney(2)|lung(6)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(29;0.00272)			TGTCCTCAGAGCCATGAAGAA	0.582000													11	54					0	0	0.080935	0	0
PLG	5340	broad.mit.edu	37	6	161135923	161135923	+	Missense_Mutation	SNP	C	C	G			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr6:161135923C>G	ENST00000308192.9	+	6	708	c.645C>G	c.(643-645)caC>caG	p.H215Q		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	215	Kringle 2.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	p.H215Q(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	AGAGCCCACACGCTCATGGAT	0.448000													7	25					0	0	0.038147	0	0
CBLC	23624	broad.mit.edu	37	19	45303666	45303666	+	Missense_Mutation	SNP	C	C	G			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr19:45303666C>G	ENST00000270279.3	+	10	1454	c.1391C>G	c.(1390-1392)gCt>gGt	p.A464G	CBLC_ENST00000341505.4_Missense_Mutation_p.A418G	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN	Cbl proto-oncogene C, E3 ubiquitin protein ligase	464					cell surface receptor linked signaling pathway|negative regulation of epidermal growth factor receptor activity|negative regulation of MAP kinase activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	p.A464G(1)		breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				TCCCCTCCAGCTGCGCTGGGA	0.617000			M		AML						OREG0025543	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	28					0	0	0.083992	0	0
WISP1	8840	broad.mit.edu	37	8	134203380	134203380	+	Silent	SNP	G	G	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr8:134203380G>A	ENST00000377863.2	+	1	54	c.18G>A	c.(16-18)acG>acA	p.T6T	WISP1_ENST00000519433.1_5'UTR|WISP1_ENST00000517423.1_5'UTR|WISP1_ENST00000250160.6_5'UTR|WISP1_ENST00000220856.6_5'UTR			O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	0					cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			TGCCACTGACGTCCAGGCATG	0.677000													6	16					0	0	0.021553	0	0
CDK6	1021	broad.mit.edu	37	7	92300779	92300779	+	Missense_Mutation	SNP	C	C	G			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr7:92300779C>G	ENST00000265734.4	-	5	1019	c.608G>C	c.(607-609)tGg>tCg	p.W203S	CDK6_ENST00000424848.2_Missense_Mutation_p.W203S	NM_001259.6	NP_001250.1	Q00534	CDK6_HUMAN	cyclin-dependent kinase 6	203	Protein kinase.				cell dedifferentiation|cell division|G1 phase of mitotic cell cycle|gliogenesis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|negative regulation of osteoblast differentiation|positive regulation of cell-matrix adhesion|positive regulation of fibroblast proliferation|regulation of erythrocyte differentiation|regulation of gene expression|response to virus	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleus|ruffle	ATP binding|cyclin binding|cyclin-dependent protein kinase activity	p.W203S(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	11	all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237)		STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			GCCAACACTCCAGAGATCCAC	0.473000			T	MLLT10	ALL								15	46					0	0	0.146539	0	0
DDR2	4921	broad.mit.edu	37	1	162729653	162729653	+	Nonsense_Mutation	SNP	G	G	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr1:162729653G>T	ENST00000367922.2	+	9	1177	c.739G>T	c.(739-741)Gaa>Taa	p.E247*	DDR2_ENST00000367921.3_Nonsense_Mutation_p.E247*	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	247					cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.E247K(1)|p.E247*(1)		central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			CCAGACCCATGAATACCACGT	0.537000													27	27					1.7881e-09	2.19199e-09	0.134883	1	0
UBE3C	9690	broad.mit.edu	37	7	157023909	157023909	+	Missense_Mutation	SNP	G	G	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr7:157023909G>A	ENST00000348165.5	+	18	2729	c.2369G>A	c.(2368-2370)gGg>gAg	p.G790E		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	790	HECT.				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	p.G790E(1)		central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		CCCAACCAGGGGTTCTTTAAG	0.463000													32	37					0	0	0.153744	0	0
DOCK10	55619	broad.mit.edu	37	2	225635348	225635348	+	Silent	SNP	T	T	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr2:225635348T>A	ENST00000409592.3	-	54	6314	c.6201A>T	c.(6199-6201)ccA>ccT	p.P2067P	DOCK10_ENST00000258390.7_Silent_p.P2073P			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	2073	DHR-2.						GTP binding	p.P2071P(1)|p.P580P(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CATAGGCCATTGGCCCAGCAT	0.453000													21	36					0	0	0.062417	0	0
FCRL3	115352	broad.mit.edu	37	1	157660129	157660129	+	Missense_Mutation	SNP	T	T	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr1:157660129T>A	ENST00000368184.3	-	9	1897	c.1606A>T	c.(1606-1608)Aca>Tca	p.T536S	FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Missense_Mutation_p.T536S	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	536	Ig-like C2-type 6.					integral to membrane|plasma membrane	receptor activity	p.T536S(1)		autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					GAATGTTCTGTAGTCAGAGAG	0.512000													40	45					0	0	0.104719	0	0
GABRA6	2559	broad.mit.edu	37	5	161116290	161116290	+	Silent	SNP	G	G	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr5:161116290G>A	ENST00000523217.1	+	5	689	c.447G>A	c.(445-447)agG>agA	p.R149R	GABRA6_ENST00000274545.5_Silent_p.R159R|RP11-348M17.2_ENST00000521984.1_RNA	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	159					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	p.R159R(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GTCCCATGAGGCTGGTTAACT	0.398000										TCGA Ovarian(5;0.080)			49	21					0	0	0.139131	0	0
JMJD1C	221037	broad.mit.edu	37	10	64974642	64974642	+	Missense_Mutation	SNP	T	T	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr10:64974642T>A	ENST00000399262.2	-	8	1503	c.1285A>T	c.(1285-1287)Aat>Tat	p.N429Y	JMJD1C_ENST00000402544.1_Missense_Mutation_p.N210Y|JMJD1C_ENST00000399251.1_Missense_Mutation_p.N210Y|JMJD1C_ENST00000542921.1_Missense_Mutation_p.N247Y	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	429					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	p.N429Y(1)|p.N210Y(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					GGCTGGCTATTTTTTAGGGTC	0.368000													28	38					0	0	0.125774	0	0
KDM6B	23135	broad.mit.edu	37	17	7752915	7752915	+	Silent	SNP	G	G	C			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr17:7752915G>C	ENST00000254846.5	+	11	3698	c.3309G>C	c.(3307-3309)ctG>ctC	p.L1103L	KDM6B_ENST00000448097.2_Silent_p.L1103L	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1103					inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.L1103L(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CCAAGGAGCTGAAGATCCGGC	0.627000													20	23					0	0	0.083992	0	0
OR1J2	26740	broad.mit.edu	37	9	125273352	125273352	+	Missense_Mutation	SNP	C	C	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr9:125273352C>T	ENST00000335302.5	+	1	272	c.272C>T	c.(271-273)tCg>tTg	p.S91L		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S91L(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						AAGTACAAATCGATCCTCTAT	0.408000													49	27					0	0	0.139131	0	0
SLC9C1	285335	broad.mit.edu	37	3	111927123	111927123	+	Missense_Mutation	SNP	T	T	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr3:111927123T>A	ENST00000305815.5	-	16	2140	c.1888A>T	c.(1888-1890)Atc>Ttc	p.I630F	SLC9C1_ENST00000487372.1_Missense_Mutation_p.I582F	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	630	Ion transport-like.				cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity	p.I630F(1)									ATCCAAGAGATTATAAAGGGA	0.308000													79	104					0	0	0.139131	0	0
DZIP3	9666	broad.mit.edu	37	3	108355508	108355508	+	Missense_Mutation	SNP	A	A	C			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr3:108355508A>C	ENST00000361582.3	+	11	1194	c.964A>C	c.(964-966)Atg>Ctg	p.M322L	DZIP3_ENST00000463306.1_Missense_Mutation_p.M322L	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	322					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	p.M322L(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						TACAGGTGACATGGTAAGGAT	0.299000													8	114					0	0	0.069234	0	0
CLEC4F	165530	broad.mit.edu	37	2	71043795	71043795	+	Missense_Mutation	SNP	C	C	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr2:71043795C>A	ENST00000272367.2	-	4	794	c.718G>T	c.(718-720)Gct>Tct	p.A240S	CLEC4F_ENST00000426626.1_Missense_Mutation_p.A240S	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	240					endocytosis	integral to membrane	receptor activity|sugar binding	p.Q239_A240>HS(1)		endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						GCTAACTGAGCCTGGGTATTT	0.438000													38	23					1.42033e-22	2.06762e-22	0.203993	1	0
RSC1A1	6248	broad.mit.edu	37	1	15986853	15986853	+	Missense_Mutation	SNP	G	G	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr1:15986853G>A	ENST00000345034.1	+	1	490	c.490G>A	c.(490-492)Gac>Aac	p.D164N	DDI2_ENST00000480945.1_3'UTR	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1, member 1	164					negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	cell junction|Golgi apparatus|nucleus	ion channel inhibitor activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCAAGTGAGTGACCCTCAGCA	0.428000													10	45					0	0	0.069234	0	0
