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
XPO1	7514	broad.mit.edu	37	2	61719213	61719213	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:61719213A>G	ENST00000401558.2	-	16	2571	c.1844T>C	c.(1843-1845)tTg>tCg	p.L615S	XPO1_ENST00000406957.1_Missense_Mutation_p.L615S|XPO1_ENST00000404992.2_Missense_Mutation_p.L615S	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1 (CRM1 homolog, yeast)	615	Necessary for HTLV-1 Rex-mediated mRNA export.				intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle	annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	protein binding|protein transporter activity|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			AATGTTGTTCAAAATTTCATC	0.348000			Mis		CLL								30	29					0	0	1	0	0
ALK	238	broad.mit.edu	37	2	29551258	29551258	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:29551258G>A	ENST00000389048.3	-	6	2278	c.1372C>T	c.(1372-1374)Cac>Tac	p.H458Y	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	458	LDL-receptor class A.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	CAGTCCTGGTGGAAGTCACAG	0.607000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				31	49					0	0	1	0	0
SOAT2	8435	broad.mit.edu	37	12	53509922	53509922	+	Silent	SNP	T	T	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr12:53509922T>A	ENST00000301466.3	+	7	810	c.750T>A	c.(748-750)gcT>gcA	p.A250A		NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN	sterol O-acyltransferase 2	250					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18						TGAGAGAGGCTGTGCCTGGGA	0.532000													20	33					0	0	1	0	0
ERCC4	2072	broad.mit.edu	37	16	14041539	14041539	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr16:14041539C>T	ENST00000311895.7	+	11	2095	c.2086C>T	c.(2086-2088)Cca>Tca	p.P696S		NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 4	696	ERCC4.|Interaction with EME1 and ERCC1.				double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						AAGTGAGCTTCCATCTCTGAT	0.468000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				65	55					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11593689	11593689	+	Missense_Mutation	SNP	G	G	A	rs139715944		TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr17:11593689G>A	ENST00000262442.3	+	20	4618	c.4550G>A	c.(4549-4551)cGa>cAa	p.R1517Q	DNAH9_ENST00000454412.2_Missense_Mutation_p.R1517Q	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1517	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GAAGTGCAGCGAACATGGACT	0.483000													46	5					0	0	1	0	0
ZNF235	9310	broad.mit.edu	37	19	44792954	44792954	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr19:44792954G>A	ENST00000291182.4	-	5	736	c.634C>T	c.(634-636)Cca>Tca	p.P212S	ZNF235_ENST00000589248.1_Intron|ZNF235_ENST00000589799.1_Intron	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	212					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			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)				TCAACATATGGAGCAAATATA	0.323000													28	25					0	0	1	0	0
NEDD1	121441	broad.mit.edu	37	12	97339573	97339573	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr12:97339573C>T	ENST00000266742.4	+	14	2096	c.1757C>T	c.(1756-1758)tCc>tTc	p.S586F	NEDD1_ENST00000557644.1_Missense_Mutation_p.S593F|NEDD1_ENST00000411739.2_Missense_Mutation_p.S497F|NEDD1_ENST00000457368.2_Missense_Mutation_p.S497F|NEDD1_ENST00000429527.2_Missense_Mutation_p.S586F	NM_152905.3	NP_690869.1	Q8NHV4	NEDD1_HUMAN	neural precursor cell expressed, developmentally down-regulated 1	586					cell division|G2/M transition of mitotic cell cycle|mitosis	cytosol				breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						CCATTGACTTCCATTCAAATT	0.388000													19	11					0	0	1	0	0
EIF2AK3	9451	broad.mit.edu	37	2	88890400	88890400	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:88890400G>A	ENST00000303236.3	-	5	1239	c.938C>T	c.(937-939)tCg>tTg	p.S313L	EIF2AK3_ENST00000419748.1_Missense_Mutation_p.S162L	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	313					activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						GTCAGCAACCGAAACCTTTAT	0.418000													43	85					0	0	1	0	0
RDX	5962	broad.mit.edu	37	11	110124729	110124729	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:110124729C>T	ENST00000343115.4	-	9	1220	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K	RDX_ENST00000544551.1_Missense_Mutation_p.E165K|RDX_ENST00000405097.1_Missense_Mutation_p.E301K|RDX_ENST00000530301.1_Intron|RDX_ENST00000528900.1_Intron|RDX_ENST00000528498.1_Missense_Mutation_p.E301K	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	301					actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		TGTTGTACTTCAATAGTATCA	0.413000													38	14					0	0	1	0	0
GSTM2	2946	broad.mit.edu	37	1	110217383	110217383	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:110217383C>T	ENST00000241337.4	+	8	632	c.582C>T	c.(580-582)atC>atT	p.I194I	GSTM2_ENST00000460717.3_Intron|GSTM2_ENST00000369831.2_Intron|GSTM2_ENST00000442650.1_Intron|GSTM2_ENST00000369827.3_Silent_p.I155I|GSTM2_ENST00000414179.2_Intron	NM_000848.3	NP_000839.1			glutathione S-transferase mu 2 (muscle)											kidney(1)|large_intestine(2)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	11		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)		TGGAGAAGATCTCTGCCTACA	0.577000													135	6					0	0	1	0	0
CRAMP1L	57585	broad.mit.edu	37	16	1682273	1682273	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr16:1682273A>G	ENST00000397412.3	+	4	700	c.601A>G	c.(601-603)Aag>Gag	p.K201E	CRAMP1L_ENST00000293925.5_Missense_Mutation_p.K201E|CRAMP1L_ENST00000436138.3_Missense_Mutation_p.K198E|LA16c-431H6.6_ENST00000454337.1_Missense_Mutation_p.Q5R			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	201	SANT.					nucleus	DNA binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						GAAGAAAGGCAAGCCAGCAAG	0.448000													3	3					0	0	1	0	0
SGSM1	129049	broad.mit.edu	37	22	25308672	25308672	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr22:25308672G>A	ENST00000400358.4	+	22	2938	c.2881G>A	c.(2881-2883)Gga>Aga	p.G961R	SGSM1_ENST00000400359.4_Missense_Mutation_p.G1016R	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	1016	Rab-GAP TBC.					Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						CTTCCCCCACGGAGGCGCCAT	0.512000													13	10					0	0	1	0	0
ATR	545	broad.mit.edu	37	3	142253969	142253969	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:142253969G>A	ENST00000350721.4	-	21	4019	c.3898C>T	c.(3898-3900)Cgt>Tgt	p.R1300C	ATR_ENST00000383101.3_Missense_Mutation_p.R1236C	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	1300					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GCATGAATACGAACATCGACA	0.358000								Other conserved DNA damage response genes					24	12					0	0	1	0	0
IGHG4	3503	broad.mit.edu	37	14	106091257	106091257	+	RNA	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr14:106091257C>T	ENST00000390543.2	-	0	636																											ATGGTTTTCTCGATGGAGGAC	0.622000													80	191					0	0	1	0	0
AGR2	10551	broad.mit.edu	37	7	16841388	16841388	+	Silent	SNP	G	G	T	rs142256080	by1000genomes	TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr7:16841388G>T	ENST00000419304.2	-	2	185	c.33C>A	c.(31-33)ctC>ctA	p.L11L	AGR2_ENST00000401412.1_Silent_p.L11L|AGR2_ENST00000419572.2_Silent_p.L31L	NM_006408.3	NP_006399.1	O95994	AGR2_HUMAN	anterior gradient 2	11					mucus secretion	endoplasmic reticulum|extracellular region	protein binding			endometrium(2)|lung(1)|prostate(1)|skin(2)	6	Lung NSC(10;0.0376)|all_lung(11;0.0855)			UCEC - Uterine corpus endometrioid carcinoma (126;0.184)		GGGCCACAAGGAGCAAGAATG	0.478000													21	23					1.28384e-07	1.28384e-07	1	1	0
PON1	5444	broad.mit.edu	37	7	94953763	94953763	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr7:94953763G>A	ENST00000222381.3	-	1	256	c.25C>T	c.(25-27)Ctc>Ttc	p.L9F	PON1_ENST00000542556.1_Intron	NM_000446.5	NP_000437.3	P27169	PON1_HUMAN	paraoxonase 1	9					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	ATCCCCAAGAGGGTGAGCGCA	0.612000													23	10					0	0	1	0	0
SCN7A	6332	broad.mit.edu	37	2	167288995	167288995	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:167288995C>T	ENST00000409855.1	-	15	2551	c.2425G>A	c.(2425-2427)Gaa>Aaa	p.E809K		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	809					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						CTGCTTTTTTCCTTATCTTTG	0.398000													57	64					0	0	1	0	0
OR1F1	4992	broad.mit.edu	37	16	3254555	3254555	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr16:3254555C>T	ENST00000304646.2	+	1	309	c.309C>T	c.(307-309)ttC>ttT	p.F103F	AJ003147.9_ENST00000576468.1_RNA	NM_012360.1	NP_036492.1	O43749	OR1F1_HUMAN	olfactory receptor, family 1, subfamily F, member 1	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						AGATGTATTTCGTTTTCATGT	0.493000													79	124					0	0	1	0	0
SDK2	54549	broad.mit.edu	37	17	71391530	71391530	+	Splice_Site	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr17:71391530G>A	ENST00000392650.3	-	25	3356	c.3354_splice	c.e25-1	p.P1119_splice	SDK2_ENST00000388726.3_Splice_Site_p.P1119_splice	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1119	Fibronectin type-III 6.				cell adhesion	integral to membrane				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						CTCCGGGAGAGGCTGCAGCGG	0.632000													28	5					0	0	1	0	0
COL20A1	57642	broad.mit.edu	37	20	61939901	61939901	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr20:61939901C>T	ENST00000422202.1	+	7	872	c.804C>T	c.(802-804)gcC>gcT	p.A268A	COL20A1_ENST00000326996.6_Silent_p.A261A|COL20A1_ENST00000435874.1_Silent_p.A268A|COL20A1_ENST00000358894.6_Silent_p.A261A			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	261	VWFA.				cell adhesion	collagen|extracellular space	structural molecule activity			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)					AAGGCCTTGCCCTGACCCACG	0.652000													9	7					0	0	1	0	0
OR2A25	392138	broad.mit.edu	37	7	143772195	143772195	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr7:143772195G>A	ENST00000408898.2	+	1	921	c.883G>A	c.(883-885)Gaa>Aaa	p.E295K		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					TAGGAACAAGGAAGTCCAAGG	0.413000													119	220					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884123	228884123	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:228884123G>A	ENST00000392056.3	-	7	1493	c.1447C>T	c.(1447-1449)Ctc>Ttc	p.L483F	SPHKAP_ENST00000344657.5_Missense_Mutation_p.L483F	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	483				L -> P (in Ref. 1; CAH18317).		cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TCTCCAGAGAGGATGCTTGAG	0.537000													10	15					0	0	1	0	0
SYT10	341359	broad.mit.edu	37	12	33592331	33592331	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr12:33592331C>T	ENST00000228567.3	-	1	423	c.127G>A	c.(127-129)Ggc>Agc	p.G43S	SYT10_ENST00000535526.1_5'UTR	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	43						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					CCCTGGCTGCCCCTGTCCCGA	0.682000													38	38					0	0	1	0	0
RXRG	6258	broad.mit.edu	37	1	165398092	165398092	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:165398092C>T	ENST00000359842.5	-	2	463	c.161G>A	c.(160-162)cGg>cAg	p.R54Q		NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	54	Modulating (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	ACTCAGAGTCCGTGGGGCACT	0.612000													63	6					0	0	1	0	0
DOCK7	85440	broad.mit.edu	37	1	63099229	63099229	+	Silent	SNP	T	T	C			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:63099229T>C	ENST00000251157.5	-	10	1089	c.1056A>G	c.(1054-1056)caA>caG	p.Q352Q	DOCK7_ENST00000404627.2_Silent_p.Q352Q|DOCK7_ENST00000340370.5_Silent_p.Q352Q	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	352					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						CAATGTCTCCTTGCTGTAGGA	0.353000													210	11					0	0	1	0	0
ATP5EP2	432369	broad.mit.edu	37	13	28519450	28519450	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr13:28519450C>T	ENST00000381026.3	+	1	108	c.54C>T	c.(52-54)atC>atT	p.I18I																	ovary(1)	1						ACTCCCAGATCTGTGCAAAAG	0.483000													9	7					0	0	1	0	0
SMC1B	27127	broad.mit.edu	37	22	45795178	45795178	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr22:45795178T>A	ENST00000357450.4	-	6	909	c.910A>T	c.(910-912)Aac>Tac	p.N304Y	SMC1B_ENST00000404354.3_Missense_Mutation_p.N304Y	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	304					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TGAGAAGTGTTTTCTTTGGCT	0.338000													43	32					0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136599171	136599171	+	Missense_Mutation	SNP	C	C	T	rs145724464		TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr6:136599171C>T	ENST00000531224.1	-	4	1100	c.848G>A	c.(847-849)cGa>cAa	p.R283Q	BCLAF1_ENST00000527536.1_Missense_Mutation_p.R283Q|BCLAF1_ENST00000527759.1_Missense_Mutation_p.R281Q|BCLAF1_ENST00000392348.2_Missense_Mutation_p.R281Q|BCLAF1_ENST00000353331.4_Missense_Mutation_p.R281Q|BCLAF1_ENST00000530767.1_Missense_Mutation_p.R283Q	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	283					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		AGGACTGTATCGACTAGATCC	0.443000													17	23					0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22170655	22170655	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:22170655G>A	ENST00000374695.3	-	65	8681	c.8602C>T	c.(8602-8604)Cct>Tct	p.P2868S		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2868	Ig-like C2-type 14.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	TGCCGGGCAGGGAGGTTTCCT	0.632000													90	10					0	0	1	0	0
POU3F3	5455	broad.mit.edu	37	2	105473140	105473140	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:105473140C>T	ENST00000361360.2	+	1	1172	c.1172C>T	c.(1171-1173)aCc>aTc	p.T391I	RP11-13J10.1_ENST00000598623.1_RNA	NM_006236.1	NP_006227.1	P20264	PO3F3_HUMAN	POU class 3 homeobox 3	391					metanephric ascending thin limb development|metanephric DCT cell differentiation|metanephric macula densa development|metanephric thick ascending limb development|negative regulation of apoptosis|positive regulation of cell proliferation	nucleus	sequence-specific DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						GACTCAAGCACCGGCAGCCCC	0.632000													11	17					0	0	1	0	0
ATP9A	10079	broad.mit.edu	37	20	50230308	50230308	+	Silent	SNP	A	A	G			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr20:50230308A>G	ENST00000338821.5	-	23	2743	c.2479T>C	c.(2479-2481)Ttg>Ctg	p.L827L	ATP9A_ENST00000311637.5_Silent_p.L691L|ATP9A_ENST00000402822.1_Silent_p.L706L	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	827					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						ACCATAAGCAACCGGCCAAGA	0.507000													142	172					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21060949	21060949	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr16:21060949A>G	ENST00000261383.3	-	31	4401	c.4402T>C	c.(4402-4404)Ttc>Ctc	p.F1468L	DNAH3_ENST00000415178.1_Missense_Mutation_p.F1468L	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1468	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AGCCCCTTGAAGAACTTCCCC	0.507000													45	46					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3141767	3141767	+	Missense_Mutation	SNP	G	G	C			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr8:3141767G>C	ENST00000520002.1	-	27	4610	c.4055C>G	c.(4054-4056)tCc>tGc	p.S1352C	CSMD1_ENST00000602557.1_Missense_Mutation_p.S1352C|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000400186.3_Missense_Mutation_p.S1352C|CSMD1_ENST00000542608.1_Missense_Mutation_p.S1351C|CSMD1_ENST00000537824.1_Missense_Mutation_p.S1351C|CSMD1_ENST00000602723.1_Missense_Mutation_p.S1352C|CSMD1_ENST00000539096.1_Missense_Mutation_p.S1351C			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1352	CUB 8.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CGGAAGGGCGGAGCCACTCCA	0.562000											OREG0018505	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	14					0	0	1	0	0
OAZ3	51686	broad.mit.edu	37	1	151740640	151740640	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:151740640G>A	ENST00000315067.8	+	4	442	c.275G>A	c.(274-276)gGc>gAc	p.G92D	OAZ3_ENST00000577465.1_3'UTR|OAZ3_ENST00000453029.2_Missense_Mutation_p.G105D|OAZ3_ENST00000479764.1_Intron|OAZ3_ENST00000321531.5_Missense_Mutation_p.G92D|OAZ3_ENST00000400999.1_5'UTR|RP11-98D18.3_ENST00000512280.1_RNA			Q9UMX2	OAZ3_HUMAN	ornithine decarboxylase antizyme 3	89					cellular nitrogen compound metabolic process|regulation of cellular amino acid metabolic process|spermatogenesis	cytosol|nucleus	ornithine decarboxylase inhibitor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	9	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)		L-Ornithine(DB00129)	CATTGGCACGGCCTTCTCTGT	0.567000													45	1					0	0	1	0	0
GJC1	10052	broad.mit.edu	37	17	42883111	42883111	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr17:42883111G>A	ENST00000426548.1	-	3	344	c.75C>T	c.(73-75)ctC>ctT	p.L25L	GJC1_ENST00000330514.4_Silent_p.L25L|GJC1_ENST00000592524.1_Silent_p.L25L|GJC1_ENST00000590758.1_Silent_p.L25L	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	P36383	CXG1_HUMAN	gap junction protein, gamma 1, 45kDa	25					cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane				NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				TCAGAACAGTGAGCCAGATCT	0.473000													24	6					0	0	1	0	0
PLG	5340	broad.mit.edu	37	6	161128794	161128794	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr6:161128794C>T	ENST00000308192.9	+	3	311	c.248C>T	c.(247-249)tCc>tTc	p.S83F	PLG_ENST00000366924.2_Missense_Mutation_p.S83F|PLG_ENST00000462918.1_3'UTR	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	83	PAN.				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			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)	AGGAAGTCCTCCATAATCATT	0.408000													44	89					0	0	1	0	0
CETN1	1068	broad.mit.edu	37	18	580552	580552	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr18:580552C>T	ENST00000327228.3	+	1	186	c.144C>T	c.(142-144)atC>atT	p.I48I		NM_004066.1	NP_004057.1	Q12798	CETN1_HUMAN	centrin, EF-hand protein, 1	48	EF-hand 1.				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding	p.I48I(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						GTGGGACCATCGACGCGAAGG	0.552000													27	14					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100350221	100350221	+	RNA	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr7:100350221C>T	ENST00000542585.1	+	0	2641				ZAN_ENST00000348028.3_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AAACCACCACCTCTGTTGAAG	0.512000													45	97					0	0	1	0	0
ZMAT4	79698	broad.mit.edu	37	8	40554838	40554838	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr8:40554838G>A	ENST00000297737.6	-	4	421	c.275C>T	c.(274-276)tCc>tTc	p.S92F	ZMAT4_ENST00000315769.7_Missense_Mutation_p.S92F	NM_024645.2	NP_078921.1	Q9H898	ZMAT4_HUMAN	zinc finger, matrin-type 4	92						nucleus	DNA binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			TTGATAATGGGAATCGGCCAC	0.502000													49	9					0	0	1	0	0
SIM1	6492	broad.mit.edu	37	6	100901712	100901712	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr6:100901712C>T	ENST00000369208.3	-	3	966	c.184G>A	c.(184-186)Gag>Aag	p.E62K	SIM1_ENST00000262901.4_Missense_Mutation_p.E62K			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	62					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			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)		CCCCACGCCTCGCCGAGCCCT	0.627000													17	39					0	0	1	0	0
ARHGAP39	80728	broad.mit.edu	37	8	145757761	145757761	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr8:145757761C>T	ENST00000276826.5	-	8	3016	c.2815G>A	c.(2815-2817)Gag>Aag	p.E939K	ARHGAP39_ENST00000377307.2_Missense_Mutation_p.E970K|ARHGAP39_ENST00000540274.1_Missense_Mutation_p.E939K			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	939	Rho-GAP.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						GCATTCACCTCGTCAATGTCC	0.642000													25	38					0	0	1	0	0
MUC13	56667	broad.mit.edu	37	3	124632017	124632017	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:124632017C>T	ENST00000311075.3	-	8	1190	c.1152G>A	c.(1150-1152)ggG>ggA	p.G384G		NM_033049.3	NP_149038.3	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	384	EGF-like 3.					extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						ACTCAGGGGCCCCACCACTCT	0.468000													39	24					0	0	1	0	0
OR5AS1	219447	broad.mit.edu	37	11	55798066	55798066	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:55798066C>T	ENST00000313555.1	+	1	172	c.172C>T	c.(172-174)Ccc>Tcc	p.P58S		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					CCTTCAAATTCCCATGTATTA	0.338000													9	38					0	0	1	0	0
PARD3B	117583	broad.mit.edu	37	2	206480365	206480365	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:206480365C>T	ENST00000406610.2	+	23	3653	c.3446C>T	c.(3445-3447)cCc>cTc	p.P1149L	PARD3B_ENST00000351153.1_Missense_Mutation_p.P1080L|PARD3B_ENST00000358768.2_Missense_Mutation_p.P1087L|PARD3B_ENST00000349953.3_Missense_Mutation_p.P1048L|PARD3B_ENST00000488622.1_3'UTR	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	1149	Poly-Pro.				cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		CCGCCAGCTCCCCAGCACAAA	0.627000													39	46					0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12656627	12656627	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr17:12656627C>T	ENST00000425538.1	+	10	2222	c.2022C>T	c.(2020-2022)gtC>gtT	p.V674V	MYOCD_ENST00000343344.4_Silent_p.V674V|MYOCD_ENST00000395988.1_Silent_p.V578V	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	647					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		GGCACAGGGTCTCCTCGCCCA	0.572000													31	6					0	0	1	0	0
OR10S1	219873	broad.mit.edu	37	11	123847718	123847718	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:123847718G>A	ENST00000531945.1	-	1	770	c.681C>T	c.(679-681)ctC>ctT	p.L227L		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		AAATAACGATGAGGATGAGGC	0.582000													37	22					0	0	1	0	0
SMARCD2	6603	broad.mit.edu	37	17	61914862	61914862	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr17:61914862G>A	ENST00000448276.2	-	2	605	c.340C>T	c.(340-342)Cca>Tca	p.P114S	SMARCD2_ENST00000225742.9_Missense_Mutation_p.P39S|SMARCD2_ENST00000323347.10_Missense_Mutation_p.P66S	NM_001098426.1	NP_001091896.1	Q92925	SMRD2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2	114	Pro-rich.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex	protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)	8						TTTCGGAATGGATCCATCATG	0.642000													56	12					0	0	1	0	0
MAML1	9794	broad.mit.edu	37	5	179201279	179201279	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr5:179201279C>T	ENST00000292599.3	+	5	2715	c.2452C>T	c.(2452-2454)Cct>Tct	p.P818S	MAML1_ENST00000503050.1_Intron	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	mastermind-like 1 (Drosophila)	818					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GACCCTGAACCCTGGTTTAAC	0.597000													7	23					0	0	1	0	0
SP140	11262	broad.mit.edu	37	2	231155212	231155212	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:231155212G>A	ENST00000392045.3	+	19	1872	c.1758G>A	c.(1756-1758)aaG>aaA	p.K586K	SP140_ENST00000420434.3_Silent_p.K559K|SP140_ENST00000350136.5_Silent_p.K455K|SP140_ENST00000417495.3_Silent_p.K472K|SP140_ENST00000343805.6_Silent_p.K526K|SP140_ENST00000486687.2_Silent_p.K510K	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	586	SAND.				defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TGGATTTTAAGGCTCCTTTGC	0.433000													38	46					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10428585	10428585	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr17:10428585C>T	ENST00000245503.5	-	33	5002	c.4618G>A	c.(4618-4620)Gaa>Aaa	p.E1540K	CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.E1540K|CTC-297N7.7_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1540					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TTTTCTTGTTCCACTTGTTTC	0.373000													26	7					0	0	1	0	0
OR7E24	26648	broad.mit.edu	37	19	9362470	9362470	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr19:9362470G>A	ENST00000456448.1	+	1	865	c.751G>A	c.(751-753)Ggg>Agg	p.G251R		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						AACATCAGATGGGAAGTATAA	0.443000													4	12					0	0	1	0	0
KLHDC10	23008	broad.mit.edu	37	7	129769350	129769350	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr7:129769350C>T	ENST00000335420.5	+	9	1187	c.1053C>T	c.(1051-1053)ttC>ttT	p.F351F		NM_014997.3	NP_055812.1	Q6PID8	KLD10_HUMAN	kelch domain containing 10	351										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|liver(2)|lung(10)|prostate(1)	17						TGCAGACTTTCCAATGGGTGA	0.408000													45	52					0	0	1	0	0
AKAP4	8852	broad.mit.edu	37	X	49958047	49958047	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chrX:49958047C>T	ENST00000376056.2	-	5	1440	c.1290G>A	c.(1288-1290)aaG>aaA	p.K430K	AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000358526.2_Silent_p.K439K|AKAP4_ENST00000376058.2_Intron|AKAP4_ENST00000376064.3_Silent_p.K430K			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	439					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					ACTTAGTCTCCTTCTCCTCAC	0.458000													52	4					0	0	1	0	0
CHRM2	1129	broad.mit.edu	37	7	136700673	136700673	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr7:136700673G>A	ENST00000445907.2	+	3	1589	c.1061G>A	c.(1060-1062)gGa>gAa	p.G354E	AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000425981.2_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.G354E|AC009264.1_ENST00000593789.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.G354E|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000439694.1_RNA|AC009264.1_ENST00000586239.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.G354E|CHRM2_ENST00000401861.1_Missense_Mutation_p.G354E|CHRM2_ENST00000453373.1_Missense_Mutation_p.G354E	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	354					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	GGTCAGAATGGAGATGAAAAG	0.473000													25	60					0	0	1	0	0
LAMB3	3914	broad.mit.edu	37	1	209791952	209791952	+	Silent	SNP	G	G	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:209791952G>T	ENST00000391911.1	-	18	3143	c.2754C>A	c.(2752-2754)gcC>gcA	p.A918A	LAMB3_ENST00000356082.4_Silent_p.A918A|LAMB3_ENST00000367030.3_Silent_p.A918A	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	918	Domain I.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		GCAGCCACAGGGCCAGCACGG	0.587000													64	7					2.89935e-36	2.94612e-36	1	1	0
GPC5	2262	broad.mit.edu	37	13	92101078	92101078	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr13:92101078G>A	ENST00000377067.3	+	2	599	c.227G>A	c.(226-228)aGa>aAa	p.R76K		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	76						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				ATGGAGGAGAGATATCAGATT	0.428000													106	37					0	0	1	0	0
CASC1	55259	broad.mit.edu	37	12	25297576	25297576	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr12:25297576C>T	ENST00000354189.5	-	9	934	c.899G>A	c.(898-900)gGa>gAa	p.G300E	CASC1_ENST00000545133.1_Missense_Mutation_p.G177E|CASC1_ENST00000557684.1_5'UTR|CASC1_ENST00000537577.1_Missense_Mutation_p.G124E|CASC1_ENST00000395987.3_Missense_Mutation_p.G242E|CASC1_ENST00000395990.2_Missense_Mutation_p.G196E|CASC1_ENST00000320267.9_Missense_Mutation_p.G236E	NM_001082972.1	NP_001076441.1	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	236										breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			AATCTCAAATCCAATTTGTGT	0.378000													7	14					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179522816	179522816	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:179522816G>A	ENST00000589042.1	-	186	38004	c.37780C>T	c.(37780-37782)Ccg>Tcg	p.P12594S	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10846	Ig-like 84.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			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)			GGGACAATCGGAGCTTCTGGT	0.408000													13	122					0	0	1	0	0
RRP1B	23076	broad.mit.edu	37	21	45107444	45107444	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr21:45107444C>T	ENST00000340648.4	+	13	1306	c.1189C>T	c.(1189-1191)Caa>Taa	p.Q397*		NM_015056.2	NP_055871.1	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1B	397					rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		AAGCAGTCTTCAAAAGAGAAG	0.532000													32	51					0	0	1	0	0
CYP19A1	1588	broad.mit.edu	37	15	51510800	51510800	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr15:51510800G>A	ENST00000396402.1	-	6	834	c.681C>T	c.(679-681)ctC>ctT	p.L227L	CYP19A1_ENST00000559878.1_Silent_p.L227L|CYP19A1_ENST00000260433.2_Silent_p.L227L|CYP19A1_ENST00000396404.4_Silent_p.L227L|RP11-108K3.1_ENST00000559909.1_lincRNA	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN	cytochrome P450, family 19, subfamily A, polypeptide 1	227					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	GTTTGATGAGGAGAGCTTGCC	0.343000													14	17					0	0	1	0	0
NCAPD2	9918	broad.mit.edu	37	12	6639007	6639007	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr12:6639007C>T	ENST00000315579.5	+	29	4519	c.3720C>T	c.(3718-3720)ctC>ctT	p.L1240L	NCAPD2_ENST00000545962.1_Silent_p.L1195L	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	1240					cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						AGCGAGGCCTCCGTAAGATGC	0.527000													27	54					0	0	1	0	0
OR5AK2	390181	broad.mit.edu	37	11	56757009	56757009	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:56757009G>A	ENST00000326855.2	+	1	663	c.621G>A	c.(619-621)ttG>ttA	p.L207L		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						GATCTAACTTGATATTCACTG	0.403000													26	90					0	0	1	0	0
NDRG4	65009	broad.mit.edu	37	16	58537757	58537757	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr16:58537757C>T	ENST00000394282.4	+	4	640	c.233C>T	c.(232-234)cCc>cTc	p.P78L	NDRG4_ENST00000563022.1_3'UTR|NDRG4_ENST00000566192.1_Missense_Mutation_p.P26L|NDRG4_ENST00000569923.1_5'UTR|NDRG4_ENST00000562999.1_Missense_Mutation_p.P26L|NDRG4_ENST00000394279.2_Missense_Mutation_p.P58L|NDRG4_ENST00000568640.1_Missense_Mutation_p.P44L|NDRG4_ENST00000570248.1_Missense_Mutation_p.P26L|NDRG4_ENST00000258187.5_Missense_Mutation_p.P58L|NDRG4_ENST00000356752.4_Missense_Mutation_p.P56L|NDRG4_ENST00000563799.1_Missense_Mutation_p.P26L	NM_001130487.1	NP_001123959.1	Q9ULP0	NDRG4_HUMAN	NDRG family member 4	26					cell differentiation|cell growth|multicellular organismal development|response to stress	cytoplasm				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						CGGGGCTCCCCCAAGGGGAAC	0.627000													18	37					0	0	1	0	0
NPFFR2	10886	broad.mit.edu	37	4	73013148	73013148	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr4:73013148G>A	ENST00000308744.6	+	4	1286	c.1188G>A	c.(1186-1188)atG>atA	p.M396I	NPFFR2_ENST00000344413.5_3'UTR|NPFFR2_ENST00000358749.3_Missense_Mutation_p.M294I|NPFFR2_ENST00000506359.1_3'UTR|NPFFR2_ENST00000395999.1_Missense_Mutation_p.M297I	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	396					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			GGACTCTAATGATGCTCTCAG	0.488000													40	49					0	0	1	0	0
CPEB1	64506	broad.mit.edu	37	15	83218370	83218370	+	Nonsense_Mutation	SNP	A	A	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr15:83218370A>T	ENST00000562833.1	-	5	442	c.443T>A	c.(442-444)tTg>tAg	p.L148*	CPEB1_ENST00000450751.2_Missense_Mutation_p.F338L|RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000563800.1_Missense_Mutation_p.F440L|CPEB1_ENST00000562019.1_Missense_Mutation_p.F418L|CPEB1_ENST00000568128.1_Missense_Mutation_p.F413L|CPEB1_ENST00000568757.1_Missense_Mutation_p.F338L|CPEB1_ENST00000423133.2_Missense_Mutation_p.F338L|CPEB1_ENST00000564522.1_Missense_Mutation_p.F338L|CPEB1_ENST00000398592.2_Missense_Mutation_p.F187L|CPEB1_ENST00000398591.2_Missense_Mutation_p.F343L|CPEB1_ENST00000261723.6_Missense_Mutation_p.F416L																							GGCTCCGGACAAAGTTACTGT	0.562000													16	38					0	0	1	0	0
PPP1R14C	81706	broad.mit.edu	37	6	150464597	150464597	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr6:150464597G>A	ENST00000361131.4	+	1	386	c.269G>A	c.(268-270)tGg>tAg	p.W90*		NM_030949.2	NP_112211.1	Q8TAE6	PP14C_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 14C	90					regulation of phosphorylation	cytoplasm|membrane				endometrium(1)|large_intestine(1)|prostate(1)	3		Ovarian(120;0.0284)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;9.14e-12)		CTGGAGGAATGGATCGTGGAG	0.627000													7	13					0	0	1	0	0
SLC25A2	83884	broad.mit.edu	37	5	140683174	140683174	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr5:140683174A>G	ENST00000239451.4	-	1	438	c.259T>C	c.(259-261)Ttc>Ctc	p.F87L		NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	87					mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity			breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	TGCTGGCAGAACCCGTAGCAC	0.592000													191	43					0	0	1	0	0
PLK2	10769	broad.mit.edu	37	5	57750757	57750757	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr5:57750757A>T	ENST00000274289.3	-	13	2147	c.1847T>A	c.(1846-1848)tTt>tAt	p.F616Y	PLK2_ENST00000502671.1_Intron	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	616	POLO box 2.				positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		GCCATCATTAAAGAGCATCAT	0.428000													193	92					0	0	1	0	0
NOMO1	23420	broad.mit.edu	37	16	14958500	14958500	+	Missense_Mutation	SNP	C	C	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr16:14958500C>A	ENST00000287667.7	+	13	1625	c.1454C>A	c.(1453-1455)cCt>cAt	p.P485H		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	485						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						CAGACATTTCCTCTTACTGTG	0.498000													99	313					7.15876e-41	7.28206e-41	1	1	0
OR52K2	119774	broad.mit.edu	37	11	4471397	4471397	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:4471397C>T	ENST00000325719.4	+	1	873	c.828C>T	c.(826-828)atC>atT	p.I276I		NM_001005172.2	NP_001005172.2	Q8NGK3	O52K2_HUMAN	olfactory receptor, family 52, subfamily K, member 2	276					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGTCCACATCCTCCTTGCCA	0.498000													22	93					0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9364934	9364934	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr20:9364934G>A	ENST00000378501.2	+	11	955	c.940G>A	c.(940-942)Gaa>Aaa	p.E314K	PLCB4_ENST00000278655.4_Missense_Mutation_p.E314K|PLCB4_ENST00000334005.3_Missense_Mutation_p.E314K|PLCB4_ENST00000378473.3_Missense_Mutation_p.E314K|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000414679.2_Missense_Mutation_p.E314K|PLCB4_ENST00000378493.1_Missense_Mutation_p.E314K	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	314	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						ACTTTACCAAGAAATGGACCA	0.443000													30	138					0	0	1	0	0
TOP1	7150	broad.mit.edu	37	20	39750787	39750787	+	Silent	SNP	A	A	G			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr20:39750787A>G	ENST00000361337.2	+	20	2437	c.2187A>G	c.(2185-2187)acA>acG	p.T729T	RP1-1J6.2_ENST00000454626.1_RNA	NM_003286.2	NP_003277.1	P11387	TOP1_HUMAN	topoisomerase (DNA) I	729			T -> A (in CPT-resistant lung cancer).		DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)	CTAGGATCACAGTGGCTTGGT	0.507000			T	NUP98	AML*								81	74					0	0	1	0	0
IGHD	3495	broad.mit.edu	37	14	106307466	106307466	+	RNA	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr14:106307466G>A	ENST00000390556.2	-	0	571																											TGCCCACCACGAAGCAGGTGA	0.652000													19	11					0	0	1	0	0
HIP1	3092	broad.mit.edu	37	7	75203129	75203129	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr7:75203129C>T	ENST00000336926.6	-	8	708	c.682G>A	c.(682-684)Gtc>Atc	p.V228I	HIP1_ENST00000434438.2_Missense_Mutation_p.V228I	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	228					activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TCCAAGATGACCTGGATCAGC	0.537000			T	PDGFRB	CMML								42	49					0	0	1	0	0
TPD52L1	7164	broad.mit.edu	37	6	125583982	125583982	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr6:125583982G>A	ENST00000368388.2	+	5	576	c.389G>A	c.(388-390)cGa>cAa	p.R130Q	TPD52L1_ENST00000528193.1_3'UTR|TPD52L1_ENST00000392482.2_Missense_Mutation_p.R101Q|TPD52L1_ENST00000534199.1_Missense_Mutation_p.R101Q|TPD52L1_ENST00000534000.1_Silent_p.T163T|TPD52L1_ENST00000532429.1_Silent_p.T134T|TPD52L1_ENST00000530868.1_3'UTR|TPD52L1_ENST00000524679.1_Missense_Mutation_p.R101Q|TPD52L1_ENST00000304877.13_Silent_p.T168T|TPD52L1_ENST00000368402.5_Missense_Mutation_p.R143Q|TPD52L1_ENST00000527711.1_Silent_p.T150T	NM_001003397.1	NP_001003397.1	Q16890	TPD53_HUMAN	tumor protein D52-like 1	0					DNA fragmentation involved in apoptotic nuclear change|G2/M transition of mitotic cell cycle|induction of apoptosis|positive regulation of JNK cascade|positive regulation of MAP kinase activity	perinuclear region of cytoplasm	caspase activator activity|protein heterodimerization activity|protein homodimerization activity			endometrium(2)|large_intestine(2)|prostate(1)	5			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0265)		CATTTCAGACGAAAGTAGGCG	0.463000													6	41					0	0	1	0	0
ZNF679	168417	broad.mit.edu	37	7	63727047	63727047	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr7:63727047C>T	ENST00000421025.1	+	5	1305	c.1036C>T	c.(1036-1038)Cat>Tat	p.H346Y	ZNF679_ENST00000255746.4_Missense_Mutation_p.H346Y	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	346					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						TAAGATAATTCATACTGGAGA	0.398000													8	22					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25446407	25446407	+	RNA	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr15:25446407G>A	ENST00000424208.1	+	0	1982				SNHG14_ENST00000424333.1_RNA	NR_003305.1																						TTCCTGCACTGAGCTTGGTGA	0.587000													42	74					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179554074	179554074	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:179554074G>A	ENST00000589042.1	-	124	32178	c.31954C>T	c.(31954-31956)Cct>Tct	p.P10652S	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P10335S|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P9408S|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10335	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			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)			CTTTCTTCAGGAACTTTCTTC	0.373000													15	15					0	0	1	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290		TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458000	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			187	19					0	0	1	0	0
FGF23	8074	broad.mit.edu	37	12	4479668	4479668	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr12:4479668C>T	ENST00000237837.1	-	3	742	c.597G>A	c.(595-597)atG>atA	p.M199I		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	199					cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			GGGCCGGGGTCATCCGGGCCC	0.682000													9	22					0	0	1	0	0
ANLN	54443	broad.mit.edu	37	7	36465643	36465643	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr7:36465643C>T	ENST00000265748.2	+	19	2989	c.2768C>T	c.(2767-2769)tCa>tTa	p.S923L	ANLN_ENST00000396068.2_Missense_Mutation_p.S886L	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	923	Localization to the cleavage furrow.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						ATTCATTCTTCAGGTGAGTGT	0.269000													9	16					0	0	1	0	0
COL4A3	1285	broad.mit.edu	37	2	228147117	228147117	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:228147117G>A	ENST00000396578.3	+	32	2687	c.2525G>A	c.(2524-2526)gGa>gAa	p.G842E	AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	842	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GGAGACCCAGGAATTCCAGGC	0.443000													22	25					0	0	1	0	0
OR9I1	219954	broad.mit.edu	37	11	57886005	57886005	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:57886005G>A	ENST00000302610.1	-	1	911	c.912C>T	c.(910-912)gtC>gtT	p.V304V	OR9Q1_ENST00000335397.3_Intron	NM_001005211.1	NP_001005211.1	Q8NGQ6	OR9I1_HUMAN	olfactory receptor, family 9, subfamily I, member 1	304					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V304V(1)		endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23		Breast(21;0.0589)				GTCTCCTAGCGACCTTTCTGA	0.428000													22	79					0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91779784	91779784	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr14:91779784C>T	ENST00000389857.6	-	15	2462	c.2376G>A	c.(2374-2376)ctG>ctA	p.L792L		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	792					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				GCTCAGCCTCCAGCTCGCCCA	0.677000													13	12					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	41065497	41065497	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr5:41065497G>A	ENST00000399564.4	-	4	747	c.297C>T	c.(295-297)ttC>ttT	p.F99F		NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		CTAAGATCCTGAAGTTACTTT	0.438000													25	46					0	0	1	0	0
NOL6	65083	broad.mit.edu	37	9	33464972	33464972	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr9:33464972G>A	ENST00000379471.2	-	21	2771	c.2684C>T	c.(2683-2685)tCc>tTc	p.S895F	NOL6_ENST00000464829.1_Intron|NOL6_ENST00000455041.2_Missense_Mutation_p.S843F			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	895					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		AACCTGGGGGGAACTAAAGGG	0.512000													49	2					0	0	1	0	0
AGBL1	123624	broad.mit.edu	37	15	86697660	86697660	+	Splice_Site	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr15:86697660G>A	ENST00000441037.2	+	3	219		c.e3-1		AGBL1_ENST00000421325.2_Splice_Site	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1						C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			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						TGTGTTCTTAGATAAAAAGAT	0.438000													8	7					0	0	1	0	0
ANKRD49	54851	broad.mit.edu	37	11	94231318	94231318	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:94231318C>T	ENST00000544612.1	+	3	837	c.340C>T	c.(340-342)Cga>Tga	p.R114*	ANKRD49_ENST00000544253.1_3'UTR|ANKRD49_ENST00000302755.4_Nonsense_Mutation_p.R114*|ANKRD49_ENST00000538535.1_3'UTR	NM_017704.2	NP_060174.2	Q8WVL7	ANR49_HUMAN	ankyrin repeat domain 49	114					positive regulation of transcription, DNA-dependent					autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|urinary_tract(1)	12		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CCCTCTTCATCGAGCAGCCTA	0.502000													47	15					0	0	1	0	0
TAGAP	117289	broad.mit.edu	37	6	159462430	159462430	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr6:159462430C>T	ENST00000367066.3	-	6	764	c.433G>A	c.(433-435)Gat>Aat	p.D145N	RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA|TAGAP_ENST00000338313.5_Missense_Mutation_p.D145N|TAGAP_ENST00000326965.6_5'UTR|RP1-111C20.4_ENST00000606466.1_RNA	NM_054114.3	NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	145	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CTCTCCAGATCCACCGCATCC	0.552000													17	21					0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	70034817	70034817	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr6:70034817C>T	ENST00000370598.1	+	21	3689	c.2868C>T	c.(2866-2868)ttC>ttT	p.F956F	BAI3_ENST00000238918.8_Silent_p.F162F	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	956					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TGGCTTCATTCTGTTGGGTTT	0.433000													30	17					0	0	1	0	0
MCC	4163	broad.mit.edu	37	5	112440037	112440037	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr5:112440037A>C	ENST00000302475.4	-	5	1036	c.473T>G	c.(472-474)cTg>cGg	p.L158R	MCC_ENST00000408903.3_Missense_Mutation_p.L348R|MCC_ENST00000514701.3_5'UTR|MCC_ENST00000515367.2_Missense_Mutation_p.L95R	NM_002387.2	NP_002378.1	P23508	CRCM_HUMAN	mutated in colorectal cancers	158					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		TTCTGAGTTCAGGTCACTGCA	0.517000													269	39					0	0	1	0	0
CREB5	9586	broad.mit.edu	37	7	28857705	28857705	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr7:28857705G>A	ENST00000357727.2	+	10	1662	c.1272G>A	c.(1270-1272)ttG>ttA	p.L424L	CREB5_ENST00000396299.2_Silent_p.L391L|CREB5_ENST00000396300.2_Silent_p.L417L|CREB5_ENST00000396298.2_Silent_p.L285L|CREB5_ENST00000409603.1_Silent_p.L391L	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	424	Leucine-zipper.				positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						TGTCTATGTTGAAAAATGAGG	0.393000													39	37					0	0	1	0	0
LRRC3	81543	broad.mit.edu	37	21	45877282	45877282	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr21:45877282C>T	ENST00000291592.4	+	2	1072	c.755C>T	c.(754-756)cCc>cTc	p.P252L		NM_030891.3	NP_112153.1	Q9BY71	LRRC3_HUMAN	leucine rich repeat containing 3	252						integral to membrane	protein binding			endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5		Breast(209;0.00908)		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)		TCCAAGGACCCCATCGGCCCG	0.637000													26	39					0	0	1	0	0
BMP5	653	broad.mit.edu	37	6	55623867	55623867	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr6:55623867C>T	ENST00000370830.3	-	6	1849	c.1151G>A	c.(1150-1152)gGa>gAa	p.G384E	BMP5_ENST00000446683.2_Intron	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	384					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			AGAACATTCTCCATCACAATA	0.363000													35	62					0	0	1	0	0
MOBP	4336	broad.mit.edu	37	3	39543680	39543680	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:39543680G>A	ENST00000311042.6	+	3	269	c.120G>A	c.(118-120)gtG>gtA	p.V40V	MOBP_ENST00000383754.3_Silent_p.V40V|MOBP_ENST00000447324.1_Silent_p.V40V|MOBP_ENST00000396228.1_Silent_p.V40V|MOBP_ENST00000415443.1_Silent_p.V40V|MOBP_ENST00000354668.4_Silent_p.V40V|MOBP_ENST00000428261.1_Silent_p.V40V|MOBP_ENST00000420739.1_Silent_p.V40V|MOBP_ENST00000441980.2_Silent_p.V40V	NM_001278322.1	NP_001265251.1	Q13875	MOBP_HUMAN	myelin-associated oligodendrocyte basic protein	40					nervous system development	nucleolus|perinuclear region of cytoplasm|soluble fraction				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	6				KIRC - Kidney renal clear cell carcinoma(284;0.082)|Kidney(284;0.0998)		AGGAGATAGTGGATCGGAAAT	0.542000													17	42					0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47406756	47406756	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr18:47406756G>A	ENST00000285039.7	-	23	3414	c.3115C>T	c.(3115-3117)Ctg>Ttg	p.L1039L	MYO5B_ENST00000324581.6_Silent_p.L180L	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1039					protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GACTGGCACAGGATTTGGTTG	0.433000													21	209					0	0	1	0	0
NDRG3	57446	broad.mit.edu	37	20	35317155	35317155	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr20:35317155G>A	ENST00000373803.2	-	4	182	c.126C>T	c.(124-126)gtC>gtT	p.V42V	NDRG3_ENST00000349004.1_Silent_p.V42V|NDRG3_ENST00000373773.3_Intron|NDRG3_ENST00000359675.2_Silent_p.V30V|NDRG3_ENST00000540765.1_Intron			Q9UGV2	NDRG3_HUMAN	NDRG family member 3	42					cell differentiation|negative regulation of cell growth|spermatogenesis	cytoplasm				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Myeloproliferative disorder(115;0.00878)				TAGTGACGTGGACCACACCAT	0.388000													52	77					0	0	1	0	0
ATF4	468	broad.mit.edu	37	22	39917506	39917506	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr22:39917506C>T	ENST00000337304.2	+	1	938	c.56C>T	c.(55-57)cCc>cTc	p.P19L	ATF4_ENST00000396680.1_Missense_Mutation_p.P19L|ATF4_ENST00000404241.2_Missense_Mutation_p.P19L	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN	activating transcription factor 4	19					cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter	cytoplasm|plasma membrane	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)					TTGATGTCCCCCTTCGACCAG	0.537000													40	29					0	0	1	0	0
KLHL32	114792	broad.mit.edu	37	6	97587155	97587155	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr6:97587155C>T	ENST00000369261.4	+	11	2223	c.1860C>T	c.(1858-1860)atC>atT	p.I620I	KLHL32_ENST00000539200.1_Silent_p.I551I|KLHL32_ENST00000544166.1_Silent_p.I176I|KLHL32_ENST00000536676.1_Silent_p.I584I	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	620										breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		TTGGCACCATCTGAAAAGCCA	0.453000													13	37					0	0	1	0	0
NDRG4	65009	broad.mit.edu	37	16	58537758	58537758	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr16:58537758C>T	ENST00000394282.4	+	4	641	c.234C>T	c.(232-234)ccC>ccT	p.P78P	NDRG4_ENST00000563022.1_3'UTR|NDRG4_ENST00000566192.1_Silent_p.P26P|NDRG4_ENST00000569923.1_5'UTR|NDRG4_ENST00000562999.1_Silent_p.P26P|NDRG4_ENST00000394279.2_Silent_p.P58P|NDRG4_ENST00000568640.1_Silent_p.P44P|NDRG4_ENST00000570248.1_Silent_p.P26P|NDRG4_ENST00000258187.5_Silent_p.P58P|NDRG4_ENST00000356752.4_Silent_p.P56P|NDRG4_ENST00000563799.1_Silent_p.P26P	NM_001130487.1	NP_001123959.1	Q9ULP0	NDRG4_HUMAN	NDRG family member 4	26					cell differentiation|cell growth|multicellular organismal development|response to stress	cytoplasm				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						GGGGCTCCCCCAAGGGGAACC	0.622000													18	37					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131848633	131848633	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr8:131848633G>A	ENST00000286355.5	-	12	4657	c.2565C>T	c.(2563-2565)tcC>tcT	p.S855S	ADCY8_ENST00000377928.3_Silent_p.S724S	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	855					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GCTTCAGGACGGAGTTCAGCC	0.537000										HNSCC(32;0.087)			44	95					0	0	1	0	0
OR10AG1	282770	broad.mit.edu	37	11	55735475	55735475	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:55735475G>A	ENST00000312345.2	-	1	515	c.465C>T	c.(463-465)ttC>ttT	p.F155F		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	155					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					AGGGCAAAAGGAAAATTTGGC	0.388000													6	34					0	0	1	0	0
POTEH	23784	broad.mit.edu	37	22	16279277	16279277	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr22:16279277C>T	ENST00000343518.6	-	4	997	c.946G>A	c.(946-948)Ggt>Agt	p.G316S		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	316										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TCATGTACACCAAGTAACAGT	0.318000													43	202					0	0	1	0	0
MESDC2	23184	broad.mit.edu	37	15	81271602	81271602	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr15:81271602G>A	ENST00000261758.4	-	3	749	c.663C>T	c.(661-663)tcC>tcT	p.S221S		NM_015154.1	NP_055969.1	Q14696	MESD_HUMAN	mesoderm development candidate 2	221					mesoderm development|protein folding|Wnt receptor signaling pathway	endoplasmic reticulum				cervix(1)|large_intestine(5)|ovary(1)|urinary_tract(1)	8						TTTCTTCCTTGGAAGACCGAG	0.498000													24	49					0	0	1	0	0
NOMO1	23420	broad.mit.edu	37	16	14958499	14958499	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr16:14958499C>T	ENST00000287667.7	+	13	1624	c.1453C>T	c.(1453-1455)Cct>Tct	p.P485S		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	485						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						CCAGACATTTCCTCTTACTGT	0.502000													96	311					0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23874314	23874314	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr14:23874314G>A	ENST00000405093.3	-	6	595	c.525C>T	c.(523-525)ctC>ctT	p.L175L	MYH6_ENST00000356287.3_Silent_p.L175L	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	175	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CTCACGTGATGAGGATGGACT	0.577000													6	21					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216496835	216496835	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:216496835C>T	ENST00000366943.2	-	8	1917	c.1531G>A	c.(1531-1533)Gaa>Aaa	p.E511K	USH2A_ENST00000307340.3_Missense_Mutation_p.E511K|USH2A_ENST00000366942.3_Missense_Mutation_p.E511K			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	511	Laminin N-terminal.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATGGTGATTTCGTCCACTGCA	0.378000										HNSCC(13;0.011)			115	6					0	0	1	0	0
VIL1	7429	broad.mit.edu	37	2	219294122	219294122	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:219294122C>T	ENST00000248444.5	+	7	770	c.682C>T	c.(682-684)Cac>Tac	p.H228Y	VIL1_ENST00000440053.1_Missense_Mutation_p.H228Y|VIL1_ENST00000392114.2_Intron	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	228	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGTGATGAACCACGTGCTGGG	0.632000													27	56					0	0	1	0	0