MUC21	394263	broad.mit.edu	37	6	30955259	30955259	+	Missense_Mutation	SNP	C	C	G			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr6:30955259C>G	ENST00000376296.3	+	2	1548	c.1307C>G	c.(1306-1308)aCc>aGc	p.T436S	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	436	Ser-rich.					integral to membrane|plasma membrane		p.T436S(1)		NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						AACACAGCCACCAACTCTGGG	0.577000													9	111					0	0	0.058154	0	0
CLSTN2	64084	broad.mit.edu	37	3	140282871	140282871	+	Missense_Mutation	SNP	G	G	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr3:140282871G>T	ENST00000458420.3	+	16	2741	c.2551G>T	c.(2551-2553)Ggt>Tgt	p.G851C		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	851					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	p.G851C(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CGTGGCCATGGGTGTGTACCG	0.542000										HNSCC(16;0.037)			30	132					5.45727e-16	7.55102e-16	0.134883	1	0
USP54	159195	broad.mit.edu	37	10	75276381	75276381	+	Missense_Mutation	SNP	C	C	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr10:75276381C>A	ENST00000339859.4	-	19	3903	c.3803G>T	c.(3802-3804)aGg>aTg	p.R1268M	USP54_ENST00000428547.1_Missense_Mutation_p.R1118M|RP11-137L10.6_ENST00000597958.1_RNA|USP54_ENST00000408019.1_Missense_Mutation_p.R1268M|USP54_ENST00000394811.2_Missense_Mutation_p.R356M|RP11-137L10.6_ENST00000595069.1_RNA|RP11-137L10.6_ENST00000593790.1_RNA|USP54_ENST00000497106.1_5'UTR|RP11-137L10.6_ENST00000600206.1_RNA|USP54_ENST00000422491.2_Missense_Mutation_p.R450M			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	1268					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity	p.R1268M(1)|p.R356M(1)		breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					ATCACAGAACCTTGTGATATT	0.493000													25	16					3.28513e-13	4.37235e-13	0.091800	1	0
CXCR2P1	3580	broad.mit.edu	37	2	218924975	218924975	+	RNA	SNP	C	C	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr2:218924975C>A	ENST00000439871.1	-	0	1405					NR_002712.1																						GACACTGAGACCAAGAAGAGC	0.537000													17	24					7.05477e-17	9.83445e-17	0.160694	1	0
OR1S2	219958	broad.mit.edu	37	11	57970940	57970940	+	Silent	SNP	G	G	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr11:57970940G>A	ENST00000302592.6	-	1	713	c.714C>T	c.(712-714)gtC>gtT	p.V238V		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	238					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V238V(1)		endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				ATACTCCCAGGACAGCTCTGA	0.448000													17	40					0	0	0.175082	0	0
NXF2	56001	broad.mit.edu	37	X	101581408	101581408	+	Missense_Mutation	SNP	G	G	C			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chrX:101581408G>C	ENST00000395088.2	+	34	3733	c.1861G>C	c.(1861-1863)Gcc>Ccc	p.A621P	NXF2_ENST00000372757.1_Missense_Mutation_p.A621P|NXF2_ENST00000372758.1_Missense_Mutation_p.A621P|NXF2_ENST00000330252.5_Missense_Mutation_p.A621P|NXF2_ENST00000372763.1_3'UTR			Q9GZY0	NXF2_HUMAN	nuclear RNA export factor 2	621	TAP-C.				mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|RNA binding	p.A621P(1)		endometrium(2)|lung(2)	4						CCCCGCAGAGGCCTTCAAGCA	0.512000													29	12					0	0	0.163468	0	0
NOTCH1	4851	broad.mit.edu	37	9	139395153	139395153	+	Nonsense_Mutation	SNP	C	C	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr9:139395153C>A	ENST00000277541.6	-	31	5860	c.5785G>T	c.(5785-5787)Gag>Tag	p.E1929*		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1929					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.E1929*(1)|p.E1930*(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		AAGGCGGTCTCGCCCGTGCGG	0.672000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			38	37					6.2361e-21	8.96139e-21	0.098360	1	0
DTNA	1837	broad.mit.edu	37	18	32391994	32391994	+	Missense_Mutation	SNP	G	G	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr18:32391994G>T	ENST00000283365.9	+	7	871	c.520G>T	c.(520-522)Gtt>Ttt	p.V174F	DTNA_ENST00000399113.3_Missense_Mutation_p.V174F|DTNA_ENST00000269190.7_Missense_Mutation_p.V174F|DTNA_ENST00000598334.1_Missense_Mutation_p.V174F|DTNA_ENST00000598774.1_Missense_Mutation_p.V174F|DTNA_ENST00000554864.3_Missense_Mutation_p.V174F|DTNA_ENST00000315456.6_Missense_Mutation_p.V174F|DTNA_ENST00000595022.1_Missense_Mutation_p.V174F|DTNA_ENST00000348997.5_Missense_Mutation_p.V174F|DTNA_ENST00000399121.5_Missense_Mutation_p.V174F|DTNA_ENST00000444659.1_Missense_Mutation_p.V174F|DTNA_ENST00000269191.6_Missense_Mutation_p.V174F|DTNA_ENST00000399097.3_5'UTR|DTNA_ENST00000596745.1_Missense_Mutation_p.V174F|DTNA_ENST00000597599.1_Missense_Mutation_p.V174F|DTNA_ENST00000598142.1_Missense_Mutation_p.V174F	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	174	Interaction with MAGEE1 (By similarity).				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding	p.V174F(5)		endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						CCTTCGGGAAGTTCTCAAACT	0.403000													15	18					6.72482e-11	8.64178e-11	0.132662	1	0
KDM6B	23135	broad.mit.edu	37	17	7753218	7753218	+	Missense_Mutation	SNP	G	G	C			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr17:7753218G>C	ENST00000254846.5	+	12	3909	c.3520G>C	c.(3520-3522)Gag>Cag	p.E1174Q	KDM6B_ENST00000448097.2_Missense_Mutation_p.E1174Q	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1174					inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.E1174Q(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CAACACTGAGGAGAAGCTGCC	0.547000													89	140					0	0	0.139131	0	0
PIF1	80119	broad.mit.edu	37	15	65108869	65108869	+	Silent	SNP	G	G	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr15:65108869G>A	ENST00000268043.4	-	12	1864	c.1770C>T	c.(1768-1770)ggC>ggT	p.G590G	PIF1_ENST00000559239.1_Silent_p.G590G|PIF1_ENST00000333425.6_Silent_p.G590G			Q9H611	PIF1_HUMAN	PIF1 5'-to-3' DNA helicase	590	Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity.				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding	p.G590G(1)		kidney(1)|lung(1)	2						GCACACGTAGGCCCTGCAGGC	0.637000													19	22					0	0	0.189662	0	0
GRIN3A	116443	broad.mit.edu	37	9	104449372	104449372	+	Missense_Mutation	SNP	G	G	C			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr9:104449372G>C	ENST00000361820.3	-	2	1410	c.810C>G	c.(808-810)tgC>tgG	p.C270W		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	270					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	p.C270W(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	AGTCTTCCTGGCACAGCAACA	0.438000													24	25					0	0	0.116897	0	0
LRP1B	53353	broad.mit.edu	37	2	141707803	141707803	+	Splice_Site	SNP	C	C	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr2:141707803C>T	ENST00000389484.3	-	20	4108		c.e20+1			NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B						protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.?(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AAATTACTAACCTTCTTTAGT	0.358000										TSP Lung(27;0.18)			6	14					0	0	0.021553	0	0
LRRC7	57554	broad.mit.edu	37	1	70478698	70478698	+	Silent	SNP	C	C	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr1:70478698C>A	ENST00000310961.5	+	14	1495	c.1077C>A	c.(1075-1077)tcC>tcA	p.S359S	LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000035383.5_Silent_p.S354S			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	354						centrosome|focal adhesion|nucleolus	protein binding	p.S354S(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CTCTACGCTCCAACAAATTAG	0.323000													8	73					5.4927e-09	6.57478e-09	0.047766	1	0
WWC2	80014	broad.mit.edu	37	4	184233492	184233492	+	Splice_Site	SNP	A	A	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr4:184233492A>T	ENST00000403733.3	+	22	3583		c.e22-1		WWC2_ENST00000508747.1_Splice_Site|WWC2_ENST00000504005.1_Splice_Site|WWC2_ENST00000448232.2_Splice_Site|WWC2_ENST00000513834.1_Splice_Site	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2									p.?(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		TCCCTTTTCCAGGCTGAACAG	0.463000													28	20					0	0	0.125774	0	0
FAM135B	51059	broad.mit.edu	37	8	139153548	139153548	+	Missense_Mutation	SNP	A	A	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr8:139153548A>T	ENST00000395297.1	-	17	3853	c.3683T>A	c.(3682-3684)cTc>cAc	p.L1228H		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1228								p.L1228H(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GGGCCGTGTGAGGACCGATCG	0.547000										HNSCC(54;0.14)			9	46					0	0	0.105934	0	0
TEX35	84066	broad.mit.edu	37	1	178489836	178489836	+	Missense_Mutation	SNP	C	C	G			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr1:178489836C>G	ENST00000367641.3	+	7	429	c.370C>G	c.(370-372)Cag>Gag	p.Q124E	TEX35_ENST00000367642.3_3'UTR|TEX35_ENST00000319416.2_Missense_Mutation_p.Q124E|TEX35_ENST00000367639.1_Missense_Mutation_p.Q132E|TEX35_ENST00000367643.3_Missense_Mutation_p.Q124E|TEX35_ENST00000258298.2_Missense_Mutation_p.Q48E					testis expressed 35									p.Q124E(2)									AAAGGAGCAGCAGGAACTCAG	0.552000													6	7					0	0	0.021553	0	0
TAS2R14	50840	broad.mit.edu	37	12	11091748	11091748	+	Missense_Mutation	SNP	C	C	G			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr12:11091748C>G	ENST00000537503.1	-	1	114	c.59G>C	c.(58-60)gGa>gCa	p.G20A	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_023922.1	NP_076411.1	Q9NYV8	T2R14_HUMAN	taste receptor, type 2, member 14	20					detection of chemical stimulus involved in sensory perception of bitter taste		bitter taste receptor activity	p.G20A(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	8						TCCTAAATTTCCAATTATAAA	0.393000													27	18					0	0	0.163468	0	0
SKAP1	8631	broad.mit.edu	37	17	46239860	46239860	+	Silent	SNP	G	G	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr17:46239860G>T	ENST00000336915.6	-	11	1018	c.949C>A	c.(949-951)Cgg>Agg	p.R317R	SKAP1_ENST00000584924.1_Silent_p.R317R	NM_001075099.1|NM_003726.3	NP_001068567.1|NP_003717.3	Q86WV1	SKAP1_HUMAN	src kinase associated phosphoprotein 1	317	SH3.				positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway	cytoplasm|nucleus|plasma membrane	antigen binding|protein kinase binding|SH2 domain binding	p.R317R(1)		large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						AGGTCACCCCGTTGGAAGGAC	0.433000													9	15					2.17888e-05	2.39291e-05	0.058154	1	0
DSG4	147409	broad.mit.edu	37	18	28993162	28993162	+	Missense_Mutation	SNP	G	G	C			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr18:28993162G>C	ENST00000359747.4	+	15	2813	c.2784G>C	c.(2782-2784)gaG>gaC	p.E928D	RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.E909D|RP11-534N16.1_ENST00000581856.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	909					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	p.E909D(1)|p.E928D(1)		NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TTGTGACTGAGACTTACGGTA	0.433000													17	76					0	0	0.146539	0	0
KLRC1	3821	broad.mit.edu	37	12	10600141	10600141	+	Missense_Mutation	SNP	A	A	C			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr12:10600141A>C	ENST00000544822.1	-	7	967	c.580T>G	c.(580-582)Ttc>Gtc	p.F194V	KLRC1_ENST00000536188.1_Missense_Mutation_p.F194V|KLRC1_ENST00000408006.3_Missense_Mutation_p.F176V|KLRC1_ENST00000359151.3_Missense_Mutation_p.F194V|KLRC1_ENST00000347831.5_Missense_Mutation_p.F176V	NM_213658.2	NP_998823.1	P26715	NKG2A_HUMAN	killer cell lectin-like receptor subfamily C, member 1	194	C-type lectin.				cell surface receptor linked signaling pathway|regulation of immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity	p.F194V(1)		NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16						TCATGTTTGAAAGCCAAACCA	0.323000													11	35					0	0	0.069234	0	0
DNAJC13	23317	broad.mit.edu	37	3	132169588	132169588	+	Missense_Mutation	SNP	A	A	C			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr3:132169588A>C	ENST00000260818.6	+	6	682	c.434A>C	c.(433-435)aAc>aCc	p.N145T	DNAJC13_ENST00000486798.1_3'UTR	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	145							heat shock protein binding	p.N145T(1)		breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						CCTGCAACCAACAGAGTACTC	0.363000													44	33					0	0	0.117977	0	0
OR2J2	26707	broad.mit.edu	37	6	29141566	29141566	+	Missense_Mutation	SNP	G	G	T	rs141015719	by1000genomes	TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr6:29141566G>T	ENST00000377167.2	+	1	256	c.154G>T	c.(154-156)Gtg>Ttg	p.V52L		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V52L(1)		endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						CCTGTCATACGTGGACTCCCA	0.453000													35	166					9.65963e-10	1.19199e-09	0.183431	1	0
GPR112	139378	broad.mit.edu	37	X	135487998	135487998	+	Missense_Mutation	SNP	G	G	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chrX:135487998G>T	ENST00000394143.1	+	23	9093	c.8802G>T	c.(8800-8802)atG>atT	p.M2934I	GPR112_ENST00000394141.1_Missense_Mutation_p.M2729I|GPR112_ENST00000287534.4_Missense_Mutation_p.M2687I|GPR112_ENST00000412101.1_Missense_Mutation_p.M2729I|GPR112_ENST00000370652.1_Missense_Mutation_p.M2934I	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2934					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.M2934I(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GGCGGAAGATGATCCTGCATG	0.443000													71	26					1.43987e-31	2.1695e-31	0.139131	1	0
OR6C6	283365	broad.mit.edu	37	12	55688394	55688394	+	Missense_Mutation	SNP	G	G	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr12:55688394G>T	ENST00000358433.2	-	1	622	c.623C>A	c.(622-624)aCa>aAa	p.T208K		NM_001005493.1	NP_001005493.1	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C, member 6	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T208K(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TAATACCAGTGTGACCACAAG	0.403000													36	18					2.09667e-21	3.04425e-21	0.193644	1	0
RYR2	6262	broad.mit.edu	37	1	237551449	237551449	+	Missense_Mutation	SNP	G	G	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr1:237551449G>T	ENST00000366574.2	+	10	1056	c.739G>T	c.(739-741)Gtc>Ttc	p.V247F	RYR2_ENST00000542537.1_Missense_Mutation_p.V231F|RYR2_ENST00000360064.6_Missense_Mutation_p.V245F	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	247	MIR 3.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.V245F(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GTGTCTCACTGTCCCTTCAGG	0.453000													7	18					2.0095e-06	2.25564e-06	0.029380	1	0
C2orf44	80304	broad.mit.edu	37	2	24261821	24261821	+	Missense_Mutation	SNP	A	A	C			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr2:24261821A>C	ENST00000295148.4	-	2	601	c.544T>G	c.(544-546)Tat>Gat	p.Y182D	C2orf44_ENST00000406895.3_Missense_Mutation_p.Y182D	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN	chromosome 2 open reading frame 44	182							protein binding	p.Y182D(1)	C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCCAAATATAAGAATGCAGG	0.562000			T	ALK	NSCLC								11	32					0	0	0.080935	0	0
SLC9C2	284525	broad.mit.edu	37	1	173486708	173486708	+	Nonsense_Mutation	SNP	C	C	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr1:173486708C>A	ENST00000367714.3	-	23	3297	c.2875G>T	c.(2875-2877)Gaa>Taa	p.E959*	SLC9C2_ENST00000466087.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	959					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity	p.E959*(1)									ACGGTATATTCAATTTCACGC	0.358000													24	71					1.66031e-10	2.09506e-10	0.091800	1	0
PCDH15	65217	broad.mit.edu	37	10	56287633	56287633	+	Silent	SNP	G	G	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr10:56287633G>A	ENST00000373965.2	-	3	490	c.96C>T	c.(94-96)tgC>tgT	p.C32C	PCDH15_ENST00000395433.1_Intron|RP11-257I14.1_ENST00000422842.1_RNA|PCDH15_ENST00000320301.6_Silent_p.C32C|PCDH15_ENST00000395432.2_Silent_p.C32C|PCDH15_ENST00000414778.1_Silent_p.C37C|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395430.1_Silent_p.C32C|PCDH15_ENST00000395445.1_Silent_p.C32C|PCDH15_ENST00000395442.1_Silent_p.C32C|PCDH15_ENST00000395440.1_Silent_p.C32C|PCDH15_ENST00000361849.3_Silent_p.C32C|PCDH15_ENST00000395438.1_Silent_p.C32C|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000437009.1_Silent_p.C32C|PCDH15_ENST00000395446.1_Silent_p.C32C|PCDH15_ENST00000373955.1_Silent_p.C32C	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	32					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.C32C(3)|p.C37C(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TAGCTAGTTTGCAATCTAAAG	0.328000										HNSCC(58;0.16)			21	16					0	0	0.083992	0	0
LAD1	3898	broad.mit.edu	37	1	201358337	201358337	+	Missense_Mutation	SNP	C	C	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr1:201358337C>A	ENST00000391967.2	-	2	434	c.133G>T	c.(133-135)Gct>Tct	p.A45S	LAD1_ENST00000367313.3_Missense_Mutation_p.A59S	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	45						basement membrane	structural molecule activity	p.A45S(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						AGCCTGGGAGCCTCATCGTCC	0.637000													33	32					3.93418e-24	5.75709e-24	0.203993	1	0
POLI	11201	broad.mit.edu	37	18	51820115	51820115	+	Nonsense_Mutation	SNP	G	G	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr18:51820115G>T	ENST00000579534.1	+	10	1644	c.1501G>T	c.(1501-1503)Gag>Tag	p.E501*	POLI_ENST00000582366.1_3'UTR|POLI_ENST00000217800.5_Nonsense_Mutation_p.E375*|POLI_ENST00000406285.3_Nonsense_Mutation_p.E422*|POLI_ENST00000579434.1_Nonsense_Mutation_p.E398*	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	501					DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding	p.E476*(1)|p.E501*(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		AAGAACTAGGGAGTCTCCACT	0.373000								DNA polymerases (catalytic subunits)					5	5					0.014758	0.0152209	0.184627	1	0
PDZD7	79955	broad.mit.edu	37	10	102781973	102781973	+	Missense_Mutation	SNP	C	C	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr10:102781973C>A	ENST00000370215.3	-	5	937	c.712G>T	c.(712-714)Gtg>Ttg	p.V238L		NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	238	PDZ 2.					cilium|nucleus	protein binding	p.V238L(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		CACTTGGACACATAGATGCCC	0.582000													16	17					9.16793e-09	1.08808e-08	0.160694	1	0