TRBV27	28560	broad.mit.edu	37	7	142423259	142423259	+	RNA	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr7:142423259G>A	ENST00000506718.1	+	0	401				TRBV27_ENST00000390399.3_RNA																							TGCCTTCTAGGAGCAGGTGAG	0.537000													19	19					0	0	1	0	0
SKA1	220134	broad.mit.edu	37	18	47918528	47918528	+	Nonsense_Mutation	SNP	A	A	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr18:47918528A>T	ENST00000285116.3	+	7	890	c.679A>T	c.(679-681)Aag>Tag	p.K227*	SKA1_ENST00000398452.2_Nonsense_Mutation_p.K227*|SKA1_ENST00000417656.2_Nonsense_Mutation_p.K181*|SKA1_ENST00000488454.1_Nonsense_Mutation_p.K76*	NM_001039535.2|NM_145060.3	NP_001034624.1|NP_659497.1	Q96BD8	SKA1_HUMAN	spindle and kinetochore associated complex subunit 1	227					cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytosol|spindle microtubule	microtubule binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(1)|prostate(1)	13						AGCTGACAAGAAGTTTCACGT	0.393000													14	70					0	0	1	0	0
OBSL1	23363	broad.mit.edu	37	2	220423149	220423149	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:220423149G>A	ENST00000404537.1	-	10	3315	c.3259C>T	c.(3259-3261)Cgc>Tgc	p.R1087C	OBSL1_ENST00000603926.1_Missense_Mutation_p.R1087C|OBSL1_ENST00000265318.4_Intron|OBSL1_ENST00000373876.1_Missense_Mutation_p.R1087C|OBSL1_ENST00000265317.5_Missense_Mutation_p.R78C	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1087	Ig-like 9.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		TCCAGGGAGCGGGCTGCCGGG	0.677000													6	5					0	0	1	0	0
FSHB	2488	broad.mit.edu	37	11	30253528	30253528	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:30253528A>T	ENST00000417547.1	+	2	118	c.79A>T	c.(79-81)Acc>Tcc	p.T27S	FSHB_ENST00000533718.1_Missense_Mutation_p.T27S|FSHB_ENST00000254122.3_Missense_Mutation_p.T27S	NM_001018080.1	NP_001018090.1	P01225	FSHB_HUMAN	follicle stimulating hormone, beta polypeptide	27					cellular nitrogen compound metabolic process|female gamete generation|female pregnancy|ovarian follicle development|peptide hormone processing|progesterone biosynthetic process|spermatogenesis|transforming growth factor beta receptor signaling pathway	cytoplasm|extracellular region|soluble fraction	follicle-stimulating hormone activity|protein heterodimerization activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	12					Follitropin beta(DB00066)|Thyrotropin Alfa(DB00024)|Urofollitropin(DB00094)	GACCAACATCACCATTGCAAT	0.453000													32	17					0	0	1	0	0
ZNF558	148156	broad.mit.edu	37	19	8922501	8922501	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr19:8922501G>A	ENST00000601372.1	-	10	1376	c.665C>T	c.(664-666)tCc>tTc	p.S222F	ZNF558_ENST00000444186.2_Missense_Mutation_p.S151F|ZNF558_ENST00000301475.1_Missense_Mutation_p.S222F			Q96NG5	ZN558_HUMAN	zinc finger protein 558	222					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.S222F(1)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						CAGTCTAAGGGATGAGGGATC	0.408000													16	19					0	0	1	0	0
PPL	5493	broad.mit.edu	37	16	4944542	4944542	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr16:4944542C>T	ENST00000345988.2	-	12	1409	c.1320G>A	c.(1318-1320)ggG>ggA	p.G440G	PPL_ENST00000590782.2_Silent_p.G438G	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN	periplakin	440					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TCAGCTTGTTCCCAGCGCTGT	0.637000													36	49					0	0	1	0	0
ZNF493	284443	broad.mit.edu	37	19	21606504	21606504	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr19:21606504C>T	ENST00000392288.2	+	4	1152	c.1043C>T	c.(1042-1044)tCc>tTc	p.S348F	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Missense_Mutation_p.S220F	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	220					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						GAAGAGAAATCCCACAGATGT	0.353000													18	29					0	0	1	0	0
GPRASP2	114928	broad.mit.edu	37	X	101972234	101972234	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chrX:101972234C>T	ENST00000543253.1	+	5	3356	c.2437C>T	c.(2437-2439)Cgt>Tgt	p.R813C	GPRASP2_ENST00000332262.5_Missense_Mutation_p.R813C|GPRASP2_ENST00000535209.1_Missense_Mutation_p.R813C	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1			G protein-coupled receptor associated sorting protein 2											breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						TTCTGCATTTCGTGAATTTGA	0.358000													78	10					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51910917	51910917	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr6:51910917G>A	ENST00000371117.3	-	24	2752	c.2477C>T	c.(2476-2478)tCc>tTc	p.S826F	PKHD1_ENST00000340994.4_Missense_Mutation_p.S826F	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	826					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GAGGTACCTGGATGTGAAGTC	0.458000													49	81					0	0	1	0	0
VWA3B	200403	broad.mit.edu	37	2	98709700	98709700	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:98709700A>G	ENST00000477737.1	+	2	349	c.145A>G	c.(145-147)Aaa>Gaa	p.K49E	VWA3B_ENST00000451075.2_5'UTR|VWA3B_ENST00000435344.1_Missense_Mutation_p.K49E	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	49										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TAAGAGCAACAAATTGACCTT	0.448000													23	47					0	0	1	0	0
SEMA3D	223117	broad.mit.edu	37	7	84666268	84666268	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr7:84666268C>T	ENST00000284136.6	-	10	1171	c.1128G>A	c.(1126-1128)aaG>aaA	p.K376K	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	376	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						CTGCACTTTCCTTATGAGCAT	0.398000													45	47					0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56203083	56203083	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr18:56203083C>T	ENST00000361673.3	-	5	4549	c.4336G>A	c.(4336-4338)Gaa>Aaa	p.E1446K	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1446							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						GGCTGGATTTCCGCTTCGTGG	0.527000													51	21					0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32053982	32053982	+	Silent	SNP	T	T	G			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr5:32053982T>G	ENST00000438447.1	+	10	2281	c.1893T>G	c.(1891-1893)ctT>ctG	p.L631L	PDZD2_ENST00000282493.3_Silent_p.L631L			O15018	PDZD2_HUMAN	PDZ domain containing 2	631	PDZ 3.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						ACGGAAGACTTAAAGAAGGTA	0.473000													63	26					0	0	1	0	0
PROM2	150696	broad.mit.edu	37	2	95941847	95941847	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:95941847T>C	ENST00000317620.9	+	3	597	c.464T>C	c.(463-465)aTg>aCg	p.M155T	PROM2_ENST00000403131.2_Missense_Mutation_p.M155T|PROM2_ENST00000463580.1_Intron|PROM2_ENST00000542147.1_Missense_Mutation_p.M155T|PROM2_ENST00000317668.4_Missense_Mutation_p.M155T	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	155						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						GCGGCCCTCATGGTCTTCCTG	0.692000													21	26					0	0	1	0	0
CRISP2	7180	broad.mit.edu	37	6	49666088	49666088	+	Missense_Mutation	SNP	C	C	T	rs141421430		TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr6:49666088C>T	ENST00000339139.4	-	7	640	c.404G>A	c.(403-405)gGa>gAa	p.G135E		NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3	NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1	P16562	CRIS2_HUMAN	cysteine-rich secretory protein 2	135						extracellular space				kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			AGTATAATGTCCAACAACTGC	0.398000													18	25					0	0	1	0	0
C1orf106	55765	broad.mit.edu	37	1	200877985	200877985	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:200877985C>T	ENST00000367342.4	+	7	1157	c.957C>T	c.(955-957)gtC>gtT	p.V319V	C1orf106_ENST00000413687.2_Silent_p.V234V	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	319	Pro-rich.									endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						GGGCTCCAGTCCAGAACAGCC	0.627000													124	9					0	0	1	0	0
RRP36	88745	broad.mit.edu	37	6	42992842	42992842	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr6:42992842C>T	ENST00000244496.5	+	2	260	c.250C>T	c.(250-252)Caa>Taa	p.Q84*		NM_033112.2	NP_149103.1	Q96EU6	RRP36_HUMAN	ribosomal RNA processing 36 homolog (S. cerevisiae)	84					ribosomal small subunit biogenesis|rRNA processing	nucleolus				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						ACCACCTATCCAAAATGCATG	0.453000													21	40					0	0	1	0	0
ERN1	2081	broad.mit.edu	37	17	62132152	62132152	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr17:62132152G>A	ENST00000433197.2	-	14	1804	c.1709C>T	c.(1708-1710)tCc>tTc	p.S570F		NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN	endoplasmic reticulum to nucleus signaling 1	570					activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						GGGACAGAAGGAAATTTTCCC	0.488000													10	0					0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48390604	48390604	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr10:48390604C>T	ENST00000224600.4	-	1	387	c.274G>A	c.(274-276)Gag>Aag	p.E92K		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	92	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GTGCTGGGCTCATAGGAGATG	0.627000													49	11					0	0	1	0	0
FOXJ1	2302	broad.mit.edu	37	17	74136212	74136212	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr17:74136212C>T	ENST00000322957.6	-	2	619	c.265G>A	c.(265-267)Ggc>Agc	p.G89S		NM_001454.3	NP_001445.2	Q92949	FOXJ1_HUMAN	forkhead box J1	89					actin cytoskeleton organization|activation of Rho GTPase activity|central tolerance induction|cilium assembly|epithelial cell differentiation|establishment of apical/basal cell polarity|heart looping|humoral immune response|left/right pattern formation|leukocyte migration|lung development|negative regulation of B cell activation|negative regulation of germinal center formation|negative regulation of humoral immune response mediated by circulating immunoglobulin|negative regulation of interleukin-6 biosynthetic process|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell differentiation in thymus|negative regulation of T cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of central B cell tolerance induction|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific 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			large_intestine(1)|liver(1)|pancreas(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(166;0.187)			GTGGGCTTGCCCGGCGTGTGT	0.766000													13	1					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183675628	183675628	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr4:183675628G>A	ENST00000511685.1	+	22	4231	c.4108G>A	c.(4108-4110)Gaa>Aaa	p.E1370K	TENM3_ENST00000406950.2_Missense_Mutation_p.E1370K|TENM3_ENST00000502950.1_3'UTR					teneurin transmembrane protein 3																		ACAGATCACTGAAAATCGTCA	0.473000													12	13					0	0	1	0	0
EPHB2	2048	broad.mit.edu	37	1	23189627	23189627	+	Silent	SNP	T	T	C			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:23189627T>C	ENST00000400191.3	+	4	927	c.909T>C	c.(907-909)tgT>tgC	p.C303C	EPHB2_ENST00000374632.3_Silent_p.C303C|EPHB2_ENST00000465676.1_3'UTR|EPHB2_ENST00000544305.1_Silent_p.C303C|EPHB2_ENST00000374630.3_Silent_p.C303C|EPHB2_ENST00000374627.1_Silent_p.C297C	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	303	Cys-rich.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			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)		CCACCAACTGTGTCTGCCGCA	0.602000													9	98					0	0	1	0	0
ESYT3	83850	broad.mit.edu	37	3	138178089	138178089	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:138178089G>A	ENST00000389567.4	+	5	828	c.642G>A	c.(640-642)ggG>ggA	p.G214G	ESYT3_ENST00000289135.4_Silent_p.G214G	NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	214						integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						GTGTGAACGGGATCCAGGTGG	0.622000													72	28					0	0	1	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72137929	72137929	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr14:72137929C>T	ENST00000555818.1	+	8	2697	c.2349C>T	c.(2347-2349)ttC>ttT	p.F783F	SIPA1L1_ENST00000381232.3_Silent_p.F783F|SIPA1L1_ENST00000537413.1_Silent_p.F258F|SIPA1L1_ENST00000358550.2_Silent_p.F783F	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	783	Rap-GAP.				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TCAGGGACTTCCTTTTGGCGA	0.498000													39	84					0	0	1	0	0
CCDC157	550631	broad.mit.edu	37	22	30762176	30762176	+	Missense_Mutation	SNP	C	C	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr22:30762176C>A	ENST00000405659.1	+	3	896	c.187C>A	c.(187-189)Ccg>Acg	p.P63T	CCDC157_ENST00000399824.2_Missense_Mutation_p.P63T|CCDC157_ENST00000338306.3_Missense_Mutation_p.P63T			Q569K6	CC157_HUMAN	coiled-coil domain containing 157	63										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						TGACCATGTTCCGGGTGACCC	0.642000													24	137					9.90819e-18	9.99279e-18	1	1	0
NRG3	10718	broad.mit.edu	37	10	84745020	84745020	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr10:84745020G>A	ENST00000372142.2	+	11	1433	c.1159G>A	c.(1159-1161)Gaa>Aaa	p.E387K	NRG3_ENST00000404547.1_Missense_Mutation_p.E608K|NRG3_ENST00000404576.2_Missense_Mutation_p.E388K|NRG3_ENST00000372141.2_Missense_Mutation_p.E584K|NRG3_ENST00000537893.1_Missense_Mutation_p.E234K|NRG3_ENST00000545131.1_Missense_Mutation_p.E234K|NRG3_ENST00000556918.1_Missense_Mutation_p.E414K	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN	neuregulin 3	608					regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	p.E584*(1)|p.E387*(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		GGGTTTAGAGGAAACCTGCCT	0.463000													51	9					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38770043	38770043	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:38770043C>T	ENST00000449082.2	-	15	2629	c.2630G>A	c.(2629-2631)gGg>gAg	p.G877E		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	877					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CACCAGGTTCCCTAGCACCAT	0.498000													9	32					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155156047	155156047	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr4:155156047C>T	ENST00000357232.3	-	25	8391	c.8392G>A	c.(8392-8394)Gat>Aat	p.D2798N		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2798					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TTTGCAATATCATTAAATACT	0.393000													67	66					0	0	1	0	0
BCL11A	53335	broad.mit.edu	37	2	60687925	60687925	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:60687925C>T	ENST00000335712.6	-	4	2349	c.2122G>A	c.(2122-2124)Gga>Aga	p.G708R	BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000358510.4_Missense_Mutation_p.G674R|BCL11A_ENST00000537768.1_Missense_Mutation_p.G377R|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000538214.1_Missense_Mutation_p.G674R|BCL11A_ENST00000356842.4_Missense_Mutation_p.G708R	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	708					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			GAGATCCCTCCGTCCAGCTCC	0.657000			T	IGH@	B-CLL								54	43					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76450739	76450739	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr17:76450739C>T	ENST00000389840.5	-	64	10301	c.10177G>A	c.(10177-10179)Gat>Aat	p.D3393N	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Missense_Mutation_p.D3402N					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TCCGCGTCATCTGTCAGCAGG	0.612000													42	7					0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75843694	75843694	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr6:75843694C>T	ENST00000322507.8	-	33	5853	c.5544G>A	c.(5542-5544)agG>agA	p.R1848R	COL12A1_ENST00000345356.6_Silent_p.R684R|COL12A1_ENST00000416123.2_Silent_p.R1848R|COL12A1_ENST00000483888.2_Silent_p.R1848R	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1848	Fibronectin type-III 14.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			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						CTCTCAGGTTCCTTACAGTGT	0.458000													3	11					0	0	1	0	0
UIMC1	51720	broad.mit.edu	37	5	176332394	176332394	+	Silent	SNP	A	A	C			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr5:176332394A>C	ENST00000377219.2	-	15	2218	c.2052T>G	c.(2050-2052)gtT>gtG	p.V684V	UIMC1_ENST00000511320.1_Silent_p.V683V|UIMC1_ENST00000377227.4_Silent_p.V683V|UIMC1_ENST00000506128.1_Silent_p.V517V	NM_016290.4	NP_057374.3	Q96RL1	UIMC1_HUMAN	ubiquitin interaction motif containing 1	683					double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent	BRCA1-A complex	histone binding|K63-linked polyubiquitin binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	21	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGAAATGGAAACAAAAGACT	0.493000													41	67					0	0	1	0	0
MTR	4548	broad.mit.edu	37	1	236979789	236979789	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:236979789C>T	ENST00000366577.5	+	8	1104	c.710C>T	c.(709-711)tCc>tTc	p.S237F	MTR_ENST00000418145.2_3'UTR|MTR_ENST00000535889.1_Missense_Mutation_p.S237F	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	237	Hcy-binding.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	CGGACTCTTTCCGGACAGACA	0.408000													98	4					0	0	1	0	0
CTD-2066L21.3	0	broad.mit.edu	37	5	33162811	33162811	+	RNA	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr5:33162811C>T	ENST00000510327.1	-	0	346																											TTGCATGCATCGCTTCAAGGC	0.468000													7	12					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124399018	124399018	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr12:124399018G>A	ENST00000409039.3	+	60	10166	c.10141G>A	c.(10141-10143)Gac>Aac	p.D3381N		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3381					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TTGGCAAAATGACATCCTGGA	0.602000													6	31					0	0	1	0	0
SMARCC2	6601	broad.mit.edu	37	12	56563690	56563690	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr12:56563690G>A	ENST00000394023.3	-	24	2523	c.2418C>T	c.(2416-2418)ccC>ccT	p.P806P	RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000267064.4_Silent_p.P775P|SMARCC2_ENST00000550164.1_Silent_p.P806P|SMARCC2_ENST00000347471.4_Silent_p.P806P	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	775	Glu-rich.				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			CTCCTTCTCGGGGTTCCTGAA	0.488000													11	20					0	0	1	0	0
PRKCG	5582	broad.mit.edu	37	19	54385799	54385799	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr19:54385799C>T	ENST00000263431.3	+	1	333	c.51C>T	c.(49-51)ccC>ccT	p.P17P	PRKCG_ENST00000536044.1_Silent_p.P17P|PRKCG_ENST00000540413.1_Silent_p.P17P	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	17					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			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)		GACCCCGGCCCCTGTTTTGCA	0.627000													66	68					0	0	1	0	0
SAG	6295	broad.mit.edu	37	2	234249108	234249108	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:234249108G>A	ENST00000409110.1	+	13	1260	c.1030G>A	c.(1030-1032)Gga>Aga	p.G344R	SAG_ENST00000449594.2_Missense_Mutation_p.G210R	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN	S-antigen; retina and pineal gland (arrestin)	344					rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway		protein phosphatase inhibitor activity			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		TAGCTTTCTGGGAGAGCTCAC	0.478000													6	7					0	0	1	0	0
ALOX12B	242	broad.mit.edu	37	17	7983597	7983597	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr17:7983597T>A	ENST00000319144.4	-	6	970	c.710A>T	c.(709-711)aAg>aTg	p.K237M	AC129492.6_ENST00000399413.3_Missense_Mutation_p.L93H	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	237	Lipoxygenase.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						CCTAATGTCCTTCAGCCTCTT	0.582000										Multiple Myeloma(8;0.094)	OREG0024153	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	89	8					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179426452	179426452	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:179426452C>T	ENST00000589042.1	-	326	84631	c.84407G>A	c.(84406-84408)gGa>gAa	p.G28136E	TTN_ENST00000342175.6_Missense_Mutation_p.G19263E|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G26495E|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G19071E|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G25568E|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G19196E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	26495	Fibronectin type-III 105.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			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)			GGAGCTCTTTCCATAGCGGTT	0.448000													16	14					0	0	1	0	0
GBP6	163351	broad.mit.edu	37	1	89851007	89851007	+	Silent	SNP	A	A	G			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:89851007A>G	ENST00000370456.4	+	11	1974	c.1881A>G	c.(1879-1881)aaA>aaG	p.K627K	GBP6_ENST00000535065.1_Silent_p.K497K	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	627							GTP binding|GTPase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		CACTCTTTAAAAAGCATAAGC	0.358000													73	7					0	0	1	0	0
C1orf94	84970	broad.mit.edu	37	1	34666392	34666392	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:34666392G>A	ENST00000488417.1	+	3	1149	c.1029G>A	c.(1027-1029)aaG>aaA	p.K343K	C1orf94_ENST00000373374.3_Silent_p.K153K	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	153							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				CTGGCACCAAGGAGCCAAAAA	0.562000													93	6					0	0	1	0	0
SFTPB	6439	broad.mit.edu	37	2	85892791	85892791	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:85892791C>T	ENST00000393822.3	-	6	655	c.556G>A	c.(556-558)Gac>Aac	p.D186N	SFTPB_ENST00000409383.1_Missense_Mutation_p.D186N|SFTPB_ENST00000342375.3_Missense_Mutation_p.D174N|SFTPB_ENST00000519937.2_Missense_Mutation_p.D174N			P07988	PSPB_HUMAN	surfactant protein B	174					organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process	extracellular space|lysosome				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)	16						ACGAGCTTGTCCAGCAGAGGG	0.672000													54	77					0	0	1	0	0
WWC3	55841	broad.mit.edu	37	X	10058885	10058885	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chrX:10058885G>A	ENST00000380861.4	+	6	843	c.452G>A	c.(451-453)cGg>cAg	p.R151Q	WWC3_ENST00000454666.1_Missense_Mutation_p.R151Q	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	151										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						AGTGAGCTCCGGACCATCAAG	0.458000													20	3					0	0	1	0	0
TMEM68	137695	broad.mit.edu	37	8	56668963	56668963	+	Translation_Start_Site	SNP	T	T	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr8:56668963T>A	ENST00000519784.1	-	0	136				TMEM68_ENST00000334667.2_Missense_Mutation_p.E111D|TMEM68_ENST00000434581.2_Missense_Mutation_p.E111D|TMEM68_ENST00000523073.1_De_novo_Start_OutOfFrame			Q96MH6	TMM68_HUMAN	transmembrane protein 68							integral to membrane	acyltransferase activity			NS(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6			Epithelial(17;0.000361)|all cancers(17;0.00326)			TTCCATGAACTTCATAACCTG	0.299000													14	30					0	0	1	0	0
SUCNR1	56670	broad.mit.edu	37	3	151599307	151599307	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:151599307G>A	ENST00000362032.4	+	3	1081	c.976G>A	c.(976-978)Gaa>Aaa	p.E326K	RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA	NM_033050.4	NP_149039.2	Q9BXA5	SUCR1_HUMAN	succinate receptor 1	326						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		Succinic acid(DB00139)	ATGGGCTCATGAACTCCTACT	0.403000													20	61					0	0	1	0	0
AC010731.4	0	broad.mit.edu	37	2	207509337	207509337	+	RNA	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:207509337C>T	ENST00000543490.1	+	0	552																											GAGAAAATCTCAGCAGCGCAG	0.488000													7	6					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21330947	21330947	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr18:21330947G>A	ENST00000313654.9	+	5	991	c.750G>A	c.(748-750)agG>agA	p.R250R	LAMA3_ENST00000399516.3_Silent_p.R250R	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	250	Laminin N-terminal.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACACCCTGAGGGAGTTTACCA	0.458000													12	89					0	0	1	0	0
EPB41L3	23136	broad.mit.edu	37	18	5433988	5433988	+	Silent	SNP	C	C	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr18:5433988C>A	ENST00000341928.2	-	7	1078	c.738G>T	c.(736-738)ggG>ggT	p.G246G	EPB41L3_ENST00000544123.1_Silent_p.G246G|EPB41L3_ENST00000540638.2_Silent_p.G246G|EPB41L3_ENST00000400111.3_Silent_p.G246G|EPB41L3_ENST00000342933.3_Silent_p.G246G|EPB41L3_ENST00000542652.2_5'UTR	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	246	FERM.				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TGTAATCGCTCCCACATTCAT	0.522000													138	49					1.55268e-80	1.58283e-80	1	1	0
CDHR3	222256	broad.mit.edu	37	7	105662801	105662801	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr7:105662801G>A	ENST00000542731.1	+	14	2091	c.1983G>A	c.(1981-1983)agG>agA	p.R661R	CDHR3_ENST00000343407.5_Intron|CDHR3_ENST00000317716.9_Silent_p.R661R|CDHR3_ENST00000478080.1_Silent_p.R573R|CDHR3_ENST00000470188.1_Intron			Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	661	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						TGTCTGACAGGAAGAAAGCGG	0.478000													85	85					0	0	1	0	0
ACSM1	116285	broad.mit.edu	37	16	20651903	20651903	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr16:20651903G>A	ENST00000307493.4	-	7	1063	c.996C>T	c.(994-996)atC>atT	p.I332I	ACSM1_ENST00000520010.1_Silent_p.I332I|ACSM1_ENST00000219151.4_5'UTR	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	332					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						CAGGGAACCTGATGCTTAGAG	0.552000													32	31					0	0	1	0	0
FBLN7	129804	broad.mit.edu	37	2	112944963	112944963	+	Splice_Site	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:112944963G>A	ENST00000409903.1	+	8	1177		c.e8-1		FBLN7_ENST00000331203.2_Silent_p.Q400Q|FBLN7_ENST00000409450.3_Silent_p.Q354Q|FBLN7_ENST00000409667.3_Silent_p.Q266Q			Q53RD9	FBLN7_HUMAN	fibulin 7						cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						TCCTTGTGCAGAACCTGGAGG	0.612000													35	41					0	0	1	0	0
CATSPERB	79820	broad.mit.edu	37	14	92088231	92088231	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr14:92088231G>A	ENST00000256343.3	-	19	2137	c.1981C>T	c.(1981-1983)Ccc>Tcc	p.P661S		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	661					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				CTGTACCCGGGAAGCACTACA	0.398000													17	13					0	0	1	0	0
MYRIP	25924	broad.mit.edu	37	3	40251444	40251444	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:40251444G>A	ENST00000302541.6	+	11	2107	c.1765G>A	c.(1765-1767)Gag>Aag	p.E589K	MYRIP_ENST00000396217.3_Missense_Mutation_p.E500K|MYRIP_ENST00000425621.1_Missense_Mutation_p.E589K|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000444716.1_Missense_Mutation_p.E589K|MYRIP_ENST00000539167.1_Missense_Mutation_p.E402K	NM_015460.2	NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	589	Actin-binding.				intracellular protein transport		actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		CAGGCTGTACGAGTTAGCAAT	0.493000													47	22					0	0	1	0	0
ADRA1A	148	broad.mit.edu	37	8	26628171	26628171	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr8:26628171G>A	ENST00000380573.3	-	3	1919	c.896C>T	c.(895-897)cCt>cTt	p.P299L	ADRA1A_ENST00000380586.1_Missense_Mutation_p.P299L|ADRA1A_ENST00000380587.1_Intron|ADRA1A_ENST00000276393.4_Missense_Mutation_p.P299L|ADRA1A_ENST00000380582.3_Missense_Mutation_p.P299L|ADRA1A_ENST00000380581.2_Intron|ADRA1A_ENST00000519229.1_Missense_Mutation_p.P299L|ADRA1A_ENST00000354550.4_Missense_Mutation_p.P299L			P35348	ADA1A_HUMAN	adrenoceptor alpha 1A	299					activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	CTTGAAATCAGGGAAGAAAGA	0.393000													28	51					0	0	1	0	0
VWCE	220001	broad.mit.edu	37	11	61026240	61026240	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:61026240G>A	ENST00000335613.5	-	20	3161	c.2775C>T	c.(2773-2775)acC>acT	p.T925T	VWCE_ENST00000535710.1_Silent_p.T390T	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	925						extracellular region	calcium ion binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						AGAGTCTAGAGGTGGTGGGAG	0.652000													80	34					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158617379	158617379	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:158617379C>T	ENST00000368148.3	-	27	4026	c.3846G>A	c.(3844-3846)aaG>aaA	p.K1282K	SPTA1_ENST00000368147.3_Silent_p.K1282K	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1282					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			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)					TTAGGCTCTCCTTACGATCCT	0.537000													116	5					0	0	1	0	0
GRIN1	2902	broad.mit.edu	37	9	140058420	140058420	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr9:140058420T>C	ENST00000350902.5	+	18	2730	c.2653T>C	c.(2653-2655)Tcc>Ccc	p.S885P	GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000371559.4_Intron|GRIN1_ENST00000371555.4_Intron|GRIN1_ENST00000371560.3_Intron|GRIN1_ENST00000371550.4_Intron|GRIN1_ENST00000315048.3_Intron|GRIN1_ENST00000371553.3_Intron|GRIN1_ENST00000371546.4_Intron|GRIN1_ENST00000371561.3_Intron			Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	0					ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	CCCTCCTCCATCCCCGAAGGC	0.706000													3	29					0	0	1	0	0
CCDC37	348807	broad.mit.edu	37	3	126142424	126142424	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:126142424G>A	ENST00000393425.1	+	13	1325	c.1226G>A	c.(1225-1227)aGc>aAc	p.S409N	CCDC37_ENST00000352312.1_Missense_Mutation_p.S408N|CCDC37_ENST00000505024.1_Missense_Mutation_p.S409N			Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	408										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		ATCCAGAACAGCCAGGAGACG	0.612000													11	52					0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77455013	77455013	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr9:77455013C>T	ENST00000451710.3	-	5	708	c.471G>A	c.(469-471)gaG>gaA	p.E157E	TRPM6_ENST00000449912.2_Silent_p.E152E|TRPM6_ENST00000376864.4_Silent_p.E157E|TRPM6_ENST00000360774.1_Silent_p.E157E|TRPM6_ENST00000376871.3_Silent_p.E157E|TRPM6_ENST00000376872.3_Silent_p.E157E|TRPM6_ENST00000361255.3_Silent_p.E152E|TRPM6_ENST00000359047.2_Silent_p.E157E			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	157					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GGCTGAAAATCTCTTTAAATT	0.433000													58	10					0	0	1	0	0
NYAP2	57624	broad.mit.edu	37	2	226446835	226446835	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:226446835C>T	ENST00000272907.6	+	4	1115	c.702C>T	c.(700-702)ccC>ccT	p.P234P	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	234																	TGGGCAGCCCCGCGGGAGACC	0.602000													48	63					0	0	1	0	0
SLC22A12	116085	broad.mit.edu	37	11	64359247	64359247	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:64359247G>A	ENST00000377574.1	+	1	966	c.219G>A	c.(217-219)ctG>ctA	p.L73L	SLC22A12_ENST00000336464.7_Silent_p.L73L|SLC22A12_ENST00000473690.1_5'UTR|SLC22A12_ENST00000377572.1_Silent_p.L73L|SLC22A12_ENST00000377567.2_Silent_p.L73L	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	73					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						AGGCCCTCCTGGCTATTTCCA	0.692000													29	24					0	0	1	0	0
ADCY7	113	broad.mit.edu	37	16	50338354	50338354	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr16:50338354G>A	ENST00000394697.2	+	11	1792	c.1452G>A	c.(1450-1452)atG>atA	p.M484I	ADCY7_ENST00000538642.1_Missense_Mutation_p.M484I|ADCY7_ENST00000537579.1_Intron|ADCY7_ENST00000254235.3_Missense_Mutation_p.M484I|ADCY7_ENST00000566433.2_Missense_Mutation_p.M484I			P51828	ADCY7_HUMAN	adenylate cyclase 7	484					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	CAGTGCGCATGACCCGGTACC	0.692000													34	48					0	0	1	0	0
GPR32	2854	broad.mit.edu	37	19	51274658	51274658	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr19:51274658C>T	ENST00000270590.4	+	1	938	c.801C>T	c.(799-801)atC>atT	p.I267I		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	267						integral to plasma membrane	N-formyl peptide receptor activity			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CTTTCTTTATCTTCTGGTCCC	0.612000													37	45					0	0	1	0	0
TLR2	7097	broad.mit.edu	37	4	154624727	154624727	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr4:154624727C>T	ENST00000260010.6	+	1	2076	c.668C>T	c.(667-669)tCc>tTc	p.S223F		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	223					cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding	p.S223F(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				GTTACAAGTTCCGTGGAATGT	0.343000													6	28					0	0	1	0	0
B3GNT3	10331	broad.mit.edu	37	19	17919150	17919150	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr19:17919150C>T	ENST00000318683.6	+	2	681	c.534C>T	c.(532-534)ttC>ttT	p.F178F	B3GNT3_ENST00000595387.1_Silent_p.F178F	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3	178					protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						AGTGGGACTTCCACGACTCCT	0.617000													18	27					0	0	1	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140720043	140720043	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr5:140720043C>T	ENST00000394576.2	+	1	1505	c.1505C>T	c.(1504-1506)tCc>tTc	p.S502F	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCACCCTTATCCTCTTACATC	0.527000													158	37					0	0	1	0	0
RNF144A	9781	broad.mit.edu	37	2	7160794	7160794	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:7160794C>T	ENST00000320892.6	+	6	934	c.492C>T	c.(490-492)ttC>ttT	p.F164F	RNF144A_ENST00000467276.1_3'UTR	NM_014746.3	NP_055561.2	P50876	R144A_HUMAN	ring finger protein 144A	164						Golgi apparatus|integral to membrane	ligase activity|zinc ion binding	p.F164F(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)	25	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)		OV - Ovarian serous cystadenocarcinoma(76;0.195)		CGATCACCTTCCTCCCCGGGG	0.592000													48	68					0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38412643	38412643	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr5:38412643G>A	ENST00000322350.5	+	11	1733	c.1387G>A	c.(1387-1389)Gag>Aag	p.E463K	EGFLAM_ENST00000354891.3_Missense_Mutation_p.E463K|EGFLAM_ENST00000336740.6_Missense_Mutation_p.E229K|EGFLAM_ENST00000397202.2_5'UTR	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	463	Laminin G-like 1.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					CATCGTAAGTGAGACCAAAAT	0.488000													62	53					0	0	1	0	0
LXN	56925	broad.mit.edu	37	3	158387396	158387396	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:158387396C>T	ENST00000264265.3	-	3	410	c.196G>A	c.(196-198)Gtt>Att	p.V66I	GFM1_ENST00000478576.1_Intron|GFM1_ENST00000264263.5_Intron|GFM1_ENST00000486715.1_Intron	NM_020169.3	NP_064554.3	Q9BS40	LXN_HUMAN	latexin	66						cytoplasm	metalloendopeptidase inhibitor activity|protein binding			breast(2)|endometrium(1)|kidney(2)	5			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			TTCACCTTAACTTGCTGTTTG	0.358000													23	8					0	0	1	0	0
SLC17A2	10246	broad.mit.edu	37	6	25924106	25924106	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr6:25924106C>T	ENST00000377850.3	-	3	581	c.57G>A	c.(55-57)ggG>ggA	p.G19G	SLC17A2_ENST00000265425.3_Silent_p.G19G|SLC17A2_ENST00000360488.3_Silent_p.G19G			O00624	NPT3_HUMAN	solute carrier family 17, member 2	19					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						TAAGAGCCAGCCCATAGCGTA	0.473000													8	26					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9085237	9085237	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr19:9085237G>A	ENST00000397910.4	-	1	6781	c.6578C>T	c.(6577-6579)tCc>tTc	p.S2193F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2193	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CATTCTAAAGGAAACCAAAGA	0.468000													16	14					0	0	1	0	0
HOXD12	3238	broad.mit.edu	37	2	176964539	176964539	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:176964539C>T	ENST00000406506.2	+	1	82	c.10C>T	c.(10-12)Cgc>Tgc	p.R4C	HOXD12_ENST00000404162.2_Missense_Mutation_p.R4C			P35452	HXD12_HUMAN	homeobox D12	4						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		GATGTGTGAGCGCAGTCTCTA	0.542000													4	127					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13914067	13914067	+	Splice_Site	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr5:13914067C>T	ENST00000265104.4	-	11	1425	c.1320_splice	c.e11-1	p.E441_splice		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	441	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			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)					AGCTGGTATTCCTTAAAATCA	0.303000									Kartagener syndrome				9	12					0	0	1	0	0
BCAS1	8537	broad.mit.edu	37	20	52570034	52570034	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr20:52570034C>T	ENST00000395961.3	-	11	1783	c.1617G>A	c.(1615-1617)ggG>ggA	p.G539G	BCAS1_ENST00000371440.3_Silent_p.G548G|BCAS1_ENST00000434986.2_Silent_p.G205G|BCAS1_ENST00000371435.2_Silent_p.G461G	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	539						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			GGAGCTTGTCCCCATTCTGCA	0.537000													60	59					0	0	1	0	0
COL2A1	1280	broad.mit.edu	37	12	48376352	48376352	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr12:48376352G>A	ENST00000380518.3	-	34	2398	c.2234C>T	c.(2233-2235)cCt>cTt	p.P745L	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Missense_Mutation_p.P676L	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	745	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	AAGACCTGGAGGGCCCTGAGC	0.627000													5	17					0	0	1	0	0
ABCG4	64137	broad.mit.edu	37	11	119029362	119029362	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:119029362C>T	ENST00000307417.3	+	11	1627	c.1263C>T	c.(1261-1263)ttC>ttT	p.F421F	ABCG4_ENST00000449422.2_Silent_p.F421F|ABCG4_ENST00000531739.1_Silent_p.F421F	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	421	ABC transmembrane type-2.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GCAAGGTCTTCAACAACACCG	0.587000													28	108					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105411078	105411078	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr14:105411078G>A	ENST00000333244.5	-	7	10829	c.10710C>T	c.(10708-10710)gaC>gaT	p.D3570D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3570						nucleus				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)			GGCCCTTGAGGTCCACTTTGG	0.617000													37	109					0	0	1	0	0
ZNF560	147741	broad.mit.edu	37	19	9577721	9577721	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr19:9577721C>T	ENST00000301480.4	-	10	2115	c.1902G>A	c.(1900-1902)ggG>ggA	p.G634G		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	634					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G634G(1)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						CAAAGGCTTTCCCACAGTCCT	0.378000													51	47					0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123451834	123451834	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:123451834C>T	ENST00000360772.3	-	12	1803	c.1425G>A	c.(1423-1425)ctG>ctA	p.L475L	MYLK_ENST00000359169.1_Silent_p.L475L|MYLK_ENST00000475616.1_Silent_p.L475L|MYLK_ENST00000360304.3_Silent_p.L475L|MYLK_ENST00000346322.5_Intron			Q15746	MYLK_HUMAN	myosin light chain kinase	475	Ig-like C2-type 3.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TCCGGGCTTTCAGCAGGCAGA	0.577000													5	32					0	0	1	0	0
DNAI1	27019	broad.mit.edu	37	9	34490046	34490046	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr9:34490046G>A	ENST00000242317.4	+	6	596	c.425G>A	c.(424-426)gGa>gAa	p.G142E	DNAI1_ENST00000488369.1_3'UTR	NM_012144.2	NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	142					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		TCAGAAACAGGAAACCTCGAA	0.493000									Kartagener syndrome				25	0					0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109383769	109383769	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:109383769C>T	ENST00000283195.6	+	20	6900	c.6774C>T	c.(6772-6774)ttC>ttT	p.F2258F		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2258					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						AAAATCTTTTCCGTTTTGGTG	0.398000													70	150					0	0	1	0	0
UCP2	7351	broad.mit.edu	37	11	73686155	73686155	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:73686155G>A	ENST00000310473.3	-	8	1669	c.827C>T	c.(826-828)tCc>tTc	p.S276F	UCP2_ENST00000536983.1_Missense_Mutation_p.P216S	NM_003355.2	NP_003346.2	P55851	UCP2_HUMAN	uncoupling protein 2 (mitochondrial, proton carrier)	276	Purine nucleotide binding (By similarity).				proton transport|respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	binding			large_intestine(1)|lung(3)|prostate(1)	5	Breast(11;0.000112)					GCGGAGAAAGGAGGGCATGAA	0.567000													5	8					0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18023639	18023639	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr17:18023639G>A	ENST00000205890.5	+	2	1863	c.1525G>A	c.(1525-1527)Gat>Aat	p.D509N		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	509	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CCCCTTGGGGGATGCGGACGA	0.652000													34	3					0	0	1	0	0
TOPBP1	11073	broad.mit.edu	37	3	133372319	133372319	+	Silent	SNP	T	T	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:133372319T>A	ENST00000260810.5	-	7	923	c.792A>T	c.(790-792)acA>acT	p.T264T	TOPBP1_ENST00000511439.1_5'UTR	NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	264	BRCT 2.				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						AAAACCACTGTGTGGTCACAC	0.388000								Other conserved DNA damage response genes					25	15					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152281999	152281999	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:152281999C>T	ENST00000368799.1	-	3	5398	c.5363G>A	c.(5362-5364)gGa>gAa	p.G1788E	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1788	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTTTGTCTTCCTCCAGTGCT	0.597000									Ichthyosis				517	30					0	0	1	0	0
SEC24D	9871	broad.mit.edu	37	4	119674001	119674001	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr4:119674001G>A	ENST00000379735.5	-	12	1738	c.1467C>T	c.(1465-1467)atC>atT	p.I489I	SEC24D_ENST00000429811.2_Silent_p.I44I|SEC24D_ENST00000505134.1_5'UTR|SEC24D_ENST00000280551.6_Silent_p.I488I|SEC24D_ENST00000511481.1_Silent_p.I119I|SEC24D_ENST00000419654.2_Silent_p.I44I	NM_014822.2	NP_055637.2	O94855	SC24D_HUMAN	SEC24 family member D	488					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						TGTTATATGTGATAAAACCCA	0.378000													20	20					0	0	1	0	0
OR8K5	219453	broad.mit.edu	37	11	55927275	55927275	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:55927275G>A	ENST00000313447.1	-	1	518	c.519C>T	c.(517-519)gtC>gtT	p.V173V		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				AATGACTGATGACATTAGAGC	0.358000													35	22					0	0	1	0	0
TMPPE	643853	broad.mit.edu	37	3	33135509	33135509	+	Missense_Mutation	SNP	G	G	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:33135509G>T	ENST00000342462.4	-	2	369	c.179C>A	c.(178-180)tCc>tAc	p.S60Y	GLB1_ENST00000445488.2_Intron|GLB1_ENST00000399402.3_Intron|GLB1_ENST00000307363.5_Intron|GLB1_ENST00000307377.8_Intron|TMPPE_ENST00000416695.2_Intron	NM_001039770.2	NP_001034859.2	Q6ZT21	TMPPE_HUMAN	transmembrane protein with metallophosphoesterase domain	60						integral to membrane	metal ion binding			breast(1)|large_intestine(5)|lung(6)|prostate(1)	13						AATGTAGAGGGAGCCAATGAG	0.567000													19	5					4.63292e-17	4.6675e-17	1	1	0
PKHD1L1	93035	broad.mit.edu	37	8	110509192	110509192	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr8:110509192G>A	ENST00000378402.5	+	64	10476	c.10372G>A	c.(10372-10374)Gga>Aga	p.G3458R		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3458					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TGAAGCCCATGGAGGTTTATA	0.378000										HNSCC(38;0.096)			45	74					0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227924951	227924951	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:227924951C>T	ENST00000396625.3	-	27	2272	c.2065G>A	c.(2065-2067)Gga>Aga	p.G689R	COL4A4_ENST00000329662.7_Missense_Mutation_p.G689R	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	689	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			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)		CCTGGAAATCCCTTCGGACCT	0.438000													13	29					0	0	1	0	0
MIR129-1	406917	broad.mit.edu	37	7	127847972	127847972	+	RNA	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr7:127847972G>A	ENST00000384972.1	+	0	49					NR_029596.1																						CAGTAGTCAGGAAGCCCTTAC	0.587000													4	14					0	0	1	0	0
POU2F3	25833	broad.mit.edu	37	11	120178263	120178263	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:120178263G>A	ENST00000260264.4	+	9	885	c.851G>A	c.(850-852)aGa>aAa	p.R284K	POU2F3_ENST00000543440.2_Missense_Mutation_p.R282K	NM_001244682.1	NP_001231611.1	Q9UKI9	PO2F3_HUMAN	POU class 2 homeobox 3	282					negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding			large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		GGTAGGAAGAGAAAGAAACGG	0.582000													108	50					0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155200163	155200163	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:155200163G>A	ENST00000460012.1	-	23	3919	c.3562C>T	c.(3562-3564)Cat>Tat	p.H1188Y	PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000414191.1_Missense_Mutation_p.H1188Y|PLCH1_ENST00000340059.7_Missense_Mutation_p.H1226Y|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000334686.6_Missense_Mutation_p.H1188Y			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1226					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AAGGGACAATGGCCTGACATC	0.488000													9	37					0	0	1	0	0
SGCZ	137868	broad.mit.edu	37	8	13965710	13965710	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr8:13965710C>T	ENST00000382080.1	-	6	1297	c.582G>A	c.(580-582)gaG>gaA	p.E194E	SGCZ_ENST00000421524.2_Silent_p.E147E	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	181					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		TGTGCGGCGTCTCCACAGAGT	0.458000													20	29					0	0	1	0	0
PLIN5	440503	broad.mit.edu	37	19	4523769	4523769	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr19:4523769G>A	ENST00000381848.3	-	8	1243	c.1163C>T	c.(1162-1164)cCc>cTc	p.P388L		NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN	perilipin 5	388						lipid particle				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						GTCGGGCAGGGGCTCGGGTCG	0.736000													23	31					0	0	1	0	0
KIAA0319	9856	broad.mit.edu	37	6	24570193	24570193	+	Silent	SNP	G	G	A	rs138076041		TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr6:24570193G>A	ENST00000535378.1	-	13	2544	c.1902C>T	c.(1900-1902)acC>acT	p.T634T	KIAA0319_ENST00000430948.2_Silent_p.T598T|KIAA0319_ENST00000378214.3_Silent_p.T643T|KIAA0319_ENST00000543707.1_Silent_p.T643T|KIAA0319_ENST00000537886.1_Silent_p.T643T	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	643	PKD 4.				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						TCCCATCCAGGGTAGCACTTT	0.522000													19	24					0	0	1	0	0
PGAP1	80055	broad.mit.edu	37	2	197755585	197755585	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:197755585G>A	ENST00000354764.3	-	10	1254	c.1140C>T	c.(1138-1140)atC>atT	p.I380I	PGAP1_ENST00000409475.1_Silent_p.I380I|PGAP1_ENST00000409188.1_3'UTR	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	380					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			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						CATGAGTGTAGATTTTTCTAT	0.299000													13	17					0	0	1	0	0
SH3TC1	54436	broad.mit.edu	37	4	8230222	8230222	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr4:8230222C>T	ENST00000539824.1	+	12	2947	c.2573C>T	c.(2572-2574)tCg>tTg	p.S858L	SH3TC1_ENST00000245105.3_Missense_Mutation_p.S934L			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	934							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CGGCTGTTCTCGAGGCTGCCC	0.711000													25	35					0	0	1	0	0
PPP2R2A	5520	broad.mit.edu	37	8	26221279	26221279	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr8:26221279C>T	ENST00000380737.3	+	8	1174	c.845C>T	c.(844-846)tCc>tTc	p.S282F	PPP2R2A_ENST00000315985.7_Missense_Mutation_p.S292F	NM_002717.3	NP_002708.1			protein phosphatase 2, regulatory subunit B, alpha											kidney(1)|large_intestine(2)|ovary(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		TCATTTTTTTCCGAAATCATC	0.358000													16	19					0	0	1	0	0
TCEA1	6917	broad.mit.edu	37	8	54934667	54934667	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr8:54934667G>A	ENST00000521604.2	-	1	422	c.19C>T	c.(19-21)Cgc>Tgc	p.R7C	TCEA1_ENST00000518784.1_Missense_Mutation_p.R7C|TCEA1_ENST00000522635.1_Missense_Mutation_p.R7C|TCEA1_ENST00000396401.3_Missense_Mutation_p.R7C|TCEA1_ENST00000520534.1_Missense_Mutation_p.R7C|TCEA1_ENST00000521086.2_5'UTR	NM_006756.2	NP_006747.1	P23193	TCEA1_HUMAN	transcription elongation factor A (SII), 1	7	TFIIS N-terminal.				positive regulation of viral transcription|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	nucleoplasm	DNA binding|translation elongation factor activity|zinc ion binding			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;9.1e-07)|Epithelial(17;9.44e-05)|all cancers(17;0.000699)			TTGGCAAAGCGGACCACTTCG	0.692000			T	PLAG1	salivary adenoma								28	83					0	0	1	0	0
STK3	6788	broad.mit.edu	37	8	99608308	99608308	+	Nonsense_Mutation	SNP	A	A	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr8:99608308A>T	ENST00000523601.1	-	9	1257	c.858T>A	c.(856-858)tgT>tgA	p.C286*	STK3_ENST00000419617.2_Nonsense_Mutation_p.C258*|STK3_ENST00000521768.1_5'UTR	NM_001256312.1	NP_001243241.1	Q13188	STK3_HUMAN	serine/threonine kinase 3	258					apoptosis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of apoptosis	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein dimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17	Breast(36;2.4e-06)	Breast(495;0.106)	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)		TCTTCACCAAACACTTTTTAA	0.403000													27	40					0	0	1	0	0
CAPN5	726	broad.mit.edu	37	11	76833641	76833641	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:76833641C>T	ENST00000278559.3	+	12	1812	c.1623C>T	c.(1621-1623)atC>atT	p.I541I	CAPN5_ENST00000456580.2_Silent_p.I581I|CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Silent_p.I541I	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	541	C2.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						CTTATGTGATCATCAAGTGTG	0.572000													13	10					0	0	1	0	0
RAB27B	5874	broad.mit.edu	37	18	52556516	52556516	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr18:52556516C>T	ENST00000262094.5	+	6	1050	c.529C>T	c.(529-531)Ctt>Ttt	p.L177F	RP11-839G9.1_ENST00000588466.1_RNA	NM_004163.4	NP_004154.2	O00194	RB27B_HUMAN	RAB27B, member RAS oncogene family	177					protein transport|small GTPase mediated signal transduction	Golgi apparatus|plasma membrane	GTP binding|GTPase activity			large_intestine(3)|lung(3)|skin(1)	7				Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219)		TGTAGAAACCCTTTTGGACTT	0.403000													7	73					0	0	1	0	0
OR4A15	81328	broad.mit.edu	37	11	55136252	55136252	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:55136252C>T	ENST00000314706.3	+	1	893	c.893C>T	c.(892-894)tCc>tTc	p.S298F		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	298					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						ATTGATAAATCCATGACTGTA	0.403000													34	151					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152080059	152080059	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:152080059C>T	ENST00000368804.1	-	2	5633	c.5634G>A	c.(5632-5634)agG>agA	p.R1878R		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1878	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCGTAATTTCCTTTCCCGTT	0.577000													144	10					0	0	1	0	0
RASGEF1C	255426	broad.mit.edu	37	5	179564662	179564662	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr5:179564662G>A	ENST00000393371.2	-	2	524	c.228C>T	c.(226-228)ccC>ccT	p.P76P	RASGEF1C_ENST00000361132.4_Silent_p.P76P			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	76	N-terminal Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGAGCTCCCGGGGCTCGATGA	0.652000													20	49					0	0	1	0	0
NSD1	64324	broad.mit.edu	37	5	176631248	176631248	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr5:176631248C>T	ENST00000439151.2	+	4	1236	c.1191C>T	c.(1189-1191)gtC>gtT	p.V397V	NSD1_ENST00000354179.4_Silent_p.V128V|NSD1_ENST00000347982.4_Silent_p.V128V|NSD1_ENST00000361032.4_Intron	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	397					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AGCTACCTGTCCTTAGGAGAA	0.423000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			28	102					0	0	1	0	0