TTBK1	84630	broad.mit.edu	37	6	43226967	43226967	+	Missense_Mutation	SNP	C	C	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr6:43226967C>T	ENST00000259750.4	+	11	1291	c.1208C>T	c.(1207-1209)aCa>aTa	p.T403I	TTBK1_ENST00000304139.5_Missense_Mutation_p.T352I	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	403						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.T403I(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			TGGGAGGAGACAGATGTCAAC	0.652000													6	67					0	0	0.038147	0	0
SELO	83642	broad.mit.edu	37	22	50646965	50646965	+	Splice_Site	SNP	G	G	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr22:50646965G>T	ENST00000380903.2	+	3	817	c.758_splice	c.e3-1	p.R253_splice	RP3-402G11.5_ENST00000492092.1_3'UTR	NM_031454.1	NP_113642.1												p.R253S(1)									TTCCCTCCAGGTTTGGATCCT	0.502000													10	18					0.000673444	0.000711636	0.069234	1	0
COL11A2	1302	broad.mit.edu	37	6	33156809	33156809	+	Missense_Mutation	SNP	C	C	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr6:33156809C>A	ENST00000341947.2	-	3	616	c.389G>T	c.(388-390)cGg>cTg	p.R130L	COL11A2_ENST00000395194.1_Missense_Mutation_p.R130L|COL11A2_ENST00000357486.1_Missense_Mutation_p.R130L|COL11A2_ENST00000374714.1_Missense_Mutation_p.R130L|COL11A2_ENST00000361917.1_Missense_Mutation_p.R130L|COL11A2_ENST00000395197.1_Missense_Mutation_p.R130L|COL11A2_ENST00000374708.4_Missense_Mutation_p.R130L|COL11A2_ENST00000374713.1_Missense_Mutation_p.R130L|COL11A2_ENST00000374712.1_Missense_Mutation_p.R130L	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	130	TSP N-terminal.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	p.R130L(1)		biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						AGGTTGAGGCCGCCCAGTCTG	0.607000													26	112					1.42536e-11	1.86598e-11	0.099896	1	0
RAG1	5896	broad.mit.edu	37	11	36596365	36596365	+	Missense_Mutation	SNP	A	A	C			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr11:36596365A>C	ENST00000299440.5	+	2	1623	c.1511A>C	c.(1510-1512)cAt>cCt	p.H504P		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	504					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	p.H504P(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				CAGCCTTTGCATGCCCTTCGG	0.507000									Familial Hemophagocytic Lymphohistiocytosis				46	64					0	0	0.124865	0	0
POLR2E	5434	broad.mit.edu	37	19	1095300	1095300	+	Silent	SNP	C	C	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr19:1095300C>T	ENST00000215587.7	-	1	298	c.15G>A	c.(13-15)gaG>gaA	p.E5E	POLR2E_ENST00000586746.1_Silent_p.E5E			P19388	RPAB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide E, 25kDa	5					interspecies interaction between organisms|mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity	p.E5E(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|skin(2)	11		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTACGTCTCCTCCTCGTCGT	0.726000													18	34					0	0	0.189662	0	0
SPTA1	6708	broad.mit.edu	37	1	158612648	158612648	+	Missense_Mutation	SNP	G	G	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr1:158612648G>A	ENST00000368148.3	-	32	4741	c.4561C>T	c.(4561-4563)Ccc>Tcc	p.P1521S	SPTA1_ENST00000368147.3_Missense_Mutation_p.P1521S	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1521					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.P1521S(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CAGGCTGTGGGCAGCATCTCA	0.448000													12	91					0	0	0.105934	0	0
DAPK1	1612	broad.mit.edu	37	9	90321569	90321569	+	Missense_Mutation	SNP	G	G	C			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr9:90321569G>C	ENST00000469640.2	+	27	4033	c.3658G>C	c.(3658-3660)Gag>Cag	p.E1220Q	DAPK1_ENST00000491893.1_Missense_Mutation_p.E1129Q|DAPK1_ENST00000408954.3_Missense_Mutation_p.E1195Q|DAPK1_ENST00000358077.5_Missense_Mutation_p.E1195Q|DAPK1_ENST00000472284.1_Missense_Mutation_p.E1195Q			P53355	DAPK1_HUMAN	death-associated protein kinase 1	1195					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity	p.E1195Q(1)|p.E1196Q(1)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						CCAGGGCATTGAGGTCCAGGT	0.652000									Chronic Lymphocytic Leukemia, Familial Clustering of				3	21					0	0	0.115264	0	0
CDC5L	988	broad.mit.edu	37	6	44371573	44371573	+	Silent	SNP	A	A	G			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr6:44371573A>G	ENST00000371477.3	+	6	866	c.567A>G	c.(565-567)agA>agG	p.R189R		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	189					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding	p.R189R(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AAAAAAGAAGAGAACTTCGAG	0.378000													12	37					0	0	0.105934	0	0
CROCCP2	84809	broad.mit.edu	37	1	16959645	16959645	+	RNA	SNP	A	A	C			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr1:16959645A>C	ENST00000412962.1	-	0	74																											CCTGGCACTGAGGTCAGCCTT	0.602000													4	34					0	0	0.150653	0	0
OR4C15	81309	broad.mit.edu	37	11	55322792	55322792	+	Missense_Mutation	SNP	C	C	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr11:55322792C>A	ENST00000314644.2	+	1	1010	c.1010C>A	c.(1009-1011)cCt>cAt	p.P337H		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	283					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P337H(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TTGCTCAATCCTTTGATTTAC	0.358000										HNSCC(20;0.049)			40	109					5.71845e-15	7.85409e-15	0.080422	1	0
CDH11	1009	broad.mit.edu	37	16	64981542	64981542	+	Missense_Mutation	SNP	C	C	G			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr16:64981542C>G	ENST00000268603.4	-	13	2970	c.2355G>C	c.(2353-2355)ttG>ttC	p.L785F	CDH11_ENST00000394156.3_3'UTR|CDH11_ENST00000566827.1_Missense_Mutation_p.L659F	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	785					adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.L785F(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TGGAACCATACAAATCTGCTA	0.433000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			28	26					0	0	0.108266	0	0
CHRNA1	1134	broad.mit.edu	37	2	175622695	175622695	+	Silent	SNP	C	C	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr2:175622695C>T	ENST00000261007.5	-	4	354	c.288G>A	c.(286-288)ttG>ttA	p.L96L	CHRNA1_ENST00000409542.1_Intron|CHRNA1_ENST00000409219.1_Intron|CHRNA1_ENST00000409323.1_Intron|AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000348749.5_Intron	NM_001039523.2	NP_001034612.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	96					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	p.L96L(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						gatgagaaaacaaaggaactc	0.463000													12	15					0	0	0.080935	0	0
C21orf33	8209	broad.mit.edu	37	21	45563153	45563153	+	Missense_Mutation	SNP	C	C	G			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr21:45563153C>G	ENST00000291577.6	+	6	681	c.588C>G	c.(586-588)caC>caG	p.H196Q	C21orf33_ENST00000348499.5_Missense_Mutation_p.H165Q	NM_004649.6	NP_004640.3	P30042	ES1_HUMAN	chromosome 21 open reading frame 33	196						mitochondrion		p.H196Q(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8				STAD - Stomach adenocarcinoma(101;0.168)|Colorectal(79;0.191)		CTGTGGGCCACGAGCAGGAGG	0.612000													6	27					0	0	0.021553	0	0
PLCG2	5336	broad.mit.edu	37	16	81953109	81953109	+	Missense_Mutation	SNP	A	A	G			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr16:81953109A>G	ENST00000359376.3	+	20	2289	c.2075A>G	c.(2074-2076)cAt>cGt	p.H692R		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	692	SH2 2.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	p.H692R(2)		NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						AAGGTAAAGCATTGTCGCATC	0.517000													8	43					0	0	0.058154	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125281892	125281892	+	Missense_Mutation	SNP	A	A	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr2:125281892A>T	ENST00000431078.1	+	9	1701	c.1337A>T	c.(1336-1338)aAt>aTt	p.N446I		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	446	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.N446I(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		AGCAACTTGAATGATGGCCTG	0.557000													24	19					0	0	0.125774	0	0
SNTG2	54221	broad.mit.edu	37	2	1251177	1251177	+	Missense_Mutation	SNP	C	C	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr2:1251177C>A	ENST00000308624.5	+	12	1096	c.967C>A	c.(967-969)Ctg>Atg	p.L323M	SNTG2_ENST00000407292.1_Missense_Mutation_p.L196M	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	323	PH.				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding	p.L323M(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		GTTCCTAGCACTGAAGGGCCC	0.532000													3	22					0.00024832	0.000265921	0.150653	1	0
PPM1B	5495	broad.mit.edu	37	2	44428593	44428593	+	Silent	SNP	T	T	C			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr2:44428593T>C	ENST00000378551.2	+	2	667	c.255T>C	c.(253-255)ttT>ttC	p.F85F	PPM1B_ENST00000409432.3_Silent_p.F85F|PPM1B_ENST00000378540.4_3'UTR|PPM1B_ENST00000345249.4_Intron|PPM1B_ENST00000282412.4_Silent_p.F85F|PPM1B_ENST00000409895.4_Silent_p.F85F	NM_177968.2	NP_808907.1	O75688	PPM1B_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1B	85					protein dephosphorylation	protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity	p.F85F(3)		kidney(4)|large_intestine(3)|lung(7)|skin(2)	16		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				ACGAAGACTTTAGGGCAGCTG	0.383000													4	83					0	0	0.150653	0	0
PREX1	57580	broad.mit.edu	37	20	47273727	47273727	+	Splice_Site	SNP	C	C	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr20:47273727C>T	ENST00000396220.1	-	18	1997		c.e18-1		PREX1_ENST00000371941.3_Splice_Site			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1						actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.?(2)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GGCCAGCCACCTGGGTAGGGA	0.577000											OREG0026010	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	28					0	0	0.105934	0	0
C5orf42	65250	broad.mit.edu	37	5	37183179	37183179	+	Missense_Mutation	SNP	A	A	C			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr5:37183179A>C	ENST00000274258.7	-	26	5334	c.1747T>G	c.(1747-1749)Tca>Gca	p.S583A	C5orf42_ENST00000508244.1_Missense_Mutation_p.S1702A|C5orf42_ENST00000425232.2_Missense_Mutation_p.S1702A			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	1702								p.S1702A(1)|p.S583A(1)		breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			ATGTGGTTTGATGATCTCTGG	0.323000													8	71					0	0	0.038147	0	0
CSTF3	1479	broad.mit.edu	37	11	33112133	33112133	+	Missense_Mutation	SNP	T	T	C			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr11:33112133T>C	ENST00000323959.4	-	17	1725	c.1586A>G	c.(1585-1587)aAg>aGg	p.K529R	TCP11L1_ENST00000324357.9_Intron	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa	529					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding	p.K529R(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						ATCCATGAACTTGTATCTATC	0.378000													11	45					0	0	0.069234	0	0
USH1C	10083	broad.mit.edu	37	11	17522677	17522677	+	Silent	SNP	G	G	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr11:17522677G>T	ENST00000005226.7	-	23	2300	c.2301C>A	c.(2299-2301)gcC>gcA	p.A767A	USH1C_ENST00000527020.1_Silent_p.A448A|USH1C_ENST00000318024.4_Silent_p.A467A|USH1C_ENST00000529563.1_5'UTR|USH1C_ENST00000527720.1_Silent_p.A436A	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	467					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding	p.A767A(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						CGCCTTCCAGGGCCAGGTCTA	0.592000													7	7					0.0381472	0.038913	0.038147	1	0
STXBP5	134957	broad.mit.edu	37	6	147588262	147588262	+	Missense_Mutation	SNP	C	C	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr6:147588262C>A	ENST00000367481.3	+	7	781	c.673C>A	c.(673-675)Ctc>Atc	p.L225I	STXBP5_ENST00000367480.3_Missense_Mutation_p.L225I|STXBP5_ENST00000546097.1_Missense_Mutation_p.L225I|STXBP5_ENST00000321680.6_Missense_Mutation_p.L225I|STXBP5_ENST00000179882.6_5'UTR	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	225					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding	p.L225I(2)		breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		TTTATGGGACCTCAAATCAAA	0.318000													34	66					2.19489e-29	3.28939e-29	0.086207	1	0
SSH1	54434	broad.mit.edu	37	12	109182837	109182837	+	Missense_Mutation	SNP	G	G	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr12:109182837G>A	ENST00000326495.5	-	15	2170	c.2077C>T	c.(2077-2079)Cac>Tac	p.H693Y	SSH1_ENST00000360239.3_Missense_Mutation_p.H381Y	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	693					actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.H693Y(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTGGCCAAGTGGGCCACAGGG	0.667000													8	33					0	0	0.047766	0	0
DENND4C	55667	broad.mit.edu	37	9	19369895	19369895	+	Missense_Mutation	SNP	A	A	C			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr9:19369895A>C	ENST00000307015.9	+	27	4901	c.3149A>C	c.(3148-3150)gAa>gCa	p.E1050A	DENND4C_ENST00000540671.1_Missense_Mutation_p.E907A|DENND4C_ENST00000380432.2_Missense_Mutation_p.E1577A|DENND4C_ENST00000602925.1_Missense_Mutation_p.E1813A|DENND4C_ENST00000434457.2_Missense_Mutation_p.E1862A			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	1577						integral to membrane		p.E1577A(1)		breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						ACTTTAGTAGAAACCATCAGG	0.348000													8	18					0	0	0.058154	0	0
LRP1B	53353	broad.mit.edu	37	2	141294231	141294231	+	Missense_Mutation	SNP	C	C	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr2:141294231C>A	ENST00000389484.3	-	46	8532	c.7561G>T	c.(7561-7563)Ggt>Tgt	p.G2521C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2521	LDL-receptor class A 11.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.G2521C(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATGCACTCACCATTTCCACAT	0.373000										TSP Lung(27;0.18)			17	36					3.32936e-07	3.79819e-07	0.175082	1	0
IDO2	169355	broad.mit.edu	37	8	39840251	39840251	+	Missense_Mutation	SNP	C	C	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr8:39840251C>A	ENST00000502986.2	+	5	677	c.435C>A	c.(433-435)gaC>gaA	p.D145E	IDO2_ENST00000389060.4_Missense_Mutation_p.D132E|IDO2_ENST00000343295.4_3'UTR|RP11-44K6.3_ENST00000517623.1_RNA	NM_194294.2	NP_919270.2	Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2	132					tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity	p.D145E(1)|p.D132E(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						TCCACTCAGACTTGGTGCTGA	0.483000													10	12					1.76689e-08	2.07935e-08	0.058154	1	0
MBTPS2	51360	broad.mit.edu	37	X	21900704	21900704	+	Silent	SNP	C	C	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chrX:21900704C>T	ENST00000379484.5	+	11	1590	c.1491C>T	c.(1489-1491)atC>atT	p.I497I		NM_015884.3	NP_056968.1	O43462	MBTP2_HUMAN	membrane-bound transcription factor peptidase, site 2	497					cholesterol metabolic process|proteolysis	Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity	p.I497I(1)		breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						GGTTTTTCATCTTGCTGGGTG	0.453000													17	65					0	0	0.146539	0	0
KIAA0947	23379	broad.mit.edu	37	5	5473822	5473822	+	Missense_Mutation	SNP	G	G	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr5:5473822G>T	ENST00000296564.7	+	16	6596	c.6374G>T	c.(6373-6375)tGc>tTc	p.C2125F		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	2125								p.C2125F(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						CTGCTCTGCTGCCATCAGAAA	0.328000													23	20					1.64293e-13	2.20769e-13	0.083992	1	0
LAD1	3898	broad.mit.edu	37	1	201355596	201355596	+	Missense_Mutation	SNP	G	G	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr1:201355596G>T	ENST00000391967.2	-	3	1194	c.893C>A	c.(892-894)tCt>tAt	p.S298Y	LAD1_ENST00000367313.3_Missense_Mutation_p.S312Y	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	298						basement membrane	structural molecule activity	p.S298Y(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						GCTTCCCCCAGAGGCTGGCGG	0.652000													13	58					0.0285812	0.0292617	0.146539	1	0
BBX	56987	broad.mit.edu	37	3	107491504	107491504	+	Missense_Mutation	SNP	G	G	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr3:107491504G>T	ENST00000415149.2	+	11	1263	c.936G>T	c.(934-936)atG>atT	p.M312I	BBX_ENST00000416476.2_Intron|BBX_ENST00000406780.1_Missense_Mutation_p.M312I|BBX_ENST00000325805.8_Missense_Mutation_p.M312I|BBX_ENST00000402543.1_Missense_Mutation_p.M312I	NM_001142568.1|NM_020235.5	NP_001136040.1|NP_064620.2	Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	312					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.M312I(1)		breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			GGATGAAAATGGAAGAATCAA	0.333000													25	40					4.47668e-21	6.44965e-21	0.091800	1	0
IPO9	55705	broad.mit.edu	37	1	201844051	201844051	+	Silent	SNP	T	T	G			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr1:201844051T>G	ENST00000361565.4	+	22	2994	c.2925T>G	c.(2923-2925)gcT>gcG	p.A975A		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	975					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity	p.A975A(1)		cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						ACATTCTTGCTACAAGTAAAT	0.458000													6	67					0	0	0.047766	0	0
ALDH8A1	64577	broad.mit.edu	37	6	135239557	135239557	+	Missense_Mutation	SNP	T	T	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr6:135239557T>A	ENST00000265605.2	-	7	1528	c.1460A>T	c.(1459-1461)cAc>cTc	p.H487L	ALDH8A1_ENST00000367845.2_Missense_Mutation_p.H433L|ALDH8A1_ENST00000367847.2_Missense_Mutation_p.H437L	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	487					retinal metabolic process	cytoplasm	retinal dehydrogenase activity	p.H487L(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		CAAAGATCAGTGTTTAACGGT	0.463000													13	19					0	0	0.132662	0	0
STAG3	10734	broad.mit.edu	37	7	99786109	99786109	+	Missense_Mutation	SNP	C	C	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr7:99786109C>T	ENST00000426455.1	+	6	874	c.467C>T	c.(466-468)tCc>tTc	p.S156F	STAG3_ENST00000394018.2_Intron|STAG3_ENST00000317296.5_Missense_Mutation_p.S156F			Q9UJ98	STAG3_HUMAN	stromal antigen 3	156					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding	p.S156F(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AAGAAGATGTCCAACTCAGAG	0.403000													144	145					0	0	0.139131	0	0