TNFRSF10D	8793	broad.mit.edu	37	8	23003217	23003217	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr8:23003217T>G	ENST00000312584.3	-	5	794	c.700A>C	c.(700-702)Aag>Cag	p.K234Q		NM_003840.4	NP_003831.2	Q9UBN6	TR10D_HUMAN	tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain	234					anti-apoptosis|apoptosis	integral to membrane	TRAIL binding|transmembrane receptor activity			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		ATGAATTTCTTCCGACATGAA	0.517000													18	49					0	0	1	0	0
CCDC91	55297	broad.mit.edu	37	12	28459718	28459718	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr12:28459718C>T	ENST00000545336.1	+	8	730	c.311C>T	c.(310-312)cCa>cTa	p.P104L	CCDC91_ENST00000381259.1_Missense_Mutation_p.P104L|CCDC91_ENST00000540401.1_3'UTR|CCDC91_ENST00000381256.1_Missense_Mutation_p.P104L|CCDC91_ENST00000539107.1_Missense_Mutation_p.P104L|CCDC91_ENST00000306172.5_Missense_Mutation_p.P74L			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91	104					protein transport	Golgi apparatus|membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					TCACTTTTTCCATTGGGTTTA	0.348000													12	33					0	0	1	0	0
RDH8	50700	broad.mit.edu	37	19	10124145	10124145	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr19:10124145G>A	ENST00000591589.1	+	1	221	c.32G>A	c.(31-33)gGa>gAa	p.G11E	RDH8_ENST00000171214.1_5'UTR			Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	0					estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	CTGCCCGGCGGAGGTCACGAG	0.617000													27	47					0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157414093	157414093	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr7:157414093C>T	ENST00000389413.3	-	14	2321	c.2218G>A	c.(2218-2220)Gag>Aag	p.E740K	PTPRN2_ENST00000404321.2_Missense_Mutation_p.E792K|PTPRN2_ENST00000409483.1_Missense_Mutation_p.E731K|PTPRN2_ENST00000389416.4_Missense_Mutation_p.E752K|PTPRN2_ENST00000389418.4_Missense_Mutation_p.E769K	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	769						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GGCACGTTCTCCTCCCTCTGG	0.657000													120	233					0	0	1	0	0
VGLL4	9686	broad.mit.edu	37	3	11606393	11606393	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:11606393G>A	ENST00000273038.3	-	4	720	c.355C>T	c.(355-357)Cac>Tac	p.H119Y	VGLL4_ENST00000413604.1_Missense_Mutation_p.H60Y|VGLL4_ENST00000430365.2_Missense_Mutation_p.H125Y|VGLL4_ENST00000404339.1_Missense_Mutation_p.H124Y|VGLL4_ENST00000451674.2_Missense_Mutation_p.H39Y|VGLL4_ENST00000424529.2_Missense_Mutation_p.H35Y	NM_014667.2	NP_055482.2	Q14135	VGLL4_HUMAN	vestigial like 4 (Drosophila)	119					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)		GTGTACAGGTGGCTGCCGTGC	0.692000													5	24					0	0	1	0	0
POU2AF1	5450	broad.mit.edu	37	11	111229570	111229570	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:111229570T>A	ENST00000393067.3	-	2	604	c.90A>T	c.(88-90)gaA>gaT	p.E30D		NM_006235.2	NP_006226.2	Q16633	OBF1_HUMAN	POU class 2 associating factor 1	30					humoral immune response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|kidney(2)|lung(2)	5		all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364)		TCCTCAGCAGTTCCTTCACTG	0.627000			T	BCL6	NHL								15	10					0	0	1	0	0
SLC22A9	114571	broad.mit.edu	37	11	63175670	63175670	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:63175670G>A	ENST00000279178.3	+	8	1624	c.1375G>A	c.(1375-1377)Gaa>Aaa	p.E459K	SLC22A9_ENST00000310969.4_3'UTR	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	459					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						CCATGGAAATGAAGTAATTCC	0.453000													16	18					0	0	1	0	0
ANKS4B	257629	broad.mit.edu	37	16	21245186	21245186	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr16:21245186G>A	ENST00000311620.5	+	1	201	c.128G>A	c.(127-129)gGg>gAg	p.G43E		NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 4B	43										NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		GCCTACCATGGGAACTTGGAA	0.463000													53	58					0	0	1	0	0
MALT1	10892	broad.mit.edu	37	18	56348519	56348519	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr18:56348519C>T	ENST00000348428.3	+	2	585	c.327C>T	c.(325-327)ttC>ttT	p.F109F	RP11-126O1.4_ENST00000588835.1_RNA|MALT1_ENST00000345724.3_Silent_p.F109F	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma translocation gene 1	109	Death.				activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity			central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						TGAGTGATTTCCTGCAGGCTA	0.468000			T	BIRC3	MALT								12	48					0	0	1	0	0
OR8D2	283160	broad.mit.edu	37	11	124189785	124189785	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:124189785G>A	ENST00000357438.2	-	1	399	c.309C>T	c.(307-309)ttC>ttT	p.F103F		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		AAATAAGGAAGAAATAAAGTT	0.403000													10	39					0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159650965	159650965	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr6:159650965C>T	ENST00000297267.9	+	10	1499	c.1299C>T	c.(1297-1299)ttC>ttT	p.F433F	FNDC1_ENST00000340366.6_Intron	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	433	Fibronectin type-III 4.					extracellular region		p.F433F(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GCTATCTTTTCAAAATCCGGG	0.527000													108	64					0	0	1	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125685446	125685446	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chrX:125685446G>A	ENST00000371126.1	-	1	1388	c.1146C>T	c.(1144-1146)ttC>ttT	p.F382F		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	382										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						TTTCCTCCAGGAATTTCTGGG	0.612000													32	2					0	0	1	0	0
TMEM200A	114801	broad.mit.edu	37	6	130761868	130761868	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr6:130761868G>A	ENST00000392429.1	+	2	2679	c.301G>A	c.(301-303)Gaa>Aaa	p.E101K	TMEM200A_ENST00000296978.3_Missense_Mutation_p.E101K|TMEM200A_ENST00000545622.1_Missense_Mutation_p.E101K	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	101						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		GTCAACAAATGAAACTCAGGT	0.433000													33	24					0	0	1	0	0
ZNF7	7553	broad.mit.edu	37	8	146067840	146067840	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr8:146067840T>A	ENST00000528372.1	+	5	1588	c.1348T>A	c.(1348-1350)Ttt>Att	p.F450I	ZNF7_ENST00000544249.1_Missense_Mutation_p.F354I|ZNF7_ENST00000325241.6_Missense_Mutation_p.F450I|ZNF7_ENST00000325217.5_Intron|ZNF7_ENST00000525266.1_Intron|ZNF7_ENST00000446747.2_Missense_Mutation_p.F461I			P17097	ZNF7_HUMAN	zinc finger protein 7	450					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)		TACAAAAGCCTTTGGTTGTAG	0.448000													26	131					0	0	1	0	0
HIP1	3092	broad.mit.edu	37	7	75203130	75203130	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr7:75203130C>T	ENST00000336926.6	-	8	707	c.681G>A	c.(679-681)caG>caA	p.Q227Q	HIP1_ENST00000434438.2_Silent_p.Q227Q	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	227					activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CCAAGATGACCTGGATCAGCG	0.532000			T	PDGFRB	CMML								42	49					0	0	1	0	0
NAA11	84779	broad.mit.edu	37	4	80246948	80246948	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr4:80246948C>T	ENST00000286794.4	-	1	256	c.84G>A	c.(82-84)atG>atA	p.M28I		NM_032693.2	NP_116082.1	Q9BSU3	NAA11_HUMAN	N(alpha)-acetyltransferase 11, NatA catalytic subunit	28	Interaction with NAA15 (By similarity).|N-acetyltransferase.					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						AATAGTATTTCATCTGGTAGT	0.493000													45	35					0	0	1	0	0
CYTIP	9595	broad.mit.edu	37	2	158272554	158272554	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:158272554G>A	ENST00000264192.3	-	8	836	c.715C>T	c.(715-717)Cga>Tga	p.R239*	CYTIP_ENST00000540637.1_Nonsense_Mutation_p.R133*	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	239					regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						CTGGATAATCGATTCCGGTCC	0.542000													12	21					0	0	1	0	0
DNAL4	10126	broad.mit.edu	37	22	39175483	39175483	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr22:39175483G>A	ENST00000216068.4	-	4	533	c.289C>T	c.(289-291)Ctg>Ttg	p.L97L	DNAL4_ENST00000486019.1_5'UTR|SUN2_ENST00000406622.1_Intron	NM_005740.2	NP_005731.1	O96015	DNAL4_HUMAN	dynein, axonemal, light chain 4	97					microtubule-based movement|nerve growth factor receptor signaling pathway	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|plasma membrane	ATPase activity, coupled|microtubule motor activity			lung(1)|skin(1)	2	Melanoma(58;0.04)					CACACAGCCAGGGTGCCCCCG	0.627000													4	4					0	0	1	0	0
C6	729	broad.mit.edu	37	5	41176717	41176717	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr5:41176717T>A	ENST00000263413.3	-	8	1292	c.1028A>T	c.(1027-1029)aAc>aTc	p.N343I	C6_ENST00000337836.5_Missense_Mutation_p.N343I|C6_ENST00000475349.1_5'UTR	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	343	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				AGGCAGATGGTTAAGTGCTTT	0.408000													48	86					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141730496	141730496	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr7:141730496G>A	ENST00000475668.2	+	12	1463	c.1409G>A	c.(1408-1410)aGg>aAg	p.R470K	MGAM_ENST00000549489.2_Missense_Mutation_p.R470K			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	470	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CCATATGACAGGGGTTCAGAT	0.468000													59	43					0	0	1	0	0
LGI1	9211	broad.mit.edu	37	10	95552643	95552643	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr10:95552643C>T	ENST00000371418.4	+	6	907	c.647C>T	c.(646-648)tCg>tTg	p.S216L	LGI1_ENST00000371413.3_Missense_Mutation_p.S216L|LGI1_ENST00000542308.1_Missense_Mutation_p.S168L	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	216	LRRCT.				axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				AGTCTCTCCTCGAAGGATTTT	0.418000													48	11					0	0	1	0	0
KLK8	11202	broad.mit.edu	37	19	51499413	51499413	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr19:51499413C>T	ENST00000600767.1	-	7	1174	c.685G>A	c.(685-687)Ggc>Agc	p.G229S	KLK8_ENST00000320838.5_3'UTR|KLK8_ENST00000593490.1_3'UTR|KLK8_ENST00000391806.2_Missense_Mutation_p.G274S|KLK8_ENST00000291726.7_Missense_Mutation_p.G229S|KLK8_ENST00000347619.4_Missense_Mutation_p.G88S|KLK8_ENST00000598195.1_5'UTR|CTB-147C22.9_ENST00000594512.1_RNA			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			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)		GGGTCTGAGCCCCAGGATGTG	0.562000													42	67					0	0	1	0	0
CAV3	859	broad.mit.edu	37	3	8787215	8787215	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:8787215G>A	ENST00000343849.2	+	2	195	c.118G>A	c.(118-120)Gat>Aat	p.D40N	CAV3_ENST00000472766.1_Intron|CAV3_ENST00000397368.2_Missense_Mutation_p.D40N	NM_001234.4|NM_033337.2	NP_001225.1|NP_203123.1	P56539	CAV3_HUMAN	caveolin 3	40					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			breast(1)|kidney(2)|large_intestine(4)|lung(3)|prostate(1)	11						CCTGCAGGTGGATTTTGAAGA	0.557000													3	12					0	0	1	0	0
AP4E1	23431	broad.mit.edu	37	15	51293309	51293309	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr15:51293309C>T	ENST00000261842.5	+	20	3288	c.3182C>T	c.(3181-3183)tCt>tTt	p.S1061F	AP4E1_ENST00000560508.1_Missense_Mutation_p.S986F|AP4E1_ENST00000561397.1_3'UTR	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	1061					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		ATGTCAGAATCTCAAGCTGCA	0.338000													29	52					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179466747	179466747	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:179466747C>T	ENST00000589042.1	-	284	55475	c.55251G>A	c.(55249-55251)aaG>aaA	p.K18417K	TTN_ENST00000342175.6_Silent_p.K9544K|TTN_ENST00000591111.1_Silent_p.K16776K|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.K9352K|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Silent_p.K15849K|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Silent_p.K9477K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16776	Fibronectin type-III 33.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			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)			CTTTCTTTGCCTTTCCATCAA	0.408000													32	45					0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48691853	48691853	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:48691853C>T	ENST00000544264.1	-	7	5301	c.5021G>A	c.(5020-5022)gGa>gAa	p.G1674E	CELSR3_ENST00000164024.4_Missense_Mutation_p.G1674E			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1674	Laminin G-like 1.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGGGACACCTCCCAGAAGAAG	0.627000													14	25					0	0	1	0	0
ARMC3	219681	broad.mit.edu	37	10	23319624	23319624	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr10:23319624G>A	ENST00000298032.5	+	17	2229	c.2145G>A	c.(2143-2145)tgG>tgA	p.W715*	ARMC3_ENST00000409983.3_Nonsense_Mutation_p.W708*|ARMC3_ENST00000376528.4_Nonsense_Mutation_p.W452*	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	715							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ACAAAGAATGGTGTCCTCCCT	0.403000													31	5					0	0	1	0	0
PHACTR1	221692	broad.mit.edu	37	6	12933876	12933876	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr6:12933876T>G	ENST00000379348.2	+	4	439	c.262T>G	c.(262-264)Ttt>Gtt	p.F88V	PHACTR1_ENST00000379350.1_Intron|PHACTR1_ENST00000332995.7_Intron			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	0						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			CGTTTCCCTTTTTGGGGATAT	0.502000													56	77					0	0	1	0	0
TRIM14	9830	broad.mit.edu	37	9	100857228	100857228	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr9:100857228G>A	ENST00000341469.2	-	4	630	c.621C>T	c.(619-621)ccC>ccT	p.P207P	TRIM14_ENST00000375098.3_Silent_p.P207P|TRIM14_ENST00000342043.3_Silent_p.P207P	NM_014788.2	NP_055603.2	Q14142	TRI14_HUMAN	tripartite motif containing 14	207						cytoplasm|intracellular	zinc ion binding	p.P207P(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(62;0.0559)				AGCTCTTGACGGGCTCAAAGG	0.587000													67	5					0	0	1	0	0
DSG1	1828	broad.mit.edu	37	18	28909955	28909955	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr18:28909955C>T	ENST00000257192.4	+	5	685	c.473C>T	c.(472-474)tCa>tTa	p.S158L		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	158	Cadherin 1.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			CCAGTGTTTTCAATGGCTACA	0.433000													12	66					0	0	1	0	0
PCDHAC1	56135	broad.mit.edu	37	5	140308409	140308409	+	Silent	SNP	A	A	G			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr5:140308409A>G	ENST00000253807.2	+	1	1932	c.1932A>G	c.(1930-1932)ccA>ccG	p.P644P	PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHAC1_ENST00000409700.3_Silent_p.P644P|PCDHA13_ENST00000409494.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron	NM_018898.3	NP_061721.2														NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGGAGACCCACCACTTTCCT	0.522000													139	37					0	0	1	0	0
ELTD1	64123	broad.mit.edu	37	1	79470894	79470894	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:79470894G>A	ENST00000370742.3	-	2	96	c.33C>T	c.(31-33)tcC>tcT	p.S11S		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	11					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TCAACAAAGTGGAAAAAACCA	0.318000													31	4					0	0	1	0	0
PPP2R3B	28227	broad.mit.edu	37	X	301559	301559	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chrX:301559G>A	ENST00000390665.3	-	10	1310	c.1292C>T	c.(1291-1293)gCc>gTc	p.A431V		NM_013239.4	NP_037371.2	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'', beta	431					cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity			endometrium(5)|lung(5)|skin(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GAAGGGCAGGGCCTCGATGGC	0.652000													21	15					0	0	1	0	0
ZNF257	113835	broad.mit.edu	37	19	22272240	22272240	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr19:22272240C>T	ENST00000594947.1	+	4	1832	c.1688C>T	c.(1687-1689)tCa>tTa	p.S563L		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	563					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				AAACATAATTCATAATGGAGA	0.353000													6	6					0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168151452	168151452	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr5:168151452C>T	ENST00000519560.1	-	21	2727	c.2308G>A	c.(2308-2310)Gag>Aag	p.E770K	SLIT3_ENST00000332966.8_Missense_Mutation_p.E770K|SLIT3_ENST00000404867.3_Missense_Mutation_p.E770K	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	770					apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCGGACAGCTCTCTGGGCACG	0.512000													7	64					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179413949	179413949	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:179413949C>T	ENST00000589042.1	-	339	92628	c.92404G>A	c.(92404-92406)Gga>Aga	p.G30802R	TTN_ENST00000342175.6_Missense_Mutation_p.G21929R|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G29161R|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G21737R|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G28234R|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G21862R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29161	Fibronectin type-III 124.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			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)			GGTCCAACTCCTGCAGCATTT	0.458000													16	17					0	0	1	0	0
DCLK2	166614	broad.mit.edu	37	4	151114356	151114356	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr4:151114356C>T	ENST00000296550.7	+	3	1577	c.823C>T	c.(823-825)Cgt>Tgt	p.R275C	DCLK2_ENST00000302176.8_Missense_Mutation_p.R275C|DCLK2_ENST00000507694.1_3'UTR|DCLK2_ENST00000506325.1_Missense_Mutation_p.R275C	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	275	Doublecortin 2.				intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					AGAAAAATTTCGTTATGCCCA	0.368000													76	63					0	0	1	0	0
LPHN1	22859	broad.mit.edu	37	19	14273446	14273446	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr19:14273446C>T	ENST00000340736.6	-	6	1479	c.1182G>A	c.(1180-1182)ctG>ctA	p.L394L	LPHN1_ENST00000361434.3_Silent_p.L389L|CTB-55O6.12_ENST00000592086.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	394	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GCCCGAACTCCAGGCTGTAGC	0.617000													45	54					0	0	1	0	0
BMP5	653	broad.mit.edu	37	6	55638995	55638995	+	Silent	SNP	T	T	C			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr6:55638995T>C	ENST00000370830.3	-	4	1577	c.879A>G	c.(877-879)ggA>ggG	p.G293G	BMP5_ENST00000446683.2_Silent_p.G293G	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	293					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			TTGACTGAGGTCCCTGTCTTC	0.433000													40	62					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9088300	9088300	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr19:9088300G>A	ENST00000397910.4	-	1	3718	c.3515C>T	c.(3514-3516)tCa>tTa	p.S1172L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1172	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCTCTGAGTTGAAAATGTGGA	0.478000													43	52					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139277951	139277951	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr8:139277951C>T	ENST00000395297.1	-	4	462	c.292G>A	c.(292-294)Gaa>Aaa	p.E98K		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	98										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)			CTTACCCTTTCACCACCCAAG	0.463000										HNSCC(54;0.14)			30	58					0	0	1	0	0
GABRA6	2559	broad.mit.edu	37	5	161116137	161116137	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr5:161116137C>T	ENST00000523217.1	+	4	620	c.378C>T	c.(376-378)ttC>ttT	p.F126F	GABRA6_ENST00000274545.5_Silent_p.F136F|RP11-348M17.2_ENST00000521984.1_RNA	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	136					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			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)	ATAAACTCTTCAGAATAATGC	0.363000										TCGA Ovarian(5;0.080)			8	2					0	0	1	0	0
COL17A1	1308	broad.mit.edu	37	10	105800141	105800141	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr10:105800141G>A	ENST00000353479.5	-	40	3019	c.2729C>T	c.(2728-2730)cCa>cTa	p.P910L	COL17A1_ENST00000369733.3_Missense_Mutation_p.P910L	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	910	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GGGGCCAGGTGGGCCTGGGGG	0.547000													54	10					0	0	1	0	0
OLFM1	10439	broad.mit.edu	37	9	138011442	138011442	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr9:138011442C>T	ENST00000252854.4	+	6	1009	c.822C>T	c.(820-822)caC>caT	p.H274H	OLFM1_ENST00000371796.3_Silent_p.H265H|OLFM1_ENST00000371793.3_Silent_p.H292H	NM_014279.4	NP_055094.1	Q99784	NOE1_HUMAN	olfactomedin 1	292	Olfactomedin-like.				nervous system development	endoplasmic reticulum lumen	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		TCACCTCCCACCGTCTCCCCC	0.532000													74	10					0	0	1	0	0
PDXDC1	23042	broad.mit.edu	37	16	15122737	15122737	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr16:15122737C>T	ENST00000396410.4	+	15	1304	c.1207C>T	c.(1207-1209)Ccg>Tcg	p.P403S	PDXDC1_ENST00000447912.2_Missense_Mutation_p.P312S|PDXDC1_ENST00000325823.7_Missense_Mutation_p.P388S|PDXDC1_ENST00000450288.2_Missense_Mutation_p.P375S|PDXDC1_ENST00000563679.1_Missense_Mutation_p.P421S|PDXDC1_ENST00000535621.2_Missense_Mutation_p.P403S|PDXDC1_ENST00000569715.1_Missense_Mutation_p.P376S|PDXDC1_ENST00000455313.2_Missense_Mutation_p.P380S	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1	403					carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	GGTGTCAGATCCGGTGTTTAA	0.537000													4	30					0	0	1	0	0
PRAME	23532	broad.mit.edu	37	22	22890774	22890774	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr22:22890774C>T	ENST00000543184.1	-	5	2107	c.1245G>A	c.(1243-1245)ggG>ggA	p.G415G	PRAME_ENST00000398741.1_Silent_p.G415G|PRAME_ENST00000402697.1_Silent_p.G415G|PRAME_ENST00000398743.2_Silent_p.G415G|PRAME_ENST00000424204.2_Silent_p.G399G|PRAME_ENST00000539862.1_Silent_p.G399G|PRAME_ENST00000405655.3_Silent_p.G415G	NM_206953.1	NP_996836.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	415					apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		AGATGGAATTCCCGTAGAAGC	0.547000													15	43					0	0	1	0	0
OR6V1	346517	broad.mit.edu	37	7	142750170	142750170	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr7:142750170C>T	ENST00000418316.1	+	1	754	c.733C>T	c.(733-735)Ctg>Ttg	p.L245L		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					TCACCTCACACTGGTCTTCAT	0.547000													51	84					0	0	1	0	0
PPEF2	5470	broad.mit.edu	37	4	76797696	76797696	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr4:76797696G>A	ENST00000286719.7	-	11	1420	c.1064C>T	c.(1063-1065)cCc>cTc	p.P355L		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	355	Catalytic.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GGGCGAAGAGGGAAGAGAGCG	0.612000													23	23					0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125530384	125530384	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:125530384G>A	ENST00000431078.1	+	17	2903	c.2539G>A	c.(2539-2541)Gag>Aag	p.E847K		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	847	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			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)		AGCTCCTTCAGAGATCACCTT	0.483000													15	24					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6135190	6135190	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr12:6135190C>T	ENST00000261405.5	-	23	3244	c.2990G>A	c.(2989-2991)gGg>gAg	p.G997E		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	997	VWFD 3.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	ATCAAAATTCCCACACAGGCC	0.547000													36	27					0	0	1	0	0
KIAA1467	57613	broad.mit.edu	37	12	13214578	13214578	+	Missense_Mutation	SNP	T	T	A	rs113723432		TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr12:13214578T>A	ENST00000197268.8	+	4	722	c.602T>A	c.(601-603)cTt>cAt	p.L201H		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	201						integral to membrane				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		TGGTCTAGTCTTCTCCCTGAG	0.488000													17	9					0	0	1	0	0
HEPACAM2	253012	broad.mit.edu	37	7	92848776	92848776	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr7:92848776G>A	ENST00000341723.4	-	1	119	c.32C>T	c.(31-33)tCc>tTc	p.S11F	HEPACAM2_ENST00000394468.2_Intron|HEPACAM2_ENST00000440868.1_Missense_Mutation_p.S11F|HEPACAM2_ENST00000453812.2_Intron	NM_198151.1	NP_937794.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	0						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						TGTTGCAAAGGAAAGGAAAGT	0.507000													54	59					0	0	1	0	0
AQP4	361	broad.mit.edu	37	18	24441235	24441235	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr18:24441235G>A	ENST00000383168.4	-	3	600	c.472C>T	c.(472-474)Cat>Tat	p.H158Y	AQP4_ENST00000583022.1_5'UTR|AQP4_ENST00000581374.1_Missense_Mutation_p.H136Y|AQP4_ENST00000440832.3_Missense_Mutation_p.H136Y|AQP4-AS1_ENST00000582605.1_RNA|AQP4-AS1_ENST00000579964.1_RNA	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN	aquaporin 4	158					cellular response to interferon-gamma|excretion|nervous system development	cytoplasm|external side of plasma membrane|integral to plasma membrane	water channel activity			kidney(2)|large_intestine(3)|lung(5)|skin(1)	11	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)					AGGAGACCATGACCAGCGGTA	0.368000													11	46					0	0	1	0	0
COL20A1	57642	broad.mit.edu	37	20	61944506	61944506	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr20:61944506C>T	ENST00000422202.1	+	16	2203	c.2135C>T	c.(2134-2136)cCt>cTt	p.P712L	COL20A1_ENST00000326996.6_Missense_Mutation_p.P705L|COL20A1_ENST00000435874.1_Missense_Mutation_p.P712L|COL20A1_ENST00000358894.6_Missense_Mutation_p.P705L			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	705	Fibronectin type-III 5.				cell adhesion	collagen|extracellular space	structural molecule activity			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)					GCCGTCCTGCCTGGCCTAGGG	0.672000													17	18					0	0	1	0	0
ATG16L2	89849	broad.mit.edu	37	11	72535790	72535790	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:72535790G>A	ENST00000321297.5	+	9	1037	c.899G>A	c.(898-900)aGg>aAg	p.R300K	ATG16L2_ENST00000534905.1_Intron	NM_033388.1	NP_203746.1	Q8NAA4	A16L2_HUMAN	autophagy related 16-like 2 (S. cerevisiae)	300					autophagy|protein transport	cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	14			BRCA - Breast invasive adenocarcinoma(5;2.73e-06)			TTTAAGAAGAGGAGAGGTCAC	0.582000													10	32					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40424009	40424009	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr19:40424009C>T	ENST00000221347.6	-	4	2201	c.2194G>A	c.(2194-2196)Gtt>Att	p.V732I		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	732			V -> A (in dbSNP:rs34181317).			extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CAGTCCCCAACCGAGATGCCA	0.617000													26	34					0	0	1	0	0
FGF23	8074	broad.mit.edu	37	12	4479734	4479734	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr12:4479734G>A	ENST00000237837.1	-	3	676	c.531C>T	c.(529-531)caC>caT	p.H177H		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	177					cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			CGCTCCGGGTGTGCCGCCGTG	0.677000													24	19					0	0	1	0	0
CCDC73	493860	broad.mit.edu	37	11	32720837	32720837	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:32720837T>G	ENST00000531481.1	-	6	626	c.350A>C	c.(349-351)aAa>aCa	p.K117T	CCDC73_ENST00000335185.5_Missense_Mutation_p.K117T|CCDC73_ENST00000534415.1_5'UTR			Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	117										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					TTCTATTTCTTTTTCCTTTAT	0.244000													7	2					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40433356	40433356	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr19:40433356G>A	ENST00000221347.6	-	2	920	c.913C>T	c.(913-915)Ctc>Ttc	p.L305F		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	305	IgGFc-binding.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GACAGGTAGAGTGGCCAGGAT	0.562000													21	20					0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53103890	53103890	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr7:53103890G>A	ENST00000408890.4	+	1	542	c.526G>A	c.(526-528)Gag>Aag	p.E176K		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	176										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CTGCACCCGGGAGACTCTGCT	0.711000													27	13					0	0	1	0	0
SCYL1	57410	broad.mit.edu	37	11	65294493	65294493	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:65294493C>T	ENST00000524944.1	+	6	787	c.754C>T	c.(754-756)Ccc>Tcc	p.P252S	SCYL1_ENST00000420247.2_Missense_Mutation_p.P252S|SCYL1_ENST00000270176.5_Missense_Mutation_p.P252S|SCYL1_ENST00000525364.1_Missense_Mutation_p.P252S|SCYL1_ENST00000279270.6_Missense_Mutation_p.P252S|SCYL1_ENST00000527630.1_Missense_Mutation_p.P252S|SCYL1_ENST00000527009.1_Missense_Mutation_p.P109S|SCYL1_ENST00000533862.1_Missense_Mutation_p.P252S			Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	252	Protein kinase.				regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity			ovary(1)|skin(1)	2						CAAGGTGCGTCCCAACCCAGC	0.602000													32	19					0	0	1	0	0
VEPH1	79674	broad.mit.edu	37	3	157178022	157178022	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:157178022C>T	ENST00000362010.2	-	4	784	c.477G>A	c.(475-477)aaG>aaA	p.K159K	VEPH1_ENST00000392833.2_Silent_p.K159K|VEPH1_ENST00000543418.1_Silent_p.K159K|VEPH1_ENST00000494677.1_Silent_p.K159K|VEPH1_ENST00000392832.2_Silent_p.K159K|VEPH1_ENST00000537559.1_Silent_p.K159K|VEPH1_ENST00000468233.1_Silent_p.K159K	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	159						plasma membrane				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			GGAGATCTGCCTTGGTAATTG	0.458000													71	47					0	0	1	0	0
NDNF	79625	broad.mit.edu	37	4	121957440	121957440	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr4:121957440C>T	ENST00000379692.4	-	4	2212	c.1686G>A	c.(1684-1686)gtG>gtA	p.V562V		NM_024574.3	NP_078850.3	Q8TB73	CD031_HUMAN	neuron-derived neurotrophic factor	562	Fibronectin type-III 2.									breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						TTCTAGTTTTCACAACCTTAC	0.378000													59	53					0	0	1	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74575193	74575193	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:74575193C>T	ENST00000354431.4	-	5	943	c.752G>A	c.(751-753)aGa>aAa	p.R251K	LRRIQ3_ENST00000468759.1_5'UTR|LRRIQ3_ENST00000395089.1_Missense_Mutation_p.R251K|LRRIQ3_ENST00000370909.2_Missense_Mutation_p.R143K	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	251										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TTCATATCCTCTAATAATTTT	0.318000													47	6					0	0	1	0	0
IRAK3	11213	broad.mit.edu	37	12	66603284	66603284	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr12:66603284C>T	ENST00000261233.4	+	3	786	c.365C>T	c.(364-366)cCa>cTa	p.P122L	IRAK3_ENST00000457197.2_Missense_Mutation_p.P61L	NM_007199.2	NP_009130.2	Q9Y616	IRAK3_HUMAN	interleukin-1 receptor-associated kinase 3	122					interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		GGTGGATTTCCAAATATATTA	0.353000													19	18					0	0	1	0	0
BNC1	646	broad.mit.edu	37	15	83935762	83935762	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr15:83935762G>A	ENST00000345382.2	-	3	346	c.261C>T	c.(259-261)tcC>tcT	p.S87S	BNC1_ENST00000569704.1_Silent_p.S80S|RP11-382A20.4_ENST00000565495.1_RNA	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	87					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						ACACTACATTGGACTGGACAA	0.458000													20	39					0	0	1	0	0
SPAG6	9576	broad.mit.edu	37	10	22700094	22700094	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr10:22700094G>A	ENST00000376603.2	+	10	1819	c.1677G>A	c.(1675-1677)gaG>gaA	p.E559E	SPAG6_ENST00000538630.1_Silent_p.E458E|SPAG6_ENST00000376601.1_Silent_p.E244E|SPAG6_ENST00000490361.1_3'UTR|RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000313311.6_Intron|SPAG6_ENST00000376624.3_Silent_p.E483E			O75602	SPAG6_HUMAN	sperm associated antigen 6	483					cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						GTTACCCCGAGGAAATAGTGA	0.358000													17	3					0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70633954	70633954	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr14:70633954A>T	ENST00000381269.2	-	2	1939	c.1186T>A	c.(1186-1188)Tcc>Acc	p.S396T	SLC8A3_ENST00000357887.3_Missense_Mutation_p.S396T|SLC8A3_ENST00000356921.2_Missense_Mutation_p.S396T|SLC8A3_ENST00000528359.1_Missense_Mutation_p.S396T|SLC8A3_ENST00000534137.1_Missense_Mutation_p.S396T	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	396	Calx-beta 1.				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		AAGACCTTGGAAATAAAGTCC	0.517000													26	61					0	0	1	0	0
RBBP8NL	140893	broad.mit.edu	37	20	60986024	60986024	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr20:60986024C>T	ENST00000252998.1	-	14	2061	c.1905G>A	c.(1903-1905)agG>agA	p.R635R		NM_080833.2	NP_543023.2			RBBP8 N-terminal like																		CTGTCAGTTTCCTTCTCCCTC	0.637000													74	128					0	0	1	0	0
DLC1	10395	broad.mit.edu	37	8	13162787	13162787	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr8:13162787C>T	ENST00000276297.4	-	5	1748	c.1339G>A	c.(1339-1341)Gaa>Aaa	p.E447K	DLC1_ENST00000511869.1_Missense_Mutation_p.E447K|DLC1_ENST00000316609.5_Missense_Mutation_p.E447K	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	447					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						CCAGCCTTTTCCTTCTCTGAA	0.284000													21	38					0	0	1	0	0
MYH11	4629	broad.mit.edu	37	16	15820735	15820735	+	Silent	SNP	C	C	T	rs113154524	byFrequency	TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr16:15820735C>T	ENST00000338282.6	-	28	3934	c.3828G>A	c.(3826-3828)gcG>gcA	p.A1276A	MYH11_ENST00000576790.1_Silent_p.A1276A|MYH11_ENST00000396324.3_Silent_p.A1283A|MYH11_ENST00000452625.2_Silent_p.A1283A|MYH11_ENST00000300036.5_Silent_p.A1276A|AF001548.5_ENST00000574212.1_RNA	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1276					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			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						CATTGAGCTCCGCCCGGGCCC	0.637000			T	CBFB	AML								49	63					0	0	1	0	0
OR4A15	81328	broad.mit.edu	37	11	55136373	55136373	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:55136373G>A	ENST00000314706.3	+	1	1014	c.1014G>A	c.(1012-1014)ggG>ggA	p.G338G		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	338					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G338G(1)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						GCTTAGCTGGGAAATGGCTGT	0.368000													47	31					0	0	1	0	0
ATP6V0A2	23545	broad.mit.edu	37	12	124228357	124228357	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr12:124228357C>T	ENST00000330342.3	+	10	1312	c.1064C>T	c.(1063-1065)tCa>tTa	p.S355L		NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	355					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		ACAATCCCCTCATTCATGAAT	0.413000													48	37					0	0	1	0	0
IFNA14	3448	broad.mit.edu	37	9	21239370	21239370	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr9:21239370C>T	ENST00000380222.2	-	1	608	c.565G>A	c.(565-567)Gat>Aat	p.D189N		NM_002172.2	NP_002163.2	P01570	IFN14_HUMAN	interferon, alpha 14	189					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)	11				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		AGTTTTCAATCCTTCCTCCTT	0.388000													148	25					0	0	1	0	0
CNTN1	1272	broad.mit.edu	37	12	41422955	41422955	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr12:41422955T>A	ENST00000551295.2	+	23	3031	c.2914T>A	c.(2914-2916)Tac>Aac	p.Y972N	CNTN1_ENST00000348761.2_Missense_Mutation_p.Y961N|CNTN1_ENST00000347616.1_Missense_Mutation_p.Y972N	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	972	Fibronectin type-III 4.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				AGATGGAGAATACGTTGTGGA	0.448000													30	76					0	0	1	0	0
DMWD	1762	broad.mit.edu	37	19	46289185	46289185	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr19:46289185G>A	ENST00000593999.1	-	1	46	c.47C>T	c.(46-48)tCg>tTg	p.S16L	DMWD_ENST00000270223.6_Silent_p.F523F|DMWD_ENST00000377735.3_Silent_p.F523F																							TGAGCGTGGCGAAGCGGCCAA	0.706000													23	31					0	0	1	0	0
OR1F2P	26184	broad.mit.edu	37	16	3265590	3265590	+	RNA	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr16:3265590C>T	ENST00000576468.1	+	0	418																											TCACTGTCTTCTATGCAGCTG	0.488000													9	8					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25227242	25227242	+	RNA	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr15:25227242C>T	ENST00000551631.2	+	0	545				SNHG14_ENST00000551361.1_RNA	NR_001293.1																						CTAGACTTTTCGATTTCAAGA	0.348000													66	60					0	0	1	0	0
TLR1	7096	broad.mit.edu	37	4	38798172	38798172	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr4:38798172C>T	ENST00000308979.2	-	4	2554	c.2281G>A	c.(2281-2283)Gaa>Aaa	p.E761K	TLR1_ENST00000502213.2_Missense_Mutation_p.E761K	NM_003263.3	NP_003254.2	Q15399	TLR1_HUMAN	toll-like receptor 1	761	TIR.				cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						TTGCTCTTTTCCTTGGGCCAT	0.433000													27	36					0	0	1	0	0
HOXA4	3201	broad.mit.edu	37	7	27168930	27168930	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr7:27168930G>A	ENST00000360046.5	-	2	942	c.877C>T	c.(877-879)Cca>Tca	p.P293S	HOXA4_ENST00000428284.2_Missense_Mutation_p.P293S|HOXA-AS2_ENST00000521159.1_RNA|HOXA3_ENST00000467897.2_5'UTR	NM_002141.4	NP_002132.3	Q00056	HXA4_HUMAN	homeobox A4	293						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)	12						TTCCCTGGTGGGCCGGCAGAG	0.562000													40	32					0	0	1	0	0
TAX1BP3	30851	broad.mit.edu	37	17	3567173	3567173	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr17:3567173C>T	ENST00000225525.3	-	4	399	c.244G>A	c.(244-246)Ggc>Agc	p.G82S	RP11-48B14.2_ENST00000550383.1_3'UTR	NM_014604.3	NP_055419.1	O14907	TX1B3_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 3	82	PDZ.				activation of Cdc42 GTPase activity|negative regulation of protein localization at cell surface|negative regulation of Wnt receptor signaling pathway|Rho protein signal transduction|Wnt receptor signaling pathway	cytoplasm|nucleus	protein C-terminus binding			endometrium(1)	1				COAD - Colon adenocarcinoma(5;0.0761)		ATGTCCCAGCCGTTCACCTGG	0.652000													16	2					0	0	1	0	0
DBH	1621	broad.mit.edu	37	9	136513031	136513031	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr9:136513031G>A	ENST00000393056.2	+	6	1100	c.1088G>A	c.(1087-1089)gGg>gAg	p.G363E		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	363					hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	TTCAACGCGGGGATCATGGAG	0.602000													17	5					0	0	1	0	0
LIMCH1	22998	broad.mit.edu	37	4	41621392	41621392	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr4:41621392G>A	ENST00000313860.7	+	8	924	c.870G>A	c.(868-870)gaG>gaA	p.E290E	LIMCH1_ENST00000512632.1_Silent_p.E290E|LIMCH1_ENST00000509638.1_Silent_p.E131E|LIMCH1_ENST00000513024.1_Silent_p.E131E|LIMCH1_ENST00000381753.4_Silent_p.E136E|LIMCH1_ENST00000396595.3_Silent_p.E136E|LIMCH1_ENST00000514096.1_Silent_p.E143E|LIMCH1_ENST00000511496.1_Silent_p.E131E|LIMCH1_ENST00000503057.1_Silent_p.E131E|LIMCH1_ENST00000508501.1_Silent_p.E290E|LIMCH1_ENST00000512820.1_Silent_p.E290E|LIMCH1_ENST00000509277.1_Silent_p.E136E|LIMCH1_ENST00000512946.1_Silent_p.E290E|LIMCH1_ENST00000509454.1_Silent_p.E138E	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	290					actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						AGAAAGCAGAGAGAGAGGAAT	0.582000													30	48					0	0	1	0	0
SEMA5A	9037	broad.mit.edu	37	5	9044558	9044558	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr5:9044558G>A	ENST00000382496.5	-	22	3697	c.3032C>T	c.(3031-3033)cCt>cTt	p.P1011L	CTD-2215L10.1_ENST00000506519.1_RNA	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	1011					cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						AAGGGGGGCAGGTGAGACGGG	0.517000													72	64					0	0	1	0	0
TAAR1	134864	broad.mit.edu	37	6	132966164	132966164	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr6:132966164C>T	ENST00000275216.1	-	1	978	c.979G>A	c.(979-981)Gat>Aat	p.D327N		NM_138327.1	NP_612200.1	Q96RJ0	TAAR1_HUMAN	trace amine associated receptor 1	327						plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)	18	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	Amphetamine(DB00182)	CTGGATGAATCTTTTTGGAAA	0.289000													12	10					0	0	1	0	0
UPB1	51733	broad.mit.edu	37	22	24921762	24921762	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr22:24921762G>A	ENST00000413389.2	+	10	2544	c.951G>A	c.(949-951)taG>taA	p.*317*	UPB1_ENST00000326010.5_Silent_p.*385*|UPB1_ENST00000498140.1_3'UTR			Q9UBR1	BUP1_HUMAN	ureidopropionase, beta	0	CN hydrolase.				pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	beta-ureidopropionase activity|metal ion binding			endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	22	Colorectal(2;0.0339)					TGAAAGAGTAGCCGGCTTCAG	0.542000											OREG0026412	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	71	58					0	0	1	0	0
NETO1	81832	broad.mit.edu	37	18	70417353	70417353	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr18:70417353G>A	ENST00000327305.6	-	9	2142	c.1485C>T	c.(1483-1485)atC>atT	p.I495I	NETO1_ENST00000299430.2_Silent_p.I494I|NETO1_ENST00000583169.1_Silent_p.I495I	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	495					memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	p.I495I(1)		NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		GCACCTCTTCGATTTCATCTA	0.468000													34	7					0	0	1	0	0
ATM	472	broad.mit.edu	37	11	108235906	108235906	+	Missense_Mutation	SNP	C	C	G			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:108235906C>G	ENST00000278616.4	+	62	9333	c.8948C>G	c.(8947-8949)aCt>aGt	p.T2983S	C11orf65_ENST00000525729.1_Intron|C11orf65_ENST00000526725.1_Intron|ATM_ENST00000525178.1_3'UTR|ATM_ENST00000452508.2_Missense_Mutation_p.T2983S	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	2983					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		CTTCACCCTACTCTGAATGCA	0.418000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			5	74					0	0	1	0	0
ZNF783	100289678	broad.mit.edu	37	7	148979285	148979285	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr7:148979285C>T	ENST00000434415.1	+	6	1655	c.1492C>T	c.(1492-1494)Cag>Tag	p.Q498*	ZNF783_ENST00000489518.1_Intron	NM_001195220.1	NP_001182149.1	C9J9J2	C9J9J2_HUMAN	zinc finger family member 783	498					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.0014)			CCAGTGCCCCCAGTGTGGCCG	0.731000													19	40					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179499171	179499171	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:179499171C>T	ENST00000589042.1	-	230	42561	c.42337G>A	c.(42337-42339)Gat>Aat	p.D14113N	TTN_ENST00000342175.6_Missense_Mutation_p.D5240N|TTN_ENST00000591111.1_Missense_Mutation_p.D12472N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D5048N|TTN_ENST00000342992.6_Missense_Mutation_p.D11545N|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D5173N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12472							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			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)			AATTGAGAATCATTAATAACA	0.393000													20	17					0	0	1	0	0
GIMAP4	55303	broad.mit.edu	37	7	150269390	150269390	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr7:150269390G>A	ENST00000255945.2	+	3	407	c.232G>A	c.(232-234)Gaa>Aaa	p.E78K	GIMAP4_ENST00000494750.1_3'UTR|GIMAP4_ENST00000461940.1_Missense_Mutation_p.E92K	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	78							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTCATGGAAGGAAACAGAACT	0.478000													31	23					0	0	1	0	0
GDAP1L1	78997	broad.mit.edu	37	20	42885826	42885826	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr20:42885826T>G	ENST00000342560.5	+	2	302	c.214T>G	c.(214-216)Tgc>Ggc	p.C72G	GDAP1L1_ENST00000537864.1_Intron|GDAP1L1_ENST00000372952.3_Missense_Mutation_p.C72G	NM_001256737.1|NM_024034.4	NP_001243666.1|NP_076939.3	Q96MZ0	GD1L1_HUMAN	ganglioside induced differentiation associated protein 1-like 1	72	GST N-terminal.									endometrium(1)|large_intestine(5)|lung(10)|pancreas(1)|prostate(1)	18		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GGGCCTGGTGTGCGAGGAGCG	0.697000													5	11					0	0	1	0	0
PRSS33	260429	broad.mit.edu	37	16	2836100	2836100	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr16:2836100C>T	ENST00000576886.1	-	2	362	c.69G>A	c.(67-69)agG>agA	p.R23R	PRSS33_ENST00000293851.5_Silent_p.R23R|PRSS33_ENST00000570702.1_Silent_p.R23R			Q8NF86	PRS33_HUMAN	protease, serine, 33	23					proteolysis		serine-type endopeptidase activity			prostate(1)	1						CTGCAGACTTCCTTCCCTGAG	0.612000													22	29					0	0	1	0	0
OR1M1	125963	broad.mit.edu	37	19	9204576	9204576	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr19:9204576C>T	ENST00000429566.3	+	1	722	c.656C>T	c.(655-657)gCt>gTt	p.A219V		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						GCCTCCTATGCTCGCATCCTT	0.557000													43	65					0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48629399	48629399	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:48629399G>A	ENST00000328333.8	-	10	1396	c.1289C>T	c.(1288-1290)tCc>tTc	p.S430F	COL7A1_ENST00000454817.1_Missense_Mutation_p.S430F	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	430	Fibronectin type-III 3.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AAGGAGGATGGATGTGGGGCC	0.657000													19	93					0	0	1	0	0
GREB1	9687	broad.mit.edu	37	2	11702663	11702663	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:11702663C>T	ENST00000381486.2	+	3	532	c.232C>T	c.(232-234)Cct>Tct	p.P78S	GREB1_ENST00000389825.3_5'UTR|GREB1_ENST00000263834.5_Missense_Mutation_p.P78S|GREB1_ENST00000381483.2_Missense_Mutation_p.P78S|GREB1_ENST00000234142.5_Missense_Mutation_p.P78S	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	78						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CCCCCCAAACCCTTTCCAGCT	0.597000													49	75					0	0	1	0	0
WBP1L	54838	broad.mit.edu	37	10	104572878	104572878	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr10:104572878C>T	ENST00000369889.4	+	4	961	c.819C>T	c.(817-819)atC>atT	p.I273I	WBP1L_ENST00000448841.1_Silent_p.I294I	NM_017787.4	NP_060257.4	Q9NX94	OPA1L_HUMAN	WW domain binding protein 1-like	273						integral to membrane											ACACACTCATCGATGATGCTC	0.592000													45	11					0	0	1	0	0
FGF7	2252	broad.mit.edu	37	15	49716677	49716677	+	Silent	SNP	A	A	G			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr15:49716677A>G	ENST00000267843.4	+	2	794	c.183A>G	c.(181-183)ggA>ggG	p.G61G	FAM227B_ENST00000561064.1_Intron|FAM227B_ENST00000299338.6_Intron|FGF7_ENST00000560270.1_Silent_p.G61G	NM_002009.3	NP_002000.1	P21781	FGF7_HUMAN	fibroblast growth factor 7	61					actin cytoskeleton reorganization|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization at cell surface|secretion by lung epithelial cell involved in lung growth		chemoattractant activity|growth factor activity			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		all_lung(180;0.00391)		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)	Palifermin(DB00039)	ACATGGAAGGAGGGGATATAA	0.423000													51	70					0	0	1	0	0
FOXI1	2299	broad.mit.edu	37	5	169535244	169535244	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr5:169535244T>A	ENST00000306268.6	+	2	827	c.766T>A	c.(766-768)Tca>Aca	p.S256T	FOXI1_ENST00000449804.2_Intron			Q12951	FOXI1_HUMAN	forkhead box I1	256					epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	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|transcription regulatory region DNA binding			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGATGGAGCCTCACCAGGGGG	0.607000									Pendred syndrome				52	71					0	0	1	0	0
ADAM11	4185	broad.mit.edu	37	17	42854278	42854278	+	Nonsense_Mutation	SNP	C	C	G			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr17:42854278C>G	ENST00000200557.6	+	20	1798	c.1629C>G	c.(1627-1629)taC>taG	p.Y543*	ADAM11_ENST00000535346.1_Nonsense_Mutation_p.Y343*	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	543	Cys-rich.				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				GCCGCTGCTACGGAGGTCGCT	0.612000													111	28					0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17436140	17436140	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:17436140G>A	ENST00000302539.4	-	19	2437	c.2312C>T	c.(2311-2313)gCc>gTc	p.A771V	ABCC8_ENST00000389817.3_Missense_Mutation_p.A770V	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	770	ABC transporter 1.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CGAAGCATAGGCCACGGGGCC	0.547000													86	35					0	0	1	0	0
ACSM4	341392	broad.mit.edu	37	12	7475049	7475049	+	Missense_Mutation	SNP	G	G	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr12:7475049G>T	ENST00000399422.4	+	7	1085	c.1037G>T	c.(1036-1038)gGa>gTa	p.G346V		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	346					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						TGCTTGACCGGAGGGGAGCCA	0.502000													13	12					2.68362e-12	2.69217e-12	1	1	0
TMTC4	84899	broad.mit.edu	37	13	101315335	101315335	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr13:101315335G>A	ENST00000342624.5	-	5	693	c.435C>T	c.(433-435)ttC>ttT	p.F145F	TMTC4_ENST00000328767.5_Intron|TMTC4_ENST00000376234.3_Silent_p.F126F	NM_032813.2	NP_116202.2	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	126						integral to membrane	binding			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					ACAGAACCGAGAAGACGTCCA	0.612000													49	195					0	0	1	0	0
ADAM29	11086	broad.mit.edu	37	4	175896841	175896841	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr4:175896841C>T	ENST00000359240.3	+	5	835	c.165C>T	c.(163-165)atC>atT	p.I55I	ADAM29_ENST00000404450.4_Silent_p.I55I|ADAM29_ENST00000514159.1_Silent_p.I55I|ADAM29_ENST00000445694.1_Silent_p.I55I	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	55					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TCTCCTATATCCTGCCCTTTG	0.512000													14	17					0	0	1	0	0
MEIS2	4212	broad.mit.edu	37	15	37387812	37387812	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr15:37387812G>A	ENST00000338564.5	-	5	837	c.391C>T	c.(391-393)Cgc>Tgc	p.R131C	MEIS2_ENST00000219869.9_5'UTR|MEIS2_ENST00000561208.1_Missense_Mutation_p.R131C|MEIS2_ENST00000559561.1_Missense_Mutation_p.R131C|MEIS2_ENST00000559085.1_Missense_Mutation_p.R118C|MEIS2_ENST00000557796.2_Missense_Mutation_p.R118C|MEIS2_ENST00000444725.1_Missense_Mutation_p.R131C|MEIS2_ENST00000424352.2_Missense_Mutation_p.R131C|MEIS2_ENST00000397624.3_Missense_Mutation_p.R43C|MEIS2_ENST00000397620.2_Missense_Mutation_p.R43C|MEIS2_ENST00000382766.2_Missense_Mutation_p.R131C|MEIS2_ENST00000340545.5_Missense_Mutation_p.R118C	NM_001220482.1	NP_001207411.1	O14770	MEIS2_HUMAN	Meis homeobox 2	131					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		TTTTCGGCGCGAACCTGTAAG	0.478000													30	36					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89971215	89971215	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr5:89971215G>A	ENST00000405460.2	+	24	5362	c.5266G>A	c.(5266-5268)Gaa>Aaa	p.E1756K	GPR98_ENST00000450321.2_3'UTR	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1756					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GGTGACTGCGGAATTTAGAAC	0.453000													24	13					0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1254293	1254293	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr16:1254293G>A	ENST00000348261.5	+	10	2534	c.2286G>A	c.(2284-2286)cgG>cgA	p.R762R	CACNA1H_ENST00000565831.1_Silent_p.R762R|CACNA1H_ENST00000358590.4_Silent_p.R762R	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	762					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	CCCAGCGGCGGGCACAGCAGA	0.706000													14	11					0	0	1	0	0