CLEC4F	165530	broad.mit.edu	37	2	71043796	71043796	+	Missense_Mutation	SNP	C	C	G			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr2:71043796C>G	ENST00000272367.2	-	4	793	c.717G>C	c.(715-717)caG>caC	p.Q239H	CLEC4F_ENST00000426626.1_Missense_Mutation_p.Q239H	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	239					endocytosis	integral to membrane	receptor activity|sugar binding	p.Q239_A240>HS(1)		endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						CTAACTGAGCCTGGGTATTTG	0.438000													37	23					0	0	0.193644	0	0
TTN	7273	broad.mit.edu	37	2	179579124	179579124	+	Missense_Mutation	SNP	T	T	C			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr2:179579124T>C	ENST00000589042.1	-	91	26601	c.26377A>G	c.(26377-26379)Acc>Gcc	p.T8793A	TTN_ENST00000591111.1_Missense_Mutation_p.T8476A|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.T7549A|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8476							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.T7549A(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACTGTAAGGTTGCAATGTTT	0.428000													13	61					0	0	0.105934	0	0
ADCY10	55811	broad.mit.edu	37	1	167825402	167825402	+	Splice_Site	SNP	C	C	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr1:167825402C>T	ENST00000367848.1	-	17	2393		c.e17+1		ADCY10_ENST00000545172.1_Splice_Site|ADCY10_ENST00000367851.4_Splice_Site			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)						intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	p.?(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AGGTTACTTACGAGTCCAGTT	0.433000													42	57					0	0	0.139131	0	0
ASUN	55726	broad.mit.edu	37	12	27081679	27081679	+	Missense_Mutation	SNP	C	C	G			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr12:27081679C>G	ENST00000261191.7	-	4	996	c.460G>C	c.(460-462)Gtt>Ctt	p.V154L	ASUN_ENST00000539625.1_Missense_Mutation_p.V53L	NM_018164.2	NP_060634.2	Q9NVM9	M89BB_HUMAN	asunder spermatogenesis regulator	154					cell division|mitosis|regulation of mitotic cell cycle		protein binding	p.V154L(1)									CTATTTCCAACACGTTCTGCA	0.393000													15	70					0	0	0.146539	0	0
PRKAA1	5562	broad.mit.edu	37	5	40764924	40764924	+	Missense_Mutation	SNP	C	C	G			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr5:40764924C>G	ENST00000397128.2	-	7	1246	c.1238G>C	c.(1237-1239)aGt>aCt	p.S413T	PRKAA1_ENST00000354209.3_Missense_Mutation_p.S428T	NM_006251.5|NM_206907.3	NP_006242.5|NP_996790.3	Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic subunit	413					activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia	cytosol	ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding	p.S428T(1)		breast(1)	1					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	TCGACTTTGACTTCTAATTCC	0.358000													11	63					0	0	0.069234	0	0
TBC1D3P5	440419	broad.mit.edu	37	17	25758281	25758281	+	RNA	SNP	G	G	C			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr17:25758281G>C	ENST00000586223.1	+	0	2715					NR_033892.1																						CGGGGCCTTGGCTCTGCCACC	0.572000											OREG0024258	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	14					0	0	0.115264	0	0
PLEKHM1	9842	broad.mit.edu	37	17	43552468	43552468	+	Missense_Mutation	SNP	T	T	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr17:43552468T>A	ENST00000430334.3	-	4	1054	c.921A>T	c.(919-921)caA>caT	p.Q307H	PLEKHM1_ENST00000421073.2_Missense_Mutation_p.Q218H	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	307					intracellular signal transduction	cytoplasm	metal ion binding	p.Q307H(1)		breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					GTACTCACTCTTGCAGAGACC	0.532000													10	11					0	0	0.058154	0	0
GGTLC1	92086	broad.mit.edu	37	20	23967133	23967133	+	Missense_Mutation	SNP	T	T	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr20:23967133T>A	ENST00000335694.4	-	2	320	c.116A>T	c.(115-117)cAc>cTc	p.H39L	GGTLC1_ENST00000286890.4_Missense_Mutation_p.H39L|GGTLC1_ENST00000278765.4_Missense_Mutation_p.H39L	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN	gamma-glutamyltransferase light chain 1	39							gamma-glutamyltransferase activity	p.H39L(2)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						CACAGACAGGTGAGCAGTGCC	0.637000													18	20					0	0	0.160694	0	0
SLITRK3	22865	broad.mit.edu	37	3	164906953	164906953	+	Nonsense_Mutation	SNP	G	G	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr3:164906953G>A	ENST00000475390.1	-	2	2109	c.1666C>T	c.(1666-1668)Cag>Tag	p.Q556*	SLITRK3_ENST00000241274.3_Nonsense_Mutation_p.Q556*			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	556						integral to membrane		p.Q556*(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						AGGTCTATCTGGACAATGGCA	0.527000										HNSCC(40;0.11)			33	19					0	0	0.153744	0	0
STAG1	10274	broad.mit.edu	37	3	136240070	136240070	+	Translation_Start_Site	SNP	T	T	C			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr3:136240070T>C	ENST00000434713.2	-	0	1157				STAG1_ENST00000480733.1_Missense_Mutation_p.T221A|STAG1_ENST00000236698.5_Missense_Mutation_p.T221A|STAG1_ENST00000383202.2_Missense_Mutation_p.T221A			Q8WVM7	STAG1_HUMAN	stromal antigen 1						cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding	p.T221A(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						AGGGTACTTGTATGCCTAAAA	0.338000													13	53					0	0	0.105934	0	0
CACNA1E	777	broad.mit.edu	37	1	181549852	181549852	+	Missense_Mutation	SNP	T	T	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr1:181549852T>A	ENST00000526775.1	+	6	1056	c.891T>A	c.(889-891)ttT>ttA	p.F297L	CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000357570.5_Missense_Mutation_p.F248L|CACNA1E_ENST00000367570.1_Missense_Mutation_p.F297L|CACNA1E_ENST00000360108.3_Missense_Mutation_p.F297L|CACNA1E_ENST00000358338.5_Missense_Mutation_p.F248L|CACNA1E_ENST00000367573.2_Missense_Mutation_p.F297L	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	297					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.F297L(2)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ACATCCTTTTTGCTGTGCTGA	0.547000													36	33					0	0	0.193644	0	0
NID1	4811	broad.mit.edu	37	1	236212142	236212142	+	Missense_Mutation	SNP	C	C	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr1:236212142C>A	ENST00000264187.6	-	2	455	c.373G>T	c.(373-375)Gac>Tac	p.D125Y	NID1_ENST00000366595.3_Missense_Mutation_p.D125Y	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	125	NIDO.				cell-matrix adhesion	basement membrane	calcium ion binding	p.D125Y(1)		breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	GGGGATAAGTCTTCTCGATAA	0.577000													6	35					0.0215528	0.0221064	0.021553	1	0
OSTN	344901	broad.mit.edu	37	3	190930341	190930341	+	Missense_Mutation	SNP	C	C	G			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr3:190930341C>G	ENST00000445281.1	+	2	87	c.20C>G	c.(19-21)gCa>gGa	p.A7G	OSTN_ENST00000339051.1_Missense_Mutation_p.A7G			P61366	OSTN_HUMAN	osteocrin	7					cell differentiation|multicellular organismal development|ossification		hormone activity	p.A7G(1)		kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|skin(2)	13	all_cancers(143;6.79e-09)|Ovarian(172;0.103)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000254)		TGGAGATTGGCAAGTGCACAT	0.408000													19	19					0	0	0.062417	0	0
NLRP12	91662	broad.mit.edu	37	19	54313990	54313990	+	Missense_Mutation	SNP	C	C	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr19:54313990C>A	ENST00000324134.6	-	3	1091	c.923G>T	c.(922-924)gGa>gTa	p.G308V	NLRP12_ENST00000391772.1_Missense_Mutation_p.G308V|NLRP12_ENST00000535162.1_Missense_Mutation_p.G308V|NLRP12_ENST00000354278.3_Missense_Mutation_p.G308V|NLRP12_ENST00000345770.5_Missense_Mutation_p.G308V|NLRP12_ENST00000391775.3_Missense_Mutation_p.G308V|NLRP12_ENST00000351894.4_Missense_Mutation_p.G308V|NLRP12_ENST00000391773.1_Missense_Mutation_p.G308V	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	308	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	p.G308V(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GCACCAGGGTCCCTGAGGATC	0.577000													22	33					9.57634e-11	1.22779e-10	0.083992	1	0
LRRC4C	57689	broad.mit.edu	37	11	40136282	40136282	+	Missense_Mutation	SNP	C	C	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr11:40136282C>T	ENST00000278198.2	-	2	3524	c.1561G>A	c.(1561-1563)Gag>Aag	p.E521K	LRRC4C_ENST00000528697.1_Missense_Mutation_p.E521K|LRRC4C_ENST00000530763.1_Missense_Mutation_p.E521K|LRRC4C_ENST00000527150.1_Missense_Mutation_p.E521K			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	521					regulation of axonogenesis	integral to membrane	protein binding	p.E521K(1)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TTCATGACCTCATCAATTCCT	0.468000													8	35					0	0	0.069234	0	0
PRKCG	5582	broad.mit.edu	37	19	54401741	54401741	+	Missense_Mutation	SNP	G	G	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr19:54401741G>T	ENST00000263431.3	+	11	1422	c.1140G>T	c.(1138-1140)aaG>aaT	p.K380N	PRKCG_ENST00000542049.1_Missense_Mutation_p.K267N|PRKCG_ENST00000540413.1_Missense_Mutation_p.K380N|PRKCG_ENST00000536044.1_3'UTR	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	380	Protein kinase.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding	p.K380N(1)		large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		ACGCCATCAAGATCTTGAAAA	0.617000													28	41					2.12542e-12	2.80876e-12	0.116897	1	0
OR2T4	127074	broad.mit.edu	37	1	248525191	248525191	+	Missense_Mutation	SNP	G	G	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr1:248525191G>T	ENST00000366475.1	+	1	309	c.309G>T	c.(307-309)atG>atT	p.M103I		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M103I(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCATGGACATGGCGTACATTT	0.502000													30	202					9.04072e-19	1.2762e-18	0.183431	1	0
SPTA1	6708	broad.mit.edu	37	1	158636289	158636289	+	Splice_Site	SNP	T	T	C			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr1:158636289T>C	ENST00000368148.3	-	16	2219		c.e16-2		SPTA1_ENST00000368147.3_Splice_Site	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.?(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ACTGGGTCCCTGGGAGAAGAC	0.418000													8	16					0	0	0.038147	0	0
SNRNP200	23020	broad.mit.edu	37	2	96943347	96943347	+	Nonsense_Mutation	SNP	C	C	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr2:96943347C>T	ENST00000323853.5	-	41	5938	c.5861G>A	c.(5860-5862)tGg>tAg	p.W1954*	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1954	SEC63 2.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.W1954*(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						GTCCTTGGACCACATGGCTTG	0.582000													23	38					0	0	0.083992	0	0
EPHB2	2048	broad.mit.edu	37	1	23191570	23191570	+	Nonsense_Mutation	SNP	G	G	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr1:23191570G>T	ENST00000400191.3	+	5	1186	c.1168G>T	c.(1168-1170)Gag>Tag	p.E390*	EPHB2_ENST00000374627.1_Nonsense_Mutation_p.E384*|EPHB2_ENST00000465676.1_3'UTR|EPHB2_ENST00000544305.1_Nonsense_Mutation_p.E390*|EPHB2_ENST00000374632.3_Nonsense_Mutation_p.E390*|EPHB2_ENST00000374630.3_Nonsense_Mutation_p.E390*	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	390	Fibronectin type-III 1.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity	p.E390*(1)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		AGGCCTGACCGAGCCACGCAT	0.612000													16	36					5.3912e-06	6.02737e-06	0.175082	1	0
IMPAD1	54928	broad.mit.edu	37	8	57876473	57876473	+	Missense_Mutation	SNP	C	C	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr8:57876473C>A	ENST00000262644.4	-	5	1217	c.959G>T	c.(958-960)gGt>gTt	p.G320V		NM_017813.4	NP_060283.3	Q9NX62	IMPA3_HUMAN	inositol monophosphatase domain containing 1	320						Golgi apparatus|integral to membrane	inositol-1(or 4)-monophosphatase activity|metal ion binding	p.G320V(1)		kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448)				GATTTCTTCACCACTCAGGGT	0.463000													9	40					0.000442599	0.000469474	0.058154	1	0
ESR1	2099	broad.mit.edu	37	6	152419965	152419965	+	Missense_Mutation	SNP	C	C	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr6:152419965C>A	ENST00000440973.1	+	10	2022	c.1652C>A	c.(1651-1653)gCg>gAg	p.A551E	ESR1_ENST00000406599.1_Missense_Mutation_p.A290E|ESR1_ENST00000544394.1_Intron|ESR1_ENST00000206249.3_Missense_Mutation_p.A551E|ESR1_ENST00000456483.2_Missense_Mutation_p.A439E|ESR1_ENST00000338799.5_Missense_Mutation_p.A551E|ESR1_ENST00000443427.1_Missense_Mutation_p.A551E	NM_001122742.1	NP_001116214.1	P03372	ESR1_HUMAN	estrogen receptor 1	551	Interaction with AKAP13.|Steroid-binding.				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding	p.A551E(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)	CGCCTACATGCGCCCACTAGC	0.562000													12	24					4.36969e-10	5.44022e-10	0.105934	1	0
C3orf56	285311	broad.mit.edu	37	3	126915923	126915923	+	Missense_Mutation	SNP	T	T	C			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr3:126915923T>C	ENST00000398112.1	+	2	635	c.395T>C	c.(394-396)aTg>aCg	p.M132T		NM_001007534.2	NP_001007535.1			chromosome 3 open reading frame 56									p.M132T(1)		breast(1)|endometrium(2)|kidney(1)|lung(5)	9				GBM - Glioblastoma multiforme(114;0.142)		CCTTTCCCCATGAAATTCCCA	0.612000													59	173					0	0	0.139131	0	0
SMARCA4	6597	broad.mit.edu	37	19	11170531	11170531	+	Nonsense_Mutation	SNP	G	G	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr19:11170531G>T	ENST00000358026.2	+	34	5118	c.4834G>T	c.(4834-4836)Gag>Tag	p.E1612*	SMARCA4_ENST00000444061.3_Nonsense_Mutation_p.E1546*|SMARCA4_ENST00000344626.4_Nonsense_Mutation_p.E1580*|SMARCA4_ENST00000429416.3_Nonsense_Mutation_p.E1580*|SMARCA4_ENST00000590574.1_Nonsense_Mutation_p.E1547*|SMARCA4_ENST00000413806.3_Nonsense_Mutation_p.E1550*|SMARCA4_ENST00000589677.1_Nonsense_Mutation_p.E1549*|SMARCA4_ENST00000541122.2_Nonsense_Mutation_p.E1550*|SMARCA4_ENST00000450717.3_Nonsense_Mutation_p.E1549*	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1580					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.E1580*(1)|p.?(1)|p.E1612*(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)				ggaggaggaagagggcgagga	0.612000			"""F, N, Mis"""		NSCLC								10	6					1.76689e-08	2.07935e-08	0.058154	1	0
TMPRSS11B	132724	broad.mit.edu	37	4	69097043	69097043	+	Silent	SNP	T	T	G			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr4:69097043T>G	ENST00000332644.5	-	7	725	c.564A>C	c.(562-564)ggA>ggC	p.G188G		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	188	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	p.G188G(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						GGGAGCTTTTTCCATTCACAA	0.478000													7	8					0	0	0.047766	0	0
C2orf44	80304	broad.mit.edu	37	2	24260629	24260630	+	Frame_Shift_Ins	INS	-	-	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr2:24260629_24260630insT	ENST00000295148.4	-	2	1792_1793	c.1735_1736insA	c.(1735-1737)aaafs	p.K579fs	C2orf44_ENST00000406895.3_Frame_Shift_Ins_p.K579fs	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN	chromosome 2 open reading frame 44	579							protein binding		C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGACGGTTTGTAAGTTCAGAA	0.381			T	ALK	NSCLC								15	98	---	---	---	---					
AC096579.13	0	broad.mit.edu	37	2	89160835	89160835	+	RNA	DEL	C	C	-			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr2:89160835delC	ENST00000452230.1	-	0	39				AC096579.7_ENST00000430694.1_RNA																							AAGCCTCTTTCCCCCAATGAA	0.423													6	10	---	---	---	---					
RGPD4	285190	broad.mit.edu	37	2	108487374	108487383	+	Frame_Shift_Del	DEL	TTTGCAGATG	TTTGCAGATG	-			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr2:108487374_108487383delTTTGCAGATG	ENST00000408999.3	+	20	2991_3000	c.2914_2923delTTTGCAGATG	c.(2914-2925)ttfs	p.FADV972fs	RGPD4_ENST00000354986.4_Frame_Shift_Del_p.FADV972fs	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	972					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						CACTTTTACATTTGCAGATGTTGCAAAATC	0.405													8	88	---	---	---	---					
USP4	7375	broad.mit.edu	37	3	49321528	49321528	+	Frame_Shift_Del	DEL	T	T	-	rs138821848	by1000genomes	TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr3:49321528delT	ENST00000351842.4	-	18	2299	c.2291delA	c.(2290-2292)agfs	p.K764fs	USP4_ENST00000265560.4_Frame_Shift_Del_p.K811fs	NM_199443.2	NP_955475.1	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	811					negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		TAGGTCAAACTTTTTTGTGGC	0.502													38	25	---	---	---	---					
FAT2	2196	broad.mit.edu	37	5	150885377	150885378	+	Frame_Shift_Ins	INS	-	-	G			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr5:150885377_150885378insG	ENST00000261800.5	-	23	12810_12811	c.12798_12799insC	c.(12796-12801)ccgtctfs	p.S4267fs		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	4267					epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCATTGAGACAGGGGGCAACCA	0.639													48	118	---	---	---	---					
PKIB	5570	broad.mit.edu	37	6	123039058	123039062	+	Frame_Shift_Del	DEL	ACGGA	ACGGA	-	rs148112687		TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr6:123039058_123039062delACGGA	ENST00000392490.1	+	3	516_520	c.119_123delACGGA	c.(118-123)gfs	p.DG40fs	PKIB_ENST00000368448.1_Frame_Shift_Del_p.DG40fs|PKIB_ENST00000368446.1_Frame_Shift_Del_p.DG49fs|PKIB_ENST00000258014.3_Frame_Shift_Del_p.DG47fs|PKIB_ENST00000392491.2_Frame_Shift_Del_p.DG40fs|PKIB_ENST00000368452.2_Frame_Shift_Del_p.DG40fs|PKIB_ENST00000354275.2_Frame_Shift_Del_p.DG40fs	NM_032471.5	NP_115860.1	Q9C010	IPKB_HUMAN	protein kinase (cAMP-dependent, catalytic) inhibitor beta	40							cAMP-dependent protein kinase inhibitor activity	p.D40D(1)		large_intestine(3)|lung(1)	4				GBM - Glioblastoma multiforme(226;0.164)		GCTGCCACAGACGGAACCTCAGATT	0.502													12	98	---	---	---	---					
STAG3L2	442582	broad.mit.edu	37	7	74300557	74300564	+	RNA	DEL	AGAGCTCC	AGAGCTCC	-			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr7:74300557_74300564delAGAGCTCC	ENST00000423186.1	-	0	573_580							P0CL84	ST3L2_HUMAN								nucleus	binding	p.E82fs*32(2)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5						CGGCCAGTGAAGAGCTCCAGGCGTGCGG	0.572													4	5	---	---	---	---					