CD101	9398	broad.mit.edu	37	1	117556281	117556281	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:117556281C>T	ENST00000256652.4	+	4	1153	c.1095C>T	c.(1093-1095)ttC>ttT	p.F365F	CD101_ENST00000369470.1_Silent_p.F365F	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	365	Ig-like C2-type 3.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TCAAGATCTTCTCTCTGGGCC	0.522000													71	4					0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11145668	11145668	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr19:11145668C>T	ENST00000358026.2	+	29	4314	c.4030C>T	c.(4030-4032)Ccc>Tcc	p.P1344S	SMARCA4_ENST00000450717.3_Missense_Mutation_p.P1311S|SMARCA4_ENST00000541122.2_Missense_Mutation_p.P1311S|SMARCA4_ENST00000444061.3_Missense_Mutation_p.P1311S|SMARCA4_ENST00000429416.3_Missense_Mutation_p.P1344S|SMARCA4_ENST00000344626.4_Missense_Mutation_p.P1344S|SMARCA4_ENST00000413806.3_Missense_Mutation_p.P1311S|SMARCA4_ENST00000590574.1_Missense_Mutation_p.P1311S|SMARCA4_ENST00000589677.1_Missense_Mutation_p.P1311S	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1344					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.?(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)				GGACGAGCTCCCCTCGTGGAT	0.687000			"""F, N, Mis"""		NSCLC								10	15					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152187880	152187880	+	Silent	SNP	T	T	G			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:152187880T>G	ENST00000368801.2	-	3	6300	c.6225A>C	c.(6223-6225)tcA>tcC	p.S2075S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2075					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGACTGCCTTGACCCAGACC	0.627000													231	23					0	0	1	0	0
ADCY5	111	broad.mit.edu	37	3	123014940	123014940	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:123014940C>T	ENST00000462833.1	-	17	4266	c.3054G>A	c.(3052-3054)tgG>tgA	p.W1018*	ADCY5_ENST00000309879.5_Nonsense_Mutation_p.W668*|ADCY5_ENST00000491190.1_Nonsense_Mutation_p.W676*	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	1018					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			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)		CCTGCAGTTTCCAGAGGAAGT	0.642000													29	13					0	0	1	0	0
GRIFIN	402635	broad.mit.edu	37	7	2515333	2515333	+	RNA	SNP	A	A	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr7:2515333A>T	ENST00000417742.1	-	0	379									galectin-related inter-fiber protein														Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;3.23e-14)		GCCAGCGGGAAGATGCTAGAC	0.692000													6	1					0	0	1	0	0
KLF10	7071	broad.mit.edu	37	8	103663574	103663574	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr8:103663574G>A	ENST00000395884.3	-	3	1855	c.953C>T	c.(952-954)tCa>tTa	p.S318L	KLF10_ENST00000285407.6_Missense_Mutation_p.S329L	NM_001032282.2	NP_001027453.1	Q13118	KLF10_HUMAN	Kruppel-like factor 10	329					cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3)	18	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)			CGGAGGCTTTGAACTCTGCAC	0.577000													79	111					0	0	1	0	0
PCDHA8	56140	broad.mit.edu	37	5	140222345	140222345	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr5:140222345G>A	ENST00000531613.1	+	1	1439	c.1439G>A	c.(1438-1440)cGa>cAa	p.R480Q	PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.R480Q|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGTCTGCGCGAGACGCGGAC	0.652000													37	202					0	0	1	0	0
SPN	6693	broad.mit.edu	37	16	29675913	29675913	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr16:29675913C>T	ENST00000360121.3	+	2	956	c.864C>T	c.(862-864)ctC>ctT	p.L288L	SPN_ENST00000395389.2_Silent_p.L288L|AC009133.19_ENST00000449759.1_Intron	NM_001030288.2|NM_003123.4	NP_001025459.1|NP_003114.1	P16150	LEUK_HUMAN	sialophorin	288					blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process	extracellular space|integral to plasma membrane	bacterial cell surface binding|transmembrane receptor activity			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1)	15						CTGGGGCCCTCGTGCTGAGCA	0.706000													5	5					0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86493599	86493599	+	Splice_Site	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr7:86493599C>T	ENST00000361669.2	+	6	3667	c.2566_splice	c.e6-1	p.S856_splice	GRM3_ENST00000394720.2_Splice_Site_p.L499_splice|GRM3_ENST00000536043.1_Splice_Site_p.S728_splice|GRM3_ENST00000546348.1_Splice_Site_p.S448_splice|GRM3_ENST00000439827.1_Splice_Site_p.L501_splice	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	856				S -> Y (in Ref. 3; AAH22496).	synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GTTTTCCAGCCTCTGCAAGCA	0.488000													38	34					0	0	1	0	0
IMMP2L	83943	broad.mit.edu	37	7	111161452	111161452	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr7:111161452C>T	ENST00000405709.2	-	2	494	c.52G>A	c.(52-54)Ggc>Agc	p.G18S	IMMP2L_ENST00000452895.1_Missense_Mutation_p.G18S|IMMP2L_ENST00000447215.1_Missense_Mutation_p.G18S|IMMP2L_ENST00000437687.1_Missense_Mutation_p.G18S|IMMP2L_ENST00000415362.1_Missense_Mutation_p.G18S|IMMP2L_ENST00000331762.3_Missense_Mutation_p.G18S	NM_032549.3	NP_115938.1	Q96T52	IMP2L_HUMAN	IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae)	18					protein processing involved in protein targeting to mitochondrion|proteolysis	integral to membrane|mitochondrial inner membrane peptidase complex|nucleus	serine-type peptidase activity			endometrium(3)|large_intestine(6)|lung(5)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.053)|Epithelial(3;2.27e-07)|all cancers(3;1.36e-05)|STAD - Stomach adenocarcinoma(3;0.00148)|KIRC - Kidney renal clear cell carcinoma(11;0.0339)|Lung(3;0.0375)|Kidney(11;0.0415)|LUSC - Lung squamous cell carcinoma(290;0.173)		ACAAAGAAGCCTTTACAAAAG	0.438000													54	34					0	0	1	0	0
PCDHA10	56139	broad.mit.edu	37	5	140235907	140235907	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr5:140235907G>A	ENST00000307360.5	+	1	274	c.274G>A	c.(274-276)Gag>Aag	p.E92K	PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.E92K|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATTGACCGCGAGGAGCTGTG	0.577000													83	516					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155295099	155295099	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr4:155295099C>T	ENST00000357232.3	-	4	434	c.435G>A	c.(433-435)caG>caA	p.Q145Q	DCHS2_ENST00000339452.1_Intron	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	145	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GTGTCATTCTCTGCTCATCCT	0.348000													37	32					0	0	1	0	0
XKRX	402415	broad.mit.edu	37	X	100169977	100169977	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chrX:100169977G>A	ENST00000328526.5	-	3	1304	c.739C>T	c.(739-741)Cgc>Tgc	p.R247C	XKRX_ENST00000468904.1_3'UTR|XKRX_ENST00000372956.2_Missense_Mutation_p.R234C	NM_212559.2	NP_997724.2	Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related, X-linked	234						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						GGCCCAAGGCGAATCTTGTAG	0.483000													53	6					0	0	1	0	0
OR2S2	56656	broad.mit.edu	37	9	35957893	35957893	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr9:35957893G>A	ENST00000341959.2	-	1	258	c.203C>T	c.(202-204)tCc>tTc	p.S68F		NM_019897.2	NP_063950.2	Q9NQN1	OR2S1_HUMAN	olfactory receptor, family 2, subfamily S, member 2	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(32;0.00613)|STAD - Stomach adenocarcinoma(86;0.194)			GTCCAGGAAGGAGAGGTTCCC	0.562000													22	2					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9067219	9067219	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr19:9067219G>A	ENST00000397910.4	-	3	20430	c.20227C>T	c.(20227-20229)Ctt>Ttt	p.L6743F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6745	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTAGAGCCAAGAGGAGGACCT	0.502000													89	108					0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212251872	212251872	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:212251872G>A	ENST00000342788.4	-	27	3497	c.3187C>T	c.(3187-3189)Cag>Tag	p.Q1063*	ERBB4_ENST00000436443.1_Nonsense_Mutation_p.Q1047*|ERBB4_ENST00000402597.1_Nonsense_Mutation_p.Q1053*	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	1063					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		TATACAAACTGGTTCTGTTAA	0.428000										TSP Lung(8;0.080)			23	71					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1270358	1270358	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:1270358G>A	ENST00000447027.1	+	31	12315	c.12257G>A	c.(12256-12258)gGg>gAg	p.G4086E	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.G4083E			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4083	7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCTTCCCCAGGGACGACCACC	0.701000													19	90					0	0	1	0	0
CXCL9	4283	broad.mit.edu	37	4	76924823	76924823	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr4:76924823C>T	ENST00000264888.5	-	4	344	c.306G>A	c.(304-306)ggG>ggA	p.G102G	RP11-630D6.5_ENST00000501239.2_RNA	NM_002416.1	NP_002407.1	Q07325	CXCL9_HUMAN	chemokine (C-X-C motif) ligand 9	102					cell-cell signaling|cellular defense response|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response	extracellular space	chemokine activity			large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(1)	11			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GATGTTTTTTCCCATTCTTTT	0.348000													10	25					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228883717	228883717	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:228883717C>T	ENST00000392056.3	-	7	1899	c.1853G>A	c.(1852-1854)gGa>gAa	p.G618E	SPHKAP_ENST00000344657.5_Missense_Mutation_p.G618E	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	618						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CTTGAGCAATCCCTTGGCAAT	0.522000													9	7					0	0	1	0	0
GTPBP6	8225	broad.mit.edu	37	X	224139	224139	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chrX:224139G>A	ENST00000326153.4	-	5	627	c.628C>T	c.(628-630)Ctg>Ttg	p.L210L				O43824	GTPB6_HUMAN	GTP binding protein 6 (putative)	439						intracellular	GTP binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)	7		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TGGCCCCGCAGGGCAGACACG	0.672000													9	15					0	0	1	0	0
PLCXD2	257068	broad.mit.edu	37	3	111432869	111432869	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:111432869C>T	ENST00000393934.3	+	3	1330	c.760C>T	c.(760-762)Cgg>Tgg	p.R254W	PLCXD2_ENST00000477665.1_Missense_Mutation_p.R254W|PLCXD2_ENST00000472215.1_3'UTR	NM_153268.3	NP_695000.1	Q0VAA5	PLCX2_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 2	254					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						TCTGAGTGAGCGGGCCTCACG	0.592000													4	67					0	0	1	0	0
TRIM3	10612	broad.mit.edu	37	11	6472141	6472141	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:6472141G>A	ENST00000525074.1	-	9	2245	c.1851C>T	c.(1849-1851)gcC>gcT	p.A617A	TRIM3_ENST00000536344.1_Silent_p.A498A|TRIM3_ENST00000345851.3_Silent_p.A617A|TRIM3_ENST00000359518.3_Silent_p.A617A|TRIM3_ENST00000537602.1_Silent_p.A539A	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	617					nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCGGTCAGTGGCCCCACGGC	0.547000													32	21					0	0	1	0	0
NRCAM	4897	broad.mit.edu	37	7	107871528	107871528	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr7:107871528G>A	ENST00000379028.3	-	8	967	c.497C>T	c.(496-498)cCc>cTc	p.P166L	NRCAM_ENST00000379022.4_Missense_Mutation_p.P166L|NRCAM_ENST00000379024.4_Missense_Mutation_p.P166L|NRCAM_ENST00000413765.2_Missense_Mutation_p.P166L|NRCAM_ENST00000425651.2_Missense_Mutation_p.P166L|NRCAM_ENST00000351718.4_Missense_Mutation_p.P160L			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	166	Ig-like 2.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						GGGTCTGCAGGGAAGTACTAA	0.323000													19	27					0	0	1	0	0
AP3D1	8943	broad.mit.edu	37	19	2129146	2129146	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr19:2129146G>A	ENST00000355272.6	-	8	955	c.749C>T	c.(748-750)cCt>cTt	p.P250L	AP3D1_ENST00000590683.1_5'UTR|AP3D1_ENST00000350812.6_Intron|AP3D1_ENST00000356926.4_Intron|AP3D1_ENST00000345016.5_Missense_Mutation_p.P250L	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	250					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		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)		CGGTTCCAAAGGAGTAAGAGC	0.687000													5	3					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31319518	31319518	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr18:31319518C>T	ENST00000269197.5	+	11	2150	c.2150C>T	c.(2149-2151)tCa>tTa	p.S717L		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	717	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TCAGAAACCTCACCGATGTCT	0.408000													198	83					0	0	1	0	0
RASGRP3	25780	broad.mit.edu	37	2	33740224	33740224	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:33740224G>A	ENST00000403687.3	+	3	761	c.21G>A	c.(19-21)ggG>ggA	p.G7G	RASGRP3_ENST00000407811.1_Silent_p.G7G|RASGRP3_ENST00000402538.3_Silent_p.G7G	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	7	N-terminal Ras-GEF.				MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					GTGGCCTTGGGAAAGCAGCAA	0.428000													54	71					0	0	1	0	0
CCDC158	339965	broad.mit.edu	37	4	77247092	77247092	+	Silent	SNP	T	T	C			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr4:77247092T>C	ENST00000388914.3	-	22	3227	c.3075A>G	c.(3073-3075)ctA>ctG	p.L1025L		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	1025	Ser-rich.									breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						CTGAACTAGTTAGGAGTGAGT	0.368000													89	68					0	0	1	0	0
TPH2	121278	broad.mit.edu	37	12	72388284	72388284	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr12:72388284C>T	ENST00000333850.3	+	8	1148	c.1007C>T	c.(1006-1008)tCa>tTa	p.S336L		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	336					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			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)	GCTCAGTTTTCACAAGAAATA	0.408000													21	32					0	0	1	0	0
OR5AU1	390445	broad.mit.edu	37	14	21623858	21623858	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr14:21623858G>A	ENST00000304418.3	-	1	364	c.327C>T	c.(325-327)ccC>ccT	p.P109P		NM_001004731.1	NP_001004731.1	Q8NGC0	O5AU1_HUMAN	olfactory receptor, family 5, subfamily AU, member 1	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21	all_cancers(95;0.00238)		Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)		GGGAGTACATGGGTGTGTGCA	0.562000													8	25					0	0	1	0	0
TRAT1	50852	broad.mit.edu	37	3	108568024	108568024	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:108568024G>A	ENST00000295756.6	+	5	456	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K	TRAT1_ENST00000426646.1_Missense_Mutation_p.E39K	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1	76					cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						ACCAATGGATGAAAATTGCTA	0.343000													7	35					0	0	1	0	0
SNX20	124460	broad.mit.edu	37	16	50707490	50707490	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr16:50707490G>A	ENST00000330943.4	-	4	949	c.778C>T	c.(778-780)Cgg>Tgg	p.R260W	SNX20_ENST00000423026.2_Intron|SNX20_ENST00000300590.3_Intron	NM_182854.2	NP_878274.1	Q7Z614	SNX20_HUMAN	sorting nexin 20	260					cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding			kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						TGGCCCTCCCGGGCCTGCAGG	0.726000													17	37					0	0	1	0	0
SMC1B	27127	broad.mit.edu	37	22	45795179	45795179	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr22:45795179T>A	ENST00000357450.4	-	6	908	c.909A>T	c.(907-909)gaA>gaT	p.E303D	SMC1B_ENST00000404354.3_Missense_Mutation_p.E303D	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	303					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GAGAAGTGTTTTCTTTGGCTT	0.338000													43	32					0	0	1	0	0
SLC6A12	6539	broad.mit.edu	37	12	301808	301808	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr12:301808A>T	ENST00000428720.1	-	15	2280	c.1537T>A	c.(1537-1539)Ttc>Atc	p.F513I	SLC6A12_ENST00000397296.2_Missense_Mutation_p.F513I|SLC6A12_ENST00000359674.4_Missense_Mutation_p.F513I|SLC6A12_ENST00000424061.2_Missense_Mutation_p.F513I|SLC6A12_ENST00000536824.1_Missense_Mutation_p.F513I	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	513					cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			GAGAAGAGGAAAGTGGCCTGG	0.567000													16	24					0	0	1	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58563962	58563962	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr19:58563962G>A	ENST00000282326.1	+	5	817	c.570G>A	c.(568-570)gcG>gcA	p.A190A		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	190					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		ACACCAGGGCGGAGGCCGAAG	0.612000													33	24					0	0	1	0	0
RAET1K	646024	broad.mit.edu	37	6	150322712	150322712	+	RNA	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr6:150322712G>A	ENST00000533735.1	-	0	164					NR_024045.1																						TGAAGAAAAGGCCTTTCATCC	0.443000													22	49					0	0	1	0	0
BCL2L14	79370	broad.mit.edu	37	12	12232540	12232540	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr12:12232540G>A	ENST00000266434.4	+	2	496	c.301G>A	c.(301-303)Gag>Aag	p.E101K	BCL2L14_ENST00000308721.5_Missense_Mutation_p.E101K|BCL2L14_ENST00000396369.1_Missense_Mutation_p.E101K|BCL2L14_ENST00000589718.1_Missense_Mutation_p.E101K|BCL2L14_ENST00000396367.1_Missense_Mutation_p.E101K|BCL2L14_ENST00000586576.1_Missense_Mutation_p.E134K	NM_030766.1	NP_110393.1	Q9BZR8	B2L14_HUMAN	BCL2-like 14 (apoptosis facilitator)	101					apoptosis|regulation of apoptosis	cytosol|endomembrane system|intracellular organelle|membrane	protein binding			large_intestine(1)|lung(2)|skin(3)	6		Prostate(47;0.0872)		BRCA - Breast invasive adenocarcinoma(232;0.154)		TGGAGTAGTGGAGAAGGAAGA	0.502000													23	38					0	0	1	0	0
SYT10	341359	broad.mit.edu	37	12	33532873	33532873	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr12:33532873C>T	ENST00000228567.3	-	6	1690	c.1394G>A	c.(1393-1395)gGa>gAa	p.G465E	SYT10_ENST00000535526.1_Missense_Mutation_p.G284E	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	465	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TCTGCACACTCCTATGACCTC	0.433000													18	48					0	0	1	0	0
PCDHA12	56137	broad.mit.edu	37	5	140256596	140256596	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr5:140256596G>A	ENST00000398631.2	+	1	1539	c.1539G>A	c.(1537-1539)gaG>gaA	p.E513E	PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCACGCGGAGAGCGGCAAGG	0.706000													255	47					0	0	1	0	0
SYCP2L	221711	broad.mit.edu	37	6	10907864	10907864	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr6:10907864G>A	ENST00000283141.6	+	10	1062	c.766G>A	c.(766-768)Gat>Aat	p.D256N	SYCP2L_ENST00000543878.1_Missense_Mutation_p.D97N|RP11-637O19.3_ENST00000480294.1_3'UTR	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	256						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			ATGGTTTGATGATGAAGTCAT	0.363000													43	51					0	0	1	0	0
SLC2A10	81031	broad.mit.edu	37	20	45354699	45354699	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr20:45354699C>T	ENST00000359271.2	+	2	1274	c.1024C>T	c.(1024-1026)Cct>Tct	p.P342S		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	342						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				GACAGGCCTCCCTGGAGACTC	0.592000													40	55					0	0	1	0	0
KRTAP13-4	284827	broad.mit.edu	37	21	31802960	31802960	+	Missense_Mutation	SNP	C	C	T	rs76547537		TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr21:31802960C>T	ENST00000334068.2	+	1	389	c.367C>T	c.(367-369)Cct>Tct	p.P123S		NM_181600.1	NP_853631.1	Q3LI77	KR134_HUMAN	keratin associated protein 13-4	123						intermediate filament				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	15						CTGTGGTTTTCCTTCCCTGAG	0.512000													17	19					0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94376855	94376855	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr4:94376855C>T	ENST00000282020.4	+	11	1846	c.1588C>T	c.(1588-1590)Cgt>Tgt	p.R530C	GRID2_ENST00000510992.1_Missense_Mutation_p.R435C	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	530					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	CACTCCAGATCGTGAAAATGT	0.418000													16	59					0	0	1	0	0
RABEP2	79874	broad.mit.edu	37	16	28925686	28925686	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr16:28925686G>A	ENST00000358201.4	-	5	1353	c.765C>T	c.(763-765)ggC>ggT	p.G255G	RABEP2_ENST00000357573.6_Silent_p.G255G|RABEP2_ENST00000544477.1_Silent_p.G184G	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	255					endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						CAGGGCTCAGGCCCTGGCGGC	0.667000													19	29					0	0	1	0	0
PALLD	23022	broad.mit.edu	37	4	169632959	169632959	+	Missense_Mutation	SNP	C	C	T	rs138283237	byFrequency	TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr4:169632959C>T	ENST00000335742.7	+	10	2060	c.703C>T	c.(703-705)Cgt>Tgt	p.R235C	PALLD_ENST00000505667.1_Missense_Mutation_p.R617C|PALLD_ENST00000261509.6_Missense_Mutation_p.R617C|PALLD_ENST00000512127.1_Missense_Mutation_p.R235C			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	617					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		CCATCCCAGCCGTGGAGTAAA	0.512000									Pancreatic Cancer, Familial Clustering of				36	33					0	0	1	0	0
ETS1	2113	broad.mit.edu	37	11	128332376	128332376	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:128332376G>A	ENST00000392668.3	-	10	1406	c.1338C>T	c.(1336-1338)atC>atT	p.I446I	ETS1_ENST00000319397.5_Silent_p.I402I|ETS1_ENST00000526145.1_Silent_p.I315I|ETS1_ENST00000535549.1_Silent_p.I186I|ETS1_ENST00000531611.1_3'UTR|ETS1_ENST00000345075.4_Silent_p.I315I	NM_001143820.1	NP_001137292.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	402					cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		CTGTCTTGTGGATGATGTTTT	0.522000													18	39					0	0	1	0	0
AFF2	2334	broad.mit.edu	37	X	148068950	148068950	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chrX:148068950G>A	ENST00000370460.2	+	20	4156	c.3677G>A	c.(3676-3678)gGg>gAg	p.G1226E	AFF2_ENST00000370457.5_Missense_Mutation_p.G1191E|AFF2_ENST00000342251.3_Missense_Mutation_p.G1193E|AFF2_ENST00000286437.5_Missense_Mutation_p.G867E	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1226					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AACGCAATGGGGAACTGTAAC	0.522000													48	1					0	0	1	0	0
CYP2C18	1562	broad.mit.edu	37	10	96454741	96454741	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr10:96454741C>T	ENST00000285979.6	+	4	748	c.549C>T	c.(547-549)ttC>ttT	p.F183F	CYP2C18_ENST00000339022.5_Silent_p.F183F|CYP2C19_ENST00000464755.1_3'UTR	NM_000772.2	NP_000763.1			cytochrome P450, family 2, subfamily C, polypeptide 18											NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		CTGTTATTTTCCATGATCGAT	0.393000													45	13					0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43503375	43503375	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr7:43503375C>T	ENST00000395891.1	+	14	3373	c.2768C>T	c.(2767-2769)gCc>gTc	p.A923V	HECW1_ENST00000453890.1_Missense_Mutation_p.A889V	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	923					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GACTCAGAAGCCGAATCTTCC	0.587000													48	101					0	0	1	0	0
TRIML1	339976	broad.mit.edu	37	4	189061682	189061682	+	Splice_Site	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr4:189061682G>A	ENST00000332517.3	+	2	549	c.408_splice	c.e2-1	p.E137_splice		NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	137					multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		TCTATTGCAGGAGAAACTCCA	0.483000													21	43					0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179736897	179736897	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:179736897T>A	ENST00000420890.2	-	13	2159	c.2042A>T	c.(2041-2043)aAa>aTa	p.K681I	CCDC141_ENST00000295723.5_Missense_Mutation_p.K106I	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	106							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CCACTGCTGTTTTCCAGGCTT	0.483000													13	14					0	0	1	0	0
ZBTB26	57684	broad.mit.edu	37	9	125681461	125681461	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr9:125681461G>A	ENST00000373656.3	-	2	826	c.753C>T	c.(751-753)atC>atT	p.I251I	ZBTB26_ENST00000373654.1_Silent_p.I251I	NM_020924.2	NP_065975.1	Q9HCK0	ZBT26_HUMAN	zinc finger and BTB domain containing 26	251					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)	11						TTGAGGCCATGATGATGTTAT	0.433000													89	12					0	0	1	0	0
LRG1	116844	broad.mit.edu	37	19	4538668	4538668	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr19:4538668C>T	ENST00000306390.6	-	2	788	c.328G>A	c.(328-330)Gaa>Aaa	p.E110K	LRG1_ENST00000586883.1_5'UTR|CTB-50L17.14_ENST00000586020.1_Intron	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1	110						extracellular region|membrane				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCAGGAATTCGGGCGAGAGG	0.637000													20	18					0	0	1	0	0
PLIN4	729359	broad.mit.edu	37	19	4511240	4511240	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr19:4511240C>T	ENST00000301286.3	-	3	2689	c.2690G>A	c.(2689-2691)gGg>gAg	p.G897E		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	897	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						CTGGACAGTCCCTTTGGCCAA	0.607000													45	69					0	0	1	0	0
CNR1	1268	broad.mit.edu	37	6	88854861	88854861	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr6:88854861G>A	ENST00000537554.1	-	2	3695	c.133C>T	c.(133-135)Cca>Tca	p.P45S	CNR1_ENST00000549716.1_Intron|CNR1_ENST00000369501.2_Missense_Mutation_p.P45S|CNR1_ENST00000468898.1_Intron|CNR1_ENST00000369499.2_Missense_Mutation_p.P45S|CNR1_ENST00000362094.5_Intron|CNR1_ENST00000535130.1_Missense_Mutation_p.P45S|CNR1_ENST00000428600.2_Missense_Mutation_p.P45S|CNR1_ENST00000549890.1_Missense_Mutation_p.P45S	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	45					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	AATTTCTGTGGGAAGTACCCT	0.502000													20	20					0	0	1	0	0
SRGAP3	9901	broad.mit.edu	37	3	9069797	9069797	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:9069797C>T	ENST00000360413.3	-	12	1715	c.1454G>A	c.(1453-1455)cGa>cAa	p.R485Q	SRGAP3_ENST00000383836.3_Intron|SRGAP3_ENST00000433332.3_5'UTR	NM_001033117.2	NP_001028289.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	492	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		GTTCCTGGTTCGAGCATTTCT	0.428000			T	RAF1	pilocytic astrocytoma								15	70					0	0	1	0	0
SULT1C4	27233	broad.mit.edu	37	2	109002825	109002825	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:109002825A>C	ENST00000272452.2	+	6	1119	c.793A>C	c.(793-795)Aaa>Caa	p.K265Q	SULT1C4_ENST00000409309.3_Missense_Mutation_p.K190Q	NM_006588.2	NP_006579.2	O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member 4	265					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol	sulfotransferase activity			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						ATTCATGAGAAAAGGTTTTTA	0.313000													9	21					0	0	1	0	0
OR4D11	219986	broad.mit.edu	37	11	59271750	59271750	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:59271750G>A	ENST00000313253.1	+	1	702	c.702G>A	c.(700-702)agG>agA	p.R234R		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						GGGGCAGGAGGAAAGCCATCT	0.562000													106	51					0	0	1	0	0
GPR55	9290	broad.mit.edu	37	2	231774939	231774939	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:231774939A>G	ENST00000392040.1	-	2	931	c.739T>C	c.(739-741)Ttc>Ctc	p.F247L	GPR55_ENST00000392039.2_Missense_Mutation_p.F247L	NM_005683.3	NP_005674.2	Q9Y2T6	GPR55_HUMAN	G protein-coupled receptor 55	247					activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction	integral to plasma membrane	cannabinoid receptor activity			endometrium(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		AACTGCAGGAAGAACCCCAGG	0.542000													15	54					0	0	1	0	0
PSMD4	5710	broad.mit.edu	37	1	151239724	151239724	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:151239724C>T	ENST00000368884.3	+	10	1119	c.1039C>T	c.(1039-1041)Ccc>Tcc	p.P347S	PSMD4_ENST00000368881.4_Missense_Mutation_p.P350S	NM_002810.2	NP_002801.1	P55036	PSMD4_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 4	347					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|DNA repair|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|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|lung(7)	11	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			AGGTGTGGATCCCAACAATGA	0.542000													146	4					0	0	1	0	0
LARP7	51574	broad.mit.edu	37	4	113567583	113567583	+	Silent	SNP	A	A	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr4:113567583A>T	ENST00000509061.1	+	5	603	c.300A>T	c.(298-300)gcA>gcT	p.A100A	LARP7_ENST00000324052.6_Silent_p.A93A|LARP7_ENST00000344442.5_Silent_p.A93A	NM_001267039.1	NP_001253968.1	Q4G0J3	LARP7_HUMAN	La ribonucleoprotein domain family, member 7	93	HTH La-type RNA-binding.				RNA processing	nucleoplasm|ribonucleoprotein complex	nucleotide binding|RNA binding			endometrium(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	17		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		TTGCCAGAGCATTGAGAAGTT	0.254000													29	19					0	0	1	0	0
MYO5A	4644	broad.mit.edu	37	15	52668714	52668714	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr15:52668714G>A	ENST00000399231.3	-	19	2493	c.2250C>T	c.(2248-2250)ttC>ttT	p.F750F	MYO5A_ENST00000358212.6_Silent_p.F750F|MYO5A_ENST00000399233.2_Silent_p.F750F|MYO5A_ENST00000356338.6_Silent_p.F750F|MYO5A_ENST00000553916.1_Silent_p.F750F	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	750	Myosin head-like.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		GACCGGCACGGAAAAAGATCT	0.398000													19	20					0	0	1	0	0
HIVEP1	3096	broad.mit.edu	37	6	12121147	12121147	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr6:12121147C>T	ENST00000379388.2	+	4	1451	c.1119C>T	c.(1117-1119)atC>atT	p.I373I		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	373					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CCATGCCAATCTATAATTCAA	0.403000													54	113					0	0	1	0	0
PSTPIP1	9051	broad.mit.edu	37	15	77320971	77320971	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr15:77320971G>A	ENST00000558012.1	+	7	983	c.494G>A	c.(493-495)gGc>gAc	p.G165D	PSTPIP1_ENST00000267939.5_Missense_Mutation_p.G164D|PSTPIP1_ENST00000379595.3_Missense_Mutation_p.G165D|PSTPIP1_ENST00000559295.1_Missense_Mutation_p.G165D|PSTPIP1_ENST00000557995.1_3'UTR	NM_003978.3	NP_003969.2	O43586	PPIP1_HUMAN	proline-serine-threonine phosphatase interacting protein 1	165					cell adhesion|signal transduction	cleavage furrow|lamellipodium|perinuclear region of cytoplasm	catalytic activity			breast(1)|endometrium(3)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						AGCGCCAACGGCCACCAGAAG	0.677000													4	2					0	0	1	0	0
PLXND1	23129	broad.mit.edu	37	3	129281942	129281942	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:129281942G>A	ENST00000393239.1	-	26	4841	c.4663C>T	c.(4663-4665)Ccc>Tcc	p.P1555S	PLXND1_ENST00000324093.4_Missense_Mutation_p.P1555S			Q9Y4D7	PLXD1_HUMAN	plexin D1	1555					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						CTTACCCGGGGCTTGGCCTCG	0.652000													16	27					0	0	1	0	0
C6orf118	168090	broad.mit.edu	37	6	165703450	165703450	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr6:165703450C>T	ENST00000230301.8	-	7	1247	c.1227G>A	c.(1225-1227)ctG>ctA	p.L409L	C6orf118_ENST00000543069.1_3'UTR	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	409										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		TTTCTTTTTCCAGAGCTTGTA	0.323000													18	10					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	68992730	68992730	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr8:68992730G>A	ENST00000288368.4	+	16	1972	c.1695G>A	c.(1693-1695)tcG>tcA	p.S565S	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	565	DEP 2.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GTTTTTTTTCGGATGAGGAAA	0.323000													9	25					0	0	1	0	0
OR10A5	144124	broad.mit.edu	37	11	6867415	6867415	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:6867415C>T	ENST00000299454.4	+	1	533	c.502C>T	c.(502-504)Cca>Tca	p.P168S	OR10A5_ENST00000379831.2_Missense_Mutation_p.P172S			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CTTCAGTTTTCCATTCTGTGG	0.527000													68	34					0	0	1	0	0
HTR5A	3361	broad.mit.edu	37	7	154862691	154862691	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr7:154862691G>A	ENST00000287907.2	+	1	658	c.82G>A	c.(82-84)Gac>Aac	p.D28N	AC093726.4_ENST00000493904.1_Intron|AC093726.4_ENST00000543018.1_Intron|AC093726.4_ENST00000395731.2_Intron	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	28						integral to plasma membrane	serotonin receptor activity	p.D28H(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		CGGCAAAGACGACCTGCGCCC	0.607000													59	45					0	0	1	0	0
ABCA3	21	broad.mit.edu	37	16	2376021	2376021	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr16:2376021G>A	ENST00000301732.5	-	5	1009	c.309C>T	c.(307-309)atC>atT	p.I103I	ABCA3_ENST00000567910.1_Silent_p.I103I|ABCA3_ENST00000382381.3_Silent_p.I103I	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	103					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				CTCGCATGTTGATCACAAGTG	0.642000													31	29					0	0	1	0	0
RASAL2	9462	broad.mit.edu	37	1	178427504	178427504	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:178427504C>T	ENST00000448150.3	+	14	3862	c.3044C>T	c.(3043-3045)cCa>cTa	p.P1015L	RASAL2_ENST00000367649.3_Missense_Mutation_p.P1026L|RASAL2_ENST00000462775.1_Missense_Mutation_p.P885L	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	885					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						GCCAAAGCCCCACCATCCCTG	0.587000													92	2					0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35727871	35727871	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr5:35727871G>A	ENST00000440995.2	+	21	2994	c.2994G>A	c.(2992-2994)caG>caA	p.Q998Q	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Silent_p.Q1003Q			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1003					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TAGTGCCACAGCCACCTAAGC	0.428000													44	92					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141283880	141283880	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:141283880C>T	ENST00000389484.3	-	48	8773	c.7802G>A	c.(7801-7803)gGg>gAg	p.G2601E		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2601	LDL-receptor class A 13.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			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)		AATACAAGTCCCATCTGCACA	0.418000										TSP Lung(27;0.18)			12	16					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77617773	77617773	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr8:77617773G>A	ENST00000521891.2	+	2	1898	c.1450G>A	c.(1450-1452)Gac>Aac	p.D484N	ZFHX4_ENST00000455469.2_Missense_Mutation_p.D484N|ZFHX4_ENST00000050961.6_Missense_Mutation_p.D484N|ZFHX4_ENST00000518282.1_Missense_Mutation_p.D484N|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	484						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGAACTTGATGACGAGGAAGT	0.428000										HNSCC(33;0.089)			5	14					0	0	1	0	0
VEPH1	79674	broad.mit.edu	37	3	157178021	157178021	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:157178021C>T	ENST00000362010.2	-	4	785	c.478G>A	c.(478-480)Gca>Aca	p.A160T	VEPH1_ENST00000392833.2_Missense_Mutation_p.A160T|VEPH1_ENST00000543418.1_Missense_Mutation_p.A160T|VEPH1_ENST00000494677.1_Missense_Mutation_p.A160T|VEPH1_ENST00000392832.2_Missense_Mutation_p.A160T|VEPH1_ENST00000537559.1_Missense_Mutation_p.A160T|VEPH1_ENST00000468233.1_Missense_Mutation_p.A160T	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	160						plasma membrane				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			AGGAGATCTGCCTTGGTAATT	0.458000													71	48					0	0	1	0	0
ANKIB1	54467	broad.mit.edu	37	7	92027925	92027925	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr7:92027925C>T	ENST00000265742.3	+	20	3308	c.2932C>T	c.(2932-2934)Cat>Tat	p.H978Y		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	978							protein binding|zinc ion binding	p.H978N(1)		cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GGCTTGGTTTCATGACATGAA	0.488000													98	78					0	0	1	0	0
NBAS	51594	broad.mit.edu	37	2	15607794	15607794	+	Missense_Mutation	SNP	A	A	T	rs143212851		TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:15607794A>T	ENST00000281513.5	-	18	2037	c.2012T>A	c.(2011-2013)tTt>tAt	p.F671Y	NBAS_ENST00000441750.1_Missense_Mutation_p.F671Y	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	671										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TTACTTGGAAAAGTTCACTAA	0.323000													7	13					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126408728	126408728	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr4:126408728C>T	ENST00000394329.3	+	16	13058	c.13045C>T	c.(13045-13047)Cca>Tca	p.P4349S	FAT4_ENST00000335110.5_Missense_Mutation_p.P2590S	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4349	Laminin G-like 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TGGAGGAATTCCACCCAATCA	0.378000													24	22					0	0	1	0	0
SULT1E1	6783	broad.mit.edu	37	4	70715276	70715276	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr4:70715276G>A	ENST00000226444.3	-	5	487	c.375C>T	c.(373-375)atC>atT	p.I125I		NM_005420.2	NP_005411.1	P49888	ST1E1_HUMAN	sulfotransferase family 1E, estrogen-preferring, member 1	125					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						GGCAAAGATAGATTATCTAAG	0.318000													27	21					0	0	1	0	0
TRAV18	28665	broad.mit.edu	37	14	22471696	22471696	+	RNA	SNP	T	T	G			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr14:22471696T>G	ENST00000390446.3	+	0	224																											GCTCTGACATTAAACTGCACT	0.443000													28	18					0	0	1	0	0
KCNJ6	3763	broad.mit.edu	37	21	39086562	39086562	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr21:39086562C>T	ENST00000400482.3	-	3	1487	c.898G>A	c.(898-900)Gag>Aag	p.E300K	KCNJ6_ENST00000288309.6_Missense_Mutation_p.E300K	NM_002240.3	NP_002231.1	P48051	IRK6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	300					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	TCCAGTTCCTCTTTGGGCAGC	0.483000													43	56					0	0	1	0	0
C9orf172	389813	broad.mit.edu	37	9	139741099	139741099	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr9:139741099C>T	ENST00000436881.1	+	1	2233	c.2233C>T	c.(2233-2235)Ctg>Ttg	p.L745L		NM_001080482.2	NP_001073951.2	C9J069	CI172_HUMAN	chromosome 9 open reading frame 172	745										endometrium(2)|large_intestine(1)|lung(6)	9						TGTCGGCTTCCTGTCGCGCGG	0.701000													24	0					0	0	1	0	0
SESN1	27244	broad.mit.edu	37	6	109309808	109309808	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr6:109309808G>A	ENST00000436639.2	-	9	2252	c.1507C>T	c.(1507-1509)Cct>Tct	p.P503S	SESN1_ENST00000356644.7_Missense_Mutation_p.P444S|SESN1_ENST00000302071.2_Missense_Mutation_p.P378S	NM_014454.2	NP_055269.1	Q9Y6P5	SESN1_HUMAN	sestrin 1	444					cell cycle arrest|negative regulation of cell proliferation|response to DNA damage stimulus	nucleus				cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	10		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)		ACCTTTTCAGGAGTGCAAACA	0.353000													10	15					0	0	1	0	0
KIF15	56992	broad.mit.edu	37	3	44856526	44856526	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:44856526C>T	ENST00000326047.4	+	20	2656	c.2507C>T	c.(2506-2508)tCc>tTc	p.S836F	KIF15_ENST00000425755.1_Missense_Mutation_p.S471F	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	836					blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		AACAAACTTTCCGAAAGACAC	0.383000													15	48					0	0	1	0	0
OR5B17	219965	broad.mit.edu	37	11	58125748	58125748	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:58125748G>A	ENST00000357377.3	-	1	794	c.795C>T	c.(793-795)tcC>tcT	p.S265S		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CTGTGTCCATGGAATGACTGG	0.403000													35	30					0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54936445	54936445	+	Silent	SNP	G	G	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr12:54936445G>T	ENST00000293373.6	+	31	3439	c.3360G>T	c.(3358-3360)gtG>gtT	p.V1120V	NCKAP1L_ENST00000545638.2_Silent_p.V1070V	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	1120					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						ATCGGGAGGTGTCTCGGGCCT	0.537000													16	44					2.32078e-09	2.32324e-09	1	1	0
APOH	350	broad.mit.edu	37	17	64210724	64210724	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr17:64210724C>T	ENST00000205948.6	-	7	866	c.829G>A	c.(829-831)Gga>Aga	p.G277R		NM_000042.2	NP_000033.2	P02749	APOH_HUMAN	apolipoprotein H (beta-2-glycoprotein I)	277	Sushi-like.				blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			ACTCTCTCTCCTTGGTACACC	0.353000													36	10					0	0	1	0	0
ZNF10	7556	broad.mit.edu	37	12	133733157	133733157	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr12:133733157T>A	ENST00000248211.6	+	5	1547	c.1325T>A	c.(1324-1326)tTt>tAt	p.F442Y	ZNF10_ENST00000402932.2_Missense_Mutation_p.F308Y|ZNF10_ENST00000426665.2_Missense_Mutation_p.F442Y|CTD-2140B24.4_ENST00000540096.2_Intron|ZNF268_ENST00000416488.1_Intron	NM_015394.4	NP_056209.2	P21506	ZNF10_HUMAN	zinc finger protein 10	442					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		GGAAAATGTTTTAGTCGAAGC	0.408000													16	58					0	0	1	0	0
SPARCL1	8404	broad.mit.edu	37	4	88415648	88415648	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr4:88415648C>T	ENST00000418378.1	-	5	875	c.304G>A	c.(304-306)Gac>Aac	p.D102N	SPARCL1_ENST00000282470.6_Missense_Mutation_p.D102N|SPARCL1_ENST00000503414.1_5'UTR	NM_001128310.1	NP_001121782.1	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	102					signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		CCATCACTGTCCTCTTGATCC	0.418000													43	34					0	0	1	0	0
PTPRE	5791	broad.mit.edu	37	10	129875949	129875949	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr10:129875949C>T	ENST00000254667.3	+	19	2073	c.1794C>T	c.(1792-1794)atC>atT	p.I598I	PTPRE_ENST00000419012.2_Silent_p.I598I|PTPRE_ENST00000306042.5_Silent_p.I540I	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	598	Tyrosine-protein phosphatase 2.				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				GGCCTGAGATCGGGATTCCCG	0.652000													16	2					0	0	1	0	0
TFEC	22797	broad.mit.edu	37	7	115580985	115580985	+	Splice_Site	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr7:115580985C>T	ENST00000265440.7	-	8	844	c.663_splice	c.e8-1	p.E222_splice	TFEC_ENST00000457268.1_Splice_Site_p.E155_splice|TFEC_ENST00000393485.1_3'UTR|TFEC_ENST00000320239.7_Splice_Site_p.E193_splice	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC	222						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	p.E222K(1)		NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			ATTTCTAGTTCCTGTAATTTC	0.378000													17	54					0	0	1	0	0
WDR19	57728	broad.mit.edu	37	4	39245958	39245958	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr4:39245958C>T	ENST00000399820.3	+	22	2666	c.2512C>T	c.(2512-2514)Ccc>Tcc	p.P838S	WDR19_ENST00000288634.7_Missense_Mutation_p.P678S	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	838					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						CCTCAAGCATCCCAGCAGGGT	0.453000													28	59					0	0	1	0	0
SMARCC2	6601	broad.mit.edu	37	12	56563689	56563689	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr12:56563689G>A	ENST00000394023.3	-	24	2524	c.2419C>T	c.(2419-2421)Cga>Tga	p.R807*	RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000267064.4_Nonsense_Mutation_p.R776*|SMARCC2_ENST00000550164.1_Nonsense_Mutation_p.R807*|SMARCC2_ENST00000347471.4_Nonsense_Mutation_p.R807*	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	776	Glu-rich.				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			CCTCCTTCTCGGGGTTCCTGA	0.488000													11	20					0	0	1	0	0
FSTL4	23105	broad.mit.edu	37	5	132648406	132648406	+	Nonsense_Mutation	SNP	G	G	A	rs148048628		TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr5:132648406G>A	ENST00000265342.7	-	6	916	c.667C>T	c.(667-669)Cga>Tga	p.R223*		NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	223						extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCGTCAAATCGGAGGAGGTCA	0.527000													15	4					0	0	1	0	0
KITLG	4254	broad.mit.edu	37	12	88912640	88912640	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr12:88912640C>T	ENST00000347404.5	-	4	769	c.197G>A	c.(196-198)aGt>aAt	p.S66N	KITLG_ENST00000228280.5_Missense_Mutation_p.S66N|KITLG_ENST00000378535.4_5'UTR|KITLG_ENST00000357116.4_Intron	NM_003994.5	NP_003985.2	P21583	SCF_HUMAN	KIT ligand	66					cell adhesion|cell proliferation|hemopoiesis|male gonad development|positive regulation of DNA replication|signal transduction	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	growth factor activity|identical protein binding|stem cell factor receptor binding			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)	9						CCAACAATGACTTGGCTGCAA	0.353000									Testicular Cancer, Familial Clustering of				8	19					0	0	1	0	0
IQGAP2	10788	broad.mit.edu	37	5	76003131	76003131	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr5:76003131G>A	ENST00000274364.6	+	36	5018	c.4721G>A	c.(4720-4722)gGa>gAa	p.G1574E	IQGAP2_ENST00000379730.3_Missense_Mutation_p.G1076E|IQGAP2_ENST00000396234.3_Missense_Mutation_p.G1070E|IQGAP2_ENST00000502745.1_Missense_Mutation_p.G1070E|IQGAP2_ENST00000508410.1_3'UTR|CTD-2384B11.2_ENST00000507514.1_RNA	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1574					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		AAGTTCTATGGAAAGTGAAGT	0.313000													33	21					0	0	1	0	0
LLGL2	3993	broad.mit.edu	37	17	73559842	73559842	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr17:73559842C>T	ENST00000392550.3	+	9	953	c.836C>T	c.(835-837)cCt>cTt	p.P279L	LLGL2_ENST00000375227.4_Missense_Mutation_p.P279L|LLGL2_ENST00000578363.1_Missense_Mutation_p.P279L|LLGL2_ENST00000167462.5_Missense_Mutation_p.P279L|LLGL2_ENST00000577200.1_Missense_Mutation_p.P279L	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	279					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			GGTCCCTTTCCTTGCAAAGCG	0.532000													38	8					0	0	1	0	0
CNOT10	25904	broad.mit.edu	37	3	32754731	32754731	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:32754731C>T	ENST00000328834.5	+	5	759	c.443C>T	c.(442-444)gCc>gTc	p.A148V	CNOT10_ENST00000331889.6_Missense_Mutation_p.A148V|CNOT10_ENST00000454516.2_Missense_Mutation_p.A208V|CNOT10_ENST00000538368.1_Intron	NM_015442.2	NP_056257.1	Q9H9A5	CNOTA_HUMAN	CCR4-NOT transcription complex, subunit 10	148					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						GAAAAATTTGCCCAAGCAGTG	0.363000													8	33					0	0	1	0	0
XKRX	402415	broad.mit.edu	37	X	100169471	100169471	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chrX:100169471G>A	ENST00000328526.5	-	3	1810	c.1245C>T	c.(1243-1245)ttC>ttT	p.F415F	XKRX_ENST00000468904.1_3'UTR|XKRX_ENST00000372956.2_Silent_p.F402F	NM_212559.2	NP_997724.2	Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related, X-linked	402						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						GCAAGTACTGGAAGAAAAGGA	0.448000													53	4					0	0	1	0	0
OR4F6	390648	broad.mit.edu	37	15	102346761	102346761	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr15:102346761C>T	ENST00000328882.4	+	1	860	c.839C>T	c.(838-840)cCc>cTc	p.P280L		NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F, member 6	280					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			GTTATCACTCCCGTTTTGAAT	0.348000													23	28					0	0	1	0	0
MAP4K2	5871	broad.mit.edu	37	11	64564326	64564326	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:64564326G>A	ENST00000294066.2	-	21	1538	c.1447C>T	c.(1447-1449)Ctg>Ttg	p.L483L	MAP4K2_ENST00000377350.3_Silent_p.L475L	NM_004579.3	NP_004570.2	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase kinase 2	483	CNH.				activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	basolateral plasma membrane|Golgi membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						TGGATCCGCAGGGGGCAGCCA	0.657000													11	44					0	0	1	0	0
AOC1	26	broad.mit.edu	37	7	150555993	150555993	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr7:150555993G>A	ENST00000493429.1	+	5	2297	c.1713G>A	c.(1711-1713)agG>agA	p.R571R	AOC1_ENST00000416793.2_Silent_p.R571R|AOC1_ENST00000360937.4_Silent_p.R571R|AOC1_ENST00000467291.1_Silent_p.R571R|AOC1_ENST00000480582.1_3'UTR					amine oxidase, copper containing 1																		GCTTCAAAAGGAAGCTGCCTA	0.632000													11	11					0	0	1	0	0
GPR143	4935	broad.mit.edu	37	X	9714140	9714140	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chrX:9714140G>A	ENST00000467482.1	-	5	748	c.602C>T	c.(601-603)cCc>cTc	p.P201L	GPR143_ENST00000380929.2_Missense_Mutation_p.P221L			P51810	GP143_HUMAN	G protein-coupled receptor 143	201					calcium-mediated signaling using intracellular calcium source|eye pigment biosynthetic process|melanosome organization|melanosome transport|phosphatidylinositol-mediated signaling|regulation of calcium-mediated signaling|visual perception	apical plasma membrane|Golgi apparatus|integral to membrane|lysosomal membrane|melanosome membrane|membrane fraction	dopamine binding|L-DOPA receptor activity|protein binding|tyrosine binding			endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Hepatocellular(5;0.000888)				CAGCAGCAGGGGCAGGTACAT	0.547000													31	6					0	0	1	0	0
CYP11B1	1584	broad.mit.edu	37	8	143958486	143958486	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr8:143958486C>T	ENST00000292427.4	-	3	580	c.548G>A	c.(547-549)aGc>aAc	p.S183N	CYP11B1_ENST00000377675.3_Missense_Mutation_p.S254N|CYP11B1_ENST00000517471.1_Missense_Mutation_p.S183N	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	183					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	CAGGGTCAGGCTCCCCCGGGC	0.632000									Familial Hyperaldosteronism type I				11	21					0	0	1	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187693102	187693102	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:187693102G>A	ENST00000295131.2	-	9	1550	c.1511C>T	c.(1510-1512)tCa>tTa	p.S504L		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	504					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			TTTCCCAAATGACACAGTGGG	0.333000													6	18					0	0	1	0	0
PCBP3	54039	broad.mit.edu	37	21	47320969	47320969	+	Missense_Mutation	SNP	C	C	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr21:47320969C>A	ENST00000400314.1	+	7	619	c.281C>A	c.(280-282)aCa>aAa	p.T94K	PCBP3_ENST00000400310.1_Missense_Mutation_p.T94K|PCBP3_ENST00000449640.1_Missense_Mutation_p.T94K|PCBP3_ENST00000400304.1_Missense_Mutation_p.T62K|PCBP3_ENST00000400308.1_Missense_Mutation_p.T94K|PCBP3_ENST00000468429.1_3'UTR|PCBP3_ENST00000400309.1_Missense_Mutation_p.T94K			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	94	KH 1.				mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		GTGACCATCACAGGCCCCACA	0.557000													31	40					1.61788e-16	1.62648e-16	1	1	0
MYOM1	8736	broad.mit.edu	37	18	3079235	3079235	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr18:3079235G>A	ENST00000356443.4	-	34	4923	c.4590C>T	c.(4588-4590)gtC>gtT	p.V1530V	MYOM1_ENST00000261606.7_Silent_p.V1434V|MYOM1_ENST00000400569.3_Silent_p.V1530V	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	1530						striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AGAGCTCCATGACATACTTCC	0.453000													8	43					0	0	1	0	0
IGF2BP3	10643	broad.mit.edu	37	7	23401333	23401333	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr7:23401333C>T	ENST00000258729.3	-	4	669	c.313G>A	c.(313-315)Gga>Aga	p.G105R	IGF2BP3_ENST00000491719.1_5'UTR	NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	105	RRM 2.				anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						TCCACCACTCCATACTGGACT	0.373000													26	18					0	0	1	0	0
SLC14A2	8170	broad.mit.edu	37	18	43221265	43221265	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr18:43221265C>T	ENST00000255226.6	+	8	1899	c.1083C>T	c.(1081-1083)ttC>ttT	p.F361F	SLC14A2_ENST00000586448.1_Silent_p.F361F	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	361						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GAGGCATGTTCTATGCCCTCA	0.562000													35	13					0	0	1	0	0
FSD1	79187	broad.mit.edu	37	19	4310507	4310507	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr19:4310507A>G	ENST00000221856.6	+	6	551	c.404A>G	c.(403-405)aAa>aGa	p.K135R	FSD1_ENST00000597590.1_Missense_Mutation_p.K135R|FSD1_ENST00000598010.1_3'UTR	NM_024333.2	NP_077309.1	Q9BTV5	FSD1_HUMAN	fibronectin type III and SPRY domain containing 1	135	COS.				cell division|mitosis	cleavage furrow|microtubule|microtubule organizing center|nucleus				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)		CTATCATTGAAAGCGAAGGTC	0.622000													38	72					0	0	1	0	0
PNP	4860	broad.mit.edu	37	14	20942962	20942962	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr14:20942962C>T	ENST00000361505.5	+	4	462	c.316C>T	c.(316-318)Ctg>Ttg	p.L106L	RP11-203M5.8_ENST00000554678.1_lincRNA	NM_000270.3	NP_000261.2	P00491	PNPH_HUMAN	purine nucleoside phosphorylase	106					immune response|inosine catabolic process|interleukin-2 secretion|NAD biosynthesis via nicotinamide riboside salvage pathway|nicotinamide riboside catabolic process|positive regulation of alpha-beta T cell differentiation|positive regulation of T cell proliferation|purine base metabolic process|purine nucleotide catabolic process|purine-containing compound salvage|response to drug|urate biosynthetic process	cytoskeleton|cytosol	drug binding|nucleoside binding|phosphate binding|purine base binding|purine-nucleoside phosphorylase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|stomach(2)	10					Aciclovir(DB00787)|Cladribine(DB00242)|Mercaptopurine(DB01033)	TTTCCACCTTCTGGGTGTGGA	0.448000													9	6					0	0	1	0	0
POLI	11201	broad.mit.edu	37	18	51818283	51818283	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr18:51818283C>T	ENST00000579534.1	+	9	1422	c.1279C>T	c.(1279-1281)Cac>Tac	p.H427Y	POLI_ENST00000579434.1_Missense_Mutation_p.H324Y|POLI_ENST00000582366.1_3'UTR|POLI_ENST00000217800.5_Missense_Mutation_p.H301Y|POLI_ENST00000406285.3_Missense_Mutation_p.H348Y	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	427					DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding			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)		GATGCCATTTCACCTTACCCT	0.323000								DNA polymerases (catalytic subunits)					31	24					0	0	1	0	0
DPP7	29952	broad.mit.edu	37	9	140006201	140006201	+	Silent	SNP	T	T	G			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr9:140006201T>G	ENST00000371579.2	-	11	1217	c.1213A>C	c.(1213-1215)Aga>Cga	p.R405R		NM_013379.2	NP_037511.2	Q9UHL4	DPP2_HUMAN	dipeptidyl-peptidase 7	405						cytoplasmic membrane-bounded vesicle|extracellular region|lysosome	aminopeptidase activity|protein binding|serine-type peptidase activity			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;4.25e-05)|Epithelial(140;0.000633)		CTGGCGGCTCTGAGATCTGCA	0.632000													16	72					0	0	1	0	0
PPP6R3	55291	broad.mit.edu	37	11	68326138	68326138	+	Missense_Mutation	SNP	G	G	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:68326138G>T	ENST00000393799.2	+	8	1103	c.836G>T	c.(835-837)cGa>cTa	p.R279L	PPP6R3_ENST00000393801.3_Missense_Mutation_p.R279L|PPP6R3_ENST00000524845.1_Missense_Mutation_p.R279L|PPP6R3_ENST00000527403.2_Missense_Mutation_p.R279L|PPP6R3_ENST00000393800.2_Missense_Mutation_p.R279L|PPP6R3_ENST00000524904.1_Missense_Mutation_p.R279L|PPP6R3_ENST00000529710.1_Missense_Mutation_p.R279L|PPP6R3_ENST00000265637.4_Missense_Mutation_p.R279L|PPP6R3_ENST00000534534.1_Intron|PPP6R3_ENST00000265636.5_Missense_Mutation_p.R279L			Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	279					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CTTGAGACACGACGACCAACG	0.348000													52	29					4.29476e-34	4.35467e-34	1	1	0
COL4A6	1288	broad.mit.edu	37	X	107431884	107431884	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chrX:107431884C>T	ENST00000334504.7	-	21	1683	c.1450G>A	c.(1450-1452)Gac>Aac	p.D484N	COL4A6_ENST00000538570.1_Missense_Mutation_p.D484N|COL4A6_ENST00000372216.4_Missense_Mutation_p.D485N|COL4A6_ENST00000545689.1_Missense_Mutation_p.D484N|COL4A6_ENST00000394872.2_Missense_Mutation_p.D485N	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	485	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						ACACCACCGTCACAAGCACAG	0.498000									Alport syndrome with Diffuse Leiomyomatosis				20	4					0	0	1	0	0
ATXN2L	11273	broad.mit.edu	37	16	28844396	28844396	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr16:28844396C>T	ENST00000336783.4	+	14	1843	c.1676C>T	c.(1675-1677)tCc>tTc	p.S559F	ATXN2L_ENST00000570200.1_Missense_Mutation_p.S559F|ATXN2L_ENST00000340394.8_Missense_Mutation_p.S559F|ATXN2L_ENST00000395547.2_Missense_Mutation_p.S559F|ATXN2L_ENST00000325215.6_Missense_Mutation_p.S559F|ATXN2L_ENST00000382686.4_Missense_Mutation_p.S559F|ATXN2L_ENST00000564304.1_Missense_Mutation_p.S565F|RP11-24N18.1_ENST00000563565.1_RNA	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	559						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CCCAGTAGCTCCCCTGAGAAC	0.502000													62	109					0	0	1	0	0
ZNF106	64397	broad.mit.edu	37	15	42742291	42742291	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr15:42742291G>A	ENST00000263805.4	-	2	2436	c.2110C>T	c.(2110-2112)Caa>Taa	p.Q704*	ZNF106_ENST00000565611.1_Intron|ZNF106_ENST00000565380.1_Intron	NM_022473.1	NP_071918.1			zinc finger protein 106																		TCACTTTTTTGAAGCTCTGCA	0.463000													49	77					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228886515	228886515	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:228886515C>T	ENST00000392056.3	-	6	655	c.609G>A	c.(607-609)acG>acA	p.T203T	SPHKAP_ENST00000344657.5_Silent_p.T203T	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	203						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		AGGAACAGTTCGTGTCATCCT	0.463000													16	37					0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77325284	77325284	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr16:77325284C>T	ENST00000282849.5	-	21	3699	c.3281G>A	c.(3280-3282)cGa>cAa	p.R1094Q		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	1094	TSP type-1 4.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.R1094Q(2)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						ACGGCATCTTCGCTCTGGGAA	0.522000													144	124					0	0	1	0	0
KCNQ5	56479	broad.mit.edu	37	6	73904856	73904856	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr6:73904856G>A	ENST00000342056.2	+	15	2973	c.2575G>A	c.(2575-2577)Gag>Aag	p.E859K	KCNQ5_ENST00000402622.2_Missense_Mutation_p.E850K|KCNQ5_ENST00000370398.1_Missense_Mutation_p.E840K|KCNQ5_ENST00000403813.2_Missense_Mutation_p.E831K|KCNQ5_ENST00000355194.4_Missense_Mutation_p.E840K|KCNQ5_ENST00000414165.2_Missense_Mutation_p.E730K|KCNQ5_ENST00000355635.3_Missense_Mutation_p.E841K	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	840					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		CAGGTCGACCGAGGAACTGAA	0.463000													12	20					0	0	1	0	0
ATP8B1	5205	broad.mit.edu	37	18	55362762	55362762	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr18:55362762T>C	ENST00000536015.1	-	9	820	c.701A>G	c.(700-702)gAa>gGa	p.E234G	RP11-35G9.5_ENST00000588925.1_RNA|ATP8B1_ENST00000283684.4_Missense_Mutation_p.E234G|RP11-35G9.3_ENST00000599199.1_RNA	NM_005603.4	NP_005594.1	O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	234					ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				TAAATTGGTTTCTCTAAAGGA	0.328000													19	10					0	0	1	0	0
LILRB1	10859	broad.mit.edu	37	19	55145132	55145132	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr19:55145132C>T	ENST00000396331.1	+	9	1662	c.1305C>T	c.(1303-1305)tcC>tcT	p.S435S	LILRB1_ENST00000396327.3_Silent_p.S435S|LILRB1_ENST00000396332.4_Silent_p.S435S|LILRB1_ENST00000396321.2_Silent_p.S435S|LILRB1_ENST00000324602.7_Silent_p.S435S|LILRB1_ENST00000427581.2_Silent_p.S471S|LILRB1_ENST00000396315.1_Silent_p.S435S|LILRB1_ENST00000396317.1_Intron|LILRB1_ENST00000434867.2_Silent_p.S435S|LILRB1_ENST00000448689.1_Silent_p.S435S|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000418536.2_Intron	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	435					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		GCCCCACCTCCACATCTGGTG	0.622000										HNSCC(37;0.09)			10	15					0	0	1	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73149255	73149255	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr4:73149255G>A	ENST00000286657.4	-	22	3252	c.3216C>T	c.(3214-3216)gtC>gtT	p.V1072V		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	1072					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GGTTAGAGATGACATCATCAT	0.458000													37	75					0	0	1	0	0
OR52M1	119772	broad.mit.edu	37	11	4566790	4566790	+	Missense_Mutation	SNP	C	C	T	rs61751908	byFrequency	TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:4566790C>T	ENST00000360213.1	+	1	370	c.370C>T	c.(370-372)Cgc>Tgc	p.R124C		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	124					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGCTTTTGATCGCTACGTGGC	0.527000													15	53					0	0	1	0	0
BTC	685	broad.mit.edu	37	4	75681110	75681110	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr4:75681110C>T	ENST00000395743.3	-	3	600	c.240G>A	c.(238-240)ggG>ggA	p.G80G		NM_001729.2	NP_001720.1	P35070	BTC_HUMAN	betacellulin	80	EGF-like.				positive regulation of cell division|positive regulation of cell proliferation	extracellular space|integral to membrane|plasma membrane|soluble fraction	epidermal growth factor receptor binding|growth factor activity			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10			Lung(101;0.219)			AGCGGCATCTCCCTTTGATGC	0.532000													25	77					0	0	1	0	0
NCAN	1463	broad.mit.edu	37	19	19339381	19339381	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr19:19339381G>A	ENST00000252575.5	+	8	2995	c.2952G>A	c.(2950-2952)tgG>tgA	p.W984*	NCAN_ENST00000538881.1_Nonsense_Mutation_p.W435*	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	984					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			AGAGCTTCTGGGAGGAGGTGG	0.642000													43	71					0	0	1	0	0
EPHA10	284656	broad.mit.edu	37	1	38227621	38227621	+	Silent	SNP	G	G	A	rs138523815		TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:38227621G>A	ENST00000373048.4	-	3	305	c.306C>T	c.(304-306)ttC>ttT	p.F102F	EPHA10_ENST00000427468.2_Silent_p.F102F|EPHA10_ENST00000319637.6_Silent_p.F102F	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	102						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCAGTTCCACGAAGATGCGCT	0.612000													143	12					0	0	1	0	0
FURIN	5045	broad.mit.edu	37	15	91420205	91420205	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr15:91420205T>A	ENST00000268171.3	+	5	731	c.452T>A	c.(451-453)aTt>aAt	p.I151N		NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	furin (paired basic amino acid cleaving enzyme)	151					cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			GTGGTCTCCATTCTGGACGAT	0.602000													104	67					0	0	1	0	0
CEP68	23177	broad.mit.edu	37	2	65298833	65298833	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:65298833C>T	ENST00000377990.2	+	3	806	c.603C>T	c.(601-603)tcC>tcT	p.S201S	CEP68_ENST00000537589.1_5'UTR|CEP68_ENST00000546106.1_Silent_p.S201S|CEP68_ENST00000497039.1_3'UTR|CEP68_ENST00000260569.4_Silent_p.S201S|RAB1A_ENST00000494188.1_Intron	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	201					centrosome organization	centrosome				breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						TCTCTGCTTCCTCCACAGGCA	0.642000													27	36					0	0	1	0	0
DUOXA1	90527	broad.mit.edu	37	15	45415186	45415186	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr15:45415186G>A	ENST00000558996.1	-	2	81	c.27C>T	c.(25-27)ccC>ccT	p.P9P	DUOXA1_ENST00000558422.1_Silent_p.P9P|DUOXA1_ENST00000267803.4_Silent_p.P9P|DUOXA1_ENST00000559014.1_Silent_p.P9P|DUOXA1_ENST00000430224.2_Silent_p.P9P|DUOXA1_ENST00000560572.1_Silent_p.P9P	NM_001276267.1|NM_001276268.1	NP_001263196.1|NP_001263197.1	Q1HG43	DOXA1_HUMAN	dual oxidase maturation factor 1	9					protein transport	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(109;6.02e-08)|all_epithelial(112;1.83e-06)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.82e-18)|GBM - Glioblastoma multiforme(94;4.39e-07)|COAD - Colon adenocarcinoma(120;0.0676)|Colorectal(133;0.0686)		CAGCATAGAAGGGGAATGTGT	0.517000													26	61					0	0	1	0	0
RBM7	10179	broad.mit.edu	37	11	114273623	114273623	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:114273623C>T	ENST00000544347.1	+	3	323	c.323C>T	c.(322-324)cCa>cTa	p.P108L	RBM7_ENST00000540163.1_Silent_p.S111S|RBM7_ENST00000544582.1_Silent_p.S111S|RBM7_ENST00000545678.1_Intron|RBM7_ENST00000541475.1_Silent_p.S111S|RBM7_ENST00000375490.5_Silent_p.S111S																							GCCCTACCTCCACATCTCCTA	0.353000													12	71					0	0	1	0	0
LHCGR	3973	broad.mit.edu	37	2	48915041	48915041	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:48915041C>T	ENST00000294954.7	-	11	1916	c.1895G>A	c.(1894-1896)aGa>aAa	p.R632K	STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000405626.1_Missense_Mutation_p.R605K|LHCGR_ENST00000403273.1_3'UTR|LHCGR_ENST00000401907.1_3'UTR|LHCGR_ENST00000344775.3_Missense_Mutation_p.R570K	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	632					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	AAAGAAATCTCTTTGGAATGT	0.358000													61	104					0	0	1	0	0
NLRP7	199713	broad.mit.edu	37	19	55446002	55446002	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr19:55446002C>T	ENST00000446217.1	-	9	2812	c.2410G>A	c.(2410-2412)Gag>Aag	p.E804K	NLRP7_ENST00000590030.1_Missense_Mutation_p.E776K|NLRP7_ENST00000592784.1_Missense_Mutation_p.E776K|NLRP7_ENST00000588756.1_Missense_Mutation_p.E776K|NLRP7_ENST00000448121.2_Missense_Mutation_p.E748K|NLRP7_ENST00000328092.5_Missense_Mutation_p.E748K|NLRP7_ENST00000340844.2_Missense_Mutation_p.E776K			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	776							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GCCCACTGCTCCGGGGTGGCA	0.507000													16	16					0	0	1	0	0
BPIFB2	80341	broad.mit.edu	37	20	31607532	31607532	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr20:31607532C>T	ENST00000170150.3	+	11	1251	c.1056C>T	c.(1054-1056)ttC>ttT	p.F352F		NM_025227.1	NP_079503.1	Q8N4F0	BPIL1_HUMAN	BPI fold containing family B, member 2	352						extracellular region	lipid binding										ACTCGGCTTTCCAGTCCCTCT	0.637000													18	27					0	0	1	0	0
PODN	127435	broad.mit.edu	37	1	53544534	53544534	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:53544534G>A	ENST00000371500.3	+	10	1780	c.1439G>A	c.(1438-1440)cGa>cAa	p.R480Q	PODN_ENST00000312553.5_Missense_Mutation_p.R499Q|PODN_ENST00000395871.2_Missense_Mutation_p.R357Q|RP11-334A14.5_ENST00000447867.1_RNA	NM_001199080.1	NP_001186009.1	Q7Z5L7	PODN_HUMAN	podocan	451					negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GGGCTGCCTCGAAATGTCCAT	0.672000													38	2					0	0	1	0	0
TACR3	6870	broad.mit.edu	37	4	104511031	104511031	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr4:104511031G>A	ENST00000304883.2	-	5	1346	c.1206C>T	c.(1204-1206)acC>acT	p.T402T	RP11-297P16.3_ENST00000512401.1_RNA|RP11-297P16.3_ENST00000502936.1_RNA	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	402						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		TTCTGGTCACGGTGTACATAC	0.502000													95	91					0	0	1	0	0
CLPSL1	340204	broad.mit.edu	37	6	35755649	35755649	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr6:35755649C>T	ENST00000373861.5	+	3	322	c.228C>T	c.(226-228)ttC>ttT	p.F76F	CLPSL1_ENST00000542261.1_Silent_p.F75F			A2RUU4	CF127_HUMAN	colipase-like 1	76					digestion|lipid catabolic process	extracellular region	enzyme activator activity										CCCAGGTGTTCTTTGGCCAAT	0.542000													23	129					0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89398252	89398252	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr15:89398252C>T	ENST00000439576.2	+	12	2810	c.2436C>T	c.(2434-2436)ttC>ttT	p.F812F	ACAN_ENST00000352105.7_Silent_p.F812F|ACAN_ENST00000561243.1_Silent_p.F812F|ACAN_ENST00000559004.1_Silent_p.F812F	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	812					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TGAGGCCATTCCCCTCAGTGG	0.602000													4	12					0	0	1	0	0
CYP2B6	1555	broad.mit.edu	37	19	41510297	41510297	+	Missense_Mutation	SNP	G	G	A	rs117323987	by1000genomes	TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr19:41510297G>A	ENST00000324071.4	+	3	437	c.430G>A	c.(430-432)Gag>Aag	p.E144K	CYP2B6_ENST00000598834.1_3'UTR|CYP2B6_ENST00000330446.5_Missense_Mutation_p.E104K|CYP2B6_ENST00000593831.1_Missense_Mutation_p.E68K	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	144					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	GAGTGTGGAGGAGCGGATTCA	0.527000													9	23					0	0	1	0	0
OR9I1	219954	broad.mit.edu	37	11	57886109	57886109	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:57886109C>T	ENST00000302610.1	-	1	807	c.808G>A	c.(808-810)Gaa>Aaa	p.E270K	OR9Q1_ENST00000335397.3_Intron	NM_001005211.1	NP_001005211.1	Q8NGQ6	OR9I1_HUMAN	olfactory receptor, family 9, subfamily I, member 1	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23		Breast(21;0.0589)				ACTTTGTCTTCCTCCAGAGAT	0.458000													14	62					0	0	1	0	0
ATP8B4	79895	broad.mit.edu	37	15	50168586	50168586	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr15:50168586G>A	ENST00000284509.6	-	25	3057	c.2916C>T	c.(2914-2916)atC>atT	p.I972I	ATP8B4_ENST00000559829.1_Silent_p.I972I	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	972					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CCCCATAGGGGATGAAGAAAA	0.443000													37	38					0	0	1	0	0
EME1	146956	broad.mit.edu	37	17	48452820	48452820	+	Missense_Mutation	SNP	G	G	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr17:48452820G>T	ENST00000393271.2	+	2	333	c.251G>T	c.(250-252)aGc>aTc	p.S84I	EME1_ENST00000511648.2_Missense_Mutation_p.S84I|EME1_ENST00000338165.4_Missense_Mutation_p.S84I	NM_001166131.1	NP_001159603.1	Q96AY2	EME1_HUMAN	essential meiotic structure-specific endonuclease 1	84					DNA recombination|DNA repair	nucleolus	DNA binding|endonuclease activity|metal ion binding|protein binding			endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	19	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			AGGTTGCTAAGCAGTGAAAGT	0.468000								Direct reversal of damage;Homologous recombination					56	6					1.03172e-35	1.04724e-35	1	1	0
ERC2	26059	broad.mit.edu	37	3	55984565	55984565	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:55984565T>G	ENST00000288221.6	-	13	2546	c.2291A>C	c.(2290-2292)aAg>aCg	p.K764T		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	764						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		GTTGGCCACCTTCTTATTCTG	0.408000													30	22					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76440868	76440868	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr17:76440868C>T	ENST00000389840.5	-	71	11428	c.11304G>A	c.(11302-11304)gaG>gaA	p.E3768E	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Silent_p.E3777E					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			ACTCATCCATCTCCGAGAGGG	0.577000													21	8					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103385889	103385889	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:103385889G>A	ENST00000358392.2	-	49	4093	c.3776C>T	c.(3775-3777)tCa>tTa	p.S1259L	COL11A1_ENST00000353414.4_Missense_Mutation_p.S1208L|COL11A1_ENST00000370096.3_Missense_Mutation_p.S1247L|COL11A1_ENST00000512756.1_Missense_Mutation_p.S1131L	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1247	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			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)		ACCACCAACTGAACCAACAGA	0.363000													167	7					0	0	1	0	0
ZCWPW1	55063	broad.mit.edu	37	7	100007119	100007119	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr7:100007119C>T	ENST00000398027.2	-	9	1047	c.800G>A	c.(799-801)tGg>tAg	p.W267*	ZCWPW1_ENST00000324725.6_Nonsense_Mutation_p.W147*|ZCWPW1_ENST00000490721.1_Nonsense_Mutation_p.W147*|ZCWPW1_ENST00000360951.4_Nonsense_Mutation_p.W268*	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	267							zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CAGCCGCCTCCATTTCCCACA	0.433000													14	25					0	0	1	0	0
PAX7	5081	broad.mit.edu	37	1	19062415	19062415	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:19062415C>T	ENST00000375375.3	+	8	2043	c.1445C>T	c.(1444-1446)tCt>tTt	p.S482F	PAX7_ENST00000420770.2_Intron|PAX7_ENST00000400661.3_Missense_Mutation_p.S480F	NM_002584.2|NM_013945.2	NP_002575.1|NP_039236.1	P23759	PAX7_HUMAN	paired box 7	482					anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		CCCATTCCTTCTCCCACCCCC	0.607000			T	FOXO1A	alveolar rhabdomyosarcoma								59	5					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179604026	179604026	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:179604026G>A	ENST00000589042.1	-	48	14158	c.13934C>T	c.(13933-13935)cCt>cTt	p.P4645L	TTN_ENST00000342175.6_Missense_Mutation_p.P4474L|TTN_ENST00000591111.1_Missense_Mutation_p.P4328L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P4282L|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P4407L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4328	Ig-like 26.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			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)			TTCATCTGAAGGCACCAGTTT	0.373000													6	15					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36873930	36873930	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:36873930C>T	ENST00000301807.6	-	21	7259	c.5362G>A	c.(5362-5364)Gga>Aga	p.G1788R	TRANK1_ENST00000429976.2_Missense_Mutation_p.G2338R|TRANK1_ENST00000428977.2_Missense_Mutation_p.G1788R	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2338					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CCTTCTATTCCTTTTATCCTG	0.493000													19	81					0	0	1	0	0
TCF4	6925	broad.mit.edu	37	18	52899811	52899811	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr18:52899811C>T	ENST00000354452.3	-	17	2189	c.1578G>A	c.(1576-1578)acG>acA	p.T526T	TCF4_ENST00000356073.4_Silent_p.T526T|TCF4_ENST00000568673.1_Silent_p.T502T|TCF4_ENST00000561831.3_Silent_p.T366T|TCF4_ENST00000570287.2_Silent_p.T366T|TCF4_ENST00000566279.1_Silent_p.T466T|TCF4_ENST00000567880.1_Silent_p.T466T|TCF4_ENST00000568740.1_Silent_p.T501T|TCF4_ENST00000544241.2_Silent_p.T455T|TCF4_ENST00000565018.2_Silent_p.T526T|TCF4_ENST00000564228.1_Silent_p.T455T|TCF4_ENST00000543082.1_Silent_p.T484T|TCF4_ENST00000540999.1_Silent_p.T502T|TCF4_ENST00000566286.1_Silent_p.T523T|TCF4_ENST00000457482.3_Silent_p.T366T|TCF4_ENST00000564403.2_Silent_p.T532T|TCF4_ENST00000537856.3_Silent_p.T396T|TCF4_ENST00000570177.2_Silent_p.T396T|TCF4_ENST00000561992.1_Silent_p.T396T|TCF4_ENST00000564999.1_Silent_p.T526T|TCF4_ENST00000398339.1_Silent_p.T628T|TCF4_ENST00000537578.1_Silent_p.T502T	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN	transcription factor 4	526					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		CCGAAGATTTCGTGTCTTGCA	0.453000													4	46					0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159655479	159655479	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr6:159655479C>T	ENST00000297267.9	+	11	4135	c.3935C>T	c.(3934-3936)tCc>tTc	p.S1312F	FNDC1_ENST00000340366.6_Missense_Mutation_p.S1249F	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1312						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		AACCCTCTCTCCCGACAGCCT	0.532000													12	25					0	0	1	0	0
TRIM35	23087	broad.mit.edu	37	8	27145103	27145103	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr8:27145103G>A	ENST00000305364.4	-	6	1529	c.1446C>T	c.(1444-1446)ccC>ccT	p.P482P		NM_171982.3	NP_741983.2	Q9UPQ4	TRI35_HUMAN	tripartite motif containing 35	482	B30.2/SPRY.				apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle	cytoplasm|nucleus	zinc ion binding			breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	14		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		TGATGTGCAAGGGGCAGATGC	0.622000													4	3					0	0	1	0	0
MATK	4145	broad.mit.edu	37	19	3783999	3783999	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr19:3783999G>A	ENST00000310132.6	-	6	793	c.395C>T	c.(394-396)gCt>gTt	p.A132V	MATK_ENST00000395045.2_Missense_Mutation_p.A133V|MATK_ENST00000585778.1_Missense_Mutation_p.A132V|MATK_ENST00000395040.2_Missense_Mutation_p.A91V	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	132	SH2.				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGCTGGACAGCCTCCTGGCC	0.692000													7	14					0	0	1	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69040489	69040489	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:69040489C>T	ENST00000295381.3	+	6	1161	c.742C>T	c.(742-744)Ccc>Tcc	p.P248S	ARHGAP25_ENST00000497079.1_Missense_Mutation_p.P242S|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.P249S|ARHGAP25_ENST00000544262.1_Missense_Mutation_p.P223S|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.P209S|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.P241S|ARHGAP25_ENST00000456116.2_3'UTR|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.P242S	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	248	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						GCCCGTGGTTCCCTGGAGCCA	0.517000													29	46					0	0	1	0	0
NDNF	79625	broad.mit.edu	37	4	121958589	121958589	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr4:121958589G>A	ENST00000379692.4	-	4	1063	c.537C>T	c.(535-537)gaC>gaT	p.D179D	NDNF_ENST00000506900.1_5'UTR	NM_024574.3	NP_078850.3	Q8TB73	CD031_HUMAN	neuron-derived neurotrophic factor	179										breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						CTACTCTTGGGTCATAGGGTA	0.483000													47	88					0	0	1	0	0
LTBP2	4053	broad.mit.edu	37	14	74971538	74971538	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr14:74971538C>T	ENST00000261978.4	-	30	4782	c.4396G>A	c.(4396-4398)Gga>Aga	p.G1466R	LTBP2_ENST00000556690.1_Missense_Mutation_p.G1422R	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1466					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		TAGCCTTTTCCACTAGGGCAG	0.542000													12	16					0	0	1	0	0
ACSM4	341392	broad.mit.edu	37	12	7475048	7475048	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr12:7475048G>A	ENST00000399422.4	+	7	1084	c.1036G>A	c.(1036-1038)Gga>Aga	p.G346R		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	346					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						CTGCTTGACCGGAGGGGAGCC	0.498000													13	11					0	0	1	0	0
KRBA1	84626	broad.mit.edu	37	7	149417952	149417952	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr7:149417952C>T	ENST00000255992.10	+	4	580	c.181C>T	c.(181-183)Ctc>Ttc	p.L61F	KRBA1_ENST00000485033.2_Missense_Mutation_p.L61F|KRBA1_ENST00000319551.8_Missense_Mutation_p.L61F|KRBA1_ENST00000479560.1_3'UTR	NM_032534.2	NP_115923.2	A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	61										breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CAGCCTGCACCTCACAGCCCT	0.647000													3	10					0	0	1	0	0
MAPK15	225689	broad.mit.edu	37	8	144800414	144800414	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr8:144800414C>T	ENST00000338033.4	+	4	347	c.228C>T	c.(226-228)ctC>ctT	p.L76L	MAPK15_ENST00000395107.4_Silent_p.L76L|MAPK15_ENST00000395108.2_Silent_p.L76L	NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	76	Protein kinase.				protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	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;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TCATCAGCCTCCTTGACGTGA	0.622000													52	83					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10399660	10399660	+	Silent	SNP	C	C	T	rs146890530	byFrequency	TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr17:10399660C>T	ENST00000226207.5	-	34	4957	c.4863G>A	c.(4861-4863)aaG>aaA	p.K1621K	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1621						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTCCCTCCATCTTCTTCTTGA	0.502000													82	13					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82816266	82816266	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr5:82816266G>A	ENST00000265077.3	+	7	2706	c.2141G>A	c.(2140-2142)gGa>gAa	p.G714E	VCAN_ENST00000342785.4_Missense_Mutation_p.G714E|VCAN_ENST00000512590.2_Missense_Mutation_p.G666E|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	714	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CCATTTATGGGAAAAACAGAA	0.363000													13	49					0	0	1	0	0
ZNF41	7592	broad.mit.edu	37	X	47307856	47307856	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chrX:47307856G>A	ENST00000377065.4	-	5	1952	c.1313C>T	c.(1312-1314)cCt>cTt	p.P438L	ZNF41_ENST00000313116.7_Missense_Mutation_p.P438L|ZNF41_ENST00000397050.2_Missense_Mutation_p.P448L	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	480						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				GCATACATAAGGTTTCTCTCC	0.443000													34	0					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152282066	152282066	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:152282066G>A	ENST00000368799.1	-	3	5331	c.5296C>T	c.(5296-5298)Ctc>Ttc	p.L1766F	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1766	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCTGGTAGAGGAAAGACCCT	0.612000									Ichthyosis				409	29					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10397942	10397942	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr17:10397942C>T	ENST00000226207.5	-	38	5609	c.5515G>A	c.(5515-5517)Gaa>Aaa	p.E1839K	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1839						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TTGACAGCTTCAACATTGCGC	0.403000													52	5					0	0	1	0	0
MFSD7	84179	broad.mit.edu	37	4	677397	677397	+	Splice_Site	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr4:677397C>T	ENST00000322224.4	-	7	1307		c.e7+1		MFSD7_ENST00000515118.1_Splice_Site|MFSD7_ENST00000404286.2_Splice_Site|MFSD7_ENST00000503156.1_Splice_Site|MFSD7_ENST00000347950.5_Splice_Site			Q6UXD7	MFSD7_HUMAN	major facilitator superfamily domain containing 7						transmembrane transport	integral to membrane				cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						GAGACCCTCACCAGGGCAAAG	0.642000													8	17					0	0	1	0	0
SIRPD	128646	broad.mit.edu	37	20	1532560	1532560	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr20:1532560C>T	ENST00000381623.3	-	2	1387	c.198G>A	c.(196-198)aaG>aaA	p.K66K	SIRPD_ENST00000381621.1_Silent_p.K66K			Q9H106	SIRPD_HUMAN	signal-regulatory protein delta	66	Ig-like V-type.					extracellular region				breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)	15						GCCCTGTTCCCTTGAACCACA	0.448000													67	94					0	0	1	0	0
COL2A1	1280	broad.mit.edu	37	12	48368104	48368104	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr12:48368104C>T	ENST00000380518.3	-	53	4249	c.4085G>A	c.(4084-4086)gGa>gAa	p.G1362E	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Missense_Mutation_p.G1293E	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	1362	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding	p.G1293A(1)|p.G1362A(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	ATTGTCATCTCCATAGCTGAA	0.572000													19	14					0	0	1	0	0
SLC17A8	246213	broad.mit.edu	37	12	100806615	100806615	+	Silent	SNP	C	C	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr12:100806615C>A	ENST00000323346.5	+	10	1567	c.1254C>A	c.(1252-1254)tcC>tcA	p.S418S	SLC17A8_ENST00000552697.1_3'UTR|SLC17A8_ENST00000392989.3_Silent_p.S368S	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	418					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						TGGCTATCTCCTTTCTGGTAC	0.453000													38	83					8.20599e-20	8.28489e-20	1	1	0
MAPK13	5603	broad.mit.edu	37	6	36106512	36106512	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr6:36106512C>T	ENST00000211287.4	+	10	1058	c.796C>T	c.(796-798)Ccc>Tcc	p.P266S	MAPK13_ENST00000373761.6_Missense_Mutation_p.P256S|MAPK13_ENST00000373759.1_Missense_Mutation_p.P137L|MAPK13_ENST00000373766.5_Missense_Mutation_p.P215L	NM_002754.4	NP_002745.1	O15264	MK13_HUMAN	mitogen-activated protein kinase 13	266	Protein kinase.				cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|Ras protein signal transduction|response to stress		ATP binding|MAP kinase activity|protein binding			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|prostate(2)|skin(1)	12						GCCACAGACCCCCAGGAAGGA	0.612000													18	21					0	0	1	0	0
TTC9C	283237	broad.mit.edu	37	11	62502996	62502996	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:62502996C>T	ENST00000316461.4	+	2	691	c.381C>T	c.(379-381)gcC>gcT	p.A127A	TTC9C_ENST00000513247.2_3'UTR|TTC9C_ENST00000532583.1_Silent_p.A127A	NM_173810.3	NP_776171.1	Q8N5M4	TTC9C_HUMAN	tetratricopeptide repeat domain 9C	127							binding			breast(1)|endometrium(1)|lung(2)|ovary(1)|pancreas(1)	6						ATGACCAGGCCCGCCACTACC	0.512000													9	21					0	0	1	0	0
AVIL	10677	broad.mit.edu	37	12	58204181	58204181	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr12:58204181G>A	ENST00000537081.1	-	6	690	c.691C>T	c.(691-693)Cct>Tct	p.P231S	AVIL_ENST00000257861.3_Missense_Mutation_p.P238S			O75366	AVIL_HUMAN	advillin	238	Core (By similarity).				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					ATCTCATCAGGGACTGTAGGC	0.512000													20	19					0	0	1	0	0
CABP4	57010	broad.mit.edu	37	11	67226104	67226104	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:67226104T>G	ENST00000438189.2	+	7	831	c.487T>G	c.(487-489)Ttt>Gtt	p.F163V	CABP4_ENST00000325656.5_Missense_Mutation_p.F268V			P57796	CABP4_HUMAN	calcium binding protein 4	268	EF-hand 1.				visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding			central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			TCCCGCAGAGTTTGTGATGAT	0.652000													32	16					0	0	1	0	0
DIAPH1	1729	broad.mit.edu	37	5	140909190	140909190	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr5:140909190G>A	ENST00000253811.6	-	20	2799	c.2659C>T	c.(2659-2661)Ctg>Ttg	p.L887L	DIAPH1_ENST00000520569.1_Silent_p.L829L|DIAPH1_ENST00000494967.1_5'UTR|DIAPH1_ENST00000518047.1_Silent_p.L874L|DIAPH1_ENST00000398557.4_Silent_p.L886L|DIAPH1_ENST00000398562.2_Silent_p.L862L|DIAPH1_ENST00000398566.3_Silent_p.L878L|DIAPH1_ENST00000389054.3_Silent_p.L883L|DIAPH1_ENST00000389057.5_Silent_p.L877L			O60610	DIAP1_HUMAN	diaphanous-related formin 1	886	FH2.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACTCAGTCAGAACAGCCTCA	0.478000													94	22					0	0	1	0	0
MAP2	4133	broad.mit.edu	37	2	210570368	210570368	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:210570368C>T	ENST00000360351.4	+	11	5155	c.4649C>T	c.(4648-4650)cCt>cTt	p.P1550L	MAP2_ENST00000475600.1_3'UTR|MAP2_ENST00000199940.6_Missense_Mutation_p.P251L|MAP2_ENST00000361559.4_Missense_Mutation_p.P194L|MAP2_ENST00000447185.1_Missense_Mutation_p.P1546L|MAP2_ENST00000392194.1_Missense_Mutation_p.P194L	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	1550					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	ATTCTCCCTCCTCGGCGAGGT	0.478000													36	51					0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89398253	89398253	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr15:89398253C>T	ENST00000439576.2	+	12	2811	c.2437C>T	c.(2437-2439)Ccc>Tcc	p.P813S	ACAN_ENST00000352105.7_Missense_Mutation_p.P813S|ACAN_ENST00000561243.1_Missense_Mutation_p.P813S|ACAN_ENST00000559004.1_Missense_Mutation_p.P813S	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	813					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GAGGCCATTCCCCTCAGTGGA	0.607000													4	13					0	0	1	0	0
TAF2	6873	broad.mit.edu	37	8	120774830	120774830	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr8:120774830G>A	ENST00000378164.2	-	19	2681	c.2383C>T	c.(2383-2385)Cgt>Tgt	p.R795C	TAF2_ENST00000519355.1_5'UTR	NM_003184.3	NP_003175.1	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	795					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			ATTTCTGCACGATAATAGTTA	0.318000													24	56					0	0	1	0	0
ZNF197	10168	broad.mit.edu	37	3	44684346	44684346	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:44684346T>A	ENST00000396058.1	+	5	1891	c.1724T>A	c.(1723-1725)tTc>tAc	p.F575Y	ZNF197_ENST00000383745.2_Intron|ZNF197_ENST00000344387.4_Missense_Mutation_p.F575Y|ZNF197_ENST00000383744.4_Intron|RP11-944L7.4_ENST00000457331.1_RNA			O14709	ZN197_HUMAN	zinc finger protein 197	575					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		GGAAAAGTTTTCATTCGAAGC	0.403000													38	14					0	0	1	0	0
HGF	3082	broad.mit.edu	37	7	81381566	81381566	+	Silent	SNP	C	C	T	rs137853235		TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr7:81381566C>T	ENST00000222390.5	-	5	721	c.495G>A	c.(493-495)tcG>tcA	p.S165S	HGF_ENST00000423064.2_Silent_p.S165S|HGF_ENST00000444829.2_Silent_p.S165S|HGF_ENST00000453411.1_Intron|HGF_ENST00000457544.2_Intron	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	165	Kringle 1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						CCCGATAGCTCGAAGGCAAAA	0.403000													16	45					0	0	1	0	0
SH3RF3	344558	broad.mit.edu	37	2	109964176	109964176	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:109964176G>A	ENST00000309415.6	+	2	620	c.620G>A	c.(619-621)gGg>gAg	p.G207E		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	207	SH3 1.						zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						AGCTACGAGGGGAAGGAACCT	0.597000													7	13					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48311856	48311856	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr7:48311856G>A	ENST00000435803.1	+	17	2617	c.2593G>A	c.(2593-2595)Gag>Aag	p.E865K		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	865					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TCCAGAAAATGAGATTCTGAG	0.333000													51	50					0	0	1	0	0
ELAVL4	1996	broad.mit.edu	37	1	50610797	50610797	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:50610797G>A	ENST00000371824.1	+	2	435	c.178G>A	c.(178-180)Gaa>Aaa	p.E60K	ELAVL4_ENST00000448907.2_Missense_Mutation_p.E63K|ELAVL4_ENST00000371827.1_Missense_Mutation_p.E60K|ELAVL4_ENST00000492299.1_3'UTR|ELAVL4_ENST00000371823.4_Missense_Mutation_p.E60K|ELAVL4_ENST00000357083.4_Missense_Mutation_p.E77K|ELAVL4_ENST00000371821.1_Missense_Mutation_p.E65K|ELAVL4_ENST00000371819.1_Missense_Mutation_p.E65K			P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	60	RRM 1.				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						TATGACCCAAGAAGAATTCAG	0.433000													121	5					0	0	1	0	0
DLGAP2	9228	broad.mit.edu	37	8	1649497	1649497	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr8:1649497C>T	ENST00000421627.2	+	12	2987	c.2853C>T	c.(2851-2853)tcC>tcT	p.S951S		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	1030					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		GAGCGGCGTCCTTCCGGCAGA	0.667000													3	2					0	0	1	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14852054	14852054	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr18:14852054G>A	ENST00000358984.4	+	36	3934	c.3754G>A	c.(3754-3756)Gat>Aat	p.D1252N		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1337										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						TTATGCAGGAGATGATCTAAG	0.353000													3	17					0	0	1	0	0
OR7C2	26658	broad.mit.edu	37	19	15053144	15053144	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr19:15053144C>T	ENST00000248072.3	+	1	844	c.844C>T	c.(844-846)Ccc>Tcc	p.P282S		NM_012377.1	NP_036509.1	O60412	OR7C2_HUMAN	olfactory receptor, family 7, subfamily C, member 2	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					CATGGTCACCCCCATGCTGAA	0.547000													35	48					0	0	1	0	0
PAPD4	167153	broad.mit.edu	37	5	78919109	78919109	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr5:78919109G>A	ENST00000453514.1	+	4	955	c.262G>A	c.(262-264)Ggt>Agt	p.G88S	PAPD4_ENST00000504233.1_Missense_Mutation_p.G88S|PAPD4_ENST00000428308.2_Missense_Mutation_p.G88S|PAPD4_ENST00000423041.2_Missense_Mutation_p.G88S|PAPD4_ENST00000296783.3_Missense_Mutation_p.G88S	NM_001114394.1	NP_001107866.1	Q6PIY7	GLD2_HUMAN	PAP associated domain containing 4	88					histone mRNA catabolic process|mRNA processing|RNA polyadenylation	cytoplasm	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity	p.G88N(1)		biliary_tract(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(9)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)		TCCTCTTGACGGTAAACGGCA	0.373000													21	91					0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52321541	52321541	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr8:52321541G>A	ENST00000356297.4	-	17	2743	c.2643C>T	c.(2641-2643)gtC>gtT	p.V881V	PXDNL_ENST00000543296.1_Silent_p.V881V	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	881					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			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)				CTCGTGCATAGACTGAATCCA	0.662000													31	23					0	0	1	0	0
INSRR	3645	broad.mit.edu	37	1	156815192	156815192	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:156815192C>T	ENST00000368195.3	-	11	2584	c.2188G>A	c.(2188-2190)Gtg>Atg	p.V730M	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	730					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					ATGGACGTCACCTTCCAAGGG	0.647000													53	3					0	0	1	0	0
OR6C3	254786	broad.mit.edu	37	12	55725806	55725806	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr12:55725806G>A	ENST00000379667.1	+	1	322	c.322G>A	c.(322-324)Gaa>Aaa	p.E108K		NM_054104.1	NP_473445.1	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C, member 3	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						GGGGGTGACTGAATTTTACAT	0.428000													44	38					0	0	1	0	0
GRIA2	2891	broad.mit.edu	37	4	158257627	158257627	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr4:158257627G>A	ENST00000296526.7	+	11	1897	c.1572G>A	c.(1570-1572)atG>atA	p.M524I	GRIA2_ENST00000264426.9_Missense_Mutation_p.M524I|GRIA2_ENST00000449365.1_Missense_Mutation_p.M477I|GRIA2_ENST00000393815.2_Missense_Mutation_p.M477I|GRIA2_ENST00000507898.1_Missense_Mutation_p.M477I	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	524					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	TATCTATCATGATCAAGAAGC	0.423000													137	63					0	0	1	0	0
GLCE	26035	broad.mit.edu	37	15	69561299	69561299	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr15:69561299G>A	ENST00000261858.2	+	5	1798	c.1570G>A	c.(1570-1572)Gaa>Aaa	p.E524K	GLCE_ENST00000559420.2_Missense_Mutation_p.E460K	NM_015554.1	NP_056369.1	O94923	GLCE_HUMAN	glucuronic acid epimerase	524					heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process	Golgi membrane|integral to membrane	UDP-glucuronate 5'-epimerase activity			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						TGACTTAAAAGAAACTGCAGG	0.403000													33	68					0	0	1	0	0
FHOD1	29109	broad.mit.edu	37	16	67266056	67266056	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr16:67266056G>A	ENST00000258201.4	-	14	2335	c.2088C>T	c.(2086-2088)gaC>gaT	p.D696D	FHOD1_ENST00000567687.1_Silent_p.D275D	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	696	FH2.|Interaction with ROCK1.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		TGCGCTTGGGGTCCAGCACTG	0.582000													31	33					0	0	1	0	0
C6	729	broad.mit.edu	37	5	41172415	41172415	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr5:41172415C>T	ENST00000263413.3	-	9	1467	c.1203G>A	c.(1201-1203)agG>agA	p.R401R	C6_ENST00000337836.5_Silent_p.R401R|C6_ENST00000475349.1_5'UTR	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	401	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TTGTTTCAATCCTGACACAGT	0.408000													41	37					0	0	1	0	0
SCUBE1	80274	broad.mit.edu	37	22	43606952	43606952	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr22:43606952A>T	ENST00000360835.3	-	18	2485	c.2359T>A	c.(2359-2361)Tcc>Acc	p.S787T		NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	787					adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				ACGTTGGTGGAGCCATCGAAG	0.652000													34	34					0	0	1	0	0
PPIL2	23759	broad.mit.edu	37	22	22036790	22036790	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr22:22036790C>T	ENST00000406385.1	+	8	512	c.452C>T	c.(451-453)tCc>tTc	p.S151F	PPIL2_ENST00000335025.7_Missense_Mutation_p.S151F|PPIL2_ENST00000492445.2_Missense_Mutation_p.S151F|PPIL2_ENST00000398831.3_Missense_Mutation_p.S151F|PPIL2_ENST00000456792.2_Missense_Mutation_p.S130F|PPIL2_ENST00000412327.1_Missense_Mutation_p.S151F			Q13356	PPIL2_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 2	151					blood coagulation|leukocyte migration|protein folding|protein polyubiquitination	Golgi lumen|nucleus|ubiquitin ligase complex	peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17	Colorectal(54;0.105)					GAGCCCTTCTCCCGGCAGGAC	0.612000													23	21					0	0	1	0	0
ELAC1	55520	broad.mit.edu	37	18	48500853	48500853	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr18:48500853C>T	ENST00000269466.3	+	2	186	c.79C>T	c.(79-81)Cgg>Tgg	p.R27W	RP11-729L2.2_ENST00000588256.1_3'UTR|RP11-729L2.2_ENST00000590722.2_Missense_Mutation_p.R27W|ELAC1_ENST00000591429.1_Missense_Mutation_p.R27W|ELAC1_ENST00000588577.1_Missense_Mutation_p.R27W|SMAD4_ENST00000452201.2_5'UTR	NM_018696.2	NP_061166.1	Q9H777	RNZ1_HUMAN	elaC ribonuclease Z 1	27					tRNA 3'-trailer cleavage	nucleus	endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			kidney(1)|large_intestine(4)|prostate(1)	6		Colorectal(6;0.0269)|all_epithelial(6;0.0729)		Colorectal(21;0.000943)|COAD - Colon adenocarcinoma(17;0.0398)|READ - Rectum adenocarcinoma(32;0.0894)|STAD - Stomach adenocarcinoma(97;0.18)		TGTGGTCCTTCGGTGTGAAGG	0.532000													11	66					0	0	1	0	0
HTR1A	3350	broad.mit.edu	37	5	63256409	63256409	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr5:63256409G>A	ENST00000323865.3	-	1	1371	c.1138C>T	c.(1138-1140)Ctg>Ttg	p.L380L	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	380					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	GCGCCCAACAGGGTGGGCATG	0.527000													170	74					0	0	1	0	0
KRTAP10-1	386677	broad.mit.edu	37	21	45959685	45959685	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr21:45959685C>T	ENST00000400375.1	-	1	393	c.349G>A	c.(349-351)Gat>Aat	p.D117N	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198691.2	NP_941964.2	P60331	KR101_HUMAN	keratin associated protein 10-1	117	24 X 5 AA repeats of C-C-X(3).					keratin filament				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						GAAGAGGAATCCTTAGAgcag	0.627000													47	61					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7576865	7576865	+	Nonsense_Mutation	SNP	A	A	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr17:7576865A>T	ENST00000420246.2	-	9	1113	c.981T>A	c.(979-981)taT>taA	p.Y327*	TP53_ENST00000455263.2_Nonsense_Mutation_p.Y327*|TP53_ENST00000269305.4_Nonsense_Mutation_p.Y327*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Y327*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Y327*|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	327	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		Y -> H (in a sporadic cancer; somatic mutation).|Y -> S (in a sporadic cancer; 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.0?(8)|p.Y327*(6)|p.Y327fs*1(1)|p.?(1)|p.Y327fs*9(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)		GAAGGGTGAAATATTCTCCAT	0.443000		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)			45	4					0	0	1	0	0
BPIFB1	92747	broad.mit.edu	37	20	31890183	31890183	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr20:31890183C>T	ENST00000253354.1	+	10	1107	c.946C>T	c.(946-948)Cgg>Tgg	p.R316W	BPIFB1_ENST00000464032.1_3'UTR	NM_033197.2	NP_149974.2	Q8TDL5	LPLC1_HUMAN	BPI fold containing family B, member 1	316						extracellular space	lipid binding	p.R316W(1)									GAGTGCCCATCGGCTGAAGTC	0.582000													69	74					0	0	1	0	0
ASB5	140458	broad.mit.edu	37	4	177142381	177142381	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr4:177142381G>A	ENST00000296525.3	-	5	708	c.595C>T	c.(595-597)Cct>Tct	p.P199S	ASB5_ENST00000512254.1_Missense_Mutation_p.P146S	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	199					intracellular signal transduction					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		CCCAAATGAGGAATTTCTTGG	0.413000													31	27					0	0	1	0	0
CD248	57124	broad.mit.edu	37	11	66083110	66083110	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:66083110G>A	ENST00000311330.3	-	1	1405	c.1389C>T	c.(1387-1389)gcC>gcT	p.A463A	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	463	Pro-rich.					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	GAGGCTGGTGGGCAGAAGGCA	0.642000													61	33					0	0	1	0	0
PALM2-AKAP2	445815	broad.mit.edu	37	9	112899221	112899221	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr9:112899221C>T	ENST00000374530.3	+	8	1577	c.1397C>T	c.(1396-1398)cCt>cTt	p.P466L	AKAP2_ENST00000555236.1_Missense_Mutation_p.P466L|AKAP2_ENST00000510514.5_Missense_Mutation_p.P466L|AKAP2_ENST00000434623.2_Missense_Mutation_p.P324L|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.P466L|AKAP2_ENST00000374525.1_Missense_Mutation_p.P324L|AKAP2_ENST00000259318.7_Missense_Mutation_p.P235L	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		235							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						AAGAAGAATCCTGGCATTGCA	0.522000													49	4					0	0	1	0	0
POF1B	79983	broad.mit.edu	37	X	84560874	84560874	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chrX:84560874C>T	ENST00000262753.4	-	13	1505	c.1360G>A	c.(1360-1362)Gat>Aat	p.D454N	POF1B_ENST00000373145.3_Missense_Mutation_p.D454N	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	454							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						CCAATCTCATCCATTTTAGCC	0.388000													15	3					0	0	1	0	0
CYP3A43	64816	broad.mit.edu	37	7	99454470	99454470	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr7:99454470C>T	ENST00000354829.2	+	9	916	c.813C>T	c.(811-813)ttC>ttT	p.F271F	CYP3A43_ENST00000444905.1_Silent_p.F18F|CYP3A43_ENST00000477658.1_3'UTR|CYP3A43_ENST00000312017.5_Silent_p.F271F|CYP3A43_ENST00000415413.1_Silent_p.F60F|CYP3A43_ENST00000417625.1_Silent_p.F161F|CYP3A43_ENST00000222382.5_Silent_p.F271F|CYP3A43_ENST00000342499.4_Silent_p.F131F	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43	271			Missing (in allele CYP3A43*2).		xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Cetirizine(DB00341)|Doxycycline(DB00254)	GAGTAGATTTCTTTCAACAGA	0.443000													53	47					0	0	1	0	0
POLD1	5424	broad.mit.edu	37	19	50906828	50906828	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr19:50906828C>T	ENST00000440232.2	+	10	1269	c.1216C>T	c.(1216-1218)Ctc>Ttc	p.L406F	POLD1_ENST00000595904.1_Missense_Mutation_p.L406F|POLD1_ENST00000599857.1_Missense_Mutation_p.L406F	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	406					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		CCTTCCGTACCTCATCTCTCG	0.632000								DNA polymerases (catalytic subunits)					57	76					0	0	1	0	0
KLHDC10	23008	broad.mit.edu	37	7	129760637	129760637	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr7:129760637C>T	ENST00000335420.5	+	4	658	c.524C>T	c.(523-525)cCa>cTa	p.P175L		NM_014997.3	NP_055812.1	Q6PID8	KLD10_HUMAN	kelch domain containing 10	175										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|liver(2)|lung(10)|prostate(1)	17						ACGGGCATCCCATTTGGAGAG	0.463000													80	58					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38591903	38591903	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:38591903T>A	ENST00000413689.1	-	28	6153	c.5960A>T	c.(5959-5961)aAc>aTc	p.N1987I	SCN5A_ENST00000443581.1_Missense_Mutation_p.N1986I|SCN5A_ENST00000451551.2_Missense_Mutation_p.N1933I|SCN5A_ENST00000425664.1_Missense_Mutation_p.N1969I|SCN5A_ENST00000423572.2_Missense_Mutation_p.N1986I|SCN5A_ENST00000414099.2_Missense_Mutation_p.N1969I|SCN5A_ENST00000333535.4_Missense_Mutation_p.N1987I|SCN5A_ENST00000455624.2_Missense_Mutation_p.N1954I|SCN5A_ENST00000450102.2_Missense_Mutation_p.N1933I|SCN5A_ENST00000449557.2_Missense_Mutation_p.N1933I	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1987					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CACCTGGAGGTTATCGCTGGT	0.617000													42	33					0	0	1	0	0
OR51B6	390058	broad.mit.edu	37	11	5373002	5373002	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:5373002G>A	ENST00000380219.1	+	1	265	c.265G>A	c.(265-267)Gag>Aag	p.E89K	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGATCACAGGGAGATTGGCCA	0.478000													43	20					0	0	1	0	0
KCTD3	51133	broad.mit.edu	37	1	215793886	215793886	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:215793886C>T	ENST00000259154.4	+	18	2668	c.2374C>T	c.(2374-2376)Cca>Tca	p.P792S	KCTD3_ENST00000495537.1_3'UTR	NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	792						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		TACTGCGTCCCCATCTCCTAC	0.448000													108	4					0	0	1	0	0
PRDM16	63976	broad.mit.edu	37	1	3342248	3342248	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:3342248C>T	ENST00000378398.3	+	14	3125	c.3043C>T	c.(3043-3045)Cgc>Tgc	p.R1015C	PRDM16_ENST00000378391.2_Missense_Mutation_p.R1015C|PRDM16_ENST00000442529.2_Missense_Mutation_p.R1014C|PRDM16_ENST00000441472.2_Missense_Mutation_p.R1014C|PRDM16_ENST00000514189.1_Missense_Mutation_p.R1015C|PRDM16_ENST00000270722.5_Missense_Mutation_p.R1015C|PRDM16_ENST00000511072.1_Missense_Mutation_p.R1016C|PRDM16_ENST00000512462.1_3'UTR			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	1015	Interaction with CTBP1 and CTBP2 (By similarity).|Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CCTGTGCAACCGCTGCTTCGG	0.622000			T	EVI1	"""MDS, AML"""								86	13					0	0	1	0	0