GTF2E2	2961	broad.mit.edu	37	8	30464658	30464658	+	Frame_Shift_Del	DEL	C	C	-			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr8:30464658delC	ENST00000355904.4	-	6	841	c.559delG	c.(559-561)acfs	p.D187fs	GTF2E2_ENST00000522833.1_5'UTR	NM_002095.4	NP_002086.1	P29084	T2EB_HUMAN	general transcription factor IIE, polypeptide 2, beta 34kDa	187					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription factor TFIIE complex	DNA binding|protein binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135)		AGTATCTGGTCCCCCAAAGCC	0.303													22	42	---	---	---	---					
SULF1	23213	broad.mit.edu	37	8	70488248	70488249	+	Frame_Shift_Ins	INS	-	-	G			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr8:70488248_70488249insG	ENST00000260128.4	+	6	933_934	c.216_217insG	c.(214-219)caggggfs	p.QG72fs	SULF1_ENST00000419716.3_Frame_Shift_Ins_p.QG72fs|SULF1_ENST00000458141.2_Frame_Shift_Ins_p.QG72fs|SULF1_ENST00000402687.4_Frame_Shift_Ins_p.QG72fs	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	72					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TTATGGAACATGGGGGGGCCAC	0.495													7	42	---	---	---	---					
EFR3A	23167	broad.mit.edu	37	8	132968101	132968102	+	Frame_Shift_Ins	INS	-	-	G			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr8:132968101_132968102insG	ENST00000254624.5	+	7	950_951	c.725_726insG	c.(724-726)cggfs	p.R242fs	EFR3A_ENST00000519656.1_Frame_Shift_Ins_p.R206fs|EFR3A_ENST00000334503.4_Frame_Shift_Ins_p.R242fs	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	242						plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			AGAGAACTGCTGGGTCGAGCAA	0.416													53	69	---	---	---	---					
LYPD2	137797	broad.mit.edu	37	8	143831874	143831874	+	Frame_Shift_Del	DEL	C	C	-			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr8:143831874delC	ENST00000359228.3	-	3	287	c.205delG	c.(205-207)tgfs	p.V69fs		NM_205545.1	NP_991108.1	Q6UXB3	LYPD2_HUMAN	LY6/PLAUR domain containing 2	69	UPAR/Ly6.					anchored to membrane|plasma membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GACTTGGTCACCGTGGAGTCC	0.612													5	6	---	---	---	---					
ZNF623	9831	broad.mit.edu	37	8	144732128	144732138	+	Frame_Shift_Del	DEL	ACTCACATAGG	ACTCACATAGG	-	rs143378903	byFrequency	TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr8:144732128_144732138delACTCACATAGG	ENST00000501748.2	+	1	175_185	c.86_96delACTCACATAGG	c.(85-96)afs	p.NSHR29fs	ZNF623_ENST00000458270.2_5'UTR|ZNF623_ENST00000526926.1_5'UTR	NM_014789.3	NP_055604.3	O75123	ZN623_HUMAN	zinc finger protein 623	29					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GAGGATGAAAACTCACATAGGACGACGTCAG	0.479													10	81	---	---	---	---					
DAB2IP	153090	broad.mit.edu	37	9	124522620	124522631	+	In_Frame_Del	DEL	GGGCTGTGTGCA	GGGCTGTGTGCA	-	rs112361531	by1000genomes	TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr9:124522620_124522631delGGGCTGTGTGCA	ENST00000408936.3	+	6	1254_1265	c.1072_1083delGGGCTGTGTGCA	c.(1072-1083)del	p.GLCA358del	DAB2IP_ENST00000309989.1_In_Frame_Del_p.GLCA234del|DAB2IP_ENST00000259371.2_In_Frame_Del_p.GLCA330del			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	358					activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						CCACTACCTGGGGCTGTGTGCAGCCCTCGAGC	0.594													4	8	---	---	---	---					
STOX1	219736	broad.mit.edu	37	10	70645895	70645896	+	Frame_Shift_Ins	INS	-	-	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr10:70645895_70645896insT	ENST00000298596.6	+	3	2426_2427	c.2343_2344insT	c.(2341-2346)gaacaafs	p.EQ781fs	STOX1_ENST00000399162.2_Intron|STOX1_ENST00000399165.4_Intron|STOX1_ENST00000399169.4_Frame_Shift_Ins_p.EQ781fs|STOX1_ENST00000421961.2_Frame_Shift_Ins_p.EQ671fs	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	781						cytoplasm|nucleolus	DNA binding			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						CTCTGACCGAGTACAACAGCAC	0.470													16	40	---	---	---	---					
OR52A4P	390053	broad.mit.edu	37	11	5142720	5142721	+	RNA	INS	-	-	A			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr11:5142720_5142721insA	ENST00000498233.1	-	0	677_678																				breast(1)|endometrium(2)|kidney(1)|lung(12)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		AATCCCAATCCAGCATTGTACA	0.436													36	31	---	---	---	---					
HDAC7	51564	broad.mit.edu	37	12	48178989	48178998	+	Frame_Shift_Del	DEL	GATAACCCCT	GATAACCCCT	-	rs3815134	by1000genomes	TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr12:48178989_48178998delGATAACCCCT	ENST00000599515.1	+	1	284_293	c.73_82delGATAACCCCT	c.(73-84)cafs	p.DNPS25fs	HDAC7_ENST00000354334.3_Intron|HDAC7_ENST00000427332.2_Intron|HDAC7_ENST00000080059.7_Intron|HDAC7_ENST00000552960.1_Intron|HDAC7_ENST00000380610.4_Intron																							GGGCTCAGAGGATAACCCCTCACTGGGGGG	0.624													6	6	---	---	---	---					
SVOP	55530	broad.mit.edu	37	12	109306364	109306364	+	Frame_Shift_Del	DEL	G	G	-			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr12:109306364delG	ENST00000299134.5	-	14	1397	c.1398delC	c.(1396-1398)gcfs	p.A466fs		NM_018711.2	NP_061181.1	Q8N4V2	SVOP_HUMAN	SV2 related protein homolog (rat)	0						cell junction|integral to membrane|synaptic vesicle membrane	ion transmembrane transporter activity			breast(2)|lung(4)	6						TGCATTCCTCGGCCGACCATC	0.622													28	149	---	---	---	---					
ZC3H7A	29066	broad.mit.edu	37	16	11846653	11846655	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr16:11846653_11846655delGCA	ENST00000396516.2	-	21	2793_2795	c.2596_2598delTGC	c.(2596-2598)del	p.C866del	ZC3H7A_ENST00000575984.1_In_Frame_Del_p.C62del|ZC3H7A_ENST00000355758.4_In_Frame_Del_p.C866del			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	866						nucleus	nucleic acid binding|zinc ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						TCTCACTGTTGCAGTTTTTCCCA	0.522													21	76	---	---	---	---					
ZNF423	23090	broad.mit.edu	37	16	49856567	49856581	+	Splice_Site	DEL	CCTCCCCTGCTCACC	CCTCCCCTGCTCACC	-			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr16:49856567_49856581delCCTCCCCTGCTCACC	ENST00000561648.1	-	1	69_70	c.16_splice	c.e1+1	p.6_splice	ZNF423_ENST00000562520.1_Intron|ZNF423_ENST00000563137.2_Intron|ZNF423_ENST00000262383.2_Splice_Site_p.6_splice	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	6					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				CAGCCCAAGGCCTCCCCTGCTCACCCCTCTTCTTA	0.479													13	39	---	---	---	---					
KEAP1	9817	broad.mit.edu	37	19	10597426	10597426	+	Frame_Shift_Del	DEL	C	C	-			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr19:10597426delC	ENST00000171111.5	-	6	2324	c.1777delG	c.(1777-1779)agfs	p.E593fs	KEAP1_ENST00000393623.2_Frame_Shift_Del_p.E593fs	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	593					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	p.E593*(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			CGGGTCACCTCGCTCCAGGTG	0.592													66	29	---	---	---	---					
SPTBN4	57731	broad.mit.edu	37	19	41073667	41073668	+	Frame_Shift_Ins	INS	-	-	T			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr19:41073667_41073668insT	ENST00000352632.3	+	31	6521_6522	c.6435_6436insT	c.(6433-6438)gcccctfs	p.AP2145fs	SPTBN4_ENST00000392025.1_Frame_Shift_Ins_p.AP888fs|SPTBN4_ENST00000598249.1_Frame_Shift_Ins_p.AP2145fs			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	2145					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCAAGGCGGCGCCCCTGCTGCG	0.673													2	4	---	---	---	---					
PARD6B	84612	broad.mit.edu	37	20	49366995	49366997	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr20:49366995_49366997delAGA	ENST00000371610.2	+	3	1332_1334	c.1089_1091delAGA	c.(1087-1092)tta>tt	p.LE363del	PARD6B_ENST00000396039.1_Intron	NM_032521.2	NP_115910.1	Q9BYG5	PAR6B_HUMAN	par-6 family cell polarity regulator beta	363					axonogenesis|cell cycle|cell division|establishment or maintenance of cell polarity|protein complex assembly|regulation of cell migration|tight junction assembly	cytosol|tight junction	protein binding			NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						AAAAACTCTTAGAAGAAGATGGA	0.389													7	59	---	---	---	---					
SETD4	54093	broad.mit.edu	37	21	37416253	37416263	+	Splice_Site	DEL	ACCTAGAAAGA	ACCTAGAAAGA	-			TCGA-35-5375-01A-01D-1625-08	TCGA-35-5375-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63e76bef-3ef1-445f-b591-649d774729cd	7239290c-75aa-4e69-a58d-95e43ea4c9cf	g.chr21:37416253_37416263delACCTAGAAAGA	ENST00000399215.1	-	6	2099_2100	c.726_splice	c.e6-1	p.243_splice	SETD4_ENST00000399207.1_Splice_Site_p.243_splice|SETD4_ENST00000399201.1_Splice_Site_p.219_splice|SETD4_ENST00000399205.1_Splice_Site_p.219_splice|SETD4_ENST00000399208.2_Splice_Site_p.243_splice|SETD4_ENST00000399212.1_Splice_Site_p.219_splice|AP000688.1_ENST00000600312.1_Intron|SETD4_ENST00000332131.4_Splice_Site_p.243_splice|SETD4_ENST00000481477.1_5'UTR			Q9NVD3	SETD4_HUMAN	SET domain containing 4	243	SET.									autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	15						CGCTGCTTTTACCTAGAAAGAAAAACTGTTA	0.355													8	32	---	---	---	---					