WRN	7486	broad.mit.edu	37	8	30924625	30924625	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr8:30924625C>T	ENST00000298139.5	+	6	830	c.581C>T	c.(580-582)tCt>tTt	p.S194F		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	194	3'-5' exonuclease.|Interaction with WRNIP1 (By similarity).				base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		AAAGACAAGTCTATCCGCTGT	0.413000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				13	22					0	0	1	0	0
ANKS1B	56899	broad.mit.edu	37	12	99225895	99225895	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr12:99225895A>G	ENST00000547776.2	-	18	2797	c.2798T>C	c.(2797-2799)aTt>aCt	p.I933T	ANKS1B_ENST00000547446.1_Missense_Mutation_p.I128T|ANKS1B_ENST00000333732.7_5'UTR|ANKS1B_ENST00000546568.1_Missense_Mutation_p.I159T|ANKS1B_ENST00000546960.1_Missense_Mutation_p.I159T|ANKS1B_ENST00000549025.2_Intron|ANKS1B_ENST00000341752.7_5'UTR|ANKS1B_ENST00000547010.1_Missense_Mutation_p.I509T|ANKS1B_ENST00000549493.2_Missense_Mutation_p.I159T|ANKS1B_ENST00000549558.2_Missense_Mutation_p.I159T|ANKS1B_ENST00000332712.7_Missense_Mutation_p.I159T|ANKS1B_ENST00000550693.2_Missense_Mutation_p.I159T|ANKS1B_ENST00000329257.7_Missense_Mutation_p.I933T	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	933	SAM 2.					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				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)		CCTGTGGCCAATCAAATTGAT	0.423000													2	2					0	0	1	0	0
MBD5	55777	broad.mit.edu	37	2	149247684	149247684	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:149247684G>A	ENST00000407073.1	+	12	4781	c.3784G>A	c.(3784-3786)Gaa>Aaa	p.E1262K	MBD5_ENST00000404807.1_Missense_Mutation_p.E1495K	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1262						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		AATTCTAGAGGAAAATTTCAG	0.408000													10	15					0	0	1	0	0
PARP15	165631	broad.mit.edu	37	3	122351025	122351025	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:122351025G>A	ENST00000483793.1	+	7	986	c.946G>A	c.(946-948)Gac>Aac	p.D316N	PARP15_ENST00000464300.2_Missense_Mutation_p.D511N|PARP15_ENST00000465304.1_3'UTR|PARP15_ENST00000493645.1_Missense_Mutation_p.D208N|PARP15_ENST00000310366.4_Missense_Mutation_p.D277N			Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15	489	Macro 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		TACCATAAAGGACAAGTTCAC	0.378000													21	11					0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48777607	48777607	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr15:48777607C>T	ENST00000316623.5	-	30	4131	c.3676G>A	c.(3676-3678)Gga>Aga	p.G1226R		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	1226	EGF-like 19; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		AGTGCAAATCCCGGCTGACAG	0.438000													45	50					0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121483463	121483463	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:121483463A>C	ENST00000260197.7	+	40	5470	c.5341A>C	c.(5341-5343)Aac>Cac	p.N1781H	SORL1_ENST00000532694.1_Missense_Mutation_p.N627H|SORL1_ENST00000534286.1_Missense_Mutation_p.N691H|SORL1_ENST00000527934.1_Missense_Mutation_p.N396H|SORL1_ENST00000525532.1_Missense_Mutation_p.N725H	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1781	Fibronectin type-III 3.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CTATGTGGTGAACCTTTTCTG	0.448000													8	26					0	0	1	0	0
HS3ST4	9951	broad.mit.edu	37	16	26147178	26147178	+	Missense_Mutation	SNP	C	C	G			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr16:26147178C>G	ENST00000331351.5	+	2	1372	c.980C>G	c.(979-981)tCc>tGc	p.S327C	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	327					heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		ATCGATGCTTCCTGGAGTGCC	0.542000													5	246					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103179671	103179671	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr7:103179671G>A	ENST00000428762.1	-	45	7193	c.7034C>T	c.(7033-7035)cCc>cTc	p.P2345L	RELN_ENST00000343529.5_Missense_Mutation_p.P2345L|RELN_ENST00000424685.2_Missense_Mutation_p.P2345L	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2345					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GCCACACACGGGCATCTTGGT	0.493000													28	29					0	0	1	0	0
F3	2152	broad.mit.edu	37	1	94996126	94996126	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:94996126C>T	ENST00000370207.4	-	5	618	c.618G>A	c.(616-618)tgG>tgA	p.W206*	F3_ENST00000334047.7_Missense_Mutation_p.V260I	NM_001178096.1	NP_001171567.1	P13726	TF_HUMAN	coagulation factor III (thromboplastin, tissue factor)	0					activation of caspase activity|activation of plasma proteins involved in acute inflammatory response|anti-apoptosis|blood coagulation, extrinsic pathway|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of protein kinase B signaling cascade	extracellular matrix|extracellular space|integral to membrane	cell surface binding|phospholipid binding|protease binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)	14		all_lung(203;0.00106)|Lung NSC(277;0.00475)		all cancers(265;0.0232)|Epithelial(280;0.121)	Coagulation factor VIIa(DB00036)	ACCACAAATACCACAGCTCCA	0.433000													74	3					0	0	1	0	0
IMPG1	3617	broad.mit.edu	37	6	76660395	76660395	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr6:76660395C>T	ENST00000369950.3	-	13	1897	c.1708G>A	c.(1708-1710)Ggc>Agc	p.G570S	IMPG1_ENST00000369963.3_3'UTR	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	570	SEA 2.				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				AGCTCTCGGCCCTTGGGGGCA	0.498000													9	35					0	0	1	0	0
ZNF331	55422	broad.mit.edu	37	19	54080990	54080990	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr19:54080990C>T	ENST00000253144.9	+	7	2509	c.1176C>T	c.(1174-1176)ttC>ttT	p.F392F	ZNF331_ENST00000512387.1_Silent_p.F392F|ZNF331_ENST00000511593.2_Silent_p.F392F|ZNF331_ENST00000449416.1_Silent_p.F392F|ZNF331_ENST00000511154.1_Silent_p.F392F|ZNF331_ENST00000513999.1_Silent_p.F392F|ZNF331_ENST00000411977.2_Silent_p.F392F	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	392					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		GGAAGGCTTTCATTTATGGAT	0.488000			T	?	follicular thyroid adenoma								14	21					0	0	1	0	0
HRH4	59340	broad.mit.edu	37	18	22057033	22057033	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr18:22057033C>T	ENST00000256906.4	+	3	780	c.680C>T	c.(679-681)tCa>tTa	p.S227L	HRH4_ENST00000426880.2_Missense_Mutation_p.S139L	NM_001160166.1|NM_021624.3	NP_001153638.1|NP_067637.2	Q9H3N8	HRH4_HUMAN	histamine receptor H4	227						integral to membrane|plasma membrane	histamine receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)				Clozapine(DB00363)	TGTGGACACTCATTCAGAGGT	0.453000													87	33					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150947935	150947935	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr5:150947935G>A	ENST00000261800.5	-	1	570	c.558C>T	c.(556-558)gcC>gcT	p.A186A		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	186	Cadherin 2.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	p.A186A(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)			TTGTGTTAAAGGCATAATAGA	0.532000													40	234					0	0	1	0	0
MTERFD1	51001	broad.mit.edu	37	8	97263174	97263174	+	Missense_Mutation	SNP	G	G	A	rs148129681	by1000genomes	TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr8:97263174G>A	ENST00000523821.1	-	4	756	c.637C>T	c.(637-639)Cat>Tat	p.H213Y	MTERFD1_ENST00000522822.1_Missense_Mutation_p.H92Y|MTERFD1_ENST00000287025.3_Missense_Mutation_p.H213Y|MTERFD1_ENST00000524341.1_Missense_Mutation_p.H23Y			Q96E29	MTER1_HUMAN	MTERF domain containing 1	213					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion	transcription regulatory region DNA binding	p.H213Y(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24	Breast(36;5.16e-05)					AAAATTGCATGATTTTTTGTC	0.348000													24	136					0	0	1	0	0
NIPAL1	152519	broad.mit.edu	37	4	48035030	48035030	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr4:48035030A>C	ENST00000295461.5	+	4	457	c.391A>C	c.(391-393)Aat>Cat	p.N131H	NIPAL1_ENST00000508180.1_3'UTR	NM_207330.1	NP_997213.1	Q6NVV3	NIPA3_HUMAN	NIPA-like domain containing 1	131						integral to membrane				endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						AGAGGCTGCAAATTTTGCTGC	0.448000													12	23					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40424010	40424010	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr19:40424010C>T	ENST00000221347.6	-	4	2200	c.2193G>A	c.(2191-2193)tcG>tcA	p.S731S		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	731						extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			AGTCCCCAACCGAGATGCCAA	0.617000													25	35					0	0	1	0	0
JADE1	79960	broad.mit.edu	37	4	129782889	129782889	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr4:129782889C>T	ENST00000226319.6	+	9	1292	c.1012C>T	c.(1012-1014)Cat>Tat	p.H338Y	PHF17_ENST00000452328.2_Missense_Mutation_p.H326Y|PHF17_ENST00000511647.1_Missense_Mutation_p.H338Y|PHF17_ENST00000413543.2_Missense_Mutation_p.H338Y|PHF17_ENST00000512960.1_Missense_Mutation_p.H338Y	NM_199320.2	NP_955352.1	Q6IE81	JADE1_HUMAN		338					apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CACAGCCTTCCATGTGACCTG	0.483000													40	66					0	0	1	0	0
HCLS1	3059	broad.mit.edu	37	3	121353237	121353237	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:121353237C>T	ENST00000314583.3	-	10	811	c.720G>A	c.(718-720)gcG>gcA	p.A240A	HCLS1_ENST00000473883.1_5'UTR|HCLS1_ENST00000428394.2_Silent_p.A203A	NM_005335.4	NP_005326.2	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	240					erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity	p.A240A(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		ACTCAAATTTCGCCTTCAGCC	0.537000													39	12					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155254394	155254394	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr4:155254394G>A	ENST00000357232.3	-	9	1468	c.1469C>T	c.(1468-1470)tCc>tTc	p.S490F	DCHS2_ENST00000339452.1_Missense_Mutation_p.S989F|DCHS2_ENST00000507542.1_5'UTR	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	490	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CGTGGTCTGGGATATTCTAAT	0.597000													51	26					0	0	1	0	0
LAD1	3898	broad.mit.edu	37	1	201356158	201356158	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:201356158C>T	ENST00000391967.2	-	3	632	c.331G>A	c.(331-333)Gag>Aag	p.E111K	LAD1_ENST00000367313.3_Missense_Mutation_p.E125K	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	111						basement membrane	structural molecule activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						TCCAGCCTCTCCTGGATGGGG	0.622000													42	3					0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121786772	121786772	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr5:121786772G>A	ENST00000261367.7	+	12	3799	c.2371G>A	c.(2371-2373)Gat>Aat	p.D791N	SNCAIP_ENST00000379533.2_Missense_Mutation_p.D791N|CTC-210G5.1_ENST00000505546.1_RNA|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000414317.2_Missense_Mutation_p.D346N|SNCAIP_ENST00000379536.2_Missense_Mutation_p.D684N|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000261368.8_Missense_Mutation_p.D744N|SNCAIP_ENST00000542191.1_Missense_Mutation_p.D302N|SNCAIP_ENST00000503116.2_3'UTR|CTC-210G5.1_ENST00000506053.1_RNA|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000379538.3_Missense_Mutation_p.D378N			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	744					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		CAAATCCCTGGATGGCCACAG	0.542000													12	6					0	0	1	0	0
FSTL5	56884	broad.mit.edu	37	4	162459388	162459388	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr4:162459388G>A	ENST00000306100.5	-	10	1678	c.1242C>T	c.(1240-1242)atC>atT	p.I414I	FSTL5_ENST00000379164.4_Silent_p.I413I|FSTL5_ENST00000427802.2_Silent_p.I413I|FSTL5_ENST00000536695.1_Silent_p.I413I	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	414	Ig-like 2.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CATTCTTTGCGATACAAGTGT	0.423000													70	54					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152631541	152631541	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr6:152631541G>A	ENST00000367255.5	-	89	17610	c.17009C>T	c.(17008-17010)tCt>tTt	p.S5670F	SYNE1_ENST00000448038.1_Missense_Mutation_p.S5599F|SYNE1_ENST00000423061.1_Missense_Mutation_p.S5599F|SYNE1_ENST00000356820.4_Missense_Mutation_p.S194F|SYNE1_ENST00000265368.4_Missense_Mutation_p.S5670F|SYNE1_ENST00000341594.5_Missense_Mutation_p.S5282F	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5670					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			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)		CTGCCGATGAGAGAGCTGCTC	0.443000										HNSCC(10;0.0054)			15	41					0	0	1	0	0
CASR	846	broad.mit.edu	37	3	121980435	121980435	+	Nonsense_Mutation	SNP	C	C	T	rs104893707		TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:121980435C>T	ENST00000498619.1	+	4	991	c.553C>T	c.(553-555)Cga>Tga	p.R185*	CASR_ENST00000490131.1_Nonsense_Mutation_p.R185*|CASR_ENST00000296154.5_Nonsense_Mutation_p.R185*	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	185			R -> Q (in FHH).		anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GTCTTTCCTCCGAACCATCCC	0.507000													31	112					0	0	1	0	0
SYT15	83849	broad.mit.edu	37	10	46965077	46965077	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr10:46965077C>T	ENST00000374323.3	-	5	1614	c.1027G>A	c.(1027-1029)Gac>Aac	p.D343N	SYT15_ENST00000374325.3_Missense_Mutation_p.D290N|RP11-38L15.3_ENST00000506914.1_RNA|SYT15_ENST00000374321.4_Missense_Mutation_p.D290N|SYT15_ENST00000503753.1_Missense_Mutation_p.D290N			Q9BQS2	SYT15_HUMAN	synaptotagmin XV	290	C2 2.					integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						CTCAGGTAGTCGTTGTAGCTG	0.622000													12	19					0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70974854	70974854	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr12:70974854C>T	ENST00000334414.6	-	10	2584	c.2540G>A	c.(2539-2541)gGg>gAg	p.G847E	PTPRB_ENST00000261266.5_Missense_Mutation_p.G629E|PTPRB_ENST00000551525.1_Missense_Mutation_p.G846E|PTPRB_ENST00000451516.2_Missense_Mutation_p.G539E|PTPRB_ENST00000538708.1_Missense_Mutation_p.G629E|PTPRB_ENST00000550857.1_Missense_Mutation_p.G539E|PTPRB_ENST00000550358.1_Missense_Mutation_p.G847E	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	629	Fibronectin type-III 10.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GGAAGAGATCCCTCCACTCAC	0.468000													32	19					0	0	1	0	0
ABHD8	79575	broad.mit.edu	37	19	17412109	17412109	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr19:17412109C>T	ENST00000247706.3	-	2	556	c.317G>A	c.(316-318)gGg>gAg	p.G106E	MRPL34_ENST00000600434.1_Intron|MRPL34_ENST00000595444.1_Intron	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	106							hydrolase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						GCCATTCTGCCCGTGTAGGAG	0.721000													21	39					0	0	1	0	0
OFCC1	266553	broad.mit.edu	37	6	9897144	9897144	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr6:9897144C>T	ENST00000316020.6	-	7	803	c.804G>A	c.(802-804)agG>agA	p.R268R	OFCC1_ENST00000472329.1_5'UTR					orofacial cleft 1 candidate 1											endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)	11	Ovarian(93;0.0473)|Breast(50;0.201)	all_hematologic(90;0.124)				TATAGTACCTCCTGCTTCTGA	0.418000													19	18					0	0	1	0	0
ADCY3	109	broad.mit.edu	37	2	25062747	25062747	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:25062747G>A	ENST00000260600.5	-	6	2201	c.1350C>T	c.(1348-1350)atC>atT	p.I450I	ADCY3_ENST00000405392.1_Silent_p.I61I	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	450					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					CTCACCCAGGGATGCCGCCGG	0.672000													61	59					0	0	1	0	0
SCUBE1	80274	broad.mit.edu	37	22	43617285	43617285	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr22:43617285G>A	ENST00000360835.3	-	13	1569	c.1443C>T	c.(1441-1443)acC>acT	p.T481T		NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	481					adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				TGATGGGGGTGGTGGGGGCAT	0.652000													25	50					0	0	1	0	0
PPL	5493	broad.mit.edu	37	16	4944606	4944606	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr16:4944606C>T	ENST00000345988.2	-	12	1345	c.1256G>A	c.(1255-1257)cGg>cAg	p.R419Q	PPL_ENST00000590782.2_Missense_Mutation_p.R417Q	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN	periplakin	419					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						GCTGTAGCCCCGCGAGATCAG	0.647000													11	50					0	0	1	0	0
NOLC1	9221	broad.mit.edu	37	10	103919770	103919770	+	Missense_Mutation	SNP	G	G	C			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr10:103919770G>C	ENST00000405356.1	+	8	1242	c.1007G>C	c.(1006-1008)aGt>aCt	p.S336T	NOLC1_ENST00000488254.2_Missense_Mutation_p.S327T|NOLC1_ENST00000605788.1_Missense_Mutation_p.S326T|NOLC1_ENST00000603742.1_Missense_Mutation_p.S45T			Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	326	11 X 12 AA approximate repeats of an acidic serine cluster.|Interacts with RPA194.				mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		GAAGACAGCAGTGATGAGTCT	0.587000													6	0					0	0	1	0	0
TMC2	117532	broad.mit.edu	37	20	2591227	2591227	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr20:2591227G>A	ENST00000358864.1	+	12	1591	c.1576G>A	c.(1576-1578)Gat>Aat	p.D526N	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	526						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GGCCCTGATGGATGACGTCCA	0.468000													12	34					0	0	1	0	0
SERPINA7	6906	broad.mit.edu	37	X	105280496	105280496	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chrX:105280496A>T	ENST00000327674.4	-	1	889	c.554T>A	c.(553-555)gTt>gAt	p.V185D	SERPINA7_ENST00000372563.1_Missense_Mutation_p.V185D			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	185					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	TAGACCCACAACTTTCCCTTT	0.408000													69	12					0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56369489	56369489	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr19:56369489G>A	ENST00000301295.6	+	3	1152	c.730G>A	c.(730-732)Gat>Aat	p.D244N	NLRP4_ENST00000587891.1_Missense_Mutation_p.D169N|NLRP4_ENST00000346986.5_Missense_Mutation_p.D244N	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	244	NACHT.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GAACGAACCCGATTCGGATCT	0.562000													38	49					0	0	1	0	0
CIT	11113	broad.mit.edu	37	12	120150489	120150489	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr12:120150489G>A	ENST00000392521.2	-	36	4646	c.4591C>T	c.(4591-4593)Ccg>Tcg	p.P1531S	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Missense_Mutation_p.P1489S	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	1489	PH.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TCTTCCACCGGCCTCTGTCCA	0.512000													27	23					0	0	1	0	0
OR4C46	119749	broad.mit.edu	37	11	51515514	51515514	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:51515514A>C	ENST00000328188.1	+	1	233	c.233A>C	c.(232-234)aAc>aCc	p.N78T		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						AATACCCCTAACCTGATCACA	0.493000													34	113					0	0	1	0	0
AP1G1	164	broad.mit.edu	37	16	71798560	71798560	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr16:71798560T>A	ENST00000299980.4	-	8	1249	c.808A>T	c.(808-810)Ata>Tta	p.I270L	AP1G1_ENST00000423132.2_Missense_Mutation_p.I273L|AP1G1_ENST00000393512.3_Missense_Mutation_p.I273L|AP1G1_ENST00000569748.1_Missense_Mutation_p.I270L|AP1G1_ENST00000433195.2_Missense_Mutation_p.I293L	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	270					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				TGTGCTAATATATCATTCATA	0.318000													16	18					0	0	1	0	0
XKRX	402415	broad.mit.edu	37	X	100169470	100169470	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chrX:100169470G>A	ENST00000328526.5	-	3	1811	c.1246C>T	c.(1246-1248)Cag>Tag	p.Q416*	XKRX_ENST00000468904.1_3'UTR|XKRX_ENST00000372956.2_Nonsense_Mutation_p.Q403*	NM_212559.2	NP_997724.2	Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related, X-linked	403						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						TGCAAGTACTGGAAGAAAAGG	0.453000													50	4					0	0	1	0	0
CPLX4	339302	broad.mit.edu	37	18	56963995	56963995	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr18:56963995C>T	ENST00000299721.3	-	3	604	c.418G>A	c.(418-420)Gaa>Aaa	p.E140K	CPLX4_ENST00000587244.1_Intron	NM_181654.3	NP_857637.1	Q7Z7G2	CPLX4_HUMAN	complexin 4	140					exocytosis|neurotransmitter transport	cell junction|synapse	syntaxin binding			autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	16		Colorectal(73;0.175)				TGGGCTTTTTCTTTTATGGTA	0.483000													5	40					0	0	1	0	0
CHRM5	1133	broad.mit.edu	37	15	34356466	34356466	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr15:34356466G>A	ENST00000383263.5	+	3	2218	c.1548G>A	c.(1546-1548)aaG>aaA	p.K516K	CHRM5_ENST00000557872.1_Silent_p.K516K	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	516					cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)	GATGGAAAAAGAAAAAAGTGG	0.463000													26	23					0	0	1	0	0
OPN4	94233	broad.mit.edu	37	10	88417909	88417909	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr10:88417909C>T	ENST00000372071.2	+	4	671	c.444C>T	c.(442-444)ctC>ctT	p.L148L	OPN4_ENST00000241891.5_Silent_p.L137L	NM_001030015.2	NP_001025186.1	Q9UHM6	OPN4_HUMAN	opsin 4	137					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						AGCAGTGGCTCTTTGGGGAGA	0.567000													25	4					0	0	1	0	0
NPHS1	4868	broad.mit.edu	37	19	36322248	36322248	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr19:36322248C>T	ENST00000378910.5	-	26	3336	c.3337G>A	c.(3337-3339)Gaa>Aaa	p.E1113K	NPHS1_ENST00000353632.6_Missense_Mutation_p.E1073K	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	1113					cell adhesion|excretion|muscle organ development	integral to plasma membrane		p.E1113K(1)		NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCCTCATATTCGTTCCTGACT	0.632000													39	53					0	0	1	0	0
PAX9	5083	broad.mit.edu	37	14	37132354	37132354	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr14:37132354A>C	ENST00000361487.6	+	2	482	c.257A>C	c.(256-258)cAc>cCc	p.H86P	PAX9_ENST00000554201.1_5'UTR|PAX9_ENST00000402703.2_Missense_Mutation_p.H86P			P55771	PAX9_HUMAN	paired box 9	86	Paired.				multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(3)	12	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)		GTGGTGAAACACATCCGGACC	0.642000													17	50					0	0	1	0	0
ZNF668	79759	broad.mit.edu	37	16	31072631	31072631	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr16:31072631C>T	ENST00000538906.1	-	3	2402	c.1618G>A	c.(1618-1620)Gag>Aag	p.E540K	ZNF668_ENST00000394983.2_Missense_Mutation_p.E540K|ZNF668_ENST00000535577.1_Missense_Mutation_p.E540K|ZNF668_ENST00000539836.3_Missense_Mutation_p.E563K|ZNF668_ENST00000426488.2_Missense_Mutation_p.E563K|ZNF668_ENST00000300849.4_Missense_Mutation_p.E540K	NM_001172668.1	NP_001166139.1	Q96K58	ZN668_HUMAN	zinc finger protein 668	540					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GGCCGGAGCTCCGGGTGTGAG	0.652000													48	40					0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23913568	23913568	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr13:23913568G>A	ENST00000382298.3	-	10	5035	c.4447C>T	c.(4447-4449)Caa>Taa	p.Q1483*	SACS_ENST00000382292.3_Nonsense_Mutation_p.Q1483*|SACS_ENST00000402364.1_Nonsense_Mutation_p.Q733*	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	1483					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			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)		TCAGCGTTTTGAAGTAGTTCT	0.383000													32	4					0	0	1	0	0
ACOXL	55289	broad.mit.edu	37	2	111789239	111789239	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:111789239G>A	ENST00000389811.4	+	16	1631	c.1407G>A	c.(1405-1407)tgG>tgA	p.W469*	ACOXL_ENST00000439055.1_Nonsense_Mutation_p.W439*			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	469					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						TCCATGCCTGGAACTCGTGTC	0.458000													29	34					0	0	1	0	0
BCO2	83875	broad.mit.edu	37	11	112070435	112070435	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:112070435G>A	ENST00000357685.5	+	6	885	c.750G>A	c.(748-750)aaG>aaA	p.K250K	BCO2_ENST00000438022.1_Silent_p.K216K|BCO2_ENST00000393032.2_Silent_p.K216K|BCO2_ENST00000361053.4_Silent_p.K177K|BCO2_ENST00000531169.1_Silent_p.K216K|BCO2_ENST00000526088.1_Silent_p.K216K|BCO2_ENST00000532593.1_Silent_p.K145K|SDHD_ENST00000532612.1_3'UTR			Q9BYV7	BCDO2_HUMAN	beta-carotene oxygenase 2	250					carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						TCTCCTATAAGGTTATTCGGG	0.408000													15	49					0	0	1	0	0
PIEZO2	63895	broad.mit.edu	37	18	10697801	10697801	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr18:10697801A>G	ENST00000302079.6	-	41	6432	c.6433T>C	c.(6433-6435)Tat>Cat	p.Y2145H	PIEZO2_ENST00000503781.3_Missense_Mutation_p.Y2145H|PIEZO2_ENST00000285141.4_5'UTR|PIEZO2_ENST00000538948.1_Missense_Mutation_p.Y102H|PIEZO2_ENST00000580640.1_Missense_Mutation_p.Y2170H			Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2145						integral to membrane	ion channel activity										TTTTCCATATAAAGTTCCCTT	0.363000													5	35					0	0	1	0	0
ATP13A4	84239	broad.mit.edu	37	3	193210749	193210749	+	Nonsense_Mutation	SNP	G	G	A	rs149579644	byFrequency	TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:193210749G>A	ENST00000342695.4	-	5	812	c.490C>T	c.(490-492)Caa>Taa	p.Q164*	ATP13A4_ENST00000295548.3_Nonsense_Mutation_p.Q164*|ATP13A4_ENST00000392443.3_Nonsense_Mutation_p.Q164*	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	164					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		CCAAATTTTTGATGTATCTTG	0.303000													12	42					0	0	1	0	0
POP1	10940	broad.mit.edu	37	8	99139910	99139910	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr8:99139910C>T	ENST00000401707.2	+	3	311	c.230C>T	c.(229-231)tCc>tTc	p.S77F	POP1_ENST00000349693.3_Missense_Mutation_p.S77F	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	77					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			CAGTCTTCCTCCAAAGGGATG	0.493000													36	160					0	0	1	0	0
SESTD1	91404	broad.mit.edu	37	2	179977461	179977461	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:179977461A>T	ENST00000428443.3	-	17	2267	c.1951T>A	c.(1951-1953)Tat>Aat	p.Y651N		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	651					regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			CCATCAGGATAAACTACTGGA	0.338000													30	27					0	0	1	0	0
GCC2	9648	broad.mit.edu	37	2	109099571	109099571	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:109099571G>A	ENST00000309863.6	+	12	4113	c.3399G>A	c.(3397-3399)aaG>aaA	p.K1133K		NM_181453.3	NP_852118.1	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	1133					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						AACTTCAAAAGCAAAAGAAAC	0.318000													7	20					0	0	1	0	0
TMTC4	84899	broad.mit.edu	37	13	101315308	101315308	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr13:101315308G>A	ENST00000342624.5	-	5	720	c.462C>T	c.(460-462)taC>taT	p.Y154Y	TMTC4_ENST00000328767.5_Intron|TMTC4_ENST00000376234.3_Silent_p.Y135Y	NM_032813.2	NP_116202.2	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	135						integral to membrane	binding			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CTTTACTGGTGTACTGCAGGC	0.617000													50	200					0	0	1	0	0
LILRB2	10288	broad.mit.edu	37	19	54782677	54782677	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr19:54782677G>A	ENST00000391748.1	-	6	1072	c.945C>T	c.(943-945)atC>atT	p.I315I	LILRB2_ENST00000434421.1_Silent_p.I199I|LILRB2_ENST00000391746.1_Silent_p.I315I|LILRB2_ENST00000391749.4_Silent_p.I315I|LILRB2_ENST00000314446.5_Silent_p.I315I	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	315	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CTGTGATCAGGATGTCCAGGG	0.652000													13	27					0	0	1	0	0
NDUFA6	4700	broad.mit.edu	37	22	42483172	42483172	+	Silent	SNP	T	T	C			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr22:42483172T>C	ENST00000498737.2	-	2	357	c.225A>G	c.(223-225)caA>caG	p.Q75Q	NDUFA6_ENST00000602404.1_Silent_p.Q49Q|SMDT1_ENST00000547929.1_Intron|NDUFA6_ENST00000470753.1_5'UTR	NM_002490.3	NP_002481.2	P56556	NDUA6_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 6, 14kDa	75					mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			kidney(1)|lung(3)|upper_aerodigestive_tract(1)	5					NADH(DB00157)	CCAGCTGGAATTGGTGCACTA	0.428000													43	88					0	0	1	0	0
IKBKAP	8518	broad.mit.edu	37	9	111670604	111670604	+	Missense_Mutation	SNP	G	G	A	rs139472133		TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr9:111670604G>A	ENST00000374647.5	-	13	1748	c.1441C>T	c.(1441-1443)Cat>Tat	p.H481Y	IKBKAP_ENST00000537196.1_Missense_Mutation_p.H132Y	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	481					immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TTTTCCAAATGAGGAGTTCTA	0.423000													27	0					0	0	1	0	0
FAM65B	9750	broad.mit.edu	37	6	24873936	24873936	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr6:24873936G>A	ENST00000259698.4	-	3	368	c.193C>T	c.(193-195)Ccc>Tcc	p.P65S	FAM65B_ENST00000540914.1_Missense_Mutation_p.P65S|FAM65B_ENST00000538035.1_Missense_Mutation_p.P94S|FAM65B_ENST00000510784.2_Missense_Mutation_p.P99S|FAM65B_ENST00000378023.4_Missense_Mutation_p.P65S	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	65	Involved in cell filopodia formation.				cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						TCTTTGGGGGGATTGTTGTTT	0.418000													41	46					0	0	1	0	0
KITLG	4254	broad.mit.edu	37	12	88912642	88912642	+	Silent	SNP	T	T	C			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr12:88912642T>C	ENST00000347404.5	-	4	767	c.195A>G	c.(193-195)ccA>ccG	p.P65P	KITLG_ENST00000228280.5_Silent_p.P65P|KITLG_ENST00000378535.4_5'UTR|KITLG_ENST00000357116.4_Intron	NM_003994.5	NP_003985.2	P21583	SCF_HUMAN	KIT ligand	65					cell adhesion|cell proliferation|hemopoiesis|male gonad development|positive regulation of DNA replication|signal transduction	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	growth factor activity|identical protein binding|stem cell factor receptor binding			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)	9						AACAATGACTTGGCTGCAAGA	0.348000									Testicular Cancer, Familial Clustering of				8	20					0	0	1	0	0
PRR14	78994	broad.mit.edu	37	16	30666294	30666294	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr16:30666294C>T	ENST00000542965.2	+	7	1459	c.1003C>T	c.(1003-1005)Cct>Tct	p.P335S	PRR14_ENST00000571654.1_3'UTR|PRR14_ENST00000300835.4_Missense_Mutation_p.P335S			Q9BWN1	PRR14_HUMAN	proline rich 14	335	Pro-rich.									breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			CTACTCCTGCCCTGATCTGGG	0.682000													30	45					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36874347	36874347	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:36874347G>A	ENST00000301807.6	-	21	6842	c.4945C>T	c.(4945-4947)Cct>Tct	p.P1649S	TRANK1_ENST00000429976.2_Missense_Mutation_p.P2199S|TRANK1_ENST00000428977.2_Missense_Mutation_p.P1649S	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2199					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						AAGATTTTAGGGAATACTTTT	0.403000													7	23					0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70333016	70333016	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:70333016C>T	ENST00000338508.4	-	32	3384	c.3385G>A	c.(3385-3387)Gag>Aag	p.E1129K	SHANK2_ENST00000449833.2_Missense_Mutation_p.E533K|SHANK2_ENST00000423696.2_Missense_Mutation_p.E749K|SHANK2_ENST00000409161.1_Missense_Mutation_p.E532K			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	749					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TCCCCCTCCTCGGGGAACATG	0.677000													10	45					0	0	1	0	0
RUNX1T1	862	broad.mit.edu	37	8	92999199	92999199	+	Splice_Site	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr8:92999199C>T	ENST00000523629.1	-	8	1447	c.991_splice	c.e8-1	p.G331_splice	RUNX1T1_ENST00000396218.1_Splice_Site_p.G304_splice|RUNX1T1_ENST00000520724.1_Splice_Site_p.G294_splice|RUNX1T1_ENST00000265814.3_Splice_Site_p.G331_splice|RUNX1T1_ENST00000436581.2_Splice_Site_p.G342_splice|RUNX1T1_ENST00000518844.1_Splice_Site_p.G304_splice|RUNX1T1_ENST00000360348.2_Splice_Site_p.G294_splice|RUNX1T1_ENST00000422361.2_Splice_Site_p.G294_splice	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	331					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TGCCATGCAACCCTACAAAAA	0.413000													48	133					0	0	1	0	0
PHLDB2	90102	broad.mit.edu	37	3	111638045	111638045	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:111638045G>A	ENST00000431670.2	+	4	2257	c.1846G>A	c.(1846-1848)Gat>Aat	p.D616N	PHLDB2_ENST00000481953.1_Missense_Mutation_p.D616N|PHLDB2_ENST00000393923.3_Missense_Mutation_p.D643N|PHLDB2_ENST00000412622.1_Missense_Mutation_p.D616N|PHLDB2_ENST00000393925.3_Missense_Mutation_p.D616N|PHLDB2_ENST00000495180.1_Missense_Mutation_p.D202N	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	616						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						TGATCAGATGGATGAGTCTTT	0.383000													41	31					0	0	1	0	0
ADRA2B	151	broad.mit.edu	37	2	96781866	96781866	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:96781866G>A	ENST00000409345.3	-	1	118	c.23C>T	c.(22-24)tCc>tTc	p.S8F		NM_000682.5	NP_000673.2	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	8					activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	GGCCTGCACGGAGTAGGGGTC	0.672000													5	11					0	0	1	0	0
ATP9B	374868	broad.mit.edu	37	18	77104307	77104307	+	Nonsense_Mutation	SNP	C	C	T	rs147932692		TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr18:77104307C>T	ENST00000426216.2	+	21	2442	c.2425C>T	c.(2425-2427)Cga>Tga	p.R809*	ATP9B_ENST00000543761.1_Nonsense_Mutation_p.R130*|ATP9B_ENST00000307671.7_Nonsense_Mutation_p.R809*	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	809					ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		GAATGCATTTCGAAGGAAGCA	0.473000													6	41					0	0	1	0	0
SYT9	143425	broad.mit.edu	37	11	7439335	7439335	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:7439335C>T	ENST00000318881.6	+	5	1550	c.1313C>T	c.(1312-1314)tCc>tTc	p.S438F		NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	438	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		ATCCACTTGTCCATAGCAGTC	0.502000													20	58					0	0	1	0	0
DPH1	1801	broad.mit.edu	37	17	1936816	1936816	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr17:1936816C>T	ENST00000263083.6	+	2	139	c.94C>T	c.(94-96)Cgc>Tgc	p.R32C	DPH1_ENST00000570477.1_5'UTR	NM_001383.3	NP_001374.3	Q9BZG8	DPH1_HUMAN	diphthamide biosynthesis 1	32					peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation	cytoplasm|nucleus				endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						CCCTCGGGGCCGCGTGGCCAA	0.562000													59	11					0	0	1	0	0
USP33	23032	broad.mit.edu	37	1	78189114	78189114	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:78189114G>A	ENST00000370793.1	-	13	1730	c.1384C>T	c.(1384-1386)Cca>Tca	p.P462S	USP33_ENST00000370792.3_Missense_Mutation_p.P462S|USP33_ENST00000370794.3_Missense_Mutation_p.P431S|USP33_ENST00000357428.1_Missense_Mutation_p.P462S	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	462					axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						TTTCTCTTTGGAGATGCAGAC	0.338000													22	4					0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52539134	52539134	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:52539134C>T	ENST00000321725.6	+	13	1569	c.1493C>T	c.(1492-1494)cCc>cTc	p.P498L		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	498					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TGGCAGGCCCCCTCTGGGACC	0.612000													27	100					0	0	1	0	0
NXPH4	11247	broad.mit.edu	37	12	57619023	57619023	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr12:57619023C>T	ENST00000349394.5	+	2	595	c.420C>T	c.(418-420)ttC>ttT	p.F140F	NXPH4_ENST00000555154.1_3'UTR	NM_007224.3	NP_009155.1	O95158	NXPH4_HUMAN	neurexophilin 4	140	III.				neuropeptide signaling pathway	extracellular region				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)	10						GTGTGTATTTCCGCCACAACT	0.607000													34	30					0	0	1	0	0
ADORA3	140	broad.mit.edu	37	1	112031527	112031527	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:112031527G>A	ENST00000369716.4	-	3	710	c.577C>T	c.(577-579)Cgt>Tgt	p.R193C	ADORA3_ENST00000369717.4_Missense_Mutation_p.R112C	NM_020683.6	NP_065734.5	P33765	AA3R_HUMAN	adenosine A3 receptor	0					activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	CAGTAGTCACGGAAATAGCCT	0.517000													67	1					0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65392291	65392291	+	Translation_Start_Site	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chrX:65392291G>A	ENST00000336279.5	+	0	299				HEPH_ENST00000419594.1_Missense_Mutation_p.D91N|HEPH_ENST00000374727.3_Missense_Mutation_p.D91N|HEPH_ENST00000441993.2_Missense_Mutation_p.D91N|HEPH_ENST00000519389.1_Missense_Mutation_p.D142N|HEPH_ENST00000343002.2_Missense_Mutation_p.D88N	NM_014799.2	NP_055614.1	Q9BQS7	HEPH_HUMAN	hephaestin						cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CTCATACACAGATGAAGTGGC	0.498000													14	2					0	0	1	0	0
GLRB	2743	broad.mit.edu	37	4	158074127	158074127	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr4:158074127G>A	ENST00000264428.4	+	9	1432	c.1162G>A	c.(1162-1164)Gga>Aga	p.G388R	GLRB_ENST00000541722.1_Intron|GLRB_ENST00000509282.1_Missense_Mutation_p.G388R|GLRB_ENST00000512619.1_Intron	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	388					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	TACTGTGAATGGAACAGGGAC	0.418000													16	28					0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121786854	121786854	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr5:121786854C>T	ENST00000261367.7	+	12	3881	c.2453C>T	c.(2452-2454)cCa>cTa	p.P818L	SNCAIP_ENST00000379533.2_Missense_Mutation_p.P818L|CTC-210G5.1_ENST00000505546.1_RNA|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000414317.2_Missense_Mutation_p.P373L|SNCAIP_ENST00000379536.2_Missense_Mutation_p.P711L|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000261368.8_Missense_Mutation_p.P771L|SNCAIP_ENST00000542191.1_Missense_Mutation_p.P329L|SNCAIP_ENST00000503116.2_3'UTR|CTC-210G5.1_ENST00000506053.1_RNA|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000379538.3_Missense_Mutation_p.P405L			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	771					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		AGTATTCCTCCAAACCAGCCC	0.572000													16	3					0	0	1	0	0
OSBPL3	26031	broad.mit.edu	37	7	24870477	24870477	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr7:24870477G>A	ENST00000313367.2	-	16	2245	c.1794C>T	c.(1792-1794)taC>taT	p.Y598Y	OSBPL3_ENST00000431825.2_Silent_p.Y531Y|OSBPL3_ENST00000353930.1_Silent_p.Y562Y|OSBPL3_ENST00000352860.1_Silent_p.Y567Y|OSBPL3_ENST00000409069.1_Silent_p.Y531Y|OSBPL3_ENST00000396429.1_Silent_p.Y562Y|OSBPL3_ENST00000396431.1_Silent_p.Y567Y	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	598					lipid transport		lipid binding|protein binding	p.Y598Y(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						TTCCAGCTCGGTAGTAGCTAG	0.428000													73	118					0	0	1	0	0
FHDC1	85462	broad.mit.edu	37	4	153897235	153897235	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr4:153897235C>T	ENST00000511601.1	+	12	2980	c.2792C>T	c.(2791-2793)cCc>cTc	p.P931L	FHDC1_ENST00000260008.3_Missense_Mutation_p.P931L			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	931					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					TCCCAGAATCCCCCCAGCAGC	0.677000													15	26					0	0	1	0	0
ATP12A	479	broad.mit.edu	37	13	25281188	25281188	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr13:25281188G>A	ENST00000218548.6	+	16	2548	c.2215G>A	c.(2215-2217)Gga>Aga	p.G739R	ATP12A_ENST00000381946.3_Missense_Mutation_p.G733R	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	733					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	GACCGGGGATGGAGTTAATGA	0.557000													21	8					0	0	1	0	0
XKR7	343702	broad.mit.edu	37	20	30584972	30584972	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr20:30584972G>A	ENST00000217299.3	+	3	1626	c.1452G>A	c.(1450-1452)cgG>cgA	p.R484R		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	484						integral to membrane				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)			GTGCTGAGCGGGATGGGGCCT	0.687000													30	46					0	0	1	0	0
B4GALNT3	283358	broad.mit.edu	37	12	665887	665887	+	Silent	SNP	C	C	T	rs139340276	byFrequency	TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr12:665887C>T	ENST00000266383.5	+	15	2248	c.2235C>T	c.(2233-2235)gtC>gtT	p.V745V		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	745						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			GGGAGGAGGTCGAGGCCCGGA	0.637000													7	5					0	0	1	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18716344	18716344	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr12:18716344G>A	ENST00000433979.1	+	27	3807	c.3691G>A	c.(3691-3693)Gaa>Aaa	p.E1231K	PIK3C2G_ENST00000538779.1_Missense_Mutation_p.E1272K|PIK3C2G_ENST00000266497.5_Missense_Mutation_p.E1231K	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	1231	PX.				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			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)				CAGCAACAACGAAACAAGCCT	0.418000													5	13					0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118657941	118657941	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:118657941C>T	ENST00000336338.5	-	4	504	c.439G>A	c.(439-441)Gaa>Aaa	p.E147K		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	147	Lys-rich.					cilium|flagellar axoneme|microtubule				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)		ACCTTCTTTTCATTTTCCCGT	0.423000													131	13					0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78320598	78320598	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr17:78320598C>T	ENST00000582970.1	+	29	8606	c.8463C>T	c.(8461-8463)acC>acT	p.T2821T	RNF213_ENST00000336301.6_Silent_p.T894T|RNF213_ENST00000508628.2_Silent_p.T2870T	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										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)			TCATCAGCACCTTCCGGCAGT	0.622000													23	7					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60913306	60913306	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr20:60913306G>A	ENST00000252999.3	-	13	1804	c.1738C>T	c.(1738-1740)Cac>Tac	p.H580Y		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	580	Laminin EGF-like 5.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGAGGGAAGTGAAAGTAGCCG	0.667000													9	12					0	0	1	0	0
FAM120C	54954	broad.mit.edu	37	X	54161361	54161361	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chrX:54161361G>A	ENST00000375180.2	-	7	1575	c.1519C>T	c.(1519-1521)Ccc>Tcc	p.P507S	FAM120C_ENST00000328235.4_Missense_Mutation_p.P507S	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	507										breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						AGGTAATTGGGAAACTGGGAT	0.512000													15	1					0	0	1	0	0
TAB1	10454	broad.mit.edu	37	22	39811063	39811063	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr22:39811063T>C	ENST00000216160.6	+	2	148	c.86T>C	c.(85-87)gTt>gCt	p.V29A	TAB1_ENST00000331454.3_Missense_Mutation_p.V29A	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 1	29					activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane	catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						CTCTCTGGGGTTGGCTCAGCC	0.632000													19	27					0	0	1	0	0
CABP1	9478	broad.mit.edu	37	12	121099006	121099006	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr12:121099006C>T	ENST00000453000.1	+	5	1392	c.880C>T	c.(880-882)Cga>Tga	p.R294*	CABP1_ENST00000288616.3_Nonsense_Mutation_p.R215*|CABP1_ENST00000351200.2_Nonsense_Mutation_p.R155*|CABP1_ENST00000316803.3_Nonsense_Mutation_p.R358*			Q9NZU7	CABP1_HUMAN	calcium binding protein 1	358	EF-hand 2.					cell cortex|cell junction|Golgi apparatus|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|calcium-dependent protein binding|enzyme inhibitor activity|protein binding			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TGGGGATGGACGAGTGGACTT	0.537000													6	33					0	0	1	0	0
ITSN1	6453	broad.mit.edu	37	21	35186362	35186362	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr21:35186362C>T	ENST00000381318.3	+	22	3001	c.2713C>T	c.(2713-2715)Cct>Tct	p.P905S	ITSN1_ENST00000399349.1_Missense_Mutation_p.P900S|ITSN1_ENST00000381285.4_Missense_Mutation_p.P905S|ITSN1_ENST00000381291.4_Missense_Mutation_p.P905S|ITSN1_ENST00000399326.3_Missense_Mutation_p.P900S|ITSN1_ENST00000399355.2_Missense_Mutation_p.P905S|ITSN1_ENST00000437442.2_Missense_Mutation_p.P900S|ITSN1_ENST00000399338.4_Missense_Mutation_p.P900S|ITSN1_ENST00000399352.1_Missense_Mutation_p.P900S|ITSN1_ENST00000399353.1_Missense_Mutation_p.P863S|ITSN1_ENST00000399367.3_Missense_Mutation_p.P900S|ITSN1_ENST00000379960.5_Missense_Mutation_p.P900S|AP000304.12_ENST00000429238.1_Intron	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	905					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						CTCCCCGTCTCCTGTGCTAGG	0.547000													12	16					0	0	1	0	0
KIF15	56992	broad.mit.edu	37	3	44856527	44856527	+	Silent	SNP	C	C	T	rs141676463	byFrequency	TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:44856527C>T	ENST00000326047.4	+	20	2657	c.2508C>T	c.(2506-2508)tcC>tcT	p.S836S	KIF15_ENST00000425755.1_Silent_p.S471S	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	836					blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		ACAAACTTTCCGAAAGACACA	0.383000													15	46					0	0	1	0	0
GTF3C3	9330	broad.mit.edu	37	2	197640835	197640835	+	Splice_Site	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:197640835C>T	ENST00000263956.3	-	12	1683	c.1593_splice	c.e12-1	p.E532_splice		NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	532						transcription factor TFIIIC complex	DNA binding|protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						AACTTCAGTTCCTAAACAAAT	0.308000													17	30					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179605572	179605572	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:179605572C>T	ENST00000589042.1	-	48	12612	c.12388G>A	c.(12388-12390)Gaa>Aaa	p.E4130K	TTN_ENST00000342175.6_Missense_Mutation_p.E3959K|TTN_ENST00000591111.1_Missense_Mutation_p.E3813K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E3767K|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E3892K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3813							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			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)			CAAAGAAATTCCCTGGTGCTT	0.453000													34	45					0	0	1	0	0
CABP4	57010	broad.mit.edu	37	11	67226103	67226103	+	Splice_Site	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:67226103G>A	ENST00000438189.2	+	7	830	c.484_splice	c.e7-1	p.E162_splice	CABP4_ENST00000325656.5_Splice_Site_p.E267_splice			P57796	CABP4_HUMAN	calcium binding protein 4	267	EF-hand 1.				visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding			central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			CTCCCGCAGAGTTTGTGATGA	0.652000													33	16					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110492257	110492257	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr8:110492257G>A	ENST00000378402.5	+	55	9320	c.9216G>A	c.(9214-9216)atG>atA	p.M3072I		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3072	G8 2.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TGCCATCAATGGAAAGACTCA	0.328000										HNSCC(38;0.096)			5	11					0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46795743	46795743	+	Silent	SNP	G	G	A	rs141170525		TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr22:46795743G>A	ENST00000262738.3	-	10	5282	c.5283C>T	c.(5281-5283)tcC>tcT	p.S1761S		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1761	Laminin G-like 2.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		ACAGCATCACGGACTCCACAT	0.567000													27	34					0	0	1	0	0
TM4SF1	4071	broad.mit.edu	37	3	149095217	149095217	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:149095217C>T	ENST00000305366.3	-	1	435	c.118G>A	c.(118-120)Gaa>Aaa	p.E40K		NM_014220.2	NP_055035.1	P30408	T4S1_HUMAN	transmembrane 4 L six family member 1	40						integral to plasma membrane				endometrium(3)|large_intestine(1)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			AGGTGGTTTTCGGAGGCATAC	0.502000													10	27					0	0	1	0	0
POU3F3	5455	broad.mit.edu	37	2	105473139	105473139	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:105473139A>T	ENST00000361360.2	+	1	1171	c.1171A>T	c.(1171-1173)Acc>Tcc	p.T391S	RP11-13J10.1_ENST00000598623.1_RNA	NM_006236.1	NP_006227.1	P20264	PO3F3_HUMAN	POU class 3 homeobox 3	391					metanephric ascending thin limb development|metanephric DCT cell differentiation|metanephric macula densa development|metanephric thick ascending limb development|negative regulation of apoptosis|positive regulation of cell proliferation	nucleus	sequence-specific DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						GGACTCAAGCACCGGCAGCCC	0.632000													11	17					0	0	1	0	0
KIDINS220	57498	broad.mit.edu	37	2	8871128	8871128	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:8871128G>A	ENST00000256707.3	-	30	5219	c.5038C>T	c.(5038-5040)Ccc>Tcc	p.P1680S	KIDINS220_ENST00000473731.1_Missense_Mutation_p.P1661S|KIDINS220_ENST00000427284.1_Missense_Mutation_p.P1661S|KIDINS220_ENST00000418530.1_Missense_Mutation_p.P1581S	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1680					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ACGGTGCTGGGAGTTCGGTTC	0.478000													38	32					0	0	1	0	0
CDH12	1010	broad.mit.edu	37	5	21752163	21752163	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr5:21752163G>A	ENST00000382254.1	-	15	3154	c.2068C>T	c.(2068-2070)Cgc>Tgc	p.R690C	RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Missense_Mutation_p.R690C|CDH12_ENST00000522262.1_Missense_Mutation_p.R650C	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	690					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						ATATCCCTGCGAATTTTGTTC	0.463000										HNSCC(59;0.17)			29	73					0	0	1	0	0
ST8SIA3	51046	broad.mit.edu	37	18	55027332	55027332	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr18:55027332C>T	ENST00000324000.3	+	4	3001	c.967C>T	c.(967-969)Ccg>Tcg	p.P323S		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	323					glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		TGGATTTTGGCCGTTTGGATT	0.428000													27	15					0	0	1	0	0
MAN2A2	4122	broad.mit.edu	37	15	91448630	91448630	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr15:91448630C>T	ENST00000360468.3	+	2	300	c.282C>T	c.(280-282)gtC>gtT	p.V94V	MAN2A2_ENST00000559717.1_Silent_p.V94V	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	94					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			ACTACACGGTCAATGGCTCCT	0.632000													57	44					0	0	1	0	0
SLC6A14	11254	broad.mit.edu	37	X	115590032	115590032	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chrX:115590032C>T	ENST00000371900.4	+	14	1928	c.1840C>T	c.(1840-1842)Cgt>Tgt	p.R614C	SLC6A14_ENST00000463626.1_3'UTR	NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	614					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	GGAACAACATCGTGGGGAAAG	0.408000													45	5					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73716847	73716847	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:73716847C>T	ENST00000264448.6	+	10	7869	c.7758C>T	c.(7756-7758)ttC>ttT	p.F2586F	ALMS1_ENST00000409009.1_Silent_p.F2544F	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2586					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AGGGATGTTTCCGGACTCTAA	0.458000													60	88					0	0	1	0	0
GALNT14	79623	broad.mit.edu	37	2	31168701	31168701	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:31168701G>A	ENST00000349752.5	-	7	1329	c.690C>T	c.(688-690)atC>atT	p.I230I	GALNT14_ENST00000486564.1_5'UTR|GALNT14_ENST00000420311.2_Silent_p.I195I|GALNT14_ENST00000356174.3_Silent_p.I197I|GALNT14_ENST00000324589.5_Silent_p.I235I|GALNT14_ENST00000406653.1_Silent_p.I210I	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	230						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					CCAGGTTAATGATATCGATCA	0.547000													22	46					0	0	1	0	0
OPRL1	4987	broad.mit.edu	37	20	62729656	62729656	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr20:62729656C>T	ENST00000349451.3	+	6	1029	c.617C>T	c.(616-618)aCc>aTc	p.T206I	OPRL1_ENST00000336866.2_Missense_Mutation_p.T206I|OPRL1_ENST00000355631.4_Missense_Mutation_p.T206I	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	206					elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					GAGATCCCTACCCCTCAGGAT	0.612000													35	50					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9089999	9089999	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr19:9089999G>A	ENST00000397910.4	-	1	2019	c.1816C>T	c.(1816-1818)Ccc>Tcc	p.P606S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	606	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATCCCAGTGGGAACAGCAAAC	0.542000													21	24					0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155198941	155198941	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:155198941G>A	ENST00000460012.1	-	23	5141	c.4784C>T	c.(4783-4785)tCc>tTc	p.S1595F	PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000414191.1_Missense_Mutation_p.S1595F|PLCH1_ENST00000340059.7_Missense_Mutation_p.S1633F|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000334686.6_Missense_Mutation_p.S1595F			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1633					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TGCGATGTAGGAGCCGGTGGA	0.582000													9	37					0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28849369	28849369	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:28849369G>A	ENST00000422425.2	+	50	3665	c.3621G>A	c.(3619-3621)gaG>gaA	p.E1207E	PLB1_ENST00000327757.5_Silent_p.E1218E|PLB1_ENST00000541605.1_Silent_p.E183E	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	1218	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					ATTACTGTGAGAATCCGGTAG	0.562000													20	33					0	0	1	0	0
KCNK1	3775	broad.mit.edu	37	1	233802505	233802505	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:233802505T>C	ENST00000366621.3	+	2	688	c.520T>C	c.(520-522)Ttc>Ctc	p.F174L	KCNK1_ENST00000366620.1_Missense_Mutation_p.F58L|KCNK1_ENST00000472190.1_3'UTR	NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	174						voltage-gated potassium channel complex	inward rectifier potassium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)	CCGCTGGGGCTTCTCCAAGCA	0.612000													83	9					0	0	1	0	0
TIGD3	220359	broad.mit.edu	37	11	65123859	65123859	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:65123859C>T	ENST00000309880.5	+	2	787	c.580C>T	c.(580-582)Caa>Taa	p.Q194*		NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	194	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						TGCATGTGATCAAGTACAGGT	0.592000													49	161					0	0	1	0	0
PRSS38	339501	broad.mit.edu	37	1	228003822	228003822	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:228003822C>T	ENST00000366757.3	+	2	204	c.180C>T	c.(178-180)atC>atT	p.I60I		NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38	60	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						AGGGGAAAATCCTGGGCGGCG	0.677000													149	11					0	0	1	0	0
TCP10	6953	broad.mit.edu	37	6	167789556	167789556	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr6:167789556G>A	ENST00000366827.2	-	6	797	c.586C>T	c.(586-588)Cca>Tca	p.P196S	TCP10_ENST00000397829.4_Missense_Mutation_p.P196S			Q12799	TCP10_HUMAN	t-complex 10	223						cytosol				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		CGGGAAGATGGATGCATAATC	0.612000													7	18					0	0	1	0	0
UBA7	7318	broad.mit.edu	37	3	49850122	49850122	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:49850122C>T	ENST00000333486.3	-	5	675	c.517G>A	c.(517-519)Gag>Aag	p.E173K	UBA7_ENST00000494212.1_Intron	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	173	2 approximate repeats.				ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GGTTCTGCCTCTGTGGGGTCC	0.572000													22	15					0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47480712	47480712	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr18:47480712C>T	ENST00000285039.7	-	13	1938	c.1639G>A	c.(1639-1641)Gcc>Acc	p.A547T		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	547	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		ATGATGAAGGCCGTGTTGGAC	0.567000													41	27					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9064549	9064549	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr19:9064549C>T	ENST00000397910.4	-	3	23100	c.22897G>A	c.(22897-22899)Gaa>Aaa	p.E7633K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7635	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGGGTACTTTCTAGTGTAGAC	0.473000													24	26					0	0	1	0	0
SUN5	140732	broad.mit.edu	37	20	31577426	31577426	+	Splice_Site	SNP	C	C	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr20:31577426C>A	ENST00000356173.3	-	9	705	c.613_splice	c.e9+1	p.G205_splice	SUN5_ENST00000375523.3_Splice_Site_p.G180_splice	NM_080675.3	NP_542406.2	Q8TC36	SUN5_HUMAN	Sad1 and UNC84 domain containing 5	205	SUN.				spermatogenesis					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						GGTCACCTACCTATAGACTTC	0.493000													38	42					9.85521e-28	9.97127e-28	1	1	0
NPHS1	4868	broad.mit.edu	37	19	36342372	36342372	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr19:36342372C>T	ENST00000378910.5	-	2	260	c.261G>A	c.(259-261)ggG>ggA	p.G87G	NPHS1_ENST00000353632.6_Silent_p.G87G	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	87	Ig-like C2-type 1.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TAGCAGGGTCCCCTTCCAGGC	0.667000													9	15					0	0	1	0	0
CASR	846	broad.mit.edu	37	3	121980432	121980432	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:121980432C>T	ENST00000498619.1	+	4	988	c.550C>T	c.(550-552)Ctc>Ttc	p.L184F	CASR_ENST00000490131.1_Missense_Mutation_p.L184F|CASR_ENST00000296154.5_Missense_Mutation_p.L184F	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	184					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CAAGTCTTTCCTCCGAACCAT	0.507000													30	114					0	0	1	0	0
NEDD1	121441	broad.mit.edu	37	12	97339513	97339513	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr12:97339513C>T	ENST00000266742.4	+	14	2036	c.1697C>T	c.(1696-1698)tCa>tTa	p.S566L	NEDD1_ENST00000557644.1_Missense_Mutation_p.S573L|NEDD1_ENST00000411739.2_Missense_Mutation_p.S477L|NEDD1_ENST00000457368.2_Missense_Mutation_p.S477L|NEDD1_ENST00000429527.2_Missense_Mutation_p.S566L	NM_152905.3	NP_690869.1	Q8NHV4	NEDD1_HUMAN	neural precursor cell expressed, developmentally down-regulated 1	566					cell division|G2/M transition of mitotic cell cycle|mitosis	cytosol				breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						GTTGCCAGTTCACTCTCAGAA	0.368000													14	4					0	0	1	0	0
IARS	3376	broad.mit.edu	37	9	95003157	95003157	+	Silent	SNP	A	A	G			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr9:95003157A>G	ENST00000375643.3	-	30	3530	c.3264T>C	c.(3262-3264)tgT>tgC	p.C1088C	IARS_ENST00000443024.2_Silent_p.C1088C|IARS_ENST00000375627.1_Silent_p.C141C|IARS_ENST00000375629.3_Silent_p.C141C|IARS_ENST00000447699.2_Silent_p.C978C|IARS_ENST00000474340.1_5'UTR	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	1088					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	TGCCATTTGCACAAATGTTAA	0.373000													21	2					0	0	1	0	0
TRAPPC13	80006	broad.mit.edu	37	5	64954239	64954239	+	Silent	SNP	C	C	G			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr5:64954239C>G	ENST00000399438.3	+	9	954	c.609C>G	c.(607-609)acC>acG	p.T203T	TRAPPC13_ENST00000545191.1_Silent_p.T204T|TRAPPC13_ENST00000505553.1_Silent_p.T197T|TRAPPC13_ENST00000231526.4_Silent_p.T197T|TRAPPC13_ENST00000438419.2_Silent_p.T203T	NM_001093755.1|NM_024941.3	NP_001087224.1|NP_079217.2			trafficking protein particle complex 13																		ATATGACAACCTCACCTATGT	0.353000													7	22					0	0	1	0	0
COL20A1	57642	broad.mit.edu	37	20	61944505	61944505	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr20:61944505C>T	ENST00000422202.1	+	16	2202	c.2134C>T	c.(2134-2136)Cct>Tct	p.P712S	COL20A1_ENST00000326996.6_Missense_Mutation_p.P705S|COL20A1_ENST00000435874.1_Missense_Mutation_p.P712S|COL20A1_ENST00000358894.6_Missense_Mutation_p.P705S			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	705	Fibronectin type-III 5.				cell adhesion	collagen|extracellular space	structural molecule activity			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)					GGCCGTCCTGCCTGGCCTAGG	0.672000													18	16					0	0	1	0	0
ANPEP	290	broad.mit.edu	37	15	90349681	90349681	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr15:90349681G>A	ENST00000300060.6	-	2	447	c.134C>T	c.(133-135)cCc>cTc	p.P45L		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	45	Cytosolic Ser/Thr-rich junction.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	GGAGGCCACGGGGGAGCTGTT	0.632000													86	103					0	0	1	0	0
SLC26A10	65012	broad.mit.edu	37	12	58016845	58016845	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr12:58016845C>T	ENST00000379218.2	+	7	1289	c.978C>T	c.(976-978)tcC>tcT	p.S326S	SLC26A10_ENST00000320442.4_Silent_p.S326S			Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	326						integral to membrane	antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					TCATCTCCTCCCTCTTCTCTT	0.537000													56	171					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183710456	183710456	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr4:183710456G>A	ENST00000511685.1	+	25	5638	c.5515G>A	c.(5515-5517)Gag>Aag	p.E1839K	TENM3_ENST00000406950.2_Missense_Mutation_p.E1839K					teneurin transmembrane protein 3																		CACCACTAGCGAGAAAGTAGA	0.502000													17	14					0	0	1	0	0
ACSM1	116285	broad.mit.edu	37	16	20673166	20673166	+	Translation_Start_Site	SNP	A	A	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr16:20673166A>T	ENST00000219151.4	-	0	1009				ACSM1_ENST00000307493.4_Missense_Mutation_p.F314L|ACSM1_ENST00000520010.1_Missense_Mutation_p.F314L			Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1						benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						ATACCCCCCAAAAGTGGTTAA	0.363000													12	39					0	0	1	0	0
CTAG2	30848	broad.mit.edu	37	X	153880489	153880489	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chrX:153880489G>A	ENST00000369585.3	-	3	509	c.457C>T	c.(457-459)Ctc>Ttc	p.L153F	CTAG2_ENST00000247306.4_3'UTR	NM_172377.3	NP_758965.1	O75638	CTAG2_HUMAN	cancer/testis antigen 2	0						centrosome				central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGCTGCTGGAGACAGGAGCTG	0.582000													24	5					0	0	1	0	0
ZNF618	114991	broad.mit.edu	37	9	116812057	116812057	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr9:116812057C>T	ENST00000288466.7	+	14	2295	c.2196C>T	c.(2194-2196)atC>atT	p.I732I	ZNF618_ENST00000470105.1_3'UTR|ZNF618_ENST00000374126.5_Silent_p.I825I	NM_133374.2	NP_588615.2	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	825					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						ACGAGGAGATCATCGGCAAGG	0.637000													65	6					0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126138587	126138587	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr12:126138587G>A	ENST00000299308.3	+	9	2576	c.2568G>A	c.(2566-2568)ggG>ggA	p.G856G	TMEM132B_ENST00000535886.1_Silent_p.G368G	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	856						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CCATGGAAGGGAAGAATAAGT	0.517000													18	12					0	0	1	0	0
CHST5	23563	broad.mit.edu	37	16	75563857	75563857	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr16:75563857A>T	ENST00000336257.3	-	3	1820	c.426T>A	c.(424-426)ttT>ttA	p.F142L	RP11-77K12.7_ENST00000460606.1_3'UTR|CHST5_ENST00000541075.1_Missense_Mutation_p.F148L	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	142					N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						CCCAGTTGAAAAAGGCGGACA	0.607000													65	54					0	0	1	0	0
ASXL1	171023	broad.mit.edu	37	20	31023733	31023733	+	Missense_Mutation	SNP	G	G	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr20:31023733G>T	ENST00000375687.4	+	13	3642	c.3218G>T	c.(3217-3219)cGc>cTc	p.R1073L	ASXL1_ENST00000306058.5_Missense_Mutation_p.R1068L	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	1073					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						TGTGCGGTCCGCCAAAAGATC	0.572000			"""F, N, Mis"""		"""MDS, CMML"""								104	92					4.05343e-56	4.12768e-56	1	1	0
ZBTB34	403341	broad.mit.edu	37	9	129642549	129642549	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr9:129642549C>T	ENST00000319119.4	+	2	956	c.871C>T	c.(871-873)Caa>Taa	p.Q291*	ZBTB34_ENST00000373452.2_Nonsense_Mutation_p.Q287*	NM_001099270.1	NP_001092740.1	Q8NCN2	ZBT34_HUMAN	zinc finger and BTB domain containing 34	287					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						CTCCTATTCCCAAGCAGCCTC	0.527000													29	1					0	0	1	0	0
COL13A1	1305	broad.mit.edu	37	10	71690233	71690233	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr10:71690233G>A	ENST00000356340.3	+	28	2111	c.1575G>A	c.(1573-1575)gtG>gtA	p.V525V	COL13A1_ENST00000520133.1_Silent_p.V474V|COL13A1_ENST00000354547.3_Silent_p.V503V|COL13A1_ENST00000398968.3_Silent_p.V506V|COL13A1_ENST00000398974.3_Silent_p.V513V|COL13A1_ENST00000522165.1_Silent_p.V506V|COL13A1_ENST00000398973.3_Silent_p.V525V|COL13A1_ENST00000398964.3_Silent_p.V496V|COL13A1_ENST00000398972.3_Silent_p.V525V|COL13A1_ENST00000520267.1_Silent_p.V468V|COL13A1_ENST00000517713.1_Silent_p.V503V|COL13A1_ENST00000398969.3_Silent_p.V468V|COL13A1_ENST00000398966.3_Silent_p.V503V|COL13A1_ENST00000398971.3_Silent_p.V525V|COL13A1_ENST00000357811.3_Silent_p.V503V|COL13A1_ENST00000398978.3_Silent_p.V525V			Q5TAT6	CODA1_HUMAN	collagen, type XIII, alpha 1	525	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	CTCCAGGAGTGAAGGGAGAAA	0.602000													11	3					0	0	1	0	0
ZZEF1	23140	broad.mit.edu	37	17	3975931	3975931	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr17:3975931G>A	ENST00000381638.2	-	25	3929	c.3805C>T	c.(3805-3807)Ccc>Tcc	p.P1269S		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1269							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GGGTGAGTGGGCCAGCTTGCT	0.428000													33	2					0	0	1	0	0
XKR9	389668	broad.mit.edu	37	8	71646181	71646181	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr8:71646181C>T	ENST00000408926.3	+	5	1178	c.644C>T	c.(643-645)tCg>tTg	p.S215L	XKR9_ENST00000520273.1_Intron|XKR9_ENST00000520030.1_Missense_Mutation_p.S215L	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9	215						integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			ACATTATTATCGTGGATGCTG	0.299000													10	47					0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28826894	28826894	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:28826894G>A	ENST00000422425.2	+	39	2847	c.2803G>A	c.(2803-2805)Gcc>Acc	p.A935T	PLB1_ENST00000327757.5_Missense_Mutation_p.A946T|PLB1_ENST00000541605.1_Intron	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	946	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CAGGCTGGAGGCCTTCAGCCG	0.607000													21	27					0	0	1	0	0
CXorf22	170063	broad.mit.edu	37	X	35974255	35974255	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chrX:35974255A>T	ENST00000297866.5	+	8	1418	c.1352A>T	c.(1351-1353)aAa>aTa	p.K451I		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	451										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						CACTTTAAAAAAACTGCAAAT	0.348000													29	3					0	0	1	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27999379	27999379	+	Missense_Mutation	SNP	C	C	G			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chrX:27999379C>G	ENST00000441525.1	-	1	187	c.73G>C	c.(73-75)Gag>Cag	p.E25Q		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	25										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						CCAGACTGCTCCTCTGGGCTG	0.567000													18	3					0	0	1	0	0
CLEC17A	388512	broad.mit.edu	37	19	14707812	14707812	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr19:14707812G>A	ENST00000547437.1	+	9	647	c.570G>A	c.(568-570)gtG>gtA	p.V190V	CLEC17A_ENST00000417570.1_Silent_p.V190V|CLEC17A_ENST00000397439.2_Silent_p.V173V	NM_207390.3	NP_997273.3	Q6ZS10	CL17A_HUMAN	C-type lectin domain family 17, member A	190						cell surface|integral to membrane	fucose binding|mannose binding|metal ion binding|receptor activity										GTCTCACTGTGACCCTGATTA	0.567000													7	6					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20970595	20970595	+	Silent	SNP	A	A	G			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr16:20970595A>G	ENST00000261383.3	-	54	10731	c.10732T>C	c.(10732-10734)Tta>Cta	p.L3578L	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3578	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CAGTTCTGTAAGACCACCCAG	0.537000													63	79					0	0	1	0	0
NPL	80896	broad.mit.edu	37	1	182783974	182783974	+	Missense_Mutation	SNP	C	C	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:182783974C>A	ENST00000367554.3	+	5	606	c.288C>A	c.(286-288)ttC>ttA	p.F96L	NPL_ENST00000463899.1_3'UTR|NPL_ENST00000367552.2_Missense_Mutation_p.F115L|NPL_ENST00000367555.1_Missense_Mutation_p.F115L|NPL_ENST00000367553.1_Missense_Mutation_p.F115L|NPL_ENST00000258317.2_Missense_Mutation_p.F115L	NM_001200050.1	NP_001186979.1	Q9BXD5	NPL_HUMAN	N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase)	115					carbohydrate metabolic process	cytoplasm	N-acetylneuraminate lyase activity			breast(1)|central_nervous_system(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(1)|stomach(1)	15						CACCGTTCTTCCTCAAGCCAT	0.423000													54	3					6.3237e-29	6.40503e-29	1	1	0
CPXM1	56265	broad.mit.edu	37	20	2776303	2776303	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr20:2776303C>T	ENST00000380605.2	-	11	1726	c.1662G>A	c.(1660-1662)caG>caA	p.Q554Q		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	554					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CGGAGAAGTCCTGGCTGTGGC	0.627000													39	39					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25490534	25490534	+	RNA	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr15:25490534C>T	ENST00000453082.2	+	0	2685					NR_003343.1																						AGCTCAGACCCTCCGTGGCAC	0.612000													31	28					0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1255221	1255221	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr16:1255221C>T	ENST00000348261.5	+	11	2807	c.2559C>T	c.(2557-2559)atC>atT	p.I853I	CACNA1H_ENST00000565831.1_Silent_p.I853I|CACNA1H_ENST00000358590.4_Silent_p.I853I	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	853					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	TGGGCTACATCCGGAACCCGT	0.597000													62	58					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152276950	152276950	+	Missense_Mutation	SNP	C	C	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:152276950C>A	ENST00000368799.1	-	3	10447	c.10412G>T	c.(10411-10413)gGa>gTa	p.G3471V	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3471	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATCAGACCTTCCCTGGGATGT	0.572000									Ichthyosis				585	34					0	0	1	1	0
GPR65	8477	broad.mit.edu	37	14	88477763	88477763	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr14:88477763G>A	ENST00000267549.3	+	2	1130	c.572G>A	c.(571-573)gGc>gAc	p.G191D	RP11-300J18.2_ENST00000554433.1_RNA	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	191					actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						ACGTGTACAGGCTATGCAATA	0.418000													27	21					0	0	1	0	0
TSSK1B	83942	broad.mit.edu	37	5	112769748	112769748	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr5:112769748G>A	ENST00000390666.3	-	1	980	c.789C>T	c.(787-789)atC>atT	p.I263I	MCC_ENST00000408903.3_Intron|CTD-2201G3.1_ENST00000383058.4_RNA|CTD-2201G3.1_ENST00000416046.2_RNA	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1B	263	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			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)		GGATCTCGTCGATGTGGAGCC	0.622000													14	79					0	0	1	0	0
CLEC1A	51267	broad.mit.edu	37	12	10224058	10224058	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr12:10224058G>A	ENST00000315330.4	-	6	779	c.717C>T	c.(715-717)atC>atT	p.I239I	CLEC1A_ENST00000457018.2_Silent_p.I206I|CLEC1A_ENST00000420265.2_Silent_p.I147I	NM_016511.2	NP_057595.2	Q8NC01	CLC1A_HUMAN	C-type lectin domain family 1, member A	239	C-type lectin.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						TCCCATTAAGGATGGCCACAC	0.433000													67	43					0	0	1	0	0
CLSTN3	9746	broad.mit.edu	37	12	7310180	7310180	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr12:7310180C>T	ENST00000537408.1	+	16	3197	c.2659C>T	c.(2659-2661)Cgc>Tgc	p.R887C	CLSTN3_ENST00000331148.5_3'UTR|CLSTN3_ENST00000266546.6_Missense_Mutation_p.R875C			Q9BQT9	CSTN3_HUMAN	calsyntenin 3	875					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						TTCCCTTCACCGCCGCGTCTC	0.637000													4	12					0	0	1	0	0
VWCE	220001	broad.mit.edu	37	11	61026779	61026779	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:61026779G>A	ENST00000335613.5	-	20	2622	c.2236C>T	c.(2236-2238)Ctg>Ttg	p.L746L	VWCE_ENST00000535710.1_Silent_p.L211L	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	746						extracellular region	calcium ion binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						AGAGGAGACAGGGAATCTAGA	0.562000													9	42					0	0	1	0	0
GSDMC	56169	broad.mit.edu	37	8	130777906	130777906	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr8:130777906C>T	ENST00000276708.4	-	4	1419	c.538G>A	c.(538-540)Ggg>Agg	p.G180R		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	180						mitochondrion				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						GCAATTTTCCCTAAAATATTC	0.448000													56	184					0	0	1	0	0
ABCC11	85320	broad.mit.edu	37	16	48234262	48234262	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr16:48234262C>T	ENST00000394747.1	-	14	2356	c.2007G>A	c.(2005-2007)ggG>ggA	p.G669G	ABCC11_ENST00000537808.1_Silent_p.G669G|ABCC11_ENST00000353782.5_Silent_p.G669G|ABCC11_ENST00000394748.1_Silent_p.G669G|ABCC11_ENST00000356608.2_Silent_p.G669G	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	669	ABC transporter 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				AAATGTGCTTCCCCACGTGGG	0.607000													28	42					0	0	1	0	0
EFCAB13	124989	broad.mit.edu	37	17	45452041	45452041	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr17:45452041A>G	ENST00000331493.2	+	12	1492	c.1081A>G	c.(1081-1083)Aaa>Gaa	p.K361E	EFCAB13_ENST00000517484.1_Missense_Mutation_p.K265E	NM_152347.4	NP_689560.3			EF-hand calcium binding domain 13																		TAAAAGACCAAAAAATACTTG	0.323000													24	6					0	0	1	0	0
CRYBB1	1414	broad.mit.edu	37	22	27003982	27003982	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr22:27003982C>T	ENST00000215939.2	-	4	433	c.303G>A	c.(301-303)tgG>tgA	p.W101*		NM_001887.3	NP_001878.1	P53674	CRBB1_HUMAN	crystallin, beta B1	101	Beta/gamma crystallin 'Greek key' 2.				visual perception		structural constituent of eye lens			breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						CAAAGGCGACCCAGCTGGATA	0.572000													27	31					0	0	1	0	0
TBC1D9	23158	broad.mit.edu	37	4	141600878	141600878	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr4:141600878G>A	ENST00000442267.2	-	4	554	c.480C>T	c.(478-480)ctC>ctT	p.L160L		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	160	GRAM 1.					intracellular	calcium ion binding|Rab GTPase activator activity	p.L160L(2)		endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				AATAGTTGACGAGTTTCTCTT	0.418000													25	13					0	0	1	0	0
AFAP1L1	134265	broad.mit.edu	37	5	148699221	148699221	+	Missense_Mutation	SNP	C	C	G			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr5:148699221C>G	ENST00000296721.4	+	13	1654	c.1556C>G	c.(1555-1557)gCg>gGg	p.A519G	AFAP1L1_ENST00000515000.1_Missense_Mutation_p.A519G	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	519							protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTCCGGAGGCGCTGCACTAT	0.597000													89	16					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179554089	179554089	+	Missense_Mutation	SNP	G	G	C			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:179554089G>C	ENST00000589042.1	-	124	32163	c.31939C>G	c.(31939-31941)Cca>Gca	p.P10647A	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P10330A|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P9403A|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10330	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			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)			TTCTTCTTTGGTATTTCTGGC	0.368000													9	24					0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17017784	17017784	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr19:17017784G>A	ENST00000443236.1	-	30	4177	c.4146C>T	c.(4144-4146)ctC>ctT	p.L1382L		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1335						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CCAGGCTACGGAGCTTGCGCA	0.642000													7	4					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145296440	145296440	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:145296440G>A	ENST00000342960.5	+	3	397	c.362G>A	c.(361-363)cGc>cAc	p.R121H	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	121								p.R121H(1)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GATGCCTCCCGCTCATTGTAT	0.562000													8	494					0	0	1	0	0
GLTSCR1L	23506	broad.mit.edu	37	6	42796515	42796515	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr6:42796515C>T	ENST00000314073.5	+	6	620	c.444C>T	c.(442-444)tcC>tcT	p.S148S	GLTSCR1L_ENST00000394168.1_Silent_p.S148S					GLTSCR1-like																		CATCAGCATCCTTTACTCAGG	0.463000													68	84					0	0	1	0	0
DHRS2	10202	broad.mit.edu	37	14	24109098	24109098	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr14:24109098G>A	ENST00000250383.6	+	4	890	c.414G>A	c.(412-414)tgG>tgA	p.W138*	DHRS2_ENST00000344777.7_Nonsense_Mutation_p.W138*|DHRS2_ENST00000553896.1_3'UTR	NM_005794.3	NP_005785.1	Q13268	DHRS2_HUMAN	dehydrogenase/reductase (SDR family) member 2	116					C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00659)		AGCAGATCTGGGACAAGGTGA	0.657000													7	23					0	0	1	0	0
PLA2G2D	26279	broad.mit.edu	37	1	20442949	20442949	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:20442949C>T	ENST00000375105.3	-	2	120	c.62G>A	c.(61-63)gGg>gAg	p.G21E		NM_012400.2	NP_036532.1	Q9UNK4	PA2GD_HUMAN	phospholipase A2, group IID	21					inflammatory response|lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity			endometrium(1)|lung(2)	3		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000798)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GTTCAGGATCCCGCCCTGGAT	0.577000										Multiple Myeloma(11;0.12)			49	3					0	0	1	0	0
PER1	5187	broad.mit.edu	37	17	8049421	8049421	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr17:8049421G>A	ENST00000317276.4	-	17	2310	c.2073C>T	c.(2071-2073)gcC>gcT	p.A691A	PER1_ENST00000581082.1_Silent_p.A671A|PER1_ENST00000578089.1_5'UTR|PER1_ENST00000354903.5_Silent_p.A675A	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	691	CSNK1E binding domain (By similarity).				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TCCGTGGGGTGGCCCCCTCCC	0.642000			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes					27	2					0	0	1	0	0
MAGEE2	139599	broad.mit.edu	37	X	75004259	75004259	+	Missense_Mutation	SNP	C	C	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chrX:75004259C>A	ENST00000373359.2	-	1	820	c.628G>T	c.(628-630)Gat>Tat	p.D210Y		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	210	MAGE 1.									autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TGAGGCTTATCCCACATATCA	0.507000													28	6					3.69857e-22	3.73812e-22	1	1	0
ACAN	176	broad.mit.edu	37	15	89401043	89401043	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr15:89401043C>T	ENST00000439576.2	+	12	5601	c.5227C>T	c.(5227-5229)Cct>Tct	p.P1743S	ACAN_ENST00000352105.7_Missense_Mutation_p.P1743S|ACAN_ENST00000561243.1_Missense_Mutation_p.P1743S|ACAN_ENST00000559004.1_Missense_Mutation_p.P1743S	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	1743					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			ATCAGGGTTTCCTGACACTAG	0.522000													90	64					0	0	1	0	0
TICRR	90381	broad.mit.edu	37	15	90146076	90146076	+	Missense_Mutation	SNP	C	C	G			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr15:90146076C>G	ENST00000268138.7	+	13	2722	c.2617C>G	c.(2617-2619)Ctt>Gtt	p.L873V	TICRR_ENST00000560985.1_Missense_Mutation_p.L872V					TOPBP1-interacting checkpoint and replication regulator																		TTCACAGAATCTTCGACAAAT	0.303000													10	9					0	0	1	0	0
OSBPL10	114884	broad.mit.edu	37	3	31710154	31710154	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:31710154C>T	ENST00000396556.2	-	10	2198	c.2076G>A	c.(2074-2076)aaG>aaA	p.K692K	OSBPL10_ENST00000438237.2_Silent_p.K628K	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	692					lipid transport		lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		TGGGTCCCTGCTTCTCAAGAG	0.498000													26	23					0	0	1	0	0
NONO	4841	broad.mit.edu	37	X	70514279	70514279	+	Missense_Mutation	SNP	G	G	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chrX:70514279G>T	ENST00000535149.1	+	3	927	c.284G>T	c.(283-285)cGa>cTa	p.R95L	NONO_ENST00000373856.3_Missense_Mutation_p.R184L|NONO_ENST00000373841.1_Missense_Mutation_p.R184L|NONO_ENST00000490044.1_3'UTR|NONO_ENST00000276079.8_Missense_Mutation_p.R184L	NM_001145410.1	NP_001138882.1	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	184	DBHS.|RRM 1.				DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|identical protein binding|nucleotide binding|RNA binding		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					GTGGATGATCGAGGAAGGCCC	0.517000			T	TFE3	papillary renal cancer								26	4					5.61819e-17	5.65409e-17	1	1	0
UNC5B	219699	broad.mit.edu	37	10	73044523	73044523	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr10:73044523G>A	ENST00000335350.6	+	3	767	c.351G>A	c.(349-351)gtG>gtA	p.V117V	UNC5B_ENST00000373192.4_Silent_p.V117V	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	117	Ig-like.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						GGCAGCAGGTGGAGGAGCTCT	0.662000													34	10					0	0	1	0	0
PCNXL3	399909	broad.mit.edu	37	11	65396306	65396306	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:65396306C>T	ENST00000355703.3	+	24	4367	c.3828C>T	c.(3826-3828)ttC>ttT	p.F1276F		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1276						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CCATGCTGTTCGTCCAGGCCC	0.667000													14	10					0	0	1	0	0
ACE	1636	broad.mit.edu	37	17	61571326	61571326	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr17:61571326C>T	ENST00000577647.1	+	10	1503	c.1458C>T	c.(1456-1458)atC>atT	p.I486I	ACE_ENST00000421982.2_Silent_p.I306I|ACE_ENST00000490216.2_Silent_p.I486I|ACE_ENST00000428043.1_Silent_p.I1060I|ACE_ENST00000413513.3_Silent_p.I486I|ACE_ENST00000290863.6_Silent_p.I486I|ACE_ENST00000290866.4_Silent_p.I1060I			P12821	ACE_HUMAN	angiotensin I converting enzyme	1060	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	TTGACAAGATCGCCTTTATCC	0.547000													35	7					0	0	1	0	0
KRT76	51350	broad.mit.edu	37	12	53170596	53170596	+	Silent	SNP	T	T	C			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr12:53170596T>C	ENST00000332411.2	-	1	533	c.480A>G	c.(478-480)gtA>gtG	p.V160V		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	160	Head.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GACTCTGGTTTACAATCACTT	0.562000													19	17					0	0	1	0	0
ATP2A2	488	broad.mit.edu	37	12	110782767	110782767	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr12:110782767C>T	ENST00000395494.2	+	16	3080	c.2517C>T	c.(2515-2517)ttC>ttT	p.F839F	ATP2A2_ENST00000308664.6_Silent_p.F866F|ATP2A2_ENST00000539276.2_Silent_p.F866F			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	866					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						GAGTGTCCTTCTACCAGCTGG	0.498000													11	34					0	0	1	0	0
TRPC7	57113	broad.mit.edu	37	5	135692517	135692517	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr5:135692517C>T	ENST00000513104.1	-	2	841	c.559G>A	c.(559-561)Ggc>Agc	p.G187S	TRPC7_ENST00000355180.3_Missense_Mutation_p.G187S|TRPC7_ENST00000426057.2_Missense_Mutation_p.G187S	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	187					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ATGCGGGCGCCCTTGAGCAGC	0.617000													29	211					0	0	1	0	0
RPH3A	22895	broad.mit.edu	37	12	113306309	113306309	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr12:113306309G>A	ENST00000389385.4	+	8	1016	c.519G>A	c.(517-519)aaG>aaA	p.K173K	RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000551052.1_Silent_p.K169K|RPH3A_ENST00000543106.2_Silent_p.K173K|RPH3A_ENST00000420983.2_Silent_p.K173K|RPH3A_ENST00000447659.2_Silent_p.K124K|RPH3A_ENST00000415485.3_Silent_p.K173K|RPH3A_ENST00000548866.1_Silent_p.K124K	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog (mouse)	173	Pro-rich.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		TGCCTATAAAGAAGACCAAGC	0.592000													12	18					0	0	1	0	0
FST	10468	broad.mit.edu	37	5	52779351	52779351	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr5:52779351G>A	ENST00000396947.3	+	3	461	c.295G>A	c.(295-297)Gac>Aac	p.D99N	FST_ENST00000256759.3_Missense_Mutation_p.D99N	NM_006350.3	NP_006341.1	P19883	FST_HUMAN	follistatin	99	Follistatin-like 1.|TB.				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development	extracellular region	activin binding|protein binding|signal transducer activity			breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1)	15		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)				TGAGAACGTGGACTGTGGACC	0.547000													20	44					0	0	1	0	0
HGF	3082	broad.mit.edu	37	7	81381564	81381564	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr7:81381564C>T	ENST00000222390.5	-	5	723	c.497G>A	c.(496-498)aGc>aAc	p.S166N	HGF_ENST00000423064.2_Missense_Mutation_p.S166N|HGF_ENST00000444829.2_Missense_Mutation_p.S166N|HGF_ENST00000453411.1_Splice_Site|HGF_ENST00000457544.2_Splice_Site	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	166	Kringle 1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	p.S166I(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						ACCCCGATAGCTCGAAGGCAA	0.393000													16	46					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183714431	183714431	+	Silent	SNP	G	G	A	rs140050384	by1000genomes	TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr4:183714431G>A	ENST00000511685.1	+	26	6729	c.6606G>A	c.(6604-6606)acG>acA	p.T2202T	TENM3_ENST00000406950.2_Silent_p.T2202T					teneurin transmembrane protein 3																		AAAGGGGCACGGAAATCTTTG	0.502000													46	38					0	0	1	0	0
C15orf41	84529	broad.mit.edu	37	15	36950061	36950061	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr15:36950061C>T	ENST00000566621.1	+	5	551	c.301C>T	c.(301-303)Cgg>Tgg	p.R101W	C15orf41_ENST00000338183.4_Missense_Mutation_p.R3W|RP11-16L14.2_ENST00000565366.1_RNA|C15orf41_ENST00000562877.1_Missense_Mutation_p.R3W|C15orf41_ENST00000437989.2_Missense_Mutation_p.R101W|C15orf41_ENST00000569302.1_Missense_Mutation_p.R101W|C15orf41_ENST00000567389.1_Missense_Mutation_p.R3W	NM_001130010.1	NP_001123482.1	Q9Y2V0	CO041_HUMAN	chromosome 15 open reading frame 41	101							protein binding			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		all_epithelial(112;3.06e-10)|Lung NSC(122;6.48e-08)|all_lung(180;8.31e-07)|Melanoma(134;0.222)		all cancers(64;1.76e-19)|GBM - Glioblastoma multiforme(113;5.03e-07)|BRCA - Breast invasive adenocarcinoma(123;0.11)		ATTAATGGCTCGGCTTATACT	0.403000													13	12					0	0	1	0	0
PBRM1	55193	broad.mit.edu	37	3	52677322	52677322	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:52677322G>A	ENST00000296302.7	-	9	938	c.937C>T	c.(937-939)Cct>Tct	p.P313S	PBRM1_ENST00000410007.1_Missense_Mutation_p.P313S|PBRM1_ENST00000409767.1_Missense_Mutation_p.P313S|PBRM1_ENST00000409114.3_Missense_Mutation_p.P313S|PBRM1_ENST00000356770.4_Intron|PBRM1_ENST00000394830.3_Missense_Mutation_p.P313S|PBRM1_ENST00000337303.4_Missense_Mutation_p.P313S|PBRM1_ENST00000409057.1_Missense_Mutation_p.P313S			Q86U86	PB1_HUMAN	polybromo 1	313					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CTGTGTGAAGGACCTGTCAGT	0.443000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								51	39					0	0	1	0	0
LXN	56925	broad.mit.edu	37	3	158387398	158387398	+	Splice_Site	SNP	T	T	C			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:158387398T>C	ENST00000264265.3	-	3	408	c.192_splice	c.e3-1	p.Q65_splice	GFM1_ENST00000478576.1_Intron|GFM1_ENST00000264263.5_Intron|GFM1_ENST00000486715.1_Intron	NM_020169.3	NP_064554.3	Q9BS40	LXN_HUMAN	latexin	65						cytoplasm	metalloendopeptidase inhibitor activity|protein binding			breast(2)|endometrium(1)|kidney(2)	5			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			CACCTTAACTTGCTGTTTGAA	0.353000													23	8					0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137302	40137302	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:40137302C>T	ENST00000278198.2	-	2	2504	c.541G>A	c.(541-543)Gaa>Aaa	p.E181K	LRRC4C_ENST00000527150.1_Missense_Mutation_p.E181K|LRRC4C_ENST00000528697.1_Missense_Mutation_p.E181K|LRRC4C_ENST00000530763.1_Missense_Mutation_p.E181K			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	181					regulation of axonogenesis	integral to membrane	protein binding			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)				CTTTTCAATTCCCCTAAGTCT	0.438000													11	36					0	0	1	0	0
TBX19	9095	broad.mit.edu	37	1	168282086	168282086	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:168282086A>G	ENST00000367821.3	+	8	1244	c.1193A>G	c.(1192-1194)cAa>cGa	p.Q398R	TBX19_ENST00000465440.1_3'UTR	NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN	T-box 19	398					anatomical structure morphogenesis	nucleus	DNA binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					CTCTCCACCCAAGCACCCACT	0.657000													67	8					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100681061	100681061	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr7:100681061C>T	ENST00000306151.4	+	3	6428	c.6364C>T	c.(6364-6366)Ctt>Ttt	p.L2122F		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2122	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GGCTAGCACCCTTTCAACAAC	0.493000													160	164					0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53563540	53563540	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chrX:53563540G>A	ENST00000342160.3	-	78	12683	c.12226C>T	c.(12226-12228)Cct>Tct	p.P4076S	HUWE1_ENST00000262854.6_Missense_Mutation_p.P4076S			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4076	HECT.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GCATACATAGGGTTAAACATC	0.478000													28	4					0	0	1	0	0
GOLGA8IP	283796	broad.mit.edu	37	15	23261864	23261864	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr15:23261864G>A	ENST00000450802.3	+	12	1074	c.976G>A	c.(976-978)Gtc>Atc	p.V326I																								CCAGGCCCAGGTCAAAAACAA	0.587000													26	52					0	0	1	0	0
HRG	3273	broad.mit.edu	37	3	186390650	186390650	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:186390650C>T	ENST00000232003.4	+	5	713	c.633C>T	c.(631-633)caC>caT	p.H211H		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	211	Cystatin 2.				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		TCCCCAGACACCCCAATGTGA	0.463000													4	34					0	0	1	0	0
ASIC4	55515	broad.mit.edu	37	2	220379880	220379880	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:220379880A>T	ENST00000358078.4	+	1	829	c.815A>T	c.(814-816)aAa>aTa	p.K272I	ASIC4_ENST00000347842.3_Missense_Mutation_p.K272I|AC053503.11_ENST00000429882.1_RNA			Q96FT7	ACCN4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	272						integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity										CTGCCCCCCAAAGACCGGGAT	0.622000													15	21					0	0	1	0	0
HNRNPCL1	343069	broad.mit.edu	37	1	12907966	12907966	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:12907966C>T	ENST00000317869.6	-	2	402	c.177G>A	c.(175-177)aaG>aaA	p.K59K		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1											NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						CATTTTTCTCCTTATCATATT	0.473000													66	129					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11039138	11039138	+	RNA	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr21:11039138G>A	ENST00000470054.1	-	0	1065									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)		AGGACATAATGAAGTGCTTTC	0.403000													8	163					0	0	1	0	0
PRDM16	63976	broad.mit.edu	37	1	3342247	3342247	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:3342247C>T	ENST00000378398.3	+	14	3124	c.3042C>T	c.(3040-3042)aaC>aaT	p.N1014N	PRDM16_ENST00000378391.2_Silent_p.N1014N|PRDM16_ENST00000442529.2_Silent_p.N1013N|PRDM16_ENST00000441472.2_Silent_p.N1013N|PRDM16_ENST00000514189.1_Silent_p.N1014N|PRDM16_ENST00000270722.5_Silent_p.N1014N|PRDM16_ENST00000511072.1_Silent_p.N1015N|PRDM16_ENST00000512462.1_3'UTR			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	1014	Interaction with CTBP1 and CTBP2 (By similarity).|Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		ACCTGTGCAACCGCTGCTTCG	0.627000			T	EVI1	"""MDS, AML"""								83	13					0	0	1	0	0
ARMC9	80210	broad.mit.edu	37	2	232209755	232209755	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:232209755C>T	ENST00000349938.4	+	21	2141	c.1947C>T	c.(1945-1947)ccC>ccT	p.P649P	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.3	NP_001258395.1|NP_079415.3	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	649							binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		GGGATGAGCCCCTGCAAAGGC	0.552000													32	30					0	0	1	0	0
VGLL3	389136	broad.mit.edu	37	3	87018239	87018239	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:87018239G>A	ENST00000398399.2	-	3	801	c.438C>T	c.(436-438)ttC>ttT	p.F146F	VGLL3_ENST00000383698.3_Silent_p.F146F	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN	vestigial like 3 (Drosophila)	146					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		AGGAAGTTGGGAAACTATTCC	0.478000													19	74					0	0	1	0	0
MYT1	4661	broad.mit.edu	37	20	62839838	62839838	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr20:62839838A>G	ENST00000536311.1	+	7	1653	c.1289A>G	c.(1288-1290)aAa>aGa	p.K430R	MYT1_ENST00000328439.1_Missense_Mutation_p.K430R|MYT1_ENST00000360149.4_Intron			Q01538	MYT1_HUMAN	myelin transcription factor 1	430					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					TACTACAGTAAAGGTAGGGCT	0.652000													12	27					0	0	1	0	0
KCTD3	51133	broad.mit.edu	37	1	215768791	215768791	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:215768791A>C	ENST00000259154.4	+	10	1205	c.911A>C	c.(910-912)aAt>aCt	p.N304T		NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	304						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		GGAGTGTGGAATGCTGTCACT	0.398000													90	8					0	0	1	0	0
C20orf166-AS1	253868	broad.mit.edu	37	20	61143344	61143344	+	RNA	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr20:61143344C>T	ENST00000475015.1	-	0	994				C20orf166-AS1_ENST00000412495.1_RNA																							TGGCAGGGCCCTCCCCTGGAC	0.687000													21	29					0	0	1	0	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159818734	159818734	+	RNA	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:159818734G>A	ENST00000497452.1	-	0	517																											AGGAGGGAACGAAGTCACCGA	0.507000													32	59					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141773434	141773434	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:141773434C>T	ENST00000389484.3	-	13	2992	c.2021G>A	c.(2020-2022)gGa>gAa	p.G674E		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	674					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			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)		CTCAATCCTTCCCACGCTGTC	0.413000										TSP Lung(27;0.18)			37	25					0	0	1	0	0
NLRP14	338323	broad.mit.edu	37	11	7063791	7063791	+	Silent	SNP	C	C	T	rs138061199	by1000genomes	TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:7063791C>T	ENST00000299481.4	+	4	880	c.534C>T	c.(532-534)atC>atT	p.I178I		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	178	NACHT.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			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)		AGCCACAGATCGTGGTGCTTC	0.473000													63	33					0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73961452	73961452	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chrX:73961452C>T	ENST00000373468.1	-	3	3591	c.2940G>A	c.(2938-2940)caG>caA	p.Q980Q	KIAA2022_ENST00000055682.5_Silent_p.Q980Q			Q5QGS0	K2022_HUMAN	KIAA2022	980					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TGACTGGCCCCTGCTGGAAAG	0.443000													22	6					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170042066	170042066	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:170042066G>A	ENST00000263816.3	-	50	10077	c.9792C>T	c.(9790-9792)atC>atT	p.I3264I		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3264					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TGTGGTTTATGATTGTCTCCT	0.358000													30	20					0	0	1	0	0
PRSS53	339105	broad.mit.edu	37	16	31098880	31098880	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr16:31098880T>G	ENST00000280606.6	-	3	373	c.220A>C	c.(220-222)Act>Cct	p.T74P	RP11-196G11.1_ENST00000529564.1_Missense_Mutation_p.T149P	NM_001039503.2	NP_001034592.1	Q2L4Q9	PRS53_HUMAN	protease, serine, 53	74	Peptidase S1 1.				proteolysis	extracellular region	serine-type endopeptidase activity			large_intestine(1)|lung(3)	4						TGGGCAGCAGTGAGGACCCAG	0.622000													7	9					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141299408	141299408	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:141299408G>A	ENST00000389484.3	-	44	8298	c.7327C>T	c.(7327-7329)Cgt>Tgt	p.R2443C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2443					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			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)		ATATCGGAACGAAGAATTTTT	0.388000										TSP Lung(27;0.18)			35	34					0	0	1	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101834251	101834251	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr5:101834251C>T	ENST00000506729.1	-	1	469	c.298G>A	c.(298-300)Gag>Aag	p.E100K	SLCO6A1_ENST00000513675.1_Missense_Mutation_p.E100K|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.E100K|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.E100K|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.E100K|SLCO6A1_ENST00000514551.1_5'UTR			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	100	Cys-rich.					integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TTGCAACACTCACAGCAGGTG	0.507000													22	183					0	0	1	0	0
RBPJ	3516	broad.mit.edu	37	4	26430439	26430439	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr4:26430439G>A	ENST00000342320.4	+	8	1018	c.842G>A	c.(841-843)aGa>aAa	p.R281K	RBPJ_ENST00000504907.1_Missense_Mutation_p.R281K|RBPJ_ENST00000342295.1_Missense_Mutation_p.R295K|RBPJ_ENST00000345843.3_Missense_Mutation_p.R280K|RBPJ_ENST00000361572.6_Missense_Mutation_p.R295K|RBPJ_ENST00000348160.4_Missense_Mutation_p.R282K|RBPJ_ENST00000355476.3_Missense_Mutation_p.R281K|RBPJ_ENST00000507561.1_Missense_Mutation_p.R260K			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	295					DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				GATACAGAAAGAATGTATTTG	0.333000													4	31					0	0	1	0	0
SLC12A1	6557	broad.mit.edu	37	15	48591433	48591433	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr15:48591433G>A	ENST00000396577.3	+	25	3272	c.3057G>A	c.(3055-3057)tgG>tgA	p.W1019*	SLC12A1_ENST00000380993.3_Nonsense_Mutation_p.W1019*|SLC12A1_ENST00000558405.1_Nonsense_Mutation_p.W1019*	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	1019					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	AAACTCCGTGGAAAATTACAG	0.363000													14	10					0	0	1	0	0
TLR1	7096	broad.mit.edu	37	4	38798180	38798180	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr4:38798180C>T	ENST00000308979.2	-	4	2546	c.2273G>A	c.(2272-2274)tGg>tAg	p.W758*	TLR1_ENST00000502213.2_Nonsense_Mutation_p.W758*	NM_003263.3	NP_003254.2	Q15399	TLR1_HUMAN	toll-like receptor 1	758	TIR.				cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						TTCCTTGGGCCATTCCAAATA	0.433000													30	37					0	0	1	0	0
CPA3	1359	broad.mit.edu	37	3	148601541	148601541	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:148601541C>T	ENST00000296046.3	+	9	972	c.920C>T	c.(919-921)tCc>tTc	p.S307F	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	307					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			CATTCCTACTCCCAGATGCTA	0.428000													12	63					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105411077	105411077	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr14:105411077G>A	ENST00000333244.5	-	7	10830	c.10711C>T	c.(10711-10713)Ctc>Ttc	p.L3571F	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3571						nucleus				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)			GGGCCCTTGAGGTCCACTTTG	0.617000													37	110					0	0	1	0	0
ABHD16A	7920	broad.mit.edu	37	6	31664743	31664743	+	Missense_Mutation	SNP	G	G	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr6:31664743G>T	ENST00000395952.3	-	5	573	c.411C>A	c.(409-411)aaC>aaA	p.N137K	ABHD16A_ENST00000538874.1_Missense_Mutation_p.T39N|ABHD16A_ENST00000440843.2_Missense_Mutation_p.N104K|XXbac-BPG32J3.20_ENST00000461287.1_3'UTR|ABHD16A_ENST00000375842.4_5'UTR	NM_021160.2	NP_066983.1	O95870	ABHGA_HUMAN	abhydrolase domain containing 16A	137						integral to membrane	hydrolase activity|protein binding			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						CTGAAGACTGGTTCCGATGTG	0.527000													38	45					1.07637e-12	1.08094e-12	1	1	0
STAB2	55576	broad.mit.edu	37	12	104015884	104015884	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr12:104015884C>T	ENST00000388887.2	+	5	686	c.482C>T	c.(481-483)tCa>tTa	p.S161L		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	161	EGF-like 2.				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			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						CCCAGCTGTTCATCAGGTATG	0.443000													6	25					0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91715573	91715573	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr7:91715573T>C	ENST00000359028.2	+	37	9293	c.9068T>C	c.(9067-9069)tTc>tCc	p.F3023S	AKAP9_ENST00000358100.2_Missense_Mutation_p.F2969S|AKAP9_ENST00000356239.3_Missense_Mutation_p.F3019S			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3023					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CATGAGAGCTTCTCAGACTGG	0.368000			T	BRAF	papillary thyroid								60	88					0	0	1	0	0
PKP3	11187	broad.mit.edu	37	11	404557	404557	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:404557C>T	ENST00000331563.2	+	13	2458	c.2382C>T	c.(2380-2382)ttC>ttT	p.F794F		NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN	plakophilin 3	794					cell adhesion	desmosome|nucleus	binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGGAGGACTTCCTGGGCCCAT	0.627000													52	21					0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9404510	9404510	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr20:9404510C>T	ENST00000378501.2	+	24	2414	c.2399C>T	c.(2398-2400)tCc>tTc	p.S800F	PLCB4_ENST00000278655.4_Missense_Mutation_p.S800F|PLCB4_ENST00000334005.3_Missense_Mutation_p.S800F|PLCB4_ENST00000378473.3_Missense_Mutation_p.S812F|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000414679.2_Missense_Mutation_p.S812F|PLCB4_ENST00000378493.1_Missense_Mutation_p.S800F	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	800					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						CGACACATTTCCCTTCGAAAT	0.418000													24	47					0	0	1	0	0
RP11-998D10.1	0	broad.mit.edu	37	14	21502011	21502011	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr14:21502011G>A	ENST00000531638.1	+	2	449	c.347G>A	c.(346-348)tGg>tAg	p.W116*	NDRG2_ENST00000403829.3_Intron|RNASE13_ENST00000382951.3_Missense_Mutation_p.P146L																							GATACCTATTGGATCAGCTTC	0.517000													82	58					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100350690	100350690	+	RNA	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr7:100350690G>A	ENST00000542585.1	+	0	3110				ZAN_ENST00000348028.3_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CATCCCCACAGAAAAACCCAC	0.572000													70	63					0	0	1	0	0
RPH3A	22895	broad.mit.edu	37	12	113306308	113306308	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr12:113306308A>C	ENST00000389385.4	+	8	1015	c.518A>C	c.(517-519)aAg>aCg	p.K173T	RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000551052.1_Missense_Mutation_p.K169T|RPH3A_ENST00000543106.2_Missense_Mutation_p.K173T|RPH3A_ENST00000420983.2_Missense_Mutation_p.K173T|RPH3A_ENST00000447659.2_Missense_Mutation_p.K124T|RPH3A_ENST00000415485.3_Missense_Mutation_p.K173T|RPH3A_ENST00000548866.1_Missense_Mutation_p.K124T	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog (mouse)	173	Pro-rich.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		ATGCCTATAAAGAAGACCAAG	0.597000													13	18					0	0	1	0	0
MARCO	8685	broad.mit.edu	37	2	119739078	119739078	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:119739078C>T	ENST00000541757.1	+	10	1006	c.626C>T	c.(625-627)cCa>cTa	p.P209L	MARCO_ENST00000327097.4_Missense_Mutation_p.P287L			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	287	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						AGGCCAGGCCCACCAGGTAAG	0.512000													2	3					0	0	1	0	0
SLFN13	146857	broad.mit.edu	37	17	33767727	33767727	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr17:33767727C>T	ENST00000285013.6	-	6	2856	c.2581G>A	c.(2581-2583)Gaa>Aaa	p.E861K	SLFN13_ENST00000360502.2_Missense_Mutation_p.E543K|SLFN13_ENST00000526861.1_Missense_Mutation_p.E861K|SLFN13_ENST00000534689.1_Missense_Mutation_p.E543K|SLFN13_ENST00000542635.1_Missense_Mutation_p.E861K|SLFN13_ENST00000533791.1_Missense_Mutation_p.E861K	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	861						intracellular	ATP binding			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		ATGCTCCTTTCCAGGCCTGAG	0.488000													97	15					0	0	1	0	0
RAB27B	5874	broad.mit.edu	37	18	52556515	52556515	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr18:52556515C>T	ENST00000262094.5	+	6	1049	c.528C>T	c.(526-528)acC>acT	p.T176T	RP11-839G9.1_ENST00000588466.1_RNA	NM_004163.4	NP_004154.2	O00194	RB27B_HUMAN	RAB27B, member RAS oncogene family	176					protein transport|small GTPase mediated signal transduction	Golgi apparatus|plasma membrane	GTP binding|GTPase activity			large_intestine(3)|lung(3)|skin(1)	7				Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219)		CTGTAGAAACCCTTTTGGACT	0.403000													8	75					0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43815622	43815622	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr15:43815622G>A	ENST00000382031.1	+	5	2696	c.2665G>A	c.(2665-2667)Gat>Aat	p.D889N	MAP1A_ENST00000399453.1_Missense_Mutation_p.D651N|MAP1A_ENST00000300231.5_Missense_Mutation_p.D651N			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	651						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	AGTAAAGGAGGATGTGATAGA	0.473000													7	19					0	0	1	0	0
LAMB1	3912	broad.mit.edu	37	7	107600255	107600255	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr7:107600255G>A	ENST00000393561.1	-	17	2595	c.2411C>T	c.(2410-2412)tCg>tTg	p.S804L	LAMB1_ENST00000393560.1_Missense_Mutation_p.S780L|LAMB1_ENST00000222399.6_Missense_Mutation_p.S780L			P07942	LAMB1_HUMAN	laminin, beta 1	780	Laminin EGF-like 6.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGAACTTAACGAACCCTGAGG	0.547000													10	10					0	0	1	0	0
GAS2L3	283431	broad.mit.edu	37	12	101017539	101017539	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr12:101017539C>T	ENST00000537247.1	+	10	1598	c.644C>T	c.(643-645)cCt>cTt	p.P215L	GAS2L3_ENST00000547754.1_Missense_Mutation_p.P319L|GAS2L3_ENST00000539410.1_Missense_Mutation_p.P319L|GAS2L3_ENST00000266754.5_Missense_Mutation_p.P319L			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	319	GAR.				cell cycle arrest			p.P319L(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						GAAATGAATCCTTTGTCAGCA	0.403000													15	34					0	0	1	0	0
TRIP12	9320	broad.mit.edu	37	2	230652368	230652368	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:230652368G>A	ENST00000283943.5	-	32	4801	c.4623C>T	c.(4621-4623)ttC>ttT	p.F1541F	TRIP12_ENST00000389044.4_Silent_p.F1589F|TRIP12_ENST00000389045.3_Silent_p.F1271F	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1541	K-box.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		CAAAAGGAAAGAAAAATGGGC	0.333000													16	8					0	0	1	0	0
ROBO4	54538	broad.mit.edu	37	11	124757395	124757395	+	Splice_Site	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:124757395C>T	ENST00000306534.3	-	14	2542	c.2056_splice	c.e14-1	p.G686_splice	ROBO4_ENST00000533054.1_Splice_Site_p.G541_splice|RP11-664I21.5_ENST00000524453.1_RNA	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	686					angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GGGCACAGCTCCTGGGGAAGA	0.632000													14	33					0	0	1	0	0
EXOC3	11336	broad.mit.edu	37	5	465366	465366	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr5:465366C>T	ENST00000512944.1	+	11	2106	c.1917C>T	c.(1915-1917)ttC>ttT	p.F639F	EXOC3_ENST00000315013.5_Silent_p.F639F	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	exocyst complex component 3	650					exocytosis|protein transport					breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			AGCTGCGCTTCCTGTTCCGGA	0.682000													6	10					0	0	1	0	0
CDCA2	157313	broad.mit.edu	37	8	25364203	25364203	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr8:25364203C>T	ENST00000330560.3	+	15	2498	c.2021C>T	c.(2020-2022)tCt>tTt	p.S674F	CDCA2_ENST00000521098.2_3'UTR|CDCA2_ENST00000380665.3_Missense_Mutation_p.S659F	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	674					cell division|mitosis	cytoplasm|nucleus				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		AATGCTACTTCTGATGAAGAT	0.313000													38	32					0	0	1	0	0
RAB11B	9230	broad.mit.edu	37	19	8468310	8468310	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr19:8468310C>T	ENST00000328024.6	+	5	743	c.525C>T	c.(523-525)atC>atT	p.I175I		NM_004218.3	NP_004209.2	Q15907	RB11B_HUMAN	RAB11B, member RAS oncogene family	175					cell cycle|protein transport|small GTPase mediated signal transduction	plasma membrane	GDP binding|GTP binding|GTPase activity			large_intestine(2)|lung(1)|ovary(1)	4						TCTACCGCATCGTGTCACAGA	0.662000													35	50					0	0	1	0	0
MAGEC3	139081	broad.mit.edu	37	X	140985487	140985487	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chrX:140985487C>T	ENST00000298296.1	+	8	1801	c.1801C>T	c.(1801-1803)Cca>Tca	p.P601S	MAGEC3_ENST00000544766.1_3'UTR|MAGEC3_ENST00000409007.1_3'UTR|MAGEC3_ENST00000536088.1_3'UTR|MAGEC3_ENST00000443323.2_3'UTR	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	601	MAGE 2.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					TAGTGCCTTTCCATCCTGGTA	0.478000													50	9					0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	119124871	119124871	+	Splice_Site	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr9:119124871G>A	ENST00000328252.3	+	18	4717	c.4347_splice	c.e18-1	p.G1450_splice	PAPPA_ENST00000534838.1_Splice_Site_p.G488_splice	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1450	Sushi 4.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TGTTGTTCAGGGACTTGGGAG	0.473000													56	8					0	0	1	0	0
UGT2A3	79799	broad.mit.edu	37	4	69817110	69817110	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr4:69817110C>T	ENST00000251566.4	-	1	399	c.369G>A	c.(367-369)atG>atA	p.M123I		NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	123						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TCTCACACATCATTTTTAAAG	0.373000													22	43					0	0	1	0	0
FHOD1	29109	broad.mit.edu	37	16	67266055	67266055	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr16:67266055G>A	ENST00000258201.4	-	14	2336	c.2089C>T	c.(2089-2091)Ccc>Tcc	p.P697S	FHOD1_ENST00000567687.1_Missense_Mutation_p.P276S	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	697	FH2.|Interaction with ROCK1.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		CTGCGCTTGGGGTCCAGCACT	0.577000													32	33					0	0	1	0	0
VWCE	220001	broad.mit.edu	37	11	61026739	61026739	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:61026739C>T	ENST00000335613.5	-	20	2662	c.2276G>A	c.(2275-2277)gGa>gAa	p.G759E	VWCE_ENST00000535710.1_Missense_Mutation_p.G224E	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	759						extracellular region	calcium ion binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TGCCACATTTCCGTGAGGGGA	0.582000													13	44					0	0	1	0	0
MDGA2	161357	broad.mit.edu	37	14	47351397	47351397	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr14:47351397C>T	ENST00000426342.1	-	11	2118	c.1372G>A	c.(1372-1374)Gag>Aag	p.E458K	MDGA2_ENST00000357362.3_Missense_Mutation_p.E458K|MDGA2_ENST00000439988.2_Missense_Mutation_p.E687K|MDGA2_ENST00000399232.2_Missense_Mutation_p.E756K	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	687	Ig-like 5.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						ATTTTAATCTCCTGCTCCCAC	0.358000													14	10					0	0	1	0	0
ACSS1	84532	broad.mit.edu	37	20	25002056	25002056	+	Silent	SNP	A	A	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr20:25002056A>T	ENST00000537502.1	-	4	2359	c.828T>A	c.(826-828)ctT>ctA	p.L276L	ACSS1_ENST00000432802.2_Silent_p.L359L|ACSS1_ENST00000323482.4_Silent_p.L359L|ACSS1_ENST00000542618.1_Silent_p.L238L			Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	359					acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TGCTCTCAAAAAGGACGCTGG	0.562000													26	54					0	0	1	0	0
ANO2	57101	broad.mit.edu	37	12	5848488	5848488	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr12:5848488C>T	ENST00000546188.1	-	13	1491	c.1420G>A	c.(1420-1422)Gaa>Aaa	p.E474K	ANO2_ENST00000327087.8_Missense_Mutation_p.E473K|ANO2_ENST00000356134.5_Missense_Mutation_p.E474K|ANO2_ENST00000538154.1_5'UTR			Q9NQ90	ANO2_HUMAN	anoctamin 2	478						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						CTCACTTCTTCCTCTTCTATG	0.433000													6	5					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13717576	13717576	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr5:13717576G>A	ENST00000265104.4	-	73	12657	c.12553C>T	c.(12553-12555)Ctg>Ttg	p.L4185L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4185	AAA 6 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			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)					ACTGCGTACAGCATGGGCTTC	0.527000									Kartagener syndrome				24	11					0	0	1	0	0
ZNF607	84775	broad.mit.edu	37	19	38189153	38189153	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr19:38189153G>A	ENST00000355202.4	-	5	2474	c.1879C>T	c.(1879-1881)Cac>Tac	p.H627Y	CTD-2528L19.4_ENST00000586606.2_Intron|ZNF607_ENST00000395835.3_Missense_Mutation_p.H626Y	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	627					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			GAGGCACAGTGAAATGCCTTC	0.378000													13	16					0	0	1	0	0
FILIP1	27145	broad.mit.edu	37	6	76024143	76024143	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr6:76024143C>T	ENST00000393004.2	-	5	1626	c.1405G>A	c.(1405-1407)Gaa>Aaa	p.E469K	FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.E370K|FILIP1_ENST00000237172.7_Missense_Mutation_p.E469K			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	469										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						ACCTCCAATTCATTTAGCAGG	0.363000													31	21					0	0	1	0	0
LMBRD2	92255	broad.mit.edu	37	5	36143410	36143410	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr5:36143410A>C	ENST00000296603.4	-	2	504	c.42T>G	c.(40-42)ttT>ttG	p.F14L		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	14						integral to membrane				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATGCCAGAAAAAAGACAAAAA	0.368000													43	22					0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152127415	152127415	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:152127415C>T	ENST00000316073.3	-	3	2224	c.2160G>A	c.(2158-2160)gaG>gaA	p.E720E		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	720	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						CTTCCTGACTCTCATGGCTGT	0.562000													297	19					0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77614213	77614213	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:77614213G>A	ENST00000461745.1	+	12	2691	c.1791G>A	c.(1789-1791)gcG>gcA	p.A597A	ROBO2_ENST00000487694.3_Silent_p.A613A|ROBO2_ENST00000332191.8_Silent_p.A597A	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	597	Fibronectin type-III 1.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TGGTCAGAGCGATCAACCCCC	0.498000													48	28					0	0	1	0	0
EPHA4	2043	broad.mit.edu	37	2	222291272	222291272	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:222291272G>A	ENST00000281821.2	-	16	2799	c.2758C>T	c.(2758-2760)Ctc>Ttc	p.L920F	EPHA4_ENST00000392071.4_Missense_Mutation_p.L869F|EPHA4_ENST00000409854.1_Missense_Mutation_p.L920F|EPHA4_ENST00000409938.1_Missense_Mutation_p.L920F	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	920	SAM.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		ATGGCCTGGAGCCAATCGCCC	0.468000													14	12					0	0	1	0	0
BEND4	389206	broad.mit.edu	37	4	42119601	42119601	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr4:42119601C>T	ENST00000502486.1	-	6	2118	c.1539G>A	c.(1537-1539)ggG>ggA	p.G513G	BEND4_ENST00000504360.1_3'UTR	NM_207406.3	NP_997289.2	Q6ZU67	BEND4_HUMAN	BEN domain containing 4	513										NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						GGTGATCGATCCCTTCATAAA	0.522000													7	16					0	0	1	0	0
IL1RN	3557	broad.mit.edu	37	2	113890349	113890349	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:113890349C>T	ENST00000361779.3	+	6	678	c.333C>T	c.(331-333)ttC>ttT	p.F111F	IL1RN_ENST00000259206.5_Silent_p.F148F|IL1RN_ENST00000409930.3_Silent_p.F145F|IL1RN_ENST00000354115.2_Silent_p.F127F|IL1RN_ENST00000409052.1_Silent_p.F111F	NM_173843.2	NP_776215.1	P18510	IL1RA_HUMAN	interleukin 1 receptor antagonist	145					immune response|inflammatory response|response to glucocorticoid stimulus	centrosome|extracellular space|nucleus|plasma membrane	cytokine activity|interleukin-1 receptor antagonist activity			breast(1)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	10					Anakinra(DB00026)	CCGGTTGGTTCCTCTGCACAG	0.577000									Lichen Sclerosis et Atrophicus, Familial Clustering of				33	71					0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54905644	54905644	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:54905644G>A	ENST00000474759.1	+	18	1753	c.1705G>A	c.(1705-1707)Gac>Aac	p.D569N	CACNA2D3_ENST00000490478.1_Missense_Mutation_p.D475N|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.D569N|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.D569N	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	569						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		AGACCGAGATGACGTGGTAAG	0.507000													12	47					0	0	1	0	0
SLC3A1	6519	broad.mit.edu	37	2	44507907	44507907	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:44507907G>A	ENST00000260649.6	+	2	559	c.483G>A	c.(481-483)tgG>tgA	p.W161*	SLC3A1_ENST00000409387.1_Nonsense_Mutation_p.W161*|SLC3A1_ENST00000409229.3_Nonsense_Mutation_p.W161*|SLC3A1_ENST00000409741.1_Nonsense_Mutation_p.W161*|SLC3A1_ENST00000410056.3_Nonsense_Mutation_p.W161*	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1	161					carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	AAACTGTTTGGATTACTTCAT	0.318000													21	23					0	0	1	0	0
DGKB	1607	broad.mit.edu	37	7	14880876	14880876	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr7:14880876C>T	ENST00000403951.2	-	2	432	c.13G>A	c.(13-15)Gaa>Aaa	p.E5K	DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000407950.1_Missense_Mutation_p.E5K|DGKB_ENST00000258767.5_Missense_Mutation_p.E5K|DGKB_ENST00000406247.3_Missense_Mutation_p.E5K|DGKB_ENST00000402815.1_Missense_Mutation_p.E5K|DGKB_ENST00000399322.3_Missense_Mutation_p.E5K|DGKB_ENST00000444700.2_Missense_Mutation_p.E5K			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	5					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	GCCCATTTTTCCTGGTTTGTC	0.403000													9	7					0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47894813	47894813	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr7:47894813G>A	ENST00000289672.2	-	29	4691	c.4641C>T	c.(4639-4641)ccC>ccT	p.P1547P		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1547	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GCCTGTTGATGGGTCTTCTGC	0.502000													40	37					0	0	1	0	0
UPB1	51733	broad.mit.edu	37	22	24906726	24906726	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr22:24906726T>A	ENST00000413389.2	+	4	1763	c.170T>A	c.(169-171)tTt>tAt	p.F57Y	UPB1_ENST00000326010.5_Missense_Mutation_p.F125Y			Q9UBR1	BUP1_HUMAN	ureidopropionase, beta	125					pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	beta-ureidopropionase activity|metal ion binding			endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	22	Colorectal(2;0.0339)					GCTATGCCCTTTGCCTTCTGT	0.512000													29	59					0	0	1	0	0
OR8I2	120586	broad.mit.edu	37	11	55861122	55861122	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:55861122C>T	ENST00000302124.2	+	1	370	c.339C>T	c.(337-339)ttC>ttT	p.F113F	OR8I2_ENST00000560768.1_Silent_p.F113F			Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					GTGAGTGTTTCCTTCTGGGAT	0.428000													27	69					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9858629	9858629	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr16:9858629G>A	ENST00000396573.2	-	14	3081	c.2772C>T	c.(2770-2772)ttC>ttT	p.F924F	GRIN2A_ENST00000404927.2_Silent_p.F924F|GRIN2A_ENST00000535259.1_Silent_p.F767F|GRIN2A_ENST00000330684.3_Silent_p.F924F|GRIN2A_ENST00000396575.2_Silent_p.F924F|GRIN2A_ENST00000562109.1_Silent_p.F924F	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	924					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			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)	CTCTTTGGATGAAGTCAGCAG	0.448000													74	146					0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130380672	130380672	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:130380672G>A	ENST00000358511.6	+	34	6053	c.6022G>A	c.(6022-6024)Gac>Aac	p.D2008N	COL6A6_ENST00000453409.2_Missense_Mutation_p.D2008N	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	2008	Nonhelical region.|VWFA 9.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TGTCACTGGAGACCGGGTGGC	0.493000													23	9					0	0	1	0	0
TMTC4	84899	broad.mit.edu	37	13	101320943	101320943	+	Missense_Mutation	SNP	G	G	C			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr13:101320943G>C	ENST00000342624.5	-	3	367	c.109C>G	c.(109-111)Cct>Gct	p.P37A	TMTC4_ENST00000328767.5_Missense_Mutation_p.P18A|TMTC4_ENST00000376234.3_Missense_Mutation_p.P18A	NM_032813.2	NP_116202.2	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	18						integral to membrane	binding			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CAGAATGGAGGAAGAACAGAA	0.468000													28	112					0	0	1	0	0
VPS39	23339	broad.mit.edu	37	15	42454661	42454661	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr15:42454661G>A	ENST00000318006.5	-	22	2356	c.2194C>T	c.(2194-2196)Cgg>Tgg	p.R732W	VPS39_ENST00000348544.4_Missense_Mutation_p.R743W	NM_015289.2	NP_056104.2	Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	743					protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		AGGTACATCCGAAGCAGGGAC	0.587000													6	19					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40709527	40709527	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr20:40709527A>T	ENST00000373198.3	-	32	4619	c.4384T>A	c.(4384-4386)Tcc>Acc	p.S1462T	PTPRT_ENST00000373201.1_Missense_Mutation_p.S1430T|PTPRT_ENST00000373184.1_Missense_Mutation_p.S1450T|PTPRT_ENST00000356100.2_Missense_Mutation_p.S1449T|PTPRT_ENST00000373187.1_Missense_Mutation_p.S1440T|PTPRT_ENST00000373193.3_Missense_Mutation_p.S1443T|PTPRT_ENST00000373190.1_Missense_Mutation_p.S1439T	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1440					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			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)				AGCTAAAAGGAGCTTAAATAT	0.527000													36	54					0	0	1	0	0
POLD1	5424	broad.mit.edu	37	19	50906827	50906827	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr19:50906827C>T	ENST00000440232.2	+	10	1268	c.1215C>T	c.(1213-1215)taC>taT	p.Y405Y	POLD1_ENST00000595904.1_Silent_p.Y405Y|POLD1_ENST00000599857.1_Silent_p.Y405Y	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	405					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		ACCTTCCGTACCTCATCTCTC	0.632000								DNA polymerases (catalytic subunits)					59	76					0	0	1	0	0
GCK	2645	broad.mit.edu	37	7	44193026	44193026	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr7:44193026C>T	ENST00000403799.3	-	2	551	c.82G>A	c.(82-84)Gag>Aag	p.E28K	GCK_ENST00000476008.1_5'UTR|GCK_ENST00000437084.1_Missense_Mutation_p.E28K|GCK_ENST00000395796.3_Missense_Mutation_p.E27K|GCK_ENST00000345378.2_Missense_Mutation_p.E29K	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	28					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						TTCAGGTCCTCCTCCTGCAGC	0.627000													179	141					0	0	1	0	0
NFATC4	4776	broad.mit.edu	37	14	24842975	24842975	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr14:24842975G>A	ENST00000413692.2	+	6	1967	c.1823G>A	c.(1822-1824)cGc>cAc	p.R608H	NFATC4_ENST00000554661.1_Missense_Mutation_p.R475H|NFATC4_ENST00000554050.1_Missense_Mutation_p.R545H|NFATC4_ENST00000554344.1_Missense_Mutation_p.R475H|NFATC4_ENST00000556279.1_Missense_Mutation_p.R577H|NFATC4_ENST00000557451.1_Missense_Mutation_p.R475H|NFATC4_ENST00000554473.1_Missense_Mutation_p.R80H|NFATC4_ENST00000555167.1_Missense_Mutation_p.R80H|NFATC4_ENST00000554591.1_Missense_Mutation_p.R608H|NFATC4_ENST00000553469.1_Missense_Mutation_p.R577H|NFATC4_ENST00000556759.1_Missense_Mutation_p.R80H|NFATC4_ENST00000250373.4_Missense_Mutation_p.R545H|NFATC4_ENST00000556169.1_Missense_Mutation_p.R533H|NFATC4_ENST00000553879.1_Missense_Mutation_p.R475H|NFATC4_ENST00000422617.3_Missense_Mutation_p.R533H|NFATC4_ENST00000424781.2_Missense_Mutation_p.R558H|NFATC4_ENST00000539237.2_Missense_Mutation_p.R577H|NFATC4_ENST00000553708.1_Missense_Mutation_p.R545H|NFATC4_ENST00000554966.1_Missense_Mutation_p.R558H|NFATC4_ENST00000555590.1_Missense_Mutation_p.R558H|NFATC4_ENST00000555453.1_Missense_Mutation_p.R533H	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	545	IPT/TIG.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.R545H(1)|p.R608H(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		GACATCGGGCGCAAAAACACA	0.592000													3	51					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	41019008	41019008	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr5:41019008C>T	ENST00000399564.4	-	25	3004	c.2554G>A	c.(2554-2556)Gac>Aac	p.D852N	MROH2B_ENST00000506092.2_Missense_Mutation_p.D407N	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		TTGTCCTTGTCTGTCTGGCCT	0.502000													16	40					0	0	1	0	0
CACNG3	10368	broad.mit.edu	37	16	24372986	24372986	+	Silent	SNP	C	C	T	rs148951012		TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr16:24372986C>T	ENST00000005284.3	+	4	1952	c.750C>T	c.(748-750)atC>atT	p.I250I		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	250					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		TGTCCCCCATCAGCAAAGGCT	0.587000													49	33					0	0	1	0	0
MTMR14	64419	broad.mit.edu	37	3	9719703	9719703	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:9719703C>T	ENST00000296003.4	+	9	980	c.858C>T	c.(856-858)ttC>ttT	p.F286F	MTMR14_ENST00000420925.1_Intron|MTMR14_ENST00000351233.5_Silent_p.F286F|MTMR14_ENST00000353332.5_Silent_p.F286F	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	286						perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					TCCCCGACTTCCTGACTCACT	0.547000													53	26					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10465882	10465882	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr8:10465882G>A	ENST00000382483.3	-	4	5949	c.5726C>T	c.(5725-5727)cCg>cTg	p.P1909L		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1909					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TTCTGCCTCCGGGGCTTCTGC	0.607000													182	174					0	0	1	0	0
TCF20	6942	broad.mit.edu	37	22	42606416	42606416	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr22:42606416G>A	ENST00000359486.3	-	1	5032	c.4896C>T	c.(4894-4896)taC>taT	p.Y1632Y	TCF20_ENST00000335626.4_Silent_p.Y1632Y	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1632					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GGATGTAAGGGTAAAAAGACT	0.428000													103	91					0	0	1	0	0
AGTR2	186	broad.mit.edu	37	X	115303764	115303764	+	Silent	SNP	G	G	A	rs138706948		TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chrX:115303764G>A	ENST00000371906.4	+	3	421	c.231G>A	c.(229-231)aaG>aaA	p.K77K		NM_000686.4	NP_000677.2	P50052	AGTR2_HUMAN	angiotensin II receptor, type 2	77					behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24						GTCCTAAAAAGGTTTCTAGCA	0.363000													58	5					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186134267	186134267	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:186134267C>T	ENST00000271588.4	+	98	15510	c.15281C>T	c.(15280-15282)tCc>tTc	p.S5094F	HMCN1_ENST00000367492.2_Missense_Mutation_p.S5094F	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5094					response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CAGTGCCCCTCCGGGTTTACC	0.413000													36	2					0	0	1	0	0
PLCXD3	345557	broad.mit.edu	37	5	41382221	41382221	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr5:41382221C>T	ENST00000377801.3	-	2	593	c.519G>A	c.(517-519)gcG>gcA	p.A173A	PLCXD3_ENST00000328457.3_Silent_p.A173A			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	173	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						GGGCAAAAATCGCTGGGCACA	0.428000													63	144					0	0	1	0	0
APBA3	9546	broad.mit.edu	37	19	3760055	3760055	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr19:3760055C>T	ENST00000316757.3	-	2	408	c.208G>A	c.(208-210)Gat>Aat	p.D70N		NM_004886.3	NP_004877.1	O96018	APBA3_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 3	70					intracellular signal transduction|protein transport	intracellular|membrane	protein binding			endometrium(1)|large_intestine(1)|skin(1)	3		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCACCAGATCGCCTGGCAGA	0.637000													26	29					0	0	1	0	0
POU3F3	5455	broad.mit.edu	37	2	105473141	105473141	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:105473141C>T	ENST00000361360.2	+	1	1173	c.1173C>T	c.(1171-1173)acC>acT	p.T391T	RP11-13J10.1_ENST00000598623.1_RNA	NM_006236.1	NP_006227.1	P20264	PO3F3_HUMAN	POU class 3 homeobox 3	391					metanephric ascending thin limb development|metanephric DCT cell differentiation|metanephric macula densa development|metanephric thick ascending limb development|negative regulation of apoptosis|positive regulation of cell proliferation	nucleus	sequence-specific DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						ACTCAAGCACCGGCAGCCCCA	0.632000													9	18					0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91133869	91133869	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chrX:91133869C>T	ENST00000373094.1	+	2	3475	c.2630C>T	c.(2629-2631)tCc>tTc	p.S877F	PCDH11X_ENST00000373097.1_Missense_Mutation_p.S877F|PCDH11X_ENST00000361655.2_Missense_Mutation_p.S877F|PCDH11X_ENST00000395337.2_Missense_Mutation_p.S877F|PCDH11X_ENST00000504220.1_Missense_Mutation_p.S877F|PCDH11X_ENST00000361724.1_Missense_Mutation_p.S877F|PCDH11X_ENST00000373088.1_Missense_Mutation_p.S877F|PCDH11X_ENST00000406881.1_Missense_Mutation_p.S877F|PCDH11X_ENST00000298274.8_Missense_Mutation_p.S877F	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	877					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						aagaagCATTCCCCTAAGAAC	0.393000													31	1					0	0	1	0	0
STPG2	285555	broad.mit.edu	37	4	99030457	99030457	+	Splice_Site	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr4:99030457C>T	ENST00000295268.3	-	4	477		c.e4-1			NM_174952.2	NP_777612.1			sperm-tail PG-rich repeat containing 2																		TGGAAACATCCTAAAAAATAA	0.328000													6	25					0	0	1	0	0
HCK	3055	broad.mit.edu	37	20	30671804	30671804	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr20:30671804A>C	ENST00000534862.1	+	8	943	c.580A>C	c.(580-582)Agc>Cgc	p.S194R	HCK_ENST00000538448.1_Missense_Mutation_p.S193R|HCK_ENST00000520553.1_Missense_Mutation_p.S193R|HCK_ENST00000518730.1_Missense_Mutation_p.S192R|HCK_ENST00000375852.2_Missense_Mutation_p.S214R|HCK_ENST00000375862.2_Missense_Mutation_p.S213R	NM_001172132.1	NP_001165603.1	P08631	HCK_HUMAN	hemopoietic cell kinase	214	SH2.				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			ATCCCCCCGAAGCACCTTCAG	0.587000													37	45					0	0	1	0	0
FLAD1	80308	broad.mit.edu	37	1	154960749	154960749	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:154960749C>T	ENST00000368433.1	+	2	884	c.541C>T	c.(541-543)Ccc>Tcc	p.P181S	FLAD1_ENST00000292180.3_Missense_Mutation_p.P181S|FLAD1_ENST00000368432.1_Missense_Mutation_p.P84S|FLAD1_ENST00000315144.10_Missense_Mutation_p.P84S|FLAD1_ENST00000368431.3_Missense_Mutation_p.P82S|FLAD1_ENST00000405236.2_Missense_Mutation_p.P82S|FLAD1_ENST00000487371.1_3'UTR|FLAD1_ENST00000295530.2_5'UTR			Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	181	Molybdenum cofactor biosynthesis protein- like.				FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity			endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GGGCATCGGCCCCACTCATGA	0.567000													156	11					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38840805	38840805	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr6:38840805C>T	ENST00000359357.3	+	49	6964	c.6710C>T	c.(6709-6711)cCt>cTt	p.P2237L	DNAH8_ENST00000449981.2_Missense_Mutation_p.P2454L|DNAH8_ENST00000441566.1_Missense_Mutation_p.P2201L					dynein, axonemal, heavy chain 8											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						CCCATGGCCCCTAGTTGTAAG	0.473000													29	45					0	0	1	0	0
LAIR1	3903	broad.mit.edu	37	19	54866919	54866919	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr19:54866919G>A	ENST00000391743.3	-	9	1048	c.768C>T	c.(766-768)ccC>ccT	p.P256P	LAIR1_ENST00000313038.6_Silent_p.P267P|LAIR1_ENST00000348231.4_Silent_p.P257P|LAIR1_ENST00000434277.2_Silent_p.P273P|LAIR1_ENST00000474878.1_Silent_p.P256P|LAIR1_ENST00000391742.2_Silent_p.P274P			Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like receptor 1	274						integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		ACTCGGCCATGGGCTTTGTGG	0.607000													61	59					0	0	1	0	0
GSDMC	56169	broad.mit.edu	37	8	130764977	130764977	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr8:130764977T>C	ENST00000276708.4	-	7	1692	c.811A>G	c.(811-813)Aat>Gat	p.N271D		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	271						mitochondrion				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						gatgaggcattgaagagggtt	0.408000													14	96					0	0	1	0	0
SLC25A31	83447	broad.mit.edu	37	4	128651823	128651823	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr4:128651823C>T	ENST00000281154.4	+	1	291	c.123C>T	c.(121-123)atC>atT	p.I41I		NM_031291.2	NP_112581.1	Q9H0C2	ADT4_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31	41					transmembrane transport	cilium|flagellum|integral to membrane|mitochondrial inner membrane	binding|transporter activity			NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2)	22						TGGCGCCCATCGAGCGGGTGA	0.642000													33	36					0	0	1	0	0
NT5DC2	64943	broad.mit.edu	37	3	52561857	52561857	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:52561857G>A	ENST00000307076.4	-	8	1212	c.812C>T	c.(811-813)cCt>cTt	p.P271L	NT5DC2_ENST00000307092.4_Missense_Mutation_p.P212L|NT5DC2_ENST00000459839.1_Missense_Mutation_p.P283L|NT5DC2_ENST00000422318.2_Missense_Mutation_p.P308L	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2	271							hydrolase activity|metal ion binding			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		GAAGCTGAAAGGACTGTTGGT	0.612000													6	46					0	0	1	0	0
TMEM88	92162	broad.mit.edu	37	17	7758981	7758981	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr17:7758981G>A	ENST00000301599.6	+	2	439	c.429G>A	c.(427-429)cgG>cgA	p.R143R	TMEM88_ENST00000574668.1_Intron	NM_203411.1	NP_981956.1	Q6PEY1	TMM88_HUMAN	transmembrane protein 88	143						integral to membrane				lung(1)	1		all_cancers(10;0.00528)|Prostate(122;0.202)				GGCAAATCCGGGCCTCACCAG	0.662000													11	1					0	0	1	0	0
MEGF10	84466	broad.mit.edu	37	5	126790295	126790295	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr5:126790295C>T	ENST00000274473.6	+	24	3285	c.3018C>T	c.(3016-3018)tcC>tcT	p.S1006S	MEGF10_ENST00000503335.2_Silent_p.S1006S|MEGF10_ENST00000510828.1_3'UTR	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	1006	Necessary for formation of large intracellular vacuoles.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		TGGGAAAATCCTTAAAAGGTA	0.323000													20	3					0	0	1	0	0
TOP3B	8940	broad.mit.edu	37	22	22318312	22318312	+	Missense_Mutation	SNP	G	G	C			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr22:22318312G>C	ENST00000398793.2	-	11	1621	c.1187C>G	c.(1186-1188)gCc>gGc	p.A396G	TOP3B_ENST00000357179.5_Missense_Mutation_p.A396G|TOP3B_ENST00000413067.2_Missense_Mutation_p.A125G	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	396					DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		GGCCTCTGTGGCAGACTTCAT	0.612000													7	110					0	0	1	0	0
PRRC2C	23215	broad.mit.edu	37	1	171510670	171510670	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:171510670G>A	ENST00000367742.3	+	16	4307	c.4065G>A	c.(4063-4065)agG>agA	p.R1355R	PRRC2C_ENST00000426496.2_Silent_p.R1353R|PRRC2C_ENST00000338920.4_Silent_p.R1353R|PRRC2C_ENST00000392078.3_Silent_p.R1355R			Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	1353	Arg-rich.						protein C-terminus binding										GTGGTGGAAGGGATCCTGGAG	0.517000													30	3					0	0	1	0	0
MARCO	8685	broad.mit.edu	37	2	119739223	119739223	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:119739223G>A	ENST00000541757.1	+	11	1038	c.658G>A	c.(658-660)Gga>Aga	p.G220R	MARCO_ENST00000327097.4_Missense_Mutation_p.G298R			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	298	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						TGGAGCTAAAGGAGATCAAGG	0.433000													14	54					0	0	1	0	0
TM7SF2	7108	broad.mit.edu	37	11	64882974	64882974	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:64882974G>A	ENST00000279263.7	+	9	1162	c.1000G>A	c.(1000-1002)Ggg>Agg	p.G334R	TM7SF2_ENST00000540748.1_Missense_Mutation_p.G218R|TM7SF2_ENST00000345348.5_Missense_Mutation_p.G307R	NM_003273.2	NP_003264.2	O76062	ERG24_HUMAN	transmembrane 7 superfamily member 2	334					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane	delta14-sterol reductase activity			lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TACAGCCACAGGGCGGAAACT	0.607000													9	47					0	0	1	0	0
KRTAP9-4	85280	broad.mit.edu	37	17	39406380	39406380	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr17:39406380G>A	ENST00000334109.2	+	1	442	c.408G>A	c.(406-408)gaG>gaA	p.E136E		NM_033191.2	NP_149461.2	Q9BYQ2	KRA94_HUMAN	keratin associated protein 9-4	136	15 X 5 AA repeats of C-C-[RQVGE]-[SPTN]- [TASPF].					keratin filament				breast(1)|large_intestine(1)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CCTGCTGTGAGACCACTTGCT	0.572000													104	73					0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	166960489	166960489	+	Splice_Site	SNP	A	A	G			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr4:166960489A>G	ENST00000061240.2	+	10	1805		c.e10-1		TLL1_ENST00000507499.1_Splice_Site	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1						cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TCCATTTTGCAGATTGTTTTA	0.363000													13	12					0	0	1	0	0
DCAF11	80344	broad.mit.edu	37	14	24587348	24587348	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr14:24587348C>T	ENST00000446197.3	+	6	1288	c.561C>T	c.(559-561)ttC>ttT	p.F187F	DCAF11_ENST00000560171.1_Intron|DCAF11_ENST00000396936.1_Silent_p.F87F|DCAF11_ENST00000559115.1_Silent_p.F187F|DCAF11_ENST00000396941.4_Silent_p.F161F	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11	187						CUL4 RING ubiquitin ligase complex	protein binding										GTCAAATATTCATGTCTGCTT	0.493000													54	41					0	0	1	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79083524	79083524	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr15:79083524G>A	ENST00000388820.4	-	5	1071	c.861C>T	c.(859-861)atC>atT	p.I287I	ADAMTS7_ENST00000566303.1_5'UTR	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	287	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						TGGTGATGTGGATGGGGTTCC	0.602000													18	56					0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77407641	77407641	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr9:77407641T>C	ENST00000451710.3	-	19	2674	c.2437A>G	c.(2437-2439)Aat>Gat	p.N813D	TRPM6_ENST00000449912.2_Missense_Mutation_p.N808D|TRPM6_ENST00000376864.4_Missense_Mutation_p.N813D|TRPM6_ENST00000360774.1_Missense_Mutation_p.N813D|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.N808D			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	813					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						AAATGCTGATTTTCATCCAGT	0.373000													32	5					0	0	1	0	0
CCDC157	550631	broad.mit.edu	37	22	30762175	30762175	+	Silent	SNP	T	T	G			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr22:30762175T>G	ENST00000405659.1	+	3	895	c.186T>G	c.(184-186)gtT>gtG	p.V62V	CCDC157_ENST00000399824.2_Silent_p.V62V|CCDC157_ENST00000338306.3_Silent_p.V62V			Q569K6	CC157_HUMAN	coiled-coil domain containing 157	62										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						ATGACCATGTTCCGGGTGACC	0.642000													25	140					0	0	1	0	0
SLC35G3	146861	broad.mit.edu	37	17	33520597	33520597	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr17:33520597G>A	ENST00000297307.5	-	1	815	c.730C>T	c.(730-732)Ccc>Tcc	p.P244S		NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN	solute carrier family 35, member G3	244						integral to membrane											GGCAACACGGGGGCCTGCAGC	0.622000													82	13					0	0	1	0	0
RHOH	399	broad.mit.edu	37	4	40245097	40245097	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr4:40245097G>A	ENST00000381799.4	+	3	815	c.91G>A	c.(91-93)Gag>Aag	p.E31K	RHOH_ENST00000505618.1_Missense_Mutation_p.E31K	NM_001278363.1|NM_001278365.1|NM_004310.3	NP_001265292.1|NP_001265294.1|NP_004301.1	Q15669	RHOH_HUMAN	ras homolog family member H	31					negative regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|T cell differentiation	cytosol|mitochondrion|plasma membrane	GTP binding|GTPase inhibitor activity|kinase inhibitor activity|Rho GTPase binding			kidney(1)|large_intestine(3)|lung(7)|ovary(1)	12						GACCTTCCCGGAGGCCTACAA	0.597000													39	24					0	0	1	0	0
DHH	50846	broad.mit.edu	37	12	49488070	49488070	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr12:49488070C>T	ENST00000266991.2	-	1	532	c.226G>A	c.(226-228)Gac>Aac	p.D76N		NM_021044.2	NP_066382.1	O43323	DHH_HUMAN	desert hedgehog	76					cell-cell signaling|proteolysis	extracellular space|plasma membrane	calcium ion binding|peptidase activity|zinc ion binding			breast(1)|large_intestine(3)|lung(4)	8						GGCACGAGGTCCCGGAAGCGC	0.642000													18	50					0	0	1	0	0
ELK1	2002	broad.mit.edu	37	X	47500672	47500672	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chrX:47500672A>T	ENST00000247161.3	-	2	268	c.169T>A	c.(169-171)Tac>Aac	p.Y57N	ELK1_ENST00000343894.4_Missense_Mutation_p.Y57N|ELK1_ENST00000592066.1_Missense_Mutation_p.Y3N|ELK1_ENST00000376983.3_Missense_Mutation_p.Y57N	NM_005229.4	NP_005220.2	P19419	ELK1_HUMAN	ELK1, member of ETS oncogene family	57					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	10						AGCTTGTCGTAATTCATGTTG	0.532000													27	3					0	0	1	0	0
LCA5	167691	broad.mit.edu	37	6	80203405	80203405	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr6:80203405C>T	ENST00000392959.1	-	5	1394	c.783G>A	c.(781-783)agG>agA	p.R261R	LCA5_ENST00000467898.2_Silent_p.R261R|LCA5_ENST00000369846.4_Silent_p.R261R	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	261					protein transport	cilium axoneme|microtubule basal body	protein binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		ATGCCCTTTTCCTTTCAGCAA	0.328000													5	18					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	132051895	132051895	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr8:132051895G>A	ENST00000286355.5	-	1	2777	c.685C>T	c.(685-687)Ctg>Ttg	p.L229L	ADCY8_ENST00000377928.3_Silent_p.L229L	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	229					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			ACCACCACCAGGGCGCAGATC	0.632000										HNSCC(32;0.087)			50	23					0	0	1	0	0
DNAJB8	165721	broad.mit.edu	37	3	128181598	128181598	+	Missense_Mutation	SNP	A	A	G	rs147724414		TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:128181598A>G	ENST00000469083.1	-	2	3048	c.491T>C	c.(490-492)tTc>tCc	p.F164S	DNAJB8_ENST00000319153.3_Missense_Mutation_p.F164S			Q8NHS0	DNJB8_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 8	164					protein folding		heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.177)		GGTGGATGAGAAGGTGGTGTG	0.602000													4	28					0	0	1	0	0
TRAV38-2DV8	28643	broad.mit.edu	37	14	22749563	22749563	+	RNA	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr14:22749563C>T	ENST00000390465.2	+	0	327																											GCAGCCAAATCCTTCAGTCTC	0.483000													12	32					0	0	1	0	0
GMPPA	29926	broad.mit.edu	37	2	220366257	220366257	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr2:220366257C>T	ENST00000358215.3	+	4	567	c.198C>T	c.(196-198)acC>acT	p.T66T	GMPPA_ENST00000341142.3_Silent_p.T66T|GMPPA_ENST00000373908.1_Silent_p.T66T|GMPPA_ENST00000373917.3_Silent_p.T66T|AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000313597.5_Silent_p.T66T	NM_205847.2	NP_995319.1	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	66					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		AGCCCCTCACCCAGTTCCTAG	0.532000													41	95					0	0	1	0	0
OXGR1	27199	broad.mit.edu	37	13	97639949	97639949	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr13:97639949C>T	ENST00000298440.1	-	4	308	c.65G>A	c.(64-66)gGa>gAa	p.G22E	OXGR1_ENST00000543457.1_Missense_Mutation_p.G22E	NM_080818.3	NP_543008.3	Q96P68	OXGR1_HUMAN	oxoglutarate (alpha-ketoglutarate) receptor 1	22						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.G22V(1)		NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			AGTGCAATTTCCAAAAGCAGC	0.418000													23	43					0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	69758194	69758194	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr6:69758194C>T	ENST00000370598.1	+	14	3046	c.2225C>T	c.(2224-2226)cCa>cTa	p.P742L		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	742					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GTAGTAATTCCAAAAAGCATT	0.373000													21	11					0	0	1	0	0
BTNL8	79908	broad.mit.edu	37	5	180338561	180338561	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr5:180338561C>T	ENST00000231229.4	+	3	854	c.620C>T	c.(619-621)tCc>tTc	p.S207F	BTNL8_ENST00000400707.3_Missense_Mutation_p.S82F|BTNL8_ENST00000340184.4_Missense_Mutation_p.S207F|BTNL8_ENST00000533815.2_Missense_Mutation_p.S23F|BTNL8_ENST00000511704.1_Missense_Mutation_p.S91F|BTNL8_ENST00000508408.1_Missense_Mutation_p.S207F|BTNL8_ENST00000505126.1_5'UTR	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	207	Ig-like V-type 2.					integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATATCCTGTTCCATGCGGCAT	0.547000													26	72					0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101944378	101944378	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr13:101944378C>T	ENST00000251127.6	-	9	1091	c.1010G>A	c.(1009-1011)gGa>gAa	p.G337E	NALCN_ENST00000376196.3_Missense_Mutation_p.G337E|NALCN_ENST00000470333.1_5'UTR	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	337						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GCTTCTCGATCCCCACATTTG	0.423000													12	47					0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1081659	1081659	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:1081659G>A	ENST00000441003.2	+	13	1614	c.1587G>A	c.(1585-1587)ggG>ggA	p.G529G	MUC2_ENST00000359061.5_Silent_p.G529G	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	529	VWFD 2.					inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GCCTCTGCGGGAACTTCAACG	0.662000													15	3					0	0	1	0	0
PLEKHH1	57475	broad.mit.edu	37	14	68008659	68008659	+	Silent	SNP	T	T	C			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr14:68008659T>C	ENST00000329153.5	+	2	207	c.75T>C	c.(73-75)ctT>ctC	p.L25L		NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	25						cytoskeleton	binding			endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		AAACTCAGCTTTTCCGGTTCC	0.567000													4	6					0	0	1	0	0
CHRD	8646	broad.mit.edu	37	3	184100658	184100658	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:184100658C>T	ENST00000204604.1	+	9	1243	c.997C>T	c.(997-999)Ccc>Tcc	p.P333S	CHRD_ENST00000348986.3_Missense_Mutation_p.P333S|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000450923.1_Missense_Mutation_p.P333S|CHRD_ENST00000545352.1_5'UTR	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	333	CHRD 2.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AACCCAGGTTCCCTTGAGGCT	0.587000													9	26					0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23890171	23890171	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr14:23890171A>C	ENST00000355349.3	-	26	3494	c.3332T>G	c.(3331-3333)cTt>cGt	p.L1111R		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1111					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CCTCACCTGAAGCTCCTTGAG	0.572000													6	21					0	0	1	0	0
CHST1	8534	broad.mit.edu	37	11	45672166	45672166	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr11:45672166C>T	ENST00000308064.2	-	4	978	c.308G>A	c.(307-309)cGc>cAc	p.R103H		NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	103					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		CTGGGTGAAGCGGGGGATGAG	0.652000													18	62					0	0	1	0	0
XKR6	286046	broad.mit.edu	37	8	10756047	10756047	+	Silent	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr8:10756047C>T	ENST00000416569.2	-	3	1367	c.1341G>A	c.(1339-1341)acG>acA	p.T447T	XKR6_ENST00000304437.2_Silent_p.T168T	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	447						integral to membrane		p.T447T(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		TCAAGACTATCGTATAATATG	0.473000													19	14					0	0	1	0	0
DRAM1	55332	broad.mit.edu	37	12	102295138	102295138	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr12:102295138C>T	ENST00000258534.8	+	3	708	c.269C>T	c.(268-270)cCt>cTt	p.P90L	DRAM1_ENST00000544152.1_Missense_Mutation_p.P90L	NM_018370.2	NP_060840.2	Q8N682	DRAM1_HUMAN	DNA-damage regulated autophagy modulator 1	90					apoptosis|autophagy	integral to membrane|lysosomal membrane				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12						TTCAGCACTCCTGTTTTTAAC	0.388000													27	17					0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2795376	2795376	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr12:2795376G>A	ENST00000399655.1	+	45	5990	c.5725G>A	c.(5725-5727)Gac>Aac	p.D1909N	CACNA1C_ENST00000399641.1_Missense_Mutation_p.D1909N|CACNA1C_ENST00000399637.1_Missense_Mutation_p.D1928N|CACNA1C_ENST00000399644.1_Missense_Mutation_p.D1909N|CACNA1C_ENST00000402845.3_Missense_Mutation_p.D1928N|CACNA1C_ENST00000399606.1_Missense_Mutation_p.D1929N|CACNA1C_ENST00000335762.5_Missense_Mutation_p.D1934N|CACNA1C_ENST00000327702.7_Missense_Mutation_p.D1944N|CACNA1C_ENST00000399638.1_Missense_Mutation_p.D1937N|CACNA1C_ENST00000344100.3_Missense_Mutation_p.D1950N|CACNA1C_ENST00000399595.1_Missense_Mutation_p.D1917N|CACNA1C_ENST00000399634.1_Missense_Mutation_p.D1980N|CACNA1C_ENST00000399597.1_Missense_Mutation_p.D1909N|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399591.1_Missense_Mutation_p.D1917N|CACNA1C_ENST00000347598.4_Missense_Mutation_p.D1957N|CACNA1C_ENST00000399629.1_Missense_Mutation_p.D1926N|CACNA1C_ENST00000399649.1_Missense_Mutation_p.D1915N|CACNA1C_ENST00000406454.3_Missense_Mutation_p.D1980N|CACNA1C_ENST00000399617.1_Missense_Mutation_p.D1944N|CACNA1C_ENST00000399603.1_Missense_Mutation_p.D1909N|CACNA1C_ENST00000399621.1_Missense_Mutation_p.D1928N|CACNA1C_ENST00000399601.1_Missense_Mutation_p.D1909N	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1992					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GCGACAGAAGGACCGAGGGGG	0.572000													47	43					0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39229835	39229835	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:39229835G>A	ENST00000340369.3	-	2	1330	c.1102C>T	c.(1102-1104)Cca>Tca	p.P368S	XIRP1_ENST00000396251.1_Missense_Mutation_p.P368S|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	368							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TCCTTGGGTGGGGCCTCTGCT	0.577000													111	55					0	0	1	0	0
ATP9A	10079	broad.mit.edu	37	20	50346415	50346415	+	Silent	SNP	G	G	A			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr20:50346415G>A	ENST00000338821.5	-	2	435	c.171C>T	c.(169-171)gtC>gtT	p.V57V	ATP9A_ENST00000311637.5_Silent_p.V42V|ATP9A_ENST00000402822.1_Silent_p.V57V|ATP9A_ENST00000477492.1_5'UTR	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	57					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GATTGTTGATGACATTCCGAG	0.547000													75	83					0	0	1	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98469612	98469612	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr10:98469612C>T	ENST00000339364.5	-	2	261	c.142G>A	c.(142-144)Ggc>Agc	p.G48S		NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	48						cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		GCCTCGGGGCCCAGCCTGTGA	0.627000													25	6					0	0	1	0	0
MST1L	11223	broad.mit.edu	37	1	17084791	17084791	+	RNA	DEL	A	A	-			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr1:17084791delA	ENST00000455405.2	-	0	228																											GGCCCTGCCTAGAGGAGTGGG	0.582													6	6	---	---	---	---					
CYP8B1	1582	broad.mit.edu	37	3	42916445	42916445	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr3:42916445delC	ENST00000316161.4	-	1	1188	c.864delG	c.(862-864)ggfs	p.G288fs	ACKR2_ENST00000471537.1_Intron|KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Frame_Shift_Del_p.G288fs	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B, polypeptide 1	288					bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		AAGAGGTAGGCCCCGTGTTCC	0.592													11	8	---	---	---	---					
PAPLN	89932	broad.mit.edu	37	14	73716721	73716721	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr14:73716721delC	ENST00000427855.1	+	6	466	c.364delC	c.(364-366)ccfs	p.P122fs	PAPLN_ENST00000555445.1_Frame_Shift_Del_p.P122fs|PAPLN_ENST00000554301.1_Frame_Shift_Del_p.P122fs|PAPLN_ENST00000381166.3_Frame_Shift_Del_p.P122fs|PAPLN_ENST00000340738.5_Frame_Shift_Del_p.P122fs			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	122						proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		GAACTGCATTCCCAAGGGGGA	0.582													8	17	---	---	---	---					
RYR3	6263	broad.mit.edu	37	15	33952614	33952614	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr15:33952614delG	ENST00000389232.4	+	34	4682	c.4612delG	c.(4612-4614)agfs	p.E1539fs	RYR3_ENST00000415757.3_Frame_Shift_Del_p.E1539fs	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1539	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCACATCCCCGAGGAGAACAG	0.652													2	4	---	---	---	---					
SEC14L5	9717	broad.mit.edu	37	16	5061218	5061219	+	Frame_Shift_Ins	INS	-	-	G	rs148186772	by1000genomes	TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chr16:5061218_5061219insG	ENST00000251170.7	+	15	2103_2104	c.1923_1924insG	c.(1921-1926)ccggccfs	p.A642fs	RP11-165E7.1_ENST00000588778.1_RNA	NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	642	GOLD.					integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						TGCACAGCCCCGGGCCCAAGTG	0.663													16	29	---	---	---	---					
DDX3X	1654	broad.mit.edu	37	X	41200787	41200787	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D9-A6EA-06A-11D-A30X-08	TCGA-D9-A6EA-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fc30001-7e6f-4e09-92b0-0d43d632ece8	1d1757c4-bcf4-4779-8516-6b91122949c5	g.chrX:41200787delG	ENST00000399959.2	+	4	1057	c.202delG	c.(202-204)cgfs	p.A68fs	DDX3X_ENST00000441189.2_Frame_Shift_Del_p.A68fs|DDX3X_ENST00000542215.1_Frame_Shift_Del_p.A112fs|DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000457138.2_Frame_Shift_Del_p.A52fs	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	68					interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						AGATAAGGATGCGTATAGCAG	0.363										HNSCC(61;0.18)			31	4	---	---	---	---